variantID VariantClass proband genomic_location gene gnomad_maf internal_maf cadd cadd_phred gerp nearest_candidate_gene_tss distance_to_candidate_gene_tss oligoType base genomicSeq oligoBarcode oligoSeq oligoID chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Reference C ggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GTTCATACGTAC CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgttcatacgtacAGATCGAGACCCGACGC chr1:1011420-Reference-C;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Reference C ggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GTTACGCGATGC CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgttacgcgatgcAGATCGAGACCCGACGC chr1:1011420-Reference-C;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Reference C ggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct CTTACCACTCGA CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAActtaccactcgaAGATCGAGACCCGACGC chr1:1011420-Reference-C;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Reference C ggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct AGTACAGTACCT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAagtacagtacctAGATCGAGACCCGACGC chr1:1011420-Reference-C;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Reference C ggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct AGCACGACTATC CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcCgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAagcacgactatcAGATCGAGACCCGACGC chr1:1011420-Reference-C;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative A ggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GTCGTAGACGAG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgtcgtagacgagAGATCGAGACCCGACGC chr1:1011420-Alternative-A;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative A ggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GCGTCGCTTAAG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgcgtcgcttaagAGATCGAGACCCGACGC chr1:1011420-Alternative-A;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative A ggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct ATCGCGGCAATA CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAatcgcggcaataAGATCGAGACCCGACGC chr1:1011420-Alternative-A;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative A ggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct CGATTCGCCGAA CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAcgattcgccgaaAGATCGAGACCCGACGC chr1:1011420-Alternative-A;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative A ggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct CGCATACGTGCA CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcAgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAcgcatacgtgcaAGATCGAGACCCGACGC chr1:1011420-Alternative-A;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Variant T ggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct ACGTAGGTACTT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAacgtaggtacttAGATCGAGACCCGACGC chr1:1011420-Variant-T;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Variant T ggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct AATCTTGGATGG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAaatcttggatggAGATCGAGACCCGACGC chr1:1011420-Variant-T;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Variant T ggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GGCAAGATAGTT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAggcaagatagttAGATCGAGACCCGACGC chr1:1011420-Variant-T;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Variant T ggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct CTCACGTTGTCG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAActcacgttgtcgAGATCGAGACCCGACGC chr1:1011420-Variant-T;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Variant T ggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GATGACATGCGC CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcTgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgatgacatgcgcAGATCGAGACCCGACGC chr1:1011420-Variant-T;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative G ggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct AATGCCGGACAT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAaatgccggacatAGATCGAGACCCGACGC chr1:1011420-Alternative-G;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative G ggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct ACGCATGATCGG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAacgcatgatcggAGATCGAGACCCGACGC chr1:1011420-Alternative-G;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative G ggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GAGTAATTCCGT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgagtaattccgtAGATCGAGACCCGACGC chr1:1011420-Alternative-G;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative G ggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct GAATCGTAACCT CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAgaatcgtaacctAGATCGAGACCCGACGC chr1:1011420-Alternative-G;Patient-30 chr1:1011420-CT Inherited Patient-30 intergenic 0.000447 0.00205 NA NA NA AGRN 55916 Alternative G ggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtct AGGCTATATACG CGACGCGGTCTCTCTCTggctgaggctatggggactccgtggggggaggctgaggttatggggactcGgtgctgggaggctgaggctatggggactccatcgggggaggctgagtctAGAGGGAGACGGACGTCTCAATAAaggctatatacgAGATCGAGACCCGACGC chr1:1011420-Alternative-G;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative C atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GTCAGTATACGT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgtcagtatacgtAGATCGAGACCCGACGC chr1:10515430-Alternative-C;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative C atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta CGATCATCCTAC CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAcgatcatcctacAGATCGAGACCCGACGC chr1:10515430-Alternative-C;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative C atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta CGTGTACCTTCG CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAcgtgtaccttcgAGATCGAGACCCGACGC chr1:10515430-Alternative-C;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative C atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GATATCGCAGTT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgatatcgcagttAGATCGAGACCCGACGC chr1:10515430-Alternative-C;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative C atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta ACGCCGCGATAT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcCtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAacgccgcgatatAGATCGAGACCCGACGC chr1:10515430-Alternative-C;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Variant A atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GCCGTCATTAGG CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgccgtcattaggAGATCGAGACCCGACGC chr1:10515430-Variant-A;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Variant A atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta CGTCGACAGCAT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAcgtcgacagcatAGATCGAGACCCGACGC chr1:10515430-Variant-A;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Variant A atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GTTCATGCTTGT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgttcatgcttgtAGATCGAGACCCGACGC chr1:10515430-Variant-A;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Variant A atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta ACTTAACGCGAG CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAacttaacgcgagAGATCGAGACCCGACGC chr1:10515430-Variant-A;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Variant A atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GAGTTGCAAGAT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcAtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgagttgcaagatAGATCGAGACCCGACGC chr1:10515430-Variant-A;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Reference T atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GTGCTATGGTTC CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgtgctatggttcAGATCGAGACCCGACGC chr1:10515430-Reference-T;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Reference T atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GCATGGTTCCGA CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgcatggttccgaAGATCGAGACCCGACGC chr1:10515430-Reference-T;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Reference T atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GCGTGTAGATGG CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgcgtgtagatggAGATCGAGACCCGACGC chr1:10515430-Reference-T;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Reference T atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta AGAACGCGTATA CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAagaacgcgtataAGATCGAGACCCGACGC chr1:10515430-Reference-T;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Reference T atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GATAGACGAACG CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcTtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgatagacgaacgAGATCGAGACCCGACGC chr1:10515430-Reference-T;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative G atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta GTTGTGATAGCT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAgttgtgatagctAGATCGAGACCCGACGC chr1:10515430-Alternative-G;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative G atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta CGAGAATCGAAT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAcgagaatcgaatAGATCGAGACCCGACGC chr1:10515430-Alternative-G;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative G atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta ATTCGAAGCCTT CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAattcgaagccttAGATCGAGACCCGACGC chr1:10515430-Alternative-G;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative G atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta CTAATGTGCGGC CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAActaatgtgcggcAGATCGAGACCCGACGC chr1:10515430-Alternative-G;Patient-30 chr1:10515430-TA Inherited Patient-30 intergenic 0.000161 0.000512821 NA NA NA CORT 5653 Alternative G atgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgta ACCTTAGACCGC CGACGCGGTCTCTCTCTatgtgctgggattacaggcgtgaaccaccgcgcctggcttttgtaacttcGtataatgctagtaaaaatagtaatttctctttcccattttgcatttgtaAGAGGGAGACGGACGTCTCAATAAaccttagaccgcAGATCGAGACCCGACGC chr1:10515430-Alternative-G;Patient-30 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative G gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GATGAACTGTCG CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgatgaactgtcgAGATCGAGACCCGACGC chr1:11429558-Alternative-G;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative G gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GCAGCGTATTGC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgcagcgtattgcAGATCGAGACCCGACGC chr1:11429558-Alternative-G;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative A gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GGCGATCAAGCT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAggcgatcaagctAGATCGAGACCCGACGC chr1:11429558-Alternative-A;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative G gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat CTTAACCAACAC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAActtaaccaacacAGATCGAGACCCGACGC chr1:11429558-Alternative-G;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative A gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat AGCGCGTACTGA CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAagcgcgtactgaAGATCGAGACCCGACGC chr1:11429558-Alternative-A;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Variant T gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat ATTCTGGTGGAT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAattctggtggatAGATCGAGACCCGACGC chr1:11429558-Variant-T;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative A gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat ACGTAGCGGAGT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAacgtagcggagtAGATCGAGACCCGACGC chr1:11429558-Alternative-A;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative A gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GGTGAATTCTAC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAggtgaattctacAGATCGAGACCCGACGC chr1:11429558-Alternative-A;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Variant T gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GTAATGACTACC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgtaatgactaccAGATCGAGACCCGACGC chr1:11429558-Variant-T;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Variant T gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GGTACGACTCGT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAggtacgactcgtAGATCGAGACCCGACGC chr1:11429558-Variant-T;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Variant T gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat CGCATAAGCAGA CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAcgcataagcagaAGATCGAGACCCGACGC chr1:11429558-Variant-T;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Variant T gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GTGTCTGAAGTT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttTggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgtgtctgaagttAGATCGAGACCCGACGC chr1:11429558-Variant-T;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative G gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat ACGCGGTTAACC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAacgcggttaaccAGATCGAGACCCGACGC chr1:11429558-Alternative-G;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Reference C gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat AGATAGTATCGC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAagatagtatcgcAGATCGAGACCCGACGC chr1:11429558-Reference-C;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative G gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GATGCTAACATC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttGggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgatgctaacatcAGATCGAGACCCGACGC chr1:11429558-Alternative-G;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Reference C gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat CATGCGGATGGT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAcatgcggatggtAGATCGAGACCCGACGC chr1:11429558-Reference-C;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Reference C gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GACAACAGTACC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgacaacagtaccAGATCGAGACCCGACGC chr1:11429558-Reference-C;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Alternative A gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat CATAGCACCAAC CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttAggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAcatagcaccaacAGATCGAGACCCGACGC chr1:11429558-Alternative-A;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Reference C gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat CGTAGCGACCAT CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAcgtagcgaccatAGATCGAGACCCGACGC chr1:11429558-Reference-C;Patient-99 chr1:11429558-CT DeNovo Patient-99 intergenic NA 0.000513 -0.25 0.53 -1.87 UBIAD1 96302 Reference C gcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaat GTGCTTATTAGG CGACGCGGTCTCTCTCTgcagagttcttcaccattcattgatccagtgatttaatgaattcattcttCggcttgttagttcatcaaacatttacacgaagtagtttcccccattaatAGAGGGAGACGGACGTCTCAATAAgtgcttattaggAGATCGAGACCCGACGC chr1:11429558-Reference-C;Patient-99 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Variant A cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg ACGGTGATTATC CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAacggtgattatcAGATCGAGACCCGACGC chr1:12040252-Variant-A;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Variant A cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg CAACAGCACGAT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAcaacagcacgatAGATCGAGACCCGACGC chr1:12040252-Variant-A;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Variant A cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AATCGGCGGTAC CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaatcggcggtacAGATCGAGACCCGACGC chr1:12040252-Variant-A;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative C cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AACGAGGTGATT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaacgaggtgattAGATCGAGACCCGACGC chr1:12040252-Alternative-C;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative C cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg CGCGATGTGTTC CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAcgcgatgtgttcAGATCGAGACCCGACGC chr1:12040252-Alternative-C;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Variant A cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg ACTTAAGGCTGT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAacttaaggctgtAGATCGAGACCCGACGC chr1:12040252-Variant-A;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative C cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GACGAAGAGTGT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAgacgaagagtgtAGATCGAGACCCGACGC chr1:12040252-Alternative-C;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative C cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg ACCGTCGCTGTT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaccgtcgctgttAGATCGAGACCCGACGC chr1:12040252-Alternative-C;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative C cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AAGTGCTTGCGG CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaCtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaagtgcttgcggAGATCGAGACCCGACGC chr1:12040252-Alternative-C;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative T cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GAATGTACGAGA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAgaatgtacgagaAGATCGAGACCCGACGC chr1:12040252-Alternative-T;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Variant A cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AGGCCATCAACA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaAtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaggccatcaacaAGATCGAGACCCGACGC chr1:12040252-Variant-A;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Reference G cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AGGTGTAGCATA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaggtgtagcataAGATCGAGACCCGACGC chr1:12040252-Reference-G;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Reference G cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AACTTACCGTGA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaacttaccgtgaAGATCGAGACCCGACGC chr1:12040252-Reference-G;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Reference G cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GTACGCACGGTT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAgtacgcacggttAGATCGAGACCCGACGC chr1:12040252-Reference-G;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Reference G cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg CTGAGGCATGAG CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAActgaggcatgagAGATCGAGACCCGACGC chr1:12040252-Reference-G;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative T cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GGCGACATAAGA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAggcgacataagaAGATCGAGACCCGACGC chr1:12040252-Alternative-T;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative T cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg ACCGCAACCGAT CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAaccgcaaccgatAGATCGAGACCCGACGC chr1:12040252-Alternative-T;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Reference G cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GGTTCACGTCGA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaGtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAggttcacgtcgaAGATCGAGACCCGACGC chr1:12040252-Reference-G;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative T cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg AGCTCTCGATAA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAagctctcgataaAGATCGAGACCCGACGC chr1:12040252-Alternative-T;Patient-64 chr1:12040252-GA DeNovo Patient-64 5 prime UTR MFN2 NA 0.00016 1.38 15.28 3.65 MFN2 13 Alternative T cagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcg GGATGACTCTTA CGACGCGGTCTCTCTCTcagctccggccgacgcccaccggaactacagcccccatgatgcagtgggaTtccgagcctctgcgtcgtccgcttgggacgcgccggcggaggagtggcgAGAGGGAGACGGACGTCTCAATAAggatgactcttaAGATCGAGACCCGACGC chr1:12040252-Alternative-T;Patient-64 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative G tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AGTAGATTAGCG CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAagtagattagcgAGATCGAGACCCGACGC chr1:12661744-Alternative-G;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative G tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AATCGTAAGCGT CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAaatcgtaagcgtAGATCGAGACCCGACGC chr1:12661744-Alternative-G;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative G tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AAGTGTCGGTAA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAaagtgtcggtaaAGATCGAGACCCGACGC chr1:12661744-Alternative-G;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative G tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AATGTGCAGCAA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAaatgtgcagcaaAGATCGAGACCCGACGC chr1:12661744-Alternative-G;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Reference A tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta GTGTTGGCTGGT CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAgtgttggctggtAGATCGAGACCCGACGC chr1:12661744-Reference-A;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Reference A tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CGTACGTCGTTC CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAcgtacgtcgttcAGATCGAGACCCGACGC chr1:12661744-Reference-A;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative C tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta ACGATGAACGGC CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAacgatgaacggcAGATCGAGACCCGACGC chr1:12661744-Alternative-C;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Variant T tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CGGCCTGATTGT CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAcggcctgattgtAGATCGAGACCCGACGC chr1:12661744-Variant-T;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Variant T tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta GTACGAGCCGAT CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAgtacgagccgatAGATCGAGACCCGACGC chr1:12661744-Variant-T;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative G tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta GTAAGCCGATGA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagGcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAgtaagccgatgaAGATCGAGACCCGACGC chr1:12661744-Alternative-G;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative C tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta GGTATCGCACGA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAggtatcgcacgaAGATCGAGACCCGACGC chr1:12661744-Alternative-C;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Variant T tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CACTTCGGATAA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAcacttcggataaAGATCGAGACCCGACGC chr1:12661744-Variant-T;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative C tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CAAGCGTGCGAT CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAcaagcgtgcgatAGATCGAGACCCGACGC chr1:12661744-Alternative-C;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Reference A tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CTATCGGAGTCG CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAActatcggagtcgAGATCGAGACCCGACGC chr1:12661744-Reference-A;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Variant T tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta CGATCCACGGAA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAcgatccacggaaAGATCGAGACCCGACGC chr1:12661744-Variant-T;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Variant T tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta GTTGAACCGAAG CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagTcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAgttgaaccgaagAGATCGAGACCCGACGC chr1:12661744-Variant-T;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Reference A tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AGATCCTATGAG CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAagatcctatgagAGATCGAGACCCGACGC chr1:12661744-Reference-A;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Reference A tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AACTCCGTATGA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagAcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAaactccgtatgaAGATCGAGACCCGACGC chr1:12661744-Reference-A;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative C tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta AGCATACGGACG CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAagcatacggacgAGATCGAGACCCGACGC chr1:12661744-Alternative-C;Patient-79 chr1:12661744-AT DeNovo Patient-79 intronic DHRS3 0.000924 4.95e-05 -0.06 1.85 -4.53 DHRS3 16075 Alternative C tcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattcta ACCTTACCGCGA CGACGCGGTCTCTCTCTtcttccgtgaaactatcaaccaaaaggcaagactcattggttacaagcagCcaccctgggttccaatcctgctgggtcatttactagctgtgtgattctaAGAGGGAGACGGACGTCTCAATAAaccttaccgcgaAGATCGAGACCCGACGC chr1:12661744-Alternative-C;Patient-79 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Reference C gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GTACTTACACCA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgtacttacaccaAGATCGAGACCCGACGC chr1:1359810-Reference-C;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Reference C gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CGGATCTTAACA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAcggatcttaacaAGATCGAGACCCGACGC chr1:1359810-Reference-C;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Reference C gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt ACGCGATGCACA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAacgcgatgcacaAGATCGAGACCCGACGC chr1:1359810-Reference-C;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Reference C gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GAAGATGCAACT CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgaagatgcaactAGATCGAGACCCGACGC chr1:1359810-Reference-C;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Reference C gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CTAAGCATCGCG CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaCggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAActaagcatcgcgAGATCGAGACCCGACGC chr1:1359810-Reference-C;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative A gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GATCGACTGACA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgatcgactgacaAGATCGAGACCCGACGC chr1:1359810-Alternative-A;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative A gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GCGTTATCGTCC CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgcgttatcgtccAGATCGAGACCCGACGC chr1:1359810-Alternative-A;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative A gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CGGCATATAGAA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAcggcatatagaaAGATCGAGACCCGACGC chr1:1359810-Alternative-A;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative A gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CAGTTGACTCGG CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAcagttgactcggAGATCGAGACCCGACGC chr1:1359810-Alternative-A;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative A gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GCCGCGTATGTT CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaAggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgccgcgtatgttAGATCGAGACCCGACGC chr1:1359810-Alternative-A;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Variant T gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt ACGACACGACGA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAacgacacgacgaAGATCGAGACCCGACGC chr1:1359810-Variant-T;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Variant T gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CGCCGTATTAAT CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAcgccgtattaatAGATCGAGACCCGACGC chr1:1359810-Variant-T;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Variant T gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt ATCTCAAGGCGA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAatctcaaggcgaAGATCGAGACCCGACGC chr1:1359810-Variant-T;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Variant T gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt AGACCTTACACT CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAagaccttacactAGATCGAGACCCGACGC chr1:1359810-Variant-T;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Variant T gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt ATAGTTGTGCAC CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaTggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAatagttgtgcacAGATCGAGACCCGACGC chr1:1359810-Variant-T;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative G gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GTTAATCAACGG CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgttaatcaacggAGATCGAGACCCGACGC chr1:1359810-Alternative-G;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative G gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt AATCTCATACGG CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAaatctcatacggAGATCGAGACCCGACGC chr1:1359810-Alternative-G;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative G gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt GCCTTAACGAGA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAgccttaacgagaAGATCGAGACCCGACGC chr1:1359810-Alternative-G;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative G gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt AGGAACTTGACA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAaggaacttgacaAGATCGAGACCCGACGC chr1:1359810-Alternative-G;Patient-30 chr1:1359810-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DVL1 75317 Alternative G gggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcacttt CGCGACTTCAGA CGACGCGGTCTCTCTCTgggaacggctcagctcacagacacctactcctgtcaattaattatgaacaGggagctggaggctgggcatagtggctcacgtctgtaatcccagcactttAGAGGGAGACGGACGTCTCAATAAcgcgacttcagaAGATCGAGACCCGACGC chr1:1359810-Alternative-G;Patient-30 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Variant C aaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctg CACGGTTCGAAG CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAcacggttcgaagAGATCGAGACCCGACGC chr1:149934460-Variant-C;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Variant C aaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AGCTAGATGCGA CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAagctagatgcgaAGATCGAGACCCGACGC chr1:149934460-Variant-C;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Variant C aaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctg CGACTCGCACTT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAcgactcgcacttAGATCGAGACCCGACGC chr1:149934460-Variant-C;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Variant C aaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AGCCGTCCTTGT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAagccgtccttgtAGATCGAGACCCGACGC chr1:149934460-Variant-C;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative A aaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AAGTTCCGAATC CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAaagttccgaatcAGATCGAGACCCGACGC chr1:149934460-Alternative-A;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Reference T aaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctg ACGGTAAGCGCT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAacggtaagcgctAGATCGAGACCCGACGC chr1:149934460-Reference-T;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Reference T aaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GTATCGACTACA CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgtatcgactacaAGATCGAGACCCGACGC chr1:149934460-Reference-T;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative A aaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctg CGCTACACGCAT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAcgctacacgcatAGATCGAGACCCGACGC chr1:149934460-Alternative-A;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative A aaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AGCTGTTCGTGG CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAagctgttcgtggAGATCGAGACCCGACGC chr1:149934460-Alternative-A;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative A aaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GTTATGCTAGGT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgttatgctaggtAGATCGAGACCCGACGC chr1:149934460-Alternative-A;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative A aaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AAGTCAACGCCA CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgAtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAaagtcaacgccaAGATCGAGACCCGACGC chr1:149934460-Alternative-A;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Variant C aaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctg ATTCATAGGCGA CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgCtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAattcataggcgaAGATCGAGACCCGACGC chr1:149934460-Variant-C;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative G aaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GTGTACGCACGT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgtgtacgcacgtAGATCGAGACCCGACGC chr1:149934460-Alternative-G;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative G aaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AGAGTTGACGAT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAagagttgacgatAGATCGAGACCCGACGC chr1:149934460-Alternative-G;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Reference T aaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GACTAACGCAGT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgactaacgcagtAGATCGAGACCCGACGC chr1:149934460-Reference-T;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Reference T aaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GAATCGATATCG CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgaatcgatatcgAGATCGAGACCCGACGC chr1:149934460-Reference-T;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Reference T aaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctg GATGACGAAGTT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgTtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAgatgacgaagttAGATCGAGACCCGACGC chr1:149934460-Reference-T;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative G aaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctg ACGTGACTTCTT CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAacgtgacttcttAGATCGAGACCCGACGC chr1:149934460-Alternative-G;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative G aaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctg CGTCGCATGTTC CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAcgtcgcatgttcAGATCGAGACCCGACGC chr1:149934460-Alternative-G;Patient-79 chr1:149934460-TC DeNovo Patient-79 intronic OTUD7B NA 4.95e-05 -0.1 1.4 -1.75 OTUD7B 48225 Alternative G aaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctg AGCCACTCCAAC CGACGCGGTCTCTCTCTaaaaggactaaaactattgctccattactagccactattctctatgcatgGtggggactttcagatggaaaggctgactttgagagggaaaggctggctgAGAGGGAGACGGACGTCTCAATAAagccactccaacAGATCGAGACCCGACGC chr1:149934460-Alternative-G;Patient-79 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Variant A tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AGTTCACAAGCT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAagttcacaagctAGATCGAGACCCGACGC chr1:150781960-Variant-A;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Variant A tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CACAACACCATT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAcacaacaccattAGATCGAGACCCGACGC chr1:150781960-Variant-A;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Variant A tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GCGAATATGTGA CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgcgaatatgtgaAGATCGAGACCCGACGC chr1:150781960-Variant-A;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Reference C tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CGTGCTGCCATA CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAcgtgctgccataAGATCGAGACCCGACGC chr1:150781960-Reference-C;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Reference C tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AGGCAAGAACGG CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAaggcaagaacggAGATCGAGACCCGACGC chr1:150781960-Reference-C;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Reference C tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AATGCGACACGT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAaatgcgacacgtAGATCGAGACCCGACGC chr1:150781960-Reference-C;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Variant A tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AGATAGCTACGG CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAagatagctacggAGATCGAGACCCGACGC chr1:150781960-Variant-A;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative T tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GAGTGTAGTAAC CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgagtgtagtaacAGATCGAGACCCGACGC chr1:150781960-Alternative-T;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative T tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CGAAGCTAGATT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAcgaagctagattAGATCGAGACCCGACGC chr1:150781960-Alternative-T;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Reference C tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc ACGTGACGCAAT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAacgtgacgcaatAGATCGAGACCCGACGC chr1:150781960-Reference-C;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Reference C tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CGGAATCGACGA CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacCtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAcggaatcgacgaAGATCGAGACCCGACGC chr1:150781960-Reference-C;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Variant A tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GCGGATCAACAC CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacAtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgcggatcaacacAGATCGAGACCCGACGC chr1:150781960-Variant-A;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative T tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AGGACCGGCAAT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAaggaccggcaatAGATCGAGACCCGACGC chr1:150781960-Alternative-T;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative T tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AAGTCGTTCTTC CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAaagtcgttcttcAGATCGAGACCCGACGC chr1:150781960-Alternative-T;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative T tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc AGTCAAGACGAT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacTtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAagtcaagacgatAGATCGAGACCCGACGC chr1:150781960-Alternative-T;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative G tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GCCTTAGTCGTC CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgccttagtcgtcAGATCGAGACCCGACGC chr1:150781960-Alternative-G;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative G tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GTGAACTTCGAT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgtgaacttcgatAGATCGAGACCCGACGC chr1:150781960-Alternative-G;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative G tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc GACGTATCGCGT CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAgacgtatcgcgtAGATCGAGACCCGACGC chr1:150781960-Alternative-G;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative G tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CAACAGCAACGG CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAAcaacagcaacggAGATCGAGACCCGACGC chr1:150781960-Alternative-G;Patient-68 chr1:150781960-CA Inherited Patient-68 intergenic 0.000492 0.000319 -0.1 1.39 0.59 ARNT 67283 Alternative G tctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaaccc CTCGTACTAACG CGACGCGGTCTCTCTCTtctactaaaaaaaaaaaacacaaaaattagctgggcatggtggcacacacGtgtagtgccagctacttgggaagctgaggcaggagaattgcttgaacccAGAGGGAGACGGACGTCTCAATAActcgtactaacgAGATCGAGACCCGACGC chr1:150781960-Alternative-G;Patient-68 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative G tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga ACAGATGGCGGT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAacagatggcggtAGATCGAGACCCGACGC chr1:150828666-Alternative-G;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative G tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CGACTGGACAAC CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAcgactggacaacAGATCGAGACCCGACGC chr1:150828666-Alternative-G;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative A tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTCTCGGACCTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgtctcggaccttAGATCGAGACCCGACGC chr1:150828666-Alternative-A;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative G tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTACTCCGCGTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgtactccgcgttAGATCGAGACCCGACGC chr1:150828666-Alternative-G;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Variant T tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTTGTAGGTGTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgttgtaggtgttAGATCGAGACCCGACGC chr1:150828666-Variant-T;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Variant T tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GCGACTAAGGCA CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgcgactaaggcaAGATCGAGACCCGACGC chr1:150828666-Variant-T;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Variant T tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTTCAACGACAT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgttcaacgacatAGATCGAGACCCGACGC chr1:150828666-Variant-T;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative G tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTCTATAGGCTA CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgtctataggctaAGATCGAGACCCGACGC chr1:150828666-Alternative-G;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Variant T tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GACGCTATCGAG CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgacgctatcgagAGATCGAGACCCGACGC chr1:150828666-Variant-T;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative A tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CTTGGTTAGACG CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAActtggttagacgAGATCGAGACCCGACGC chr1:150828666-Alternative-A;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative A tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GGATCTCGACGA CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAggatctcgacgaAGATCGAGACCCGACGC chr1:150828666-Alternative-A;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative G tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CGTGGAGTGCTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccGgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAcgtggagtgcttAGATCGAGACCCGACGC chr1:150828666-Alternative-G;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Variant T tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga ACAACAGGACCT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccTgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAacaacaggacctAGATCGAGACCCGACGC chr1:150828666-Variant-T;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative A tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CGTTACTCAACG CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAcgttactcaacgAGATCGAGACCCGACGC chr1:150828666-Alternative-A;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Alternative A tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga GTGTTCGCGGTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccAgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAgtgttcgcggttAGATCGAGACCCGACGC chr1:150828666-Alternative-A;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Reference C tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga ATCTGCGATGTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAatctgcgatgttAGATCGAGACCCGACGC chr1:150828666-Reference-C;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Reference C tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CGGATTCTGACG CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAcggattctgacgAGATCGAGACCCGACGC chr1:150828666-Reference-C;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Reference C tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga CAGTTGACGTGC CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAcagttgacgtgcAGATCGAGACCCGACGC chr1:150828666-Reference-C;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Reference C tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga AATGCGGCGACT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAaatgcggcgactAGATCGAGACCCGACGC chr1:150828666-Reference-C;Patient-25 chr1:150828666-CT Inherited Patient-25 intronic ARNT NA 4.95e-05 0.06 3.54 0.05 ARNT 20577 Reference C tttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgaga AGCTCGATAGTT CGACGCGGTCTCTCTCTtttctttaaaagaaatatgggccgggtgcagtggctcgtgcctgtaatccCgcacttcgggaggccaaggcgggtggatcacgaggtcaggagatcgagaAGAGGGAGACGGACGTCTCAATAAagctcgatagttAGATCGAGACCCGACGC chr1:150828666-Reference-C;Patient-25 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Reference A aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaa AACTCACGGCGT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAaactcacggcgtAGATCGAGACCCGACGC chr1:153381903-Reference-A;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Reference A aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaa ATTACTGACGCA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAattactgacgcaAGATCGAGACCCGACGC chr1:153381903-Reference-A;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative T aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaa CGAACGACTGGT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAcgaacgactggtAGATCGAGACCCGACGC chr1:153381903-Alternative-T;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative T aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaa ACTTGCTGCATT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAacttgctgcattAGATCGAGACCCGACGC chr1:153381903-Alternative-T;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Reference A aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaa AGAGCTGTTCAT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAagagctgttcatAGATCGAGACCCGACGC chr1:153381903-Reference-A;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Variant G aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaa GTTACGTCGTCG CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAgttacgtcgtcgAGATCGAGACCCGACGC chr1:153381903-Variant-G;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Variant G aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaa ATAGATACCGTC CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAatagataccgtcAGATCGAGACCCGACGC chr1:153381903-Variant-G;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Reference A aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaa GACATTCATCGC CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAgacattcatcgcAGATCGAGACCCGACGC chr1:153381903-Reference-A;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative T aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaa AAGGAATGCCTA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAaaggaatgcctaAGATCGAGACCCGACGC chr1:153381903-Alternative-T;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Variant G aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaa AGACGACGGTGT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAagacgacggtgtAGATCGAGACCCGACGC chr1:153381903-Variant-G;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative T aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaa CAAGCGGCAAGA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAcaagcggcaagaAGATCGAGACCCGACGC chr1:153381903-Alternative-T;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative C aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaa AGGCTGACACCA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAaggctgacaccaAGATCGAGACCCGACGC chr1:153381903-Alternative-C;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Reference A aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaa GATGACCAACTT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaActatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAgatgaccaacttAGATCGAGACCCGACGC chr1:153381903-Reference-A;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative T aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaa GACGTAATGAGT CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaTctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAgacgtaatgagtAGATCGAGACCCGACGC chr1:153381903-Alternative-T;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Variant G aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaa CTACGAACGATA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAActacgaacgataAGATCGAGACCCGACGC chr1:153381903-Variant-G;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Variant G aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaa CTTGGTCGAATA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaGctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAActtggtcgaataAGATCGAGACCCGACGC chr1:153381903-Variant-G;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative C aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaa AGTTAACCAGTC CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAagttaaccagtcAGATCGAGACCCGACGC chr1:153381903-Alternative-C;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative C aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaa AATCGAGAGTAC CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAaatcgagagtacAGATCGAGACCCGACGC chr1:153381903-Alternative-C;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative C aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaa GCCAGGTAGTCA CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAgccaggtagtcaAGATCGAGACCCGACGC chr1:153381903-Alternative-C;Patient-35 chr1:153381903-AG DeNovo Patient-35 intergenic 0.000509 6.28e-05 0.19 5.63 0 PGLYRP4 60880 Alternative C aagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaa CAATTAGGAACG CGACGCGGTCTCTCTCTaagaaggccattacatagtggtaaaggggtcaattcaacaagaagagctaCctatcctaaatatatatgcacccaatacaggaacacccagattcataaaAGAGGGAGACGGACGTCTCAATAAcaattaggaacgAGATCGAGACCCGACGC chr1:153381903-Alternative-C;Patient-35 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Variant C caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GCAACTCAACAC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAgcaactcaacacAGATCGAGACCCGACGC chr1:154335874-Variant-C;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Variant C caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga AACAGACTCGAA CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAaacagactcgaaAGATCGAGACCCGACGC chr1:154335874-Variant-C;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Variant C caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga AACTTGCGACGC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAaacttgcgacgcAGATCGAGACCCGACGC chr1:154335874-Variant-C;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Variant C caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CGAAGATTGGAT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAcgaagattggatAGATCGAGACCCGACGC chr1:154335874-Variant-C;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Reference A caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CTCGTAGATCAA CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAActcgtagatcaaAGATCGAGACCCGACGC chr1:154335874-Reference-A;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Variant C caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga ACATCAAGTGCG CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaCaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAacatcaagtgcgAGATCGAGACCCGACGC chr1:154335874-Variant-C;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Reference A caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GTACTCATCGGC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAgtactcatcggcAGATCGAGACCCGACGC chr1:154335874-Reference-A;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Reference A caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga ATCACGTAGCGG CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAatcacgtagcggAGATCGAGACCCGACGC chr1:154335874-Reference-A;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative G caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CGGCGAAGGATA CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAcggcgaaggataAGATCGAGACCCGACGC chr1:154335874-Alternative-G;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative T caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GGCTCCGTTGTT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAggctccgttgttAGATCGAGACCCGACGC chr1:154335874-Alternative-T;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Reference A caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GGTGTAATGCTT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAggtgtaatgcttAGATCGAGACCCGACGC chr1:154335874-Reference-A;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative G caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga ATCGTAACGGAA CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAatcgtaacggaaAGATCGAGACCCGACGC chr1:154335874-Alternative-G;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Reference A caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga ACTTACCATCGT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaAaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAacttaccatcgtAGATCGAGACCCGACGC chr1:154335874-Reference-A;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative T caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CGAGTAGATAGT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAcgagtagatagtAGATCGAGACCCGACGC chr1:154335874-Alternative-T;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative G caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CGTACGGAATAA CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAcgtacggaataaAGATCGAGACCCGACGC chr1:154335874-Alternative-G;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative T caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GTATTCCGAACC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAgtattccgaaccAGATCGAGACCCGACGC chr1:154335874-Alternative-T;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative G caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GTTGAGCTTAGT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAgttgagcttagtAGATCGAGACCCGACGC chr1:154335874-Alternative-G;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative T caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga AGTTACGCCATC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAagttacgccatcAGATCGAGACCCGACGC chr1:154335874-Alternative-T;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative G caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga GCATGACCAACT CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaGaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAAgcatgaccaactAGATCGAGACCCGACGC chr1:154335874-Alternative-G;Patient-66 chr1:154335874-AC DeNovo Patient-66 intergenic 0.000162 0.000513 0.03 3.15 0.53 IL6R 41794 Alternative T caaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatga CTGTCTATGCGC CGACGCGGTCTCTCTCTcaaataaccaatgcatgatgttacaaaattttgtatagtaaaaaaaaaaaTaacaacgtgcaagatagaacaatggattttaatgaacaaaaaaatatgaAGAGGGAGACGGACGTCTCAATAActgtctatgcgcAGATCGAGACCCGACGC chr1:154335874-Alternative-T;Patient-66 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative G aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag ACGCGTATGTGC CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAacgcgtatgtgcAGATCGAGACCCGACGC chr1:154422248-Alternative-G;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative G aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag ACGTGTAACGAA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAacgtgtaacgaaAGATCGAGACCCGACGC chr1:154422248-Alternative-G;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Variant T aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag AATCGTAGGTGT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAaatcgtaggtgtAGATCGAGACCCGACGC chr1:154422248-Variant-T;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative G aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag AATGGTGTCGGC CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAaatggtgtcggcAGATCGAGACCCGACGC chr1:154422248-Alternative-G;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Variant T aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GAGTGTTATCCT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgagtgttatcctAGATCGAGACCCGACGC chr1:154422248-Variant-T;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Variant T aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GATTCCATACAG CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgattccatacagAGATCGAGACCCGACGC chr1:154422248-Variant-T;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative G aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag CGAACTCACATA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAcgaactcacataAGATCGAGACCCGACGC chr1:154422248-Alternative-G;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Variant T aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag CAGTACACCAAT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAcagtacaccaatAGATCGAGACCCGACGC chr1:154422248-Variant-T;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative G aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag CGGCGTAGTGAA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcGactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAcggcgtagtgaaAGATCGAGACCCGACGC chr1:154422248-Alternative-G;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Reference C aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GTTATCGGCGGT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgttatcggcggtAGATCGAGACCCGACGC chr1:154422248-Reference-C;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative A aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag AGTGTCGGCGTT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAagtgtcggcgttAGATCGAGACCCGACGC chr1:154422248-Alternative-A;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Reference C aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag ATATAGCCGACT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAatatagccgactAGATCGAGACCCGACGC chr1:154422248-Reference-C;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Reference C aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag CGAATCGCGTGA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAcgaatcgcgtgaAGATCGAGACCCGACGC chr1:154422248-Reference-C;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Variant T aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag AAGATAGCAACC CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcTactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAaagatagcaaccAGATCGAGACCCGACGC chr1:154422248-Variant-T;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative A aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GCCGGTATAGGT CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgccggtataggtAGATCGAGACCCGACGC chr1:154422248-Alternative-A;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Reference C aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GAGTATCACGCA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgagtatcacgcaAGATCGAGACCCGACGC chr1:154422248-Reference-C;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative A aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag CTAGCCGCATAA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAActagccgcataaAGATCGAGACCCGACGC chr1:154422248-Alternative-A;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative A aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag GTAACGCTTCAA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAgtaacgcttcaaAGATCGAGACCCGACGC chr1:154422248-Alternative-A;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Reference C aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag ACGTGGTCTGAC CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcCactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAacgtggtctgacAGATCGAGACCCGACGC chr1:154422248-Reference-C;Patient-49 chr1:154422248-CT DeNovo Patient-49 intronic IL6R 3.2e-05 0.000445 0.14 4.97 0.5 IL6R 44578 Alternative A aggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggag ATTGCGTTGTGA CGACGCGGTCTCTCTCTaggcatggtgtggatagaaaaaatgcaaataatagtattattgatttttcAactgttatgaatgaaatggagaaaggaatgctttgggtggatcagggagAGAGGGAGACGGACGTCTCAATAAattgcgttgtgaAGATCGAGACCCGACGC chr1:154422248-Alternative-A;Patient-49 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative A gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct AGCTTAGGACGG CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAagcttaggacggAGATCGAGACCCGACGC chr1:154448292-Alternative-A;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Reference C gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct ACGATAGACAAC CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAacgatagacaacAGATCGAGACCCGACGC chr1:154448292-Reference-C;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Reference C gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct AGATTGTGACGA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAagattgtgacgaAGATCGAGACCCGACGC chr1:154448292-Reference-C;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Reference C gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct CAGATCCTTGTT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAcagatccttgttAGATCGAGACCCGACGC chr1:154448292-Reference-C;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Reference C gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GACTATGCGCTT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAgactatgcgcttAGATCGAGACCCGACGC chr1:154448292-Reference-C;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Reference C gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GTTCGTTGGCGA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgCccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAgttcgttggcgaAGATCGAGACCCGACGC chr1:154448292-Reference-C;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative A gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GGAGATGGTACA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAggagatggtacaAGATCGAGACCCGACGC chr1:154448292-Alternative-A;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative G gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct CGTTCGCTTGGT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAcgttcgcttggtAGATCGAGACCCGACGC chr1:154448292-Alternative-G;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative G gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GATCAATGCGCG CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAgatcaatgcgcgAGATCGAGACCCGACGC chr1:154448292-Alternative-G;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Variant T gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct ACGGCATACTTA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAacggcatacttaAGATCGAGACCCGACGC chr1:154448292-Variant-T;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative G gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct AGTCGTTCCAGG CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAagtcgttccaggAGATCGAGACCCGACGC chr1:154448292-Alternative-G;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Variant T gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct ATCAACGTCTGA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAatcaacgtctgaAGATCGAGACCCGACGC chr1:154448292-Variant-T;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative G gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GATGTTCACCGG CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAgatgttcaccggAGATCGAGACCCGACGC chr1:154448292-Alternative-G;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Variant T gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct CACGTACAGATT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAcacgtacagattAGATCGAGACCCGACGC chr1:154448292-Variant-T;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Variant T gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct CGCTGTGTCTGA CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAcgctgtgtctgaAGATCGAGACCCGACGC chr1:154448292-Variant-T;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative G gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GAGTGCTCAATT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgGccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAgagtgctcaattAGATCGAGACCCGACGC chr1:154448292-Alternative-G;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Variant T gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct ATCATGTCTCGT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgTccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAatcatgtctcgtAGATCGAGACCCGACGC chr1:154448292-Variant-T;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative A gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct ACCGTGCTTGTC CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAaccgtgcttgtcAGATCGAGACCCGACGC chr1:154448292-Alternative-A;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative A gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct CGTGAAGCGTGT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAcgtgaagcgtgtAGATCGAGACCCGACGC chr1:154448292-Alternative-A;Patient-44 chr1:154448292-CT Inherited Patient-44 intergenic NA 6.28e-05 0.49 9.32 0.46 IL6R 70622 Alternative A gtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacct GGCTTACCATAT CGACGCGGTCTCTCTCTgtggttcattgtattcatttctttttttgagacagtgtctcactctgttgAccaggctggagtgtagtggcacaatctcagctaactgcaacctccacctAGAGGGAGACGGACGTCTCAATAAggcttaccatatAGATCGAGACCCGACGC chr1:154448292-Alternative-A;Patient-44 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative T atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta ACTAAGGACGAT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAactaaggacgatAGATCGAGACCCGACGC chr1:154968613-Alternative-T;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative T atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GTTACTCTCGAT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgttactctcgatAGATCGAGACCCGACGC chr1:154968613-Alternative-T;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Variant C atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta AACGAGCACGCT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAaacgagcacgctAGATCGAGACCCGACGC chr1:154968613-Variant-C;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative A atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta CGGTCATTACGG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAcggtcattacggAGATCGAGACCCGACGC chr1:154968613-Alternative-A;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative T atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta AGAATCGGAACT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAagaatcggaactAGATCGAGACCCGACGC chr1:154968613-Alternative-T;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative A atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GGACACCATACG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAggacaccatacgAGATCGAGACCCGACGC chr1:154968613-Alternative-A;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative A atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta CATTCGGCTGAG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAcattcggctgagAGATCGAGACCCGACGC chr1:154968613-Alternative-A;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative T atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta CGTCAAGCAGCT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAcgtcaagcagctAGATCGAGACCCGACGC chr1:154968613-Alternative-T;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Variant C atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GCATCGTGACTA CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgcatcgtgactaAGATCGAGACCCGACGC chr1:154968613-Variant-C;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Variant C atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta CATCTCCGAAGG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAcatctccgaaggAGATCGAGACCCGACGC chr1:154968613-Variant-C;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative A atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GTCGCTTGTTCG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgtcgcttgttcgAGATCGAGACCCGACGC chr1:154968613-Alternative-A;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Variant C atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta AATCTAGCGTTC CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAaatctagcgttcAGATCGAGACCCGACGC chr1:154968613-Variant-C;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative A atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GGCTCTATAAGA CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgAaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAggctctataagaAGATCGAGACCCGACGC chr1:154968613-Alternative-A;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Variant C atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GTACTCATGCGC CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgCaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgtactcatgcgcAGATCGAGACCCGACGC chr1:154968613-Variant-C;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Reference G atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta ACAAGCTCGTGG CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAacaagctcgtggAGATCGAGACCCGACGC chr1:154968613-Reference-G;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Reference G atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GATGTCGGAATA CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgatgtcggaataAGATCGAGACCCGACGC chr1:154968613-Reference-G;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Reference G atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta ACCGCAATACTA CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAaccgcaatactaAGATCGAGACCCGACGC chr1:154968613-Reference-G;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Reference G atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GTCATCGGATAT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgtcatcggatatAGATCGAGACCCGACGC chr1:154968613-Reference-G;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Alternative T atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta GTCCGGAGTAGT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgTaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAAgtccggagtagtAGATCGAGACCCGACGC chr1:154968613-Alternative-T;Patient-101 chr1:154968613-GC DeNovo Patient-101 intergenic 6.4e-05 0.000513 -0.03 2.17 1.25 FLAD1 12842 Reference G atgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagctttta CTAGCTTATCGT CGACGCGGTCTCTCTCTatgttattagatgataggcactatagaaaaaagaagtggaaatcgagctgGaggtgggaatgggggcaggtcatagagggcctaagaatttgagcttttaAGAGGGAGACGGACGTCTCAATAActagcttatcgtAGATCGAGACCCGACGC chr1:154968613-Reference-G;Patient-101 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Reference C ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GCGACCTTGAGT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgcgaccttgagtAGATCGAGACCCGACGC chr1:155054071-Reference-C;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Reference C ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt AACGAGATGCTA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAaacgagatgctaAGATCGAGACCCGACGC chr1:155054071-Reference-C;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Variant G ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GTCATTAAGCGT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgtcattaagcgtAGATCGAGACCCGACGC chr1:155054071-Variant-G;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Reference C ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt AGCCGGTCCTAA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAagccggtcctaaAGATCGAGACCCGACGC chr1:155054071-Reference-C;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Variant G ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt ACCAAGCCAATA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAaccaagccaataAGATCGAGACCCGACGC chr1:155054071-Variant-G;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Variant G ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt ATTGTGCCGACG CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAattgtgccgacgAGATCGAGACCCGACGC chr1:155054071-Variant-G;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Variant G ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt ACGCTTAACAAC CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAacgcttaacaacAGATCGAGACCCGACGC chr1:155054071-Variant-G;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative T ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt ATTCTACGCGGC CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAattctacgcggcAGATCGAGACCCGACGC chr1:155054071-Alternative-T;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Reference C ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GCAGGTAATGAG CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgcaggtaatgagAGATCGAGACCCGACGC chr1:155054071-Reference-C;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative T ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt CGATGCGTCTGT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAcgatgcgtctgtAGATCGAGACCCGACGC chr1:155054071-Alternative-T;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative T ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GCCAAGTACGAC CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgccaagtacgacAGATCGAGACCCGACGC chr1:155054071-Alternative-T;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Variant G ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GATTGCAATCGT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttGtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgattgcaatcgtAGATCGAGACCCGACGC chr1:155054071-Variant-G;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative T ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt CTCGTGGTTCCA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAActcgtggttccaAGATCGAGACCCGACGC chr1:155054071-Alternative-T;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative A ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt AAGACGCGGACA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAaagacgcggacaAGATCGAGACCCGACGC chr1:155054071-Alternative-A;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative A ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt AACGTTCATCCT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAaacgttcatcctAGATCGAGACCCGACGC chr1:155054071-Alternative-A;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative T ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GGTGAACTATGA CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttTtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAggtgaactatgaAGATCGAGACCCGACGC chr1:155054071-Alternative-T;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative A ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt ACCGGACCATAT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAaccggaccatatAGATCGAGACCCGACGC chr1:155054071-Alternative-A;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative A ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GCGTATGTTCTT CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgcgtatgttcttAGATCGAGACCCGACGC chr1:155054071-Alternative-A;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Alternative A ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt GATTCGTTAACG CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttAtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAgattcgttaacgAGATCGAGACCCGACGC chr1:155054071-Alternative-A;Patient-55 chr1:155054071-CG Inherited Patient-55 intronic EFNA3 0.000924 0.000198 1.07 13.74 -0.47 EFNA3 2722 Reference C ttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgt CATCGGATTGCG CGACGCGGTCTCTCTCTttcattcaacaaatatttattgaggctctactacgtccctgatggtctttCtctgtgttttctcccagtctctgagtctcagccttgcacccttccctgtAGAGGGAGACGGACGTCTCAATAAcatcggattgcgAGATCGAGACCCGACGC chr1:155054071-Reference-C;Patient-55 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Reference C accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CTACCGTCACAG CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAActaccgtcacagAGATCGAGACCCGACGC chr1:155085623-Reference-C;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Reference C accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca AGATATACGGCA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAagatatacggcaAGATCGAGACCCGACGC chr1:155085623-Reference-C;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Reference C accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CAAGCGGTTCGA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcaagcggttcgaAGATCGAGACCCGACGC chr1:155085623-Reference-C;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Variant A accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CTGAGGTTCGGT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAActgaggttcggtAGATCGAGACCCGACGC chr1:155085623-Variant-A;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Variant A accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca ACACGGTCAATT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAacacggtcaattAGATCGAGACCCGACGC chr1:155085623-Variant-A;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Variant A accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CTTGGTAACATC CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAActtggtaacatcAGATCGAGACCCGACGC chr1:155085623-Variant-A;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative T accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CGTGTAGCTTAA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcgtgtagcttaaAGATCGAGACCCGACGC chr1:155085623-Alternative-T;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative T accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca GGCCGTAAGTTA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAggccgtaagttaAGATCGAGACCCGACGC chr1:155085623-Alternative-T;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Reference C accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CGTTCACGTGCT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcgttcacgtgctAGATCGAGACCCGACGC chr1:155085623-Reference-C;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative G accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca AGATGACGCCGA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAagatgacgccgaAGATCGAGACCCGACGC chr1:155085623-Alternative-G;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative G accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca GTAATACGCGAT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgtaatacgcgatAGATCGAGACCCGACGC chr1:155085623-Alternative-G;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative G accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca GCAGCAACAATA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgcagcaacaataAGATCGAGACCCGACGC chr1:155085623-Alternative-G;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative G accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CGATCCTCTCGA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcgatcctctcgaAGATCGAGACCCGACGC chr1:155085623-Alternative-G;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Reference C accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca ATACGCGGTCCA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaCctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAatacgcggtccaAGATCGAGACCCGACGC chr1:155085623-Reference-C;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Variant A accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca AATCTCATGCCT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAaatctcatgcctAGATCGAGACCCGACGC chr1:155085623-Variant-A;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative T accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca GATAGTGGTCAA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgatagtggtcaaAGATCGAGACCCGACGC chr1:155085623-Alternative-T;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Variant A accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca AGGCCATATATC CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaActgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAaggccatatatcAGATCGAGACCCGACGC chr1:155085623-Variant-A;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative T accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca ACCACGTCCACT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAaccacgtccactAGATCGAGACCCGACGC chr1:155085623-Alternative-T;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative T accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca CGGTGGTATGCT CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaTctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcggtggtatgctAGATCGAGACCCGACGC chr1:155085623-Alternative-T;Patient-40 chr1:155085623-CA DeNovo Patient-40 intergenic NA 0.000512821 0.04 3.18 0 EFNA1 14725 Alternative G accctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtca AGAATGCGTACA CGACGCGGTCTCTCTCTaccctggcactactaaaatacaaaaaattggccgtgtgcagtggctcacaGctgtaatcccaacactttgggaggctgaggcaggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAagaatgcgtacaAGATCGAGACCCGACGC chr1:155085623-Alternative-G;Patient-40 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative A ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GAATGACCAGGT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAgaatgaccaggtAGATCGAGACCCGACGC chr1:155312861-Alternative-A;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative A ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GTAGCGGCTGTT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAgtagcggctgttAGATCGAGACCCGACGC chr1:155312861-Alternative-A;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative A ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct AGCGTCCTACAG CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAagcgtcctacagAGATCGAGACCCGACGC chr1:155312861-Alternative-A;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Variant C ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GCGTGGAACATC CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAgcgtggaacatcAGATCGAGACCCGACGC chr1:155312861-Variant-C;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative A ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct CGATAATGGCGC CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAcgataatggcgcAGATCGAGACCCGACGC chr1:155312861-Alternative-A;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative A ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GATTCGGTAGAA CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtAgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAgattcggtagaaAGATCGAGACCCGACGC chr1:155312861-Alternative-A;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Variant C ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct ATCTGTTCCGCG CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAatctgttccgcgAGATCGAGACCCGACGC chr1:155312861-Variant-C;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Variant C ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GACGGCGCTATT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAgacggcgctattAGATCGAGACCCGACGC chr1:155312861-Variant-C;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Variant C ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GGATGTCGACAG CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAggatgtcgacagAGATCGAGACCCGACGC chr1:155312861-Variant-C;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Reference G ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct ACGGCACACATC CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAacggcacacatcAGATCGAGACCCGACGC chr1:155312861-Reference-G;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Reference G ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct CAGTTGCGAATT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAcagttgcgaattAGATCGAGACCCGACGC chr1:155312861-Reference-G;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Reference G ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct AAGCGGACGTGA CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAaagcggacgtgaAGATCGAGACCCGACGC chr1:155312861-Reference-G;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative T ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct AGCTGTAACCGC CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAagctgtaaccgcAGATCGAGACCCGACGC chr1:155312861-Alternative-T;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Reference G ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct CTGTCAATTCGT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAActgtcaattcgtAGATCGAGACCCGACGC chr1:155312861-Reference-G;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Reference G ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct AGACGTTACCGG CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtGgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAagacgttaccggAGATCGAGACCCGACGC chr1:155312861-Reference-G;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative T ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct CGTAGTTCGAAT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAcgtagttcgaatAGATCGAGACCCGACGC chr1:155312861-Alternative-T;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Variant C ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct CGCTATCGTACC CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtCgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAcgctatcgtaccAGATCGAGACCCGACGC chr1:155312861-Variant-C;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative T ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct AGCTTGCATCGG CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAagcttgcatcggAGATCGAGACCCGACGC chr1:155312861-Alternative-T;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative T ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct GGCGTAACGTCA CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAggcgtaacgtcaAGATCGAGACCCGACGC chr1:155312861-Alternative-T;Patient-90 chr1:155312861-GC DeNovo Patient-90 intronic ASH1L 9.6e-05 9.9e-05 0.13 4.83 0.64 GBA 98207 Alternative T ttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcct ATTCCGTCAGTT CGACGCGGTCTCTCTCTttttttttttgaggcagggtttcattctgttgcacaggttggagtgcagtTgtgcgatcttggctcactgcaacctctgcctcccaggctcagcaatcctAGAGGGAGACGGACGTCTCAATAAattccgtcagttAGATCGAGACCCGACGC chr1:155312861-Alternative-T;Patient-90 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Reference C catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CGTAGGTTATCA CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAcgtaggttatcaAGATCGAGACCCGACGC chr1:155962352-Reference-C;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Reference C catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa GGCGCGACTAAT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAggcgcgactaatAGATCGAGACCCGACGC chr1:155962352-Reference-C;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Reference C catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa ATCTCTTCGTCT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAatctcttcgtctAGATCGAGACCCGACGC chr1:155962352-Reference-C;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative G catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa ACGACGAATCGG CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAacgacgaatcggAGATCGAGACCCGACGC chr1:155962352-Alternative-G;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Reference C catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AACTCAAGCCGC CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAaactcaagccgcAGATCGAGACCCGACGC chr1:155962352-Reference-C;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative A catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGGAGTTCGCGT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAaggagttcgcgtAGATCGAGACCCGACGC chr1:155962352-Alternative-A;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Variant T catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CTGGTGTAACGC CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAActggtgtaacgcAGATCGAGACCCGACGC chr1:155962352-Variant-T;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Reference C catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CTAAGGTGCGCT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagCcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAActaaggtgcgctAGATCGAGACCCGACGC chr1:155962352-Reference-C;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Variant T catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGCGGCAATCGT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAagcggcaatcgtAGATCGAGACCCGACGC chr1:155962352-Variant-T;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative A catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa ATCTCGGCAAGA CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAatctcggcaagaAGATCGAGACCCGACGC chr1:155962352-Alternative-A;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative G catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGCGCGATACCA CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAagcgcgataccaAGATCGAGACCCGACGC chr1:155962352-Alternative-G;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Variant T catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa ACTCGCATGTGG CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAactcgcatgtggAGATCGAGACCCGACGC chr1:155962352-Variant-T;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative A catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CGATTAGCGTCG CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAcgattagcgtcgAGATCGAGACCCGACGC chr1:155962352-Alternative-A;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Variant T catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGATCGCAAGTT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAagatcgcaagttAGATCGAGACCCGACGC chr1:155962352-Variant-T;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative A catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGAACCGCATTC CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAagaaccgcattcAGATCGAGACCCGACGC chr1:155962352-Alternative-A;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative G catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa ACTCACGTACTT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAactcacgtacttAGATCGAGACCCGACGC chr1:155962352-Alternative-G;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Variant T catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CAACATGTGGTT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagTcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAcaacatgtggttAGATCGAGACCCGACGC chr1:155962352-Variant-T;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative G catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa CGCAATATCCAA CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAcgcaatatccaaAGATCGAGACCCGACGC chr1:155962352-Alternative-G;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative A catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AACGCTCACACG CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagAcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAaacgctcacacgAGATCGAGACCCGACGC chr1:155962352-Alternative-A;Patient-94 chr1:155962352-CT DeNovo Patient-94 intergenic NA 0.000513 NA NA NA RXFP4 50871 Alternative G catgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaa AGGACGTAGTAT CGACGCGGTCTCTCTCTcatgatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagGcactgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaaAGAGGGAGACGGACGTCTCAATAAaggacgtagtatAGATCGAGACCCGACGC chr1:155962352-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative A atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag ACAACGGTATGC CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAacaacggtatgcAGATCGAGACCCGACGC chr1:155962356-Alternative-A;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Variant C atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag AGGCTAACGGAG CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAaggctaacggagAGATCGAGACCCGACGC chr1:155962356-Variant-C;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Variant C atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag CAGTAAGGAGAA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAcagtaaggagaaAGATCGAGACCCGACGC chr1:155962356-Variant-C;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Variant C atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GCGCACTGTACT CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgcgcactgtactAGATCGAGACCCGACGC chr1:155962356-Variant-C;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative A atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag AACGTGATCGAA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAaacgtgatcgaaAGATCGAGACCCGACGC chr1:155962356-Alternative-A;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Variant C atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag AATGACCGATGA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAaatgaccgatgaAGATCGAGACCCGACGC chr1:155962356-Variant-C;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative G atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GGAATGCACCAC CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAggaatgcaccacAGATCGAGACCCGACGC chr1:155962356-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Variant C atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GGAACGCATATC CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacCgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAggaacgcatatcAGATCGAGACCCGACGC chr1:155962356-Variant-C;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative G atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GTATAGGTATGG CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgtataggtatggAGATCGAGACCCGACGC chr1:155962356-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative G atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GCCGAACGAGAA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgccgaacgagaaAGATCGAGACCCGACGC chr1:155962356-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative A atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GCATCAACCGTT CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgcatcaaccgttAGATCGAGACCCGACGC chr1:155962356-Alternative-A;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative G atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag ACGAGCGGTATC CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAacgagcggtatcAGATCGAGACCCGACGC chr1:155962356-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative A atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag CATTGTCGTAGA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAcattgtcgtagaAGATCGAGACCCGACGC chr1:155962356-Alternative-A;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative A atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GTGTTCTTGACT CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacAgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgtgttcttgactAGATCGAGACCCGACGC chr1:155962356-Alternative-A;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Alternative G atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GAGCACATGAGA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacGgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgagcacatgagaAGATCGAGACCCGACGC chr1:155962356-Alternative-G;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Reference T atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag CGTCTAACATGA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAcgtctaacatgaAGATCGAGACCCGACGC chr1:155962356-Reference-T;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Reference T atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag ACCGATATAGTC CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAaccgatatagtcAGATCGAGACCCGACGC chr1:155962356-Reference-T;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Reference T atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag AATACGAACACG CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAaatacgaacacgAGATCGAGACCCGACGC chr1:155962356-Reference-T;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Reference T atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GGCCGTACTAGA CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAggccgtactagaAGATCGAGACCCGACGC chr1:155962356-Reference-T;Patient-94 chr1:155962356-TC DeNovo Patient-94 intergenic 0.000128 0.00102 NA NA NA RXFP4 50875 Reference T atctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataag GAGTGCTAAGCG CGACGCGGTCTCTCTCTatctgcccgccttggcctcccaaagtgctgggattacaggcgtgagccacTgcgctgggcctgtttttgtttttaaaggggaggaggaaacagaaataagAGAGGGAGACGGACGTCTCAATAAgagtgctaagcgAGATCGAGACCCGACGC chr1:155962356-Reference-T;Patient-94 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Reference G tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacagg AGACCGATGTGG CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAagaccgatgtggAGATCGAGACCCGACGC chr1:156933148-Reference-G;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Reference G tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GATACGCGAGCA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgatacgcgagcaAGATCGAGACCCGACGC chr1:156933148-Reference-G;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Variant A tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacagg CGCGAAGTACAC CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAcgcgaagtacacAGATCGAGACCCGACGC chr1:156933148-Variant-A;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Variant A tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacagg CGCGAATGCGAT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAcgcgaatgcgatAGATCGAGACCCGACGC chr1:156933148-Variant-A;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative T tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GACGAATTGACA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgacgaattgacaAGATCGAGACCCGACGC chr1:156933148-Alternative-T;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative C tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ACGTGTACGTAA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAacgtgtacgtaaAGATCGAGACCCGACGC chr1:156933148-Alternative-C;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative T tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ACCATGCTTCAT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAaccatgcttcatAGATCGAGACCCGACGC chr1:156933148-Alternative-T;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative T tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacagg CGACGGTTCACA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAcgacggttcacaAGATCGAGACCCGACGC chr1:156933148-Alternative-T;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Variant A tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ATTCACCGGCCA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAattcaccggccaAGATCGAGACCCGACGC chr1:156933148-Variant-A;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Variant A tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GATGGCGACAGT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgatggcgacagtAGATCGAGACCCGACGC chr1:156933148-Variant-A;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative T tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GTTCAATGTGGT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgttcaatgtggtAGATCGAGACCCGACGC chr1:156933148-Alternative-T;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Variant A tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacagg CATGCGTCGAAG CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcAggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAcatgcgtcgaagAGATCGAGACCCGACGC chr1:156933148-Variant-A;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative C tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ACGCTAAGGACG CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAacgctaaggacgAGATCGAGACCCGACGC chr1:156933148-Alternative-C;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative C tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacagg CATAGCGTAGCG CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAcatagcgtagcgAGATCGAGACCCGACGC chr1:156933148-Alternative-C;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative T tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ACCGGCTAACGA CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcTggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAaccggctaacgaAGATCGAGACCCGACGC chr1:156933148-Alternative-T;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative C tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacagg AGTGTCGACGAG CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAagtgtcgacgagAGATCGAGACCCGACGC chr1:156933148-Alternative-C;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Alternative C tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ATCGAACGAACT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcCggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAatcgaacgaactAGATCGAGACCCGACGC chr1:156933148-Alternative-C;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Reference G tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacagg ATATGGTCGACT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAatatggtcgactAGATCGAGACCCGACGC chr1:156933148-Reference-G;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Reference G tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GATAGCAACGGC CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgatagcaacggcAGATCGAGACCCGACGC chr1:156933148-Reference-G;Patient-98 chr1:156933148-GA DeNovo Patient-98 intronic ARHGEF11 3e-05 0.000148 -0.09 1.49 0.69 ARHGEF11 82013 Reference G tggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacagg GATCAAGACAGT CGACGCGGTCTCTCTCTtggaaggcagaaggatgagcatggtgggaagccgggcacagcagcacagcGggttccagcttagctcccatgtgattccccgtcctgggttcataacaggAGAGGGAGACGGACGTCTCAATAAgatcaagacagtAGATCGAGACCCGACGC chr1:156933148-Reference-G;Patient-98 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Variant G gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GACTAGGTACTT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAgactaggtacttAGATCGAGACCCGACGC chr1:156958635-Variant-G;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative T gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CGTTACCGCTGT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcgttaccgctgtAGATCGAGACCCGACGC chr1:156958635-Alternative-T;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative T gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata ATCTGCCGGTGT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAatctgccggtgtAGATCGAGACCCGACGC chr1:156958635-Alternative-T;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative T gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GCGGTAATTAAG CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAgcggtaattaagAGATCGAGACCCGACGC chr1:156958635-Alternative-T;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative C gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CGCGCTATTCCT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcgcgctattcctAGATCGAGACCCGACGC chr1:156958635-Alternative-C;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Variant G gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CAACTAAGCACG CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcaactaagcacgAGATCGAGACCCGACGC chr1:156958635-Variant-G;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Variant G gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CTAACTACGTGT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAActaactacgtgtAGATCGAGACCCGACGC chr1:156958635-Variant-G;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Variant G gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata ACTCGTATGAAC CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAactcgtatgaacAGATCGAGACCCGACGC chr1:156958635-Variant-G;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative T gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CAATGGACGGCA CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcaatggacggcaAGATCGAGACCCGACGC chr1:156958635-Alternative-T;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Reference A gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GACGAGGTGTAC CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAgacgaggtgtacAGATCGAGACCCGACGC chr1:156958635-Reference-A;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Reference A gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GGCGAGTTACGA CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAggcgagttacgaAGATCGAGACCCGACGC chr1:156958635-Reference-A;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Variant G gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata AGCGGCGAAGTT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccGttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAagcggcgaagttAGATCGAGACCCGACGC chr1:156958635-Variant-G;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Reference A gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GGATGCTACGCT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAggatgctacgctAGATCGAGACCCGACGC chr1:156958635-Reference-A;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative C gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CGGCTCACGATA CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcggctcacgataAGATCGAGACCCGACGC chr1:156958635-Alternative-C;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Reference A gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CAGGCGATACGA CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcaggcgatacgaAGATCGAGACCCGACGC chr1:156958635-Reference-A;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative T gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata ACTCCGAATTCT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccTttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAactccgaattctAGATCGAGACCCGACGC chr1:156958635-Alternative-T;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative C gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GAGTATACTGAC CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAgagtatactgacAGATCGAGACCCGACGC chr1:156958635-Alternative-C;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Reference A gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata CGAACACATTCT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccAttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAcgaacacattctAGATCGAGACCCGACGC chr1:156958635-Reference-A;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative C gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata AATGCGATAGTC CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAaatgcgatagtcAGATCGAGACCCGACGC chr1:156958635-Alternative-C;Patient-77 chr1:156958635-AG DeNovo Patient-77 intronic ARHGEF11 NA 4.95e-05 NA NA NA ARHGEF11 56526 Alternative C gatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggata GTGCGAACGGAT CGACGCGGTCTCTCTCTgatgcaaaaaaaatttttttttctgagagcttaaaggagagaaaactaccCttgaactgaaggaggaagaaatgcctatggaaggcaggcctggtggataAGAGGGAGACGGACGTCTCAATAAgtgcgaacggatAGATCGAGACCCGACGC chr1:156958635-Alternative-C;Patient-77 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative G caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtggg ACTCACGGAATC CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAactcacggaatcAGATCGAGACCCGACGC chr1:157176069-Alternative-G;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative G caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtggg AGTAGTCGGACG CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAagtagtcggacgAGATCGAGACCCGACGC chr1:157176069-Alternative-G;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative G caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtggg GGCGGATAGCTA CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAggcggatagctaAGATCGAGACCCGACGC chr1:157176069-Alternative-G;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative G caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtggg GTTGGATTGTGT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAgttggattgtgtAGATCGAGACCCGACGC chr1:157176069-Alternative-G;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative T caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtggg ACTCTAGCTGTT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAactctagctgttAGATCGAGACCCGACGC chr1:157176069-Alternative-T;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative G caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtggg AGCCGTATTCGC CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacGtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAagccgtattcgcAGATCGAGACCCGACGC chr1:157176069-Alternative-G;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Reference A caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtggg AATGTTGTCCGA CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAaatgttgtccgaAGATCGAGACCCGACGC chr1:157176069-Reference-A;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative T caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtggg AACGTAGTCTGT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAaacgtagtctgtAGATCGAGACCCGACGC chr1:157176069-Alternative-T;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative T caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtggg CGCGAGTCACTT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAcgcgagtcacttAGATCGAGACCCGACGC chr1:157176069-Alternative-T;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative T caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtggg GTGTACGTAGAA CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAgtgtacgtagaaAGATCGAGACCCGACGC chr1:157176069-Alternative-T;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Alternative T caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtggg GTCGAACTTCGG CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacTtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAgtcgaacttcggAGATCGAGACCCGACGC chr1:157176069-Alternative-T;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Variant C caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtggg CTGTTCACTTCT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAActgttcacttctAGATCGAGACCCGACGC chr1:157176069-Variant-C;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Reference A caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtggg CTCGGAGAATCG CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAActcggagaatcgAGATCGAGACCCGACGC chr1:157176069-Reference-A;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Reference A caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtggg CGCGAACATCAG CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAcgcgaacatcagAGATCGAGACCCGACGC chr1:157176069-Reference-A;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Reference A caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtggg GTACGAACTTGT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAgtacgaacttgtAGATCGAGACCCGACGC chr1:157176069-Reference-A;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Variant C caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtggg CAATACGCTCTT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAcaatacgctcttAGATCGAGACCCGACGC chr1:157176069-Variant-C;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Variant C caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtggg CACATTGTTCCA CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAcacattgttccaAGATCGAGACCCGACGC chr1:157176069-Variant-C;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Variant C caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtggg CAACGCTTGCGT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAcaacgcttgcgtAGATCGAGACCCGACGC chr1:157176069-Variant-C;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Variant C caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtggg AGATGCAACGAT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacCtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAagatgcaacgatAGATCGAGACCCGACGC chr1:157176069-Variant-C;Patient-105 chr1:157176069-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.65 0.03 -1 ETV3 67685 Reference A caaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtggg GGTAGGTTCCGT CGACGCGGTCTCTCTCTcaaacaccgcatgttctcactcataggtgggaattgaacaatgagaacacAtggacacaggaaggggaacataacacattggggactgttgtggggtgggAGAGGGAGACGGACGTCTCAATAAggtaggttccgtAGATCGAGACCCGACGC chr1:157176069-Reference-A;Patient-105 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative G tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg ATTGGCCGAGCT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAattggccgagctAGATCGAGACCCGACGC chr1:157492685-Alternative-G;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative G tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GTACAGTGTAAG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgtacagtgtaagAGATCGAGACCCGACGC chr1:157492685-Alternative-G;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Variant T tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg ATCTCGATTACG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAatctcgattacgAGATCGAGACCCGACGC chr1:157492685-Variant-T;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative G tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CTAAGTCGTCGG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAActaagtcgtcggAGATCGAGACCCGACGC chr1:157492685-Alternative-G;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Variant T tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GACGCTGTTGCA CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgacgctgttgcaAGATCGAGACCCGACGC chr1:157492685-Variant-T;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Reference C tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CATCAAGGCCGA CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAcatcaaggccgaAGATCGAGACCCGACGC chr1:157492685-Reference-C;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative G tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CTAACCGACACG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAActaaccgacacgAGATCGAGACCCGACGC chr1:157492685-Alternative-G;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative A tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg ACAGGTCATAAC CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAacaggtcataacAGATCGAGACCCGACGC chr1:157492685-Alternative-A;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Reference C tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CGTCACAGAACG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAcgtcacagaacgAGATCGAGACCCGACGC chr1:157492685-Reference-C;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Variant T tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg AATCGGAGCGAG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAaatcggagcgagAGATCGAGACCCGACGC chr1:157492685-Variant-T;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative A tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CAGCTTAGGCGT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAcagcttaggcgtAGATCGAGACCCGACGC chr1:157492685-Alternative-A;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Variant T tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg ATCGTCATTAGG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAatcgtcattaggAGATCGAGACCCGACGC chr1:157492685-Variant-T;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Reference C tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GACGCTTCTCGT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgacgcttctcgtAGATCGAGACCCGACGC chr1:157492685-Reference-C;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Variant T tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg CGAGAGTATTCT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcTgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAcgagagtattctAGATCGAGACCCGACGC chr1:157492685-Variant-T;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative A tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GAGCATATGCTT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgagcatatgcttAGATCGAGACCCGACGC chr1:157492685-Alternative-A;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative A tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg ACGTTCGGCGAT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAacgttcggcgatAGATCGAGACCCGACGC chr1:157492685-Alternative-A;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Reference C tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg AACGGTAGGTCG CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAaacggtaggtcgAGATCGAGACCCGACGC chr1:157492685-Reference-C;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative A tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg AGTGCGGCGATA CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcAgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAagtgcggcgataAGATCGAGACCCGACGC chr1:157492685-Alternative-A;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Reference C tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GCATCGTCGCTT CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcCgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgcatcgtcgcttAGATCGAGACCCGACGC chr1:157492685-Reference-C;Patient-84 chr1:157492685-CT Inherited Patient-84 intronic FCRL5 3.2e-05 4.95e-05 -0.59 0.05 -4.05 FCRL5 29624 Alternative G tgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtg GAGTCCACTATA CGACGCGGTCTCTCTCTtgatgtgttggcttgctgtattgtgaggaaagatggagcagccctcggtcGgtggtacatgcctgtgtgctggctctaagggataggtgtgtaaactgtgAGAGGGAGACGGACGTCTCAATAAgagtccactataAGATCGAGACCCGACGC chr1:157492685-Alternative-G;Patient-84 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative C gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc CGGATCCAGGAT CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAcggatccaggatAGATCGAGACCCGACGC chr1:159834891-Alternative-C;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Variant A gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc ATCTGTGCGTCG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAatctgtgcgtcgAGATCGAGACCCGACGC chr1:159834891-Variant-A;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative C gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc CTAGCCTTGTCG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAActagccttgtcgAGATCGAGACCCGACGC chr1:159834891-Alternative-C;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative C gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc ATCCGGTTGATA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAatccggttgataAGATCGAGACCCGACGC chr1:159834891-Alternative-C;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative C gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AGAATGCGGCAG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAagaatgcggcagAGATCGAGACCCGACGC chr1:159834891-Alternative-C;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative C gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AACAAGCCACTA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttCgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAaacaagccactaAGATCGAGACCCGACGC chr1:159834891-Alternative-C;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Variant A gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc GCACCAACACCT CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAgcaccaacacctAGATCGAGACCCGACGC chr1:159834891-Variant-A;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Variant A gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AACGAACCGTAA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAaacgaaccgtaaAGATCGAGACCCGACGC chr1:159834891-Variant-A;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Reference G gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc GAGATGTGGTCG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAgagatgtggtcgAGATCGAGACCCGACGC chr1:159834891-Reference-G;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Reference G gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc ACAATTGCTCGA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAacaattgctcgaAGATCGAGACCCGACGC chr1:159834891-Reference-G;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative T gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc ATCTGACGATAC CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAatctgacgatacAGATCGAGACCCGACGC chr1:159834891-Alternative-T;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative T gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc GACTAGACGTTC CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAgactagacgttcAGATCGAGACCCGACGC chr1:159834891-Alternative-T;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Variant A gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AGGTTATGCCAA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAaggttatgccaaAGATCGAGACCCGACGC chr1:159834891-Variant-A;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Reference G gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc GTTCGCAGGATA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAgttcgcaggataAGATCGAGACCCGACGC chr1:159834891-Reference-G;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Variant A gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc CAACGATGACGG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttAgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAcaacgatgacggAGATCGAGACCCGACGC chr1:159834891-Variant-A;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative T gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc GACGGACATTCA CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAgacggacattcaAGATCGAGACCCGACGC chr1:159834891-Alternative-T;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Reference G gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc ATCCGTGTGCTT CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAatccgtgtgcttAGATCGAGACCCGACGC chr1:159834891-Reference-G;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative T gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AGTAGCGAACGC CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAagtagcgaacgcAGATCGAGACCCGACGC chr1:159834891-Alternative-T;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Alternative T gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc CGGAATATAGTC CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttTgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAcggaatatagtcAGATCGAGACCCGACGC chr1:159834891-Alternative-T;Patient-22 chr1:159834891-GA Inherited Patient-22 intergenic 0.00067 0.00154 -0.02 2.27 1.42 DUSP23 84131 Reference G gtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctcc AAGATCGTCGCG CGACGCGGTCTCTCTCTgtccatcagagggagtcttactgagtggggaggaggggtggtctggatttGgagtccttaggagatgggagttgggagaaactgagggcctacatgctccAGAGGGAGACGGACGTCTCAATAAaagatcgtcgcgAGATCGAGACCCGACGC chr1:159834891-Reference-G;Patient-22 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative T tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctga GCATGACGATAA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAgcatgacgataaAGATCGAGACCCGACGC chr1:160037011-Alternative-T;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative T tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctga CTCATGCGGAGA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAActcatgcggagaAGATCGAGACCCGACGC chr1:160037011-Alternative-T;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative T tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctga CGTTGGTCGAAC CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcgttggtcgaacAGATCGAGACCCGACGC chr1:160037011-Alternative-T;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Variant A tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctga AGCGCACTATAT CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAagcgcactatatAGATCGAGACCCGACGC chr1:160037011-Variant-A;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Variant A tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctga AGGACGTAGTCG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAaggacgtagtcgAGATCGAGACCCGACGC chr1:160037011-Variant-A;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Variant A tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctga GTCGTCGAAGCT CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAgtcgtcgaagctAGATCGAGACCCGACGC chr1:160037011-Variant-A;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative C tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctga AGAGTCCTTACA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAagagtccttacaAGATCGAGACCCGACGC chr1:160037011-Alternative-C;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative C tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctga ACCAAGAGTAAC CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAaccaagagtaacAGATCGAGACCCGACGC chr1:160037011-Alternative-C;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Variant A tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctga CGAACTTACGAT CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcgaacttacgatAGATCGAGACCCGACGC chr1:160037011-Variant-A;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Variant A tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctga AGTGCGGATGCT CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacAggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAagtgcggatgctAGATCGAGACCCGACGC chr1:160037011-Variant-A;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Reference G tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctga CGAGTACTGACT CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcgagtactgactAGATCGAGACCCGACGC chr1:160037011-Reference-G;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative T tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctga AACGGTGTCGAG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAaacggtgtcgagAGATCGAGACCCGACGC chr1:160037011-Alternative-T;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Reference G tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctga ACAGCGAGCACA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAacagcgagcacaAGATCGAGACCCGACGC chr1:160037011-Reference-G;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative T tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctga GTGATAGCTACA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacTggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAgtgatagctacaAGATCGAGACCCGACGC chr1:160037011-Alternative-T;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative C tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctga CGAAGGAGATAA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcgaaggagataaAGATCGAGACCCGACGC chr1:160037011-Alternative-C;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Reference G tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctga AGCCGGTTATCG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAagccggttatcgAGATCGAGACCCGACGC chr1:160037011-Reference-G;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative C tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctga ATTCCGTACACG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAattccgtacacgAGATCGAGACCCGACGC chr1:160037011-Alternative-C;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Alternative C tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctga CACGACTGATGG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacCggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcacgactgatggAGATCGAGACCCGACGC chr1:160037011-Alternative-C;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Reference G tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctga GGTACGCGTTCA CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAggtacgcgttcaAGATCGAGACCCGACGC chr1:160037011-Reference-G;Patient-66 chr1:160037011-GA DeNovo Patient-66 intronic KCNJ10 NA 0.00016 1.53 15.92 -2.17 KCNJ10 3039 Reference G tcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctga CAATGTATTCGG CGACGCGGTCTCTCTCTtcccttcccccaccacctcaaatccaggctccaagctggcaaacacccacGggagggcatttcccacaatccctttctctttgccctttcaaggttctgaAGAGGGAGACGGACGTCTCAATAAcaatgtattcggAGATCGAGACCCGACGC chr1:160037011-Reference-G;Patient-66 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative C cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CGATTAGCAGAA CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcgattagcagaaAGATCGAGACCCGACGC chr1:160242276-Alternative-C;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative C cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CGTCGAGATCGT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcgtcgagatcgtAGATCGAGACCCGACGC chr1:160242276-Alternative-C;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Variant T cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CTAGTGAACAAC CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAActagtgaacaacAGATCGAGACCCGACGC chr1:160242276-Variant-T;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative C cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc AGCCACCGTCAA CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAagccaccgtcaaAGATCGAGACCCGACGC chr1:160242276-Alternative-C;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Reference A cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc ATAATCTGCGGT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAataatctgcggtAGATCGAGACCCGACGC chr1:160242276-Reference-A;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative G cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GTAACCGTTAGT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAgtaaccgttagtAGATCGAGACCCGACGC chr1:160242276-Alternative-G;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Reference A cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc AGTCTATCTCGT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAagtctatctcgtAGATCGAGACCCGACGC chr1:160242276-Reference-A;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Variant T cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GTAGAGTCACAG CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAgtagagtcacagAGATCGAGACCCGACGC chr1:160242276-Variant-T;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative G cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc AACGTGAACGAT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAaacgtgaacgatAGATCGAGACCCGACGC chr1:160242276-Alternative-G;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Reference A cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CGGAAGCTCGAT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcggaagctcgatAGATCGAGACCCGACGC chr1:160242276-Reference-A;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Reference A cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CACGCTGAGGTT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcacgctgaggttAGATCGAGACCCGACGC chr1:160242276-Reference-A;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Variant T cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GGACGAGTTGAC CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAggacgagttgacAGATCGAGACCCGACGC chr1:160242276-Variant-T;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative G cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CGTACTATGGCG CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcgtactatggcgAGATCGAGACCCGACGC chr1:160242276-Alternative-G;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Variant T cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GCGAAGGTCGTT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAgcgaaggtcgttAGATCGAGACCCGACGC chr1:160242276-Variant-T;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Reference A cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GGCTAGCGATCA CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaAaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAggctagcgatcaAGATCGAGACCCGACGC chr1:160242276-Reference-A;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative G cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc CGCATCTAACCG CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAcgcatctaaccgAGATCGAGACCCGACGC chr1:160242276-Alternative-G;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Variant T cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc GATACGTCAACT CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaTaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAgatacgtcaactAGATCGAGACCCGACGC chr1:160242276-Variant-T;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative G cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc ATCCGTCTTCTA CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaGaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAatccgtcttctaAGATCGAGACCCGACGC chr1:160242276-Alternative-G;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative C cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc ACTGCTACGTTA CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAactgctacgttaAGATCGAGACCCGACGC chr1:160242276-Alternative-C;Patient-101 chr1:160242276-AT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.07 1.71 0.12 PEX19 12664 Alternative C cattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgc ATCCGATCGTCG CGACGCGGTCTCTCTCTcattgcactccagcctgggtgacaggagcgagactgtctcaaaaaaaaaaCaaaaaaatcatcctgtccatctggttacttagtcctttgctggcaatgcAGAGGGAGACGGACGTCTCAATAAatccgatcgtcgAGATCGAGACCCGACGC chr1:160242276-Alternative-C;Patient-101 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Reference C atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GCGTGTTATCAA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAgcgtgttatcaaAGATCGAGACCCGACGC chr1:160362505-Reference-C;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Reference C atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CATATTCGTGCT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAcatattcgtgctAGATCGAGACCCGACGC chr1:160362505-Reference-C;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Variant G atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt ATCGCACATGAA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAatcgcacatgaaAGATCGAGACCCGACGC chr1:160362505-Variant-G;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Variant G atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CTACCAATACGC CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAActaccaatacgcAGATCGAGACCCGACGC chr1:160362505-Variant-G;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative T atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GTTAGAATCGCA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAgttagaatcgcaAGATCGAGACCCGACGC chr1:160362505-Alternative-T;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative A atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CTTGCTCCGAAT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAActtgctccgaatAGATCGAGACCCGACGC chr1:160362505-Alternative-A;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Variant G atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CTTGATACCGTT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAActtgataccgttAGATCGAGACCCGACGC chr1:160362505-Variant-G;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Variant G atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt ATACGGAGTTCA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAatacggagttcaAGATCGAGACCCGACGC chr1:160362505-Variant-G;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative T atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CTAGTCACACGA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAActagtcacacgaAGATCGAGACCCGACGC chr1:160362505-Alternative-T;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative A atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt AGCGCCTGACAT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAagcgcctgacatAGATCGAGACCCGACGC chr1:160362505-Alternative-A;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Reference C atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GGTTGTTGCAAT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAggttgttgcaatAGATCGAGACCCGACGC chr1:160362505-Reference-C;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Reference C atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CGACACATCAAG CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAcgacacatcaagAGATCGAGACCCGACGC chr1:160362505-Reference-C;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative T atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GTCTAGTCGAAC CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAgtctagtcgaacAGATCGAGACCCGACGC chr1:160362505-Alternative-T;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative A atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt AGACGTTCATCG CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAagacgttcatcgAGATCGAGACCCGACGC chr1:160362505-Alternative-A;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative A atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt AGTTCGCTAACA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAagttcgctaacaAGATCGAGACCCGACGC chr1:160362505-Alternative-A;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative T atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GAAGTGTCGTTA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAgaagtgtcgttaAGATCGAGACCCGACGC chr1:160362505-Alternative-T;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative A atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt AGCGTACTCATA CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaAtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAagcgtactcataAGATCGAGACCCGACGC chr1:160362505-Alternative-A;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Alternative T atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt AGTGTTCATGGT CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaTtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAagtgttcatggtAGATCGAGACCCGACGC chr1:160362505-Alternative-T;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Variant G atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt CGCTGAACGTTC CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaGtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAcgctgaacgttcAGATCGAGACCCGACGC chr1:160362505-Variant-G;Patient-17 chr1:160362505-CG Inherited Patient-17 intergenic 3.2e-05 0.00103 -0.1 1.42 0.13 COPA 49150 Reference C atccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaatt GCGGATATCAGG CGACGCGGTCTCTCTCTatccacccaccttggcctcccaaaagtgctgagattataggtgtgagccaCtatgactagcccagctgtttttttgtttttttttgttttttttcaaattAGAGGGAGACGGACGTCTCAATAAgcggatatcaggAGATCGAGACCCGACGC chr1:160362505-Reference-C;Patient-17 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Variant G tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CTGGCCGTCTAT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAActggccgtctatAGATCGAGACCCGACGC chr1:160859740-Variant-G;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Reference T tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GTCGACGTGACT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgtcgacgtgactAGATCGAGACCCGACGC chr1:160859740-Reference-T;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Reference T tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GGCGAATAACAT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAggcgaataacatAGATCGAGACCCGACGC chr1:160859740-Reference-T;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative A tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GCGTATGGTAGG CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgcgtatggtaggAGATCGAGACCCGACGC chr1:160859740-Alternative-A;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Variant G tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CGGTATGCAACA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAcggtatgcaacaAGATCGAGACCCGACGC chr1:160859740-Variant-G;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative A tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CTCGGATAAGAA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAActcggataagaaAGATCGAGACCCGACGC chr1:160859740-Alternative-A;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Variant G tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GTGGCTTGCACA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgtggcttgcacaAGATCGAGACCCGACGC chr1:160859740-Variant-G;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Reference T tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AGCAAGCTCGAA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAagcaagctcgaaAGATCGAGACCCGACGC chr1:160859740-Reference-T;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative A tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AGTACTATGCGT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAagtactatgcgtAGATCGAGACCCGACGC chr1:160859740-Alternative-A;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Reference T tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AGACCTAGCAGT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAagacctagcagtAGATCGAGACCCGACGC chr1:160859740-Reference-T;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Reference T tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc ACTGGTGTGCGA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtTttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAactggtgtgcgaAGATCGAGACCCGACGC chr1:160859740-Reference-T;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Variant G tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CAACTCTACGAA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAcaactctacgaaAGATCGAGACCCGACGC chr1:160859740-Variant-G;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative C tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CGACTGACGAAG CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAcgactgacgaagAGATCGAGACCCGACGC chr1:160859740-Alternative-C;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative A tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AGACGATTGACT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAagacgattgactAGATCGAGACCCGACGC chr1:160859740-Alternative-A;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Variant G tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GAGGTTCGGACA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtGttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgaggttcggacaAGATCGAGACCCGACGC chr1:160859740-Variant-G;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative C tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GAGGTTCATTCA CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgaggttcattcaAGATCGAGACCCGACGC chr1:160859740-Alternative-C;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative C tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AGTAGAGCGTAT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAagtagagcgtatAGATCGAGACCCGACGC chr1:160859740-Alternative-C;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative C tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc AACCGTTATGGT CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAaaccgttatggtAGATCGAGACCCGACGC chr1:160859740-Alternative-C;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative C tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc CGCATATAATCG CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtCttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAcgcatataatcgAGATCGAGACCCGACGC chr1:160859740-Alternative-C;Patient-66 chr1:160859740-TG DeNovo Patient-66 intergenic 3.2e-05 0.000512821 -0.36 0.25 -1.52 ITLN1 4779 Alternative A tactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtc GTCATTCTGCCG CGACGCGGTCTCTCTCTtactagacatgtgacattgggcaaaccacttcatccctctggacttcagtAttcatgcagtaaaatgtgaataacaaggccaggtgcggtggctcatgtcAGAGGGAGACGGACGTCTCAATAAgtcattctgccgAGATCGAGACCCGACGC chr1:160859740-Alternative-A;Patient-66 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Variant T gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc AAGATAGTGCAC CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAaagatagtgcacAGATCGAGACCCGACGC chr1:161102741-Variant-T;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative G gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CTATGATCAGGT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAActatgatcaggtAGATCGAGACCCGACGC chr1:161102741-Alternative-G;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Variant T gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CTCTGGTTGTCG CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAActctggttgtcgAGATCGAGACCCGACGC chr1:161102741-Variant-T;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Reference A gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc ATTATCCTGACC CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAattatcctgaccAGATCGAGACCCGACGC chr1:161102741-Reference-A;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Variant T gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GTCGGCATTGAT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgtcggcattgatAGATCGAGACCCGACGC chr1:161102741-Variant-T;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Reference A gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CAGGTCAACTAT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAcaggtcaactatAGATCGAGACCCGACGC chr1:161102741-Reference-A;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative C gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GATTACGGAGGT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgattacggaggtAGATCGAGACCCGACGC chr1:161102741-Alternative-C;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Reference A gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GATACGAGTCAA CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgatacgagtcaaAGATCGAGACCCGACGC chr1:161102741-Reference-A;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Variant T gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc ATAGAGCAGCAT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAatagagcagcatAGATCGAGACCCGACGC chr1:161102741-Variant-T;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Reference A gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CGCGGACATTGT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAcgcggacattgtAGATCGAGACCCGACGC chr1:161102741-Reference-A;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative G gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CAGCGTATTAGT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAcagcgtattagtAGATCGAGACCCGACGC chr1:161102741-Alternative-G;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Variant T gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc ACCATGTCGAAT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaTtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAaccatgtcgaatAGATCGAGACCCGACGC chr1:161102741-Variant-T;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative G gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc AGGCACCGTAAC CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAaggcaccgtaacAGATCGAGACCCGACGC chr1:161102741-Alternative-G;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Reference A gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc CAGTTACGTGCA CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaAtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAcagttacgtgcaAGATCGAGACCCGACGC chr1:161102741-Reference-A;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative G gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc AAGGAACGTTCA CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAaaggaacgttcaAGATCGAGACCCGACGC chr1:161102741-Alternative-G;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative C gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GATACTTCTAGG CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgatacttctaggAGATCGAGACCCGACGC chr1:161102741-Alternative-C;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative C gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GGTACGGCGATA CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAggtacggcgataAGATCGAGACCCGACGC chr1:161102741-Alternative-C;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative C gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GCGCATTCATGG CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgcgcattcatggAGATCGAGACCCGACGC chr1:161102741-Alternative-C;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative C gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GATAGAACGACG CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaCtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAgatagaacgacgAGATCGAGACCCGACGC chr1:161102741-Alternative-C;Patient-24 chr1:161102741-AT DeNovo Patient-24 intergenic NA 0.000513 0.56 9.96 -1.97 NDUFS2 66363 Alternative G gacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagaccc GGTATGGTTGGT CGACGCGGTCTCTCTCTgacggctgcttagggcggtaataagggatcgaagaggatagcattcttgaGtgggaaacattggtggcgccacagctggctggtggcgacttcaagacccAGAGGGAGACGGACGTCTCAATAAggtatggttggtAGATCGAGACCCGACGC chr1:161102741-Alternative-G;Patient-24 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative C ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GAGACTCGTATC CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgagactcgtatcAGATCGAGACCCGACGC chr1:161215286-Alternative-C;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Variant G ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc AACTCAAGTTCG CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAaactcaagttcgAGATCGAGACCCGACGC chr1:161215286-Variant-G;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative C ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GATTCTCGTAGA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgattctcgtagaAGATCGAGACCCGACGC chr1:161215286-Alternative-C;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Variant G ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc ACTACGCCGCTT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAactacgccgcttAGATCGAGACCCGACGC chr1:161215286-Variant-G;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative C ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CTTGGAACACGT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAActtggaacacgtAGATCGAGACCCGACGC chr1:161215286-Alternative-C;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Reference T ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CGTTCCGGATGT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcgttccggatgtAGATCGAGACCCGACGC chr1:161215286-Reference-T;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Variant G ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CGTGCGTATCCA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcgtgcgtatccaAGATCGAGACCCGACGC chr1:161215286-Variant-G;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative C ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GTTAGGAGCTAA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgttaggagctaaAGATCGAGACCCGACGC chr1:161215286-Alternative-C;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative A ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CTGTTCGGACCT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAActgttcggacctAGATCGAGACCCGACGC chr1:161215286-Alternative-A;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative C ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc AGCTTACCGTGG CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttCgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAagcttaccgtggAGATCGAGACCCGACGC chr1:161215286-Alternative-C;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Reference T ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GACCGCATCTTA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgaccgcatcttaAGATCGAGACCCGACGC chr1:161215286-Reference-T;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Reference T ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GCGCTATCGAAG CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgcgctatcgaagAGATCGAGACCCGACGC chr1:161215286-Reference-T;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative A ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CGGATCATGTGG CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcggatcatgtggAGATCGAGACCCGACGC chr1:161215286-Alternative-A;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Variant G ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GGAGGTAACAGG CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAggaggtaacaggAGATCGAGACCCGACGC chr1:161215286-Variant-G;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Variant G ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CTCACAAGACGT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttGgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAActcacaagacgtAGATCGAGACCCGACGC chr1:161215286-Variant-G;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Reference T ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CGTCAATGGTTA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcgtcaatggttaAGATCGAGACCCGACGC chr1:161215286-Reference-T;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative A ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc ATCGTTGAACGT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAatcgttgaacgtAGATCGAGACCCGACGC chr1:161215286-Alternative-A;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative A ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CGCGATACAACT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcgcgatacaactAGATCGAGACCCGACGC chr1:161215286-Alternative-A;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Alternative A ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc GTGACGTGACGA CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttAgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAgtgacgtgacgaAGATCGAGACCCGACGC chr1:161215286-Alternative-A;Patient-61 chr1:161215286-TG Inherited Patient-61 intergenic 3.3e-05 0.000513 0.07 3.77 1.05 SDHC 68879 Reference T ttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtc CAACGCTCCGAT CGACGCGGTCTCTCTCTttttctaggcccatgggttaggaaaaactatggaaactatgggtttttttTgttcccaaatgctcttttttttttttcttttcttctttgagatagagtcAGAGGGAGACGGACGTCTCAATAAcaacgctccgatAGATCGAGACCCGACGC chr1:161215286-Reference-T;Patient-61 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Reference A cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt ACGTAGGCGTCA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAacgtaggcgtcaAGATCGAGACCCGACGC chr1:161225387-Reference-A;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative T cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GCGGCAATCAAG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAgcggcaatcaagAGATCGAGACCCGACGC chr1:161225387-Alternative-T;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Reference A cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GTCGAGCGATGA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAgtcgagcgatgaAGATCGAGACCCGACGC chr1:161225387-Reference-A;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Reference A cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt CGCTGGACAACA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAcgctggacaacaAGATCGAGACCCGACGC chr1:161225387-Reference-A;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Reference A cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GGCAAGAATGGT CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAggcaagaatggtAGATCGAGACCCGACGC chr1:161225387-Reference-A;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative T cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt ACCTATATTGCG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAacctatattgcgAGATCGAGACCCGACGC chr1:161225387-Alternative-T;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Reference A cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt AACGCGACCGAT CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaAgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAaacgcgaccgatAGATCGAGACCCGACGC chr1:161225387-Reference-A;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative T cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt CATAGGTCGAAG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAcataggtcgaagAGATCGAGACCCGACGC chr1:161225387-Alternative-T;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative T cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt AGCGGCGTTACA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAagcggcgttacaAGATCGAGACCCGACGC chr1:161225387-Alternative-T;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Variant C cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GTGTTCCTAGCG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAgtgttcctagcgAGATCGAGACCCGACGC chr1:161225387-Variant-C;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Variant C cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt ACTGAATCCGCA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAactgaatccgcaAGATCGAGACCCGACGC chr1:161225387-Variant-C;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative G cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt AACGGCGTACGA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAaacggcgtacgaAGATCGAGACCCGACGC chr1:161225387-Alternative-G;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Variant C cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GATGTTCATCCT CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAgatgttcatcctAGATCGAGACCCGACGC chr1:161225387-Variant-C;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Variant C cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt GTAGGATTATGG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAgtaggattatggAGATCGAGACCCGACGC chr1:161225387-Variant-C;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Variant C cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt ACTTATGCGAAG CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaCgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAacttatgcgaagAGATCGAGACCCGACGC chr1:161225387-Variant-C;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative T cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt ACTGAGTTCGAT CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaTgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAactgagttcgatAGATCGAGACCCGACGC chr1:161225387-Alternative-T;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative G cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt AGATGCGGAGCA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAagatgcggagcaAGATCGAGACCCGACGC chr1:161225387-Alternative-G;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative G cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt CGGTGAGTAGTC CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAcggtgagtagtcAGATCGAGACCCGACGC chr1:161225387-Alternative-G;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative G cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt CGTGCTCGATTA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAcgtgctcgattaAGATCGAGACCCGACGC chr1:161225387-Alternative-G;Patient-65 chr1:161225387-AC DeNovo Patient-65 intergenic NA 0.000513 0.15 5.06 0 APOA2 31968 Alternative G cgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaatt AGGTGGCGGTTA CGACGCGGTCTCTCTCTcgcccagttagcagaactagtggcactaacctgagccttagaactgggaaGgggaaaaagaataaatgtgtatacagataccaagaatgcttatcgaattAGAGGGAGACGGACGTCTCAATAAaggtggcggttaAGATCGAGACCCGACGC chr1:161225387-Alternative-G;Patient-65 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative A ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CGGAACAGTTCG CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcggaacagttcgAGATCGAGACCCGACGC chr1:16343374-Alternative-A;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Reference G ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CGATGCAGATAA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcgatgcagataaAGATCGAGACCCGACGC chr1:16343374-Reference-G;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative T ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CGACTTCCTCGA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcgacttcctcgaAGATCGAGACCCGACGC chr1:16343374-Alternative-T;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Reference G ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac ATCCTCAGTTGT CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAatcctcagttgtAGATCGAGACCCGACGC chr1:16343374-Reference-G;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative T ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac AACCGTGATAAG CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAaaccgtgataagAGATCGAGACCCGACGC chr1:16343374-Alternative-T;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Reference G ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GGTGAACAACAT CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAggtgaacaacatAGATCGAGACCCGACGC chr1:16343374-Reference-G;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative T ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GAGCACGCGTAA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAgagcacgcgtaaAGATCGAGACCCGACGC chr1:16343374-Alternative-T;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Reference G ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GACGGAGCGTAA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAgacggagcgtaaAGATCGAGACCCGACGC chr1:16343374-Reference-G;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative T ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GCGCATAACAAT CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAgcgcataacaatAGATCGAGACCCGACGC chr1:16343374-Alternative-T;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative A ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GATGAGATGACC CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAgatgagatgaccAGATCGAGACCCGACGC chr1:16343374-Alternative-A;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Variant C ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CGTAGTAAGGCG CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcgtagtaaggcgAGATCGAGACCCGACGC chr1:16343374-Variant-C;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Variant C ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GCGGTTAATAGT CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAgcggttaatagtAGATCGAGACCCGACGC chr1:16343374-Variant-C;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative A ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CAATGCGGAATC CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcaatgcggaatcAGATCGAGACCCGACGC chr1:16343374-Alternative-A;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative A ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac ACGAACATGACA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAacgaacatgacaAGATCGAGACCCGACGC chr1:16343374-Alternative-A;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative T ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac ATCAACCTTCCA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcTgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAatcaaccttccaAGATCGAGACCCGACGC chr1:16343374-Alternative-T;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Reference G ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CAAGCGAACGTC CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcGgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcaagcgaacgtcAGATCGAGACCCGACGC chr1:16343374-Reference-G;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Variant C ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac ACATCGCTGTGG CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAacatcgctgtggAGATCGAGACCCGACGC chr1:16343374-Variant-C;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Alternative A ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac ATAGTCTGTTCG CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcAgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAatagtctgttcgAGATCGAGACCCGACGC chr1:16343374-Alternative-A;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Variant C ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac CGTGTCGAACAC CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAcgtgtcgaacacAGATCGAGACCCGACGC chr1:16343374-Variant-C;Patient-82 chr1:16343374-GC DeNovo Patient-82 intronic HSPB7 NA 9.9e-05 -0.22 0.64 -4.13 HSPB7 1910 Variant C ggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggac GGCGAACTTGCA CGACGCGGTCTCTCTCTggaggctccctcagctgctcaggccctggaagaaaggatctgggaacctcCgtgcaaagagaggcagtgagggggccccatggccatgggttgcagggacAGAGGGAGACGGACGTCTCAATAAggcgaacttgcaAGATCGAGACCCGACGC chr1:16343374-Variant-C;Patient-82 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Reference C gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg AGCAGTCGCAAT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAagcagtcgcaatAGATCGAGACCCGACGC chr1:16362120-Reference-C;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Reference C gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg AACTTACCGCCT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAaacttaccgcctAGATCGAGACCCGACGC chr1:16362120-Reference-C;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Reference C gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg GTTGATAAGCCA CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAgttgataagccaAGATCGAGACCCGACGC chr1:16362120-Reference-C;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Reference C gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg ACGCGCATAATA CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAacgcgcataataAGATCGAGACCCGACGC chr1:16362120-Reference-C;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Reference C gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg AGTACTTACGGT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtCccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAagtacttacggtAGATCGAGACCCGACGC chr1:16362120-Reference-C;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative A gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg GGCCATCATGCT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAggccatcatgctAGATCGAGACCCGACGC chr1:16362120-Alternative-A;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative A gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CTTAAGAATCGG CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAActtaagaatcggAGATCGAGACCCGACGC chr1:16362120-Alternative-A;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative A gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg GTACCACAACCT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAgtaccacaacctAGATCGAGACCCGACGC chr1:16362120-Alternative-A;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative A gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CGTTATAGGCCT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcgttataggcctAGATCGAGACCCGACGC chr1:16362120-Alternative-A;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative A gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CATTGACTCTGA CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtAccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcattgactctgaAGATCGAGACCCGACGC chr1:16362120-Alternative-A;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative T gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CGTTCGACGTGA CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcgttcgacgtgaAGATCGAGACCCGACGC chr1:16362120-Alternative-T;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative T gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CTGAGTTCGTGG CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAActgagttcgtggAGATCGAGACCCGACGC chr1:16362120-Alternative-T;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative T gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CGTTAGGCGAAC CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcgttaggcgaacAGATCGAGACCCGACGC chr1:16362120-Alternative-T;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative T gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg ATCCTCTCAACA CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAatcctctcaacaAGATCGAGACCCGACGC chr1:16362120-Alternative-T;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Alternative T gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg AACTCTTACCGT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtTccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAaactcttaccgtAGATCGAGACCCGACGC chr1:16362120-Alternative-T;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Variant G gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg GCCACGTCACTT CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAgccacgtcacttAGATCGAGACCCGACGC chr1:16362120-Variant-G;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Variant G gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg ACACCGCTGAAC CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAacaccgctgaacAGATCGAGACCCGACGC chr1:16362120-Variant-G;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Variant G gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CGTGCGACTATC CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcgtgcgactatcAGATCGAGACCCGACGC chr1:16362120-Variant-G;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Variant G gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg AAGTCGTCGGAC CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAaagtcgtcggacAGATCGAGACCCGACGC chr1:16362120-Variant-G;Patient-30 chr1:16362120-CG Inherited Patient-30 intergenic NA 0.000480615 NA NA NA ZBTB17 59492 Variant G gtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttgg CGATTCTCGCAC CGACGCGGTCTCTCTCTgtgactgccgagccttgtgaccttggtcaagtcaccaaaactctctgagtGccaggttcctcctccaggcagtaaacggaggagttaagagtgggcttggAGAGGGAGACGGACGTCTCAATAAcgattctcgcacAGATCGAGACCCGACGC chr1:16362120-Variant-G;Patient-30 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Variant G tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatg CTGCATCTTCTT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAActgcatcttcttAGATCGAGACCCGACGC chr1:164552913-Variant-G;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative T tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatg CACTGTACGCCA CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAcactgtacgccaAGATCGAGACCCGACGC chr1:164552913-Alternative-T;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative A tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatg GTTCTGCCATAT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgttctgccatatAGATCGAGACCCGACGC chr1:164552913-Alternative-A;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative T tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatg GATTGTGGACAC CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgattgtggacacAGATCGAGACCCGACGC chr1:164552913-Alternative-T;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative T tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatg GGTGAATAGTAC CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAggtgaatagtacAGATCGAGACCCGACGC chr1:164552913-Alternative-T;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative A tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatg ACTACGCCGCAA CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAactacgccgcaaAGATCGAGACCCGACGC chr1:164552913-Alternative-A;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative T tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatg GTGTCGGTTACG CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgtgtcggttacgAGATCGAGACCCGACGC chr1:164552913-Alternative-T;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative T tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatg CACGTGATGAAC CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcTagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAcacgtgatgaacAGATCGAGACCCGACGC chr1:164552913-Alternative-T;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Reference C tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatg ATTCGGTTAGCA CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAattcggttagcaAGATCGAGACCCGACGC chr1:164552913-Reference-C;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Variant G tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatg GATATCGTGGTT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgatatcgtggttAGATCGAGACCCGACGC chr1:164552913-Variant-G;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Variant G tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatg AGTCGGCACCAT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAagtcggcaccatAGATCGAGACCCGACGC chr1:164552913-Variant-G;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Variant G tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatg GTGACTAAGCGG CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgtgactaagcggAGATCGAGACCCGACGC chr1:164552913-Variant-G;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Reference C tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatg GCGAACATGTCG CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgcgaacatgtcgAGATCGAGACCCGACGC chr1:164552913-Reference-C;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Variant G tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatg GCAAGTACGACC CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcGagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAgcaagtacgaccAGATCGAGACCCGACGC chr1:164552913-Variant-G;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative A tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatg AATCGGAGCGCT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAaatcggagcgctAGATCGAGACCCGACGC chr1:164552913-Alternative-A;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative A tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatg CGTTGCCTAGCA CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAcgttgcctagcaAGATCGAGACCCGACGC chr1:164552913-Alternative-A;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Alternative A tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatg CGAGTGGTAGGT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcAagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAcgagtggtaggtAGATCGAGACCCGACGC chr1:164552913-Alternative-A;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Reference C tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatg GGATAGGCTCCT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAggataggctcctAGATCGAGACCCGACGC chr1:164552913-Reference-C;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Reference C tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatg CTATCGTAGAGT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAActatcgtagagtAGATCGAGACCCGACGC chr1:164552913-Reference-C;Patient-92 chr1:164552913-CG DeNovo Patient-92 intronic PBX1 NA 4.95e-05 0.05 3.51 1.66 PBX1 24315 Reference C tgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatg CGACAACACGCT CGACGCGGTCTCTCTCTtgtaaaatgaagagtataaaaagcaaataactaccacaactggttttatcCagggctgttaatttttagatactcattgctacacttattagaaataatgAGAGGGAGACGGACGTCTCAATAAcgacaacacgctAGATCGAGACCCGACGC chr1:164552913-Reference-C;Patient-92 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Reference C cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GTTAGCCGTCCT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAgttagccgtcctAGATCGAGACCCGACGC chr1:164592430-Reference-C;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Reference C cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag ATCGACTCCGTC CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAatcgactccgtcAGATCGAGACCCGACGC chr1:164592430-Reference-C;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Reference C cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GCAAGTGGCAGT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAgcaagtggcagtAGATCGAGACCCGACGC chr1:164592430-Reference-C;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative A cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CAGTATGACGAA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcagtatgacgaaAGATCGAGACCCGACGC chr1:164592430-Alternative-A;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Reference C cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CGTTGTGGTGGT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcgttgtggtggtAGATCGAGACCCGACGC chr1:164592430-Reference-C;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Reference C cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag AGTGCGACCAGA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccCgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAagtgcgaccagaAGATCGAGACCCGACGC chr1:164592430-Reference-C;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative A cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag ACTAATCGGACA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAactaatcggacaAGATCGAGACCCGACGC chr1:164592430-Alternative-A;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Variant T cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GTTCGATCATTC CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAgttcgatcattcAGATCGAGACCCGACGC chr1:164592430-Variant-T;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative G cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CACACGTACATA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcacacgtacataAGATCGAGACCCGACGC chr1:164592430-Alternative-G;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative G cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CATCATAGGCGC CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcatcataggcgcAGATCGAGACCCGACGC chr1:164592430-Alternative-G;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Variant T cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CATCAGTCGTAA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcatcagtcgtaaAGATCGAGACCCGACGC chr1:164592430-Variant-T;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Variant T cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GTGGCATACTTA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAgtggcatacttaAGATCGAGACCCGACGC chr1:164592430-Variant-T;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative A cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GATCGACCTCGA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAgatcgacctcgaAGATCGAGACCCGACGC chr1:164592430-Alternative-A;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative G cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag ACTCTCAATTCG CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAactctcaattcgAGATCGAGACCCGACGC chr1:164592430-Alternative-G;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Variant T cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CTCATGCGCAGT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAActcatgcgcagtAGATCGAGACCCGACGC chr1:164592430-Variant-T;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative G cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag ACGCTAACATCA CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAacgctaacatcaAGATCGAGACCCGACGC chr1:164592430-Alternative-G;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative A cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag CAGGACATAAGG CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAcaggacataaggAGATCGAGACCCGACGC chr1:164592430-Alternative-A;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative A cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag ATCTGGCCGTGT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccAgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAatctggccgtgtAGATCGAGACCCGACGC chr1:164592430-Alternative-A;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Alternative G cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag GGAACCTGACAG CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccGgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAggaacctgacagAGATCGAGACCCGACGC chr1:164592430-Alternative-G;Patient-87 chr1:164592430-CT Inherited Patient-87 intronic PBX1 0.000733 0.000198 0.17 5.33 1.52 PBX1 63832 Variant T cttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatag AACGCCAACCGT CGACGCGGTCTCTCTCTcttctctcttctctagatgtagcatgtctataatctctggaggtaagcccTgcctcgttacacacaagaggatcatgactaatgcggtgtatatagatagAGAGGGAGACGGACGTCTCAATAAaacgccaaccgtAGATCGAGACCCGACGC chr1:164592430-Variant-T;Patient-87 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative G catttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagct AAGTGTAGCGCG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAaagtgtagcgcgAGATCGAGACCCGACGC chr1:165400078-Alternative-G;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Variant T catttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTCGTGCTACCT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgtcgtgctacctAGATCGAGACCCGACGC chr1:165400078-Variant-T;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative G catttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagct ACGTGGAGACAT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAacgtggagacatAGATCGAGACCCGACGC chr1:165400078-Alternative-G;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Variant T catttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagct CAGCGAGAGTAC CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAcagcgagagtacAGATCGAGACCCGACGC chr1:165400078-Variant-T;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative G catttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagct GGTTCGAGATTA CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAggttcgagattaAGATCGAGACCCGACGC chr1:165400078-Alternative-G;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative G catttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagct ATCCGGTAGTTA CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAatccggtagttaAGATCGAGACCCGACGC chr1:165400078-Alternative-G;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Variant T catttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagct GACGAATCTCAT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgacgaatctcatAGATCGAGACCCGACGC chr1:165400078-Variant-T;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative A catttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagct AAGATCGCACTA CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAaagatcgcactaAGATCGAGACCCGACGC chr1:165400078-Alternative-A;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative A catttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTATCCTGTCGC CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgtatcctgtcgcAGATCGAGACCCGACGC chr1:165400078-Alternative-A;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Variant T catttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagct CAGACACACGCT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAcagacacacgctAGATCGAGACCCGACGC chr1:165400078-Variant-T;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative A catttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTAACTATGGAG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgtaactatggagAGATCGAGACCCGACGC chr1:165400078-Alternative-A;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Reference C catttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagct AGGAACCTGGTT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAaggaacctggttAGATCGAGACCCGACGC chr1:165400078-Reference-C;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Variant T catttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagct CTGGTCGTTGAG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataTcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAActggtcgttgagAGATCGAGACCCGACGC chr1:165400078-Variant-T;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative A catttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagct ATTACTGGCACG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAattactggcacgAGATCGAGACCCGACGC chr1:165400078-Alternative-A;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative G catttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTACACAGAGCG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataGcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgtacacagagcgAGATCGAGACCCGACGC chr1:165400078-Alternative-G;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Alternative A catttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTGTTACCGTGG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataAcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgtgttaccgtggAGATCGAGACCCGACGC chr1:165400078-Alternative-A;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Reference C catttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagct GCGATCTACAGG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgcgatctacaggAGATCGAGACCCGACGC chr1:165400078-Reference-C;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Reference C catttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagct CGATGCGATAGG CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAcgatgcgataggAGATCGAGACCCGACGC chr1:165400078-Reference-C;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Reference C catttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagct AGTTGGTTGACT CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAagttggttgactAGATCGAGACCCGACGC chr1:165400078-Reference-C;Patient-39 chr1:165400078-CT DeNovo Patient-39 intronic RXRG 3.2e-05 4.95e-05 0.1 4.25 1.82 RXRG 14513 Reference C catttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagct GTTCATTCTCGA CGACGCGGTCTCTCTCTcatttcagccttttgcagatgagaaaacttaggctccatctaaccccataCcatttccagttccaggatgacttacccctgcctccattgtctagaagctAGAGGGAGACGGACGTCTCAATAAgttcattctcgaAGATCGAGACCCGACGC chr1:165400078-Reference-C;Patient-39 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Reference G taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt ATACGCGTTCAA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAatacgcgttcaaAGATCGAGACCCGACGC chr1:165404319-Reference-G;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Variant A taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt CAAGCGTTAGGT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAcaagcgttaggtAGATCGAGACCCGACGC chr1:165404319-Variant-A;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative C taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GCCAGACTACGT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAgccagactacgtAGATCGAGACCCGACGC chr1:165404319-Alternative-C;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative T taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt AGGAGTTCGAAG CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAaggagttcgaagAGATCGAGACCCGACGC chr1:165404319-Alternative-T;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative T taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt CGCCTATAAGGT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAcgcctataaggtAGATCGAGACCCGACGC chr1:165404319-Alternative-T;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Reference G taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt AGCGTAGTAGCG CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAagcgtagtagcgAGATCGAGACCCGACGC chr1:165404319-Reference-G;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative T taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt CTAATAAGGTGG CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAActaataaggtggAGATCGAGACCCGACGC chr1:165404319-Alternative-T;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Reference G taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GGTATCTGACTA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAggtatctgactaAGATCGAGACCCGACGC chr1:165404319-Reference-G;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Reference G taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt ACGCAGTATCTA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAacgcagtatctaAGATCGAGACCCGACGC chr1:165404319-Reference-G;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative T taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt ACACGAATGCGC CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAacacgaatgcgcAGATCGAGACCCGACGC chr1:165404319-Alternative-T;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative C taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GCGCCAAGTACT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAgcgccaagtactAGATCGAGACCCGACGC chr1:165404319-Alternative-C;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative T taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GGTACATAAGGT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaTcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAggtacataaggtAGATCGAGACCCGACGC chr1:165404319-Alternative-T;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Reference G taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GTTCCATTAAGG CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaGcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAgttccattaaggAGATCGAGACCCGACGC chr1:165404319-Reference-G;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Variant A taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt AACAACGCATCA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAaacaacgcatcaAGATCGAGACCCGACGC chr1:165404319-Variant-A;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Variant A taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt ATCGTGTTCGTT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAatcgtgttcgttAGATCGAGACCCGACGC chr1:165404319-Variant-A;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Variant A taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GAGCTCGTCACT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAgagctcgtcactAGATCGAGACCCGACGC chr1:165404319-Variant-A;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Variant A taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt CAGTTACCGCAA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaAcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAcagttaccgcaaAGATCGAGACCCGACGC chr1:165404319-Variant-A;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative C taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt AAGGAGTACGAA CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAaaggagtacgaaAGATCGAGACCCGACGC chr1:165404319-Alternative-C;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative C taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt GTCAACGACCGT CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAgtcaacgaccgtAGATCGAGACCCGACGC chr1:165404319-Alternative-C;Patient-6 chr1:165404319-GA DeNovo Patient-6 intronic RXRG NA 4.95e-05 0.13 4.76 0.69 RXRG 10272 Alternative C taatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggatttt CGATTCGCTAAC CGACGCGGTCTCTCTCTtaatctagaaatcccaaatccaaaatgctccaaaatccaaaactttctgaCcactgacatgactctcaaaagaaatgttcattggagtatttgggattttAGAGGGAGACGGACGTCTCAATAAcgattcgctaacAGATCGAGACCCGACGC chr1:165404319-Alternative-C;Patient-6 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Variant A ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacag GTACAGAACGAT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAgtacagaacgatAGATCGAGACCCGACGC chr1:165429342-Variant-A;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Variant A ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacag ACGTTCAGGCAA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAacgttcaggcaaAGATCGAGACCCGACGC chr1:165429342-Variant-A;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative C ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacag ATCCTGGTATGA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAatcctggtatgaAGATCGAGACCCGACGC chr1:165429342-Alternative-C;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Reference T ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacag GTGTAGATCTGT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAgtgtagatctgtAGATCGAGACCCGACGC chr1:165429342-Reference-T;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Reference T ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacag CAACAAGACGAT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcaacaagacgatAGATCGAGACCCGACGC chr1:165429342-Reference-T;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative C ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacag AGGTAAGCAGCA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAaggtaagcagcaAGATCGAGACCCGACGC chr1:165429342-Alternative-C;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Reference T ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacag CATTGAAGCGGC CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcattgaagcggcAGATCGAGACCCGACGC chr1:165429342-Reference-T;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Variant A ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacag CGACGCGATACT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcgacgcgatactAGATCGAGACCCGACGC chr1:165429342-Variant-A;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Reference T ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacag GCAACCGATTCT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAgcaaccgattctAGATCGAGACCCGACGC chr1:165429342-Reference-T;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative G ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacag GATCGTTACCGG CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAgatcgttaccggAGATCGAGACCCGACGC chr1:165429342-Alternative-G;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative G ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacag GGATCGAGTACA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAggatcgagtacaAGATCGAGACCCGACGC chr1:165429342-Alternative-G;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Variant A ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacag CATTCATAGCGA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcattcatagcgaAGATCGAGACCCGACGC chr1:165429342-Variant-A;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Reference T ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacag GGTGGTCGATGA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaTttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAggtggtcgatgaAGATCGAGACCCGACGC chr1:165429342-Reference-T;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative C ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacag GATACTACCAGT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAgatactaccagtAGATCGAGACCCGACGC chr1:165429342-Alternative-C;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative C ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacag CGTGGACAATGT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcgtggacaatgtAGATCGAGACCCGACGC chr1:165429342-Alternative-C;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Variant A ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacag ACTACGGTCTAA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaAttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAactacggtctaaAGATCGAGACCCGACGC chr1:165429342-Variant-A;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative G ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacag CGTTGAGGCGAT CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcgttgaggcgatAGATCGAGACCCGACGC chr1:165429342-Alternative-G;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative C ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacag CACACAACAACC CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaCttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAcacacaacaaccAGATCGAGACCCGACGC chr1:165429342-Alternative-C;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative G ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacag AGACTGGCATAA CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAagactggcataaAGATCGAGACCCGACGC chr1:165429342-Alternative-G;Patient-33 chr1:165429342-TA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RXRG 14749 Alternative G ttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacag ATCTCATGGTTC CGACGCGGTCTCTCTCTttagatggatggcagcaggcaaagagagggcctgtgcagggaaactcccaGttttaaagccatcagatctcacaagacttattcactatcacgagaacagAGAGGGAGACGGACGTCTCAATAAatctcatggttcAGATCGAGACCCGACGC chr1:165429342-Alternative-G;Patient-33 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Reference T tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattga CTTGAATAGCCA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAActtgaatagccaAGATCGAGACCCGACGC chr1:166852630-Reference-T;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative A tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattga GATCGTAGGTAA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgatcgtaggtaaAGATCGAGACCCGACGC chr1:166852630-Alternative-A;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Variant G tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattga CTCACATCGAGA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAActcacatcgagaAGATCGAGACCCGACGC chr1:166852630-Variant-G;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative A tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattga AAGTCGCTCCGA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAaagtcgctccgaAGATCGAGACCCGACGC chr1:166852630-Alternative-A;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative A tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattga GGCTAACGATAT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAggctaacgatatAGATCGAGACCCGACGC chr1:166852630-Alternative-A;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Reference T tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattga ATAGCGTCAAGT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAatagcgtcaagtAGATCGAGACCCGACGC chr1:166852630-Reference-T;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative A tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattga GTGCTTCACGTC CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgtgcttcacgtcAGATCGAGACCCGACGC chr1:166852630-Alternative-A;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative C tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattga GATGCGGCTTCT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgatgcggcttctAGATCGAGACCCGACGC chr1:166852630-Alternative-C;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative A tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattga AACGATCCTCAA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaAgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAaacgatcctcaaAGATCGAGACCCGACGC chr1:166852630-Alternative-A;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Reference T tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattga ACCGATCTGGAG CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAaccgatctggagAGATCGAGACCCGACGC chr1:166852630-Reference-T;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Variant G tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattga GATATCTCATCG CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgatatctcatcgAGATCGAGACCCGACGC chr1:166852630-Variant-G;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Reference T tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattga GTAGCGTGTACG CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgtagcgtgtacgAGATCGAGACCCGACGC chr1:166852630-Reference-T;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Variant G tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattga GAGTGTGACAAG CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgagtgtgacaagAGATCGAGACCCGACGC chr1:166852630-Variant-G;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Variant G tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattga ACTCCGCAATAA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAactccgcaataaAGATCGAGACCCGACGC chr1:166852630-Variant-G;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Reference T tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattga AGGAACAGCTAA CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaTgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAaggaacagctaaAGATCGAGACCCGACGC chr1:166852630-Reference-T;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Variant G tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattga CGGTAGCGACTT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaGgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAcggtagcgacttAGATCGAGACCCGACGC chr1:166852630-Variant-G;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative C tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattga CGAACATCGACT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAcgaacatcgactAGATCGAGACCCGACGC chr1:166852630-Alternative-C;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative C tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattga AGGCCGTCACTT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAaggccgtcacttAGATCGAGACCCGACGC chr1:166852630-Alternative-C;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative C tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattga CGTCGTGTGCTT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAcgtcgtgtgcttAGATCGAGACCCGACGC chr1:166852630-Alternative-C;Patient-55 chr1:166852630-TG DeNovo Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.53 TADA1 6975 Alternative C tctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattga GACCGATTATGT CGACGCGGTCTCTCTCTtctacaatgatagaaatgtcctagagctgggttctccaatacggcagccaCgtatggctatttagcacttgagatacagttagtgagactcaggaattgaAGAGGGAGACGGACGTCTCAATAAgaccgattatgtAGATCGAGACCCGACGC chr1:166852630-Alternative-C;Patient-55 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative G gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcac AGATACAGACAC CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAagatacagacacAGATCGAGACCCGACGC chr1:167497017-Alternative-G;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Reference T gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcac CGAGTGTTCAAT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAcgagtgttcaatAGATCGAGACCCGACGC chr1:167497017-Reference-T;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative A gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcac CTCTAATTCGCA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAActctaattcgcaAGATCGAGACCCGACGC chr1:167497017-Alternative-A;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Variant C gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcac CGTGTTGCTCGT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAcgtgttgctcgtAGATCGAGACCCGACGC chr1:167497017-Variant-C;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Reference T gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcac ATCGGATTCCAA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAatcggattccaaAGATCGAGACCCGACGC chr1:167497017-Reference-T;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative A gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcac GAATGCACCTAT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAgaatgcacctatAGATCGAGACCCGACGC chr1:167497017-Alternative-A;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Variant C gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcac AGGCGCCTAACA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAaggcgcctaacaAGATCGAGACCCGACGC chr1:167497017-Variant-C;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative G gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcac ACGACTAAGTCT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAacgactaagtctAGATCGAGACCCGACGC chr1:167497017-Alternative-G;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative G gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcac CAAGTTCGTAGT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAcaagttcgtagtAGATCGAGACCCGACGC chr1:167497017-Alternative-G;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative G gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcac CTTGCGTCACGT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAActtgcgtcacgtAGATCGAGACCCGACGC chr1:167497017-Alternative-G;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative A gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcac ACGACGGTGTTC CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAacgacggtgttcAGATCGAGACCCGACGC chr1:167497017-Alternative-A;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative A gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcac CATTCGGAACAT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAcattcggaacatAGATCGAGACCCGACGC chr1:167497017-Alternative-A;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative A gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcac ACTACAAGTTCG CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttAttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAactacaagttcgAGATCGAGACCCGACGC chr1:167497017-Alternative-A;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Variant C gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcac AATCGGACATGA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAaatcggacatgaAGATCGAGACCCGACGC chr1:167497017-Variant-C;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Reference T gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcac CGGTGGTCCTAA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAcggtggtcctaaAGATCGAGACCCGACGC chr1:167497017-Reference-T;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Alternative G gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcac GGTTGGACGCTT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttGttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAggttggacgcttAGATCGAGACCCGACGC chr1:167497017-Alternative-G;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Variant C gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcac GTTCGTTGGACG CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAgttcgttggacgAGATCGAGACCCGACGC chr1:167497017-Variant-C;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Reference T gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcac GATACGGATCCA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAgatacggatccaAGATCGAGACCCGACGC chr1:167497017-Reference-T;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Variant C gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcac ACTTCGCTATGT CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttCttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAacttcgctatgtAGATCGAGACCCGACGC chr1:167497017-Variant-C;Patient-111 chr1:167497017-TC Inherited Patient-111 intergenic 0.000442 3.91e-05 0.2 5.85 0.15 CD247 9169 Reference T gctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcac ACAGGACACCTA CGACGCGGTCTCTCTCTgctgggagtagaggctgaggaaactgacatatcagtaactgctggtccttTttttttttttttttttttttttttttgagacagggtcttactctgtcacAGAGGGAGACGGACGTCTCAATAAacaggacacctaAGATCGAGACCCGACGC chr1:167497017-Reference-T;Patient-111 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative A aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc AGCTAACGACTA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAagctaacgactaAGATCGAGACCCGACGC chr1:168112747-Alternative-A;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative A aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc ACGCATCGAGCT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAacgcatcgagctAGATCGAGACCCGACGC chr1:168112747-Alternative-A;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative A aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc ACAACGGACATT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAacaacggacattAGATCGAGACCCGACGC chr1:168112747-Alternative-A;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Variant G aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc ACAACACGCGCA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAacaacacgcgcaAGATCGAGACCCGACGC chr1:168112747-Variant-G;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative A aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc GCGTGATTAAGA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAgcgtgattaagaAGATCGAGACCCGACGC chr1:168112747-Alternative-A;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative T aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CACGCGAACAGT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcacgcgaacagtAGATCGAGACCCGACGC chr1:168112747-Alternative-T;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Reference C aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc GGCTATTCTAAG CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAggctattctaagAGATCGAGACCCGACGC chr1:168112747-Reference-C;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative T aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc ACACGAAGACCA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAacacgaagaccaAGATCGAGACCCGACGC chr1:168112747-Alternative-T;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative T aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CTAGGCTTAGAT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAActaggcttagatAGATCGAGACCCGACGC chr1:168112747-Alternative-T;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative A aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc ATTATAGCCGCG CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagAaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAattatagccgcgAGATCGAGACCCGACGC chr1:168112747-Alternative-A;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative T aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CATTGAACGGAC CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcattgaacggacAGATCGAGACCCGACGC chr1:168112747-Alternative-T;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Reference C aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CTGGTGGATTAT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAActggtggattatAGATCGAGACCCGACGC chr1:168112747-Reference-C;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Variant G aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CGTCAATTACGA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcgtcaattacgaAGATCGAGACCCGACGC chr1:168112747-Variant-G;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Variant G aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc GATTCTACAGCA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAgattctacagcaAGATCGAGACCCGACGC chr1:168112747-Variant-G;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Alternative T aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CGGAAGGTTATT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagTaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcggaaggttattAGATCGAGACCCGACGC chr1:168112747-Alternative-T;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Reference C aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CAGCTCCGCATT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcagctccgcattAGATCGAGACCCGACGC chr1:168112747-Reference-C;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Variant G aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CTGGTGATACAG CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAActggtgatacagAGATCGAGACCCGACGC chr1:168112747-Variant-G;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Reference C aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc CGGCGTATAGGT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAcggcgtataggtAGATCGAGACCCGACGC chr1:168112747-Reference-C;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Reference C aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc AGATGATGGCTT CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagCaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAagatgatggcttAGATCGAGACCCGACGC chr1:168112747-Reference-C;Patient-100 chr1:168112747-CG DeNovo Patient-100 intergenic 0.000448 0.00142 0.09 4.05 1.66 GPR161 5841 Variant G aatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggc AGCTATCCGTTA CGACGCGGTCTCTCTCTaatgagaacacagaaggagtgagcactcctgtagcaatgaacactgctagGaagcagacgtagtcttaaaataccacttctcattaagaggaactaaggcAGAGGGAGACGGACGTCTCAATAAagctatccgttaAGATCGAGACCCGACGC chr1:168112747-Variant-G;Patient-100 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative G caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GATAGGTGGTAT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgataggtggtatAGATCGAGACCCGACGC chr1:169154115-Alternative-G;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative A caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatct CGAGTTCTGTTA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAcgagttctgttaAGATCGAGACCCGACGC chr1:169154115-Alternative-A;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative A caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatct AGTACGTCGCGA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAagtacgtcgcgaAGATCGAGACCCGACGC chr1:169154115-Alternative-A;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Variant T caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatct ATAGACTTGACG CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAatagacttgacgAGATCGAGACCCGACGC chr1:169154115-Variant-T;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Variant T caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GGTTCGACAATT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAggttcgacaattAGATCGAGACCCGACGC chr1:169154115-Variant-T;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Variant T caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GGCGTAAGTAGG CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAggcgtaagtaggAGATCGAGACCCGACGC chr1:169154115-Variant-T;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative A caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatct GGCAATATCGTT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAggcaatatcgttAGATCGAGACCCGACGC chr1:169154115-Alternative-A;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative G caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatct CGTATGGTGTAA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAcgtatggtgtaaAGATCGAGACCCGACGC chr1:169154115-Alternative-G;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Variant T caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatct ATACGGAACGAG CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAatacggaacgagAGATCGAGACCCGACGC chr1:169154115-Variant-T;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative G caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatct ATAGCCTACAGG CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAatagcctacaggAGATCGAGACCCGACGC chr1:169154115-Alternative-G;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Variant T caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GGTTCGATACGA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattTctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAggttcgatacgaAGATCGAGACCCGACGC chr1:169154115-Variant-T;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative G caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GTGGCTCTCCTA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgtggctctcctaAGATCGAGACCCGACGC chr1:169154115-Alternative-G;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative A caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatct GATTGCGGATTA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgattgcggattaAGATCGAGACCCGACGC chr1:169154115-Alternative-A;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative G caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GGTAAGGCGCAA CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattGctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAggtaaggcgcaaAGATCGAGACCCGACGC chr1:169154115-Alternative-G;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Alternative A caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatct GTAACAACAGGT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattActaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgtaacaacaggtAGATCGAGACCCGACGC chr1:169154115-Alternative-A;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Reference C caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GCATAAGACGGC CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgcataagacggcAGATCGAGACCCGACGC chr1:169154115-Reference-C;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Reference C caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatct CTGCGTTCAACC CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAActgcgttcaaccAGATCGAGACCCGACGC chr1:169154115-Reference-C;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Reference C caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatct CTGAGTGCGGAT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAActgagtgcggatAGATCGAGACCCGACGC chr1:169154115-Reference-C;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Reference C caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatct GACGATGAACAG CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAgacgatgaacagAGATCGAGACCCGACGC chr1:169154115-Reference-C;Patient-66 chr1:169154115-CT DeNovo Patient-66 intronic NME7 3.2e-05 4.95e-05 0.31 7.29 2.08 ATP1B1 78167 Reference C caataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatct ATCTTGGACGAT CGACGCGGTCTCTCTCTcaataaaaaacagatttgtattgtttgctcattttcatggtgtaaatattCctaccaaggcagagcatagaattggaaagtgatactaacaattagatctAGAGGGAGACGGACGTCTCAATAAatcttggacgatAGATCGAGACCCGACGC chr1:169154115-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative G gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc AAGGTAGTACGT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAaaggtagtacgtAGATCGAGACCCGACGC chr1:169631249-Alternative-G;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative G gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CGAACACGCAAG CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcgaacacgcaagAGATCGAGACCCGACGC chr1:169631249-Alternative-G;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Variant T gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CGTAACGTGCGA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcgtaacgtgcgaAGATCGAGACCCGACGC chr1:169631249-Variant-T;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative G gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc ACGCCGAATTCG CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAacgccgaattcgAGATCGAGACCCGACGC chr1:169631249-Alternative-G;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Variant T gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GACAATGTTCGT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgacaatgttcgtAGATCGAGACCCGACGC chr1:169631249-Variant-T;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Variant T gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GTGTACGCGTCT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgtgtacgcgtctAGATCGAGACCCGACGC chr1:169631249-Variant-T;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Variant T gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc AGCTACTGGCGA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAagctactggcgaAGATCGAGACCCGACGC chr1:169631249-Variant-T;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Variant T gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GATATGATGCCT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccTgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgatatgatgcctAGATCGAGACCCGACGC chr1:169631249-Variant-T;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative A gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc AACAGCGAGTTA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAaacagcgagttaAGATCGAGACCCGACGC chr1:169631249-Alternative-A;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Reference C gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CACATTGCGTCG CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcacattgcgtcgAGATCGAGACCCGACGC chr1:169631249-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Reference C gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CGGCCATTGAGA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcggccattgagaAGATCGAGACCCGACGC chr1:169631249-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative G gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc ATCCGTAGACTT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAatccgtagacttAGATCGAGACCCGACGC chr1:169631249-Alternative-G;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Reference C gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CAACCGACCATC CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcaaccgaccatcAGATCGAGACCCGACGC chr1:169631249-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative G gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GTTCGACCGTAC CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccGgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgttcgaccgtacAGATCGAGACCCGACGC chr1:169631249-Alternative-G;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Reference C gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc CACTTCGTCACG CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAcacttcgtcacgAGATCGAGACCCGACGC chr1:169631249-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Reference C gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc AGTGAATGACCA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccCgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAagtgaatgaccaAGATCGAGACCCGACGC chr1:169631249-Reference-C;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative A gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GATCGCTCTCGT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgatcgctctcgtAGATCGAGACCCGACGC chr1:169631249-Alternative-A;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative A gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GCGAACTATCAT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgcgaactatcatAGATCGAGACCCGACGC chr1:169631249-Alternative-A;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative A gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc GTACGGACATTA CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAgtacggacattaAGATCGAGACCCGACGC chr1:169631249-Alternative-A;Patient-66 chr1:169631249-CT DeNovo Patient-66 intergenic 0.000606 0.002051282 -0.13 1.14 0 SELE 71970 Alternative A gggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgc ACTTATGCGACT CGACGCGGTCTCTCTCTgggccagataagagaataaaagcaggctgcatgagccagcagtggcaaccAgctcgggtccccttccacactgtggaagctttgttctttcgctctttgcAGAGGGAGACGGACGTCTCAATAAacttatgcgactAGATCGAGACCCGACGC chr1:169631249-Alternative-A;Patient-66 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Variant G gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ATACGCGGAGCA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAatacgcggagcaAGATCGAGACCCGACGC chr1:179205236-Variant-G;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Variant G gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag AGCATAAGATGC CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAagcataagatgcAGATCGAGACCCGACGC chr1:179205236-Variant-G;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative C gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag CTTGCGTGGCTA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAActtgcgtggctaAGATCGAGACCCGACGC chr1:179205236-Alternative-C;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative C gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GTCGCAATTACA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAgtcgcaattacaAGATCGAGACCCGACGC chr1:179205236-Alternative-C;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Variant G gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag AGCTGGAACGCA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAagctggaacgcaAGATCGAGACCCGACGC chr1:179205236-Variant-G;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative T gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ACAGCTATGCTA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAacagctatgctaAGATCGAGACCCGACGC chr1:179205236-Alternative-T;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative C gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ATCGAAGAATCG CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAatcgaagaatcgAGATCGAGACCCGACGC chr1:179205236-Alternative-C;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative C gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GGACATTGTCAT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAggacattgtcatAGATCGAGACCCGACGC chr1:179205236-Alternative-C;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative T gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GCAATCGGATAT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAgcaatcggatatAGATCGAGACCCGACGC chr1:179205236-Alternative-T;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative T gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GTTGACTCTATC CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAgttgactctatcAGATCGAGACCCGACGC chr1:179205236-Alternative-T;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Reference A gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag CGGAGTCCGAAT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAcggagtccgaatAGATCGAGACCCGACGC chr1:179205236-Reference-A;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative C gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ACGTCGTCGCTT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgCtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAacgtcgtcgcttAGATCGAGACCCGACGC chr1:179205236-Alternative-C;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Reference A gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag CTCGCTACAACC CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAActcgctacaaccAGATCGAGACCCGACGC chr1:179205236-Reference-A;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative T gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GTCGAGTCGCAT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAgtcgagtcgcatAGATCGAGACCCGACGC chr1:179205236-Alternative-T;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Reference A gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag AGAGCACATCAA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAagagcacatcaaAGATCGAGACCCGACGC chr1:179205236-Reference-A;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Alternative T gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ACAAGTCGGCTT CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgTtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAacaagtcggcttAGATCGAGACCCGACGC chr1:179205236-Alternative-T;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Reference A gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GTTAATCCGGAA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAgttaatccggaaAGATCGAGACCCGACGC chr1:179205236-Reference-A;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Reference A gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag GGTTGTTGGTCG CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgAtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAggttgttggtcgAGATCGAGACCCGACGC chr1:179205236-Reference-A;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Variant G gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag ATTCTGGTCGAA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAAattctggtcgaaAGATCGAGACCCGACGC chr1:179205236-Variant-G;Patient-79 chr1:179205236-AG DeNovo Patient-79 intergenic NA 0.000513 -0.2 0.7 -1.61 SOAT1 57612 Variant G gaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgag CTAGTGGCTTAA CGACGCGGTCTCTCTCTgaggaagacatccataaacatgtaattacaataacgtgtagtaagtgttgGtagggggataaggggttactgtggaaacgtataaccatttgaaggtgagAGAGGGAGACGGACGTCTCAATAActagtggcttaaAGATCGAGACCCGACGC chr1:179205236-Variant-G;Patient-79 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative G gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AAGTCGACGGAA CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAaagtcgacggaaAGATCGAGACCCGACGC chr1:181395949-Alternative-G;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative A gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AGTACCTCCAAC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAagtacctccaacAGATCGAGACCCGACGC chr1:181395949-Alternative-A;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Reference C gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac ACTATCTCAAGG CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAactatctcaaggAGATCGAGACCCGACGC chr1:181395949-Reference-C;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative A gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AGCCGGCTACAT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAagccggctacatAGATCGAGACCCGACGC chr1:181395949-Alternative-A;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative A gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac GTAATACGGCGG CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAgtaatacggcggAGATCGAGACCCGACGC chr1:181395949-Alternative-A;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative G gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGATAATCCGGC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcgataatccggcAGATCGAGACCCGACGC chr1:181395949-Alternative-G;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Reference C gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AGATTAGCATGC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAagattagcatgcAGATCGAGACCCGACGC chr1:181395949-Reference-C;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative A gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGACGTGGTTGT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcgacgtggttgtAGATCGAGACCCGACGC chr1:181395949-Alternative-A;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Variant T gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac GCGATTAGTGTT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAgcgattagtgttAGATCGAGACCCGACGC chr1:181395949-Variant-T;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative G gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac ACGTTGAGTTGT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAacgttgagttgtAGATCGAGACCCGACGC chr1:181395949-Alternative-G;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative A gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGGAACAGTACC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcAcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcggaacagtaccAGATCGAGACCCGACGC chr1:181395949-Alternative-A;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative G gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CAGCGGAATACG CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcagcggaatacgAGATCGAGACCCGACGC chr1:181395949-Alternative-G;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Variant T gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGTCGATACAGG CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcgtcgatacaggAGATCGAGACCCGACGC chr1:181395949-Variant-T;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Reference C gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGCCGATTCACA CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcgccgattcacaAGATCGAGACCCGACGC chr1:181395949-Reference-C;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Reference C gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac CGAACTTGTCTT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAcgaacttgtcttAGATCGAGACCCGACGC chr1:181395949-Reference-C;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Reference C gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AATGACACGCTT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcCcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAaatgacacgcttAGATCGAGACCCGACGC chr1:181395949-Reference-C;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Variant T gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac GCATCAAGTTGT CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAgcatcaagttgtAGATCGAGACCCGACGC chr1:181395949-Variant-T;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Alternative G gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AGCACGTCAATC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcGcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAagcacgtcaatcAGATCGAGACCCGACGC chr1:181395949-Alternative-G;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Variant T gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac AACGAATCAGCA CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAaacgaatcagcaAGATCGAGACCCGACGC chr1:181395949-Variant-T;Patient-54 chr1:181395949-CT DeNovo Patient-54 intergenic NA 0.000513 -0.62 0.04 -2.56 CACNA1E 56736 Variant T gtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcac GAGTTACAACGC CGACGCGGTCTCTCTCTgtcaatctcaaccccttcacaactcaaccccttcctatttcaaccccttcTcatctcaactccttcccatctaaaccccttcacatgtcaaccccttcacAGAGGGAGACGGACGTCTCAATAAgagttacaacgcAGATCGAGACCCGACGC chr1:181395949-Variant-T;Patient-54 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Reference T atatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctccttt CTACGATCAGCA CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAActacgatcagcaAGATCGAGACCCGACGC chr1:182315480-Reference-T;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Reference T atatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctccttt CTGCGGACGAAT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAActgcggacgaatAGATCGAGACCCGACGC chr1:182315480-Reference-T;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Reference T atatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctccttt GGAGAACGTGCT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAggagaacgtgctAGATCGAGACCCGACGC chr1:182315480-Reference-T;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative A atatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctccttt GGTCATTGACAG CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAggtcattgacagAGATCGAGACCCGACGC chr1:182315480-Alternative-A;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative G atatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctccttt CATTGTGCCGAC CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAcattgtgccgacAGATCGAGACCCGACGC chr1:182315480-Alternative-G;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Reference T atatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctccttt ATACGGTACCGG CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAatacggtaccggAGATCGAGACCCGACGC chr1:182315480-Reference-T;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative G atatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctccttt ATCGTCAGATCA CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAatcgtcagatcaAGATCGAGACCCGACGC chr1:182315480-Alternative-G;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Reference T atatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctccttt GTGCCGAGTTCT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatTttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAgtgccgagttctAGATCGAGACCCGACGC chr1:182315480-Reference-T;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative A atatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctccttt CGATAATCGCAC CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAcgataatcgcacAGATCGAGACCCGACGC chr1:182315480-Alternative-A;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative G atatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctccttt GGATCCATACGA CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAggatccatacgaAGATCGAGACCCGACGC chr1:182315480-Alternative-G;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative G atatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctccttt GATTGACCGATT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAgattgaccgattAGATCGAGACCCGACGC chr1:182315480-Alternative-G;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative A atatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctccttt ACGAGTCATAGT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAacgagtcatagtAGATCGAGACCCGACGC chr1:182315480-Alternative-A;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative A atatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctccttt AGAACGCTAGCT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAagaacgctagctAGATCGAGACCCGACGC chr1:182315480-Alternative-A;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative G atatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctccttt AGATGGACCGTT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatGttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAagatggaccgttAGATCGAGACCCGACGC chr1:182315480-Alternative-G;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Alternative A atatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctccttt AGATCGTAGTCT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatAttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAagatcgtagtctAGATCGAGACCCGACGC chr1:182315480-Alternative-A;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Variant C atatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctccttt CTCTACGCAGTC CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAActctacgcagtcAGATCGAGACCCGACGC chr1:182315480-Variant-C;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Variant C atatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctccttt CTCGGCATAAGT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAActcggcataagtAGATCGAGACCCGACGC chr1:182315480-Variant-C;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Variant C atatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctccttt ATTACCGCTTGT CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAattaccgcttgtAGATCGAGACCCGACGC chr1:182315480-Variant-C;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Variant C atatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctccttt GGTAGTTAGCTA CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAggtagttagctaAGATCGAGACCCGACGC chr1:182315480-Variant-C;Patient-37 chr1:182315480-TC Inherited Patient-37 intergenic NA 0.000513 0.43 8.69 0.1 GLUL 45860 Variant C atatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctccttt ACACGATCGGAC CGACGCGGTCTCTCTCTatatttgttatatttgtttggttttgtattcattctagtttgatctttatCttgatttttttccttttctttctatttcctaagttttgtcacctcctttAGAGGGAGACGGACGTCTCAATAAacacgatcggacAGATCGAGACCCGACGC chr1:182315480-Variant-C;Patient-37 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Variant T ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GCATAATCAACC CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgcataatcaaccAGATCGAGACCCGACGC chr1:182376670-Variant-T;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative G ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac AGGTGTCGAACG CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAaggtgtcgaacgAGATCGAGACCCGACGC chr1:182376670-Alternative-G;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative A ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ACTGAACCGAAC CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAactgaaccgaacAGATCGAGACCCGACGC chr1:182376670-Alternative-A;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative G ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac AGCTGACTATCA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAagctgactatcaAGATCGAGACCCGACGC chr1:182376670-Alternative-G;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Reference C ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GATGGAATGACT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgatggaatgactAGATCGAGACCCGACGC chr1:182376670-Reference-C;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Variant T ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ATCATAACGGAG CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAatcataacggagAGATCGAGACCCGACGC chr1:182376670-Variant-T;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Reference C ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ATCATGTCGTTC CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAatcatgtcgttcAGATCGAGACCCGACGC chr1:182376670-Reference-C;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative A ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ACGAGAGTACTA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAacgagagtactaAGATCGAGACCCGACGC chr1:182376670-Alternative-A;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Reference C ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac CGGTATCATAAG CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAcggtatcataagAGATCGAGACCCGACGC chr1:182376670-Reference-C;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative A ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ATCTGACTGCCG CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAatctgactgccgAGATCGAGACCCGACGC chr1:182376670-Alternative-A;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative G ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac CGGATTCCGTCA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAcggattccgtcaAGATCGAGACCCGACGC chr1:182376670-Alternative-G;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Variant T ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GATTGGACCGGT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgattggaccggtAGATCGAGACCCGACGC chr1:182376670-Variant-T;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Variant T ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac CAGGTAGGCAGT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAcaggtaggcagtAGATCGAGACCCGACGC chr1:182376670-Variant-T;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Reference C ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GACATGGAATCA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgacatggaatcaAGATCGAGACCCGACGC chr1:182376670-Reference-C;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative G ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GACGGAGAACTA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgacggagaactaAGATCGAGACCCGACGC chr1:182376670-Alternative-G;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Variant T ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac CTGCGATTCGGT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaTtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAActgcgattcggtAGATCGAGACCCGACGC chr1:182376670-Variant-T;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative A ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac CATCGCGTGAGA CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAcatcgcgtgagaAGATCGAGACCCGACGC chr1:182376670-Alternative-A;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative A ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac ATCGTAGACACT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaAtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAatcgtagacactAGATCGAGACCCGACGC chr1:182376670-Alternative-A;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Alternative G ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GATGATAGACGT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaGtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgatgatagacgtAGATCGAGACCCGACGC chr1:182376670-Alternative-G;Patient-67 chr1:182376670-CT DeNovo Patient-67 intergenic 0.000988 0.000476191 -0.28 0.43 -5.18 GLUL 15328 Reference C ctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaac GTTGGACGGAGT CGACGCGGTCTCTCTCTctgcaggcatgcaggtgggctgaatttgttcactagtaatattacttctaCtgcctttggggcagtgggtctagggatgcagtggatgtgggggacaaacAGAGGGAGACGGACGTCTCAATAAgttggacggagtAGATCGAGACCCGACGC chr1:182376670-Reference-C;Patient-67 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Reference A acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa ATCTCAGCGTGC CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAatctcagcgtgcAGATCGAGACCCGACGC chr1:1861930-Reference-A;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Reference A acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GTGAATTCCGCG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAgtgaattccgcgAGATCGAGACCCGACGC chr1:1861930-Reference-A;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Reference A acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GGCTTCTAGACG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAggcttctagacgAGATCGAGACCCGACGC chr1:1861930-Reference-A;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative T acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GAGAGTCACTAT CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAgagagtcactatAGATCGAGACCCGACGC chr1:1861930-Alternative-T;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Reference A acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CGTTGACGTATA CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcgttgacgtataAGATCGAGACCCGACGC chr1:1861930-Reference-A;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Reference A acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa AACGTTCTCGTT CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaAgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAaacgttctcgttAGATCGAGACCCGACGC chr1:1861930-Reference-A;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative T acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CTCTAGGCGACT CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAActctaggcgactAGATCGAGACCCGACGC chr1:1861930-Alternative-T;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Variant C acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CTAGACGTCGCA CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAActagacgtcgcaAGATCGAGACCCGACGC chr1:1861930-Variant-C;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative T acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CAACCAGTATAC CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcaaccagtatacAGATCGAGACCCGACGC chr1:1861930-Alternative-T;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Variant C acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa ATTACACTCGCT CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAattacactcgctAGATCGAGACCCGACGC chr1:1861930-Variant-C;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Variant C acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CGAGAGCGAGAA CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcgagagcgagaaAGATCGAGACCCGACGC chr1:1861930-Variant-C;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Variant C acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GGTGACGTCAAG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAggtgacgtcaagAGATCGAGACCCGACGC chr1:1861930-Variant-C;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Variant C acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GCAACTGGTAGG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaCgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAgcaactggtaggAGATCGAGACCCGACGC chr1:1861930-Variant-C;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative G acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GTCATTATTCGG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAgtcattattcggAGATCGAGACCCGACGC chr1:1861930-Alternative-G;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative G acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CGGCGAATTGAC CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcggcgaattgacAGATCGAGACCCGACGC chr1:1861930-Alternative-G;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative G acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CGAGCTAACGAC CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcgagctaacgacAGATCGAGACCCGACGC chr1:1861930-Alternative-G;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative T acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GCATGGTGGTAC CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAgcatggtggtacAGATCGAGACCCGACGC chr1:1861930-Alternative-T;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative T acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa AGGAGTTGTGCG CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaTgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAaggagttgtgcgAGATCGAGACCCGACGC chr1:1861930-Alternative-T;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative G acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa GGTTCTGGCGTT CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAggttctggcgttAGATCGAGACCCGACGC chr1:1861930-Alternative-G;Patient-33 chr1:1861930-AC DeNovo Patient-33 intergenic NA 6.28e-05 NA NA NA GABRD 88837 Alternative G acagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaa CATCGTTGTAGA CGACGCGGTCTCTCTCTacagggacatgcacgttcctgctgcccagggggtcactgcgccgctgacaGgtttcgaaaatacagcgtatccttgtgcacatttgaggtgggtggctaaAGAGGGAGACGGACGTCTCAATAAcatcgttgtagaAGATCGAGACCCGACGC chr1:1861930-Alternative-G;Patient-33 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative A tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa GGCTAATTAGCA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAggctaattagcaAGATCGAGACCCGACGC chr1:186852055-Alternative-A;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative A tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa AAGTTAACGGCA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAaagttaacggcaAGATCGAGACCCGACGC chr1:186852055-Alternative-A;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Reference C tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CACGTCCTGGAT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcacgtcctggatAGATCGAGACCCGACGC chr1:186852055-Reference-C;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative A tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ACTGTGTCACTT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAactgtgtcacttAGATCGAGACCCGACGC chr1:186852055-Alternative-A;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Reference C tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ATTGTGCCGCGA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAattgtgccgcgaAGATCGAGACCCGACGC chr1:186852055-Reference-C;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative A tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ATCGCTACAACT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAatcgctacaactAGATCGAGACCCGACGC chr1:186852055-Alternative-A;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative G tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CATATACACGAC CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcatatacacgacAGATCGAGACCCGACGC chr1:186852055-Alternative-G;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Reference C tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ACGATACTACGC CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAacgatactacgcAGATCGAGACCCGACGC chr1:186852055-Reference-C;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Reference C tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ATTGTCGTCTAC CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAattgtcgtctacAGATCGAGACCCGACGC chr1:186852055-Reference-C;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Variant T tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CGCTGGAACCTT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcgctggaaccttAGATCGAGACCCGACGC chr1:186852055-Variant-T;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Variant T tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa AGCCTTGAAGAT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAagccttgaagatAGATCGAGACCCGACGC chr1:186852055-Variant-T;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative G tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CATAACGCGCGA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcataacgcgcgaAGATCGAGACCCGACGC chr1:186852055-Alternative-G;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Reference C tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ATAATCGGCGGC CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaCggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAataatcggcggcAGATCGAGACCCGACGC chr1:186852055-Reference-C;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Variant T tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa AATCTGGCGTCG CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAaatctggcgtcgAGATCGAGACCCGACGC chr1:186852055-Variant-T;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative G tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CATCAATTGCGA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcatcaattgcgaAGATCGAGACCCGACGC chr1:186852055-Alternative-G;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative G tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CAAGGTGATCTT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcaaggtgatcttAGATCGAGACCCGACGC chr1:186852055-Alternative-G;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Variant T tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa ATACTTGTCGTC CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAatacttgtcgtcAGATCGAGACCCGACGC chr1:186852055-Variant-T;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Variant T tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa GGAATGGTAGCA CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaTggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAggaatggtagcaAGATCGAGACCCGACGC chr1:186852055-Variant-T;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative A tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa AACACGCAACAT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaAggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAaacacgcaacatAGATCGAGACCCGACGC chr1:186852055-Alternative-A;Patient-105 chr1:186852055-CT DeNovo Patient-105 intronic PLA2G4A 3.2e-05 3.85e-05 -0.06 1.83 -1.8 PLA2G4A 53969 Alternative G tggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaa CACGCGTAGTCT CGACGCGGTCTCTCTCTtggatatttgaatcgtgaagaaaagacaactctcgtgtttctaggccagaGggttagaaaagatgacatcattaaataaaataggaaagaaagtgaggaaAGAGGGAGACGGACGTCTCAATAAcacgcgtagtctAGATCGAGACCCGACGC chr1:186852055-Alternative-G;Patient-105 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Variant G agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CTGTGGAGAACG CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAActgtggagaacgAGATCGAGACCCGACGC chr1:192078810-Variant-G;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Variant G agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GCGCAACGAGAA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgcgcaacgagaaAGATCGAGACCCGACGC chr1:192078810-Variant-G;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Variant G agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CAATATAGCGCT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcaatatagcgctAGATCGAGACCCGACGC chr1:192078810-Variant-G;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Variant G agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca AGCGTCAATCGC CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAagcgtcaatcgcAGATCGAGACCCGACGC chr1:192078810-Variant-G;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative T agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CGTGTTCCACCA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcgtgttccaccaAGATCGAGACCCGACGC chr1:192078810-Alternative-T;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Variant G agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca ATCGCTAACCGC CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaGggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAatcgctaaccgcAGATCGAGACCCGACGC chr1:192078810-Variant-G;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Reference A agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca ACGGCGGCAATA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAacggcggcaataAGATCGAGACCCGACGC chr1:192078810-Reference-A;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative C agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GACAACATGTTC CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgacaacatgttcAGATCGAGACCCGACGC chr1:192078810-Alternative-C;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Reference A agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CGAATAGGAGCT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcgaataggagctAGATCGAGACCCGACGC chr1:192078810-Reference-A;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative C agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CTACAAGTTCCT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAActacaagttcctAGATCGAGACCCGACGC chr1:192078810-Alternative-C;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative C agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GTGATAACAGCA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgtgataacagcaAGATCGAGACCCGACGC chr1:192078810-Alternative-C;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative C agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GTAACGGCTAAT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgtaacggctaatAGATCGAGACCCGACGC chr1:192078810-Alternative-C;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative C agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca AGGTGCGGTGAA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaCggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAaggtgcggtgaaAGATCGAGACCCGACGC chr1:192078810-Alternative-C;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative T agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GACGTCTTCGAG CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgacgtcttcgagAGATCGAGACCCGACGC chr1:192078810-Alternative-T;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Reference A agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca ACCGATCCGATA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAaccgatccgataAGATCGAGACCCGACGC chr1:192078810-Reference-A;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative T agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca GAAGTGTCGGAC CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAgaagtgtcggacAGATCGAGACCCGACGC chr1:192078810-Alternative-T;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative T agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CGGCGTGTAGAA CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcggcgtgtagaaAGATCGAGACCCGACGC chr1:192078810-Alternative-T;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Alternative T agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CATAATTGACCG CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaTggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcataattgaccgAGATCGAGACCCGACGC chr1:192078810-Alternative-T;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Reference A agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CGCGTAGAGGTT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcgcgtagaggttAGATCGAGACCCGACGC chr1:192078810-Reference-A;Patient-49 chr1:192078810-AG Inherited Patient-49 intergenic NA 0.000513 0.14 4.88 0.57 RGS18 48781 Reference A agtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattca CGCGGTCGTAAT CGACGCGGTCTCTCTCTagtgtaacacttatgggaagattcacacctaattaggccctttgagttaaAggtctatcaggtttctgttgctgtatgggcaggaggttgaaaagattcaAGAGGGAGACGGACGTCTCAATAAcgcggtcgtaatAGATCGAGACCCGACGC chr1:192078810-Reference-A;Patient-49 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative G ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GGCGTGTCACTT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAggcgtgtcacttAGATCGAGACCCGACGC chr1:192176110-Alternative-G;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative G ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa AACGACCGTTAT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAaacgaccgttatAGATCGAGACCCGACGC chr1:192176110-Alternative-G;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative A ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ACACTAGCTCTT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAacactagctcttAGATCGAGACCCGACGC chr1:192176110-Alternative-A;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Variant C ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CGTCCTGGTTGT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAcgtcctggttgtAGATCGAGACCCGACGC chr1:192176110-Variant-C;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Variant C ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CGTAATCGTAGT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAcgtaatcgtagtAGATCGAGACCCGACGC chr1:192176110-Variant-C;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Variant C ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ACGTGATACCAT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAacgtgataccatAGATCGAGACCCGACGC chr1:192176110-Variant-C;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Variant C ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GCGATCCTCACA CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAgcgatcctcacaAGATCGAGACCCGACGC chr1:192176110-Variant-C;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative A ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ACGCAACGTACA CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAacgcaacgtacaAGATCGAGACCCGACGC chr1:192176110-Alternative-A;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Variant C ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CTAACGTTGAGT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaCtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAActaacgttgagtAGATCGAGACCCGACGC chr1:192176110-Variant-C;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative G ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ACCTATGGCTAA CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAacctatggctaaAGATCGAGACCCGACGC chr1:192176110-Alternative-G;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative G ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CTTGTAGTCGCG CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAActtgtagtcgcgAGATCGAGACCCGACGC chr1:192176110-Alternative-G;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Reference T ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GTACCGGTTCAC CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAgtaccggttcacAGATCGAGACCCGACGC chr1:192176110-Reference-T;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Reference T ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GTGGCGTGATCA CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAgtggcgtgatcaAGATCGAGACCCGACGC chr1:192176110-Reference-T;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative A ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa AACTACGCTTGT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAaactacgcttgtAGATCGAGACCCGACGC chr1:192176110-Alternative-A;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Reference T ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GCAGTTGTAGTT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAgcagttgtagttAGATCGAGACCCGACGC chr1:192176110-Reference-T;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative A ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CGACGAAGATGC CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAcgacgaagatgcAGATCGAGACCCGACGC chr1:192176110-Alternative-A;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative G ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa CAAGTCAAGACG CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaGtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAcaagtcaagacgAGATCGAGACCCGACGC chr1:192176110-Alternative-G;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Alternative A ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ATCGTAGCGCCT CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaAtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAatcgtagcgcctAGATCGAGACCCGACGC chr1:192176110-Alternative-A;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Reference T ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa ATCGGTATGTCA CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAatcggtatgtcaAGATCGAGACCCGACGC chr1:192176110-Reference-T;Patient-79 chr1:192176110-TC DeNovo Patient-79 intergenic NA 0.000512821 0.03 3.1 0 RGS18 48517 Reference T ggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaa GTATTGTCAACG CGACGCGGTCTCTCTCTggtttcaccatatgaattttagagaaacacaaacttggagttcataacaaTtatgtgtcgtaatcccctgaaatccatgaaactttaagtggccaggtaaAGAGGGAGACGGACGTCTCAATAAgtattgtcaacgAGATCGAGACCCGACGC chr1:192176110-Reference-T;Patient-79 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative C accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga ACTGCGGCATGT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAactgcggcatgtAGATCGAGACCCGACGC chr1:192964547-Alternative-C;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative C accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga AGATAGTAGCGT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAagatagtagcgtAGATCGAGACCCGACGC chr1:192964547-Alternative-C;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Variant G accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GTAGTGAACTTC CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgtagtgaacttcAGATCGAGACCCGACGC chr1:192964547-Variant-G;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative A accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga CAACGAAGCATA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAcaacgaagcataAGATCGAGACCCGACGC chr1:192964547-Alternative-A;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative A accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GTAACCTAGCGA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgtaacctagcgaAGATCGAGACCCGACGC chr1:192964547-Alternative-A;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative A accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga ACAGCGTGATAA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAacagcgtgataaAGATCGAGACCCGACGC chr1:192964547-Alternative-A;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative A accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga CGTTGCTCATGC CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAcgttgctcatgcAGATCGAGACCCGACGC chr1:192964547-Alternative-A;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative C accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GTACCGTGGTGT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgtaccgtggtgtAGATCGAGACCCGACGC chr1:192964547-Alternative-C;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative C accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GATACCGTACTA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgataccgtactaAGATCGAGACCCGACGC chr1:192964547-Alternative-C;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative C accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga CGCGGCTAAGAT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcCgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAcgcggctaagatAGATCGAGACCCGACGC chr1:192964547-Alternative-C;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Variant G accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga AACCGTAGTTCT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAaaccgtagttctAGATCGAGACCCGACGC chr1:192964547-Variant-G;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Alternative A accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GTACCACTGCGA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcAgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgtaccactgcgaAGATCGAGACCCGACGC chr1:192964547-Alternative-A;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Variant G accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga CTTAATGACGAC CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAActtaatgacgacAGATCGAGACCCGACGC chr1:192964547-Variant-G;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Variant G accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GTCCGCGGAATA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgtccgcggaataAGATCGAGACCCGACGC chr1:192964547-Variant-G;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Reference T accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga AGATTCGGCTTA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAagattcggcttaAGATCGAGACCCGACGC chr1:192964547-Reference-T;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Variant G accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga CAATATCTGCGT CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcGgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAcaatatctgcgtAGATCGAGACCCGACGC chr1:192964547-Variant-G;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Reference T accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga AGTTGGACAACA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAagttggacaacaAGATCGAGACCCGACGC chr1:192964547-Reference-T;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Reference T accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga ATAAGCGGATCA CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAataagcggatcaAGATCGAGACCCGACGC chr1:192964547-Reference-T;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Reference T accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GATACCGTCTGG CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgataccgtctggAGATCGAGACCCGACGC chr1:192964547-Reference-T;Patient-82 chr1:192964547-TG DeNovo Patient-82 intergenic NA 0.000513 0.61 10.35 0.48 TROVE2 64004 Reference T accaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaataga GCGCATTCTGAG CGACGCGGTCTCTCTCTaccaagagaatcaagggaatatgaaagatgtgtttgcatctaccaaactcTgaaattttaaactttcatttttacaacctctcaggtcaaaaggaatagaAGAGGGAGACGGACGTCTCAATAAgcgcattctgagAGATCGAGACCCGACGC chr1:192964547-Reference-T;Patient-82 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative G atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa AGCTCGATCAAG CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAagctcgatcaagAGATCGAGACCCGACGC chr1:193014680-Alternative-G;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative G atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa AAGTGAGCTAAC CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAaagtgagctaacAGATCGAGACCCGACGC chr1:193014680-Alternative-G;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative G atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CATTATATGCGC CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcattatatgcgcAGATCGAGACCCGACGC chr1:193014680-Alternative-G;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Reference T atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa ACCTTCCAAGAA CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAaccttccaagaaAGATCGAGACCCGACGC chr1:193014680-Reference-T;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative G atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa AAGTCAGGCCAT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAaagtcaggccatAGATCGAGACCCGACGC chr1:193014680-Alternative-G;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative C atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa AGTTACTCCGTT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAagttactccgttAGATCGAGACCCGACGC chr1:193014680-Alternative-C;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative C atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa GATCGTCTTCTA CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAgatcgtcttctaAGATCGAGACCCGACGC chr1:193014680-Alternative-C;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative C atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa ATCGCGGCCTTA CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAatcgcggccttaAGATCGAGACCCGACGC chr1:193014680-Alternative-C;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Reference T atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CGTATACTTGCT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcgtatacttgctAGATCGAGACCCGACGC chr1:193014680-Reference-T;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative C atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa ACGTTCGCAGGT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAacgttcgcaggtAGATCGAGACCCGACGC chr1:193014680-Alternative-C;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative C atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CTACGACAACAC CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccCgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAActacgacaacacAGATCGAGACCCGACGC chr1:193014680-Alternative-C;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Alternative G atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CAACGCATAACG CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccGgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcaacgcataacgAGATCGAGACCCGACGC chr1:193014680-Alternative-G;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Variant A atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa ACCTCGAGCGAA CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAacctcgagcgaaAGATCGAGACCCGACGC chr1:193014680-Variant-A;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Variant A atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa GTCGCGGTACTT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAgtcgcggtacttAGATCGAGACCCGACGC chr1:193014680-Variant-A;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Reference T atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CACGTCGATAAT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcacgtcgataatAGATCGAGACCCGACGC chr1:193014680-Reference-T;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Reference T atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa GCATTCTAGGCG CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAgcattctaggcgAGATCGAGACCCGACGC chr1:193014680-Reference-T;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Variant A atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CTGGTTCTGCAC CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAActggttctgcacAGATCGAGACCCGACGC chr1:193014680-Variant-A;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Variant A atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CAGGCGTGTCTT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcaggcgtgtcttAGATCGAGACCCGACGC chr1:193014680-Variant-A;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Variant A atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa AACTTGAAGACG CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccAgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAaacttgaagacgAGATCGAGACCCGACGC chr1:193014680-Variant-A;Patient-25 chr1:193014680-TA DeNovo Patient-25 intronic UCHL5 NA 4.95e-05 0.85 12.22 0.24 UCHL5 14556 Reference T atgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaa CAACGCTCGAGT CGACGCGGTCTCTCTCTatgtgagatgtctgttcctactttgcctaccaccatgagtaaaagcttccTgaggcctcccaagaagccgagcagatgccagcaccaggcttcctataaaAGAGGGAGACGGACGTCTCAATAAcaacgctcgagtAGATCGAGACCCGACGC chr1:193014680-Reference-T;Patient-25 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative G tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GCGGTCGAGTTA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAgcggtcgagttaAGATCGAGACCCGACGC chr1:193106567-Alternative-G;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative G tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttca ATTACGCCGGAG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAattacgccggagAGATCGAGACCCGACGC chr1:193106567-Alternative-G;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Variant T tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GAATGAAGACCT CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAgaatgaagacctAGATCGAGACCCGACGC chr1:193106567-Variant-T;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative G tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GGAGTATCATTC CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAggagtatcattcAGATCGAGACCCGACGC chr1:193106567-Alternative-G;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative G tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttca AGTCGTCCGAAG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAagtcgtccgaagAGATCGAGACCCGACGC chr1:193106567-Alternative-G;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Variant T tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttca AGCACCACGTGT CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAagcaccacgtgtAGATCGAGACCCGACGC chr1:193106567-Variant-T;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative G tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttca AAGGAGATGTGA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaGtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAaaggagatgtgaAGATCGAGACCCGACGC chr1:193106567-Alternative-G;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Variant T tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttca ATAAGCCGTGAA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAataagccgtgaaAGATCGAGACCCGACGC chr1:193106567-Variant-T;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Variant T tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GAATAACAGTCG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAgaataacagtcgAGATCGAGACCCGACGC chr1:193106567-Variant-T;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Variant T tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttca ATTGGATGCGCG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaTtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAattggatgcgcgAGATCGAGACCCGACGC chr1:193106567-Variant-T;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Reference C tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttca CTCAATACGCGG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAActcaatacgcggAGATCGAGACCCGACGC chr1:193106567-Reference-C;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative A tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GTTAAGGATCGA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAgttaaggatcgaAGATCGAGACCCGACGC chr1:193106567-Alternative-A;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative A tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GGATATACACAG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAggatatacacagAGATCGAGACCCGACGC chr1:193106567-Alternative-A;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative A tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttca CTCAATAGCACA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAActcaatagcacaAGATCGAGACCCGACGC chr1:193106567-Alternative-A;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Reference C tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttca GACGCCACTAGA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAgacgccactagaAGATCGAGACCCGACGC chr1:193106567-Reference-C;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative A tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttca AGGAGTCTAGAT CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAaggagtctagatAGATCGAGACCCGACGC chr1:193106567-Alternative-A;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Alternative A tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttca CGACTATAACGG CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaAtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAcgactataacggAGATCGAGACCCGACGC chr1:193106567-Alternative-A;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Reference C tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttca AAGTGCTTGGAA CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAaagtgcttggaaAGATCGAGACCCGACGC chr1:193106567-Reference-C;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Reference C tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttca ATCGATACACCT CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAatcgatacacctAGATCGAGACCCGACGC chr1:193106567-Reference-C;Patient-89 chr1:193106567-CT Inherited Patient-89 intronic CDC73 0.000223 0.000148 0.03 3.17 -1.2 CDC73 15478 Reference C tcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttca CGCATTCGTACC CGACGCGGTCTCTCTCTtcattgactctggtcctcagttttgttatttgttgaatgtggacattaaaCtggatcagggttaccagattttgttttgtttttaaccaacagcttttcaAGAGGGAGACGGACGTCTCAATAAcgcattcgtaccAGATCGAGACCCGACGC chr1:193106567-Reference-C;Patient-89 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative T atactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GATGAGTTACAC CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgatgagttacacAGATCGAGACCCGACGC chr1:193129615-Alternative-T;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Reference A atactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt CGTTAGGTATGT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAcgttaggtatgtAGATCGAGACCCGACGC chr1:193129615-Reference-A;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Reference A atactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt CTACGAATAACG CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAActacgaataacgAGATCGAGACCCGACGC chr1:193129615-Reference-A;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative T atactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GCGCATTGTCGA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgcgcattgtcgaAGATCGAGACCCGACGC chr1:193129615-Alternative-T;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Variant C atactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt ACTTCTACGCTT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAacttctacgcttAGATCGAGACCCGACGC chr1:193129615-Variant-C;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative T atactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt CTCTCTCAATCA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAActctctcaatcaAGATCGAGACCCGACGC chr1:193129615-Alternative-T;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Reference A atactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt CGGTATACTCTT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAcggtatactcttAGATCGAGACCCGACGC chr1:193129615-Reference-A;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Variant C atactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt AGCGCACGAGAA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAagcgcacgagaaAGATCGAGACCCGACGC chr1:193129615-Variant-C;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Reference A atactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt CGGTCAATTAAG CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAcggtcaattaagAGATCGAGACCCGACGC chr1:193129615-Reference-A;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Variant C atactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GGACTCGGTTGT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAggactcggttgtAGATCGAGACCCGACGC chr1:193129615-Variant-C;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Variant C atactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GTACGTTAGACA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgtacgttagacaAGATCGAGACCCGACGC chr1:193129615-Variant-C;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Reference A atactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GGCTGAGGTCTT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatAtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAggctgaggtcttAGATCGAGACCCGACGC chr1:193129615-Reference-A;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Variant C atactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GGCGGATTATTA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatCtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAggcggattattaAGATCGAGACCCGACGC chr1:193129615-Variant-C;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative T atactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt AACGCTGATCTT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAaacgctgatcttAGATCGAGACCCGACGC chr1:193129615-Alternative-T;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative G atactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt AGCGTGGTCGAA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAagcgtggtcgaaAGATCGAGACCCGACGC chr1:193129615-Alternative-G;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative G atactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GACTGTGTTAAG CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgactgtgttaagAGATCGAGACCCGACGC chr1:193129615-Alternative-G;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative G atactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GCGTCAGTGTGA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgcgtcagtgtgaAGATCGAGACCCGACGC chr1:193129615-Alternative-G;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative G atactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt AGCATAATAGCG CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAagcataatagcgAGATCGAGACCCGACGC chr1:193129615-Alternative-G;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative G atactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt GATTCTTGGCTT CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatGtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAgattcttggcttAGATCGAGACCCGACGC chr1:193129615-Alternative-G;Patient-42 chr1:193129615-AC DeNovo Patient-42 intronic CDC73 NA 9.69e-05 -0.47 0.11 -7.52 CDC73 38526 Alternative T atactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagtt ATCGCGCGTAGA CGACGCGGTCTCTCTCTatactatgaaacatagttttggttacatatattctcttatagtttagtatTtaatgctgtagttatagatgactttcagaattgcacaaagattttagttAGAGGGAGACGGACGTCTCAATAAatcgcgcgtagaAGATCGAGACCCGACGC chr1:193129615-Alternative-T;Patient-42 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative C aaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CGTTGTTCGCCA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAcgttgttcgccaAGATCGAGACCCGACGC chr1:193175586-Alternative-C;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative C aaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GCGGTTAAGGAC CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgcggttaaggacAGATCGAGACCCGACGC chr1:193175586-Alternative-C;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative C aaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt ACACCGCTTATT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAacaccgcttattAGATCGAGACCCGACGC chr1:193175586-Alternative-C;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative C aaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt ACCTTATCCTGA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAaccttatcctgaAGATCGAGACCCGACGC chr1:193175586-Alternative-C;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative C aaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CGTCGCATAACG CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgCatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAcgtcgcataacgAGATCGAGACCCGACGC chr1:193175586-Alternative-C;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Variant A aaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt AGCCGGCTCATA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAagccggctcataAGATCGAGACCCGACGC chr1:193175586-Variant-A;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Variant A aaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GACCATAGGCCA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgaccataggccaAGATCGAGACCCGACGC chr1:193175586-Variant-A;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Variant A aaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt AAGTTGTACGAG CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAaagttgtacgagAGATCGAGACCCGACGC chr1:193175586-Variant-A;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Variant A aaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GCACCAAGATAA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgcaccaagataaAGATCGAGACCCGACGC chr1:193175586-Variant-A;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Variant A aaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GGTTCAGATTCA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgAatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAggttcagattcaAGATCGAGACCCGACGC chr1:193175586-Variant-A;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative T aaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GTACCGTTGTGG CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgtaccgttgtggAGATCGAGACCCGACGC chr1:193175586-Alternative-T;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative T aaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CTAAGGCTCGAC CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAActaaggctcgacAGATCGAGACCCGACGC chr1:193175586-Alternative-T;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative T aaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt ATAACGCTGCAT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAataacgctgcatAGATCGAGACCCGACGC chr1:193175586-Alternative-T;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative T aaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GGCGAGTTCCTA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAggcgagttcctaAGATCGAGACCCGACGC chr1:193175586-Alternative-T;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Alternative T aaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GAATCGCAGCGT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgTatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgaatcgcagcgtAGATCGAGACCCGACGC chr1:193175586-Alternative-T;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Reference G aaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt GATCCTAGTGGT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAgatcctagtggtAGATCGAGACCCGACGC chr1:193175586-Reference-G;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Reference G aaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CTGGTGATTCAA CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAActggtgattcaaAGATCGAGACCCGACGC chr1:193175586-Reference-G;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Reference G aaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CGACGAGAATAT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAcgacgagaatatAGATCGAGACCCGACGC chr1:193175586-Reference-G;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Reference G aaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt ACATCATGGCTT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAAacatcatggcttAGATCGAGACCCGACGC chr1:193175586-Reference-G;Patient-30 chr1:193175586-GA Inherited Patient-30 intronic CDC73 0.000223 4.95e-05 NA NA NA CDC73 84497 Reference G aaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttatt CTAATGCGACTT CGACGCGGTCTCTCTCTaaataattaaggtttttgctctcattcagcaataagacttgattggaatgGatagtagtagtttgaagtctttatttgtcctaattagtgtatttttattAGAGGGAGACGGACGTCTCAATAActaatgcgacttAGATCGAGACCCGACGC chr1:193175586-Reference-G;Patient-30 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Reference C gttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CGCCAATAAGTC CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAcgccaataagtcAGATCGAGACCCGACGC chr1:193187499-Reference-C;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Reference C gttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ATCTGTTGGTTC CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAatctgttggttcAGATCGAGACCCGACGC chr1:193187499-Reference-C;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Reference C gttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CTCGTTGTTACA CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAActcgttgttacaAGATCGAGACCCGACGC chr1:193187499-Reference-C;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Reference C gttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CAGGTGGATAAT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAcaggtggataatAGATCGAGACCCGACGC chr1:193187499-Reference-C;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Reference C gttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc GGTAGCAAGATT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcCtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAggtagcaagattAGATCGAGACCCGACGC chr1:193187499-Reference-C;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Variant G gttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc AACGATCGGTGG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAaacgatcggtggAGATCGAGACCCGACGC chr1:193187499-Variant-G;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Variant G gttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ATCGGAATAACG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAatcggaataacgAGATCGAGACCCGACGC chr1:193187499-Variant-G;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative A gttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc AAGTGCGGAGCA CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAaagtgcggagcaAGATCGAGACCCGACGC chr1:193187499-Alternative-A;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Variant G gttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CATCTTGGTCAT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAcatcttggtcatAGATCGAGACCCGACGC chr1:193187499-Variant-G;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative T gttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ACAAGCGGTTCG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAacaagcggttcgAGATCGAGACCCGACGC chr1:193187499-Alternative-T;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Variant G gttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc AGGTGAGCTACC CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAaggtgagctaccAGATCGAGACCCGACGC chr1:193187499-Variant-G;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Variant G gttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc GACCTCTTAGTC CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcGtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAgacctcttagtcAGATCGAGACCCGACGC chr1:193187499-Variant-G;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative A gttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ACTAATAGCGAG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAactaatagcgagAGATCGAGACCCGACGC chr1:193187499-Alternative-A;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative A gttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ACCTTAGACACT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAaccttagacactAGATCGAGACCCGACGC chr1:193187499-Alternative-A;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative T gttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc AATCGTAGGCGG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAaatcgtaggcggAGATCGAGACCCGACGC chr1:193187499-Alternative-T;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative T gttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CTACGGCGAGTT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAActacggcgagttAGATCGAGACCCGACGC chr1:193187499-Alternative-T;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative A gttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc GTGTTCGGTGGT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAgtgttcggtggtAGATCGAGACCCGACGC chr1:193187499-Alternative-A;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative T gttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc CGATATCGCATT CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAcgatatcgcattAGATCGAGACCCGACGC chr1:193187499-Alternative-T;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative T gttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc GAGGTTGATCGG CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcTtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAgaggttgatcggAGATCGAGACCCGACGC chr1:193187499-Alternative-T;Patient-53 chr1:193187499-CG DeNovo Patient-53 intronic CDC73 NA 4.95e-05 0.04 3.22 0.23 CDC73 96410 Alternative A gttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattc ATAACACAGGAC CGACGCGGTCTCTCTCTgttaaagtggccataactgcccaaaacaacttacagattcactgctattcAtagcaaactaccagatttcatttttctcagaaattcgaacaaactattcAGAGGGAGACGGACGTCTCAATAAataacacaggacAGATCGAGACCCGACGC chr1:193187499-Alternative-A;Patient-53 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Reference G gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa GTACTGCCGAAG CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAgtactgccgaagAGATCGAGACCCGACGC chr1:198415303-Reference-G;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative T gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CGGATAGCATAT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAcggatagcatatAGATCGAGACCCGACGC chr1:198415303-Alternative-T;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative T gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CTCAAGTCGTCC CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAActcaagtcgtccAGATCGAGACCCGACGC chr1:198415303-Alternative-T;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Reference G gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa AACAGCAGTTCT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAaacagcagttctAGATCGAGACCCGACGC chr1:198415303-Reference-G;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative T gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa GGCGGACATAAC CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAggcggacataacAGATCGAGACCCGACGC chr1:198415303-Alternative-T;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Reference G gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa ATCTGGCTTGAT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAatctggcttgatAGATCGAGACCCGACGC chr1:198415303-Reference-G;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative T gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CTCATGGCTCGT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAActcatggctcgtAGATCGAGACCCGACGC chr1:198415303-Alternative-T;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Variant A gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CTGGCGAAGTAC CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAActggcgaagtacAGATCGAGACCCGACGC chr1:198415303-Variant-A;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Reference G gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa AGCGCATGTCGT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAagcgcatgtcgtAGATCGAGACCCGACGC chr1:198415303-Reference-G;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Reference G gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa AGAGCACGGCAT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaGaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAagagcacggcatAGATCGAGACCCGACGC chr1:198415303-Reference-G;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative T gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CGTGCTATGTAA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaTaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAcgtgctatgtaaAGATCGAGACCCGACGC chr1:198415303-Alternative-T;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Variant A gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa GACATTGAGTCA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAgacattgagtcaAGATCGAGACCCGACGC chr1:198415303-Variant-A;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative C gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa ATCGGCAACGCT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAatcggcaacgctAGATCGAGACCCGACGC chr1:198415303-Alternative-C;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Variant A gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa ACGCGATGTGCA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAacgcgatgtgcaAGATCGAGACCCGACGC chr1:198415303-Variant-A;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative C gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa GATAACAACGAC CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAgataacaacgacAGATCGAGACCCGACGC chr1:198415303-Alternative-C;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative C gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa AACTTCTTGCGA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAaacttcttgcgaAGATCGAGACCCGACGC chr1:198415303-Alternative-C;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative C gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa CGATCTGTCGCT CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAcgatctgtcgctAGATCGAGACCCGACGC chr1:198415303-Alternative-C;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Variant A gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa ACCGATGTCCGA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAaccgatgtccgaAGATCGAGACCCGACGC chr1:198415303-Variant-A;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Alternative C gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa ATTGACGAGTCA CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaCaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAattgacgagtcaAGATCGAGACCCGACGC chr1:198415303-Alternative-C;Patient-41 chr1:198415303-GA DeNovo Patient-41 intergenic NA 0.000513 0.21 5.97 2.69 ATP6V1G3 94771 Variant A gaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaa AAGAATGGCCGG CGACGCGGTCTCTCTCTgaatggatggagccatcctgacaatgtgagggaataaaggaagacgaggaAaaaaaagaaaaacaacattccatctgccttttttttgctcagttttaaaAGAGGGAGACGGACGTCTCAATAAaagaatggccggAGATCGAGACCCGACGC chr1:198415303-Variant-A;Patient-41 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Variant C ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CTACGTCTATCA CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAActacgtctatcaAGATCGAGACCCGACGC chr1:2002246-Variant-C;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Reference G ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc GATCGATATGCT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAgatcgatatgctAGATCGAGACCCGACGC chr1:2002246-Reference-G;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Reference G ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ACCGCCATTATA CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAaccgccattataAGATCGAGACCCGACGC chr1:2002246-Reference-G;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Reference G ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ACACGTGTAGTT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAacacgtgtagttAGATCGAGACCCGACGC chr1:2002246-Reference-G;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative T ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CTTAATGTGCAG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAActtaatgtgcagAGATCGAGACCCGACGC chr1:2002246-Alternative-T;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Reference G ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc AATCTGCCACTT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAaatctgccacttAGATCGAGACCCGACGC chr1:2002246-Reference-G;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative A ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CGGAATTCCTAT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAcggaattcctatAGATCGAGACCCGACGC chr1:2002246-Alternative-A;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative T ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ACGGCTAACATC CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAacggctaacatcAGATCGAGACCCGACGC chr1:2002246-Alternative-T;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative T ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CGATCTGGTACG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAcgatctggtacgAGATCGAGACCCGACGC chr1:2002246-Alternative-T;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative T ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ATCAACCTAACC CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAatcaacctaaccAGATCGAGACCCGACGC chr1:2002246-Alternative-T;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative T ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc GCAGGTTCGATA CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcTggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAgcaggttcgataAGATCGAGACCCGACGC chr1:2002246-Alternative-T;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative A ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ACAGGTAGATGG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAacaggtagatggAGATCGAGACCCGACGC chr1:2002246-Alternative-A;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Variant C ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CATGTGAGTACG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAcatgtgagtacgAGATCGAGACCCGACGC chr1:2002246-Variant-C;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative A ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ATCACGCGACGT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAatcacgcgacgtAGATCGAGACCCGACGC chr1:2002246-Alternative-A;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative A ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CTACAACGTCCT CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAActacaacgtcctAGATCGAGACCCGACGC chr1:2002246-Alternative-A;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Variant C ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc GCAGTGTACGAG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAgcagtgtacgagAGATCGAGACCCGACGC chr1:2002246-Variant-C;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Alternative A ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc AGGCACCGTCTA CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcAggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAaggcaccgtctaAGATCGAGACCCGACGC chr1:2002246-Alternative-A;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Reference G ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc CTATCTCCGTGG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcGggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAActatctccgtggAGATCGAGACCCGACGC chr1:2002246-Reference-G;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Variant C ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc GATAGCGTGATA CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAgatagcgtgataAGATCGAGACCCGACGC chr1:2002246-Variant-C;Patient-64 chr1:2002246-GC DeNovo Patient-64 intronic PRKCZ NA 4.95e-05 -0.47 0.11 -3.57 PRKCZ 20336 Variant C ctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggc ACCGTGTTAAGG CGACGCGGTCTCTCTCTctcagctgcaggggctggggtggggctggcgggggacagtcctcggctgcCggggccggggtgggccaggaaggggaaggggctcttgaggctccggggcAGAGGGAGACGGACGTCTCAATAAaccgtgttaaggAGATCGAGACCCGACGC chr1:2002246-Variant-C;Patient-64 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Variant G tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt ATCCTGATGTGA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAatcctgatgtgaAGATCGAGACCCGACGC chr1:2023097-Variant-G;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative T tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CAGCGCTGAGAA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAcagcgctgagaaAGATCGAGACCCGACGC chr1:2023097-Alternative-T;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Reference A tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CAGATTGTCGGC CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAcagattgtcggcAGATCGAGACCCGACGC chr1:2023097-Reference-A;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Reference A tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GCGCACACAATC CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAgcgcacacaatcAGATCGAGACCCGACGC chr1:2023097-Reference-A;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Reference A tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CTCGGTCCTGAT CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAActcggtcctgatAGATCGAGACCCGACGC chr1:2023097-Reference-A;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Variant G tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt AAGTTCGCGACG CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAaagttcgcgacgAGATCGAGACCCGACGC chr1:2023097-Variant-G;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative C tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt ACGAATGTACGC CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAacgaatgtacgcAGATCGAGACCCGACGC chr1:2023097-Alternative-C;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative C tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GGTGTACCGTCA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAggtgtaccgtcaAGATCGAGACCCGACGC chr1:2023097-Alternative-C;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative C tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GACGCTACTCGA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAgacgctactcgaAGATCGAGACCCGACGC chr1:2023097-Alternative-C;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative T tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CTAACCTAAGGT CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAActaacctaaggtAGATCGAGACCCGACGC chr1:2023097-Alternative-T;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Reference A tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CACGATCCGGAA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAcacgatccggaaAGATCGAGACCCGACGC chr1:2023097-Reference-A;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative T tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt AGGTGTTGTCAT CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAaggtgttgtcatAGATCGAGACCCGACGC chr1:2023097-Alternative-T;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Reference A tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt AGCCGGTCCATA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggAgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAagccggtccataAGATCGAGACCCGACGC chr1:2023097-Reference-A;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative T tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GCCTTCCAAGCA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAgccttccaagcaAGATCGAGACCCGACGC chr1:2023097-Alternative-T;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative C tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt ATCCGGCGGTAA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAatccggcggtaaAGATCGAGACCCGACGC chr1:2023097-Alternative-C;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative C tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GTCGTTGATAGT CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggCgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAgtcgttgatagtAGATCGAGACCCGACGC chr1:2023097-Alternative-C;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Alternative T tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt CAGTAAGGCGAC CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggTgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAcagtaaggcgacAGATCGAGACCCGACGC chr1:2023097-Alternative-T;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Variant G tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt ACGTTCGATCAA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAacgttcgatcaaAGATCGAGACCCGACGC chr1:2023097-Variant-G;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Variant G tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt AGGCAAGCCAAT CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAaggcaagccaatAGATCGAGACCCGACGC chr1:2023097-Variant-G;Patient-19 chr1:2023097-AG DeNovo Patient-19 intronic PRKCZ NA 4.95e-05 0.19 5.67 0.89 PRKCZ 41187 Variant G tggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgtt GGAAGACCATGA CGACGCGGTCTCTCTCTtggtgatgttgagcctctcacgcctgtggccgcttgtgtgtcggctttggGgaaacgtctgcacaggtcctttgcccgttttgtaattgagttcctcgttAGAGGGAGACGGACGTCTCAATAAggaagaccatgaAGATCGAGACCCGACGC chr1:2023097-Variant-G;Patient-19 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Reference T tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat CGTCCTGATGAG CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAcgtcctgatgagAGATCGAGACCCGACGC chr1:202351561-Reference-T;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Reference T tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AGCTCGGTAGTC CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAagctcggtagtcAGATCGAGACCCGACGC chr1:202351561-Reference-T;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Reference T tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat CATAGACGAACT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAcatagacgaactAGATCGAGACCCGACGC chr1:202351561-Reference-T;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative C tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GAATAAGGACGA CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAgaataaggacgaAGATCGAGACCCGACGC chr1:202351561-Alternative-C;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Variant A tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GCATCGCGAATC CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAgcatcgcgaatcAGATCGAGACCCGACGC chr1:202351561-Variant-A;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Variant A tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AGTTGGCCGAAC CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAagttggccgaacAGATCGAGACCCGACGC chr1:202351561-Variant-A;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Variant A tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AGCATCTAACGA CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAagcatctaacgaAGATCGAGACCCGACGC chr1:202351561-Variant-A;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative C tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AGCAGTTGTGTT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAagcagttgtgttAGATCGAGACCCGACGC chr1:202351561-Alternative-C;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Reference T tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat CGTTGAGAAGAT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAcgttgagaagatAGATCGAGACCCGACGC chr1:202351561-Reference-T;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative G tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AACAGGACGTCG CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAaacaggacgtcgAGATCGAGACCCGACGC chr1:202351561-Alternative-G;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Variant A tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat ATCGAGTAACCG CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAatcgagtaaccgAGATCGAGACCCGACGC chr1:202351561-Variant-A;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative C tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GTATTGCGCGCT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAgtattgcgcgctAGATCGAGACCCGACGC chr1:202351561-Alternative-C;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative C tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GCGATCGCAGAA CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAgcgatcgcagaaAGATCGAGACCCGACGC chr1:202351561-Alternative-C;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Reference T tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat ACCAACAACGGT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataTatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAaccaacaacggtAGATCGAGACCCGACGC chr1:202351561-Reference-T;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Variant A tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat CTTGTAAGCCTT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataAatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAActtgtaagccttAGATCGAGACCCGACGC chr1:202351561-Variant-A;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative G tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat CATATATGCGCT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAcatatatgcgctAGATCGAGACCCGACGC chr1:202351561-Alternative-G;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative G tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat AGCGGCTATCCT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAagcggctatcctAGATCGAGACCCGACGC chr1:202351561-Alternative-G;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative G tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GAGTCCGTCTTC CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAgagtccgtcttcAGATCGAGACCCGACGC chr1:202351561-Alternative-G;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative C tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat GGCGCTGCATAT CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataCatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAggcgctgcatatAGATCGAGACCCGACGC chr1:202351561-Alternative-C;Patient-80 chr1:202351561-TA DeNovo Patient-80 intronic PPP1R12B 0.000365 0.000142086 -0.05 1.91 0.26 PPP1R12B 33730 Alternative G tgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaat ACGCTTAGTAAC CGACGCGGTCTCTCTCTtgcacgttgtgcacatgtaccctagaacttaaagtataataaaaaaaataGatatataaaagaaaaagaaaaaaacccactttatttaaaaaataaaaatAGAGGGAGACGGACGTCTCAATAAacgcttagtaacAGATCGAGACCCGACGC chr1:202351561-Alternative-G;Patient-80 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Variant A cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa AGCTCGATTCGG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAagctcgattcggAGATCGAGACCCGACGC chr1:202669592-Variant-A;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Reference G cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GCCGTCAATTGA CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAgccgtcaattgaAGATCGAGACCCGACGC chr1:202669592-Reference-G;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative C cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CATTGTACTCGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcattgtactcgtAGATCGAGACCCGACGC chr1:202669592-Alternative-C;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative C cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GAGTACGGATGC CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAgagtacggatgcAGATCGAGACCCGACGC chr1:202669592-Alternative-C;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Reference G cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GGAATTGTTCGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAggaattgttcgtAGATCGAGACCCGACGC chr1:202669592-Reference-G;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Reference G cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa AACGGTAGAACG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAaacggtagaacgAGATCGAGACCCGACGC chr1:202669592-Reference-G;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Reference G cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa AATCGGAGAACT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAaatcggagaactAGATCGAGACCCGACGC chr1:202669592-Reference-G;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative T cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CGTAACCAAGCG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcgtaaccaagcgAGATCGAGACCCGACGC chr1:202669592-Alternative-T;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative T cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CAAGTTCGCGGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcaagttcgcggtAGATCGAGACCCGACGC chr1:202669592-Alternative-T;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative C cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CAACGTCCGCTA CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcaacgtccgctaAGATCGAGACCCGACGC chr1:202669592-Alternative-C;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative C cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa AACTCAATTCGG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAaactcaattcggAGATCGAGACCCGACGC chr1:202669592-Alternative-C;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative T cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GGATATAGTGGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAggatatagtggtAGATCGAGACCCGACGC chr1:202669592-Alternative-T;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Reference G cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GGACATTAGGCG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaGagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAggacattaggcgAGATCGAGACCCGACGC chr1:202669592-Reference-G;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative T cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CGAAGCCAAGCA CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcgaagccaagcaAGATCGAGACCCGACGC chr1:202669592-Alternative-T;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative C cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GTCGTTGTTAAG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaCagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAgtcgttgttaagAGATCGAGACCCGACGC chr1:202669592-Alternative-C;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Alternative T cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa AATATGCCGTGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaTagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAaatatgccgtgtAGATCGAGACCCGACGC chr1:202669592-Alternative-T;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Variant A cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GCGGTTCAAGGT CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAgcggttcaaggtAGATCGAGACCCGACGC chr1:202669592-Variant-A;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Variant A cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GGCGATACTAAC CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAggcgatactaacAGATCGAGACCCGACGC chr1:202669592-Variant-A;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Variant A cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa CAGCTTCGTTCG CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAcagcttcgttcgAGATCGAGACCCGACGC chr1:202669592-Variant-A;Patient-104 chr1:202669592-GA DeNovo Patient-104 intronic SYT2 0.000669 3.91e-05 -0.39 0.19 -3.91 SYT2 9958 Variant A cagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaa GCGACCTACTTC CGACGCGGTCTCTCTCTcagttctcaaaccttttggttctaagacccgtttattgaggaccctccaaAagcgttttcttatgtaagttagatccatccatagttaccatattcaaaaAGAGGGAGACGGACGTCTCAATAAgcgacctacttcAGATCGAGACCCGACGC chr1:202669592-Variant-A;Patient-104 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Variant A cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt CTGGTAATTCGA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAActggtaattcgaAGATCGAGACCCGACGC chr1:203100098-Variant-A;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Variant A cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt AGCAGGTCGGAT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAagcaggtcggatAGATCGAGACCCGACGC chr1:203100098-Variant-A;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Variant A cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GCGGCTATTCCT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgcggctattcctAGATCGAGACCCGACGC chr1:203100098-Variant-A;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Reference C cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GTGTTAATGCCT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgtgttaatgcctAGATCGAGACCCGACGC chr1:203100098-Reference-C;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Variant A cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt CATCAAGCGTAT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAcatcaagcgtatAGATCGAGACCCGACGC chr1:203100098-Variant-A;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Variant A cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt CAGATGCTACCA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagAtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAcagatgctaccaAGATCGAGACCCGACGC chr1:203100098-Variant-A;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative T cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GGATAGTAGTGT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAggatagtagtgtAGATCGAGACCCGACGC chr1:203100098-Alternative-T;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative G cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt ACTCACCGGCTA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAactcaccggctaAGATCGAGACCCGACGC chr1:203100098-Alternative-G;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Reference C cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GAGTTAACCAAC CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgagttaaccaacAGATCGAGACCCGACGC chr1:203100098-Reference-C;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Reference C cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GGTTCTGCAATA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAggttctgcaataAGATCGAGACCCGACGC chr1:203100098-Reference-C;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Reference C cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GACGCTCAACCA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgacgctcaaccaAGATCGAGACCCGACGC chr1:203100098-Reference-C;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative G cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt AAGGTAGGTACT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAaaggtaggtactAGATCGAGACCCGACGC chr1:203100098-Alternative-G;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative G cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt ATCTGTGAGGTT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAatctgtgaggttAGATCGAGACCCGACGC chr1:203100098-Alternative-G;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative G cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt ATTCGAACGCTT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAattcgaacgcttAGATCGAGACCCGACGC chr1:203100098-Alternative-G;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative G cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt AGACCGTTATGT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagGtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAagaccgttatgtAGATCGAGACCCGACGC chr1:203100098-Alternative-G;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Reference C cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GTAACGGAACTA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagCtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgtaacggaactaAGATCGAGACCCGACGC chr1:203100098-Reference-C;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative T cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt GTAGCGGACATA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAgtagcggacataAGATCGAGACCCGACGC chr1:203100098-Alternative-T;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative T cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt CGATACGCGCTA CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAcgatacgcgctaAGATCGAGACCCGACGC chr1:203100098-Alternative-T;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative T cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt CTCTCAATCCGC CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAActctcaatccgcAGATCGAGACCCGACGC chr1:203100098-Alternative-T;Patient-54 chr1:203100098-CA Inherited Patient-54 intronic ADORA1 6.4e-05 0.000198 0.7 11.1 3.89 ADORA1 3261 Alternative T cacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgt AATGCCTAACCT CGACGCGGTCTCTCTCTcacagaggctgccatgggcctgagttcaaatccttgctgggaatttctagTtgtgcaaaagtcacttacctaaccgctttaagctttaatgtccttatgtAGAGGGAGACGGACGTCTCAATAAaatgcctaacctAGATCGAGACCCGACGC chr1:203100098-Alternative-T;Patient-54 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Reference G gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct AGTAGCCTAAGA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAagtagcctaagaAGATCGAGACCCGACGC chr1:203256822-Reference-G;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Reference G gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CTGTGCGCTAAC CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAActgtgcgctaacAGATCGAGACCCGACGC chr1:203256822-Reference-G;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Reference G gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GAGTATTCCGCG CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAgagtattccgcgAGATCGAGACCCGACGC chr1:203256822-Reference-G;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative T gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CTCTCTCTTGAT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAActctctcttgatAGATCGAGACCCGACGC chr1:203256822-Alternative-T;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative T gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CATAGGTATCCA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAcataggtatccaAGATCGAGACCCGACGC chr1:203256822-Alternative-T;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Reference G gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CGTTGTACGACG CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAcgttgtacgacgAGATCGAGACCCGACGC chr1:203256822-Reference-G;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative T gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct AGAGCTCACATC CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAagagctcacatcAGATCGAGACCCGACGC chr1:203256822-Alternative-T;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Variant A gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct AGCGGACCTAAT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAagcggacctaatAGATCGAGACCCGACGC chr1:203256822-Variant-A;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Variant A gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct AGGCGTGAACAT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAaggcgtgaacatAGATCGAGACCCGACGC chr1:203256822-Variant-A;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative C gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GTGCCGATCTAC CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAgtgccgatctacAGATCGAGACCCGACGC chr1:203256822-Alternative-C;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Reference G gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CGACGGTTATTA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaGgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAcgacggttattaAGATCGAGACCCGACGC chr1:203256822-Reference-G;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative T gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct ACGCGAGGATCA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAacgcgaggatcaAGATCGAGACCCGACGC chr1:203256822-Alternative-T;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative T gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CGTCGTTCGTCA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaTgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAcgtcgttcgtcaAGATCGAGACCCGACGC chr1:203256822-Alternative-T;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative C gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GGTCGGCTTCTT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAggtcggcttcttAGATCGAGACCCGACGC chr1:203256822-Alternative-C;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Variant A gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GGCACGCTCAAT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAggcacgctcaatAGATCGAGACCCGACGC chr1:203256822-Variant-A;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative C gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GGCTCAAGTTCG CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAggctcaagttcgAGATCGAGACCCGACGC chr1:203256822-Alternative-C;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Variant A gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct AATGCGACGGAG CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAaatgcgacggagAGATCGAGACCCGACGC chr1:203256822-Variant-A;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Variant A gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GACATCAAGTCA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaAgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAgacatcaagtcaAGATCGAGACCCGACGC chr1:203256822-Variant-A;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative C gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct CACAACACAGCT CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAcacaacacagctAGATCGAGACCCGACGC chr1:203256822-Alternative-C;Patient-49 chr1:203256822-GA DeNovo Patient-49 intergenic NA 0.00016 1.03 13.49 -1.79 FMOD 63734 Alternative C gggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggct GCCTTGTTATGA CGACGCGGTCTCTCTCTgggttttaggttagtgccctggctgtgatgaagtggaacttgttacccaaCgacttcccttttaggcagaatgtctgctttcctaccaggaagagtggctAGAGGGAGACGGACGTCTCAATAAgccttgttatgaAGATCGAGACCCGACGC chr1:203256822-Alternative-C;Patient-49 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Variant T gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CAGTAGCGATAA CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAcagtagcgataaAGATCGAGACCCGACGC chr1:203266501-Variant-T;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Reference G gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctca GGTAATGAGGTT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAggtaatgaggttAGATCGAGACCCGACGC chr1:203266501-Reference-G;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Reference G gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctca GGATCGTGTCAC CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAggatcgtgtcacAGATCGAGACCCGACGC chr1:203266501-Reference-G;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Variant T gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CACGGCGATAAC CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAcacggcgataacAGATCGAGACCCGACGC chr1:203266501-Variant-T;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative A gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CATGACGACATC CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAcatgacgacatcAGATCGAGACCCGACGC chr1:203266501-Alternative-A;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Variant T gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctca AATCGTAGCAAG CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAaatcgtagcaagAGATCGAGACCCGACGC chr1:203266501-Variant-T;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative C gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctca ACGTCGGACAGT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAacgtcggacagtAGATCGAGACCCGACGC chr1:203266501-Alternative-C;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Reference G gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CTACCGCATAAT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAActaccgcataatAGATCGAGACCCGACGC chr1:203266501-Reference-G;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative A gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctca ACGCGAACCGTT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAacgcgaaccgttAGATCGAGACCCGACGC chr1:203266501-Alternative-A;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Variant T gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctca GCGTCCATACGT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAgcgtccatacgtAGATCGAGACCCGACGC chr1:203266501-Variant-T;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative C gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctca AGCAACGATTCT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAagcaacgattctAGATCGAGACCCGACGC chr1:203266501-Alternative-C;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative A gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctca ACGCGAGGTACT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAacgcgaggtactAGATCGAGACCCGACGC chr1:203266501-Alternative-A;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Variant T gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctca AGTCGGAATAAC CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctTccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAagtcggaataacAGATCGAGACCCGACGC chr1:203266501-Variant-T;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative C gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctca AGCGGCATGTTC CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAagcggcatgttcAGATCGAGACCCGACGC chr1:203266501-Alternative-C;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Reference G gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctca GATGGCGGTGTT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAgatggcggtgttAGATCGAGACCCGACGC chr1:203266501-Reference-G;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative C gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctca GACTAGGCGAAG CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAgactaggcgaagAGATCGAGACCCGACGC chr1:203266501-Alternative-C;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative C gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctca AGTCTATCGCGG CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctCccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAagtctatcgcggAGATCGAGACCCGACGC chr1:203266501-Alternative-C;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative A gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CTGAACGTGATT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAActgaacgtgattAGATCGAGACCCGACGC chr1:203266501-Alternative-A;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Reference G gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CAGTCCGAATCA CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctGccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAAcagtccgaatcaAGATCGAGACCCGACGC chr1:203266501-Reference-G;Patient-9 chr1:203266501-GT DeNovo Patient-9 intergenic NA 0.000513 -0.37 0.23 -4.47 FMOD 54055 Alternative A gaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctca CTTATCGCCGGT CGACGCGGTCTCTCTCTgaatgaggcagtggggaccaatgtgtcttgctctatgttagcctttccctAccatcattcctcatgcctttctccgaagttcatttatcccactgtctcaAGAGGGAGACGGACGTCTCAATAActtatcgccggtAGATCGAGACCCGACGC chr1:203266501-Alternative-A;Patient-9 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative T tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GAATTATCGCCA CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAgaattatcgccaAGATCGAGACCCGACGC chr1:203750261-Alternative-T;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative T tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa AAGTGTCGTACT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAaagtgtcgtactAGATCGAGACCCGACGC chr1:203750261-Alternative-T;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Variant A tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa AATGCGACGTGG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAaatgcgacgtggAGATCGAGACCCGACGC chr1:203750261-Variant-A;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Reference G tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa AGCACGGCGTTA CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAagcacggcgttaAGATCGAGACCCGACGC chr1:203750261-Reference-G;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Variant A tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GTAAGCGTACAG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAgtaagcgtacagAGATCGAGACCCGACGC chr1:203750261-Variant-A;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative T tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa ATTCGATCAACG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAattcgatcaacgAGATCGAGACCCGACGC chr1:203750261-Alternative-T;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative T tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa AAGTGCGGCTGT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAaagtgcggctgtAGATCGAGACCCGACGC chr1:203750261-Alternative-T;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Variant A tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GGAGGACACCTA CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAggaggacacctaAGATCGAGACCCGACGC chr1:203750261-Variant-A;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative T tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GTGTTACGTGCG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcTgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAgtgttacgtgcgAGATCGAGACCCGACGC chr1:203750261-Alternative-T;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative C tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CTAAGTGAGCTT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAActaagtgagcttAGATCGAGACCCGACGC chr1:203750261-Alternative-C;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative C tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CATGTCAAGCGG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAcatgtcaagcggAGATCGAGACCCGACGC chr1:203750261-Alternative-C;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Reference G tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GTGTTCACGTGG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAgtgttcacgtggAGATCGAGACCCGACGC chr1:203750261-Reference-G;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Reference G tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CAGGATAGAACG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAcaggatagaacgAGATCGAGACCCGACGC chr1:203750261-Reference-G;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative C tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CGCGTCATAATA CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAcgcgtcataataAGATCGAGACCCGACGC chr1:203750261-Alternative-C;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative C tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CAGTATCAAGCT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAcagtatcaagctAGATCGAGACCCGACGC chr1:203750261-Alternative-C;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Reference G tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GTGAATGACGCG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAgtgaatgacgcgAGATCGAGACCCGACGC chr1:203750261-Reference-G;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Variant A tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CTATCAGGAACG CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAActatcaggaacgAGATCGAGACCCGACGC chr1:203750261-Variant-A;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Reference G tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa GGCAAGTAAGTT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcGgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAggcaagtaagttAGATCGAGACCCGACGC chr1:203750261-Reference-G;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Alternative C tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa CAGCACGGTATC CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcCgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAcagcacggtatcAGATCGAGACCCGACGC chr1:203750261-Alternative-C;Patient-78 chr1:203750261-GA Inherited Patient-78 intergenic 0.000229 0.00103 -0.16 0.97 0 SNRPE 80478 Variant A tcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaa AGGTTGTGACTT CGACGCGGTCTCTCTCTtcgggaggctgaggtaggagaatcgcttgaacctgggaggcggaggatgcAgtgagccaagatcacgcccttgaactccagcctgggcaacaagagtaaaAGAGGGAGACGGACGTCTCAATAAaggttgtgacttAGATCGAGACCCGACGC chr1:203750261-Variant-A;Patient-78 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Reference C gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc ATACCACGCGGT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAataccacgcggtAGATCGAGACCCGACGC chr1:204559808-Reference-C;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative A gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc ATCGCGACATTC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAatcgcgacattcAGATCGAGACCCGACGC chr1:204559808-Alternative-A;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Reference C gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc CAGGTACGACGT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAcaggtacgacgtAGATCGAGACCCGACGC chr1:204559808-Reference-C;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Reference C gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GGCTTATCGACG CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAggcttatcgacgAGATCGAGACCCGACGC chr1:204559808-Reference-C;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative A gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AATGGAAGACGC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAaatggaagacgcAGATCGAGACCCGACGC chr1:204559808-Alternative-A;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative G gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc CTCGCTGCGTAA CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAActcgctgcgtaaAGATCGAGACCCGACGC chr1:204559808-Alternative-G;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Variant T gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AACGTCGCCAGT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAaacgtcgccagtAGATCGAGACCCGACGC chr1:204559808-Variant-T;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative A gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc ACAGGCTAATCA CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAacaggctaatcaAGATCGAGACCCGACGC chr1:204559808-Alternative-A;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative G gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AAGGTGGTATAC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAaaggtggtatacAGATCGAGACCCGACGC chr1:204559808-Alternative-G;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative G gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GTCGTGGTATGC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAgtcgtggtatgcAGATCGAGACCCGACGC chr1:204559808-Alternative-G;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Variant T gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc CAAGATGCAAGT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAcaagatgcaagtAGATCGAGACCCGACGC chr1:204559808-Variant-T;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Reference C gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GACGTTAGCCGT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAgacgttagccgtAGATCGAGACCCGACGC chr1:204559808-Reference-C;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative A gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GCCGACGAGATA CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAgccgacgagataAGATCGAGACCCGACGC chr1:204559808-Alternative-A;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Variant T gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GATGCTGACGCT CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAgatgctgacgctAGATCGAGACCCGACGC chr1:204559808-Variant-T;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative G gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc GCATCAAGTGAA CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAgcatcaagtgaaAGATCGAGACCCGACGC chr1:204559808-Alternative-G;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Reference C gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AGCTGACTACAC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctCctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAagctgactacacAGATCGAGACCCGACGC chr1:204559808-Reference-C;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative G gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc ACTTGATCCAAC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctGctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAacttgatccaacAGATCGAGACCCGACGC chr1:204559808-Alternative-G;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Variant T gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc ATTACGATCGAC CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAattacgatcgacAGATCGAGACCCGACGC chr1:204559808-Variant-T;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Variant T gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AACGAAGGTTCA CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctTctgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAaacgaaggttcaAGATCGAGACCCGACGC chr1:204559808-Variant-T;Patient-34 chr1:204559808-CT Inherited Patient-34 intergenic 3.2e-05 0.000513 -0.07 1.67 0.24 MDM4 74300 Alternative A gcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgc AACGACTCGGAG CGACGCGGTCTCTCTCTgcacaatctcggctcactgcaacctccgcctccccagttcaagcaattctActgcctcagcctcccgagtagctgggattacaggtgcacaccaccatgcAGAGGGAGACGGACGTCTCAATAAaacgactcggagAGATCGAGACCCGACGC chr1:204559808-Alternative-A;Patient-34 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Reference G gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GGATGATCCGGT CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAggatgatccggtAGATCGAGACCCGACGC chr1:204972625-Reference-G;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Reference G gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AATGATGAGTCG CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAaatgatgagtcgAGATCGAGACCCGACGC chr1:204972625-Reference-G;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Variant A gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GACCTAGGTTAT CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAgacctaggttatAGATCGAGACCCGACGC chr1:204972625-Variant-A;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Reference G gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AGGTACGTGAAC CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAaggtacgtgaacAGATCGAGACCCGACGC chr1:204972625-Reference-G;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Variant A gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GCAACGTAACTA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAgcaacgtaactaAGATCGAGACCCGACGC chr1:204972625-Variant-A;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative T gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GCAACTGCTCGA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAgcaactgctcgaAGATCGAGACCCGACGC chr1:204972625-Alternative-T;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Variant A gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GCGGTAACGTGA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAgcggtaacgtgaAGATCGAGACCCGACGC chr1:204972625-Variant-A;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative T gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcag ATTGTCCGTCTA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAattgtccgtctaAGATCGAGACCCGACGC chr1:204972625-Alternative-T;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative C gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcag CTACGGAACTAA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAActacggaactaaAGATCGAGACCCGACGC chr1:204972625-Alternative-C;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative C gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcag CAAGCTATGGTT CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAcaagctatggttAGATCGAGACCCGACGC chr1:204972625-Alternative-C;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative T gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GGTACGGTTGTC CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAggtacggttgtcAGATCGAGACCCGACGC chr1:204972625-Alternative-T;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative T gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcag ACACATTACGGC CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAacacattacggcAGATCGAGACCCGACGC chr1:204972625-Alternative-T;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative T gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GGAACGTCTGCT CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgTatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAggaacgtctgctAGATCGAGACCCGACGC chr1:204972625-Alternative-T;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative C gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcag CGCATTCGGCAA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAcgcattcggcaaAGATCGAGACCCGACGC chr1:204972625-Alternative-C;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative C gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcag GGCTAATGCTAT CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAggctaatgctatAGATCGAGACCCGACGC chr1:204972625-Alternative-C;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Alternative C gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AACAGGCGATTA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgCatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAaacaggcgattaAGATCGAGACCCGACGC chr1:204972625-Alternative-C;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Variant A gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AAGTTGAGGACG CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAaagttgaggacgAGATCGAGACCCGACGC chr1:204972625-Variant-A;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Variant A gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AGCAGGACGAGA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgAatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAagcaggacgagaAGATCGAGACCCGACGC chr1:204972625-Variant-A;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Reference G gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcag AGGACCTCGAAC CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAaggacctcgaacAGATCGAGACCCGACGC chr1:204972625-Reference-G;Patient-85 chr1:204972625-GA Inherited Patient-85 intronic NFASC NA 4.95e-05 0.06 3.63 -2.23 CNTN2 39714 Reference G gggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcag CGACGATTGTTA CGACGCGGTCTCTCTCTgggtacaaggttcagcaatctctgtgctagtaggggtagctggcagtctgGatacttacagggcactccctggtctgagtgagtgtagctttaaactcagAGAGGGAGACGGACGTCTCAATAAcgacgattgttaAGATCGAGACCCGACGC chr1:204972625-Reference-G;Patient-85 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative C cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CTGCGTCGTACT CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAActgcgtcgtactAGATCGAGACCCGACGC chr1:205081586-Alternative-C;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative C cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccact ATACCGCACGAG CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAataccgcacgagAGATCGAGACCCGACGC chr1:205081586-Alternative-C;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative C cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CTTACGCTGACC CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAActtacgctgaccAGATCGAGACCCGACGC chr1:205081586-Alternative-C;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative C cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CGAACACGTGCT CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcgaacacgtgctAGATCGAGACCCGACGC chr1:205081586-Alternative-C;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative C cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CTAGCGATGTAA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagCacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAActagcgatgtaaAGATCGAGACCCGACGC chr1:205081586-Alternative-C;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative A cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CGGCAAGTATAA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcggcaagtataaAGATCGAGACCCGACGC chr1:205081586-Alternative-A;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative A cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CTTGGTATGCCG CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAActtggtatgccgAGATCGAGACCCGACGC chr1:205081586-Alternative-A;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative A cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccact ACGCGCACTTGT CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAacgcgcacttgtAGATCGAGACCCGACGC chr1:205081586-Alternative-A;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative A cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccact GATATGACCATC CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAgatatgaccatcAGATCGAGACCCGACGC chr1:205081586-Alternative-A;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Variant T cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccact GTGCCTCTTGGT CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAgtgcctcttggtAGATCGAGACCCGACGC chr1:205081586-Variant-T;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Variant T cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CTCAAGTTCGCG CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAActcaagttcgcgAGATCGAGACCCGACGC chr1:205081586-Variant-T;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Reference G cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CAACGGCATTAA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcaacggcattaaAGATCGAGACCCGACGC chr1:205081586-Reference-G;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Variant T cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccact GATTCACGAGAA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAgattcacgagaaAGATCGAGACCCGACGC chr1:205081586-Variant-T;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Variant T cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccact AGCTGGTAACGG CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAagctggtaacggAGATCGAGACCCGACGC chr1:205081586-Variant-T;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Alternative A cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CGTACATAGCAT CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagAacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcgtacatagcatAGATCGAGACCCGACGC chr1:205081586-Alternative-A;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Reference G cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccact ATCGCACGTCGA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAatcgcacgtcgaAGATCGAGACCCGACGC chr1:205081586-Reference-G;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Variant T cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CAACTAGCTAGA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagTacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcaactagctagaAGATCGAGACCCGACGC chr1:205081586-Variant-T;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Reference G cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CGAATAACACGA CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcgaataacacgaAGATCGAGACCCGACGC chr1:205081586-Reference-G;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Reference G cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccact CGTATACTTGTC CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAcgtatacttgtcAGATCGAGACCCGACGC chr1:205081586-Reference-G;Patient-55 chr1:205081586-GT DeNovo Patient-55 intronic RBBP5 NA 4.95e-05 -0.17 0.87 -0.23 RBBP5 9563 Reference G cttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccact ATCCTCTCGTGG CGACGCGGTCTCTCTCTcttctttgtgctttcatctccactaaatcttaaatatagttcttgtatagGacatataaagctttagtatatgtacctgtatgcaaatccacctcccactAGAGGGAGACGGACGTCTCAATAAatcctctcgtggAGATCGAGACCCGACGC chr1:205081586-Reference-G;Patient-55 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Reference G ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg ACGTTGGATCTA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAacgttggatctaAGATCGAGACCCGACGC chr1:208438828-Reference-G;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative C ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GTCGTAGTTAAC CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgtcgtagttaacAGATCGAGACCCGACGC chr1:208438828-Alternative-C;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Variant T ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GCAGTGATGACG CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgcagtgatgacgAGATCGAGACCCGACGC chr1:208438828-Variant-T;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative C ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTTAGGCCGAAT CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActtaggccgaatAGATCGAGACCCGACGC chr1:208438828-Alternative-C;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative C ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg AGTCGTTATGCA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAagtcgttatgcaAGATCGAGACCCGACGC chr1:208438828-Alternative-C;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative A ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg AGGCGGATAGTC CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAaggcggatagtcAGATCGAGACCCGACGC chr1:208438828-Alternative-A;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative C ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GTGTTACGATCA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgtgttacgatcaAGATCGAGACCCGACGC chr1:208438828-Alternative-C;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Variant T ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GTCATACGGCAG CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgtcatacggcagAGATCGAGACCCGACGC chr1:208438828-Variant-T;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Variant T ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GAATTGAGGTGT CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgaattgaggtgtAGATCGAGACCCGACGC chr1:208438828-Variant-T;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Variant T ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GCATCGTCAACG CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgcatcgtcaacgAGATCGAGACCCGACGC chr1:208438828-Variant-T;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Reference G ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GTAGTAGCGTGG CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgtagtagcgtggAGATCGAGACCCGACGC chr1:208438828-Reference-G;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Reference G ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTTGTTGCGGAC CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActtgttgcggacAGATCGAGACCCGACGC chr1:208438828-Reference-G;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Reference G ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTCTCAACGCGA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActctcaacgcgaAGATCGAGACCCGACGC chr1:208438828-Reference-G;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative C ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg ATAGGCCTAGAA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctCcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAataggcctagaaAGATCGAGACCCGACGC chr1:208438828-Alternative-C;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative A ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GAGGTTGAACTA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAgaggttgaactaAGATCGAGACCCGACGC chr1:208438828-Alternative-A;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative A ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CGGCGACTTCAA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAcggcgacttcaaAGATCGAGACCCGACGC chr1:208438828-Alternative-A;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative A ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTCATCTTACGA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActcatcttacgaAGATCGAGACCCGACGC chr1:208438828-Alternative-A;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Alternative A ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTCGCTGTTGGT CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctAcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActcgctgttggtAGATCGAGACCCGACGC chr1:208438828-Alternative-A;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Reference G ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg CTATACGCAGCA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctGcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAActatacgcagcaAGATCGAGACCCGACGC chr1:208438828-Reference-G;Patient-32 chr1:208438828-GT DeNovo Patient-32 intergenic NA 0.000512821 0.05 3.42 1.63 PLXNA2 21162 Variant T ttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtg GGACGTGAATTA CGACGCGGTCTCTCTCTttttatttttttgtcttaattttcaaacagctgcatttggctcagcagctTcatgtggccctgcacccacccaggcccctatctccttcaaaaagccgtgAGAGGGAGACGGACGTCTCAATAAggacgtgaattaAGATCGAGACCCGACGC chr1:208438828-Variant-T;Patient-32 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Variant C aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CTCTCAAGGACG CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAActctcaaggacgAGATCGAGACCCGACGC chr1:209789385-Variant-C;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Variant C aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AGGTGCCGTATC CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaggtgccgtatcAGATCGAGACCCGACGC chr1:209789385-Variant-C;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Variant C aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AACGCGGAACCT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaacgcggaacctAGATCGAGACCCGACGC chr1:209789385-Variant-C;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Variant C aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CGCCTGTTAATT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAcgcctgttaattAGATCGAGACCCGACGC chr1:209789385-Variant-C;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Variant C aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CAGACGTAAGTT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccCacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAcagacgtaagttAGATCGAGACCCGACGC chr1:209789385-Variant-C;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative A aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GTCTAGGCGCTT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAgtctaggcgcttAGATCGAGACCCGACGC chr1:209789385-Alternative-A;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative A aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GGTTACCGCGTT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAggttaccgcgttAGATCGAGACCCGACGC chr1:209789385-Alternative-A;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative A aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AAGATGCCTAAG CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaagatgcctaagAGATCGAGACCCGACGC chr1:209789385-Alternative-A;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative A aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GTTAACCTTCCA CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAgttaaccttccaAGATCGAGACCCGACGC chr1:209789385-Alternative-A;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative A aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GGAGATCACGTC CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccAacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAggagatcacgtcAGATCGAGACCCGACGC chr1:209789385-Alternative-A;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Reference T aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactga ACCGAGTTCGCA CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaccgagttcgcaAGATCGAGACCCGACGC chr1:209789385-Reference-T;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Reference T aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactga ATTACACCGGCA CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAattacaccggcaAGATCGAGACCCGACGC chr1:209789385-Reference-T;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Reference T aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AGTCAAGCCGAA CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAagtcaagccgaaAGATCGAGACCCGACGC chr1:209789385-Reference-T;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Reference T aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GGACGCTGTTGT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAggacgctgttgtAGATCGAGACCCGACGC chr1:209789385-Reference-T;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Reference T aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AATACAACGTGG CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccTacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaatacaacgtggAGATCGAGACCCGACGC chr1:209789385-Reference-T;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative G aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CGTGTCGTACAG CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAcgtgtcgtacagAGATCGAGACCCGACGC chr1:209789385-Alternative-G;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative G aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactga GCGGCAAGTGAT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAgcggcaagtgatAGATCGAGACCCGACGC chr1:209789385-Alternative-G;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative G aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CGCCGGTTAACT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAcgccggttaactAGATCGAGACCCGACGC chr1:209789385-Alternative-G;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative G aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactga CAATGAGGTCTT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAcaatgaggtcttAGATCGAGACCCGACGC chr1:209789385-Alternative-G;Patient-30 chr1:209789385-TC Inherited Patient-30 intronic LAMB3 NA 8.38e-05 NA NA NA LAMB3 36434 Alternative G aacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactga AAGAACGTGGTT CGACGCGGTCTCTCTCTaacacccttatcctaatgtccctcctcttcctcacagcttctcccaggccGacacatccttccaggcccatctcaaatcttcttttcttaccttcactgaAGAGGGAGACGGACGTCTCAATAAaagaacgtggttAGATCGAGACCCGACGC chr1:209789385-Alternative-G;Patient-30 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative C cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GTTATGTGCTTC CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAgttatgtgcttcAGATCGAGACCCGACGC chr1:209978779-Alternative-C;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Reference G cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg ATAATGCGTGCA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAataatgcgtgcaAGATCGAGACCCGACGC chr1:209978779-Reference-G;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative C cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg ATCTCCGTAAGA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAatctccgtaagaAGATCGAGACCCGACGC chr1:209978779-Alternative-C;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative C cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGCTCACCGATA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcgctcaccgataAGATCGAGACCCGACGC chr1:209978779-Alternative-C;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Reference G cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GGTGTACAGTAA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAggtgtacagtaaAGATCGAGACCCGACGC chr1:209978779-Reference-G;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative A cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg AGCTCACTTACG CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAagctcacttacgAGATCGAGACCCGACGC chr1:209978779-Alternative-A;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative C cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg AACTCCGAAGAT CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAaactccgaagatAGATCGAGACCCGACGC chr1:209978779-Alternative-C;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative C cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CTCTGCTTCGTC CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttCtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAActctgcttcgtcAGATCGAGACCCGACGC chr1:209978779-Alternative-C;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Reference G cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GGCAATCTAGCA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAggcaatctagcaAGATCGAGACCCGACGC chr1:209978779-Reference-G;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Reference G cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGCGATAAGTAA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcgcgataagtaaAGATCGAGACCCGACGC chr1:209978779-Reference-G;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Reference G cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg AGTATTACCTGG CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttGtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAagtattacctggAGATCGAGACCCGACGC chr1:209978779-Reference-G;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative A cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGCTAATAACAG CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcgctaataacagAGATCGAGACCCGACGC chr1:209978779-Alternative-A;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Variant T cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GACGCAACCAAG CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAgacgcaaccaagAGATCGAGACCCGACGC chr1:209978779-Variant-T;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Variant T cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGGCAACTGGTT CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcggcaactggttAGATCGAGACCCGACGC chr1:209978779-Variant-T;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Variant T cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg ATACGGCATGTT CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAatacggcatgttAGATCGAGACCCGACGC chr1:209978779-Variant-T;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Variant T cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GTAGCGAGCAGT CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAgtagcgagcagtAGATCGAGACCCGACGC chr1:209978779-Variant-T;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative A cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg GCATTCATAGCA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAgcattcatagcaAGATCGAGACCCGACGC chr1:209978779-Alternative-A;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Variant T cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGACTACGCGAA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttTtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcgactacgcgaaAGATCGAGACCCGACGC chr1:209978779-Variant-T;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative A cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg ACAACGGACCTA CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAacaacggacctaAGATCGAGACCCGACGC chr1:209978779-Alternative-A;Patient-61 chr1:209978779-GT Inherited Patient-61 intronic IRF6 NA 0.00016 1.11 13.96 2.69 IRF6 740 Alternative A cagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcaggg CGATTCACTGGT CGACGCGGTCTCTCTCTcagcgccaccctccccagcacctagctccgctccttggaaatccaaggttAtctcccaggcccagggcgaagggcctaactgtgccaaacagactcagggAGAGGGAGACGGACGTCTCAATAAcgattcactggtAGATCGAGACCCGACGC chr1:209978779-Alternative-A;Patient-61 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative T gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc AGCATCTTACCT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAagcatcttacctAGATCGAGACCCGACGC chr1:2100547-Alternative-T;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative T gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc CGACACACGGAA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAcgacacacggaaAGATCGAGACCCGACGC chr1:2100547-Alternative-T;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative T gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ATAAGGACGTCA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAataaggacgtcaAGATCGAGACCCGACGC chr1:2100547-Alternative-T;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative T gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ATAACGCGTTCA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAataacgcgttcaAGATCGAGACCCGACGC chr1:2100547-Alternative-T;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Reference G gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ACATAGGTTAGG CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAacataggttaggAGATCGAGACCCGACGC chr1:2100547-Reference-G;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Variant A gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc GATCCTACTAAG CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAgatcctactaagAGATCGAGACCCGACGC chr1:2100547-Variant-A;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative C gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ACTCTCGCGCAA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAactctcgcgcaaAGATCGAGACCCGACGC chr1:2100547-Alternative-C;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative C gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc GGAATGACCAGT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAggaatgaccagtAGATCGAGACCCGACGC chr1:2100547-Alternative-C;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Variant A gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc CGTTCGTGTCAC CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAcgttcgtgtcacAGATCGAGACCCGACGC chr1:2100547-Variant-A;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative C gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc GGTTACCACGTC CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAggttaccacgtcAGATCGAGACCCGACGC chr1:2100547-Alternative-C;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Variant A gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc AGGCGAGTAATT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAaggcgagtaattAGATCGAGACCCGACGC chr1:2100547-Variant-A;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Variant A gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc CGTAGTCCGGAA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAcgtagtccggaaAGATCGAGACCCGACGC chr1:2100547-Variant-A;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative T gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc CGAACGACGCAA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccTtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAcgaacgacgcaaAGATCGAGACCCGACGC chr1:2100547-Alternative-T;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative C gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ACACGCAAGTAA CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAacacgcaagtaaAGATCGAGACCCGACGC chr1:2100547-Alternative-C;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Variant A gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc AGAACGGTAGGT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccAtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAagaacggtaggtAGATCGAGACCCGACGC chr1:2100547-Variant-A;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Alternative C gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc GCATCGGCCAAT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccCtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAgcatcggccaatAGATCGAGACCCGACGC chr1:2100547-Alternative-C;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Reference G gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc AGGTGTCCGACT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAaggtgtccgactAGATCGAGACCCGACGC chr1:2100547-Reference-G;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Reference G gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc AATCATGGACCT CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAaatcatggacctAGATCGAGACCCGACGC chr1:2100547-Reference-G;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Reference G gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc ACCTATGACTTC CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAacctatgacttcAGATCGAGACCCGACGC chr1:2100547-Reference-G;Patient-65 chr1:2100547-GA Inherited Patient-65 intronic PRKCZ 3.7e-05 4.95e-05 -0.24 0.55 -3.99 SKI 59586 Reference G gactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagccccc CACTTCTCATGG CGACGCGGTCTCTCTCTgactcctcagccttgcagcaatgaaatcaggccttgaggccaccccacccGtgacctgcggtgctgtccccatgcaagaaactgcctcgctccagcccccAGAGGGAGACGGACGTCTCAATAAcacttctcatggAGATCGAGACCCGACGC chr1:2100547-Reference-G;Patient-65 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative G ggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GGTGGTATCGTC CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAggtggtatcgtcAGATCGAGACCCGACGC chr1:210599208-Alternative-G;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative G ggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa CGGACAACTGGT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAcggacaactggtAGATCGAGACCCGACGC chr1:210599208-Alternative-G;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative G ggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GACATAATGTGG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgacataatgtggAGATCGAGACCCGACGC chr1:210599208-Alternative-G;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Reference T ggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GTTGAGTACACT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgttgagtacactAGATCGAGACCCGACGC chr1:210599208-Reference-T;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Reference T ggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa CTGCGCGACTAT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAActgcgcgactatAGATCGAGACCCGACGC chr1:210599208-Reference-T;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative G ggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa ACGTCCTAGTGG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAacgtcctagtggAGATCGAGACCCGACGC chr1:210599208-Alternative-G;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Reference T ggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GACGCTACAACC CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgacgctacaaccAGATCGAGACCCGACGC chr1:210599208-Reference-T;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Reference T ggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GCGATACAGTTA CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgcgatacagttaAGATCGAGACCCGACGC chr1:210599208-Reference-T;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative G ggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GACCAAGACGCA CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttGctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgaccaagacgcaAGATCGAGACCCGACGC chr1:210599208-Alternative-G;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Variant C ggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa AGATTCCGGATT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAagattccggattAGATCGAGACCCGACGC chr1:210599208-Variant-C;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative A ggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa CGAAGGAGTATT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAcgaaggagtattAGATCGAGACCCGACGC chr1:210599208-Alternative-A;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Reference T ggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GTTCGCTTCTGG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttTctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgttcgcttctggAGATCGAGACCCGACGC chr1:210599208-Reference-T;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative A ggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa ACGTCAACGAAG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAacgtcaacgaagAGATCGAGACCCGACGC chr1:210599208-Alternative-A;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative A ggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GTTGGATATCCA CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgttggatatccaAGATCGAGACCCGACGC chr1:210599208-Alternative-A;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Variant C ggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa CGTTAGCGGCAA CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAcgttagcggcaaAGATCGAGACCCGACGC chr1:210599208-Variant-C;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative A ggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa GTTGTTACGAAG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAgttgttacgaagAGATCGAGACCCGACGC chr1:210599208-Alternative-A;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Alternative A ggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa ACGACGCGCTAT CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttActagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAacgacgcgctatAGATCGAGACCCGACGC chr1:210599208-Alternative-A;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Variant C ggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa ACGCCGCAAGAA CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAacgccgcaagaaAGATCGAGACCCGACGC chr1:210599208-Variant-C;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Variant C ggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa ACATGCCTAAGG CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAacatgcctaaggAGATCGAGACCCGACGC chr1:210599208-Variant-C;Patient-37 chr1:210599208-TC Inherited Patient-37 intronic HHAT 0.00086 9.9e-05 0.82 11.99 0.13 HHAT 97611 Variant C ggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaa AATAGCGACGGC CGACGCGGTCTCTCTCTggatatatgggctcttctttggttccatatgaattttaaaataattttttCctagttctgtgaagaatgtcaatggtagtttgataggaatagcattgaaAGAGGGAGACGGACGTCTCAATAAaatagcgacggcAGATCGAGACCCGACGC chr1:210599208-Variant-C;Patient-37 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative A gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc ATACTAGCGAGA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAatactagcgagaAGATCGAGACCCGACGC chr1:211291256-Alternative-A;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Variant T gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CAACGAAGCTAA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAcaacgaagctaaAGATCGAGACCCGACGC chr1:211291256-Variant-T;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Variant T gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CACTTAGTAACG CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAcacttagtaacgAGATCGAGACCCGACGC chr1:211291256-Variant-T;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative A gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GGACTTAGTGCA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAggacttagtgcaAGATCGAGACCCGACGC chr1:211291256-Alternative-A;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative A gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CGGACTTACATT CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAcggacttacattAGATCGAGACCCGACGC chr1:211291256-Alternative-A;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative G gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc AGATACTAACGC CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAagatactaacgcAGATCGAGACCCGACGC chr1:211291256-Alternative-G;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Reference C gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc ACATGCTTCGGC CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAacatgcttcggcAGATCGAGACCCGACGC chr1:211291256-Reference-C;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Reference C gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GTTGGATTCACA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAgttggattcacaAGATCGAGACCCGACGC chr1:211291256-Reference-C;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Variant T gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc ATACCATCATGG CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAataccatcatggAGATCGAGACCCGACGC chr1:211291256-Variant-T;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative G gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc AGGCGCAGACTT CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAaggcgcagacttAGATCGAGACCCGACGC chr1:211291256-Alternative-G;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Reference C gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CAACGTGTAGTT CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAcaacgtgtagttAGATCGAGACCCGACGC chr1:211291256-Reference-C;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Variant T gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GGTAAGGCGAGT CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAggtaaggcgagtAGATCGAGACCCGACGC chr1:211291256-Variant-T;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative A gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc ACGACTTCTAGA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAacgacttctagaAGATCGAGACCCGACGC chr1:211291256-Alternative-A;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Reference C gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GGTTGAGGATCG CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAggttgaggatcgAGATCGAGACCCGACGC chr1:211291256-Reference-C;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Variant T gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc AACCGAAGGTTA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacTggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAaaccgaaggttaAGATCGAGACCCGACGC chr1:211291256-Variant-T;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative A gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CTACGACGCATA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacAggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAActacgacgcataAGATCGAGACCCGACGC chr1:211291256-Alternative-A;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Reference C gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GCAACCAAGTCT CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacCggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAgcaaccaagtctAGATCGAGACCCGACGC chr1:211291256-Reference-C;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative G gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc CGCATCGTAACG CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAcgcatcgtaacgAGATCGAGACCCGACGC chr1:211291256-Alternative-G;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative G gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc GAATCAACGCTA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAgaatcaacgctaAGATCGAGACCCGACGC chr1:211291256-Alternative-G;Patient-80 chr1:211291256-CT DeNovo Patient-80 intronic KCNH1 9.6e-05 9.47e-05 0.03 3.12 1.16 KCNH1 16200 Alternative G gatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagc AGTTCATAGCCA CGACGCGGTCTCTCTCTgatgatgccccacaacctgcaagccatgcatccatatggagtaatcaaacGggtcatgaccatgaaatatcacttctctaaatgctggactctgtgcagcAGAGGGAGACGGACGTCTCAATAAagttcatagccaAGATCGAGACCCGACGC chr1:211291256-Alternative-G;Patient-80 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Variant G atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc ACGCATGCTTCT CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAacgcatgcttctAGATCGAGACCCGACGC chr1:211332605-Variant-G;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Variant G atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc AGATCATTCCGA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAagatcattccgaAGATCGAGACCCGACGC chr1:211332605-Variant-G;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Variant G atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc ACTTCGGAACTT CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAacttcggaacttAGATCGAGACCCGACGC chr1:211332605-Variant-G;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Variant G atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CTCTTGAACGCG CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAActcttgaacgcgAGATCGAGACCCGACGC chr1:211332605-Variant-G;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative A atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GCATACCACAAC CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgcataccacaacAGATCGAGACCCGACGC chr1:211332605-Alternative-A;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Reference T atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GTTCACCGCCTA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgttcaccgcctaAGATCGAGACCCGACGC chr1:211332605-Reference-T;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative C atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GAGAGTCTGTTA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgagagtctgttaAGATCGAGACCCGACGC chr1:211332605-Alternative-C;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Reference T atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CGAAGCATCGAG CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAcgaagcatcgagAGATCGAGACCCGACGC chr1:211332605-Reference-T;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative A atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc AGGCTATTCGAT CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAaggctattcgatAGATCGAGACCCGACGC chr1:211332605-Alternative-A;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Variant G atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CTCATGCTCATA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatGtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAActcatgctcataAGATCGAGACCCGACGC chr1:211332605-Variant-G;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative A atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GCCTTCGAGATA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgccttcgagataAGATCGAGACCCGACGC chr1:211332605-Alternative-A;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative C atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc AGGCACCATCGT CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAaggcaccatcgtAGATCGAGACCCGACGC chr1:211332605-Alternative-C;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative C atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc AGACGTACGGCA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAagacgtacggcaAGATCGAGACCCGACGC chr1:211332605-Alternative-C;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Reference T atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc AATAAGCAGTCG CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAaataagcagtcgAGATCGAGACCCGACGC chr1:211332605-Reference-T;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative C atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GCGCGATTATGG CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgcgcgattatggAGATCGAGACCCGACGC chr1:211332605-Alternative-C;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative A atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CGAGATGGCGAA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAcgagatggcgaaAGATCGAGACCCGACGC chr1:211332605-Alternative-A;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Reference T atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc GATGTTACCGCG CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAgatgttaccgcgAGATCGAGACCCGACGC chr1:211332605-Reference-T;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Reference T atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc ACAGCGGAGATA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatTtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAacagcggagataAGATCGAGACCCGACGC chr1:211332605-Reference-T;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative C atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CTCACACCAAGA CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatCtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAActcacaccaagaAGATCGAGACCCGACGC chr1:211332605-Alternative-C;Patient-1 chr1:211332605-TG DeNovo Patient-1 intergenic NA 0.000513 -0.11 1.29 0 KCNH1 25147 Alternative A atagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggc CATTCGCGGAGT CGACGCGGTCTCTCTCTatagtggtaacaaactccctcaacatttgcttatatgaaaaggatcttatAtcttcttcacttaggaagtttaggtttggctgggtatgaaattcttggcAGAGGGAGACGGACGTCTCAATAAcattcgcggagtAGATCGAGACCCGACGC chr1:211332605-Alternative-A;Patient-1 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative C ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggcc CAGAGCGTTGAG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAcagagcgttgagAGATCGAGACCCGACGC chr1:211392613-Alternative-C;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative G ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggcc ATCGGACCTAGT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAatcggacctagtAGATCGAGACCCGACGC chr1:211392613-Alternative-G;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Reference T ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GTGGCTTGGTGT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAgtggcttggtgtAGATCGAGACCCGACGC chr1:211392613-Reference-T;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Variant A ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GGTGAGGAGTCT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAggtgaggagtctAGATCGAGACCCGACGC chr1:211392613-Variant-A;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative G ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggcc AGCTATCGGCAG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAagctatcggcagAGATCGAGACCCGACGC chr1:211392613-Alternative-G;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative C ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggcc ACGATAGCTACC CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAacgatagctaccAGATCGAGACCCGACGC chr1:211392613-Alternative-C;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative G ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GGTTATCACGAT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAggttatcacgatAGATCGAGACCCGACGC chr1:211392613-Alternative-G;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Variant A ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggcc AGTCGCATTCTT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAagtcgcattcttAGATCGAGACCCGACGC chr1:211392613-Variant-A;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative C ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GTGCTCATCTTA CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAgtgctcatcttaAGATCGAGACCCGACGC chr1:211392613-Alternative-C;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative G ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GTAACATCAAGG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAgtaacatcaaggAGATCGAGACCCGACGC chr1:211392613-Alternative-G;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Reference T ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggcc AACTCTAGCACA CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAaactctagcacaAGATCGAGACCCGACGC chr1:211392613-Reference-T;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Reference T ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggcc AATGCGCGCACA CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAaatgcgcgcacaAGATCGAGACCCGACGC chr1:211392613-Reference-T;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Variant A ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggcc CATATACGCGGC CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAcatatacgcggcAGATCGAGACCCGACGC chr1:211392613-Variant-A;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Reference T ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GTATACTCGCGG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAgtatactcgcggAGATCGAGACCCGACGC chr1:211392613-Reference-T;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative G ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggcc CATAGCGCAATA CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataGatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAcatagcgcaataAGATCGAGACCCGACGC chr1:211392613-Alternative-G;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Reference T ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggcc ACAACCGCCTAC CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataTatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAacaaccgcctacAGATCGAGACCCGACGC chr1:211392613-Reference-T;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative C ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggcc GAGTACTCACCG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAgagtactcaccgAGATCGAGACCCGACGC chr1:211392613-Alternative-C;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Variant A ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggcc AGATAGTGAGCT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAagatagtgagctAGATCGAGACCCGACGC chr1:211392613-Variant-A;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Alternative C ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggcc CAGATCAACGAG CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataCatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAcagatcaacgagAGATCGAGACCCGACGC chr1:211392613-Alternative-C;Patient-17 chr1:211392613-TA Inherited Patient-17 intergenic 0.000214 0.00154 0.03 3.15 0 KCNH1 85155 Variant A ctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggcc CGTGTTCGGCTT CGACGCGGTCTCTCTCTctgggcaagagagcaagactccatctcaaaaaaataaatatatatatataAatatatatatatatatatatatgtaattttgaaacatgttatcagggccAGAGGGAGACGGACGTCTCAATAAcgtgttcggcttAGATCGAGACCCGACGC chr1:211392613-Variant-A;Patient-17 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Reference T gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac AAGTATAGCGCA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAaagtatagcgcaAGATCGAGACCCGACGC chr1:211425884-Reference-T;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative C gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac CACACGATGCGT CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAcacacgatgcgtAGATCGAGACCCGACGC chr1:211425884-Alternative-C;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative C gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GACGATTACGAA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgacgattacgaaAGATCGAGACCCGACGC chr1:211425884-Alternative-C;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative C gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac ATCGTCTGTAAC CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAatcgtctgtaacAGATCGAGACCCGACGC chr1:211425884-Alternative-C;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Variant A gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GACGTTCAAGCG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgacgttcaagcgAGATCGAGACCCGACGC chr1:211425884-Variant-A;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Variant A gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac CGAGGTGGTCAA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAcgaggtggtcaaAGATCGAGACCCGACGC chr1:211425884-Variant-A;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Variant A gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GCCGAACGTAGT CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgccgaacgtagtAGATCGAGACCCGACGC chr1:211425884-Variant-A;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Variant A gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GTTAACAACGGC CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgttaacaacggcAGATCGAGACCCGACGC chr1:211425884-Variant-A;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Reference T gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GCATGCGAAGTC CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgcatgcgaagtcAGATCGAGACCCGACGC chr1:211425884-Reference-T;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Variant A gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac CTAGCTAGATGA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaAgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAActagctagatgaAGATCGAGACCCGACGC chr1:211425884-Variant-A;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Reference T gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GCATCGATGTGC CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgcatcgatgtgcAGATCGAGACCCGACGC chr1:211425884-Reference-T;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative G gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac CAACCTAAGCCA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAcaacctaagccaAGATCGAGACCCGACGC chr1:211425884-Alternative-G;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Reference T gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac ACCATGGAGTCG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAaccatggagtcgAGATCGAGACCCGACGC chr1:211425884-Reference-T;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Reference T gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GGTCACTAGTCG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaTgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAggtcactagtcgAGATCGAGACCCGACGC chr1:211425884-Reference-T;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative C gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac CTTGCACAACGC CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAActtgcacaacgcAGATCGAGACCCGACGC chr1:211425884-Alternative-C;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative G gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac ACCTCGAAGCCA CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAacctcgaagccaAGATCGAGACCCGACGC chr1:211425884-Alternative-G;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative G gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GTCAGATAGCGG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgtcagatagcggAGATCGAGACCCGACGC chr1:211425884-Alternative-G;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative G gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GGCGTACATAAG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAggcgtacataagAGATCGAGACCCGACGC chr1:211425884-Alternative-G;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative C gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac AGCAACGGTGGT CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaCgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAagcaacggtggtAGATCGAGACCCGACGC chr1:211425884-Alternative-C;Patient-55 chr1:211425884-TA Inherited Patient-55 intergenic 0.000478 0.00103 -0.24 0.54 -1.48 RCOR3 6823 Alternative G gaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaac GTATCGTGTCGG CGACGCGGTCTCTCTCTgaaataagtttctattgtttgtaaatgacccagtctaaggtattttgttaGgcagcctgaatggactaagacaggtcttacaaccttggttagctacaacAGAGGGAGACGGACGTCTCAATAAgtatcgtgtcggAGATCGAGACCCGACGC chr1:211425884-Alternative-G;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative T gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta ATCGTCTGTCTA CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAatcgtctgtctaAGATCGAGACCCGACGC chr1:211441267-Alternative-T;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Variant G gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GATCGAGATCGC CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgatcgagatcgcAGATCGAGACCCGACGC chr1:211441267-Variant-G;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative T gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GCAACGTTGTCG CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgcaacgttgtcgAGATCGAGACCCGACGC chr1:211441267-Alternative-T;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Reference A gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta CGTATCCATAAG CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAcgtatccataagAGATCGAGACCCGACGC chr1:211441267-Reference-A;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative T gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GATGCGCTGAAC CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgatgcgctgaacAGATCGAGACCCGACGC chr1:211441267-Alternative-T;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Variant G gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GTAATGACCAGA CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgtaatgaccagaAGATCGAGACCCGACGC chr1:211441267-Variant-G;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Reference A gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta AATGCTCATGGT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAaatgctcatggtAGATCGAGACCCGACGC chr1:211441267-Reference-A;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Reference A gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta CAGGTAGAAGTT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAcaggtagaagttAGATCGAGACCCGACGC chr1:211441267-Reference-A;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Reference A gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta AGCAGGTTAGAT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAagcaggttagatAGATCGAGACCCGACGC chr1:211441267-Reference-A;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative C gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta AGATCGGCTTCG CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAagatcggcttcgAGATCGAGACCCGACGC chr1:211441267-Alternative-C;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Variant G gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta CGTTCTTGAGTT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAcgttcttgagttAGATCGAGACCCGACGC chr1:211441267-Variant-G;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative T gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GCGCCACATACT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgcgccacatactAGATCGAGACCCGACGC chr1:211441267-Alternative-T;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative T gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta CGTACGCTGTTC CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaTaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAcgtacgctgttcAGATCGAGACCCGACGC chr1:211441267-Alternative-T;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Variant G gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta ATTGGCGAAGAT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAattggcgaagatAGATCGAGACCCGACGC chr1:211441267-Variant-G;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Reference A gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta ACGGCTTAAGTT CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaAaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAacggcttaagttAGATCGAGACCCGACGC chr1:211441267-Reference-A;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative C gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta AAGGCAATAAGG CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAaaggcaataaggAGATCGAGACCCGACGC chr1:211441267-Alternative-C;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative C gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta CGGAGCCTAACA CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAcggagcctaacaAGATCGAGACCCGACGC chr1:211441267-Alternative-C;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative C gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GAATAACGGCGA CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgaataacggcgaAGATCGAGACCCGACGC chr1:211441267-Alternative-C;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Alternative C gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GTAACCGTGAAC CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaCaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgtaaccgtgaacAGATCGAGACCCGACGC chr1:211441267-Alternative-C;Patient-55 chr1:211441267-AG Inherited Patient-55 intronic RCOR3 NA 4.95e-05 0.18 5.56 1.18 RCOR3 8558 Variant G gagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatatttta GACGTTGTTCGG CGACGCGGTCTCTCTCTgagccactgcacccagcctgtagctgttaccttttatggggaaaaatttaGaaaaagtttaatatctctttgagaagggacatttaatgaagatattttaAGAGGGAGACGGACGTCTCAATAAgacgttgttcggAGATCGAGACCCGACGC chr1:211441267-Variant-G;Patient-55 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative C gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GTACGGCTCGAT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAgtacggctcgatAGATCGAGACCCGACGC chr1:211822826-Alternative-C;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative C gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GAGTAGCCGTCA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAgagtagccgtcaAGATCGAGACCCGACGC chr1:211822826-Alternative-C;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative C gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CGCATCGGTATC CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAcgcatcggtatcAGATCGAGACCCGACGC chr1:211822826-Alternative-C;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative C gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CTAGCTTCGCTA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAActagcttcgctaAGATCGAGACCCGACGC chr1:211822826-Alternative-C;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative C gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GGTAGCGACTTA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagCgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAggtagcgacttaAGATCGAGACCCGACGC chr1:211822826-Alternative-C;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Reference A gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct ACTCTAGCTAGA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAactctagctagaAGATCGAGACCCGACGC chr1:211822826-Reference-A;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Reference A gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CTCGCATGTAGT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAActcgcatgtagtAGATCGAGACCCGACGC chr1:211822826-Reference-A;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Variant G gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GCGACGAGATAC CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAgcgacgagatacAGATCGAGACCCGACGC chr1:211822826-Variant-G;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Variant G gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GAAGAGTATCGT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAgaagagtatcgtAGATCGAGACCCGACGC chr1:211822826-Variant-G;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative T gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct ACGTGTTAACCA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAacgtgttaaccaAGATCGAGACCCGACGC chr1:211822826-Alternative-T;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Reference A gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct ACTACGCTATGA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAactacgctatgaAGATCGAGACCCGACGC chr1:211822826-Reference-A;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Reference A gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CGCCTTGGTTCT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAcgccttggttctAGATCGAGACCCGACGC chr1:211822826-Reference-A;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative T gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct GACGCGAATATT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAgacgcgaatattAGATCGAGACCCGACGC chr1:211822826-Alternative-T;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative T gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CTCTCACATCGC CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAActctcacatcgcAGATCGAGACCCGACGC chr1:211822826-Alternative-T;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative T gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct ACTGCTTCGGAG CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAactgcttcggagAGATCGAGACCCGACGC chr1:211822826-Alternative-T;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Variant G gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct AAGACGCGGTCT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAaagacgcggtctAGATCGAGACCCGACGC chr1:211822826-Variant-G;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Alternative T gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CTGTCGCTACGT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagTgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAActgtcgctacgtAGATCGAGACCCGACGC chr1:211822826-Alternative-T;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Reference A gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct ACGTCTAACGGC CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagAgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAacgtctaacggcAGATCGAGACCCGACGC chr1:211822826-Reference-A;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Variant G gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct AATCTGCAACGT CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAaatctgcaacgtAGATCGAGACCCGACGC chr1:211822826-Variant-G;Patient-53 chr1:211822826-AG DeNovo Patient-53 intergenic 6.4e-05 0.00103 -0.3 0.36 -6.99 NEK2 26145 Variant G gtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttct CATAGGCGATTA CGACGCGGTCTCTCTCTgtgggtgtgcatgtgtgtccttgggggaagctgggggaaaggggcaaaagGgaaccctcactgggaacctttttctaaatacaaatggctgcccccttctAGAGGGAGACGGACGTCTCAATAAcataggcgattaAGATCGAGACCCGACGC chr1:211822826-Variant-G;Patient-53 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Variant T tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ACGAACACCAAG CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgaacaccaagAGATCGAGACCCGACGC chr1:216516834-Variant-T;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Variant T tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ATACTAGCCAAG CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatactagccaagAGATCGAGACCCGACGC chr1:216516834-Variant-T;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Variant T tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa CATAACACGACC CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcataacacgaccAGATCGAGACCCGACGC chr1:216516834-Variant-T;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative G tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ATACATGGTACG CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatacatggtacgAGATCGAGACCCGACGC chr1:216516834-Alternative-G;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Variant T tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa CTGCTGTCATCG CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActgctgtcatcgAGATCGAGACCCGACGC chr1:216516834-Variant-T;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative G tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ACCGTGGTATTA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaccgtggtattaAGATCGAGACCCGACGC chr1:216516834-Alternative-G;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Variant T tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa CGAGGACCATGT CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaTtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgaggaccatgtAGATCGAGACCCGACGC chr1:216516834-Variant-T;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative G tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GTCGGAATGTGC CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcggaatgtgcAGATCGAGACCCGACGC chr1:216516834-Alternative-G;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative A tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa AGGTGCGAACAT CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggtgcgaacatAGATCGAGACCCGACGC chr1:216516834-Alternative-A;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative G tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GATGACGGTCTA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgatgacggtctaAGATCGAGACCCGACGC chr1:216516834-Alternative-G;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative G tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa CGGAGTCGCATA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaGtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggagtcgcataAGATCGAGACCCGACGC chr1:216516834-Alternative-G;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative A tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GATGTGAATGCA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgatgtgaatgcaAGATCGAGACCCGACGC chr1:216516834-Alternative-A;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative A tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GTCTCGAACGGT CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtctcgaacggtAGATCGAGACCCGACGC chr1:216516834-Alternative-A;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Reference C tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GGCCGATACGAA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggccgatacgaaAGATCGAGACCCGACGC chr1:216516834-Reference-C;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative A tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GTTGTAACGTTC CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttgtaacgttcAGATCGAGACCCGACGC chr1:216516834-Alternative-A;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Reference C tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ATAGAGGTTCGT CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatagaggttcgtAGATCGAGACCCGACGC chr1:216516834-Reference-C;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Reference C tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa AGCTGCCAACAC CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagctgccaacacAGATCGAGACCCGACGC chr1:216516834-Reference-C;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Alternative A tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa CTAGTTACACAC CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaAtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActagttacacacAGATCGAGACCCGACGC chr1:216516834-Alternative-A;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Reference C tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa ACGCCATCGTGT CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgccatcgtgtAGATCGAGACCCGACGC chr1:216516834-Reference-C;Patient-26 chr1:216516834-CT DeNovo Patient-26 intronic USH2A NA 4.19e-05 -0.08 1.58 0.15 USH2A 79903 Reference C tgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaa GACAACGAAGAA CGACGCGGTCTCTCTCTtgacaggaggattacttgagactgcactaggatacgatcatgccactgcaCtccagcctgggcgacaaagcaatactacatcttaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgacaacgaagaaAGATCGAGACCCGACGC chr1:216516834-Reference-C;Patient-26 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Reference T ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgag GTCTCCTATCAG CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAgtctcctatcagAGATCGAGACCCGACGC chr1:216570756-Reference-T;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Variant A ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgag GAATTATCGACC CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAgaattatcgaccAGATCGAGACCCGACGC chr1:216570756-Variant-A;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative G ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgag AATACGGCAAGT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaatacggcaagtAGATCGAGACCCGACGC chr1:216570756-Alternative-G;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Variant A ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgag GTACGACGTGAT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAgtacgacgtgatAGATCGAGACCCGACGC chr1:216570756-Variant-A;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative G ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgag CGTCGGTCGATA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcgtcggtcgataAGATCGAGACCCGACGC chr1:216570756-Alternative-G;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Reference T ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgag AGCGGCGACTAA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAagcggcgactaaAGATCGAGACCCGACGC chr1:216570756-Reference-T;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Variant A ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgag AATATGCTTGCG CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaatatgcttgcgAGATCGAGACCCGACGC chr1:216570756-Variant-A;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative G ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgag AACGCCAGCGAA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaacgccagcgaaAGATCGAGACCCGACGC chr1:216570756-Alternative-G;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Reference T ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgag AGCTGGTCATAC CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAagctggtcatacAGATCGAGACCCGACGC chr1:216570756-Reference-T;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative G ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgag AATAGCATGCCT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaatagcatgcctAGATCGAGACCCGACGC chr1:216570756-Alternative-G;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Reference T ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgag CATGCGTGGCTT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcatgcgtggcttAGATCGAGACCCGACGC chr1:216570756-Reference-T;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Variant A ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgag CATAACATGTCG CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcataacatgtcgAGATCGAGACCCGACGC chr1:216570756-Variant-A;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Variant A ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgag GCGCTACCGATA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaActattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAgcgctaccgataAGATCGAGACCCGACGC chr1:216570756-Variant-A;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Reference T ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgag AACTCCACGATA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaTctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaactccacgataAGATCGAGACCCGACGC chr1:216570756-Reference-T;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative G ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgag CACTTCTGACAT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaGctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcacttctgacatAGATCGAGACCCGACGC chr1:216570756-Alternative-G;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative C ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgag CATTCGGCTTAT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcattcggcttatAGATCGAGACCCGACGC chr1:216570756-Alternative-C;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative C ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgag CGAACAGCAAGT CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcgaacagcaagtAGATCGAGACCCGACGC chr1:216570756-Alternative-C;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative C ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgag ACCAACTTGACA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAaccaacttgacaAGATCGAGACCCGACGC chr1:216570756-Alternative-C;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative C ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgag ACAACATGCCAA CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAacaacatgccaaAGATCGAGACCCGACGC chr1:216570756-Alternative-C;Patient-94 chr1:216570756-TA Inherited Patient-94 intronic USH2A NA 4.19e-05 NA NA NA USH2A 25981 Alternative C ctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgag CGACGATACGAG CGACGCGGTCTCTCTCTctggattgagggatacctagatggctggtaaagcactgtttcttgatgtaCctattgcggtgtttccagaggagattgacatataagccagtggactgagAGAGGGAGACGGACGTCTCAATAAcgacgatacgagAGATCGAGACCCGACGC chr1:216570756-Alternative-C;Patient-94 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative C aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct ATATAAGGCGAC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAatataaggcgacAGATCGAGACCCGACGC chr1:2167552-Alternative-C;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative T aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct ACTTCTGTTGGT CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAacttctgttggtAGATCGAGACCCGACGC chr1:2167552-Alternative-T;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Variant A aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GCGTCAAGATAA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgcgtcaagataaAGATCGAGACCCGACGC chr1:2167552-Variant-A;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Variant A aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GATTGATGCACA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgattgatgcacaAGATCGAGACCCGACGC chr1:2167552-Variant-A;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative C aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GAGCTCTGAAGG CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgagctctgaaggAGATCGAGACCCGACGC chr1:2167552-Alternative-C;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Reference G aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct AATGCGTCAAGA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAaatgcgtcaagaAGATCGAGACCCGACGC chr1:2167552-Reference-G;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Reference G aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CGTAATATGTGC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcgtaatatgtgcAGATCGAGACCCGACGC chr1:2167552-Reference-G;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative T aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CGCCTCGTAGTT CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcgcctcgtagttAGATCGAGACCCGACGC chr1:2167552-Alternative-T;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Variant A aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CGGAGGTTAACC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcggaggttaaccAGATCGAGACCCGACGC chr1:2167552-Variant-A;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative T aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CGGTCCGTCTAA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcggtccgtctaaAGATCGAGACCCGACGC chr1:2167552-Alternative-T;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Reference G aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CAATGGTGGTGG CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcaatggtggtggAGATCGAGACCCGACGC chr1:2167552-Reference-G;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative T aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct ACTCCGACTAAG CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAactccgactaagAGATCGAGACCCGACGC chr1:2167552-Alternative-T;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Variant A aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GATAGACCGACC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgatagaccgaccAGATCGAGACCCGACGC chr1:2167552-Variant-A;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative C aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct CACAGCGTCTTC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAcacagcgtcttcAGATCGAGACCCGACGC chr1:2167552-Alternative-C;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative C aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct AGACTACGGACG CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAagactacggacgAGATCGAGACCCGACGC chr1:2167552-Alternative-C;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Variant A aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct AATACGCACCAC CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcAtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAaatacgcaccacAGATCGAGACCCGACGC chr1:2167552-Variant-A;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Reference G aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct AATCATGTCGGT CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAaatcatgtcggtAGATCGAGACCCGACGC chr1:2167552-Reference-G;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Reference G aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct AGCGGTATTCGG CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcGtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAagcggtattcggAGATCGAGACCCGACGC chr1:2167552-Reference-G;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative C aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GTAAGCACGATA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcCtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgtaagcacgataAGATCGAGACCCGACGC chr1:2167552-Alternative-C;Patient-74 chr1:2167552-GA DeNovo Patient-74 intronic SKI NA 4.95e-05 0.01 2.77 0.64 SKI 7417 Alternative T aggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcct GCATCACTTACA CGACGCGGTCTCTCTCTaggagtgctctgcctcggtgcctctgcagctgcagatgctgaatcggggcTtttaggcctgcctcttgggctggcacacctggcggccttggtcaggcctAGAGGGAGACGGACGTCTCAATAAgcatcacttacaAGATCGAGACCCGACGC chr1:2167552-Alternative-T;Patient-74 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative A gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag CTAGTCAAGTGT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAActagtcaagtgtAGATCGAGACCCGACGC chr1:218523365-Alternative-A;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Reference C gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag AGGCAGTAAGTT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAaggcagtaagttAGATCGAGACCCGACGC chr1:218523365-Reference-C;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Reference C gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GGTTAGCTAGCA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAggttagctagcaAGATCGAGACCCGACGC chr1:218523365-Reference-C;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Reference C gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag ACCTAACCTACC CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAacctaacctaccAGATCGAGACCCGACGC chr1:218523365-Reference-C;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative A gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GATTCGCGGCAT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgattcgcggcatAGATCGAGACCCGACGC chr1:218523365-Alternative-A;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Variant T gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GCGAACACGTCA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgcgaacacgtcaAGATCGAGACCCGACGC chr1:218523365-Variant-T;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Reference C gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag AGGACAGATGCA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAaggacagatgcaAGATCGAGACCCGACGC chr1:218523365-Reference-C;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative G gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag AGCATTCTGGCG CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAagcattctggcgAGATCGAGACCCGACGC chr1:218523365-Alternative-G;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Reference C gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GATTGCGATAAC CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaCtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgattgcgataacAGATCGAGACCCGACGC chr1:218523365-Reference-C;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative A gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GATAGTCGGATA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgatagtcggataAGATCGAGACCCGACGC chr1:218523365-Alternative-A;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative A gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag ATATAGGCGGTT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAatataggcggttAGATCGAGACCCGACGC chr1:218523365-Alternative-A;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Variant T gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GCGCACAAGTAC CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgcgcacaagtacAGATCGAGACCCGACGC chr1:218523365-Variant-T;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Variant T gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag CGAACGTGGCTA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAcgaacgtggctaAGATCGAGACCCGACGC chr1:218523365-Variant-T;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative A gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GGTTAACGGACG CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaAtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAggttaacggacgAGATCGAGACCCGACGC chr1:218523365-Alternative-A;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Variant T gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GCGACACATCGT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgcgacacatcgtAGATCGAGACCCGACGC chr1:218523365-Variant-T;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative G gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag CGTCCTTACTAA CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAcgtccttactaaAGATCGAGACCCGACGC chr1:218523365-Alternative-G;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative G gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag AGCAACATCACG CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAagcaacatcacgAGATCGAGACCCGACGC chr1:218523365-Alternative-G;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Variant T gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag AGCATACGTACC CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaTtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAagcatacgtaccAGATCGAGACCCGACGC chr1:218523365-Variant-T;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative G gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag ACAACCTGGTCG CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAacaacctggtcgAGATCGAGACCCGACGC chr1:218523365-Alternative-G;Patient-19 chr1:218523365-CT DeNovo Patient-19 intronic TGFB2 NA 4.95e-05 1.69 16.74 2.13 TGFB2 4688 Alternative G gtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgag GCGACCTTGGAT CGACGCGGTCTCTCTCTgtttaagactcgaagtggagttatgctaaggtttaccgatagtttgcccaGtgggaattagtggacctctagtagtttaacaatccatttgaagttcgagAGAGGGAGACGGACGTCTCAATAAgcgaccttggatAGATCGAGACCCGACGC chr1:218523365-Alternative-G;Patient-19 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Reference G ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GTCGTCAGATCG CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAgtcgtcagatcgAGATCGAGACCCGACGC chr1:223068322-Reference-G;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Reference G ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GTCCGTTGTCGT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAgtccgttgtcgtAGATCGAGACCCGACGC chr1:223068322-Reference-G;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Reference G ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CTAGTACTTGTC CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAActagtacttgtcAGATCGAGACCCGACGC chr1:223068322-Reference-G;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Reference G ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CGGCATATCGGT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAcggcatatcggtAGATCGAGACCCGACGC chr1:223068322-Reference-G;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Reference G ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CTAGCGAACGGT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggGattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAActagcgaacggtAGATCGAGACCCGACGC chr1:223068322-Reference-G;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Variant T ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CTAGCTATCGAA CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAActagctatcgaaAGATCGAGACCCGACGC chr1:223068322-Variant-T;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Variant T ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt AAGCGGCCAACA CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaagcggccaacaAGATCGAGACCCGACGC chr1:223068322-Variant-T;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative C ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GGTCTTGTCTAT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAggtcttgtctatAGATCGAGACCCGACGC chr1:223068322-Alternative-C;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Variant T ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt AATGCTCAGTGT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaatgctcagtgtAGATCGAGACCCGACGC chr1:223068322-Variant-T;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Variant T ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GGTGTTGCTGAC CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAggtgttgctgacAGATCGAGACCCGACGC chr1:223068322-Variant-T;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Variant T ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CATTGGTGCGAC CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggTattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAcattggtgcgacAGATCGAGACCCGACGC chr1:223068322-Variant-T;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative C ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt AGGCTACCAGTC CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaggctaccagtcAGATCGAGACCCGACGC chr1:223068322-Alternative-C;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative C ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt CGTAAGCCACCA CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAcgtaagccaccaAGATCGAGACCCGACGC chr1:223068322-Alternative-C;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative A ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt ATCCTACCGAAG CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAatcctaccgaagAGATCGAGACCCGACGC chr1:223068322-Alternative-A;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative A ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt ACCGTAGACTAT CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaccgtagactatAGATCGAGACCCGACGC chr1:223068322-Alternative-A;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative A ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt AACAGCGAACGC CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaacagcgaacgcAGATCGAGACCCGACGC chr1:223068322-Alternative-A;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative A ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt AATGTCGAGGCG CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAaatgtcgaggcgAGATCGAGACCCGACGC chr1:223068322-Alternative-A;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative A ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GGACTCACCGAA CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggAattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAggactcaccgaaAGATCGAGACCCGACGC chr1:223068322-Alternative-A;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative C ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt GCCTTACGTTCG CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAgccttacgttcgAGATCGAGACCCGACGC chr1:223068322-Alternative-C;Patient-61 chr1:223068322-GT DeNovo Patient-61 intronic DISP1 NA 0.00016 -0.16 0.92 -0.08 DISP1 79890 Alternative C ctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacaccctt ATCCTGACGATA CGACGCGGTCTCTCTCTctaaagatttagaaacaccacctaagagattgatttgacccaaaggctggCattaaggacccacaggtagaaaaataagcatctgagtagggacacccttAGAGGGAGACGGACGTCTCAATAAatcctgacgataAGATCGAGACCCGACGC chr1:223068322-Alternative-C;Patient-61 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative A ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AATACATTGCGG CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaatacattgcggAGATCGAGACCCGACGC chr1:2238981-Alternative-A;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Reference T ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc ATCCTCGATAGA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAatcctcgatagaAGATCGAGACCCGACGC chr1:2238981-Reference-T;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Reference T ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc CTGTCTAAGCGG CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAActgtctaagcggAGATCGAGACCCGACGC chr1:2238981-Reference-T;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative A ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc ACTACGGATAAC CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAactacggataacAGATCGAGACCCGACGC chr1:2238981-Alternative-A;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Reference T ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc CAAGTAGTCGTT CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAcaagtagtcgttAGATCGAGACCCGACGC chr1:2238981-Reference-T;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Variant C ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc GATTCGCTATCA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAgattcgctatcaAGATCGAGACCCGACGC chr1:2238981-Variant-C;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Variant C ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc GCGGTATGTCAC CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAgcggtatgtcacAGATCGAGACCCGACGC chr1:2238981-Variant-C;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Variant C ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AATCTTAGCGCT CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaatcttagcgctAGATCGAGACCCGACGC chr1:2238981-Variant-C;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative A ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc CAACGGCAATCA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAcaacggcaatcaAGATCGAGACCCGACGC chr1:2238981-Alternative-A;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative A ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AACCGCCTTATT CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaaccgccttattAGATCGAGACCCGACGC chr1:2238981-Alternative-A;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative A ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AATCGATCTTCG CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggAggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaatcgatcttcgAGATCGAGACCCGACGC chr1:2238981-Alternative-A;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Variant C ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AGATCGTGGAGA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAagatcgtggagaAGATCGAGACCCGACGC chr1:2238981-Variant-C;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Reference T ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc CGAGCACATGAA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAcgagcacatgaaAGATCGAGACCCGACGC chr1:2238981-Reference-T;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Variant C ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AACTTATGTGCG CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggCggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaacttatgtgcgAGATCGAGACCCGACGC chr1:2238981-Variant-C;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative G ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc GTACTATCGGCA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAgtactatcggcaAGATCGAGACCCGACGC chr1:2238981-Alternative-G;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative G ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc ATCTGCACTCAT CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAatctgcactcatAGATCGAGACCCGACGC chr1:2238981-Alternative-G;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative G ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AAGGACAGATGT CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaaggacagatgtAGATCGAGACCCGACGC chr1:2238981-Alternative-G;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Reference T ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc ACTCGCACGTAC CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggTggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAactcgcacgtacAGATCGAGACCCGACGC chr1:2238981-Reference-T;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative G ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc GATACGTAGGCG CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAgatacgtaggcgAGATCGAGACCCGACGC chr1:2238981-Alternative-G;Patient-19 chr1:2238981-TC DeNovo Patient-19 3 prime UTR SKI NA 0.00016 0.08 3.93 -1.25 SKI 78846 Alternative G ccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgc AAGACCTAGCAA CGACGCGGTCTCTCTCTccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggGggtgaccgtggctggcggtcacgccctcagcccctccgggcacacgtgcAGAGGGAGACGGACGTCTCAATAAaagacctagcaaAGATCGAGACCCGACGC chr1:2238981-Alternative-G;Patient-19 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative G caataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GTAAGTCGTCAT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgtaagtcgtcatAGATCGAGACCCGACGC chr1:224277395-Alternative-G;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative G caataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca CGCGATGCTCAT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAcgcgatgctcatAGATCGAGACCCGACGC chr1:224277395-Alternative-G;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative G caataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GAGCTCAGTGCT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgagctcagtgctAGATCGAGACCCGACGC chr1:224277395-Alternative-G;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Reference T caataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GGTTCGGAGAGT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAggttcggagagtAGATCGAGACCCGACGC chr1:224277395-Reference-T;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative G caataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GCGTACAAGATA CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgcgtacaagataAGATCGAGACCCGACGC chr1:224277395-Alternative-G;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative G caataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca ACACTTCGTCAT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttGttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAacacttcgtcatAGATCGAGACCCGACGC chr1:224277395-Alternative-G;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Reference T caataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GTAGTAGCGAAC CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgtagtagcgaacAGATCGAGACCCGACGC chr1:224277395-Reference-T;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative A caataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca AATCGCTTCGTT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAaatcgcttcgttAGATCGAGACCCGACGC chr1:224277395-Alternative-A;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative A caataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca ACAGCTTCTCAT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAacagcttctcatAGATCGAGACCCGACGC chr1:224277395-Alternative-A;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Reference T caataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca AGCTCTTACCGC CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAagctcttaccgcAGATCGAGACCCGACGC chr1:224277395-Reference-T;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative A caataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GCCGTCTATTCG CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgccgtctattcgAGATCGAGACCCGACGC chr1:224277395-Alternative-A;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Variant C caataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca CATCCATTACCA CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAcatccattaccaAGATCGAGACCCGACGC chr1:224277395-Variant-C;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Reference T caataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca CGTCGCGTGATA CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAcgtcgcgtgataAGATCGAGACCCGACGC chr1:224277395-Reference-T;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative A caataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca ATCGGAGTCGAC CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAatcggagtcgacAGATCGAGACCCGACGC chr1:224277395-Alternative-A;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Reference T caataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca AGAGCTACGCAG CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttTttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAagagctacgcagAGATCGAGACCCGACGC chr1:224277395-Reference-T;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Variant C caataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GAGGTTGGATTA CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgaggttggattaAGATCGAGACCCGACGC chr1:224277395-Variant-C;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Alternative A caataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca AGGACTTAGAGT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttAttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAaggacttagagtAGATCGAGACCCGACGC chr1:224277395-Alternative-A;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Variant C caataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca CACTGTTCAACT CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAcactgttcaactAGATCGAGACCCGACGC chr1:224277395-Variant-C;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Variant C caataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca CTAGTCATTACG CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAActagtcattacgAGATCGAGACCCGACGC chr1:224277395-Variant-C;Patient-26 chr1:224277395-TC DeNovo Patient-26 intergenic NA 0.000513 -0.04 2.12 -1.86 DEGS1 93514 Variant C caataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatca GCAGGTAGCCTA CGACGCGGTCTCTCTCTcaataagtgtgtacactttattatatgcaaattgtaccattattaaggttCttttaagactatgttgcccaaggtgaacttgaacacctgggctcaatcaAGAGGGAGACGGACGTCTCAATAAgcaggtagcctaAGATCGAGACCCGACGC chr1:224277395-Variant-C;Patient-26 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative C ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag ATAGCTCAGTGT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAatagctcagtgtAGATCGAGACCCGACGC chr1:225594547-Alternative-C;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative C ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag CTAACAGCGCAT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAActaacagcgcatAGATCGAGACCCGACGC chr1:225594547-Alternative-C;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative C ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag CGGTCAATTCGC CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAcggtcaattcgcAGATCGAGACCCGACGC chr1:225594547-Alternative-C;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative C ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag CTCAACCGGAGA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAActcaaccggagaAGATCGAGACCCGACGC chr1:225594547-Alternative-C;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative C ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GTTAGCGCCTGA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacCgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAgttagcgcctgaAGATCGAGACCCGACGC chr1:225594547-Alternative-C;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Reference A ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GGCTAGCTATAA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAggctagctataaAGATCGAGACCCGACGC chr1:225594547-Reference-A;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Reference A ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag ATTGAACGGCTA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAattgaacggctaAGATCGAGACCCGACGC chr1:225594547-Reference-A;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Reference A ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag AGCTAATAGACG CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAagctaatagacgAGATCGAGACCCGACGC chr1:225594547-Reference-A;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Reference A ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag ACTCCAGTCGAA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAactccagtcgaaAGATCGAGACCCGACGC chr1:225594547-Reference-A;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Reference A ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag AGAGTGCTCAGT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacAgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAagagtgctcagtAGATCGAGACCCGACGC chr1:225594547-Reference-A;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative T ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GGTGACCGTTGT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAggtgaccgttgtAGATCGAGACCCGACGC chr1:225594547-Alternative-T;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative T ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag CAATGTGCGGCA CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAcaatgtgcggcaAGATCGAGACCCGACGC chr1:225594547-Alternative-T;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative T ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag ACTAAGACATGG CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAactaagacatggAGATCGAGACCCGACGC chr1:225594547-Alternative-T;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative T ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GTAACGCGTACC CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAgtaacgcgtaccAGATCGAGACCCGACGC chr1:225594547-Alternative-T;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Alternative T ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag AGTCTCTTAGCT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacTgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAagtctcttagctAGATCGAGACCCGACGC chr1:225594547-Alternative-T;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Variant G ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag CATTGGTCTGTT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAcattggtctgttAGATCGAGACCCGACGC chr1:225594547-Variant-G;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Variant G ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GTGTCGGACATT CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAgtgtcggacattAGATCGAGACCCGACGC chr1:225594547-Variant-G;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Variant G ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GTAGGATTAACG CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAgtaggattaacgAGATCGAGACCCGACGC chr1:225594547-Variant-G;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Variant G ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GCATTGGACGTC CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAgcattggacgtcAGATCGAGACCCGACGC chr1:225594547-Variant-G;Patient-30 chr1:225594547-AG Inherited Patient-30 intronic LBR 0.000127 0.000251 NA NA NA LBR 22009 Variant G ccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaag GGTCACTTCGTC CGACGCGGTCTCTCTCTccatcgtggatgatgtccatggtcgtcaacaacgcttcctataaggatacGgacggggaaagggagaaggagcttctgtgtttaaagtattcaaataaagAGAGGGAGACGGACGTCTCAATAAggtcacttcgtcAGATCGAGACCCGACGC chr1:225594547-Variant-G;Patient-30 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative G ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg AAGGCGTACAAT CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAaaggcgtacaatAGATCGAGACCCGACGC chr1:225599501-Alternative-G;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative G ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg ACTTGACGAGAA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAacttgacgagaaAGATCGAGACCCGACGC chr1:225599501-Alternative-G;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative A ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg CGCAATTGCCTA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAcgcaattgcctaAGATCGAGACCCGACGC chr1:225599501-Alternative-A;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative A ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg ACAAGATGTACG CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAacaagatgtacgAGATCGAGACCCGACGC chr1:225599501-Alternative-A;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative G ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg AATGCCGACCGA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAaatgccgaccgaAGATCGAGACCCGACGC chr1:225599501-Alternative-G;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Reference T ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GACCGATATGTT CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgaccgatatgttAGATCGAGACCCGACGC chr1:225599501-Reference-T;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Reference T ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GTGAACTCTCAA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgtgaactctcaaAGATCGAGACCCGACGC chr1:225599501-Reference-T;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Reference T ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GCGAACTAGCGA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgcgaactagcgaAGATCGAGACCCGACGC chr1:225599501-Reference-T;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative G ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GACTGAACGACC CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgactgaacgaccAGATCGAGACCCGACGC chr1:225599501-Alternative-G;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Reference T ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GCGTTACTGTGG CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgcgttactgtggAGATCGAGACCCGACGC chr1:225599501-Reference-T;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative A ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg AAGGTATGCCAA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAaaggtatgccaaAGATCGAGACCCGACGC chr1:225599501-Alternative-A;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Variant C ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg ATCCGCCTTCGA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAatccgccttcgaAGATCGAGACCCGACGC chr1:225599501-Variant-C;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Variant C ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg CGTGCTGTATGG CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAcgtgctgtatggAGATCGAGACCCGACGC chr1:225599501-Variant-C;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative G ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg AGTTCGCGACGA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgGttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAagttcgcgacgaAGATCGAGACCCGACGC chr1:225599501-Alternative-G;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative A ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GCGAGCAATCCT CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgcgagcaatcctAGATCGAGACCCGACGC chr1:225599501-Alternative-A;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Variant C ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GGTAGAAGATGT CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAggtagaagatgtAGATCGAGACCCGACGC chr1:225599501-Variant-C;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Variant C ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg CAGCGTTGCCTA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAcagcgttgcctaAGATCGAGACCCGACGC chr1:225599501-Variant-C;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Variant C ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg GCGTGCTAACGT CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgCttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAgcgtgctaacgtAGATCGAGACCCGACGC chr1:225599501-Variant-C;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Reference T ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg CGTTACTCTAAG CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgTttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAAcgttactctaagAGATCGAGACCCGACGC chr1:225599501-Reference-T;Patient-29 chr1:225599501-TC DeNovo Patient-29 intronic LBR NA 4.19e-05 -0.15 1 -1.09 LBR 17055 Alternative A ttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtg CTATCACTGGAA CGACGCGGTCTCTCTCTttttatattgaaatacttcaggtcagcatcaaccaatttgtaacctctcgAttctcttgttttttgtttgttttgttttgagatggagcctcgctctgtgAGAGGGAGACGGACGTCTCAATAActatcactggaaAGATCGAGACCCGACGC chr1:225599501-Alternative-A;Patient-29 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative A ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CTTGAGCTAAGA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAActtgagctaagaAGATCGAGACCCGACGC chr1:225652152-Alternative-A;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative T ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg ACTTAGTAGTCG CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAacttagtagtcgAGATCGAGACCCGACGC chr1:225652152-Alternative-T;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative A ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GCGAACACGTAC CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgcgaacacgtacAGATCGAGACCCGACGC chr1:225652152-Alternative-A;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Variant C ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GCGGTATGTCGT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgcggtatgtcgtAGATCGAGACCCGACGC chr1:225652152-Variant-C;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative A ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CAATTAGCGTGC CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAcaattagcgtgcAGATCGAGACCCGACGC chr1:225652152-Alternative-A;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Variant C ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CATTGCGAGTCG CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAcattgcgagtcgAGATCGAGACCCGACGC chr1:225652152-Variant-C;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Variant C ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GAATCGGCACCT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgaatcggcacctAGATCGAGACCCGACGC chr1:225652152-Variant-C;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative T ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GTTGGATGCGGT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgttggatgcggtAGATCGAGACCCGACGC chr1:225652152-Alternative-T;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative T ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GATGGTTGGTGG CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgatggttggtggAGATCGAGACCCGACGC chr1:225652152-Alternative-T;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative A ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GAGCTCGCTGAT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgagctcgctgatAGATCGAGACCCGACGC chr1:225652152-Alternative-A;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Variant C ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg AACGTAGGTGAT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAaacgtaggtgatAGATCGAGACCCGACGC chr1:225652152-Variant-C;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative T ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GACTGTCCGTCA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgactgtccgtcaAGATCGAGACCCGACGC chr1:225652152-Alternative-T;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative T ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg AGCATCGCGTGA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctTtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAagcatcgcgtgaAGATCGAGACCCGACGC chr1:225652152-Alternative-T;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Reference G ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CAGACAAGACCA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAcagacaagaccaAGATCGAGACCCGACGC chr1:225652152-Reference-G;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Variant C ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CTAACGCAGTCG CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctCtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAActaacgcagtcgAGATCGAGACCCGACGC chr1:225652152-Variant-C;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Reference G ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg ACGACTGGCGAT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAacgactggcgatAGATCGAGACCCGACGC chr1:225652152-Reference-G;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Alternative A ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CGCACGCATATC CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctAtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAcgcacgcatatcAGATCGAGACCCGACGC chr1:225652152-Alternative-A;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Reference G ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg CTAGCGGTCTGT CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAActagcggtctgtAGATCGAGACCCGACGC chr1:225652152-Reference-G;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Reference G ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg AGTCTAGCGTTA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAagtctagcgttaAGATCGAGACCCGACGC chr1:225652152-Reference-G;Patient-32 chr1:225652152-GC DeNovo Patient-32 intergenic NA 0.000512821 -0.35 0.25 -0.73 LBR 35594 Reference G ctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctgg GCACCACGTCAA CGACGCGGTCTCTCTCTctgtctctactaaaaatacaaaaattagccaggcatggtggcagacacctGtaattccagctactcaggaggctgaggcaggagaatagcttgaacctggAGAGGGAGACGGACGTCTCAATAAgcaccacgtcaaAGATCGAGACCCGACGC chr1:225652152-Reference-G;Patient-32 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Variant A tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata GTGTAGATGAGT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAgtgtagatgagtAGATCGAGACCCGACGC chr1:225798207-Variant-A;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Variant A tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata ACACCGTACATC CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAacaccgtacatcAGATCGAGACCCGACGC chr1:225798207-Variant-A;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative G tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata GGTTAGCGAACT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAggttagcgaactAGATCGAGACCCGACGC chr1:225798207-Alternative-G;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Variant A tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata ATCTTGCGCGAG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAatcttgcgcgagAGATCGAGACCCGACGC chr1:225798207-Variant-A;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Reference T tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AATGCGTCGCAG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAaatgcgtcgcagAGATCGAGACCCGACGC chr1:225798207-Reference-T;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Reference T tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata ATTGCTCGGTGG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAattgctcggtggAGATCGAGACCCGACGC chr1:225798207-Reference-T;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative C tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata GTGCTTCTAGCG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAgtgcttctagcgAGATCGAGACCCGACGC chr1:225798207-Alternative-C;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative C tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata CGATACGCAACC CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAcgatacgcaaccAGATCGAGACCCGACGC chr1:225798207-Alternative-C;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative G tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AAGATGCGTACT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAaagatgcgtactAGATCGAGACCCGACGC chr1:225798207-Alternative-G;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative C tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata CATCAACCAGCA CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAcatcaaccagcaAGATCGAGACCCGACGC chr1:225798207-Alternative-C;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Variant A tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AGCGTCCGGTAT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAagcgtccggtatAGATCGAGACCCGACGC chr1:225798207-Variant-A;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Reference T tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AGGCTAGCTCGT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAaggctagctcgtAGATCGAGACCCGACGC chr1:225798207-Reference-T;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative G tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata ACGACACCTTCT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAacgacaccttctAGATCGAGACCCGACGC chr1:225798207-Alternative-G;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Reference T tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AGCTTGCGTGCA CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAagcttgcgtgcaAGATCGAGACCCGACGC chr1:225798207-Reference-T;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Variant A tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata CATGACTCGACC CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaAtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAcatgactcgaccAGATCGAGACCCGACGC chr1:225798207-Variant-A;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Reference T tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata CTCTGCGACAAC CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaTtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAActctgcgacaacAGATCGAGACCCGACGC chr1:225798207-Reference-T;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative C tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata GGACATTACACT CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAggacattacactAGATCGAGACCCGACGC chr1:225798207-Alternative-C;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative C tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AACGATTGAAGG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaCtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAaacgattgaaggAGATCGAGACCCGACGC chr1:225798207-Alternative-C;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative G tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata ACGCGGTAGCTA CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAacgcggtagctaAGATCGAGACCCGACGC chr1:225798207-Alternative-G;Patient-34 chr1:225798207-TA DeNovo Patient-34 intronic ENAH NA 4.95e-05 -0.43 0.15 -3.84 ENAH 42637 Alternative G tactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcata AACCAAGGAACG CGACGCGGTCTCTCTCTtactcttaacatttggtaagaaaagaacgataggtccccagtaaaaaaaaGtcttttttttcccaagtatgcttgcatttcattcatcttaaacttcataAGAGGGAGACGGACGTCTCAATAAaaccaaggaacgAGATCGAGACCCGACGC chr1:225798207-Alternative-G;Patient-34 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Reference C tcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg ACGATGAACAAC CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAacgatgaacaacAGATCGAGACCCGACGC chr1:226551293-Reference-C;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative A tcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GTTCTATCGGAA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgttctatcggaaAGATCGAGACCCGACGC chr1:226551293-Alternative-A;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative A tcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GATAGAACGCCT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgatagaacgcctAGATCGAGACCCGACGC chr1:226551293-Alternative-A;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Reference C tcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg CTAATACCGCCA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAActaataccgccaAGATCGAGACCCGACGC chr1:226551293-Reference-C;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Variant T tcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GACAAGGTTCGG CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgacaaggttcggAGATCGAGACCCGACGC chr1:226551293-Variant-T;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Variant T tcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GACGATGAGTAT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgacgatgagtatAGATCGAGACCCGACGC chr1:226551293-Variant-T;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Variant T tcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg ATCGCTTATGAG CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAatcgcttatgagAGATCGAGACCCGACGC chr1:226551293-Variant-T;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative A tcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg AGCGTCCGACTA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAagcgtccgactaAGATCGAGACCCGACGC chr1:226551293-Alternative-A;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Variant T tcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GCGTTGGTTCGT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgcgttggttcgtAGATCGAGACCCGACGC chr1:226551293-Variant-T;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Variant T tcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GTGTAGCGAGCA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcTatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgtgtagcgagcaAGATCGAGACCCGACGC chr1:226551293-Variant-T;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative G tcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg ACTAACTGCGGT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAactaactgcggtAGATCGAGACCCGACGC chr1:226551293-Alternative-G;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative A tcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg AGTAACGTACAG CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAagtaacgtacagAGATCGAGACCCGACGC chr1:226551293-Alternative-A;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative G tcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GAGCATTCTGCA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgagcattctgcaAGATCGAGACCCGACGC chr1:226551293-Alternative-G;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative A tcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg ACGAACGATAGG CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcAatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAacgaacgataggAGATCGAGACCCGACGC chr1:226551293-Alternative-A;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative G tcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GGACGGTGATCA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAggacggtgatcaAGATCGAGACCCGACGC chr1:226551293-Alternative-G;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative G tcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg AACGTCTGCTAT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAaacgtctgctatAGATCGAGACCCGACGC chr1:226551293-Alternative-G;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Reference C tcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg GACGTATGACGG CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAgacgtatgacggAGATCGAGACCCGACGC chr1:226551293-Reference-C;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Alternative G tcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg AATGGACCATCA CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcGatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAaatggaccatcaAGATCGAGACCCGACGC chr1:226551293-Alternative-G;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Reference C tcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg CAAGGTACGCGT CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAcaaggtacgcgtAGATCGAGACCCGACGC chr1:226551293-Reference-C;Patient-1 chr1:226551293-CT DeNovo Patient-1 intronic PARP1 NA 4.95e-05 -0.25 0.52 -4.95 PARP1 44507 Reference C tcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcgg ATCCGAAGTCGC CGACGCGGTCTCTCTCTtcagatctttctctatggagaatctggaagtggaattaaaattccagttcCatttgggttggtctaagaaaactgaaacactggtgagtggaggaggcggAGAGGGAGACGGACGTCTCAATAAatccgaagtcgcAGATCGAGACCCGACGC chr1:226551293-Reference-C;Patient-1 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Reference T ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag CGCTCCATGAGT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAcgctccatgagtAGATCGAGACCCGACGC chr1:226590833-Reference-T;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Reference T ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ATCGTACGGTCG CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAatcgtacggtcgAGATCGAGACCCGACGC chr1:226590833-Reference-T;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Variant C ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ACCAACAATGAG CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAaccaacaatgagAGATCGAGACCCGACGC chr1:226590833-Variant-C;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Variant C ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GAGATCACGAGA CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAgagatcacgagaAGATCGAGACCCGACGC chr1:226590833-Variant-C;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative A ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag AAGATGCAGCTA CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAaagatgcagctaAGATCGAGACCCGACGC chr1:226590833-Alternative-A;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Reference T ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GCAACAAGCCAA CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAgcaacaagccaaAGATCGAGACCCGACGC chr1:226590833-Reference-T;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Variant C ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag AATCGTCGTAAC CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAaatcgtcgtaacAGATCGAGACCCGACGC chr1:226590833-Variant-C;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Variant C ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ATTAAGCGTCGT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAattaagcgtcgtAGATCGAGACCCGACGC chr1:226590833-Variant-C;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative A ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ACCGGCATCTTC CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAaccggcatcttcAGATCGAGACCCGACGC chr1:226590833-Alternative-A;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative A ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GGCGATCAGGTT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAggcgatcaggttAGATCGAGACCCGACGC chr1:226590833-Alternative-A;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Variant C ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag CGGACGTATCGT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtCtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAcggacgtatcgtAGATCGAGACCCGACGC chr1:226590833-Variant-C;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative A ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GGTACTGCCATC CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAggtactgccatcAGATCGAGACCCGACGC chr1:226590833-Alternative-A;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative A ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ACGCGATATGTT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtAtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAacgcgatatgttAGATCGAGACCCGACGC chr1:226590833-Alternative-A;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Reference T ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GTCTCCACGTAC CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAgtctccacgtacAGATCGAGACCCGACGC chr1:226590833-Reference-T;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative G ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ATAGATACGCGA CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAatagatacgcgaAGATCGAGACCCGACGC chr1:226590833-Alternative-G;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative G ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag CGACGCGTAAGA CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAcgacgcgtaagaAGATCGAGACCCGACGC chr1:226590833-Alternative-G;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative G ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ACATGAATCCGT CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAacatgaatccgtAGATCGAGACCCGACGC chr1:226590833-Alternative-G;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative G ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag ACTACGGACGAG CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAactacggacgagAGATCGAGACCCGACGC chr1:226590833-Alternative-G;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Reference T ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag GAGATGGTCAAG CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtTtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAgagatggtcaagAGATCGAGACCCGACGC chr1:226590833-Reference-T;Patient-14 chr1:226590833-TC DeNovo Patient-14 intronic PARP1 NA 4.95e-05 0.21 5.94 -1.43 PARP1 4967 Alternative G ggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccag CGTACTCGTACC CGACGCGGTCTCTCTCTggacctgagaagtctggccacagggaacacagttcccctctccaggtggtGtgcttcccactaggcctttcattgtgacagggtcaggttctgctcccagAGAGGGAGACGGACGTCTCAATAAcgtactcgtaccAGATCGAGACCCGACGC chr1:226590833-Alternative-G;Patient-14 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative G ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTCAATAGCTGT CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgtcaatagctgtAGATCGAGACCCGACGC chr1:226829262-Alternative-G;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative G ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GGATATTCACCA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAggatattcaccaAGATCGAGACCCGACGC chr1:226829262-Alternative-G;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Reference T ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg AGAATCGAGAAG CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAagaatcgagaagAGATCGAGACCCGACGC chr1:226829262-Reference-T;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative G ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTGTTGAGTACT CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgtgttgagtactAGATCGAGACCCGACGC chr1:226829262-Alternative-G;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative G ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg CGGATCGGAACA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAcggatcggaacaAGATCGAGACCCGACGC chr1:226829262-Alternative-G;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative G ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg CTGGCGTTCTTC CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcGgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAActggcgttcttcAGATCGAGACCCGACGC chr1:226829262-Alternative-G;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Reference T ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTGTTCTACGAA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgtgttctacgaaAGATCGAGACCCGACGC chr1:226829262-Reference-T;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Reference T ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg ATAAGGTTCGAG CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAataaggttcgagAGATCGAGACCCGACGC chr1:226829262-Reference-T;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Reference T ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTCAGCCGAACT CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgtcagccgaactAGATCGAGACCCGACGC chr1:226829262-Reference-T;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Reference T ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg ACACGAGCCAAC CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcTgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAacacgagccaacAGATCGAGACCCGACGC chr1:226829262-Reference-T;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Variant C ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg CTGAAGACGACG CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAActgaagacgacgAGATCGAGACCCGACGC chr1:226829262-Variant-C;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Variant C ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GAATCTCATCGA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgaatctcatcgaAGATCGAGACCCGACGC chr1:226829262-Variant-C;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative A ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg CGGATAGTGCAC CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAcggatagtgcacAGATCGAGACCCGACGC chr1:226829262-Alternative-A;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative A ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg ATTGCTTGATCG CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAattgcttgatcgAGATCGAGACCCGACGC chr1:226829262-Alternative-A;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative A ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg ATCGTACGTATC CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAatcgtacgtatcAGATCGAGACCCGACGC chr1:226829262-Alternative-A;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Variant C ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GCATGCGAATTA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgcatgcgaattaAGATCGAGACCCGACGC chr1:226829262-Variant-C;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative A ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg ACCTATAAGCGT CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAacctataagcgtAGATCGAGACCCGACGC chr1:226829262-Alternative-A;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Alternative A ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTTGTTCTAGTC CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcAgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgttgttctagtcAGATCGAGACCCGACGC chr1:226829262-Alternative-A;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Variant C ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg GTGGCGTTATAA CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAgtggcgttataaAGATCGAGACCCGACGC chr1:226829262-Variant-C;Patient-66 chr1:226829262-TC DeNovo Patient-66 intronic ITPKB NA 4.95e-05 -0.26 0.48 -4.12 ITPKB 97613 Variant C ggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacagg AACGTGAAGCGG CGACGCGGTCTCTCTCTggctccaacatcaaaggcggtcagcatgctcctcccttccccgaattgtcCgccagtcccagtttgcagccatggcagaatgaaccagctaccccacaggAGAGGGAGACGGACGTCTCAATAAaacgtgaagcggAGATCGAGACCCGACGC chr1:226829262-Variant-C;Patient-66 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Reference T caagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtct AGTGAATAGCGG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAagtgaatagcggAGATCGAGACCCGACGC chr1:226958629-Reference-T;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative G caagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GGCTACAACATA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAggctacaacataAGATCGAGACCCGACGC chr1:226958629-Alternative-G;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative G caagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtct CAAGAGCACGTC CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAcaagagcacgtcAGATCGAGACCCGACGC chr1:226958629-Alternative-G;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative G caagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GCATACGCGTAC CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAgcatacgcgtacAGATCGAGACCCGACGC chr1:226958629-Alternative-G;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative G caagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtct ACACGTACGGAT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAacacgtacggatAGATCGAGACCCGACGC chr1:226958629-Alternative-G;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Reference T caagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GCGAGTTACGAG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAgcgagttacgagAGATCGAGACCCGACGC chr1:226958629-Reference-T;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Reference T caagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtct AGAGTTGCGAGA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAagagttgcgagaAGATCGAGACCCGACGC chr1:226958629-Reference-T;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Reference T caagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtct CTTACGGTGACG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAActtacggtgacgAGATCGAGACCCGACGC chr1:226958629-Reference-T;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Variant C caagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtct ACTGCGCTGACT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAactgcgctgactAGATCGAGACCCGACGC chr1:226958629-Variant-C;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative A caagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtct AGTCGTAGTGAA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAagtcgtagtgaaAGATCGAGACCCGACGC chr1:226958629-Alternative-A;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative A caagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtct CATAGGCATTGT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAcataggcattgtAGATCGAGACCCGACGC chr1:226958629-Alternative-A;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative A caagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtct AACACGCATCTT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAaacacgcatcttAGATCGAGACCCGACGC chr1:226958629-Alternative-A;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative G caagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtct ATCCGATACGAT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttGttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAatccgatacgatAGATCGAGACCCGACGC chr1:226958629-Alternative-G;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Reference T caagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtct CAAGCCGTAATA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttTttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAcaagccgtaataAGATCGAGACCCGACGC chr1:226958629-Reference-T;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Variant C caagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtct CGCCAGAAGCTT CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAcgccagaagcttAGATCGAGACCCGACGC chr1:226958629-Variant-C;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative A caagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GTACACGCTTAA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAgtacacgcttaaAGATCGAGACCCGACGC chr1:226958629-Alternative-A;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Alternative A caagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtct ACCGTAGTAAGA CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttAttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAaccgtagtaagaAGATCGAGACCCGACGC chr1:226958629-Alternative-A;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Variant C caagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GGCGTAGATGAG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAggcgtagatgagAGATCGAGACCCGACGC chr1:226958629-Variant-C;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Variant C caagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtct GAATTACGGCGG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAgaattacggcggAGATCGAGACCCGACGC chr1:226958629-Variant-C;Patient-37 chr1:226958629-TC Inherited Patient-37 intergenic NA 0.000513 -0.28 0.42 -0.45 ITPKB 31752 Variant C caagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtct AATGCTCGGTCG CGACGCGGTCTCTCTCTcaagtagctgggattacagacgtgcgcagccaccccacccggctaattttCttgtatttttacaagagacagggtttcaccatgttggctaggctggtctAGAGGGAGACGGACGTCTCAATAAaatgctcggtcgAGATCGAGACCCGACGC chr1:226958629-Variant-C;Patient-37 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Reference G tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGATCGGAGTAC CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgatcggagtacAGATCGAGACCCGACGC chr1:227148125-Reference-G;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative T tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GTCAAGCCAATT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAgtcaagccaattAGATCGAGACCCGACGC chr1:227148125-Alternative-T;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Reference G tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt ACAAGGTAGTAC CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAacaaggtagtacAGATCGAGACCCGACGC chr1:227148125-Reference-G;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Reference G tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGCTTGCGATAC CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgcttgcgatacAGATCGAGACCCGACGC chr1:227148125-Reference-G;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative T tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GTGCGCATTCGA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAgtgcgcattcgaAGATCGAGACCCGACGC chr1:227148125-Alternative-T;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Reference G tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGTCCTTATGAT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgtccttatgatAGATCGAGACCCGACGC chr1:227148125-Reference-G;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative T tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GCGCACGAAGTT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAgcgcacgaagttAGATCGAGACCCGACGC chr1:227148125-Alternative-T;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative A tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGACAATTGGAA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgacaattggaaAGATCGAGACCCGACGC chr1:227148125-Alternative-A;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Reference G tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GGTTGCGTCGAT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgGtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAggttgcgtcgatAGATCGAGACCCGACGC chr1:227148125-Reference-G;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Variant C tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt AAGCGCATCACT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAaagcgcatcactAGATCGAGACCCGACGC chr1:227148125-Variant-C;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Variant C tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGTCACGGAACT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgtcacggaactAGATCGAGACCCGACGC chr1:227148125-Variant-C;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative T tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt AAGTCTCTCGTT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAaagtctctcgttAGATCGAGACCCGACGC chr1:227148125-Alternative-T;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative A tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GTACGAGCACGT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAgtacgagcacgtAGATCGAGACCCGACGC chr1:227148125-Alternative-A;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative A tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt AAGCATACGCAA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAaagcatacgcaaAGATCGAGACCCGACGC chr1:227148125-Alternative-A;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative T tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt GCCAATTGCCTA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgTtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAgccaattgcctaAGATCGAGACCCGACGC chr1:227148125-Alternative-T;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative A tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CAGCAGCGTCAT CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcagcagcgtcatAGATCGAGACCCGACGC chr1:227148125-Alternative-A;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Variant C tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt ACCTTATGCCAA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAaccttatgccaaAGATCGAGACCCGACGC chr1:227148125-Variant-C;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Variant C tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt AGTGTAACAGCA CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAagtgtaacagcaAGATCGAGACCCGACGC chr1:227148125-Variant-C;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Alternative A tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt ACCGTGAAGTCG CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgAtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAaccgtgaagtcgAGATCGAGACCCGACGC chr1:227148125-Alternative-A;Patient-89 chr1:227148125-GC DeNovo Patient-89 intronic COQ8A NA 0.000101 -0.05 1.91 0 COQ8A 20186 Variant C tggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggt CGACGGAGATAC CGACGCGGTCTCTCTCTtggtacttggtggtgtcagtggtggtacttggtggtggcggtggtacttgCtggtggtacttggtggtacttggtggtggtggcagtacttggtggtggtAGAGGGAGACGGACGTCTCAATAAcgacggagatacAGATCGAGACCCGACGC chr1:227148125-Variant-C;Patient-89 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative A gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CTCAAGTTCCGG CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAActcaagttccggAGATCGAGACCCGACGC chr1:228101495-Alternative-A;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Reference C gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CGCTAGTACTAT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcgctagtactatAGATCGAGACCCGACGC chr1:228101495-Reference-C;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Reference C gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca ATATGCGCAGTT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAatatgcgcagttAGATCGAGACCCGACGC chr1:228101495-Reference-C;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Reference C gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca AACTCCACGCGT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAaactccacgcgtAGATCGAGACCCGACGC chr1:228101495-Reference-C;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Reference C gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CGTACTCAATCG CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcgtactcaatcgAGATCGAGACCCGACGC chr1:228101495-Reference-C;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative A gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CACACGTTGCCT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcacacgttgcctAGATCGAGACCCGACGC chr1:228101495-Alternative-A;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative G gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca AGTTGGCATCGC CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAagttggcatcgcAGATCGAGACCCGACGC chr1:228101495-Alternative-G;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative A gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca GTATCGTAGCAT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAgtatcgtagcatAGATCGAGACCCGACGC chr1:228101495-Alternative-A;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Variant T gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca ATCCGAAGATCG CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAatccgaagatcgAGATCGAGACCCGACGC chr1:228101495-Variant-T;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Variant T gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CTACGAGTGATA CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAActacgagtgataAGATCGAGACCCGACGC chr1:228101495-Variant-T;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative A gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca ACCACGAAGTAT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAaccacgaagtatAGATCGAGACCCGACGC chr1:228101495-Alternative-A;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative G gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CGTGCAACTGGT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcgtgcaactggtAGATCGAGACCCGACGC chr1:228101495-Alternative-G;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Variant T gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CGTAGTAGTGTT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcgtagtagtgttAGATCGAGACCCGACGC chr1:228101495-Variant-T;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Reference C gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca GGTAGGCGGTTA CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccCgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAggtaggcggttaAGATCGAGACCCGACGC chr1:228101495-Reference-C;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative G gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CTCATACCAACC CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAActcataccaaccAGATCGAGACCCGACGC chr1:228101495-Alternative-G;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative G gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CAGGATTCACCA CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcaggattcaccaAGATCGAGACCCGACGC chr1:228101495-Alternative-G;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative G gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CACGCTGTATCG CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccGgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAcacgctgtatcgAGATCGAGACCCGACGC chr1:228101495-Alternative-G;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Alternative A gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca CTCACAACCGCA CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccAgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAActcacaaccgcaAGATCGAGACCCGACGC chr1:228101495-Alternative-A;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Variant T gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca AGTAGTACCGAT CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAagtagtaccgatAGATCGAGACCCGACGC chr1:228101495-Variant-T;Patient-70 chr1:228101495-CT Inherited Patient-70 intergenic 0.000796 0.00205 -0.33 0.29 -0.47 WNT9A 34180 Variant T gtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagca ATACGTCGTGCA CGACGCGGTCTCTCTCTgtgaatcctggtgcaggatgctgggcgccatggcagaccctcaggcatccTgtgacccctgtgtcccaggttcctgccctgacctgcttcctgcccagcaAGAGGGAGACGGACGTCTCAATAAatacgtcgtgcaAGATCGAGACCCGACGC chr1:228101495-Variant-T;Patient-70 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Variant T taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CAACCAAGGACG CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAcaaccaaggacgAGATCGAGACCCGACGC chr1:228217958-Variant-T;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Variant T taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag ACACGTTACGCA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAacacgttacgcaAGATCGAGACCCGACGC chr1:228217958-Variant-T;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Variant T taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CTAACTCGCGAT CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAActaactcgcgatAGATCGAGACCCGACGC chr1:228217958-Variant-T;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Reference G taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CTCATTGACCGC CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAActcattgaccgcAGATCGAGACCCGACGC chr1:228217958-Reference-G;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Variant T taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GTCGACTTGATA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgtcgacttgataAGATCGAGACCCGACGC chr1:228217958-Variant-T;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative A taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CTAGTCATAAGG CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAActagtcataaggAGATCGAGACCCGACGC chr1:228217958-Alternative-A;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative C taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag AACGAGCATTCT CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAaacgagcattctAGATCGAGACCCGACGC chr1:228217958-Alternative-C;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Variant T taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag AGACCACACCAC CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggTgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAagaccacaccacAGATCGAGACCCGACGC chr1:228217958-Variant-T;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Reference G taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GCAGACGTTGCT CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgcagacgttgctAGATCGAGACCCGACGC chr1:228217958-Reference-G;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative A taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GCATCGGCTAAC CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgcatcggctaacAGATCGAGACCCGACGC chr1:228217958-Alternative-A;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative A taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag ATCGGTTATCGA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAatcggttatcgaAGATCGAGACCCGACGC chr1:228217958-Alternative-A;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Reference G taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CGGAGCTAGGTT CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAcggagctaggttAGATCGAGACCCGACGC chr1:228217958-Reference-G;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative C taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag ACGCCGTATCCA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAacgccgtatccaAGATCGAGACCCGACGC chr1:228217958-Alternative-C;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative A taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag ACGTGCTCACGA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAacgtgctcacgaAGATCGAGACCCGACGC chr1:228217958-Alternative-A;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Reference G taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag ATCGACGCATTA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAatcgacgcattaAGATCGAGACCCGACGC chr1:228217958-Reference-G;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative A taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GAGTAGTAGGTT CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggAgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgagtagtaggttAGATCGAGACCCGACGC chr1:228217958-Alternative-A;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative C taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GTGTAGCGCCTA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgtgtagcgcctaAGATCGAGACCCGACGC chr1:228217958-Alternative-C;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative C taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CAGCGGTACAAG CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAcagcggtacaagAGATCGAGACCCGACGC chr1:228217958-Alternative-C;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Alternative C taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag GATAGTCGATGA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggCgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAgatagtcgatgaAGATCGAGACCCGACGC chr1:228217958-Alternative-C;Patient-35 chr1:228217958-GT DeNovo Patient-35 intronic WNT3A NA 9.9e-05 -0.53 0.07 -0.39 WNT3A 23234 Reference G taacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgag CATTGAAGACGA CGACGCGGTCTCTCTCTtaacatggtgaaaccctgcctctactaaaatacaaaaaaattagccaaggGgggtggtgggcatctgtaatcccagctagtcgggaggctgaggcacgagAGAGGGAGACGGACGTCTCAATAAcattgaagacgaAGATCGAGACCCGACGC chr1:228217958-Reference-G;Patient-35 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative T taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AGTTAGGCCAAT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAagttaggccaatAGATCGAGACCCGACGC chr1:229432952-Alternative-T;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative T taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AATACGCCAGTC CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAaatacgccagtcAGATCGAGACCCGACGC chr1:229432952-Alternative-T;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative T taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg GTCAATACGTCA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAgtcaatacgtcaAGATCGAGACCCGACGC chr1:229432952-Alternative-T;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Variant G taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AGACGACTTGAA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAagacgacttgaaAGATCGAGACCCGACGC chr1:229432952-Variant-G;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative C taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg CGGCGGTATCAA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAcggcggtatcaaAGATCGAGACCCGACGC chr1:229432952-Alternative-C;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Reference A taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg CACAGGTCGCAT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAcacaggtcgcatAGATCGAGACCCGACGC chr1:229432952-Reference-A;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Variant G taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ACAGAGGTGATT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAacagaggtgattAGATCGAGACCCGACGC chr1:229432952-Variant-G;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative C taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ACTCTCACTTGA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAactctcacttgaAGATCGAGACCCGACGC chr1:229432952-Alternative-C;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Reference A taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg GGTCTTCGTAAT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAggtcttcgtaatAGATCGAGACCCGACGC chr1:229432952-Reference-A;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative C taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AGACCAAGTAAC CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAagaccaagtaacAGATCGAGACCCGACGC chr1:229432952-Alternative-C;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative C taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AGTTCCGGATGG CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAagttccggatggAGATCGAGACCCGACGC chr1:229432952-Alternative-C;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative C taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ATCTTGTCTCGA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcCattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAatcttgtctcgaAGATCGAGACCCGACGC chr1:229432952-Alternative-C;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative T taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AAGTGTCCGCGT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAaagtgtccgcgtAGATCGAGACCCGACGC chr1:229432952-Alternative-T;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Reference A taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ATCCGGCAACGT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAatccggcaacgtAGATCGAGACCCGACGC chr1:229432952-Reference-A;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Alternative T taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg GGAATTCGTGTT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcTattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAggaattcgtgttAGATCGAGACCCGACGC chr1:229432952-Alternative-T;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Reference A taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ATCCTATTCGAC CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAatcctattcgacAGATCGAGACCCGACGC chr1:229432952-Reference-A;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Variant G taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg CTCGTGCTCCAA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAActcgtgctccaaAGATCGAGACCCGACGC chr1:229432952-Variant-G;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Variant G taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg ACGTAAGTCAGT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAacgtaagtcagtAGATCGAGACCCGACGC chr1:229432952-Variant-G;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Variant G taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg CGTAGTGGTACA CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcGattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAcgtagtggtacaAGATCGAGACCCGACGC chr1:229432952-Variant-G;Patient-24 chr1:229432952-AG Inherited Patient-24 intronic RAB4A 0.000509 0.000643 0.13 4.69 -0.63 RAB4A 26142 Reference A taccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacg AGACGCGGACTT CGACGCGGTCTCTCTCTtaccagagtctagtgccttgcgcatgctaagagctcaatagatatttgtcAattgaatgaaggaacatctctttccttttgccccatgactgggcaaacgAGAGGGAGACGGACGTCTCAATAAagacgcggacttAGATCGAGACCCGACGC chr1:229432952-Reference-A;Patient-24 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Variant A tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GTAATTCGATCG CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAgtaattcgatcgAGATCGAGACCCGACGC chr1:229697013-Variant-A;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Variant A tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AGCATGCGTCCA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAagcatgcgtccaAGATCGAGACCCGACGC chr1:229697013-Variant-A;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative G tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AACGGCGTAATA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAaacggcgtaataAGATCGAGACCCGACGC chr1:229697013-Alternative-G;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Variant A tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GGCAATCGATCA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAggcaatcgatcaAGATCGAGACCCGACGC chr1:229697013-Variant-A;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative T tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc CGTTCTGCGGAT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAcgttctgcggatAGATCGAGACCCGACGC chr1:229697013-Alternative-T;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Reference C tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AGGCCAACAGCT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAaggccaacagctAGATCGAGACCCGACGC chr1:229697013-Reference-C;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Reference C tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GTGAACCGTGCT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAgtgaaccgtgctAGATCGAGACCCGACGC chr1:229697013-Reference-C;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative G tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GACCTACCGAAG CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAgacctaccgaagAGATCGAGACCCGACGC chr1:229697013-Alternative-G;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative T tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc CACGGATCATAT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAcacggatcatatAGATCGAGACCCGACGC chr1:229697013-Alternative-T;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative T tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AATCGGCTACGG CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAaatcggctacggAGATCGAGACCCGACGC chr1:229697013-Alternative-T;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative T tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc CTCTAACATGCT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAActctaacatgctAGATCGAGACCCGACGC chr1:229697013-Alternative-T;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative T tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AAGACGTTCCGG CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaTtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAaagacgttccggAGATCGAGACCCGACGC chr1:229697013-Alternative-T;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative G tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc CTCGTCTATTGA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAActcgtctattgaAGATCGAGACCCGACGC chr1:229697013-Alternative-G;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative G tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc ATCGCGGTTCCA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAatcgcggttccaAGATCGAGACCCGACGC chr1:229697013-Alternative-G;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Alternative G tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GTACACGCAATT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaGtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAgtacacgcaattAGATCGAGACCCGACGC chr1:229697013-Alternative-G;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Reference C tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AGTCATACGAGT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAagtcatacgagtAGATCGAGACCCGACGC chr1:229697013-Reference-C;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Variant A tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc CGCTAATCGACG CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAcgctaatcgacgAGATCGAGACCCGACGC chr1:229697013-Variant-A;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Reference C tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc GATGGTGGACGT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAgatggtggacgtAGATCGAGACCCGACGC chr1:229697013-Reference-C;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Variant A tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc ACAGCTAGCCTT CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaAtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAacagctagccttAGATCGAGACCCGACGC chr1:229697013-Variant-A;Patient-37 chr1:229697013-CA Inherited Patient-37 intergenic 0.000193 0.000513 -0.06 1.83 0.98 ABCB10 2570 Reference C tcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgc AGCGGCTGTAGA CGACGCGGTCTCTCTCTtcttaaacccagaggacatggagtctcgcctccctacccccgcccccccaCtttcctgcccccagggtgacgacaattcaagctagtttctcatcagtgcAGAGGGAGACGGACGTCTCAATAAagcggctgtagaAGATCGAGACCCGACGC chr1:229697013-Reference-C;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Reference G ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg AGGAACATGTCA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAaggaacatgtcaAGATCGAGACCCGACGC chr1:230219085-Reference-G;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Reference G ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg CTCTTACAACGC CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAActcttacaacgcAGATCGAGACCCGACGC chr1:230219085-Reference-G;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Reference G ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg AGACGTAACAAC CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAagacgtaacaacAGATCGAGACCCGACGC chr1:230219085-Reference-G;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Reference G ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg AGACGAAGTCGA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAagacgaagtcgaAGATCGAGACCCGACGC chr1:230219085-Reference-G;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Reference G ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg ACGCAACGCAAT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaGgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAacgcaacgcaatAGATCGAGACCCGACGC chr1:230219085-Reference-G;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative T ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg ACCTAGCGAACC CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAacctagcgaaccAGATCGAGACCCGACGC chr1:230219085-Alternative-T;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative T ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GGTTGGACGTCT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAggttggacgtctAGATCGAGACCCGACGC chr1:230219085-Alternative-T;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative T ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg ACTCTAACTCGG CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAactctaactcggAGATCGAGACCCGACGC chr1:230219085-Alternative-T;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative T ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg AGACGTACGTGG CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAagacgtacgtggAGATCGAGACCCGACGC chr1:230219085-Alternative-T;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Variant C ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg ACTTCCTAATCG CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAacttcctaatcgAGATCGAGACCCGACGC chr1:230219085-Variant-C;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative A ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GTAAGTCCGCGT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAgtaagtccgcgtAGATCGAGACCCGACGC chr1:230219085-Alternative-A;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative A ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GACTGTACGTAA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAgactgtacgtaaAGATCGAGACCCGACGC chr1:230219085-Alternative-A;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative T ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GGCGTGTTGAGA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaTgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAggcgtgttgagaAGATCGAGACCCGACGC chr1:230219085-Alternative-T;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative A ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg ACACGCGCGAAT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAacacgcgcgaatAGATCGAGACCCGACGC chr1:230219085-Alternative-A;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative A ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GACATCGGAACG CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAgacatcggaacgAGATCGAGACCCGACGC chr1:230219085-Alternative-A;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Variant C ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GGTTAACTACGT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAggttaactacgtAGATCGAGACCCGACGC chr1:230219085-Variant-C;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Variant C ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg GAGACTCGGCAA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAgagactcggcaaAGATCGAGACCCGACGC chr1:230219085-Variant-C;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Alternative A ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg CTCAATTAGCCA CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaAgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAActcaattagccaAGATCGAGACCCGACGC chr1:230219085-Alternative-A;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Variant C ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg CGGCTGGTACAT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAcggctggtacatAGATCGAGACCCGACGC chr1:230219085-Variant-C;Patient-37 chr1:230219085-GC Inherited Patient-37 intronic GALNT2 NA 4.95e-05 -0.11 1.32 0.43 GALNT2 16128 Variant C ttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtg AGCGTAATTCGT CGACGCGGTCTCTCTCTttggagcaggcagccaggatgatggagtggggagcgaggatgatggagcaCgggagccgggatgagggagcaggcagctgggatgacggagcagggagtgAGAGGGAGACGGACGTCTCAATAAagcgtaattcgtAGATCGAGACCCGACGC chr1:230219085-Variant-C;Patient-37 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative T ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccacttt ACCTAGATGCAG CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAacctagatgcagAGATCGAGACCCGACGC chr1:231619903-Alternative-T;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative T ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccacttt GGTTAGGACGAG CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAggttaggacgagAGATCGAGACCCGACGC chr1:231619903-Alternative-T;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative T ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccacttt GACCTCGGATGT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgacctcggatgtAGATCGAGACCCGACGC chr1:231619903-Alternative-T;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative G ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccacttt CATTAGGCTCTT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAcattaggctcttAGATCGAGACCCGACGC chr1:231619903-Alternative-G;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative T ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccacttt AATACGTTCTGG CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAaatacgttctggAGATCGAGACCCGACGC chr1:231619903-Alternative-T;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Variant A ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccacttt ATCGTGCCGTAC CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAatcgtgccgtacAGATCGAGACCCGACGC chr1:231619903-Variant-A;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Variant A ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccacttt AGTGCGCGATTA CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAagtgcgcgattaAGATCGAGACCCGACGC chr1:231619903-Variant-A;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Variant A ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccacttt ACGATACTTACG CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAacgatacttacgAGATCGAGACCCGACGC chr1:231619903-Variant-A;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative T ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccacttt ACGCCGCATCAA CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatTtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAacgccgcatcaaAGATCGAGACCCGACGC chr1:231619903-Alternative-T;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Variant A ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccacttt CGACTGCGACAT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAcgactgcgacatAGATCGAGACCCGACGC chr1:231619903-Variant-A;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Reference C ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccacttt GTATTCCGAGCG CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgtattccgagcgAGATCGAGACCCGACGC chr1:231619903-Reference-C;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Variant A ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccacttt GTATCGAAGACA CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatAtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgtatcgaagacaAGATCGAGACCCGACGC chr1:231619903-Variant-A;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Reference C ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccacttt GCAAGTAAGTGT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgcaagtaagtgtAGATCGAGACCCGACGC chr1:231619903-Reference-C;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative G ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccacttt ACTCCACAAGAT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAactccacaagatAGATCGAGACCCGACGC chr1:231619903-Alternative-G;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Reference C ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccacttt AGGACACACGAC CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAaggacacacgacAGATCGAGACCCGACGC chr1:231619903-Reference-C;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Reference C ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccacttt CGCTTCAATCAT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAcgcttcaatcatAGATCGAGACCCGACGC chr1:231619903-Reference-C;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Reference C ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccacttt CAGGACCGATAC CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatCtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAcaggaccgatacAGATCGAGACCCGACGC chr1:231619903-Reference-C;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative G ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccacttt ACCTTGGTCACT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAaccttggtcactAGATCGAGACCCGACGC chr1:231619903-Alternative-G;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative G ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccacttt GATTCGGCTATA CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgattcggctataAGATCGAGACCCGACGC chr1:231619903-Alternative-G;Patient-91 chr1:231619903-CA Inherited Patient-91 intergenic 0.000765 0.000513 0.03 3.03 1.37 TSNAX 44495 Alternative G ccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccacttt GCATACCGTAAT CGACGCGGTCTCTCTCTccagggagagtacagttaagttaaatatgaaacttgttgctatacataatGtttttgcccaagtgacactgatacacttttttccataaccttccactttAGAGGGAGACGGACGTCTCAATAAgcataccgtaatAGATCGAGACCCGACGC chr1:231619903-Alternative-G;Patient-91 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative C ggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GCAGCATCCAAC CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAgcagcatccaacAGATCGAGACCCGACGC chr1:232986601-Alternative-C;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Variant G ggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag CAGAGCGATAAT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAcagagcgataatAGATCGAGACCCGACGC chr1:232986601-Variant-G;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative C ggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag CGTTAGAAGCGA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAcgttagaagcgaAGATCGAGACCCGACGC chr1:232986601-Alternative-C;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Variant G ggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag AGCAGTGTCTAT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAagcagtgtctatAGATCGAGACCCGACGC chr1:232986601-Variant-G;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative T ggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GGTGACTCTAAT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAggtgactctaatAGATCGAGACCCGACGC chr1:232986601-Alternative-T;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative T ggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag ATTCATTCTCGG CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAattcattctcggAGATCGAGACCCGACGC chr1:232986601-Alternative-T;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative T ggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag ATCTCGCGTAAT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAatctcgcgtaatAGATCGAGACCCGACGC chr1:232986601-Alternative-T;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative C ggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GAGTCCGACGAA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAgagtccgacgaaAGATCGAGACCCGACGC chr1:232986601-Alternative-C;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative C ggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag AACGCTAGACAT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAaacgctagacatAGATCGAGACCCGACGC chr1:232986601-Alternative-C;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative T ggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GACCTTGGTAAG CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAgaccttggtaagAGATCGAGACCCGACGC chr1:232986601-Alternative-T;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Variant G ggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag AAGCAGCGGTAC CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAaagcagcggtacAGATCGAGACCCGACGC chr1:232986601-Variant-G;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Reference A ggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag ATCAAGGCGGCA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAatcaaggcggcaAGATCGAGACCCGACGC chr1:232986601-Reference-A;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Variant G ggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag CGGCATACCAAC CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAcggcataccaacAGATCGAGACCCGACGC chr1:232986601-Variant-G;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative T ggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GCGTGTTACAGT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccTttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAgcgtgttacagtAGATCGAGACCCGACGC chr1:232986601-Alternative-T;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Variant G ggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag CGCTACTAAGGT CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccGttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAcgctactaaggtAGATCGAGACCCGACGC chr1:232986601-Variant-G;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Alternative C ggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag AGAGTAGCCAAG CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccCttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAagagtagccaagAGATCGAGACCCGACGC chr1:232986601-Alternative-C;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Reference A ggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GGTACGCGAGAA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAggtacgcgagaaAGATCGAGACCCGACGC chr1:232986601-Reference-A;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Reference A ggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag ACAGCAGTACGC CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAacagcagtacgcAGATCGAGACCCGACGC chr1:232986601-Reference-A;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Reference A ggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag AACAACGCGGCA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAaacaacgcggcaAGATCGAGACCCGACGC chr1:232986601-Reference-A;Patient-54 chr1:232986601-AG Inherited Patient-54 intergenic 0.000701 0.00154 0.01 2.83 0.92 MAP10 45962 Reference A ggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtag GTAGAGCTCTTA CGACGCGGTCTCTCTCTggaagttgtcttttatacctagtttttcggtatttttattattataagccAttgtattttgtcaaaaaatatttctgtttctatggagatgatcatgtagAGAGGGAGACGGACGTCTCAATAAgtagagctcttaAGATCGAGACCCGACGC chr1:232986601-Reference-A;Patient-54 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative C ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CAAGCAGGACAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAcaagcaggacatAGATCGAGACCCGACGC chr1:233089236-Alternative-C;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative C ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat GTACGCAGATCG CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAgtacgcagatcgAGATCGAGACCCGACGC chr1:233089236-Alternative-C;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative C ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat AGGACTCATAAC CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAaggactcataacAGATCGAGACCCGACGC chr1:233089236-Alternative-C;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative C ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat AGACGAGCTAAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAagacgagctaatAGATCGAGACCCGACGC chr1:233089236-Alternative-C;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative C ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CGGTCGGAATGT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacCgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAcggtcggaatgtAGATCGAGACCCGACGC chr1:233089236-Alternative-C;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative T ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat GTGTTCGTAGAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAgtgttcgtagatAGATCGAGACCCGACGC chr1:233089236-Alternative-T;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Variant G ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat GAGTCTCTGAGT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAgagtctctgagtAGATCGAGACCCGACGC chr1:233089236-Variant-G;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative T ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat ACCGTGACATAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAaccgtgacatatAGATCGAGACCCGACGC chr1:233089236-Alternative-T;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Variant G ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat GTTAGGAGCGGT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAgttaggagcggtAGATCGAGACCCGACGC chr1:233089236-Variant-G;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative T ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat ATCAACGATGAG CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAatcaacgatgagAGATCGAGACCCGACGC chr1:233089236-Alternative-T;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Variant G ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat ACATCTTCCTGA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAacatcttcctgaAGATCGAGACCCGACGC chr1:233089236-Variant-G;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative T ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CTCATTGCGCGA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAActcattgcgcgaAGATCGAGACCCGACGC chr1:233089236-Alternative-T;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Variant G ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CGTAGCATCTGG CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAcgtagcatctggAGATCGAGACCCGACGC chr1:233089236-Variant-G;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Variant G ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat ACATAGCTGGAA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacGgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAacatagctggaaAGATCGAGACCCGACGC chr1:233089236-Variant-G;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Reference A ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat ACCGAGTAGCTA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAaccgagtagctaAGATCGAGACCCGACGC chr1:233089236-Reference-A;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Alternative T ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat AGCTGACGCAAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacTgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAagctgacgcaatAGATCGAGACCCGACGC chr1:233089236-Alternative-T;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Reference A ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CGTGGAATGTCA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAcgtggaatgtcaAGATCGAGACCCGACGC chr1:233089236-Reference-A;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Reference A ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CTCTCGCTCGAA CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAActctcgctcgaaAGATCGAGACCCGACGC chr1:233089236-Reference-A;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Reference A ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat CGGAAGACGTTC CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAcggaagacgttcAGATCGAGACCCGACGC chr1:233089236-Reference-A;Patient-40 chr1:233089236-AG DeNovo Patient-40 intronic NTPCR 0.000605 0.000247 -0.25 0.51 -2.82 NTPCR 2865 Reference A ttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccat AGGCGATCTTAT CGACGCGGTCTCTCTCTttgcccaaatgcttcctatttattgctctactatgttctacacaacatacAgtccccacagtataccctttgtgaacaggaatagttaccgttgctccatAGAGGGAGACGGACGTCTCAATAAaggcgatcttatAGATCGAGACCCGACGC chr1:233089236-Reference-A;Patient-40 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Variant G aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat AGTGTAGTACCT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAagtgtagtacctAGATCGAGACCCGACGC chr1:235271550-Variant-G;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Variant G aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CGGTATACGTCA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAcggtatacgtcaAGATCGAGACCCGACGC chr1:235271550-Variant-G;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Variant G aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GCGGACGCATTA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgcggacgcattaAGATCGAGACCCGACGC chr1:235271550-Variant-G;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Variant G aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CTGCGTCAACAC CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAActgcgtcaacacAGATCGAGACCCGACGC chr1:235271550-Variant-G;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative T aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat ACCGCCGAAGTT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAaccgccgaagttAGATCGAGACCCGACGC chr1:235271550-Alternative-T;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Reference C aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GTTGTTGGATAC CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgttgttggatacAGATCGAGACCCGACGC chr1:235271550-Reference-C;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Variant G aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CGGTACTTGTCG CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggGtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAcggtacttgtcgAGATCGAGACCCGACGC chr1:235271550-Variant-G;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Reference C aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat AGGTTCGCAATT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAaggttcgcaattAGATCGAGACCCGACGC chr1:235271550-Reference-C;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative A aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat AGTAGCTAGCAA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAagtagctagcaaAGATCGAGACCCGACGC chr1:235271550-Alternative-A;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative T aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat AGGCCAATTCAT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAaggccaattcatAGATCGAGACCCGACGC chr1:235271550-Alternative-T;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative T aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GGTAATGCGTGG CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAggtaatgcgtggAGATCGAGACCCGACGC chr1:235271550-Alternative-T;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative T aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GAATCGGATAGA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgaatcggatagaAGATCGAGACCCGACGC chr1:235271550-Alternative-T;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative A aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GCGACTAATGAA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgcgactaatgaaAGATCGAGACCCGACGC chr1:235271550-Alternative-A;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative T aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GATGCCGCCTTA CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggTtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgatgccgccttaAGATCGAGACCCGACGC chr1:235271550-Alternative-T;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative A aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CGCCAACCAACT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAcgccaaccaactAGATCGAGACCCGACGC chr1:235271550-Alternative-A;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative A aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat AACGCCGTATGG CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAaacgccgtatggAGATCGAGACCCGACGC chr1:235271550-Alternative-A;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Reference C aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GTGTAAGTCAGT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgtgtaagtcagtAGATCGAGACCCGACGC chr1:235271550-Reference-C;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Reference C aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CTAGTGGTTAAG CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAActagtggttaagAGATCGAGACCCGACGC chr1:235271550-Reference-C;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Reference C aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat GTAGTAAGCAGT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggCtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAgtagtaagcagtAGATCGAGACCCGACGC chr1:235271550-Reference-C;Patient-89 chr1:235271550-CG Inherited Patient-89 intergenic 3.2e-05 0.000513 0.2 5.9 0.24 TOMM20 20705 Alternative A aattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaat CGCTTCTTACTT CGACGCGGTCTCTCTCTaattagctgggtgtggtggcgcatgcctgtaaccacagctgcttgggaggAtgaggcatgagaattgcttgaacctgagaggcattccagcctgggcaatAGAGGGAGACGGACGTCTCAATAAcgcttcttacttAGATCGAGACCCGACGC chr1:235271550-Alternative-A;Patient-89 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative C aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactg ACGTGAACGAGA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAacgtgaacgagaAGATCGAGACCCGACGC chr1:236140430-Alternative-C;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative C aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactg GAGCATGCTAGG CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAgagcatgctaggAGATCGAGACCCGACGC chr1:236140430-Alternative-C;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Reference G aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactg AACGTCTTGAGT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAaacgtcttgagtAGATCGAGACCCGACGC chr1:236140430-Reference-G;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative C aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CGCAGAGATCCA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAcgcagagatccaAGATCGAGACCCGACGC chr1:236140430-Alternative-C;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative C aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTAGCCAATAAG CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActagccaataagAGATCGAGACCCGACGC chr1:236140430-Alternative-C;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Reference G aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTTAGCGTTAAC CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActtagcgttaacAGATCGAGACCCGACGC chr1:236140430-Reference-G;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Reference G aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTCTATATGCGC CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActctatatgcgcAGATCGAGACCCGACGC chr1:236140430-Reference-G;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Reference G aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CGTGACCGATAC CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAcgtgaccgatacAGATCGAGACCCGACGC chr1:236140430-Reference-G;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Reference G aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTGAAGCGGTGT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgGacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActgaagcggtgtAGATCGAGACCCGACGC chr1:236140430-Reference-G;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Variant T aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTATCTCGTAAC CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActatctcgtaacAGATCGAGACCCGACGC chr1:236140430-Variant-T;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Variant T aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactg GGTTAAGATGCA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAggttaagatgcaAGATCGAGACCCGACGC chr1:236140430-Variant-T;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative A aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactg ATAGCTCTGGCG CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAatagctctggcgAGATCGAGACCCGACGC chr1:236140430-Alternative-A;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Variant T aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CGCAACGTTAGA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAcgcaacgttagaAGATCGAGACCCGACGC chr1:236140430-Variant-T;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Variant T aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTGGTACGGACA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActggtacggacaAGATCGAGACCCGACGC chr1:236140430-Variant-T;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Variant T aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactg GGTAATGCGAAT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgTacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAggtaatgcgaatAGATCGAGACCCGACGC chr1:236140430-Variant-T;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative C aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactg GACCAAGTTGTT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgCacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAgaccaagttgttAGATCGAGACCCGACGC chr1:236140430-Alternative-C;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative A aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactg ACAGGTCATGAA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAacaggtcatgaaAGATCGAGACCCGACGC chr1:236140430-Alternative-A;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative A aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactg CTCGTAGTGTAA CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAActcgtagtgtaaAGATCGAGACCCGACGC chr1:236140430-Alternative-A;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative A aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactg GTTGGTTCACTT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAgttggttcacttAGATCGAGACCCGACGC chr1:236140430-Alternative-A;Patient-37 chr1:236140430-GT Inherited Patient-37 3 prime UTR NID1 0.000191 0.00016 0.07 3.84 1.16 NID1 88050 Alternative A aatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactg ACGTGACGGAGT CGACGCGGTCTCTCTCTaatcccctattctcaaatatctgacctacaccttgaaattcctaccattgAacattcttttgatttaagcctttaactaacaaatgccaatatcctactgAGAGGGAGACGGACGTCTCAATAAacgtgacggagtAGATCGAGACCCGACGC chr1:236140430-Alternative-A;Patient-37 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative G tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatc GGTAATCCGACT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAggtaatccgactAGATCGAGACCCGACGC chr1:236157842-Alternative-G;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative G tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatc CGAGATCCGAAC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAcgagatccgaacAGATCGAGACCCGACGC chr1:236157842-Alternative-G;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative G tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatc CTCTAAGGTACA CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAActctaaggtacaAGATCGAGACCCGACGC chr1:236157842-Alternative-G;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Reference A tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatc GCGTAGCGCATA CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAgcgtagcgcataAGATCGAGACCCGACGC chr1:236157842-Reference-A;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Variant C tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatc CAATACGTCGAC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAcaatacgtcgacAGATCGAGACCCGACGC chr1:236157842-Variant-C;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative G tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatc ACGATTACCATC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAacgattaccatcAGATCGAGACCCGACGC chr1:236157842-Alternative-G;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative T tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatc CGAGTTCTAGGT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAcgagttctaggtAGATCGAGACCCGACGC chr1:236157842-Alternative-T;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative T tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatc CGGATCTTGTGC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAcggatcttgtgcAGATCGAGACCCGACGC chr1:236157842-Alternative-T;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Reference A tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatc ACATCAGACGTT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAacatcagacgttAGATCGAGACCCGACGC chr1:236157842-Reference-A;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Reference A tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatc AGGACTTCCTGG CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAaggacttcctggAGATCGAGACCCGACGC chr1:236157842-Reference-A;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Reference A tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatc CATAATTCCGTC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAcataattccgtcAGATCGAGACCCGACGC chr1:236157842-Reference-A;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative T tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatc AACAGCACCATC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAaacagcaccatcAGATCGAGACCCGACGC chr1:236157842-Alternative-T;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Reference A tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatc AATCGTGTAACC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagAacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAaatcgtgtaaccAGATCGAGACCCGACGC chr1:236157842-Reference-A;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Variant C tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatc GTGTCGCTCTGT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAgtgtcgctctgtAGATCGAGACCCGACGC chr1:236157842-Variant-C;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Variant C tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatc CTGAGATACACT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAActgagatacactAGATCGAGACCCGACGC chr1:236157842-Variant-C;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative G tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatc ATACCAACGTGC CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagGacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAataccaacgtgcAGATCGAGACCCGACGC chr1:236157842-Alternative-G;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Variant C tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatc CTGCGTCCTAGT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAActgcgtcctagtAGATCGAGACCCGACGC chr1:236157842-Variant-C;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Variant C tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatc ACAACCGACGCT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagCacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAacaaccgacgctAGATCGAGACCCGACGC chr1:236157842-Variant-C;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative T tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatc GCGCATAATCTT CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAgcgcataatcttAGATCGAGACCCGACGC chr1:236157842-Alternative-T;Patient-62 chr1:236157842-AC DeNovo Patient-62 intronic NID1 NA 4.95e-05 -0.59 0.05 -3.06 NID1 70638 Alternative T tcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatc AGTATTCGCAAG CGACGCGGTCTCTCTCTtcacttagcagaatgttgtcaagctttatccaggtggtagcatgtattagTacctgcttcatattcatggctgaataatattgcattgtagggacagatcAGAGGGAGACGGACGTCTCAATAAagtattcgcaagAGATCGAGACCCGACGC chr1:236157842-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative C tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttca ATTGTGCTGCAA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAattgtgctgcaaAGATCGAGACCCGACGC chr1:236162018-Alternative-C;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Variant A tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttca AGTACGCCGATT CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAagtacgccgattAGATCGAGACCCGACGC chr1:236162018-Variant-A;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative C tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttca CATAGGCTGAGA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAcataggctgagaAGATCGAGACCCGACGC chr1:236162018-Alternative-C;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative T tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttca ATCCTGTTAGCT CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAatcctgttagctAGATCGAGACCCGACGC chr1:236162018-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Variant A tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttca GACCTGTAACGA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgacctgtaacgaAGATCGAGACCCGACGC chr1:236162018-Variant-A;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Reference G tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttca AAGCGGACGCAT CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAaagcggacgcatAGATCGAGACCCGACGC chr1:236162018-Reference-G;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative T tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttca GTTACCGCTGAG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgttaccgctgagAGATCGAGACCCGACGC chr1:236162018-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Variant A tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttca AATAGCAGCACA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAaatagcagcacaAGATCGAGACCCGACGC chr1:236162018-Variant-A;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Reference G tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttca CGTCGATTCGAG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAcgtcgattcgagAGATCGAGACCCGACGC chr1:236162018-Reference-G;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative C tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttca GGATCACGCTAA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAggatcacgctaaAGATCGAGACCCGACGC chr1:236162018-Alternative-C;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Reference G tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttca CTCGTTCGCTTC CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAActcgttcgcttcAGATCGAGACCCGACGC chr1:236162018-Reference-G;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Reference G tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttca ACGAACGTCGTT CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAacgaacgtcgttAGATCGAGACCCGACGC chr1:236162018-Reference-G;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Reference G tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttca CAGGATACGTGG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacGtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAcaggatacgtggAGATCGAGACCCGACGC chr1:236162018-Reference-G;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative T tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttca GATTGCTCCGTC CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgattgctccgtcAGATCGAGACCCGACGC chr1:236162018-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative T tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttca ACTGTCATCAAG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAactgtcatcaagAGATCGAGACCCGACGC chr1:236162018-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative C tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttca AGGCGACTACCA CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAaggcgactaccaAGATCGAGACCCGACGC chr1:236162018-Alternative-C;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Variant A tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttca GAATCACGCACG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgaatcacgcacgAGATCGAGACCCGACGC chr1:236162018-Variant-A;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative T tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttca GCGTCAGATGGT CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacTtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgcgtcagatggtAGATCGAGACCCGACGC chr1:236162018-Alternative-T;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Variant A tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttca GACATTGATTCG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacAtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAgacattgattcgAGATCGAGACCCGACGC chr1:236162018-Variant-A;Patient-62 chr1:236162018-GA DeNovo Patient-62 intronic NID1 3.2e-05 4.95e-05 -0.2 0.7 -4.6 NID1 66462 Alternative C tctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttca AGACCTGTTCGG CGACGCGGTCTCTCTCTtctgtctcaaaaaaaaaaaatctggttttgttcactcttgaatgtaaaacCtgtttacttccacaaaattttacgttggcatagggttttagagttttcaAGAGGGAGACGGACGTCTCAATAAagacctgttcggAGATCGAGACCCGACGC chr1:236162018-Alternative-C;Patient-62 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative G atgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CAGGTATCAATC CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAcaggtatcaatcAGATCGAGACCCGACGC chr1:237261378-Alternative-G;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative A atgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag ACTTCGTCACTA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAacttcgtcactaAGATCGAGACCCGACGC chr1:237261378-Alternative-A;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Variant T atgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CTATGAGAGCTA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAActatgagagctaAGATCGAGACCCGACGC chr1:237261378-Variant-T;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative A atgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag AGGTTCGAGATT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAaggttcgagattAGATCGAGACCCGACGC chr1:237261378-Alternative-A;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative G atgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag ACAACAACACCT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAacaacaacacctAGATCGAGACCCGACGC chr1:237261378-Alternative-G;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative A atgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CAGGAGATAAGA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAcaggagataagaAGATCGAGACCCGACGC chr1:237261378-Alternative-A;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative A atgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GTGTCGTCTGCT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAgtgtcgtctgctAGATCGAGACCCGACGC chr1:237261378-Alternative-A;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Variant T atgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GTCGTGATAGAA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAgtcgtgatagaaAGATCGAGACCCGACGC chr1:237261378-Variant-T;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative G atgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CATCAACCGACG CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAcatcaaccgacgAGATCGAGACCCGACGC chr1:237261378-Alternative-G;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative G atgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag AGGACCGAGATT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAaggaccgagattAGATCGAGACCCGACGC chr1:237261378-Alternative-G;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Variant T atgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GGTCAAGAATCA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAggtcaagaatcaAGATCGAGACCCGACGC chr1:237261378-Variant-T;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative A atgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GGTAGCTTATGT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccAgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAggtagcttatgtAGATCGAGACCCGACGC chr1:237261378-Alternative-A;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Variant T atgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GGAGGATTGTTA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAggaggattgttaAGATCGAGACCCGACGC chr1:237261378-Variant-T;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Alternative G atgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GAGGTAATGCTA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccGgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAgaggtaatgctaAGATCGAGACCCGACGC chr1:237261378-Alternative-G;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Reference C atgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag ATCGCGCATGAG CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAatcgcgcatgagAGATCGAGACCCGACGC chr1:237261378-Reference-C;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Reference C atgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GTAGTATGCTGT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAgtagtatgctgtAGATCGAGACCCGACGC chr1:237261378-Reference-C;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Variant T atgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag GGTAGGAGTCAC CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccTgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAggtaggagtcacAGATCGAGACCCGACGC chr1:237261378-Variant-T;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Reference C atgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CGTCAAGAGTAA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAAcgtcaagagtaaAGATCGAGACCCGACGC chr1:237261378-Reference-C;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Reference C atgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CTGCATACCATT CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAActgcataccattAGATCGAGACCCGACGC chr1:237261378-Reference-C;Patient-25 chr1:237261378-CT Inherited Patient-25 intronic RYR2 0.000255 4.95e-05 0.5 9.4 3.46 RYR2 55675 Reference C atgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaag CTAACGCTCTTA CGACGCGGTCTCTCTCTatgaagacaaatatcaagattgactgatgttttcctccctattaatttccCgtaggaatggtaaaaatgcaattattcatctatgaaaatggtgtttaagAGAGGGAGACGGACGTCTCAATAActaacgctcttaAGATCGAGACCCGACGC chr1:237261378-Reference-C;Patient-25 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative A tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt ACATGCTCCAAC CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAacatgctccaacAGATCGAGACCCGACGC chr1:239782478-Alternative-A;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative A tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt CGCATTCATTCG CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAcgcattcattcgAGATCGAGACCCGACGC chr1:239782478-Alternative-A;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative A tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AGACGTACTATC CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAagacgtactatcAGATCGAGACCCGACGC chr1:239782478-Alternative-A;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Variant C tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt CTTACATCTTCG CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAActtacatcttcgAGATCGAGACCCGACGC chr1:239782478-Variant-C;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative A tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AACAGGTCGGAG CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAaacaggtcggagAGATCGAGACCCGACGC chr1:239782478-Alternative-A;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative A tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt CAACGGAGTATA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaAtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAcaacggagtataAGATCGAGACCCGACGC chr1:239782478-Alternative-A;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Variant C tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt GCGAATATAGCT CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAgcgaatatagctAGATCGAGACCCGACGC chr1:239782478-Variant-C;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Reference G tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt ACTCTCGGCATC CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAactctcggcatcAGATCGAGACCCGACGC chr1:239782478-Reference-G;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Variant C tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt GGCTAAGACGAC CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAggctaagacgacAGATCGAGACCCGACGC chr1:239782478-Variant-C;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Variant C tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AAGTCCGTTGTT CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAaagtccgttgttAGATCGAGACCCGACGC chr1:239782478-Variant-C;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative T tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt GTCTCGTATCAA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAgtctcgtatcaaAGATCGAGACCCGACGC chr1:239782478-Alternative-T;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Variant C tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AGTGCGAATCTT CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaCtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAagtgcgaatcttAGATCGAGACCCGACGC chr1:239782478-Variant-C;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Reference G tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AGCTGTGAATGA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAagctgtgaatgaAGATCGAGACCCGACGC chr1:239782478-Reference-G;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative T tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt AGCATCAGTAAG CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAagcatcagtaagAGATCGAGACCCGACGC chr1:239782478-Alternative-T;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative T tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt ACCGGATCGTGA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAaccggatcgtgaAGATCGAGACCCGACGC chr1:239782478-Alternative-T;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Reference G tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt ATTCGCCTACGT CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAattcgcctacgtAGATCGAGACCCGACGC chr1:239782478-Reference-G;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative T tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt GCAGTAGTACCA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAgcagtagtaccaAGATCGAGACCCGACGC chr1:239782478-Alternative-T;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Alternative T tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt CTGTCGGAAGCT CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaTtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAActgtcggaagctAGATCGAGACCCGACGC chr1:239782478-Alternative-T;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Reference G tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt ACCAACGTTGAC CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAaccaacgttgacAGATCGAGACCCGACGC chr1:239782478-Reference-G;Patient-75 chr1:239782478-GC DeNovo Patient-75 intergenic NA 0.000513 -0.34 0.27 -0.57 CHRM3 9894 Reference G tggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctctttt CAACCGAGTAGA CGACGCGGTCTCTCTCTtggttttgaattcctgacctcgggtgatccactggcctcagcctcccaaaGtgctaggattacagatgtgagccactgcgcctgacctcctttctcttttAGAGGGAGACGGACGTCTCAATAAcaaccgagtagaAGATCGAGACCCGACGC chr1:239782478-Reference-G;Patient-75 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Reference G agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt ACGCATAAGGAT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAacgcataaggatAGATCGAGACCCGACGC chr1:239786210-Reference-G;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Reference G agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AGCTCTGTCGTC CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAagctctgtcgtcAGATCGAGACCCGACGC chr1:239786210-Reference-G;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Variant T agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt CGAGAGATACGC CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAcgagagatacgcAGATCGAGACCCGACGC chr1:239786210-Variant-T;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Reference G agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GGTACGACTTAA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAggtacgacttaaAGATCGAGACCCGACGC chr1:239786210-Reference-G;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Reference G agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AGAGCCTATCTA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAagagcctatctaAGATCGAGACCCGACGC chr1:239786210-Reference-G;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative C agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AGACGGTTAAGT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAagacggttaagtAGATCGAGACCCGACGC chr1:239786210-Alternative-C;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Reference G agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AAGATTAGGCCA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaGaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAaagattaggccaAGATCGAGACCCGACGC chr1:239786210-Reference-G;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative C agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt ACCTTCGTACAC CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAaccttcgtacacAGATCGAGACCCGACGC chr1:239786210-Alternative-C;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Variant T agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AGGTGATCGAGA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAaggtgatcgagaAGATCGAGACCCGACGC chr1:239786210-Variant-T;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative C agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AACGACCATAAG CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAaacgaccataagAGATCGAGACCCGACGC chr1:239786210-Alternative-C;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative A agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt ACGATTGACGAA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAacgattgacgaaAGATCGAGACCCGACGC chr1:239786210-Alternative-A;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative C agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AACGCGCAGCTA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAaacgcgcagctaAGATCGAGACCCGACGC chr1:239786210-Alternative-C;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative C agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GGCGAAGGATCA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaCaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAggcgaaggatcaAGATCGAGACCCGACGC chr1:239786210-Alternative-C;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Variant T agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GTACAGTAAGGT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAgtacagtaaggtAGATCGAGACCCGACGC chr1:239786210-Variant-T;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Variant T agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt AGCTCGCTTCGT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAagctcgcttcgtAGATCGAGACCCGACGC chr1:239786210-Variant-T;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative A agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GTTCCGGCTAAG CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAgttccggctaagAGATCGAGACCCGACGC chr1:239786210-Alternative-A;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Variant T agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GGAAGTACCGGT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaTaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAggaagtaccggtAGATCGAGACCCGACGC chr1:239786210-Variant-T;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative A agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt CTCAACCGATAA CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAActcaaccgataaAGATCGAGACCCGACGC chr1:239786210-Alternative-A;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative A agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt CGTTCAGAACAT CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAcgttcagaacatAGATCGAGACCCGACGC chr1:239786210-Alternative-A;Patient-71 chr1:239786210-GT DeNovo Patient-71 intergenic 0.000893 0.00103 -0.21 0.66 -0.64 CHRM3 6162 Alternative A agcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgtt GGCGCTTAACAC CGACGCGGTCTCTCTCTagcatcacatgcaacttgaggatgtgatgtatagcatcacaagctacagaAaaatcttttacaaaagaaagagtccatcactgcagcaaacttcattgttAGAGGGAGACGGACGTCTCAATAAggcgcttaacacAGATCGAGACCCGACGC chr1:239786210-Alternative-A;Patient-71 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Variant C aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GTCTCGGCTGAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgtctcggctgaaAGATCGAGACCCGACGC chr1:239838061-Variant-C;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Reference T aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc CGCGCCAATATC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAcgcgccaatatcAGATCGAGACCCGACGC chr1:239838061-Reference-T;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative G aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc CTCACGTGCAAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAActcacgtgcaagAGATCGAGACCCGACGC chr1:239838061-Alternative-G;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative G aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc CTACGGTGATAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAActacggtgataaAGATCGAGACCCGACGC chr1:239838061-Alternative-G;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Variant C aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GTAACAACCAGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgtaacaaccagaAGATCGAGACCCGACGC chr1:239838061-Variant-C;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative G aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GCAGTTACGGAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgcagttacggagAGATCGAGACCCGACGC chr1:239838061-Alternative-G;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Variant C aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc AGGCCGATGACT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAaggccgatgactAGATCGAGACCCGACGC chr1:239838061-Variant-C;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative A aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc ACGATCAGCGAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAacgatcagcgagAGATCGAGACCCGACGC chr1:239838061-Alternative-A;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Reference T aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc ATTACCGTCGAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAattaccgtcgaaAGATCGAGACCCGACGC chr1:239838061-Reference-T;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative G aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc AGGCGGTATAGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAaggcggtatagaAGATCGAGACCCGACGC chr1:239838061-Alternative-G;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative A aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GTAACAGCGCGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgtaacagcgcgtAGATCGAGACCCGACGC chr1:239838061-Alternative-A;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative A aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GTGATAGCGCGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgtgatagcgcgtAGATCGAGACCCGACGC chr1:239838061-Alternative-A;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative A aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GTCAACGGAGAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgtcaacggagatAGATCGAGACCCGACGC chr1:239838061-Alternative-A;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Reference T aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GACTGTATGTCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAgactgtatgtcaAGATCGAGACCCGACGC chr1:239838061-Reference-T;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative G aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc AGTGTTGCATGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaGtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAagtgttgcatgtAGATCGAGACCCGACGC chr1:239838061-Alternative-G;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Reference T aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc GGTTACAACACT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAggttacaacactAGATCGAGACCCGACGC chr1:239838061-Reference-T;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Variant C aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc ACCATGTACGAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAaccatgtacgacAGATCGAGACCCGACGC chr1:239838061-Variant-C;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Variant C aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc CAACATCTACAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaCtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAcaacatctacagAGATCGAGACCCGACGC chr1:239838061-Variant-C;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Reference T aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc AGATTCGTGAAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaTtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAagattcgtgaacAGATCGAGACCCGACGC chr1:239838061-Reference-T;Patient-42 chr1:239838061-TC DeNovo Patient-42 intronic CHRM3 NA 0.000317 -0.05 1.98 0.09 CHRM3 45687 Alternative A aaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagcc ACTACACAGCAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaagaaagaaaaatcacttaagtatcagacaagcaaAtcaaatcccaactcaggccatttcctgttgtatgctaagtggatgagccAGAGGGAGACGGACGTCTCAATAAactacacagcatAGATCGAGACCCGACGC chr1:239838061-Alternative-A;Patient-42 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative G tgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GACCTGGTTGAC CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgacctggttgacAGATCGAGACCCGACGC chr1:244032460-Alternative-G;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative G tgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GTAAGCCTTAGT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgtaagccttagtAGATCGAGACCCGACGC chr1:244032460-Alternative-G;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative G tgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CGTATCATGCTT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAcgtatcatgcttAGATCGAGACCCGACGC chr1:244032460-Alternative-G;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Variant T tgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GCGAGGAGTACT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgcgaggagtactAGATCGAGACCCGACGC chr1:244032460-Variant-T;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative G tgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CTATGCGTGCAC CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAActatgcgtgcacAGATCGAGACCCGACGC chr1:244032460-Alternative-G;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative G tgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GGACCGTTGCTA CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatGttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAggaccgttgctaAGATCGAGACCCGACGC chr1:244032460-Alternative-G;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Variant T tgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GACAATGCTCAT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgacaatgctcatAGATCGAGACCCGACGC chr1:244032460-Variant-T;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Variant T tgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac ATTGCCTCGAGT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAattgcctcgagtAGATCGAGACCCGACGC chr1:244032460-Variant-T;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative A tgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GTTCGTGTCGCT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgttcgtgtcgctAGATCGAGACCCGACGC chr1:244032460-Alternative-A;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Variant T tgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GGATACGATAGT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAggatacgatagtAGATCGAGACCCGACGC chr1:244032460-Variant-T;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Variant T tgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CACTTCGGAATA CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatTttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAcacttcggaataAGATCGAGACCCGACGC chr1:244032460-Variant-T;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative A tgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac ACAGATGCATGC CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAacagatgcatgcAGATCGAGACCCGACGC chr1:244032460-Alternative-A;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative A tgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GTCAAGACGACG CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgtcaagacgacgAGATCGAGACCCGACGC chr1:244032460-Alternative-A;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative A tgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CGTGTGGAGCAA CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAcgtgtggagcaaAGATCGAGACCCGACGC chr1:244032460-Alternative-A;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Reference C tgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GTTGTGAACCTT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgttgtgaaccttAGATCGAGACCCGACGC chr1:244032460-Reference-C;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Reference C tgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac ACGCGGTGACAT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAacgcggtgacatAGATCGAGACCCGACGC chr1:244032460-Reference-C;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Alternative A tgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac GAATGGACCATA CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatAttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAgaatggaccataAGATCGAGACCCGACGC chr1:244032460-Alternative-A;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Reference C tgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CGTTGCGCTCTT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAcgttgcgctcttAGATCGAGACCCGACGC chr1:244032460-Reference-C;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Reference C tgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac AACTCGCATGTT CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAAaactcgcatgttAGATCGAGACCCGACGC chr1:244032460-Reference-C;Patient-62 chr1:244032460-CT DeNovo Patient-62 intergenic 0.000414 0.000513 0.22 6.1 1.98 AKT3 25573 Reference C tgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaac CTTAATGCGCTA CGACGCGGTCTCTCTCTtgtttatacaaatagttaccattttctttcctctccattatttcatgcatCttggatcatccttccagaagtacctcctttaatagagtgcttcttaaacAGAGGGAGACGGACGTCTCAATAActtaatgcgctaAGATCGAGACCCGACGC chr1:244032460-Reference-C;Patient-62 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Variant A tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GGTATTGATCCT CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAggtattgatcctAGATCGAGACCCGACGC chr1:245045259-Variant-A;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative T tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CGTGTCGTGTGA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAcgtgtcgtgtgaAGATCGAGACCCGACGC chr1:245045259-Alternative-T;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative T tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa ATACCGCTTAAG CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAataccgcttaagAGATCGAGACCCGACGC chr1:245045259-Alternative-T;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Reference G tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CAGCTTGTGCGA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAcagcttgtgcgaAGATCGAGACCCGACGC chr1:245045259-Reference-G;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative T tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa AGCTCACTGTAA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAagctcactgtaaAGATCGAGACCCGACGC chr1:245045259-Alternative-T;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Variant A tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CTAATAGCGACT CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAActaatagcgactAGATCGAGACCCGACGC chr1:245045259-Variant-A;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Reference G tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa ACACCACCGTGA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAacaccaccgtgaAGATCGAGACCCGACGC chr1:245045259-Reference-G;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Variant A tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CAACAAGCGACG CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAcaacaagcgacgAGATCGAGACCCGACGC chr1:245045259-Variant-A;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Reference G tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa AATAGTTCGACC CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAaatagttcgaccAGATCGAGACCCGACGC chr1:245045259-Reference-G;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative T tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GGTACGTAGCCA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAggtacgtagccaAGATCGAGACCCGACGC chr1:245045259-Alternative-T;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative C tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CGTCGAGATTAT CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAcgtcgagattatAGATCGAGACCCGACGC chr1:245045259-Alternative-C;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative C tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CTAGCGTGAATC CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAActagcgtgaatcAGATCGAGACCCGACGC chr1:245045259-Alternative-C;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Reference G tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GTCGCGGTCTAA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAgtcgcggtctaaAGATCGAGACCCGACGC chr1:245045259-Reference-G;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative T tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GATGTTGGACGG CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactTggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAgatgttggacggAGATCGAGACCCGACGC chr1:245045259-Alternative-T;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Variant A tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GATCGTCGCTGA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAgatcgtcgctgaAGATCGAGACCCGACGC chr1:245045259-Variant-A;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Reference G tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GCGTTCTTGATT CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactGggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAgcgttcttgattAGATCGAGACCCGACGC chr1:245045259-Reference-G;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative C tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa GATTACCTGGAT CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAgattacctggatAGATCGAGACCCGACGC chr1:245045259-Alternative-C;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative C tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CAACGCGTCCTA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAcaacgcgtcctaAGATCGAGACCCGACGC chr1:245045259-Alternative-C;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Variant A tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa CTGCTATTCTGA CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactAggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAActgctattctgaAGATCGAGACCCGACGC chr1:245045259-Variant-A;Patient-79 chr1:245045259-GA DeNovo Patient-79 intergenic NA 0.000513 -0.18 0.79 -3.72 HNRNPU 17431 Alternative C tcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaa ACATAGACGAAC CGACGCGGTCTCTCTCTtcctccccagtcacagcccacagctccctttccgtcgtgcttgttatactCggaactgttgggaacgtacacctacctcaaaggagtgcatcagtgcaaaAGAGGGAGACGGACGTCTCAATAAacatagacgaacAGATCGAGACCCGACGC chr1:245045259-Alternative-C;Patient-79 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative G tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat CAGACGGTCCAT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAcagacggtccatAGATCGAGACCCGACGC chr1:245052477-Alternative-G;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Variant T tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat GCATATAGCTGT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAgcatatagctgtAGATCGAGACCCGACGC chr1:245052477-Variant-T;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative G tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat GTCGTGTGGAGA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAgtcgtgtggagaAGATCGAGACCCGACGC chr1:245052477-Alternative-G;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Variant T tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat GACCAATAGCAA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAgaccaatagcaaAGATCGAGACCCGACGC chr1:245052477-Variant-T;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Variant T tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat ACTAATGCGAAC CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAactaatgcgaacAGATCGAGACCCGACGC chr1:245052477-Variant-T;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Variant T tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat GTCGGAGCCTTA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAgtcggagccttaAGATCGAGACCCGACGC chr1:245052477-Variant-T;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative G tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat CGCCTAGTACTT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAcgcctagtacttAGATCGAGACCCGACGC chr1:245052477-Alternative-G;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Variant T tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat AGGCACGAGCAA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaTttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAaggcacgagcaaAGATCGAGACCCGACGC chr1:245052477-Variant-T;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative A tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat AACGGTGCAAGA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAaacggtgcaagaAGATCGAGACCCGACGC chr1:245052477-Alternative-A;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative G tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat ATCACGTAGGTT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAatcacgtaggttAGATCGAGACCCGACGC chr1:245052477-Alternative-G;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative G tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat CACGTAAGTCGA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaGttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAcacgtaagtcgaAGATCGAGACCCGACGC chr1:245052477-Alternative-G;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative A tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat ACGTGCGTTCGA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAacgtgcgttcgaAGATCGAGACCCGACGC chr1:245052477-Alternative-A;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Reference C tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat ACGTTATCGCGC CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAacgttatcgcgcAGATCGAGACCCGACGC chr1:245052477-Reference-C;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative A tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat CGGACTATCATT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAcggactatcattAGATCGAGACCCGACGC chr1:245052477-Alternative-A;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Reference C tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat AACGCTACGATT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAaacgctacgattAGATCGAGACCCGACGC chr1:245052477-Reference-C;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Reference C tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat ACCTAACAAGCA CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAacctaacaagcaAGATCGAGACCCGACGC chr1:245052477-Reference-C;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative A tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat GCGCCTATTCGT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAgcgcctattcgtAGATCGAGACCCGACGC chr1:245052477-Alternative-A;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Reference C tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat AAGCAGTAGTAC CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAaagcagtagtacAGATCGAGACCCGACGC chr1:245052477-Reference-C;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Reference C tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat CACATCGAAGTT CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaCttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAcacatcgaagttAGATCGAGACCCGACGC chr1:245052477-Reference-C;Patient-89 chr1:245052477-CT Inherited Patient-89 intergenic NA 0.000513 -0.04 2.01 0.24 HNRNPU 24649 Alternative A tatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggat AGCGCAATTGAC CGACGCGGTCTCTCTCTtatttttagtagagacagggtttcaccttgttggtcaggctggtcttaaaAttctgacctcaggtgatccacctgcctcagcctcccaaagtgctgggatAGAGGGAGACGGACGTCTCAATAAagcgcaattgacAGATCGAGACCCGACGC chr1:245052477-Alternative-A;Patient-89 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative A tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatc AGCGGCATTAGG CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAagcggcattaggAGATCGAGACCCGACGC chr1:245086651-Alternative-A;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative A tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatc AGACGCTCCTGA CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAagacgctcctgaAGATCGAGACCCGACGC chr1:245086651-Alternative-A;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative A tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatc AGTAACTTGACC CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAagtaacttgaccAGATCGAGACCCGACGC chr1:245086651-Alternative-A;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative A tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatc GATTGACACGAT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAgattgacacgatAGATCGAGACCCGACGC chr1:245086651-Alternative-A;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative A tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatc GACCTCCGTAAT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatAtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAgacctccgtaatAGATCGAGACCCGACGC chr1:245086651-Alternative-A;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Variant C tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatc AACGCATTGTGT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAaacgcattgtgtAGATCGAGACCCGACGC chr1:245086651-Variant-C;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Variant C tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatc CAGTATCCAAGG CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAcagtatccaaggAGATCGAGACCCGACGC chr1:245086651-Variant-C;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Variant C tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatc ATCTGCATCGTT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAatctgcatcgttAGATCGAGACCCGACGC chr1:245086651-Variant-C;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Reference T tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatc AGCGTTACGGAT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAagcgttacggatAGATCGAGACCCGACGC chr1:245086651-Reference-T;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Variant C tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatc ATAGCAACCAGA CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAatagcaaccagaAGATCGAGACCCGACGC chr1:245086651-Variant-C;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Variant C tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatc GCGCGTCAGTAA CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatCtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAgcgcgtcagtaaAGATCGAGACCCGACGC chr1:245086651-Variant-C;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Reference T tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatc AGTCGCACATAT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAagtcgcacatatAGATCGAGACCCGACGC chr1:245086651-Reference-T;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Reference T tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatc AGGTGAATACGT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAaggtgaatacgtAGATCGAGACCCGACGC chr1:245086651-Reference-T;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Reference T tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatc ACACGTGGACCT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAacacgtggacctAGATCGAGACCCGACGC chr1:245086651-Reference-T;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Reference T tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatc ATACGGAGTCGC CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatTtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAatacggagtcgcAGATCGAGACCCGACGC chr1:245086651-Reference-T;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative G tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatc CATTCTGCTAGT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAcattctgctagtAGATCGAGACCCGACGC chr1:245086651-Alternative-G;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative G tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatc GCGTCGTGTCTT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAgcgtcgtgtcttAGATCGAGACCCGACGC chr1:245086651-Alternative-G;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative G tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatc AGGTTCCAAGAA CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAaggttccaagaaAGATCGAGACCCGACGC chr1:245086651-Alternative-G;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative G tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatc GGTCGTTCGTCT CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAggtcgttcgtctAGATCGAGACCCGACGC chr1:245086651-Alternative-G;Patient-68 chr1:245086651-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.11 4.42 1.52 HNRNPU 58823 Alternative G tatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatc CGGTACAGATCG CGACGCGGTCTCTCTCTtatgcacccagggtaatatgcctctggcacatggtaggcacttaatgaatGtatgtggaataattcagcaacttacttttatagatacatacagactatcAGAGGGAGACGGACGTCTCAATAAcggtacagatcgAGATCGAGACCCGACGC chr1:245086651-Alternative-G;Patient-68 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative G tccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GCGTTATGAACA CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAgcgttatgaacaAGATCGAGACCCGACGC chr1:245086872-Alternative-G;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Reference C tccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GATGCCTAACAT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAgatgcctaacatAGATCGAGACCCGACGC chr1:245086872-Reference-C;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative A tccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc AACCGATTCGAC CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAaaccgattcgacAGATCGAGACCCGACGC chr1:245086872-Alternative-A;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Variant T tccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc ACACTAGGTGTT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAacactaggtgttAGATCGAGACCCGACGC chr1:245086872-Variant-T;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative A tccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GTAATATAGGCG CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAgtaatataggcgAGATCGAGACCCGACGC chr1:245086872-Alternative-A;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Variant T tccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GGTTCGTGCGAA CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAggttcgtgcgaaAGATCGAGACCCGACGC chr1:245086872-Variant-T;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative A tccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GCATACTGACCA CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAgcatactgaccaAGATCGAGACCCGACGC chr1:245086872-Alternative-A;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative G tccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc AGGCGCTTAAGG CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAaggcgcttaaggAGATCGAGACCCGACGC chr1:245086872-Alternative-G;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Reference C tccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc CGGACTTACCGT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAcggacttaccgtAGATCGAGACCCGACGC chr1:245086872-Reference-C;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Variant T tccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc AGGCCGGACATT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAaggccggacattAGATCGAGACCCGACGC chr1:245086872-Variant-T;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Variant T tccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc ACGCCTGTTATT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAacgcctgttattAGATCGAGACCCGACGC chr1:245086872-Variant-T;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative G tccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc GCGAAGTTGACC CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAgcgaagttgaccAGATCGAGACCCGACGC chr1:245086872-Alternative-G;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative A tccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc CTATATTCGCGT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAActatattcgcgtAGATCGAGACCCGACGC chr1:245086872-Alternative-A;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative A tccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc ACCACATAGCGG CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggAtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAaccacatagcggAGATCGAGACCCGACGC chr1:245086872-Alternative-A;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Reference C tccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc ATCCGCCGTTGT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAatccgccgttgtAGATCGAGACCCGACGC chr1:245086872-Reference-C;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Reference C tccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc AATCGAGTACGT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAaatcgagtacgtAGATCGAGACCCGACGC chr1:245086872-Reference-C;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Reference C tccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc CGGAAGTACGAG CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggCtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAcggaagtacgagAGATCGAGACCCGACGC chr1:245086872-Reference-C;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative G tccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc ACAGCTCGGCAA CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAacagctcggcaaAGATCGAGACCCGACGC chr1:245086872-Alternative-G;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Alternative G tccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc CGTCGGCTTGTT CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggGtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAcgtcggcttgttAGATCGAGACCCGACGC chr1:245086872-Alternative-G;Patient-80 chr1:245086872-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.02 3.01 -0.09 EFCAB2 46298 Variant T tccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttc CACAGATCCTTC CGACGCGGTCTCTCTCTtccatccactggtaggggtttggatcagataaaagggagaacatcccaggTtgggtgcataatgtttggaaagggttaaggaaggccaagtgaatagttcAGAGGGAGACGGACGTCTCAATAAcacagatccttcAGATCGAGACCCGACGC chr1:245086872-Variant-T;Patient-80 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative T gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta AAGTACAGAGCG CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAaagtacagagcgAGATCGAGACCCGACGC chr1:245102453-Alternative-T;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative T gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta ACTAGATGTCGT CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAactagatgtcgtAGATCGAGACCCGACGC chr1:245102453-Alternative-T;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Variant G gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CTGTTCGTCATA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAActgttcgtcataAGATCGAGACCCGACGC chr1:245102453-Variant-G;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative T gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta ACAGATTCGGAA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAacagattcggaaAGATCGAGACCCGACGC chr1:245102453-Alternative-T;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative T gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CAGATTGGCGTC CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcagattggcgtcAGATCGAGACCCGACGC chr1:245102453-Alternative-T;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative T gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CATTACACCTAC CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagTgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcattacacctacAGATCGAGACCCGACGC chr1:245102453-Alternative-T;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Reference A gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GCCGCATTAATT CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAgccgcattaattAGATCGAGACCCGACGC chr1:245102453-Reference-A;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Variant G gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta AACCGGAGTCAC CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAaaccggagtcacAGATCGAGACCCGACGC chr1:245102453-Variant-G;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Reference A gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta ATAAGTACGCAG CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAataagtacgcagAGATCGAGACCCGACGC chr1:245102453-Reference-A;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Variant G gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GTCGCTAATCAT CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAgtcgctaatcatAGATCGAGACCCGACGC chr1:245102453-Variant-G;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Reference A gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GTATCCGCTATA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAgtatccgctataAGATCGAGACCCGACGC chr1:245102453-Reference-A;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Variant G gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CGAATTGCAATC CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcgaattgcaatcAGATCGAGACCCGACGC chr1:245102453-Variant-G;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Variant G gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GCAGTTATGCCA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagGgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAgcagttatgccaAGATCGAGACCCGACGC chr1:245102453-Variant-G;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Reference A gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CATGCTCATCTA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcatgctcatctaAGATCGAGACCCGACGC chr1:245102453-Reference-A;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Reference A gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GGATCGTAAGCG CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagAgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAggatcgtaagcgAGATCGAGACCCGACGC chr1:245102453-Reference-A;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative C gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CGTTCCATAGAT CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcgttccatagatAGATCGAGACCCGACGC chr1:245102453-Alternative-C;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative C gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta GACCAATAGCGT CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAgaccaatagcgtAGATCGAGACCCGACGC chr1:245102453-Alternative-C;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative C gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta ACAGACGCTGAC CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAacagacgctgacAGATCGAGACCCGACGC chr1:245102453-Alternative-C;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative C gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CTTAGTTGGACG CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAActtagttggacgAGATCGAGACCCGACGC chr1:245102453-Alternative-C;Patient-61 chr1:245102453-AG Inherited Patient-61 intergenic 3.2e-05 0.000513 0.05 3.37 0.49 HNRNPU 74625 Alternative C gtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgcta CATCGCACGCTA CGACGCGGTCTCTCTCTgtgagccactgtgcgtggccagattgttgttgtttttatcagatatgcagCgcaatgatccagtcatgaccagatattgcctcctgtgttttgcatgctaAGAGGGAGACGGACGTCTCAATAAcatcgcacgctaAGATCGAGACCCGACGC chr1:245102453-Alternative-C;Patient-61 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Reference G tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacct ATATACGAACGC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAatatacgaacgcAGATCGAGACCCGACGC chr1:246699788-Reference-G;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Reference G tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacct GGTAGCATTGAC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAggtagcattgacAGATCGAGACCCGACGC chr1:246699788-Reference-G;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative T tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacct AACACCGTACTT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAaacaccgtacttAGATCGAGACCCGACGC chr1:246699788-Alternative-T;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative T tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacct AGCATTCTAACG CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAagcattctaacgAGATCGAGACCCGACGC chr1:246699788-Alternative-T;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Reference G tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacct GTAGCTTCTGAA CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAgtagcttctgaaAGATCGAGACCCGACGC chr1:246699788-Reference-G;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Reference G tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacct CATTGGTCACTT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAcattggtcacttAGATCGAGACCCGACGC chr1:246699788-Reference-G;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Reference G tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacct GTTCGCCTAACC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaGtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAgttcgcctaaccAGATCGAGACCCGACGC chr1:246699788-Reference-G;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative C tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacct CGTCCACGTTGT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAcgtccacgttgtAGATCGAGACCCGACGC chr1:246699788-Alternative-C;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative C tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacct AGCTAATGCCAC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAagctaatgccacAGATCGAGACCCGACGC chr1:246699788-Alternative-C;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative C tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacct ACGTGACAAGAT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAacgtgacaagatAGATCGAGACCCGACGC chr1:246699788-Alternative-C;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative T tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacct CTAGATCGAACC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAActagatcgaaccAGATCGAGACCCGACGC chr1:246699788-Alternative-T;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative C tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacct AGGACGGTTCGA CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAaggacggttcgaAGATCGAGACCCGACGC chr1:246699788-Alternative-C;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Variant A tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacct GCAATCGAGTGG CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAgcaatcgagtggAGATCGAGACCCGACGC chr1:246699788-Variant-A;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative T tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacct GACGAATTCTGG CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAgacgaattctggAGATCGAGACCCGACGC chr1:246699788-Alternative-T;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative C tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacct CAGGCTATACTA CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaCtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAcaggctatactaAGATCGAGACCCGACGC chr1:246699788-Alternative-C;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Alternative T tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacct AATCGGCTATAC CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaTtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAaatcggctatacAGATCGAGACCCGACGC chr1:246699788-Alternative-T;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Variant A tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacct CGTACGAAGATT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAcgtacgaagattAGATCGAGACCCGACGC chr1:246699788-Variant-A;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Variant A tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacct CTAGGTCCGTCA CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAActaggtccgtcaAGATCGAGACCCGACGC chr1:246699788-Variant-A;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Variant A tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacct AGATGTGAAGCT CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAAagatgtgaagctAGATCGAGACCCGACGC chr1:246699788-Variant-A;Patient-81 chr1:246699788-GA DeNovo Patient-81 intergenic 0.000924 0.002564103 -0.18 0.83 0 SMYD3 29143 Variant A tgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacct CTAAGGAGAACG CGACGCGGTCTCTCTCTtgaagaaatagaagatgttaagctgaaaatcataacagataagtaaatgaAtgagggcttctctacctactcagtcacacccctaccttaccatatacctAGAGGGAGACGGACGTCTCAATAActaaggagaacgAGATCGAGACCCGACGC chr1:246699788-Variant-A;Patient-81 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Variant G acccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg ATAGTCCGTCGC CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAatagtccgtcgcAGATCGAGACCCGACGC chr1:3000894-Variant-G;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Variant G acccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg CATGCTCGGCAT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAcatgctcggcatAGATCGAGACCCGACGC chr1:3000894-Variant-G;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative A acccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg CAACGTTGACGC CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAcaacgttgacgcAGATCGAGACCCGACGC chr1:3000894-Alternative-A;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Variant G acccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GCGAAGATAGCG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgcgaagatagcgAGATCGAGACCCGACGC chr1:3000894-Variant-G;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative T acccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg ACGCGTCGGATT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAacgcgtcggattAGATCGAGACCCGACGC chr1:3000894-Alternative-T;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative T acccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg ACCGAAGATACG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAaccgaagatacgAGATCGAGACCCGACGC chr1:3000894-Alternative-T;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative A acccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GGCTCTCGACTT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAggctctcgacttAGATCGAGACCCGACGC chr1:3000894-Alternative-A;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Variant G acccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GTCAGATCGTCC CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgtcagatcgtccAGATCGAGACCCGACGC chr1:3000894-Variant-G;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Variant G acccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg AATCGTATGCAC CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattGgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAaatcgtatgcacAGATCGAGACCCGACGC chr1:3000894-Variant-G;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative T acccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg CAACGCTAGTCG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAcaacgctagtcgAGATCGAGACCCGACGC chr1:3000894-Alternative-T;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative T acccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GACGGTTCAAGG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgacggttcaaggAGATCGAGACCCGACGC chr1:3000894-Alternative-T;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative A acccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg AATAAGATCCGG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAaataagatccggAGATCGAGACCCGACGC chr1:3000894-Alternative-A;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Reference C acccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg AAGCGTGATTCT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAaagcgtgattctAGATCGAGACCCGACGC chr1:3000894-Reference-C;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Reference C acccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GGAGTATCGGCA CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAggagtatcggcaAGATCGAGACCCGACGC chr1:3000894-Reference-C;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Reference C acccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg AGCCTTCTGGAG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAagccttctggagAGATCGAGACCCGACGC chr1:3000894-Reference-C;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative A acccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg CGATCGTGTTCA CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAcgatcgtgttcaAGATCGAGACCCGACGC chr1:3000894-Alternative-A;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative T acccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GTGACTCGCGTT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattTgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgtgactcgcgttAGATCGAGACCCGACGC chr1:3000894-Alternative-T;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Reference C acccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg CACAACGATGTT CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAcacaacgatgttAGATCGAGACCCGACGC chr1:3000894-Reference-C;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Alternative A acccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GATACTCGGTCG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattAgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgatactcggtcgAGATCGAGACCCGACGC chr1:3000894-Alternative-A;Patient-69 chr1:3000894-CG DeNovo Patient-69 intronic PRDM16 0.00016 0.000197961 0.93 12.8 -1.92 PRDM16 15151 Reference C acccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctg GAATCTTACACG CGACGCGGTCTCTCTCTacccagaggcagggcacaggggccgcctctggccctttcaaagggacattCgatctgaagcatggggcccagtaagaagattccagggaacacagtgctgAGAGGGAGACGGACGTCTCAATAAgaatcttacacgAGATCGAGACCCGACGC chr1:3000894-Reference-C;Patient-69 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative C acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GTAAGGACGCAA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAgtaaggacgcaaAGATCGAGACCCGACGC chr1:3274731-Alternative-C;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative C acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GTACTTACGAAG CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAgtacttacgaagAGATCGAGACCCGACGC chr1:3274731-Alternative-C;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative C acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttcc CTATCTCAAGCT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAActatctcaagctAGATCGAGACCCGACGC chr1:3274731-Alternative-C;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative C acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttcc CACTATCGGTAT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAcactatcggtatAGATCGAGACCCGACGC chr1:3274731-Alternative-C;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative T acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttcc CTATTGTCGGAA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAActattgtcggaaAGATCGAGACCCGACGC chr1:3274731-Alternative-T;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Reference G acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GGTTCGAGAATC CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAggttcgagaatcAGATCGAGACCCGACGC chr1:3274731-Reference-G;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Reference G acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GGAGGATCGTCA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAggaggatcgtcaAGATCGAGACCCGACGC chr1:3274731-Reference-G;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Reference G acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttcc AACAACACGCTA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAaacaacacgctaAGATCGAGACCCGACGC chr1:3274731-Reference-G;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Reference G acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttcc AGGCGACTGCAT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAaggcgactgcatAGATCGAGACCCGACGC chr1:3274731-Reference-G;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative T acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttcc CGCGTAAGGTCA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAcgcgtaaggtcaAGATCGAGACCCGACGC chr1:3274731-Alternative-T;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative T acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GGCTAAGGATCG CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAggctaaggatcgAGATCGAGACCCGACGC chr1:3274731-Alternative-T;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Reference G acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttcc ATTCGACCATCA CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaGacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAattcgaccatcaAGATCGAGACCCGACGC chr1:3274731-Reference-G;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative T acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttcc ACCGAAGATCAT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAaccgaagatcatAGATCGAGACCCGACGC chr1:3274731-Alternative-T;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Variant A acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttcc ACAAGCTCACAT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAacaagctcacatAGATCGAGACCCGACGC chr1:3274731-Variant-A;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative T acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttcc CACTAGACGTCG CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaTacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAcactagacgtcgAGATCGAGACCCGACGC chr1:3274731-Alternative-T;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Variant A acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttcc ACGGCTTGGTTC CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAacggcttggttcAGATCGAGACCCGACGC chr1:3274731-Variant-A;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Variant A acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GAGTTGAGGCCT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAgagttgaggcctAGATCGAGACCCGACGC chr1:3274731-Variant-A;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Alternative C acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GTTGATGTTGGT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaCacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAgttgatgttggtAGATCGAGACCCGACGC chr1:3274731-Alternative-C;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Variant A acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttcc GAAGTGGCCGAT CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAgaagtggccgatAGATCGAGACCCGACGC chr1:3274731-Variant-A;Patient-54 chr1:3274731-GA Inherited Patient-54 intronic PRDM16 NA 4.95e-05 0.02 2.93 0.21 ARHGEF16 96258 Variant A acagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttcc ATTGGTTGCGAC CGACGCGGTCTCTCTCTacagtgggcctggccatgacccccttgcccagggcaacgtggaccacacaAacacggtgcaataggccactttctggccttggagggaagtttgtcttccAGAGGGAGACGGACGTCTCAATAAattggttgcgacAGATCGAGACCCGACGC chr1:3274731-Variant-A;Patient-54 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative T aagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ATTCTGCGTGTT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAattctgcgtgttAGATCGAGACCCGACGC chr1:3446452-Alternative-T;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative T aagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca GCGAAGTCGTCA CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAgcgaagtcgtcaAGATCGAGACCCGACGC chr1:3446452-Alternative-T;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Reference A aagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca CGGAATTCGCGA CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAcggaattcgcgaAGATCGAGACCCGACGC chr1:3446452-Reference-A;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative T aagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ACGTAATGCCGG CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAacgtaatgccggAGATCGAGACCCGACGC chr1:3446452-Alternative-T;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Variant G aagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ATTCGGAGTCAT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAattcggagtcatAGATCGAGACCCGACGC chr1:3446452-Variant-G;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative T aagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca AACGACGTGATA CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAaacgacgtgataAGATCGAGACCCGACGC chr1:3446452-Alternative-T;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative T aagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca GGAGTTCGAGGT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagTaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAggagttcgaggtAGATCGAGACCCGACGC chr1:3446452-Alternative-T;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Reference A aagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca AGTCAATCCGAC CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAagtcaatccgacAGATCGAGACCCGACGC chr1:3446452-Reference-A;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Reference A aagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca CATGACGATGTT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAcatgacgatgttAGATCGAGACCCGACGC chr1:3446452-Reference-A;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Reference A aagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ATCGATCAAGTC CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAatcgatcaagtcAGATCGAGACCCGACGC chr1:3446452-Reference-A;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative C aagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ACGAATTGCGGC CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAacgaattgcggcAGATCGAGACCCGACGC chr1:3446452-Alternative-C;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Variant G aagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca AGACCATGACGC CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAagaccatgacgcAGATCGAGACCCGACGC chr1:3446452-Variant-G;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Variant G aagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ATTCGGCAATCA CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAattcggcaatcaAGATCGAGACCCGACGC chr1:3446452-Variant-G;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative C aagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca CAGGCTGACATC CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAcaggctgacatcAGATCGAGACCCGACGC chr1:3446452-Alternative-C;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Reference A aagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca CATAGCAGCTTA CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagAaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAcatagcagcttaAGATCGAGACCCGACGC chr1:3446452-Reference-A;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative C aagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca ACTAGGCATGAG CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAactaggcatgagAGATCGAGACCCGACGC chr1:3446452-Alternative-C;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative C aagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca GAGGTTCAACGG CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAgaggttcaacggAGATCGAGACCCGACGC chr1:3446452-Alternative-C;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Alternative C aagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca GACTACACGTCG CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagCaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAgactacacgtcgAGATCGAGACCCGACGC chr1:3446452-Alternative-C;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Variant G aagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca AGCAAGCGGCAT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAagcaagcggcatAGATCGAGACCCGACGC chr1:3446452-Variant-G;Patient-66 chr1:3446452-AG DeNovo Patient-66 intronic MEGF6 NA 4.95e-05 0.29 7.08 -1.57 ARHGEF16 75461 Variant G aagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtcccca GTTATGAACGCT CGACGCGGTCTCTCTCTaagcccacctggacttataggaaacttggagggctctgggcccctgccagGaagctccgctcagggcagttatcaagttccaagccctgctttgtccccaAGAGGGAGACGGACGTCTCAATAAgttatgaacgctAGATCGAGACCCGACGC chr1:3446452-Variant-G;Patient-66 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative T cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GAGGTAACGTGC CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgaggtaacgtgcAGATCGAGACCCGACGC chr1:4714794-Alternative-T;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Reference C cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AGCCGACCTCAT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAagccgacctcatAGATCGAGACCCGACGC chr1:4714794-Reference-C;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative T cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct CATGAGGACCAC CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAcatgaggaccacAGATCGAGACCCGACGC chr1:4714794-Alternative-T;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Variant A cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AGATCGAGCGTC CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAagatcgagcgtcAGATCGAGACCCGACGC chr1:4714794-Variant-A;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Variant A cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GTATCGCGACGT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgtatcgcgacgtAGATCGAGACCCGACGC chr1:4714794-Variant-A;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Variant A cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GTGCGCTATACG CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgtgcgctatacgAGATCGAGACCCGACGC chr1:4714794-Variant-A;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Variant A cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct ACCGGACTGACA CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAaccggactgacaAGATCGAGACCCGACGC chr1:4714794-Variant-A;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative T cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GTCGCTTCACCA CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgtcgcttcaccaAGATCGAGACCCGACGC chr1:4714794-Alternative-T;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Reference C cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AGGCCGACATCA CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAaggccgacatcaAGATCGAGACCCGACGC chr1:4714794-Reference-C;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Reference C cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AATCGACAGCAT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAaatcgacagcatAGATCGAGACCCGACGC chr1:4714794-Reference-C;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Reference C cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct ATCGCTTCCGGT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAatcgcttccggtAGATCGAGACCCGACGC chr1:4714794-Reference-C;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Reference C cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct ATTCGTACCGTT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaCgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAattcgtaccgttAGATCGAGACCCGACGC chr1:4714794-Reference-C;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative G cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct CATAAGCGAGGT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAcataagcgaggtAGATCGAGACCCGACGC chr1:4714794-Alternative-G;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative T cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AACTTGTCGTCT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAaacttgtcgtctAGATCGAGACCCGACGC chr1:4714794-Alternative-T;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative T cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AGCAACTGGTGG CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaTgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAagcaactggtggAGATCGAGACCCGACGC chr1:4714794-Alternative-T;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Variant A cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GACGCGTAAGTC CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaAgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgacgcgtaagtcAGATCGAGACCCGACGC chr1:4714794-Variant-A;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative G cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct CGTTAGCGCACA CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAcgttagcgcacaAGATCGAGACCCGACGC chr1:4714794-Alternative-G;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative G cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct AGCATGTGAACA CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAagcatgtgaacaAGATCGAGACCCGACGC chr1:4714794-Alternative-G;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative G cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct CTTAATTCCGAC CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAActtaattccgacAGATCGAGACCCGACGC chr1:4714794-Alternative-G;Patient-22 chr1:4714794-CA Inherited Patient-22 intergenic NA 0.000513 0.39 8.24 0.79 AJAP1 310 Alternative G cgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcct GATCGCGGACAT CGACGCGGTCTCTCTCTcgggatccccgcgcgcctcctccgcgcggcgccgccgccgcgcgtccccaGgccccgcgctccacggcgccctcgccccgcgcgcctctcgtgcccgcctAGAGGGAGACGGACGTCTCAATAAgatcgcggacatAGATCGAGACCCGACGC chr1:4714794-Alternative-G;Patient-22 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative T ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg CGACTAGACAGT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAcgactagacagtAGATCGAGACCCGACGC chr1:889055-Alternative-T;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative T ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GTGCCGAAGGTT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgtgccgaaggttAGATCGAGACCCGACGC chr1:889055-Alternative-T;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative C ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AGTAGAACACAC CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAagtagaacacacAGATCGAGACCCGACGC chr1:889055-Alternative-C;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Reference G ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AGTGTCGTACAT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAagtgtcgtacatAGATCGAGACCCGACGC chr1:889055-Reference-G;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative T ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GATGGAATACCA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgatggaataccaAGATCGAGACCCGACGC chr1:889055-Alternative-T;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Variant A ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AGACTAGGTAAC CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAagactaggtaacAGATCGAGACCCGACGC chr1:889055-Variant-A;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Variant A ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AATGCTCACGAA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAaatgctcacgaaAGATCGAGACCCGACGC chr1:889055-Variant-A;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative T ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AGTCGTGCAACC CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAagtcgtgcaaccAGATCGAGACCCGACGC chr1:889055-Alternative-T;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Reference G ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg ACGCGTTCGTCA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAacgcgttcgtcaAGATCGAGACCCGACGC chr1:889055-Reference-G;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative C ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GGACATTCAGTT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAggacattcagttAGATCGAGACCCGACGC chr1:889055-Alternative-C;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Variant A ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg CGACATGTGGAG CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAcgacatgtggagAGATCGAGACCCGACGC chr1:889055-Variant-A;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Reference G ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg CAAGCGCGGTAT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAcaagcgcggtatAGATCGAGACCCGACGC chr1:889055-Reference-G;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative C ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg AACAACTAAGCG CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAaacaactaagcgAGATCGAGACCCGACGC chr1:889055-Alternative-C;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Reference G ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GTCGAGTCTGGT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgtcgagtctggtAGATCGAGACCCGACGC chr1:889055-Reference-G;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Reference G ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GACGAAGATCAT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtGgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgacgaagatcatAGATCGAGACCCGACGC chr1:889055-Reference-G;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative C ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GTTGAACTTGAC CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgttgaacttgacAGATCGAGACCCGACGC chr1:889055-Alternative-C;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative C ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GGCCGAATATTA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtCgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAggccgaatattaAGATCGAGACCCGACGC chr1:889055-Alternative-C;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Alternative T ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GTCTCGGACTGA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtTgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAgtctcggactgaAGATCGAGACCCGACGC chr1:889055-Alternative-T;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Variant A ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg ATCGCAGAAGTT CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAatcgcagaagttAGATCGAGACCCGACGC chr1:889055-Variant-A;Patient-16 chr1:889055-GA DeNovo Patient-16 intronic NOC2L NA 4.95e-05 -0.04 2.03 -1.78 NOC2L 5614 Variant A ggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtggggg GGCGGTTACGAA CGACGCGGTCTCTCTCTggggtgggggccaggtgcttctgtggcctctctagccaagcggagccagtAgagtgtgggcaccacctgtgccctggccaggagtgggatgtggtgggggAGAGGGAGACGGACGTCTCAATAAggcggttacgaaAGATCGAGACCCGACGC chr1:889055-Variant-A;Patient-16 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Variant A tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AATAGCGTCTAC CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaatagcgtctacAGATCGAGACCCGACGC chr1:8891900-Variant-A;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative C tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg GGAGAACGAGGT CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAggagaacgaggtAGATCGAGACCCGACGC chr1:8891900-Alternative-C;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Variant A tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AGTTATACGTGC CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAagttatacgtgcAGATCGAGACCCGACGC chr1:8891900-Variant-A;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative C tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AGGACTCTATAC CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaggactctatacAGATCGAGACCCGACGC chr1:8891900-Alternative-C;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Variant A tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AGCGTTCATCTA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAagcgttcatctaAGATCGAGACCCGACGC chr1:8891900-Variant-A;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Variant A tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg GCGACCTTGACA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAgcgaccttgacaAGATCGAGACCCGACGC chr1:8891900-Variant-A;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Variant A tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg CGCCAATTACTT CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccAccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAcgccaattacttAGATCGAGACCCGACGC chr1:8891900-Variant-A;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative C tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg GAGATAGCGATT CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAgagatagcgattAGATCGAGACCCGACGC chr1:8891900-Alternative-C;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Reference G tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AATACGGTGACA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaatacggtgacaAGATCGAGACCCGACGC chr1:8891900-Reference-G;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative T tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg CTGAAGTAACAG CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAActgaagtaacagAGATCGAGACCCGACGC chr1:8891900-Alternative-T;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Reference G tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg AACGATGCTAAG CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaacgatgctaagAGATCGAGACCCGACGC chr1:8891900-Reference-G;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative C tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg CGGATGGCTCTA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAcggatggctctaAGATCGAGACCCGACGC chr1:8891900-Alternative-C;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative T tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg ACCGATAATGAG CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaccgataatgagAGATCGAGACCCGACGC chr1:8891900-Alternative-T;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative T tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg CTCGGTGGTCAA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAActcggtggtcaaAGATCGAGACCCGACGC chr1:8891900-Alternative-T;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Reference G tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg ACCGGTGTAAGG CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAaccggtgtaaggAGATCGAGACCCGACGC chr1:8891900-Reference-G;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative T tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg GGACGTTGATAA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAggacgttgataaAGATCGAGACCCGACGC chr1:8891900-Alternative-T;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative C tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg ACGATTGGACGG CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccCccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAacgattggacggAGATCGAGACCCGACGC chr1:8891900-Alternative-C;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Reference G tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg ACGCCTTGATAA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAacgccttgataaAGATCGAGACCCGACGC chr1:8891900-Reference-G;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Alternative T tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg CATAGACGTAGA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccTccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAcatagacgtagaAGATCGAGACCCGACGC chr1:8891900-Alternative-T;Patient-31 chr1:8891900-GA DeNovo Patient-31 intergenic NA 0.000513 -0.18 0.83 -0.69 ENO1 47250 Reference G tctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcg GGTACGCTTCGA CGACGCGGTCTCTCTCTtctatgttggtcaggctggtcttgaactcctgacctcaagtgatccgcccGccttggcctcccaaagtgctgggattacaggcatgagccaccgtgctcgAGAGGGAGACGGACGTCTCAATAAggtacgcttcgaAGATCGAGACCCGACGC chr1:8891900-Reference-G;Patient-31 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative A atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GGATCAAGACCT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAggatcaagacctAGATCGAGACCCGACGC chr1:8915545-Alternative-A;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative A atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AGCCAGGATTAA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAagccaggattaaAGATCGAGACCCGACGC chr1:8915545-Alternative-A;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Reference T atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaa CTATGCTTCTGA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAActatgcttctgaAGATCGAGACCCGACGC chr1:8915545-Reference-T;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative C atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AGTGTAGGCCGT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAagtgtaggccgtAGATCGAGACCCGACGC chr1:8915545-Alternative-C;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative A atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GTCGTGTTACGG CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgtcgtgttacggAGATCGAGACCCGACGC chr1:8915545-Alternative-A;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative A atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaa ACAATAGTGACG CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAacaatagtgacgAGATCGAGACCCGACGC chr1:8915545-Alternative-A;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Reference T atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GCAGCAGCGTAA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgcagcagcgtaaAGATCGAGACCCGACGC chr1:8915545-Reference-T;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative A atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AAGGAGTCGTTC CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatAgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAaaggagtcgttcAGATCGAGACCCGACGC chr1:8915545-Alternative-A;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Reference T atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GTGATAACGTCT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgtgataacgtctAGATCGAGACCCGACGC chr1:8915545-Reference-T;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Variant G atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AGTGCGATTCAT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAagtgcgattcatAGATCGAGACCCGACGC chr1:8915545-Variant-G;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Variant G atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GCAAGAAGATGT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgcaagaagatgtAGATCGAGACCCGACGC chr1:8915545-Variant-G;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative C atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaa CTCGGTATAGCG CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAActcggtatagcgAGATCGAGACCCGACGC chr1:8915545-Alternative-C;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Reference T atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaa CTTAGACCACGT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAActtagaccacgtAGATCGAGACCCGACGC chr1:8915545-Reference-T;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative C atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaa CTAATACCATGG CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAActaataccatggAGATCGAGACCCGACGC chr1:8915545-Alternative-C;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative C atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaa ATCGTTCGTCTA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAatcgttcgtctaAGATCGAGACCCGACGC chr1:8915545-Alternative-C;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Reference T atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GGTGAATGCGCA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatTgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAggtgaatgcgcaAGATCGAGACCCGACGC chr1:8915545-Reference-T;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Variant G atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AGGCGGTTAGCA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAaggcggttagcaAGATCGAGACCCGACGC chr1:8915545-Variant-G;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Alternative C atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GCCACGAATAAG CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatCgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgccacgaataagAGATCGAGACCCGACGC chr1:8915545-Alternative-C;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Variant G atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaa GCAGTTGTATGT CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAgcagttgtatgtAGATCGAGACCCGACGC chr1:8915545-Variant-G;Patient-84 chr1:8915545-TG Inherited Patient-84 intergenic 9.9e-05 0.000512821 -0.07 1.69 0 RERE 37845 Variant G atgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaa AGATGGAGGTTA CGACGCGGTCTCTCTCTatgcactcagtctggctgacacagtaaaaaaaaaaaaaaaccccagaaatGgacgattttacatgaagtcagtttttttagatattggcaattaattaaaAGAGGGAGACGGACGTCTCAATAAagatggaggttaAGATCGAGACCCGACGC chr1:8915545-Variant-G;Patient-84 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Variant C ccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt GCCTGGATTGAA CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAgcctggattgaaAGATCGAGACCCGACGC chr1:9747970-Variant-C;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Variant C ccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CTATATCAAGCG CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAActatatcaagcgAGATCGAGACCCGACGC chr1:9747970-Variant-C;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Variant C ccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CTTGACGCATAA CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAActtgacgcataaAGATCGAGACCCGACGC chr1:9747970-Variant-C;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Variant C ccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CGATATGCGGAG CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAcgatatgcggagAGATCGAGACCCGACGC chr1:9747970-Variant-C;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Variant C ccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt ACGCGATATCAT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccCccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAacgcgatatcatAGATCGAGACCCGACGC chr1:9747970-Variant-C;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative A ccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt ATAAGACGACGT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAataagacgacgtAGATCGAGACCCGACGC chr1:9747970-Alternative-A;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative A ccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CTCTCAACGACC CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAActctcaacgaccAGATCGAGACCCGACGC chr1:9747970-Alternative-A;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative A ccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt GCGTCGTTCGTT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAgcgtcgttcgttAGATCGAGACCCGACGC chr1:9747970-Alternative-A;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative A ccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CATTAGCATGAG CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAcattagcatgagAGATCGAGACCCGACGC chr1:9747970-Alternative-A;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative A ccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CATGCGGAGCAT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccAccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAcatgcggagcatAGATCGAGACCCGACGC chr1:9747970-Alternative-A;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Reference T ccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt GGTCTTAGTCGG CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAggtcttagtcggAGATCGAGACCCGACGC chr1:9747970-Reference-T;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Reference T ccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt AGTCGATTAGTC CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAagtcgattagtcAGATCGAGACCCGACGC chr1:9747970-Reference-T;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Reference T ccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt AACGTCGGTTAT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAaacgtcggttatAGATCGAGACCCGACGC chr1:9747970-Reference-T;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Reference T ccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt AAGATTCGTACG CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAaagattcgtacgAGATCGAGACCCGACGC chr1:9747970-Reference-T;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Reference T ccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CGAGACAGTAGA CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccTccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAcgagacagtagaAGATCGAGACCCGACGC chr1:9747970-Reference-T;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative G ccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt ACCTCGACTCGT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAacctcgactcgtAGATCGAGACCCGACGC chr1:9747970-Alternative-G;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative G ccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt ACCGCAACATAT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAaccgcaacatatAGATCGAGACCCGACGC chr1:9747970-Alternative-G;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative G ccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt AGGTATTCGTGT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAaggtattcgtgtAGATCGAGACCCGACGC chr1:9747970-Alternative-G;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative G ccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CTCGCGAGCTAA CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAActcgcgagctaaAGATCGAGACCCGACGC chr1:9747970-Alternative-G;Patient-30 chr1:9747970-TC Inherited Patient-30 intronic PIK3CD NA 0.00016 NA NA NA PIK3CD 36179 Alternative G ccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggt CAACACCGTAAT CGACGCGGTCTCTCTCTccaccctggccccccgtcttctcatcctggactccctctcttctctctccGccttggggggtgctctgggcatccgggacccctggcaaggctgccgggtAGAGGGAGACGGACGTCTCAATAAcaacaccgtaatAGATCGAGACCCGACGC chr1:9747970-Alternative-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative T cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GACGAGTCATGT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgacgagtcatgtAGATCGAGACCCGACGC chr1:9786892-Alternative-T;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative T cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt CAAGGACGACAC CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAcaaggacgacacAGATCGAGACCCGACGC chr1:9786892-Alternative-T;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative T cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ACGTCGTCTATT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAacgtcgtctattAGATCGAGACCCGACGC chr1:9786892-Alternative-T;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative T cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ACTTATCCGCTT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAacttatccgcttAGATCGAGACCCGACGC chr1:9786892-Alternative-T;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative T cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt CGAACGCTAGCA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaTtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAcgaacgctagcaAGATCGAGACCCGACGC chr1:9786892-Alternative-T;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Reference G cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GAGTGCTTCGGT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgagtgcttcggtAGATCGAGACCCGACGC chr1:9786892-Reference-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Reference G cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GCCGCGTACTAT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgccgcgtactatAGATCGAGACCCGACGC chr1:9786892-Reference-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Reference G cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt CGCGAGTTCACA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAcgcgagttcacaAGATCGAGACCCGACGC chr1:9786892-Reference-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Reference G cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ATCATCGTCGCG CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAatcatcgtcgcgAGATCGAGACCCGACGC chr1:9786892-Reference-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Reference G cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt CGCTTCAATTCG CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaGtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAcgcttcaattcgAGATCGAGACCCGACGC chr1:9786892-Reference-G;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative C cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GACGTATACTTC CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgacgtatacttcAGATCGAGACCCGACGC chr1:9786892-Alternative-C;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative C cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ACTTCGCTCGGT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAacttcgctcggtAGATCGAGACCCGACGC chr1:9786892-Alternative-C;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative C cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GTCTCGATAAGA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgtctcgataagaAGATCGAGACCCGACGC chr1:9786892-Alternative-C;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative C cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt AATGTAAGTCGC CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAaatgtaagtcgcAGATCGAGACCCGACGC chr1:9786892-Alternative-C;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Alternative C cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GTTACGCGTCGA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaCtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAgttacgcgtcgaAGATCGAGACCCGACGC chr1:9786892-Alternative-C;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Variant A cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt CGGTGTCCGTTA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAcggtgtccgttaAGATCGAGACCCGACGC chr1:9786892-Variant-A;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Variant A cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt GGAGTCGCTCTA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAggagtcgctctaAGATCGAGACCCGACGC chr1:9786892-Variant-A;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Variant A cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt AGGAGTAGTGCA CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAaggagtagtgcaAGATCGAGACCCGACGC chr1:9786892-Variant-A;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Variant A cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ATCGGCGAATAT CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAatcggcgaatatAGATCGAGACCCGACGC chr1:9786892-Variant-A;Patient-30 chr1:9786892-GA Inherited Patient-30 intronic PIK3CD 0.000637 0.000198 NA NA NA PIK3CD 75101 Variant A cctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgt ACGGTATTGTGG CGACGCGGTCTCTCTCTcctgagatgctgggagctctctactaaccatttcattcagtgactctgaaAtccccagagagggacgcatcccagagcaaggtccgggcccccttaacgtAGAGGGAGACGGACGTCTCAATAAacggtattgtggAGATCGAGACCCGACGC chr1:9786892-Variant-A;Patient-30 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Variant G tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CGGTATTAACGA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcggtattaacgaAGATCGAGACCCGACGC chr10:102372770-Variant-G;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Variant G tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac AATCGTCCATTC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAaatcgtccattcAGATCGAGACCCGACGC chr10:102372770-Variant-G;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Variant G tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac ATTCAAGGCTGT CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAattcaaggctgtAGATCGAGACCCGACGC chr10:102372770-Variant-G;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Variant G tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CGATTAGTCTTC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcgattagtcttcAGATCGAGACCCGACGC chr10:102372770-Variant-G;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Variant G tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CGTTACCAATGA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaGttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcgttaccaatgaAGATCGAGACCCGACGC chr10:102372770-Variant-G;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative T tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac AGCCGTACGAAC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAagccgtacgaacAGATCGAGACCCGACGC chr10:102372770-Alternative-T;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative C tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac AGCTGCGCATAT CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAagctgcgcatatAGATCGAGACCCGACGC chr10:102372770-Alternative-C;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative T tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac GTGATCGCTAAT CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAgtgatcgctaatAGATCGAGACCCGACGC chr10:102372770-Alternative-T;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Reference A tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac ATAGCGCTCGAC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAatagcgctcgacAGATCGAGACCCGACGC chr10:102372770-Reference-A;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Reference A tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CGACCGATTATA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcgaccgattataAGATCGAGACCCGACGC chr10:102372770-Reference-A;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative T tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CAGATGTACCGA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcagatgtaccgaAGATCGAGACCCGACGC chr10:102372770-Alternative-T;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Reference A tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CACGAGAATAAC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcacgagaataacAGATCGAGACCCGACGC chr10:102372770-Reference-A;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Reference A tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CTAAGGTGTCTA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAActaaggtgtctaAGATCGAGACCCGACGC chr10:102372770-Reference-A;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative C tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CGTACGGACAAC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcgtacggacaacAGATCGAGACCCGACGC chr10:102372770-Alternative-C;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative C tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CAACGGATAGCG CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAcaacggatagcgAGATCGAGACCCGACGC chr10:102372770-Alternative-C;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative C tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac AGTTGTATCCGA CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAagttgtatccgaAGATCGAGACCCGACGC chr10:102372770-Alternative-C;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Reference A tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac AACTAGACACCG CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaAttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAaactagacaccgAGATCGAGACCCGACGC chr10:102372770-Reference-A;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative T tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac ACGCTAATGCGC CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAAacgctaatgcgcAGATCGAGACCCGACGC chr10:102372770-Alternative-T;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative T tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CTTGGATACGAT CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaTttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAActtggatacgatAGATCGAGACCCGACGC chr10:102372770-Alternative-T;Patient-92 chr10:102372770-AG DeNovo Patient-92 intergenic NA 0.000513 2.21 21.4 5.04 SEC31B 93174 Alternative C tttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaac CTTGTAGTCAAG CGACGCGGTCTCTCTCTtttcacatccaaatggattgcaatttccctccatttagcacctgaaggtaCttagctcgaagagactgccgagtgcgaaacacgttcacggaacattaacAGAGGGAGACGGACGTCTCAATAActtgtagtcaagAGATCGAGACCCGACGC chr10:102372770-Alternative-C;Patient-92 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Reference A gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac AAGTGACTCTAC CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAaagtgactctacAGATCGAGACCCGACGC chr10:103076392-Reference-A;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative C gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GTTGAACGACGG CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgttgaacgacggAGATCGAGACCCGACGC chr10:103076392-Alternative-C;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative C gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac CGTAAGTCGTGC CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAcgtaagtcgtgcAGATCGAGACCCGACGC chr10:103076392-Alternative-C;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative C gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GGACCTCGATTA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAggacctcgattaAGATCGAGACCCGACGC chr10:103076392-Alternative-C;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Reference A gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GGCTATATAGGT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAggctatataggtAGATCGAGACCCGACGC chr10:103076392-Reference-A;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative T gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GTAGGTATGTGA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgtaggtatgtgaAGATCGAGACCCGACGC chr10:103076392-Alternative-T;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative T gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GAATCAAGGAGT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgaatcaaggagtAGATCGAGACCCGACGC chr10:103076392-Alternative-T;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative C gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac CTCGGTATTGAA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAActcggtattgaaAGATCGAGACCCGACGC chr10:103076392-Alternative-C;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Reference A gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GCAGTTCTGGCA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgcagttctggcaAGATCGAGACCCGACGC chr10:103076392-Reference-A;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative C gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac ATCGGTTATCCT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaCgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAatcggttatcctAGATCGAGACCCGACGC chr10:103076392-Alternative-C;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Reference A gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac CAGACACCGTAC CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAcagacaccgtacAGATCGAGACCCGACGC chr10:103076392-Reference-A;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Reference A gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GATAAGTCTCGT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaAgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgataagtctcgtAGATCGAGACCCGACGC chr10:103076392-Reference-A;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative T gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac AATCGATAGACG CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAaatcgatagacgAGATCGAGACCCGACGC chr10:103076392-Alternative-T;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Variant G gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GAGAGCGATAAC CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgagagcgataacAGATCGAGACCCGACGC chr10:103076392-Variant-G;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative T gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GATTAAGCGCGC CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgattaagcgcgcAGATCGAGACCCGACGC chr10:103076392-Alternative-T;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Alternative T gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac CTGCGATGCTGA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaTgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAActgcgatgctgaAGATCGAGACCCGACGC chr10:103076392-Alternative-T;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Variant G gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac ACTCATGCATGA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAactcatgcatgaAGATCGAGACCCGACGC chr10:103076392-Variant-G;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Variant G gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac ACCTATACCGTT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAacctataccgttAGATCGAGACCCGACGC chr10:103076392-Variant-G;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Variant G gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GTCAGTAGTGTT CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgtcagtagtgttAGATCGAGACCCGACGC chr10:103076392-Variant-G;Patient-89 chr10:103076392-AG Inherited Patient-89 intergenic 0.000414 0.000513 0.57 9.97 1.93 BTRC 37397 Variant G gagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaac GTATCAGCGTGA CGACGCGGTCTCTCTCTgagaaacaggaaagaggggtgttgtggagtaaagagaggacaaagtttcaGgaagggagagttcaaaagcatcaaatgatggagaataatagtagttaacAGAGGGAGACGGACGTCTCAATAAgtatcagcgtgaAGATCGAGACCCGACGC chr10:103076392-Variant-G;Patient-89 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Variant C aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag CGCTTCCGTATC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAcgcttccgtatcAGATCGAGACCCGACGC chr10:103103586-Variant-C;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Variant C aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GGTGGTAGGTAC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAggtggtaggtacAGATCGAGACCCGACGC chr10:103103586-Variant-C;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative G aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GACTGACTGATT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgactgactgattAGATCGAGACCCGACGC chr10:103103586-Alternative-G;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Variant C aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GTATAACGGAGT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgtataacggagtAGATCGAGACCCGACGC chr10:103103586-Variant-C;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Variant C aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GCCACGTGATCA CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgccacgtgatcaAGATCGAGACCCGACGC chr10:103103586-Variant-C;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative G aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag CGTGCGATCGAA CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAcgtgcgatcgaaAGATCGAGACCCGACGC chr10:103103586-Alternative-G;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative A aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GTTGATCAAGTC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgttgatcaagtcAGATCGAGACCCGACGC chr10:103103586-Alternative-A;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Variant C aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GGACTCGGCTAT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaCaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAggactcggctatAGATCGAGACCCGACGC chr10:103103586-Variant-C;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative G aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag AATACGTTACGC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAaatacgttacgcAGATCGAGACCCGACGC chr10:103103586-Alternative-G;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Reference T aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag CAGCTCGATAAC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAcagctcgataacAGATCGAGACCCGACGC chr10:103103586-Reference-T;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative G aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GAGTACGCGTCA CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgagtacgcgtcaAGATCGAGACCCGACGC chr10:103103586-Alternative-G;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative G aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag AACAGCAACGAG CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaGaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAaacagcaacgagAGATCGAGACCCGACGC chr10:103103586-Alternative-G;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative A aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GGCTACTATCAT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAggctactatcatAGATCGAGACCCGACGC chr10:103103586-Alternative-A;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative A aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag CTTGCTACGTCG CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAActtgctacgtcgAGATCGAGACCCGACGC chr10:103103586-Alternative-A;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative A aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GATGCATGTTGT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgatgcatgttgtAGATCGAGACCCGACGC chr10:103103586-Alternative-A;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Reference T aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag ACCAAGCGTGAA CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAaccaagcgtgaaAGATCGAGACCCGACGC chr10:103103586-Reference-T;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Reference T aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GAATGGTATCCT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAgaatggtatcctAGATCGAGACCCGACGC chr10:103103586-Reference-T;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Alternative A aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag GGCTAACGGCAT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaAaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAggctaacggcatAGATCGAGACCCGACGC chr10:103103586-Alternative-A;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Reference T aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag ACGAACACAGGT CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAacgaacacaggtAGATCGAGACCCGACGC chr10:103103586-Reference-T;Patient-11 chr10:103103586-TC DeNovo Patient-11 intergenic NA 0.000512821 -0.03 2.17 -0.84 BTRC 10203 Reference T aaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaag AACGACACTATC CGACGCGGTCTCTCTCTaaaaaaaaggaaacatcagataaatcaaaattaaggagcattctacaaaaTaactggcctgtaagcttcaaaagtgtcatggtcatgaaagttaaagaagAGAGGGAGACGGACGTCTCAATAAaacgacactatcAGATCGAGACCCGACGC chr10:103103586-Reference-T;Patient-11 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Reference C tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttgg CACAACCTGTAA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcacaacctgtaaAGATCGAGACCCGACGC chr10:103110821-Reference-C;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Reference C tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GTGGCGCTGTTA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtggcgctgttaAGATCGAGACCCGACGC chr10:103110821-Reference-C;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative G tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttgg ATCTGTTGTCGT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAatctgttgtcgtAGATCGAGACCCGACGC chr10:103110821-Alternative-G;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative G tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GAGTGTAAGCGA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgagtgtaagcgaAGATCGAGACCCGACGC chr10:103110821-Alternative-G;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Variant T tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttgg CGACGTCTAATA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgacgtctaataAGATCGAGACCCGACGC chr10:103110821-Variant-T;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Variant T tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GGTGTAAGCGGT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAggtgtaagcggtAGATCGAGACCCGACGC chr10:103110821-Variant-T;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative G tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GCGTAAGAATGA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcgtaagaatgaAGATCGAGACCCGACGC chr10:103110821-Alternative-G;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative G tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttgg AGTTAGCATGCT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagttagcatgctAGATCGAGACCCGACGC chr10:103110821-Alternative-G;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Variant T tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GTCAGTGCATGC CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtcagtgcatgcAGATCGAGACCCGACGC chr10:103110821-Variant-T;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Reference C tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttgg AGCGGTGATCGT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagcggtgatcgtAGATCGAGACCCGACGC chr10:103110821-Reference-C;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Reference C tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GTACGTAACCGG CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtacgtaaccggAGATCGAGACCCGACGC chr10:103110821-Reference-C;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Reference C tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GAGAGTCCGTCT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccCacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgagagtccgtctAGATCGAGACCCGACGC chr10:103110821-Reference-C;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative A tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttgg ACGACTTGAACG CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacgacttgaacgAGATCGAGACCCGACGC chr10:103110821-Alternative-A;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative A tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttgg AGTAGCGGCCAA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagtagcggccaaAGATCGAGACCCGACGC chr10:103110821-Alternative-A;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative A tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttgg CGCGTTAGGATA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgcgttaggataAGATCGAGACCCGACGC chr10:103110821-Alternative-A;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative A tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GCCTGACGTCAA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcctgacgtcaaAGATCGAGACCCGACGC chr10:103110821-Alternative-A;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative A tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GTTGGACACATT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccAacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgttggacacattAGATCGAGACCCGACGC chr10:103110821-Alternative-A;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Variant T tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttgg CGATTCTGGAGA CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgattctggagaAGATCGAGACCCGACGC chr10:103110821-Variant-T;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Variant T tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttgg GTAGCGCCAGTT CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccTacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtagcgccagttAGATCGAGACCCGACGC chr10:103110821-Variant-T;Patient-30 chr10:103110821-CT Inherited Patient-30 intergenic 0.000829 0.000512821 NA NA NA BTRC 2968 Alternative G tctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttgg AAGAACGTTAGG CGACGCGGTCTCTCTCTtctcctgcatcagcctcctgagtaactaggactacaggtgagcaccacccGacccagctaattttgtatttttcatagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaagaacgttaggAGATCGAGACCCGACGC chr10:103110821-Alternative-G;Patient-30 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Reference T tttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt ACTGTCCGACAC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAactgtccgacacAGATCGAGACCCGACGC chr10:103145389-Reference-T;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Variant G tttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GACGGTTCTGAC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgacggttctgacAGATCGAGACCCGACGC chr10:103145389-Variant-G;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative C tttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GGTCAGTAAGCG CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAggtcagtaagcgAGATCGAGACCCGACGC chr10:103145389-Alternative-C;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Variant G tttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GTGATCCAACGA CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgtgatccaacgaAGATCGAGACCCGACGC chr10:103145389-Variant-G;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Reference T tttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt CAATGGATCGGC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAcaatggatcggcAGATCGAGACCCGACGC chr10:103145389-Reference-T;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative C tttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GAAGTTCTACGG CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgaagttctacggAGATCGAGACCCGACGC chr10:103145389-Alternative-C;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Reference T tttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GCATGTCGAACC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgcatgtcgaaccAGATCGAGACCCGACGC chr10:103145389-Reference-T;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative C tttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt ACGCGAGTAGTC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAacgcgagtagtcAGATCGAGACCCGACGC chr10:103145389-Alternative-C;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative C tttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt AACTTGGACGAC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAaacttggacgacAGATCGAGACCCGACGC chr10:103145389-Alternative-C;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Reference T tttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GTAGGTTCCGCT CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgtaggttccgctAGATCGAGACCCGACGC chr10:103145389-Reference-T;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative C tttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt CGAGTATACACG CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttCtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAcgagtatacacgAGATCGAGACCCGACGC chr10:103145389-Alternative-C;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative A tttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt AGTTGGACTCTA CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAagttggactctaAGATCGAGACCCGACGC chr10:103145389-Alternative-A;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Variant G tttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GTATCGCACATT CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgtatcgcacattAGATCGAGACCCGACGC chr10:103145389-Variant-G;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative A tttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt CACGTGCCGTAA CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAcacgtgccgtaaAGATCGAGACCCGACGC chr10:103145389-Alternative-A;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative A tttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt CGCACCGATAGA CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAcgcaccgatagaAGATCGAGACCCGACGC chr10:103145389-Alternative-A;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Variant G tttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt AGCTGTGCACGT CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAagctgtgcacgtAGATCGAGACCCGACGC chr10:103145389-Variant-G;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Reference T tttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GTCGTCGTACCT CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttTtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgtcgtcgtacctAGATCGAGACCCGACGC chr10:103145389-Reference-T;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Variant G tttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt CGAATATGACGA CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttGtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAcgaatatgacgaAGATCGAGACCCGACGC chr10:103145389-Variant-G;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative A tttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt ACAACGAGATGG CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAacaacgagatggAGATCGAGACCCGACGC chr10:103145389-Alternative-A;Patient-82 chr10:103145389-TG DeNovo Patient-82 intronic BTRC NA 4.95e-05 0.03 3.13 0.52 BTRC 31598 Alternative A tttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggt GTCTCGAGTAAC CGACGCGGTCTCTCTCTtttttctattttctttgttctttctttcttcttcttctttttttttttttAtgtgtgttcttctacttgataattcaaggcttcttaacctttttttggtAGAGGGAGACGGACGTCTCAATAAgtctcgagtaacAGATCGAGACCCGACGC chr10:103145389-Alternative-A;Patient-82 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Variant G agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac AGGAACAGCACG CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAaggaacagcacgAGATCGAGACCCGACGC chr10:103590450-Variant-G;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative C agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GATGGTATGGAG CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgatggtatggagAGATCGAGACCCGACGC chr10:103590450-Alternative-C;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Variant G agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GGCGTAATCGCT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAggcgtaatcgctAGATCGAGACCCGACGC chr10:103590450-Variant-G;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Variant G agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GTACGCAAGCCA CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgtacgcaagccaAGATCGAGACCCGACGC chr10:103590450-Variant-G;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Variant G agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac ACTTCCTCGCGT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAacttcctcgcgtAGATCGAGACCCGACGC chr10:103590450-Variant-G;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Reference A agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac CTCGCTAGGAGT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAActcgctaggagtAGATCGAGACCCGACGC chr10:103590450-Reference-A;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative C agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac CTAACGTCGTAA CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAActaacgtcgtaaAGATCGAGACCCGACGC chr10:103590450-Alternative-C;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Reference A agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac ACTTGTACCGAT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAacttgtaccgatAGATCGAGACCCGACGC chr10:103590450-Reference-A;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Reference A agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac AGATGCGACGAC CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAagatgcgacgacAGATCGAGACCCGACGC chr10:103590450-Reference-A;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative C agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GACCGCATCAAT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgaccgcatcaatAGATCGAGACCCGACGC chr10:103590450-Alternative-C;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Reference A agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac CAGCATTGGTAC CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAcagcattggtacAGATCGAGACCCGACGC chr10:103590450-Reference-A;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative T agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac ACGTACACAGCT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAacgtacacagctAGATCGAGACCCGACGC chr10:103590450-Alternative-T;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative T agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GACGTTGTAAGA CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgacgttgtaagaAGATCGAGACCCGACGC chr10:103590450-Alternative-T;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative C agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GATCATGCGCAG CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgatcatgcgcagAGATCGAGACCCGACGC chr10:103590450-Alternative-C;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Reference A agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac AAGGTGAGCTAA CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacAcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAaaggtgagctaaAGATCGAGACCCGACGC chr10:103590450-Reference-A;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative T agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac CACGACTAGATT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAcacgactagattAGATCGAGACCCGACGC chr10:103590450-Alternative-T;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative C agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac CGTCGAAGTGCT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacCcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAcgtcgaagtgctAGATCGAGACCCGACGC chr10:103590450-Alternative-C;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative T agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GTCAGTTAACAG CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgtcagttaacagAGATCGAGACCCGACGC chr10:103590450-Alternative-T;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Variant G agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GGAGGAATATGA CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacGcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAggaggaatatgaAGATCGAGACCCGACGC chr10:103590450-Variant-G;Patient-65 chr10:103590450-AG Inherited Patient-65 intronic KCNIP2 NA 9.9e-05 0.22 6.08 -1.81 KCNIP2 13226 Alternative T agccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccac GTAACAACTCGT CGACGCGGTCTCTCTCTagccttgccagcacccgccctcgccacgctggtcacgcccacacacacacTcacacacacacacacacgcacgcaggcctggggcacgcccctcccccacAGAGGGAGACGGACGTCTCAATAAgtaacaactcgtAGATCGAGACCCGACGC chr10:103590450-Alternative-T;Patient-65 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Reference C aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CTCAACAAGGTT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAActcaacaaggttAGATCGAGACCCGACGC chr10:104309475-Reference-C;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Reference C aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CTAGCTACGTCC CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAActagctacgtccAGATCGAGACCCGACGC chr10:104309475-Reference-C;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Reference C aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct ACTAGATGGCAT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAactagatggcatAGATCGAGACCCGACGC chr10:104309475-Reference-C;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Reference C aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct ACCGTCGTGCTT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAaccgtcgtgcttAGATCGAGACCCGACGC chr10:104309475-Reference-C;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative A aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CACGGTTGTGGT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAcacggttgtggtAGATCGAGACCCGACGC chr10:104309475-Alternative-A;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative A aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CTGAACAATGAG CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAActgaacaatgagAGATCGAGACCCGACGC chr10:104309475-Alternative-A;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative A aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CGCAATCTGTTA CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAcgcaatctgttaAGATCGAGACCCGACGC chr10:104309475-Alternative-A;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative A aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CGAAGGTGTAAT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAcgaaggtgtaatAGATCGAGACCCGACGC chr10:104309475-Alternative-A;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative A aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct GCGTGATCGATT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgAcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAgcgtgatcgattAGATCGAGACCCGACGC chr10:104309475-Alternative-A;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative T aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CGTAGCGGATGT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAcgtagcggatgtAGATCGAGACCCGACGC chr10:104309475-Alternative-T;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Variant G aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CTCGCTACCAAC CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAActcgctaccaacAGATCGAGACCCGACGC chr10:104309475-Variant-G;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Reference C aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CGTGTGGTGGAA CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgCcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAcgtgtggtggaaAGATCGAGACCCGACGC chr10:104309475-Reference-C;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative T aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct ACTGAGGTGTTA CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAactgaggtgttaAGATCGAGACCCGACGC chr10:104309475-Alternative-T;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative T aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct AGTAGAGTACGT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAagtagagtacgtAGATCGAGACCCGACGC chr10:104309475-Alternative-T;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Variant G aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct CTCTAAGATCCT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAActctaagatcctAGATCGAGACCCGACGC chr10:104309475-Variant-G;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Variant G aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct ACTATACGATGC CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAactatacgatgcAGATCGAGACCCGACGC chr10:104309475-Variant-G;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Variant G aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct GTTATGCTCCAT CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAgttatgctccatAGATCGAGACCCGACGC chr10:104309475-Variant-G;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative T aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct GATTGTCGTGCG CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAgattgtcgtgcgAGATCGAGACCCGACGC chr10:104309475-Alternative-T;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Alternative T aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct ATTGGCGCTAAG CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgTcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAattggcgctaagAGATCGAGACCCGACGC chr10:104309475-Alternative-T;Patient-32 chr10:104309475-CG DeNovo Patient-32 intronic SUFU NA 4.95e-05 0.5 9.34 2.73 SUFU 45755 Variant G aggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagct GTATACGGATGA CGACGCGGTCTCTCTCTaggaaggaatgttccagagccacaaaatttggaactcataattcagagtgGcagcagtagaatttggccaggccaaggtcacatccacatacccgcagctAGAGGGAGACGGACGTCTCAATAAgtatacggatgaAGATCGAGACCCGACGC chr10:104309475-Variant-G;Patient-32 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative G tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CTCGTGTTACGC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAActcgtgttacgcAGATCGAGACCCGACGC chr10:104928358-Alternative-G;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative G tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa AATGAGGTCTTC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAaatgaggtcttcAGATCGAGACCCGACGC chr10:104928358-Alternative-G;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Reference C tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CGTCTATATGAG CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAcgtctatatgagAGATCGAGACCCGACGC chr10:104928358-Reference-C;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative G tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CTAGCGCTCCAA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAActagcgctccaaAGATCGAGACCCGACGC chr10:104928358-Alternative-G;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative G tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa AGATTAGACCAC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAagattagaccacAGATCGAGACCCGACGC chr10:104928358-Alternative-G;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative G tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CTATGTTGAGCA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaGacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAActatgttgagcaAGATCGAGACCCGACGC chr10:104928358-Alternative-G;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Reference C tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa ACAACCAGCGAG CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAacaaccagcgagAGATCGAGACCCGACGC chr10:104928358-Reference-C;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Variant T tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa ACCGATTATGCA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAaccgattatgcaAGATCGAGACCCGACGC chr10:104928358-Variant-T;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Variant T tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa GTGTTAAGACCG CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAgtgttaagaccgAGATCGAGACCCGACGC chr10:104928358-Variant-T;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Reference C tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CGCATCAGGAAC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAcgcatcaggaacAGATCGAGACCCGACGC chr10:104928358-Reference-C;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Variant T tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa GTGATCACCACA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAgtgatcaccacaAGATCGAGACCCGACGC chr10:104928358-Variant-T;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Variant T tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CTACACACGGCA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAActacacacggcaAGATCGAGACCCGACGC chr10:104928358-Variant-T;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative A tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CGCGAATTGCAC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAcgcgaattgcacAGATCGAGACCCGACGC chr10:104928358-Alternative-A;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative A tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa ACAGATATCGTC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAacagatatcgtcAGATCGAGACCCGACGC chr10:104928358-Alternative-A;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative A tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa CATTGGTCCTAC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAcattggtcctacAGATCGAGACCCGACGC chr10:104928358-Alternative-A;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Variant T tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa AAGTTATGTCGG CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaTacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAaagttatgtcggAGATCGAGACCCGACGC chr10:104928358-Variant-T;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Reference C tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa GTCCGCGGATAA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAgtccgcggataaAGATCGAGACCCGACGC chr10:104928358-Reference-C;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative A tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa GGTAGTTGCGTC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAggtagttgcgtcAGATCGAGACCCGACGC chr10:104928358-Alternative-A;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Alternative A tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa AGATGCCGATGC CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaAacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAagatgccgatgcAGATCGAGACCCGACGC chr10:104928358-Alternative-A;Patient-39 chr10:104928358-CT DeNovo Patient-39 intronic NT5C2 NA 4.95e-05 1.63 16.4 3.06 NT5C2 24704 Reference C tcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaa AAGGTATGCACA CGACGCGGTCTCTCTCTtcactatgacatctgagcagctcagcttgtcttctaaccatatagcaaaaCacattccactgaaaggtttggcctgatgacttatcctcagcccagaaaaAGAGGGAGACGGACGTCTCAATAAaaggtatgcacaAGATCGAGACCCGACGC chr10:104928358-Reference-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative C aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc AATGTGGTGTGA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAaatgtggtgtgaAGATCGAGACCCGACGC chr10:104960229-Alternative-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative C aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc ACTAGGCTCATA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAactaggctcataAGATCGAGACCCGACGC chr10:104960229-Alternative-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Variant A aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CTATCCGTCTAA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAActatccgtctaaAGATCGAGACCCGACGC chr10:104960229-Variant-A;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative C aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc ACTACGCGGAAC CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAactacgcggaacAGATCGAGACCCGACGC chr10:104960229-Alternative-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Variant A aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc ATTGTGCTCCAT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAattgtgctccatAGATCGAGACCCGACGC chr10:104960229-Variant-A;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Variant A aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc ACCGCCTATCGT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAaccgcctatcgtAGATCGAGACCCGACGC chr10:104960229-Variant-A;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative C aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CGTTCGATTAAG CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAcgttcgattaagAGATCGAGACCCGACGC chr10:104960229-Alternative-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Variant A aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc GTCGCGATAATA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAgtcgcgataataAGATCGAGACCCGACGC chr10:104960229-Variant-A;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Variant A aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc GCCAACAACCGT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactAtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAgccaacaaccgtAGATCGAGACCCGACGC chr10:104960229-Variant-A;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative C aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc GTAGATCCTCTT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactCtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAgtagatcctcttAGATCGAGACCCGACGC chr10:104960229-Alternative-C;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative G aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CAGCTCGGTAGT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAcagctcggtagtAGATCGAGACCCGACGC chr10:104960229-Alternative-G;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative G aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CAGCGAATCGAC CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAcagcgaatcgacAGATCGAGACCCGACGC chr10:104960229-Alternative-G;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Reference T aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc AGCTGATGTTGT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAagctgatgttgtAGATCGAGACCCGACGC chr10:104960229-Reference-T;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative G aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CAGTCGCACCTA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAcagtcgcacctaAGATCGAGACCCGACGC chr10:104960229-Alternative-G;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative G aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc AGCATGAAGTGT CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAagcatgaagtgtAGATCGAGACCCGACGC chr10:104960229-Alternative-G;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Reference T aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc AATGCAACGCGG CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAaatgcaacgcggAGATCGAGACCCGACGC chr10:104960229-Reference-T;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Reference T aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc GGTGTCTCATTA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAggtgtctcattaAGATCGAGACCCGACGC chr10:104960229-Reference-T;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Reference T aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc AGATACGCCTAC CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAagatacgcctacAGATCGAGACCCGACGC chr10:104960229-Reference-T;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Reference T aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc GTGTACCTTCTA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactTtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAgtgtaccttctaAGATCGAGACCCGACGC chr10:104960229-Reference-T;Patient-39 chr10:104960229-TA DeNovo Patient-39 intergenic NA 0.000513 -0.1 1.4 -0.66 NT5C2 7165 Alternative G aacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagcc CAGATAGGAGAA CGACGCGGTCTCTCTCTaacaaaagaagaagccaggcacagtggcttacacctgtaatcccagcactGtgggaggccaaggcgggcggatcacgaggttaggagttcaagcccagccAGAGGGAGACGGACGTCTCAATAAcagataggagaaAGATCGAGACCCGACGC chr10:104960229-Alternative-G;Patient-39 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative C cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CAAGTCATATGG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAcaagtcatatggAGATCGAGACCCGACGC chr10:105715593-Alternative-C;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative T cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GGTGTTAAGGCG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAggtgttaaggcgAGATCGAGACCCGACGC chr10:105715593-Alternative-T;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Variant G cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GATCGAATCGTT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAgatcgaatcgttAGATCGAGACCCGACGC chr10:105715593-Variant-G;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Variant G cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GGTTGACGATGG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAggttgacgatggAGATCGAGACCCGACGC chr10:105715593-Variant-G;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative C cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CTCGTGCGTGAA CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAActcgtgcgtgaaAGATCGAGACCCGACGC chr10:105715593-Alternative-C;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative T cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat ACAAGCATCGGC CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAacaagcatcggcAGATCGAGACCCGACGC chr10:105715593-Alternative-T;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative C cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat AACTTAAGGTGG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAaacttaaggtggAGATCGAGACCCGACGC chr10:105715593-Alternative-C;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Reference A cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CGGCAGGTTATC CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAcggcaggttatcAGATCGAGACCCGACGC chr10:105715593-Reference-A;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Reference A cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CGTACCAGTGCT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAcgtaccagtgctAGATCGAGACCCGACGC chr10:105715593-Reference-A;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Reference A cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GTGTTGGTCTGG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAgtgttggtctggAGATCGAGACCCGACGC chr10:105715593-Reference-A;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Reference A cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GGTAGCGCATCA CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAggtagcgcatcaAGATCGAGACCCGACGC chr10:105715593-Reference-A;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Reference A cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat ACCTTCGACCAC CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagActctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAaccttcgaccacAGATCGAGACCCGACGC chr10:105715593-Reference-A;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative T cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat AAGTCGAATGGT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAaagtcgaatggtAGATCGAGACCCGACGC chr10:105715593-Alternative-T;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative T cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GCCTGATACAAT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAgcctgatacaatAGATCGAGACCCGACGC chr10:105715593-Alternative-T;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative T cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat ACGCGGACAGTT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagTctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAacgcggacagttAGATCGAGACCCGACGC chr10:105715593-Alternative-T;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative C cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat ATAATCTCGCGT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAataatctcgcgtAGATCGAGACCCGACGC chr10:105715593-Alternative-C;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Variant G cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CGTCTGTCGCAT CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAcgtctgtcgcatAGATCGAGACCCGACGC chr10:105715593-Variant-G;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Variant G cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat CGGAGCCTATGA CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAcggagcctatgaAGATCGAGACCCGACGC chr10:105715593-Variant-G;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Variant G cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat GTCGCAGATTCG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagGctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAgtcgcagattcgAGATCGAGACCCGACGC chr10:105715593-Variant-G;Patient-55 chr10:105715593-AG Inherited Patient-55 intergenic NA 0.000513 -0.17 0.88 -0.77 STN1 37547 Alternative C cagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagat AGTATCGGACGG CGACGCGGTCTCTCTCTcagtgagccaagatcgctccactgcactccagcctgggagacagagcgagCctctggctcaaaaaaaaaagcaaaactccatcttaaaaaaaaaaaagatAGAGGGAGACGGACGTCTCAATAAagtatcggacggAGATCGAGACCCGACGC chr10:105715593-Alternative-C;Patient-55 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative T ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ATAGCTTCGCGG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAatagcttcgcggAGATCGAGACCCGACGC chr10:105814341-Alternative-T;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative T ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt AAGGCTCGATAA CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAaaggctcgataaAGATCGAGACCCGACGC chr10:105814341-Alternative-T;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative T ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CGGATGCTGTGA CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcggatgctgtgaAGATCGAGACCCGACGC chr10:105814341-Alternative-T;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative T ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CACGCGCATTCT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcacgcgcattctAGATCGAGACCCGACGC chr10:105814341-Alternative-T;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Reference G ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CGGAGCGTGTTA CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcggagcgtgttaAGATCGAGACCCGACGC chr10:105814341-Reference-G;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Variant A ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt GAGGTGCGGTAT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAgaggtgcggtatAGATCGAGACCCGACGC chr10:105814341-Variant-A;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Reference G ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt AGGAGTAGGACG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAaggagtaggacgAGATCGAGACCCGACGC chr10:105814341-Reference-G;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Reference G ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt AGTGATCGAAGG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAagtgatcgaaggAGATCGAGACCCGACGC chr10:105814341-Reference-G;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative T ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ACGGCAACGTCT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaTggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAacggcaacgtctAGATCGAGACCCGACGC chr10:105814341-Alternative-T;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Reference G ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CGTCCAATCGAG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcgtccaatcgagAGATCGAGACCCGACGC chr10:105814341-Reference-G;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Variant A ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ACCGTGCGCATT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAaccgtgcgcattAGATCGAGACCCGACGC chr10:105814341-Variant-A;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Variant A ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt GCATTCTATTCG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAgcattctattcgAGATCGAGACCCGACGC chr10:105814341-Variant-A;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Variant A ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt GCAGGTGGAATC CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAgcaggtggaatcAGATCGAGACCCGACGC chr10:105814341-Variant-A;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Variant A ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ACGTGGTGGACA CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaAggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAacgtggtggacaAGATCGAGACCCGACGC chr10:105814341-Variant-A;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative C ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CGACTCAGTACG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcgactcagtacgAGATCGAGACCCGACGC chr10:105814341-Alternative-C;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Reference G ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt GATTGTCGGTAT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaGggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAgattgtcggtatAGATCGAGACCCGACGC chr10:105814341-Reference-G;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative C ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CGTGCTATAAGG CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAcgtgctataaggAGATCGAGACCCGACGC chr10:105814341-Alternative-C;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative C ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ACGTGGTACAGT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAacgtggtacagtAGATCGAGACCCGACGC chr10:105814341-Alternative-C;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative C ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt ATTGTCCGCTAT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAAattgtccgctatAGATCGAGACCCGACGC chr10:105814341-Alternative-C;Patient-49 chr10:105814341-GA Inherited Patient-49 intronic COL17A1 0.000478 0.000796 0.14 4.88 1.18 COL17A1 31296 Alternative C ctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgt CTCAATCTGCAT CGACGCGGTCTCTCTCTctcgagggccccaaagtggaggagctgacttcctgccctggggttgcctaCggagtgaggagggagctggagagaggtgggatcctgtcatcttgaacgtAGAGGGAGACGGACGTCTCAATAActcaatctgcatAGATCGAGACCCGACGC chr10:105814341-Alternative-C;Patient-49 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative A ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GACAACGGACGT CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgacaacggacgtAGATCGAGACCCGACGC chr10:111686451-Alternative-A;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative A ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GTTCGTCCAAGG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgttcgtccaaggAGATCGAGACCCGACGC chr10:111686451-Alternative-A;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Variant T ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GCAGTTAGCTGA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgcagttagctgaAGATCGAGACCCGACGC chr10:111686451-Variant-T;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative A ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac CATCGCGTGGAA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAcatcgcgtggaaAGATCGAGACCCGACGC chr10:111686451-Alternative-A;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Reference C ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac AATATGTCGTCG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAaatatgtcgtcgAGATCGAGACCCGACGC chr10:111686451-Reference-C;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Reference C ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac CACAGCTGAACA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAcacagctgaacaAGATCGAGACCCGACGC chr10:111686451-Reference-C;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Reference C ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GGAATAAGGAGT CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAggaataaggagtAGATCGAGACCCGACGC chr10:111686451-Reference-C;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Reference C ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GGTTAGTGACGG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAggttagtgacggAGATCGAGACCCGACGC chr10:111686451-Reference-C;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Reference C ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac CTGTGCTGCATC CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaCgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAActgtgctgcatcAGATCGAGACCCGACGC chr10:111686451-Reference-C;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative A ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac ACGGTCGTCGAT CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAacggtcgtcgatAGATCGAGACCCGACGC chr10:111686451-Alternative-A;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Variant T ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac CGCGTTGGCTTA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAcgcgttggcttaAGATCGAGACCCGACGC chr10:111686451-Variant-T;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Variant T ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GTGAACTTGCGG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgtgaacttgcggAGATCGAGACCCGACGC chr10:111686451-Variant-T;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative A ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GCAGGCGTGAAT CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaAgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgcaggcgtgaatAGATCGAGACCCGACGC chr10:111686451-Alternative-A;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative G ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac AGTGAATGCCAA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAagtgaatgccaaAGATCGAGACCCGACGC chr10:111686451-Alternative-G;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Variant T ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac ACGACCAACGAG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAacgaccaacgagAGATCGAGACCCGACGC chr10:111686451-Variant-T;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Variant T ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac AGATGCCTCGAC CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaTgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAagatgcctcgacAGATCGAGACCCGACGC chr10:111686451-Variant-T;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative G ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac ACATAGGCCTAA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAacataggcctaaAGATCGAGACCCGACGC chr10:111686451-Alternative-G;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative G ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GCAAGTAACCGG CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgcaagtaaccggAGATCGAGACCCGACGC chr10:111686451-Alternative-G;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative G ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac CATCCATACTGA CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAcatccatactgaAGATCGAGACCCGACGC chr10:111686451-Alternative-G;Patient-93 chr10:111686451-CT DeNovo Patient-93 intergenic NA 0.000513 -0.12 1.25 -2.11 XPNPEP1 3139 Alternative G ggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaac GACGAGTATCTT CGACGCGGTCTCTCTCTggacttccagccctccagaacagtgagacaacaaatttgttttcaaatcaGgcagtttgtgttgctttgttacgaaagccctaggaaaccaatgtaaaacAGAGGGAGACGGACGTCTCAATAAgacgagtatcttAGATCGAGACCCGACGC chr10:111686451-Alternative-G;Patient-93 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative T aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GTTCGTATCGTT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgttcgtatcgttAGATCGAGACCCGACGC chr10:111701222-Alternative-T;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Variant C aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt ACACCACAGGAT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAacaccacaggatAGATCGAGACCCGACGC chr10:111701222-Variant-C;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Variant C aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt CGGAATTGAGAT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAcggaattgagatAGATCGAGACCCGACGC chr10:111701222-Variant-C;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Variant C aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GCGAGATCAACG CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgcgagatcaacgAGATCGAGACCCGACGC chr10:111701222-Variant-C;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Variant C aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt AGATCAGGAGCT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAagatcaggagctAGATCGAGACCCGACGC chr10:111701222-Variant-C;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Variant C aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt CAGTACGCATGC CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgCtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAcagtacgcatgcAGATCGAGACCCGACGC chr10:111701222-Variant-C;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative T aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GGCTTCTAGTAT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAggcttctagtatAGATCGAGACCCGACGC chr10:111701222-Alternative-T;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative A aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt CTACCGTCTAGA CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAActaccgtctagaAGATCGAGACCCGACGC chr10:111701222-Alternative-A;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative A aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt ATCGGAAGTTGT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAatcggaagttgtAGATCGAGACCCGACGC chr10:111701222-Alternative-A;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative A aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GAATTACGTCCA CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgaattacgtccaAGATCGAGACCCGACGC chr10:111701222-Alternative-A;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative A aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GCATTGCGATAT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgcattgcgatatAGATCGAGACCCGACGC chr10:111701222-Alternative-A;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative A aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt CAGCAGCACGTT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgAtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAcagcagcacgttAGATCGAGACCCGACGC chr10:111701222-Alternative-A;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative T aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt ACTATCGACACT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAactatcgacactAGATCGAGACCCGACGC chr10:111701222-Alternative-T;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Reference G aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt ACACCTTAGACT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAacaccttagactAGATCGAGACCCGACGC chr10:111701222-Reference-G;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative T aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt ACTGTGGCGTGA CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAactgtggcgtgaAGATCGAGACCCGACGC chr10:111701222-Alternative-T;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Alternative T aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GATTGTTCTAGG CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgTtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgattgttctaggAGATCGAGACCCGACGC chr10:111701222-Alternative-T;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Reference G aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt GTTCACGAAGTT CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAgttcacgaagttAGATCGAGACCCGACGC chr10:111701222-Reference-G;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Reference G aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt AAGTTACTCCGA CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAaagttactccgaAGATCGAGACCCGACGC chr10:111701222-Reference-G;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Reference G aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt CGATTACAGTAC CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAcgattacagtacAGATCGAGACCCGACGC chr10:111701222-Reference-G;Patient-77 chr10:111701222-GC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA XPNPEP1 17910 Reference G aggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagtt AGTCTAGGCGCA CGACGCGGTCTCTCTCTaggcagaggtggaatacaaggcctggagcacttggaggcctgagtggatgGtgctctgcttctgggtgtggggtagaaggtggattcccaggaagaagttAGAGGGAGACGGACGTCTCAATAAagtctaggcgcaAGATCGAGACCCGACGC chr10:111701222-Reference-G;Patient-77 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Variant G tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac ATCTTGTAAGCG CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAatcttgtaagcgAGATCGAGACCCGACGC chr10:112381032-Variant-G;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative T tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GCCGATAACATA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgccgataacataAGATCGAGACCCGACGC chr10:112381032-Alternative-T;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative T tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac ACTTAATGACCG CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAacttaatgaccgAGATCGAGACCCGACGC chr10:112381032-Alternative-T;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Variant G tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac ACCTTAACGTGA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAaccttaacgtgaAGATCGAGACCCGACGC chr10:112381032-Variant-G;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative T tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GACGACTAGTAA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgacgactagtaaAGATCGAGACCCGACGC chr10:112381032-Alternative-T;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Reference A tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac AGATAGCGTAGT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAagatagcgtagtAGATCGAGACCCGACGC chr10:112381032-Reference-A;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Variant G tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GCGAGTGGTTCT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgcgagtggttctAGATCGAGACCCGACGC chr10:112381032-Variant-G;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Reference A tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac CGTTGTCTCATT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAcgttgtctcattAGATCGAGACCCGACGC chr10:112381032-Reference-A;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative T tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GTTGACTACGAT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgttgactacgatAGATCGAGACCCGACGC chr10:112381032-Alternative-T;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Variant G tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac CATGTTGGACAG CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAcatgttggacagAGATCGAGACCCGACGC chr10:112381032-Variant-G;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Reference A tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac AGATACGTCACG CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAagatacgtcacgAGATCGAGACCCGACGC chr10:112381032-Reference-A;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative T tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac CTGGCATAACAC CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaTtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAActggcataacacAGATCGAGACCCGACGC chr10:112381032-Alternative-T;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Reference A tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GTTAAGATGCGA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgttaagatgcgaAGATCGAGACCCGACGC chr10:112381032-Reference-A;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative C tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac CTTGCATGGTAA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAActtgcatggtaaAGATCGAGACCCGACGC chr10:112381032-Alternative-C;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Reference A tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GTTACGAATCGT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaAtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgttacgaatcgtAGATCGAGACCCGACGC chr10:112381032-Reference-A;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Variant G tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac AGATCCACGTCA CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaGtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAagatccacgtcaAGATCGAGACCCGACGC chr10:112381032-Variant-G;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative C tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GAGTTAGCTAAC CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgagttagctaacAGATCGAGACCCGACGC chr10:112381032-Alternative-C;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative C tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GATGTGTTATGC CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgatgtgttatgcAGATCGAGACCCGACGC chr10:112381032-Alternative-C;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative C tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac GCCGATTGACGT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAgccgattgacgtAGATCGAGACCCGACGC chr10:112381032-Alternative-C;Patient-69 chr10:112381032-AG DeNovo Patient-69 intergenic NA 0.000513 0.56 9.93 -0.76 SMC3 53582 Alternative C tttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagac AGGCTCGTAATT CGACGCGGTCTCTCTCTtttcccaaagccaatacacattggaaagtcttcagagaatgtgaattaaaCtcacaaattactactacatatccaccagtgtggctaaaattaaaaagacAGAGGGAGACGGACGTCTCAATAAaggctcgtaattAGATCGAGACCCGACGC chr10:112381032-Alternative-C;Patient-69 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Reference G aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AAGATAGCGGCG CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAaagatagcggcgAGATCGAGACCCGACGC chr10:113849371-Reference-G;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Reference G aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AGTACCTGGATT CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAagtacctggattAGATCGAGACCCGACGC chr10:113849371-Reference-G;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative T aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc ACACGATTCACA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAacacgattcacaAGATCGAGACCCGACGC chr10:113849371-Alternative-T;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Reference G aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AGTCTATCAGGT CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAagtctatcaggtAGATCGAGACCCGACGC chr10:113849371-Reference-G;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Reference G aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc GTCGAATGCAAT CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAgtcgaatgcaatAGATCGAGACCCGACGC chr10:113849371-Reference-G;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative T aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc GAGTCTCTGTTA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAgagtctctgttaAGATCGAGACCCGACGC chr10:113849371-Alternative-T;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Reference G aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AATACCGGTCTA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaGtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAaataccggtctaAGATCGAGACCCGACGC chr10:113849371-Reference-G;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative T aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc ATAATGAGCGCA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAataatgagcgcaAGATCGAGACCCGACGC chr10:113849371-Alternative-T;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Variant A aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AGGCCGAACATC CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAaggccgaacatcAGATCGAGACCCGACGC chr10:113849371-Variant-A;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative T aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AACTCCACGGAC CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAaactccacggacAGATCGAGACCCGACGC chr10:113849371-Alternative-T;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative T aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc GTACCAACTTCT CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaTtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAgtaccaacttctAGATCGAGACCCGACGC chr10:113849371-Alternative-T;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Variant A aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CGATAAGGACGC CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAcgataaggacgcAGATCGAGACCCGACGC chr10:113849371-Variant-A;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Variant A aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CGGAGTACCACA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAcggagtaccacaAGATCGAGACCCGACGC chr10:113849371-Variant-A;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Variant A aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CTCTTACCACGA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAActcttaccacgaAGATCGAGACCCGACGC chr10:113849371-Variant-A;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Variant A aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CGACGACGTATC CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaAtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAcgacgacgtatcAGATCGAGACCCGACGC chr10:113849371-Variant-A;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative C aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CAACTCTCGTGA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAcaactctcgtgaAGATCGAGACCCGACGC chr10:113849371-Alternative-C;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative C aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc AAGACTGCGAAC CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAaagactgcgaacAGATCGAGACCCGACGC chr10:113849371-Alternative-C;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative C aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc CTCGGATTATGA CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAActcggattatgaAGATCGAGACCCGACGC chr10:113849371-Alternative-C;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative C aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc GTAGAGTAGGTT CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAgtagagtaggttAGATCGAGACCCGACGC chr10:113849371-Alternative-C;Patient-55 chr10:113849371-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 1.2 GPAM 94165 Alternative C aagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctc ATCGATCGCGAG CGACGCGGTCTCTCTCTaagatctctgcagttttgtaattccatgaggctgagaagagggcagctgaCtccagaatgagagatcgttcaatgccagaacaagacatacggatttctcAGAGGGAGACGGACGTCTCAATAAatcgatcgcgagAGATCGAGACCCGACGC chr10:113849371-Alternative-C;Patient-55 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative G accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ACCGATAGGATA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAaccgataggataAGATCGAGACCCGACGC chr10:115778142-Alternative-G;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Reference C accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ACTGGCGAATCG CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAactggcgaatcgAGATCGAGACCCGACGC chr10:115778142-Reference-C;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative A accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc GCAGTGCCTCTT CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAgcagtgcctcttAGATCGAGACCCGACGC chr10:115778142-Alternative-A;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Reference C accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CTGTCGTATGAA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAActgtcgtatgaaAGATCGAGACCCGACGC chr10:115778142-Reference-C;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative A accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CACTGTACGCAG CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcactgtacgcagAGATCGAGACCCGACGC chr10:115778142-Alternative-A;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Reference C accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CAGATTAAGGCG CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcagattaaggcgAGATCGAGACCCGACGC chr10:115778142-Reference-C;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Variant T accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CATAGCTCGACG CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcatagctcgacgAGATCGAGACCCGACGC chr10:115778142-Variant-T;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Reference C accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc AGTAGGTCCGTC CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAagtaggtccgtcAGATCGAGACCCGACGC chr10:115778142-Reference-C;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Variant T accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ACATCTGCGTAA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAacatctgcgtaaAGATCGAGACCCGACGC chr10:115778142-Variant-T;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative A accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc GATACCTGATAC CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAgatacctgatacAGATCGAGACCCGACGC chr10:115778142-Alternative-A;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Variant T accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CGACTTCCAGCT CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcgacttccagctAGATCGAGACCCGACGC chr10:115778142-Variant-T;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative G accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CGTTGTTACAAC CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcgttgttacaacAGATCGAGACCCGACGC chr10:115778142-Alternative-G;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative A accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ACACTTCGCGCA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAacacttcgcgcaAGATCGAGACCCGACGC chr10:115778142-Alternative-A;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Variant T accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ATCGTTAGGAAC CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAatcgttaggaacAGATCGAGACCCGACGC chr10:115778142-Variant-T;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative G accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CGTTGTGGATGC CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcgttgtggatgcAGATCGAGACCCGACGC chr10:115778142-Alternative-G;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative G accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc GACGACAGCCAA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAgacgacagccaaAGATCGAGACCCGACGC chr10:115778142-Alternative-G;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Reference C accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc ATTCCGTGATGA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctCagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAattccgtgatgaAGATCGAGACCCGACGC chr10:115778142-Reference-C;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative G accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc GACGTCCGACTA CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctGagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAgacgtccgactaAGATCGAGACCCGACGC chr10:115778142-Alternative-G;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Variant T accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CGTAGTATGCCG CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctTagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcgtagtatgccgAGATCGAGACCCGACGC chr10:115778142-Variant-T;Patient-37 chr10:115778142-CT DeNovo Patient-37 intergenic 0.000547 0.00154 0.05 3.35 1.85 ADRB1 25663 Alternative A accttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctccc CGTATATCTGCT CGACGCGGTCTCTCTCTaccttattgaatcattttgagaaataaatgggcaaaacatgtaaactgctAagtcaatcacaaactctccataaatgtttaaaaaaaaaaaatccctcccAGAGGGAGACGGACGTCTCAATAAcgtatatctgctAGATCGAGACCCGACGC chr10:115778142-Alternative-A;Patient-37 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative G ggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CAAGAGCAACCT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcaagagcaacctAGATCGAGACCCGACGC chr10:119737237-Alternative-G;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative G ggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CGCAGTTATGCA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcgcagttatgcaAGATCGAGACCCGACGC chr10:119737237-Alternative-G;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative G ggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CGCGTTGCGTTA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcgcgttgcgttaAGATCGAGACCCGACGC chr10:119737237-Alternative-G;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative G ggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GTATCCGGTAAC CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgtatccggtaacAGATCGAGACCCGACGC chr10:119737237-Alternative-G;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative G ggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GCAATCGCATAA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacGgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgcaatcgcataaAGATCGAGACCCGACGC chr10:119737237-Alternative-G;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Variant T ggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GGTGTAATGAGT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAggtgtaatgagtAGATCGAGACCCGACGC chr10:119737237-Variant-T;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Variant T ggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CAGTTACTTGCT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcagttacttgctAGATCGAGACCCGACGC chr10:119737237-Variant-T;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Variant T ggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CTATCACGTACG CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAActatcacgtacgAGATCGAGACCCGACGC chr10:119737237-Variant-T;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative A ggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GAGTAGTCACTT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgagtagtcacttAGATCGAGACCCGACGC chr10:119737237-Alternative-A;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative A ggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CGTTCACAGCGA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcgttcacagcgaAGATCGAGACCCGACGC chr10:119737237-Alternative-A;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Variant T ggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag ATACGCCTCGAA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAatacgcctcgaaAGATCGAGACCCGACGC chr10:119737237-Variant-T;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Variant T ggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GGCGATCTTACG CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacTgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAggcgatcttacgAGATCGAGACCCGACGC chr10:119737237-Variant-T;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative A ggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CGTTAAGTGTAC CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcgttaagtgtacAGATCGAGACCCGACGC chr10:119737237-Alternative-A;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Reference C ggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GATCAGCTGCGT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgatcagctgcgtAGATCGAGACCCGACGC chr10:119737237-Reference-C;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Reference C ggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag CAGCTAATGCTA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAcagctaatgctaAGATCGAGACCCGACGC chr10:119737237-Reference-C;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Reference C ggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GTGCGAAGAGCT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgtgcgaagagctAGATCGAGACCCGACGC chr10:119737237-Reference-C;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative A ggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GGTGGAATTGCG CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAggtggaattgcgAGATCGAGACCCGACGC chr10:119737237-Alternative-A;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Reference C ggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GTACTTGCTGAA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAgtacttgctgaaAGATCGAGACCCGACGC chr10:119737237-Reference-C;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Alternative A ggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag AGCCAGGCAAGT CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacAgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAagccaggcaagtAGATCGAGACCCGACGC chr10:119737237-Alternative-A;Patient-55 chr10:119737237-CT Inherited Patient-55 intergenic 0.000191 0.00103 -0.33 0.29 -0.45 RAB11FIP2 68876 Reference C ggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagag GGTCAATCGCGA CGACGCGGTCTCTCTCTggagcactacctcactccaggacttactataaagctacaataatcatgacCgtgtgactggtgaaataatacacaaatagatcaatggaacagaatagagAGAGGGAGACGGACGTCTCAATAAggtcaatcgcgaAGATCGAGACCCGACGC chr10:119737237-Reference-C;Patient-55 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative T gtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AGTTCTGGATAC CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAagttctggatacAGATCGAGACCCGACGC chr10:120426863-Alternative-T;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative T gtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CGTGATCATCAA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAcgtgatcatcaaAGATCGAGACCCGACGC chr10:120426863-Alternative-T;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative T gtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CAGAGATCCGAA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAcagagatccgaaAGATCGAGACCCGACGC chr10:120426863-Alternative-T;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative T gtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AATAACGACACG CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAaataacgacacgAGATCGAGACCCGACGC chr10:120426863-Alternative-T;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative T gtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AATGCTTCGAGA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttTgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAaatgcttcgagaAGATCGAGACCCGACGC chr10:120426863-Alternative-T;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Variant G gtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GGATCGGTTCGT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAggatcggttcgtAGATCGAGACCCGACGC chr10:120426863-Variant-G;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Variant G gtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AACGCGTCTAAT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAaacgcgtctaatAGATCGAGACCCGACGC chr10:120426863-Variant-G;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Reference A gtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc ACCTAAGCAACG CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAacctaagcaacgAGATCGAGACCCGACGC chr10:120426863-Reference-A;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Variant G gtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CGTTCGGAGCTA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAcgttcggagctaAGATCGAGACCCGACGC chr10:120426863-Variant-G;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Variant G gtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CTGCTATCGACC CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAActgctatcgaccAGATCGAGACCCGACGC chr10:120426863-Variant-G;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Reference A gtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GCCGGATGATCA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAgccggatgatcaAGATCGAGACCCGACGC chr10:120426863-Reference-A;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative C gtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GGATCAACATGA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAggatcaacatgaAGATCGAGACCCGACGC chr10:120426863-Alternative-C;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Variant G gtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GGTACGGAGTCA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttGgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAggtacggagtcaAGATCGAGACCCGACGC chr10:120426863-Variant-G;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative C gtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CTAATCTGCAAG CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAActaatctgcaagAGATCGAGACCCGACGC chr10:120426863-Alternative-C;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative C gtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AATGGATGATGG CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAaatggatgatggAGATCGAGACCCGACGC chr10:120426863-Alternative-C;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Reference A gtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GTATCCTTACGT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAgtatccttacgtAGATCGAGACCCGACGC chr10:120426863-Reference-A;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative C gtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CGCGCGTAACTT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAcgcgcgtaacttAGATCGAGACCCGACGC chr10:120426863-Alternative-C;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Alternative C gtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc CAAGCAGAAGTT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttCgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAcaagcagaagttAGATCGAGACCCGACGC chr10:120426863-Alternative-C;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Reference A gtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc AACGTAGGCGCT CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAaacgtaggcgctAGATCGAGACCCGACGC chr10:120426863-Reference-A;Patient-68 chr10:120426863-AG Inherited Patient-68 intergenic 6.4e-05 0.001025641 0.15 5.07 1.36 PRLHR 71702 Reference A gtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatc GATACACGGCCA CGACGCGGTCTCTCTCTgtagtggcagaattaaatacaaggccccactaaactggaattttaattttAgccctaagatgagaaaagttgaaagatgactttagaattatccccaatcAGAGGGAGACGGACGTCTCAATAAgatacacggccaAGATCGAGACCCGACGC chr10:120426863-Reference-A;Patient-68 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative G ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GTTGTTACGCTA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAgttgttacgctaAGATCGAGACCCGACGC chr10:120721798-Alternative-G;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative G ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GTTCTGGCATAA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAgttctggcataaAGATCGAGACCCGACGC chr10:120721798-Alternative-G;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative T ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag CTTACACGGTAT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAActtacacggtatAGATCGAGACCCGACGC chr10:120721798-Alternative-T;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative G ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag ACTCTCGAACGC CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAactctcgaacgcAGATCGAGACCCGACGC chr10:120721798-Alternative-G;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative T ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GGTTAGGCCAAC CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAggttaggccaacAGATCGAGACCCGACGC chr10:120721798-Alternative-T;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative G ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag CATAACGGTGCA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAcataacggtgcaAGATCGAGACCCGACGC chr10:120721798-Alternative-G;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative G ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GTTAGCTTCGTT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaGccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAgttagcttcgttAGATCGAGACCCGACGC chr10:120721798-Alternative-G;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Variant C ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag ATTGGAACGAGA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAattggaacgagaAGATCGAGACCCGACGC chr10:120721798-Variant-C;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative T ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag AACTCACGGTCG CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAaactcacggtcgAGATCGAGACCCGACGC chr10:120721798-Alternative-T;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Variant C ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag ACCGGATTAACT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAaccggattaactAGATCGAGACCCGACGC chr10:120721798-Variant-C;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Variant C ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag AATAGCTCGGAA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAaatagctcggaaAGATCGAGACCCGACGC chr10:120721798-Variant-C;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Reference A ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GGCCATTCTATT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAggccattctattAGATCGAGACCCGACGC chr10:120721798-Reference-A;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Reference A ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GTTACCAACACT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAgttaccaacactAGATCGAGACCCGACGC chr10:120721798-Reference-A;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Variant C ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag CAGATCCGGTAT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAcagatccggtatAGATCGAGACCCGACGC chr10:120721798-Variant-C;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Reference A ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag ATCTAGCGGTCC CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAatctagcggtccAGATCGAGACCCGACGC chr10:120721798-Reference-A;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative T ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag AGCTCACAAGTT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAagctcacaagttAGATCGAGACCCGACGC chr10:120721798-Alternative-T;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Alternative T ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag ACCACAAGCAGA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaTccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAaccacaagcagaAGATCGAGACCCGACGC chr10:120721798-Alternative-T;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Reference A ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag GTTACCAATGGT CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAgttaccaatggtAGATCGAGACCCGACGC chr10:120721798-Reference-A;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Reference A ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag CTTGCGGCTATC CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaAccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAActtgcggctatcAGATCGAGACCCGACGC chr10:120721798-Reference-A;Patient-87 chr10:120721798-AC Inherited Patient-87 intergenic 3.2e-05 0.000512821 0.03 3.1 0.24 NANOS1 67429 Variant C ttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgag AACACTGAGACA CGACGCGGTCTCTCTCTttatgagcagcgttgcagttttctacgatgcagtaagaaagggaccacaaCccatgtggcttaagtgacagaaatttattgtctccattcaggagatgagAGAGGGAGACGGACGTCTCAATAAaacactgagacaAGATCGAGACCCGACGC chr10:120721798-Variant-C;Patient-87 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative C tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTTGACGGCACA CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActtgacggcacaAGATCGAGACCCGACGC chr10:120829722-Alternative-C;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative C tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTGCGCATGCAT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActgcgcatgcatAGATCGAGACCCGACGC chr10:120829722-Alternative-C;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative C tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTCTAAGCTGTT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActctaagctgttAGATCGAGACCCGACGC chr10:120829722-Alternative-C;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Reference T tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct AGGTGTACGACG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAaggtgtacgacgAGATCGAGACCCGACGC chr10:120829722-Reference-T;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative C tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct ACGCGTTCATCG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAacgcgttcatcgAGATCGAGACCCGACGC chr10:120829722-Alternative-C;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative A tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct GATGATAGTACG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAgatgatagtacgAGATCGAGACCCGACGC chr10:120829722-Alternative-A;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative A tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct ACGCAACGAGGT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAacgcaacgaggtAGATCGAGACCCGACGC chr10:120829722-Alternative-A;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative C tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTGAGTGTCGAC CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacCtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActgagtgtcgacAGATCGAGACCCGACGC chr10:120829722-Alternative-C;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative A tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CAGATGCGACAC CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAcagatgcgacacAGATCGAGACCCGACGC chr10:120829722-Alternative-A;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative A tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct GATGCGACTGAC CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAgatgcgactgacAGATCGAGACCCGACGC chr10:120829722-Alternative-A;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Variant G tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct GGCAATAGGTAA CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAggcaataggtaaAGATCGAGACCCGACGC chr10:120829722-Variant-G;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Reference T tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTAGCTGGTACG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActagctggtacgAGATCGAGACCCGACGC chr10:120829722-Reference-T;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Reference T tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CAGCGAGGACAT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAcagcgaggacatAGATCGAGACCCGACGC chr10:120829722-Reference-T;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Alternative A tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct ACGTATGTCGGC CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacAtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAacgtatgtcggcAGATCGAGACCCGACGC chr10:120829722-Alternative-A;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Reference T tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CAGATGTGCGCA CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAcagatgtgcgcaAGATCGAGACCCGACGC chr10:120829722-Reference-T;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Reference T tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CGATGCGCAATT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacTtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAcgatgcgcaattAGATCGAGACCCGACGC chr10:120829722-Reference-T;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Variant G tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct GGTACGTCACGT CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAggtacgtcacgtAGATCGAGACCCGACGC chr10:120829722-Variant-G;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Variant G tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct AGTAGTCTAGTC CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAagtagtctagtcAGATCGAGACCCGACGC chr10:120829722-Variant-G;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Variant G tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct AATGAGTCGGCG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAAaatgagtcggcgAGATCGAGACCCGACGC chr10:120829722-Variant-G;Patient-99 chr10:120829722-TG DeNovo Patient-99 intronic EIF3A NA 4.95e-05 0 2.69 0.4 EIF3A 10611 Variant G tcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattct CTAGGCGAATCG CGACGCGGTCTCTCTCTtcttcctctataatttcaatcaaatattgtccgtcaaatatacaaaagacGtcaaggtcacatgactacaaaattatatggaacgtctttgtaggattctAGAGGGAGACGGACGTCTCAATAActaggcgaatcgAGATCGAGACCCGACGC chr10:120829722-Variant-G;Patient-99 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Variant G gtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata AAGCGGTCGTAC CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAaagcggtcgtacAGATCGAGACCCGACGC chr10:12109519-Variant-G;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Variant G gtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GAGCATACGGCA CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgagcatacggcaAGATCGAGACCCGACGC chr10:12109519-Variant-G;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative T gtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GCAGGATTCGCT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgcaggattcgctAGATCGAGACCCGACGC chr10:12109519-Alternative-T;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative T gtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GTGTTGAGAGCG CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgtgttgagagcgAGATCGAGACCCGACGC chr10:12109519-Alternative-T;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Variant G gtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata ATATGGTTGCGT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAatatggttgcgtAGATCGAGACCCGACGC chr10:12109519-Variant-G;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative T gtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CAGTAGCCTGAC CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAcagtagcctgacAGATCGAGACCCGACGC chr10:12109519-Alternative-T;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative T gtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GTCTAGCAAGAA CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgtctagcaagaaAGATCGAGACCCGACGC chr10:12109519-Alternative-T;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative T gtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GCGTAAGTAGAT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggTacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgcgtaagtagatAGATCGAGACCCGACGC chr10:12109519-Alternative-T;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative C gtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CTGAGGCTACGT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAActgaggctacgtAGATCGAGACCCGACGC chr10:12109519-Alternative-C;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Variant G gtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata ACCGACATTGAC CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAaccgacattgacAGATCGAGACCCGACGC chr10:12109519-Variant-G;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Variant G gtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CGAGACTGACGA CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggGacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAcgagactgacgaAGATCGAGACCCGACGC chr10:12109519-Variant-G;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Reference A gtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata ACGCTTGCACCT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAacgcttgcacctAGATCGAGACCCGACGC chr10:12109519-Reference-A;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative C gtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GCACGAGAAGAT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgcacgagaagatAGATCGAGACCCGACGC chr10:12109519-Alternative-C;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Reference A gtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata AGATACGAATCG CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAagatacgaatcgAGATCGAGACCCGACGC chr10:12109519-Reference-A;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative C gtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GCGGACGAGATT CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgcggacgagattAGATCGAGACCCGACGC chr10:12109519-Alternative-C;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Reference A gtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GGACGTCGATGA CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAggacgtcgatgaAGATCGAGACCCGACGC chr10:12109519-Reference-A;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative C gtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata GACGGTTGAGCA CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAgacggttgagcaAGATCGAGACCCGACGC chr10:12109519-Alternative-C;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Reference A gtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CACGTGTACGAC CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAcacgtgtacgacAGATCGAGACCCGACGC chr10:12109519-Reference-A;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Alternative C gtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CATGTCATCAAG CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggCacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAcatgtcatcaagAGATCGAGACCCGACGC chr10:12109519-Alternative-C;Patient-29 chr10:12109519-AG DeNovo Patient-29 intergenic NA 0.000513 0.11 4.52 0.2 DHTKD1 1451 Reference A gtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccata CGGTCATTCAAG CGACGCGGTCTCTCTCTgtatgtataatattcctaggagtttggggtatagctgcacagcttactggAacgaaggatgactaaccaggtaaggatgcagactctctctcctaccataAGAGGGAGACGGACGTCTCAATAAcggtcattcaagAGATCGAGACCCGACGC chr10:12109519-Reference-A;Patient-29 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative C tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca AGAGGTAACGAA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAagaggtaacgaaAGATCGAGACCCGACGC chr10:12122567-Alternative-C;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative C tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca ACAACGGACAAG CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAacaacggacaagAGATCGAGACCCGACGC chr10:12122567-Alternative-C;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Reference G tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CTGTTCGCGCAA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAActgttcgcgcaaAGATCGAGACCCGACGC chr10:12122567-Reference-G;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative C tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca ACATCTACGGTT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAacatctacggttAGATCGAGACCCGACGC chr10:12122567-Alternative-C;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative C tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CTAGGTCGATAT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAActaggtcgatatAGATCGAGACCCGACGC chr10:12122567-Alternative-C;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative C tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca GGAACACGTACC CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccCggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAggaacacgtaccAGATCGAGACCCGACGC chr10:12122567-Alternative-C;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Reference G tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CTAGCGGTTGCT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAActagcggttgctAGATCGAGACCCGACGC chr10:12122567-Reference-G;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Variant A tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca AAGGCTGCGTGA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAaaggctgcgtgaAGATCGAGACCCGACGC chr10:12122567-Variant-A;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Reference G tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CAGAGCTCGCTA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAcagagctcgctaAGATCGAGACCCGACGC chr10:12122567-Reference-G;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Variant A tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca GACGAGCCTACA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAgacgagcctacaAGATCGAGACCCGACGC chr10:12122567-Variant-A;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Variant A tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CGACATGGATAA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAcgacatggataaAGATCGAGACCCGACGC chr10:12122567-Variant-A;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative T tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca AGGTGGATGCGT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAaggtggatgcgtAGATCGAGACCCGACGC chr10:12122567-Alternative-T;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative T tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CTAGACGTTGAC CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAActagacgttgacAGATCGAGACCCGACGC chr10:12122567-Alternative-T;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Variant A tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CTAACAGCTGAT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAActaacagctgatAGATCGAGACCCGACGC chr10:12122567-Variant-A;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Reference G tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca AGCACGGATTAA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAagcacggattaaAGATCGAGACCCGACGC chr10:12122567-Reference-G;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Variant A tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca GACGAACACGAC CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccAggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAgacgaacacgacAGATCGAGACCCGACGC chr10:12122567-Variant-A;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative T tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca AGGTTATTGTGC CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAaggttattgtgcAGATCGAGACCCGACGC chr10:12122567-Alternative-T;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Reference G tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CAGATACGTGCG CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccGggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAcagatacgtgcgAGATCGAGACCCGACGC chr10:12122567-Reference-G;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative T tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CGCATCCGAATA CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAcgcatccgaataAGATCGAGACCCGACGC chr10:12122567-Alternative-T;Patient-64 chr10:12122567-GA DeNovo Patient-64 intronic DHTKD1 9.6e-05 4.95e-05 -0.49 0.1 -0.22 DHTKD1 11595 Alternative T tggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggca CATGTTACCTGT CGACGCGGTCTCTCTCTtggctaacacagtgaaaccccatctctgctaaaaatacaaaacattagccTggcgtggtggcgggaacctgtagtcccagttactcgggaggttgaggcaAGAGGGAGACGGACGTCTCAATAAcatgttacctgtAGATCGAGACCCGACGC chr10:12122567-Alternative-T;Patient-64 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative C cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GATTACAGGAGT CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgattacaggagtAGATCGAGACCCGACGC chr10:12140018-Alternative-C;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative C cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg AGCTAGGATTGC CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAagctaggattgcAGATCGAGACCCGACGC chr10:12140018-Alternative-C;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative C cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GCAGCAGTAGGT CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgcagcagtaggtAGATCGAGACCCGACGC chr10:12140018-Alternative-C;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative C cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg AACGCGTGTGGT CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAaacgcgtgtggtAGATCGAGACCCGACGC chr10:12140018-Alternative-C;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative C cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CGTGCTCATACG CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgCttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAcgtgctcatacgAGATCGAGACCCGACGC chr10:12140018-Alternative-C;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Reference G cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GATGCGGCTCTA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgatgcggctctaAGATCGAGACCCGACGC chr10:12140018-Reference-G;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Variant A cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg ATTCAACTGCGA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAattcaactgcgaAGATCGAGACCCGACGC chr10:12140018-Variant-A;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Variant A cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GAGCTGTTCGGT CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgagctgttcggtAGATCGAGACCCGACGC chr10:12140018-Variant-A;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Reference G cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CTCGTTACCATA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAActcgttaccataAGATCGAGACCCGACGC chr10:12140018-Reference-G;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Reference G cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CAAGCGGTATCG CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAcaagcggtatcgAGATCGAGACCCGACGC chr10:12140018-Reference-G;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative T cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg AATGGAATGCGA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAaatggaatgcgaAGATCGAGACCCGACGC chr10:12140018-Alternative-T;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Reference G cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg ATCTCGTCATGT CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAatctcgtcatgtAGATCGAGACCCGACGC chr10:12140018-Reference-G;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative T cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GTAGCGCAAGTC CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgtagcgcaagtcAGATCGAGACCCGACGC chr10:12140018-Alternative-T;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Variant A cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GCGCAATCAATA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgcgcaatcaataAGATCGAGACCCGACGC chr10:12140018-Variant-A;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Reference G cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CACGGTAATGAA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgGttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAcacggtaatgaaAGATCGAGACCCGACGC chr10:12140018-Reference-G;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Variant A cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CTTGATTAACGG CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAActtgattaacggAGATCGAGACCCGACGC chr10:12140018-Variant-A;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative T cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg AGCATATCTGAC CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAagcatatctgacAGATCGAGACCCGACGC chr10:12140018-Alternative-T;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Variant A cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg GCGTACGGAATC CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgAttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAgcgtacggaatcAGATCGAGACCCGACGC chr10:12140018-Variant-A;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative T cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg ATCGGATAACGA CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAatcggataacgaAGATCGAGACCCGACGC chr10:12140018-Alternative-T;Patient-77 chr10:12140018-GA DeNovo Patient-77 intronic DHTKD1 NA 9.9e-05 NA NA NA DHTKD1 29046 Alternative T cagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtg CGACAACGTAAC CGACGCGGTCTCTCTCTcagtcacctgctgaagacacatgttcaggtgggcagcctccaaatggctgTttattgcttctccttcctgctcagcaaaggagctgacgttggtctggtgAGAGGGAGACGGACGTCTCAATAAcgacaacgtaacAGATCGAGACCCGACGC chr10:12140018-Alternative-T;Patient-77 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Variant A agatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CGAGTGTAACGG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAcgagtgtaacggAGATCGAGACCCGACGC chr10:124849529-Variant-A;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Variant A agatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CGACGATCCTGA CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAcgacgatcctgaAGATCGAGACCCGACGC chr10:124849529-Variant-A;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Variant A agatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CGGACATAGTTA CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAcggacatagttaAGATCGAGACCCGACGC chr10:124849529-Variant-A;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Variant A agatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CTACGGTTCCGT CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAActacggttccgtAGATCGAGACCCGACGC chr10:124849529-Variant-A;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative T agatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AGGTTCCGGTCT CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAaggttccggtctAGATCGAGACCCGACGC chr10:124849529-Alternative-T;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Variant A agatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GTAACGAGGTGG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatAacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAgtaacgaggtggAGATCGAGACCCGACGC chr10:124849529-Variant-A;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative C agatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CAATACGCAACG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAcaatacgcaacgAGATCGAGACCCGACGC chr10:124849529-Alternative-C;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative T agatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt ACTTGAATTCGG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAacttgaattcggAGATCGAGACCCGACGC chr10:124849529-Alternative-T;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative C agatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AGCGTAGTGGAC CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAagcgtagtggacAGATCGAGACCCGACGC chr10:124849529-Alternative-C;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative C agatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GGTACGTGACTA CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAggtacgtgactaAGATCGAGACCCGACGC chr10:124849529-Alternative-C;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative C agatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AACAACCGGCAG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAaacaaccggcagAGATCGAGACCCGACGC chr10:124849529-Alternative-C;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative T agatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AATGAGCGAACG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAaatgagcgaacgAGATCGAGACCCGACGC chr10:124849529-Alternative-T;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Reference G agatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AGTAATCCGCGC CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAagtaatccgcgcAGATCGAGACCCGACGC chr10:124849529-Reference-G;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative C agatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GTTAACAGCATC CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatCacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAgttaacagcatcAGATCGAGACCCGACGC chr10:124849529-Alternative-C;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative T agatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CTATGCGCGACT CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAActatgcgcgactAGATCGAGACCCGACGC chr10:124849529-Alternative-T;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Reference G agatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt AACGGTGTAGCG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAaacggtgtagcgAGATCGAGACCCGACGC chr10:124849529-Reference-G;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Reference G agatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GGTCTTCGTTCG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAggtcttcgttcgAGATCGAGACCCGACGC chr10:124849529-Reference-G;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Alternative T agatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GGACATATGGCG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatTacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAggacatatggcgAGATCGAGACCCGACGC chr10:124849529-Alternative-T;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Reference G agatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt CAACGGATGTGG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAcaacggatgtggAGATCGAGACCCGACGC chr10:124849529-Reference-G;Patient-3 chr10:124849529-GA DeNovo Patient-3 intergenic NA 0.000513 -0.36 0.24 -0.45 BUB3 64230 Reference G agatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagctt GACGGCGTTAAG CGACGCGGTCTCTCTCTagatgccatgggtcaggtatttccccactagttgagaaattggacaagatGacgctaaggtactactatcaggttctatgatacgaagacatcaaagcttAGAGGGAGACGGACGTCTCAATAAgacggcgttaagAGATCGAGACCCGACGC chr10:124849529-Reference-G;Patient-3 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative C cactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctat GTCGTCGTTCCA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAgtcgtcgttccaAGATCGAGACCCGACGC chr10:124935000-Alternative-C;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative C cactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctat GGAATATGGCGA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAggaatatggcgaAGATCGAGACCCGACGC chr10:124935000-Alternative-C;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Variant A cactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctat AGCTCGTATTCT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAagctcgtattctAGATCGAGACCCGACGC chr10:124935000-Variant-A;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative C cactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctat CGCAAGATCGTT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAcgcaagatcgttAGATCGAGACCCGACGC chr10:124935000-Alternative-C;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative C cactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctat AGATTCGGAACA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAagattcggaacaAGATCGAGACCCGACGC chr10:124935000-Alternative-C;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative C cactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctat GAATGACGACAG CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggCtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAgaatgacgacagAGATCGAGACCCGACGC chr10:124935000-Alternative-C;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Variant A cactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctat AGTATTGTGCGT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAagtattgtgcgtAGATCGAGACCCGACGC chr10:124935000-Variant-A;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Reference G cactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctat GACGGCTCATAC CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAgacggctcatacAGATCGAGACCCGACGC chr10:124935000-Reference-G;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Variant A cactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctat CTACGTCACCAC CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAActacgtcaccacAGATCGAGACCCGACGC chr10:124935000-Variant-A;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Reference G cactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctat CATGACCTGTAA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAcatgacctgtaaAGATCGAGACCCGACGC chr10:124935000-Reference-G;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Reference G cactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctat ACGCTAGTACTT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAacgctagtacttAGATCGAGACCCGACGC chr10:124935000-Reference-G;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Variant A cactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctat AGAATCGACGGC CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAagaatcgacggcAGATCGAGACCCGACGC chr10:124935000-Variant-A;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative T cactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctat CGCTTACATTGA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAcgcttacattgaAGATCGAGACCCGACGC chr10:124935000-Alternative-T;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Variant A cactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctat GCCGTAGTCGAA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggAtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAgccgtagtcgaaAGATCGAGACCCGACGC chr10:124935000-Variant-A;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Reference G cactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctat CGATAAGACCTT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAcgataagaccttAGATCGAGACCCGACGC chr10:124935000-Reference-G;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Reference G cactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctat GTTGTGAACGAT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggGtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAgttgtgaacgatAGATCGAGACCCGACGC chr10:124935000-Reference-G;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative T cactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctat AGTTGTGTTCCT CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAagttgtgttcctAGATCGAGACCCGACGC chr10:124935000-Alternative-T;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative T cactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctat CAGTTGATGCGG CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAcagttgatgcggAGATCGAGACCCGACGC chr10:124935000-Alternative-T;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative T cactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctat AACAGGTAGTCA CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAaacaggtagtcaAGATCGAGACCCGACGC chr10:124935000-Alternative-T;Patient-68 chr10:124935000-GA Inherited Patient-68 intergenic 0.000637 0.001025641 1.44 15.55 4.34 BUB3 21239 Alternative T cactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctat AAGACTACTACC CGACGCGGTCTCTCTCTcactttaagtattctatatttaattaaaggagtctggtggactgtgctggTtcaacttggttaagctgagaactacatttcccagcatccccttccctatAGAGGGAGACGGACGTCTCAATAAaagactactaccAGATCGAGACCCGACGC chr10:124935000-Alternative-T;Patient-68 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Reference C ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt GTAGTGCATGTT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAgtagtgcatgttAGATCGAGACCCGACGC chr10:124990773-Reference-C;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Reference C ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt GATATCGCTGAT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAgatatcgctgatAGATCGAGACCCGACGC chr10:124990773-Reference-C;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Reference C ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt CACGAGAATCTT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAcacgagaatcttAGATCGAGACCCGACGC chr10:124990773-Reference-C;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Reference C ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt CACGAATGGATT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAcacgaatggattAGATCGAGACCCGACGC chr10:124990773-Reference-C;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Reference C ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AGTGCTTCGTTA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaCccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAagtgcttcgttaAGATCGAGACCCGACGC chr10:124990773-Reference-C;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative G ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AGCTTCTCATGT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAagcttctcatgtAGATCGAGACCCGACGC chr10:124990773-Alternative-G;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative G ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt GTTATACGGAAC CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAgttatacggaacAGATCGAGACCCGACGC chr10:124990773-Alternative-G;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative G ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt GCCTGACATATA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAgcctgacatataAGATCGAGACCCGACGC chr10:124990773-Alternative-G;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative G ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt ATCCGGAGTACG CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAatccggagtacgAGATCGAGACCCGACGC chr10:124990773-Alternative-G;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative T ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt ACGACTCGCGAA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAacgactcgcgaaAGATCGAGACCCGACGC chr10:124990773-Alternative-T;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative G ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt ATTCTTGAGCGA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaGccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAattcttgagcgaAGATCGAGACCCGACGC chr10:124990773-Alternative-G;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative T ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AACTCCGTACAC CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAaactccgtacacAGATCGAGACCCGACGC chr10:124990773-Alternative-T;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Variant A ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt GGTTGGAACGAC CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAggttggaacgacAGATCGAGACCCGACGC chr10:124990773-Variant-A;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Variant A ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt CTTGAATACGCA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAActtgaatacgcaAGATCGAGACCCGACGC chr10:124990773-Variant-A;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Variant A ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AATCGTAGTCAC CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAaatcgtagtcacAGATCGAGACCCGACGC chr10:124990773-Variant-A;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative T ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AGCGTAAGGAAC CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAagcgtaaggaacAGATCGAGACCCGACGC chr10:124990773-Alternative-T;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Variant A ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AGGTGACGTGGT CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAaggtgacgtggtAGATCGAGACCCGACGC chr10:124990773-Variant-A;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative T ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt AGCGTCGAGCAA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAagcgtcgagcaaAGATCGAGACCCGACGC chr10:124990773-Alternative-T;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Variant A ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt CGCGCTAACCTA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaAccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAcgcgctaacctaAGATCGAGACCCGACGC chr10:124990773-Variant-A;Patient-66 chr10:124990773-CA DeNovo Patient-66 intergenic NA 0.000513 0.03 3.06 0.02 BUB3 77012 Alternative T ccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatccttt ACACGGAACTAA CGACGCGGTCTCTCTCTccaaagtgaatggtaggcttgagtcagaaagtcaacagtgatatcacagaTccagtttctttttgtgtctctgctttctagaagtgccacttcatcctttAGAGGGAGACGGACGTCTCAATAAacacggaactaaAGATCGAGACCCGACGC chr10:124990773-Alternative-T;Patient-66 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Variant T tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag AGTAACATGCGA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAagtaacatgcgaAGATCGAGACCCGACGC chr10:126073574-Variant-T;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Variant T tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag ACACGCTACAAC CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAacacgctacaacAGATCGAGACCCGACGC chr10:126073574-Variant-T;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Variant T tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GAGGTACATCTT CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgaggtacatcttAGATCGAGACCCGACGC chr10:126073574-Variant-T;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Variant T tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GACAAGTCGGCA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgacaagtcggcaAGATCGAGACCCGACGC chr10:126073574-Variant-T;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative G tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GTCGAGATTGAA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgtcgagattgaaAGATCGAGACCCGACGC chr10:126073574-Alternative-G;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative G tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag CTTATCTCGGCG CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAActtatctcggcgAGATCGAGACCCGACGC chr10:126073574-Alternative-G;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative G tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag CGCGAACGTACA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAcgcgaacgtacaAGATCGAGACCCGACGC chr10:126073574-Alternative-G;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative G tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag AGCTAACGTGAT CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAagctaacgtgatAGATCGAGACCCGACGC chr10:126073574-Alternative-G;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative G tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GTCGCCTATTAA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaGcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgtcgcctattaaAGATCGAGACCCGACGC chr10:126073574-Alternative-G;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative A tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag ATAGCGTGTTCA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAatagcgtgttcaAGATCGAGACCCGACGC chr10:126073574-Alternative-A;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Variant T tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag ACCTTCACGCAA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaTcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAaccttcacgcaaAGATCGAGACCCGACGC chr10:126073574-Variant-T;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative A tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GCCTTCGCTATC CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgccttcgctatcAGATCGAGACCCGACGC chr10:126073574-Alternative-A;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative A tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GGTATCGGCGAT CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAggtatcggcgatAGATCGAGACCCGACGC chr10:126073574-Alternative-A;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative A tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag CGGTACTGACAG CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAcggtactgacagAGATCGAGACCCGACGC chr10:126073574-Alternative-A;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Alternative A tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GGTATTGCGGAG CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaAcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAggtattgcggagAGATCGAGACCCGACGC chr10:126073574-Alternative-A;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Reference C tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag AGCCAACCGACT CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAagccaaccgactAGATCGAGACCCGACGC chr10:126073574-Reference-C;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Reference C tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GTCTCTGTTAAG CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgtctctgttaagAGATCGAGACCCGACGC chr10:126073574-Reference-C;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Reference C tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag ATCATGTGAACC CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAatcatgtgaaccAGATCGAGACCCGACGC chr10:126073574-Reference-C;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Reference C tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag GATATTCACGAC CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAgatattcacgacAGATCGAGACCCGACGC chr10:126073574-Reference-C;Patient-30 chr10:126073574-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA LHPP 76766 Reference C tgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacag ACGACGTTATCA CGACGCGGTCTCTCTCTtgatcacccctttggccccctcttttgcgatccatttccctcactcctaaCcagcccagaacaaatgcccactgggggccaacctccatgccaggcacagAGAGGGAGACGGACGTCTCAATAAacgacgttatcaAGATCGAGACCCGACGC chr10:126073574-Reference-C;Patient-30 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Reference G ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GAATGCGTATCA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgaatgcgtatcaAGATCGAGACCCGACGC chr10:126196426-Reference-G;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Reference G ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GGCTCACATCGA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAggctcacatcgaAGATCGAGACCCGACGC chr10:126196426-Reference-G;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Reference G ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GTTGAACCTACA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgttgaacctacaAGATCGAGACCCGACGC chr10:126196426-Reference-G;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Reference G ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac AAGGCTCATTCA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAaaggctcattcaAGATCGAGACCCGACGC chr10:126196426-Reference-G;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative T ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CACGACAGGAGA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAcacgacaggagaAGATCGAGACCCGACGC chr10:126196426-Alternative-T;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative T ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac AGCTATGGTTCA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAagctatggttcaAGATCGAGACCCGACGC chr10:126196426-Alternative-T;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative T ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GAGTGCTAACGG CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgagtgctaacggAGATCGAGACCCGACGC chr10:126196426-Alternative-T;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Reference G ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac AGTAAGGACGAA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggGaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAagtaaggacgaaAGATCGAGACCCGACGC chr10:126196426-Reference-G;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative T ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GTAGCCATTGAT CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgtagccattgatAGATCGAGACCCGACGC chr10:126196426-Alternative-T;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative T ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CGTTGGTGTGGT CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggTaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAcgttggtgtggtAGATCGAGACCCGACGC chr10:126196426-Alternative-T;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative A ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac ACGCTATGGTCG CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAacgctatggtcgAGATCGAGACCCGACGC chr10:126196426-Alternative-A;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative A ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CTCTCGTGACGT CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAActctcgtgacgtAGATCGAGACCCGACGC chr10:126196426-Alternative-A;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative A ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CTTAATCTGGAG CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAActtaatctggagAGATCGAGACCCGACGC chr10:126196426-Alternative-A;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Variant C ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GGTGCCTCGAAT CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAggtgcctcgaatAGATCGAGACCCGACGC chr10:126196426-Variant-C;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Variant C ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac AATGAGTTGGCA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAaatgagttggcaAGATCGAGACCCGACGC chr10:126196426-Variant-C;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative A ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CAGGTGTTCTAA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAcaggtgttctaaAGATCGAGACCCGACGC chr10:126196426-Alternative-A;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Alternative A ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GATGCGACGAAG CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggAaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgatgcgacgaagAGATCGAGACCCGACGC chr10:126196426-Alternative-A;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Variant C ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CGGCAGCGTTAT CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAcggcagcgttatAGATCGAGACCCGACGC chr10:126196426-Variant-C;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Variant C ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac GATGTGCTGTTA CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAgatgtgctgttaAGATCGAGACCCGACGC chr10:126196426-Variant-C;Patient-36 chr10:126196426-GC DeNovo Patient-36 intronic LHPP 5.1e-05 0.00153 -0.22 0.61 -1.92 LHPP 46084 Variant C ggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagac CGCACGATTGTC CGACGCGGTCTCTCTCTggaggatttcaggtgtggagggtagacaggatttcaggtgggggggtaggCaggatttcaggtgggggggtaggcaggatttcaggtcgggggggtagacAGAGGGAGACGGACGTCTCAATAAcgcacgattgtcAGATCGAGACCCGACGC chr10:126196426-Variant-C;Patient-36 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Variant C taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GGATCGCATCGT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAggatcgcatcgtAGATCGAGACCCGACGC chr10:126653067-Variant-C;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative G taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GGCTTCTGTTCG CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAggcttctgttcgAGATCGAGACCCGACGC chr10:126653067-Alternative-G;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative G taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ATCACGGCTAAC CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAatcacggctaacAGATCGAGACCCGACGC chr10:126653067-Alternative-G;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative G taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ATCGGATGATGT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAatcggatgatgtAGATCGAGACCCGACGC chr10:126653067-Alternative-G;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Variant C taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GTAGTACGTTGT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAgtagtacgttgtAGATCGAGACCCGACGC chr10:126653067-Variant-C;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Reference T taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa AAGCATACCTGT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAaagcatacctgtAGATCGAGACCCGACGC chr10:126653067-Reference-T;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative A taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ATCCGGACGTTC CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAatccggacgttcAGATCGAGACCCGACGC chr10:126653067-Alternative-A;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative A taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GGCTTGCGTCAT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAggcttgcgtcatAGATCGAGACCCGACGC chr10:126653067-Alternative-A;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Reference T taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GGTAAGCGACAT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAggtaagcgacatAGATCGAGACCCGACGC chr10:126653067-Reference-T;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative G taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GCAACGAGTCGA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAgcaacgagtcgaAGATCGAGACCCGACGC chr10:126653067-Alternative-G;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Variant C taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa AAGGACGTAACA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAaaggacgtaacaAGATCGAGACCCGACGC chr10:126653067-Variant-C;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Variant C taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa AGATTCGTGTTC CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAagattcgtgttcAGATCGAGACCCGACGC chr10:126653067-Variant-C;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative A taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa AGGTAAGCGCAA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAaggtaagcgcaaAGATCGAGACCCGACGC chr10:126653067-Alternative-A;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative G taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ACCAATGCGTGG CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatGtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAaccaatgcgtggAGATCGAGACCCGACGC chr10:126653067-Alternative-G;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Variant C taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ACACCGACGTTA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatCtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAacaccgacgttaAGATCGAGACCCGACGC chr10:126653067-Variant-C;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Reference T taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa AGATTGATCGAC CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAagattgatcgacAGATCGAGACCCGACGC chr10:126653067-Reference-T;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Reference T taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa CTCGTTGTATGT CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAActcgttgtatgtAGATCGAGACCCGACGC chr10:126653067-Reference-T;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Reference T taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa CGATTATTCGTC CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatTtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAcgattattcgtcAGATCGAGACCCGACGC chr10:126653067-Reference-T;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative A taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa GAGCTACATTGA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAgagctacattgaAGATCGAGACCCGACGC chr10:126653067-Alternative-A;Patient-88 chr10:126653067-TC DeNovo Patient-88 intronic ZRANB1 NA 4.95e-05 0.43 8.66 2.18 ZRANB1 22374 Alternative A taaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaa ACCGGTGTAGCA CGACGCGGTCTCTCTCTtaaagcgatttgaagatctccccttcttccaagcaaaagaaggaagttatAtggtgcttagctttagattacctcatctctgtctttgagaaataagaaaAGAGGGAGACGGACGTCTCAATAAaccggtgtagcaAGATCGAGACCCGACGC chr10:126653067-Alternative-A;Patient-88 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Variant T gttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg CAGTCGACTATA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAcagtcgactataAGATCGAGACCCGACGC chr10:129304549-Variant-T;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative G gttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg GCGGTTAGCAGA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAgcggttagcagaAGATCGAGACCCGACGC chr10:129304549-Alternative-G;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative A gttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg GATCAAGCGTAA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAgatcaagcgtaaAGATCGAGACCCGACGC chr10:129304549-Alternative-A;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative G gttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg GGCACGATTATC CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAggcacgattatcAGATCGAGACCCGACGC chr10:129304549-Alternative-G;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative A gttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AGGAACATCACA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaggaacatcacaAGATCGAGACCCGACGC chr10:129304549-Alternative-A;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Variant T gttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AACGGCTCTGGT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaacggctctggtAGATCGAGACCCGACGC chr10:129304549-Variant-T;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Variant T gttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg GCAGCGCATTCA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAgcagcgcattcaAGATCGAGACCCGACGC chr10:129304549-Variant-T;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Variant T gttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg ACGATAGACGAT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAacgatagacgatAGATCGAGACCCGACGC chr10:129304549-Variant-T;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative A gttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AAGCATTGGACA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaagcattggacaAGATCGAGACCCGACGC chr10:129304549-Alternative-A;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative A gttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg CAGCGAGATGCA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAcagcgagatgcaAGATCGAGACCCGACGC chr10:129304549-Alternative-A;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative G gttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AGAATGTGCACA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAagaatgtgcacaAGATCGAGACCCGACGC chr10:129304549-Alternative-G;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative G gttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AGCACCACGTTA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAagcaccacgttaAGATCGAGACCCGACGC chr10:129304549-Alternative-G;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Reference C gttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg CAGGTGGTCGTT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAcaggtggtcgttAGATCGAGACCCGACGC chr10:129304549-Reference-C;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Reference C gttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AATGGCGCCTAT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaatggcgcctatAGATCGAGACCCGACGC chr10:129304549-Reference-C;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Variant T gttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg CATAGACCACAT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggTgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAcatagaccacatAGATCGAGACCCGACGC chr10:129304549-Variant-T;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative A gttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg GGAATTGAACGT CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggAgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAggaattgaacgtAGATCGAGACCCGACGC chr10:129304549-Alternative-A;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Reference C gttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg ACGGCTTAGCCA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAacggcttagccaAGATCGAGACCCGACGC chr10:129304549-Reference-C;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Reference C gttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AAGGCTACCTTA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaaggctaccttaAGATCGAGACCCGACGC chr10:129304549-Reference-C;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Alternative G gttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AAGGCGTCGAGA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggGgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaaggcgtcgagaAGATCGAGACCCGACGC chr10:129304549-Alternative-G;Patient-37 chr10:129304549-CT Inherited Patient-37 intergenic 0.000701 0.000513 -0.03 2.14 0.31 NPS 43063 Reference C gttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatg AACGCGGACCTA CGACGCGGTCTCTCTCTgttgatgagagcatttcctccataactctcaggagagcagaggtagacggCgcccacacagtaatcacgcacttccgcctttggatgtgcagattagatgAGAGGGAGACGGACGTCTCAATAAaacgcggacctaAGATCGAGACCCGACGC chr10:129304549-Reference-C;Patient-37 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Reference C cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa AAGCGTTGTGAT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAaagcgttgtgatAGATCGAGACCCGACGC chr10:129318029-Reference-C;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative G cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CTTGATTGACGA CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAActtgattgacgaAGATCGAGACCCGACGC chr10:129318029-Alternative-G;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative G cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GTGAATTCCGAT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAgtgaattccgatAGATCGAGACCCGACGC chr10:129318029-Alternative-G;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Reference C cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GGTGGTGCGAAT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAggtggtgcgaatAGATCGAGACCCGACGC chr10:129318029-Reference-C;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Variant T cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CGTACGGTTGAC CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcgtacggttgacAGATCGAGACCCGACGC chr10:129318029-Variant-T;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Reference C cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa AAGATAAGCGAG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAaagataagcgagAGATCGAGACCCGACGC chr10:129318029-Reference-C;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative A cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa ATAGTTGTGTCG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAatagttgtgtcgAGATCGAGACCCGACGC chr10:129318029-Alternative-A;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative G cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GTAATGACATGG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAgtaatgacatggAGATCGAGACCCGACGC chr10:129318029-Alternative-G;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative G cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CTATTGGAACGT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAActattggaacgtAGATCGAGACCCGACGC chr10:129318029-Alternative-G;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Reference C cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa AATAGCTACCGC CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAaatagctaccgcAGATCGAGACCCGACGC chr10:129318029-Reference-C;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Reference C cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GACGATCTACCA CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccCggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAgacgatctaccaAGATCGAGACCCGACGC chr10:129318029-Reference-C;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative G cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CGAGCTCTCAAT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccGggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcgagctctcaatAGATCGAGACCCGACGC chr10:129318029-Alternative-G;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Variant T cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CGCTCAATGTGG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcgctcaatgtggAGATCGAGACCCGACGC chr10:129318029-Variant-T;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Variant T cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CGGAGTCTGACA CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcggagtctgacaAGATCGAGACCCGACGC chr10:129318029-Variant-T;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Variant T cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GGATGCCTATAA CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAggatgcctataaAGATCGAGACCCGACGC chr10:129318029-Variant-T;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative A cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CATTGTCTATCG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcattgtctatcgAGATCGAGACCCGACGC chr10:129318029-Alternative-A;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Variant T cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa CGACAGCACATC CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccTggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAcgacagcacatcAGATCGAGACCCGACGC chr10:129318029-Variant-T;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative A cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GGTGATTCGCGT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAggtgattcgcgtAGATCGAGACCCGACGC chr10:129318029-Alternative-A;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative A cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GCGCGCTATGTT CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAgcgcgctatgttAGATCGAGACCCGACGC chr10:129318029-Alternative-A;Patient-69 chr10:129318029-CT DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.1 4.31 0.24 NPS 29583 Alternative A cactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaa GTACCAACGGAG CGACGCGGTCTCTCTCTcactggtaccaaaacagacacatagaccaatggaacagaatagagagtccAggacacctacaaacatctgatcttcgacaaagctgacaaaaacatgcaaAGAGGGAGACGGACGTCTCAATAAgtaccaacggagAGATCGAGACCCGACGC chr10:129318029-Alternative-A;Patient-69 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative G ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GAGATCGAGCGA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAgagatcgagcgaAGATCGAGACCCGACGC chr10:129341233-Alternative-G;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative G ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GTACCGTGTTCT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAgtaccgtgttctAGATCGAGACCCGACGC chr10:129341233-Alternative-G;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative G ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt AGCTTGCGCTGT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAagcttgcgctgtAGATCGAGACCCGACGC chr10:129341233-Alternative-G;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative G ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt AGTACTAATCGG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAagtactaatcggAGATCGAGACCCGACGC chr10:129341233-Alternative-G;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative T ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GCAACTAGATGA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAgcaactagatgaAGATCGAGACCCGACGC chr10:129341233-Alternative-T;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative T ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CAGATTGGTAAG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAcagattggtaagAGATCGAGACCCGACGC chr10:129341233-Alternative-T;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative T ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CGGCCAATAACG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAcggccaataacgAGATCGAGACCCGACGC chr10:129341233-Alternative-T;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative G ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CTCATAGGTCGA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaGaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAActcataggtcgaAGATCGAGACCCGACGC chr10:129341233-Alternative-G;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative T ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GGTTAATCCGCG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAggttaatccgcgAGATCGAGACCCGACGC chr10:129341233-Alternative-T;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Alternative T ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt AACCGACATAAG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaTaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAaaccgacataagAGATCGAGACCCGACGC chr10:129341233-Alternative-T;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Variant A ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GATCACACGCGT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAgatcacacgcgtAGATCGAGACCCGACGC chr10:129341233-Variant-A;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Reference C ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GGATAGATGACT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAggatagatgactAGATCGAGACCCGACGC chr10:129341233-Reference-C;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Variant A ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt GTCGTGAGAACG CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAgtcgtgagaacgAGATCGAGACCCGACGC chr10:129341233-Variant-A;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Variant A ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt ATCGAAGTACGC CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAatcgaagtacgcAGATCGAGACCCGACGC chr10:129341233-Variant-A;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Variant A ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt ACACGGAATCTT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAacacggaatcttAGATCGAGACCCGACGC chr10:129341233-Variant-A;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Reference C ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt ATACAACGACGA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAatacaacgacgaAGATCGAGACCCGACGC chr10:129341233-Reference-C;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Reference C ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CGGAACATCTTA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAcggaacatcttaAGATCGAGACCCGACGC chr10:129341233-Reference-C;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Reference C ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CGGAGCAACACT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAcggagcaacactAGATCGAGACCCGACGC chr10:129341233-Reference-C;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Variant A ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt CGTAGGCGTACA CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaAaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAcgtaggcgtacaAGATCGAGACCCGACGC chr10:129341233-Variant-A;Patient-88 chr10:129341233-CA DeNovo Patient-88 intergenic NA 0.000512821 -0.06 1.81 -0.53 NPS 6379 Reference C ccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatatt ACTGCTACGTAT CGACGCGGTCTCTCTCTccatgtgtttattgatgggcatttgggctggtttcatattcttgcaattaCaaattgtgctgctataaacatacgtgtgtaaatatcttattcatatattAGAGGGAGACGGACGTCTCAATAAactgctacgtatAGATCGAGACCCGACGC chr10:129341233-Reference-C;Patient-88 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Reference C ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa AGCTAACTACGA CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAagctaactacgaAGATCGAGACCCGACGC chr10:129438701-Reference-C;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Reference C ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa ACTGCTGCCGAT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAactgctgccgatAGATCGAGACCCGACGC chr10:129438701-Reference-C;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Variant T ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GACAATGCGTGC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgacaatgcgtgcAGATCGAGACCCGACGC chr10:129438701-Variant-T;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Variant T ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CGAATGTATCGG CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAcgaatgtatcggAGATCGAGACCCGACGC chr10:129438701-Variant-T;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Reference C ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CTTGAGGTTAAC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAActtgaggttaacAGATCGAGACCCGACGC chr10:129438701-Reference-C;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Reference C ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CTGCGATTGTGG CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAActgcgattgtggAGATCGAGACCCGACGC chr10:129438701-Reference-C;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Variant T ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa AAGTACAGTGCA CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAaagtacagtgcaAGATCGAGACCCGACGC chr10:129438701-Variant-T;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative G ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GATTGCTGCGGT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgattgctgcggtAGATCGAGACCCGACGC chr10:129438701-Alternative-G;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative A ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GTTAGGTTATGC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgttaggttatgcAGATCGAGACCCGACGC chr10:129438701-Alternative-A;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Variant T ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CATTGAAGCCAA CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAcattgaagccaaAGATCGAGACCCGACGC chr10:129438701-Variant-T;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative G ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CGCGAGAGATCA CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAcgcgagagatcaAGATCGAGACCCGACGC chr10:129438701-Alternative-G;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative G ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa AGGAACACCTTC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAaggaacaccttcAGATCGAGACCCGACGC chr10:129438701-Alternative-G;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative G ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa AATCTCACGAAC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAaatctcacgaacAGATCGAGACCCGACGC chr10:129438701-Alternative-G;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Variant T ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa CGTACACTAGAT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacTagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAcgtacactagatAGATCGAGACCCGACGC chr10:129438701-Variant-T;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative G ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa ACAATGCGACGC CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacGagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAacaatgcgacgcAGATCGAGACCCGACGC chr10:129438701-Alternative-G;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative A ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa ATCCGCATAACA CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAatccgcataacaAGATCGAGACCCGACGC chr10:129438701-Alternative-A;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative A ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa ACGTTACGTACG CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAacgttacgtacgAGATCGAGACCCGACGC chr10:129438701-Alternative-A;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative A ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GTCGACGTGGTT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgtcgacgtggttAGATCGAGACCCGACGC chr10:129438701-Alternative-A;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Alternative A ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GTCGGCGATACT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacAagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgtcggcgatactAGATCGAGACCCGACGC chr10:129438701-Alternative-A;Patient-34 chr10:129438701-CT DeNovo Patient-34 intergenic NA 0.000512821 -0.2 0.73 -0.83 NPS 91087 Reference C ttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaa GATACGGATCTT CGACGCGGTCTCTCTCTttcactcattttgtctgggacatcatgggcattttcaactgtcatataacCagcctctttctttcattttgtttttttaagctaaggaactgttcttcaaAGAGGGAGACGGACGTCTCAATAAgatacggatcttAGATCGAGACCCGACGC chr10:129438701-Reference-C;Patient-34 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative T taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GTTAGACCGGAG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgttagaccggagAGATCGAGACCCGACGC chr10:131663322-Alternative-T;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Reference G taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GACAATGCTAAG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgacaatgctaagAGATCGAGACCCGACGC chr10:131663322-Reference-G;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Reference G taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt CTAGCGGATAAT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAActagcggataatAGATCGAGACCCGACGC chr10:131663322-Reference-G;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative T taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt ACGTTGTATCCA CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAacgttgtatccaAGATCGAGACCCGACGC chr10:131663322-Alternative-T;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative T taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt ATAAGGATGTGC CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAataaggatgtgcAGATCGAGACCCGACGC chr10:131663322-Alternative-T;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Variant A taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GTAAGCAAGCGA CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgtaagcaagcgaAGATCGAGACCCGACGC chr10:131663322-Variant-A;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Variant A taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt AGGTAGGCGCTT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAaggtaggcgcttAGATCGAGACCCGACGC chr10:131663322-Variant-A;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative T taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt ACGCGCTACATC CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAacgcgctacatcAGATCGAGACCCGACGC chr10:131663322-Alternative-T;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative T taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GTTCTGTCGATT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacTgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgttctgtcgattAGATCGAGACCCGACGC chr10:131663322-Alternative-T;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Variant A taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt ACCAATGCTTGT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAaccaatgcttgtAGATCGAGACCCGACGC chr10:131663322-Variant-A;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Variant A taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt AATCGTAACAGG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAaatcgtaacaggAGATCGAGACCCGACGC chr10:131663322-Variant-A;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Variant A taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt CACTAGTCGCTA CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacAgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAcactagtcgctaAGATCGAGACCCGACGC chr10:131663322-Variant-A;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative C taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt CTAGCTATAAGG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAActagctataaggAGATCGAGACCCGACGC chr10:131663322-Alternative-C;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Reference G taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GATAATCGAGCA CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgataatcgagcaAGATCGAGACCCGACGC chr10:131663322-Reference-G;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Reference G taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GATAAGCGCATT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgataagcgcattAGATCGAGACCCGACGC chr10:131663322-Reference-G;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Reference G taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt AAGTTCGTTCGA CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacGgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAaagttcgttcgaAGATCGAGACCCGACGC chr10:131663322-Reference-G;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative C taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt ATAACGACCGCG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAataacgaccgcgAGATCGAGACCCGACGC chr10:131663322-Alternative-C;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative C taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt GATTAGCCTTGT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAgattagccttgtAGATCGAGACCCGACGC chr10:131663322-Alternative-C;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative C taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt CAGCTTGACGGT CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAcagcttgacggtAGATCGAGACCCGACGC chr10:131663322-Alternative-C;Patient-92 chr10:131663322-GA DeNovo Patient-92 intronic EBF3 NA 4.95e-05 -0.65 0.03 -5.39 EBF3 98768 Alternative C taagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgt AGCGTATATTCG CGACGCGGTCTCTCTCTtaagcatatgcccaggtcccagtctgtctgcaaacaccaggtctttgcacCgggcctacagcctctacagccagatgtgccaagggactcaggggcatgtAGAGGGAGACGGACGTCTCAATAAagcgtatattcgAGATCGAGACCCGACGC chr10:131663322-Alternative-C;Patient-92 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Variant G ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact ACGTAATCATGC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAacgtaatcatgcAGATCGAGACCCGACGC chr10:13172568-Variant-G;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative T ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact ACTCGGTGCACA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAactcggtgcacaAGATCGAGACCCGACGC chr10:13172568-Alternative-T;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative T ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GCATTCCGGTCT CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgcattccggtctAGATCGAGACCCGACGC chr10:13172568-Alternative-T;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative T ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GAGGTACGGTCA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgaggtacggtcaAGATCGAGACCCGACGC chr10:13172568-Alternative-T;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative T ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact ATCGACTTCTAC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAatcgacttctacAGATCGAGACCCGACGC chr10:13172568-Alternative-T;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative T ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact CAGCAACATCTA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataTtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAcagcaacatctaAGATCGAGACCCGACGC chr10:13172568-Alternative-T;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Variant G ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GCGTTGGTATGC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgcgttggtatgcAGATCGAGACCCGACGC chr10:13172568-Variant-G;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Variant G ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GAGAGCGATTAT CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgagagcgattatAGATCGAGACCCGACGC chr10:13172568-Variant-G;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Variant G ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact AATAGCGTCCTA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAaatagcgtcctaAGATCGAGACCCGACGC chr10:13172568-Variant-G;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Variant G ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact ACGACAGGACAC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataGtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAacgacaggacacAGATCGAGACCCGACGC chr10:13172568-Variant-G;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Reference C ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact CGTCGATATCGG CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAcgtcgatatcggAGATCGAGACCCGACGC chr10:13172568-Reference-C;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Reference C ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GACGATAGAATC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgacgatagaatcAGATCGAGACCCGACGC chr10:13172568-Reference-C;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Reference C ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GCCGGTGTCTAA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgccggtgtctaaAGATCGAGACCCGACGC chr10:13172568-Reference-C;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Reference C ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact AGGTATGAACGA CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAaggtatgaacgaAGATCGAGACCCGACGC chr10:13172568-Reference-C;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative A ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GTACCGTTACGG CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgtaccgttacggAGATCGAGACCCGACGC chr10:13172568-Alternative-A;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative A ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GTATACTCAACG CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgtatactcaacgAGATCGAGACCCGACGC chr10:13172568-Alternative-A;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative A ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact AACCGGATTCAT CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAaaccggattcatAGATCGAGACCCGACGC chr10:13172568-Alternative-A;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative A ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GGAACTTGCGAG CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAggaacttgcgagAGATCGAGACCCGACGC chr10:13172568-Alternative-A;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Alternative A ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GTTAGATATCGG CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataAtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgttagatatcggAGATCGAGACCCGACGC chr10:13172568-Alternative-A;Patient-30 chr10:13172568-CG Inherited Patient-30 intronic OPTN 0.000319 4.95e-05 NA NA NA OPTN 30398 Reference C ctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccact GATAGTGTTCAC CGACGCGGTCTCTCTCTctcaaagctagtaagtgatagaagtgagactaaatcgaatttaagtcataCtccaaaacacccatgatccactgccaacactgtgagatgctgaaccactAGAGGGAGACGGACGTCTCAATAAgatagtgttcacAGATCGAGACCCGACGC chr10:13172568-Reference-C;Patient-30 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Variant G agggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtag ACCAACCTGACG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAaccaacctgacgAGATCGAGACCCGACGC chr10:133674551-Variant-G;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative T agggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtag AGGAGTCTACGC CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAaggagtctacgcAGATCGAGACCCGACGC chr10:133674551-Alternative-T;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative T agggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtag CAGTACGAACCG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAcagtacgaaccgAGATCGAGACCCGACGC chr10:133674551-Alternative-T;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative T agggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtag GACGTAGCCATT CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAgacgtagccattAGATCGAGACCCGACGC chr10:133674551-Alternative-T;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Variant G agggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtag AACTCTAACCGA CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAaactctaaccgaAGATCGAGACCCGACGC chr10:133674551-Variant-G;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative T agggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtag ATAGTCCGCGAC CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAatagtccgcgacAGATCGAGACCCGACGC chr10:133674551-Alternative-T;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Reference A agggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtag CGCTTACAACGG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAcgcttacaacggAGATCGAGACCCGACGC chr10:133674551-Reference-A;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Reference A agggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtag GTAGCTTGGTAT CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAgtagcttggtatAGATCGAGACCCGACGC chr10:133674551-Reference-A;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Reference A agggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtag CTAACTAAGGCG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAActaactaaggcgAGATCGAGACCCGACGC chr10:133674551-Reference-A;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Reference A agggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtag ACACCGATCTTA CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAacaccgatcttaAGATCGAGACCCGACGC chr10:133674551-Reference-A;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative T agggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtag ACTAAGGAGAAG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagTaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAactaaggagaagAGATCGAGACCCGACGC chr10:133674551-Alternative-T;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Reference A agggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtag AGATAACACACG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagAaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAagataacacacgAGATCGAGACCCGACGC chr10:133674551-Reference-A;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Variant G agggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtag GCGGTCCATAGT CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAgcggtccatagtAGATCGAGACCCGACGC chr10:133674551-Variant-G;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative C agggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtag AGGTTATGGAGT CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAaggttatggagtAGATCGAGACCCGACGC chr10:133674551-Alternative-C;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Variant G agggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtag CATTCTGAGCAA CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAcattctgagcaaAGATCGAGACCCGACGC chr10:133674551-Variant-G;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative C agggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtag ACGACGAAGCAT CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAacgacgaagcatAGATCGAGACCCGACGC chr10:133674551-Alternative-C;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative C agggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtag CAAGCTACGATA CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAcaagctacgataAGATCGAGACCCGACGC chr10:133674551-Alternative-C;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative C agggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtag CTCAAGGTATCG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAActcaaggtatcgAGATCGAGACCCGACGC chr10:133674551-Alternative-C;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Variant G agggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtag GGTCGTACATTA CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagGaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAggtcgtacattaAGATCGAGACCCGACGC chr10:133674551-Variant-G;Patient-22 chr10:133674551-AG DeNovo Patient-22 intergenic 0.000268 0.000513 -0.36 0.25 0 PPP2R2D 73403 Alternative C agggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtag GCCAATTGCAAG CGACGCGGTCTCTCTCTagggccggagagggccgcagagggccacagagggccacagagggccacagCaggccgcagagggccacagagggccggagagggctgtagagggctgtagAGAGGGAGACGGACGTCTCAATAAgccaattgcaagAGATCGAGACCCGACGC chr10:133674551-Alternative-C;Patient-22 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Variant C ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ATAGCTGCCATA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAatagctgccataAGATCGAGACCCGACGC chr10:133847289-Variant-C;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Variant C ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ACCTAAGCACCT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAacctaagcacctAGATCGAGACCCGACGC chr10:133847289-Variant-C;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Variant C ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtaggga GCGGCTATCCAT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAgcggctatccatAGATCGAGACCCGACGC chr10:133847289-Variant-C;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Reference T ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ACGCCATTCGAA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAacgccattcgaaAGATCGAGACCCGACGC chr10:133847289-Reference-T;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Variant C ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtaggga CAGCATGCGCTT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAcagcatgcgcttAGATCGAGACCCGACGC chr10:133847289-Variant-C;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative G ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtaggga CTTAGGATACAC CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAActtaggatacacAGATCGAGACCCGACGC chr10:133847289-Alternative-G;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Variant C ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtaggga AGCACCTCATTC CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgCaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAagcacctcattcAGATCGAGACCCGACGC chr10:133847289-Variant-C;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative G ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtaggga GTACTGAACGAA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAgtactgaacgaaAGATCGAGACCCGACGC chr10:133847289-Alternative-G;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative A ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtaggga GGCGCGAGAATA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAggcgcgagaataAGATCGAGACCCGACGC chr10:133847289-Alternative-A;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Reference T ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtaggga GGCTATCAGGCA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAggctatcaggcaAGATCGAGACCCGACGC chr10:133847289-Reference-T;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative A ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtaggga AGTTGATTGCGT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAagttgattgcgtAGATCGAGACCCGACGC chr10:133847289-Alternative-A;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Reference T ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ATCGGCAATCGG CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAatcggcaatcggAGATCGAGACCCGACGC chr10:133847289-Reference-T;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Reference T ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtaggga CTCTGGTTGTAA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAActctggttgtaaAGATCGAGACCCGACGC chr10:133847289-Reference-T;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative A ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtaggga GCCGATCTTAGG CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAgccgatcttaggAGATCGAGACCCGACGC chr10:133847289-Alternative-A;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative A ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtaggga AATCGCGTCTGG CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAaatcgcgtctggAGATCGAGACCCGACGC chr10:133847289-Alternative-A;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative A ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ACACGACTGCGT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgAaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAacacgactgcgtAGATCGAGACCCGACGC chr10:133847289-Alternative-A;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative G ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtaggga AGGCGGCAAGAA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAaggcggcaagaaAGATCGAGACCCGACGC chr10:133847289-Alternative-G;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Reference T ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ACTGGTCTAACT CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgTaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAactggtctaactAGATCGAGACCCGACGC chr10:133847289-Reference-T;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative G ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ATCTCGTGACGG CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAatctcgtgacggAGATCGAGACCCGACGC chr10:133847289-Alternative-G;Patient-55 chr10:133847289-TC Inherited Patient-55 intergenic 0.000223 0.000513 0.26 6.74 0.11 PPP2R2D 99333 Alternative G ggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtaggga ACGGTGCGTCTA CGACGCGGTCTCTCTCTggcatctagcatgtgactatagaactggcaaatgcattttattttctctgGaccagcaatcacagaataccaggaagagttcactttcacactgtagggaAGAGGGAGACGGACGTCTCAATAAacggtgcgtctaAGATCGAGACCCGACGC chr10:133847289-Alternative-G;Patient-55 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative A gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa AGCTGACGGTTC CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAagctgacggttcAGATCGAGACCCGACGC chr10:134507170-Alternative-A;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Reference C gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CGTGCTTACTAT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcgtgcttactatAGATCGAGACCCGACGC chr10:134507170-Reference-C;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative A gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CACGAAGCTAAG CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcacgaagctaagAGATCGAGACCCGACGC chr10:134507170-Alternative-A;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Variant T gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GTCAAGAACGAT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgtcaagaacgatAGATCGAGACCCGACGC chr10:134507170-Variant-T;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Reference C gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GTATTGCAGACT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgtattgcagactAGATCGAGACCCGACGC chr10:134507170-Reference-C;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative A gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GCCGCATTCCAA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgccgcattccaaAGATCGAGACCCGACGC chr10:134507170-Alternative-A;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative G gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CATCGTGTTCTA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcatcgtgttctaAGATCGAGACCCGACGC chr10:134507170-Alternative-G;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Variant T gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CGGAGCCATCAT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcggagccatcatAGATCGAGACCCGACGC chr10:134507170-Variant-T;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Reference C gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GAATGGATAGGT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgaatggataggtAGATCGAGACCCGACGC chr10:134507170-Reference-C;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative A gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GGCGATATCCAA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAggcgatatccaaAGATCGAGACCCGACGC chr10:134507170-Alternative-A;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative A gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CTGCGGTTACCT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaAaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAActgcggttacctAGATCGAGACCCGACGC chr10:134507170-Alternative-A;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Reference C gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GAGATACGTAGT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgagatacgtagtAGATCGAGACCCGACGC chr10:134507170-Reference-C;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Variant T gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa AGGCCGCATCTA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAaggccgcatctaAGATCGAGACCCGACGC chr10:134507170-Variant-T;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Variant T gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CGGACCTTACGA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcggaccttacgaAGATCGAGACCCGACGC chr10:134507170-Variant-T;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Reference C gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa AAGTTCCGGCAT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaCaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAaagttccggcatAGATCGAGACCCGACGC chr10:134507170-Reference-C;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Variant T gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa ACTCGCAATCCT CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaTaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAactcgcaatcctAGATCGAGACCCGACGC chr10:134507170-Variant-T;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative G gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa CGTAGGCTACCA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAcgtaggctaccaAGATCGAGACCCGACGC chr10:134507170-Alternative-G;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative G gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GATTGTAGGTTC CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAgattgtaggttcAGATCGAGACCCGACGC chr10:134507170-Alternative-G;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative G gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa GGACGTAGATTA CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAggacgtagattaAGATCGAGACCCGACGC chr10:134507170-Alternative-G;Patient-58 chr10:134507170-CT Inherited Patient-58 intronic INPP5A 0.000352 0.000346 0.18 5.53 0.11 NKX6-2 92385 Alternative G gaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaa ACGACGATAGCG CGACGCGGTCTCTCTCTgaaactagaagaaaagtaaattaaaccaaaagctggttgtttgaaaaaaaGaataaaatggataaacctctagccagactaagaaaaaaaatgacacaaaAGAGGGAGACGGACGTCTCAATAAacgacgatagcgAGATCGAGACCCGACGC chr10:134507170-Alternative-G;Patient-58 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative G acggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacga ACTTCCTCGAAT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAacttcctcgaatAGATCGAGACCCGACGC chr10:134586354-Alternative-G;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Reference T acggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacga CTATCGTCCACG CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAActatcgtccacgAGATCGAGACCCGACGC chr10:134586354-Reference-T;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Reference T acggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacga GCGATATCAGCT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAgcgatatcagctAGATCGAGACCCGACGC chr10:134586354-Reference-T;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Reference T acggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacga CTGTGTGGTACA CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAActgtgtggtacaAGATCGAGACCCGACGC chr10:134586354-Reference-T;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Reference T acggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacga CTCTAGTAGCTT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAActctagtagcttAGATCGAGACCCGACGC chr10:134586354-Reference-T;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Reference T acggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacga AGCAACCTGTTA CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagTgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAagcaacctgttaAGATCGAGACCCGACGC chr10:134586354-Reference-T;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative G acggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacga CACGAATCGCAC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAcacgaatcgcacAGATCGAGACCCGACGC chr10:134586354-Alternative-G;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative A acggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacga AACAACACGTTC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAaacaacacgttcAGATCGAGACCCGACGC chr10:134586354-Alternative-A;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative A acggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacga ATCTAGGCTGTT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAatctaggctgttAGATCGAGACCCGACGC chr10:134586354-Alternative-A;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative A acggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacga AGGTGACGTCGA CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAaggtgacgtcgaAGATCGAGACCCGACGC chr10:134586354-Alternative-A;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative A acggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacga ATATGGAGATGC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAatatggagatgcAGATCGAGACCCGACGC chr10:134586354-Alternative-A;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative G acggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacga AGTGTTACGAAG CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAagtgttacgaagAGATCGAGACCCGACGC chr10:134586354-Alternative-G;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Variant C acggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacga GCGAGTGTCCAT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAgcgagtgtccatAGATCGAGACCCGACGC chr10:134586354-Variant-C;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Variant C acggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacga CGCAGTATGTGC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAcgcagtatgtgcAGATCGAGACCCGACGC chr10:134586354-Variant-C;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Variant C acggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacga ATCGTCAACTTC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAatcgtcaacttcAGATCGAGACCCGACGC chr10:134586354-Variant-C;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative A acggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacga CGTAATGCTCTT CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagAgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAcgtaatgctcttAGATCGAGACCCGACGC chr10:134586354-Alternative-A;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Variant C acggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacga AAGCAGCATTGA CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAaagcagcattgaAGATCGAGACCCGACGC chr10:134586354-Variant-C;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Variant C acggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacga GCGCATACGTAC CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagCgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAgcgcatacgtacAGATCGAGACCCGACGC chr10:134586354-Variant-C;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative G acggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacga ACTGTGCGATTA CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAactgtgcgattaAGATCGAGACCCGACGC chr10:134586354-Alternative-G;Patient-77 chr10:134586354-TC DeNovo Patient-77 intronic INPP5A NA 0.000792 NA NA NA NKX6-2 13201 Alternative G acggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacga AATAGTCGCAAG CGACGCGGTCTCTCTCTacggacactcagcactgacacggaggccacggcagccgccccacgaagagGgggacggacactcagcactgacacggaggccacggcagccgccccacgaAGAGGGAGACGGACGTCTCAATAAaatagtcgcaagAGATCGAGACCCGACGC chr10:134586354-Alternative-G;Patient-77 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Variant T ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaaga CTCTTCGCAACG CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAActcttcgcaacgAGATCGAGACCCGACGC chr10:135413635-Variant-T;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Variant T ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaaga GATCCTGGATGC CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAgatcctggatgcAGATCGAGACCCGACGC chr10:135413635-Variant-T;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Reference G ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaaga GGCTCCTATCGA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAggctcctatcgaAGATCGAGACCCGACGC chr10:135413635-Reference-G;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Variant T ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaaga CATAGGCCATAA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAcataggccataaAGATCGAGACCCGACGC chr10:135413635-Variant-T;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Reference G ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaaga AGGTTCGACTTA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAaggttcgacttaAGATCGAGACCCGACGC chr10:135413635-Reference-G;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Reference G ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaaga AGAGTTGATTCG CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAagagttgattcgAGATCGAGACCCGACGC chr10:135413635-Reference-G;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Reference G ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaaga ACCGAACATAGT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAaccgaacatagtAGATCGAGACCCGACGC chr10:135413635-Reference-G;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Variant T ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaaga AGCATATGCGAT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAagcatatgcgatAGATCGAGACCCGACGC chr10:135413635-Variant-T;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Reference G ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaaga CACAGATACCAT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcGgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAcacagataccatAGATCGAGACCCGACGC chr10:135413635-Reference-G;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Variant T ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaaga GGTGTTAACCGC CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcTgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAggtgttaaccgcAGATCGAGACCCGACGC chr10:135413635-Variant-T;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative A ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaaga GTGGCTTAACAT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAgtggcttaacatAGATCGAGACCCGACGC chr10:135413635-Alternative-A;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative A ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaaga GGCGTCTGTGAA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAggcgtctgtgaaAGATCGAGACCCGACGC chr10:135413635-Alternative-A;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative A ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaaga GGTTACTCGACC CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAggttactcgaccAGATCGAGACCCGACGC chr10:135413635-Alternative-A;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative C ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaaga GGTTGAACGATA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAggttgaacgataAGATCGAGACCCGACGC chr10:135413635-Alternative-C;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative C ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaaga ACGTATCGCGCA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAacgtatcgcgcaAGATCGAGACCCGACGC chr10:135413635-Alternative-C;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative C ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaaga AAGCACGCAATA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAaagcacgcaataAGATCGAGACCCGACGC chr10:135413635-Alternative-C;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative A ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaaga ATTCTGGAGGTT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAattctggaggttAGATCGAGACCCGACGC chr10:135413635-Alternative-A;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative A ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaaga GTCGTGGTCAGT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcAgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAgtcgtggtcagtAGATCGAGACCCGACGC chr10:135413635-Alternative-A;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative C ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaaga CGACTATTCCTA CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAcgactattcctaAGATCGAGACCCGACGC chr10:135413635-Alternative-C;Patient-49 chr10:135413635-GT DeNovo Patient-49 intergenic NA 0.000513 -0.31 0.34 0 SYCE1 31839 Alternative C ttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaaga AGTTACGGTCAT CGACGCGGTCTCTCTCTttctgaaataggagaaaaccgccctgtggctggaggtgagatatgccagcCgtgatactgctctgttactctttgctacactgagatatttggataaagaAGAGGGAGACGGACGTCTCAATAAagttacggtcatAGATCGAGACCCGACGC chr10:135413635-Alternative-C;Patient-49 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative G gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GGCGGTCAACAT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAggcggtcaacatAGATCGAGACCCGACGC chr10:17651538-Alternative-G;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative G gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GAGCAGCATGCA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgagcagcatgcaAGATCGAGACCCGACGC chr10:17651538-Alternative-G;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Variant A gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CTCTAGCTCACG CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAActctagctcacgAGATCGAGACCCGACGC chr10:17651538-Variant-A;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Variant A gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GCACGCAAGCAT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgcacgcaagcatAGATCGAGACCCGACGC chr10:17651538-Variant-A;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Variant A gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GACTAACAACCT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgactaacaacctAGATCGAGACCCGACGC chr10:17651538-Variant-A;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative G gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GCAGCGGAGTAT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgcagcggagtatAGATCGAGACCCGACGC chr10:17651538-Alternative-G;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative G gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GAGTTGCGAGCA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgagttgcgagcaAGATCGAGACCCGACGC chr10:17651538-Alternative-G;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Variant A gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGACAACGAGGT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcgacaacgaggtAGATCGAGACCCGACGC chr10:17651538-Variant-A;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative T gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGGTACAAGCGA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcggtacaagcgaAGATCGAGACCCGACGC chr10:17651538-Alternative-T;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative T gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CATCATGCTGAA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcatcatgctgaaAGATCGAGACCCGACGC chr10:17651538-Alternative-T;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Variant A gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GCAGTAACCTGA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagAtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgcagtaacctgaAGATCGAGACCCGACGC chr10:17651538-Variant-A;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative T gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGTAGCGGACTA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcgtagcggactaAGATCGAGACCCGACGC chr10:17651538-Alternative-T;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative T gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGTGCTGCAACA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcgtgctgcaacaAGATCGAGACCCGACGC chr10:17651538-Alternative-T;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative T gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGTGATACATGG CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagTtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcgtgatacatggAGATCGAGACCCGACGC chr10:17651538-Alternative-T;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Alternative G gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt ACGGCTCCAATT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagGtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAacggctccaattAGATCGAGACCCGACGC chr10:17651538-Alternative-G;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Reference C gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt ATCTGCAACGGC CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAatctgcaacggcAGATCGAGACCCGACGC chr10:17651538-Reference-C;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Reference C gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt GCGTGTTACCAC CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAgcgtgttaccacAGATCGAGACCCGACGC chr10:17651538-Reference-C;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Reference C gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CGGTGTAGTCGA CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAcggtgtagtcgaAGATCGAGACCCGACGC chr10:17651538-Reference-C;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Reference C gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt CTTAAGACTACC CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAActtaagactaccAGATCGAGACCCGACGC chr10:17651538-Reference-C;Patient-19 chr10:17651538-CA DeNovo Patient-19 intronic HACD1 0.00051 0.000198 -0.01 2.53 0.77 HACD1 7834 Reference C gatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtactt AGGTTGTGTTGT CGACGCGGTCTCTCTCTgatatatgattggcaagtgaagcacatgaaaagatactcagtatcgttagCtactagggaaaacaaaatcaaaatcccaatgagataacagaatgtacttAGAGGGAGACGGACGTCTCAATAAaggttgtgttgtAGATCGAGACCCGACGC chr10:17651538-Reference-C;Patient-19 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Variant A gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GAGTAACGCTTC CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgagtaacgcttcAGATCGAGACCCGACGC chr10:17745570-Variant-A;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Variant A gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatg CAGCATGTTCGC CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAcagcatgttcgcAGATCGAGACCCGACGC chr10:17745570-Variant-A;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Variant A gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatg ATACGTGGAGCG CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAatacgtggagcgAGATCGAGACCCGACGC chr10:17745570-Variant-A;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative C gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GTGTCGGTCGAT CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgtgtcggtcgatAGATCGAGACCCGACGC chr10:17745570-Alternative-C;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Variant A gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatg AGGACTTAACGC CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAaggacttaacgcAGATCGAGACCCGACGC chr10:17745570-Variant-A;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative C gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GACCGAGACAAG CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgaccgagacaagAGATCGAGACCCGACGC chr10:17745570-Alternative-C;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative C gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GTACGGTTCACG CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgtacggttcacgAGATCGAGACCCGACGC chr10:17745570-Alternative-C;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative C gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GCGAACGGAACT CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgcgaacggaactAGATCGAGACCCGACGC chr10:17745570-Alternative-C;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative C gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatg CAGTTGCGCTGT CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttCgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAcagttgcgctgtAGATCGAGACCCGACGC chr10:17745570-Alternative-C;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Variant A gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatg CACGCATGCGAA CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttAgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAcacgcatgcgaaAGATCGAGACCCGACGC chr10:17745570-Variant-A;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative T gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatg AGCCAACCTGAC CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAagccaacctgacAGATCGAGACCCGACGC chr10:17745570-Alternative-T;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative T gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatg CGTAGTTCTAGA CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAcgtagttctagaAGATCGAGACCCGACGC chr10:17745570-Alternative-T;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative T gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatg AGGACCTAGAAG CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAaggacctagaagAGATCGAGACCCGACGC chr10:17745570-Alternative-T;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Reference G gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GGAAGTTCCAAC CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAggaagttccaacAGATCGAGACCCGACGC chr10:17745570-Reference-G;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Reference G gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GTTGGTGGACGA CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgttggtggacgaAGATCGAGACCCGACGC chr10:17745570-Reference-G;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative T gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatg ATTACTGTGCGA CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAattactgtgcgaAGATCGAGACCCGACGC chr10:17745570-Alternative-T;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Alternative T gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatg GCCGACCGTAAT CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttTgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAgccgaccgtaatAGATCGAGACCCGACGC chr10:17745570-Alternative-T;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Reference G gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatg CGGTAACGAGAA CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAcggtaacgagaaAGATCGAGACCCGACGC chr10:17745570-Reference-G;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Reference G gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatg AACGCGACGGTT CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAaacgcgacggttAGATCGAGACCCGACGC chr10:17745570-Reference-G;Patient-21 chr10:17745570-GA Inherited Patient-21 intronic STAM 0.000128 4.95e-05 -0.26 0.49 0.42 STAM 59445 Reference G gaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatg AGCAGTGTCGAG CGACGCGGTCTCTCTCTgaaaggtttgtaattattttagtagtggtcatggtaaagtagatctgtttGgattttttaaaaaacataaatacatatatacttatatatcgtatagatgAGAGGGAGACGGACGTCTCAATAAagcagtgtcgagAGATCGAGACCCGACGC chr10:17745570-Reference-G;Patient-21 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Reference G agatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CATTACTCATCG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAcattactcatcgAGATCGAGACCCGACGC chr10:18513517-Reference-G;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative A agatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CGCTTGTAACCG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAcgcttgtaaccgAGATCGAGACCCGACGC chr10:18513517-Alternative-A;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Reference G agatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctag GACATGAGTGAT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAgacatgagtgatAGATCGAGACCCGACGC chr10:18513517-Reference-G;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative A agatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctag AGCCACGAACAT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAagccacgaacatAGATCGAGACCCGACGC chr10:18513517-Alternative-A;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative A agatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CGGCATCTTAGG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAcggcatcttaggAGATCGAGACCCGACGC chr10:18513517-Alternative-A;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative T agatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctag GCCGAACATATA CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAgccgaacatataAGATCGAGACCCGACGC chr10:18513517-Alternative-T;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Reference G agatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CTGGTGAACAAG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAActggtgaacaagAGATCGAGACCCGACGC chr10:18513517-Reference-G;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Reference G agatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctag GGTCATGGAGGT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAggtcatggaggtAGATCGAGACCCGACGC chr10:18513517-Reference-G;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Reference G agatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CGTGATACAACG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagGttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAcgtgatacaacgAGATCGAGACCCGACGC chr10:18513517-Reference-G;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative T agatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctag AGGTTATTGCAC CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAaggttattgcacAGATCGAGACCCGACGC chr10:18513517-Alternative-T;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative A agatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctag GCGAGATATCTT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAgcgagatatcttAGATCGAGACCCGACGC chr10:18513517-Alternative-A;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative T agatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctag ACGATAGCCGCT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAacgatagccgctAGATCGAGACCCGACGC chr10:18513517-Alternative-T;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative A agatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctag ACACGTTAGCCA CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagAttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAacacgttagccaAGATCGAGACCCGACGC chr10:18513517-Alternative-A;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative T agatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctag AGCTGATCGTCG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAagctgatcgtcgAGATCGAGACCCGACGC chr10:18513517-Alternative-T;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Alternative T agatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CTCGTGTTATCA CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagTttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAActcgtgttatcaAGATCGAGACCCGACGC chr10:18513517-Alternative-T;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Variant C agatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctag GGTGTTAGCGTC CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAggtgttagcgtcAGATCGAGACCCGACGC chr10:18513517-Variant-C;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Variant C agatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctag AATCGAACACCA CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAaatcgaacaccaAGATCGAGACCCGACGC chr10:18513517-Variant-C;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Variant C agatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctag AGTCGAGAAGTT CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAagtcgagaagttAGATCGAGACCCGACGC chr10:18513517-Variant-C;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Variant C agatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctag CGATAGGTATCG CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAcgataggtatcgAGATCGAGACCCGACGC chr10:18513517-Variant-C;Patient-27 chr10:18513517-GC DeNovo Patient-27 intronic CACNB2 0.000127 4.95e-05 -0.18 0.83 -2.9 CACNB2 83910 Variant C agatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctag ACTTCTGGTGAA CGACGCGGTCTCTCTCTagatgctcatattctcattttaccccaagttagttagcaacttggatcagCttaagaagctcgttctgatagaacctggatgagaacctgggccccctagAGAGGGAGACGGACGTCTCAATAAacttctggtgaaAGATCGAGACCCGACGC chr10:18513517-Variant-C;Patient-27 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Reference A tattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattc GTGGCTAATCAA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAgtggctaatcaaAGATCGAGACCCGACGC chr10:18855064-Reference-A;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Variant C tattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattc GCGAACGGAGAA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAgcgaacggagaaAGATCGAGACCCGACGC chr10:18855064-Variant-C;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Variant C tattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattc GTGTACATGGTT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAgtgtacatggttAGATCGAGACCCGACGC chr10:18855064-Variant-C;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Reference A tattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattc AGGACATGGATT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAaggacatggattAGATCGAGACCCGACGC chr10:18855064-Reference-A;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Variant C tattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattc ACGCCTTGAGCT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAacgccttgagctAGATCGAGACCCGACGC chr10:18855064-Variant-C;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Reference A tattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattc AACGAGTAACGT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAaacgagtaacgtAGATCGAGACCCGACGC chr10:18855064-Reference-A;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Variant C tattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattc CGGAACACGAAG CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAcggaacacgaagAGATCGAGACCCGACGC chr10:18855064-Variant-C;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Variant C tattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattc ATAGCTACCAAG CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccCcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAatagctaccaagAGATCGAGACCCGACGC chr10:18855064-Variant-C;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative G tattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattc AACGTTCATACG CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAaacgttcatacgAGATCGAGACCCGACGC chr10:18855064-Alternative-G;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative G tattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattc ATATAGGCCGGC CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAatataggccggcAGATCGAGACCCGACGC chr10:18855064-Alternative-G;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative G tattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattc AGCAAGCGAATC CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAagcaagcgaatcAGATCGAGACCCGACGC chr10:18855064-Alternative-G;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative G tattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattc CATGCGCATGCT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAcatgcgcatgctAGATCGAGACCCGACGC chr10:18855064-Alternative-G;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative T tattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattc ACAGATGGCATA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAacagatggcataAGATCGAGACCCGACGC chr10:18855064-Alternative-T;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative G tattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattc AATATACCGCGT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccGcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAaatataccgcgtAGATCGAGACCCGACGC chr10:18855064-Alternative-G;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative T tattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattc GTCGGATATATC CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAgtcggatatatcAGATCGAGACCCGACGC chr10:18855064-Alternative-T;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative T tattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattc AGAGTACTCGAA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAagagtactcgaaAGATCGAGACCCGACGC chr10:18855064-Alternative-T;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative T tattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattc ATTACCGCGTAA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAattaccgcgtaaAGATCGAGACCCGACGC chr10:18855064-Alternative-T;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Reference A tattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattc CGTCGAATAGTT CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAcgtcgaatagttAGATCGAGACCCGACGC chr10:18855064-Reference-A;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Alternative T tattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattc CTAACCTACTTC CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccTcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAActaacctacttcAGATCGAGACCCGACGC chr10:18855064-Alternative-T;Patient-49 chr10:18855064-AC DeNovo Patient-49 intronic NSUN6 0.000179 0.000247 0.27 6.86 0 NSUN6 85485 Reference A tattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattc CGCCTTCCAAGA CGACGCGGTCTCTCTCTtattctattccattccacaatccattccattccacatttcattccattccAcattccattccattctccattccattccattctccattccattctattcAGAGGGAGACGGACGTCTCAATAAcgccttccaagaAGATCGAGACCCGACGC chr10:18855064-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative T tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaattt CATATATCGGAG CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcatatatcggagAGATCGAGACCCGACGC chr10:19028360-Alternative-T;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative T tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaattt CGAACACGACAG CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcgaacacgacagAGATCGAGACCCGACGC chr10:19028360-Alternative-T;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Variant G tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaattt ACGTCCAATAAC CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAacgtccaataacAGATCGAGACCCGACGC chr10:19028360-Variant-G;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative T tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaattt GATTGGTATCGT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAgattggtatcgtAGATCGAGACCCGACGC chr10:19028360-Alternative-T;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Reference A tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaattt CATTGTCATTCG CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcattgtcattcgAGATCGAGACCCGACGC chr10:19028360-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Reference A tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaattt AGCTCTAAGTGT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAagctctaagtgtAGATCGAGACCCGACGC chr10:19028360-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Variant G tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaattt GAAGAGCTAACG CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAgaagagctaacgAGATCGAGACCCGACGC chr10:19028360-Variant-G;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Reference A tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaattt ATCCGCATAGAT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAatccgcatagatAGATCGAGACCCGACGC chr10:19028360-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Variant G tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaattt CGATATGGCGAT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcgatatggcgatAGATCGAGACCCGACGC chr10:19028360-Variant-G;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Variant G tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaattt CGACGACTACCA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcgacgactaccaAGATCGAGACCCGACGC chr10:19028360-Variant-G;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Reference A tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaattt AGATGGTATGCA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAagatggtatgcaAGATCGAGACCCGACGC chr10:19028360-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Variant G tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaattt GAAGATAGGCTA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcGtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAgaagataggctaAGATCGAGACCCGACGC chr10:19028360-Variant-G;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Reference A tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaattt AGACGAACTCTA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcAtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAagacgaactctaAGATCGAGACCCGACGC chr10:19028360-Reference-A;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative T tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaattt CTACACGGCACA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAActacacggcacaAGATCGAGACCCGACGC chr10:19028360-Alternative-T;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative C tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaattt AGCTACGAACTT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAagctacgaacttAGATCGAGACCCGACGC chr10:19028360-Alternative-C;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative C tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaattt CAACGTGCGGAT CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcaacgtgcggatAGATCGAGACCCGACGC chr10:19028360-Alternative-C;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative T tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaattt ACCGAATCATCA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcTtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAaccgaatcatcaAGATCGAGACCCGACGC chr10:19028360-Alternative-T;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative C tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaattt CGGACGTCTGAA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAcggacgtctgaaAGATCGAGACCCGACGC chr10:19028360-Alternative-C;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative C tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaattt ACAACACCAAGA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAacaacaccaagaAGATCGAGACCCGACGC chr10:19028360-Alternative-C;Patient-49 chr10:19028360-AG Inherited Patient-49 intergenic NA 0.000513 0.13 4.74 1.27 NSUN6 87809 Alternative C tgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaattt AACGTCTGGCGA CGACGCGGTCTCTCTCTtgttttagaactaagattgcagcttaacgtgagataaaatagacttgttcCtctaataaactttggagcccttagtatatatccagacattacctaatttAGAGGGAGACGGACGTCTCAATAAaacgtctggcgaAGATCGAGACCCGACGC chr10:19028360-Alternative-C;Patient-49 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Reference C ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GAATGCCGAATT CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAgaatgccgaattAGATCGAGACCCGACGC chr10:216320-Reference-C;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Reference C ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GAGTACCGAATC CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAgagtaccgaatcAGATCGAGACCCGACGC chr10:216320-Reference-C;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative T ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GTGGCATGATAA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAgtggcatgataaAGATCGAGACCCGACGC chr10:216320-Alternative-T;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative A ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AACGAGACATCA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAaacgagacatcaAGATCGAGACCCGACGC chr10:216320-Alternative-A;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Variant G ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AACTAGCCTAAC CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAaactagcctaacAGATCGAGACCCGACGC chr10:216320-Variant-G;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Variant G ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CTTAGACCGCAA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAActtagaccgcaaAGATCGAGACCCGACGC chr10:216320-Variant-G;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Variant G ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AGTCGCATAACT CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAagtcgcataactAGATCGAGACCCGACGC chr10:216320-Variant-G;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Reference C ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AACACCACGTGC CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAaacaccacgtgcAGATCGAGACCCGACGC chr10:216320-Reference-C;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Reference C ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AGTGCTTCAGCG CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAagtgcttcagcgAGATCGAGACCCGACGC chr10:216320-Reference-C;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative A ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt AGGCAATCCGCT CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAaggcaatccgctAGATCGAGACCCGACGC chr10:216320-Alternative-A;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative A ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CTTGCGGAGTGT CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAActtgcggagtgtAGATCGAGACCCGACGC chr10:216320-Alternative-A;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative A ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GGTGTTCGGAGA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAggtgttcggagaAGATCGAGACCCGACGC chr10:216320-Alternative-A;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative T ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GATGTGACGCAG CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAgatgtgacgcagAGATCGAGACCCGACGC chr10:216320-Alternative-T;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative T ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CGTACGCTGCAA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAcgtacgctgcaaAGATCGAGACCCGACGC chr10:216320-Alternative-T;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative T ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt GGATAACGTAGT CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAggataacgtagtAGATCGAGACCCGACGC chr10:216320-Alternative-T;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Variant G ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt ACGTGCATTCGG CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAacgtgcattcggAGATCGAGACCCGACGC chr10:216320-Variant-G;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative T ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CACGATAGGCCA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaTagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAcacgataggccaAGATCGAGACCCGACGC chr10:216320-Alternative-T;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Variant G ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CAACACAGCTGA CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaGagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAcaacacagctgaAGATCGAGACCCGACGC chr10:216320-Variant-G;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Alternative A ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CGGTGAATCGAG CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaAagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAcggtgaatcgagAGATCGAGACCCGACGC chr10:216320-Alternative-A;Patient-55 chr10:216320-CG Inherited Patient-55 intronic ZMYND11 0.000256 0.000479 -0.1 1.42 -0.6 ZMYND11 35914 Reference C ttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgt CGATCTTCGTCG CGACGCGGTCTCTCTCTttcaagaaggaataaggaaatgtaaaataaaaattttttcttcctactaaCagataattttttcgaaacaataatagtaactgtgtatttgattatgtgtAGAGGGAGACGGACGTCTCAATAAcgatcttcgtcgAGATCGAGACCCGACGC chr10:216320-Reference-C;Patient-55 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Variant G taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac AGGCTAACTCTA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAaggctaactctaAGATCGAGACCCGACGC chr10:22525968-Variant-G;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Variant G taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GAGCCTAAGTTA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAgagcctaagttaAGATCGAGACCCGACGC chr10:22525968-Variant-G;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative C taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ACTCTCTTGGAT CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAactctcttggatAGATCGAGACCCGACGC chr10:22525968-Alternative-C;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative T taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac CAGCATCTGACG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAcagcatctgacgAGATCGAGACCCGACGC chr10:22525968-Alternative-T;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative C taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GGATGATTACGA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAggatgattacgaAGATCGAGACCCGACGC chr10:22525968-Alternative-C;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Variant G taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac AAGATGTTCGAG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAaagatgttcgagAGATCGAGACCCGACGC chr10:22525968-Variant-G;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative C taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac CGTATGCTGACG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAcgtatgctgacgAGATCGAGACCCGACGC chr10:22525968-Alternative-C;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Reference A taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac CGCCTAAGAATT CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAcgcctaagaattAGATCGAGACCCGACGC chr10:22525968-Reference-A;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative T taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GCCACCATATCG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAgccaccatatcgAGATCGAGACCCGACGC chr10:22525968-Alternative-T;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Variant G taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GTTAGAGCAAGA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAgttagagcaagaAGATCGAGACCCGACGC chr10:22525968-Variant-G;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative T taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac CTTAGGCGCAGT CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAActtaggcgcagtAGATCGAGACCCGACGC chr10:22525968-Alternative-T;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Reference A taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac AAGGAACGGTGG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAaaggaacggtggAGATCGAGACCCGACGC chr10:22525968-Reference-A;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative T taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ACCTCGAGTAGA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAacctcgagtagaAGATCGAGACCCGACGC chr10:22525968-Alternative-T;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Variant G taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ACTTAGTCGCGG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaGtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAacttagtcgcggAGATCGAGACCCGACGC chr10:22525968-Variant-G;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative C taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac CTGTGCAAGAAG CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAActgtgcaagaagAGATCGAGACCCGACGC chr10:22525968-Alternative-C;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative C taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ATCGACTGATGT CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaCtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAatcgactgatgtAGATCGAGACCCGACGC chr10:22525968-Alternative-C;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Reference A taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GAGTCACTATGA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAgagtcactatgaAGATCGAGACCCGACGC chr10:22525968-Reference-A;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Reference A taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ACCATGGCTACC CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAaccatggctaccAGATCGAGACCCGACGC chr10:22525968-Reference-A;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Reference A taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac ACAGGATAGCGA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaAtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAacaggatagcgaAGATCGAGACCCGACGC chr10:22525968-Reference-A;Patient-88 chr10:22525968-AG DeNovo Patient-88 intergenic 0.000318 0.000513 -0.51 0.08 -5.22 BMI1 84170 Alternative T taaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtac GCGCTCGTCATA CGACGCGGTCTCTCTCTtaaatatttttaaacaatttgaagcgttaaaaatcttccattcgtttcaaTtgtgttaattttgacataatttcaggcttaaaagttgaaagaatagtacAGAGGGAGACGGACGTCTCAATAAgcgctcgtcataAGATCGAGACCCGACGC chr10:22525968-Alternative-T;Patient-88 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Variant G gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GATTATACTGCG CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAgattatactgcgAGATCGAGACCCGACGC chr10:23442521-Variant-G;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Variant G gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GGTGTAACGTCC CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAggtgtaacgtccAGATCGAGACCCGACGC chr10:23442521-Variant-G;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Reference A gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa ACCTCAAGTGTT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAacctcaagtgttAGATCGAGACCCGACGC chr10:23442521-Reference-A;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Variant G gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GGAACTTCGCCA CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAggaacttcgccaAGATCGAGACCCGACGC chr10:23442521-Variant-G;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Variant G gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CAACCGGTCTAC CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcaaccggtctacAGATCGAGACCCGACGC chr10:23442521-Variant-G;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Reference A gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa AAGTACGCTTCT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAaagtacgcttctAGATCGAGACCCGACGC chr10:23442521-Reference-A;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Reference A gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CGTATCTCATAC CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcgtatctcatacAGATCGAGACCCGACGC chr10:23442521-Reference-A;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Reference A gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GACCGGATAACG CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAgaccggataacgAGATCGAGACCCGACGC chr10:23442521-Reference-A;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative T gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa ACGTAGAATCAG CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAacgtagaatcagAGATCGAGACCCGACGC chr10:23442521-Alternative-T;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative C gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa AGGTACATCTGG CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAaggtacatctggAGATCGAGACCCGACGC chr10:23442521-Alternative-C;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative T gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa ACAACACGACGG CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAacaacacgacggAGATCGAGACCCGACGC chr10:23442521-Alternative-T;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Reference A gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CGCTGAGATACT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaAttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcgctgagatactAGATCGAGACCCGACGC chr10:23442521-Reference-A;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative C gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CATAACGGCTAT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcataacggctatAGATCGAGACCCGACGC chr10:23442521-Alternative-C;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative C gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CGAGCGCGAATT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcgagcgcgaattAGATCGAGACCCGACGC chr10:23442521-Alternative-C;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative C gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa ATCACGCGATAT CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAatcacgcgatatAGATCGAGACCCGACGC chr10:23442521-Alternative-C;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Variant G gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GAATATACGCGA CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaGttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAgaatatacgcgaAGATCGAGACCCGACGC chr10:23442521-Variant-G;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative C gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa CAACAGTTGCGA CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaCttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAcaacagttgcgaAGATCGAGACCCGACGC chr10:23442521-Alternative-C;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative T gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GGTGTATGGTAC CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAggtgtatggtacAGATCGAGACCCGACGC chr10:23442521-Alternative-T;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative T gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GATAACGCAATC CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAgataacgcaatcAGATCGAGACCCGACGC chr10:23442521-Alternative-T;Patient-35 chr10:23442521-AG DeNovo Patient-35 intergenic NA 0.000513 -0.04 2.09 0 PTF1A 38938 Alternative T gcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaa GTCGCACCGATA CGACGCGGTCTCTCTCTgcaaggacttcatgtctaaaacaccaaaagcaatggcaaccaaagccaaaTttgacaaatgggatctaactaaactaaagagcttctgcacgcaaaagaaAGAGGGAGACGGACGTCTCAATAAgtcgcaccgataAGATCGAGACCCGACGC chr10:23442521-Alternative-T;Patient-35 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Reference G ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttatta GTTAACGGCATT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgttaacggcattAGATCGAGACCCGACGC chr10:26694972-Reference-G;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative A ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttatta GATAATGGATCG CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgataatggatcgAGATCGAGACCCGACGC chr10:26694972-Alternative-A;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative C ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttatta AACTTACCACAG CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAaacttaccacagAGATCGAGACCCGACGC chr10:26694972-Alternative-C;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative C ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttatta CAGTCGACTCGA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAcagtcgactcgaAGATCGAGACCCGACGC chr10:26694972-Alternative-C;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative A ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttatta AGTCGTTGTCTT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAagtcgttgtcttAGATCGAGACCCGACGC chr10:26694972-Alternative-A;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative C ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttatta AGCGTGACCGAA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAagcgtgaccgaaAGATCGAGACCCGACGC chr10:26694972-Alternative-C;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative C ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttatta CGGACATTCTGG CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAcggacattctggAGATCGAGACCCGACGC chr10:26694972-Alternative-C;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Variant T ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttatta CGTATCGCGGTT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAcgtatcgcggttAGATCGAGACCCGACGC chr10:26694972-Variant-T;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Variant T ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttatta ACTCGTCCATTA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAactcgtccattaAGATCGAGACCCGACGC chr10:26694972-Variant-T;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative C ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttatta ACATGTCGTAGT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggCctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAacatgtcgtagtAGATCGAGACCCGACGC chr10:26694972-Alternative-C;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative A ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttatta GAGTAACAGGAC CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgagtaacaggacAGATCGAGACCCGACGC chr10:26694972-Alternative-A;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Variant T ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttatta GGCCGAGTTGAT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAggccgagttgatAGATCGAGACCCGACGC chr10:26694972-Variant-T;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Reference G ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttatta GTAACTTGCACA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgtaacttgcacaAGATCGAGACCCGACGC chr10:26694972-Reference-G;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative A ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttatta GTTGGCCGTAGA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgttggccgtagaAGATCGAGACCCGACGC chr10:26694972-Alternative-A;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Alternative A ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttatta CAGATAGCTGTT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggActttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAcagatagctgttAGATCGAGACCCGACGC chr10:26694972-Alternative-A;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Reference G ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttatta CGGACCTCTCAA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAcggacctctcaaAGATCGAGACCCGACGC chr10:26694972-Reference-G;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Reference G ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttatta AAGTACGGCACG CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAaagtacggcacgAGATCGAGACCCGACGC chr10:26694972-Reference-G;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Reference G ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttatta ATAAGCGCTCGG CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggGctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAataagcgctcggAGATCGAGACCCGACGC chr10:26694972-Reference-G;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Variant T ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttatta GTTCCAGCGTGA CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAAgttccagcgtgaAGATCGAGACCCGACGC chr10:26694972-Variant-T;Patient-3 chr10:26694972-GT DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.57 0.24 APBB1IP 32293 Variant T ttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttatta CTTATCGGTTCT CGACGCGGTCTCTCTCTttttcaagtctatttgtagctgtttattaccagaaggaaaaaactaccggTctttgaatagttaccttacatccagctacctcaccaaataatgttattaAGAGGGAGACGGACGTCTCAATAActtatcggttctAGATCGAGACCCGACGC chr10:26694972-Variant-T;Patient-3 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Variant A aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatac GCGTAGCAGTCA CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAgcgtagcagtcaAGATCGAGACCCGACGC chr10:27740592-Variant-A;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative C aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatac ATTGCATCGTGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAattgcatcgtgtAGATCGAGACCCGACGC chr10:27740592-Alternative-C;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Variant A aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatac CTATTGTGCCGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAActattgtgccgtAGATCGAGACCCGACGC chr10:27740592-Variant-A;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Variant A aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatac ACCGTTCTTAGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAaccgttcttagtAGATCGAGACCCGACGC chr10:27740592-Variant-A;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Variant A aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatac ACCTGTATCTGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAacctgtatctgtAGATCGAGACCCGACGC chr10:27740592-Variant-A;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative C aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatac AGAGCAATCCGC CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAagagcaatccgcAGATCGAGACCCGACGC chr10:27740592-Alternative-C;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative C aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatac CGAATCTCGATA CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgaatctcgataAGATCGAGACCCGACGC chr10:27740592-Alternative-C;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative C aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatac CGTATAGCCGGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgtatagccggtAGATCGAGACCCGACGC chr10:27740592-Alternative-C;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative C aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatac CAGTCGAATAGG CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgCttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcagtcgaataggAGATCGAGACCCGACGC chr10:27740592-Alternative-C;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Variant A aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatac CGTCTTGAGGAC CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgAttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgtcttgaggacAGATCGAGACCCGACGC chr10:27740592-Variant-A;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative T aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatac GAGATGCGTCCT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAgagatgcgtcctAGATCGAGACCCGACGC chr10:27740592-Alternative-T;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Reference G aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatac ATAGTTGCGTTC CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAatagttgcgttcAGATCGAGACCCGACGC chr10:27740592-Reference-G;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative T aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatac CGACTTAGACCA CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgacttagaccaAGATCGAGACCCGACGC chr10:27740592-Alternative-T;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative T aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatac CGCCGATATAGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgccgatatagtAGATCGAGACCCGACGC chr10:27740592-Alternative-T;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Reference G aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatac GCGATCGTCAAG CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAgcgatcgtcaagAGATCGAGACCCGACGC chr10:27740592-Reference-G;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Reference G aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatac CGTCCATTAAGA CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAcgtccattaagaAGATCGAGACCCGACGC chr10:27740592-Reference-G;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Reference G aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatac GCAATCTTAGGT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAgcaatcttaggtAGATCGAGACCCGACGC chr10:27740592-Reference-G;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Reference G aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatac GATTGTCGAGAA CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgGttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAgattgtcgagaaAGATCGAGACCCGACGC chr10:27740592-Reference-G;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative T aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatac ATACGGAGATGG CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAatacggagatggAGATCGAGACCCGACGC chr10:27740592-Alternative-T;Patient-22 chr10:27740592-GA Inherited Patient-22 intergenic 0.000257 0.000513 -0.1 1.44 -0.08 RAB18 52510 Alternative T aacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatac GGAGTAGATGTT CGACGCGGTCTCTCTCTaacaaaaatatttatagtattttattacttgctgaaacactcaacttttgTttactattgtttagaattttaattccattttgattttttaaacacatacAGAGGGAGACGGACGTCTCAATAAggagtagatgttAGATCGAGACCCGACGC chr10:27740592-Alternative-T;Patient-22 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Reference G acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GTCGTAGCGGAT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAgtcgtagcggatAGATCGAGACCCGACGC chr10:27997389-Reference-G;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Reference G acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GACATCATGGTT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAgacatcatggttAGATCGAGACCCGACGC chr10:27997389-Reference-G;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Variant A acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga ACACAACAAGCA CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAacacaacaagcaAGATCGAGACCCGACGC chr10:27997389-Variant-A;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Reference G acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga AGTGTAGCCGAA CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAagtgtagccgaaAGATCGAGACCCGACGC chr10:27997389-Reference-G;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Reference G acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GTGTTAGCTTCT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAgtgttagcttctAGATCGAGACCCGACGC chr10:27997389-Reference-G;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative T acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GTAAGCGGTAGA CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAgtaagcggtagaAGATCGAGACCCGACGC chr10:27997389-Alternative-T;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative T acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CACTAGACTTGA CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAcactagacttgaAGATCGAGACCCGACGC chr10:27997389-Alternative-T;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Variant A acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga AGTATAGCGACC CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAagtatagcgaccAGATCGAGACCCGACGC chr10:27997389-Variant-A;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Variant A acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga ACCTTCTAATCG CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAaccttctaatcgAGATCGAGACCCGACGC chr10:27997389-Variant-A;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative T acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GGCTTGTAGTCG CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAggcttgtagtcgAGATCGAGACCCGACGC chr10:27997389-Alternative-T;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative T acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CGATCGTCGTCT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAcgatcgtcgtctAGATCGAGACCCGACGC chr10:27997389-Alternative-T;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Reference G acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga AGCACGGTATGC CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcGgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAagcacggtatgcAGATCGAGACCCGACGC chr10:27997389-Reference-G;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative T acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CGACGATCATAC CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcTgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAcgacgatcatacAGATCGAGACCCGACGC chr10:27997389-Alternative-T;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative C acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga ACTACCGGACAG CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAactaccggacagAGATCGAGACCCGACGC chr10:27997389-Alternative-C;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative C acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga ACCTAGTAGTGT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAacctagtagtgtAGATCGAGACCCGACGC chr10:27997389-Alternative-C;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative C acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CAAGATAACGAC CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAcaagataacgacAGATCGAGACCCGACGC chr10:27997389-Alternative-C;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Variant A acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GTTCGACAGATT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAgttcgacagattAGATCGAGACCCGACGC chr10:27997389-Variant-A;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative C acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CATCGCGAGATT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAcatcgcgagattAGATCGAGACCCGACGC chr10:27997389-Alternative-C;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Variant A acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga GGCAAGTGGCAT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcAgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAAggcaagtggcatAGATCGAGACCCGACGC chr10:27997389-Variant-A;Patient-77 chr10:27997389-GA DeNovo Patient-77 intronic MKX NA 0.000148 NA NA NA MKX 37388 Alternative C acattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcaga CTCGTCCACGAT CGACGCGGTCTCTCTCTacattttctatttctttaatgcatcaaaaaattgactataggccgggcgcCgttgctcatggctgtaatctcagcactttgggaggccgaggtgggcagaAGAGGGAGACGGACGTCTCAATAActcgtccacgatAGATCGAGACCCGACGC chr10:27997389-Alternative-C;Patient-77 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative T gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GTGTTAGAGTCA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAgtgttagagtcaAGATCGAGACCCGACGC chr10:28567314-Alternative-T;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative T gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatac CAGTTGTGCCGT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAcagttgtgccgtAGATCGAGACCCGACGC chr10:28567314-Alternative-T;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Reference G gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AGACGATACGCG CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAagacgatacgcgAGATCGAGACCCGACGC chr10:28567314-Reference-G;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Variant A gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AGCTTGATTGCA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAagcttgattgcaAGATCGAGACCCGACGC chr10:28567314-Variant-A;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Reference G gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GTAATCACCAAC CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAgtaatcaccaacAGATCGAGACCCGACGC chr10:28567314-Reference-G;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Variant A gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatac ATACGTGACGAA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAatacgtgacgaaAGATCGAGACCCGACGC chr10:28567314-Variant-A;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Reference G gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GGCGTAACGTGT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAggcgtaacgtgtAGATCGAGACCCGACGC chr10:28567314-Reference-G;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Reference G gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatac ACGCCGTAATAT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAacgccgtaatatAGATCGAGACCCGACGC chr10:28567314-Reference-G;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative C gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatac ACAGCGTCACAG CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAacagcgtcacagAGATCGAGACCCGACGC chr10:28567314-Alternative-C;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative C gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatac CGGTAACGGCTT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAcggtaacggcttAGATCGAGACCCGACGC chr10:28567314-Alternative-C;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Reference G gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GGTAGACCTTAT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcGacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAggtagaccttatAGATCGAGACCCGACGC chr10:28567314-Reference-G;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative T gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatac CGATAGCACTGA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAcgatagcactgaAGATCGAGACCCGACGC chr10:28567314-Alternative-T;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Variant A gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AATACGTGACGA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAaatacgtgacgaAGATCGAGACCCGACGC chr10:28567314-Variant-A;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative C gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AACTAATCTGCG CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAaactaatctgcgAGATCGAGACCCGACGC chr10:28567314-Alternative-C;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative T gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatac CGTGGACACCAT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAcgtggacaccatAGATCGAGACCCGACGC chr10:28567314-Alternative-T;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative T gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GGAATTAAGCGT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcTacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAggaattaagcgtAGATCGAGACCCGACGC chr10:28567314-Alternative-T;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative C gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AACCGGTTGGAT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAaaccggttggatAGATCGAGACCCGACGC chr10:28567314-Alternative-C;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Variant A gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatac GCGAGCAACCTT CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAgcgagcaaccttAGATCGAGACCCGACGC chr10:28567314-Variant-A;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Alternative C gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatac AACCGGTTGACG CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcCacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAAaaccggttgacgAGATCGAGACCCGACGC chr10:28567314-Alternative-C;Patient-69 chr10:28567314-GA DeNovo Patient-69 intronic MPP7 0.000191 0.00016 -0.57 0.05 -1.78 MPP7 3752 Variant A gacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatac CTATGCCATCTA CGACGCGGTCTCTCTCTgacagcctgctaaattgcatatggaagtttccaccaaacatcagactttcAacttactggtggtatccatttttaaattcctaatcaatttaaggcatacAGAGGGAGACGGACGTCTCAATAActatgccatctaAGATCGAGACCCGACGC chr10:28567314-Variant-A;Patient-69 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative G actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GTAACTCGCACG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgtaactcgcacgAGATCGAGACCCGACGC chr10:29024270-Alternative-G;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative G actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg AGAATGTGGCCG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAagaatgtggccgAGATCGAGACCCGACGC chr10:29024270-Alternative-G;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Variant T actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GATCGTGAAGAT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgatcgtgaagatAGATCGAGACCCGACGC chr10:29024270-Variant-T;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Reference A actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CATGTCTCAACT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcatgtctcaactAGATCGAGACCCGACGC chr10:29024270-Reference-A;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative G actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GTCGAGTGGTTC CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgtcgagtggttcAGATCGAGACCCGACGC chr10:29024270-Alternative-G;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Reference A actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CAGGTGTAGTGG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcaggtgtagtggAGATCGAGACCCGACGC chr10:29024270-Reference-A;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative G actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CGAGAGATGCGT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcgagagatgcgtAGATCGAGACCCGACGC chr10:29024270-Alternative-G;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative G actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CGTACTCCTATA CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccGggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcgtactcctataAGATCGAGACCCGACGC chr10:29024270-Alternative-G;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative C actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GATGAGATGCGG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgatgagatgcggAGATCGAGACCCGACGC chr10:29024270-Alternative-C;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Reference A actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg ACTGAAGACGCA CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAactgaagacgcaAGATCGAGACCCGACGC chr10:29024270-Reference-A;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Reference A actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CGCTGGTAGTCT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcgctggtagtctAGATCGAGACCCGACGC chr10:29024270-Reference-A;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Variant T actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CGCCAGTAACGT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcgccagtaacgtAGATCGAGACCCGACGC chr10:29024270-Variant-T;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Variant T actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CAGCAGTCGTGT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAcagcagtcgtgtAGATCGAGACCCGACGC chr10:29024270-Variant-T;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Variant T actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GAGTAGCCGGTT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgagtagccggttAGATCGAGACCCGACGC chr10:29024270-Variant-T;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative C actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GATAGCGGACGT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgatagcggacgtAGATCGAGACCCGACGC chr10:29024270-Alternative-C;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative C actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg ACGCGCTCTATC CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAacgcgctctatcAGATCGAGACCCGACGC chr10:29024270-Alternative-C;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Variant T actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GTTACACGGTAA CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccTggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgttacacggtaaAGATCGAGACCCGACGC chr10:29024270-Variant-T;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Reference A actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GACCGCGTACAT CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccAggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgaccgcgtacatAGATCGAGACCCGACGC chr10:29024270-Reference-A;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative C actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg GTATTAGTACGG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAAgtattagtacggAGATCGAGACCCGACGC chr10:29024270-Alternative-C;Patient-89 chr10:29024270-AT Inherited Patient-89 intergenic NA 0.000513 0.31 7.39 0.1 BAMBI 57845 Alternative C actttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattgg CTTACGCGTTCG CGACGCGGTCTCTCTCTactttgctgacatttcagaatagagaaatgccatgtcatagcaaaagtccCggaagaaccagatcagagatagaggggtgaaacaaaaagtggatattggAGAGGGAGACGGACGTCTCAATAActtacgcgttcgAGATCGAGACCCGACGC chr10:29024270-Alternative-C;Patient-89 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Variant T aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta ACCTCCTCTTCG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAacctcctcttcgAGATCGAGACCCGACGC chr10:29586828-Variant-T;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative A aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AATAACGAGCCA CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAaataacgagccaAGATCGAGACCCGACGC chr10:29586828-Alternative-A;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative A aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GGTGCGAGTTCT CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAggtgcgagttctAGATCGAGACCCGACGC chr10:29586828-Alternative-A;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative A aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AGATGTACGAAG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAagatgtacgaagAGATCGAGACCCGACGC chr10:29586828-Alternative-A;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative A aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GTGACGTCTACG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgtgacgtctacgAGATCGAGACCCGACGC chr10:29586828-Alternative-A;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Variant T aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AGCTCAATAGCG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAagctcaatagcgAGATCGAGACCCGACGC chr10:29586828-Variant-T;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Reference C aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GCAACATAAGCA CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgcaacataagcaAGATCGAGACCCGACGC chr10:29586828-Reference-C;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Reference C aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta CACTTCGCTCGA CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAcacttcgctcgaAGATCGAGACCCGACGC chr10:29586828-Reference-C;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Variant T aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta ACGTCACCACAG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAacgtcaccacagAGATCGAGACCCGACGC chr10:29586828-Variant-T;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Variant T aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GACCGGACTAAC CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgaccggactaacAGATCGAGACCCGACGC chr10:29586828-Variant-T;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative A aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta ATCTGCGTTGAT CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaAcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAatctgcgttgatAGATCGAGACCCGACGC chr10:29586828-Alternative-A;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Reference C aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GTTCGTTCGGCA CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgttcgttcggcaAGATCGAGACCCGACGC chr10:29586828-Reference-C;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Variant T aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AGATAGATGACC CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaTcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAagatagatgaccAGATCGAGACCCGACGC chr10:29586828-Variant-T;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Reference C aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GTTGATGATGAG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgttgatgatgagAGATCGAGACCCGACGC chr10:29586828-Reference-C;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Reference C aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AACAGCGCTGAC CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaCcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAaacagcgctgacAGATCGAGACCCGACGC chr10:29586828-Reference-C;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative G aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta GTACAGATCAAG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAgtacagatcaagAGATCGAGACCCGACGC chr10:29586828-Alternative-G;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative G aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta CACGATGCGTCT CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAcacgatgcgtctAGATCGAGACCCGACGC chr10:29586828-Alternative-G;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative G aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta ACCTCGATACTT CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAacctcgatacttAGATCGAGACCCGACGC chr10:29586828-Alternative-G;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative G aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta ACTCCGTTAACG CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAactccgttaacgAGATCGAGACCCGACGC chr10:29586828-Alternative-G;Patient-57 chr10:29586828-CT DeNovo Patient-57 intronic LYZL1 NA 4.95e-05 0.63 10.49 0.13 LYZL1 8837 Alternative G aaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattctta AGCGTACACTTA CGACGCGGTCTCTCTCTaaaagttccatacaaaaaatcaagcatcagagtgacatcagacttctcaaGcacaacactggaagctagaagaaaatggaaaaagtcttcaaaattcttaAGAGGGAGACGGACGTCTCAATAAagcgtacacttaAGATCGAGACCCGACGC chr10:29586828-Alternative-G;Patient-57 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative A aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa AGGTATCTCGCG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAaggtatctcgcgAGATCGAGACCCGACGC chr10:30002389-Alternative-A;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative A aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa ACTGAGTGTCGG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAactgagtgtcggAGATCGAGACCCGACGC chr10:30002389-Alternative-A;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative A aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GATGAATGCGAT CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgatgaatgcgatAGATCGAGACCCGACGC chr10:30002389-Alternative-A;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Reference C aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa AGCGTCACTAAG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAagcgtcactaagAGATCGAGACCCGACGC chr10:30002389-Reference-C;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Reference C aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa CGATAAGAGTAC CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAcgataagagtacAGATCGAGACCCGACGC chr10:30002389-Reference-C;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Reference C aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GACAACGCTAGG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgacaacgctaggAGATCGAGACCCGACGC chr10:30002389-Reference-C;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Reference C aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GTGTTCTTGTCA CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgtgttcttgtcaAGATCGAGACCCGACGC chr10:30002389-Reference-C;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Variant T aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa CTAACGTGTCGG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAActaacgtgtcggAGATCGAGACCCGACGC chr10:30002389-Variant-T;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative A aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa CTACGACTATCG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAActacgactatcgAGATCGAGACCCGACGC chr10:30002389-Alternative-A;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Variant T aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa CACGGCATATCA CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAcacggcatatcaAGATCGAGACCCGACGC chr10:30002389-Variant-T;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Variant T aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa AATGTCGAGTCT CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAaatgtcgagtctAGATCGAGACCCGACGC chr10:30002389-Variant-T;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Variant T aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GACGTTGATACT CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgacgttgatactAGATCGAGACCCGACGC chr10:30002389-Variant-T;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Reference C aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GCCACGTAAGTC CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcCtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgccacgtaagtcAGATCGAGACCCGACGC chr10:30002389-Reference-C;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative A aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa ACCTTGGCAAGA CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcAtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAaccttggcaagaAGATCGAGACCCGACGC chr10:30002389-Alternative-A;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Variant T aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa AATAACATGCGG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcTtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAaataacatgcggAGATCGAGACCCGACGC chr10:30002389-Variant-T;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative G aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GTACCGCAGTAA CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgtaccgcagtaaAGATCGAGACCCGACGC chr10:30002389-Alternative-G;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative G aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa AGGCCAATCTGG CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAaggccaatctggAGATCGAGACCCGACGC chr10:30002389-Alternative-G;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative G aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa CGTCCAGCGTAA CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAcgtccagcgtaaAGATCGAGACCCGACGC chr10:30002389-Alternative-G;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative G aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GGACATAGATGT CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAggacatagatgtAGATCGAGACCCGACGC chr10:30002389-Alternative-G;Patient-25 chr10:30002389-CT Inherited Patient-25 intronic SVIL 3.2e-05 0.00016 -0.19 0.76 -1.5 SVIL 22340 Alternative G aaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataa GCCGCAGATTGT CGACGCGGTCTCTCTCTaaaatgtgttgcttctggaacaaagctattgcttttcatttacagcattcGtccacgatctgattttttcagccatgttcatgaatcactttgaaaataaAGAGGGAGACGGACGTCTCAATAAgccgcagattgtAGATCGAGACCCGACGC chr10:30002389-Alternative-G;Patient-25 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Variant G ttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CGAAGCATACGA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcgaagcatacgaAGATCGAGACCCGACGC chr10:31511163-Variant-G;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative T ttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CTTGCGGAACAG CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAActtgcggaacagAGATCGAGACCCGACGC chr10:31511163-Alternative-T;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Variant G ttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GCGACGGTTCTA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgcgacggttctaAGATCGAGACCCGACGC chr10:31511163-Variant-G;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Variant G ttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GACGCTCTGTCA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgacgctctgtcaAGATCGAGACCCGACGC chr10:31511163-Variant-G;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative C ttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GTGAACGGAAGG CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgtgaacggaaggAGATCGAGACCCGACGC chr10:31511163-Alternative-C;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative C ttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactct ATCTTAGACCGA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAatcttagaccgaAGATCGAGACCCGACGC chr10:31511163-Alternative-C;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Variant G ttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactct AACAGGTATGAG CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAaacaggtatgagAGATCGAGACCCGACGC chr10:31511163-Variant-G;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Variant G ttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactct ACTCGCTATCCA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacGtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAactcgctatccaAGATCGAGACCCGACGC chr10:31511163-Variant-G;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative C ttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CAATAATCGACC CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcaataatcgaccAGATCGAGACCCGACGC chr10:31511163-Alternative-C;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative C ttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GTTCATCGACGG CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgttcatcgacggAGATCGAGACCCGACGC chr10:31511163-Alternative-C;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Reference A ttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GTTACTGGTTCT CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgttactggttctAGATCGAGACCCGACGC chr10:31511163-Reference-A;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative C ttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactct ATCGTTGGCGAC CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacCtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAatcgttggcgacAGATCGAGACCCGACGC chr10:31511163-Alternative-C;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative T ttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CAACCGGACATT CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcaaccggacattAGATCGAGACCCGACGC chr10:31511163-Alternative-T;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Reference A ttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CATCACATCGGC CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcatcacatcggcAGATCGAGACCCGACGC chr10:31511163-Reference-A;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Reference A ttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactct AACGTATAAGCG CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAaacgtataagcgAGATCGAGACCCGACGC chr10:31511163-Reference-A;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative T ttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CTACAACGGCGT CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAActacaacggcgtAGATCGAGACCCGACGC chr10:31511163-Alternative-T;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Reference A ttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactct AATACGGAGTAC CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAaatacggagtacAGATCGAGACCCGACGC chr10:31511163-Reference-A;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative T ttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CGAAGTAATGCA CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcgaagtaatgcaAGATCGAGACCCGACGC chr10:31511163-Alternative-T;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Reference A ttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactct GATCGAGCGGTT CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacAtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAgatcgagcggttAGATCGAGACCCGACGC chr10:31511163-Reference-A;Patient-65 chr10:31511163-AG Inherited Patient-65 intergenic 0.000127 0.00154 0.26 6.69 2.64 ZEB1 96937 Alternative T ttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactct CAATGAGAACGT CGACGCGGTCTCTCTCTttataacattgacttgatttcacatccaggaagttcaaacccttaataacTtacctcactgcattcttgctgtggtttaatgattacttttttcaactctAGAGGGAGACGGACGTCTCAATAAcaatgagaacgtAGATCGAGACCCGACGC chr10:31511163-Alternative-T;Patient-65 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative C caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc AAGCAGCGGCTA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAaagcagcggctaAGATCGAGACCCGACGC chr10:31594217-Alternative-C;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Reference A caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CATGCGCATGAG CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAcatgcgcatgagAGATCGAGACCCGACGC chr10:31594217-Reference-A;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative C caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GCGAATAGGTCG CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAgcgaataggtcgAGATCGAGACCCGACGC chr10:31594217-Alternative-C;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Reference A caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc ATTACTGCCGTT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAattactgccgttAGATCGAGACCCGACGC chr10:31594217-Reference-A;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative C caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GCGTGAACGAGT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAgcgtgaacgagtAGATCGAGACCCGACGC chr10:31594217-Alternative-C;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Reference A caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CTCGCAAGCAGT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAActcgcaagcagtAGATCGAGACCCGACGC chr10:31594217-Reference-A;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative T caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc AGCTTGCAAGTT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAagcttgcaagttAGATCGAGACCCGACGC chr10:31594217-Alternative-T;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative C caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CAGCATTCTAGA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAcagcattctagaAGATCGAGACCCGACGC chr10:31594217-Alternative-C;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Reference A caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CGGCATAGATAA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAcggcatagataaAGATCGAGACCCGACGC chr10:31594217-Reference-A;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative C caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GGTCGGAGGTTA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaCgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAggtcggaggttaAGATCGAGACCCGACGC chr10:31594217-Alternative-C;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Reference A caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GGAGTTCTAGAT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaAgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAggagttctagatAGATCGAGACCCGACGC chr10:31594217-Reference-A;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative T caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CTGAATGACACT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAActgaatgacactAGATCGAGACCCGACGC chr10:31594217-Alternative-T;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Variant G caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc AACCGGTACCGT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAaaccggtaccgtAGATCGAGACCCGACGC chr10:31594217-Variant-G;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Variant G caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc ATTGGCCGGACA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAattggccggacaAGATCGAGACCCGACGC chr10:31594217-Variant-G;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Variant G caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GACCACATCAGG CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAgaccacatcaggAGATCGAGACCCGACGC chr10:31594217-Variant-G;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Variant G caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GATGCGCGATGT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAgatgcgcgatgtAGATCGAGACCCGACGC chr10:31594217-Variant-G;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative T caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc ATCGTCGCCAAT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAatcgtcgccaatAGATCGAGACCCGACGC chr10:31594217-Alternative-T;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Variant G caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc CGCACTTACCGA CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaGgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAcgcacttaccgaAGATCGAGACCCGACGC chr10:31594217-Variant-G;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative T caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GGCAATCGCGTT CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAggcaatcgcgttAGATCGAGACCCGACGC chr10:31594217-Alternative-T;Patient-82 chr10:31594217-AG DeNovo Patient-82 intergenic NA 0.000513 0.64 10.6 2.63 ZEB1 13883 Alternative T caatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattc GTGAGGTGTCAC CGACGCGGTCTCTCTCTcaatcaatagcatgatatcaaatgtgcagattcaggaaataagctactaaTgagaaaatttacttatttaatgtaattcaatatatagaaaataaaattcAGAGGGAGACGGACGTCTCAATAAgtgaggtgtcacAGATCGAGACCCGACGC chr10:31594217-Alternative-T;Patient-82 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Variant G gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg AGATATACGGAC CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAagatatacggacAGATCGAGACCCGACGC chr10:31708015-Variant-G;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Variant G gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg CGAGATGAAGAA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAcgagatgaagaaAGATCGAGACCCGACGC chr10:31708015-Variant-G;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Variant G gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg AGACCGCTCCAA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAagaccgctccaaAGATCGAGACCCGACGC chr10:31708015-Variant-G;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Variant G gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg AGCGCGTCCTAT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAagcgcgtcctatAGATCGAGACCCGACGC chr10:31708015-Variant-G;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative C gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GTAACGGCGTGA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgtaacggcgtgaAGATCGAGACCCGACGC chr10:31708015-Alternative-C;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative T gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg ATCGATTGTCCT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAatcgattgtcctAGATCGAGACCCGACGC chr10:31708015-Alternative-T;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Variant G gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg ACGAGGATTAGT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtGtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAacgaggattagtAGATCGAGACCCGACGC chr10:31708015-Variant-G;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Reference A gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg ACCTGACTACGC CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAacctgactacgcAGATCGAGACCCGACGC chr10:31708015-Reference-A;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative T gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GATACCTTCTGT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgataccttctgtAGATCGAGACCCGACGC chr10:31708015-Alternative-T;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Reference A gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg CTAAGTTGAGCT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAActaagttgagctAGATCGAGACCCGACGC chr10:31708015-Reference-A;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative T gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GATATGAGCTGA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgatatgagctgaAGATCGAGACCCGACGC chr10:31708015-Alternative-T;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative C gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GCAGTTGACCAC CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgcagttgaccacAGATCGAGACCCGACGC chr10:31708015-Alternative-C;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative C gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg CAATGCTCGTGG CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAcaatgctcgtggAGATCGAGACCCGACGC chr10:31708015-Alternative-C;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative T gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg AATATACGGTGG CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAaatatacggtggAGATCGAGACCCGACGC chr10:31708015-Alternative-T;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Reference A gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg CGTGTGTGCACA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAcgtgtgtgcacaAGATCGAGACCCGACGC chr10:31708015-Reference-A;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Reference A gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GGTTAACGTTCA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAggttaacgttcaAGATCGAGACCCGACGC chr10:31708015-Reference-A;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative C gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GTATAGTACGAG CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgtatagtacgagAGATCGAGACCCGACGC chr10:31708015-Alternative-C;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Reference A gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg ACTGAGTAGAGT CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtAtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAactgagtagagtAGATCGAGACCCGACGC chr10:31708015-Reference-A;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative C gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg AGAATCTCGGAA CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtCtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAagaatctcggaaAGATCGAGACCCGACGC chr10:31708015-Alternative-C;Patient-33 chr10:31708015-AG DeNovo Patient-33 intronic ZEB1 NA 4.95e-05 NA NA NA ZEB1 99913 Alternative T gtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtg GTTAGAATCGAG CGACGCGGTCTCTCTCTgtttctctgagcaaaatagacacaatccctgacctcatggagtttccagtTtaatgccagagatggatattagaaagtaatcctgtaactataagctgtgAGAGGGAGACGGACGTCTCAATAAgttagaatcgagAGATCGAGACCCGACGC chr10:31708015-Alternative-T;Patient-33 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Variant A accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccac GACGACATGTGG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAgacgacatgtggAGATCGAGACCCGACGC chr10:3175298-Variant-A;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Variant A accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AGCCGGAGTTGT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAagccggagttgtAGATCGAGACCCGACGC chr10:3175298-Variant-A;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Variant A accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AGTGGCTAGTGG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAagtggctagtggAGATCGAGACCCGACGC chr10:3175298-Variant-A;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Variant A accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AAGGTGGAACTT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAaaggtggaacttAGATCGAGACCCGACGC chr10:3175298-Variant-A;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Reference G accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AGCTTCCGACCT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAagcttccgacctAGATCGAGACCCGACGC chr10:3175298-Reference-G;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Variant A accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccac CGAGAGCGATCA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggAgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAcgagagcgatcaAGATCGAGACCCGACGC chr10:3175298-Variant-A;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative T accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccac GTATAACTCGCA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAgtataactcgcaAGATCGAGACCCGACGC chr10:3175298-Alternative-T;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative T accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccac ATCATGCAGCAT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAatcatgcagcatAGATCGAGACCCGACGC chr10:3175298-Alternative-T;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative T accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccac CGTGGAACATAA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAcgtggaacataaAGATCGAGACCCGACGC chr10:3175298-Alternative-T;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Reference G accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccac ACAACTGCATCA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAacaactgcatcaAGATCGAGACCCGACGC chr10:3175298-Reference-G;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative T accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccac GATGATTAGTGG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAgatgattagtggAGATCGAGACCCGACGC chr10:3175298-Alternative-T;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Reference G accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AGTTACTGGCAT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAagttactggcatAGATCGAGACCCGACGC chr10:3175298-Reference-G;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative T accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccac GCGTAAGTTCAT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggTgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAgcgtaagttcatAGATCGAGACCCGACGC chr10:3175298-Alternative-T;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Reference G accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccac CAGTTCGCTTCG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAcagttcgcttcgAGATCGAGACCCGACGC chr10:3175298-Reference-G;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Reference G accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccac CATCAAGGCTTA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggGgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAcatcaaggcttaAGATCGAGACCCGACGC chr10:3175298-Reference-G;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative C accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccac ACTAGAACGTGA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAactagaacgtgaAGATCGAGACCCGACGC chr10:3175298-Alternative-C;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative C accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AAGCATGCGCGA CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAaagcatgcgcgaAGATCGAGACCCGACGC chr10:3175298-Alternative-C;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative C accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccac ACGCAGAAGTGT CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAacgcagaagtgtAGATCGAGACCCGACGC chr10:3175298-Alternative-C;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative C accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccac AACTCTCGGCAG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAaactctcggcagAGATCGAGACCCGACGC chr10:3175298-Alternative-C;Patient-59 chr10:3175298-GA DeNovo Patient-59 intronic PFKP 3.2e-05 9.9e-05 -0.03 2.13 -2.63 PITRM1 39734 Alternative C accgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccac ACATATAGGTGG CGACGCGGTCTCTCTCTaccgtgaactggagggactggtgttgatgtagaatcaccatagggttgggCgatgcgggagtccagcctcccagggccatctccccaagcagggagccacAGAGGGAGACGGACGTCTCAATAAacatataggtggAGATCGAGACCCGACGC chr10:3175298-Alternative-C;Patient-59 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative T taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CGTCTATACCAT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcgtctataccatAGATCGAGACCCGACGC chr10:32298916-Alternative-T;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Reference G taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CAATGCGGATGA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcaatgcggatgaAGATCGAGACCCGACGC chr10:32298916-Reference-G;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative T taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatct ACCGGAGATCGT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAaccggagatcgtAGATCGAGACCCGACGC chr10:32298916-Alternative-T;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Reference G taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GTACGGATGTGG CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAgtacggatgtggAGATCGAGACCCGACGC chr10:32298916-Reference-G;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative T taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CGCTCGACTGAT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcgctcgactgatAGATCGAGACCCGACGC chr10:32298916-Alternative-T;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Reference G taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GCGAATCGCTGA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAgcgaatcgctgaAGATCGAGACCCGACGC chr10:32298916-Reference-G;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Reference G taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GATGCGGTCTGA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAgatgcggtctgaAGATCGAGACCCGACGC chr10:32298916-Reference-G;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Variant A taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CATCTCCGCATA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcatctccgcataAGATCGAGACCCGACGC chr10:32298916-Variant-A;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative T taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CGTGTATGTGAT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcgtgtatgtgatAGATCGAGACCCGACGC chr10:32298916-Alternative-T;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative T taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatct ATCGTCTGGCGT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaTtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAatcgtctggcgtAGATCGAGACCCGACGC chr10:32298916-Alternative-T;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Variant A taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GAGATAAGGCTT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAgagataaggcttAGATCGAGACCCGACGC chr10:32298916-Variant-A;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Variant A taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CGGTAGACCAAC CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcggtagaccaacAGATCGAGACCCGACGC chr10:32298916-Variant-A;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Reference G taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CTTACTGGACGG CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaGtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAActtactggacggAGATCGAGACCCGACGC chr10:32298916-Reference-G;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Variant A taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CGAAGTAAGTCG CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcgaagtaagtcgAGATCGAGACCCGACGC chr10:32298916-Variant-A;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Variant A taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CTGTCGCATAAG CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaAtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAActgtcgcataagAGATCGAGACCCGACGC chr10:32298916-Variant-A;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative C taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GGTGCCGATAGA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAggtgccgatagaAGATCGAGACCCGACGC chr10:32298916-Alternative-C;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative C taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CTACCGACGCAA CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAActaccgacgcaaAGATCGAGACCCGACGC chr10:32298916-Alternative-C;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative C taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CTGAGTACCTGG CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAActgagtacctggAGATCGAGACCCGACGC chr10:32298916-Alternative-C;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative C taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatct GATGCAAGTAGT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAgatgcaagtagtAGATCGAGACCCGACGC chr10:32298916-Alternative-C;Patient-25 chr10:32298916-GA DeNovo Patient-25 3 prime UTR KIF5B NA 0.000159744 1.34 15.12 5.49 KIF5B 46454 Alternative C taaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatct CAGGTGAATTGT CGACGCGGTCTCTCTCTtaaaaaaataaataaataaatttatattttaaatcaaaattattacaaaaCtggaaattacaatagttacggaaatagaaaaataagccaattatgatctAGAGGGAGACGGACGTCTCAATAAcaggtgaattgtAGATCGAGACCCGACGC chr10:32298916-Alternative-C;Patient-25 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Reference T aagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggt CGTAGACCATAT CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAcgtagaccatatAGATCGAGACCCGACGC chr10:32335719-Reference-T;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Reference T aagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggt CTCACGGCTGAA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAActcacggctgaaAGATCGAGACCCGACGC chr10:32335719-Reference-T;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Reference T aagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggt AACGTAGGCGAC CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAaacgtaggcgacAGATCGAGACCCGACGC chr10:32335719-Reference-T;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative A aagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggt GCGTGTTCGCTT CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAgcgtgttcgcttAGATCGAGACCCGACGC chr10:32335719-Alternative-A;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Reference T aagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ACGATAGGTCTT CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAacgataggtcttAGATCGAGACCCGACGC chr10:32335719-Reference-T;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Reference T aagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ACCTCGGTTCCA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcTtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAacctcggttccaAGATCGAGACCCGACGC chr10:32335719-Reference-T;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Variant G aagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggt AGTTCTGACTTC CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAagttctgacttcAGATCGAGACCCGACGC chr10:32335719-Variant-G;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative A aagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ATATGACTCCGA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAatatgactccgaAGATCGAGACCCGACGC chr10:32335719-Alternative-A;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative A aagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ACAGACTACCGG CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAacagactaccggAGATCGAGACCCGACGC chr10:32335719-Alternative-A;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative A aagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggt AACCGCTTGCGA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAaaccgcttgcgaAGATCGAGACCCGACGC chr10:32335719-Alternative-A;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative A aagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggt CAGTACGTGCTT CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcAtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAcagtacgtgcttAGATCGAGACCCGACGC chr10:32335719-Alternative-A;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative C aagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggt GGATCCAACGTC CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAggatccaacgtcAGATCGAGACCCGACGC chr10:32335719-Alternative-C;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative C aagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggt AGCGGCTAGCTA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAagcggctagctaAGATCGAGACCCGACGC chr10:32335719-Alternative-C;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative C aagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggt CAAGGAATTCCT CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAcaaggaattcctAGATCGAGACCCGACGC chr10:32335719-Alternative-C;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative C aagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggt AAGAACCGCTTC CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAaagaaccgcttcAGATCGAGACCCGACGC chr10:32335719-Alternative-C;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Alternative C aagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggt GAGTCACTTCGG CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcCtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAgagtcacttcggAGATCGAGACCCGACGC chr10:32335719-Alternative-C;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Variant G aagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggt GCGATAGGTAAG CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAgcgataggtaagAGATCGAGACCCGACGC chr10:32335719-Variant-G;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Variant G aagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ATCGGAGAGCGA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAatcggagagcgaAGATCGAGACCCGACGC chr10:32335719-Variant-G;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Variant G aagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggt ACGCTGGTATTA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAacgctggtattaAGATCGAGACCCGACGC chr10:32335719-Variant-G;Patient-37 chr10:32335719-TG DeNovo Patient-37 intronic KIF5B 3.2e-05 4.95e-05 0.56 9.89 -0.65 KIF5B 9651 Variant G aagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggt GCGCTGTACTGA CGACGCGGTCTCTCTCTaagtcaactccatgacaacacctttaccttttcattactaactgcattgcGtccataatctcaatttcaagtagagatactaatcaacttacgatggggtAGAGGGAGACGGACGTCTCAATAAgcgctgtactgaAGATCGAGACCCGACGC chr10:32335719-Variant-G;Patient-37 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative T gatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggta AAGATGTTCGGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAaagatgttcggtAGATCGAGACCCGACGC chr10:32364944-Alternative-T;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative C gatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggta CGGTAGCTTCGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAcggtagcttcgtAGATCGAGACCCGACGC chr10:32364944-Alternative-C;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative T gatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggta AATGAGCTAGGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAaatgagctaggtAGATCGAGACCCGACGC chr10:32364944-Alternative-T;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Variant G gatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggta GATTGAGACACT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgattgagacactAGATCGAGACCCGACGC chr10:32364944-Variant-G;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative T gatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggta CGTCGCTACATC CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAcgtcgctacatcAGATCGAGACCCGACGC chr10:32364944-Alternative-T;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative C gatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggta AGCTGGACTCGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAagctggactcgtAGATCGAGACCCGACGC chr10:32364944-Alternative-C;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative C gatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggta AACGAAGTGAGA CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAaacgaagtgagaAGATCGAGACCCGACGC chr10:32364944-Alternative-C;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative C gatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggta ATTGGTTACCGG CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAattggttaccggAGATCGAGACCCGACGC chr10:32364944-Alternative-C;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative C gatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggta AGATACGTCCGG CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacCcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAagatacgtccggAGATCGAGACCCGACGC chr10:32364944-Alternative-C;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative T gatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggta GGCGAATGTAAT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAggcgaatgtaatAGATCGAGACCCGACGC chr10:32364944-Alternative-T;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Variant G gatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggta GATAGTGGCTAT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgatagtggctatAGATCGAGACCCGACGC chr10:32364944-Variant-G;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Reference A gatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggta ACACACGTAGCT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAacacacgtagctAGATCGAGACCCGACGC chr10:32364944-Reference-A;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Variant G gatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggta GCGATCGAGAGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgcgatcgagagtAGATCGAGACCCGACGC chr10:32364944-Variant-G;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Variant G gatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggta GATCGTGTTCGG CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgatcgtgttcggAGATCGAGACCCGACGC chr10:32364944-Variant-G;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Variant G gatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggta CTCAACCACAAT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacGcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAActcaaccacaatAGATCGAGACCCGACGC chr10:32364944-Variant-G;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Reference A gatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggta GTCGTCGTTCGT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgtcgtcgttcgtAGATCGAGACCCGACGC chr10:32364944-Reference-A;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Reference A gatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggta ATAAGCATCGAG CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAataagcatcgagAGATCGAGACCCGACGC chr10:32364944-Reference-A;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Reference A gatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggta GTTGTGCTGACG CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAgttgtgctgacgAGATCGAGACCCGACGC chr10:32364944-Reference-A;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Reference A gatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggta CAGTTCGTGCGA CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacActtttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAcagttcgtgcgaAGATCGAGACCCGACGC chr10:32364944-Reference-A;Patient-55 chr10:32364944-AG DeNovo Patient-55 intergenic NA 0.000513 0.06 3.59 0.16 KIF5B 19572 Alternative T gatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggta AACGACCGAATT CGACGCGGTCTCTCTCTgatccaccttctttttggtgcatttctaattaaattacagacatcagtacTcttttccctaataacattatacttttaaaattattgtaatgtcatggtaAGAGGGAGACGGACGTCTCAATAAaacgaccgaattAGATCGAGACCCGACGC chr10:32364944-Alternative-T;Patient-55 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Variant T ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc AGTAGCCTACGC CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAagtagcctacgcAGATCGAGACCCGACGC chr10:32627741-Variant-T;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative G ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc AGGAGACAGTTA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAaggagacagttaAGATCGAGACCCGACGC chr10:32627741-Alternative-G;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Variant T ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GTAAGGTTCAGA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgtaaggttcagaAGATCGAGACCCGACGC chr10:32627741-Variant-T;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Variant T ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GCGTATCTGACG CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgcgtatctgacgAGATCGAGACCCGACGC chr10:32627741-Variant-T;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative G ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GATCGGCGAGAA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgatcggcgagaaAGATCGAGACCCGACGC chr10:32627741-Alternative-G;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative G ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc CGCCAATCTGCT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAcgccaatctgctAGATCGAGACCCGACGC chr10:32627741-Alternative-G;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Variant T ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc CGATGGCTTAAG CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAcgatggcttaagAGATCGAGACCCGACGC chr10:32627741-Variant-T;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative G ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc ACGATACGTTGT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAacgatacgttgtAGATCGAGACCCGACGC chr10:32627741-Alternative-G;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative A ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GTAACATGCTGT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgtaacatgctgtAGATCGAGACCCGACGC chr10:32627741-Alternative-A;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Variant T ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc ATTCGATCTGCT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctTctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAattcgatctgctAGATCGAGACCCGACGC chr10:32627741-Variant-T;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative A ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagccc AAGGACGAGTGT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAaaggacgagtgtAGATCGAGACCCGACGC chr10:32627741-Alternative-A;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative G ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GGAACACAGATT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctGctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAggaacacagattAGATCGAGACCCGACGC chr10:32627741-Alternative-G;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative A ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagccc CTGTGGCGTCTA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAActgtggcgtctaAGATCGAGACCCGACGC chr10:32627741-Alternative-A;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative A ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagccc ATCGTGCGCATC CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAatcgtgcgcatcAGATCGAGACCCGACGC chr10:32627741-Alternative-A;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Reference C ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GATTAGTCATCG CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgattagtcatcgAGATCGAGACCCGACGC chr10:32627741-Reference-C;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Reference C ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc CTTGCGATCATA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAActtgcgatcataAGATCGAGACCCGACGC chr10:32627741-Reference-C;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Alternative A ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GGTCAAGATCAA CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctActggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAggtcaagatcaaAGATCGAGACCCGACGC chr10:32627741-Alternative-A;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Reference C ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc ACCTCGGCAGTT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAacctcggcagttAGATCGAGACCCGACGC chr10:32627741-Reference-C;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Reference C ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc CTTAGCGCTAGG CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAActtagcgctaggAGATCGAGACCCGACGC chr10:32627741-Reference-C;Patient-54 chr10:32627741-CT DeNovo Patient-54 intronic EPC1 NA 4.95e-05 0.01 2.76 -0.83 EPC1 39984 Reference C ttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagccc GTGTAAGCAGGT CGACGCGGTCTCTCTCTttctgtagtatcttgttccactgccacataagaacatatggtggcatcctCctggagtttcagctactcaggaggctgaggtgggaggagcctggagcccAGAGGGAGACGGACGTCTCAATAAgtgtaagcaggtAGATCGAGACCCGACGC chr10:32627741-Reference-C;Patient-54 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative G gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa AGATGCACAACA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAagatgcacaacaAGATCGAGACCCGACGC chr10:32634642-Alternative-G;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Reference T gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa ACAGCGGTTCCA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAacagcggttccaAGATCGAGACCCGACGC chr10:32634642-Reference-T;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Reference T gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GCATCGGCCATA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAgcatcggccataAGATCGAGACCCGACGC chr10:32634642-Reference-T;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Variant C gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CTAGCGTCAGCT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAActagcgtcagctAGATCGAGACCCGACGC chr10:32634642-Variant-C;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Variant C gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CGCCGTCTTCAA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAcgccgtcttcaaAGATCGAGACCCGACGC chr10:32634642-Variant-C;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Variant C gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa AGCATGGTGTGG CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAagcatggtgtggAGATCGAGACCCGACGC chr10:32634642-Variant-C;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Reference T gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa ACCGACGTATAC CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAaccgacgtatacAGATCGAGACCCGACGC chr10:32634642-Reference-T;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Variant C gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GCAACTCCGTCT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAgcaactccgtctAGATCGAGACCCGACGC chr10:32634642-Variant-C;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative A gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CGTCCAGCAAGT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAcgtccagcaagtAGATCGAGACCCGACGC chr10:32634642-Alternative-A;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative A gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GGCGTAACACAC CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAggcgtaacacacAGATCGAGACCCGACGC chr10:32634642-Alternative-A;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Reference T gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CGGTCGTGGTAA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAcggtcgtggtaaAGATCGAGACCCGACGC chr10:32634642-Reference-T;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Variant C gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GTGAATGCACCA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaCtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAgtgaatgcaccaAGATCGAGACCCGACGC chr10:32634642-Variant-C;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative A gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GATAACGTCCAT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAgataacgtccatAGATCGAGACCCGACGC chr10:32634642-Alternative-A;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative A gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GGACCATTGCGT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAggaccattgcgtAGATCGAGACCCGACGC chr10:32634642-Alternative-A;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative G gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa AAGATGCGATAC CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAaagatgcgatacAGATCGAGACCCGACGC chr10:32634642-Alternative-G;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative G gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa ATTCTTGCACCG CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAattcttgcaccgAGATCGAGACCCGACGC chr10:32634642-Alternative-G;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Reference T gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa ACGTCTGTAGAT CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaTtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAacgtctgtagatAGATCGAGACCCGACGC chr10:32634642-Reference-T;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative G gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CGCGTAATATAC CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAcgcgtaatatacAGATCGAGACCCGACGC chr10:32634642-Alternative-G;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative G gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa GCGGTGATTATA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaGtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAgcggtgattataAGATCGAGACCCGACGC chr10:32634642-Alternative-G;Patient-71 chr10:32634642-TC DeNovo Patient-71 intronic EPC1 NA 9.9e-05 0.07 3.8 -2.48 EPC1 33083 Alternative A gaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaa CAAGCCAATTGA CGACGCGGTCTCTCTCTgaacccaacttccacaacaaggtaaagccacagcgatggtaaaatgtctaAtagttgtcaacatttacgtgctgaaacccacccaatttagacatctcaaAGAGGGAGACGGACGTCTCAATAAcaagccaattgaAGATCGAGACCCGACGC chr10:32634642-Alternative-A;Patient-71 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Reference T tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa AGGTTGCTCTAA CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAaggttgctctaaAGATCGAGACCCGACGC chr10:35032878-Reference-T;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative A tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa ATAGGTGGAATC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAataggtggaatcAGATCGAGACCCGACGC chr10:35032878-Alternative-A;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Reference T tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa ATCTTGTTGCAC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAatcttgttgcacAGATCGAGACCCGACGC chr10:35032878-Reference-T;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Variant C tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GTCGCAGTTCCT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgtcgcagttcctAGATCGAGACCCGACGC chr10:35032878-Variant-C;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Variant C tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GACAACTCCGAC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgacaactccgacAGATCGAGACCCGACGC chr10:35032878-Variant-C;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative A tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa ACGATAGAACGG CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAacgatagaacggAGATCGAGACCCGACGC chr10:35032878-Alternative-A;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Variant C tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GTCGGCAAGAAG CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgtcggcaagaagAGATCGAGACCCGACGC chr10:35032878-Variant-C;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative G tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GATGCGGCATTC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgatgcggcattcAGATCGAGACCCGACGC chr10:35032878-Alternative-G;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative A tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa AGGCGTAATACT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAaggcgtaatactAGATCGAGACCCGACGC chr10:35032878-Alternative-A;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Variant C tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GTCATAACGCCT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgtcataacgcctAGATCGAGACCCGACGC chr10:35032878-Variant-C;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Variant C tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa ACGAATCACGTT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaCggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAacgaatcacgttAGATCGAGACCCGACGC chr10:35032878-Variant-C;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Reference T tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GGTGTTCGACGT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAggtgttcgacgtAGATCGAGACCCGACGC chr10:35032878-Reference-T;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative A tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GCATAATGGCTT CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgcataatggcttAGATCGAGACCCGACGC chr10:35032878-Alternative-A;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative G tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa AGCTACCGCATA CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAagctaccgcataAGATCGAGACCCGACGC chr10:35032878-Alternative-G;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Reference T tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa CATTAGGCTATC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAcattaggctatcAGATCGAGACCCGACGC chr10:35032878-Reference-T;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Reference T tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa CGTTATCTGCGC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaTggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAcgttatctgcgcAGATCGAGACCCGACGC chr10:35032878-Reference-T;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative G tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa CGAGATGAACGA CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAcgagatgaacgaAGATCGAGACCCGACGC chr10:35032878-Alternative-G;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative G tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GTAGTCGCGAGA CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAgtagtcgcgagaAGATCGAGACCCGACGC chr10:35032878-Alternative-G;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative G tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa GGTCATAATTGC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaGggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAggtcataattgcAGATCGAGACCCGACGC chr10:35032878-Alternative-G;Patient-69 chr10:35032878-TC DeNovo Patient-69 intronic PARD3 NA 4.95e-05 -0.23 0.59 -7.24 PARD3 71374 Alternative A tgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaa AGCAAGCTACGC CGACGCGGTCTCTCTCTtgccatatatagcagtgctgggcacctggcacagactccctttgcactcaAggctgcctggagaattgctcagagtaacagcatgtctcggctagttaaaAGAGGGAGACGGACGTCTCAATAAagcaagctacgcAGATCGAGACCCGACGC chr10:35032878-Alternative-A;Patient-69 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative T atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg AGCAATCTGCAT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAagcaatctgcatAGATCGAGACCCGACGC chr10:43979020-Alternative-T;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative T atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CACAGATGTCTA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcacagatgtctaAGATCGAGACCCGACGC chr10:43979020-Alternative-T;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Reference G atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CGAATTCTAGCT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcgaattctagctAGATCGAGACCCGACGC chr10:43979020-Reference-G;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative T atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg GCGGAACTATAA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAgcggaactataaAGATCGAGACCCGACGC chr10:43979020-Alternative-T;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Reference G atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg GTAGTAGGATGT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAgtagtaggatgtAGATCGAGACCCGACGC chr10:43979020-Reference-G;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Reference G atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CTTACACGATGG CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAActtacacgatggAGATCGAGACCCGACGC chr10:43979020-Reference-G;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Reference G atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg GGCTGTCTTATT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAggctgtcttattAGATCGAGACCCGACGC chr10:43979020-Reference-G;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative T atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg ACTTATCGCTTC CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAacttatcgcttcAGATCGAGACCCGACGC chr10:43979020-Alternative-T;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Variant C atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg AACGGTATCCAT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAaacggtatccatAGATCGAGACCCGACGC chr10:43979020-Variant-C;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative A atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CTGTCCGCGTAA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAActgtccgcgtaaAGATCGAGACCCGACGC chr10:43979020-Alternative-A;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Reference G atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg ATAAGCGAAGCA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaGgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAataagcgaagcaAGATCGAGACCCGACGC chr10:43979020-Reference-G;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative T atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg ACGCTACATGTT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaTgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAacgctacatgttAGATCGAGACCCGACGC chr10:43979020-Alternative-T;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative A atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CACAGGATCTTA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcacaggatcttaAGATCGAGACCCGACGC chr10:43979020-Alternative-A;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Variant C atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg GCGCGTATAATT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAgcgcgtataattAGATCGAGACCCGACGC chr10:43979020-Variant-C;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Variant C atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg GGTAACGGCTGA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAggtaacggctgaAGATCGAGACCCGACGC chr10:43979020-Variant-C;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative A atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CACTTCGACAGG CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcacttcgacaggAGATCGAGACCCGACGC chr10:43979020-Alternative-A;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Variant C atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg AGAGTACACGAG CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAagagtacacgagAGATCGAGACCCGACGC chr10:43979020-Variant-C;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative A atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CACGAACGGCTA CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcacgaacggctaAGATCGAGACCCGACGC chr10:43979020-Alternative-A;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Variant C atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg CGCAGTATCAGT CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaCgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAcgcagtatcagtAGATCGAGACCCGACGC chr10:43979020-Variant-C;Patient-54 chr10:43979020-GC Inherited Patient-54 intergenic 0.000733 0.000513 0.29 7.15 1.14 HNRNPF 74323 Alternative A atgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccg AGATAGAGCGCG CGACGCGGTCTCTCTCTatgcccagcccttcttttttttttgaatcagaatctcactctgttgcccaAgctggagtgcaggtgcacaatctcagttcactgcaacctcctcctcccgAGAGGGAGACGGACGTCTCAATAAagatagagcgcgAGATCGAGACCCGACGC chr10:43979020-Alternative-A;Patient-54 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative C gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GTTGGTTGCGAG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgttggttgcgagAGATCGAGACCCGACGC chr10:49590997-Alternative-C;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative C gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg AATCGCATGGCG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAaatcgcatggcgAGATCGAGACCCGACGC chr10:49590997-Alternative-C;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative C gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CTTGCCGGAGAA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAActtgccggagaaAGATCGAGACCCGACGC chr10:49590997-Alternative-C;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative C gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg ACACATCGTATC CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAacacatcgtatcAGATCGAGACCCGACGC chr10:49590997-Alternative-C;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative C gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CGACTTCGACGA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtCtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAcgacttcgacgaAGATCGAGACCCGACGC chr10:49590997-Alternative-C;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Reference A gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg ATATGTTCAGCG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAatatgttcagcgAGATCGAGACCCGACGC chr10:49590997-Reference-A;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Reference A gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg AGCCGATCTTCG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAagccgatcttcgAGATCGAGACCCGACGC chr10:49590997-Reference-A;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Reference A gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GTTATGAATCGC CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgttatgaatcgcAGATCGAGACCCGACGC chr10:49590997-Reference-A;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative T gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GTACGTCTTGTT CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgtacgtcttgttAGATCGAGACCCGACGC chr10:49590997-Alternative-T;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Variant G gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CGACTTCTGTCA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAcgacttctgtcaAGATCGAGACCCGACGC chr10:49590997-Variant-G;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Reference A gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GACGTTGGACAG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgacgttggacagAGATCGAGACCCGACGC chr10:49590997-Reference-A;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative T gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GTCGACGGTGAA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgtcgacggtgaaAGATCGAGACCCGACGC chr10:49590997-Alternative-T;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative T gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CGGTCCAATCCT CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAcggtccaatcctAGATCGAGACCCGACGC chr10:49590997-Alternative-T;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Reference A gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg ATTGGACCGTAA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtAtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAattggaccgtaaAGATCGAGACCCGACGC chr10:49590997-Reference-A;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative T gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CTGTCTTGTGCG CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAActgtcttgtgcgAGATCGAGACCCGACGC chr10:49590997-Alternative-T;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Alternative T gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg CGTCTTGTAGTT CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtTtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAcgtcttgtagttAGATCGAGACCCGACGC chr10:49590997-Alternative-T;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Variant G gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GGAGACATAGCA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAggagacatagcaAGATCGAGACCCGACGC chr10:49590997-Variant-G;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Variant G gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg ACCGGACTCAGA CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAaccggactcagaAGATCGAGACCCGACGC chr10:49590997-Variant-G;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Variant G gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GAAGTTCGACGC CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAgaagttcgacgcAGATCGAGACCCGACGC chr10:49590997-Variant-G;Patient-88 chr10:49590997-AG DeNovo Patient-88 intronic MAPK8 NA 0.000487 -0.14 1.09 0 MAPK8 76314 Variant G gtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctg GGCTAATTGAAC CGACGCGGTCTCTCTCTgtgtatatatatatatgtatatatatatagctatgtgtatatatatatgtGtatatatatagatagcctgaatgtcagcttttaattaagctaatttctgAGAGGGAGACGGACGTCTCAATAAggctaattgaacAGATCGAGACCCGACGC chr10:49590997-Variant-G;Patient-88 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative G tgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg AGGTTCATGGAA CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAaggttcatggaaAGATCGAGACCCGACGC chr10:49977764-Alternative-G;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Variant T tgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg AGAGTCATCAAG CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAagagtcatcaagAGATCGAGACCCGACGC chr10:49977764-Variant-T;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative G tgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg GGATCGTGAACG CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAggatcgtgaacgAGATCGAGACCCGACGC chr10:49977764-Alternative-G;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Variant T tgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CATCGTACTGCG CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcatcgtactgcgAGATCGAGACCCGACGC chr10:49977764-Variant-T;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative G tgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg AGCTTGCATGAT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAagcttgcatgatAGATCGAGACCCGACGC chr10:49977764-Alternative-G;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Variant T tgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg AGTGCCGCTAGA CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAagtgccgctagaAGATCGAGACCCGACGC chr10:49977764-Variant-T;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative G tgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CTTAGCTACGTT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAActtagctacgttAGATCGAGACCCGACGC chr10:49977764-Alternative-G;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Variant T tgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CACGCTACTATC CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcacgctactatcAGATCGAGACCCGACGC chr10:49977764-Variant-T;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative G tgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CGGTACCTGGAA CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagGgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcggtacctggaaAGATCGAGACCCGACGC chr10:49977764-Alternative-G;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Variant T tgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg GACTGACTAAGT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagTgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAgactgactaagtAGATCGAGACCCGACGC chr10:49977764-Variant-T;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative A tgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg ACGTGAAGACCA CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAacgtgaagaccaAGATCGAGACCCGACGC chr10:49977764-Alternative-A;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative A tgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg GCCGATCTTGCA CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAgccgatcttgcaAGATCGAGACCCGACGC chr10:49977764-Alternative-A;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative A tgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CGAATATGTCGT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcgaatatgtcgtAGATCGAGACCCGACGC chr10:49977764-Alternative-A;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative A tgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg GGATGCGTCGTT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAggatgcgtcgttAGATCGAGACCCGACGC chr10:49977764-Alternative-A;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Reference C tgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg ATTCAAGCCACG CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAattcaagccacgAGATCGAGACCCGACGC chr10:49977764-Reference-C;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Reference C tgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg ATCGGTGGAACG CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAatcggtggaacgAGATCGAGACCCGACGC chr10:49977764-Reference-C;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Reference C tgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CGGTAATCGACC CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcggtaatcgaccAGATCGAGACCCGACGC chr10:49977764-Reference-C;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Reference C tgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg AGTAACGGCAAT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAagtaacggcaatAGATCGAGACCCGACGC chr10:49977764-Reference-C;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Alternative A tgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg CAAGATGGCGGT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagAgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAcaagatggcggtAGATCGAGACCCGACGC chr10:49977764-Alternative-A;Patient-87 chr10:49977764-CT Inherited Patient-87 intronic WDFY4 0.000159 4.95e-05 0.3 7.25 2.65 WDFY4 84245 Reference C tgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtg GGTAAGGAGATT CGACGCGGTCTCTCTCTtgaacccaacacccatgcctctttaggggacctattgctccaggacccagCgctcgctgggctttggggaccatattaatctggaccaagagagaaagtgAGAGGGAGACGGACGTCTCAATAAggtaaggagattAGATCGAGACCCGACGC chr10:49977764-Reference-C;Patient-87 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Variant G agagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag AGTTCGCTATGA CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAagttcgctatgaAGATCGAGACCCGACGC chr10:50793172-Variant-G;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Variant G agagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag GTACAAGTCGAA CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAgtacaagtcgaaAGATCGAGACCCGACGC chr10:50793172-Variant-G;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Variant G agagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag GTCTCTGTGCAC CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAgtctctgtgcacAGATCGAGACCCGACGC chr10:50793172-Variant-G;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Variant G agagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag GCCGTACGTAAG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAgccgtacgtaagAGATCGAGACCCGACGC chr10:50793172-Variant-G;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Variant G agagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag ATATTCGCACCG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccGtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAatattcgcaccgAGATCGAGACCCGACGC chr10:50793172-Variant-G;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Reference A agagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CTACGATACGCA CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAActacgatacgcaAGATCGAGACCCGACGC chr10:50793172-Reference-A;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative C agagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CGATTAATCCGT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAcgattaatccgtAGATCGAGACCCGACGC chr10:50793172-Alternative-C;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative C agagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CTCTGAAGTGAT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAActctgaagtgatAGATCGAGACCCGACGC chr10:50793172-Alternative-C;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Reference A agagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag ATACCATGCTTC CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAataccatgcttcAGATCGAGACCCGACGC chr10:50793172-Reference-A;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative T agagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag ACCTCCGTATGG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAacctccgtatggAGATCGAGACCCGACGC chr10:50793172-Alternative-T;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative T agagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag ACCTGTTGTCAT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAacctgttgtcatAGATCGAGACCCGACGC chr10:50793172-Alternative-T;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative C agagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CACGCGATCGTT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAcacgcgatcgttAGATCGAGACCCGACGC chr10:50793172-Alternative-C;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative T agagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CGAGTCTCGTCT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAcgagtctcgtctAGATCGAGACCCGACGC chr10:50793172-Alternative-T;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative T agagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag AACTTCTGGTCT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAaacttctggtctAGATCGAGACCCGACGC chr10:50793172-Alternative-T;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative C agagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CAGATACGGTGG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAcagatacggtggAGATCGAGACCCGACGC chr10:50793172-Alternative-C;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Reference A agagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CTAATACGTCGG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAActaatacgtcggAGATCGAGACCCGACGC chr10:50793172-Reference-A;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Reference A agagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag GAGTAATCGGTT CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAgagtaatcggttAGATCGAGACCCGACGC chr10:50793172-Reference-A;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative C agagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CAAGTCTAGCTA CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccCtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAcaagtctagctaAGATCGAGACCCGACGC chr10:50793172-Alternative-C;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Alternative T agagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag GATATAGCGCTA CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccTtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAAgatatagcgctaAGATCGAGACCCGACGC chr10:50793172-Alternative-T;Patient-56 chr10:50793172-AG DeNovo Patient-56 intergenic 0.000414 0.00073 0.29 7.08 0.16 CHAT 23968 Reference A agagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaag CTAGAATGGCCG CGACGCGGTCTCTCTCTagagtgagtctgttataaaagccagtttggcatgctctagctccctctccAtgtgatgcccagtgctgccgcaaaattctgcggagtccacaccagcaagAGAGGGAGACGGACGTCTCAATAActagaatggccgAGATCGAGACCCGACGC chr10:50793172-Reference-A;Patient-56 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Variant T ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatc CGATACCTGTGC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcgatacctgtgcAGATCGAGACCCGACGC chr10:52329147-Variant-T;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Variant T ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatc CGCGGAAGTGAA CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcgcggaagtgaaAGATCGAGACCCGACGC chr10:52329147-Variant-T;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Variant T ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatc ATTGCCGGACGT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAattgccggacgtAGATCGAGACCCGACGC chr10:52329147-Variant-T;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative A ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatc GTGCTTCATTCA CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAgtgcttcattcaAGATCGAGACCCGACGC chr10:52329147-Alternative-A;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Variant T ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatc CAACGGTCGTAC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcaacggtcgtacAGATCGAGACCCGACGC chr10:52329147-Variant-T;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative A ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatc AGTATAACGGAC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAagtataacggacAGATCGAGACCCGACGC chr10:52329147-Alternative-A;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Variant T ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatc GGCGAATTGATT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaTatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAggcgaattgattAGATCGAGACCCGACGC chr10:52329147-Variant-T;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative A ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatc GATGATTGTCGT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAgatgattgtcgtAGATCGAGACCCGACGC chr10:52329147-Alternative-A;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Reference C ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatc CAACTAAGCGGC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcaactaagcggcAGATCGAGACCCGACGC chr10:52329147-Reference-C;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative G ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatc GACGCAACGAAC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAgacgcaacgaacAGATCGAGACCCGACGC chr10:52329147-Alternative-G;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative A ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatc AATACTTGCGAC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAaatacttgcgacAGATCGAGACCCGACGC chr10:52329147-Alternative-A;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative A ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatc ACGTGGACAAGT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaAatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAacgtggacaagtAGATCGAGACCCGACGC chr10:52329147-Alternative-A;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Reference C ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatc CGCCTTCGACAT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcgccttcgacatAGATCGAGACCCGACGC chr10:52329147-Reference-C;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Reference C ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatc ATAGCTGAACAG CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAatagctgaacagAGATCGAGACCCGACGC chr10:52329147-Reference-C;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative G ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatc ACGAACATCGTC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAacgaacatcgtcAGATCGAGACCCGACGC chr10:52329147-Alternative-G;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative G ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatc AAGATACCTGCT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAaagatacctgctAGATCGAGACCCGACGC chr10:52329147-Alternative-G;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative G ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatc GGCTAATCTTGT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAggctaatcttgtAGATCGAGACCCGACGC chr10:52329147-Alternative-G;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Alternative G ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatc CAGCGATGTAAT CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaGatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcagcgatgtaatAGATCGAGACCCGACGC chr10:52329147-Alternative-G;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Reference C ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatc CGAGTATAGTCA CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAcgagtatagtcaAGATCGAGACCCGACGC chr10:52329147-Reference-C;Patient-58 chr10:52329147-CT Inherited Patient-58 intronic SGMS1 0.000737 0.00144 -0.11 1.35 -1.35 SGMS1 54589 Reference C ttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatc GTGTTGGTTAAC CGACGCGGTCTCTCTCTttttttggaaaggatgaaaagtaaggatgccagggaatggaggaacctgaCatagcagaaagaagactggttttagagttggtagaaagttctttctatcAGAGGGAGACGGACGTCTCAATAAgtgttggttaacAGATCGAGACCCGACGC chr10:52329147-Reference-C;Patient-58 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative T ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg AAGGCTTCGGAC CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAaaggcttcggacAGATCGAGACCCGACGC chr10:52382353-Alternative-T;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative C ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GGTCGGAAGCTT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAggtcggaagcttAGATCGAGACCCGACGC chr10:52382353-Alternative-C;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative C ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg AAGCGTTGAGAA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAaagcgttgagaaAGATCGAGACCCGACGC chr10:52382353-Alternative-C;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative T ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg ACAACAGGTACA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAacaacaggtacaAGATCGAGACCCGACGC chr10:52382353-Alternative-T;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative T ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg CAGCATACGGAG CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAcagcatacggagAGATCGAGACCCGACGC chr10:52382353-Alternative-T;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative C ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GTTCAATCAGCA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAgttcaatcagcaAGATCGAGACCCGACGC chr10:52382353-Alternative-C;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative C ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GTTGTTCGAGCG CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAgttgttcgagcgAGATCGAGACCCGACGC chr10:52382353-Alternative-C;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Variant A ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg CGCTTGGATATC CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAcgcttggatatcAGATCGAGACCCGACGC chr10:52382353-Variant-A;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Variant A ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GGATATGTGGAT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAggatatgtggatAGATCGAGACCCGACGC chr10:52382353-Variant-A;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Variant A ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg ACACGGCGATAT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAacacggcgatatAGATCGAGACCCGACGC chr10:52382353-Variant-A;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative T ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg AACGTCAGTTGT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAaacgtcagttgtAGATCGAGACCCGACGC chr10:52382353-Alternative-T;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Reference G ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GCGACATCGCTA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAgcgacatcgctaAGATCGAGACCCGACGC chr10:52382353-Reference-G;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Variant A ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GTGATCTCAAGT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAgtgatctcaagtAGATCGAGACCCGACGC chr10:52382353-Variant-A;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative T ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg AGTCGTGCATAT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataTaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAagtcgtgcatatAGATCGAGACCCGACGC chr10:52382353-Alternative-T;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Reference G ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg CGAATCCTAGTT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAcgaatcctagttAGATCGAGACCCGACGC chr10:52382353-Reference-G;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Reference G ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg AGTGCGACAACT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAagtgcgacaactAGATCGAGACCCGACGC chr10:52382353-Reference-G;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Reference G ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg GATGCCGGCTAA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAgatgccggctaaAGATCGAGACCCGACGC chr10:52382353-Reference-G;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Reference G ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg CTCTCGATACAG CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataGaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAActctcgatacagAGATCGAGACCCGACGC chr10:52382353-Reference-G;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Alternative C ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg ACCACATTAGCT CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataCaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAaccacattagctAGATCGAGACCCGACGC chr10:52382353-Alternative-C;Patient-109 chr10:52382353-GA DeNovo Patient-109 intronic SGMS1 NA 3.84e-05 0.88 12.45 -0.07 SGMS1 1383 Variant A ggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcg CAACTCGCACTA CGACGCGGTCTCTCTCTggaagataaatgtcaagggagctaaaatagtcgacaggccccagaacataAaaaataaacttccctttcagaaagcagccttcacttggtttcgtaagcgAGAGGGAGACGGACGTCTCAATAAcaactcgcactaAGATCGAGACCCGACGC chr10:52382353-Variant-A;Patient-109 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Reference C aaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GACCATTGGATT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAgaccattggattAGATCGAGACCCGACGC chr10:5321431-Reference-C;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Reference C aaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GGTACCGTCGAT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAggtaccgtcgatAGATCGAGACCCGACGC chr10:5321431-Reference-C;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative A aaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat CAACTCCTTGGT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAcaactccttggtAGATCGAGACCCGACGC chr10:5321431-Alternative-A;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative G aaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat CTGTGGACACAC CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAActgtggacacacAGATCGAGACCCGACGC chr10:5321431-Alternative-G;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative G aaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ACACGCTCAATA CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAacacgctcaataAGATCGAGACCCGACGC chr10:5321431-Alternative-G;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Reference C aaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ATCTGTACGCGC CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAatctgtacgcgcAGATCGAGACCCGACGC chr10:5321431-Reference-C;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Reference C aaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GGTCGTATCGAC CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAggtcgtatcgacAGATCGAGACCCGACGC chr10:5321431-Reference-C;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Reference C aaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat AAGGCCGAACGA CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgCtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAaaggccgaacgaAGATCGAGACCCGACGC chr10:5321431-Reference-C;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative A aaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat CAGTATCCGAGT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAcagtatccgagtAGATCGAGACCCGACGC chr10:5321431-Alternative-A;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative G aaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GCAGTTCCACGA CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAgcagttccacgaAGATCGAGACCCGACGC chr10:5321431-Alternative-G;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative A aaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat AGAGCTACGGCA CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAagagctacggcaAGATCGAGACCCGACGC chr10:5321431-Alternative-A;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative G aaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GGACAGACACCT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAggacagacacctAGATCGAGACCCGACGC chr10:5321431-Alternative-G;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Variant T aaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ATCTGCGTAGTT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAatctgcgtagttAGATCGAGACCCGACGC chr10:5321431-Variant-T;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Variant T aaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat CATTCTAAGACG CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAcattctaagacgAGATCGAGACCCGACGC chr10:5321431-Variant-T;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative A aaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat GTCGTCGGTAAG CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAgtcgtcggtaagAGATCGAGACCCGACGC chr10:5321431-Alternative-A;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Variant T aaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ATATATCGCGCT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAatatatcgcgctAGATCGAGACCCGACGC chr10:5321431-Variant-T;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Variant T aaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ATTGAAGCGTCC CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAattgaagcgtccAGATCGAGACCCGACGC chr10:5321431-Variant-T;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative A aaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ACGTGGACCTAC CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgAtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAacgtggacctacAGATCGAGACCCGACGC chr10:5321431-Alternative-A;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Variant T aaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat CGGAACGGCAAT CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgTtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAcggaacggcaatAGATCGAGACCCGACGC chr10:5321431-Variant-T;Patient-64 chr10:5321431-CT DeNovo Patient-64 intergenic NA 0.000513 -0.09 1.5 -0.12 UCN3 85544 Alternative G aaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagat ATCTCGGCAACG CGACGCGGTCTCTCTCTaaaattatattttagcactcatgatatttactaacaacaagaaattattgGtacaatttcaagtggtataaaagtattctggcaatgtttatttaaagatAGAGGGAGACGGACGTCTCAATAAatctcggcaacgAGATCGAGACCCGACGC chr10:5321431-Alternative-G;Patient-64 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Reference C acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CGCTATCCTGAC CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAcgctatcctgacAGATCGAGACCCGACGC chr10:5514916-Reference-C;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Reference C acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GCGAATGCGGAA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAgcgaatgcggaaAGATCGAGACCCGACGC chr10:5514916-Reference-C;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Reference C acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggttt AACACGCTAGAT CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAaacacgctagatAGATCGAGACCCGACGC chr10:5514916-Reference-C;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Reference C acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggttt ATTCGGCTAGCG CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAattcggctagcgAGATCGAGACCCGACGC chr10:5514916-Reference-C;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Reference C acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggttt ATTCGACGGTCG CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccCgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAattcgacggtcgAGATCGAGACCCGACGC chr10:5514916-Reference-C;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative A acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CGTCCTACATAT CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAcgtcctacatatAGATCGAGACCCGACGC chr10:5514916-Alternative-A;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative A acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CTTGTTAATCGG CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAActtgttaatcggAGATCGAGACCCGACGC chr10:5514916-Alternative-A;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative A acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GAGTTAGAGCAA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAgagttagagcaaAGATCGAGACCCGACGC chr10:5514916-Alternative-A;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative A acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggttt AAGCGCGCCAAT CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAaagcgcgccaatAGATCGAGACCCGACGC chr10:5514916-Alternative-A;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Variant T acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GATTAGGTAGGT CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAgattaggtaggtAGATCGAGACCCGACGC chr10:5514916-Variant-T;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative G acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggttt AGCGTCATGTCG CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAagcgtcatgtcgAGATCGAGACCCGACGC chr10:5514916-Alternative-G;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative G acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GTCGCGTCTATC CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAgtcgcgtctatcAGATCGAGACCCGACGC chr10:5514916-Alternative-G;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative A acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GGCAGTATATGA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccAgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAggcagtatatgaAGATCGAGACCCGACGC chr10:5514916-Alternative-A;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative G acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GGAATGGCTACC CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAggaatggctaccAGATCGAGACCCGACGC chr10:5514916-Alternative-G;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Variant T acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CAGGCGAAGACA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAcaggcgaagacaAGATCGAGACCCGACGC chr10:5514916-Variant-T;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative G acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CTGGTAGACGAA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAActggtagacgaaAGATCGAGACCCGACGC chr10:5514916-Alternative-G;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Variant T acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CTACGCTACGTC CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAActacgctacgtcAGATCGAGACCCGACGC chr10:5514916-Variant-T;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Variant T acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggttt GACTAGTTGGTT CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAgactagttggttAGATCGAGACCCGACGC chr10:5514916-Variant-T;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Alternative G acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggttt CAACCAACGAAG CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccGgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAcaaccaacgaagAGATCGAGACCCGACGC chr10:5514916-Alternative-G;Patient-101 chr10:5514916-CT DeNovo Patient-101 intergenic 0.000586 0.00103 -0.13 1.17 0 CALML5 26616 Variant T acgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggttt AGCTACATCCAA CGACGCGGTCTCTCTCTacgccattctcctgcctcagcctctccaagtagctgggactacaggcaccTgccaccacgcccggctaatttttttgtatttttagtagagatggggtttAGAGGGAGACGGACGTCTCAATAAagctacatccaaAGATCGAGACCCGACGC chr10:5514916-Variant-T;Patient-101 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Reference G tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CTTGGACAGATT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAActtggacagattAGATCGAGACCCGACGC chr10:5535555-Reference-G;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Reference G tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CTAACGTTGACC CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAActaacgttgaccAGATCGAGACCCGACGC chr10:5535555-Reference-G;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Reference G tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CTATGGTCGATA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAActatggtcgataAGATCGAGACCCGACGC chr10:5535555-Reference-G;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Reference G tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GTAGTCGGCGAA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgtagtcggcgaaAGATCGAGACCCGACGC chr10:5535555-Reference-G;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Reference G tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CGAACGAAGCTA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaGaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAcgaacgaagctaAGATCGAGACCCGACGC chr10:5535555-Reference-G;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Variant A tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatctt ACGTGATAAGCA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAacgtgataagcaAGATCGAGACCCGACGC chr10:5535555-Variant-A;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative T tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatctt AGTCGGCGTAAG CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAagtcggcgtaagAGATCGAGACCCGACGC chr10:5535555-Alternative-T;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative T tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GATTAACGTCGC CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgattaacgtcgcAGATCGAGACCCGACGC chr10:5535555-Alternative-T;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative C tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GCGAAGCTGACT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgcgaagctgactAGATCGAGACCCGACGC chr10:5535555-Alternative-C;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative C tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatctt AACGTCCAAGCG CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAaacgtccaagcgAGATCGAGACCCGACGC chr10:5535555-Alternative-C;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative T tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GTTAGAGGTACT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgttagaggtactAGATCGAGACCCGACGC chr10:5535555-Alternative-T;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Variant A tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatctt AGTAAGTCCGTT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAagtaagtccgttAGATCGAGACCCGACGC chr10:5535555-Variant-A;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative T tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CATGTTCACATC CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAcatgttcacatcAGATCGAGACCCGACGC chr10:5535555-Alternative-T;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative C tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatctt AGCGTAAGGATA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAagcgtaaggataAGATCGAGACCCGACGC chr10:5535555-Alternative-C;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Variant A tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CTGTGTTCCAAT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAActgtgttccaatAGATCGAGACCCGACGC chr10:5535555-Variant-A;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Variant A tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CGAAGTATTCGC CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAcgaagtattcgcAGATCGAGACCCGACGC chr10:5535555-Variant-A;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative C tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CGGTCAACGCAT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAcggtcaacgcatAGATCGAGACCCGACGC chr10:5535555-Alternative-C;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative C tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GTAGATGCAGAT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaCaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgtagatgcagatAGATCGAGACCCGACGC chr10:5535555-Alternative-C;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Variant A tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatctt GCCACGAACGAT CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaAaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAgccacgaacgatAGATCGAGACCCGACGC chr10:5535555-Variant-A;Patient-39 chr10:5535555-GA DeNovo Patient-39 intergenic NA 0.000513 -0.18 0.81 0 NET1 81040 Alternative T tccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatctt CAGACGGCATGA CGACGCGGTCTCTCTCTtccctgctcgatgacctctcatcttcaggagactggcgaagctccctctaTaactttctccctgcttgacgacctccctcctgccccctcctctcatcttAGAGGGAGACGGACGTCTCAATAAcagacggcatgaAGATCGAGACCCGACGC chr10:5535555-Alternative-T;Patient-39 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Reference C tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccag CTCACGCGAGAA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAActcacgcgagaaAGATCGAGACCCGACGC chr10:5639574-Reference-C;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Reference C tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccag ACGCAATCTAGG CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAacgcaatctaggAGATCGAGACCCGACGC chr10:5639574-Reference-C;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Variant T tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccag GTCAGTATACCA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgtcagtataccaAGATCGAGACCCGACGC chr10:5639574-Variant-T;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative A tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccag GTAATACGTACC CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgtaatacgtaccAGATCGAGACCCGACGC chr10:5639574-Alternative-A;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative A tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccag GTTGACGTAAGA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgttgacgtaagaAGATCGAGACCCGACGC chr10:5639574-Alternative-A;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Reference C tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccag CGTTGAGTGGAG CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAcgttgagtggagAGATCGAGACCCGACGC chr10:5639574-Reference-C;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative A tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccag GAGATCCTATAC CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgagatcctatacAGATCGAGACCCGACGC chr10:5639574-Alternative-A;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Reference C tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccag ACGGTCGCGTAA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAacggtcgcgtaaAGATCGAGACCCGACGC chr10:5639574-Reference-C;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative A tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccag GTCGGCTGGTTA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgtcggctggttaAGATCGAGACCCGACGC chr10:5639574-Alternative-A;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Variant T tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccag ACAAGCCTTAGG CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAacaagccttaggAGATCGAGACCCGACGC chr10:5639574-Variant-T;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Variant T tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccag CGCGCTTGATGT CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAcgcgcttgatgtAGATCGAGACCCGACGC chr10:5639574-Variant-T;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Variant T tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccag ACCTACATCTAC CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAacctacatctacAGATCGAGACCCGACGC chr10:5639574-Variant-T;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative A tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccag AACTCAACGCTT CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccAtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAaactcaacgcttAGATCGAGACCCGACGC chr10:5639574-Alternative-A;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative G tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccag AAGATTCGCGCG CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAaagattcgcgcgAGATCGAGACCCGACGC chr10:5639574-Alternative-G;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Reference C tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccag ATCATAACGTGC CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccCtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAatcataacgtgcAGATCGAGACCCGACGC chr10:5639574-Reference-C;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative G tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccag AGATGAGTGTAC CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAagatgagtgtacAGATCGAGACCCGACGC chr10:5639574-Alternative-G;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative G tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccag GTCAACTAACCT CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgtcaactaacctAGATCGAGACCCGACGC chr10:5639574-Alternative-G;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative G tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccag CAGCAGTTACCA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAcagcagttaccaAGATCGAGACCCGACGC chr10:5639574-Alternative-G;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Variant T tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccag GTGACTATGTCA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccTtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAgtgactatgtcaAGATCGAGACCCGACGC chr10:5639574-Variant-T;Patient-85 chr10:5639574-CT DeNovo Patient-85 intergenic 3.2e-05 0.000513 -0.62 0.04 -0.82 CALML3 72649 Alternative G tgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccag ACTTCGTACGAA CGACGCGGTCTCTCTCTtgacctgagaaaggagagtggctgaggagagggcagcaggggatgcccccGtcatggggggatgctccccacccctccctttagtactgagggaccccagAGAGGGAGACGGACGTCTCAATAAacttcgtacgaaAGATCGAGACCCGACGC chr10:5639574-Alternative-G;Patient-85 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Reference A gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact CGGTCATGACCT CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAcggtcatgacctAGATCGAGACCCGACGC chr10:56559064-Reference-A;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Reference A gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GTGATCGCGTTC CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgtgatcgcgttcAGATCGAGACCCGACGC chr10:56559064-Reference-A;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Reference A gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ACGTGTAGTCAT CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAacgtgtagtcatAGATCGAGACCCGACGC chr10:56559064-Reference-A;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Variant G gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GCGACAGATAAG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgcgacagataagAGATCGAGACCCGACGC chr10:56559064-Variant-G;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Reference A gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GGTCGTTCACAG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAggtcgttcacagAGATCGAGACCCGACGC chr10:56559064-Reference-A;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative T gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact AGATTACGACGA CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAagattacgacgaAGATCGAGACCCGACGC chr10:56559064-Alternative-T;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative T gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact CTAAGGTTCACA CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAActaaggttcacaAGATCGAGACCCGACGC chr10:56559064-Alternative-T;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Variant G gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GTAGCCAAGTCG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgtagccaagtcgAGATCGAGACCCGACGC chr10:56559064-Variant-G;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Variant G gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GTCGTGATCACG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgtcgtgatcacgAGATCGAGACCCGACGC chr10:56559064-Variant-G;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative T gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact AGTAGTGGCGCT CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAagtagtggcgctAGATCGAGACCCGACGC chr10:56559064-Alternative-T;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative T gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ACAACAGGAGAA CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAacaacaggagaaAGATCGAGACCCGACGC chr10:56559064-Alternative-T;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Variant G gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ACAATTACGGAC CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAacaattacggacAGATCGAGACCCGACGC chr10:56559064-Variant-G;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative C gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ATACAATTGGCG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAatacaattggcgAGATCGAGACCCGACGC chr10:56559064-Alternative-C;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Variant G gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GATCCTTCGTGC CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttGaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgatccttcgtgcAGATCGAGACCCGACGC chr10:56559064-Variant-G;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative T gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ATTGCTCGTTCA CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttTaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAattgctcgttcaAGATCGAGACCCGACGC chr10:56559064-Alternative-T;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative C gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ACGCGTGGTTCA CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAacgcgtggttcaAGATCGAGACCCGACGC chr10:56559064-Alternative-C;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Reference A gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GCGCATGCTGTT CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttAaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgcgcatgctgttAGATCGAGACCCGACGC chr10:56559064-Reference-A;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative C gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact GCGTCTATCGAG CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAgcgtctatcgagAGATCGAGACCCGACGC chr10:56559064-Alternative-C;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative C gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact ATCGCGCACATC CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAAatcgcgcacatcAGATCGAGACCCGACGC chr10:56559064-Alternative-C;Patient-69 chr10:56559064-AG DeNovo Patient-69 intronic PCDH15 NA 0.00016 0.03 3.07 -0.83 PCDH15 1986 Alternative C gctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcact CTTAGCCGCATC CGACGCGGTCTCTCTCTgctgtgaaagttgtataataaaaagatacaacacataccatgcaaaatttCaatgtgaacaaattaagagcaaagttgtaatggacatttatttttcactAGAGGGAGACGGACGTCTCAATAActtagccgcatcAGATCGAGACCCGACGC chr10:56559064-Alternative-C;Patient-69 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Variant G tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc AGCTATTGTCCT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAagctattgtcctAGATCGAGACCCGACGC chr10:58139216-Variant-G;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Variant G tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc AGATAGTGCCGC CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAagatagtgccgcAGATCGAGACCCGACGC chr10:58139216-Variant-G;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Variant G tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc CGACTGTAACGA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAcgactgtaacgaAGATCGAGACCCGACGC chr10:58139216-Variant-G;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Variant G tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc AACGACATGAGT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAaacgacatgagtAGATCGAGACCCGACGC chr10:58139216-Variant-G;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Reference T tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GTACCACTCCGT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgtaccactccgtAGATCGAGACCCGACGC chr10:58139216-Reference-T;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Variant G tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc AGCGTGACAAGG CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatGgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAagcgtgacaaggAGATCGAGACCCGACGC chr10:58139216-Variant-G;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative C tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GGACCTTGCGAA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAggaccttgcgaaAGATCGAGACCCGACGC chr10:58139216-Alternative-C;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative C tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GTATTAACGTGC CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgtattaacgtgcAGATCGAGACCCGACGC chr10:58139216-Alternative-C;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Reference T tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc ACCTAACGACTT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAacctaacgacttAGATCGAGACCCGACGC chr10:58139216-Reference-T;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Reference T tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GGTTCGGTGGAA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAggttcggtggaaAGATCGAGACCCGACGC chr10:58139216-Reference-T;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative C tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GTACACCGAATA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgtacaccgaataAGATCGAGACCCGACGC chr10:58139216-Alternative-C;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Reference T tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GCCAAGAGTTAT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgccaagagttatAGATCGAGACCCGACGC chr10:58139216-Reference-T;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative A tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GAGTATCGAGAA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgagtatcgagaaAGATCGAGACCCGACGC chr10:58139216-Alternative-A;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative C tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc CTGTTCCATCGG CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAActgttccatcggAGATCGAGACCCGACGC chr10:58139216-Alternative-C;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative A tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc CTTATCCTTCGT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAActtatccttcgtAGATCGAGACCCGACGC chr10:58139216-Alternative-A;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Reference T tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GATTGGATCGAA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatTgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgattggatcgaaAGATCGAGACCCGACGC chr10:58139216-Reference-T;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative C tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc CTACGTAACGAG CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatCgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAActacgtaacgagAGATCGAGACCCGACGC chr10:58139216-Alternative-C;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative A tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc AAGCGCGAGCAT CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAaagcgcgagcatAGATCGAGACCCGACGC chr10:58139216-Alternative-A;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative A tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc CATCCAACCGCA CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAcatccaaccgcaAGATCGAGACCCGACGC chr10:58139216-Alternative-A;Patient-87 chr10:58139216-TG DeNovo Patient-87 intergenic NA 0.000513 0.1 4.23 0.39 ZWINT 18181 Alternative A tgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagc GCACGCAAGTAC CGACGCGGTCTCTCTCTtgtacatttttttgaagcaatggcatatgtagggcatgagtcaaaaagatAgagctgccaaaaaatgaaaggctcaacacagctttcacctgtgagcagcAGAGGGAGACGGACGTCTCAATAAgcacgcaagtacAGATCGAGACCCGACGC chr10:58139216-Alternative-A;Patient-87 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Reference G ttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttc GATCCGTGCGAA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAgatccgtgcgaaAGATCGAGACCCGACGC chr10:60122846-Reference-G;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Reference G ttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttc ACTTCTGTGCAT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAacttctgtgcatAGATCGAGACCCGACGC chr10:60122846-Reference-G;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Reference G ttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttc AGGCGAGTAACA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAaggcgagtaacaAGATCGAGACCCGACGC chr10:60122846-Reference-G;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Reference G ttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGCGCACCTAAT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgcgcacctaatAGATCGAGACCCGACGC chr10:60122846-Reference-G;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Variant A ttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGCTGCATTCGT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgctgcattcgtAGATCGAGACCCGACGC chr10:60122846-Variant-A;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Variant A ttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGTTCAATGGCG CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgttcaatggcgAGATCGAGACCCGACGC chr10:60122846-Variant-A;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative C ttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttc AGCGCTGAGAGT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAagcgctgagagtAGATCGAGACCCGACGC chr10:60122846-Alternative-C;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Variant A ttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CTAATGATGTGC CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAActaatgatgtgcAGATCGAGACCCGACGC chr10:60122846-Variant-A;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative T ttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttc GGATAGTCATGA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAggatagtcatgaAGATCGAGACCCGACGC chr10:60122846-Alternative-T;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Variant A ttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttc ATTGCAATGTCG CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAattgcaatgtcgAGATCGAGACCCGACGC chr10:60122846-Variant-A;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative T ttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGAATACGCCGT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgaatacgccgtAGATCGAGACCCGACGC chr10:60122846-Alternative-T;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Variant A ttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttc AAGGAGGTTGTT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacAaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAaaggaggttgttAGATCGAGACCCGACGC chr10:60122846-Variant-A;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative T ttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CACATCGATCGA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcacatcgatcgaAGATCGAGACCCGACGC chr10:60122846-Alternative-T;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative T ttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttc GCGTAATCGTCG CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAgcgtaatcgtcgAGATCGAGACCCGACGC chr10:60122846-Alternative-T;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative C ttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGAAGTGACTAA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgaagtgactaaAGATCGAGACCCGACGC chr10:60122846-Alternative-C;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative C ttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttc AGCGTGTGCTGT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAagcgtgtgctgtAGATCGAGACCCGACGC chr10:60122846-Alternative-C;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Reference G ttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttc CGTCGGTTCGTT CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacGaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAcgtcggttcgttAGATCGAGACCCGACGC chr10:60122846-Reference-G;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative T ttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttc GATTCCTTATGC CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacTaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAgattccttatgcAGATCGAGACCCGACGC chr10:60122846-Alternative-T;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative C ttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttc AGTGTACGCGCA CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAagtgtacgcgcaAGATCGAGACCCGACGC chr10:60122846-Alternative-C;Patient-31 chr10:60122846-GA DeNovo Patient-31 intronic UBE2D1 NA 4.95e-05 0.69 11.01 2.86 TFAM 22056 Alternative C ttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttc GATACAGTACAG CGACGCGGTCTCTCTCTttttggatttttttgggttctctacattattttataaataattactaaacCaagatttggcacataaattgtgtagcagggtccttagcattttcttttcAGAGGGAGACGGACGTCTCAATAAgatacagtacagAGATCGAGACCCGACGC chr10:60122846-Alternative-C;Patient-31 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative T ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatatt ACGGCGGTAAGA CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAacggcggtaagaAGATCGAGACCCGACGC chr10:60159145-Alternative-T;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Variant C ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatatt ATAGCCACCAAC CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAatagccaccaacAGATCGAGACCCGACGC chr10:60159145-Variant-C;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Variant C ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatatt AGGTGGAGCAAG CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAaggtggagcaagAGATCGAGACCCGACGC chr10:60159145-Variant-C;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Variant C ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatatt GTAAGGAGTCAT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAgtaaggagtcatAGATCGAGACCCGACGC chr10:60159145-Variant-C;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Reference G ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatatt CATGACGCTATT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAcatgacgctattAGATCGAGACCCGACGC chr10:60159145-Reference-G;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Variant C ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatatt GACGTACCTAGA CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAgacgtacctagaAGATCGAGACCCGACGC chr10:60159145-Variant-C;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Reference G ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatatt GCGAATTGCGGT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAgcgaattgcggtAGATCGAGACCCGACGC chr10:60159145-Reference-G;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative T ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatatt GCAGAAGCATCA CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAgcagaagcatcaAGATCGAGACCCGACGC chr10:60159145-Alternative-T;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Reference G ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatatt ACGAGATGAACG CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAacgagatgaacgAGATCGAGACCCGACGC chr10:60159145-Reference-G;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Reference G ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatatt GGTCTTGGATGC CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAggtcttggatgcAGATCGAGACCCGACGC chr10:60159145-Reference-G;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative A ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatatt CTAAGTACCGTT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAActaagtaccgttAGATCGAGACCCGACGC chr10:60159145-Alternative-A;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative A ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatatt GAATGGTAGCTA CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAgaatggtagctaAGATCGAGACCCGACGC chr10:60159145-Alternative-A;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative A ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatatt CGCAGATCGTTC CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAcgcagatcgttcAGATCGAGACCCGACGC chr10:60159145-Alternative-A;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Reference G ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatatt GGATGAATCAGT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttGacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAggatgaatcagtAGATCGAGACCCGACGC chr10:60159145-Reference-G;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative T ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatatt ATACTATACCGG CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAatactataccggAGATCGAGACCCGACGC chr10:60159145-Alternative-T;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative T ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatatt CTTGGATCGCCA CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAActtggatcgccaAGATCGAGACCCGACGC chr10:60159145-Alternative-T;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative T ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatatt AACAAGGTAGCT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttTacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAaacaaggtagctAGATCGAGACCCGACGC chr10:60159145-Alternative-T;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Variant C ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatatt ACGTTAGCGACC CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttCacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAacgttagcgaccAGATCGAGACCCGACGC chr10:60159145-Variant-C;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative A ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatatt ATCACGAACGTT CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAAatcacgaacgttAGATCGAGACCCGACGC chr10:60159145-Alternative-A;Patient-103 chr10:60159145-GC DeNovo Patient-103 intergenic NA 0.000160205 0.11 4.38 1.53 UBE2D1 64405 Alternative A ccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatatt CTACAATTGCAG CGACGCGGTCTCTCTCTccacaaatcaggtatacaatgggggaagagggaaaggagtacatagttttAacacagtgaccttttattatataggttaccaactgctagccttcatattAGAGGGAGACGGACGTCTCAATAActacaattgcagAGATCGAGACCCGACGC chr10:60159145-Alternative-A;Patient-103 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Reference G caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CACGCTGAAGAT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAcacgctgaagatAGATCGAGACCCGACGC chr10:6156782-Reference-G;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Reference G caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CGTCGGTTGTGA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAcgtcggttgtgaAGATCGAGACCCGACGC chr10:6156782-Reference-G;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Reference G caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga AGAATGTGGTCA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAagaatgtggtcaAGATCGAGACCCGACGC chr10:6156782-Reference-G;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Reference G caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga ACAACGCATCAA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAacaacgcatcaaAGATCGAGACCCGACGC chr10:6156782-Reference-G;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative T caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga AGTAGTCAGACT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAagtagtcagactAGATCGAGACCCGACGC chr10:6156782-Alternative-T;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Reference G caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga ACACCTCTAACT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggGtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAacacctctaactAGATCGAGACCCGACGC chr10:6156782-Reference-G;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative C caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GTACCGGTCTAC CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAgtaccggtctacAGATCGAGACCCGACGC chr10:6156782-Alternative-C;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Variant A caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GGTCAATATCGT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAggtcaatatcgtAGATCGAGACCCGACGC chr10:6156782-Variant-A;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Variant A caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga ACTTAACACGCA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAacttaacacgcaAGATCGAGACCCGACGC chr10:6156782-Variant-A;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative C caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GGATATCTCGCG CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAggatatctcgcgAGATCGAGACCCGACGC chr10:6156782-Alternative-C;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative C caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GGCTCTAGGCTA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAggctctaggctaAGATCGAGACCCGACGC chr10:6156782-Alternative-C;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Variant A caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CACGCGAGATCA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAcacgcgagatcaAGATCGAGACCCGACGC chr10:6156782-Variant-A;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Variant A caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GTTCACTGGACG CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAgttcactggacgAGATCGAGACCCGACGC chr10:6156782-Variant-A;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative T caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga ACGCAACCAGTC CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAacgcaaccagtcAGATCGAGACCCGACGC chr10:6156782-Alternative-T;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative C caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CAGCGTCAGGTT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAcagcgtcaggttAGATCGAGACCCGACGC chr10:6156782-Alternative-C;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative C caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga GTAGGAGCTAAC CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggCtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAgtaggagctaacAGATCGAGACCCGACGC chr10:6156782-Alternative-C;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative T caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga AACAGGACGAGT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAaacaggacgagtAGATCGAGACCCGACGC chr10:6156782-Alternative-T;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative T caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CTATCAAGCCGC CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAActatcaagccgcAGATCGAGACCCGACGC chr10:6156782-Alternative-T;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Variant A caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga CGGAATGACTAT CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggAtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAcggaatgactatAGATCGAGACCCGACGC chr10:6156782-Variant-A;Patient-109 chr10:6156782-GA DeNovo Patient-109 intronic RBM17 NA 3.84e-05 -0.35 0.26 -5.49 RBM17 25832 Alternative T caaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgaga AGATAGGCTCTA CGACGCGGTCTCTCTCTcaaaatggaatggatgggcctgttggggattagcagaagtgcttaggtggTtggaattacagagggctaggaaagctagacagagctagtcaaaatgagaAGAGGGAGACGGACGTCTCAATAAagataggctctaAGATCGAGACCCGACGC chr10:6156782-Alternative-T;Patient-109 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Reference C aagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc CTGAGAGATCAA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAActgagagatcaaAGATCGAGACCCGACGC chr10:61745777-Reference-C;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Variant T aagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GACCTTGATGAT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgaccttgatgatAGATCGAGACCCGACGC chr10:61745777-Variant-T;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative G aagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc CGAATCGAAGAA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAcgaatcgaagaaAGATCGAGACCCGACGC chr10:61745777-Alternative-G;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Variant T aagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc CAACAGGTACTT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAcaacaggtacttAGATCGAGACCCGACGC chr10:61745777-Variant-T;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative A aagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GGTGTTCACCGA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAggtgttcaccgaAGATCGAGACCCGACGC chr10:61745777-Alternative-A;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Variant T aagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc AACGCAATGGAA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAaacgcaatggaaAGATCGAGACCCGACGC chr10:61745777-Variant-T;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Variant T aagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GTAATGCCACAT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgtaatgccacatAGATCGAGACCCGACGC chr10:61745777-Variant-T;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative G aagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GCAGTAGTCACT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgcagtagtcactAGATCGAGACCCGACGC chr10:61745777-Alternative-G;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative A aagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GAGTATGAAGCT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgagtatgaagctAGATCGAGACCCGACGC chr10:61745777-Alternative-A;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Variant T aagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc CATAGTACGCGT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctTtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAcatagtacgcgtAGATCGAGACCCGACGC chr10:61745777-Variant-T;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Reference C aagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GATGCGGTTAAT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgatgcggttaatAGATCGAGACCCGACGC chr10:61745777-Reference-C;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative G aagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc CTTGAGCCGAAG CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAActtgagccgaagAGATCGAGACCCGACGC chr10:61745777-Alternative-G;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative A aagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc ACAACGCCTGTT CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAacaacgcctgttAGATCGAGACCCGACGC chr10:61745777-Alternative-A;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative G aagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GTTGTAATTCGG CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgttgtaattcggAGATCGAGACCCGACGC chr10:61745777-Alternative-G;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Reference C aagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc ACACGTGTTGCA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAacacgtgttgcaAGATCGAGACCCGACGC chr10:61745777-Reference-C;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative A aagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc GAGTTATGGTCG CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAgagttatggtcgAGATCGAGACCCGACGC chr10:61745777-Alternative-A;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Reference C aagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc AACCGGTTAGCG CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAaaccggttagcgAGATCGAGACCCGACGC chr10:61745777-Reference-C;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative G aagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc AAGACGGCTATA CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctGtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAaagacggctataAGATCGAGACCCGACGC chr10:61745777-Alternative-G;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Alternative A aagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc AGAACGCCGTAC CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctAtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAagaacgccgtacAGATCGAGACCCGACGC chr10:61745777-Alternative-A;Patient-34 chr10:61745777-CT DeNovo Patient-34 intergenic NA 0.000513 -0.25 0.53 -2.9 CCDC6 79362 Reference C aagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggcc ACAGCGAATCGC CGACGCGGTCTCTCTCTaagtacctaacttctaagaactcaaattacttcagaattttcttttctctCtgtctccatctacctttcagatctgcttatttgtgcattttggttggccAGAGGGAGACGGACGTCTCAATAAacagcgaatcgcAGATCGAGACCCGACGC chr10:61745777-Reference-C;Patient-34 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Variant C aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc AGTATCGTCAGT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAagtatcgtcagtAGATCGAGACCCGACGC chr10:6178459-Variant-C;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Variant C aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CGGAATTACCAT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcggaattaccatAGATCGAGACCCGACGC chr10:6178459-Variant-C;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative T aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc AGCAACGCTTAT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAagcaacgcttatAGATCGAGACCCGACGC chr10:6178459-Alternative-T;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative T aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc ACCTGACGAACC CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAacctgacgaaccAGATCGAGACCCGACGC chr10:6178459-Alternative-T;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative T aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CACGCCTACATT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcacgcctacattAGATCGAGACCCGACGC chr10:6178459-Alternative-T;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative G aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CTCACGGTCTAC CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAActcacggtctacAGATCGAGACCCGACGC chr10:6178459-Alternative-G;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative G aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CTAGTATCCAAG CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAActagtatccaagAGATCGAGACCCGACGC chr10:6178459-Alternative-G;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Reference A aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc GTTGTTCAATCG CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAgttgttcaatcgAGATCGAGACCCGACGC chr10:6178459-Reference-A;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Reference A aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc AGCTCCGTGCTT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAagctccgtgcttAGATCGAGACCCGACGC chr10:6178459-Reference-A;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative T aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc ACTAGCGAGTAA CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAactagcgagtaaAGATCGAGACCCGACGC chr10:6178459-Alternative-T;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative G aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CGACACAGACGA CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcgacacagacgaAGATCGAGACCCGACGC chr10:6178459-Alternative-G;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Reference A aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CGCGATAGACGA CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcgcgatagacgaAGATCGAGACCCGACGC chr10:6178459-Reference-A;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Variant C aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc ACTTCTGTACGT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAacttctgtacgtAGATCGAGACCCGACGC chr10:6178459-Variant-C;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative G aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CAGATCAATCCT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcagatcaatcctAGATCGAGACCCGACGC chr10:6178459-Alternative-G;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Reference A aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc GGAACCTTACTT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAggaaccttacttAGATCGAGACCCGACGC chr10:6178459-Reference-A;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative T aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CTATGTGAGCGA CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaTtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAActatgtgagcgaAGATCGAGACCCGACGC chr10:6178459-Alternative-T;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Variant C aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc CGTTCTTCGTCC CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAcgttcttcgtccAGATCGAGACCCGACGC chr10:6178459-Variant-C;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Alternative G aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc AATAACGGCCAT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaGtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAaataacggccatAGATCGAGACCCGACGC chr10:6178459-Alternative-G;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Reference A aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc ACCACAACGGAC CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaAtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAaccacaacggacAGATCGAGACCCGACGC chr10:6178459-Reference-A;Patient-4 chr10:6178459-AC DeNovo Patient-4 intergenic NA 0.000513 0.48 9.24 0.9 PFKFB3 8383 Variant C aaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgcc AGTGATGACGCT CGACGCGGTCTCTCTCTaaatggggcatctggtttagatgagctgtaagtttcattccagttctgaaCtgactaattcttccctcattgtgttctttgactttgaacaactcatgccAGAGGGAGACGGACGTCTCAATAAagtgatgacgctAGATCGAGACCCGACGC chr10:6178459-Variant-C;Patient-4 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative C tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg AAGTGTTCGAGA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAaagtgttcgagaAGATCGAGACCCGACGC chr10:6209030-Alternative-C;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative C tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CATCGAATCAGT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcatcgaatcagtAGATCGAGACCCGACGC chr10:6209030-Alternative-C;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative C tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CGCGTACGAGAT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcgcgtacgagatAGATCGAGACCCGACGC chr10:6209030-Alternative-C;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative A tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GGCCGATTCGAT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAggccgattcgatAGATCGAGACCCGACGC chr10:6209030-Alternative-A;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative A tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg AAGCGCTATATC CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAaagcgctatatcAGATCGAGACCCGACGC chr10:6209030-Alternative-A;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative C tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GCAGTAGGATAT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgcagtaggatatAGATCGAGACCCGACGC chr10:6209030-Alternative-C;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative A tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg ATCGCGAATTGT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAatcgcgaattgtAGATCGAGACCCGACGC chr10:6209030-Alternative-A;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative C tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GTAAGCATACGA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccCcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgtaagcatacgaAGATCGAGACCCGACGC chr10:6209030-Alternative-C;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Reference G tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GTTAATTCGGCA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgttaattcggcaAGATCGAGACCCGACGC chr10:6209030-Reference-G;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Reference G tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CAGCGTCAATCA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcagcgtcaatcaAGATCGAGACCCGACGC chr10:6209030-Reference-G;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Reference G tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CGAGCGATTAAG CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcgagcgattaagAGATCGAGACCCGACGC chr10:6209030-Reference-G;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Variant T tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GAATATCGCCTT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgaatatcgccttAGATCGAGACCCGACGC chr10:6209030-Variant-T;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Variant T tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CGTGGCCGATAT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcgtggccgatatAGATCGAGACCCGACGC chr10:6209030-Variant-T;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Reference G tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GTTCCTAAGAGT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgttcctaagagtAGATCGAGACCCGACGC chr10:6209030-Reference-G;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative A tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg CACGGAACCTGA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAcacggaacctgaAGATCGAGACCCGACGC chr10:6209030-Alternative-A;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Variant T tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GAGTTAATGCGT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgagttaatgcgtAGATCGAGACCCGACGC chr10:6209030-Variant-T;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Variant T tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg AACCGTAGTACA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAaaccgtagtacaAGATCGAGACCCGACGC chr10:6209030-Variant-T;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Alternative A tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg AATAGGCGGATA CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccAcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAaataggcggataAGATCGAGACCCGACGC chr10:6209030-Alternative-A;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Variant T tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg AGAGTTATGTGG CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccTcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAagagttatgtggAGATCGAGACCCGACGC chr10:6209030-Variant-T;Patient-68 chr10:6209030-GT Inherited Patient-68 intronic PFKFB3 6.4e-05 9.9e-05 -0.17 0.85 0.52 PFKFB3 22186 Reference G tggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctg GTCAACACCTAT CGACGCGGTCTCTCTCTtggagtttctccatgttggtcaggaactccccatctcaggtgatgggcccGcctcggcctcccaaagtgctgggattacaggcgtgagccaccttgcctgAGAGGGAGACGGACGTCTCAATAAgtcaacacctatAGATCGAGACCCGACGC chr10:6209030-Reference-G;Patient-68 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Variant A caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CAGTAGCGTGCT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcagtagcgtgctAGATCGAGACCCGACGC chr10:62506202-Variant-A;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Variant A caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat ACCGATATTGGT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAaccgatattggtAGATCGAGACCCGACGC chr10:62506202-Variant-A;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative C caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CGTTGACCGAGT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcgttgaccgagtAGATCGAGACCCGACGC chr10:62506202-Alternative-C;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Variant A caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat ACGATTAGACGA CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAacgattagacgaAGATCGAGACCCGACGC chr10:62506202-Variant-A;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Variant A caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat GCGTGCGATTCT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAgcgtgcgattctAGATCGAGACCCGACGC chr10:62506202-Variant-A;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative C caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat ACCGGTTCGAAG CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAaccggttcgaagAGATCGAGACCCGACGC chr10:62506202-Alternative-C;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative C caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CGATCGTGTAAG CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcgatcgtgtaagAGATCGAGACCCGACGC chr10:62506202-Alternative-C;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative C caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CGAGTGGTTACG CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcgagtggttacgAGATCGAGACCCGACGC chr10:62506202-Alternative-C;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative C caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CTCAATGTGCTT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgCtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAActcaatgtgcttAGATCGAGACCCGACGC chr10:62506202-Alternative-C;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Variant A caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat GTACTAACGAGT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgAtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAgtactaacgagtAGATCGAGACCCGACGC chr10:62506202-Variant-A;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative T caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat AAGAACGATCCA CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAaagaacgatccaAGATCGAGACCCGACGC chr10:62506202-Alternative-T;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative T caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat GGCTCTGTATGG CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAggctctgtatggAGATCGAGACCCGACGC chr10:62506202-Alternative-T;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Reference G caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat ACATGACGCAGT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAacatgacgcagtAGATCGAGACCCGACGC chr10:62506202-Reference-G;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative T caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat GCAATGGCGCTT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAgcaatggcgcttAGATCGAGACCCGACGC chr10:62506202-Alternative-T;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Reference G caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat AGCGCTCAAGGT CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAagcgctcaaggtAGATCGAGACCCGACGC chr10:62506202-Reference-G;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative T caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CACAATTATCGC CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcacaattatcgcAGATCGAGACCCGACGC chr10:62506202-Alternative-T;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Reference G caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat GTAGGATGAATC CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAgtaggatgaatcAGATCGAGACCCGACGC chr10:62506202-Reference-G;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Reference G caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CAGATATCGGAA CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAcagatatcggaaAGATCGAGACCCGACGC chr10:62506202-Reference-G;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Alternative T caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat ACACGTGGAATA CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgTtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAAacacgtggaataAGATCGAGACCCGACGC chr10:62506202-Alternative-T;Patient-54 chr10:62506202-GA DeNovo Patient-54 intergenic 0.000127 0.00103 0.05 3.5 1.33 ANK3 12917 Reference G caaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgat CTCATACGCGAG CGACGCGGTCTCTCTCTcaaagaacatccaggaaggttatagacacaggctttgtttggaggtgctgGtgggtccttgtggccaacaggacagatagtagagtcagaaatgaatgatAGAGGGAGACGGACGTCTCAATAActcatacgcgagAGATCGAGACCCGACGC chr10:62506202-Reference-G;Patient-54 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Reference C ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GCATCCGGCATA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgcatccggcataAGATCGAGACCCGACGC chr10:62744660-Reference-C;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Reference C ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GACCTAACGATT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgacctaacgattAGATCGAGACCCGACGC chr10:62744660-Reference-C;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative G ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GGATCGCGGATA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAggatcgcggataAGATCGAGACCCGACGC chr10:62744660-Alternative-G;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Reference C ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GAAGTTCCAATC CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgaagttccaatcAGATCGAGACCCGACGC chr10:62744660-Reference-C;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Variant T ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CATAGCGCTGAC CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAcatagcgctgacAGATCGAGACCCGACGC chr10:62744660-Variant-T;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative A ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GCAGTATCGATT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgcagtatcgattAGATCGAGACCCGACGC chr10:62744660-Alternative-A;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Variant T ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GCAGTATATGAG CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgcagtatatgagAGATCGAGACCCGACGC chr10:62744660-Variant-T;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Reference C ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggt AGGCTGATGATA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAaggctgatgataAGATCGAGACCCGACGC chr10:62744660-Reference-C;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative A ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CGCCAATGTCGA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAcgccaatgtcgaAGATCGAGACCCGACGC chr10:62744660-Alternative-A;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative G ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CTGTTAATGCGT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAActgttaatgcgtAGATCGAGACCCGACGC chr10:62744660-Alternative-G;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative A ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CTAATCCGATGT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAActaatccgatgtAGATCGAGACCCGACGC chr10:62744660-Alternative-A;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Variant T ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GATCAAGTTGAC CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgatcaagttgacAGATCGAGACCCGACGC chr10:62744660-Variant-T;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Reference C ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggt AGGCCGTCTTGT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatCcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAaggccgtcttgtAGATCGAGACCCGACGC chr10:62744660-Reference-C;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative G ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GGCTCTGACATA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAggctctgacataAGATCGAGACCCGACGC chr10:62744660-Alternative-G;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Variant T ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CTACAACAGACT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAActacaacagactAGATCGAGACCCGACGC chr10:62744660-Variant-T;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative A ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GTGTCCATAGCG CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAgtgtccatagcgAGATCGAGACCCGACGC chr10:62744660-Alternative-A;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative G ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggt AATCGTCAAGCT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAaatcgtcaagctAGATCGAGACCCGACGC chr10:62744660-Alternative-G;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative G ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggt ACGGCGGTTCAT CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatGcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAacggcggttcatAGATCGAGACCCGACGC chr10:62744660-Alternative-G;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Variant T ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggt CGCATTATGTGA CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatTcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAcgcattatgtgaAGATCGAGACCCGACGC chr10:62744660-Variant-T;Patient-91 chr10:62744660-CT Inherited Patient-91 intronic RHOBTB1 NA 0.00016 1.72 16.92 2.52 RHOBTB1 16537 Alternative A ataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggt GGACACATACGG CGACGCGGTCTCTCTCTataaacaattttcaaggaacctcaggcactttacaagttcctacatacatAcaatctatatgctaataacaaaatgttcatatgatttattataacaggtAGAGGGAGACGGACGTCTCAATAAggacacatacggAGATCGAGACCCGACGC chr10:62744660-Alternative-A;Patient-91 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative C ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact AGCCGCTTACAC CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAagccgcttacacAGATCGAGACCCGACGC chr10:62809363-Alternative-C;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative C ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact AGCCGGTTGGTT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAagccggttggttAGATCGAGACCCGACGC chr10:62809363-Alternative-C;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Variant A ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact AGCAGTACCAGT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAagcagtaccagtAGATCGAGACCCGACGC chr10:62809363-Variant-A;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative C ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact ACGCGAATCAGG CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAacgcgaatcaggAGATCGAGACCCGACGC chr10:62809363-Alternative-C;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative C ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact ACGCGCGTACAT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAacgcgcgtacatAGATCGAGACCCGACGC chr10:62809363-Alternative-C;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Variant A ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CTTAACGTACAG CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAActtaacgtacagAGATCGAGACCCGACGC chr10:62809363-Variant-A;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative C ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact ATCACGCTCTAT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcCcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAatcacgctctatAGATCGAGACCCGACGC chr10:62809363-Alternative-C;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative T ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact AAGCAGCGTCGA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAaagcagcgtcgaAGATCGAGACCCGACGC chr10:62809363-Alternative-T;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Reference G ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact ATATGCGATGCA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAatatgcgatgcaAGATCGAGACCCGACGC chr10:62809363-Reference-G;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative T ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact GAAGATAGGCGG CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAgaagataggcggAGATCGAGACCCGACGC chr10:62809363-Alternative-T;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative T ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CTTGATTCGCTA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAActtgattcgctaAGATCGAGACCCGACGC chr10:62809363-Alternative-T;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Reference G ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact AAGCGTGTAACA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAaagcgtgtaacaAGATCGAGACCCGACGC chr10:62809363-Reference-G;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Variant A ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact GGCCGAAGTAAG CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAggccgaagtaagAGATCGAGACCCGACGC chr10:62809363-Variant-A;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Reference G ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CTTGGACCATAA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAActtggaccataaAGATCGAGACCCGACGC chr10:62809363-Reference-G;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Reference G ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact GGCGCTATACCA CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAggcgctataccaAGATCGAGACCCGACGC chr10:62809363-Reference-G;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Reference G ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact GGATGGTCGAGT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcGcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAggatggtcgagtAGATCGAGACCCGACGC chr10:62809363-Reference-G;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Variant A ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CTTGTTCAAGCT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAActtgttcaagctAGATCGAGACCCGACGC chr10:62809363-Variant-A;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative T ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CGTACACCAACC CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAcgtacaccaaccAGATCGAGACCCGACGC chr10:62809363-Alternative-T;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Alternative T ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact CGGTAGTATCAT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcTcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAcggtagtatcatAGATCGAGACCCGACGC chr10:62809363-Alternative-T;Patient-57 chr10:62809363-GA DeNovo Patient-57 intergenic 0.000701 0.00359 -0.16 0.94 0.39 RHOBTB1 48164 Variant A ttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgact GGTGCGATAGGT CGACGCGGTCTCTCTCTttccagcccagccttgttacttctaggtttgaatttaccagttccatggcAcaggtccaggcagcatttggcatttgatgcagggtactgtaacatgactAGAGGGAGACGGACGTCTCAATAAggtgcgataggtAGATCGAGACCCGACGC chr10:62809363-Variant-A;Patient-57 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Variant C ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GCATGAGAATCA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAgcatgagaatcaAGATCGAGACCCGACGC chr10:65128501-Variant-C;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Variant C ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CAATTGCGATGT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAcaattgcgatgtAGATCGAGACCCGACGC chr10:65128501-Variant-C;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Variant C ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CATATAGTGCAC CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAcatatagtgcacAGATCGAGACCCGACGC chr10:65128501-Variant-C;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Variant C ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CGCAGATAGGAT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAcgcagataggatAGATCGAGACCCGACGC chr10:65128501-Variant-C;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Reference T ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GGTACTTAGTGT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAggtacttagtgtAGATCGAGACCCGACGC chr10:65128501-Reference-T;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative G ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CTCTACGAACGC CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAActctacgaacgcAGATCGAGACCCGACGC chr10:65128501-Alternative-G;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Reference T ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GAGTTGACTGAT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAgagttgactgatAGATCGAGACCCGACGC chr10:65128501-Reference-T;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Reference T ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg ATAGGAGTCTGT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAataggagtctgtAGATCGAGACCCGACGC chr10:65128501-Reference-T;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative G ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg AGTTCGACACCA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAagttcgacaccaAGATCGAGACCCGACGC chr10:65128501-Alternative-G;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative A ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg ACACTAGTTGAG CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAacactagttgagAGATCGAGACCCGACGC chr10:65128501-Alternative-A;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Reference T ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CGAAGTTCGTTA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAcgaagttcgttaAGATCGAGACCCGACGC chr10:65128501-Reference-T;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative G ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GGTGCGATGGAA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAggtgcgatggaaAGATCGAGACCCGACGC chr10:65128501-Alternative-G;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative G ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GTTGGCGTTCCA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAgttggcgttccaAGATCGAGACCCGACGC chr10:65128501-Alternative-G;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative G ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg ACCGAATTACCA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgGagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAaccgaattaccaAGATCGAGACCCGACGC chr10:65128501-Alternative-G;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Variant C ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg CTGCTACCTGAC CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgCagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAActgctacctgacAGATCGAGACCCGACGC chr10:65128501-Variant-C;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Reference T ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg ACCGAACCTCAA CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgTagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAaccgaacctcaaAGATCGAGACCCGACGC chr10:65128501-Reference-T;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative A ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg GAGGTTCGGCTT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAgaggttcggcttAGATCGAGACCCGACGC chr10:65128501-Alternative-A;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative A ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg ACGAGTATGGAT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAacgagtatggatAGATCGAGACCCGACGC chr10:65128501-Alternative-A;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative A ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg AGGTTGCCATAT CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAaggttgccatatAGATCGAGACCCGACGC chr10:65128501-Alternative-A;Patient-90 chr10:65128501-TC DeNovo Patient-90 intronic JMJD1C NA 4.95e-05 -0.32 0.31 -0.3 JMJD1C 97139 Alternative A ttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcg AACAACTCAAGG CGACGCGGTCTCTCTCTttttgttttgttttgagacagagtctcgctcagctgccctggccggagtgAagtctcatgatctcagctcactgcaacctccacctcccaggttcaagcgAGAGGGAGACGGACGTCTCAATAAaacaactcaaggAGATCGAGACCCGACGC chr10:65128501-Alternative-A;Patient-90 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative C cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GAATCTCCGCAT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgaatctccgcatAGATCGAGACCCGACGC chr10:6608472-Alternative-C;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative C cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GTAGCGATGCAG CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgtagcgatgcagAGATCGAGACCCGACGC chr10:6608472-Alternative-C;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative C cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat CACGACACTTAT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAcacgacacttatAGATCGAGACCCGACGC chr10:6608472-Alternative-C;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative C cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GGACTCTAACGA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAggactctaacgaAGATCGAGACCCGACGC chr10:6608472-Alternative-C;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative C cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat AGGTGGATTACA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctCggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAaggtggattacaAGATCGAGACCCGACGC chr10:6608472-Alternative-C;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Variant A cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GCCGAACGATGT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgccgaacgatgtAGATCGAGACCCGACGC chr10:6608472-Variant-A;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Variant A cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat CGTCTAATTCCA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAcgtctaattccaAGATCGAGACCCGACGC chr10:6608472-Variant-A;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Variant A cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat ACGTGCTACATT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAacgtgctacattAGATCGAGACCCGACGC chr10:6608472-Variant-A;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Variant A cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GACTGACCTAAG CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgactgacctaagAGATCGAGACCCGACGC chr10:6608472-Variant-A;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Variant A cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GGATGCGTAATT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctAggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAggatgcgtaattAGATCGAGACCCGACGC chr10:6608472-Variant-A;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative T cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GATGTCTGATGT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgatgtctgatgtAGATCGAGACCCGACGC chr10:6608472-Alternative-T;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative T cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat AAGTGCTATCGA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAaagtgctatcgaAGATCGAGACCCGACGC chr10:6608472-Alternative-T;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative T cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat CTCGGTCATATA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAActcggtcatataAGATCGAGACCCGACGC chr10:6608472-Alternative-T;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative T cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GTACTCGCCATT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgtactcgccattAGATCGAGACCCGACGC chr10:6608472-Alternative-T;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Alternative T cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat AATCTCCGTAGA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctTggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAaatctccgtagaAGATCGAGACCCGACGC chr10:6608472-Alternative-T;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Reference G cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat AACGACAATGCT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAaacgacaatgctAGATCGAGACCCGACGC chr10:6608472-Reference-G;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Reference G cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat ATAGCAGTACGA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAatagcagtacgaAGATCGAGACCCGACGC chr10:6608472-Reference-G;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Reference G cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat GTCGATAGATGA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAgtcgatagatgaAGATCGAGACCCGACGC chr10:6608472-Reference-G;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Reference G cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat CTGAATGCGCCT CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAActgaatgcgcctAGATCGAGACCCGACGC chr10:6608472-Reference-G;Patient-30 chr10:6608472-GA Inherited Patient-30 intronic PRKCQ 0.000159 0.00016 NA NA NA PRKCQ 13781 Reference G cctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcat ATAGCTTGCGAA CGACGCGGTCTCTCTCTcctagacatccccctaatgcactcaaccttgtctcccaattcccacttctGggatttttcagtccgacttcactgttgggtgggtctggaaggtgagcatAGAGGGAGACGGACGTCTCAATAAatagcttgcgaaAGATCGAGACCCGACGC chr10:6608472-Reference-G;Patient-30 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Variant C ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GATTCCTCGCGT CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgattcctcgcgtAGATCGAGACCCGACGC chr10:6638416-Variant-C;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Variant C ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GGTTGACATCAT CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAggttgacatcatAGATCGAGACCCGACGC chr10:6638416-Variant-C;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Variant C ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GTCAAGCCGTGA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgtcaagccgtgaAGATCGAGACCCGACGC chr10:6638416-Variant-C;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Variant C ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtc ACGCGATAATCA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAacgcgataatcaAGATCGAGACCCGACGC chr10:6638416-Variant-C;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Variant C ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CAACCTTAACAC CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaCttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcaaccttaacacAGATCGAGACCCGACGC chr10:6638416-Variant-C;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Reference A ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GCGTTACCACCA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgcgttaccaccaAGATCGAGACCCGACGC chr10:6638416-Reference-A;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Reference A ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CAAGTTCTGCGG CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcaagttctgcggAGATCGAGACCCGACGC chr10:6638416-Reference-A;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Reference A ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtc ACGCGTATGACC CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAacgcgtatgaccAGATCGAGACCCGACGC chr10:6638416-Reference-A;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Reference A ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CGTATGCGGAAC CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcgtatgcggaacAGATCGAGACCCGACGC chr10:6638416-Reference-A;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative T ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GTTAGCCGCTGA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgttagccgctgaAGATCGAGACCCGACGC chr10:6638416-Alternative-T;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative T ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CGCGGAGCTAAT CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcgcggagctaatAGATCGAGACCCGACGC chr10:6638416-Alternative-T;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Reference A ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CAGATTGTGACT CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaAttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcagattgtgactAGATCGAGACCCGACGC chr10:6638416-Reference-A;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative T ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtc AGATGTGTTGAG CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAagatgtgttgagAGATCGAGACCCGACGC chr10:6638416-Alternative-T;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative T ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtc AGGACGACTACG CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAaggacgactacgAGATCGAGACCCGACGC chr10:6638416-Alternative-T;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative T ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtc AATGCGAAGCTA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaTttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAaatgcgaagctaAGATCGAGACCCGACGC chr10:6638416-Alternative-T;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative G ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtc AACCGTGCACAC CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAaaccgtgcacacAGATCGAGACCCGACGC chr10:6638416-Alternative-G;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative G ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtc AGCTCTATACGC CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAagctctatacgcAGATCGAGACCCGACGC chr10:6638416-Alternative-G;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative G ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GATTCACGACAT CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgattcacgacatAGATCGAGACCCGACGC chr10:6638416-Alternative-G;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative G ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtc GAATTAGCGCTA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAgaattagcgctaAGATCGAGACCCGACGC chr10:6638416-Alternative-G;Patient-55 chr10:6638416-AC Inherited Patient-55 intergenic 0.000573 0.00205 0.29 7.06 3.04 PRKCQ 16161 Alternative G ttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtc CAACGAGGCGAA CGACGCGGTCTCTCTCTttttttaaatgagaagctagaaagcagatatctcaagcgatttaagtagaGttatgtgaaacaaataaataactttcagtataccatttctttttaagtcAGAGGGAGACGGACGTCTCAATAAcaacgaggcgaaAGATCGAGACCCGACGC chr10:6638416-Alternative-G;Patient-55 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Reference G actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GCCACGCTTAAG CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgccacgcttaagAGATCGAGACCCGACGC chr10:69398041-Reference-G;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative T actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca CTATCTATGCCA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAActatctatgccaAGATCGAGACCCGACGC chr10:69398041-Alternative-T;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Variant A actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca AGAGTCCGACGA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAagagtccgacgaAGATCGAGACCCGACGC chr10:69398041-Variant-A;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative C actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca AGTAACGGTCGG CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAagtaacggtcggAGATCGAGACCCGACGC chr10:69398041-Alternative-C;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Variant A actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca ATTGCTTGGTGT CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAattgcttggtgtAGATCGAGACCCGACGC chr10:69398041-Variant-A;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative C actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GATCGCCGTGTT CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgatcgccgtgttAGATCGAGACCCGACGC chr10:69398041-Alternative-C;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Reference G actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca AGCCGATGCACA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAagccgatgcacaAGATCGAGACCCGACGC chr10:69398041-Reference-G;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative T actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GAGCTACTGCGT CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgagctactgcgtAGATCGAGACCCGACGC chr10:69398041-Alternative-T;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative T actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca CGCGAGCATGAA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAcgcgagcatgaaAGATCGAGACCCGACGC chr10:69398041-Alternative-T;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Variant A actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GCGACTAACTTA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgcgactaacttaAGATCGAGACCCGACGC chr10:69398041-Variant-A;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Reference G actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca CGCGCGTAGTAA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAcgcgcgtagtaaAGATCGAGACCCGACGC chr10:69398041-Reference-G;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative T actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GCGAGTTCAACC CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgcgagttcaaccAGATCGAGACCCGACGC chr10:69398041-Alternative-T;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Variant A actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca CGGACAAGATAT CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAcggacaagatatAGATCGAGACCCGACGC chr10:69398041-Variant-A;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Reference G actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GCACGGTATCGA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgcacggtatcgaAGATCGAGACCCGACGC chr10:69398041-Reference-G;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative T actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca ACATAGAGCATC CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgTtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAacatagagcatcAGATCGAGACCCGACGC chr10:69398041-Alternative-T;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative C actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca ATACTTACCGTC CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAatacttaccgtcAGATCGAGACCCGACGC chr10:69398041-Alternative-C;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Variant A actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca ACAGAGGTGTCG CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgAtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAacagaggtgtcgAGATCGAGACCCGACGC chr10:69398041-Variant-A;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Reference G actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GGTTGGATCTAC CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgGtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAggttggatctacAGATCGAGACCCGACGC chr10:69398041-Reference-G;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative C actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca GACGCAACGCTA CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAgacgcaacgctaAGATCGAGACCCGACGC chr10:69398041-Alternative-C;Patient-99 chr10:69398041-GA DeNovo Patient-99 intronic CTNNA3 NA 4.95e-05 -0.02 2.34 0 CTNNA3 57907 Alternative C actttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcaccca CGAATAACTGCT CGACGCGGTCTCTCTCTactttaaaccaacaaagatcaaaacagacaaagaaggccattacataatgCtaaagggatcaattcaacaagaagagctttctaaatatatatgcacccaAGAGGGAGACGGACGTCTCAATAAcgaataactgctAGATCGAGACCCGACGC chr10:69398041-Alternative-C;Patient-99 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Variant A tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CTAGCTACACGA CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAActagctacacgaAGATCGAGACCCGACGC chr10:69431588-Variant-A;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Reference G tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CATCGTTAGGTT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAcatcgttaggttAGATCGAGACCCGACGC chr10:69431588-Reference-G;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Reference G tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CGACAGTTACGC CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAcgacagttacgcAGATCGAGACCCGACGC chr10:69431588-Reference-G;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Reference G tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GTTGTGCGATGC CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgttgtgcgatgcAGATCGAGACCCGACGC chr10:69431588-Reference-G;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Variant A tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa ATCGGTTGGTAT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAatcggttggtatAGATCGAGACCCGACGC chr10:69431588-Variant-A;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative T tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa ACTTCTTGTCGA CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAacttcttgtcgaAGATCGAGACCCGACGC chr10:69431588-Alternative-T;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Variant A tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GCAGCTGGACTT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgcagctggacttAGATCGAGACCCGACGC chr10:69431588-Variant-A;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative T tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa ATAGTGGTTGAG CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAatagtggttgagAGATCGAGACCCGACGC chr10:69431588-Alternative-T;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative T tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GGCCATCTATGG CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAggccatctatggAGATCGAGACCCGACGC chr10:69431588-Alternative-T;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Variant A tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa AGTCAACGGTCA CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAagtcaacggtcaAGATCGAGACCCGACGC chr10:69431588-Variant-A;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative C tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GCACGCGTACTT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgcacgcgtacttAGATCGAGACCCGACGC chr10:69431588-Alternative-C;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative T tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CAGGACGAAGCT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAcaggacgaagctAGATCGAGACCCGACGC chr10:69431588-Alternative-T;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative C tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CGTGCCGTGATA CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAcgtgccgtgataAGATCGAGACCCGACGC chr10:69431588-Alternative-C;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Variant A tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa CGACACACAACC CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatAtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAcgacacacaaccAGATCGAGACCCGACGC chr10:69431588-Variant-A;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative C tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GCAGACGCTATC CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgcagacgctatcAGATCGAGACCCGACGC chr10:69431588-Alternative-C;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative T tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa ACTTCACGGTTC CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatTtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAacttcacggttcAGATCGAGACCCGACGC chr10:69431588-Alternative-T;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative C tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GACATACCGCCT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgacataccgcctAGATCGAGACCCGACGC chr10:69431588-Alternative-C;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Alternative C tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GGCAAGTTCATT CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatCtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAggcaagttcattAGATCGAGACCCGACGC chr10:69431588-Alternative-C;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Reference G tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa GTGATATTGCGA CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAgtgatattgcgaAGATCGAGACCCGACGC chr10:69431588-Reference-G;Patient-17 chr10:69431588-GA Inherited Patient-17 intronic CTNNA3 NA 0.000319489 0.21 5.99 0 CTNNA3 24360 Reference G tccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaa ATCTTACCGGCG CGACGCGGTCTCTCTCTtccaagtctttgctattgttaatagtgccacaataaacatacgtgtgcatGtgtctttatagcagcatgatttataatcctttgggtatatacccagtaaAGAGGGAGACGGACGTCTCAATAAatcttaccggcgAGATCGAGACCCGACGC chr10:69431588-Reference-G;Patient-17 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative G atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GGTGGACGTACA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAggtggacgtacaAGATCGAGACCCGACGC chr10:69440435-Alternative-G;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Variant T atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CTCGCGAGCATA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAActcgcgagcataAGATCGAGACCCGACGC chr10:69440435-Variant-T;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative C atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CGCTATTCTCGG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAcgctattctcggAGATCGAGACCCGACGC chr10:69440435-Alternative-C;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative G atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GTACGTTCGTGG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgtacgttcgtggAGATCGAGACCCGACGC chr10:69440435-Alternative-G;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative G atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataact ACGATAGTCACG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAacgatagtcacgAGATCGAGACCCGACGC chr10:69440435-Alternative-G;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Variant T atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataact AAGTTCTGACGT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAaagttctgacgtAGATCGAGACCCGACGC chr10:69440435-Variant-T;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative G atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GAGTACCTTCTT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgagtaccttcttAGATCGAGACCCGACGC chr10:69440435-Alternative-G;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Variant T atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataact ACTCATCGTAGG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAactcatcgtaggAGATCGAGACCCGACGC chr10:69440435-Variant-T;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative C atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GTTCATCGCATT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgttcatcgcattAGATCGAGACCCGACGC chr10:69440435-Alternative-C;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative G atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GAGGTTATGACA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaGaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgaggttatgacaAGATCGAGACCCGACGC chr10:69440435-Alternative-G;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative C atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GCGTTGAACGCT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgcgttgaacgctAGATCGAGACCCGACGC chr10:69440435-Alternative-C;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Variant T atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GCGGCAACTAAG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgcggcaactaagAGATCGAGACCCGACGC chr10:69440435-Variant-T;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative C atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GTGTTCCGCCTA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgtgttccgcctaAGATCGAGACCCGACGC chr10:69440435-Alternative-C;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Variant T atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CGCAATACATTC CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaTaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAcgcaatacattcAGATCGAGACCCGACGC chr10:69440435-Variant-T;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Reference A atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataact GCAACAACGTGG CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAgcaacaacgtggAGATCGAGACCCGACGC chr10:69440435-Reference-A;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Alternative C atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataact ACTTCGGCGGAT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaCaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAacttcggcggatAGATCGAGACCCGACGC chr10:69440435-Alternative-C;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Reference A atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CTAGTTCCACTA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAActagttccactaAGATCGAGACCCGACGC chr10:69440435-Reference-A;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Reference A atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataact AGCTAGGACGCA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAagctaggacgcaAGATCGAGACCCGACGC chr10:69440435-Reference-A;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Reference A atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CTGAGTCGTCGA CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAActgagtcgtcgaAGATCGAGACCCGACGC chr10:69440435-Reference-A;Patient-61 chr10:69440435-AT Inherited Patient-61 intronic CTNNA3 0.00035 0.000639 0.07 3.7 0.62 CTNNA3 15513 Reference A atgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataact CGTCGGTCCATT CGACGCGGTCTCTCTCTatgaaactcttgttgcttaaaccagctaaagtagactttagttataatcaAaaaccctggctaaggtaccctttactaaaataaatatgcatatataactAGAGGGAGACGGACGTCTCAATAAcgtcggtccattAGATCGAGACCCGACGC chr10:69440435-Reference-A;Patient-61 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Reference C agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagct ACAGCTTCGGAC CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAacagcttcggacAGATCGAGACCCGACGC chr10:69503226-Reference-C;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative A agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagct GGAACGTATGTT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAggaacgtatgttAGATCGAGACCCGACGC chr10:69503226-Alternative-A;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Reference C agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagct CAGCATAATCGC CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAcagcataatcgcAGATCGAGACCCGACGC chr10:69503226-Reference-C;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative G agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagct GGCTACCTACAG CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAggctacctacagAGATCGAGACCCGACGC chr10:69503226-Alternative-G;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative G agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagct AACACGGATGTT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAaacacggatgttAGATCGAGACCCGACGC chr10:69503226-Alternative-G;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Reference C agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagct AGTCTCGGAATT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAagtctcggaattAGATCGAGACCCGACGC chr10:69503226-Reference-C;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Reference C agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagct GAGTGTATTCGT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAgagtgtattcgtAGATCGAGACCCGACGC chr10:69503226-Reference-C;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Reference C agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagct CGTCGCTTGCAT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaCtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAcgtcgcttgcatAGATCGAGACCCGACGC chr10:69503226-Reference-C;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative G agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagct ACCTAGGTTCAA CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAacctaggttcaaAGATCGAGACCCGACGC chr10:69503226-Alternative-G;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative G agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagct GGAAGTTCGAGA CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAggaagttcgagaAGATCGAGACCCGACGC chr10:69503226-Alternative-G;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative G agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagct ACGGCTTCGTAC CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaGtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAacggcttcgtacAGATCGAGACCCGACGC chr10:69503226-Alternative-G;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative A agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagct CTAGTACCAAGA CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAActagtaccaagaAGATCGAGACCCGACGC chr10:69503226-Alternative-A;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Variant T agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagct AGACGATGTTCT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAagacgatgttctAGATCGAGACCCGACGC chr10:69503226-Variant-T;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Variant T agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagct AGGTAGGTTAGA CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAaggtaggttagaAGATCGAGACCCGACGC chr10:69503226-Variant-T;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Variant T agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagct GATGGCATTCAT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAgatggcattcatAGATCGAGACCCGACGC chr10:69503226-Variant-T;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Variant T agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagct GTTAGATACCGT CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAgttagataccgtAGATCGAGACCCGACGC chr10:69503226-Variant-T;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative A agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagct CAGTCCGTCGAA CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAcagtccgtcgaaAGATCGAGACCCGACGC chr10:69503226-Alternative-A;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Variant T agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagct CAATTACGACGG CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaTtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAcaattacgacggAGATCGAGACCCGACGC chr10:69503226-Variant-T;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative A agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagct CTTGATCACGCG CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAActtgatcacgcgAGATCGAGACCCGACGC chr10:69503226-Alternative-A;Patient-8 chr10:69503226-CT Inherited Patient-8 intergenic 0.000393 0.002051282 -0.29 0.39 0 CTNNA3 47276 Alternative A agatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagct GTCATATGGCCG CGACGCGGTCTCTCTCTagatgcagaaaaggcctttgacaaaattcaacaacgcttcatgctaaaaaAtctcaataaattaggtattgatgggacatatctcaaaataataagagctAGAGGGAGACGGACGTCTCAATAAgtcatatggccgAGATCGAGACCCGACGC chr10:69503226-Alternative-A;Patient-8 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Reference G gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CGTACGGTTGCA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAcgtacggttgcaAGATCGAGACCCGACGC chr10:70711508-Reference-G;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Reference G gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CATCGCAACCGT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAcatcgcaaccgtAGATCGAGACCCGACGC chr10:70711508-Reference-G;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Reference G gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CGGATGGTTAAT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAcggatggttaatAGATCGAGACCCGACGC chr10:70711508-Reference-G;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Reference G gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CTTATCTGCTTC CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAActtatctgcttcAGATCGAGACCCGACGC chr10:70711508-Reference-G;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Reference G gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GGTGATTCCGGT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagGtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAggtgattccggtAGATCGAGACCCGACGC chr10:70711508-Reference-G;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative T gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AGTATCCGAGCG CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAagtatccgagcgAGATCGAGACCCGACGC chr10:70711508-Alternative-T;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative T gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat ACGAACTTCGGC CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAacgaacttcggcAGATCGAGACCCGACGC chr10:70711508-Alternative-T;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative T gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CGGAGAGTCTGT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAcggagagtctgtAGATCGAGACCCGACGC chr10:70711508-Alternative-T;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Variant A gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GTACACGAGCCA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAgtacacgagccaAGATCGAGACCCGACGC chr10:70711508-Variant-A;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Variant A gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AGCAGTTAGCTA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAagcagttagctaAGATCGAGACCCGACGC chr10:70711508-Variant-A;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative T gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat ACTCGGTTCTAT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAactcggttctatAGATCGAGACCCGACGC chr10:70711508-Alternative-T;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative T gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GTACAAGCTAGG CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagTtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAgtacaagctaggAGATCGAGACCCGACGC chr10:70711508-Alternative-T;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Variant A gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AACTAAGGCCGC CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAaactaaggccgcAGATCGAGACCCGACGC chr10:70711508-Variant-A;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Variant A gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GATGTACGCGCA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAgatgtacgcgcaAGATCGAGACCCGACGC chr10:70711508-Variant-A;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Variant A gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AGTTCGTGACTA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagAtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAagttcgtgactaAGATCGAGACCCGACGC chr10:70711508-Variant-A;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative C gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GTTATGTGAGCT CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAgttatgtgagctAGATCGAGACCCGACGC chr10:70711508-Alternative-C;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative C gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AATCAATCGTCG CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAaatcaatcgtcgAGATCGAGACCCGACGC chr10:70711508-Alternative-C;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative C gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat CGATACAACCTA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAcgatacaacctaAGATCGAGACCCGACGC chr10:70711508-Alternative-C;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative C gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat GATATCGGCGAG CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAgatatcggcgagAGATCGAGACCCGACGC chr10:70711508-Alternative-C;Patient-68 chr10:70711508-GA Inherited Patient-68 intergenic 9.6e-05 0.00103 -0.17 0.88 -2.08 KIF1BP 36968 Alternative C gcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagat AGCGGCGATTCA CGACGCGGTCTCTCTCTgcaatggtgagaacaaggcaagatgtgttatatcttggagggctttgtagCtcttgttttggatagctgttggagggtttcagggaagagtgaaaaagatAGAGGGAGACGGACGTCTCAATAAagcggcgattcaAGATCGAGACCCGACGC chr10:70711508-Alternative-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Reference C gttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACACGGCTTGCA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAacacggcttgcaAGATCGAGACCCGACGC chr10:70793676-Reference-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Reference C gttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GAGGTGTTCGCT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgaggtgttcgctAGATCGAGACCCGACGC chr10:70793676-Reference-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Reference C gttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GATATCCGACTA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgatatccgactaAGATCGAGACCCGACGC chr10:70793676-Reference-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative G gttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg AATAGGAGATCG CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAaataggagatcgAGATCGAGACCCGACGC chr10:70793676-Alternative-G;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Reference C gttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg AACTTGTTGCGT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAaacttgttgcgtAGATCGAGACCCGACGC chr10:70793676-Reference-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative G gttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACAGCGGTCGAA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAacagcggtcgaaAGATCGAGACCCGACGC chr10:70793676-Alternative-G;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Variant T gttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GCGTACGTCTGT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgcgtacgtctgtAGATCGAGACCCGACGC chr10:70793676-Variant-T;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative G gttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GTACGGATCATA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgtacggatcataAGATCGAGACCCGACGC chr10:70793676-Alternative-G;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative G gttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg CGATCGGAACAC CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcgatcggaacacAGATCGAGACCCGACGC chr10:70793676-Alternative-G;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative G gttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg CTCACGCGAGTT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagGcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAActcacgcgagttAGATCGAGACCCGACGC chr10:70793676-Alternative-G;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Variant T gttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GCAGGCGACTAA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgcaggcgactaaAGATCGAGACCCGACGC chr10:70793676-Variant-T;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Variant T gttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACTATCCGCTAT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAactatccgctatAGATCGAGACCCGACGC chr10:70793676-Variant-T;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Reference C gttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GCAGTAAGGTCG CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagCcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgcagtaaggtcgAGATCGAGACCCGACGC chr10:70793676-Reference-C;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Variant T gttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg AGGCGTCAAGTC CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAaggcgtcaagtcAGATCGAGACCCGACGC chr10:70793676-Variant-T;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative A gttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GAATGGTACCTT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgaatggtaccttAGATCGAGACCCGACGC chr10:70793676-Alternative-A;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Variant T gttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GAGCACACGTGA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagTcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgagcacacgtgaAGATCGAGACCCGACGC chr10:70793676-Variant-T;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative A gttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACACCAAGTACT CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAacaccaagtactAGATCGAGACCCGACGC chr10:70793676-Alternative-A;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative A gttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg GCGTTCATTCTA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgcgttcattctaAGATCGAGACCCGACGC chr10:70793676-Alternative-A;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative A gttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACGTGGAGCACA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAacgtggagcacaAGATCGAGACCCGACGC chr10:70793676-Alternative-A;Patient-68 chr10:70793676-CT Inherited Patient-68 intergenic 9.6e-05 0.001025641 -0.08 1.56 0.51 KIF1BP 45198 Alternative A gttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgagg ACCTTAGCGCAA CGACGCGGTCTCTCTCTgttatgcatacattctattatgtggtcataattattagtatgtctcttagAcgggcattgtggtgggcacctgtaatcacagctacttgggaggctgaggAGAGGGAGACGGACGTCTCAATAAaccttagcgcaaAGATCGAGACCCGACGC chr10:70793676-Alternative-A;Patient-68 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Variant T gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ACGAGCGGTCTA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAacgagcggtctaAGATCGAGACCCGACGC chr10:71070091-Variant-T;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative A gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CTAGTTGACTTC CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAActagttgacttcAGATCGAGACCCGACGC chr10:71070091-Alternative-A;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Reference C gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg GTGACCGTGGAA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAgtgaccgtggaaAGATCGAGACCCGACGC chr10:71070091-Reference-C;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative A gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ATAGGAGATAGG CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAataggagataggAGATCGAGACCCGACGC chr10:71070091-Alternative-A;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative A gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg GTATCTTGCGAT CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAgtatcttgcgatAGATCGAGACCCGACGC chr10:71070091-Alternative-A;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Reference C gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CATCGGTGAATA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAcatcggtgaataAGATCGAGACCCGACGC chr10:71070091-Reference-C;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative A gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CATGACCAACCA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAcatgaccaaccaAGATCGAGACCCGACGC chr10:71070091-Alternative-A;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Reference C gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ATACGTCCAACA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAatacgtccaacaAGATCGAGACCCGACGC chr10:71070091-Reference-C;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Variant T gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ATTCACCAACAG CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAattcaccaacagAGATCGAGACCCGACGC chr10:71070091-Variant-T;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative G gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ACGGTGTCTATA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAacggtgtctataAGATCGAGACCCGACGC chr10:71070091-Alternative-G;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Reference C gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CTGGTTGTTAAG CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAActggttgttaagAGATCGAGACCCGACGC chr10:71070091-Reference-C;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative A gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg AGATTGGCGCCA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatAgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAagattggcgccaAGATCGAGACCCGACGC chr10:71070091-Alternative-A;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative G gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg AACGTGGTGTGG CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAaacgtggtgtggAGATCGAGACCCGACGC chr10:71070091-Alternative-G;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative G gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ACTCTGCGAATA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAactctgcgaataAGATCGAGACCCGACGC chr10:71070091-Alternative-G;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Variant T gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CTCAACGTATGA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAActcaacgtatgaAGATCGAGACCCGACGC chr10:71070091-Variant-T;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Variant T gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CGTGAACGATAA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAcgtgaacgataaAGATCGAGACCCGACGC chr10:71070091-Variant-T;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Variant T gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg AAGCGGACCTAA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatTgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAaagcggacctaaAGATCGAGACCCGACGC chr10:71070091-Variant-T;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Reference C gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg GTAATCGGTAGT CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatCgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAgtaatcggtagtAGATCGAGACCCGACGC chr10:71070091-Reference-C;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative G gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg ACGCGATCATGG CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAacgcgatcatggAGATCGAGACCCGACGC chr10:71070091-Alternative-G;Patient-54 chr10:71070091-CT Inherited Patient-54 intronic HK1 0.000129 4.95e-05 -0.57 0.05 -0.78 HK1 40334 Alternative G gtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactg CACACGGATCCA CGACGCGGTCTCTCTCTgtggtggatgcctctaatcccagctgcttgggaggctgaggcatgagaatGgcctgaacccatcaggcagaggttgcagtgagccgagatcgtgccactgAGAGGGAGACGGACGTCTCAATAAcacacggatccaAGATCGAGACCCGACGC chr10:71070091-Alternative-G;Patient-54 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative C tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctact CTACCGGATTAA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAActaccggattaaAGATCGAGACCCGACGC chr10:71150106-Alternative-C;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative C tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctact CGTACTTGCCGA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAcgtacttgccgaAGATCGAGACCCGACGC chr10:71150106-Alternative-C;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative C tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctact AGCGTCCGTCAA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAagcgtccgtcaaAGATCGAGACCCGACGC chr10:71150106-Alternative-C;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Variant A tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctact CTCTCGGCTGAT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAActctcggctgatAGATCGAGACCCGACGC chr10:71150106-Variant-A;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative C tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctact ACAAGGAACCTA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAacaaggaacctaAGATCGAGACCCGACGC chr10:71150106-Alternative-C;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Variant A tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctact ATCCGTCTTGTT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAatccgtcttgttAGATCGAGACCCGACGC chr10:71150106-Variant-A;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Variant A tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctact GGTCGACTACGT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAggtcgactacgtAGATCGAGACCCGACGC chr10:71150106-Variant-A;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Variant A tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctact GTAGGAGCCAAT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAgtaggagccaatAGATCGAGACCCGACGC chr10:71150106-Variant-A;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Variant A tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctact ATCCGCACGCAA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgAttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAatccgcacgcaaAGATCGAGACCCGACGC chr10:71150106-Variant-A;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Reference T tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctact ATACGGACGCAG CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAatacggacgcagAGATCGAGACCCGACGC chr10:71150106-Reference-T;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative G tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctact AGTGTTAGGTTC CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAagtgttaggttcAGATCGAGACCCGACGC chr10:71150106-Alternative-G;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Reference T tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctact AGTTGGTTCGAT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAagttggttcgatAGATCGAGACCCGACGC chr10:71150106-Reference-T;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative G tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctact CTGCTGCGCATT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAActgctgcgcattAGATCGAGACCCGACGC chr10:71150106-Alternative-G;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative G tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctact CTAAGAGTCACG CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAActaagagtcacgAGATCGAGACCCGACGC chr10:71150106-Alternative-G;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative G tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctact GGAACACGTAGA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAggaacacgtagaAGATCGAGACCCGACGC chr10:71150106-Alternative-G;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Reference T tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctact AGTTAATGTCGG CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAagttaatgtcggAGATCGAGACCCGACGC chr10:71150106-Reference-T;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Reference T tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctact CAACAGACTTGA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAcaacagacttgaAGATCGAGACCCGACGC chr10:71150106-Reference-T;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Reference T tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctact GCGCGTATGAAC CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgTttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAgcgcgtatgaacAGATCGAGACCCGACGC chr10:71150106-Reference-T;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative C tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctact ATTGACGTGCAT CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgCttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAattgacgtgcatAGATCGAGACCCGACGC chr10:71150106-Alternative-C;Patient-80 chr10:71150106-TA DeNovo Patient-80 intronic HK1 NA 3.84e-05 -0.26 0.49 -3.78 TACR2 26567 Alternative G tcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctact CAACTAGGCTTA CGACGCGGTCTCTCTCTtcctcctcctgcaggccccaccttccctcctgggaggtcaggcccgcccgGttcctggcaccaggctccagctacatttcatagctacttcatagctactAGAGGGAGACGGACGTCTCAATAAcaactaggcttaAGATCGAGACCCGACGC chr10:71150106-Alternative-G;Patient-80 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative C caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt GTTAGGTAGAAG CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAgttaggtagaagAGATCGAGACCCGACGC chr10:71629325-Alternative-C;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative C caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CGCTTGAGGTCA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAcgcttgaggtcaAGATCGAGACCCGACGC chr10:71629325-Alternative-C;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative C caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt ACAATAGCGCGC CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAacaatagcgcgcAGATCGAGACCCGACGC chr10:71629325-Alternative-C;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative C caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt ACAACAGTTCCA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAacaacagttccaAGATCGAGACCCGACGC chr10:71629325-Alternative-C;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative C caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt ACGTCGGAGATA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaCaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAacgtcggagataAGATCGAGACCCGACGC chr10:71629325-Alternative-C;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Variant A caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt ATTCGCAAGAAG CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAattcgcaagaagAGATCGAGACCCGACGC chr10:71629325-Variant-A;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Variant A caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CAGTACGCGGAT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAcagtacgcggatAGATCGAGACCCGACGC chr10:71629325-Variant-A;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Variant A caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CGTAGCGCGATA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAcgtagcgcgataAGATCGAGACCCGACGC chr10:71629325-Variant-A;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Variant A caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AGTTACGCAGAA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAagttacgcagaaAGATCGAGACCCGACGC chr10:71629325-Variant-A;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Variant A caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CTGAGTAGGTAA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaAaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAActgagtaggtaaAGATCGAGACCCGACGC chr10:71629325-Variant-A;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Reference G caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AACGAGCACACG CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAaacgagcacacgAGATCGAGACCCGACGC chr10:71629325-Reference-G;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Reference G caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AGTCTCTTGGAA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAagtctcttggaaAGATCGAGACCCGACGC chr10:71629325-Reference-G;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Reference G caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt GTGACGCATTAT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAgtgacgcattatAGATCGAGACCCGACGC chr10:71629325-Reference-G;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Reference G caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AGCGTCGATATC CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAagcgtcgatatcAGATCGAGACCCGACGC chr10:71629325-Reference-G;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative T caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CGCTCATAGACG CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAcgctcatagacgAGATCGAGACCCGACGC chr10:71629325-Alternative-T;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative T caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AAGACCGATGAA CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAaagaccgatgaaAGATCGAGACCCGACGC chr10:71629325-Alternative-T;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative T caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt CGTCGAATATGT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAcgtcgaatatgtAGATCGAGACCCGACGC chr10:71629325-Alternative-T;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative T caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AGGAGATCAAGT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAaggagatcaagtAGATCGAGACCCGACGC chr10:71629325-Alternative-T;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Alternative T caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt AGTCTAGCAACT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaTaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAagtctagcaactAGATCGAGACCCGACGC chr10:71629325-Alternative-T;Patient-89 chr10:71629325-GA Inherited Patient-89 intronic COL13A1 NA 4.95e-05 0.19 5.64 1.35 COL13A1 67680 Reference G caacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggt GAATCGACAGTT CGACGCGGTCTCTCTCTcaacaggaagacccagatttctgcgggcacaaggtcggccagtgcctgaaGaacataactgtgcaggatggattaaagctgcagcaggaaccatttaggtAGAGGGAGACGGACGTCTCAATAAgaatcgacagttAGATCGAGACCCGACGC chr10:71629325-Reference-G;Patient-89 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Reference C aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CTCGGACTTGCT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAActcggacttgctAGATCGAGACCCGACGC chr10:71721049-Reference-C;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Reference C aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CATGCGATCGAG CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcatgcgatcgagAGATCGAGACCCGACGC chr10:71721049-Reference-C;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Variant T aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CAACCAGATCAT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcaaccagatcatAGATCGAGACCCGACGC chr10:71721049-Variant-T;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative G aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg GATAGTCGTCAT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAgatagtcgtcatAGATCGAGACCCGACGC chr10:71721049-Alternative-G;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Variant T aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg ACTTAACCGAAG CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAacttaaccgaagAGATCGAGACCCGACGC chr10:71721049-Variant-T;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative G aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg GCAACTCGTAAT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAgcaactcgtaatAGATCGAGACCCGACGC chr10:71721049-Alternative-G;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Variant T aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CGTCTATCTAAG CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcgtctatctaagAGATCGAGACCCGACGC chr10:71721049-Variant-T;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative G aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg AATAGCATCGAG CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAaatagcatcgagAGATCGAGACCCGACGC chr10:71721049-Alternative-G;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Variant T aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg GAGCAGTGATGA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAgagcagtgatgaAGATCGAGACCCGACGC chr10:71721049-Variant-T;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative G aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg AGGCTAATGAGA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAaggctaatgagaAGATCGAGACCCGACGC chr10:71721049-Alternative-G;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative A aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg GTCGTAGTACCA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAgtcgtagtaccaAGATCGAGACCCGACGC chr10:71721049-Alternative-A;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative G aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg AGGCTTATTGAG CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagGcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAaggcttattgagAGATCGAGACCCGACGC chr10:71721049-Alternative-G;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Variant T aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg GAGTTGCGCCTA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagTcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAgagttgcgcctaAGATCGAGACCCGACGC chr10:71721049-Variant-T;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative A aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg AGGAACTTACCT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAaggaacttacctAGATCGAGACCCGACGC chr10:71721049-Alternative-A;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative A aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CAGGACCATACT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcaggaccatactAGATCGAGACCCGACGC chr10:71721049-Alternative-A;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative A aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CGTTCCATACAC CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcgttccatacacAGATCGAGACCCGACGC chr10:71721049-Alternative-A;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Reference C aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CGAGGCTATAAT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcgaggctataatAGATCGAGACCCGACGC chr10:71721049-Reference-C;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Alternative A aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CATTATGCCGAA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagAcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcattatgccgaaAGATCGAGACCCGACGC chr10:71721049-Alternative-A;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Reference C aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CGAAGATGTAGA CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAAcgaagatgtagaAGATCGAGACCCGACGC chr10:71721049-Reference-C;Patient-84 chr10:71721049-CT Inherited Patient-84 intergenic 0.000833 0.000513 -0.21 0.69 -2.02 H2AFY2 91307 Reference C aggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacgg CTATGCGTGAAT CGACGCGGTCTCTCTCTaggctgggcctggtttcggagcccacactgccctgcccagtgggttgcagCcccccgaggtttagccccgtgtgtgtaaacacattgtctccccacacggAGAGGGAGACGGACGTCTCAATAActatgcgtgaatAGATCGAGACCCGACGC chr10:71721049-Reference-C;Patient-84 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative G tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGACGCGCAGAA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagacgcgcagaaAGATCGAGACCCGACGC chr10:71894144-Alternative-G;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative G tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GCGTCAGATGCA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgcgtcagatgcaAGATCGAGACCCGACGC chr10:71894144-Alternative-G;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Variant C tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGTATAGTGGCA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagtatagtggcaAGATCGAGACCCGACGC chr10:71894144-Variant-C;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative A tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GTGGCAATACGG CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgtggcaatacggAGATCGAGACCCGACGC chr10:71894144-Alternative-A;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative A tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GCAGTATGCACA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgcagtatgcacaAGATCGAGACCCGACGC chr10:71894144-Alternative-A;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Variant C tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GACGCAATCGTC CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgacgcaatcgtcAGATCGAGACCCGACGC chr10:71894144-Variant-C;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative A tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGTAATCACCAC CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagtaatcaccacAGATCGAGACCCGACGC chr10:71894144-Alternative-A;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Variant C tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGCACCACGAGA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagcaccacgagaAGATCGAGACCCGACGC chr10:71894144-Variant-C;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Reference T tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GGATCGACAGAT CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAggatcgacagatAGATCGAGACCCGACGC chr10:71894144-Reference-T;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Variant C tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GTCATGGTTCGG CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgtcatggttcggAGATCGAGACCCGACGC chr10:71894144-Variant-C;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative G tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GGAGAACTAACT CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAggagaactaactAGATCGAGACCCGACGC chr10:71894144-Alternative-G;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Variant C tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGAATTACCGTC CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttCataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagaattaccgtcAGATCGAGACCCGACGC chr10:71894144-Variant-C;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative A tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GCGTCTGCTATC CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgcgtctgctatcAGATCGAGACCCGACGC chr10:71894144-Alternative-A;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Reference T tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca ACCGCCGAACAT CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAaccgccgaacatAGATCGAGACCCGACGC chr10:71894144-Reference-T;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Reference T tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GGTTCCGAGCAT CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAggttccgagcatAGATCGAGACCCGACGC chr10:71894144-Reference-T;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Reference T tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AGATACTTCAGG CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAagatacttcaggAGATCGAGACCCGACGC chr10:71894144-Reference-T;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Reference T tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca AAGGCGACTAAT CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttTataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAaaggcgactaatAGATCGAGACCCGACGC chr10:71894144-Reference-T;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative A tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca GTACACGAACGG CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttAataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAgtacacgaacggAGATCGAGACCCGACGC chr10:71894144-Alternative-A;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative G tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca CGCTTCACGCTA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAcgcttcacgctaAGATCGAGACCCGACGC chr10:71894144-Alternative-G;Patient-22 chr10:71894144-TC DeNovo Patient-22 intergenic NA 0.000513 0.17 5.39 1.23 SAR1A 36140 Alternative G tctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacaca CGGCGTACTCAA CGACGCGGTCTCTCTCTtctaaaaaaagaaaaaaagagttgtggaaaggcctcaatgagatcattttGataaagtgttttaacatggtgcctggcacacagtagcaatgaatacacaAGAGGGAGACGGACGTCTCAATAAcggcgtactcaaAGATCGAGACCCGACGC chr10:71894144-Alternative-G;Patient-22 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Reference C gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CGTTATGAACCT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcgttatgaacctAGATCGAGACCCGACGC chr10:72395214-Reference-C;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Reference C gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CTGTTCCGCCTT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAActgttccgccttAGATCGAGACCCGACGC chr10:72395214-Reference-C;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Reference C gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat ATCGACACAGAA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAatcgacacagaaAGATCGAGACCCGACGC chr10:72395214-Reference-C;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Variant T gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat ACCAACTTGTTC CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAaccaacttgttcAGATCGAGACCCGACGC chr10:72395214-Variant-T;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Variant T gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CGTAGAGTAACA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcgtagagtaacaAGATCGAGACCCGACGC chr10:72395214-Variant-T;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Variant T gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CAGTAAGCCGAA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcagtaagccgaaAGATCGAGACCCGACGC chr10:72395214-Variant-T;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative G gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CGCTTAGACTTA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcgcttagacttaAGATCGAGACCCGACGC chr10:72395214-Alternative-G;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Variant T gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GATAGTGCAACA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAgatagtgcaacaAGATCGAGACCCGACGC chr10:72395214-Variant-T;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative A gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CGCTACTATTGT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcgctactattgtAGATCGAGACCCGACGC chr10:72395214-Alternative-A;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative A gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat ACAGAGCTGTGG CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAacagagctgtggAGATCGAGACCCGACGC chr10:72395214-Alternative-A;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Variant T gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GCGAGTAGTAAT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtTgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAgcgagtagtaatAGATCGAGACCCGACGC chr10:72395214-Variant-T;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative A gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CTTAGGTGTAAC CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAActtaggtgtaacAGATCGAGACCCGACGC chr10:72395214-Alternative-A;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative G gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CATGCTTACATC CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcatgcttacatcAGATCGAGACCCGACGC chr10:72395214-Alternative-G;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative A gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GGTCGAACCTGT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAggtcgaacctgtAGATCGAGACCCGACGC chr10:72395214-Alternative-A;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Reference C gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat AAGACTAGTCGA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAaagactagtcgaAGATCGAGACCCGACGC chr10:72395214-Reference-C;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative A gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GTTCCGCGAATC CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtAgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAgttccgcgaatcAGATCGAGACCCGACGC chr10:72395214-Alternative-A;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Reference C gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GGATAGTAGAAG CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtCgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAggatagtagaagAGATCGAGACCCGACGC chr10:72395214-Reference-C;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative G gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat GGCCGATTAAGG CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAggccgattaaggAGATCGAGACCCGACGC chr10:72395214-Alternative-G;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative G gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat ATAGCATGCGAT CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAatagcatgcgatAGATCGAGACCCGACGC chr10:72395214-Alternative-G;Patient-66 chr10:72395214-CT DeNovo Patient-66 intergenic 0.000351 0.001538462 -0.06 1.78 0.12 PRF1 32682 Alternative G gaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccat CATAGCGCGCAA CGACGCGGTCTCTCTCTgaaaatccatttatttatttatttatttttgaggtagagtcttgctatgtGgcccaggctggggtgcagtggtgccatcatagctcactgcatgttccatAGAGGGAGACGGACGTCTCAATAAcatagcgcgcaaAGATCGAGACCCGACGC chr10:72395214-Alternative-G;Patient-66 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Reference C gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacac AAGGTTCGGCCA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAaaggttcggccaAGATCGAGACCCGACGC chr10:73192864-Reference-C;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative A gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacac ATCACGGTGAAC CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAatcacggtgaacAGATCGAGACCCGACGC chr10:73192864-Alternative-A;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative A gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacac GTTATCGTCTGT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgttatcgtctgtAGATCGAGACCCGACGC chr10:73192864-Alternative-A;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative A gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacac GTATTCGAGCCA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgtattcgagccaAGATCGAGACCCGACGC chr10:73192864-Alternative-A;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative A gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacac CGGAGCTAACCT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAcggagctaacctAGATCGAGACCCGACGC chr10:73192864-Alternative-A;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative A gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacac CTACGTCGCTGT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaAtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAActacgtcgctgtAGATCGAGACCCGACGC chr10:73192864-Alternative-A;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Variant G gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacac ATCATAACGCCA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAatcataacgccaAGATCGAGACCCGACGC chr10:73192864-Variant-G;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Variant G gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacac GTGAACTTGGTT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgtgaacttggttAGATCGAGACCCGACGC chr10:73192864-Variant-G;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Variant G gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacac CTCTGCGAACAT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAActctgcgaacatAGATCGAGACCCGACGC chr10:73192864-Variant-G;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Reference C gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacac AGACCGGAGTCT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAagaccggagtctAGATCGAGACCCGACGC chr10:73192864-Reference-C;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Reference C gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacac CGTGGAGTACGA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAcgtggagtacgaAGATCGAGACCCGACGC chr10:73192864-Reference-C;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Reference C gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacac AACGACCAACTT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAaacgaccaacttAGATCGAGACCCGACGC chr10:73192864-Reference-C;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Reference C gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacac ACGTGAACTACC CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaCtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAacgtgaactaccAGATCGAGACCCGACGC chr10:73192864-Reference-C;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative T gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacac GGTCAACGAATA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAggtcaacgaataAGATCGAGACCCGACGC chr10:73192864-Alternative-T;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative T gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacac GTCAGATTGACA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgtcagattgacaAGATCGAGACCCGACGC chr10:73192864-Alternative-T;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative T gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacac ATCCTACCGTCA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAatcctaccgtcaAGATCGAGACCCGACGC chr10:73192864-Alternative-T;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative T gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacac CGTGGTTGATGC CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAcgtggttgatgcAGATCGAGACCCGACGC chr10:73192864-Alternative-T;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Alternative T gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacac AGTGGCCGGATT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaTtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAagtggccggattAGATCGAGACCCGACGC chr10:73192864-Alternative-T;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Variant G gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacac GCAGAACGCGAA CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgcagaacgcgaaAGATCGAGACCCGACGC chr10:73192864-Variant-G;Patient-30 chr10:73192864-CG Inherited Patient-30 intronic CDH23 0.000128 0.000101 NA NA NA CDH23 36172 Variant G gatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacac GTGAGGTTCATT CGACGCGGTCTCTCTCTgatgtcaacacgttgaatgcttattgcagaagataggcggaatgcagaaaGtagctagaagacaataaaacttcccataacctcaccactcacacaacacAGAGGGAGACGGACGTCTCAATAAgtgaggttcattAGATCGAGACCCGACGC chr10:73192864-Variant-G;Patient-30 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Reference C ctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CGGATCGTCCTA CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcggatcgtcctaAGATCGAGACCCGACGC chr10:73209524-Reference-C;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Reference C ctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GATGAAGCGAAT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAgatgaagcgaatAGATCGAGACCCGACGC chr10:73209524-Reference-C;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Reference C ctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga AATCGTAGCGTT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAaatcgtagcgttAGATCGAGACCCGACGC chr10:73209524-Reference-C;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative A ctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CATTCGTCGTCG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcattcgtcgtcgAGATCGAGACCCGACGC chr10:73209524-Alternative-A;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative A ctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga AACAGATGTCGA CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAaacagatgtcgaAGATCGAGACCCGACGC chr10:73209524-Alternative-A;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Reference C ctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CTCATCGTGATT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAActcatcgtgattAGATCGAGACCCGACGC chr10:73209524-Reference-C;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative A ctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga ATATGGCCGTCG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAatatggccgtcgAGATCGAGACCCGACGC chr10:73209524-Alternative-A;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative A ctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GGTCTTAGTTCT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAggtcttagttctAGATCGAGACCCGACGC chr10:73209524-Alternative-A;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Reference C ctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CGCAAGCAGTAC CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctCgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcgcaagcagtacAGATCGAGACCCGACGC chr10:73209524-Reference-C;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative G ctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GTAAGTACGGCG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAgtaagtacggcgAGATCGAGACCCGACGC chr10:73209524-Alternative-G;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative G ctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga AGAACGAGATGT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAagaacgagatgtAGATCGAGACCCGACGC chr10:73209524-Alternative-G;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Variant T ctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga AAGTACCACGCG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAaagtaccacgcgAGATCGAGACCCGACGC chr10:73209524-Variant-T;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Variant T ctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CGTATAGGCGCT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcgtataggcgctAGATCGAGACCCGACGC chr10:73209524-Variant-T;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative A ctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GCATCCGGTAAG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctAgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAgcatccggtaagAGATCGAGACCCGACGC chr10:73209524-Alternative-A;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative G ctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CGTAGTTGACCG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcgtagttgaccgAGATCGAGACCCGACGC chr10:73209524-Alternative-G;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative G ctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GTTCAAGCCGTC CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAgttcaagccgtcAGATCGAGACCCGACGC chr10:73209524-Alternative-G;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Variant T ctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga ACCGTGATTAGT CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAaccgtgattagtAGATCGAGACCCGACGC chr10:73209524-Variant-T;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Alternative G ctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga CGTGACTTCGTC CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctGgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAcgtgacttcgtcAGATCGAGACCCGACGC chr10:73209524-Alternative-G;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Variant T ctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga AGGTAGAGTACG CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAaggtagagtacgAGATCGAGACCCGACGC chr10:73209524-Variant-T;Patient-85 chr10:73209524-CT DeNovo Patient-85 intronic CDH23 NA 4.19e-05 -0.01 2.54 -0.36 CDH23 52832 Variant T ctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctggga GTGGCTACATTA CGACGCGGTCTCTCTCTctgggttagagactgagacttttatccacccccaaccttctgagccttctTgttttgtatgctcttgcctgcgttccaacagggggccagtggcctgggaAGAGGGAGACGGACGTCTCAATAAgtggctacattaAGATCGAGACCCGACGC chr10:73209524-Variant-T;Patient-85 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Reference C tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GCGCCGTAGTAA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgcgccgtagtaaAGATCGAGACCCGACGC chr10:73228729-Reference-C;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Reference C tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcagg AGGCAATCGCTA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAaggcaatcgctaAGATCGAGACCCGACGC chr10:73228729-Reference-C;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Reference C tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcagg CATAGAGCGATA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAcatagagcgataAGATCGAGACCCGACGC chr10:73228729-Reference-C;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Reference C tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GGTGACCGAGTT CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAggtgaccgagttAGATCGAGACCCGACGC chr10:73228729-Reference-C;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Reference C tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GATTAAGCGAAG CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggCctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgattaagcgaagAGATCGAGACCCGACGC chr10:73228729-Reference-C;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative A tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcagg GTGTCGGAACGA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgtgtcggaacgaAGATCGAGACCCGACGC chr10:73228729-Alternative-A;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative A tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcagg AGGTTGTCGAAC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAaggttgtcgaacAGATCGAGACCCGACGC chr10:73228729-Alternative-A;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative A tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcagg AATGGCCGAACC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAaatggccgaaccAGATCGAGACCCGACGC chr10:73228729-Alternative-A;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative A tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcagg ATTACTCGGACA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAattactcggacaAGATCGAGACCCGACGC chr10:73228729-Alternative-A;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative A tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcagg GGCGCTGATCTT CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggActgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAggcgctgatcttAGATCGAGACCCGACGC chr10:73228729-Alternative-A;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative T tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcagg AGATCATCAACC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAagatcatcaaccAGATCGAGACCCGACGC chr10:73228729-Alternative-T;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative T tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcagg CTCGGTATCTTA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAActcggtatcttaAGATCGAGACCCGACGC chr10:73228729-Alternative-T;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative T tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcagg AATCACGCGTCC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAaatcacgcgtccAGATCGAGACCCGACGC chr10:73228729-Alternative-T;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative T tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcagg ATCATGCTTGTC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAatcatgcttgtcAGATCGAGACCCGACGC chr10:73228729-Alternative-T;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Alternative T tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GATGTATGGAGA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggTctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgatgtatggagaAGATCGAGACCCGACGC chr10:73228729-Alternative-T;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Variant G tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcagg CGCCTAAGGTAA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAcgcctaaggtaaAGATCGAGACCCGACGC chr10:73228729-Variant-G;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Variant G tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GTCTAGCGATGG CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgtctagcgatggAGATCGAGACCCGACGC chr10:73228729-Variant-G;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Variant G tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcagg CAGACGCTGAAC CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAcagacgctgaacAGATCGAGACCCGACGC chr10:73228729-Variant-G;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Variant G tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcagg CGAGTACTAACG CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAcgagtactaacgAGATCGAGACCCGACGC chr10:73228729-Variant-G;Patient-30 chr10:73228729-CG Inherited Patient-30 intronic CDH23 NA 4.19e-05 NA NA NA CDH23 72037 Variant G tcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcagg GTTGAGGTGTAA CGACGCGGTCTCTCTCTtcaggctggctctcaggagctgtctttctgccaggctccttctctgtgggGctgagggaggctcagtagctccctttccctccaagagccccaaagcaggAGAGGGAGACGGACGTCTCAATAAgttgaggtgtaaAGATCGAGACCCGACGC chr10:73228729-Variant-G;Patient-30 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative G gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CTGAGTGTTACA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAActgagtgttacaAGATCGAGACCCGACGC chr10:74012453-Alternative-G;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative G gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag ACGACTATGTCA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAacgactatgtcaAGATCGAGACCCGACGC chr10:74012453-Alternative-G;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative G gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GGATAGTCGCCT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAggatagtcgcctAGATCGAGACCCGACGC chr10:74012453-Alternative-G;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Variant T gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GTCTCGAGGTGT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgtctcgaggtgtAGATCGAGACCCGACGC chr10:74012453-Variant-T;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Variant T gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag AGGCTTCGATAT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAaggcttcgatatAGATCGAGACCCGACGC chr10:74012453-Variant-T;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative G gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag ATATGACGAGGT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAatatgacgaggtAGATCGAGACCCGACGC chr10:74012453-Alternative-G;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Variant T gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CTTAGACCTCTT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAActtagacctcttAGATCGAGACCCGACGC chr10:74012453-Variant-T;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative G gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CTCTCGTCCGTT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacGgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAActctcgtccgttAGATCGAGACCCGACGC chr10:74012453-Alternative-G;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative A gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CGGAGAGTATAT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAcggagagtatatAGATCGAGACCCGACGC chr10:74012453-Alternative-A;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative A gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GAGGTAGGATAA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgaggtaggataaAGATCGAGACCCGACGC chr10:74012453-Alternative-A;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Reference C gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GATGCAGCGTCA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgatgcagcgtcaAGATCGAGACCCGACGC chr10:74012453-Reference-C;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative A gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GAATGCGGAATA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgaatgcggaataAGATCGAGACCCGACGC chr10:74012453-Alternative-A;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative A gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CGCCACGTATAA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAcgccacgtataaAGATCGAGACCCGACGC chr10:74012453-Alternative-A;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Variant T gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CGTGATTAGTCA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAcgtgattagtcaAGATCGAGACCCGACGC chr10:74012453-Variant-T;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Reference C gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag AGTACGGTGCGA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAagtacggtgcgaAGATCGAGACCCGACGC chr10:74012453-Reference-C;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Reference C gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag ATCGTTCGTGAA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAatcgttcgtgaaAGATCGAGACCCGACGC chr10:74012453-Reference-C;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Alternative A gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GCGTGCAAGAAG CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacAgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgcgtgcaagaagAGATCGAGACCCGACGC chr10:74012453-Alternative-A;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Variant T gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag AACGCTCCGAAG CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacTgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAaacgctccgaagAGATCGAGACCCGACGC chr10:74012453-Variant-T;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Reference C gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag CTTACGACAACA CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAActtacgacaacaAGATCGAGACCCGACGC chr10:74012453-Reference-C;Patient-88 chr10:74012453-CT DeNovo Patient-88 intergenic 0.000108 0.000513 -0.51 0.08 -1.31 DDIT4 21223 Reference C gttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaag GTGCGCTCTCTT CGACGCGGTCTCTCTCTgttgcagtgagctgagatcacaccattgcactccagcctgggtgacagacCgagactccatctcaaaaaaaaaaaaaaaaaaagaaagaactgacagaagAGAGGGAGACGGACGTCTCAATAAgtgcgctctcttAGATCGAGACCCGACGC chr10:74012453-Reference-C;Patient-88 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative A cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GAATCAGTGCTT CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgaatcagtgcttAGATCGAGACCCGACGC chr10:74296228-Alternative-A;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Variant T cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt AATCAACGGCTA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAaatcaacggctaAGATCGAGACCCGACGC chr10:74296228-Variant-T;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Reference C cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GGTGTAACGCGA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAggtgtaacgcgaAGATCGAGACCCGACGC chr10:74296228-Reference-C;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Reference C cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CTCGTTAGCCGT CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAActcgttagccgtAGATCGAGACCCGACGC chr10:74296228-Reference-C;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative A cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GTATTGATGCAC CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgtattgatgcacAGATCGAGACCCGACGC chr10:74296228-Alternative-A;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative A cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GACGACTAACTT CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgacgactaacttAGATCGAGACCCGACGC chr10:74296228-Alternative-A;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Variant T cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt ACAAGATCGGAA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAacaagatcggaaAGATCGAGACCCGACGC chr10:74296228-Variant-T;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Variant T cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GAAGTTGACCTA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgaagttgacctaAGATCGAGACCCGACGC chr10:74296228-Variant-T;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative G cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GCGCTAGTACCT CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgcgctagtacctAGATCGAGACCCGACGC chr10:74296228-Alternative-G;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Variant T cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt ATAGGCGGATCG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAataggcggatcgAGATCGAGACCCGACGC chr10:74296228-Variant-T;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative A cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CATCAGGAGCCA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAcatcaggagccaAGATCGAGACCCGACGC chr10:74296228-Alternative-A;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Reference C cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CACTGAAGGTGG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAcactgaaggtggAGATCGAGACCCGACGC chr10:74296228-Reference-C;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Variant T cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GTAGCCATGGAG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcTtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgtagccatggagAGATCGAGACCCGACGC chr10:74296228-Variant-T;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative G cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CGATTAGTATGC CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAcgattagtatgcAGATCGAGACCCGACGC chr10:74296228-Alternative-G;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative G cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CGATTCTATTCG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAcgattctattcgAGATCGAGACCCGACGC chr10:74296228-Alternative-G;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Reference C cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt CAAGCGTCAACG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAcaagcgtcaacgAGATCGAGACCCGACGC chr10:74296228-Reference-C;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative G cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt ACCTTACTATCG CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAaccttactatcgAGATCGAGACCCGACGC chr10:74296228-Alternative-G;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative G cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt AGCTCTCTGCGA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcGtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAagctctctgcgaAGATCGAGACCCGACGC chr10:74296228-Alternative-G;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Alternative A cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GCGACTGGTAGA CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcAtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgcgactggtagaAGATCGAGACCCGACGC chr10:74296228-Alternative-A;Patient-66 chr10:74296228-CT DeNovo Patient-66 intronic MICU1 NA 4.95e-05 -0.03 2.13 0.25 MICU1 89720 Reference C cactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaatttttt GACGTACGGAGT CGACGCGGTCTCTCTCTcactgcaacctccacctcctgggttcaagcgattctcctgccttagcctcCtgagtagctgggactacaggtgcgtgccaccatgcccggctaattttttAGAGGGAGACGGACGTCTCAATAAgacgtacggagtAGATCGAGACCCGACGC chr10:74296228-Reference-C;Patient-66 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Reference C tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat ACGCTAGTACGC CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAacgctagtacgcAGATCGAGACCCGACGC chr10:74372104-Reference-C;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Variant G tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CGAGATTGAACT CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAcgagattgaactAGATCGAGACCCGACGC chr10:74372104-Variant-G;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Reference C tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGATGCTTGGAA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAagatgcttggaaAGATCGAGACCCGACGC chr10:74372104-Reference-C;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Reference C tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat GATAAGCAAGCT CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAgataagcaagctAGATCGAGACCCGACGC chr10:74372104-Reference-C;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Reference C tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGTAACGTCCTA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAagtaacgtcctaAGATCGAGACCCGACGC chr10:74372104-Reference-C;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative T tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AAGCAGCGGCAT CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAaagcagcggcatAGATCGAGACCCGACGC chr10:74372104-Alternative-T;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Variant G tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGATGGAACGCG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAagatggaacgcgAGATCGAGACCCGACGC chr10:74372104-Variant-G;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Variant G tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat ACACGTCCAATA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAacacgtccaataAGATCGAGACCCGACGC chr10:74372104-Variant-G;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative T tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CAGTTAGCGAGA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAcagttagcgagaAGATCGAGACCCGACGC chr10:74372104-Alternative-T;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Variant G tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CTGCGTATGTGG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAActgcgtatgtggAGATCGAGACCCGACGC chr10:74372104-Variant-G;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative T tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat GGACTTCATCGG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAggacttcatcggAGATCGAGACCCGACGC chr10:74372104-Alternative-T;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative A tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CTGCTGCATCCA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAActgctgcatccaAGATCGAGACCCGACGC chr10:74372104-Alternative-A;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative T tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat GCGATTCGCGAA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAgcgattcgcgaaAGATCGAGACCCGACGC chr10:74372104-Alternative-T;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Reference C tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGCACGCGTGAT CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacCagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAagcacgcgtgatAGATCGAGACCCGACGC chr10:74372104-Reference-C;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative A tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat ATTCGGTTCCGG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAattcggttccggAGATCGAGACCCGACGC chr10:74372104-Alternative-A;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative A tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CTCATAAGTCGG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAActcataagtcggAGATCGAGACCCGACGC chr10:74372104-Alternative-A;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative T tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGCCTTAGATCA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacTagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAagccttagatcaAGATCGAGACCCGACGC chr10:74372104-Alternative-T;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Variant G tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CGGAGCGTAAGA CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacGagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAcggagcgtaagaAGATCGAGACCCGACGC chr10:74372104-Variant-G;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative A tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat CAAGTCATTCGG CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAcaagtcattcggAGATCGAGACCCGACGC chr10:74372104-Alternative-A;Patient-27 chr10:74372104-CG DeNovo Patient-27 intronic MICU1 NA 0.00016 0.56 9.92 0.58 MICU1 13844 Alternative A tgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttat AGGTTCGCTCCT CGACGCGGTCTCTCTCTtgacacttcgtgaatcttaacacagtacacaaagtatttcaggagctgacAagactttaatctgagcctaaagaaaacatgcagtcgaaaaggaagttatAGAGGGAGACGGACGTCTCAATAAaggttcgctcctAGATCGAGACCCGACGC chr10:74372104-Alternative-A;Patient-27 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Reference A tttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CGGCGGATAGAA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcggcggatagaaAGATCGAGACCCGACGC chr10:74502293-Reference-A;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative T tttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GATACGCTTCAA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgatacgcttcaaAGATCGAGACCCGACGC chr10:74502293-Alternative-T;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative T tttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GTTAGGCACGCT CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgttaggcacgctAGATCGAGACCCGACGC chr10:74502293-Alternative-T;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative T tttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CTATAATACCGG CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAActataataccggAGATCGAGACCCGACGC chr10:74502293-Alternative-T;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Variant G tttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CAGCGGATTCGT CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcagcggattcgtAGATCGAGACCCGACGC chr10:74502293-Variant-G;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative T tttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CGTTGCGTAATT CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcgttgcgtaattAGATCGAGACCCGACGC chr10:74502293-Alternative-T;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative T tttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CGACGCGAGATA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataTccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcgacgcgagataAGATCGAGACCCGACGC chr10:74502293-Alternative-T;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative C tttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GCGCATTGAAGG CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgcgcattgaaggAGATCGAGACCCGACGC chr10:74502293-Alternative-C;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Variant G tttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GCGCCTATATAA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgcgcctatataaAGATCGAGACCCGACGC chr10:74502293-Variant-G;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Variant G tttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CGATGAGTTACA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcgatgagttacaAGATCGAGACCCGACGC chr10:74502293-Variant-G;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Reference A tttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GCGACATAGTGG CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgcgacatagtggAGATCGAGACCCGACGC chr10:74502293-Reference-A;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Reference A tttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CACGGCAAGTAC CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcacggcaagtacAGATCGAGACCCGACGC chr10:74502293-Reference-A;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Reference A tttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagag AGTTCATGGAAC CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAagttcatggaacAGATCGAGACCCGACGC chr10:74502293-Reference-A;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative C tttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagag AATACCGCATGC CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAaataccgcatgcAGATCGAGACCCGACGC chr10:74502293-Alternative-C;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Variant G tttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagag CGCGAGTTGGAT CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAcgcgagttggatAGATCGAGACCCGACGC chr10:74502293-Variant-G;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative C tttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GTCGGCCAATCA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgtcggccaatcaAGATCGAGACCCGACGC chr10:74502293-Alternative-C;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Reference A tttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagag ATAGCGCATGTT CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataAccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAatagcgcatgttAGATCGAGACCCGACGC chr10:74502293-Reference-A;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative C tttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagag GAGCATTCCTAA CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAgagcattcctaaAGATCGAGACCCGACGC chr10:74502293-Alternative-C;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Alternative C tttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagag AGGTTACTGCCG CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataCccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAaggttactgccgAGATCGAGACCCGACGC chr10:74502293-Alternative-C;Patient-23 chr10:74502293-AG DeNovo Patient-23 intronic MCU 0.000923 0.000148 -0.03 2.13 -1.97 MCU 50403 Variant G tttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagag AGCATTGACCGC CGACGCGGTCTCTCTCTtttttttagacttaagtaaataatactcagaaatgaatatgattcttataGccatcgttttcatgtgttctttggatgcttgcatatttactggggagagAGAGGGAGACGGACGTCTCAATAAagcattgaccgcAGATCGAGACCCGACGC chr10:74502293-Variant-G;Patient-23 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Reference A tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ATCGGTGGCGTT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAatcggtggcgttAGATCGAGACCCGACGC chr10:74820324-Reference-A;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative C tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat CGCGTCATCGAA CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAcgcgtcatcgaaAGATCGAGACCCGACGC chr10:74820324-Alternative-C;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Reference A tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GTGATAAGACCA CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAgtgataagaccaAGATCGAGACCCGACGC chr10:74820324-Reference-A;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative C tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ACGTTAGCCGAC CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAacgttagccgacAGATCGAGACCCGACGC chr10:74820324-Alternative-C;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Reference A tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GGACTCACAATA CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAggactcacaataAGATCGAGACCCGACGC chr10:74820324-Reference-A;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative C tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GTCATCAAGCAT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAgtcatcaagcatAGATCGAGACCCGACGC chr10:74820324-Alternative-C;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Reference A tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat AGACGAGATGAA CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAagacgagatgaaAGATCGAGACCCGACGC chr10:74820324-Reference-A;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative T tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat AGGTAGCGACAC CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAaggtagcgacacAGATCGAGACCCGACGC chr10:74820324-Alternative-T;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Reference A tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat AGTTCACAAGTC CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacAtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAagttcacaagtcAGATCGAGACCCGACGC chr10:74820324-Reference-A;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative C tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat AGCTGGCGATAT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAagctggcgatatAGATCGAGACCCGACGC chr10:74820324-Alternative-C;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative C tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GTAAGTCGTCTA CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacCtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAgtaagtcgtctaAGATCGAGACCCGACGC chr10:74820324-Alternative-C;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative T tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat AGTCCGCGAGTT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAagtccgcgagttAGATCGAGACCCGACGC chr10:74820324-Alternative-T;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative T tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ACACGAACGAAT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAacacgaacgaatAGATCGAGACCCGACGC chr10:74820324-Alternative-T;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Variant G tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GGACACACGGAT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAggacacacggatAGATCGAGACCCGACGC chr10:74820324-Variant-G;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Variant G tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ATAAGACGGTGT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAataagacggtgtAGATCGAGACCCGACGC chr10:74820324-Variant-G;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Variant G tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ACACCAAGTTGT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAacaccaagttgtAGATCGAGACCCGACGC chr10:74820324-Variant-G;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative T tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat CTTACGCTGTGC CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAActtacgctgtgcAGATCGAGACCCGACGC chr10:74820324-Alternative-T;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Variant G tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat CGGCAGATGCTT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAcggcagatgcttAGATCGAGACCCGACGC chr10:74820324-Variant-G;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Variant G tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat GTTGGCGCTTGT CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacGtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAgttggcgcttgtAGATCGAGACCCGACGC chr10:74820324-Variant-G;Patient-71 chr10:74820324-AG DeNovo Patient-71 intronic P4HA1 NA 9.9e-05 0.06 3.54 0.39 P4HA1 36407 Alternative T tgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcat ACGAACCTTAAG CGACGCGGTCTCTCTCTtgcaccatgatcgcatctgtgaatagccactgcactccagcctgagcaacTtggcaagaacctatctcttaaggggggaaaaagaagggccaaggctcatAGAGGGAGACGGACGTCTCAATAAacgaaccttaagAGATCGAGACCCGACGC chr10:74820324-Alternative-T;Patient-71 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative C tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatat GTTGTTCGGCAG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAgttgttcggcagAGATCGAGACCCGACGC chr10:75610371-Alternative-C;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative C tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatat GCGAACGAACCT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAgcgaacgaacctAGATCGAGACCCGACGC chr10:75610371-Alternative-C;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative C tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatat CGATGAATCCGG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAcgatgaatccggAGATCGAGACCCGACGC chr10:75610371-Alternative-C;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative C tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACACGACATCAT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAacacgacatcatAGATCGAGACCCGACGC chr10:75610371-Alternative-C;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Variant A tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatat AGTTCATACGCA CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAagttcatacgcaAGATCGAGACCCGACGC chr10:75610371-Variant-A;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative C tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACCACGGTTAGG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagCaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAaccacggttaggAGATCGAGACCCGACGC chr10:75610371-Alternative-C;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Reference G tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACAATGGTCGCG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAacaatggtcgcgAGATCGAGACCCGACGC chr10:75610371-Reference-G;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative T tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatat CGTACATCTCAA CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAcgtacatctcaaAGATCGAGACCCGACGC chr10:75610371-Alternative-T;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Variant A tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACTAACGCTCTT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAactaacgctcttAGATCGAGACCCGACGC chr10:75610371-Variant-A;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Reference G tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatat AATGTCGTGGTT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAaatgtcgtggttAGATCGAGACCCGACGC chr10:75610371-Reference-G;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative T tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatat GGACGTCTTGAC CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAggacgtcttgacAGATCGAGACCCGACGC chr10:75610371-Alternative-T;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Variant A tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACGAGTCTGGAG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAacgagtctggagAGATCGAGACCCGACGC chr10:75610371-Variant-A;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Variant A tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatat AGTCGTAGACGG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAagtcgtagacggAGATCGAGACCCGACGC chr10:75610371-Variant-A;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Variant A tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatat GCGTGTATTCGG CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagAaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAgcgtgtattcggAGATCGAGACCCGACGC chr10:75610371-Variant-A;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative T tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatat AGACCATGCGGT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAagaccatgcggtAGATCGAGACCCGACGC chr10:75610371-Alternative-T;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative T tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatat CTCTTCGTATGA CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAActcttcgtatgaAGATCGAGACCCGACGC chr10:75610371-Alternative-T;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Alternative T tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatat GACCAACGCCAA CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagTaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAgaccaacgccaaAGATCGAGACCCGACGC chr10:75610371-Alternative-T;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Reference G tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACAACGGTAGTT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAacaacggtagttAGATCGAGACCCGACGC chr10:75610371-Reference-G;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Reference G tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ATAACAAGCGGT CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAataacaagcggtAGATCGAGACCCGACGC chr10:75610371-Reference-G;Patient-99 chr10:75610371-GA DeNovo Patient-99 intronic CAMK2G NA 4.95e-05 0.02 2.93 0.56 CAMK2G 23977 Reference G tcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatat ACCGGTTCCAAC CGACGCGGTCTCTCTCTtcacaacaaggaagtacctggcctaaaacgttagtagcaccaaggctgagGaacttggcctagaatatagacccccgtcatcaggcactatctggtatatAGAGGGAGACGGACGTCTCAATAAaccggttccaacAGATCGAGACCCGACGC chr10:75610371-Reference-G;Patient-99 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative C gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CAAGTTACACGT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAcaagttacacgtAGATCGAGACCCGACGC chr10:75611434-Alternative-C;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Reference T gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CATCTTGTGGTT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAcatcttgtggttAGATCGAGACCCGACGC chr10:75611434-Reference-T;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative C gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GTAGATAGCGAT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgtagatagcgatAGATCGAGACCCGACGC chr10:75611434-Alternative-C;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative C gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CTGGTGTAGCGT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAActggtgtagcgtAGATCGAGACCCGACGC chr10:75611434-Alternative-C;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative C gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca AAGTGGCATCGG CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAaagtggcatcggAGATCGAGACCCGACGC chr10:75611434-Alternative-C;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative C gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GGCGGTATAATT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagCatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAggcggtataattAGATCGAGACCCGACGC chr10:75611434-Alternative-C;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative A gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GACAACGATCCA CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgacaacgatccaAGATCGAGACCCGACGC chr10:75611434-Alternative-A;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative A gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca ACGCCACTAACA CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAacgccactaacaAGATCGAGACCCGACGC chr10:75611434-Alternative-A;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative A gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca ACGAGTAACGAG CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAacgagtaacgagAGATCGAGACCCGACGC chr10:75611434-Alternative-A;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative A gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GCCGGTGAACTA CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgccggtgaactaAGATCGAGACCCGACGC chr10:75611434-Alternative-A;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Variant G gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GTACAAGGAACT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgtacaaggaactAGATCGAGACCCGACGC chr10:75611434-Variant-G;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Alternative A gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CTATATCGACCT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagAatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAActatatcgacctAGATCGAGACCCGACGC chr10:75611434-Alternative-A;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Variant G gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CTTGAGGTGTCG CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAActtgaggtgtcgAGATCGAGACCCGACGC chr10:75611434-Variant-G;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Variant G gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca ACTCAAGTGACG CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAactcaagtgacgAGATCGAGACCCGACGC chr10:75611434-Variant-G;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Reference T gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca ACTGTGTTCGTT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAactgtgttcgttAGATCGAGACCCGACGC chr10:75611434-Reference-T;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Variant G gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CGGACAGACAAG CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAcggacagacaagAGATCGAGACCCGACGC chr10:75611434-Variant-G;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Reference T gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GCAAGGCGTCTA CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgcaaggcgtctaAGATCGAGACCCGACGC chr10:75611434-Reference-T;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Reference T gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CGCATCTTCGCA CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAcgcatcttcgcaAGATCGAGACCCGACGC chr10:75611434-Reference-T;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Variant G gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca CATTGAGTCTGT CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagGatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAcattgagtctgtAGATCGAGACCCGACGC chr10:75611434-Variant-G;Patient-30 chr10:75611434-TG Inherited Patient-30 intronic CAMK2G NA 4.95e-05 NA NA NA CAMK2G 22914 Reference T gagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaaca GTGTAGCACATC CGACGCGGTCTCTCTCTgagggggacattgggcatggtggcgagtacatggtagtgcaaaaaaaaagTatttctggggtcacagggtaaaggagacttggaaaagctttgtaaaacaAGAGGGAGACGGACGTCTCAATAAgtgtagcacatcAGATCGAGACCCGACGC chr10:75611434-Reference-T;Patient-30 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative C tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GTTGTGATGAGA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgttgtgatgagaAGATCGAGACCCGACGC chr10:75697316-Alternative-C;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative C tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACTGTGCGACGA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAactgtgcgacgaAGATCGAGACCCGACGC chr10:75697316-Alternative-C;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Reference A tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACTTCGACATGA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAacttcgacatgaAGATCGAGACCCGACGC chr10:75697316-Reference-A;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Reference A tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACGGCCTTAGGT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAacggccttaggtAGATCGAGACCCGACGC chr10:75697316-Reference-A;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative C tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt CTGTTAGAAGCT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAActgttagaagctAGATCGAGACCCGACGC chr10:75697316-Alternative-C;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative C tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GGACATATAACG CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAggacatataacgAGATCGAGACCCGACGC chr10:75697316-Alternative-C;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative C tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACCGAATCTCGA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaCaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAaccgaatctcgaAGATCGAGACCCGACGC chr10:75697316-Alternative-C;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Reference A tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt AGAATGGATTCG CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAagaatggattcgAGATCGAGACCCGACGC chr10:75697316-Reference-A;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Reference A tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACGGCCGTAAGT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAacggccgtaagtAGATCGAGACCCGACGC chr10:75697316-Reference-A;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative T tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GCGGCCAATCTT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgcggccaatcttAGATCGAGACCCGACGC chr10:75697316-Alternative-T;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative T tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GTCGATTAGCCA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgtcgattagccaAGATCGAGACCCGACGC chr10:75697316-Alternative-T;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Variant G tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt CGTACCACAATT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAcgtaccacaattAGATCGAGACCCGACGC chr10:75697316-Variant-G;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Variant G tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt CGGAACTTCGCA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAcggaacttcgcaAGATCGAGACCCGACGC chr10:75697316-Variant-G;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Variant G tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt AGAGTAACAGCG CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAagagtaacagcgAGATCGAGACCCGACGC chr10:75697316-Variant-G;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative T tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GTCATACGCTTA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgtcatacgcttaAGATCGAGACCCGACGC chr10:75697316-Alternative-T;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Variant G tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GGTATGAGTTCA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAggtatgagttcaAGATCGAGACCCGACGC chr10:75697316-Variant-G;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Variant G tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt CTCGGAATCGCT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaGaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAActcggaatcgctAGATCGAGACCCGACGC chr10:75697316-Variant-G;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Reference A tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GATGGCTCGTGT CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaAaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgatggctcgtgtAGATCGAGACCCGACGC chr10:75697316-Reference-A;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative T tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt GTCATAGCTAAG CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAgtcatagctaagAGATCGAGACCCGACGC chr10:75697316-Alternative-T;Patient-39 chr10:75697316-AG DeNovo Patient-39 intergenic NA 0.000513 -0.22 0.64 -5.6 VCL 60555 Alternative T tgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggtt ACGTTCTTGGAA CGACGCGGTCTCTCTCTtgtgcagatgtggttggggagtcatggttcagctgtcagcttctggtggaTaagggataccaaaaagagcggcatagtggacatccaggttatggtggttAGAGGGAGACGGACGTCTCAATAAacgttcttggaaAGATCGAGACCCGACGC chr10:75697316-Alternative-T;Patient-39 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative C ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGAGCTCTAATA CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgagctctaataAGATCGAGACCCGACGC chr10:75723260-Alternative-C;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative C ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGTCACGTCACT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgtcacgtcactAGATCGAGACCCGACGC chr10:75723260-Alternative-C;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative C ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggt GTACTGCGAATT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgtactgcgaattAGATCGAGACCCGACGC chr10:75723260-Alternative-C;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative C ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGATTAGACGTT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgattagacgttAGATCGAGACCCGACGC chr10:75723260-Alternative-C;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative C ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggt GTATACGGAGCG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacCccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgtatacggagcgAGATCGAGACCCGACGC chr10:75723260-Alternative-C;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Variant A ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggt GTTCTGCACATT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgttctgcacattAGATCGAGACCCGACGC chr10:75723260-Variant-A;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Variant A ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggt GTCGCCGTTAAG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgtcgccgttaagAGATCGAGACCCGACGC chr10:75723260-Variant-A;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Variant A ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGCCTAGGTAGA CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgcctaggtagaAGATCGAGACCCGACGC chr10:75723260-Variant-A;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Variant A ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggt GATTGTCCGACG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgattgtccgacgAGATCGAGACCCGACGC chr10:75723260-Variant-A;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Variant A ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGTGGTCTTACG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacAccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgtggtcttacgAGATCGAGACCCGACGC chr10:75723260-Variant-A;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative T ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggt GGACTCTGGCAT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAggactctggcatAGATCGAGACCCGACGC chr10:75723260-Alternative-T;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative T ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggt CGCAACAAGATA CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAcgcaacaagataAGATCGAGACCCGACGC chr10:75723260-Alternative-T;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative T ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggt CTCACATCACAT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAActcacatcacatAGATCGAGACCCGACGC chr10:75723260-Alternative-T;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative T ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggt ACAATTAACCGG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAacaattaaccggAGATCGAGACCCGACGC chr10:75723260-Alternative-T;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Alternative T ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggt GCAGAACGCTAT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacTccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgcagaacgctatAGATCGAGACCCGACGC chr10:75723260-Alternative-T;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Reference G ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggt GCATGACATCGA CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgcatgacatcgaAGATCGAGACCCGACGC chr10:75723260-Reference-G;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Reference G ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggt AGAAGATCGCGT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAagaagatcgcgtAGATCGAGACCCGACGC chr10:75723260-Reference-G;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Reference G ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggt GAGCCTTCTTAT CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgagccttcttatAGATCGAGACCCGACGC chr10:75723260-Reference-G;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Reference G ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggt ACGATTCACAAC CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAacgattcacaacAGATCGAGACCCGACGC chr10:75723260-Reference-G;Patient-30 chr10:75723260-GA Inherited Patient-30 intergenic 0.000766 0.000513 NA NA NA VCL 34611 Reference G ctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggt GTTCCAGCTAGG CGACGCGGTCTCTCTCTctcctgcctcgatctgccaagtagctgggattacaggcatgtgccaccacGccctgctaattttgtatttttagtagagacagggtttctccatgttggtAGAGGGAGACGGACGTCTCAATAAgttccagctaggAGATCGAGACCCGACGC chr10:75723260-Reference-G;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Variant C tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag CTCTCAACGAAG CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAActctcaacgaagAGATCGAGACCCGACGC chr10:75814381-Variant-C;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Variant C tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GGACTTCAGGCA CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAggacttcaggcaAGATCGAGACCCGACGC chr10:75814381-Variant-C;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Variant C tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GGATGGACTATC CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAggatggactatcAGATCGAGACCCGACGC chr10:75814381-Variant-C;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Variant C tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag ACTGTGCGGCAT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAactgtgcggcatAGATCGAGACCCGACGC chr10:75814381-Variant-C;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Variant C tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag CAAGTTCGCCAC CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaCaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAcaagttcgccacAGATCGAGACCCGACGC chr10:75814381-Variant-C;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative A tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GTCTCTCGCGAA CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAgtctctcgcgaaAGATCGAGACCCGACGC chr10:75814381-Alternative-A;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative A tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag AGACGGCGCTAT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAagacggcgctatAGATCGAGACCCGACGC chr10:75814381-Alternative-A;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative A tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GATGTTGGATGA CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAgatgttggatgaAGATCGAGACCCGACGC chr10:75814381-Alternative-A;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative A tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag AACGTCGACGCT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAaacgtcgacgctAGATCGAGACCCGACGC chr10:75814381-Alternative-A;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative A tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag AGGCGCGATTGT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaAaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAaggcgcgattgtAGATCGAGACCCGACGC chr10:75814381-Alternative-A;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Reference T tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GGAGATGATTGT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAggagatgattgtAGATCGAGACCCGACGC chr10:75814381-Reference-T;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Reference T tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag CGCTTACCACGT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAcgcttaccacgtAGATCGAGACCCGACGC chr10:75814381-Reference-T;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Reference T tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag AACCGTTGCATT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAaaccgttgcattAGATCGAGACCCGACGC chr10:75814381-Reference-T;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Reference T tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GGTGTCCATCGA CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAggtgtccatcgaAGATCGAGACCCGACGC chr10:75814381-Reference-T;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Reference T tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag AAGGTAGAGTCT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaTaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAaaggtagagtctAGATCGAGACCCGACGC chr10:75814381-Reference-T;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative G tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GTTACTACGCAA CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAgttactacgcaaAGATCGAGACCCGACGC chr10:75814381-Alternative-G;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative G tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag ACTTCGAGTCGG CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAacttcgagtcggAGATCGAGACCCGACGC chr10:75814381-Alternative-G;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative G tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag GTGTTAACGGAC CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAgtgttaacggacAGATCGAGACCCGACGC chr10:75814381-Alternative-G;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative G tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag CAATAGTTCTGG CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAcaatagttctggAGATCGAGACCCGACGC chr10:75814381-Alternative-G;Patient-30 chr10:75814381-TC Inherited Patient-30 intronic VCL 0.000669 4.95e-05 NA NA NA VCL 56508 Alternative G tgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctag ATTCATGGCGAT CGACGCGGTCTCTCTCTtgtagaacagtgattgcctactttttttcagcataaggacctttaagtaaGaatagtgaaattttaggctgggcgtggtggctcacgcctttaatcctagAGAGGGAGACGGACGTCTCAATAAattcatggcgatAGATCGAGACCCGACGC chr10:75814381-Alternative-G;Patient-30 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Variant G aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt AGTAAGTAGTCG CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAagtaagtagtcgAGATCGAGACCCGACGC chr10:75996958-Variant-G;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Variant G aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GCATTGGAGCGA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAgcattggagcgaAGATCGAGACCCGACGC chr10:75996958-Variant-G;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Variant G aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt CACATCGAATCA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAcacatcgaatcaAGATCGAGACCCGACGC chr10:75996958-Variant-G;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Variant G aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt ATAGGAAGACGA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAataggaagacgaAGATCGAGACCCGACGC chr10:75996958-Variant-G;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Variant G aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GCGTGGAACGAA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaGcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAgcgtggaacgaaAGATCGAGACCCGACGC chr10:75996958-Variant-G;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Reference A aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GATAATCCGTGA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAgataatccgtgaAGATCGAGACCCGACGC chr10:75996958-Reference-A;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative T aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt ACTTGGATACAC CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAacttggatacacAGATCGAGACCCGACGC chr10:75996958-Alternative-T;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative T aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt CTTGGAATTGGT CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAActtggaattggtAGATCGAGACCCGACGC chr10:75996958-Alternative-T;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative T aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt AGGTGACTATGA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAaggtgactatgaAGATCGAGACCCGACGC chr10:75996958-Alternative-T;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Reference A aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt ACGAATAACGAC CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAacgaataacgacAGATCGAGACCCGACGC chr10:75996958-Reference-A;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Reference A aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt AACGACGTTATC CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAaacgacgttatcAGATCGAGACCCGACGC chr10:75996958-Reference-A;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative T aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt ATCGCAGCTGGT CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAatcgcagctggtAGATCGAGACCCGACGC chr10:75996958-Alternative-T;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Reference A aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GGCGTGCTAACA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAggcgtgctaacaAGATCGAGACCCGACGC chr10:75996958-Reference-A;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative T aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GGCTAGCGCTAA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaTcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAggctagcgctaaAGATCGAGACCCGACGC chr10:75996958-Alternative-T;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Reference A aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt ACTAAGTCGGAA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaActtaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAactaagtcggaaAGATCGAGACCCGACGC chr10:75996958-Reference-A;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative C aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt AAGCGCGACAAC CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAaagcgcgacaacAGATCGAGACCCGACGC chr10:75996958-Alternative-C;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative C aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GGTGACATCTAT CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAggtgacatctatAGATCGAGACCCGACGC chr10:75996958-Alternative-C;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative C aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt CTTACGGACGCA CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAActtacggacgcaAGATCGAGACCCGACGC chr10:75996958-Alternative-C;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative C aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GTTAGCTACGAC CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAgttagctacgacAGATCGAGACCCGACGC chr10:75996958-Alternative-C;Patient-55 chr10:75996958-AG DeNovo Patient-55 intronic ADK 0.000605 0.000198 0.08 3.91 0.42 ADK 86014 Alternative C aatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgt GATGATCATCGT CGACGCGGTCTCTCTCTaatttggaaaattggagtcagtcctctcaaaccatgctgttactttatcaCcttaagtttatggaatattcaaaattctttgttgtcatttcagcagtgtAGAGGGAGACGGACGTCTCAATAAgatgatcatcgtAGATCGAGACCCGACGC chr10:75996958-Alternative-C;Patient-55 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Reference G tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ATAAGGCCATAC CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAataaggccatacAGATCGAGACCCGACGC chr10:76004089-Reference-G;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Reference G tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt GGACGAATATAC CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAggacgaatatacAGATCGAGACCCGACGC chr10:76004089-Reference-G;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Reference G tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt GTTCGTGAATCA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAgttcgtgaatcaAGATCGAGACCCGACGC chr10:76004089-Reference-G;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Reference G tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt AGATACCGCCTA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAagataccgcctaAGATCGAGACCCGACGC chr10:76004089-Reference-G;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative C tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ATTACTTGCGCT CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAattacttgcgctAGATCGAGACCCGACGC chr10:76004089-Alternative-C;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative C tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ATCCTCATGGAA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAatcctcatggaaAGATCGAGACCCGACGC chr10:76004089-Alternative-C;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative T tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt AGCTCTATACCA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAagctctataccaAGATCGAGACCCGACGC chr10:76004089-Alternative-T;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Variant A tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt GGTGATAAGTGT CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAggtgataagtgtAGATCGAGACCCGACGC chr10:76004089-Variant-A;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Variant A tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt AGCCGTACCTGT CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAagccgtacctgtAGATCGAGACCCGACGC chr10:76004089-Variant-A;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative C tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt GAGTCATAGTAC CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAgagtcatagtacAGATCGAGACCCGACGC chr10:76004089-Alternative-C;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative T tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt CAGCGCGACTTA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAcagcgcgacttaAGATCGAGACCCGACGC chr10:76004089-Alternative-T;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Variant A tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ACTATAACGCCA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAactataacgccaAGATCGAGACCCGACGC chr10:76004089-Variant-A;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative T tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt CTAACAGTAGCG CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAActaacagtagcgAGATCGAGACCCGACGC chr10:76004089-Alternative-T;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative T tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt AGCGCTAGTAGG CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAagcgctagtaggAGATCGAGACCCGACGC chr10:76004089-Alternative-T;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Variant A tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ATAGAGCGGTCC CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAatagagcggtccAGATCGAGACCCGACGC chr10:76004089-Variant-A;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative C tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt AATACCGGAGAT CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAaataccggagatAGATCGAGACCCGACGC chr10:76004089-Alternative-C;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Variant A tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt CGCTGCAACACT CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataAaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAcgctgcaacactAGATCGAGACCCGACGC chr10:76004089-Variant-A;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative C tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt ATATGGCCGATA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataCaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAatatggccgataAGATCGAGACCCGACGC chr10:76004089-Alternative-C;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Reference G tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt CTTGGATTCCTA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataGaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAActtggattcctaAGATCGAGACCCGACGC chr10:76004089-Reference-G;Patient-75 chr10:76004089-GA DeNovo Patient-75 intronic ADK NA 4.95e-05 0.25 6.58 -2.69 ADK 93145 Alternative T tgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtattt CATTCAGTCGAA CGACGCGGTCTCTCTCTtgctatttcgcctgttttatctgcgacaataagtaggaaaaatgaatataTaacttcaaaaaagtgtatggaagatctagaatatttgggcattgtatttAGAGGGAGACGGACGTCTCAATAAcattcagtcgaaAGATCGAGACCCGACGC chr10:76004089-Alternative-T;Patient-75 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative G tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CTCGGAAGTTCT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAActcggaagttctAGATCGAGACCCGACGC chr10:76486974-Alternative-G;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative G tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa AAGCGCCTGGAA CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAaagcgcctggaaAGATCGAGACCCGACGC chr10:76486974-Alternative-G;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Reference A tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTGTCGCTATGG CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgtgtcgctatggAGATCGAGACCCGACGC chr10:76486974-Reference-A;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Reference A tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CAATTGAGTAGG CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcaattgagtaggAGATCGAGACCCGACGC chr10:76486974-Reference-A;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Variant C tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa ACTCAAGTACGT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAactcaagtacgtAGATCGAGACCCGACGC chr10:76486974-Variant-C;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Variant C tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GGTTAGGTACGG CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAggttaggtacggAGATCGAGACCCGACGC chr10:76486974-Variant-C;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Reference A tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTTGACGATATC CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgttgacgatatcAGATCGAGACCCGACGC chr10:76486974-Reference-A;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative G tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CGCATTGGAATC CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcgcattggaatcAGATCGAGACCCGACGC chr10:76486974-Alternative-G;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Variant C tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTAAGCGCAATT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgtaagcgcaattAGATCGAGACCCGACGC chr10:76486974-Variant-C;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Variant C tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa ACGAACACCATC CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAacgaacaccatcAGATCGAGACCCGACGC chr10:76486974-Variant-C;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Variant C tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CGAGTCTGGCTA CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaCaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcgagtctggctaAGATCGAGACCCGACGC chr10:76486974-Variant-C;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative T tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTACGCGATATC CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgtacgcgatatcAGATCGAGACCCGACGC chr10:76486974-Alternative-T;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative G tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CAGCACATTCTT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcagcacattcttAGATCGAGACCCGACGC chr10:76486974-Alternative-G;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative T tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CGCCGACTAATA CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcgccgactaataAGATCGAGACCCGACGC chr10:76486974-Alternative-T;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative T tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa CGGTAGCCAATT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAcggtagccaattAGATCGAGACCCGACGC chr10:76486974-Alternative-T;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Reference A tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTTCGCATGACC CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgttcgcatgaccAGATCGAGACCCGACGC chr10:76486974-Reference-A;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Reference A tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GCACGCGTAAGA CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaAaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgcacgcgtaagaAGATCGAGACCCGACGC chr10:76486974-Reference-A;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative T tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GGTACCTATCAG CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAggtacctatcagAGATCGAGACCCGACGC chr10:76486974-Alternative-T;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative G tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa GTTCCTAATGCT CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaGaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAgttcctaatgctAGATCGAGACCCGACGC chr10:76486974-Alternative-G;Patient-17 chr10:76486974-AC Inherited Patient-17 intergenic 6.4e-05 0.00103 1.04 13.54 0.35 KAT6B 99196 Alternative T tctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaa AGAATCAGCCGG CGACGCGGTCTCTCTCTtctctaaaagaaaaatcattcattataattcaccatattaacaaagtaaaTaagaaaaccatatgattatcttgatagacacagaaaagcgtttgacaaaAGAGGGAGACGGACGTCTCAATAAagaatcagccggAGATCGAGACCCGACGC chr10:76486974-Alternative-T;Patient-17 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Reference G tattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ATCTATGGCCGC CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAatctatggccgcAGATCGAGACCCGACGC chr10:76643888-Reference-G;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative C tattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GCGCGAGTCAAT CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgcgcgagtcaatAGATCGAGACCCGACGC chr10:76643888-Alternative-C;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Variant A tattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg CATGCGGAACGT CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAcatgcggaacgtAGATCGAGACCCGACGC chr10:76643888-Variant-A;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Variant A tattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GCGTCAATAAGA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgcgtcaataagaAGATCGAGACCCGACGC chr10:76643888-Variant-A;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative C tattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg AGACGACCACGA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAagacgaccacgaAGATCGAGACCCGACGC chr10:76643888-Alternative-C;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative C tattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GACTACAAGACA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgactacaagacaAGATCGAGACCCGACGC chr10:76643888-Alternative-C;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Variant A tattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GATTGTCAGACA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgattgtcagacaAGATCGAGACCCGACGC chr10:76643888-Variant-A;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Variant A tattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ACGCGTTCTCCT CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAacgcgttctcctAGATCGAGACCCGACGC chr10:76643888-Variant-A;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Reference G tattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg AACACGATCAAG CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAaacacgatcaagAGATCGAGACCCGACGC chr10:76643888-Reference-G;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative T tattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ACTTCCGTGGAG CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAacttccgtggagAGATCGAGACCCGACGC chr10:76643888-Alternative-T;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative C tattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GCAGTTCGATGA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgcagttcgatgaAGATCGAGACCCGACGC chr10:76643888-Alternative-C;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative C tattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ATACGTCGAGAA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaCcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAatacgtcgagaaAGATCGAGACCCGACGC chr10:76643888-Alternative-C;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative T tattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GGACGCTTGATA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAggacgcttgataAGATCGAGACCCGACGC chr10:76643888-Alternative-T;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Reference G tattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg CTATGTCGTCGC CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAActatgtcgtcgcAGATCGAGACCCGACGC chr10:76643888-Reference-G;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Variant A tattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ACCTGTGGATTA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaAcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAacctgtggattaAGATCGAGACCCGACGC chr10:76643888-Variant-A;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Reference G tattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GACCTGCGACTA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgacctgcgactaAGATCGAGACCCGACGC chr10:76643888-Reference-G;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative T tattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ACTAAGGACGGC CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAactaaggacggcAGATCGAGACCCGACGC chr10:76643888-Alternative-T;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Reference G tattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg ACGCCTATGAAC CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaGcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAacgcctatgaacAGATCGAGACCCGACGC chr10:76643888-Reference-G;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative T tattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg CAATGAGTCGAA CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAcaatgagtcgaaAGATCGAGACCCGACGC chr10:76643888-Alternative-T;Patient-55 chr10:76643888-GA Inherited Patient-55 intronic KAT6B NA 4.95e-05 -0.23 0.58 -3.42 KAT6B 57716 Alternative T tattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatg GACGTCCTAGGT CGACGCGGTCTCTCTCTtattccaacatatatactcacttcacatattcatagacaccttccacctaTcatcaaattctgaactcatagaagacttaggtgtttttggttttgtatgAGAGGGAGACGGACGTCTCAATAAgacgtcctaggtAGATCGAGACCCGACGC chr10:76643888-Alternative-T;Patient-55 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative G acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc ACGTCGACGGTT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAacgtcgacggttAGATCGAGACCCGACGC chr10:77188087-Alternative-G;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative G acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc CTGCTGTGATAA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAActgctgtgataaAGATCGAGACCCGACGC chr10:77188087-Alternative-G;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative G acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AAGCGTATAGCT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAaagcgtatagctAGATCGAGACCCGACGC chr10:77188087-Alternative-G;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative G acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc CAGTACGTTGAC CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAcagtacgttgacAGATCGAGACCCGACGC chr10:77188087-Alternative-G;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative T acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc CATCGGTATAAG CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAcatcggtataagAGATCGAGACCCGACGC chr10:77188087-Alternative-T;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative T acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc GTAGAGGATCAT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAgtagaggatcatAGATCGAGACCCGACGC chr10:77188087-Alternative-T;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative G acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc CTCTATGGTGAA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtGcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAActctatggtgaaAGATCGAGACCCGACGC chr10:77188087-Alternative-G;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative T acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc GACAACAGGTCG CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAgacaacaggtcgAGATCGAGACCCGACGC chr10:77188087-Alternative-T;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative T acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc GGTAGCCTACGA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAggtagcctacgaAGATCGAGACCCGACGC chr10:77188087-Alternative-T;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Alternative T acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AATGCAATCGAG CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtTcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAaatgcaatcgagAGATCGAGACCCGACGC chr10:77188087-Alternative-T;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Variant A acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AGGTGCGGTAGA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAaggtgcggtagaAGATCGAGACCCGACGC chr10:77188087-Variant-A;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Variant A acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AGAGTAGTGGTT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAagagtagtggttAGATCGAGACCCGACGC chr10:77188087-Variant-A;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Variant A acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc GGCGTGAATTAA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAggcgtgaattaaAGATCGAGACCCGACGC chr10:77188087-Variant-A;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Variant A acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc ACCTCGTTGTGC CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAacctcgttgtgcAGATCGAGACCCGACGC chr10:77188087-Variant-A;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Variant A acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc CGTGCTTGTCGT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtAcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAcgtgcttgtcgtAGATCGAGACCCGACGC chr10:77188087-Variant-A;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Reference C acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc ACCTCATTGGAA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAacctcattggaaAGATCGAGACCCGACGC chr10:77188087-Reference-C;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Reference C acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc ATAATCGGACGT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAataatcggacgtAGATCGAGACCCGACGC chr10:77188087-Reference-C;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Reference C acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AGTACGTGTAGA CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAagtacgtgtagaAGATCGAGACCCGACGC chr10:77188087-Reference-C;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Reference C acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc ACGTGGTACCTT CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAacgtggtaccttAGATCGAGACCCGACGC chr10:77188087-Reference-C;Patient-87 chr10:77188087-CA DeNovo Patient-87 intergenic NA 0.000513 0.1 4.27 -0.7 ZNF503 26573 Reference C acaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctc AGTTCACACGGC CGACGCGGTCTCTCTCTacaataggaataaaatattgccctcttcatcaagggcgataagagaatgtCcagttgtatgagttgaaccttgttgctctctatgtgcccgtcagagctcAGAGGGAGACGGACGTCTCAATAAagttcacacggcAGATCGAGACCCGACGC chr10:77188087-Reference-C;Patient-87 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative T cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa AGCATGACGGCA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAagcatgacggcaAGATCGAGACCCGACGC chr10:79325706-Alternative-T;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Variant A cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa AGCCGAATAGGT CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAagccgaataggtAGATCGAGACCCGACGC chr10:79325706-Variant-A;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative C cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa AAGTTCACGCAA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAaagttcacgcaaAGATCGAGACCCGACGC chr10:79325706-Alternative-C;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative C cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GGCTGATCTTAA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAggctgatcttaaAGATCGAGACCCGACGC chr10:79325706-Alternative-C;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative C cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GGCTAATAGGCG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAggctaataggcgAGATCGAGACCCGACGC chr10:79325706-Alternative-C;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative T cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa CTAGCGCTCTGA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAActagcgctctgaAGATCGAGACCCGACGC chr10:79325706-Alternative-T;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Reference G cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa CTGAGCACTCAA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAActgagcactcaaAGATCGAGACCCGACGC chr10:79325706-Reference-G;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Variant A cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GGCTTGGACGTT CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAggcttggacgttAGATCGAGACCCGACGC chr10:79325706-Variant-A;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative T cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa ACCATGTTGGAC CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAaccatgttggacAGATCGAGACCCGACGC chr10:79325706-Alternative-T;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Variant A cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa CGAATGTCGTCA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAcgaatgtcgtcaAGATCGAGACCCGACGC chr10:79325706-Variant-A;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Variant A cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa ACGATCTGGTCG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAacgatctggtcgAGATCGAGACCCGACGC chr10:79325706-Variant-A;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative C cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa ACGTCACGCGTT CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAacgtcacgcgttAGATCGAGACCCGACGC chr10:79325706-Alternative-C;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Variant A cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa AAGACTATGACG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcActttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAaagactatgacgAGATCGAGACCCGACGC chr10:79325706-Variant-A;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Reference G cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GCCTTACCACGT CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAgccttaccacgtAGATCGAGACCCGACGC chr10:79325706-Reference-G;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative T cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa ACTCTCGTCTGG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAactctcgtctggAGATCGAGACCCGACGC chr10:79325706-Alternative-T;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative C cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa AACTCCGAGTTA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcCctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAaactccgagttaAGATCGAGACCCGACGC chr10:79325706-Alternative-C;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Alternative T cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa ATAGCGAGGCGA CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcTctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAatagcgaggcgaAGATCGAGACCCGACGC chr10:79325706-Alternative-T;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Reference G cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GAATCAACGGCG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAgaatcaacggcgAGATCGAGACCCGACGC chr10:79325706-Reference-G;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Reference G cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa CTGGTTGATCGG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAActggttgatcggAGATCGAGACCCGACGC chr10:79325706-Reference-G;Patient-67 chr10:79325706-GA DeNovo Patient-67 intronic KCNMA1 9.6e-05 3.92e-05 -0.25 0.5 -1.58 KCNMA1 71870 Reference G cagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaa GTTATTAGGTCG CGACGCGGTCTCTCTCTcagccctaacgctctcaccagggacacacagaacaagccagtgcctcctcGctttacagaccatcagaaatgcaaaggcagttgctgtgcctccacggaaAGAGGGAGACGGACGTCTCAATAAgttattaggtcgAGATCGAGACCCGACGC chr10:79325706-Reference-G;Patient-67 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative G tgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CATCACGAGCAT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcatcacgagcatAGATCGAGACCCGACGC chr10:79721104-Alternative-G;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Variant T tgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CGTCGTTCATAT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcgtcgttcatatAGATCGAGACCCGACGC chr10:79721104-Variant-T;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Variant T tgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa ACCGTTCGTCGT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAaccgttcgtcgtAGATCGAGACCCGACGC chr10:79721104-Variant-T;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Variant T tgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CGGTCTAAGGCA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcggtctaaggcaAGATCGAGACCCGACGC chr10:79721104-Variant-T;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative G tgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GTAGCGGCGATT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgtagcggcgattAGATCGAGACCCGACGC chr10:79721104-Alternative-G;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative G tgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa AGCATTCGTGCG CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAagcattcgtgcgAGATCGAGACCCGACGC chr10:79721104-Alternative-G;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative A tgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa ACTTCAACCAGA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAacttcaaccagaAGATCGAGACCCGACGC chr10:79721104-Alternative-A;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative A tgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GGTTGAACGGCA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAggttgaacggcaAGATCGAGACCCGACGC chr10:79721104-Alternative-A;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative A tgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa ATTACGCGGAGA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAattacgcggagaAGATCGAGACCCGACGC chr10:79721104-Alternative-A;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative G tgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GCACGCTAACAG CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgcacgctaacagAGATCGAGACCCGACGC chr10:79721104-Alternative-G;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Reference C tgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GCAGGATTACCA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgcaggattaccaAGATCGAGACCCGACGC chr10:79721104-Reference-C;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative A tgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GTACGCTTCGAA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgtacgcttcgaaAGATCGAGACCCGACGC chr10:79721104-Alternative-A;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Reference C tgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa AACGACGAAGAA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAaacgacgaagaaAGATCGAGACCCGACGC chr10:79721104-Reference-C;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Variant T tgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CGAACTAGGTCG CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcgaactaggtcgAGATCGAGACCCGACGC chr10:79721104-Variant-T;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Variant T tgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GCAGCAGTTCGT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccTcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgcagcagttcgtAGATCGAGACCCGACGC chr10:79721104-Variant-T;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Reference C tgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa GCGTATGCACCA CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAgcgtatgcaccaAGATCGAGACCCGACGC chr10:79721104-Reference-C;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative A tgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CGTCACGCTTGT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccAcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcgtcacgcttgtAGATCGAGACCCGACGC chr10:79721104-Alternative-A;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Reference C tgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CTGGTAGGATGT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAActggtaggatgtAGATCGAGACCCGACGC chr10:79721104-Reference-C;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Reference C tgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CTCATAATGCGT CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccCcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAActcataatgcgtAGATCGAGACCCGACGC chr10:79721104-Reference-C;Patient-37 chr10:79721104-CT Inherited Patient-37 intergenic NA 0.000513 -0.29 0.4 -0.92 POLR3A 68193 Alternative G tgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaa CAGCATACGTGC CGACGCGGTCTCTCTCTtgatactttaataaaattgacttgaaatatacatacagccgcccactaccGcaaacaaaagagaagggaagccttcctagaagttgatgtagtatctcaaAGAGGGAGACGGACGTCTCAATAAcagcatacgtgcAGATCGAGACCCGACGC chr10:79721104-Alternative-G;Patient-37 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative C caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc AGTACAGAACGT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAagtacagaacgtAGATCGAGACCCGACGC chr10:8038268-Alternative-C;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative C caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CACGCGACACTT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcacgcgacacttAGATCGAGACCCGACGC chr10:8038268-Alternative-C;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative C caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CGATCTGTCATA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcgatctgtcataAGATCGAGACCCGACGC chr10:8038268-Alternative-C;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative C caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CAAGTAACGACC CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcaagtaacgaccAGATCGAGACCCGACGC chr10:8038268-Alternative-C;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative C caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc ACATCGTGATCA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagCcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAacatcgtgatcaAGATCGAGACCCGACGC chr10:8038268-Alternative-C;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Variant A caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc GTCTAGTCAGAT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAgtctagtcagatAGATCGAGACCCGACGC chr10:8038268-Variant-A;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Variant A caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc ACGTCGCAGTGT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAacgtcgcagtgtAGATCGAGACCCGACGC chr10:8038268-Variant-A;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Variant A caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CATAATCTGTGG CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcataatctgtggAGATCGAGACCCGACGC chr10:8038268-Variant-A;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Reference G caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc ATACCACTTGCT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAataccacttgctAGATCGAGACCCGACGC chr10:8038268-Reference-G;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative T caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc AGTCGATTCGCG CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAagtcgattcgcgAGATCGAGACCCGACGC chr10:8038268-Alternative-T;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Reference G caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc GCCAATACGAAT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAgccaatacgaatAGATCGAGACCCGACGC chr10:8038268-Reference-G;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative T caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CGCAATCAAGTC CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcgcaatcaagtcAGATCGAGACCCGACGC chr10:8038268-Alternative-T;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Variant A caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc GCATCGTCTAGG CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAgcatcgtctaggAGATCGAGACCCGACGC chr10:8038268-Variant-A;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative T caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CGTTCGATTACA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcgttcgattacaAGATCGAGACCCGACGC chr10:8038268-Alternative-T;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative T caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc AAGGTGCGATGC CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAaaggtgcgatgcAGATCGAGACCCGACGC chr10:8038268-Alternative-T;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Reference G caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc AAGCAGCTAACT CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAaagcagctaactAGATCGAGACCCGACGC chr10:8038268-Reference-G;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Variant A caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CTCGCTATGTAA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagAcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAActcgctatgtaaAGATCGAGACCCGACGC chr10:8038268-Variant-A;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Alternative T caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CTCTTAGGTTCA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagTcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAActcttaggttcaAGATCGAGACCCGACGC chr10:8038268-Alternative-T;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Reference G caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc CATGCGTCATAA CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAcatgcgtcataaAGATCGAGACCCGACGC chr10:8038268-Reference-G;Patient-66 chr10:8038268-GA DeNovo Patient-66 intronic TAF3 3.2e-05 9.9e-05 0.31 7.38 2.62 GATA3 58398 Reference G caagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagcc AGCTTGATTGAG CGACGCGGTCTCTCTCTcaagctcacgcacagctgtcggcaggaggctccggggacctcttcataagGcagcttcagcatcctccccacagtgtagctggctgtccccatagaagccAGAGGGAGACGGACGTCTCAATAAagcttgattgagAGATCGAGACCCGACGC chr10:8038268-Reference-G;Patient-66 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative G gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgca AGTGTCGACTTA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAagtgtcgacttaAGATCGAGACCCGACGC chr10:81693969-Alternative-G;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Variant T gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgca GCCTGGAGGTAA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgcctggaggtaaAGATCGAGACCCGACGC chr10:81693969-Variant-T;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Reference C gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgca CGCCATTCCATA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAcgccattccataAGATCGAGACCCGACGC chr10:81693969-Reference-C;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Reference C gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgca GGCCATGCGTAA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAggccatgcgtaaAGATCGAGACCCGACGC chr10:81693969-Reference-C;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative A gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgca CGCATACTTCCT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAcgcatacttcctAGATCGAGACCCGACGC chr10:81693969-Alternative-A;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Reference C gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgca ACTTCATCGCGA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAacttcatcgcgaAGATCGAGACCCGACGC chr10:81693969-Reference-C;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Variant T gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgca AACGATAGGTAC CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAaacgataggtacAGATCGAGACCCGACGC chr10:81693969-Variant-T;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Variant T gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgca GTATTAAGCGCA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgtattaagcgcaAGATCGAGACCCGACGC chr10:81693969-Variant-T;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative A gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgca ACGATGTACGAA CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAacgatgtacgaaAGATCGAGACCCGACGC chr10:81693969-Alternative-A;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Variant T gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgca GACTGGTTCGGT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgactggttcggtAGATCGAGACCCGACGC chr10:81693969-Variant-T;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative G gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgca AGTATATCTGCG CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAagtatatctgcgAGATCGAGACCCGACGC chr10:81693969-Alternative-G;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Variant T gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgca CGAGCATCGAAC CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatTtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAcgagcatcgaacAGATCGAGACCCGACGC chr10:81693969-Variant-T;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative G gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgca ACAGCGTCACGT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAacagcgtcacgtAGATCGAGACCCGACGC chr10:81693969-Alternative-G;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative A gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgca GCAACTAACGTT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgcaactaacgttAGATCGAGACCCGACGC chr10:81693969-Alternative-A;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative G gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgca GCATAGACCGTT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgcatagaccgttAGATCGAGACCCGACGC chr10:81693969-Alternative-G;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Reference C gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgca AATAAGCAACGC CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAaataagcaacgcAGATCGAGACCCGACGC chr10:81693969-Reference-C;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative G gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgca GACGGCTTCGAT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatGtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAgacggcttcgatAGATCGAGACCCGACGC chr10:81693969-Alternative-G;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative A gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgca CTACGGAGCGTT CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAActacggagcgttAGATCGAGACCCGACGC chr10:81693969-Alternative-A;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Reference C gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgca GGTCAACGAACG CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatCtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAggtcaacgaacgAGATCGAGACCCGACGC chr10:81693969-Reference-C;Patient-68 chr10:81693969-CT Inherited Patient-68 intergenic 0.000223 0.003076923 0 2.68 -0.77 SFTPD 14891 Alternative A gttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgca CATCTCGTTAGG CGACGCGGTCTCTCTCTgttatgttagggaagtgcaggatcacgagggcatgactagccatgtcaatAtttgtatccaatgcctggataaatatttgacatacagattaagactgcaAGAGGGAGACGGACGTCTCAATAAcatctcgttaggAGATCGAGACCCGACGC chr10:81693969-Alternative-A;Patient-68 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Reference C ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GCATGGCTTATT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcatggcttattAGATCGAGACCCGACGC chr10:82135915-Reference-C;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Reference C ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GCGTATGACGAG CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcgtatgacgagAGATCGAGACCCGACGC chr10:82135915-Reference-C;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Reference C ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GACGTACGTCAC CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgacgtacgtcacAGATCGAGACCCGACGC chr10:82135915-Reference-C;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative A ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GTTCCGCTATTA CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgttccgctattaAGATCGAGACCCGACGC chr10:82135915-Alternative-A;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Reference C ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CTGCATGAAGCG CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAActgcatgaagcgAGATCGAGACCCGACGC chr10:82135915-Reference-C;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Reference C ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc AACAACGGTAGG CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcCgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaacaacggtaggAGATCGAGACCCGACGC chr10:82135915-Reference-C;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative A ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CTATTGTTGCAC CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAActattgttgcacAGATCGAGACCCGACGC chr10:82135915-Alternative-A;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative A ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GGACCGTAACGA CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAggaccgtaacgaAGATCGAGACCCGACGC chr10:82135915-Alternative-A;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative G ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc AACAGCAAGCAT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaacagcaagcatAGATCGAGACCCGACGC chr10:82135915-Alternative-G;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative G ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CTTGCTGCCGAA CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAActtgctgccgaaAGATCGAGACCCGACGC chr10:82135915-Alternative-G;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative G ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GACTGGTCCTAA CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgactggtcctaaAGATCGAGACCCGACGC chr10:82135915-Alternative-G;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Variant T ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CGTCGAGGACTT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgtcgaggacttAGATCGAGACCCGACGC chr10:82135915-Variant-T;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Variant T ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GCGGTACAATAA CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcggtacaataaAGATCGAGACCCGACGC chr10:82135915-Variant-T;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative G ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc ACTTAGTCCGTT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAacttagtccgttAGATCGAGACCCGACGC chr10:82135915-Alternative-G;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Variant T ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc AGGAACAGCAGT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaggaacagcagtAGATCGAGACCCGACGC chr10:82135915-Variant-T;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative A ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CGGCTGTCTATC CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcggctgtctatcAGATCGAGACCCGACGC chr10:82135915-Alternative-A;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative A ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CTCGCTGAGAGT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcAgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAActcgctgagagtAGATCGAGACCCGACGC chr10:82135915-Alternative-A;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Variant T ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GTTACACGGTCG CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgttacacggtcgAGATCGAGACCCGACGC chr10:82135915-Variant-T;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Alternative G ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc CGTAATCGTAAC CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcGgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgtaatcgtaacAGATCGAGACCCGACGC chr10:82135915-Alternative-G;Patient-71 chr10:82135915-CT DeNovo Patient-71 intergenic 6.4e-05 0.001025641 -0.06 1.86 0.48 MAT1A 86480 Variant T ctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggc GCATACCTGGTT CGACGCGGTCTCTCTCTctggttaacacgtgaaaccctgtctctactaaaaatacaaaaaaattagcTgggtgtggtggcgggcgcctgtagtcccagctactcgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcatacctggttAGATCGAGACCCGACGC chr10:82135915-Variant-T;Patient-71 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Variant A agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CAAGCCGCAACA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAcaagccgcaacaAGATCGAGACCCGACGC chr10:83639274-Variant-A;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative C agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GAGTTATGGCTT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgagttatggcttAGATCGAGACCCGACGC chr10:83639274-Alternative-C;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Variant A agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggt ATAGCGCTAAGA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAatagcgctaagaAGATCGAGACCCGACGC chr10:83639274-Variant-A;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Variant A agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GCCGGCTATTCT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgccggctattctAGATCGAGACCCGACGC chr10:83639274-Variant-A;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative T agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggt ATAGCAATCCGA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAatagcaatccgaAGATCGAGACCCGACGC chr10:83639274-Alternative-T;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Reference G agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggt ACGTGCTTGCGA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAacgtgcttgcgaAGATCGAGACCCGACGC chr10:83639274-Reference-G;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Variant A agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GCGCTAGTACGA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgcgctagtacgaAGATCGAGACCCGACGC chr10:83639274-Variant-A;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Variant A agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CAATGCGGAGCT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaAtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAcaatgcggagctAGATCGAGACCCGACGC chr10:83639274-Variant-A;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative T agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggt AGGCGTATGACG CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAaggcgtatgacgAGATCGAGACCCGACGC chr10:83639274-Alternative-T;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative T agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggt ACGACGTAACAT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAacgacgtaacatAGATCGAGACCCGACGC chr10:83639274-Alternative-T;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Reference G agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CTGTGCTTAGAT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAActgtgcttagatAGATCGAGACCCGACGC chr10:83639274-Reference-G;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Reference G agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggt AAGGTAGTATCG CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAaaggtagtatcgAGATCGAGACCCGACGC chr10:83639274-Reference-G;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative T agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CAAGTCGCACGA CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAcaagtcgcacgaAGATCGAGACCCGACGC chr10:83639274-Alternative-T;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Reference G agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GATATGTTCGAC CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgatatgttcgacAGATCGAGACCCGACGC chr10:83639274-Reference-G;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative C agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CTAACTCTGCGC CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAActaactctgcgcAGATCGAGACCCGACGC chr10:83639274-Alternative-C;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative T agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GTGTCTGTGCAG CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaTtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgtgtctgtgcagAGATCGAGACCCGACGC chr10:83639274-Alternative-T;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative C agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggt CAGTTCTGCATT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAcagttctgcattAGATCGAGACCCGACGC chr10:83639274-Alternative-C;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Reference G agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GAGTATTCAAGG CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaGtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgagtattcaaggAGATCGAGACCCGACGC chr10:83639274-Reference-G;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative C agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggt AGTTCATGCGCG CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAagttcatgcgcgAGATCGAGACCCGACGC chr10:83639274-Alternative-C;Patient-55 chr10:83639274-GA Inherited Patient-55 intronic NRG3 NA 4.95e-05 0.99 13.25 3.04 NRG3 4203 Alternative C agaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggt GTGCTCCGCATT CGACGCGGTCTCTCTCTagaattcttttactaagctgaaaatactgtttaacaggtggtagcccggaCtcattggctaaattcaaatactaaagacaaagagcctctttttataggtAGAGGGAGACGGACGTCTCAATAAgtgctccgcattAGATCGAGACCCGACGC chr10:83639274-Alternative-C;Patient-55 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative T atattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccataga GTCGATGAGTGG CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAgtcgatgagtggAGATCGAGACCCGACGC chr10:88525407-Alternative-T;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative T atattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccataga GTGGCTACTCCT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAgtggctactcctAGATCGAGACCCGACGC chr10:88525407-Alternative-T;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative T atattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccataga GATACCTTGGAT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAgataccttggatAGATCGAGACCCGACGC chr10:88525407-Alternative-T;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative T atattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccataga CACGAACCTACA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAcacgaacctacaAGATCGAGACCCGACGC chr10:88525407-Alternative-T;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Variant G atattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccataga CTGCTATTGAGA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAActgctattgagaAGATCGAGACCCGACGC chr10:88525407-Variant-G;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Variant G atattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccataga AACGAATCCGAA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAaacgaatccgaaAGATCGAGACCCGACGC chr10:88525407-Variant-G;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Variant G atattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccataga CAACGATATCCT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAcaacgatatcctAGATCGAGACCCGACGC chr10:88525407-Variant-G;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Variant G atattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccataga ACCAAGCGTACG CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAaccaagcgtacgAGATCGAGACCCGACGC chr10:88525407-Variant-G;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Variant G atattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccataga ATCACGCCTGAC CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatGcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAatcacgcctgacAGATCGAGACCCGACGC chr10:88525407-Variant-G;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Reference A atattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccataga ATAACAAGTCGG CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAataacaagtcggAGATCGAGACCCGACGC chr10:88525407-Reference-A;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative T atattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccataga CGAACGTCGGAT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatTcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAcgaacgtcggatAGATCGAGACCCGACGC chr10:88525407-Alternative-T;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Reference A atattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccataga AAGTACTGACCT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAaagtactgacctAGATCGAGACCCGACGC chr10:88525407-Reference-A;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative C atattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccataga ACGAGCGACATT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAacgagcgacattAGATCGAGACCCGACGC chr10:88525407-Alternative-C;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Reference A atattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccataga CGAGTGGTTCAA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAcgagtggttcaaAGATCGAGACCCGACGC chr10:88525407-Reference-A;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Reference A atattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccataga ATAGGTGCGATA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAataggtgcgataAGATCGAGACCCGACGC chr10:88525407-Reference-A;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Reference A atattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccataga GCGGAGTGTACA CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatAcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAgcggagtgtacaAGATCGAGACCCGACGC chr10:88525407-Reference-A;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative C atattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccataga ATTCGACGTCGG CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAattcgacgtcggAGATCGAGACCCGACGC chr10:88525407-Alternative-C;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative C atattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccataga CATAGCAATGCT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAcatagcaatgctAGATCGAGACCCGACGC chr10:88525407-Alternative-C;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative C atattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccataga ACCGATGTAGGT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAaccgatgtaggtAGATCGAGACCCGACGC chr10:88525407-Alternative-C;Patient-66 chr10:88525407-AG DeNovo Patient-66 intronic BMPR1A 0.00086 0.000799 0.24 6.44 1.4 BMPR1A 9010 Alternative C atattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccataga GTTGGCGACTAT CGACGCGGTCTCTCTCTatattagatttctttactacaaaccttctcagaacttttaatatgctaatCcacatggtgaaactctagtatagtttccctaactacgtattaccatagaAGAGGGAGACGGACGTCTCAATAAgttggcgactatAGATCGAGACCCGACGC chr10:88525407-Alternative-C;Patient-66 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Variant G tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccacca ACGAGTAACAGG CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAacgagtaacaggAGATCGAGACCCGACGC chr10:88541411-Variant-G;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Variant G tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccacca ATTCGCGAGTAT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAattcgcgagtatAGATCGAGACCCGACGC chr10:88541411-Variant-G;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Variant G tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccacca CGTAACCGCATT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAcgtaaccgcattAGATCGAGACCCGACGC chr10:88541411-Variant-G;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative C tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccacca GTGAACGCAAGA CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgtgaacgcaagaAGATCGAGACCCGACGC chr10:88541411-Alternative-C;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative C tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccacca ATTCTACGAGGT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAattctacgaggtAGATCGAGACCCGACGC chr10:88541411-Alternative-C;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Reference T tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccacca GGTTCTAGTGCG CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAggttctagtgcgAGATCGAGACCCGACGC chr10:88541411-Reference-T;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Variant G tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccacca ATCTGCCGGTCA CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAatctgccggtcaAGATCGAGACCCGACGC chr10:88541411-Variant-G;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Variant G tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccacca GCGATTAGGCGT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacGttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgcgattaggcgtAGATCGAGACCCGACGC chr10:88541411-Variant-G;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Reference T tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccacca AGGTTGACCAGG CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAaggttgaccaggAGATCGAGACCCGACGC chr10:88541411-Reference-T;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative C tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccacca ACTGCTAGGCCT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAactgctaggcctAGATCGAGACCCGACGC chr10:88541411-Alternative-C;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Reference T tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccacca AGGCGTACCTTC CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAaggcgtaccttcAGATCGAGACCCGACGC chr10:88541411-Reference-T;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative C tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccacca GATGCATGAGAT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgatgcatgagatAGATCGAGACCCGACGC chr10:88541411-Alternative-C;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Reference T tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccacca GTTGAACCTGAT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgttgaacctgatAGATCGAGACCCGACGC chr10:88541411-Reference-T;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Reference T tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccacca GGATGTAAGGAC CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacTttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAggatgtaaggacAGATCGAGACCCGACGC chr10:88541411-Reference-T;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative A tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccacca CGGCACACGATT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAcggcacacgattAGATCGAGACCCGACGC chr10:88541411-Alternative-A;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative A tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccacca CGTCTATGGACG CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAcgtctatggacgAGATCGAGACCCGACGC chr10:88541411-Alternative-A;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative A tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccacca ACGGCTCGAGTT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAacggctcgagttAGATCGAGACCCGACGC chr10:88541411-Alternative-A;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative C tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccacca CTGTCGGTACCT CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacCttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAActgtcggtacctAGATCGAGACCCGACGC chr10:88541411-Alternative-C;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative A tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccacca GCATATAGGCGC CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgcatataggcgcAGATCGAGACCCGACGC chr10:88541411-Alternative-A;Patient-77 chr10:88541411-TG DeNovo Patient-77 intronic BMPR1A 0.000765 0.000479 NA NA NA BMPR1A 25014 Alternative A tgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccacca GACTACCGAACG CGACGCGGTCTCTCTCTtgtgtagtatttctggcactttctcatcttgcctgactgaaactctgtacAttagagcaactccctatttccctctcccttcagctcctggcaaccaccaAGAGGGAGACGGACGTCTCAATAAgactaccgaacgAGATCGAGACCCGACGC chr10:88541411-Alternative-A;Patient-77 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Variant G catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctctt AGTGTTACACCA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAagtgttacaccaAGATCGAGACCCGACGC chr10:88607032-Variant-G;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Variant G catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctctt CAAGCCTTCGAA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAcaagccttcgaaAGATCGAGACCCGACGC chr10:88607032-Variant-G;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative C catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctctt GGACAGTCGAAC CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAggacagtcgaacAGATCGAGACCCGACGC chr10:88607032-Alternative-C;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative T catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctctt CTCTGCGGTTCT CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAActctgcggttctAGATCGAGACCCGACGC chr10:88607032-Alternative-T;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Variant G catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctctt CTCGGTTCATGC CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAActcggttcatgcAGATCGAGACCCGACGC chr10:88607032-Variant-G;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Variant G catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctctt ACACGTAGTGAA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacacgtagtgaaAGATCGAGACCCGACGC chr10:88607032-Variant-G;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative T catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctctt ATTGACGGTAGA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAattgacggtagaAGATCGAGACCCGACGC chr10:88607032-Alternative-T;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative T catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctctt GTCAATAGGTTC CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAgtcaataggttcAGATCGAGACCCGACGC chr10:88607032-Alternative-T;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative C catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctctt ACGTGTTCAGAT CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacgtgttcagatAGATCGAGACCCGACGC chr10:88607032-Alternative-C;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative C catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctctt ACAACAGCATGA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacaacagcatgaAGATCGAGACCCGACGC chr10:88607032-Alternative-C;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative T catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctctt ATCCGGTCCGTT CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAatccggtccgttAGATCGAGACCCGACGC chr10:88607032-Alternative-T;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Reference A catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctctt CGTGAACCAGCT CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAcgtgaaccagctAGATCGAGACCCGACGC chr10:88607032-Reference-A;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative C catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctctt AGACTATCAACC CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAagactatcaaccAGATCGAGACCCGACGC chr10:88607032-Alternative-C;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Reference A catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctctt ACAACAGTACGA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacaacagtacgaAGATCGAGACCCGACGC chr10:88607032-Reference-A;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Variant G catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctctt CTATGATCGCTA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttGctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAActatgatcgctaAGATCGAGACCCGACGC chr10:88607032-Variant-G;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Reference A catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctctt ACACGATACGAA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacacgatacgaaAGATCGAGACCCGACGC chr10:88607032-Reference-A;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative T catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctctt ACGCTACATCTA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttTctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAacgctacatctaAGATCGAGACCCGACGC chr10:88607032-Alternative-T;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Reference A catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctctt CGCTTGTGGTAC CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAcgcttgtggtacAGATCGAGACCCGACGC chr10:88607032-Reference-A;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Reference A catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctctt CGTACGTAGTCG CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttActacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAcgtacgtagtcgAGATCGAGACCCGACGC chr10:88607032-Reference-A;Patient-49 chr10:88607032-AG Inherited Patient-49 intronic BMPR1A 0.000223 0.00016 -0.1 1.39 -0.67 BMPR1A 90635 Alternative C catgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctctt CGATGGAGCCTA CGACGCGGTCTCTCTCTcatgccacaaggttttcaggtaatatgaggttttctcctcatattctcttCctacacttcaattcctaactttatcttccagcctaataatttctctcttAGAGGGAGACGGACGTCTCAATAAcgatggagcctaAGATCGAGACCCGACGC chr10:88607032-Alternative-C;Patient-49 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative G aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GCATGCTCTAGG CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgcatgctctaggAGATCGAGACCCGACGC chr10:89667172-Alternative-G;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative G aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GCAATCAATCGT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgcaatcaatcgtAGATCGAGACCCGACGC chr10:89667172-Alternative-G;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative G aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt ACTCGGTTACGG CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAactcggttacggAGATCGAGACCCGACGC chr10:89667172-Alternative-G;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Variant T aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt ACTAATTCGGCA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAactaattcggcaAGATCGAGACCCGACGC chr10:89667172-Variant-T;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Variant T aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GGCGTATATCTA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAggcgtatatctaAGATCGAGACCCGACGC chr10:89667172-Variant-T;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Variant T aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt CGTGCGTGTTCT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAcgtgcgtgttctAGATCGAGACCCGACGC chr10:89667172-Variant-T;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative A aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt AACAAGCGGCCA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAaacaagcggccaAGATCGAGACCCGACGC chr10:89667172-Alternative-A;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Variant T aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt CTAAGCTTATGG CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAActaagcttatggAGATCGAGACCCGACGC chr10:89667172-Variant-T;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative A aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GCGATCGCTGAT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgcgatcgctgatAGATCGAGACCCGACGC chr10:89667172-Alternative-A;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative G aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt CGATAAGTACGA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAcgataagtacgaAGATCGAGACCCGACGC chr10:89667172-Alternative-G;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Variant T aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GATCATCCTTGT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagTaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgatcatccttgtAGATCGAGACCCGACGC chr10:89667172-Variant-T;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative A aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt AGATAAGACCGC CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAagataagaccgcAGATCGAGACCCGACGC chr10:89667172-Alternative-A;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Reference C aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt AGCCTTACAACA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAagccttacaacaAGATCGAGACCCGACGC chr10:89667172-Reference-C;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative A aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GTATCTAAGCGT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgtatctaagcgtAGATCGAGACCCGACGC chr10:89667172-Alternative-A;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Reference C aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt AGGTTGCTAGTT CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAaggttgctagttAGATCGAGACCCGACGC chr10:89667172-Reference-C;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative G aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt AGCTGTTGTCAA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagGaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAagctgttgtcaaAGATCGAGACCCGACGC chr10:89667172-Alternative-G;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Reference C aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GCATACGTAAGA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgcatacgtaagaAGATCGAGACCCGACGC chr10:89667172-Reference-C;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Alternative A aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt CGAACAGCTAGA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagAaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAcgaacagctagaAGATCGAGACCCGACGC chr10:89667172-Alternative-A;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Reference C aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt GACTGACGAGCA CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAgactgacgagcaAGATCGAGACCCGACGC chr10:89667172-Reference-C;Patient-69 chr10:89667172-CT DeNovo Patient-69 intronic PTEN 0.000197 4.63e-05 0.11 4.48 -0.78 PTEN 43976 Reference C aggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgtt CATATAGCGAAG CGACGCGGTCTCTCTCTaggaggaaaaagaatccgagtagttgagggtgattgcatctggggagaagCaggaataaaggtttgaagataaatagggccagagatgagtaattttgttAGAGGGAGACGGACGTCTCAATAAcatatagcgaagAGATCGAGACCCGACGC chr10:89667172-Reference-C;Patient-69 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Reference G gggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CGGTCGGCATTA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAcggtcggcattaAGATCGAGACCCGACGC chr10:90738063-Reference-G;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Reference G gggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GGCAATCATACG CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAggcaatcatacgAGATCGAGACCCGACGC chr10:90738063-Reference-G;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Reference G gggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GGTAGACCGACT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAggtagaccgactAGATCGAGACCCGACGC chr10:90738063-Reference-G;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Reference G gggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GTTACGTCGGCA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgttacgtcggcaAGATCGAGACCCGACGC chr10:90738063-Reference-G;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative T gggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CTGCATGTACTT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAActgcatgtacttAGATCGAGACCCGACGC chr10:90738063-Alternative-T;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative T gggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GGCGCTATGTTC CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAggcgctatgttcAGATCGAGACCCGACGC chr10:90738063-Alternative-T;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative T gggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact AACCGCAGTACG CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAaaccgcagtacgAGATCGAGACCCGACGC chr10:90738063-Alternative-T;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Variant A gggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CATCGGAATCAA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAcatcggaatcaaAGATCGAGACCCGACGC chr10:90738063-Variant-A;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Reference G gggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GGTGAACTTCAT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacGagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAggtgaacttcatAGATCGAGACCCGACGC chr10:90738063-Reference-G;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative T gggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CTTGAAGGAACA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAActtgaaggaacaAGATCGAGACCCGACGC chr10:90738063-Alternative-T;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative C gggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GACCGTCGAGAA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgaccgtcgagaaAGATCGAGACCCGACGC chr10:90738063-Alternative-C;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative C gggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact ATCGTGTAGTCA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAatcgtgtagtcaAGATCGAGACCCGACGC chr10:90738063-Alternative-C;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Variant A gggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GGTGACGGCTAA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAggtgacggctaaAGATCGAGACCCGACGC chr10:90738063-Variant-A;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative C gggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GTGCGAGTACGT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgtgcgagtacgtAGATCGAGACCCGACGC chr10:90738063-Alternative-C;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative T gggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GTCGTAGTATGT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacTagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgtcgtagtatgtAGATCGAGACCCGACGC chr10:90738063-Alternative-T;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative C gggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CGACTACGATGG CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAcgactacgatggAGATCGAGACCCGACGC chr10:90738063-Alternative-C;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Alternative C gggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CGTGGCTTATGG CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacCagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAcgtggcttatggAGATCGAGACCCGACGC chr10:90738063-Alternative-C;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Variant A gggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GAGTTGAACCTA CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgagttgaacctaAGATCGAGACCCGACGC chr10:90738063-Variant-A;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Variant A gggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact CTACGACCAAGG CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAActacgaccaaggAGATCGAGACCCGACGC chr10:90738063-Variant-A;Patient-91 chr10:90738063-GA DeNovo Patient-91 intronic ACTA2 3.4e-05 0.00016 -0.02 2.27 0 ACTA2 13083 Variant A gggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaact GATAGCGGAGCT CGACGCGGTCTCTCTCTgggggaggggggagggatagcatcgggagatatacctaatgctagatgacAagttagtgggtgcagcgcaccagcatggcacatgtatacatatgtaactAGAGGGAGACGGACGTCTCAATAAgatagcggagctAGATCGAGACCCGACGC chr10:90738063-Variant-A;Patient-91 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative A ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg AGCCAATGCGAT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAagccaatgcgatAGATCGAGACCCGACGC chr10:96369823-Alternative-A;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative A ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CGCGTAATACGT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcgcgtaatacgtAGATCGAGACCCGACGC chr10:96369823-Alternative-A;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative A ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg GATGAGTACGGC CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAgatgagtacggcAGATCGAGACCCGACGC chr10:96369823-Alternative-A;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative G ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg GATCGGTGACGA CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAgatcggtgacgaAGATCGAGACCCGACGC chr10:96369823-Alternative-G;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative G ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CGGCACGTTATA CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcggcacgttataAGATCGAGACCCGACGC chr10:96369823-Alternative-G;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative G ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg AACGAGACTCGG CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAaacgagactcggAGATCGAGACCCGACGC chr10:96369823-Alternative-G;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Reference T ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg ACGCATTGTTCT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAacgcattgttctAGATCGAGACCCGACGC chr10:96369823-Reference-T;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative G ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg GTATCCGCGTCA CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAgtatccgcgtcaAGATCGAGACCCGACGC chr10:96369823-Alternative-G;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative G ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg ATCGACCGCAAG CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaGagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAatcgaccgcaagAGATCGAGACCCGACGC chr10:96369823-Alternative-G;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Reference T ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CAGGACGACATT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcaggacgacattAGATCGAGACCCGACGC chr10:96369823-Reference-T;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Reference T ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CGCTAAGATGTT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcgctaagatgttAGATCGAGACCCGACGC chr10:96369823-Reference-T;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Reference T ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg GTCGACTTCGCT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAgtcgacttcgctAGATCGAGACCCGACGC chr10:96369823-Reference-T;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Variant C ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CGTTAGGCCATC CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcgttaggccatcAGATCGAGACCCGACGC chr10:96369823-Variant-C;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Reference T ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CACACGTTAAGG CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaTagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcacacgttaaggAGATCGAGACCCGACGC chr10:96369823-Reference-T;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative A ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg AATGCGACGAAT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAaatgcgacgaatAGATCGAGACCCGACGC chr10:96369823-Alternative-A;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Variant C ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg ACGTACGAGCCA CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAacgtacgagccaAGATCGAGACCCGACGC chr10:96369823-Variant-C;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Variant C ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg GCATAACGTCAC CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAgcataacgtcacAGATCGAGACCCGACGC chr10:96369823-Variant-C;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Variant C ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg CAACCGGAGCAT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAcaaccggagcatAGATCGAGACCCGACGC chr10:96369823-Variant-C;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Variant C ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg AACGTTGAGTCT CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaCagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAaacgttgagtctAGATCGAGACCCGACGC chr10:96369823-Variant-C;Patient-55 chr10:96369823-TC Inherited Patient-55 intergenic NA 0.000513 0.08 3.85 0.45 HELLS 64248 Alternative A ttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatgg ACAGGTGGTAGA CGACGCGGTCTCTCTCTttgtttggaattgacgtttagctgtgttcctcactcagatacgtgcatgaAagctgcttgctaatttggtcttagctcacatttcacctagaatgtatggAGAGGGAGACGGACGTCTCAATAAacaggtggtagaAGATCGAGACCCGACGC chr10:96369823-Alternative-A;Patient-55 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Reference T ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GTGACGGTGTGA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgtgacggtgtgaAGATCGAGACCCGACGC chr10:96437661-Reference-T;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Reference T ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GGAGGTTATGAT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAggaggttatgatAGATCGAGACCCGACGC chr10:96437661-Reference-T;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Reference T ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc ACTTGCGAGCGA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAacttgcgagcgaAGATCGAGACCCGACGC chr10:96437661-Reference-T;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative G ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc AGATACGGCCAT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAagatacggccatAGATCGAGACCCGACGC chr10:96437661-Alternative-G;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative G ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CAAGAGATACAC CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAcaagagatacacAGATCGAGACCCGACGC chr10:96437661-Alternative-G;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative G ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GGCTCTTCGCTA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAggctcttcgctaAGATCGAGACCCGACGC chr10:96437661-Alternative-G;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Reference T ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc ACCTGGCGAGTT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAacctggcgagttAGATCGAGACCCGACGC chr10:96437661-Reference-T;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative G ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc AGCGTCTTCGCT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAagcgtcttcgctAGATCGAGACCCGACGC chr10:96437661-Alternative-G;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative G ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CAGCATTCGGCA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacGttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAcagcattcggcaAGATCGAGACCCGACGC chr10:96437661-Alternative-G;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Reference T ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CTGTTCACGCGA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacTttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAActgttcacgcgaAGATCGAGACCCGACGC chr10:96437661-Reference-T;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative A ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc AGTTCGCACGCA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAagttcgcacgcaAGATCGAGACCCGACGC chr10:96437661-Alternative-A;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative A ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GTCATCGAGTCG CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgtcatcgagtcgAGATCGAGACCCGACGC chr10:96437661-Alternative-A;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative A ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CGCACCAACGAA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAcgcaccaacgaaAGATCGAGACCCGACGC chr10:96437661-Alternative-A;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Variant C ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GCGGCTCGATAT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgcggctcgatatAGATCGAGACCCGACGC chr10:96437661-Variant-C;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative A ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GATCGGCTATAT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgatcggctatatAGATCGAGACCCGACGC chr10:96437661-Alternative-A;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Variant C ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GGAACCTGGTAT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAggaacctggtatAGATCGAGACCCGACGC chr10:96437661-Variant-C;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Variant C ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CAACGCAGTGCT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAcaacgcagtgctAGATCGAGACCCGACGC chr10:96437661-Variant-C;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Variant C ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GTGTAACCGTGC CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgtgtaaccgtgcAGATCGAGACCCGACGC chr10:96437661-Variant-C;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Variant C ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc CTTACTCTAGCA CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacCttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAActtactctagcaAGATCGAGACCCGACGC chr10:96437661-Variant-C;Patient-56 chr10:96437661-TC DeNovo Patient-56 intergenic NA 0.000513 0.09 4.12 -0.39 CYP2C19 84719 Alternative A ttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgcc GTGATGAACAGT CGACGCGGTCTCTCTCTttaactctgtttttgccccctgtggctgctgagcagaactacctctgtacAttgtcctcaagcagcaaagtcccacacccaagcttttgtggaagatgccAGAGGGAGACGGACGTCTCAATAAgtgatgaacagtAGATCGAGACCCGACGC chr10:96437661-Alternative-A;Patient-56 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Reference G agctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat AGCAAGTGTTCT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAagcaagtgttctAGATCGAGACCCGACGC chr10:96585669-Reference-G;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative T agctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ACGAAGAGCTAA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAacgaagagctaaAGATCGAGACCCGACGC chr10:96585669-Alternative-T;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Variant A agctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GGCCGCTAGTTA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAggccgctagttaAGATCGAGACCCGACGC chr10:96585669-Variant-A;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative T agctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ACTCGGACATTA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAactcggacattaAGATCGAGACCCGACGC chr10:96585669-Alternative-T;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Reference G agctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ATACGGATGTGA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAatacggatgtgaAGATCGAGACCCGACGC chr10:96585669-Reference-G;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Reference G agctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ACGAGTACTCTA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAacgagtactctaAGATCGAGACCCGACGC chr10:96585669-Reference-G;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative T agctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ACCGTGATCGTC CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAaccgtgatcgtcAGATCGAGACCCGACGC chr10:96585669-Alternative-T;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Reference G agctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat AAGTTGTACCGA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAaagttgtaccgaAGATCGAGACCCGACGC chr10:96585669-Reference-G;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Variant A agctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat CGGAAGCCGATT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAcggaagccgattAGATCGAGACCCGACGC chr10:96585669-Variant-A;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Variant A agctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat CTTGTTAGCGTT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAActtgttagcgttAGATCGAGACCCGACGC chr10:96585669-Variant-A;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative T agctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ATATGGTGGCTT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAatatggtggcttAGATCGAGACCCGACGC chr10:96585669-Alternative-T;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Reference G agctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GGTGTACGCTGT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagGgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAggtgtacgctgtAGATCGAGACCCGACGC chr10:96585669-Reference-G;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative T agctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat CAAGCATGTATC CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagTgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAcaagcatgtatcAGATCGAGACCCGACGC chr10:96585669-Alternative-T;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Variant A agctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GCGTTCGCTTAA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAgcgttcgcttaaAGATCGAGACCCGACGC chr10:96585669-Variant-A;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative C agctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GAGTTGTACCGG CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAgagttgtaccggAGATCGAGACCCGACGC chr10:96585669-Alternative-C;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative C agctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ACGTGTACTCAA CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAacgtgtactcaaAGATCGAGACCCGACGC chr10:96585669-Alternative-C;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative C agctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat ATCACCAAGCAT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAatcaccaagcatAGATCGAGACCCGACGC chr10:96585669-Alternative-C;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Variant A agctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat CGATGGAATCGC CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagAgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAcgatggaatcgcAGATCGAGACCCGACGC chr10:96585669-Variant-A;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative C agctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GACGATTATCGT CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAgacgattatcgtAGATCGAGACCCGACGC chr10:96585669-Alternative-C;Patient-22 chr10:96585669-GA Inherited Patient-22 intronic CYP2C19 NA 4.95e-05 -0.09 1.52 0 CYP2C19 63287 Alternative C agctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagat GTATTCGCGCAG CGACGCGGTCTCTCTCTagctttctacatatggctagccagctttcccagcaccatttattaaatagCgaatcctttctccattgcttgtttttctcaggtttgtcaaagatcagatAGAGGGAGACGGACGTCTCAATAAgtattcgcgcagAGATCGAGACCCGACGC chr10:96585669-Alternative-C;Patient-22 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative C cggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg AGTACCAGACTT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAagtaccagacttAGATCGAGACCCGACGC chr10:97416233-Alternative-C;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative A cggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg AAGGCGATTGAG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAaaggcgattgagAGATCGAGACCCGACGC chr10:97416233-Alternative-A;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative C cggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CGGACGTTAACT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAcggacgttaactAGATCGAGACCCGACGC chr10:97416233-Alternative-C;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Reference T cggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CGTCCACTAATT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAcgtccactaattAGATCGAGACCCGACGC chr10:97416233-Reference-T;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative C cggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg AAGGTACGTACA CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAaaggtacgtacaAGATCGAGACCCGACGC chr10:97416233-Alternative-C;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative C cggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CATTAGGTTACG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAcattaggttacgAGATCGAGACCCGACGC chr10:97416233-Alternative-C;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative C cggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg ATCAACCGGTTA CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccCgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAatcaaccggttaAGATCGAGACCCGACGC chr10:97416233-Alternative-C;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative A cggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CTCACAAGCGAC CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAActcacaagcgacAGATCGAGACCCGACGC chr10:97416233-Alternative-A;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Reference T cggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg GCAATGGTCGAT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAgcaatggtcgatAGATCGAGACCCGACGC chr10:97416233-Reference-T;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative A cggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg GAGCAGCGGTAT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAgagcagcggtatAGATCGAGACCCGACGC chr10:97416233-Alternative-A;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative A cggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg GGCTTGATTGCG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAggcttgattgcgAGATCGAGACCCGACGC chr10:97416233-Alternative-A;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Alternative A cggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CTATGCTATGCT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccAgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAActatgctatgctAGATCGAGACCCGACGC chr10:97416233-Alternative-A;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Reference T cggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CTACGTTACGCG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAActacgttacgcgAGATCGAGACCCGACGC chr10:97416233-Reference-T;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Reference T cggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg GAGTCCATTCTT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAgagtccattcttAGATCGAGACCCGACGC chr10:97416233-Reference-T;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Variant G cggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CAGACTATGTCG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAcagactatgtcgAGATCGAGACCCGACGC chr10:97416233-Variant-G;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Variant G cggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CTCGGCTATAAT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAActcggctataatAGATCGAGACCCGACGC chr10:97416233-Variant-G;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Variant G cggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg GCCGTCGAATCA CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAgccgtcgaatcaAGATCGAGACCCGACGC chr10:97416233-Variant-G;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Variant G cggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg AACGATTCGGCG CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAaacgattcggcgAGATCGAGACCCGACGC chr10:97416233-Variant-G;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Reference T cggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg AACACCTATGCT CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccTgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAAaacacctatgctAGATCGAGACCCGACGC chr10:97416233-Reference-T;Patient-87 chr10:97416233-TG Inherited Patient-87 intronic ALDH18A1 0.00032 0.000319 0.56 9.89 0.98 ALDH18A1 333 Variant G cggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcg CTAGGCTGAATC CGACGCGGTCTCTCTCTcggccgaggcccacacctacccatgggccagatccccgggccccggcaccGgctccggcagcgtccccgctccagcggcccggcgctcacgcccctcgcgAGAGGGAGACGGACGTCTCAATAActaggctgaatcAGATCGAGACCCGACGC chr10:97416233-Variant-G;Patient-87 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative G ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CTCGGAACAATT CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAActcggaacaattAGATCGAGACCCGACGC chr10:98567218-Alternative-G;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Variant T ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GTGCTTACGTGG CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAgtgcttacgtggAGATCGAGACCCGACGC chr10:98567218-Variant-T;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Variant T ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa AAGATTCGACCG CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAaagattcgaccgAGATCGAGACCCGACGC chr10:98567218-Variant-T;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Variant T ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GGTATCTCGTGG CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAggtatctcgtggAGATCGAGACCCGACGC chr10:98567218-Variant-T;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Variant T ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CTATATGACCGA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAActatatgaccgaAGATCGAGACCCGACGC chr10:98567218-Variant-T;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Variant T ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CTTGGTAACGAG CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggTggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAActtggtaacgagAGATCGAGACCCGACGC chr10:98567218-Variant-T;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative A ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GACGGCTGGTAA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAgacggctggtaaAGATCGAGACCCGACGC chr10:98567218-Alternative-A;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Reference C ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa ACCTGTTCCATA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAacctgttccataAGATCGAGACCCGACGC chr10:98567218-Reference-C;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Reference C ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CGATAGACCGAA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAcgatagaccgaaAGATCGAGACCCGACGC chr10:98567218-Reference-C;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative A ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CGTGTAATGAGA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAcgtgtaatgagaAGATCGAGACCCGACGC chr10:98567218-Alternative-A;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Reference C ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GAGATGTCGTGG CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAgagatgtcgtggAGATCGAGACCCGACGC chr10:98567218-Reference-C;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative G ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa ATCTGGTCATGA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAatctggtcatgaAGATCGAGACCCGACGC chr10:98567218-Alternative-G;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative G ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CGTTGTGATCAA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAcgttgtgatcaaAGATCGAGACCCGACGC chr10:98567218-Alternative-G;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Reference C ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CGGAACACAGCT CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAcggaacacagctAGATCGAGACCCGACGC chr10:98567218-Reference-C;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative A ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GCCGTCTAGTCA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAgccgtctagtcaAGATCGAGACCCGACGC chr10:98567218-Alternative-A;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative A ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa AGGTTGTGTAGA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAaggttgtgtagaAGATCGAGACCCGACGC chr10:98567218-Alternative-A;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Reference C ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa CTCATGATCGTT CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggCggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAActcatgatcgttAGATCGAGACCCGACGC chr10:98567218-Reference-C;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative A ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa GTACGCGCCTAT CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggAggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAgtacgcgcctatAGATCGAGACCCGACGC chr10:98567218-Alternative-A;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative G ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa AGTAGCGATCCA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAagtagcgatccaAGATCGAGACCCGACGC chr10:98567218-Alternative-G;Patient-85 chr10:98567218-CT Inherited Patient-85 intergenic 0.000329 0.000513 0.13 4.71 0.11 LCOR 24798 Alternative G ccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaa ATAGTATCGCCA CGACGCGGTCTCTCTCTccccagctacttgggaggctgaggcaggagaatcacttgaacctgggaggGggaggttgtggtgagccgagatcatgccactgcactctagcctgggtaaAGAGGGAGACGGACGTCTCAATAAatagtatcgccaAGATCGAGACCCGACGC chr10:98567218-Alternative-G;Patient-85 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative G cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CTACCAAGTAAC CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAActaccaagtaacAGATCGAGACCCGACGC chr10:99066615-Alternative-G;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Variant T cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GTGAACGGTCCA CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgtgaacggtccaAGATCGAGACCCGACGC chr10:99066615-Variant-T;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Variant T cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GGACCGTCAGTT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAggaccgtcagttAGATCGAGACCCGACGC chr10:99066615-Variant-T;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Variant T cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc ACGCTAATCTGT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAacgctaatctgtAGATCGAGACCCGACGC chr10:99066615-Variant-T;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Variant T cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CACGCCGAATGT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcacgccgaatgtAGATCGAGACCCGACGC chr10:99066615-Variant-T;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative G cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CGCCGCATAACT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcgccgcataactAGATCGAGACCCGACGC chr10:99066615-Alternative-G;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative A cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GAGCCTAACTAA CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgagcctaactaaAGATCGAGACCCGACGC chr10:99066615-Alternative-A;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Variant T cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CGAATATGCGAT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccTgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcgaatatgcgatAGATCGAGACCCGACGC chr10:99066615-Variant-T;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative G cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GATCATGCAATC CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgatcatgcaatcAGATCGAGACCCGACGC chr10:99066615-Alternative-G;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative G cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GTAAGGTATGCA CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgtaaggtatgcaAGATCGAGACCCGACGC chr10:99066615-Alternative-G;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative G cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GTCGGCAATAGG CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccGgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgtcggcaataggAGATCGAGACCCGACGC chr10:99066615-Alternative-G;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative A cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GTTGGTCACGGT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgttggtcacggtAGATCGAGACCCGACGC chr10:99066615-Alternative-A;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative A cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CGTGTCGTAACG CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcgtgtcgtaacgAGATCGAGACCCGACGC chr10:99066615-Alternative-A;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Reference C cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GAGTGCGCTATC CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgagtgcgctatcAGATCGAGACCCGACGC chr10:99066615-Reference-C;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative A cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GTACGAACTAGA CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgtacgaactagaAGATCGAGACCCGACGC chr10:99066615-Alternative-A;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Reference C cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CGCTCATTCCGT CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcgctcattccgtAGATCGAGACCCGACGC chr10:99066615-Reference-C;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Reference C cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc GATATATCCTGG CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAgatatatcctggAGATCGAGACCCGACGC chr10:99066615-Reference-C;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Alternative A cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc CGCGATCTACAC CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccAgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAcgcgatctacacAGATCGAGACCCGACGC chr10:99066615-Alternative-A;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Reference C cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc AAGTGCGGTAGG CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAaagtgcggtaggAGATCGAGACCCGACGC chr10:99066615-Reference-C;Patient-54 chr10:99066615-CT Inherited Patient-54 intergenic 0.000352 0.000513 -0.1 1.45 0.32 RRP12 94511 Reference C cctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagcc ACGCTGCAAGTC CGACGCGGTCTCTCTCTcctggaatcccagctacctgagaagctgagacaggagaattgcttgaaccCgggaggcagaggtggtggtgagctgagatcgcgccattgtactccagccAGAGGGAGACGGACGTCTCAATAAacgctgcaagtcAGATCGAGACCCGACGC chr10:99066615-Reference-C;Patient-54 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Reference G catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AGGCGCAGATAC CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaggcgcagatacAGATCGAGACCCGACGC chr11:101428967-Reference-G;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Variant T catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CTGCTATATTGC CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAActgctatattgcAGATCGAGACCCGACGC chr11:101428967-Variant-T;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Reference G catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg GTGAACGCTTCG CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAgtgaacgcttcgAGATCGAGACCCGACGC chr11:101428967-Reference-G;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Reference G catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AACCACGGCCTT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaaccacggccttAGATCGAGACCCGACGC chr11:101428967-Reference-G;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Reference G catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AAGTTCCGGATT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaagttccggattAGATCGAGACCCGACGC chr11:101428967-Reference-G;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Reference G catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CTGTGCGGACTT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgGgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAActgtgcggacttAGATCGAGACCCGACGC chr11:101428967-Reference-G;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Variant T catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg GTACAATGCGCG CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAgtacaatgcgcgAGATCGAGACCCGACGC chr11:101428967-Variant-T;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Variant T catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AGTCGTTGGATT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAagtcgttggattAGATCGAGACCCGACGC chr11:101428967-Variant-T;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Variant T catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CTCGCGGTAGAA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAActcgcggtagaaAGATCGAGACCCGACGC chr11:101428967-Variant-T;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative A catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CAGCAACCGAAC CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAcagcaaccgaacAGATCGAGACCCGACGC chr11:101428967-Alternative-A;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative C catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CAGTTGCGGTTC CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAcagttgcggttcAGATCGAGACCCGACGC chr11:101428967-Alternative-C;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative C catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CGAATGCCTCGA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAcgaatgcctcgaAGATCGAGACCCGACGC chr11:101428967-Alternative-C;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative A catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg ACCGCTTGTAAT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaccgcttgtaatAGATCGAGACCCGACGC chr11:101428967-Alternative-A;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative A catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg GGATATCATGCT CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAggatatcatgctAGATCGAGACCCGACGC chr11:101428967-Alternative-A;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Variant T catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg ACTTCGCTGTTA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgTgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAacttcgctgttaAGATCGAGACCCGACGC chr11:101428967-Variant-T;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative A catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CAGATCACGCAA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAcagatcacgcaaAGATCGAGACCCGACGC chr11:101428967-Alternative-A;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative A catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg CATTCTGGCTAA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgAgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAcattctggctaaAGATCGAGACCCGACGC chr11:101428967-Alternative-A;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative C catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg ACGCATTGTCGG CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAacgcattgtcggAGATCGAGACCCGACGC chr11:101428967-Alternative-C;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative C catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AATCATGCATGC CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaatcatgcatgcAGATCGAGACCCGACGC chr11:101428967-Alternative-C;Patient-73 chr11:101428967-GT DeNovo Patient-73 intronic TRPC6 0.000284 0.000693 -0.25 0.5 0 TRPC6 25691 Alternative C catacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatg AGGTAGCGGTAA CGACGCGGTCTCTCTCTcatacatatatatgtgtgtgtatacatgtatatatgtatacatgtatatgCgtatacatgtatatatgtatacatgtatatgggtatacatgtatatatgAGAGGGAGACGGACGTCTCAATAAaggtagcggtaaAGATCGAGACCCGACGC chr11:101428967-Alternative-C;Patient-73 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative G cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTACCAAGACGC CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgtaccaagacgcAGATCGAGACCCGACGC chr11:101538062-Alternative-G;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative G cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac AGTGCGACTAGT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAagtgcgactagtAGATCGAGACCCGACGC chr11:101538062-Alternative-G;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Reference T cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac ATTCGGTAATCG CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAattcggtaatcgAGATCGAGACCCGACGC chr11:101538062-Reference-T;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Variant A cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTGGCTTAGACT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgtggcttagactAGATCGAGACCCGACGC chr11:101538062-Variant-A;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Variant A cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTCGCAGTCAAT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgtcgcagtcaatAGATCGAGACCCGACGC chr11:101538062-Variant-A;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative G cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTTCAATACGCA CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgttcaatacgcaAGATCGAGACCCGACGC chr11:101538062-Alternative-G;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Variant A cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac CAGGACCATCAT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAcaggaccatcatAGATCGAGACCCGACGC chr11:101538062-Variant-A;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Reference T cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GGTCGTTGATCG CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAggtcgttgatcgAGATCGAGACCCGACGC chr11:101538062-Reference-T;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Variant A cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac ACAGCATGTCTA CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAacagcatgtctaAGATCGAGACCCGACGC chr11:101538062-Variant-A;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Reference T cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTGAATGGTTCG CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgtgaatggttcgAGATCGAGACCCGACGC chr11:101538062-Reference-T;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative G cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac AAGGTGCCGTCA CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAaaggtgccgtcaAGATCGAGACCCGACGC chr11:101538062-Alternative-G;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative C cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTGTCTAACCTT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgtgtctaaccttAGATCGAGACCCGACGC chr11:101538062-Alternative-C;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Variant A cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac CTTGTAACGTCC CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaAgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAActtgtaacgtccAGATCGAGACCCGACGC chr11:101538062-Variant-A;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative G cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac GTTGTTGGCAAT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaGgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAgttgttggcaatAGATCGAGACCCGACGC chr11:101538062-Alternative-G;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative C cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac AGTAAGGTACGT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAagtaaggtacgtAGATCGAGACCCGACGC chr11:101538062-Alternative-C;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Reference T cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac CAGATGGTCACT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAcagatggtcactAGATCGAGACCCGACGC chr11:101538062-Reference-T;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Reference T cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac CACATATAAGCG CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaTgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAcacatataagcgAGATCGAGACCCGACGC chr11:101538062-Reference-T;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative C cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac AGATCGCTCGCT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAagatcgctcgctAGATCGAGACCCGACGC chr11:101538062-Alternative-C;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative C cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac ACGACATCGCTT CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAacgacatcgcttAGATCGAGACCCGACGC chr11:101538062-Alternative-C;Patient-88 chr11:101538062-TA DeNovo Patient-88 intergenic 3.2e-05 0.00205 0.04 3.21 1.1 TRPC6 83402 Alternative C cttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctac CACATTATCAGG CGACGCGGTCTCTCTCTcttcaaacttgtagaggtttcacacgttttggagtgtgtctcatggtttaCgcgtagatgtagtatgaatccttaaggtttatattttgggatcgtctacAGAGGGAGACGGACGTCTCAATAAcacattatcaggAGATCGAGACCCGACGC chr11:101538062-Alternative-C;Patient-88 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Variant C gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GCGCCTAGATGT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgcgcctagatgtAGATCGAGACCCGACGC chr11:102200815-Variant-C;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Reference T gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GTTAATCGGACA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgttaatcggacaAGATCGAGACCCGACGC chr11:102200815-Reference-T;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Variant C gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GAATCACGTTGT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgaatcacgttgtAGATCGAGACCCGACGC chr11:102200815-Variant-C;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Variant C gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt ATCTCCGGAATA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAatctccggaataAGATCGAGACCCGACGC chr11:102200815-Variant-C;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative A gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GAATCAACGTGC CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgaatcaacgtgcAGATCGAGACCCGACGC chr11:102200815-Alternative-A;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Variant C gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GGCAATCACGCT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAggcaatcacgctAGATCGAGACCCGACGC chr11:102200815-Variant-C;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Reference T gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt AAGACGGACTTA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAaagacggacttaAGATCGAGACCCGACGC chr11:102200815-Reference-T;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Variant C gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt AGAACCTGTTCA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaCtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAagaacctgttcaAGATCGAGACCCGACGC chr11:102200815-Variant-C;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative A gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GGTTGGTCGCAT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAggttggtcgcatAGATCGAGACCCGACGC chr11:102200815-Alternative-A;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative G gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt AGCCGATCATTA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAagccgatcattaAGATCGAGACCCGACGC chr11:102200815-Alternative-G;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Reference T gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GAGCAGTAACGA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgagcagtaacgaAGATCGAGACCCGACGC chr11:102200815-Reference-T;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative G gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt CGTGCGGCTAAT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAcgtgcggctaatAGATCGAGACCCGACGC chr11:102200815-Alternative-G;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative A gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt CAAGTAGGATCA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAcaagtaggatcaAGATCGAGACCCGACGC chr11:102200815-Alternative-A;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative G gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GGATGCCGGTAA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAggatgccggtaaAGATCGAGACCCGACGC chr11:102200815-Alternative-G;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Reference T gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt CAACGGCAAGAA CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAcaacggcaagaaAGATCGAGACCCGACGC chr11:102200815-Reference-T;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative G gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt ACACCGTCGTGT CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAacaccgtcgtgtAGATCGAGACCCGACGC chr11:102200815-Alternative-G;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Reference T gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt ACAACACGTCAC CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaTtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAacaacacgtcacAGATCGAGACCCGACGC chr11:102200815-Reference-T;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative A gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt AAGGAATGGCCG CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAaaggaatggccgAGATCGAGACCCGACGC chr11:102200815-Alternative-A;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative A gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt CGAATCGTGCAC CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaAtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAcgaatcgtgcacAGATCGAGACCCGACGC chr11:102200815-Alternative-A;Patient-18 chr11:102200815-TC DeNovo Patient-18 intronic BIRC3 NA 4.95e-05 -0.19 0.79 -4.69 BIRC3 12633 Alternative G gggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgt GTGTTCTTATGC CGACGCGGTCTCTCTCTgggatatggcagcaaaagtaaagtgtaatatgagagtgcatataggacaaGtaacccagacttggagggtcagaaaaggctttccaaaggaagtacttgtAGAGGGAGACGGACGTCTCAATAAgtgttcttatgcAGATCGAGACCCGACGC chr11:102200815-Alternative-G;Patient-18 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Reference G aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CGGCTTATTGCG CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcggcttattgcgAGATCGAGACCCGACGC chr11:102373788-Reference-G;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative C aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CTTGGTGATGAT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAActtggtgatgatAGATCGAGACCCGACGC chr11:102373788-Alternative-C;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Variant A aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GCGGATGTGACT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgcggatgtgactAGATCGAGACCCGACGC chr11:102373788-Variant-A;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Reference G aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GTACACGCAACA CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgtacacgcaacaAGATCGAGACCCGACGC chr11:102373788-Reference-G;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative C aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GGCCGGATTGAT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAggccggattgatAGATCGAGACCCGACGC chr11:102373788-Alternative-C;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Reference G aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GATTCTGGTGCG CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgattctggtgcgAGATCGAGACCCGACGC chr11:102373788-Reference-G;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative C aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GACTAGTACGAA CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgactagtacgaaAGATCGAGACCCGACGC chr11:102373788-Alternative-C;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Variant A aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CGTCGGTATCCT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcgtcggtatcctAGATCGAGACCCGACGC chr11:102373788-Variant-A;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative T aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt AGCTGTAACATC CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAagctgtaacatcAGATCGAGACCCGACGC chr11:102373788-Alternative-T;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Variant A aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CGGACGAACCTA CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcggacgaacctaAGATCGAGACCCGACGC chr11:102373788-Variant-A;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative T aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt ACGGTGACTTCG CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAacggtgacttcgAGATCGAGACCCGACGC chr11:102373788-Alternative-T;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative T aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CGTACATGTGAT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcgtacatgtgatAGATCGAGACCCGACGC chr11:102373788-Alternative-T;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative C aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GTCCGTGGTCTT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgtccgtggtcttAGATCGAGACCCGACGC chr11:102373788-Alternative-C;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Variant A aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CGCACTATACGC CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcgcactatacgcAGATCGAGACCCGACGC chr11:102373788-Variant-A;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Reference G aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt AAGTTCCAATCG CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAaagttccaatcgAGATCGAGACCCGACGC chr11:102373788-Reference-G;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Variant A aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CTCGCTACGTAC CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctAaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAActcgctacgtacAGATCGAGACCCGACGC chr11:102373788-Variant-A;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative C aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CAAGCGGTGTAC CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctCaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcaagcggtgtacAGATCGAGACCCGACGC chr11:102373788-Alternative-C;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative T aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt CAACTAACGAGT CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAcaactaacgagtAGATCGAGACCCGACGC chr11:102373788-Alternative-T;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Reference G aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt AATGTCGTGGAA CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctGaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAaatgtcgtggaaAGATCGAGACCCGACGC chr11:102373788-Reference-G;Patient-89 chr11:102373788-GA Inherited Patient-89 intergenic 0.000605 0.00103 -0.17 0.9 0 MMP7 27689 Alternative T aattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtctt GTACAGAGATCG CGACGCGGTCTCTCTCTaattgcttttggtgttttagtcacgaagtctttgtacatgcctatgtcctTaatggtattgcctaggttttcttctagggtttttgtggttttaggtcttAGAGGGAGACGGACGTCTCAATAAgtacagagatcgAGATCGAGACCCGACGC chr11:102373788-Alternative-T;Patient-89 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative C aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CGTCTAATTAGG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcgtctaattaggAGATCGAGACCCGACGC chr11:102726646-Alternative-C;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative C aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca GATGTACTAAGG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAgatgtactaaggAGATCGAGACCCGACGC chr11:102726646-Alternative-C;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Variant A aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CGCCGAATTCGT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcgccgaattcgtAGATCGAGACCCGACGC chr11:102726646-Variant-A;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Variant A aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AACAACGTTGAG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAaacaacgttgagAGATCGAGACCCGACGC chr11:102726646-Variant-A;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Variant A aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CGTTGATGCCGT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcgttgatgccgtAGATCGAGACCCGACGC chr11:102726646-Variant-A;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative C aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AGACGAAGTGTT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAagacgaagtgttAGATCGAGACCCGACGC chr11:102726646-Alternative-C;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative C aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AGTTACGTTGCA CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAagttacgttgcaAGATCGAGACCCGACGC chr11:102726646-Alternative-C;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative G aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca ATCAAGACCGAT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAatcaagaccgatAGATCGAGACCCGACGC chr11:102726646-Alternative-G;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative C aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca GATGTCCGCTGA CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaCtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAgatgtccgctgaAGATCGAGACCCGACGC chr11:102726646-Alternative-C;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Reference T aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AGCAACGCGAGA CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAagcaacgcgagaAGATCGAGACCCGACGC chr11:102726646-Reference-T;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Variant A aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CTTGAAGGTGTT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAActtgaaggtgttAGATCGAGACCCGACGC chr11:102726646-Variant-A;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative G aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CACTTAGTGCGC CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcacttagtgcgcAGATCGAGACCCGACGC chr11:102726646-Alternative-G;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative G aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca ATCGGCGTCTTC CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAatcggcgtcttcAGATCGAGACCCGACGC chr11:102726646-Alternative-G;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Reference T aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CGCCGGCATATT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcgccggcatattAGATCGAGACCCGACGC chr11:102726646-Reference-T;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative G aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CAAGTAACGTGC CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcaagtaacgtgcAGATCGAGACCCGACGC chr11:102726646-Alternative-G;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Reference T aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca GAGGTGTAACCG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAgaggtgtaaccgAGATCGAGACCCGACGC chr11:102726646-Reference-T;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Reference T aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca CAGGCTGATGAG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAcaggctgatgagAGATCGAGACCCGACGC chr11:102726646-Reference-T;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Alternative G aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AATGCGGATGTT CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaGtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAaatgcggatgttAGATCGAGACCCGACGC chr11:102726646-Alternative-G;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Reference T aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca AAGCAACCGGCA CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaTtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAaagcaaccggcaAGATCGAGACCCGACGC chr11:102726646-Reference-T;Patient-44 chr11:102726646-TA Inherited Patient-44 intergenic NA 0.000513 0.14 5 1.34 MMP3 12303 Variant A aggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatca GACGGCTAATCG CGACGCGGTCTCTCTCTaggcttgtttttatttaacctgattcagaacacacccagtgcaatcaacaAtttcccaggtcatttgtcaaaaacaatcagcagtagttgtttaacatcaAGAGGGAGACGGACGTCTCAATAAgacggctaatcgAGATCGAGACCCGACGC chr11:102726646-Variant-A;Patient-44 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Variant C tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GCATCAGGCATC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgcatcaggcatcAGATCGAGACCCGACGC chr11:102798575-Variant-C;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Variant C tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GTCGCGCATGAA CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgtcgcgcatgaaAGATCGAGACCCGACGC chr11:102798575-Variant-C;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Variant C tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa ATTACTCGTGCT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAattactcgtgctAGATCGAGACCCGACGC chr11:102798575-Variant-C;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Variant C tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GCGAATCCGAAC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgcgaatccgaacAGATCGAGACCCGACGC chr11:102798575-Variant-C;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Variant C tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa AAGATCGTATGG CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacCactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAaagatcgtatggAGATCGAGACCCGACGC chr11:102798575-Variant-C;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative G tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GGCTGACAGGAT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAggctgacaggatAGATCGAGACCCGACGC chr11:102798575-Alternative-G;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Reference A tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GTTCTAAGCATC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgttctaagcatcAGATCGAGACCCGACGC chr11:102798575-Reference-A;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative T tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa AGTGCTTCTTGT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAagtgcttcttgtAGATCGAGACCCGACGC chr11:102798575-Alternative-T;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative G tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa AATAATGCCGCT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAaataatgccgctAGATCGAGACCCGACGC chr11:102798575-Alternative-G;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative G tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa AAGCGCAACGTC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAaagcgcaacgtcAGATCGAGACCCGACGC chr11:102798575-Alternative-G;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative G tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa ACGCAAGATCAT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAacgcaagatcatAGATCGAGACCCGACGC chr11:102798575-Alternative-G;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative T tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GTTACCGTCGTC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgttaccgtcgtcAGATCGAGACCCGACGC chr11:102798575-Alternative-T;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative T tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa ATCATCTTGCGA CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAatcatcttgcgaAGATCGAGACCCGACGC chr11:102798575-Alternative-T;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Reference A tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa CTAAGGCACGAA CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAActaaggcacgaaAGATCGAGACCCGACGC chr11:102798575-Reference-A;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Reference A tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa GTATTCTGGCAA CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAgtattctggcaaAGATCGAGACCCGACGC chr11:102798575-Reference-A;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative G tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa CATCTAATCGGT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacGactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAcatctaatcggtAGATCGAGACCCGACGC chr11:102798575-Alternative-G;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Reference A tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa CTAAGATTGCGG CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAActaagattgcggAGATCGAGACCCGACGC chr11:102798575-Reference-A;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative T tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa ATATACGCCAGT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAatatacgccagtAGATCGAGACCCGACGC chr11:102798575-Alternative-T;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Alternative T tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa AGACGCGCTGAT CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacTactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAagacgcgctgatAGATCGAGACCCGACGC chr11:102798575-Alternative-T;Patient-54 chr11:102798575-AC Inherited Patient-54 intergenic NA 0.000513 0.08 3.94 1.77 MMP3 84232 Reference A tgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaa CGTTATGCCGTC CGACGCGGTCTCTCTCTtgggcaaccagctgggtggaggaggggaggaacaggaatctgtcaaaaacAactgtgaagttttggatttgtgtgacaaaaccaaaaatagtactaggaaAGAGGGAGACGGACGTCTCAATAAcgttatgccgtcAGATCGAGACCCGACGC chr11:102798575-Reference-A;Patient-54 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Reference G gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactact GGACATATACAG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAggacatatacagAGATCGAGACCCGACGC chr11:103832389-Reference-G;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Reference G gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactact ATTGGCGCAGTC CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAattggcgcagtcAGATCGAGACCCGACGC chr11:103832389-Reference-G;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Reference G gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactact AATCGATTCTGG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAaatcgattctggAGATCGAGACCCGACGC chr11:103832389-Reference-G;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative T gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactact ACTCGGATTCTT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAactcggattcttAGATCGAGACCCGACGC chr11:103832389-Alternative-T;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative T gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactact GTCGTTCCGACT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgtcgttccgactAGATCGAGACCCGACGC chr11:103832389-Alternative-T;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative T gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactact GATCCTTGTAGA CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgatccttgtagaAGATCGAGACCCGACGC chr11:103832389-Alternative-T;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Reference G gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactact AAGGAACGCACG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAaaggaacgcacgAGATCGAGACCCGACGC chr11:103832389-Reference-G;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Variant A gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactact AAGGTATCCTAC CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAaaggtatcctacAGATCGAGACCCGACGC chr11:103832389-Variant-A;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Variant A gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactact GTACCTGCTCGT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgtacctgctcgtAGATCGAGACCCGACGC chr11:103832389-Variant-A;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Reference G gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactact GTAATTCGGCGC CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcGattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgtaattcggcgcAGATCGAGACCCGACGC chr11:103832389-Reference-G;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative T gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactact ACGACGAGCACA CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAacgacgagcacaAGATCGAGACCCGACGC chr11:103832389-Alternative-T;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Variant A gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactact CAATGGAATGGT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAcaatggaatggtAGATCGAGACCCGACGC chr11:103832389-Variant-A;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative T gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactact GCCAACACCAAG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcTattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgccaacaccaagAGATCGAGACCCGACGC chr11:103832389-Alternative-T;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Variant A gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactact ATTCTCGAGCAA CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAattctcgagcaaAGATCGAGACCCGACGC chr11:103832389-Variant-A;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative C gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactact GGCTTGGCGTAT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAggcttggcgtatAGATCGAGACCCGACGC chr11:103832389-Alternative-C;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Variant A gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactact GCCGATTGACTA CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcAattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgccgattgactaAGATCGAGACCCGACGC chr11:103832389-Variant-A;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative C gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactact GCGCATGGTATT CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgcgcatggtattAGATCGAGACCCGACGC chr11:103832389-Alternative-C;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative C gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactact CTCAATGCTAAG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAActcaatgctaagAGATCGAGACCCGACGC chr11:103832389-Alternative-C;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative C gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactact GATCCGAGCCAA CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAgatccgagccaaAGATCGAGACCCGACGC chr11:103832389-Alternative-C;Patient-80 chr11:103832389-GA DeNovo Patient-80 intronic PDGFD 3.2e-05 3.84e-05 -0.07 1.72 0.52 DDI1 74918 Alternative C gaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactact CAACGGCATTCG CGACGCGGTCTCTCTCTgaggatcctgaagaccacacttgggattttttcttaatcatctattcagcCattcatttaatcatttgttcaacaggtatttatggcttccactactactAGAGGGAGACGGACGTCTCAATAAcaacggcattcgAGATCGAGACCCGACGC chr11:103832389-Alternative-C;Patient-80 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative T tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CGTTGGTCAATA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcgttggtcaataAGATCGAGACCCGACGC chr11:104003497-Alternative-T;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Reference G tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CTCTCTTGTACT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAActctcttgtactAGATCGAGACCCGACGC chr11:104003497-Reference-G;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative T tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CAACTCTACGCG CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcaactctacgcgAGATCGAGACCCGACGC chr11:104003497-Alternative-T;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Reference G tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc ACTCGCTTCACG CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAactcgcttcacgAGATCGAGACCCGACGC chr11:104003497-Reference-G;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Variant C tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CACTAGTCGTCT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcactagtcgtctAGATCGAGACCCGACGC chr11:104003497-Variant-C;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative A tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc ACTGGTATGCTA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAactggtatgctaAGATCGAGACCCGACGC chr11:104003497-Alternative-A;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Reference G tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc GCGACATGACCT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAgcgacatgacctAGATCGAGACCCGACGC chr11:104003497-Reference-G;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative T tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc AGCCTTCGTCGT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAagccttcgtcgtAGATCGAGACCCGACGC chr11:104003497-Alternative-T;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Variant C tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc AACACAACGGAA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAaacacaacggaaAGATCGAGACCCGACGC chr11:104003497-Variant-C;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative A tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CAACGTAGACTT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcaacgtagacttAGATCGAGACCCGACGC chr11:104003497-Alternative-A;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Variant C tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CAGCTCTTAAGT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcagctcttaagtAGATCGAGACCCGACGC chr11:104003497-Variant-C;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Reference G tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc ACAATGCGCGAC CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAacaatgcgcgacAGATCGAGACCCGACGC chr11:104003497-Reference-G;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Reference G tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc AGATAGCACGGC CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaGtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAagatagcacggcAGATCGAGACCCGACGC chr11:104003497-Reference-G;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative T tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc AAGATACAGTCG CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAaagatacagtcgAGATCGAGACCCGACGC chr11:104003497-Alternative-T;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Variant C tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc ACCAACGAGATA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAaccaacgagataAGATCGAGACCCGACGC chr11:104003497-Variant-C;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Variant C tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc ACCGCTTCATTA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaCtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAaccgcttcattaAGATCGAGACCCGACGC chr11:104003497-Variant-C;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative A tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc GAATCGACTAGA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAgaatcgactagaAGATCGAGACCCGACGC chr11:104003497-Alternative-A;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative T tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc GGTGGCTACGAA CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaTtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAggtggctacgaaAGATCGAGACCCGACGC chr11:104003497-Alternative-T;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative A tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc AGGACCTACGAT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAaggacctacgatAGATCGAGACCCGACGC chr11:104003497-Alternative-A;Patient-36 chr11:104003497-GC DeNovo Patient-36 intronic PDGFD NA 4.95e-05 -0.14 1.06 -1.43 PDGFD 31529 Alternative A tttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaacc CGCCAGACTTCT CGACGCGGTCTCTCTCTtttctcatctaacccagaattcactgtgggacaggaaatggagattatgaAtacaattagttgatttttcaaaataaatcaacctccttaatactaaaccAGAGGGAGACGGACGTCTCAATAAcgccagacttctAGATCGAGACCCGACGC chr11:104003497-Alternative-A;Patient-36 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative G aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GACGAACTTCAT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgacgaacttcatAGATCGAGACCCGACGC chr11:106794382-Alternative-G;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Variant T aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GAATTGGTATCG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgaattggtatcgAGATCGAGACCCGACGC chr11:106794382-Variant-T;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Variant T aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GACCTGCAATTA CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgacctgcaattaAGATCGAGACCCGACGC chr11:106794382-Variant-T;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative G aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaag CTGTGCTCGTCA CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAActgtgctcgtcaAGATCGAGACCCGACGC chr11:106794382-Alternative-G;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative G aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GTTCGTGTGCGA CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgttcgtgtgcgaAGATCGAGACCCGACGC chr11:106794382-Alternative-G;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Variant T aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GGTTCGTTCGAG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAggttcgttcgagAGATCGAGACCCGACGC chr11:106794382-Variant-T;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative G aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaag ACGCTCGATAAT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAacgctcgataatAGATCGAGACCCGACGC chr11:106794382-Alternative-G;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Variant T aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GTTAGCTTGGCG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgttagcttggcgAGATCGAGACCCGACGC chr11:106794382-Variant-T;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative G aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaag AGCTCGGACGTT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatGttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAagctcggacgttAGATCGAGACCCGACGC chr11:106794382-Alternative-G;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Reference A aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GATCCTAGTCGC CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgatcctagtcgcAGATCGAGACCCGACGC chr11:106794382-Reference-A;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Variant T aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GCCGTACTTACA CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatTttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgccgtacttacaAGATCGAGACCCGACGC chr11:106794382-Variant-T;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Reference A aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaag ATTATCACGCCT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAattatcacgcctAGATCGAGACCCGACGC chr11:106794382-Reference-A;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative C aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaag CTGCGATTGCCT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAActgcgattgcctAGATCGAGACCCGACGC chr11:106794382-Alternative-C;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative C aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaag AACAAGGACGCG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAaacaaggacgcgAGATCGAGACCCGACGC chr11:106794382-Alternative-C;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Reference A aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaag ACTGTTCACACT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAactgttcacactAGATCGAGACCCGACGC chr11:106794382-Reference-A;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Reference A aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GCGATAATTAGG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgcgataattaggAGATCGAGACCCGACGC chr11:106794382-Reference-A;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Reference A aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaag GCGTGTTGATGC CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatAttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAgcgtgttgatgcAGATCGAGACCCGACGC chr11:106794382-Reference-A;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative C aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaag AAGCGGCTCGAA CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAaagcggctcgaaAGATCGAGACCCGACGC chr11:106794382-Alternative-C;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative C aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaag AGACGTACGAGT CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAagacgtacgagtAGATCGAGACCCGACGC chr11:106794382-Alternative-C;Patient-84 chr11:106794382-AT Inherited Patient-84 intronic GUCY1A2 0.000127 4.95e-05 -0.01 2.5 1.56 GUCY1A2 94788 Alternative C aaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaag CGAGATAGTCGG CGACGCGGTCTCTCTCTaaaaaggtacattaggagaaagattttttttaatttttactttagcaaatCttgacatataaaagggggatggtaacaatatatgaaaactatattgaagAGAGGGAGACGGACGTCTCAATAAcgagatagtcggAGATCGAGACCCGACGC chr11:106794382-Alternative-C;Patient-84 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative G ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GCCGTAACCATT CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAgccgtaaccattAGATCGAGACCCGACGC chr11:106912059-Alternative-G;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative T ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga CTACGTCTGGCA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAActacgtctggcaAGATCGAGACCCGACGC chr11:106912059-Alternative-T;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative G ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GATTGGCGATTA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAgattggcgattaAGATCGAGACCCGACGC chr11:106912059-Alternative-G;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative T ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GGTGTAACCAGG CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAggtgtaaccaggAGATCGAGACCCGACGC chr11:106912059-Alternative-T;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative T ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GGATGGCTTGTC CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAggatggcttgtcAGATCGAGACCCGACGC chr11:106912059-Alternative-T;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative G ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga AATAGCTGATGG CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAaatagctgatggAGATCGAGACCCGACGC chr11:106912059-Alternative-G;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Variant C ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga CTGAGGCGTCAA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAActgaggcgtcaaAGATCGAGACCCGACGC chr11:106912059-Variant-C;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Variant C ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga AGTCGACTTGAT CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAagtcgacttgatAGATCGAGACCCGACGC chr11:106912059-Variant-C;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative T ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GGTTGAGAATCA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAggttgagaatcaAGATCGAGACCCGACGC chr11:106912059-Alternative-T;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Reference A ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GTTACACCAACC CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAgttacaccaaccAGATCGAGACCCGACGC chr11:106912059-Reference-A;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Variant C ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga CGAACTAGCGCA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAcgaactagcgcaAGATCGAGACCCGACGC chr11:106912059-Variant-C;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative G ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga ATACGTTCGAGA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAatacgttcgagaAGATCGAGACCCGACGC chr11:106912059-Alternative-G;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative G ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga AATAAGGCGGAT CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaGgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAaataaggcggatAGATCGAGACCCGACGC chr11:106912059-Alternative-G;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Alternative T ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga AAGTAGCCATCA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaTgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAaagtagccatcaAGATCGAGACCCGACGC chr11:106912059-Alternative-T;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Variant C ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GACGACATCTAT CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAgacgacatctatAGATCGAGACCCGACGC chr11:106912059-Variant-C;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Reference A ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga CACTATTGGCCG CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAcactattggccgAGATCGAGACCCGACGC chr11:106912059-Reference-A;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Variant C ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga AATAGGATGCAC CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaCgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAaataggatgcacAGATCGAGACCCGACGC chr11:106912059-Variant-C;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Reference A ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga ATTGAACGGCAT CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAattgaacggcatAGATCGAGACCCGACGC chr11:106912059-Reference-A;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Reference A ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga GGACATTAGACA CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAggacattagacaAGATCGAGACCCGACGC chr11:106912059-Reference-A;Patient-15 chr11:106912059-AC DeNovo Patient-15 intergenic NA 3.92e-05 0.03 3.16 0.21 GUCY1A2 22887 Reference A ggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtaga CGTCGACGTAAC CGACGCGGTCTCTCTCTggtgactcatttttctcactgctctttgcatgtctgtgaatgaccacaaaAgtgatacaagtactgattgtggggttgcaaataaattttaatgagtagaAGAGGGAGACGGACGTCTCAATAAcgtcgacgtaacAGATCGAGACCCGACGC chr11:106912059-Reference-A;Patient-15 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Variant T tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CGACAGCACGTT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAcgacagcacgttAGATCGAGACCCGACGC chr11:106918692-Variant-T;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Reference G tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg GATGCACTCTAA CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgatgcactctaaAGATCGAGACCCGACGC chr11:106918692-Reference-G;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Variant T tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CTTATGGCTGTT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAActtatggctgttAGATCGAGACCCGACGC chr11:106918692-Variant-T;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Reference G tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg ATCGATTGGTCT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAatcgattggtctAGATCGAGACCCGACGC chr11:106918692-Reference-G;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Reference G tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg GAGCTCGTAATT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgagctcgtaattAGATCGAGACCCGACGC chr11:106918692-Reference-G;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Variant T tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CGGTACTACGTC CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAcggtactacgtcAGATCGAGACCCGACGC chr11:106918692-Variant-T;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Reference G tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg GTCGATACAACC CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgtcgatacaaccAGATCGAGACCCGACGC chr11:106918692-Reference-G;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Variant T tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg GTTATGGTCGCG CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgttatggtcgcgAGATCGAGACCCGACGC chr11:106918692-Variant-T;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Variant T tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg AGCACGACGCAA CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactTcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAagcacgacgcaaAGATCGAGACCCGACGC chr11:106918692-Variant-T;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative A tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaagg GCATCAACATCA CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgcatcaacatcaAGATCGAGACCCGACGC chr11:106918692-Alternative-A;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative C tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg ACGTCGCGTTCA CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAacgtcgcgttcaAGATCGAGACCCGACGC chr11:106918692-Alternative-C;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative C tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CTCGGAGCTCTT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAActcggagctcttAGATCGAGACCCGACGC chr11:106918692-Alternative-C;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Reference G tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CACATTGTCCAT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactGcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAcacattgtccatAGATCGAGACCCGACGC chr11:106918692-Reference-G;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative C tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg AATAGCCGGATT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAaatagccggattAGATCGAGACCCGACGC chr11:106918692-Alternative-C;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative A tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaagg AAGATAGGCCGG CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAaagataggccggAGATCGAGACCCGACGC chr11:106918692-Alternative-A;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative C tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg CGAGCTCTAACC CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAcgagctctaaccAGATCGAGACCCGACGC chr11:106918692-Alternative-C;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative A tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaagg GCCGGATAGGAT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAgccggataggatAGATCGAGACCCGACGC chr11:106918692-Alternative-A;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative C tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaagg GGAGGTAGGCTT CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactCcttaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAggaggtaggcttAGATCGAGACCCGACGC chr11:106918692-Alternative-C;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative A tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaagg GGACAGCTGACA CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAggacagctgacaAGATCGAGACCCGACGC chr11:106918692-Alternative-A;Patient-43 chr11:106918692-GT DeNovo Patient-43 intergenic 0.000191 0.000513 -0.21 0.67 -1.52 GUCY1A2 29520 Alternative A tttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaagg ACATAGCGTGCG CGACGCGGTCTCTCTCTtttctagaggatccctttgtaaagcacaaataagctgacgtaattccactActtaaaatcccattttggtttcccactgcacttagattaaaactaaaggAGAGGGAGACGGACGTCTCAATAAacatagcgtgcgAGATCGAGACCCGACGC chr11:106918692-Alternative-A;Patient-43 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative C catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GGCTGCGAAGAT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAggctgcgaagatAGATCGAGACCCGACGC chr11:108495646-Alternative-C;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative C catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GCGTTGGCATCA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgcgttggcatcaAGATCGAGACCCGACGC chr11:108495646-Alternative-C;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative C catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaat ACGAACCTTCTT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAacgaaccttcttAGATCGAGACCCGACGC chr11:108495646-Alternative-C;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Reference G catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaat AATAAGGCGCTT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAaataaggcgcttAGATCGAGACCCGACGC chr11:108495646-Reference-G;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative C catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaat CGCGTAGCTTGT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAcgcgtagcttgtAGATCGAGACCCGACGC chr11:108495646-Alternative-C;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Variant A catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaat CGTTCACGACAG CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAcgttcacgacagAGATCGAGACCCGACGC chr11:108495646-Variant-A;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative C catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GTGCGAACATAA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagCggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgtgcgaacataaAGATCGAGACCCGACGC chr11:108495646-Alternative-C;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Reference G catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GTAACGTATGAG CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgtaacgtatgagAGATCGAGACCCGACGC chr11:108495646-Reference-G;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Variant A catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GTAGCTTATGGT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgtagcttatggtAGATCGAGACCCGACGC chr11:108495646-Variant-A;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative T catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaat AGACCTAAGTCT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAagacctaagtctAGATCGAGACCCGACGC chr11:108495646-Alternative-T;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative T catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GAGCAGTAACCT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgagcagtaacctAGATCGAGACCCGACGC chr11:108495646-Alternative-T;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Reference G catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GAGAGTAACGCA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgagagtaacgcaAGATCGAGACCCGACGC chr11:108495646-Reference-G;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Variant A catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaat ATCGTCGATAGT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAatcgtcgatagtAGATCGAGACCCGACGC chr11:108495646-Variant-A;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Variant A catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GACAGTATCGTT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgacagtatcgttAGATCGAGACCCGACGC chr11:108495646-Variant-A;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Reference G catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaat CTGAATCGGATA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAActgaatcggataAGATCGAGACCCGACGC chr11:108495646-Reference-G;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Reference G catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaat CATTGTACTACC CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagGggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAcattgtactaccAGATCGAGACCCGACGC chr11:108495646-Reference-G;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative T catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaat AACAGAGGCAGT CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAaacagaggcagtAGATCGAGACCCGACGC chr11:108495646-Alternative-T;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative T catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GATACGGTTAAG CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgatacggttaagAGATCGAGACCCGACGC chr11:108495646-Alternative-T;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Alternative T catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GTAACCACACCA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagTggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgtaaccacaccaAGATCGAGACCCGACGC chr11:108495646-Alternative-T;Patient-71 chr11:108495646-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.02 2.4 0.66 EXPH5 31271 Variant A catggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaat GCGCTGATGAGA CGACGCGGTCTCTCTCTcatggtttctctcttacaaaaaggaagacaagtaggtacggagaaattagAggcagcaatagcattgagaggataagtcatcatctgtattataggtaatAGAGGGAGACGGACGTCTCAATAAgcgctgatgagaAGATCGAGACCCGACGC chr11:108495646-Variant-A;Patient-71 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Variant G gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggc GATGTGAATCAG CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAgatgtgaatcagAGATCGAGACCCGACGC chr11:10916250-Variant-G;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Variant G gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CAAGTTAGGAAC CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcaagttaggaacAGATCGAGACCCGACGC chr11:10916250-Variant-G;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Variant G gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CAACATAGTAGG CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcaacatagtaggAGATCGAGACCCGACGC chr11:10916250-Variant-G;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Variant G gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggc AGTCTATGGAGA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAagtctatggagaAGATCGAGACCCGACGC chr11:10916250-Variant-G;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative C gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggc AGTCGAATTCGT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAagtcgaattcgtAGATCGAGACCCGACGC chr11:10916250-Alternative-C;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative C gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CGTTGGATGTAA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcgttggatgtaaAGATCGAGACCCGACGC chr11:10916250-Alternative-C;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Reference A gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggc AACTCGGTTGTT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAaactcggttgttAGATCGAGACCCGACGC chr11:10916250-Reference-A;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative C gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggc ACAGATCAAGTC CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAacagatcaagtcAGATCGAGACCCGACGC chr11:10916250-Alternative-C;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative C gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CATCGGCGTAGA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcatcggcgtagaAGATCGAGACCCGACGC chr11:10916250-Alternative-C;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Reference A gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggc ATCACCAAGCGG CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAatcaccaagcggAGATCGAGACCCGACGC chr11:10916250-Reference-A;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Reference A gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CGTACGCGAGTT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcgtacgcgagttAGATCGAGACCCGACGC chr11:10916250-Reference-A;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative C gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggc AATGCGTGCGCA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggCagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAaatgcgtgcgcaAGATCGAGACCCGACGC chr11:10916250-Alternative-C;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Reference A gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggc GGCCGTAGTTCT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAggccgtagttctAGATCGAGACCCGACGC chr11:10916250-Reference-A;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Variant G gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggc GATGCTGACGAG CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggGagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAgatgctgacgagAGATCGAGACCCGACGC chr11:10916250-Variant-G;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative T gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggc AGGTTGGAATCA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAaggttggaatcaAGATCGAGACCCGACGC chr11:10916250-Alternative-T;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative T gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CTAGTAGCGAAT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAActagtagcgaatAGATCGAGACCCGACGC chr11:10916250-Alternative-T;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Reference A gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggc CAGTATATGGCG CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggAagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAcagtatatggcgAGATCGAGACCCGACGC chr11:10916250-Reference-A;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative T gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggc ATCATCACGCTA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAatcatcacgctaAGATCGAGACCCGACGC chr11:10916250-Alternative-T;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative T gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggc ATCGTTGACAGT CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAatcgttgacagtAGATCGAGACCCGACGC chr11:10916250-Alternative-T;Patient-36 chr11:10916250-AG DeNovo Patient-36 intergenic 6.4e-05 0.000512821 0.14 4.85 1.39 EIF4G2 85667 Alternative T gctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggc GGACCTATAGCA CGACGCGGTCTCTCTCTgctcacagtagggcatagtactgcttttaggttgcagaggcaaaactgggTagccattactggaactcaaagagagaagatgtatggagaagctgcaggcAGAGGGAGACGGACGTCTCAATAAggacctatagcaAGATCGAGACCCGACGC chr11:10916250-Alternative-T;Patient-36 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Reference G ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CACGGCAACGTT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcacggcaacgttAGATCGAGACCCGACGC chr11:110151266-Reference-G;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative T ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CACAGCTATTCT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcacagctattctAGATCGAGACCCGACGC chr11:110151266-Alternative-T;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Reference G ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CTAACGCATCGC CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAActaacgcatcgcAGATCGAGACCCGACGC chr11:110151266-Reference-G;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative T ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa ATCTCCGACGTC CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAatctccgacgtcAGATCGAGACCCGACGC chr11:110151266-Alternative-T;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Reference G ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CGAACCTTGATA CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcgaaccttgataAGATCGAGACCCGACGC chr11:110151266-Reference-G;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Reference G ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa AATAGGACGGTT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAaataggacggttAGATCGAGACCCGACGC chr11:110151266-Reference-G;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative T ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa AACCAACCGTGT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAaaccaaccgtgtAGATCGAGACCCGACGC chr11:110151266-Alternative-T;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Reference G ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa ACCTTCGTGTCG CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcGcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAaccttcgtgtcgAGATCGAGACCCGACGC chr11:110151266-Reference-G;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Variant A ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa GATTCGCATCGC CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAgattcgcatcgcAGATCGAGACCCGACGC chr11:110151266-Variant-A;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Variant A ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa GACGAGTCGAGT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAgacgagtcgagtAGATCGAGACCCGACGC chr11:110151266-Variant-A;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative T ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa GTCCGGTAGGTT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAgtccggtaggttAGATCGAGACCCGACGC chr11:110151266-Alternative-T;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Variant A ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa ATTACTCCGTCA CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAattactccgtcaAGATCGAGACCCGACGC chr11:110151266-Variant-A;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative C ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa AGCTCTAGTAGT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAagctctagtagtAGATCGAGACCCGACGC chr11:110151266-Alternative-C;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative T ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CGTATGGCTAAT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcTcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcgtatggctaatAGATCGAGACCCGACGC chr11:110151266-Alternative-T;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Variant A ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa GATAGACCTGCG CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAgatagacctgcgAGATCGAGACCCGACGC chr11:110151266-Variant-A;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative C ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CGTCGACTGACA CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcgtcgactgacaAGATCGAGACCCGACGC chr11:110151266-Alternative-C;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Variant A ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa ACTGTCTAACAG CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcAcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAactgtctaacagAGATCGAGACCCGACGC chr11:110151266-Variant-A;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative C ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CAAGGACACCTA CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcaaggacacctaAGATCGAGACCCGACGC chr11:110151266-Alternative-C;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative C ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa CGTCGTTCACGT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAcgtcgttcacgtAGATCGAGACCCGACGC chr11:110151266-Alternative-C;Patient-37 chr11:110151266-GA Inherited Patient-37 intronic RDX 0.000159 0.000159744 -0.2 0.72 -0.72 RDX 16170 Alternative C ctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaa ACGTTGTTGCTT CGACGCGGTCTCTCTCTctcccaactgtgcctcccaaagtgctaggattacaggcatgcgccactgcCcctggcttattttttcttcttgtaaatttgaaaatatgaatggagaaaaAGAGGGAGACGGACGTCTCAATAAacgttgttgcttAGATCGAGACCCGACGC chr11:110151266-Alternative-C;Patient-37 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Reference G ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat ACTCGCGGCTAT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAactcgcggctatAGATCGAGACCCGACGC chr11:111295126-Reference-G;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative C ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat AGCTAGCTAGAA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAagctagctagaaAGATCGAGACCCGACGC chr11:111295126-Alternative-C;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative C ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat AGGCCGATCACA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAaggccgatcacaAGATCGAGACCCGACGC chr11:111295126-Alternative-C;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative C ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat ACTTGACCAAGG CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAacttgaccaaggAGATCGAGACCCGACGC chr11:111295126-Alternative-C;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative C ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat AGAACCGTAGAA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAagaaccgtagaaAGATCGAGACCCGACGC chr11:111295126-Alternative-C;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Variant A ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat ATTCCGTCATGT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAattccgtcatgtAGATCGAGACCCGACGC chr11:111295126-Variant-A;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative C ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CGTGGTCATCGA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcCaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAcgtggtcatcgaAGATCGAGACCCGACGC chr11:111295126-Alternative-C;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Variant A ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat AATACGCAACCT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAaatacgcaacctAGATCGAGACCCGACGC chr11:111295126-Variant-A;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Reference G ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GCGGATATCGAG CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgcggatatcgagAGATCGAGACCCGACGC chr11:111295126-Reference-G;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Variant A ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GTACTTATACGG CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgtacttatacggAGATCGAGACCCGACGC chr11:111295126-Variant-A;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Variant A ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GCAGCGGAACTT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgcagcggaacttAGATCGAGACCCGACGC chr11:111295126-Variant-A;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative T ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CAGTAAGTCAGT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAcagtaagtcagtAGATCGAGACCCGACGC chr11:111295126-Alternative-T;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative T ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GCAAGCTACATA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgcaagctacataAGATCGAGACCCGACGC chr11:111295126-Alternative-T;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Variant A ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GAGCATGTTACA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcAaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgagcatgttacaAGATCGAGACCCGACGC chr11:111295126-Variant-A;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Reference G ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat AACGTATCAACG CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAaacgtatcaacgAGATCGAGACCCGACGC chr11:111295126-Reference-G;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative T ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat GACTGTAACCGC CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAgactgtaaccgcAGATCGAGACCCGACGC chr11:111295126-Alternative-T;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Reference G ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CATGTCCGTGCT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAcatgtccgtgctAGATCGAGACCCGACGC chr11:111295126-Reference-G;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative T ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CGGACTTCTAAT CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAcggacttctaatAGATCGAGACCCGACGC chr11:111295126-Alternative-T;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Alternative T ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CTCGTTCGACCA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcTaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAActcgttcgaccaAGATCGAGACCCGACGC chr11:111295126-Alternative-T;Patient-109 chr11:111295126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.01 2.45 0.62 POU2AF1 44968 Reference G ggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaat CGATACGTCTAA CGACGCGGTCTCTCTCTggagtcaagaggaacaccatggggtgagaaaggagatgatgagttaacgcGaaaatgctgggcgtcctgccccacaacttggcatggaattcacctcaatAGAGGGAGACGGACGTCTCAATAAcgatacgtctaaAGATCGAGACCCGACGC chr11:111295126-Reference-G;Patient-109 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Reference C gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca GTACTAGATAGG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAgtactagataggAGATCGAGACCCGACGC chr11:111324477-Reference-C;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Reference C gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca AACGCCTATCTA CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAaacgcctatctaAGATCGAGACCCGACGC chr11:111324477-Reference-C;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Reference C gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CGAGATTATGAG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcgagattatgagAGATCGAGACCCGACGC chr11:111324477-Reference-C;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Reference C gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CAGCAGTCAACA CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcagcagtcaacaAGATCGAGACCCGACGC chr11:111324477-Reference-C;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative A gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CGTTCCGAACAG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcgttccgaacagAGATCGAGACCCGACGC chr11:111324477-Alternative-A;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Reference C gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca ATAAGGCGTCAA CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcCgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAataaggcgtcaaAGATCGAGACCCGACGC chr11:111324477-Reference-C;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative A gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CGCTCTGAGCAT CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcgctctgagcatAGATCGAGACCCGACGC chr11:111324477-Alternative-A;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Variant T gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca ACAACGCCGTCT CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAacaacgccgtctAGATCGAGACCCGACGC chr11:111324477-Variant-T;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative A gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CAGTAGTCAACT CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcagtagtcaactAGATCGAGACCCGACGC chr11:111324477-Alternative-A;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative A gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca AATGAGGCTATC CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAaatgaggctatcAGATCGAGACCCGACGC chr11:111324477-Alternative-A;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Variant T gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca AGTCGAATAACG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAagtcgaataacgAGATCGAGACCCGACGC chr11:111324477-Variant-T;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative G gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca AGTGCGACCTAC CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAagtgcgacctacAGATCGAGACCCGACGC chr11:111324477-Alternative-G;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Variant T gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca GGACCTTGATCG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAggaccttgatcgAGATCGAGACCCGACGC chr11:111324477-Variant-T;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative G gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca GGAGTCAATATC CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAggagtcaatatcAGATCGAGACCCGACGC chr11:111324477-Alternative-G;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Variant T gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca AGTAGCTCTGCG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAagtagctctgcgAGATCGAGACCCGACGC chr11:111324477-Variant-T;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative G gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca ACTCGGCGACTA CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAactcggcgactaAGATCGAGACCCGACGC chr11:111324477-Alternative-G;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative A gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CGTGCGTTAATA CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcAgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcgtgcgttaataAGATCGAGACCCGACGC chr11:111324477-Alternative-A;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Variant T gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca GAGTGTTCCAAG CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcTgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAgagtgttccaagAGATCGAGACCCGACGC chr11:111324477-Variant-T;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative G gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca ACGTATACCAAC CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAacgtataccaacAGATCGAGACCCGACGC chr11:111324477-Alternative-G;Patient-50 chr11:111324477-CT DeNovo Patient-50 intergenic 9.6e-05 0.000160205 -0.31 0.33 -2.38 POU2AF1 74319 Alternative G gatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacaca CATTGGCCGGTT CGACGCGGTCTCTCTCTgatttgctcaaaaaatcttttctgagtggtactgtatgtcataacactgcGgggcactaggcataggcaatatagagcaggaaagagacatctaaacacaAGAGGGAGACGGACGTCTCAATAAcattggccggttAGATCGAGACCCGACGC chr11:111324477-Alternative-G;Patient-50 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative C aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg AGCGTTGTGCAC CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAagcgttgtgcacAGATCGAGACCCGACGC chr11:113311736-Alternative-C;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Variant A aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg AGTCAGTTAGGT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAagtcagttaggtAGATCGAGACCCGACGC chr11:113311736-Variant-A;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative C aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg AGCTGAACCTAC CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAagctgaacctacAGATCGAGACCCGACGC chr11:113311736-Alternative-C;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Variant A aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg AGCACGTCGTGT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAagcacgtcgtgtAGATCGAGACCCGACGC chr11:113311736-Variant-A;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative C aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GTTACAGGTACA CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgttacaggtacaAGATCGAGACCCGACGC chr11:113311736-Alternative-C;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative C aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GTTACAAGACCT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgttacaagacctAGATCGAGACCCGACGC chr11:113311736-Alternative-C;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative C aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CACGTAATGAGA CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctCtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAcacgtaatgagaAGATCGAGACCCGACGC chr11:113311736-Alternative-C;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative T aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg ACGAGCATCACT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAacgagcatcactAGATCGAGACCCGACGC chr11:113311736-Alternative-T;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative T aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GCAAGGCTTCGT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgcaaggcttcgtAGATCGAGACCCGACGC chr11:113311736-Alternative-T;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Reference G aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CGTTCTTAGTGT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAcgttcttagtgtAGATCGAGACCCGACGC chr11:113311736-Reference-G;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Variant A aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CACGACAGATCG CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAcacgacagatcgAGATCGAGACCCGACGC chr11:113311736-Variant-A;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Variant A aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg ACTCATTACGCT CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAactcattacgctAGATCGAGACCCGACGC chr11:113311736-Variant-A;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Variant A aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GACCTTGGATGC CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctAtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgaccttggatgcAGATCGAGACCCGACGC chr11:113311736-Variant-A;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative T aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg ACACTATACGGC CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAacactatacggcAGATCGAGACCCGACGC chr11:113311736-Alternative-T;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative T aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GAGATGCAACTA CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgagatgcaactaAGATCGAGACCCGACGC chr11:113311736-Alternative-T;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Alternative T aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CGGCAACTATCG CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctTtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAcggcaactatcgAGATCGAGACCCGACGC chr11:113311736-Alternative-T;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Reference G aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CGACGAATACGG CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAcgacgaatacggAGATCGAGACCCGACGC chr11:113311736-Reference-G;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Reference G aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg CTCAATCGGCCA CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAActcaatcggccaAGATCGAGACCCGACGC chr11:113311736-Reference-G;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Reference G aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg GATCAACATGAG CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAgatcaacatgagAGATCGAGACCCGACGC chr11:113311736-Reference-G;Patient-55 chr11:113311736-GA Inherited Patient-55 intronic DRD2 0.000541 0.00016 2.14 20.7 5.92 DRD2 34264 Reference G aatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtg AGTTCCATCCGG CGACGCGGTCTCTCTCTaatcagccttttgatgcactaagtgaagatgaattagcagtaatgaggctGtgacagctccctgaggcacaggttgacagagagagctttgatggctgtgAGAGGGAGACGGACGTCTCAATAAagttccatccggAGATCGAGACCCGACGC chr11:113311736-Reference-G;Patient-55 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative G agccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtccca GACTGAACGTCA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAgactgaacgtcaAGATCGAGACCCGACGC chr11:113352512-Alternative-G;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative G agccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtccca GACGTATCTGCG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAgacgtatctgcgAGATCGAGACCCGACGC chr11:113352512-Alternative-G;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative G agccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtccca ACTAGCGCAACG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAactagcgcaacgAGATCGAGACCCGACGC chr11:113352512-Alternative-G;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative G agccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtccca GTTGGTAGTCAA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAgttggtagtcaaAGATCGAGACCCGACGC chr11:113352512-Alternative-G;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Reference T agccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtccca AAGATAGTCCGA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAaagatagtccgaAGATCGAGACCCGACGC chr11:113352512-Reference-T;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative G agccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtccca CGGAGGATTACG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacGcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAcggaggattacgAGATCGAGACCCGACGC chr11:113352512-Alternative-G;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Reference T agccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtccca CAACTCGGAAGG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAcaactcggaaggAGATCGAGACCCGACGC chr11:113352512-Reference-T;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Reference T agccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtccca GACATTACGTGT CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAgacattacgtgtAGATCGAGACCCGACGC chr11:113352512-Reference-T;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Reference T agccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtccca CTGTGCGTATAA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAActgtgcgtataaAGATCGAGACCCGACGC chr11:113352512-Reference-T;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative A agccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtccca GGTAGCACAAGT CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAggtagcacaagtAGATCGAGACCCGACGC chr11:113352512-Alternative-A;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Reference T agccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtccca ACGCTCAAGTCG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacTcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAacgctcaagtcgAGATCGAGACCCGACGC chr11:113352512-Reference-T;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative A agccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtccca GGCCATCGTGTT CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAggccatcgtgttAGATCGAGACCCGACGC chr11:113352512-Alternative-A;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative A agccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtccca AGGTTCACGTGC CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAaggttcacgtgcAGATCGAGACCCGACGC chr11:113352512-Alternative-A;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative A agccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtccca ATTGTCATTCGG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAattgtcattcggAGATCGAGACCCGACGC chr11:113352512-Alternative-A;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Variant C agccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtccca CGCTACCGTAGA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAcgctaccgtagaAGATCGAGACCCGACGC chr11:113352512-Variant-C;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Alternative A agccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtccca AATGAGTCCGGC CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacAcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAaatgagtccggcAGATCGAGACCCGACGC chr11:113352512-Alternative-A;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Variant C agccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtccca ATATTACGACCG CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAatattacgaccgAGATCGAGACCCGACGC chr11:113352512-Variant-C;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Variant C agccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtccca GACCAATTATGC CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAgaccaattatgcAGATCGAGACCCGACGC chr11:113352512-Variant-C;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Variant C agccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtccca CGATAGGCTAAT CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAcgataggctaatAGATCGAGACCCGACGC chr11:113352512-Variant-C;Patient-94 chr11:113352512-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA DRD2 6510 Variant C agccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtccca ACAATGAGTCGA CGACGCGGTCTCTCTCTagccgagctctgcttattctactttctgaatgctacacagatccacccacCcactccacccccactgccaccactccagtccagccatcatcttgtcccaAGAGGGAGACGGACGTCTCAATAAacaatgagtcgaAGATCGAGACCCGACGC chr11:113352512-Variant-C;Patient-94 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative C gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac ATATTCCGCGCG CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAatattccgcgcgAGATCGAGACCCGACGC chr11:113373776-Alternative-C;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative T gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac ACGCATCCATAA CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAacgcatccataaAGATCGAGACCCGACGC chr11:113373776-Alternative-T;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Variant A gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GCGTACAAGCGA CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAgcgtacaagcgaAGATCGAGACCCGACGC chr11:113373776-Variant-A;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative T gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac CAATGCGTGCGT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAcaatgcgtgcgtAGATCGAGACCCGACGC chr11:113373776-Alternative-T;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative T gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac ATTGTACTCGTC CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAattgtactcgtcAGATCGAGACCCGACGC chr11:113373776-Alternative-T;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative C gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac AACAACGTTGCT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAaacaacgttgctAGATCGAGACCCGACGC chr11:113373776-Alternative-C;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative T gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac CGTAGGCTAGCT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAcgtaggctagctAGATCGAGACCCGACGC chr11:113373776-Alternative-T;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative T gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GATCCGGTTAGG CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcTtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAgatccggttaggAGATCGAGACCCGACGC chr11:113373776-Alternative-T;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Reference G gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GTTAAGTTACGG CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAgttaagttacggAGATCGAGACCCGACGC chr11:113373776-Reference-G;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative C gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GCGTTAATAGCT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAgcgttaatagctAGATCGAGACCCGACGC chr11:113373776-Alternative-C;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Reference G gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GCCGGTGACTAT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAgccggtgactatAGATCGAGACCCGACGC chr11:113373776-Reference-G;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Reference G gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac AGGCAATTAGCA CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAaggcaattagcaAGATCGAGACCCGACGC chr11:113373776-Reference-G;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative C gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac ATTAAGACGGCA CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAattaagacggcaAGATCGAGACCCGACGC chr11:113373776-Alternative-C;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Variant A gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac AACCGCTCATTC CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAaaccgctcattcAGATCGAGACCCGACGC chr11:113373776-Variant-A;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Variant A gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac CTGTCAACAACC CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAActgtcaacaaccAGATCGAGACCCGACGC chr11:113373776-Variant-A;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Alternative C gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac AAGATGTGCACA CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcCtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAaagatgtgcacaAGATCGAGACCCGACGC chr11:113373776-Alternative-C;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Variant A gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac CGATGTTGTACT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAcgatgttgtactAGATCGAGACCCGACGC chr11:113373776-Variant-A;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Variant A gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac CGAGTGTATTGT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcAtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAcgagtgtattgtAGATCGAGACCCGACGC chr11:113373776-Variant-A;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Reference G gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac ACTGAGTAGCTT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAactgagtagcttAGATCGAGACCCGACGC chr11:113373776-Reference-G;Patient-87 chr11:113373776-GA Inherited Patient-87 intergenic 0.000641 0.000512821 -0.75 0.01 -1.07 DRD2 27774 Reference G gtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggac GGATGCTACTAT CGACGCGGTCTCTCTCTgtgggctcctgtggtcccagctacttgggaggctgaggcaggagaatggcGtgaaactgggaggtggagcttgcagcgagccgagatcgcaccactggacAGAGGGAGACGGACGTCTCAATAAggatgctactatAGATCGAGACCCGACGC chr11:113373776-Reference-G;Patient-87 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative A tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtccc AGCTTACACGAG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAagcttacacgagAGATCGAGACCCGACGC chr11:113977613-Alternative-A;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative G tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtccc ACTTAGGCGTCC CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAacttaggcgtccAGATCGAGACCCGACGC chr11:113977613-Alternative-G;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative G tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtccc CTGTTCACGTCG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAActgttcacgtcgAGATCGAGACCCGACGC chr11:113977613-Alternative-G;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Variant T tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtccc CTATACGAATCG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAActatacgaatcgAGATCGAGACCCGACGC chr11:113977613-Variant-T;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative A tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtccc CTAGTCGAGTCG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAActagtcgagtcgAGATCGAGACCCGACGC chr11:113977613-Alternative-A;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Variant T tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtccc GAGATGCTTCAT CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAgagatgcttcatAGATCGAGACCCGACGC chr11:113977613-Variant-T;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative A tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtccc GGTTACCGGTCT CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAggttaccggtctAGATCGAGACCCGACGC chr11:113977613-Alternative-A;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Variant T tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtccc GTCATAACACAG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAgtcataacacagAGATCGAGACCCGACGC chr11:113977613-Variant-T;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Variant T tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtccc CTCTTACTCGAA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAActcttactcgaaAGATCGAGACCCGACGC chr11:113977613-Variant-T;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Variant T tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtccc ACTTACTATCGG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttTccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAacttactatcggAGATCGAGACCCGACGC chr11:113977613-Variant-T;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Reference C tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtccc CGATCCTGACAG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAcgatcctgacagAGATCGAGACCCGACGC chr11:113977613-Reference-C;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative A tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtccc AGAGCACACATA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAagagcacacataAGATCGAGACCCGACGC chr11:113977613-Alternative-A;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Reference C tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtccc GTGTCTCGTATT CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAgtgtctcgtattAGATCGAGACCCGACGC chr11:113977613-Reference-C;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative A tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtccc GATGGTGGTGCA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttAccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAgatggtggtgcaAGATCGAGACCCGACGC chr11:113977613-Alternative-A;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Reference C tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtccc ATAGGAGTTGAC CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAataggagttgacAGATCGAGACCCGACGC chr11:113977613-Reference-C;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Reference C tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtccc CTCTGCCATCAG CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAActctgccatcagAGATCGAGACCCGACGC chr11:113977613-Reference-C;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Reference C tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtccc CAATAGGTAGCA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttCccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAcaataggtagcaAGATCGAGACCCGACGC chr11:113977613-Reference-C;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative G tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtccc ACAAGCGCACCA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAacaagcgcaccaAGATCGAGACCCGACGC chr11:113977613-Alternative-G;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative G tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtccc GCCGCACTCTTA CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAgccgcactcttaAGATCGAGACCCGACGC chr11:113977613-Alternative-G;Patient-4 chr11:113977613-CT DeNovo Patient-4 intronic ZBTB16 NA 4.95e-05 0.11 4.42 2.39 ZBTB16 47181 Alternative G tgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtccc CGCCAGGACATT CGACGCGGTCTCTCTCTtgttgtgacttccctatggcattggtctttcttattttgtaatggaagttGccctgattccagaattttccctttataccagctctcatagcccagtcccAGAGGGAGACGGACGTCTCAATAAcgccaggacattAGATCGAGACCCGACGC chr11:113977613-Alternative-G;Patient-4 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative G actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct GGTAACGACCAT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAggtaacgaccatAGATCGAGACCCGACGC chr11:113979167-Alternative-G;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative A actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct GCATCGTACTGA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAgcatcgtactgaAGATCGAGACCCGACGC chr11:113979167-Alternative-A;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative G actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct GCAATCGAGTAC CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAgcaatcgagtacAGATCGAGACCCGACGC chr11:113979167-Alternative-G;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative G actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct CAACACCATGAG CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAcaacaccatgagAGATCGAGACCCGACGC chr11:113979167-Alternative-G;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Reference C actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct CGTCGTTCACCA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAcgtcgttcaccaAGATCGAGACCCGACGC chr11:113979167-Reference-C;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative G actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct AACGAGGCCGAA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAaacgaggccgaaAGATCGAGACCCGACGC chr11:113979167-Alternative-G;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Reference C actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct AACTCGTCATTC CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAaactcgtcattcAGATCGAGACCCGACGC chr11:113979167-Reference-C;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Variant T actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct AACGACCAATGA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAaacgaccaatgaAGATCGAGACCCGACGC chr11:113979167-Variant-T;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Reference C actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct CTATCTCGAGTT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAActatctcgagttAGATCGAGACCCGACGC chr11:113979167-Reference-C;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Reference C actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct CAGATATGCGGC CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAcagatatgcggcAGATCGAGACCCGACGC chr11:113979167-Reference-C;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative A actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct ATAGACCTTACG CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAatagaccttacgAGATCGAGACCCGACGC chr11:113979167-Alternative-A;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Variant T actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct CTGTCCTACGGT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAActgtcctacggtAGATCGAGACCCGACGC chr11:113979167-Variant-T;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative A actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct ACGTCGTCGTTC CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAacgtcgtcgttcAGATCGAGACCCGACGC chr11:113979167-Alternative-A;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Variant T actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct ATAGTCGCCACT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAatagtcgccactAGATCGAGACCCGACGC chr11:113979167-Variant-T;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative G actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct ACTCTAGGCTAA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaGgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAactctaggctaaAGATCGAGACCCGACGC chr11:113979167-Alternative-G;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Reference C actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct AGGCAATAATCG CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaCgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAaggcaataatcgAGATCGAGACCCGACGC chr11:113979167-Reference-C;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative A actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct ATCATGGCCGGT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAatcatggccggtAGATCGAGACCCGACGC chr11:113979167-Alternative-A;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Alternative A actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct GTCTCCAGTCGT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaAgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAgtctccagtcgtAGATCGAGACCCGACGC chr11:113979167-Alternative-A;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Variant T actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct GTAAGTGCGAAT CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAgtaagtgcgaatAGATCGAGACCCGACGC chr11:113979167-Variant-T;Patient-103 chr11:113979167-CT DeNovo Patient-103 intronic ZBTB16 NA 9.9e-05 -0.29 0.4 -3.18 ZBTB16 48735 Variant T actgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttct AACGCGCAGTCA CGACGCGGTCTCTCTCTactgcagcagtagtcacagtatctaatttttagagtgaaattgatggccaTgggcttatttgcaggtcttcttagtaattgctctctgtcttcttgttctAGAGGGAGACGGACGTCTCAATAAaacgcgcagtcaAGATCGAGACCCGACGC chr11:113979167-Variant-T;Patient-103 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Reference G tcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ATCGTCACCACG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAatcgtcaccacgAGATCGAGACCCGACGC chr11:114017329-Reference-G;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Reference G tcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ACCTAGATGGAA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAacctagatggaaAGATCGAGACCCGACGC chr11:114017329-Reference-G;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Reference G tcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ACGTAAGTCCGG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAacgtaagtccggAGATCGAGACCCGACGC chr11:114017329-Reference-G;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative A tcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ACTAACGATGCT CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAactaacgatgctAGATCGAGACCCGACGC chr11:114017329-Alternative-A;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative C tcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg AGTGTAATGCCA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAagtgtaatgccaAGATCGAGACCCGACGC chr11:114017329-Alternative-C;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative C tcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg GACCAATGTAGA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAgaccaatgtagaAGATCGAGACCCGACGC chr11:114017329-Alternative-C;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Variant T tcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg AGCATTCGACTA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAagcattcgactaAGATCGAGACCCGACGC chr11:114017329-Variant-T;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative C tcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg CTAGATAGATCG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAActagatagatcgAGATCGAGACCCGACGC chr11:114017329-Alternative-C;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative C tcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg GTCGCTCCATAC CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAgtcgctccatacAGATCGAGACCCGACGC chr11:114017329-Alternative-C;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative A tcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ACGGTGAGCTGA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAacggtgagctgaAGATCGAGACCCGACGC chr11:114017329-Alternative-A;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative A tcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg CTACAACGCGTC CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAActacaacgcgtcAGATCGAGACCCGACGC chr11:114017329-Alternative-A;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative C tcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg AAGTCGATACAG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggCaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAaagtcgatacagAGATCGAGACCCGACGC chr11:114017329-Alternative-C;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative A tcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg CGTCGTAATAGT CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAcgtcgtaatagtAGATCGAGACCCGACGC chr11:114017329-Alternative-A;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Reference G tcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg CGACGCTATACG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAcgacgctatacgAGATCGAGACCCGACGC chr11:114017329-Reference-G;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Alternative A tcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg CTACGAGGTGAA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggAaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAActacgaggtgaaAGATCGAGACCCGACGC chr11:114017329-Alternative-A;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Variant T tcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg AGCGTAAGTATC CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAagcgtaagtatcAGATCGAGACCCGACGC chr11:114017329-Variant-T;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Variant T tcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg ATCTGTATGTGG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAatctgtatgtggAGATCGAGACCCGACGC chr11:114017329-Variant-T;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Variant T tcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg AGGAGTCATCGG CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAaggagtcatcggAGATCGAGACCCGACGC chr11:114017329-Variant-T;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Reference G tcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg GACGTAGAATCA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggGaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAgacgtagaatcaAGATCGAGACCCGACGC chr11:114017329-Reference-G;Patient-55 chr11:114017329-GT DeNovo Patient-55 intronic ZBTB16 NA 4.95e-05 -0.22 0.64 -0.52 ZBTB16 86897 Variant T tcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctgg GCGATATCGTGA CGACGCGGTCTCTCTCTtcagttggggctaggcacggtggctcatacttgtaattccagcactttggTaggccgaggcgggtggatcgcttgaggtcaggagttggagacagcctggAGAGGGAGACGGACGTCTCAATAAgcgatatcgtgaAGATCGAGACCCGACGC chr11:114017329-Variant-T;Patient-55 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Reference T ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GGTGGATCGCTT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAggtggatcgcttAGATCGAGACCCGACGC chr11:115321872-Reference-T;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Reference T ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GGAGATCCAATC CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAggagatccaatcAGATCGAGACCCGACGC chr11:115321872-Reference-T;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Reference T ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc ACAACGCTCCAT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAacaacgctccatAGATCGAGACCCGACGC chr11:115321872-Reference-T;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative G ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GAAGATTGAACG CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAgaagattgaacgAGATCGAGACCCGACGC chr11:115321872-Alternative-G;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Variant C ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc AGTTGTGTTGGT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAagttgtgttggtAGATCGAGACCCGACGC chr11:115321872-Variant-C;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Reference T ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc CTTGGTAGCATA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAActtggtagcataAGATCGAGACCCGACGC chr11:115321872-Reference-T;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Variant C ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc AGGAACGCGTCT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAaggaacgcgtctAGATCGAGACCCGACGC chr11:115321872-Variant-C;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Reference T ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc CACTGAGTCACG CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaTagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAcactgagtcacgAGATCGAGACCCGACGC chr11:115321872-Reference-T;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative A ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GTACAGTGCACA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAgtacagtgcacaAGATCGAGACCCGACGC chr11:115321872-Alternative-A;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative A ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc AGTAGCGTCATA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAagtagcgtcataAGATCGAGACCCGACGC chr11:115321872-Alternative-A;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative A ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc ACTCACGTTCCA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAactcacgttccaAGATCGAGACCCGACGC chr11:115321872-Alternative-A;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Variant C ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc ACCATGGCTTAT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAaccatggcttatAGATCGAGACCCGACGC chr11:115321872-Variant-C;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative A ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc ACGAGCGACAAC CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAacgagcgacaacAGATCGAGACCCGACGC chr11:115321872-Alternative-A;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative G ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GTCATGACATCA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAgtcatgacatcaAGATCGAGACCCGACGC chr11:115321872-Alternative-G;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative A ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc AGGACTTACACG CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaAagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAaggacttacacgAGATCGAGACCCGACGC chr11:115321872-Alternative-A;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Variant C ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc AGACTGACGACG CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAagactgacgacgAGATCGAGACCCGACGC chr11:115321872-Variant-C;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Variant C ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GGACGTACCAAT CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaCagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAggacgtaccaatAGATCGAGACCCGACGC chr11:115321872-Variant-C;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative G ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc CAACCAAGGCCA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAcaaccaaggccaAGATCGAGACCCGACGC chr11:115321872-Alternative-G;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative G ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GCGTAACACATA CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAgcgtaacacataAGATCGAGACCCGACGC chr11:115321872-Alternative-G;Patient-25 chr11:115321872-TC DeNovo Patient-25 intronic CADM1 9.6e-05 0.000148 0.68 10.95 -10.6 CADM1 53368 Alternative G ttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtc GATTCACACGGC CGACGCGGTCTCTCTCTttttatgtcttctacacacatatgctagagcaatttccttctcccagagaGagaagggaggaaaatgtctaaacttcataataagcagccaattatagtcAGAGGGAGACGGACGTCTCAATAAgattcacacggcAGATCGAGACCCGACGC chr11:115321872-Alternative-G;Patient-25 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Reference G gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggag AGCAACCACGAT CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAagcaaccacgatAGATCGAGACCCGACGC chr11:11667693-Reference-G;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Reference G gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CAAGACTATGCT CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcaagactatgctAGATCGAGACCCGACGC chr11:11667693-Reference-G;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Variant A gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CGAGCATAATGA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcgagcataatgaAGATCGAGACCCGACGC chr11:11667693-Variant-A;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative T gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggag GATACGCATACT CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAgatacgcatactAGATCGAGACCCGACGC chr11:11667693-Alternative-T;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Reference G gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggag GAATGGTAACAC CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAgaatggtaacacAGATCGAGACCCGACGC chr11:11667693-Reference-G;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Variant A gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CGAATGTACGCA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcgaatgtacgcaAGATCGAGACCCGACGC chr11:11667693-Variant-A;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative T gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CGAACGTACGAA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcgaacgtacgaaAGATCGAGACCCGACGC chr11:11667693-Alternative-T;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Reference G gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CATCACCAACCG CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcatcaccaaccgAGATCGAGACCCGACGC chr11:11667693-Reference-G;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative T gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CTAAGAGAGCGT CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAActaagagagcgtAGATCGAGACCCGACGC chr11:11667693-Alternative-T;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative T gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggag ACTCTTGGAACA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAactcttggaacaAGATCGAGACCCGACGC chr11:11667693-Alternative-T;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Variant A gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggag GAGAGTACGGAG CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAgagagtacggagAGATCGAGACCCGACGC chr11:11667693-Variant-A;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative T gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CTTAGGTCGAAC CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcTgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAActtaggtcgaacAGATCGAGACCCGACGC chr11:11667693-Alternative-T;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative C gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggag GCCGTACGCTTA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAgccgtacgcttaAGATCGAGACCCGACGC chr11:11667693-Alternative-C;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Variant A gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggag AGGACGGTAAGG CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAaggacggtaaggAGATCGAGACCCGACGC chr11:11667693-Variant-A;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Variant A gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CGATTAGTCGGC CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcAgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcgattagtcggcAGATCGAGACCCGACGC chr11:11667693-Variant-A;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Reference G gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggag GAGGTAGTACTA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcGgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAgaggtagtactaAGATCGAGACCCGACGC chr11:11667693-Reference-G;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative C gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggag ACCTGGATCTGG CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAacctggatctggAGATCGAGACCCGACGC chr11:11667693-Alternative-C;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative C gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggag AACTCACGTCGC CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAaactcacgtcgcAGATCGAGACCCGACGC chr11:11667693-Alternative-C;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative C gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CATATAGCCTGA CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAAcatatagcctgaAGATCGAGACCCGACGC chr11:11667693-Alternative-C;Patient-88 chr11:11667693-GA DeNovo Patient-88 intergenic 9.6e-05 0.00103 0.05 3.49 2.77 GALNT18 24131 Alternative C gaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggag CTGCTAGTTATC CGACGCGGTCTCTCTCTgaataatttaaaacatacacacacacatagagaatgagaaaggagacatcCgcatataacagatttcaacaaatttttagaagattgaaagttgttggagAGAGGGAGACGGACGTCTCAATAActgctagttatcAGATCGAGACCCGACGC chr11:11667693-Alternative-C;Patient-88 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Reference G ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactct GTTATCGAACAG CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgttatcgaacagAGATCGAGACCCGACGC chr11:116921856-Reference-G;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative C ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactct GCCGCTTAGTCA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgccgcttagtcaAGATCGAGACCCGACGC chr11:116921856-Alternative-C;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Variant A ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactct CGTGCGATTAGG CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAcgtgcgattaggAGATCGAGACCCGACGC chr11:116921856-Variant-A;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Variant A ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactct ACTACGCTAACA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAactacgctaacaAGATCGAGACCCGACGC chr11:116921856-Variant-A;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Variant A ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactct ACTGCGGTTGTC CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAactgcggttgtcAGATCGAGACCCGACGC chr11:116921856-Variant-A;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Reference G ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactct GGCACGGACATA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAggcacggacataAGATCGAGACCCGACGC chr11:116921856-Reference-G;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative C ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactct GTCAGTACCTGG CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgtcagtacctggAGATCGAGACCCGACGC chr11:116921856-Alternative-C;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Reference G ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactct GTCGCGTTGCTA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgtcgcgttgctaAGATCGAGACCCGACGC chr11:116921856-Reference-G;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative C ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactct GGTGTACATTGT CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAggtgtacattgtAGATCGAGACCCGACGC chr11:116921856-Alternative-C;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative C ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactct ACCTTAGTCAGA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAaccttagtcagaAGATCGAGACCCGACGC chr11:116921856-Alternative-C;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Variant A ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactct GGTTACCGTAAT CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAggttaccgtaatAGATCGAGACCCGACGC chr11:116921856-Variant-A;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Variant A ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactct GGATGTATGTGA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaAcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAggatgtatgtgaAGATCGAGACCCGACGC chr11:116921856-Variant-A;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative C ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactct GACTATAAGGCA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaCcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgactataaggcaAGATCGAGACCCGACGC chr11:116921856-Alternative-C;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative T ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactct CGTGTTCGACGA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAcgtgttcgacgaAGATCGAGACCCGACGC chr11:116921856-Alternative-T;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative T ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactct CACTAGCCTAAT CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAcactagcctaatAGATCGAGACCCGACGC chr11:116921856-Alternative-T;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Reference G ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactct GATATCCGTAGA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgatatccgtagaAGATCGAGACCCGACGC chr11:116921856-Reference-G;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Reference G ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactct GGCTTGCGTTCA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaGcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAggcttgcgttcaAGATCGAGACCCGACGC chr11:116921856-Reference-G;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative T ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactct ACGAGACACATA CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAacgagacacataAGATCGAGACCCGACGC chr11:116921856-Alternative-T;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative T ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactct CAGGCTGTCTTC CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAcaggctgtcttcAGATCGAGACCCGACGC chr11:116921856-Alternative-T;Patient-36 chr11:116921856-GA DeNovo Patient-36 intronic SIK3 NA 4.95e-05 -0.2 0.7 -1.73 SIK3 47136 Alternative T ataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactct GTCCGCGATAGT CGACGCGGTCTCTCTCTataatctgtttacccttttccacccagagagagcaaacggcagaggaagaTcaaattcactctttcttcttgagctgggatatccatcttctcccactctAGAGGGAGACGGACGTCTCAATAAgtccgcgatagtAGATCGAGACCCGACGC chr11:116921856-Alternative-T;Patient-36 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Variant C tctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacac CGTCTTCGACCA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcgtcttcgaccaAGATCGAGACCCGACGC chr11:118150976-Variant-C;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Variant C tctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacac CGCGGATTAAGA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcgcggattaagaAGATCGAGACCCGACGC chr11:118150976-Variant-C;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Variant C tctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacac GCGCTCTTATGC CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgcgctcttatgcAGATCGAGACCCGACGC chr11:118150976-Variant-C;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Variant C tctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacac GGAACTAACGCG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAggaactaacgcgAGATCGAGACCCGACGC chr11:118150976-Variant-C;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Variant C tctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacac AACGTTGGTCGA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataCcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAaacgttggtcgaAGATCGAGACCCGACGC chr11:118150976-Variant-C;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative A tctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacac CATTAATTCGCG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcattaattcgcgAGATCGAGACCCGACGC chr11:118150976-Alternative-A;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative A tctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacac GAGATCGCGCAT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgagatcgcgcatAGATCGAGACCCGACGC chr11:118150976-Alternative-A;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative A tctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacac CAGACACATTCT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcagacacattctAGATCGAGACCCGACGC chr11:118150976-Alternative-A;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative A tctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacac ATCAATGCGGAT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAatcaatgcggatAGATCGAGACCCGACGC chr11:118150976-Alternative-A;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative A tctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacac AAGCGGCTAATA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataAcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAaagcggctaataAGATCGAGACCCGACGC chr11:118150976-Alternative-A;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Reference T tctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacac GTAACGTCGGAG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgtaacgtcggagAGATCGAGACCCGACGC chr11:118150976-Reference-T;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Reference T tctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacac GACAGTTGAACA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgacagttgaacaAGATCGAGACCCGACGC chr11:118150976-Reference-T;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Reference T tctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacac GACGTCTGTCCT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgacgtctgtcctAGATCGAGACCCGACGC chr11:118150976-Reference-T;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Reference T tctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacac ACTACGTATGGT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAactacgtatggtAGATCGAGACCCGACGC chr11:118150976-Reference-T;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Reference T tctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacac GCATACGAGCGA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataTcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgcatacgagcgaAGATCGAGACCCGACGC chr11:118150976-Reference-T;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative G tctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacac GATCGCGGCTAA CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAgatcgcggctaaAGATCGAGACCCGACGC chr11:118150976-Alternative-G;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative G tctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacac CTAGGTATGCAG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAActaggtatgcagAGATCGAGACCCGACGC chr11:118150976-Alternative-G;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative G tctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacac CGTCCATGCGAT CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcgtccatgcgatAGATCGAGACCCGACGC chr11:118150976-Alternative-G;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative G tctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacac CACACGAGAACG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAcacacgagaacgAGATCGAGACCCGACGC chr11:118150976-Alternative-G;Patient-30 chr11:118150976-TC Inherited Patient-30 intergenic 0.000733 0.000512821 NA NA NA CD3E 24318 Alternative G tctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacac ACAACACACGCG CGACGCGGTCTCTCTCTtctttatctacccacccaatattattttgaagcaaattgaagataccataGcattttgcccataaatataacttctgttaaaagataaactttggcacacAGAGGGAGACGGACGTCTCAATAAacaacacacgcgAGATCGAGACCCGACGC chr11:118150976-Alternative-G;Patient-30 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative T aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag AATCGTAGGTTC CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAaatcgtaggttcAGATCGAGACCCGACGC chr11:118292727-Alternative-T;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Reference G aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag AGCTGATAGCGG CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAagctgatagcggAGATCGAGACCCGACGC chr11:118292727-Reference-G;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Reference G aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GACCGTACTCGA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgaccgtactcgaAGATCGAGACCCGACGC chr11:118292727-Reference-G;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative T aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GCGAAGTAAGCG CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgcgaagtaagcgAGATCGAGACCCGACGC chr11:118292727-Alternative-T;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Reference G aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GTACACGACAAC CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgtacacgacaacAGATCGAGACCCGACGC chr11:118292727-Reference-G;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative T aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GTAGCTCGATAT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgtagctcgatatAGATCGAGACCCGACGC chr11:118292727-Alternative-T;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative T aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GTACCGCAATAT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgtaccgcaatatAGATCGAGACCCGACGC chr11:118292727-Alternative-T;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Variant A aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GATCACGACAGG CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgatcacgacaggAGATCGAGACCCGACGC chr11:118292727-Variant-A;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Variant A aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GAGTACGACGAC CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgagtacgacgacAGATCGAGACCCGACGC chr11:118292727-Variant-A;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Variant A aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag CGCGAGTGAATA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAcgcgagtgaataAGATCGAGACCCGACGC chr11:118292727-Variant-A;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Variant A aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag AGCGGTTCAGCT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAagcggttcagctAGATCGAGACCCGACGC chr11:118292727-Variant-A;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Variant A aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GTTCGATCGCCA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtAactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgttcgatcgccaAGATCGAGACCCGACGC chr11:118292727-Variant-A;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative C aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag CTGGTCGACAAC CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAActggtcgacaacAGATCGAGACCCGACGC chr11:118292727-Alternative-C;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Reference G aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag GATAGATCTCGA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAgatagatctcgaAGATCGAGACCCGACGC chr11:118292727-Reference-G;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative C aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag ATTACCTATCGC CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAattacctatcgcAGATCGAGACCCGACGC chr11:118292727-Alternative-C;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Reference G aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag CATCAAGGACTT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtGactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAcatcaaggacttAGATCGAGACCCGACGC chr11:118292727-Reference-G;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative C aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag AGGACGAGAACT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAaggacgagaactAGATCGAGACCCGACGC chr11:118292727-Alternative-C;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative C aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag ACGTTGGAATGA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAacgttggaatgaAGATCGAGACCCGACGC chr11:118292727-Alternative-C;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative T aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag CTTATCGGCCGT CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtTactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAActtatcggccgtAGATCGAGACCCGACGC chr11:118292727-Alternative-T;Patient-35 chr11:118292727-GA DeNovo Patient-35 intergenic NA 0.000513 0.16 5.28 0 KMT2A 14477 Alternative C aaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggag CGACTTCTAAGA CGACGCGGTCTCTCTCTaaaaaaaggtacatggaacatggcaaggaatggagactgtgaatgtaggtCactcttttcagaaatgtggctgttttttgtgtgtgtgtgtgagatggagAGAGGGAGACGGACGTCTCAATAAcgacttctaagaAGATCGAGACCCGACGC chr11:118292727-Alternative-C;Patient-35 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative A cagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag CTCGTTGGATGG CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAActcgttggatggAGATCGAGACCCGACGC chr11:118795093-Alternative-A;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Variant C cagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag ACAGAGATACAC CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAacagagatacacAGATCGAGACCCGACGC chr11:118795093-Variant-C;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative A cagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag CTCTTGATTCGA CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAActcttgattcgaAGATCGAGACCCGACGC chr11:118795093-Alternative-A;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative T cagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GCGTACTCAAGT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgcgtactcaagtAGATCGAGACCCGACGC chr11:118795093-Alternative-T;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative A cagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag AATGGTCACGGC CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAaatggtcacggcAGATCGAGACCCGACGC chr11:118795093-Alternative-A;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative A cagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag AGTCTCGCTCCT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAagtctcgctcctAGATCGAGACCCGACGC chr11:118795093-Alternative-A;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative A cagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GGATAGCCACCA CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagAgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAggatagccaccaAGATCGAGACCCGACGC chr11:118795093-Alternative-A;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Variant C cagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GACATCATGCAT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgacatcatgcatAGATCGAGACCCGACGC chr11:118795093-Variant-C;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Variant C cagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GACTAAGCATGA CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgactaagcatgaAGATCGAGACCCGACGC chr11:118795093-Variant-C;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Variant C cagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag ATTCCTATAGCG CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAattcctatagcgAGATCGAGACCCGACGC chr11:118795093-Variant-C;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Variant C cagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag ACAGCGTCGAGT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagCgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAacagcgtcgagtAGATCGAGACCCGACGC chr11:118795093-Variant-C;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative T cagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GTAGCGCGTACA CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgtagcgcgtacaAGATCGAGACCCGACGC chr11:118795093-Alternative-T;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Reference G cagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GGACGTATATGA CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAggacgtatatgaAGATCGAGACCCGACGC chr11:118795093-Reference-G;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative T cagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GCCTGGATTAAT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgcctggattaatAGATCGAGACCCGACGC chr11:118795093-Alternative-T;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative T cagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GCGATACCAACT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgcgataccaactAGATCGAGACCCGACGC chr11:118795093-Alternative-T;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Alternative T cagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GTATTCTGGTTC CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagTgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAgtattctggttcAGATCGAGACCCGACGC chr11:118795093-Alternative-T;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Reference G cagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag CTAGACATCGAC CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAActagacatcgacAGATCGAGACCCGACGC chr11:118795093-Reference-G;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Reference G cagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag ACATCATCCGAT CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAacatcatccgatAGATCGAGACCCGACGC chr11:118795093-Reference-G;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Reference G cagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GGACCATCATCG CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAggaccatcatcgAGATCGAGACCCGACGC chr11:118795093-Reference-G;Patient-87 chr11:118795093-GC Inherited Patient-87 intergenic 0.000256 0.001025641 1.87 17.97 3.57 BCL9L 13479 Reference G cagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtag GGCCGTAACAAC CGACGCGGTCTCTCTCTcagacacagacacacaccccaagcagtagacagaaagagaagggagagagGgggtgtcagaaaaacccggaaggaaggaagctggacagacagacagtagAGAGGGAGACGGACGTCTCAATAAggccgtaacaacAGATCGAGACCCGACGC chr11:118795093-Reference-G;Patient-87 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Reference C ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CGAAGTTGACGG CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAcgaagttgacggAGATCGAGACCCGACGC chr11:119391364-Reference-C;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Reference C ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AGGTACCTTCGA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaggtaccttcgaAGATCGAGACCCGACGC chr11:119391364-Reference-C;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Variant T ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttc GGTTAGTGCGCT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAggttagtgcgctAGATCGAGACCCGACGC chr11:119391364-Variant-T;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Variant T ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CGTTATGGTAGG CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAcgttatggtaggAGATCGAGACCCGACGC chr11:119391364-Variant-T;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Reference C ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CTCAAGGTCGAC CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAActcaaggtcgacAGATCGAGACCCGACGC chr11:119391364-Reference-C;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Variant T ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AGATAGCTTGGT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAagatagcttggtAGATCGAGACCCGACGC chr11:119391364-Variant-T;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Variant T ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AATCGTTACCGT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaatcgttaccgtAGATCGAGACCCGACGC chr11:119391364-Variant-T;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Variant T ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CTTAGTACGGAC CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgTacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAActtagtacggacAGATCGAGACCCGACGC chr11:119391364-Variant-T;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative A ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AAGTCGGCAGCA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaagtcggcagcaAGATCGAGACCCGACGC chr11:119391364-Alternative-A;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative G ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CTAGATTGCGGT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAActagattgcggtAGATCGAGACCCGACGC chr11:119391364-Alternative-G;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative A ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttc GGCGGACTCTAT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAggcggactctatAGATCGAGACCCGACGC chr11:119391364-Alternative-A;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative A ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttc GAGTATAAGCGT CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAgagtataagcgtAGATCGAGACCCGACGC chr11:119391364-Alternative-A;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Reference C ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AATGTGCAACGA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaatgtgcaacgaAGATCGAGACCCGACGC chr11:119391364-Reference-C;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Reference C ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AAGGTTCGTGAA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgCacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaaggttcgtgaaAGATCGAGACCCGACGC chr11:119391364-Reference-C;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative A ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttc GCGGAGTATCGA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAgcggagtatcgaAGATCGAGACCCGACGC chr11:119391364-Alternative-A;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative A ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AGCTGTGCATCG CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgAacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAagctgtgcatcgAGATCGAGACCCGACGC chr11:119391364-Alternative-A;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative G ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttc AAGCAATCGCGC CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAaagcaatcgcgcAGATCGAGACCCGACGC chr11:119391364-Alternative-G;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative G ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CATCTCGCCAAG CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAcatctcgccaagAGATCGAGACCCGACGC chr11:119391364-Alternative-G;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative G ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttc CTCTTGCATCGG CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAActcttgcatcggAGATCGAGACCCGACGC chr11:119391364-Alternative-G;Patient-55 chr11:119391364-CT Inherited Patient-55 intergenic NA 0.000513 0.01 2.7 0.76 THY1 97117 Alternative G ggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttc GCCACGCTTATA CGACGCGGTCTCTCTCTggcaggcatgtgggtggagggggtggtgtgtgggaggtggcagctccctgGacctggctctggggaatgggacccaccctaactacctgtctgcatcttcAGAGGGAGACGGACGTCTCAATAAgccacgcttataAGATCGAGACCCGACGC chr11:119391364-Alternative-G;Patient-55 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Reference C tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct GGAGTATGCTAA CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAggagtatgctaaAGATCGAGACCCGACGC chr11:119536681-Reference-C;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative A tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct GAGATGGAGAAG CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAgagatggagaagAGATCGAGACCCGACGC chr11:119536681-Alternative-A;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Reference C tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CACAACTCGTCT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAcacaactcgtctAGATCGAGACCCGACGC chr11:119536681-Reference-C;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative A tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AGTGACGGACCT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAagtgacggacctAGATCGAGACCCGACGC chr11:119536681-Alternative-A;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Reference C tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CTCAACGGTCAT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAActcaacggtcatAGATCGAGACCCGACGC chr11:119536681-Reference-C;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative A tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct ACATGCCACGAG CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAacatgccacgagAGATCGAGACCCGACGC chr11:119536681-Alternative-A;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative G tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CGGCTAATACGG CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAcggctaatacggAGATCGAGACCCGACGC chr11:119536681-Alternative-G;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Variant T tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AACACGGCTGAG CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAaacacggctgagAGATCGAGACCCGACGC chr11:119536681-Variant-T;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative G tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AAGCGCACCGTT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAaagcgcaccgttAGATCGAGACCCGACGC chr11:119536681-Alternative-G;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Variant T tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct ACGTACCGCATA CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAacgtaccgcataAGATCGAGACCCGACGC chr11:119536681-Variant-T;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Reference C tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AGGCACGATAAT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAaggcacgataatAGATCGAGACCCGACGC chr11:119536681-Reference-C;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Variant T tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CATCGGATAGTT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAcatcggatagttAGATCGAGACCCGACGC chr11:119536681-Variant-T;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Variant T tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AATGGCTCTCTT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAaatggctctcttAGATCGAGACCCGACGC chr11:119536681-Variant-T;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Reference C tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct ATAGACGAACCT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccCgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAatagacgaacctAGATCGAGACCCGACGC chr11:119536681-Reference-C;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative G tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct GATGAGTAGGTT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAgatgagtaggttAGATCGAGACCCGACGC chr11:119536681-Alternative-G;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Variant T tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CTCGTCATCGGT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccTgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAActcgtcatcggtAGATCGAGACCCGACGC chr11:119536681-Variant-T;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative G tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct CGTTCGCTGGAA CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAcgttcgctggaaAGATCGAGACCCGACGC chr11:119536681-Alternative-G;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative G tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AGTGTTACGAGA CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccGgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAagtgttacgagaAGATCGAGACCCGACGC chr11:119536681-Alternative-G;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative A tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct ACGAAGACGCTT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAacgaagacgcttAGATCGAGACCCGACGC chr11:119536681-Alternative-A;Patient-84 chr11:119536681-CT Inherited Patient-84 intronic NECTIN1 0.000828 4.95e-05 0.44 8.77 -5.86 NECTIN1 62753 Alternative A tgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttct AGACGTAGGATT CGACGCGGTCTCTCTCTtgcagggcacagggaaaacaggttcccaggcactggctcaggagatgcccAgtgagtgccaatcagctgccaaggtgccagaaactagggctgtggttctAGAGGGAGACGGACGTCTCAATAAagacgtaggattAGATCGAGACCCGACGC chr11:119536681-Alternative-A;Patient-84 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative T ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagc GGAGGACGTAGA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAggaggacgtagaAGATCGAGACCCGACGC chr11:120229774-Alternative-T;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Variant G ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagc CTGCATGCGGAA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAActgcatgcggaaAGATCGAGACCCGACGC chr11:120229774-Variant-G;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Variant G ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagc CTGTTCAACGAG CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAActgttcaacgagAGATCGAGACCCGACGC chr11:120229774-Variant-G;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Variant G ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagc CGTGATTACGAG CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAcgtgattacgagAGATCGAGACCCGACGC chr11:120229774-Variant-G;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Reference A ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagc AGGTGTTCCGAC CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAaggtgttccgacAGATCGAGACCCGACGC chr11:120229774-Reference-A;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Variant G ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagc GAGTTATCACCA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAgagttatcaccaAGATCGAGACCCGACGC chr11:120229774-Variant-G;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Reference A ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagc ACCATGCGTATT CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAaccatgcgtattAGATCGAGACCCGACGC chr11:120229774-Reference-A;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Reference A ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagc ATTGAGTCCACA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAattgagtccacaAGATCGAGACCCGACGC chr11:120229774-Reference-A;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative T ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagc CGCGTATTAACT CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAcgcgtattaactAGATCGAGACCCGACGC chr11:120229774-Alternative-T;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative T ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagc AATGGATCGTCA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAaatggatcgtcaAGATCGAGACCCGACGC chr11:120229774-Alternative-T;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative T ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagc AGTTCGCAACCG CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAagttcgcaaccgAGATCGAGACCCGACGC chr11:120229774-Alternative-T;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Variant G ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagc GGTATGGTAGCT CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgGgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAggtatggtagctAGATCGAGACCCGACGC chr11:120229774-Variant-G;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative C ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagc CTTGCGTAGTCG CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAActtgcgtagtcgAGATCGAGACCCGACGC chr11:120229774-Alternative-C;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative T ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagc ATAGGCGCTATA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgTgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAataggcgctataAGATCGAGACCCGACGC chr11:120229774-Alternative-T;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Reference A ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagc CGACGGTATGCT CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAcgacggtatgctAGATCGAGACCCGACGC chr11:120229774-Reference-A;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Reference A ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagc AGGACATGACGA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgAgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAaggacatgacgaAGATCGAGACCCGACGC chr11:120229774-Reference-A;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative C ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagc CGAACGCTAGTC CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAcgaacgctagtcAGATCGAGACCCGACGC chr11:120229774-Alternative-C;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative C ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagc CTCGGTTAGTGG CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAActcggttagtggAGATCGAGACCCGACGC chr11:120229774-Alternative-C;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative C ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagc CGGTGTAGCGAA CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAAcggtgtagcgaaAGATCGAGACCCGACGC chr11:120229774-Alternative-C;Patient-70 chr11:120229774-AG Inherited Patient-70 intronic ARHGEF12 NA 4.95e-05 0.14 4.88 1.23 ARHGEF12 22155 Alternative C ggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagc CTTGCCGCGAAT CGACGCGGTCTCTCTCTggtggacttctctgtggggatgtgtgaggcagctggctttgccctgagtgCgtgattttagccagagagggaggtagaagccattataacttttgtgagcAGAGGGAGACGGACGTCTCAATAActtgccgcgaatAGATCGAGACCCGACGC chr11:120229774-Alternative-C;Patient-70 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative A actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CGGCAGGATTGA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAcggcaggattgaAGATCGAGACCCGACGC chr11:120232507-Alternative-A;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative C actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CGCTAATGTTCA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAcgctaatgttcaAGATCGAGACCCGACGC chr11:120232507-Alternative-C;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative C actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg ATCGATCTAAGG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAatcgatctaaggAGATCGAGACCCGACGC chr11:120232507-Alternative-C;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative A actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GAGTTGCGGTCA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAgagttgcggtcaAGATCGAGACCCGACGC chr11:120232507-Alternative-A;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative C actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GTGCTACTACTT CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAgtgctactacttAGATCGAGACCCGACGC chr11:120232507-Alternative-C;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative C actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg ACACAGACTTGA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAacacagacttgaAGATCGAGACCCGACGC chr11:120232507-Alternative-C;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative C actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GACGACTATATC CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttCttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAgacgactatatcAGATCGAGACCCGACGC chr11:120232507-Alternative-C;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative A actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GATAGCCAATCG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAgatagccaatcgAGATCGAGACCCGACGC chr11:120232507-Alternative-A;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative A actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg ACGATCTTCAGA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAacgatcttcagaAGATCGAGACCCGACGC chr11:120232507-Alternative-A;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Alternative A actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GGACTCGGAATC CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttAttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAggactcggaatcAGATCGAGACCCGACGC chr11:120232507-Alternative-A;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Variant T actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CTGCGTACATCG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAActgcgtacatcgAGATCGAGACCCGACGC chr11:120232507-Variant-T;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Reference G actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg GACTGAAGGACG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAgactgaaggacgAGATCGAGACCCGACGC chr11:120232507-Reference-G;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Reference G actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg AGTGTAGGCGCT CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAagtgtaggcgctAGATCGAGACCCGACGC chr11:120232507-Reference-G;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Variant T actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg ATAGTGTGAAGG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAatagtgtgaaggAGATCGAGACCCGACGC chr11:120232507-Variant-T;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Variant T actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CTCAACACGACG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAActcaacacgacgAGATCGAGACCCGACGC chr11:120232507-Variant-T;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Reference G actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg AGAGTGTAGCGA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAagagtgtagcgaAGATCGAGACCCGACGC chr11:120232507-Reference-G;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Reference G actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CTTGGACGGTAA CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAActtggacggtaaAGATCGAGACCCGACGC chr11:120232507-Reference-G;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Variant T actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CTGTCGGTACAG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAActgtcggtacagAGATCGAGACCCGACGC chr11:120232507-Variant-T;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Variant T actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CGGTAGCCTTCT CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttTttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAcggtagccttctAGATCGAGACCCGACGC chr11:120232507-Variant-T;Patient-108 chr11:120232507-GT DeNovo Patient-108 intronic ARHGEF12 NA 3.84e-05 1.34 15.1 1.47 ARHGEF12 24888 Reference G actttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctg CAAGTCTCTGAG CGACGCGGTCTCTCTCTactttgttttgtacgtggaatacgtaaacttgtcaggataaatttaggttGttcacataagtagatatatttgtcaagatatgcttatttgcagagcctgAGAGGGAGACGGACGTCTCAATAAcaagtctctgagAGATCGAGACCCGACGC chr11:120232507-Reference-G;Patient-108 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Variant T attccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtg GCCGTAGTCAAG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAgccgtagtcaagAGATCGAGACCCGACGC chr11:120241574-Variant-T;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Variant T attccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtg GAGATCTCAACT CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAgagatctcaactAGATCGAGACCCGACGC chr11:120241574-Variant-T;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative G attccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CTTACCACAGCG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAActtaccacagcgAGATCGAGACCCGACGC chr11:120241574-Alternative-G;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative G attccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtg AATGTCGTGCTA CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAaatgtcgtgctaAGATCGAGACCCGACGC chr11:120241574-Alternative-G;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative G attccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CGCGGTATAACT CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcgcggtataactAGATCGAGACCCGACGC chr11:120241574-Alternative-G;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative A attccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtg CAACGAACCTTC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcaacgaaccttcAGATCGAGACCCGACGC chr11:120241574-Alternative-A;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative A attccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtg CATTAATACCGG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcattaataccggAGATCGAGACCCGACGC chr11:120241574-Alternative-A;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative G attccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtg AGCACCACTGAG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAagcaccactgagAGATCGAGACCCGACGC chr11:120241574-Alternative-G;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Variant T attccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CAACGACCAACC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcaacgaccaaccAGATCGAGACCCGACGC chr11:120241574-Variant-T;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative G attccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CTTAGGAGATGA CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaGcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAActtaggagatgaAGATCGAGACCCGACGC chr11:120241574-Alternative-G;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Reference C attccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CGCTCATGTCAC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcgctcatgtcacAGATCGAGACCCGACGC chr11:120241574-Reference-C;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Reference C attccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CTCTGGTATAAC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAActctggtataacAGATCGAGACCCGACGC chr11:120241574-Reference-C;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Variant T attccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtg ATCCGGATAGAA CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAatccggatagaaAGATCGAGACCCGACGC chr11:120241574-Variant-T;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative A attccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtg ACCTCGGACAAG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAacctcggacaagAGATCGAGACCCGACGC chr11:120241574-Alternative-A;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Reference C attccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CTAAGCGTGTCG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAActaagcgtgtcgAGATCGAGACCCGACGC chr11:120241574-Reference-C;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Variant T attccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtg GACGATTAACCG CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaTcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAgacgattaaccgAGATCGAGACCCGACGC chr11:120241574-Variant-T;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative A attccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtg GCAGTCGTAGTC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAgcagtcgtagtcAGATCGAGACCCGACGC chr11:120241574-Alternative-A;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Alternative A attccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtg CGCAACGCAAGA CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaActtttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcgcaacgcaagaAGATCGAGACCCGACGC chr11:120241574-Alternative-A;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Reference C attccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtg AAGTGAACCGAC CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAaagtgaaccgacAGATCGAGACCCGACGC chr11:120241574-Reference-C;Patient-78 chr11:120241574-CT DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.07 1.68 0.35 ARHGEF12 33955 Reference C attccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtg CGCAGTACGTGA CGACGCGGTCTCTCTCTattccaacctcctttcattttttttttctctctccttccctcccttatcaCcttttaattttatattgttttggctgacagttctatttaaggtagtgtgAGAGGGAGACGGACGTCTCAATAAcgcagtacgtgaAGATCGAGACCCGACGC chr11:120241574-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Reference C agataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GATAGTACCGAC CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgatagtaccgacAGATCGAGACCCGACGC chr11:120243470-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Reference C agataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CTATCCTTGGCA CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAActatccttggcaAGATCGAGACCCGACGC chr11:120243470-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative A agataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatccc ACAACTATCGAG CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAacaactatcgagAGATCGAGACCCGACGC chr11:120243470-Alternative-A;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Reference C agataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GCCACGAATGGT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgccacgaatggtAGATCGAGACCCGACGC chr11:120243470-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative A agataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatccc ACAAGACGACAT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAacaagacgacatAGATCGAGACCCGACGC chr11:120243470-Alternative-A;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative T agataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatccc AACGTGTCGCGA CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAaacgtgtcgcgaAGATCGAGACCCGACGC chr11:120243470-Alternative-T;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Reference C agataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatccc ACCGTATTCGTT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAaccgtattcgttAGATCGAGACCCGACGC chr11:120243470-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative T agataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GACTACCAGATT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgactaccagattAGATCGAGACCCGACGC chr11:120243470-Alternative-T;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Reference C agataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatccc AGATGGAGCAGT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacCttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAagatggagcagtAGATCGAGACCCGACGC chr11:120243470-Reference-C;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Variant G agataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GAGTGTAGCGCT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgagtgtagcgctAGATCGAGACCCGACGC chr11:120243470-Variant-G;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative A agataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatccc ACGAACATGCGC CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAacgaacatgcgcAGATCGAGACCCGACGC chr11:120243470-Alternative-A;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative A agataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CGCTTACGACAC CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAcgcttacgacacAGATCGAGACCCGACGC chr11:120243470-Alternative-A;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative T agataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CAACTAGCGCAA CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAcaactagcgcaaAGATCGAGACCCGACGC chr11:120243470-Alternative-T;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative A agataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CTACGGCATACG CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacAttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAActacggcatacgAGATCGAGACCCGACGC chr11:120243470-Alternative-A;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative T agataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatccc AATCTCTCAACC CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAaatctctcaaccAGATCGAGACCCGACGC chr11:120243470-Alternative-T;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Alternative T agataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GACCGCAAGCTA CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacTttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgaccgcaagctaAGATCGAGACCCGACGC chr11:120243470-Alternative-T;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Variant G agataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CTTACACTTACG CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAActtacacttacgAGATCGAGACCCGACGC chr11:120243470-Variant-G;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Variant G agataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatccc ACAATGAAGTCG CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAacaatgaagtcgAGATCGAGACCCGACGC chr11:120243470-Variant-G;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Variant G agataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatccc GACGTTGGACCT CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAAgacgttggacctAGATCGAGACCCGACGC chr11:120243470-Variant-G;Patient-78 chr11:120243470-CG DeNovo Patient-78 intronic ARHGEF12 NA 4.95e-05 -0.3 0.37 -1.19 ARHGEF12 35851 Variant G agataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatccc CTCGTATTCAAG CGACGCGGTCTCTCTCTagataggcctgagttcagatccaggctctaccatttgttagctgaacaacGttggaaaagttatatagcttctctaccttagcttttgtctctttatcccAGAGGGAGACGGACGTCTCAATAActcgtattcaagAGATCGAGACCCGACGC chr11:120243470-Variant-G;Patient-78 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative C caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CAAGCTAGCTAT CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAcaagctagctatAGATCGAGACCCGACGC chr11:122878586-Alternative-C;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative C caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CTGCGAAGACCA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAActgcgaagaccaAGATCGAGACCCGACGC chr11:122878586-Alternative-C;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative C caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctg GTTCGTCGGCTA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAgttcgtcggctaAGATCGAGACCCGACGC chr11:122878586-Alternative-C;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative C caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CGCGTCGTATGA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAcgcgtcgtatgaAGATCGAGACCCGACGC chr11:122878586-Alternative-C;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative C caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CAAGCAGCTATT CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacCatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAcaagcagctattAGATCGAGACCCGACGC chr11:122878586-Alternative-C;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Variant A caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctg ACACGGACGAAC CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAacacggacgaacAGATCGAGACCCGACGC chr11:122878586-Variant-A;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Variant A caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctg ACTAGACGGCAG CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAactagacggcagAGATCGAGACCCGACGC chr11:122878586-Variant-A;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative T caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctg ATCGGTGTTCTA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAatcggtgttctaAGATCGAGACCCGACGC chr11:122878586-Alternative-T;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Variant A caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CTATTGCACCAT CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAActattgcaccatAGATCGAGACCCGACGC chr11:122878586-Variant-A;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative T caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctg ATTCGCTGGTAA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAattcgctggtaaAGATCGAGACCCGACGC chr11:122878586-Alternative-T;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Reference G caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctg ATTGTGCTTGCT CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAattgtgcttgctAGATCGAGACCCGACGC chr11:122878586-Reference-G;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative T caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CAGATCATTGAG CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAcagatcattgagAGATCGAGACCCGACGC chr11:122878586-Alternative-T;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Reference G caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctg GTAGCTAATAGG CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAgtagctaataggAGATCGAGACCCGACGC chr11:122878586-Reference-G;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative T caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctg GGTGTAGCAACG CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAggtgtagcaacgAGATCGAGACCCGACGC chr11:122878586-Alternative-T;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Variant A caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctg GATCGAGGACGT CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAgatcgaggacgtAGATCGAGACCCGACGC chr11:122878586-Variant-A;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Alternative T caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CTCAACCGACGA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacTatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAActcaaccgacgaAGATCGAGACCCGACGC chr11:122878586-Alternative-T;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Reference G caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctg GCATGCGCAACA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAgcatgcgcaacaAGATCGAGACCCGACGC chr11:122878586-Reference-G;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Variant A caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctg AGGTGCGTCCTA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacAatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAaggtgcgtcctaAGATCGAGACCCGACGC chr11:122878586-Variant-A;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Reference G caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CATCATTGAACC CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAAcatcattgaaccAGATCGAGACCCGACGC chr11:122878586-Reference-G;Patient-44 chr11:122878586-GA Inherited Patient-44 intergenic 0.000259 0.00154 -0.7 0.02 -0.59 HSPA8 54456 Reference G caaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctg CTAATGCGCGCA CGACGCGGTCTCTCTCTcaaaaaggatctggagcaacaagaaagcagtgtaatacaatattaaatacGatccaatttttttttttttgagacagagtctcactctgtcgccaggctgAGAGGGAGACGGACGTCTCAATAActaatgcgcgcaAGATCGAGACCCGACGC chr11:122878586-Reference-G;Patient-44 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Variant T taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CTTACCACATGA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAActtaccacatgaAGATCGAGACCCGACGC chr11:122895174-Variant-T;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Variant T taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GGAACTCTAAGT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAggaactctaagtAGATCGAGACCCGACGC chr11:122895174-Variant-T;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Variant T taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GATCCGACATCG CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgatccgacatcgAGATCGAGACCCGACGC chr11:122895174-Variant-T;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Reference G taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GTCGAATTATGC CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgtcgaattatgcAGATCGAGACCCGACGC chr11:122895174-Reference-G;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Reference G taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GGTCTTCGACGA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAggtcttcgacgaAGATCGAGACCCGACGC chr11:122895174-Reference-G;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Reference G taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GTCGGATGCATC CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgtcggatgcatcAGATCGAGACCCGACGC chr11:122895174-Reference-G;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative A taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CGTCCTACACGT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAcgtcctacacgtAGATCGAGACCCGACGC chr11:122895174-Alternative-A;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Reference G taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac AGGTACTACGCG CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAaggtactacgcgAGATCGAGACCCGACGC chr11:122895174-Reference-G;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Reference G taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac ACGGTAACAAGG CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattGtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAacggtaacaaggAGATCGAGACCCGACGC chr11:122895174-Reference-G;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative A taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GTGTTCGTACTT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgtgttcgtacttAGATCGAGACCCGACGC chr11:122895174-Alternative-A;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative C taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GCGCCGGTTAAT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgcgccggttaatAGATCGAGACCCGACGC chr11:122895174-Alternative-C;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative C taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac AATGCGCTGTGC CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAaatgcgctgtgcAGATCGAGACCCGACGC chr11:122895174-Alternative-C;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative A taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac GAGTGTTATGGT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAgagtgttatggtAGATCGAGACCCGACGC chr11:122895174-Alternative-A;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative C taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac ACCTTAGACATC CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAaccttagacatcAGATCGAGACCCGACGC chr11:122895174-Alternative-C;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Variant T taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac AGTTCCGATCAT CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAagttccgatcatAGATCGAGACCCGACGC chr11:122895174-Variant-T;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative C taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CTTACGATGACA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAActtacgatgacaAGATCGAGACCCGACGC chr11:122895174-Alternative-C;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Variant T taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CAACATAGCGAA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattTtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAcaacatagcgaaAGATCGAGACCCGACGC chr11:122895174-Variant-T;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative A taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CGTAGTGGAATA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAcgtagtggaataAGATCGAGACCCGACGC chr11:122895174-Alternative-A;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative C taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CAACCTTGGTAA CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattCtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAAcaaccttggtaaAGATCGAGACCCGACGC chr11:122895174-Alternative-C;Patient-89 chr11:122895174-GT Inherited Patient-89 intergenic 0.000414 0.000513 -0.13 1.15 -0.44 HSPA8 37868 Alternative A taaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaac CTACGGTACACG CGACGCGGTCTCTCTCTtaaaactgttttatgtgtaatctagtgttgaacaaataagtaaatacattAtgaataataaccaccgaattttttactgtcagagaaaggaattaaaaacAGAGGGAGACGGACGTCTCAATAActacggtacacgAGATCGAGACCCGACGC chr11:122895174-Alternative-A;Patient-89 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative A gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CAGTCTTGTACT CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAcagtcttgtactAGATCGAGACCCGACGC chr11:122933700-Alternative-A;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Variant T gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac AAGATTCTCCGA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAaagattctccgaAGATCGAGACCCGACGC chr11:122933700-Variant-T;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative G gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CACGGTTAACAC CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAcacggttaacacAGATCGAGACCCGACGC chr11:122933700-Alternative-G;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative A gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CTCATGTTCGGC CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAActcatgttcggcAGATCGAGACCCGACGC chr11:122933700-Alternative-A;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative A gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac GTAATTAAGGCG CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAgtaattaaggcgAGATCGAGACCCGACGC chr11:122933700-Alternative-A;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative G gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac GGACCGTCTTGA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAggaccgtcttgaAGATCGAGACCCGACGC chr11:122933700-Alternative-G;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative G gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CTTACGGTCCTA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAActtacggtcctaAGATCGAGACCCGACGC chr11:122933700-Alternative-G;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Variant T gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac GGTCAACACCAC CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAggtcaacaccacAGATCGAGACCCGACGC chr11:122933700-Variant-T;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Variant T gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CACAGCGCGATA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAcacagcgcgataAGATCGAGACCCGACGC chr11:122933700-Variant-T;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Variant T gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac ACGACGTCTACG CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAacgacgtctacgAGATCGAGACCCGACGC chr11:122933700-Variant-T;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative A gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CACGTGTGTCTT CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAcacgtgtgtcttAGATCGAGACCCGACGC chr11:122933700-Alternative-A;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Reference C gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac AGCTTCGGTAAG CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAagcttcggtaagAGATCGAGACCCGACGC chr11:122933700-Reference-C;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative A gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac AGTAACGCAACA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtAgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAagtaacgcaacaAGATCGAGACCCGACGC chr11:122933700-Alternative-A;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Reference C gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac ATAATGGCACGA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAataatggcacgaAGATCGAGACCCGACGC chr11:122933700-Reference-C;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Reference C gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CAACATATGCGT CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAcaacatatgcgtAGATCGAGACCCGACGC chr11:122933700-Reference-C;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Reference C gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac CTAAGATCCAAC CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAActaagatccaacAGATCGAGACCCGACGC chr11:122933700-Reference-C;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative G gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac ACGCGAGTACAC CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAacgcgagtacacAGATCGAGACCCGACGC chr11:122933700-Alternative-G;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Variant T gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac GAATGTACGACT CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtTgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAgaatgtacgactAGATCGAGACCCGACGC chr11:122933700-Variant-T;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Alternative G gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac AACAGCGTTCAA CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtGgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAaacagcgttcaaAGATCGAGACCCGACGC chr11:122933700-Alternative-G;Patient-16 chr11:122933700-CT DeNovo Patient-16 intergenic 0.000319 0.000513 0.18 5.54 -1.91 HSPA8 656 Reference C gggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaac GTAAGTTACAGG CGACGCGGTCTCTCTCTgggttagctcggcaggcctcccagcacctgcatttccctacggcaactgtCgggaggcagcccccgacgcagaggtttaaggggcccggcttttcagaacAGAGGGAGACGGACGTCTCAATAAgtaagttacaggAGATCGAGACCCGACGC chr11:122933700-Reference-C;Patient-16 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative C cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg AATGAGTTCACG CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAaatgagttcacgAGATCGAGACCCGACGC chr11:12300189-Alternative-C;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative C cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CGTAGCTCGAGT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAcgtagctcgagtAGATCGAGACCCGACGC chr11:12300189-Alternative-C;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative C cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CAGTCGACGGTT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAcagtcgacggttAGATCGAGACCCGACGC chr11:12300189-Alternative-C;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative C cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CGTTCCACGATT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAcgttccacgattAGATCGAGACCCGACGC chr11:12300189-Alternative-C;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative C cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CTACGGTTGTGG CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcCtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAActacggttgtggAGATCGAGACCCGACGC chr11:12300189-Alternative-C;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Variant A cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GGCGACAGTTCT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAggcgacagttctAGATCGAGACCCGACGC chr11:12300189-Variant-A;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Variant A cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg AGGTATCCGAAT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAaggtatccgaatAGATCGAGACCCGACGC chr11:12300189-Variant-A;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Variant A cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GTTCCACGCGAT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAgttccacgcgatAGATCGAGACCCGACGC chr11:12300189-Variant-A;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Variant A cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GGTCACGGACAT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAggtcacggacatAGATCGAGACCCGACGC chr11:12300189-Variant-A;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Variant A cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CGTAACCACGAG CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcAtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAcgtaaccacgagAGATCGAGACCCGACGC chr11:12300189-Variant-A;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative T cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GGCTACACAACT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAggctacacaactAGATCGAGACCCGACGC chr11:12300189-Alternative-T;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative T cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg ACGTTACTGACT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAacgttactgactAGATCGAGACCCGACGC chr11:12300189-Alternative-T;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative T cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg ATTATTCGCCAC CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAattattcgccacAGATCGAGACCCGACGC chr11:12300189-Alternative-T;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative T cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CTCGGTACTGCT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAActcggtactgctAGATCGAGACCCGACGC chr11:12300189-Alternative-T;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Alternative T cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg CATCTGCCAATT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcTtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAcatctgccaattAGATCGAGACCCGACGC chr11:12300189-Alternative-T;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Reference G cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GTTAGCGACGTC CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAgttagcgacgtcAGATCGAGACCCGACGC chr11:12300189-Reference-G;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Reference G cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GATGACACGACT CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAgatgacacgactAGATCGAGACCCGACGC chr11:12300189-Reference-G;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Reference G cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GTTAATATCGGC CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAgttaatatcggcAGATCGAGACCCGACGC chr11:12300189-Reference-G;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Reference G cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg ACGCAGATCGAA CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAacgcagatcgaaAGATCGAGACCCGACGC chr11:12300189-Reference-G;Patient-30 chr11:12300189-GA Inherited Patient-30 intergenic 0.000318 0.00103 NA NA NA PARVA 98836 Reference G cagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcgggg GGAATGCGAATA CGACGCGGTCTCTCTCTcagttttcacagatcagcaggcctcgctttggggaatggatgaagcaggcGtgtgtgaggataaaggcaggaagagcaggtggaagcctgcagctcggggAGAGGGAGACGGACGTCTCAATAAggaatgcgaataAGATCGAGACCCGACGC chr11:12300189-Reference-G;Patient-30 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative G ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CAAGACAAGCGG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcaagacaagcggAGATCGAGACCCGACGC chr11:123117641-Alternative-G;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Reference C ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg AATGACCGTGCG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAaatgaccgtgcgAGATCGAGACCCGACGC chr11:123117641-Reference-C;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Reference C ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CGTAGTCGAGCT CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcgtagtcgagctAGATCGAGACCCGACGC chr11:123117641-Reference-C;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative G ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg AGAAGTGCGGAC CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAagaagtgcggacAGATCGAGACCCGACGC chr11:123117641-Alternative-G;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Reference C ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CAGTATCGCACG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcagtatcgcacgAGATCGAGACCCGACGC chr11:123117641-Reference-C;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative G ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg ACTAGTCGTCGG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAactagtcgtcggAGATCGAGACCCGACGC chr11:123117641-Alternative-G;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative G ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CAAGTTGTGACT CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcaagttgtgactAGATCGAGACCCGACGC chr11:123117641-Alternative-G;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Reference C ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg ACTAGCTTGTTC CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAactagcttgttcAGATCGAGACCCGACGC chr11:123117641-Reference-C;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative G ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg GGCTGTACGAGA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgGtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAggctgtacgagaAGATCGAGACCCGACGC chr11:123117641-Alternative-G;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Reference C ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg ACCTATGATCGA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgCtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAacctatgatcgaAGATCGAGACCCGACGC chr11:123117641-Reference-C;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative T ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CGATTACGTAGT CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcgattacgtagtAGATCGAGACCCGACGC chr11:123117641-Alternative-T;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Variant A ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CACATAACGGAC CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcacataacggacAGATCGAGACCCGACGC chr11:123117641-Variant-A;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative T ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg GACATAGTTCCA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAgacatagttccaAGATCGAGACCCGACGC chr11:123117641-Alternative-T;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative T ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg ACGCGTGCTCTA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAacgcgtgctctaAGATCGAGACCCGACGC chr11:123117641-Alternative-T;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative T ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CTTAGAGTATCG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAActtagagtatcgAGATCGAGACCCGACGC chr11:123117641-Alternative-T;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Alternative T ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg AACCGGTCATTA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgTtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAaaccggtcattaAGATCGAGACCCGACGC chr11:123117641-Alternative-T;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Variant A ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CTGTCTATACCA CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAActgtctataccaAGATCGAGACCCGACGC chr11:123117641-Variant-A;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Variant A ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg CAGAGATGTAAC CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAcagagatgtaacAGATCGAGACCCGACGC chr11:123117641-Variant-A;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Variant A ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg ATTGAATGGCCG CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAattgaatggccgAGATCGAGACCCGACGC chr11:123117641-Variant-A;Patient-55 chr11:123117641-CA DeNovo Patient-55 intergenic NA 0.000513 -0.23 0.57 -0.57 CLMP 51633 Variant A ccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttgg GCCAGGCATGTT CGACGCGGTCTCTCTCTccatgcccagctactttctgtattttttgtagagactgggtcttgctatgAtgcccaggctggtcttgaactcctgcctgaagtgatctgcctgccttggAGAGGGAGACGGACGTCTCAATAAgccaggcatgttAGATCGAGACCCGACGC chr11:123117641-Variant-A;Patient-55 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Reference G acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GGTAGGACGATA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAggtaggacgataAGATCGAGACCCGACGC chr11:125313994-Reference-G;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative T acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct AGGACTTCCTAT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAaggacttcctatAGATCGAGACCCGACGC chr11:125313994-Alternative-T;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative T acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GCGGATATCAAT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAgcggatatcaatAGATCGAGACCCGACGC chr11:125313994-Alternative-T;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative T acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CACACGTTGACG CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAcacacgttgacgAGATCGAGACCCGACGC chr11:125313994-Alternative-T;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Reference G acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct AGTGTAGTGGAT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAagtgtagtggatAGATCGAGACCCGACGC chr11:125313994-Reference-G;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Reference G acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct AGCAGCAACACG CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAagcagcaacacgAGATCGAGACCCGACGC chr11:125313994-Reference-G;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Reference G acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GGCTAATTCCTA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAggctaattcctaAGATCGAGACCCGACGC chr11:125313994-Reference-G;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative T acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct ATTGCTGCAAGA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAattgctgcaagaAGATCGAGACCCGACGC chr11:125313994-Alternative-T;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Variant A acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct ATAGGCCGTAGG CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAataggccgtaggAGATCGAGACCCGACGC chr11:125313994-Variant-A;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Variant A acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GCACGAGAGCAA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAgcacgagagcaaAGATCGAGACCCGACGC chr11:125313994-Variant-A;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Reference G acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CGTTACGGTGGT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccGaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAcgttacggtggtAGATCGAGACCCGACGC chr11:125313994-Reference-G;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Variant A acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CGGCGACTACTA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAcggcgactactaAGATCGAGACCCGACGC chr11:125313994-Variant-A;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative T acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CTCTAGTGGCGT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccTaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAActctagtggcgtAGATCGAGACCCGACGC chr11:125313994-Alternative-T;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Variant A acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CTGAGGCTAATA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAActgaggctaataAGATCGAGACCCGACGC chr11:125313994-Variant-A;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative C acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct ACCTTGGAACTA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAaccttggaactaAGATCGAGACCCGACGC chr11:125313994-Alternative-C;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Variant A acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GCAGCGTAGAGT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccAaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAgcagcgtagagtAGATCGAGACCCGACGC chr11:125313994-Variant-A;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative C acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CATAGCGCTAAT CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAcatagcgctaatAGATCGAGACCCGACGC chr11:125313994-Alternative-C;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative C acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct CGAACGTTGTTA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAcgaacgttgttaAGATCGAGACCCGACGC chr11:125313994-Alternative-C;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative C acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GTGAGACTGCCA CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAgtgagactgccaAGATCGAGACCCGACGC chr11:125313994-Alternative-C;Patient-87 chr11:125313994-GA Inherited Patient-87 intergenic 3.7e-05 0.00103 0.15 5.15 1.66 FEZ1 52211 Alternative C acaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgct GACTATCCGTGC CGACGCGGTCTCTCTCTacaccactaatgaccctgggcatgttcagccttagcaccagtgaactgccCaactgaatccatgcccttttatcacaggacgagttgtcacttccatgctAGAGGGAGACGGACGTCTCAATAAgactatccgtgcAGATCGAGACCCGACGC chr11:125313994-Alternative-C;Patient-87 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative A aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca AACGTGCTCTAA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAaacgtgctctaaAGATCGAGACCCGACGC chr11:125736514-Alternative-A;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative C aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca AGGCGTACCTGA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAaggcgtacctgaAGATCGAGACCCGACGC chr11:125736514-Alternative-C;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative C aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GTAGCGCGTAAG CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAgtagcgcgtaagAGATCGAGACCCGACGC chr11:125736514-Alternative-C;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative C aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca CGAACGTAAGCG CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAcgaacgtaagcgAGATCGAGACCCGACGC chr11:125736514-Alternative-C;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative A aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GGTTACGCTGCA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAggttacgctgcaAGATCGAGACCCGACGC chr11:125736514-Alternative-A;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative C aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GTACGAGTTCAC CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAgtacgagttcacAGATCGAGACCCGACGC chr11:125736514-Alternative-C;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative C aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca CGCTTAACGTGG CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttCtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAcgcttaacgtggAGATCGAGACCCGACGC chr11:125736514-Alternative-C;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Variant G aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GATGCGCTACCT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAgatgcgctacctAGATCGAGACCCGACGC chr11:125736514-Variant-G;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Variant G aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca AGTGCTTAGTGT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAagtgcttagtgtAGATCGAGACCCGACGC chr11:125736514-Variant-G;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Variant G aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GTTAGGTGATGA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAgttaggtgatgaAGATCGAGACCCGACGC chr11:125736514-Variant-G;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Variant G aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GCGATAGGTACT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAgcgataggtactAGATCGAGACCCGACGC chr11:125736514-Variant-G;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Variant G aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca CGCTAGCCACTT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttGtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAcgctagccacttAGATCGAGACCCGACGC chr11:125736514-Variant-G;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Reference T aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GGCAATTGGCGA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAggcaattggcgaAGATCGAGACCCGACGC chr11:125736514-Reference-T;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Reference T aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca ACGATTAGTAGG CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAacgattagtaggAGATCGAGACCCGACGC chr11:125736514-Reference-T;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Reference T aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca CATGACGAACGC CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAcatgacgaacgcAGATCGAGACCCGACGC chr11:125736514-Reference-T;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Reference T aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca GGTATTGAGGCG CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAggtattgaggcgAGATCGAGACCCGACGC chr11:125736514-Reference-T;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Reference T aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca ACTCGCGGACTT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttTtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAactcgcggacttAGATCGAGACCCGACGC chr11:125736514-Reference-T;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative A aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca ACTGAAGACGGT CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAactgaagacggtAGATCGAGACCCGACGC chr11:125736514-Alternative-A;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative A aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca CAGTATCGAACC CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAcagtatcgaaccAGATCGAGACCCGACGC chr11:125736514-Alternative-A;Patient-59 chr11:125736514-TG Inherited Patient-59 intergenic 3.9e-05 0.00205 0.08 4 0 HYLS1 16994 Alternative A aaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgca AGGACCTCTTAA CGACGCGGTCTCTCTCTaaatagcaacaaaaaaattaaatatgtaggtgtaagttttttttttttttAtttttttttttaagacggagtctcgctctgtcgcccaggctggagtgcaAGAGGGAGACGGACGTCTCAATAAaggacctcttaaAGATCGAGACCCGACGC chr11:125736514-Alternative-A;Patient-59 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Reference T gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ATAAGCGGACAT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAataagcggacatAGATCGAGACCCGACGC chr11:125823747-Reference-T;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative A gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ACGTCAATCACG CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAacgtcaatcacgAGATCGAGACCCGACGC chr11:125823747-Alternative-A;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative G gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg CGCGATAACGAT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAcgcgataacgatAGATCGAGACCCGACGC chr11:125823747-Alternative-G;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative A gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg AACCGTCCGCTT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAaaccgtccgcttAGATCGAGACCCGACGC chr11:125823747-Alternative-A;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Reference T gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg AATGCCGGAGCA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAaatgccggagcaAGATCGAGACCCGACGC chr11:125823747-Reference-T;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Reference T gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ACTCGCTACGTC CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAactcgctacgtcAGATCGAGACCCGACGC chr11:125823747-Reference-T;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative A gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg GCATTGTCGTCG CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAgcattgtcgtcgAGATCGAGACCCGACGC chr11:125823747-Alternative-A;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative G gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg AGGCGCAATTAT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAaggcgcaattatAGATCGAGACCCGACGC chr11:125823747-Alternative-G;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative A gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg GCATGATCAGCT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAgcatgatcagctAGATCGAGACCCGACGC chr11:125823747-Alternative-A;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Reference T gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg GGAGGTTATAGT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAggaggttatagtAGATCGAGACCCGACGC chr11:125823747-Reference-T;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Variant C gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg CTAACTACACAC CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAActaactacacacAGATCGAGACCCGACGC chr11:125823747-Variant-C;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative G gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg GGCGCTGACTTA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAggcgctgacttaAGATCGAGACCCGACGC chr11:125823747-Alternative-G;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative A gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ACGAGTGTCTTA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaAgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAacgagtgtcttaAGATCGAGACCCGACGC chr11:125823747-Alternative-A;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Reference T gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg CGCGAGATTATC CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaTgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAcgcgagattatcAGATCGAGACCCGACGC chr11:125823747-Reference-T;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Variant C gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ATTCATCGGCTA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAattcatcggctaAGATCGAGACCCGACGC chr11:125823747-Variant-C;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Variant C gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ATCTGCGAACCG CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAatctgcgaaccgAGATCGAGACCCGACGC chr11:125823747-Variant-C;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative G gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg CAGTTACAGGAT CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAcagttacaggatAGATCGAGACCCGACGC chr11:125823747-Alternative-G;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Alternative G gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg ACAATTGCACCA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaGgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAacaattgcaccaAGATCGAGACCCGACGC chr11:125823747-Alternative-G;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Variant C gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg GGCGAGATAAGG CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAggcgagataaggAGATCGAGACCCGACGC chr11:125823747-Variant-C;Patient-21 chr11:125823747-TC Inherited Patient-21 intergenic 0.000446 0.000149 0.1 4.19 -0.06 DDX25 49485 Variant C gcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcagg CGATGGACCTTA CGACGCGGTCTCTCTCTgcttgagcttccttgggcataggcaggactcaagagatagatgggcaacaCgcgcgtgaatctgctgcactcacggcaaacagaacgccatgcaggcaggAGAGGGAGACGGACGTCTCAATAAcgatggaccttaAGATCGAGACCCGACGC chr11:125823747-Variant-C;Patient-21 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative G agaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CTAGCTCTGTGC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAActagctctgtgcAGATCGAGACCCGACGC chr11:12597174-Alternative-G;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative G agaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac ACTTGATGCTTC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAacttgatgcttcAGATCGAGACCCGACGC chr11:12597174-Alternative-G;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative G agaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GATTCTGACGGC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgattctgacggcAGATCGAGACCCGACGC chr11:12597174-Alternative-G;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative G agaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CAAGAGGTGTCG CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcaagaggtgtcgAGATCGAGACCCGACGC chr11:12597174-Alternative-G;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Reference T agaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GGCACGTTCTTC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAggcacgttcttcAGATCGAGACCCGACGC chr11:12597174-Reference-T;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Reference T agaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GGCTCTGTTCAC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAggctctgttcacAGATCGAGACCCGACGC chr11:12597174-Reference-T;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Reference T agaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GACAAGACAACG CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgacaagacaacgAGATCGAGACCCGACGC chr11:12597174-Reference-T;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Reference T agaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GGTGTTAGCGCT CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAggtgttagcgctAGATCGAGACCCGACGC chr11:12597174-Reference-T;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative G agaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GGTCTTGATAAC CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgGtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAggtcttgataacAGATCGAGACCCGACGC chr11:12597174-Alternative-G;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative A agaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac ACGAATCAGGCA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAacgaatcaggcaAGATCGAGACCCGACGC chr11:12597174-Alternative-A;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative A agaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CAACGTGCGTCT CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcaacgtgcgtctAGATCGAGACCCGACGC chr11:12597174-Alternative-A;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Reference T agaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CGTTGCGTTATA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgTtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcgttgcgttataAGATCGAGACCCGACGC chr11:12597174-Reference-T;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Variant C agaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CGTTGTGTTCTA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcgttgtgttctaAGATCGAGACCCGACGC chr11:12597174-Variant-C;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Variant C agaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GCGTTGATTAGT CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgcgttgattagtAGATCGAGACCCGACGC chr11:12597174-Variant-C;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative A agaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CTCATGTGGACA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAActcatgtggacaAGATCGAGACCCGACGC chr11:12597174-Alternative-A;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative A agaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CGAGAAGATAGA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcgagaagatagaAGATCGAGACCCGACGC chr11:12597174-Alternative-A;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Variant C agaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GATTCGGAACGG CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgattcggaacggAGATCGAGACCCGACGC chr11:12597174-Variant-C;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Alternative A agaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GCAACGCTCAGT CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgAtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgcaacgctcagtAGATCGAGACCCGACGC chr11:12597174-Alternative-A;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Variant C agaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac CGAAGGAAGACG CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAcgaaggaagacgAGATCGAGACCCGACGC chr11:12597174-Variant-C;Patient-37 chr11:12597174-TC DeNovo Patient-37 intergenic 0.000446 0.00256 0.03 3.06 0.83 TEAD1 98794 Variant C agaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataac GCGCACACCTAA CGACGCGGTCTCTCTCTagaaagcacactagaaataataactacacaggtaaatatacaagacattgCtatataaatgcctacgaaggtccctgattctttaaactaaagcaataacAGAGGGAGACGGACGTCTCAATAAgcgcacacctaaAGATCGAGACCCGACGC chr11:12597174-Variant-C;Patient-37 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Reference A aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc GCGGACTACGAT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAgcggactacgatAGATCGAGACCCGACGC chr11:126171270-Reference-A;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Reference A aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc GACAAGTCCGGT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAgacaagtccggtAGATCGAGACCCGACGC chr11:126171270-Reference-A;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Reference A aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc AGCTAGATCGAA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAagctagatcgaaAGATCGAGACCCGACGC chr11:126171270-Reference-A;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Variant C aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc CACTAGGCGCAA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAcactaggcgcaaAGATCGAGACCCGACGC chr11:126171270-Variant-C;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Variant C aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ATCGCGAACGCT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAatcgcgaacgctAGATCGAGACCCGACGC chr11:126171270-Variant-C;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Variant C aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc AGGCGATCACCA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAaggcgatcaccaAGATCGAGACCCGACGC chr11:126171270-Variant-C;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative G aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ACCGCTCCAATC CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAaccgctccaatcAGATCGAGACCCGACGC chr11:126171270-Alternative-G;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative G aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc AGTCAATGGTTC CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAagtcaatggttcAGATCGAGACCCGACGC chr11:126171270-Alternative-G;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative G aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc CACGCAACAAGT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAcacgcaacaagtAGATCGAGACCCGACGC chr11:126171270-Alternative-G;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative G aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ACCTCATGCGCA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAacctcatgcgcaAGATCGAGACCCGACGC chr11:126171270-Alternative-G;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Variant C aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ATAACGCGGTAT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAataacgcggtatAGATCGAGACCCGACGC chr11:126171270-Variant-C;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative G aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc GATCAGTGCATT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccGgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAgatcagtgcattAGATCGAGACCCGACGC chr11:126171270-Alternative-G;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Variant C aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc GCGATAGGTAGA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccCgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAgcgataggtagaAGATCGAGACCCGACGC chr11:126171270-Variant-C;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative T aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc AACAACCTATCG CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAaacaacctatcgAGATCGAGACCCGACGC chr11:126171270-Alternative-T;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative T aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ATAGTAGCGCGC CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAatagtagcgcgcAGATCGAGACCCGACGC chr11:126171270-Alternative-T;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative T aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc GGCTATCAACTA CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAggctatcaactaAGATCGAGACCCGACGC chr11:126171270-Alternative-T;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative T aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc ACGCAATCTGCG CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAacgcaatctgcgAGATCGAGACCCGACGC chr11:126171270-Alternative-T;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Reference A aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc CGGTGGAATACG CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAcggtggaatacgAGATCGAGACCCGACGC chr11:126171270-Reference-A;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Reference A aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc CACAGCGTCTGT CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccAgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAcacagcgtctgtAGATCGAGACCCGACGC chr11:126171270-Reference-A;Patient-62 chr11:126171270-AC DeNovo Patient-62 intergenic NA 0.000513 0.01 2.86 0.43 ST3GAL4 54269 Alternative T aacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggc CAGTTACGATGG CGACGCGGTCTCTCTCTaacctgggaggtgaaggttgcagtgagccaagattgcaccactgtactccTgcctgggtgacagagtgagactctgtctcaaagaaagaaaaaaaagggcAGAGGGAGACGGACGTCTCAATAAcagttacgatggAGATCGAGACCCGACGC chr11:126171270-Alternative-T;Patient-62 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Reference G gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa ATCGACACGCGA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAatcgacacgcgaAGATCGAGACCCGACGC chr11:128545850-Reference-G;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Reference G gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa ATTCAAGTGCCG CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAattcaagtgccgAGATCGAGACCCGACGC chr11:128545850-Reference-G;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative T gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa ACGCGGTAGTAC CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAacgcggtagtacAGATCGAGACCCGACGC chr11:128545850-Alternative-T;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Reference G gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GGCGGCATTGAA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAggcggcattgaaAGATCGAGACCCGACGC chr11:128545850-Reference-G;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Reference G gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GGATGCGATCGT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAggatgcgatcgtAGATCGAGACCCGACGC chr11:128545850-Reference-G;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Variant C gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CTCTAGTGGTAA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAActctagtggtaaAGATCGAGACCCGACGC chr11:128545850-Variant-C;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Variant C gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CGCGCTAATATT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcgcgctaatattAGATCGAGACCCGACGC chr11:128545850-Variant-C;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Reference G gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa AGCCACGCTAAG CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaGaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAagccacgctaagAGATCGAGACCCGACGC chr11:128545850-Reference-G;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative A gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CAGGTGACCGAA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcaggtgaccgaaAGATCGAGACCCGACGC chr11:128545850-Alternative-A;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative T gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GTACCAAGTACG CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAgtaccaagtacgAGATCGAGACCCGACGC chr11:128545850-Alternative-T;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Variant C gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CGAGATAAGCCA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcgagataagccaAGATCGAGACCCGACGC chr11:128545850-Variant-C;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative A gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GCGGAATCGCAT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAgcggaatcgcatAGATCGAGACCCGACGC chr11:128545850-Alternative-A;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative A gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CAGTTCCATTCA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcagttccattcaAGATCGAGACCCGACGC chr11:128545850-Alternative-A;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Variant C gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GCGATTCGACGT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAgcgattcgacgtAGATCGAGACCCGACGC chr11:128545850-Variant-C;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative A gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GATACTCAACCA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAgatactcaaccaAGATCGAGACCCGACGC chr11:128545850-Alternative-A;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative T gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa ACGGCAATAGAT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAacggcaatagatAGATCGAGACCCGACGC chr11:128545850-Alternative-T;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative A gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa AGTCAGCTGCCA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaAaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAagtcagctgccaAGATCGAGACCCGACGC chr11:128545850-Alternative-A;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Variant C gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CAGCGACGAGAT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaCaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcagcgacgagatAGATCGAGACCCGACGC chr11:128545850-Variant-C;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative T gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa GATGAACTCGTT CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAgatgaactcgttAGATCGAGACCCGACGC chr11:128545850-Alternative-T;Patient-26 chr11:128545850-GC DeNovo Patient-26 intergenic NA 0.000513 -0.14 1.06 -1.04 ETS1 88396 Alternative T gaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaa CGCGAATTGTAA CGACGCGGTCTCTCTCTgaaaggaattccattactgaatgtaaaaggaattagtgcaagcactcctaTaccaccacagtaattattgcttaaggtaaaatccaccactgaatgttaaAGAGGGAGACGGACGTCTCAATAAcgcgaattgtaaAGATCGAGACCCGACGC chr11:128545850-Alternative-T;Patient-26 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative A aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttc GCGTATTCGATT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAgcgtattcgattAGATCGAGACCCGACGC chr11:128549006-Alternative-A;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative A aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttc GATTCCTGTCGC CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAgattcctgtcgcAGATCGAGACCCGACGC chr11:128549006-Alternative-A;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative A aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ATAGAGTGCGAG CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAatagagtgcgagAGATCGAGACCCGACGC chr11:128549006-Alternative-A;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Reference C aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ACTCATCACGTT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAactcatcacgttAGATCGAGACCCGACGC chr11:128549006-Reference-C;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative A aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttc GTAAGGCGGCAT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAgtaaggcggcatAGATCGAGACCCGACGC chr11:128549006-Alternative-A;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Reference C aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttc CGCGCCAATGAA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAcgcgccaatgaaAGATCGAGACCCGACGC chr11:128549006-Reference-C;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Reference C aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttc GGAACTTCTAAC CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAggaacttctaacAGATCGAGACCCGACGC chr11:128549006-Reference-C;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Reference C aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttc CTCTAGTCTTGA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAActctagtcttgaAGATCGAGACCCGACGC chr11:128549006-Reference-C;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative T aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttc AGCGTTGTCTAA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAagcgttgtctaaAGATCGAGACCCGACGC chr11:128549006-Alternative-T;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Reference C aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttc CGTTCTGGATAA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatCttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAcgttctggataaAGATCGAGACCCGACGC chr11:128549006-Reference-C;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Variant G aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ACTAAGTCGACT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAactaagtcgactAGATCGAGACCCGACGC chr11:128549006-Variant-G;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative A aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttc CGTCTTCGCTTC CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatAttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAcgtcttcgcttcAGATCGAGACCCGACGC chr11:128549006-Alternative-A;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Variant G aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttc AGTCGACATACG CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAagtcgacatacgAGATCGAGACCCGACGC chr11:128549006-Variant-G;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative T aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttc AGCCGACACATC CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAagccgacacatcAGATCGAGACCCGACGC chr11:128549006-Alternative-T;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative T aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ACGCACGTATAT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAacgcacgtatatAGATCGAGACCCGACGC chr11:128549006-Alternative-T;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative T aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttc CGAGAGCTCGAA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAcgagagctcgaaAGATCGAGACCCGACGC chr11:128549006-Alternative-T;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Variant G aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ACCACGTCGCTT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAaccacgtcgcttAGATCGAGACCCGACGC chr11:128549006-Variant-G;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Alternative T aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttc AGGCCGGTACTT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatTttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAaggccggtacttAGATCGAGACCCGACGC chr11:128549006-Alternative-T;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Variant G aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttc ACCTACATCGAT CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAacctacatcgatAGATCGAGACCCGACGC chr11:128549006-Variant-G;Patient-53 chr11:128549006-CG DeNovo Patient-53 intergenic 3.2e-05 0.000513 0.48 9.22 -1.73 FLI1 7423 Variant G aagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttc GTATCTAGCCTA CGACGCGGTCTCTCTCTaagcaatgaaaatttcagagtcaaatactcagctcgtctgtgtgtctaatGttttaaaaagagaaaataggatttggataaacatctatgcccctctttcAGAGGGAGACGGACGTCTCAATAAgtatctagcctaAGATCGAGACCCGACGC chr11:128549006-Variant-G;Patient-53 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Variant G tatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattct CAACACCTATGT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAcaacacctatgtAGATCGAGACCCGACGC chr11:128738550-Variant-G;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Variant G tatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattct GACCGATGCAAG CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgaccgatgcaagAGATCGAGACCCGACGC chr11:128738550-Variant-G;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Variant G tatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattct ACGCTTAGGTCG CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAacgcttaggtcgAGATCGAGACCCGACGC chr11:128738550-Variant-G;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative T tatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattct AGACGCGCAAGA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAagacgcgcaagaAGATCGAGACCCGACGC chr11:128738550-Alternative-T;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Variant G tatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattct CGGATGCTAATT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAcggatgctaattAGATCGAGACCCGACGC chr11:128738550-Variant-G;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative T tatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattct ACTATCGTCGAA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAactatcgtcgaaAGATCGAGACCCGACGC chr11:128738550-Alternative-T;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative T tatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattct AGGCACCGTACA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAaggcaccgtacaAGATCGAGACCCGACGC chr11:128738550-Alternative-T;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative T tatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattct CTCTGATGATAC CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAActctgatgatacAGATCGAGACCCGACGC chr11:128738550-Alternative-T;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Variant G tatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattct AGTATCCTTGCT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattGcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAagtatccttgctAGATCGAGACCCGACGC chr11:128738550-Variant-G;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative C tatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattct GTCGATGTAGTT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgtcgatgtagttAGATCGAGACCCGACGC chr11:128738550-Alternative-C;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Reference A tatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattct ATAGCGTAACCA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAatagcgtaaccaAGATCGAGACCCGACGC chr11:128738550-Reference-A;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative C tatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattct GTCCGTTACAAT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgtccgttacaatAGATCGAGACCCGACGC chr11:128738550-Alternative-C;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Reference A tatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattct CTCTCAATTCGA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAActctcaattcgaAGATCGAGACCCGACGC chr11:128738550-Reference-A;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative T tatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattct AGTAACGCGCGT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattTcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAagtaacgcgcgtAGATCGAGACCCGACGC chr11:128738550-Alternative-T;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Reference A tatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattct CGGATAGATCAA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAcggatagatcaaAGATCGAGACCCGACGC chr11:128738550-Reference-A;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative C tatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattct GATACTTGCGTT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgatacttgcgttAGATCGAGACCCGACGC chr11:128738550-Alternative-C;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Reference A tatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattct AATCGCGTGTTA CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAaatcgcgtgttaAGATCGAGACCCGACGC chr11:128738550-Reference-A;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Reference A tatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattct GAGACTGCCGAT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattAcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgagactgccgatAGATCGAGACCCGACGC chr11:128738550-Reference-A;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative C tatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattct GCATGCTATTGT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAgcatgctattgtAGATCGAGACCCGACGC chr11:128738550-Alternative-C;Patient-27 chr11:128738550-AG DeNovo Patient-27 intergenic 0.000516 0.0246 -0.16 0.94 0 KCNJ1 1281 Alternative C tatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattct AGTCGGACGTCT CGACGCGGTCTCTCTCTtatataacatatattacatattatattctaaatattatataacatatattCcgtattatattctaatatatcatataatatatattatgtattatattctAGAGGGAGACGGACGTCTCAATAAagtcggacgtctAGATCGAGACCCGACGC chr11:128738550-Alternative-C;Patient-27 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative T tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaag ATCTAGCAGTAC CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAatctagcagtacAGATCGAGACCCGACGC chr11:129967215-Alternative-T;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Variant G tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaag CGTCGCTATGCT CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAcgtcgctatgctAGATCGAGACCCGACGC chr11:129967215-Variant-G;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative T tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaag CGAGGTAGATGA CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAcgaggtagatgaAGATCGAGACCCGACGC chr11:129967215-Alternative-T;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Variant G tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaag GCAACAATATCG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAgcaacaatatcgAGATCGAGACCCGACGC chr11:129967215-Variant-G;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative T tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaag GAGTTATCGCTA CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAgagttatcgctaAGATCGAGACCCGACGC chr11:129967215-Alternative-T;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative T tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaag AGTAATTCTGCG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAagtaattctgcgAGATCGAGACCCGACGC chr11:129967215-Alternative-T;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Variant G tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaag ACCTAATCGAAC CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAacctaatcgaacAGATCGAGACCCGACGC chr11:129967215-Variant-G;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Reference A tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaag GCGGTGAGTAAC CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAgcggtgagtaacAGATCGAGACCCGACGC chr11:129967215-Reference-A;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative T tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaag ACACCATGTCCT CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaTattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAacaccatgtcctAGATCGAGACCCGACGC chr11:129967215-Alternative-T;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Reference A tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaag GGTCAGCTGGTT CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAggtcagctggttAGATCGAGACCCGACGC chr11:129967215-Reference-A;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Variant G tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaag ACAAGATACACG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAacaagatacacgAGATCGAGACCCGACGC chr11:129967215-Variant-G;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Reference A tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaag AGTTACACAACG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAagttacacaacgAGATCGAGACCCGACGC chr11:129967215-Reference-A;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Variant G tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaag GGATGAAGCGCA CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaGattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAggatgaagcgcaAGATCGAGACCCGACGC chr11:129967215-Variant-G;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Reference A tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaag CGAATGCACACG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAcgaatgcacacgAGATCGAGACCCGACGC chr11:129967215-Reference-A;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative C tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaag AGAGTCACGACC CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAagagtcacgaccAGATCGAGACCCGACGC chr11:129967215-Alternative-C;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Reference A tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaag AGTAGTCTTCGA CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaAattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAagtagtcttcgaAGATCGAGACCCGACGC chr11:129967215-Reference-A;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative C tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaag GCGACTGGTAAG CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAgcgactggtaagAGATCGAGACCCGACGC chr11:129967215-Alternative-C;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative C tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaag ACTCTATGCGAT CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAactctatgcgatAGATCGAGACCCGACGC chr11:129967215-Alternative-C;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative C tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaag CTCTTATGTGCA CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAActcttatgtgcaAGATCGAGACCCGACGC chr11:129967215-Alternative-C;Patient-88 chr11:129967215-AG DeNovo Patient-88 intronic APLP2 NA 4.95e-05 -0.15 1 0.51 APLP2 27498 Alternative C tttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaag AGCTAAGCGTCT CGACGCGGTCTCTCTCTtttaaagtgtaaagtttctctctccctgccctgtgaaaatcattttggcaCattgtcagattttcttgttataagcaaagatatgggttattcacccaagAGAGGGAGACGGACGTCTCAATAAagctaagcgtctAGATCGAGACCCGACGC chr11:129967215-Alternative-C;Patient-88 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative G actctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GCATGTCGAATT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAgcatgtcgaattAGATCGAGACCCGACGC chr11:13259543-Alternative-G;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Reference T actctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CTGGTTGCTAGG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAActggttgctaggAGATCGAGACCCGACGC chr11:13259543-Reference-T;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Reference T actctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GTTCAAGCATCG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAgttcaagcatcgAGATCGAGACCCGACGC chr11:13259543-Reference-T;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Reference T actctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CTAAGCCGTGGT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAActaagccgtggtAGATCGAGACCCGACGC chr11:13259543-Reference-T;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative G actctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CGGTGGAGAGAT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAcggtggagagatAGATCGAGACCCGACGC chr11:13259543-Alternative-G;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Reference T actctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GGATGTTCTAGA CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAggatgttctagaAGATCGAGACCCGACGC chr11:13259543-Reference-T;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative G actctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GGTGGATATTCT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAggtggatattctAGATCGAGACCCGACGC chr11:13259543-Alternative-G;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative G actctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CGAAGATTAGCG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAcgaagattagcgAGATCGAGACCCGACGC chr11:13259543-Alternative-G;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Reference T actctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg AGTACTCGCAAT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatTtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAagtactcgcaatAGATCGAGACCCGACGC chr11:13259543-Reference-T;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative G actctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CAGTTGAACGCG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatGtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAcagttgaacgcgAGATCGAGACCCGACGC chr11:13259543-Alternative-G;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative A actctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg ATCCGAACTAGA CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAatccgaactagaAGATCGAGACCCGACGC chr11:13259543-Alternative-A;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative A actctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CGTACTTGCGAG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAcgtacttgcgagAGATCGAGACCCGACGC chr11:13259543-Alternative-A;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative A actctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GGATACTTATCG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAggatacttatcgAGATCGAGACCCGACGC chr11:13259543-Alternative-A;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative A actctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg AGCTGGTCGTGT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAagctggtcgtgtAGATCGAGACCCGACGC chr11:13259543-Alternative-A;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Variant C actctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg AGCACGAACGCA CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAagcacgaacgcaAGATCGAGACCCGACGC chr11:13259543-Variant-C;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Variant C actctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg AGCGGCAATAAG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAagcggcaataagAGATCGAGACCCGACGC chr11:13259543-Variant-C;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Variant C actctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg GCGTTCCACGAT CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAgcgttccacgatAGATCGAGACCCGACGC chr11:13259543-Variant-C;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Variant C actctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg CTTGTACCGCAG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAActtgtaccgcagAGATCGAGACCCGACGC chr11:13259543-Variant-C;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Alternative A actctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg AGTAGAATCGTC CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatAtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAagtagaatcgtcAGATCGAGACCCGACGC chr11:13259543-Alternative-A;Patient-25 chr11:13259543-TC Inherited Patient-25 intergenic 3.2e-05 0.000513 1.96 18.84 2.78 ARNTL 39781 Variant C actctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacg ACCAATGTGCCG CGACGCGGTCTCTCTCTactctgttataaatctgctctgggggaggagagcgatgttgcctggagatCtttattcatttgaaaatgttaccattcacccagtgaaagccagagaacgAGAGGGAGACGGACGTCTCAATAAaccaatgtgccgAGATCGAGACCCGACGC chr11:13259543-Variant-C;Patient-25 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative T ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CTAAGGAATGGT CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAActaaggaatggtAGATCGAGACCCGACGC chr11:133729299-Alternative-T;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Reference G ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CGACAATTAGCG CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAcgacaattagcgAGATCGAGACCCGACGC chr11:133729299-Reference-G;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Reference G ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GACGAATGCGCA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgacgaatgcgcaAGATCGAGACCCGACGC chr11:133729299-Reference-G;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Variant A ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt ATTACCACATCG CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAattaccacatcgAGATCGAGACCCGACGC chr11:133729299-Variant-A;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative T ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CGGTAGATTGAC CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAcggtagattgacAGATCGAGACCCGACGC chr11:133729299-Alternative-T;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Reference G ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GTAGCCAAGTTA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgtagccaagttaAGATCGAGACCCGACGC chr11:133729299-Reference-G;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Variant A ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt AGATGTCCGTGC CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAagatgtccgtgcAGATCGAGACCCGACGC chr11:133729299-Variant-A;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Reference G ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CTCATCTAAGCA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAActcatctaagcaAGATCGAGACCCGACGC chr11:133729299-Reference-G;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Reference G ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt AGCGTGATTCTA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacGtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAagcgtgattctaAGATCGAGACCCGACGC chr11:133729299-Reference-G;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative T ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CAGGCGACTACA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAcaggcgactacaAGATCGAGACCCGACGC chr11:133729299-Alternative-T;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Variant A ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt ATTACTTGCGTC CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAattacttgcgtcAGATCGAGACCCGACGC chr11:133729299-Variant-A;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Variant A ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CAGATCGATCAT CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAcagatcgatcatAGATCGAGACCCGACGC chr11:133729299-Variant-A;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Variant A ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GTCAATCAGCCA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacAtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgtcaatcagccaAGATCGAGACCCGACGC chr11:133729299-Variant-A;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative T ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GATGTCGTCTAA CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgatgtcgtctaaAGATCGAGACCCGACGC chr11:133729299-Alternative-T;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative T ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt AATCGTTGATGG CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacTtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAaatcgttgatggAGATCGAGACCCGACGC chr11:133729299-Alternative-T;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative C ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GCGTGTCTTATT CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgcgtgtcttattAGATCGAGACCCGACGC chr11:133729299-Alternative-C;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative C ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt ATATGCCGACGG CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAatatgccgacggAGATCGAGACCCGACGC chr11:133729299-Alternative-C;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative C ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt GTAACGAGTTCT CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAgtaacgagttctAGATCGAGACCCGACGC chr11:133729299-Alternative-C;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative C ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt ACGAGAGCTGAC CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAacgagagctgacAGATCGAGACCCGACGC chr11:133729299-Alternative-C;Patient-88 chr11:133729299-GA DeNovo Patient-88 intergenic 0.000255 0.00205 0.54 9.71 0 IGSF9B 97349 Alternative C ttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggttt CACAATCGCTTC CGACGCGGTCTCTCTCTttgcagcatttccacagaaactttttaatatctatagtgttggtggtcacCtcctgtctttcagtcctaattttagtaatttgttatgttctctaggtttAGAGGGAGACGGACGTCTCAATAAcacaatcgcttcAGATCGAGACCCGACGC chr11:133729299-Alternative-C;Patient-88 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative G tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GGCTCAACTATA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAggctcaactataAGATCGAGACCCGACGC chr11:134078263-Alternative-G;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative G tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa ACAACTAGTTCG CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAacaactagttcgAGATCGAGACCCGACGC chr11:134078263-Alternative-G;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative G tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa CACTTCTCACTT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAcacttctcacttAGATCGAGACCCGACGC chr11:134078263-Alternative-G;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative G tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GTAACACGAAGG CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgtaacacgaaggAGATCGAGACCCGACGC chr11:134078263-Alternative-G;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative G tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GTGCCGATGACT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaGgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgtgccgatgactAGATCGAGACCCGACGC chr11:134078263-Alternative-G;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Reference T tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa AGCTAAGCAGTT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAagctaagcagttAGATCGAGACCCGACGC chr11:134078263-Reference-T;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Reference T tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCGAATTAGTCT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgcgaattagtctAGATCGAGACCCGACGC chr11:134078263-Reference-T;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative A tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa CTTGCTCGAGCA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAActtgctcgagcaAGATCGAGACCCGACGC chr11:134078263-Alternative-A;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Reference T tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa ACTCGGATAAGA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAactcggataagaAGATCGAGACCCGACGC chr11:134078263-Reference-T;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Reference T tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCAACGATACGG CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgcaacgatacggAGATCGAGACCCGACGC chr11:134078263-Reference-T;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Reference T tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GGACATAAGGCA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaTgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAggacataaggcaAGATCGAGACCCGACGC chr11:134078263-Reference-T;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Variant C tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCCGTGAGAACT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgccgtgagaactAGATCGAGACCCGACGC chr11:134078263-Variant-C;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative A tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa CACACGACTACA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAcacacgactacaAGATCGAGACCCGACGC chr11:134078263-Alternative-A;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Variant C tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GATACTCCTAGA CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgatactcctagaAGATCGAGACCCGACGC chr11:134078263-Variant-C;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative A tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCCGATGTGAAC CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgccgatgtgaacAGATCGAGACCCGACGC chr11:134078263-Alternative-A;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative A tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCCGCCGTTATT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgccgccgttattAGATCGAGACCCGACGC chr11:134078263-Alternative-A;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Variant C tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa ATCAATGTCACG CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAatcaatgtcacgAGATCGAGACCCGACGC chr11:134078263-Variant-C;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Variant C tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GTAACAGCGTAT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgtaacagcgtatAGATCGAGACCCGACGC chr11:134078263-Variant-C;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Variant C tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa CGTTGTTAGCTT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaCgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAcgttgttagcttAGATCGAGACCCGACGC chr11:134078263-Variant-C;Patient-66 chr11:134078263-TC DeNovo Patient-66 intronic NCAPD3 3.2e-05 4.95e-05 0.14 4.95 -0.26 NCAPD3 16162 Alternative A tctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaa GCCGCTAATTAT CGACGCGGTCTCTCTCTtctagtagtagtggcgttcaggtaacctggaggcaaaacccaggtatccaAgctgaccacgggtgacaacctacaaaatttccatagcatatcaacacaaAGAGGGAGACGGACGTCTCAATAAgccgctaattatAGATCGAGACCCGACGC chr11:134078263-Alternative-A;Patient-66 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Reference A tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CAACCAACACGT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAcaaccaacacgtAGATCGAGACCCGACGC chr11:134190643-Reference-A;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Variant C tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CTCGTGTTCGGT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAActcgtgttcggtAGATCGAGACCCGACGC chr11:134190643-Variant-C;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Variant C tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CGTGTCGACTTC CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAcgtgtcgacttcAGATCGAGACCCGACGC chr11:134190643-Variant-C;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Reference A tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ACGTGTAGTGAA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAacgtgtagtgaaAGATCGAGACCCGACGC chr11:134190643-Reference-A;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Variant C tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ATCTCGACGAAC CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAatctcgacgaacAGATCGAGACCCGACGC chr11:134190643-Variant-C;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Variant C tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GGTAGGATTGCG CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAggtaggattgcgAGATCGAGACCCGACGC chr11:134190643-Variant-C;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Reference A tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CAGAGGCGTGTT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAcagaggcgtgttAGATCGAGACCCGACGC chr11:134190643-Reference-A;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Variant C tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ATATTAAGGCCG CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaCacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAatattaaggccgAGATCGAGACCCGACGC chr11:134190643-Variant-C;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Reference A tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GAATCGATAGCA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgaatcgatagcaAGATCGAGACCCGACGC chr11:134190643-Reference-A;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Reference A tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GACATTCAACCA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaAacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgacattcaaccaAGATCGAGACCCGACGC chr11:134190643-Reference-A;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative T tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ATCGAGCATGTT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAatcgagcatgttAGATCGAGACCCGACGC chr11:134190643-Alternative-T;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative G tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GATACTCAACGT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgatactcaacgtAGATCGAGACCCGACGC chr11:134190643-Alternative-G;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative G tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GTAATCTGGTCA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgtaatctggtcaAGATCGAGACCCGACGC chr11:134190643-Alternative-G;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative T tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GATAGCGATAGT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgatagcgatagtAGATCGAGACCCGACGC chr11:134190643-Alternative-T;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative T tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CGTTCGGCATGA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAcgttcggcatgaAGATCGAGACCCGACGC chr11:134190643-Alternative-T;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative G tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca GACCGAGGTAAG CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAgaccgaggtaagAGATCGAGACCCGACGC chr11:134190643-Alternative-G;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative G tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ACTGGCCGGTAA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAactggccggtaaAGATCGAGACCCGACGC chr11:134190643-Alternative-G;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative G tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca CTTGCGACCAAT CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaGacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAActtgcgaccaatAGATCGAGACCCGACGC chr11:134190643-Alternative-G;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative T tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca AGATGCTACATC CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAagatgctacatcAGATCGAGACCCGACGC chr11:134190643-Alternative-T;Patient-59 chr11:134190643-AC DeNovo Patient-59 intergenic 9.6e-05 0.00103 0.05 3.51 1.22 ACAD8 67208 Alternative T tagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatca ACCGATAAGACA CGACGCGGTCTCTCTCTtagaattctttacccagcaaaactattttacaagaaaaacaaaaaaaaaaTacaaaatatagaactttctgacaaacaaaaaccaagagagttatcatcaAGAGGGAGACGGACGTCTCAATAAaccgataagacaAGATCGAGACCCGACGC chr11:134190643-Alternative-T;Patient-59 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative C ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GGTCGGAACATC CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAggtcggaacatcAGATCGAGACCCGACGC chr11:13706313-Alternative-C;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative C ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GCCTTACGGCAT CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAgccttacggcatAGATCGAGACCCGACGC chr11:13706313-Alternative-C;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative C ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CTAGTTGGTGAT CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAActagttggtgatAGATCGAGACCCGACGC chr11:13706313-Alternative-C;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Variant G ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GTCAATACGTGT CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAgtcaatacgtgtAGATCGAGACCCGACGC chr11:13706313-Variant-G;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Variant G ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt AACGATAGAGCG CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAaacgatagagcgAGATCGAGACCCGACGC chr11:13706313-Variant-G;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative T ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GGATAGGTAGCA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAggataggtagcaAGATCGAGACCCGACGC chr11:13706313-Alternative-T;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Variant G ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GCAATCTTGCGG CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAgcaatcttgcggAGATCGAGACCCGACGC chr11:13706313-Variant-G;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative T ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GGTAACATGCTT CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAggtaacatgcttAGATCGAGACCCGACGC chr11:13706313-Alternative-T;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Variant G ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CTCTGCCGTCTA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAActctgccgtctaAGATCGAGACCCGACGC chr11:13706313-Variant-G;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Variant G ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt AAGACGACGTCG CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaGtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAaagacgacgtcgAGATCGAGACCCGACGC chr11:13706313-Variant-G;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Reference A ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GTATAGTAGCGA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAgtatagtagcgaAGATCGAGACCCGACGC chr11:13706313-Reference-A;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative T ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CAAGCTGGCGTT CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAcaagctggcgttAGATCGAGACCCGACGC chr11:13706313-Alternative-T;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative T ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CTTGTCTCGTAA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAActtgtctcgtaaAGATCGAGACCCGACGC chr11:13706313-Alternative-T;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Reference A ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt ACGAGTGATCGC CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAacgagtgatcgcAGATCGAGACCCGACGC chr11:13706313-Reference-A;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative T ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt AAGCGTCTTCTA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaTtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAaagcgtcttctaAGATCGAGACCCGACGC chr11:13706313-Alternative-T;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative C ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt GACCACGGTTCA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAgaccacggttcaAGATCGAGACCCGACGC chr11:13706313-Alternative-C;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Alternative C ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt ATTCGGTCAACA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaCtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAattcggtcaacaAGATCGAGACCCGACGC chr11:13706313-Alternative-C;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Reference A ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt ACTAGGTGTATC CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAactaggtgtatcAGATCGAGACCCGACGC chr11:13706313-Reference-A;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Reference A ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CTGAGTGTACTA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAActgagtgtactaAGATCGAGACCCGACGC chr11:13706313-Reference-A;Patient-89 chr11:13706313-AG Inherited Patient-89 intronic FAR1 0.000127 0.00016 0.94 12.89 2.67 FAR1 16106 Reference A ctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccatt CATCGTTGTGAA CGACGCGGTCTCTCTCTctcatttcattcagtattgaaaatgttttcactaaacatttagtttcctaAtagctcactagtctgtgtactttattgctttgtgaacatggtgaccattAGAGGGAGACGGACGTCTCAATAAcatcgttgtgaaAGATCGAGACCCGACGC chr11:13706313-Reference-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Reference G gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa ACACCGTAACAG CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAacaccgtaacagAGATCGAGACCCGACGC chr11:14662010-Reference-G;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Reference G gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa CGCTAGTACGAG CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAcgctagtacgagAGATCGAGACCCGACGC chr11:14662010-Reference-G;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Reference G gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GCGACCAATATC CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAgcgaccaatatcAGATCGAGACCCGACGC chr11:14662010-Reference-G;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Reference G gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AATAGTGCCGAA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAaatagtgccgaaAGATCGAGACCCGACGC chr11:14662010-Reference-G;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Variant A gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GGTGTCGGTCTA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAggtgtcggtctaAGATCGAGACCCGACGC chr11:14662010-Variant-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Variant A gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa CGATGTGGTAAC CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAcgatgtggtaacAGATCGAGACCCGACGC chr11:14662010-Variant-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Variant A gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AGAATGTCACGA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAagaatgtcacgaAGATCGAGACCCGACGC chr11:14662010-Variant-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Variant A gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa CTCAACCGGTAC CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAActcaaccggtacAGATCGAGACCCGACGC chr11:14662010-Variant-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative T gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa ACCGAGTCTCGT CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAaccgagtctcgtAGATCGAGACCCGACGC chr11:14662010-Alternative-T;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative T gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa ATCGTAGGCGCA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAatcgtaggcgcaAGATCGAGACCCGACGC chr11:14662010-Alternative-T;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Reference G gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AGCACGACATAA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaGctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAagcacgacataaAGATCGAGACCCGACGC chr11:14662010-Reference-G;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Variant A gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa ACAATTAACGCG CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaActctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAacaattaacgcgAGATCGAGACCCGACGC chr11:14662010-Variant-A;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative T gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GGTTGTCCGTCT CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAggttgtccgtctAGATCGAGACCCGACGC chr11:14662010-Alternative-T;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative C gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa CAAGACGTCGCT CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAcaagacgtcgctAGATCGAGACCCGACGC chr11:14662010-Alternative-C;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative C gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AGCAGACGACAC CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAagcagacgacacAGATCGAGACCCGACGC chr11:14662010-Alternative-C;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative T gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GTACGTGTGATA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAgtacgtgtgataAGATCGAGACCCGACGC chr11:14662010-Alternative-T;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative C gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AACAGCGCATCG CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAaacagcgcatcgAGATCGAGACCCGACGC chr11:14662010-Alternative-C;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative C gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa AGTTAGGAACGA CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAagttaggaacgaAGATCGAGACCCGACGC chr11:14662010-Alternative-C;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative T gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GGCCGTATCAAG CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaTctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAggccgtatcaagAGATCGAGACCCGACGC chr11:14662010-Alternative-T;Patient-89 chr11:14662010-GA DeNovo Patient-89 intronic PSMA1 NA 0.00016 -0.21 0.66 -3.12 PSMA1 3169 Alternative C gctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaa GAGATGTAGGTT CGACGCGGTCTCTCTCTgctatttaatagtctatgtgcagacattctatctcccagataaagctgcaCctctgagaaaactctgaaggacctgttatagttttaaaaaatgttctaaAGAGGGAGACGGACGTCTCAATAAgagatgtaggttAGATCGAGACCCGACGC chr11:14662010-Alternative-C;Patient-89 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative T atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc CGTTGATCCGGT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAcgttgatccggtAGATCGAGACCCGACGC chr11:15057043-Alternative-T;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Variant G atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GGTATCACGTGC CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAggtatcacgtgcAGATCGAGACCCGACGC chr11:15057043-Variant-G;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative T atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GGCTACGGTTGT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAggctacggttgtAGATCGAGACCCGACGC chr11:15057043-Alternative-T;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative T atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GGTAATCGTAAG CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAggtaatcgtaagAGATCGAGACCCGACGC chr11:15057043-Alternative-T;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Variant G atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ACGCATCAGTAT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAacgcatcagtatAGATCGAGACCCGACGC chr11:15057043-Variant-G;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Variant G atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc CAAGATAAGCGT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAcaagataagcgtAGATCGAGACCCGACGC chr11:15057043-Variant-G;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Variant G atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ACCGATCAGTAC CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAaccgatcagtacAGATCGAGACCCGACGC chr11:15057043-Variant-G;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative T atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ACTTAACCGTGG CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAacttaaccgtggAGATCGAGACCCGACGC chr11:15057043-Alternative-T;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Reference A atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GCGAAGTCATAA CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAgcgaagtcataaAGATCGAGACCCGACGC chr11:15057043-Reference-A;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative T atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ATAGATCAAGCG CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccTtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAatagatcaagcgAGATCGAGACCCGACGC chr11:15057043-Alternative-T;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Variant G atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc CAGAGCTCTAAT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccGtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAcagagctctaatAGATCGAGACCCGACGC chr11:15057043-Variant-G;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Reference A atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc CGATGCGTGCAT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAcgatgcgtgcatAGATCGAGACCCGACGC chr11:15057043-Reference-A;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Reference A atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc AGACGCCAACCA CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAagacgccaaccaAGATCGAGACCCGACGC chr11:15057043-Reference-A;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative C atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GCCAACCAACTA CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAgccaaccaactaAGATCGAGACCCGACGC chr11:15057043-Alternative-C;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative C atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GACGCGTAATTA CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAgacgcgtaattaAGATCGAGACCCGACGC chr11:15057043-Alternative-C;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Reference A atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GCAGAAGCAGTC CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAgcagaagcagtcAGATCGAGACCCGACGC chr11:15057043-Reference-A;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Reference A atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc CAGATATCCAGG CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccAtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAcagatatccaggAGATCGAGACCCGACGC chr11:15057043-Reference-A;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative C atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ACTATGGTATCG CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAactatggtatcgAGATCGAGACCCGACGC chr11:15057043-Alternative-C;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative C atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc GCGTAATCATAC CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAgcgtaatcatacAGATCGAGACCCGACGC chr11:15057043-Alternative-C;Patient-30 chr11:15057043-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA CALCB 38102 Alternative C atttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctccc ACCGTACACACT CGACGCGGTCTCTCTCTatttgggcagccgcagccccgcccaggagggcggggctcctgcctgctccCtggtgcaggctgggtctgcaggcgcggtttgggcacctgcggagctcccAGAGGGAGACGGACGTCTCAATAAaccgtacacactAGATCGAGACCCGACGC chr11:15057043-Alternative-C;Patient-30 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Reference T taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa AATAACGGCTGA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAaataacggctgaAGATCGAGACCCGACGC chr11:16559163-Reference-T;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative G taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa GACTAGGCGTGT CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAgactaggcgtgtAGATCGAGACCCGACGC chr11:16559163-Alternative-G;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative G taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa ATAAGGAGTAGG CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAataaggagtaggAGATCGAGACCCGACGC chr11:16559163-Alternative-G;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Reference T taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa GACTGGTGGTAC CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAgactggtggtacAGATCGAGACCCGACGC chr11:16559163-Reference-T;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative G taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa AAGACTGGATAC CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAaagactggatacAGATCGAGACCCGACGC chr11:16559163-Alternative-G;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative G taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CAGCATGTCTAA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcagcatgtctaaAGATCGAGACCCGACGC chr11:16559163-Alternative-G;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Reference T taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CGCGTCGTGTAA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcgcgtcgtgtaaAGATCGAGACCCGACGC chr11:16559163-Reference-T;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Reference T taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CTAATGCACAAC CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAActaatgcacaacAGATCGAGACCCGACGC chr11:16559163-Reference-T;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative G taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CTACGGATGTAA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgGagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAActacggatgtaaAGATCGAGACCCGACGC chr11:16559163-Alternative-G;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Reference T taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CGTTCTCATCGG CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgTagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcgttctcatcggAGATCGAGACCCGACGC chr11:16559163-Reference-T;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative A taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa AACGGCTTAAGA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAaacggcttaagaAGATCGAGACCCGACGC chr11:16559163-Alternative-A;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative A taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa AACCGACACTTA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAaaccgacacttaAGATCGAGACCCGACGC chr11:16559163-Alternative-A;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Variant C taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CACTATCGGCGT CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcactatcggcgtAGATCGAGACCCGACGC chr11:16559163-Variant-C;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Variant C taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CGCGAAGAATAT CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcgcgaagaatatAGATCGAGACCCGACGC chr11:16559163-Variant-C;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative A taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa CGCGTACATCCA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAcgcgtacatccaAGATCGAGACCCGACGC chr11:16559163-Alternative-A;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Variant C taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa AAGTTAGACCGA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAaagttagaccgaAGATCGAGACCCGACGC chr11:16559163-Variant-C;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative A taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa GATGAACTTGCT CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAgatgaacttgctAGATCGAGACCCGACGC chr11:16559163-Alternative-A;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Variant C taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa GCGTATCGTGCA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAgcgtatcgtgcaAGATCGAGACCCGACGC chr11:16559163-Variant-C;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Alternative A taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa ACTCTTGAACGA CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgAagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAactcttgaacgaAGATCGAGACCCGACGC chr11:16559163-Alternative-A;Patient-58 chr11:16559163-TC Inherited Patient-58 intergenic 0.000956 0.00103 -0.01 2.48 0.11 SOX6 61227 Variant C taaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaa ACAATGGTGGAG CGACGCGGTCTCTCTCTtaaaaaccttgaaaaaaggttagatgaatggctacatagaataaacagtgCagagaagacttcaaatgacctgatggagctgaaaaccacagcatgagaaAGAGGGAGACGGACGTCTCAATAAacaatggtggagAGATCGAGACCCGACGC chr11:16559163-Variant-C;Patient-58 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative A attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtctt ACTCAACGGTCC CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAactcaacggtccAGATCGAGACCCGACGC chr11:16565788-Alternative-A;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Variant C attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtctt GATCACCAAGAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgatcaccaagaaAGATCGAGACCCGACGC chr11:16565788-Variant-C;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative A attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtctt AGAGTGTGATCA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAagagtgtgatcaAGATCGAGACCCGACGC chr11:16565788-Alternative-A;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative A attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtctt GTACGTTGGTAT CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgtacgttggtatAGATCGAGACCCGACGC chr11:16565788-Alternative-A;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative A attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtctt ACTTCTGTCGCG CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAacttctgtcgcgAGATCGAGACCCGACGC chr11:16565788-Alternative-A;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Variant C attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtctt GGCGCTAATTAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAggcgctaattaaAGATCGAGACCCGACGC chr11:16565788-Variant-C;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Variant C attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtctt AATGGCACGGCA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAaatggcacggcaAGATCGAGACCCGACGC chr11:16565788-Variant-C;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Variant C attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtctt CAACGCTGACGT CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAcaacgctgacgtAGATCGAGACCCGACGC chr11:16565788-Variant-C;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Variant C attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtctt AATGCTAAGCGT CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagCagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAaatgctaagcgtAGATCGAGACCCGACGC chr11:16565788-Variant-C;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative G attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtctt AGGACGCGCTAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAaggacgcgctaaAGATCGAGACCCGACGC chr11:16565788-Alternative-G;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative G attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtctt ATAATCGCGGAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAataatcgcggaaAGATCGAGACCCGACGC chr11:16565788-Alternative-G;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative G attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtctt GACAGTAACGGC CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgacagtaacggcAGATCGAGACCCGACGC chr11:16565788-Alternative-G;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Reference T attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtctt GTGCCAGTAAGG CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgtgccagtaaggAGATCGAGACCCGACGC chr11:16565788-Reference-T;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Reference T attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtctt GCGTGACATCAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgcgtgacatcaaAGATCGAGACCCGACGC chr11:16565788-Reference-T;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Reference T attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtctt GGACGCGTGTAA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAggacgcgtgtaaAGATCGAGACCCGACGC chr11:16565788-Reference-T;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative A attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtctt ACTTCGCGGAGA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagAagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAacttcgcggagaAGATCGAGACCCGACGC chr11:16565788-Alternative-A;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Reference T attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtctt ACGATTCACCAT CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAacgattcaccatAGATCGAGACCCGACGC chr11:16565788-Reference-T;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Reference T attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtctt GGATAGTTAGGT CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagTagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAggatagttaggtAGATCGAGACCCGACGC chr11:16565788-Reference-T;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative G attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtctt CGGCTCTTAGTC CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAcggctcttagtcAGATCGAGACCCGACGC chr11:16565788-Alternative-G;Patient-87 chr11:16565788-TC DeNovo Patient-87 intergenic NA 0.000513 0.62 10.47 0.15 SOX6 67852 Alternative G attgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtctt GCCGCTACTCTA CGACGCGGTCTCTCTCTattgccctgggattgggggtgggagaaatggtgagtgactgcttaaaaagGagttttgggttttatcttgtttcattttgttttctggagacagggtcttAGAGGGAGACGGACGTCTCAATAAgccgctactctaAGATCGAGACCCGACGC chr11:16565788-Alternative-G;Patient-87 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Variant C ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg GTCAACGGTATT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAgtcaacggtattAGATCGAGACCCGACGC chr11:1691788-Variant-C;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Variant C ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CACATACGCACG CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcacatacgcacgAGATCGAGACCCGACGC chr11:1691788-Variant-C;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Variant C ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg GATAATCGTCCA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAgataatcgtccaAGATCGAGACCCGACGC chr11:1691788-Variant-C;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative A ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg ATTAACGGACCT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAattaacggacctAGATCGAGACCCGACGC chr11:1691788-Alternative-A;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative G ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg AACAGGCTCATT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAaacaggctcattAGATCGAGACCCGACGC chr11:1691788-Alternative-G;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Variant C ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CTCGCCAAGCAT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAActcgccaagcatAGATCGAGACCCGACGC chr11:1691788-Variant-C;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Reference T ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg GCGGAAGCGATA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAgcggaagcgataAGATCGAGACCCGACGC chr11:1691788-Reference-T;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Variant C ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg AACGCGTACGCT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagCgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAaacgcgtacgctAGATCGAGACCCGACGC chr11:1691788-Variant-C;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative G ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg ATTCTGGTCCTA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAattctggtcctaAGATCGAGACCCGACGC chr11:1691788-Alternative-G;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative G ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg ACTTGTACGTGA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAacttgtacgtgaAGATCGAGACCCGACGC chr11:1691788-Alternative-G;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative G ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg ATCCTACGAGCG CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAatcctacgagcgAGATCGAGACCCGACGC chr11:1691788-Alternative-G;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative A ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CACATCGCAATA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcacatcgcaataAGATCGAGACCCGACGC chr11:1691788-Alternative-A;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Reference T ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg GTATTAGGTCGT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAgtattaggtcgtAGATCGAGACCCGACGC chr11:1691788-Reference-T;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative A ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg AAGTGTTCAAGG CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAaagtgttcaaggAGATCGAGACCCGACGC chr11:1691788-Alternative-A;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative G ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CTCTCGAGCTGT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagGgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAActctcgagctgtAGATCGAGACCCGACGC chr11:1691788-Alternative-G;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative A ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg AACGCAAGCGCA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAaacgcaagcgcaAGATCGAGACCCGACGC chr11:1691788-Alternative-A;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Alternative A ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CATGTGGTATCA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagAgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcatgtggtatcaAGATCGAGACCCGACGC chr11:1691788-Alternative-A;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Reference T ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CGATTAGTAAGG CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcgattagtaaggAGATCGAGACCCGACGC chr11:1691788-Reference-T;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Reference T ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CGAGTTATGCGA CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcgagttatgcgaAGATCGAGACCCGACGC chr11:1691788-Reference-T;Patient-8 chr11:1691788-TC DeNovo Patient-8 intergenic 0.000102 0.000243428 -0.31 0.34 0.15 CTSD 93433 Reference T ggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtgg CGCGAACTGAAT CGACGCGGTCTCTCTCTggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagTgtgggcagtgtgggtagtgtgggtaatgtggatagtgtgggtagtgtggAGAGGGAGACGGACGTCTCAATAAcgcgaactgaatAGATCGAGACCCGACGC chr11:1691788-Reference-T;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative A tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GGATATCGGCAG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAggatatcggcagAGATCGAGACCCGACGC chr11:1691799-Alternative-A;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative A tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AGTGCGGTATGC CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAagtgcggtatgcAGATCGAGACCCGACGC chr11:1691799-Alternative-A;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative A tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GTAGAAGAGTCT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgtagaagagtctAGATCGAGACCCGACGC chr11:1691799-Alternative-A;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative A tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GCGTCAGAATAA CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgcgtcagaataaAGATCGAGACCCGACGC chr11:1691799-Alternative-A;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative G tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GCGTACATTCTT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgcgtacattcttAGATCGAGACCCGACGC chr11:1691799-Alternative-G;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Variant C tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GATACTCGTGCG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgatactcgtgcgAGATCGAGACCCGACGC chr11:1691799-Variant-C;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Variant C tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AGCCGGCATAAG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAagccggcataagAGATCGAGACCCGACGC chr11:1691799-Variant-C;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Variant C tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GAGCATCGACAC CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgagcatcgacacAGATCGAGACCCGACGC chr11:1691799-Variant-C;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Variant C tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt CATAAGTGAGCG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAcataagtgagcgAGATCGAGACCCGACGC chr11:1691799-Variant-C;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Reference T tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GTCTCTTGACAT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgtctcttgacatAGATCGAGACCCGACGC chr11:1691799-Reference-T;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Reference T tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GACATCGGCATC CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgacatcggcatcAGATCGAGACCCGACGC chr11:1691799-Reference-T;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Variant C tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt GAGACTGGAACT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgCgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAgagactggaactAGATCGAGACCCGACGC chr11:1691799-Variant-C;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative G tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt ATCAATGTGGAG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAatcaatgtggagAGATCGAGACCCGACGC chr11:1691799-Alternative-G;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative A tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt ACGCTGCATAGT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgAgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAacgctgcatagtAGATCGAGACCCGACGC chr11:1691799-Alternative-A;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Reference T tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AATAGGCCAATC CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAaataggccaatcAGATCGAGACCCGACGC chr11:1691799-Reference-T;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative G tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AACAACAGCGGC CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAaacaacagcggcAGATCGAGACCCGACGC chr11:1691799-Alternative-G;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative G tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt ACTAATGTGCGT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAactaatgtgcgtAGATCGAGACCCGACGC chr11:1691799-Alternative-G;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Alternative G tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AGACGGACGTAT CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgGgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAagacggacgtatAGATCGAGACCCGACGC chr11:1691799-Alternative-G;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Reference T tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt CACTAGGTAAGA CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAcactaggtaagaAGATCGAGACCCGACGC chr11:1691799-Reference-T;Patient-8 chr11:1691799-TC DeNovo Patient-8 intergenic NA 0.000243 -0.3 0.36 0.15 CTSD 93422 Reference T tagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggt AAGTAGTGACGG CGACGCGGTCTCTCTCTtagtgtgggcagtgtgggtagtgtgggcagtgtgggtagtgtgggcagtgTgggtagtgtgggtaatgtggatagtgtgggtagtgtgggcagtgtgggtAGAGGGAGACGGACGTCTCAATAAaagtagtgacggAGATCGAGACCCGACGC chr11:1691799-Reference-T;Patient-8 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Reference G gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GTTATGACGGAA CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgttatgacggaaAGATCGAGACCCGACGC chr11:17164196-Reference-G;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative T gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GTTCGCCTAGAT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgttcgcctagatAGATCGAGACCCGACGC chr11:17164196-Alternative-T;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative T gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt CGTCTTCATTGA CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAcgtcttcattgaAGATCGAGACCCGACGC chr11:17164196-Alternative-T;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative T gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GGTTCGGCGATT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAggttcggcgattAGATCGAGACCCGACGC chr11:17164196-Alternative-T;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Variant A gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt ACGAGCTGTTCG CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAacgagctgttcgAGATCGAGACCCGACGC chr11:17164196-Variant-A;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative T gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt CGTGTGATCTTA CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAcgtgtgatcttaAGATCGAGACCCGACGC chr11:17164196-Alternative-T;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative C gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GTTAGGATCGTT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgttaggatcgttAGATCGAGACCCGACGC chr11:17164196-Alternative-C;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Reference G gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt AGATCACATGCT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAagatcacatgctAGATCGAGACCCGACGC chr11:17164196-Reference-G;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Reference G gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GTGCTTGTGCAG CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgtgcttgtgcagAGATCGAGACCCGACGC chr11:17164196-Reference-G;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Variant A gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GCCAATCTGGAT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgccaatctggatAGATCGAGACCCGACGC chr11:17164196-Variant-A;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative T gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt ACTTGACAGCAT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggTgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAacttgacagcatAGATCGAGACCCGACGC chr11:17164196-Alternative-T;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative C gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt AATAGTAGGTCG CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAaatagtaggtcgAGATCGAGACCCGACGC chr11:17164196-Alternative-C;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Variant A gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GAGCATCGACCT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgagcatcgacctAGATCGAGACCCGACGC chr11:17164196-Variant-A;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Variant A gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt CTCAACCTAGCT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAActcaacctagctAGATCGAGACCCGACGC chr11:17164196-Variant-A;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Variant A gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GTGTCGTAACTT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggAgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgtgtcgtaacttAGATCGAGACCCGACGC chr11:17164196-Variant-A;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative C gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GGATAAGTCCGG CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAggataagtccggAGATCGAGACCCGACGC chr11:17164196-Alternative-C;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative C gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GACGCAGATCCT CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgacgcagatcctAGATCGAGACCCGACGC chr11:17164196-Alternative-C;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Alternative C gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt GATTACCTGCAA CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggCgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAgattacctgcaaAGATCGAGACCCGACGC chr11:17164196-Alternative-C;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Reference G gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt CATTGGCTGTGG CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAcattggctgtggAGATCGAGACCCGACGC chr11:17164196-Reference-G;Patient-39 chr11:17164196-GA DeNovo Patient-39 intronic PIK3C2A 3.2e-05 4.95e-05 0.6 10.26 0.16 PIK3C2A 27157 Reference G gagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggt CGAACGGCGTTA CGACGCGGTCTCTCTCTgagcccaggagttcaagaccagcccagacaacacagagaaatctgcagggGgttgcagctgcagtgatctgtgatcacaccactgcactccagcttgggtAGAGGGAGACGGACGTCTCAATAAcgaacggcgttaAGATCGAGACCCGACGC chr11:17164196-Reference-G;Patient-39 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Variant C caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GGCTACTGGTAC CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAggctactggtacAGATCGAGACCCGACGC chr11:17414247-Variant-C;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Variant C caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac CAGTTAGCCGGT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAcagttagccggtAGATCGAGACCCGACGC chr11:17414247-Variant-C;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Variant C caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GATGACTAAGGT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgatgactaaggtAGATCGAGACCCGACGC chr11:17414247-Variant-C;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Variant C caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac ATACGCGCGTCT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAatacgcgcgtctAGATCGAGACCCGACGC chr11:17414247-Variant-C;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Variant C caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac AGGTTGACCAAC CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctCttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAaggttgaccaacAGATCGAGACCCGACGC chr11:17414247-Variant-C;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative A caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GTATCCGATCTT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgtatccgatcttAGATCGAGACCCGACGC chr11:17414247-Alternative-A;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Reference G caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GGATACAGGCGT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAggatacaggcgtAGATCGAGACCCGACGC chr11:17414247-Reference-G;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative T caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GGCTGACCATCA CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAggctgaccatcaAGATCGAGACCCGACGC chr11:17414247-Alternative-T;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Reference G caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac AACCAAGCCGTC CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAaaccaagccgtcAGATCGAGACCCGACGC chr11:17414247-Reference-G;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative T caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GCACGAACCTGA CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgcacgaacctgaAGATCGAGACCCGACGC chr11:17414247-Alternative-T;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative T caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac CAGTTGCGTGGT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAcagttgcgtggtAGATCGAGACCCGACGC chr11:17414247-Alternative-T;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Reference G caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GAGCTGAAGACT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgagctgaagactAGATCGAGACCCGACGC chr11:17414247-Reference-G;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative A caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac CGCGATAAGATA CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAcgcgataagataAGATCGAGACCCGACGC chr11:17414247-Alternative-A;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative A caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac AACAGCTGCCGA CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAaacagctgccgaAGATCGAGACCCGACGC chr11:17414247-Alternative-A;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative T caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac ATCGCTTCGAAT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAatcgcttcgaatAGATCGAGACCCGACGC chr11:17414247-Alternative-T;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative T caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GTTACCGTGTGG CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctTttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgttaccgtgtggAGATCGAGACCCGACGC chr11:17414247-Alternative-T;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Reference G caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac CAGCAACTATGT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAcagcaactatgtAGATCGAGACCCGACGC chr11:17414247-Reference-G;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Reference G caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac AGATGCGATCCT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctGttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAagatgcgatcctAGATCGAGACCCGACGC chr11:17414247-Reference-G;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative A caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac CTACGGTAATCA CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAActacggtaatcaAGATCGAGACCCGACGC chr11:17414247-Alternative-A;Patient-30 chr11:17414247-GC Inherited Patient-30 intergenic 3.2e-05 0.000201 NA NA NA KCNJ11 3368 Alternative A caacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgac GCGCTCTGTCTT CGACGCGGTCTCTCTCTcaacaccttgatcccagacttcagcctccagaactgtgagaaaaaagtctAttttaaagccacccagtctgtgatatgttgttgtggcagcctggctgacAGAGGGAGACGGACGTCTCAATAAgcgctctgtcttAGATCGAGACCCGACGC chr11:17414247-Alternative-A;Patient-30 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Variant G gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CTCTGGTTCGCA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAActctggttcgcaAGATCGAGACCCGACGC chr11:17737101-Variant-G;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Variant G gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GTTAACATGCGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAgttaacatgcgtAGATCGAGACCCGACGC chr11:17737101-Variant-G;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Variant G gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagattt AACCGCATACGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAaaccgcatacgtAGATCGAGACCCGACGC chr11:17737101-Variant-G;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Variant G gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CAGATTACGTGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAcagattacgtgtAGATCGAGACCCGACGC chr11:17737101-Variant-G;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Variant G gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CTGGTTACTATC CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaGtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAActggttactatcAGATCGAGACCCGACGC chr11:17737101-Variant-G;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative T gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GAGCATGTCCAT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAgagcatgtccatAGATCGAGACCCGACGC chr11:17737101-Alternative-T;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative T gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CGCTAGTTACTT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAcgctagttacttAGATCGAGACCCGACGC chr11:17737101-Alternative-T;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative T gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GGTTCTAGCCGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAggttctagccgtAGATCGAGACCCGACGC chr11:17737101-Alternative-T;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative T gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GGAGGAATTGGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAggaggaattggtAGATCGAGACCCGACGC chr11:17737101-Alternative-T;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative T gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CGGATCTTGGCA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaTtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAcggatcttggcaAGATCGAGACCCGACGC chr11:17737101-Alternative-T;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative C gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GATGCTGTGTGC CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAgatgctgtgtgcAGATCGAGACCCGACGC chr11:17737101-Alternative-C;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative C gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GACGCGTCGTTA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAgacgcgtcgttaAGATCGAGACCCGACGC chr11:17737101-Alternative-C;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Reference A gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CGTTAACAGACT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAcgttaacagactAGATCGAGACCCGACGC chr11:17737101-Reference-A;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Reference A gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagattt AGATAGAGGCGG CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAagatagaggcggAGATCGAGACCCGACGC chr11:17737101-Reference-A;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative C gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagattt AGATGTCGGCGA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAagatgtcggcgaAGATCGAGACCCGACGC chr11:17737101-Alternative-C;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Reference A gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagattt AGCTTGAGTGGT CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAagcttgagtggtAGATCGAGACCCGACGC chr11:17737101-Reference-A;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Reference A gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagattt GCCGGTTCCATA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAgccggttccataAGATCGAGACCCGACGC chr11:17737101-Reference-A;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Reference A gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagattt ATTCGCTCGAAC CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaAtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAattcgctcgaacAGATCGAGACCCGACGC chr11:17737101-Reference-A;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative C gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagattt AGGAGTATCCGC CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAaggagtatccgcAGATCGAGACCCGACGC chr11:17737101-Alternative-C;Patient-61 chr11:17737101-AG Inherited Patient-61 intergenic 0.000764 0.000513 0.6 10.24 -1.14 MYOD1 4008 Alternative C gaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagattt CAGGTCATATCA CGACGCGGTCTCTCTCTgaaacacaaagcacaaaaagcaaagttgtattcacttgtctcagcatccaCtttattttgtagtttcttgcttattcagatttggggaaaatctagatttAGAGGGAGACGGACGTCTCAATAAcaggtcatatcaAGATCGAGACCCGACGC chr11:17737101-Alternative-C;Patient-61 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative G atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat ACTAAGTCGTAC CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAactaagtcgtacAGATCGAGACCCGACGC chr11:17737507-Alternative-G;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative G atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat CGCTAAGATAAC CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAcgctaagataacAGATCGAGACCCGACGC chr11:17737507-Alternative-G;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative G atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat AAGGCGTAAGCG CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAaaggcgtaagcgAGATCGAGACCCGACGC chr11:17737507-Alternative-G;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative A atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GGAACGGACGAA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAggaacggacgaaAGATCGAGACCCGACGC chr11:17737507-Alternative-A;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Reference T atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat CGCGTATTGAGA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAcgcgtattgagaAGATCGAGACCCGACGC chr11:17737507-Reference-T;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Reference T atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat CGACATATTGAC CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAcgacatattgacAGATCGAGACCCGACGC chr11:17737507-Reference-T;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Reference T atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GTAAGCATTCCA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgtaagcattccaAGATCGAGACCCGACGC chr11:17737507-Reference-T;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Reference T atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat ATCGACAGAGGT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAatcgacagaggtAGATCGAGACCCGACGC chr11:17737507-Reference-T;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Reference T atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat AGGTAATGCGCG CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaTagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAaggtaatgcgcgAGATCGAGACCCGACGC chr11:17737507-Reference-T;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative G atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat ATTCCAACGTTC CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAattccaacgttcAGATCGAGACCCGACGC chr11:17737507-Alternative-G;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative G atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GAGTACGGCCTT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaGagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgagtacggccttAGATCGAGACCCGACGC chr11:17737507-Alternative-G;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative A atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GTGATGATAACG CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgtgatgataacgAGATCGAGACCCGACGC chr11:17737507-Alternative-A;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Variant C atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GATGTCCGACGT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgatgtccgacgtAGATCGAGACCCGACGC chr11:17737507-Variant-C;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative A atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat AGTCCGAAGGCA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAagtccgaaggcaAGATCGAGACCCGACGC chr11:17737507-Alternative-A;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Variant C atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GTCGCCGTAACA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgtcgccgtaacaAGATCGAGACCCGACGC chr11:17737507-Variant-C;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative A atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat CTGCTGCGACTT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAActgctgcgacttAGATCGAGACCCGACGC chr11:17737507-Alternative-A;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Alternative A atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat AAGATGACGCTT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaAagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAaagatgacgcttAGATCGAGACCCGACGC chr11:17737507-Alternative-A;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Variant C atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat AGATCGGCGGAT CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAagatcggcggatAGATCGAGACCCGACGC chr11:17737507-Variant-C;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Variant C atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GGATCTGGATGG CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAggatctggatggAGATCGAGACCCGACGC chr11:17737507-Variant-C;Patient-30 chr11:17737507-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA MYOD1 3602 Variant C atgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaat GTTAACGCAGAA CGACGCGGTCTCTCTCTatgccccaggcagatggggtctgagcctttcctgggaagagcaagtgtaaCagaacatggatgtctaatcatgtatgtgacttcccagttttgaagaaatAGAGGGAGACGGACGTCTCAATAAgttaacgcagaaAGATCGAGACCCGACGC chr11:17737507-Variant-C;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative C tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ACTATGTTCGCT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAactatgttcgctAGATCGAGACCCGACGC chr11:18094960-Alternative-C;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Variant A tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ACGACTTCAGCG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAacgacttcagcgAGATCGAGACCCGACGC chr11:18094960-Variant-A;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Variant A tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GCGAAGACGCTA CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgcgaagacgctaAGATCGAGACCCGACGC chr11:18094960-Variant-A;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Variant A tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GTCGTGCTTAGG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgtcgtgcttaggAGATCGAGACCCGACGC chr11:18094960-Variant-A;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Variant A tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt CAACGACGTTCG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAcaacgacgttcgAGATCGAGACCCGACGC chr11:18094960-Variant-A;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Variant A tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt CAATAGACGAAC CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaAaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAcaatagacgaacAGATCGAGACCCGACGC chr11:18094960-Variant-A;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative T tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt AGATAGTGCATC CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAagatagtgcatcAGATCGAGACCCGACGC chr11:18094960-Alternative-T;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative T tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ATCGTACTAACC CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAatcgtactaaccAGATCGAGACCCGACGC chr11:18094960-Alternative-T;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative T tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ACTCGCATAACA CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAactcgcataacaAGATCGAGACCCGACGC chr11:18094960-Alternative-T;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative T tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt CTTGAACGGTCT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAActtgaacggtctAGATCGAGACCCGACGC chr11:18094960-Alternative-T;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative T tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GCCTTAATCAAG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaTaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgccttaatcaagAGATCGAGACCCGACGC chr11:18094960-Alternative-T;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Reference G tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GTGCCGGTTCTA CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgtgccggttctaAGATCGAGACCCGACGC chr11:18094960-Reference-G;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Reference G tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt CAGCAAGTGACT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAcagcaagtgactAGATCGAGACCCGACGC chr11:18094960-Reference-G;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Reference G tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ACCTTGATAGCA CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAaccttgatagcaAGATCGAGACCCGACGC chr11:18094960-Reference-G;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Reference G tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GTCATCAACGAT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgtcatcaacgatAGATCGAGACCCGACGC chr11:18094960-Reference-G;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Reference G tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt CTGCTCGCACTA CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaGaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAActgctcgcactaAGATCGAGACCCGACGC chr11:18094960-Reference-G;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative C tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt ATCAAGCGTGCG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAatcaagcgtgcgAGATCGAGACCCGACGC chr11:18094960-Alternative-C;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative C tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt AACGGCTAAGCG CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAaacggctaagcgAGATCGAGACCCGACGC chr11:18094960-Alternative-C;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative C tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GATCGCAACAAT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgatcgcaacaatAGATCGAGACCCGACGC chr11:18094960-Alternative-C;Patient-30 chr11:18094960-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA TPH1 32624 Alternative C tgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaacttt GACTGCGCGAAT CGACGCGGTCTCTCTCTtgtggtttagatctcaaggacacacaagaaatcaatcagttggctcttcaCaaccttatatcatggatggtttgtgtctcatccagaattggggaactttAGAGGGAGACGGACGTCTCAATAAgactgcgcgaatAGATCGAGACCCGACGC chr11:18094960-Alternative-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Variant A accaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GAGTAGTCGCCT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgagtagtcgcctAGATCGAGACCCGACGC chr11:18296294-Variant-A;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Variant A accaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CGCATGCCATGA CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAcgcatgccatgaAGATCGAGACCCGACGC chr11:18296294-Variant-A;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Reference C accaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GACTGGTGTCGT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgactggtgtcgtAGATCGAGACCCGACGC chr11:18296294-Reference-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Reference C accaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CATAAGGACGAT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAcataaggacgatAGATCGAGACCCGACGC chr11:18296294-Reference-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Reference C accaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GTACTCTCGACC CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgtactctcgaccAGATCGAGACCCGACGC chr11:18296294-Reference-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Reference C accaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc AATAGTACGTCC CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAaatagtacgtccAGATCGAGACCCGACGC chr11:18296294-Reference-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Reference C accaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CAATTAACCAGG CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacCcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAcaattaaccaggAGATCGAGACCCGACGC chr11:18296294-Reference-C;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Variant A accaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CGTCGTTCTCCT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAcgtcgttctcctAGATCGAGACCCGACGC chr11:18296294-Variant-A;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Variant A accaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GCGAGTCACCAT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgcgagtcaccatAGATCGAGACCCGACGC chr11:18296294-Variant-A;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative T accaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GGCGCAACTCTT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAggcgcaactcttAGATCGAGACCCGACGC chr11:18296294-Alternative-T;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative T accaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CTATATTCGACC CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAActatattcgaccAGATCGAGACCCGACGC chr11:18296294-Alternative-T;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative T accaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc ACCGAGGCATGA CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAaccgaggcatgaAGATCGAGACCCGACGC chr11:18296294-Alternative-T;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Variant A accaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc ACCTCAAGCGGT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacAcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAacctcaagcggtAGATCGAGACCCGACGC chr11:18296294-Variant-A;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative T accaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GTGTCACTTGTT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgtgtcacttgttAGATCGAGACCCGACGC chr11:18296294-Alternative-T;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative G accaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc CGCGAGAGATAT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAcgcgagagatatAGATCGAGACCCGACGC chr11:18296294-Alternative-G;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative G accaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GTACGTCAACGT CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgtacgtcaacgtAGATCGAGACCCGACGC chr11:18296294-Alternative-G;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative G accaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GGATAATTGTGG CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAggataattgtggAGATCGAGACCCGACGC chr11:18296294-Alternative-G;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative T accaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc AGCCGAAGATGG CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacTcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAagccgaagatggAGATCGAGACCCGACGC chr11:18296294-Alternative-T;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative G accaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GTTGATGAACAG CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgttgatgaacagAGATCGAGACCCGACGC chr11:18296294-Alternative-G;Patient-30 chr11:18296294-CA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GTF2H1 47521 Alternative G accaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctc GTTGGACTTCAA CGACGCGGTCTCTCTCTaccaattgtatttttttttttttttttgagacagactctcactctgtcacGcaggctgtagtgccgtggtgcgatctcagctcactgcaacctctgcctcAGAGGGAGACGGACGTCTCAATAAgttggacttcaaAGATCGAGACCCGACGC chr11:18296294-Alternative-G;Patient-30 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Reference A ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CGTTAAGACAAG CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcgttaagacaagAGATCGAGACCCGACGC chr11:19039580-Reference-A;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Reference A ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca ACCAATTCACGA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAaccaattcacgaAGATCGAGACCCGACGC chr11:19039580-Reference-A;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Variant G ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CAACGATAAGCA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcaacgataagcaAGATCGAGACCCGACGC chr11:19039580-Variant-G;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Variant G ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CGTTGATCGCGT CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcgttgatcgcgtAGATCGAGACCCGACGC chr11:19039580-Variant-G;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative T ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca AAGTGACGCATA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAaagtgacgcataAGATCGAGACCCGACGC chr11:19039580-Alternative-T;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Variant G ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca ACTGGTAACGCG CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAactggtaacgcgAGATCGAGACCCGACGC chr11:19039580-Variant-G;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative T ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CGCGTCATTGAG CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcgcgtcattgagAGATCGAGACCCGACGC chr11:19039580-Alternative-T;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative C ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GTTAGGCTTCGC CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgttaggcttcgcAGATCGAGACCCGACGC chr11:19039580-Alternative-C;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Reference A ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GTAGTAACTACC CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgtagtaactaccAGATCGAGACCCGACGC chr11:19039580-Reference-A;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Variant G ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CAACATCGGATA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcaacatcggataAGATCGAGACCCGACGC chr11:19039580-Variant-G;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Reference A ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GGACTCAGTATC CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAggactcagtatcAGATCGAGACCCGACGC chr11:19039580-Reference-A;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative C ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CTAAGGCACGCT CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAActaaggcacgctAGATCGAGACCCGACGC chr11:19039580-Alternative-C;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative T ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GTCAACGTCGCA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgtcaacgtcgcaAGATCGAGACCCGACGC chr11:19039580-Alternative-T;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative T ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CGTGAACCTGGT CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcgtgaacctggtAGATCGAGACCCGACGC chr11:19039580-Alternative-T;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative T ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GCGATTCGCGTT CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaTctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgcgattcgcgttAGATCGAGACCCGACGC chr11:19039580-Alternative-T;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Variant G ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GCGTACCACATC CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaGctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgcgtaccacatcAGATCGAGACCCGACGC chr11:19039580-Variant-G;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Reference A ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GTATACCATCGG CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaActctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgtataccatcggAGATCGAGACCCGACGC chr11:19039580-Reference-A;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative C ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca CGTCCTGGTAAG CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAcgtcctggtaagAGATCGAGACCCGACGC chr11:19039580-Alternative-C;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative C ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca ACCTAACCGATA CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAacctaaccgataAGATCGAGACCCGACGC chr11:19039580-Alternative-C;Patient-22 chr11:19039580-AG Inherited Patient-22 intergenic NA 0.000512821 0.02 2.87 0.55 ZDHHC13 99111 Alternative C ctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagcca GACGCATGTCAC CGACGCGGTCTCTCTCTctgccagagatttagagagtgaggtggcaccacagggtaacttctctacaCctctgaaaccaggtaagccaggtcctgggaccccttcacctggtagccaAGAGGGAGACGGACGTCTCAATAAgacgcatgtcacAGATCGAGACCCGACGC chr11:19039580-Alternative-C;Patient-22 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Reference C cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GGAATGCGGAGA CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAggaatgcggagaAGATCGAGACCCGACGC chr11:19110726-Reference-C;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Reference C cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GTTATAGCCGGT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgttatagccggtAGATCGAGACCCGACGC chr11:19110726-Reference-C;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Variant A cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GTTCGCGTTCCT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgttcgcgttcctAGATCGAGACCCGACGC chr11:19110726-Variant-A;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative G cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CGATCGATGACA CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAcgatcgatgacaAGATCGAGACCCGACGC chr11:19110726-Alternative-G;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative T cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CAGTCGTACGGT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAcagtcgtacggtAGATCGAGACCCGACGC chr11:19110726-Alternative-T;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative T cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GTACGCGTCTTC CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgtacgcgtcttcAGATCGAGACCCGACGC chr11:19110726-Alternative-T;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Variant A cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CATTCTTGGCCG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAcattcttggccgAGATCGAGACCCGACGC chr11:19110726-Variant-A;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Reference C cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga AACACAGCGACG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAaacacagcgacgAGATCGAGACCCGACGC chr11:19110726-Reference-C;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative T cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GTGGCTTGGTCA CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgtggcttggtcaAGATCGAGACCCGACGC chr11:19110726-Alternative-T;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative T cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CTCGTTACGGAG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAActcgttacggagAGATCGAGACCCGACGC chr11:19110726-Alternative-T;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative T cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CTAGCGCTCATA CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatTcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAActagcgctcataAGATCGAGACCCGACGC chr11:19110726-Alternative-T;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative G cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga ACGACGTCTAAT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAacgacgtctaatAGATCGAGACCCGACGC chr11:19110726-Alternative-G;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative G cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GAATATCGTCCA CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgaatatcgtccaAGATCGAGACCCGACGC chr11:19110726-Alternative-G;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative G cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GACGCCGTTAGT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgacgccgttagtAGATCGAGACCCGACGC chr11:19110726-Alternative-G;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Variant A cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CTTGTCAAGTCT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAActtgtcaagtctAGATCGAGACCCGACGC chr11:19110726-Variant-A;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Variant A cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CGTGTAATGACG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAcgtgtaatgacgAGATCGAGACCCGACGC chr11:19110726-Variant-A;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Reference C cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GTACGTCCTTCG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgtacgtccttcgAGATCGAGACCCGACGC chr11:19110726-Reference-C;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Reference C cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GCGCGATACATT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatCcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgcgcgatacattAGATCGAGACCCGACGC chr11:19110726-Reference-C;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Alternative G cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga CATCACGTATGT CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatGcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAcatcacgtatgtAGATCGAGACCCGACGC chr11:19110726-Alternative-G;Patient-28 chr11:19110726-CA DeNovo Patient-28 intergenic NA 0.000513 -0.09 1.52 -1.52 ZDHHC13 27965 Variant A cctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctga GCGACATAATCG CGACGCGGTCTCTCTCTcctataggacagtccaggctccaaagctagtgttccaatatggtttcaatAcacctttgcagcattttctctcaatgctcgcatatagtctcttctctgaAGAGGGAGACGGACGTCTCAATAAgcgacataatcgAGATCGAGACCCGACGC chr11:19110726-Variant-A;Patient-28 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative G ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CAACCTTGAAGG CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcaaccttgaaggAGATCGAGACCCGACGC chr11:19193864-Alternative-G;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative G ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CGATCCATACGC CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcgatccatacgcAGATCGAGACCCGACGC chr11:19193864-Alternative-G;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative G ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CGGAGTGGATGA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcggagtggatgaAGATCGAGACCCGACGC chr11:19193864-Alternative-G;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative G ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GCGCGTCGATAA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgcgcgtcgataaAGATCGAGACCCGACGC chr11:19193864-Alternative-G;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Reference C ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc AGTTCCGTAGCG CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAagttccgtagcgAGATCGAGACCCGACGC chr11:19193864-Reference-C;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Reference C ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CTGCGAACACAC CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAActgcgaacacacAGATCGAGACCCGACGC chr11:19193864-Reference-C;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Reference C ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GTACTAAGACGA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgtactaagacgaAGATCGAGACCCGACGC chr11:19193864-Reference-C;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Reference C ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CTTAGTCTTCGA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAActtagtcttcgaAGATCGAGACCCGACGC chr11:19193864-Reference-C;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Reference C ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GACTGTGTCGAC CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccCgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgactgtgtcgacAGATCGAGACCCGACGC chr11:19193864-Reference-C;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative A ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc AAGTTCGTTCCT CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAaagttcgttcctAGATCGAGACCCGACGC chr11:19193864-Alternative-A;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative A ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CGAGAAGCGGAT CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcgagaagcggatAGATCGAGACCCGACGC chr11:19193864-Alternative-A;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative A ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GATCGAGGCGAA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgatcgaggcgaaAGATCGAGACCCGACGC chr11:19193864-Alternative-A;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative A ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GTGACGGAATTA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgtgacggaattaAGATCGAGACCCGACGC chr11:19193864-Alternative-A;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative A ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CAGTAGCTAACA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccAgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcagtagctaacaAGATCGAGACCCGACGC chr11:19193864-Alternative-A;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Variant T ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc AAGTGATCAGCA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAaagtgatcagcaAGATCGAGACCCGACGC chr11:19193864-Variant-T;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Variant T ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GGTAGCGATAAG CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAggtagcgataagAGATCGAGACCCGACGC chr11:19193864-Variant-T;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Alternative G ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc AACTAGTCGGAT CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccGgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAaactagtcggatAGATCGAGACCCGACGC chr11:19193864-Alternative-G;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Variant T ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GCGGAATCAATC CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgcggaatcaatcAGATCGAGACCCGACGC chr11:19193864-Variant-T;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Variant T ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc GAGCATTGTCTA CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAgagcattgtctaAGATCGAGACCCGACGC chr11:19193864-Variant-T;Patient-30 chr11:19193864-CT Inherited Patient-30 intronic ZDHHC13 3.2e-05 9.9e-05 NA NA NA ZDHHC13 55171 Variant T ttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgccc CATGCGCATATT CGACGCGGTCTCTCTCTttcaccacgttggccaggctgctctcgaactcctgacctcgtgatccaccTgcctcggcctgccaaagtgctgggattacaggcgtgagccaccgtgcccAGAGGGAGACGGACGTCTCAATAAcatgcgcatattAGATCGAGACCCGACGC chr11:19193864-Variant-T;Patient-30 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative A tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg AGTATCACGACG CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAagtatcacgacgAGATCGAGACCCGACGC chr11:1964009-Alternative-A;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative A tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg CTACACGTCGCT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAActacacgtcgctAGATCGAGACCCGACGC chr11:1964009-Alternative-A;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Reference C tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg CAGATAGCGCCT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAcagatagcgcctAGATCGAGACCCGACGC chr11:1964009-Reference-C;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Variant T tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg CTAACTGTCTAC CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAActaactgtctacAGATCGAGACCCGACGC chr11:1964009-Variant-T;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Reference C tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GTGTTATAGCGT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgtgttatagcgtAGATCGAGACCCGACGC chr11:1964009-Reference-C;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative A tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GGTACACGACAT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAggtacacgacatAGATCGAGACCCGACGC chr11:1964009-Alternative-A;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Variant T tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg CGTTGAGTCACG CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAcgttgagtcacgAGATCGAGACCCGACGC chr11:1964009-Variant-T;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Variant T tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg ATTATAGCGGAC CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAattatagcggacAGATCGAGACCCGACGC chr11:1964009-Variant-T;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Variant T tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GACTAGATCTGG CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgactagatctggAGATCGAGACCCGACGC chr11:1964009-Variant-T;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Variant T tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg ACGCTCTGACGA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaTgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAacgctctgacgaAGATCGAGACCCGACGC chr11:1964009-Variant-T;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative G tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg ATCTCAGCTAGA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAatctcagctagaAGATCGAGACCCGACGC chr11:1964009-Alternative-G;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Reference C tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg AGAAGAGCCTTA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAagaagagccttaAGATCGAGACCCGACGC chr11:1964009-Reference-C;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative A tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GGCTGTATCGCA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAggctgtatcgcaAGATCGAGACCCGACGC chr11:1964009-Alternative-A;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Reference C tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg CGGATCATACGG CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAcggatcatacggAGATCGAGACCCGACGC chr11:1964009-Reference-C;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Reference C tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GGACAGCACGAA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaCgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAggacagcacgaaAGATCGAGACCCGACGC chr11:1964009-Reference-C;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative A tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GCGCATATTCTA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaAgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgcgcatattctaAGATCGAGACCCGACGC chr11:1964009-Alternative-A;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative G tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GATCCTCACGCT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgatcctcacgctAGATCGAGACCCGACGC chr11:1964009-Alternative-G;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative G tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GCACGATGGCTT CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgcacgatggcttAGATCGAGACCCGACGC chr11:1964009-Alternative-G;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative G tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg AGCACGAATCAA CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAagcacgaatcaaAGATCGAGACCCGACGC chr11:1964009-Alternative-G;Patient-32 chr11:1964009-CT DeNovo Patient-32 intergenic 0.000287 0.000513 0.49 9.25 0.12 TNNT3 23209 Alternative G tacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctg GCGCAACCTAAG CGACGCGGTCTCTCTCTtacacagggtctgaggatgctggacgcaggcaaggagggtttgtggtccaGgctgtggcctgcaggatgggcaagggctggcaacaacccttctgagctgAGAGGGAGACGGACGTCTCAATAAgcgcaacctaagAGATCGAGACCCGACGC chr11:1964009-Alternative-G;Patient-32 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative T gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GAGATATTGGAC CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAgagatattggacAGATCGAGACCCGACGC chr11:20523116-Alternative-T;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative G gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa AGTCAACGTGCA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAagtcaacgtgcaAGATCGAGACCCGACGC chr11:20523116-Alternative-G;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative G gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa CTACACCAAGAT CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAActacaccaagatAGATCGAGACCCGACGC chr11:20523116-Alternative-G;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative G gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GGTATCACCAAG CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAggtatcaccaagAGATCGAGACCCGACGC chr11:20523116-Alternative-G;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative G gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa ACTCTATCTGCG CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAactctatctgcgAGATCGAGACCCGACGC chr11:20523116-Alternative-G;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative T gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa CTTAAGTACGGT CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAActtaagtacggtAGATCGAGACCCGACGC chr11:20523116-Alternative-T;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Variant C gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa AGATACGGTCGC CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAagatacggtcgcAGATCGAGACCCGACGC chr11:20523116-Variant-C;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative T gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GGTGACGAGTCA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAggtgacgagtcaAGATCGAGACCCGACGC chr11:20523116-Alternative-T;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Reference A gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa CAGTAACAACGA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAcagtaacaacgaAGATCGAGACCCGACGC chr11:20523116-Reference-A;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Variant C gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GGACAGTAACTA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAggacagtaactaAGATCGAGACCCGACGC chr11:20523116-Variant-C;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Reference A gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GACAAGGTGCGT CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAgacaaggtgcgtAGATCGAGACCCGACGC chr11:20523116-Reference-A;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Variant C gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa AGATAATACGGC CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAagataatacggcAGATCGAGACCCGACGC chr11:20523116-Variant-C;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Variant C gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa AGGAGTTCCAAC CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAaggagttccaacAGATCGAGACCCGACGC chr11:20523116-Variant-C;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative G gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa ACTCAAGGTAAG CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactGtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAactcaaggtaagAGATCGAGACCCGACGC chr11:20523116-Alternative-G;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Variant C gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa CGAGTAGTGGCA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactCtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAcgagtagtggcaAGATCGAGACCCGACGC chr11:20523116-Variant-C;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative T gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa ATCGCACTTGAT CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAatcgcacttgatAGATCGAGACCCGACGC chr11:20523116-Alternative-T;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Alternative T gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa CGTCAGATCCAA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactTtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAcgtcagatccaaAGATCGAGACCCGACGC chr11:20523116-Alternative-T;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Reference A gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GCAAGTTCGCAC CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAgcaagttcgcacAGATCGAGACCCGACGC chr11:20523116-Reference-A;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Reference A gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa GCAGTGCAACGA CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAgcagtgcaacgaAGATCGAGACCCGACGC chr11:20523116-Reference-A;Patient-35 chr11:20523116-AC DeNovo Patient-35 intronic PRMT3 NA 4.95e-05 -0.41 0.16 -5.08 SLC6A5 97829 Reference A gttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaa ACATAGATTGCG CGACGCGGTCTCTCTCTgttctctatagttatattgaaactaaaagtagcttttgacccaatgtactAtaagatttttagataaaaataaatgaagctatgagtctagtttggaaaaAGAGGGAGACGGACGTCTCAATAAacatagattgcgAGATCGAGACCCGACGC chr11:20523116-Reference-A;Patient-35 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative T cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagatagg CGTGTGCGCAAT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAcgtgtgcgcaatAGATCGAGACCCGACGC chr11:22593430-Alternative-T;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative T cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagatagg ATACGGTTGACT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAatacggttgactAGATCGAGACCCGACGC chr11:22593430-Alternative-T;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Variant A cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagatagg CAAGGTAGCTAA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAcaaggtagctaaAGATCGAGACCCGACGC chr11:22593430-Variant-A;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Variant A cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagatagg CGATTATACGCA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAcgattatacgcaAGATCGAGACCCGACGC chr11:22593430-Variant-A;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Variant A cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagatagg ACTGTGCTCTAT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAactgtgctctatAGATCGAGACCCGACGC chr11:22593430-Variant-A;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative T cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagatagg GGTACATGTTGT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAggtacatgttgtAGATCGAGACCCGACGC chr11:22593430-Alternative-T;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative T cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagatagg GATTAGCGGTAA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAgattagcggtaaAGATCGAGACCCGACGC chr11:22593430-Alternative-T;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Reference C cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagatagg GTCGTGCGCAAT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAgtcgtgcgcaatAGATCGAGACCCGACGC chr11:22593430-Reference-C;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Reference C cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagatagg ACACGCGTAATA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAacacgcgtaataAGATCGAGACCCGACGC chr11:22593430-Reference-C;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Variant A cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagatagg ACAGCATCTAAG CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAacagcatctaagAGATCGAGACCCGACGC chr11:22593430-Variant-A;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Reference C cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagatagg CTCATGATGCCG CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAActcatgatgccgAGATCGAGACCCGACGC chr11:22593430-Reference-C;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Reference C cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagatagg ATATACTGACCG CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAatatactgaccgAGATCGAGACCCGACGC chr11:22593430-Reference-C;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative T cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagatagg GTTGTGCACCGA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaTcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAgttgtgcaccgaAGATCGAGACCCGACGC chr11:22593430-Alternative-T;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative G cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagatagg AGATCACCAAGT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAagatcaccaagtAGATCGAGACCCGACGC chr11:22593430-Alternative-G;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative G cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagatagg ATTACGGAGCAA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAattacggagcaaAGATCGAGACCCGACGC chr11:22593430-Alternative-G;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Reference C cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagatagg GCATCCGTCTAC CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaCcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAgcatccgtctacAGATCGAGACCCGACGC chr11:22593430-Reference-C;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative G cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagatagg ACACGGCAGCAA CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAacacggcagcaaAGATCGAGACCCGACGC chr11:22593430-Alternative-G;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Variant A cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagatagg CAATAGCGTACT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaAcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAcaatagcgtactAGATCGAGACCCGACGC chr11:22593430-Variant-A;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative G cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagatagg GCGAAGTGAATT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAgcgaagtgaattAGATCGAGACCCGACGC chr11:22593430-Alternative-G;Patient-54 chr11:22593430-CA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 0.15 FANCF 53956 Alternative G cattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagatagg CACACAACCAAT CGACGCGGTCTCTCTCTcattctcctgcctcagcctcctgcatagctgggactacaggcgcccaccaGcatgcctggctaattttttttttttttttgtatttttagtagagataggAGAGGGAGACGGACGTCTCAATAAcacacaaccaatAGATCGAGACCCGACGC chr11:22593430-Alternative-G;Patient-54 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative T catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg ATCCGACTACGG CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAatccgactacggAGATCGAGACCCGACGC chr11:2488523-Alternative-T;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative A catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg ACCGGATATGAA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAaccggatatgaaAGATCGAGACCCGACGC chr11:2488523-Alternative-A;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative A catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GTCGCACACAAT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgtcgcacacaatAGATCGAGACCCGACGC chr11:2488523-Alternative-A;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Variant G catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GTAAGTTCATGC CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgtaagttcatgcAGATCGAGACCCGACGC chr11:2488523-Variant-G;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Reference C catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GTTCCTAGTAAG CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgttcctagtaagAGATCGAGACCCGACGC chr11:2488523-Reference-C;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative T catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GGTGACTTACTA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAggtgacttactaAGATCGAGACCCGACGC chr11:2488523-Alternative-T;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Reference C catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CATCTTCTGGAT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAcatcttctggatAGATCGAGACCCGACGC chr11:2488523-Reference-C;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Reference C catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GCCTTAGCGCAT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgccttagcgcatAGATCGAGACCCGACGC chr11:2488523-Reference-C;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative T catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GCGATGCGTACT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgcgatgcgtactAGATCGAGACCCGACGC chr11:2488523-Alternative-T;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative A catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CGCTCGATTATT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAcgctcgattattAGATCGAGACCCGACGC chr11:2488523-Alternative-A;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Variant G catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg AAGTACACCTAC CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAaagtacacctacAGATCGAGACCCGACGC chr11:2488523-Variant-G;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative T catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GAGATGTTGCTT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgagatgttgcttAGATCGAGACCCGACGC chr11:2488523-Alternative-T;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Variant G catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CGACAACGGTAT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAcgacaacggtatAGATCGAGACCCGACGC chr11:2488523-Variant-G;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative A catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CTTACTGACCGC CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAActtactgaccgcAGATCGAGACCCGACGC chr11:2488523-Alternative-A;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Reference C catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GACGCCGTGTTA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAgacgccgtgttaAGATCGAGACCCGACGC chr11:2488523-Reference-C;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative T catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CTACACGCTATA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggTagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAActacacgctataAGATCGAGACCCGACGC chr11:2488523-Alternative-T;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Alternative A catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CGCCATCATCCT CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggAagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAcgccatcatcctAGATCGAGACCCGACGC chr11:2488523-Alternative-A;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Variant G catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg GGCGAGTAATTA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAggcgagtaattaAGATCGAGACCCGACGC chr11:2488523-Variant-G;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Variant G catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CTAGCTTAACAG CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggGagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAActagcttaacagAGATCGAGACCCGACGC chr11:2488523-Variant-G;Patient-110 chr11:2488523-CG Inherited Patient-110 intronic KCNQ1 NA 3.98e-05 -0.46 0.12 -2.66 KCNQ1 22301 Reference C catggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcg CGGACTATGATA CGACGCGGTCTCTCTCTcatggggtgggctgagccatgagcgcccttcgtggcaccttggtgtccggCagggaggcaggggcccaggaggagggcaggactggcttcaacggtgtcgAGAGGGAGACGGACGTCTCAATAAcggactatgataAGATCGAGACCCGACGC chr11:2488523-Reference-C;Patient-110 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative C gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GCGATTGACCAC CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgcgattgaccacAGATCGAGACCCGACGC chr11:249591-Alternative-C;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Variant A gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg AGCAGCTTGTCG CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAagcagcttgtcgAGATCGAGACCCGACGC chr11:249591-Variant-A;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative C gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GTACCAGATACG CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgtaccagatacgAGATCGAGACCCGACGC chr11:249591-Alternative-C;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Variant A gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg ACGGTGTTAGTT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAacggtgttagttAGATCGAGACCCGACGC chr11:249591-Variant-A;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Variant A gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GGAATTCTCGCG CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAggaattctcgcgAGATCGAGACCCGACGC chr11:249591-Variant-A;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative C gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg CGTGTGATATAC CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAcgtgtgatatacAGATCGAGACCCGACGC chr11:249591-Alternative-C;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative C gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg CGGATCGTACCT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAcggatcgtacctAGATCGAGACCCGACGC chr11:249591-Alternative-C;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative T gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GTCAATTGCTGA CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgtcaattgctgaAGATCGAGACCCGACGC chr11:249591-Alternative-T;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Reference G gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GGTCGTGTAGCT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAggtcgtgtagctAGATCGAGACCCGACGC chr11:249591-Reference-G;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative C gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg ACTCGCGGCTTA CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcCgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAactcgcggcttaAGATCGAGACCCGACGC chr11:249591-Alternative-C;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Reference G gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg AACTCCTCTTGA CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAaactcctcttgaAGATCGAGACCCGACGC chr11:249591-Reference-G;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Variant A gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg ATAGGAGTCGCG CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAataggagtcgcgAGATCGAGACCCGACGC chr11:249591-Variant-A;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative T gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg AATGATGCCGTT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAaatgatgccgttAGATCGAGACCCGACGC chr11:249591-Alternative-T;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Variant A gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GGTGGCGTTGAT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcAgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAggtggcgttgatAGATCGAGACCCGACGC chr11:249591-Variant-A;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Reference G gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GACCATATACGT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgaccatatacgtAGATCGAGACCCGACGC chr11:249591-Reference-G;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Reference G gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg CACGTCAGACAC CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAcacgtcagacacAGATCGAGACCCGACGC chr11:249591-Reference-G;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative T gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg ACGTCAGAAGAT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAacgtcagaagatAGATCGAGACCCGACGC chr11:249591-Alternative-T;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative T gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg AGGTGATCAGGT CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAaggtgatcaggtAGATCGAGACCCGACGC chr11:249591-Alternative-T;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Reference G gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GATAACGTATGG CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcGgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgataacgtatggAGATCGAGACCCGACGC chr11:249591-Reference-G;Patient-39 chr11:249591-GA DeNovo Patient-39 intronic PSMD13 0.000168 0.00163 -0.42 0.16 -1.56 PSMD13 12782 Alternative T gcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcaggg GATGTGCTCGCA CGACGCGGTCTCTCTCTgcagggagggggagagcggcgggtgcggggagggggagagcggcgggtgcTgggagggggagagcggcgggtgcggggagagggagaggtccatgcagggAGAGGGAGACGGACGTCTCAATAAgatgtgctcgcaAGATCGAGACCCGACGC chr11:249591-Alternative-T;Patient-39 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Reference A tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GCGAACTAATCA CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAgcgaactaatcaAGATCGAGACCCGACGC chr11:27052446-Reference-A;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative G tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg ACTCGTAGGTCG CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAactcgtaggtcgAGATCGAGACCCGACGC chr11:27052446-Alternative-G;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Reference A tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GTGACGGTACAG CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAgtgacggtacagAGATCGAGACCCGACGC chr11:27052446-Reference-A;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative C tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg ACTTAGCTTGTC CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAacttagcttgtcAGATCGAGACCCGACGC chr11:27052446-Alternative-C;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Reference A tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg CAGCAGTGCATT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAcagcagtgcattAGATCGAGACCCGACGC chr11:27052446-Reference-A;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative G tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg ACTTCCATCCGC CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAacttccatccgcAGATCGAGACCCGACGC chr11:27052446-Alternative-G;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative G tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg CGGCTTATTCAT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAcggcttattcatAGATCGAGACCCGACGC chr11:27052446-Alternative-G;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Variant T tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GGAACTAAGGTT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAggaactaaggttAGATCGAGACCCGACGC chr11:27052446-Variant-T;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Variant T tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GGTTGACCTGCA CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAggttgacctgcaAGATCGAGACCCGACGC chr11:27052446-Variant-T;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Reference A tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GTGTAATGCGAT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAgtgtaatgcgatAGATCGAGACCCGACGC chr11:27052446-Reference-A;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Reference A tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg ACTAGATCCGAC CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgAaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAactagatccgacAGATCGAGACCCGACGC chr11:27052446-Reference-A;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative G tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GGTATCCGCTTA CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAggtatccgcttaAGATCGAGACCCGACGC chr11:27052446-Alternative-G;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative C tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GGAACGTTCATT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAggaacgttcattAGATCGAGACCCGACGC chr11:27052446-Alternative-C;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Variant T tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg AGTCGATAGCTT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAagtcgatagcttAGATCGAGACCCGACGC chr11:27052446-Variant-T;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative C tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg CGTTGGTGACGT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAcgttggtgacgtAGATCGAGACCCGACGC chr11:27052446-Alternative-C;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative C tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg AAGGCCGTCTTC CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAaaggccgtcttcAGATCGAGACCCGACGC chr11:27052446-Alternative-C;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative G tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg GCGCATGATAAT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgGaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAgcgcatgataatAGATCGAGACCCGACGC chr11:27052446-Alternative-G;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Alternative C tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg CACTAGACAAGT CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgCaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAcactagacaagtAGATCGAGACCCGACGC chr11:27052446-Alternative-C;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Variant T tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg CACGTGATCCGA CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAcacgtgatccgaAGATCGAGACCCGACGC chr11:27052446-Variant-T;Patient-35 chr11:27052446-AT DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.45 -2.09 BBOX1 10062 Variant T tcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtgg ATCTTGGCGCAC CGACGCGGTCTCTCTCTtcacaaaataattgtcattggaaggactcagagcagcttcgcattccatgTaaaaaatgttctttctatcttcccagctgaatccttttgcaaattgtggAGAGGGAGACGGACGTCTCAATAAatcttggcgcacAGATCGAGACCCGACGC chr11:27052446-Variant-T;Patient-35 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative C ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataattttttt AATGCCTAGTCA CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAaatgcctagtcaAGATCGAGACCCGACGC chr11:28109415-Alternative-C;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Reference T ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataattttttt ATACAACCTGGT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAatacaacctggtAGATCGAGACCCGACGC chr11:28109415-Reference-T;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Variant G ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataattttttt ATTCTAAGCCGT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAattctaagccgtAGATCGAGACCCGACGC chr11:28109415-Variant-G;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative C ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataattttttt GCATGACACTAT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAgcatgacactatAGATCGAGACCCGACGC chr11:28109415-Alternative-C;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Variant G ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataattttttt AGTACTAGCCGG CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAagtactagccggAGATCGAGACCCGACGC chr11:28109415-Variant-G;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Variant G ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataattttttt ACGTGTAACGCT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAacgtgtaacgctAGATCGAGACCCGACGC chr11:28109415-Variant-G;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative C ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataattttttt ACACCACGGTAT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAacaccacggtatAGATCGAGACCCGACGC chr11:28109415-Alternative-C;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Variant G ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataattttttt ACACGGTGAACG CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAacacggtgaacgAGATCGAGACCCGACGC chr11:28109415-Variant-G;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Reference T ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataattttttt ATAAGTCGGAAC CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAataagtcggaacAGATCGAGACCCGACGC chr11:28109415-Reference-T;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Reference T ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataattttttt CTCGTTCGACAC CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAActcgttcgacacAGATCGAGACCCGACGC chr11:28109415-Reference-T;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative A ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataattttttt ACACAACGCTTA CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAacacaacgcttaAGATCGAGACCCGACGC chr11:28109415-Alternative-A;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Variant G ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataattttttt ACGCCGCTAACT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcGaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAacgccgctaactAGATCGAGACCCGACGC chr11:28109415-Variant-G;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative C ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataattttttt AGCAGCGTATAA CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAagcagcgtataaAGATCGAGACCCGACGC chr11:28109415-Alternative-C;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative A ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataattttttt GGTAGGCTCGTT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAggtaggctcgttAGATCGAGACCCGACGC chr11:28109415-Alternative-A;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative A ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataattttttt AGTAACGGCTAA CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAagtaacggctaaAGATCGAGACCCGACGC chr11:28109415-Alternative-A;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Reference T ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataattttttt GACAAGACATCA CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAgacaagacatcaAGATCGAGACCCGACGC chr11:28109415-Reference-T;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Reference T ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataattttttt AACACTTCCAAG CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcTaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAaacacttccaagAGATCGAGACCCGACGC chr11:28109415-Reference-T;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative A ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataattttttt CAGCTAGCGAGT CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAcagctagcgagtAGATCGAGACCCGACGC chr11:28109415-Alternative-A;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative A ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataattttttt GTAATCGTAACC CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcAaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAgtaatcgtaaccAGATCGAGACCCGACGC chr11:28109415-Alternative-A;Patient-58 chr11:28109415-TG DeNovo Patient-58 intronic KIF18A NA 9.9e-05 0.01 2.73 -0.14 KIF18A 20330 Alternative C ttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataattttttt GAAGATGGTCGG CGACGCGGTCTCTCTCTttgcatttttctaatgactaatgatgagcttttcgaacagtttaacaagcCaaagctttcgagtatggtttaacttaaattgccatattataatttttttAGAGGGAGACGGACGTCTCAATAAgaagatggtcggAGATCGAGACCCGACGC chr11:28109415-Alternative-C;Patient-58 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Reference C ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CGATAACATCCA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcgataacatccaAGATCGAGACCCGACGC chr11:2822814-Reference-C;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative A ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct GAATGCGTAAGA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAgaatgcgtaagaAGATCGAGACCCGACGC chr11:2822814-Alternative-A;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Reference C ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct GTTGGTTACTGA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAgttggttactgaAGATCGAGACCCGACGC chr11:2822814-Reference-C;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Reference C ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct AGCCGGCAAGAT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAagccggcaagatAGATCGAGACCCGACGC chr11:2822814-Reference-C;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Reference C ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct ACGCTCACCTTA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAacgctcaccttaAGATCGAGACCCGACGC chr11:2822814-Reference-C;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative T ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CACAACACGAAG CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcacaacacgaagAGATCGAGACCCGACGC chr11:2822814-Alternative-T;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative A ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct GATGACCTACAT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAgatgacctacatAGATCGAGACCCGACGC chr11:2822814-Alternative-A;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative A ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CAGGTCGAATCG CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcaggtcgaatcgAGATCGAGACCCGACGC chr11:2822814-Alternative-A;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative A ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct AGAACGGTACTA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAagaacggtactaAGATCGAGACCCGACGC chr11:2822814-Alternative-A;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative A ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct AGCACGCTTATA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccAtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAagcacgcttataAGATCGAGACCCGACGC chr11:2822814-Alternative-A;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Variant G ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct ACGAAGCTCTGT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAacgaagctctgtAGATCGAGACCCGACGC chr11:2822814-Variant-G;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Variant G ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CGGAGTGAATTA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcggagtgaattaAGATCGAGACCCGACGC chr11:2822814-Variant-G;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Reference C ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CGATATGTACCT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccCtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcgatatgtacctAGATCGAGACCCGACGC chr11:2822814-Reference-C;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Variant G ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct GGTGTACTGCCA CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAggtgtactgccaAGATCGAGACCCGACGC chr11:2822814-Variant-G;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative T ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct ATCAAGCCGATT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAatcaagccgattAGATCGAGACCCGACGC chr11:2822814-Alternative-T;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Variant G ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct AGGTAGTTGTTC CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAaggtagttgttcAGATCGAGACCCGACGC chr11:2822814-Variant-G;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative T ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct AACCAAGGACGT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAaaccaaggacgtAGATCGAGACCCGACGC chr11:2822814-Alternative-T;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Variant G ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct ACCGGTTCGGTT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccGtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAaccggttcggttAGATCGAGACCCGACGC chr11:2822814-Variant-G;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative T ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct CAATGTTGCGTT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAcaatgttgcgttAGATCGAGACCCGACGC chr11:2822814-Alternative-T;Patient-59 chr11:2822814-CG Inherited Patient-59 intronic KCNQ1 3.2e-05 0.000148 -0.35 0.27 -1.21 CDKN1C 84180 Alternative T ggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtct ACTTCGGCACCT CGACGCGGTCTCTCTCTggtgctgccgccttctcttgcaaagacgtgagtcctatgggaccaaggccTtgccttcacagtctcctttaatatttatcacctcctaaaggcctcgtctAGAGGGAGACGGACGTCTCAATAAacttcggcacctAGATCGAGACCCGACGC chr11:2822814-Alternative-T;Patient-59 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative G gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AACTCGCGTAAG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAaactcgcgtaagAGATCGAGACCCGACGC chr11:29989404-Alternative-G;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative A gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CGTTGGTCTTAT CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAcgttggtcttatAGATCGAGACCCGACGC chr11:29989404-Alternative-A;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative A gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CGAGTCTCGAAG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAcgagtctcgaagAGATCGAGACCCGACGC chr11:29989404-Alternative-A;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative A gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag ATCGCTCGCCTA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAatcgctcgcctaAGATCGAGACCCGACGC chr11:29989404-Alternative-A;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Reference C gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CGCCAGACCTTA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAcgccagaccttaAGATCGAGACCCGACGC chr11:29989404-Reference-C;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative G gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AAGTGCGCAATA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAaagtgcgcaataAGATCGAGACCCGACGC chr11:29989404-Alternative-G;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Reference C gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AGAATGCGCCAC CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAagaatgcgccacAGATCGAGACCCGACGC chr11:29989404-Reference-C;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Variant T gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GGCTGCGATGAA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAggctgcgatgaaAGATCGAGACCCGACGC chr11:29989404-Variant-T;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative A gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AAGCGGATCGCA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAaagcggatcgcaAGATCGAGACCCGACGC chr11:29989404-Alternative-A;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Reference C gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GTGAACGAGTGT CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgtgaacgagtgtAGATCGAGACCCGACGC chr11:29989404-Reference-C;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Reference C gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AGCGTTGGTTAT CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAagcgttggttatAGATCGAGACCCGACGC chr11:29989404-Reference-C;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative A gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CAGGTAGTCAAG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacAcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAcaggtagtcaagAGATCGAGACCCGACGC chr11:29989404-Alternative-A;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Reference C gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GAGCTGAAGTCG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacCcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgagctgaagtcgAGATCGAGACCCGACGC chr11:29989404-Reference-C;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative G gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CAATAGTCGAAG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAcaatagtcgaagAGATCGAGACCCGACGC chr11:29989404-Alternative-G;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Variant T gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag CTTGCGTAGTAT CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAActtgcgtagtatAGATCGAGACCCGACGC chr11:29989404-Variant-T;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative G gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag AGGAAGACTAGA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAaggaagactagaAGATCGAGACCCGACGC chr11:29989404-Alternative-G;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Variant T gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GTGACTCTGACG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgtgactctgacgAGATCGAGACCCGACGC chr11:29989404-Variant-T;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Variant T gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GTAATGCTCACA CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgtaatgctcacaAGATCGAGACCCGACGC chr11:29989404-Variant-T;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Alternative G gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GCGAGATCGCTT CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacGcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgcgagatcgcttAGATCGAGACCCGACGC chr11:29989404-Alternative-G;Patient-87 chr11:29989404-CT Inherited Patient-87 intergenic NA 0.000513 -0.31 0.34 -1.79 KCNA4 49172 Variant T gaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatag GCAATCGGTAGG CGACGCGGTCTCTCTCTgaaagggatccaagtgttagtgggattaaaacttcaaacattgcctaaacTcaaatgatcatcattatagtggtgctgaccagtgataagtatcaaatagAGAGGGAGACGGACGTCTCAATAAgcaatcggtaggAGATCGAGACCCGACGC chr11:29989404-Variant-T;Patient-87 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative C aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AGGCCGTCATGA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAaggccgtcatgaAGATCGAGACCCGACGC chr11:31800653-Alternative-C;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative C aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CTCAACTTAGCG CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAActcaacttagcgAGATCGAGACCCGACGC chr11:31800653-Alternative-C;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative C aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CATAGGTATTCG CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcataggtattcgAGATCGAGACCCGACGC chr11:31800653-Alternative-C;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Reference G aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AGCGCACAGATT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAagcgcacagattAGATCGAGACCCGACGC chr11:31800653-Reference-G;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative C aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AGGTAGTTGCTT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAaggtagttgcttAGATCGAGACCCGACGC chr11:31800653-Alternative-C;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative C aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CACGTTCCAAGA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaCcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcacgttccaagaAGATCGAGACCCGACGC chr11:31800653-Alternative-C;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Reference G aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AACGTGATAGCA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAaacgtgatagcaAGATCGAGACCCGACGC chr11:31800653-Reference-G;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Reference G aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CGTAGCTTATGA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcgtagcttatgaAGATCGAGACCCGACGC chr11:31800653-Reference-G;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Reference G aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt ATCGGCGAACAC CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAatcggcgaacacAGATCGAGACCCGACGC chr11:31800653-Reference-G;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Reference G aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CACTAGATACGG CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaGcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcactagatacggAGATCGAGACCCGACGC chr11:31800653-Reference-G;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative T aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CGTGAGGCTGAT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcgtgaggctgatAGATCGAGACCCGACGC chr11:31800653-Alternative-T;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Variant A aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt GCGCGTGTAACA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAgcgcgtgtaacaAGATCGAGACCCGACGC chr11:31800653-Variant-A;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Variant A aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt GCACGAAGCCTT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAgcacgaagccttAGATCGAGACCCGACGC chr11:31800653-Variant-A;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative T aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt ACGTGACTATCA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAacgtgactatcaAGATCGAGACCCGACGC chr11:31800653-Alternative-T;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative T aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AGGCCATATCTA CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAaggccatatctaAGATCGAGACCCGACGC chr11:31800653-Alternative-T;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative T aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CGTGCTGTGAGT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcgtgctgtgagtAGATCGAGACCCGACGC chr11:31800653-Alternative-T;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Variant A aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt AACTCGCATAGT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAaactcgcatagtAGATCGAGACCCGACGC chr11:31800653-Variant-A;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Variant A aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt ATCGAGGATCGG CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAatcgaggatcggAGATCGAGACCCGACGC chr11:31800653-Variant-A;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Variant A aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt CGTGCGCAAGAT CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaAcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAcgtgcgcaagatAGATCGAGACCCGACGC chr11:31800653-Variant-A;Patient-39 chr11:31800653-GA DeNovo Patient-39 intronic ELP4 9.6e-05 4.95e-05 0.15 5.11 3.01 PAX6 38855 Alternative T aatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggtt GCACGTAGCAAG CGACGCGGTCTCTCTCTaatctattaggagtattctgaaatgttaatgcttatttctgtgatcctgaTcaatacaaattgtgacttttcaggaaatgtcagaaatttttaaaaggttAGAGGGAGACGGACGTCTCAATAAgcacgtagcaagAGATCGAGACCCGACGC chr11:31800653-Alternative-T;Patient-39 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative A tttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GGAACGATGGAG CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAggaacgatggagAGATCGAGACCCGACGC chr11:33021331-Alternative-A;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative A tttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GTCGTGTGTCGA CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgtcgtgtgtcgaAGATCGAGACCCGACGC chr11:33021331-Alternative-A;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative A tttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GCGGTTCACGTT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgcggttcacgttAGATCGAGACCCGACGC chr11:33021331-Alternative-A;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative A tttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GACAACTGCGGT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgacaactgcggtAGATCGAGACCCGACGC chr11:33021331-Alternative-A;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Reference T tttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AGTGTACAAGCA CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAagtgtacaagcaAGATCGAGACCCGACGC chr11:33021331-Reference-T;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative A tttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GCATAACGACGT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtAggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgcataacgacgtAGATCGAGACCCGACGC chr11:33021331-Alternative-A;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative C tttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttg ACGATGTGTTGT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAacgatgtgttgtAGATCGAGACCCGACGC chr11:33021331-Alternative-C;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Reference T tttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttg ACGCTCCATGCT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAacgctccatgctAGATCGAGACCCGACGC chr11:33021331-Reference-T;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Reference T tttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GGATCAAGGTCA CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAggatcaaggtcaAGATCGAGACCCGACGC chr11:33021331-Reference-T;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative C tttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GTGCGGATTGTC CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgtgcggattgtcAGATCGAGACCCGACGC chr11:33021331-Alternative-C;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Reference T tttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AGTACGTTCTTC CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAagtacgttcttcAGATCGAGACCCGACGC chr11:33021331-Reference-T;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Reference T tttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttg ACTGGTCTTCAT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtTggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAactggtcttcatAGATCGAGACCCGACGC chr11:33021331-Reference-T;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Variant G tttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttg GACGATTCGCGT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAgacgattcgcgtAGATCGAGACCCGACGC chr11:33021331-Variant-G;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Variant G tttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttg ACCACGGCTGAT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAaccacggctgatAGATCGAGACCCGACGC chr11:33021331-Variant-G;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative C tttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttg ACAACAAGACCA CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAacaacaagaccaAGATCGAGACCCGACGC chr11:33021331-Alternative-C;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative C tttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AGGAGGTTGATT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAaggaggttgattAGATCGAGACCCGACGC chr11:33021331-Alternative-C;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Variant G tttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttg CGATCTACGGAG CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAcgatctacggagAGATCGAGACCCGACGC chr11:33021331-Variant-G;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Variant G tttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AGCTCAAGGAAC CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAagctcaaggaacAGATCGAGACCCGACGC chr11:33021331-Variant-G;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Variant G tttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AGGACCACGCTT CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtGggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAaggaccacgcttAGATCGAGACCCGACGC chr11:33021331-Variant-G;Patient-57 chr11:33021331-TG DeNovo Patient-57 intergenic NA 0.000513 0.16 5.21 0 DEPDC7 16078 Alternative C tttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttg AAGCAGGTGTTA CGACGCGGTCTCTCTCTtttggccagatatgatattctgggttggaaattcttttctttaagaatgtCggatattggcccctaatctcttttcactgagaggtctgctgttagtttgAGAGGGAGACGGACGTCTCAATAAaagcaggtgttaAGATCGAGACCCGACGC chr11:33021331-Alternative-C;Patient-57 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative G cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg AACGACTAGACA CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAaacgactagacaAGATCGAGACCCGACGC chr11:34115768-Alternative-G;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative G cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GACTAGTCTCTT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgactagtctcttAGATCGAGACCCGACGC chr11:34115768-Alternative-G;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative G cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CTCTAATCGACT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAActctaatcgactAGATCGAGACCCGACGC chr11:34115768-Alternative-G;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Variant T cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GTACGGTATGGT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgtacggtatggtAGATCGAGACCCGACGC chr11:34115768-Variant-T;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Variant T cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CGTAGCAGAATA CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAcgtagcagaataAGATCGAGACCCGACGC chr11:34115768-Variant-T;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Variant T cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg AGCAACGTGAAT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAagcaacgtgaatAGATCGAGACCCGACGC chr11:34115768-Variant-T;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative G cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg ACTCGCGACCTT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAactcgcgaccttAGATCGAGACCCGACGC chr11:34115768-Alternative-G;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative G cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GGTAGACTTGAC CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacGtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAggtagacttgacAGATCGAGACCCGACGC chr11:34115768-Alternative-G;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Variant T cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg ACAATGAGACAC CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAacaatgagacacAGATCGAGACCCGACGC chr11:34115768-Variant-T;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Variant T cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GTATCAAGAACG CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacTtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgtatcaagaacgAGATCGAGACCCGACGC chr11:34115768-Variant-T;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative A cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CTAACTTGACGA CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAActaacttgacgaAGATCGAGACCCGACGC chr11:34115768-Alternative-A;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative A cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GGTTGCGTGGAA CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAggttgcgtggaaAGATCGAGACCCGACGC chr11:34115768-Alternative-A;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative A cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GTGACCGTAGTC CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgtgaccgtagtcAGATCGAGACCCGACGC chr11:34115768-Alternative-A;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative A cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg ATCGGTTCATGT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAatcggttcatgtAGATCGAGACCCGACGC chr11:34115768-Alternative-A;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Alternative A cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CTATACGTTCCT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacAtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAActatacgttcctAGATCGAGACCCGACGC chr11:34115768-Alternative-A;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Reference C cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GCAACCTAAGAT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgcaacctaagatAGATCGAGACCCGACGC chr11:34115768-Reference-C;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Reference C cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg AGAATCAAGCGT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAagaatcaagcgtAGATCGAGACCCGACGC chr11:34115768-Reference-C;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Reference C cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg GCGACGTTAAGG CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAgcgacgttaaggAGATCGAGACCCGACGC chr11:34115768-Reference-C;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Reference C cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CGACAGTCGTGT CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAcgacagtcgtgtAGATCGAGACCCGACGC chr11:34115768-Reference-C;Patient-55 chr11:34115768-CT Inherited Patient-55 intronic CAPRIN1 NA 4.95e-05 -0.02 2.31 0.14 NAT10 11380 Reference C cattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcg CGTTGGAGCAAG CGACGCGGTCTCTCTCTcattgtgggccgttgtccagtgcagtgatgcagtctcggctcactgcaacCtccgcctcttaggttcaatcgcttgggttcaagcgattctcctgcctcgAGAGGGAGACGGACGTCTCAATAAcgttggagcaagAGATCGAGACCCGACGC chr11:34115768-Reference-C;Patient-55 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative T tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat ATTCGAGTGGAC CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAattcgagtggacAGATCGAGACCCGACGC chr11:34407789-Alternative-T;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative T tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat AAGTGTACGAGT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAaagtgtacgagtAGATCGAGACCCGACGC chr11:34407789-Alternative-T;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Variant A tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat AATGCGTGTCTA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAaatgcgtgtctaAGATCGAGACCCGACGC chr11:34407789-Variant-A;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Variant A tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat ACTCTAACCTGT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAactctaacctgtAGATCGAGACCCGACGC chr11:34407789-Variant-A;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Variant A tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat CAGACGCTACGT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAcagacgctacgtAGATCGAGACCCGACGC chr11:34407789-Variant-A;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative T tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat ACACCGTGTAAC CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAacaccgtgtaacAGATCGAGACCCGACGC chr11:34407789-Alternative-T;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative T tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GGACCATTGATT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAggaccattgattAGATCGAGACCCGACGC chr11:34407789-Alternative-T;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Variant A tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat CTAGCGGCGTAA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAActagcggcgtaaAGATCGAGACCCGACGC chr11:34407789-Variant-A;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Variant A tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat ACACAACTCACA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacActgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAacacaactcacaAGATCGAGACCCGACGC chr11:34407789-Variant-A;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Reference C tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GGATGCATCACT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAggatgcatcactAGATCGAGACCCGACGC chr11:34407789-Reference-C;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative T tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat CTATCGGCTGAG CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacTctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAActatcggctgagAGATCGAGACCCGACGC chr11:34407789-Alternative-T;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Reference C tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GGACGTGCTTGT CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAggacgtgcttgtAGATCGAGACCCGACGC chr11:34407789-Reference-C;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Reference C tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat CTCTTGAATCAG CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAActcttgaatcagAGATCGAGACCCGACGC chr11:34407789-Reference-C;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Reference C tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat AGTAGATGTGCA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAagtagatgtgcaAGATCGAGACCCGACGC chr11:34407789-Reference-C;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Reference C tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat CTAAGTCGTACA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacCctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAActaagtcgtacaAGATCGAGACCCGACGC chr11:34407789-Reference-C;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative G tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat ACGTCACGACAC CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAacgtcacgacacAGATCGAGACCCGACGC chr11:34407789-Alternative-G;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative G tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GATAGGTTCTAC CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAgataggttctacAGATCGAGACCCGACGC chr11:34407789-Alternative-G;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative G tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GAATCAAGTAGG CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAgaatcaagtaggAGATCGAGACCCGACGC chr11:34407789-Alternative-G;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative G tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GTCATCGAGACA CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAgtcatcgagacaAGATCGAGACCCGACGC chr11:34407789-Alternative-G;Patient-87 chr11:34407789-CA Inherited Patient-87 intergenic 0.000178 0.00154 -0.08 1.61 0 CAT 52682 Alternative G tcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctat GGCGAGTTGTTC CGACGCGGTCTCTCTCTtcccccctccccccaccccacgacaggcgccagtgtgtgatgttccccacGctgtggggaacgtgtgtccaagtgttctcattgttcaattcccacctatAGAGGGAGACGGACGTCTCAATAAggcgagttgttcAGATCGAGACCCGACGC chr11:34407789-Alternative-G;Patient-87 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Variant A gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc ACCAACTTCTAC CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAaccaacttctacAGATCGAGACCCGACGC chr11:34526279-Variant-A;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Variant A gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GAGTCTAGCGCA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgagtctagcgcaAGATCGAGACCCGACGC chr11:34526279-Variant-A;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative T gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc ATTCGTGCGCAG CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAattcgtgcgcagAGATCGAGACCCGACGC chr11:34526279-Alternative-T;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Variant A gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GCGTGAACCGAA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgcgtgaaccgaaAGATCGAGACCCGACGC chr11:34526279-Variant-A;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Reference C gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CTCTTCGTGCGA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAActcttcgtgcgaAGATCGAGACCCGACGC chr11:34526279-Reference-C;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Variant A gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GGTAGACATCCA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAggtagacatccaAGATCGAGACCCGACGC chr11:34526279-Variant-A;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative T gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GGCTACCTTGCT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAggctaccttgctAGATCGAGACCCGACGC chr11:34526279-Alternative-T;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Reference C gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CGTTCCGACGTT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAcgttccgacgttAGATCGAGACCCGACGC chr11:34526279-Reference-C;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Reference C gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CGTAGTTGTGAT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAcgtagttgtgatAGATCGAGACCCGACGC chr11:34526279-Reference-C;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Variant A gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CGACCAACGTAA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccAaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAcgaccaacgtaaAGATCGAGACCCGACGC chr11:34526279-Variant-A;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Reference C gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GCATGTCGATGC CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgcatgtcgatgcAGATCGAGACCCGACGC chr11:34526279-Reference-C;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Reference C gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GCATTCAGAACG CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccCaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgcattcagaacgAGATCGAGACCCGACGC chr11:34526279-Reference-C;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative T gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GTTGTGACGCGT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgttgtgacgcgtAGATCGAGACCCGACGC chr11:34526279-Alternative-T;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative T gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CGGTATCAATGA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAcggtatcaatgaAGATCGAGACCCGACGC chr11:34526279-Alternative-T;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative T gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CATTACTGGCAT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccTaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAcattactggcatAGATCGAGACCCGACGC chr11:34526279-Alternative-T;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative G gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc ACTGAGACTGCG CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAactgagactgcgAGATCGAGACCCGACGC chr11:34526279-Alternative-G;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative G gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc CTCTGAGTCGAG CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAActctgagtcgagAGATCGAGACCCGACGC chr11:34526279-Alternative-G;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative G gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GGCTGATAGTAA CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAggctgatagtaaAGATCGAGACCCGACGC chr11:34526279-Alternative-G;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative G gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc GACGCAGTGAAC CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAgacgcagtgaacAGATCGAGACCCGACGC chr11:34526279-Alternative-G;Patient-15 chr11:34526279-CA DeNovo Patient-15 intronic ELF5 NA 3.92e-05 0.98 13.17 2.61 ELF5 9067 Alternative G gctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctc AGTCGCATTGAT CGACGCGGTCTCTCTCTgctcctgttgtgccagcagtcagccaggtgtgctgtgatatgtggtcaccGaagcacctcagtgacagaggccctcagagggtttctgggggcaaagctcAGAGGGAGACGGACGTCTCAATAAagtcgcattgatAGATCGAGACCCGACGC chr11:34526279-Alternative-G;Patient-15 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative A gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat GTAATTATGCCG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAgtaattatgccgAGATCGAGACCCGACGC chr11:34567004-Alternative-A;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative A gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CAAGCGTACGGT CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcaagcgtacggtAGATCGAGACCCGACGC chr11:34567004-Alternative-A;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Variant C gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CTATCTCGTGCG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAActatctcgtgcgAGATCGAGACCCGACGC chr11:34567004-Variant-C;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative A gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CAGCGGAGAGTT CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcagcggagagttAGATCGAGACCCGACGC chr11:34567004-Alternative-A;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Variant C gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat AATACGAACGAC CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAaatacgaacgacAGATCGAGACCCGACGC chr11:34567004-Variant-C;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Variant C gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat GAGCATCTGATT CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAgagcatctgattAGATCGAGACCCGACGC chr11:34567004-Variant-C;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative A gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CTGTTCGTTAAC CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAActgttcgttaacAGATCGAGACCCGACGC chr11:34567004-Alternative-A;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Variant C gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CTAGCGATATGG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAActagcgatatggAGATCGAGACCCGACGC chr11:34567004-Variant-C;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative G gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat GTAGAGTCATAC CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAgtagagtcatacAGATCGAGACCCGACGC chr11:34567004-Alternative-G;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Variant C gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat GTCCGGATATCG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaCaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAgtccggatatcgAGATCGAGACCCGACGC chr11:34567004-Variant-C;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Reference T gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGATCTTACTGA CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcgatcttactgaAGATCGAGACCCGACGC chr11:34567004-Reference-T;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative A gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGTTATCACGAA CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaAaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcgttatcacgaaAGATCGAGACCCGACGC chr11:34567004-Alternative-A;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Reference T gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGACGCTCAACA CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcgacgctcaacaAGATCGAGACCCGACGC chr11:34567004-Reference-T;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Reference T gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat ACCACATTCAGT CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAaccacattcagtAGATCGAGACCCGACGC chr11:34567004-Reference-T;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Reference T gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGGCATGTCTAC CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcggcatgtctacAGATCGAGACCCGACGC chr11:34567004-Reference-T;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative G gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGACCAACGAGA CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcgaccaacgagaAGATCGAGACCCGACGC chr11:34567004-Alternative-G;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Reference T gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat GATAAGGAACGC CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaTaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAgataaggaacgcAGATCGAGACCCGACGC chr11:34567004-Reference-T;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative G gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat ACTAGCGTTGTT CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAactagcgttgttAGATCGAGACCCGACGC chr11:34567004-Alternative-G;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative G gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat CGTTATCGGTGG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAcgttatcggtggAGATCGAGACCCGACGC chr11:34567004-Alternative-G;Patient-99 chr11:34567004-TC DeNovo Patient-99 intergenic 0.000605 0.000513 -0.12 1.25 -2.37 ELF5 31656 Alternative G gatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttat AGTACGCGATCG CGACGCGGTCTCTCTCTgatgcagagcagctgtcaagagggaccctcccaggccttgcccactctgaGaattgatctgaaaaacaatattgctctcaaagagtaagaagggatttatAGAGGGAGACGGACGTCTCAATAAagtacgcgatcgAGATCGAGACCCGACGC chr11:34567004-Alternative-G;Patient-99 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Reference C tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt GGTCAACGGACA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAggtcaacggacaAGATCGAGACCCGACGC chr11:36684106-Reference-C;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative A tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CACGGTGTACGT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcacggtgtacgtAGATCGAGACCCGACGC chr11:36684106-Alternative-A;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Reference C tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt ATCCGGTAGCCA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAatccggtagccaAGATCGAGACCCGACGC chr11:36684106-Reference-C;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Reference C tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt GTCGGAGCAACA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAgtcggagcaacaAGATCGAGACCCGACGC chr11:36684106-Reference-C;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative A tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt ACCTTAACACAC CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAaccttaacacacAGATCGAGACCCGACGC chr11:36684106-Alternative-A;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative G tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CTTGCTGCATTA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAActtgctgcattaAGATCGAGACCCGACGC chr11:36684106-Alternative-G;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative A tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CATAGGTGTAAG CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcataggtgtaagAGATCGAGACCCGACGC chr11:36684106-Alternative-A;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative G tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt AACGCAGTAACA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAaacgcagtaacaAGATCGAGACCCGACGC chr11:36684106-Alternative-G;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative A tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CAAGGAGGTTAT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcaaggaggttatAGATCGAGACCCGACGC chr11:36684106-Alternative-A;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Reference C tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CGTGTTGCACAG CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcgtgttgcacagAGATCGAGACCCGACGC chr11:36684106-Reference-C;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative A tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt ACAGGTAGACGT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagAgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAacaggtagacgtAGATCGAGACCCGACGC chr11:36684106-Alternative-A;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative G tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CTCATCGCTGGT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAActcatcgctggtAGATCGAGACCCGACGC chr11:36684106-Alternative-G;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Reference C tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CTAGACTATCGC CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagCgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAActagactatcgcAGATCGAGACCCGACGC chr11:36684106-Reference-C;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative G tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt AAGCAACAACCA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAaagcaacaaccaAGATCGAGACCCGACGC chr11:36684106-Alternative-G;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Alternative G tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt GATGTGCCAGTC CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagGgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAgatgtgccagtcAGATCGAGACCCGACGC chr11:36684106-Alternative-G;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Variant T tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt GCAAGCAAGCGT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAgcaagcaagcgtAGATCGAGACCCGACGC chr11:36684106-Variant-T;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Variant T tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CGGATTCTCCGA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcggattctccgaAGATCGAGACCCGACGC chr11:36684106-Variant-T;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Variant T tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt ATAACTCGGTCA CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAataactcggtcaAGATCGAGACCCGACGC chr11:36684106-Variant-T;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Variant T tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt CAGAGCGGTGAT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAcagagcggtgatAGATCGAGACCCGACGC chr11:36684106-Variant-T;Patient-63 chr11:36684106-CT DeNovo Patient-63 intergenic 6.4e-05 0.00103 -0.21 0.66 -0.54 RAG2 64276 Variant T tgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggt AGGCTATATGCT CGACGCGGTCTCTCTCTtgggtaaaagtggagggcatagattggatgaggtttgggagcagaagcagTgaggatttttgactagtgcattgtggaaatgagagagcaattgtggggtAGAGGGAGACGGACGTCTCAATAAaggctatatgctAGATCGAGACCCGACGC chr11:36684106-Variant-T;Patient-63 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative A aagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CTTATGCTTCGA CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAActtatgcttcgaAGATCGAGACCCGACGC chr11:3946874-Alternative-A;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative A aagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ATCATCAACACG CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAatcatcaacacgAGATCGAGACCCGACGC chr11:3946874-Alternative-A;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative A aagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ATCCGATAACGG CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAatccgataacggAGATCGAGACCCGACGC chr11:3946874-Alternative-A;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Variant C aagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GTGAGCTTGTTC CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgtgagcttgttcAGATCGAGACCCGACGC chr11:3946874-Variant-C;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative A aagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GATACGTTCGGC CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgatacgttcggcAGATCGAGACCCGACGC chr11:3946874-Alternative-A;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative A aagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ACGCACCGTGAT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttAattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAacgcaccgtgatAGATCGAGACCCGACGC chr11:3946874-Alternative-A;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Reference T aagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CTAAGCAGGCGT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAActaagcaggcgtAGATCGAGACCCGACGC chr11:3946874-Reference-T;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative G aagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CGTCGAACGTGT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAcgtcgaacgtgtAGATCGAGACCCGACGC chr11:3946874-Alternative-G;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative G aagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GATAACATCGCT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgataacatcgctAGATCGAGACCCGACGC chr11:3946874-Alternative-G;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative G aagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GCAACATCAAGT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgcaacatcaagtAGATCGAGACCCGACGC chr11:3946874-Alternative-G;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative G aagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GCACCTACGTCT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgcacctacgtctAGATCGAGACCCGACGC chr11:3946874-Alternative-G;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Alternative G aagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CTAGTGGTTGCA CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttGattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAActagtggttgcaAGATCGAGACCCGACGC chr11:3946874-Alternative-G;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Reference T aagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ATCGTTCGTGCG CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAatcgttcgtgcgAGATCGAGACCCGACGC chr11:3946874-Reference-T;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Reference T aagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ACTGCATGAATC CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAactgcatgaatcAGATCGAGACCCGACGC chr11:3946874-Reference-T;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Variant C aagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CTTATTCCGGTT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAActtattccggttAGATCGAGACCCGACGC chr11:3946874-Variant-C;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Variant C aagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtat AGTGACGCGGAA CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAagtgacgcggaaAGATCGAGACCCGACGC chr11:3946874-Variant-C;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Variant C aagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtat GTATCTCACAAG CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAgtatctcacaagAGATCGAGACCCGACGC chr11:3946874-Variant-C;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Reference T aagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CAAGCATTGAGT CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAcaagcattgagtAGATCGAGACCCGACGC chr11:3946874-Reference-T;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Reference T aagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtat CGCTGGTCACTA CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttTattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAcgctggtcactaAGATCGAGACCCGACGC chr11:3946874-Reference-T;Patient-88 chr11:3946874-TC DeNovo Patient-88 intronic STIM1 NA 4.19e-05 0.38 8.14 0.02 STIM1 69940 Variant C aagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtat ATCGACCACAAC CGACGCGGTCTCTCTCTaagtttatcttcagatataatttttagatggtttttaatcatgatagcttCattttatcattatttaatataatggtcaacaaattatgcctgcttgtatAGAGGGAGACGGACGTCTCAATAAatcgaccacaacAGATCGAGACCCGACGC chr11:3946874-Variant-C;Patient-88 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Variant G caaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GTGATGACGCAT CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAgtgatgacgcatAGATCGAGACCCGACGC chr11:4164455-Variant-G;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Variant G caaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GCATACGATAAG CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAgcatacgataagAGATCGAGACCCGACGC chr11:4164455-Variant-G;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Variant G caaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AGCACCTACCGA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAagcacctaccgaAGATCGAGACCCGACGC chr11:4164455-Variant-G;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Variant G caaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg ATTCTGTCGCAT CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAattctgtcgcatAGATCGAGACCCGACGC chr11:4164455-Variant-G;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Variant G caaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AGCTCCGTCTAC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccGggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAagctccgtctacAGATCGAGACCCGACGC chr11:4164455-Variant-G;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Reference A caaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg CTTGTTGCGTCG CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAActtgttgcgtcgAGATCGAGACCCGACGC chr11:4164455-Reference-A;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative T caaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg CTTAGCGTCGTC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAActtagcgtcgtcAGATCGAGACCCGACGC chr11:4164455-Alternative-T;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative T caaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GTCCGGTTGTTC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAgtccggttgttcAGATCGAGACCCGACGC chr11:4164455-Alternative-T;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Reference A caaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg CTCTCGACGGAA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAActctcgacggaaAGATCGAGACCCGACGC chr11:4164455-Reference-A;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative C caaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AGGTTAATGCGT CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAaggttaatgcgtAGATCGAGACCCGACGC chr11:4164455-Alternative-C;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Reference A caaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GAAGATGGAAGG CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAgaagatggaaggAGATCGAGACCCGACGC chr11:4164455-Reference-A;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative C caaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GGCCGATTAATA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAggccgattaataAGATCGAGACCCGACGC chr11:4164455-Alternative-C;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Reference A caaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg ACACTGAAGGAC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAacactgaaggacAGATCGAGACCCGACGC chr11:4164455-Reference-A;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative C caaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GGTTGCGTGCAT CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAggttgcgtgcatAGATCGAGACCCGACGC chr11:4164455-Alternative-C;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative C caaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg ACGCATGTTAGA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAacgcatgttagaAGATCGAGACCCGACGC chr11:4164455-Alternative-C;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Reference A caaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg GGACGGTGTAAC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccAggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAggacggtgtaacAGATCGAGACCCGACGC chr11:4164455-Reference-A;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative C caaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg ACAATGGCTCTA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccCggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAacaatggctctaAGATCGAGACCCGACGC chr11:4164455-Alternative-C;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative T caaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AGTGTTCGCTAA CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAagtgttcgctaaAGATCGAGACCCGACGC chr11:4164455-Alternative-T;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative T caaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AAGGACCGTAAT CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAaaggaccgtaatAGATCGAGACCCGACGC chr11:4164455-Alternative-T;Patient-39 chr11:4164455-AG DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.19 5.71 0.15 RRM1 48530 Alternative T caaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatgg AGTTCGAATTGC CGACGCGGTCTCTCTCTcaaaccttttgaggattactggacacagactctaaactgacactagttccTggaaactaaaacgtcactgtgatcttccagctggagtaggagcttatggAGAGGGAGACGGACGTCTCAATAAagttcgaattgcAGATCGAGACCCGACGC chr11:4164455-Alternative-T;Patient-39 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Reference G aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGCGATCATTAA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcgcgatcattaaAGATCGAGACCCGACGC chr11:43667590-Reference-G;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Variant T aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt ACTTACACGGCG CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAacttacacggcgAGATCGAGACCCGACGC chr11:43667590-Variant-T;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Reference G aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GTGCTAGGTATT CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgtgctaggtattAGATCGAGACCCGACGC chr11:43667590-Reference-G;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Variant T aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGACGCAGCTTA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcgacgcagcttaAGATCGAGACCCGACGC chr11:43667590-Variant-T;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Variant T aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GAGCATAACGAG CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgagcataacgagAGATCGAGACCCGACGC chr11:43667590-Variant-T;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Variant T aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt AGCGGAGAACGT CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAagcggagaacgtAGATCGAGACCCGACGC chr11:43667590-Variant-T;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Reference G aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt ACGCGGAATGCA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAacgcggaatgcaAGATCGAGACCCGACGC chr11:43667590-Reference-G;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Reference G aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt ACGTGCAAGTAA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAacgtgcaagtaaAGATCGAGACCCGACGC chr11:43667590-Reference-G;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative A aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGGTCTATACGC CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcggtctatacgcAGATCGAGACCCGACGC chr11:43667590-Alternative-A;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Reference G aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GTGATCGTCATA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgGaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgtgatcgtcataAGATCGAGACCCGACGC chr11:43667590-Reference-G;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative A aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GATTCCTGTAGA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgattcctgtagaAGATCGAGACCCGACGC chr11:43667590-Alternative-A;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative A aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGCGCAGTAAGA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcgcgcagtaagaAGATCGAGACCCGACGC chr11:43667590-Alternative-A;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative C aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GCGGATAGTACG CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgcggatagtacgAGATCGAGACCCGACGC chr11:43667590-Alternative-C;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative C aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GGTTATAGTACC CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAggttatagtaccAGATCGAGACCCGACGC chr11:43667590-Alternative-C;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Variant T aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GCGCGTCAGATA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgTaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAgcgcgtcagataAGATCGAGACCCGACGC chr11:43667590-Variant-T;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative A aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGGAGCCGATTA CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcggagccgattaAGATCGAGACCCGACGC chr11:43667590-Alternative-A;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative A aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt ATAAGCGCGTGT CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgAaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAataagcgcgtgtAGATCGAGACCCGACGC chr11:43667590-Alternative-A;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative C aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGATTCCTAGCT CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcgattcctagctAGATCGAGACCCGACGC chr11:43667590-Alternative-C;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative C aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt CGGCCTGTTAAC CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAcggcctgttaacAGATCGAGACCCGACGC chr11:43667590-Alternative-C;Patient-89 chr11:43667590-GT Inherited Patient-89 intergenic 0.00016 0.000512821 -0.32 0.31 -0.7 HSD17B12 34552 Alternative C aaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagt GGCTCGAGTATC CGACGCGGTCTCTCTCTaaaaaaattagctgggtgttgtggcaggtgcctgtagtccggctactctgCaggctgaggcaggagaatcggcttgaacctgggaggtggaggcggcagtAGAGGGAGACGGACGTCTCAATAAggctcgagtatcAGATCGAGACCCGACGC chr11:43667590-Alternative-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative A ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaattt GATTCAAGCGAT CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgattcaagcgatAGATCGAGACCCGACGC chr11:44107386-Alternative-A;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative A ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaattt GTAACTCGTGCG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgtaactcgtgcgAGATCGAGACCCGACGC chr11:44107386-Alternative-A;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Reference C ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaattt CGTTGACTAAGT CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAcgttgactaagtAGATCGAGACCCGACGC chr11:44107386-Reference-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Reference C ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaattt GTGTCGTCTTCG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgtgtcgtcttcgAGATCGAGACCCGACGC chr11:44107386-Reference-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Reference C ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaattt GTTCGCACTTCG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgttcgcacttcgAGATCGAGACCCGACGC chr11:44107386-Reference-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative G ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaattt ACATAGCACCTA CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAacatagcacctaAGATCGAGACCCGACGC chr11:44107386-Alternative-G;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Variant T ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaattt GAGTCATACTTC CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgagtcatacttcAGATCGAGACCCGACGC chr11:44107386-Variant-T;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Reference C ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaattt GTCGGAATTGAA CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgtcggaattgaaAGATCGAGACCCGACGC chr11:44107386-Reference-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative G ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaattt AATCGCTGGTTA CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAaatcgctggttaAGATCGAGACCCGACGC chr11:44107386-Alternative-G;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Reference C ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaattt GGACGGAATTCG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctCtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAggacggaattcgAGATCGAGACCCGACGC chr11:44107386-Reference-C;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Variant T ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaattt AGGCTCATCTAA CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAaggctcatctaaAGATCGAGACCCGACGC chr11:44107386-Variant-T;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative G ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaattt CACATCGTAAGG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAcacatcgtaaggAGATCGAGACCCGACGC chr11:44107386-Alternative-G;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative A ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaattt ATCCGGATGGTT CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAatccggatggttAGATCGAGACCCGACGC chr11:44107386-Alternative-A;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative G ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaattt AGGCTTACGTGC CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAaggcttacgtgcAGATCGAGACCCGACGC chr11:44107386-Alternative-G;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Variant T ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaattt ATAGGCCATACT CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAataggccatactAGATCGAGACCCGACGC chr11:44107386-Variant-T;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Variant T ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaattt GATTCGACCTGG CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAgattcgacctggAGATCGAGACCCGACGC chr11:44107386-Variant-T;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative G ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaattt CGAGGCTAACCA CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctGtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAcgaggctaaccaAGATCGAGACCCGACGC chr11:44107386-Alternative-G;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative A ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaattt ACGCTTAACGGC CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAacgcttaacggcAGATCGAGACCCGACGC chr11:44107386-Alternative-A;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Variant T ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaattt ACCATGTCGTCC CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctTtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAaccatgtcgtccAGATCGAGACCCGACGC chr11:44107386-Variant-T;Patient-89 chr11:44107386-CT Inherited Patient-89 intergenic 0.000223 0.000512821 -0.31 0.35 -0.89 EXT2 9712 Alternative A ttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaattt AGGCGTCGTGAT CGACGCGGTCTCTCTCTttaaatgtatgatatagatcaacttgctctgtcttcatgtctcctaatctAtttttcatattttctttctcatctttctgtgctacattcagggtaatttAGAGGGAGACGGACGTCTCAATAAaggcgtcgtgatAGATCGAGACCCGACGC chr11:44107386-Alternative-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Reference T agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CATCTTAGCGGC CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAcatcttagcggcAGATCGAGACCCGACGC chr11:44119335-Reference-T;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Reference T agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg AAGGAACAACAG CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAaaggaacaacagAGATCGAGACCCGACGC chr11:44119335-Reference-T;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Variant A agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CACTTACGAGCA CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAcacttacgagcaAGATCGAGACCCGACGC chr11:44119335-Variant-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Variant A agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CTTAGCTAAGGT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAActtagctaaggtAGATCGAGACCCGACGC chr11:44119335-Variant-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Variant A agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CTCGGTATGACC CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAActcggtatgaccAGATCGAGACCCGACGC chr11:44119335-Variant-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Variant A agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GCAGGATCTTCG CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAgcaggatcttcgAGATCGAGACCCGACGC chr11:44119335-Variant-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Reference T agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GTGACGCTATAT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAgtgacgctatatAGATCGAGACCCGACGC chr11:44119335-Reference-T;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Reference T agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GGCGGCGTTATT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAggcggcgttattAGATCGAGACCCGACGC chr11:44119335-Reference-T;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative C agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GGTATTCGCATA CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAggtattcgcataAGATCGAGACCCGACGC chr11:44119335-Alternative-C;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Variant A agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg ACGGCTTAACAT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaAaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAacggcttaacatAGATCGAGACCCGACGC chr11:44119335-Variant-A;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative C agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CGGCTGTTATAA CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAcggctgttataaAGATCGAGACCCGACGC chr11:44119335-Alternative-C;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative C agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GAGCAAGAACGG CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAgagcaagaacggAGATCGAGACCCGACGC chr11:44119335-Alternative-C;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative C agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CGTAACGAGATT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAcgtaacgagattAGATCGAGACCCGACGC chr11:44119335-Alternative-C;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Reference T agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GTGATCGTAACT CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaTaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAgtgatcgtaactAGATCGAGACCCGACGC chr11:44119335-Reference-T;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative C agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg GTCGTCGTTGAG CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaCaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAgtcgtcgttgagAGATCGAGACCCGACGC chr11:44119335-Alternative-C;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative G agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CTACGTTGTATC CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAActacgttgtatcAGATCGAGACCCGACGC chr11:44119335-Alternative-G;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative G agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg ACATAACTCGCA CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAacataactcgcaAGATCGAGACCCGACGC chr11:44119335-Alternative-G;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative G agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CACTTATTGTGC CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAcacttattgtgcAGATCGAGACCCGACGC chr11:44119335-Alternative-G;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative G agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg CTATCGCACTGA CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAActatcgcactgaAGATCGAGACCCGACGC chr11:44119335-Alternative-G;Patient-89 chr11:44119335-TA Inherited Patient-89 intronic EXT2 0.000765 4.95e-05 -0.1 1.4 0 EXT2 2235 Alternative G agtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactg ATACTTCTTGCG CGACGCGGTCTCTCTCTagtgacagagcaagactccatctcaaaaaataaataaataaataaataaaGaaataaataaataaaataaaaataaaaaggttgaaacgacaagagactgAGAGGGAGACGGACGTCTCAATAAatacttcttgcgAGATCGAGACCCGACGC chr11:44119335-Alternative-G;Patient-89 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Variant T agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GACGTTACAAGT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgacgttacaagtAGATCGAGACCCGACGC chr11:44148270-Variant-T;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative A agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga ATAGGTGTCCAT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAataggtgtccatAGATCGAGACCCGACGC chr11:44148270-Alternative-A;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative A agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTGTCTATTAGG CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgtgtctattaggAGATCGAGACCCGACGC chr11:44148270-Alternative-A;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Variant T agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GGACGGCAAGTT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAggacggcaagttAGATCGAGACCCGACGC chr11:44148270-Variant-T;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative G agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTGGCTAAGGAC CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgtggctaaggacAGATCGAGACCCGACGC chr11:44148270-Alternative-G;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Variant T agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTTCATTACCGT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgttcattaccgtAGATCGAGACCCGACGC chr11:44148270-Variant-T;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative A agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga CAACAGCGTAAC CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAcaacagcgtaacAGATCGAGACCCGACGC chr11:44148270-Alternative-A;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative A agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga AGAGTGTCGAGA CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAagagtgtcgagaAGATCGAGACCCGACGC chr11:44148270-Alternative-A;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Reference C agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTAAGCGTCATT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgtaagcgtcattAGATCGAGACCCGACGC chr11:44148270-Reference-C;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative G agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga ATCTCATCGGAT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAatctcatcggatAGATCGAGACCCGACGC chr11:44148270-Alternative-G;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative G agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GCGTGTACGAAC CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgcgtgtacgaacAGATCGAGACCCGACGC chr11:44148270-Alternative-G;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative A agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GGCAATATACGT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggAgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAggcaatatacgtAGATCGAGACCCGACGC chr11:44148270-Alternative-A;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Variant T agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GACTGCGTTGGT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgactgcgttggtAGATCGAGACCCGACGC chr11:44148270-Variant-T;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative G agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTGCTCATTATC CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgtgctcattatcAGATCGAGACCCGACGC chr11:44148270-Alternative-G;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Reference C agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga ACTTGCGGCTGA CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAacttgcggctgaAGATCGAGACCCGACGC chr11:44148270-Reference-C;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Alternative G agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga ACCGACGGTACT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggGgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAaccgacggtactAGATCGAGACCCGACGC chr11:44148270-Alternative-G;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Reference C agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GCGTGCTACCAT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgcgtgctaccatAGATCGAGACCCGACGC chr11:44148270-Reference-C;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Variant T agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga GTGACGACCAAG CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggTgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAgtgacgaccaagAGATCGAGACCCGACGC chr11:44148270-Variant-T;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Reference C agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga CATTCGGAGTAT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAcattcggagtatAGATCGAGACCCGACGC chr11:44148270-Reference-C;Patient-86 chr11:44148270-CT DeNovo Patient-86 intronic EXT2 3.2e-05 4.95e-05 0.12 4.53 1.14 EXT2 31170 Reference C agctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtgga CGATGCCGTACT CGACGCGGTCTCTCTCTagctgttgtcttttggcatttttgtgtcaagatgcctcagtattgcttggCgtcaacccttgtagaaactttgtggtctgtagggatcaaagttagtggaAGAGGGAGACGGACGTCTCAATAAcgatgccgtactAGATCGAGACCCGACGC chr11:44148270-Reference-C;Patient-86 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative G gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca ACGCCTAAGCAT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAacgcctaagcatAGATCGAGACCCGACGC chr11:45809030-Alternative-G;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Reference C gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca ACGTAGGAGTAT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAacgtaggagtatAGATCGAGACCCGACGC chr11:45809030-Reference-C;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative A gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GGCCATTCATAC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAggccattcatacAGATCGAGACCCGACGC chr11:45809030-Alternative-A;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Reference C gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca ATAGATCCAACC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAatagatccaaccAGATCGAGACCCGACGC chr11:45809030-Reference-C;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative A gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GGACACTTAACT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAggacacttaactAGATCGAGACCCGACGC chr11:45809030-Alternative-A;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative A gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CTATAGGTACAC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAActataggtacacAGATCGAGACCCGACGC chr11:45809030-Alternative-A;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Variant T gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca ACGTTATAGTCG CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAacgttatagtcgAGATCGAGACCCGACGC chr11:45809030-Variant-T;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Reference C gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca AATAAGGTCGAC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAaataaggtcgacAGATCGAGACCCGACGC chr11:45809030-Reference-C;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative G gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CATTCTCCGAAC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAcattctccgaacAGATCGAGACCCGACGC chr11:45809030-Alternative-G;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Variant T gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GCGGATTGACAG CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAgcggattgacagAGATCGAGACCCGACGC chr11:45809030-Variant-T;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Reference C gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CTAATGAGGAGT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAActaatgaggagtAGATCGAGACCCGACGC chr11:45809030-Reference-C;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Variant T gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CTCACGCTATAT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAActcacgctatatAGATCGAGACCCGACGC chr11:45809030-Variant-T;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative G gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GGATGCTCAAGG CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAggatgctcaaggAGATCGAGACCCGACGC chr11:45809030-Alternative-G;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Variant T gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CTGCATTACCAC CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAActgcattaccacAGATCGAGACCCGACGC chr11:45809030-Variant-T;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Reference C gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GCGATCTAACCT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgCtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAgcgatctaacctAGATCGAGACCCGACGC chr11:45809030-Reference-C;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative G gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GTCGCATCACGA CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAgtcgcatcacgaAGATCGAGACCCGACGC chr11:45809030-Alternative-G;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative A gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca CTCAATCCGAAT CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAActcaatccgaatAGATCGAGACCCGACGC chr11:45809030-Alternative-A;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative A gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca AATGCCTCGTGG CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgAtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAaatgcctcgtggAGATCGAGACCCGACGC chr11:45809030-Alternative-A;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Alternative G gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GATGATTAACGG CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgGtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAgatgattaacggAGATCGAGACCCGACGC chr11:45809030-Alternative-G;Patient-81 chr11:45809030-CT DeNovo Patient-81 intergenic 0.000924 0.00308 -0.56 0.06 0 SLC35C1 16592 Variant T gagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctca GTCAAGTGATGA CGACGCGGTCTCTCTCTgagcacacaacctagatttcttgaatgcacagttcacaatagggtttgtgTtcctatgagaatccaataccaccactaatgtgacaggaggcagatctcaAGAGGGAGACGGACGTCTCAATAAgtcaagtgatgaAGATCGAGACCCGACGC chr11:45809030-Variant-T;Patient-81 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Variant G ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttc AGATTGAAGCGT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAagattgaagcgtAGATCGAGACCCGACGC chr11:45851017-Variant-G;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Variant G ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttc CGCAATCATACT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAcgcaatcatactAGATCGAGACCCGACGC chr11:45851017-Variant-G;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Variant G ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTAACGTGTCGC CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtaacgtgtcgcAGATCGAGACCCGACGC chr11:45851017-Variant-G;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative A ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttc GGCTCACGTAAG CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAggctcacgtaagAGATCGAGACCCGACGC chr11:45851017-Alternative-A;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Reference C ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttc GCGTTGGATCGA CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgcgttggatcgaAGATCGAGACCCGACGC chr11:45851017-Reference-C;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Reference C ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttc AATAAGGCTCGA CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAaataaggctcgaAGATCGAGACCCGACGC chr11:45851017-Reference-C;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative A ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttc CTTACTAATCGC CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAActtactaatcgcAGATCGAGACCCGACGC chr11:45851017-Alternative-A;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Reference C ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTATCACGGTTA CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtatcacggttaAGATCGAGACCCGACGC chr11:45851017-Reference-C;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Reference C ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTAGATACTTCG CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtagatacttcgAGATCGAGACCCGACGC chr11:45851017-Reference-C;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Variant G ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttc GACCGTTACACG CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgaccgttacacgAGATCGAGACCCGACGC chr11:45851017-Variant-G;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative A ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttc GCGGTTAGAGCA CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgcggttagagcaAGATCGAGACCCGACGC chr11:45851017-Alternative-A;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative A ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttc ACCACATTACAC CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAaccacattacacAGATCGAGACCCGACGC chr11:45851017-Alternative-A;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative A ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTACGTATAAGG CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttAcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtacgtataaggAGATCGAGACCCGACGC chr11:45851017-Alternative-A;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Reference C ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttc GCGGAAGCTGAA CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttCcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgcggaagctgaaAGATCGAGACCCGACGC chr11:45851017-Reference-C;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative T ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTGCGGTGTCTT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtgcggtgtcttAGATCGAGACCCGACGC chr11:45851017-Alternative-T;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative T ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttc CTCTTGGAACTT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAActcttggaacttAGATCGAGACCCGACGC chr11:45851017-Alternative-T;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative T ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttc CGGTGGACTAAG CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAcggtggactaagAGATCGAGACCCGACGC chr11:45851017-Alternative-T;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative T ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttc GTGAACCGAGTT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAAgtgaaccgagttAGATCGAGACCCGACGC chr11:45851017-Alternative-T;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Variant G ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttc CTAGTACTCCGC CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttGcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAActagtactccgcAGATCGAGACCCGACGC chr11:45851017-Variant-G;Patient-92 chr11:45851017-CG Inherited Patient-92 intergenic 0.000351 0.00103 0.59 10.17 -0.9 PEX16 88362 Alternative T ctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttc CTACGGACGGTT CGACGCGGTCTCTCTCTctaatgggattgtccctgttttctgtcccagttcaaatgcccttctttttTcacctccacagaagagaagcttcccataggggattggtctggctgcttcAGAGGGAGACGGACGTCTCAATAActacggacggttAGATCGAGACCCGACGC chr11:45851017-Alternative-T;Patient-92 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Reference C gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt AATCTCCGCGGT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAaatctccgcggtAGATCGAGACCCGACGC chr11:45875538-Reference-C;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative T gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CAATAGCTAGCG CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAcaatagctagcgAGATCGAGACCCGACGC chr11:45875538-Alternative-T;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Reference C gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CGAATGTAACCT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAcgaatgtaacctAGATCGAGACCCGACGC chr11:45875538-Reference-C;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Variant A gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt GGCTAATACAAC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAggctaatacaacAGATCGAGACCCGACGC chr11:45875538-Variant-A;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative T gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt GATCCTTGTCAT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAgatccttgtcatAGATCGAGACCCGACGC chr11:45875538-Alternative-T;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative T gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt AGCCGGATGACT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAagccggatgactAGATCGAGACCCGACGC chr11:45875538-Alternative-T;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Reference C gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt GGTCGCGATTGT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAggtcgcgattgtAGATCGAGACCCGACGC chr11:45875538-Reference-C;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Variant A gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CAGTATAGCGAA CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAcagtatagcgaaAGATCGAGACCCGACGC chr11:45875538-Variant-A;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative T gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt ACGCGAGTGGAA CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAacgcgagtggaaAGATCGAGACCCGACGC chr11:45875538-Alternative-T;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative G gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt AGGTGAGGTCGT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAaggtgaggtcgtAGATCGAGACCCGACGC chr11:45875538-Alternative-G;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Variant A gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CGTAGTGTATCA CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAcgtagtgtatcaAGATCGAGACCCGACGC chr11:45875538-Variant-A;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Variant A gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt GGTAGAGCACAC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAggtagagcacacAGATCGAGACCCGACGC chr11:45875538-Variant-A;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative T gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt ACCACACCTACC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggTtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAaccacacctaccAGATCGAGACCCGACGC chr11:45875538-Alternative-T;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Variant A gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CATAAGGTGGAC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggAtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAcataaggtggacAGATCGAGACCCGACGC chr11:45875538-Variant-A;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Reference C gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt ACTAGCGATTGC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAactagcgattgcAGATCGAGACCCGACGC chr11:45875538-Reference-C;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Reference C gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt CTACGCGCTATC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggCtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAActacgcgctatcAGATCGAGACCCGACGC chr11:45875538-Reference-C;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative G gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt ACTGAACGACCG CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAactgaacgaccgAGATCGAGACCCGACGC chr11:45875538-Alternative-G;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative G gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt AGCTACGACGCT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAagctacgacgctAGATCGAGACCCGACGC chr11:45875538-Alternative-G;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative G gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt AGATCCGTACGC CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAagatccgtacgcAGATCGAGACCCGACGC chr11:45875538-Alternative-G;Patient-80 chr11:45875538-CA DeNovo Patient-80 intronic CRY2 NA 3.84e-05 -0.09 1.55 -0.17 CRY2 6868 Alternative G gtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgt ATTGTACCTGCT CGACGCGGTCTCTCTCTgtcttcctcatgctcttttgcaaacatgatgctttgagccgaggccagggGtcagcccatgctagaatgtgggtcggtggcattggccgtaggagtgtgtAGAGGGAGACGGACGTCTCAATAAattgtacctgctAGATCGAGACCCGACGC chr11:45875538-Alternative-G;Patient-80 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Variant T gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca CGATCGTTAGCG CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAcgatcgttagcgAGATCGAGACCCGACGC chr11:47355115-Variant-T;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Variant T gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GAGATGGCGCTT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgagatggcgcttAGATCGAGACCCGACGC chr11:47355115-Variant-T;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative A gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca AAGACGATACAC CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAaagacgatacacAGATCGAGACCCGACGC chr11:47355115-Alternative-A;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Variant T gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GCCGATTCTAGA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgccgattctagaAGATCGAGACCCGACGC chr11:47355115-Variant-T;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative A gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GCGGTTCTACAC CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgcggttctacacAGATCGAGACCCGACGC chr11:47355115-Alternative-A;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative A gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca ATTGGCCGGTCT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAattggccggtctAGATCGAGACCCGACGC chr11:47355115-Alternative-A;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative A gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca ACCTACCATGTT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAacctaccatgttAGATCGAGACCCGACGC chr11:47355115-Alternative-A;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative G gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca ACCTGACTTAAG CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAacctgacttaagAGATCGAGACCCGACGC chr11:47355115-Alternative-G;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Reference C gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca CTCGGTGTAGGT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAActcggtgtaggtAGATCGAGACCCGACGC chr11:47355115-Reference-C;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Reference C gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca AACAGGCTTAAG CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAaacaggcttaagAGATCGAGACCCGACGC chr11:47355115-Reference-C;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Reference C gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GTACTAGACACT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgtactagacactAGATCGAGACCCGACGC chr11:47355115-Reference-C;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Variant T gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca CTCTACTCGATA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAActctactcgataAGATCGAGACCCGACGC chr11:47355115-Variant-T;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative A gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca AGACCGCTCATA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacAtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAagaccgctcataAGATCGAGACCCGACGC chr11:47355115-Alternative-A;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Reference C gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca CTTACGCGACGA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAActtacgcgacgaAGATCGAGACCCGACGC chr11:47355115-Reference-C;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Reference C gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GGCCAATGGCTA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacCtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAggccaatggctaAGATCGAGACCCGACGC chr11:47355115-Reference-C;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Variant T gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GTATTCCGTCAA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacTtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgtattccgtcaaAGATCGAGACCCGACGC chr11:47355115-Variant-T;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative G gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca GACGTTCGTCGA CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAgacgttcgtcgaAGATCGAGACCCGACGC chr11:47355115-Alternative-G;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative G gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca ATAGCTAGCGGC CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAatagctagcggcAGATCGAGACCCGACGC chr11:47355115-Alternative-G;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative G gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca ACTAGTCTAGGT CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAactagtctaggtAGATCGAGACCCGACGC chr11:47355115-Alternative-G;Patient-83 chr11:47355115-CT DeNovo Patient-83 synonymous MYBPC3 NA 9.86e-05 1.55 16.04 5.22 MYBPC3 19137 Alternative G gggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtca AAGCGTTAAGTC CGACGCGGTCTCTCTCTgggaagggaaacaagggggctcaaggaggccttggccacgcaccaacaacGtgcagcaccagcgtggccttgtcctccatgttctcaatgcgcaccgtcaAGAGGGAGACGGACGTCTCAATAAaagcgttaagtcAGATCGAGACCCGACGC chr11:47355115-Alternative-G;Patient-83 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Reference C atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CAACTCGTACGG CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAcaactcgtacggAGATCGAGACCCGACGC chr11:47422378-Reference-C;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Variant A atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GGTTGACGTCAC CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAggttgacgtcacAGATCGAGACCCGACGC chr11:47422378-Variant-A;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Variant A atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc ACTCACGAGAGT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAactcacgagagtAGATCGAGACCCGACGC chr11:47422378-Variant-A;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Reference C atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GCATCAATGTTC CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAgcatcaatgttcAGATCGAGACCCGACGC chr11:47422378-Reference-C;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Variant A atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GGCCATATAAGA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAggccatataagaAGATCGAGACCCGACGC chr11:47422378-Variant-A;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Variant A atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GAGATGCCGAGA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAgagatgccgagaAGATCGAGACCCGACGC chr11:47422378-Variant-A;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative T atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CGTTCACCGGAT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAcgttcaccggatAGATCGAGACCCGACGC chr11:47422378-Alternative-T;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Reference C atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GGAGTCATCTAT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAggagtcatctatAGATCGAGACCCGACGC chr11:47422378-Reference-C;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Reference C atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc AAGTTCCGACTT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAaagttccgacttAGATCGAGACCCGACGC chr11:47422378-Reference-C;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative T atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GCCACTTAACGA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAgccacttaacgaAGATCGAGACCCGACGC chr11:47422378-Alternative-T;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Reference C atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CTATGGCGGTAC CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaCacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAActatggcggtacAGATCGAGACCCGACGC chr11:47422378-Reference-C;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative T atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CGTACGCTTCGT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAcgtacgcttcgtAGATCGAGACCCGACGC chr11:47422378-Alternative-T;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative T atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GACCACATACCA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAgaccacataccaAGATCGAGACCCGACGC chr11:47422378-Alternative-T;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Variant A atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CGGCTAAGGTCA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaAacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAcggctaaggtcaAGATCGAGACCCGACGC chr11:47422378-Variant-A;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative T atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc ACCGTACCAGTC CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaTacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAaccgtaccagtcAGATCGAGACCCGACGC chr11:47422378-Alternative-T;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative G atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc GACCTCAATCGG CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAgacctcaatcggAGATCGAGACCCGACGC chr11:47422378-Alternative-G;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative G atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc CTACGCTATTGA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAActacgctattgaAGATCGAGACCCGACGC chr11:47422378-Alternative-G;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative G atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc AAGCAACTGTTC CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAaagcaactgttcAGATCGAGACCCGACGC chr11:47422378-Alternative-G;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative G atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc ACTCTCGAAGAT CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAactctcgaagatAGATCGAGACCCGACGC chr11:47422378-Alternative-G;Patient-53 chr11:47422378-CA DeNovo Patient-53 intergenic NA 0.00016 0.1 4.3 -0.04 SPI1 22250 Alternative G atcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaatacc AGAGTAGTCAGA CGACGCGGTCTCTCTCTatcaaggaaaagaaaatcaagcaatccaatataaaaaaatagataacacaGacgcagcgcaggcatgttagggcagagaaaacgaatttgctcaaataccAGAGGGAGACGGACGTCTCAATAAagagtagtcagaAGATCGAGACCCGACGC chr11:47422378-Alternative-G;Patient-53 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative C ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GGCGTAGTTGAC CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAggcgtagttgacAGATCGAGACCCGACGC chr11:47642865-Alternative-C;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative C ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt ATCGAGTTGGTT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAatcgagttggttAGATCGAGACCCGACGC chr11:47642865-Alternative-C;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Variant A ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt AACTTCCGTAGT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAaacttccgtagtAGATCGAGACCCGACGC chr11:47642865-Variant-A;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative T ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GTAGGACCGAGT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAgtaggaccgagtAGATCGAGACCCGACGC chr11:47642865-Alternative-T;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative T ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt AAGACCTGTTCA CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAaagacctgttcaAGATCGAGACCCGACGC chr11:47642865-Alternative-T;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Variant A ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GACGTTGGTAAC CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAgacgttggtaacAGATCGAGACCCGACGC chr11:47642865-Variant-A;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative T ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GGCAATTAAGTC CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAggcaattaagtcAGATCGAGACCCGACGC chr11:47642865-Alternative-T;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative C ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GATTACGTTGGT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAgattacgttggtAGATCGAGACCCGACGC chr11:47642865-Alternative-C;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Variant A ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt ACGCACGGTACT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAacgcacggtactAGATCGAGACCCGACGC chr11:47642865-Variant-A;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Variant A ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt AGTACGGATGAA CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAagtacggatgaaAGATCGAGACCCGACGC chr11:47642865-Variant-A;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative T ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt AGACTGTCGCGA CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAagactgtcgcgaAGATCGAGACCCGACGC chr11:47642865-Alternative-T;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Variant A ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GGATCTTCGTGG CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacActttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAggatcttcgtggAGATCGAGACCCGACGC chr11:47642865-Variant-A;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Reference G ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GGCGATTACGAG CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAggcgattacgagAGATCGAGACCCGACGC chr11:47642865-Reference-G;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative T ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt CAGCGGTGTACT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacTctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAcagcggtgtactAGATCGAGACCCGACGC chr11:47642865-Alternative-T;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Reference G ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt CTCAATACTTCG CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAActcaatacttcgAGATCGAGACCCGACGC chr11:47642865-Reference-G;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative C ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt ATAACACGAGCA CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAataacacgagcaAGATCGAGACCCGACGC chr11:47642865-Alternative-C;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Reference G ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GACATAGTTAGG CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAgacatagttaggAGATCGAGACCCGACGC chr11:47642865-Reference-G;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Reference G ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt CTTGCATCGCAC CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAActtgcatcgcacAGATCGAGACCCGACGC chr11:47642865-Reference-G;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Alternative C ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt CTTGCGTGATAA CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacCctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAActtgcgtgataaAGATCGAGACCCGACGC chr11:47642865-Alternative-C;Patient-25 chr11:47642865-GA Inherited Patient-25 intronic MTCH2 0.000382 4.95e-05 0.18 5.58 -6.49 MTCH2 21340 Reference G ttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagctt GGTAGCCAATGT CGACGCGGTCTCTCTCTttatatatcactagtgctataaaataatgcaacaaagagcttctttatacGctttcttctacaatcttttaagaagtggaccccccttcaaaaacagcttAGAGGGAGACGGACGTCTCAATAAggtagccaatgtAGATCGAGACCCGACGC chr11:47642865-Reference-G;Patient-25 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Variant T gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct ATACCGCGACAG CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAataccgcgacagAGATCGAGACCCGACGC chr11:47811887-Variant-T;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Variant T gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct ACAGCGAGCCTA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAacagcgagcctaAGATCGAGACCCGACGC chr11:47811887-Variant-T;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Reference C gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct ATTGTGTCCGAA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAattgtgtccgaaAGATCGAGACCCGACGC chr11:47811887-Reference-C;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Reference C gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct CGATTCCGTATT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAcgattccgtattAGATCGAGACCCGACGC chr11:47811887-Reference-C;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Variant T gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct AAGCGTATGCCG CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAaagcgtatgccgAGATCGAGACCCGACGC chr11:47811887-Variant-T;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Variant T gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct ACGTCCATCGTC CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAacgtccatcgtcAGATCGAGACCCGACGC chr11:47811887-Variant-T;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Variant T gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct CGATACGTCAAG CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaTtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAcgatacgtcaagAGATCGAGACCCGACGC chr11:47811887-Variant-T;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Reference C gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GATGAGTAGCGG CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgatgagtagcggAGATCGAGACCCGACGC chr11:47811887-Reference-C;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative A gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct AAGACCAATGGT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAaagaccaatggtAGATCGAGACCCGACGC chr11:47811887-Alternative-A;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Reference C gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GTGACGCATCGT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgtgacgcatcgtAGATCGAGACCCGACGC chr11:47811887-Reference-C;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative G gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GTTGGTTGATGT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgttggttgatgtAGATCGAGACCCGACGC chr11:47811887-Alternative-G;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative A gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct CTATCTAGCCGT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAActatctagccgtAGATCGAGACCCGACGC chr11:47811887-Alternative-A;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative A gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct CTGCGGTTATAA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAActgcggttataaAGATCGAGACCCGACGC chr11:47811887-Alternative-A;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative G gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GCAAGCCTTGAA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgcaagccttgaaAGATCGAGACCCGACGC chr11:47811887-Alternative-G;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative A gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GCGACTTATCTT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgcgacttatcttAGATCGAGACCCGACGC chr11:47811887-Alternative-A;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Reference C gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GCCGGTATTCGA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaCtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgccggtattcgaAGATCGAGACCCGACGC chr11:47811887-Reference-C;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative A gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct CTCATTGATCCA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaAtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAActcattgatccaAGATCGAGACCCGACGC chr11:47811887-Alternative-A;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative G gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct GACGTAGCATAA CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAgacgtagcataaAGATCGAGACCCGACGC chr11:47811887-Alternative-G;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative G gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct AACGCTCGAGCT CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAaacgctcgagctAGATCGAGACCCGACGC chr11:47811887-Alternative-G;Patient-104 chr11:47811887-CT DeNovo Patient-104 intronic NUP160 NA 3.91e-05 -0.24 0.54 -0.7 NUP160 58131 Alternative G gtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacct ACGTCTGTCGAG CGACGCGGTCTCTCTCTgtcttgctcttgttgcccaggctggagtgcagtggcgcgatctcagcccaGtgcaacctcagcctcccgagttcaagcaattctcctgcctcagccacctAGAGGGAGACGGACGTCTCAATAAacgtctgtcgagAGATCGAGACCCGACGC chr11:47811887-Alternative-G;Patient-104 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Reference G gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GAGTTGTATTCG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgagttgtattcgAGATCGAGACCCGACGC chr11:47907960-Reference-G;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Reference G gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GAAGATGTAGGT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgaagatgtaggtAGATCGAGACCCGACGC chr11:47907960-Reference-G;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative T gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg ATTCGCAATACG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAattcgcaatacgAGATCGAGACCCGACGC chr11:47907960-Alternative-T;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Reference G gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg CACGTTGTCTTA CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAcacgttgtcttaAGATCGAGACCCGACGC chr11:47907960-Reference-G;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative T gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GCACGGTATATT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgcacggtatattAGATCGAGACCCGACGC chr11:47907960-Alternative-T;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Reference G gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GTGTTGGTATCA CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgtgttggtatcaAGATCGAGACCCGACGC chr11:47907960-Reference-G;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Reference G gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg CTTGAACTCTAC CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccGggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAActtgaactctacAGATCGAGACCCGACGC chr11:47907960-Reference-G;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative T gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg CGCCTTATCGAG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAcgccttatcgagAGATCGAGACCCGACGC chr11:47907960-Alternative-T;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative T gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg CAATGCTCGCGT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAcaatgctcgcgtAGATCGAGACCCGACGC chr11:47907960-Alternative-T;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Variant A gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg CTACGGAGACAT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAActacggagacatAGATCGAGACCCGACGC chr11:47907960-Variant-A;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative T gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GGATGTTCGTCG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccTggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAggatgttcgtcgAGATCGAGACCCGACGC chr11:47907960-Alternative-T;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Variant A gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg ATCGACGGCGTT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAatcgacggcgttAGATCGAGACCCGACGC chr11:47907960-Variant-A;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative C gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg AGAACCTGTCAT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAagaacctgtcatAGATCGAGACCCGACGC chr11:47907960-Alternative-C;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative C gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GCCAAGAAGTGT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgccaagaagtgtAGATCGAGACCCGACGC chr11:47907960-Alternative-C;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Variant A gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg GATGGCATGCAG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAgatggcatgcagAGATCGAGACCCGACGC chr11:47907960-Variant-A;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Variant A gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg AACCAAGGCAAG CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAaaccaaggcaagAGATCGAGACCCGACGC chr11:47907960-Variant-A;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative C gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg ACTGTTCAACCT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAactgttcaacctAGATCGAGACCCGACGC chr11:47907960-Alternative-C;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Variant A gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg ACATGTTGGACA CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccAggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAacatgttggacaAGATCGAGACCCGACGC chr11:47907960-Variant-A;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative C gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg ATCGACGCGCAA CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAatcgacgcgcaaAGATCGAGACCCGACGC chr11:47907960-Alternative-C;Patient-108 chr11:47907960-GA DeNovo Patient-108 intergenic 0.000988 0.001383764 -0.26 0.49 -1.62 NUP160 37940 Alternative C gtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtg AGCTTACGGCGT CGACGCGGTCTCTCTCTgtagtgatgcctcatagttatgtagtaagttataaattaatttctcagccCggcacggtggctcaggcctgtaatcccagcattttaggaggctgaggtgAGAGGGAGACGGACGTCTCAATAAagcttacggcgtAGATCGAGACCCGACGC chr11:47907960-Alternative-C;Patient-108 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative C catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt AGCGCACGACTA CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAagcgcacgactaAGATCGAGACCCGACGC chr11:47967976-Alternative-C;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative C catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GTTAGCCTATGT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgttagcctatgtAGATCGAGACCCGACGC chr11:47967976-Alternative-C;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Variant G catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GTATTAGTCGAC CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgtattagtcgacAGATCGAGACCCGACGC chr11:47967976-Variant-G;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative A catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GAATATGTGCAG CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgaatatgtgcagAGATCGAGACCCGACGC chr11:47967976-Alternative-A;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative A catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt ACCGCCATTACG CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAaccgccattacgAGATCGAGACCCGACGC chr11:47967976-Alternative-A;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative A catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt CGCACTCTTAGT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAcgcactcttagtAGATCGAGACCCGACGC chr11:47967976-Alternative-A;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative A catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt AATGGTCGAGAA CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAaatggtcgagaaAGATCGAGACCCGACGC chr11:47967976-Alternative-A;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Variant G catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GATGGTACGACG CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgatggtacgacgAGATCGAGACCCGACGC chr11:47967976-Variant-G;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Variant G catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GTGCTAGTAAGA CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgtgctagtaagaAGATCGAGACCCGACGC chr11:47967976-Variant-G;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative C catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt ACAATAGTGGCA CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAacaatagtggcaAGATCGAGACCCGACGC chr11:47967976-Alternative-C;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Reference T catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt ATACCGTAACGC CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAataccgtaacgcAGATCGAGACCCGACGC chr11:47967976-Reference-T;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative C catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GTGACGCAACCT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgtgacgcaacctAGATCGAGACCCGACGC chr11:47967976-Alternative-C;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Variant G catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt AGATCAGTCGGC CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAagatcagtcggcAGATCGAGACCCGACGC chr11:47967976-Variant-G;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Reference T catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt AGTTAGGACGGC CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAagttaggacggcAGATCGAGACCCGACGC chr11:47967976-Reference-T;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Reference T catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GTGTTCAGCGAC CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgtgttcagcgacAGATCGAGACCCGACGC chr11:47967976-Reference-T;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative A catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt CGTGTCTACAGG CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgAggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAcgtgtctacaggAGATCGAGACCCGACGC chr11:47967976-Alternative-A;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Alternative C catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GGCTGACCAAGT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgCggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAggctgaccaagtAGATCGAGACCCGACGC chr11:47967976-Alternative-C;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Variant G catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GCCAGAGGTTCT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgGggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgccagaggttctAGATCGAGACCCGACGC chr11:47967976-Variant-G;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Reference T catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GGTAACTATCGT CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAggtaactatcgtAGATCGAGACCCGACGC chr11:47967976-Reference-T;Patient-37 chr11:47967976-TG Inherited Patient-37 intergenic 0.00035 0.00256 0.08 3.99 0.55 PTPRJ 34133 Reference T catgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggt GACATCTTCCTA CGACGCGGTCTCTCTCTcatgtggctgtctgaggcaaaagcattctaagcatagaaaacaacaaatgTggcggctaggcgcggtggctcacacctgcagcccagaactttgggaggtAGAGGGAGACGGACGTCTCAATAAgacatcttcctaAGATCGAGACCCGACGC chr11:47967976-Reference-T;Patient-37 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Variant G acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtc AATGCCAATCGT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAaatgccaatcgtAGATCGAGACCCGACGC chr11:5312631-Variant-G;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative T acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtc ACGACCATCAGT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAacgaccatcagtAGATCGAGACCCGACGC chr11:5312631-Alternative-T;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Reference C acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GCAATCCGTAAC CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgcaatccgtaacAGATCGAGACCCGACGC chr11:5312631-Reference-C;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative T acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GACAACGGTACT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgacaacggtactAGATCGAGACCCGACGC chr11:5312631-Alternative-T;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative T acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GACGCAGCTTGT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgacgcagcttgtAGATCGAGACCCGACGC chr11:5312631-Alternative-T;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Variant G acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GGTTGATAGACA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAggttgatagacaAGATCGAGACCCGACGC chr11:5312631-Variant-G;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Reference C acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtc ATTCGTTCCGAT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAattcgttccgatAGATCGAGACCCGACGC chr11:5312631-Reference-C;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Reference C acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtc AGATATGCCAAC CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAagatatgccaacAGATCGAGACCCGACGC chr11:5312631-Reference-C;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative T acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtc AGTGTTAAGGAC CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAagtgttaaggacAGATCGAGACCCGACGC chr11:5312631-Alternative-T;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative T acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtc AGGCCGTAAGCA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcTaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAaggccgtaagcaAGATCGAGACCCGACGC chr11:5312631-Alternative-T;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative A acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtc CGATGGAGAACT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAcgatggagaactAGATCGAGACCCGACGC chr11:5312631-Alternative-A;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative A acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GCGATTGGACGA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgcgattggacgaAGATCGAGACCCGACGC chr11:5312631-Alternative-A;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Variant G acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GATCGGCGCTTA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgatcggcgcttaAGATCGAGACCCGACGC chr11:5312631-Variant-G;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative A acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtc CGAAGTCTATCA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAcgaagtctatcaAGATCGAGACCCGACGC chr11:5312631-Alternative-A;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Variant G acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GGTAGCTCGGAA CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAggtagctcggaaAGATCGAGACCCGACGC chr11:5312631-Variant-G;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Variant G acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GACAACACGACG CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcGaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAgacaacacgacgAGATCGAGACCCGACGC chr11:5312631-Variant-G;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Reference C acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtc GGACGGACGATT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAggacggacgattAGATCGAGACCCGACGC chr11:5312631-Reference-C;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative A acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtc ATCGCGCTCAGT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAatcgcgctcagtAGATCGAGACCCGACGC chr11:5312631-Alternative-A;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Reference C acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtc CAAGCGTCATGG CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcCaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAcaagcgtcatggAGATCGAGACCCGACGC chr11:5312631-Reference-C;Patient-41 chr11:5312631-CG DeNovo Patient-41 intergenic NA 0.000513 0.24 6.36 2.2 HBE1 21257 Alternative A acccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtc ATATGACGGAGT CGACGCGGTCTCTCTCTacccaccttcaatcaaaagggctccttaacaacttccttgcttggggctcAaccatcttggaccattagctccacaggtatcttcttccctctagtggtcAGAGGGAGACGGACGTCTCAATAAatatgacggagtAGATCGAGACCCGACGC chr11:5312631-Alternative-A;Patient-41 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative T ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacat ACGGCGTACGAA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAacggcgtacgaaAGATCGAGACCCGACGC chr11:5519076-Alternative-T;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative T ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacat GGCTTCGGTAAC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAggcttcggtaacAGATCGAGACCCGACGC chr11:5519076-Alternative-T;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Reference G ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacat CGTCACGGACTT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAcgtcacggacttAGATCGAGACCCGACGC chr11:5519076-Reference-G;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Variant A ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacat GCACGACATCAA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAgcacgacatcaaAGATCGAGACCCGACGC chr11:5519076-Variant-A;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative T ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacat AACAACGCATGT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAaacaacgcatgtAGATCGAGACCCGACGC chr11:5519076-Alternative-T;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Variant A ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacat GGTGTCGACATC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAggtgtcgacatcAGATCGAGACCCGACGC chr11:5519076-Variant-A;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Reference G ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacat ATCCGATACAGG CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAatccgatacaggAGATCGAGACCCGACGC chr11:5519076-Reference-G;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Reference G ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacat GGTCAATTACCA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAggtcaattaccaAGATCGAGACCCGACGC chr11:5519076-Reference-G;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative T ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacat AGATGAGTACAC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAagatgagtacacAGATCGAGACCCGACGC chr11:5519076-Alternative-T;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative C ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacat GGTGACATCACT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAggtgacatcactAGATCGAGACCCGACGC chr11:5519076-Alternative-C;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative T ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacat GTTCGAGGCTGT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagTctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAgttcgaggctgtAGATCGAGACCCGACGC chr11:5519076-Alternative-T;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative C ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacat CAGAGGTGATAC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAcagaggtgatacAGATCGAGACCCGACGC chr11:5519076-Alternative-C;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Reference G ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacat GTTCTAACCTAC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAgttctaacctacAGATCGAGACCCGACGC chr11:5519076-Reference-G;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Variant A ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacat ACTGGCGATCCT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAactggcgatcctAGATCGAGACCCGACGC chr11:5519076-Variant-A;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Reference G ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacat AGACTATGTACG CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagGctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAagactatgtacgAGATCGAGACCCGACGC chr11:5519076-Reference-G;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative C ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacat GATAGCCGGCTT CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAgatagccggcttAGATCGAGACCCGACGC chr11:5519076-Alternative-C;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Variant A ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacat CGTTGGTGGCTA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAcgttggtggctaAGATCGAGACCCGACGC chr11:5519076-Variant-A;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative C ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacat GACTGGCGTACA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAgactggcgtacaAGATCGAGACCCGACGC chr11:5519076-Alternative-C;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Alternative C ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacat CGTTCGGAATTA CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagCctcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAcgttcggaattaAGATCGAGACCCGACGC chr11:5519076-Alternative-C;Patient-61 chr11:5519076-GA Inherited Patient-61 intergenic NA 0.000513 -0.09 1.49 0.36 UBQLNL 18879 Variant A ccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacat AGGCGCACATTC CGACGCGGTCTCTCTCTccatggagtttctcagcagctttgccatcacacacagtcttagcagagagActcttaactatacacacctttctccaggagcataggtatgacatcacatAGAGGGAGACGGACGTCTCAATAAaggcgcacattcAGATCGAGACCCGACGC chr11:5519076-Variant-A;Patient-61 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative G atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CACAATACGTCA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcacaatacgtcaAGATCGAGACCCGACGC chr11:57158699-Alternative-G;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Reference T atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag ATCGAACGTGCG CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAatcgaacgtgcgAGATCGAGACCCGACGC chr11:57158699-Reference-T;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative G atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag AATGCTCGACGC CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAaatgctcgacgcAGATCGAGACCCGACGC chr11:57158699-Alternative-G;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative G atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GCGACAACAACT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAgcgacaacaactAGATCGAGACCCGACGC chr11:57158699-Alternative-G;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative G atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GCATCTGCCGAT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAgcatctgccgatAGATCGAGACCCGACGC chr11:57158699-Alternative-G;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Reference T atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag ATCGCTCGACGA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAatcgctcgacgaAGATCGAGACCCGACGC chr11:57158699-Reference-T;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Reference T atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CGCTATGTCCGA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcgctatgtccgaAGATCGAGACCCGACGC chr11:57158699-Reference-T;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Reference T atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag AGTAATCCGAAC CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAagtaatccgaacAGATCGAGACCCGACGC chr11:57158699-Reference-T;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative G atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CAGATAGGCGGT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgGttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcagataggcggtAGATCGAGACCCGACGC chr11:57158699-Alternative-G;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Reference T atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GGCCAATTGATA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgTttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAggccaattgataAGATCGAGACCCGACGC chr11:57158699-Reference-T;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Variant C atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag AATCAACGAGCA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAaatcaacgagcaAGATCGAGACCCGACGC chr11:57158699-Variant-C;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Variant C atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CAACTAAGACGA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcaactaagacgaAGATCGAGACCCGACGC chr11:57158699-Variant-C;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative A atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GGCTACGATTCG CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAggctacgattcgAGATCGAGACCCGACGC chr11:57158699-Alternative-A;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative A atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag AGCCGCCGTTAT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAagccgccgttatAGATCGAGACCCGACGC chr11:57158699-Alternative-A;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative A atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GCAACGAGTGGT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAgcaacgagtggtAGATCGAGACCCGACGC chr11:57158699-Alternative-A;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Variant C atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GACGACGCAACA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAgacgacgcaacaAGATCGAGACCCGACGC chr11:57158699-Variant-C;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative A atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag ATTGTAGGCCTA CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAattgtaggcctaAGATCGAGACCCGACGC chr11:57158699-Alternative-A;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Variant C atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CAATGTCGACAT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcaatgtcgacatAGATCGAGACCCGACGC chr11:57158699-Variant-C;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Variant C atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag CGGCAGATAGGT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgCttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAcggcagataggtAGATCGAGACCCGACGC chr11:57158699-Variant-C;Patient-27 chr11:57158699-TC DeNovo Patient-27 intergenic 6.4e-05 0.000314 -0.26 0.48 -3.51 SSRP1 55347 Alternative A atggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttag GTGCTCTTAGTT CGACGCGGTCTCTCTCTatggctatgaaaagaagagctggacctgtatctataaacctgaagagatgAttctgtgacatgaagtgaaaaaaggcaagatactgaggaaagtatttagAGAGGGAGACGGACGTCTCAATAAgtgctcttagttAGATCGAGACCCGACGC chr11:57158699-Alternative-A;Patient-27 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Variant A caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctattt GGAACATTGCGG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAggaacattgcggAGATCGAGACCCGACGC chr11:57164161-Variant-A;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Variant A caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctattt CTCTCACGATGG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAActctcacgatggAGATCGAGACCCGACGC chr11:57164161-Variant-A;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative C caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctattt ATCTGATGGTGT CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAatctgatggtgtAGATCGAGACCCGACGC chr11:57164161-Alternative-C;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative G caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctattt ACTGGTATAAGG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAactggtataaggAGATCGAGACCCGACGC chr11:57164161-Alternative-G;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative C caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctattt GACGCTGACACT CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAgacgctgacactAGATCGAGACCCGACGC chr11:57164161-Alternative-C;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative C caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctattt CGGATGATAACA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAcggatgataacaAGATCGAGACCCGACGC chr11:57164161-Alternative-C;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative C caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctattt GTCGCCGTATGA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAgtcgccgtatgaAGATCGAGACCCGACGC chr11:57164161-Alternative-C;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative C caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctattt GTAGTGGTGCGA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctCctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAgtagtggtgcgaAGATCGAGACCCGACGC chr11:57164161-Alternative-C;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Variant A caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctattt CGACTCTAATGA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAcgactctaatgaAGATCGAGACCCGACGC chr11:57164161-Variant-A;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative G caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctattt CAACCTGTTCAT CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAcaacctgttcatAGATCGAGACCCGACGC chr11:57164161-Alternative-G;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative G caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctattt GGAGTTCCAGTC CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAggagttccagtcAGATCGAGACCCGACGC chr11:57164161-Alternative-G;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative G caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctattt AATAAGGTGGAG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAaataaggtggagAGATCGAGACCCGACGC chr11:57164161-Alternative-G;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Variant A caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctattt ACTAGATCTCGA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAactagatctcgaAGATCGAGACCCGACGC chr11:57164161-Variant-A;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Reference T caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctattt CGACTTACAACA CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAcgacttacaacaAGATCGAGACCCGACGC chr11:57164161-Reference-T;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Reference T caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctattt GCAGTTGACCGT CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAgcagttgaccgtAGATCGAGACCCGACGC chr11:57164161-Reference-T;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Reference T caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctattt CAGCTTAGATAC CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAcagcttagatacAGATCGAGACCCGACGC chr11:57164161-Reference-T;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Reference T caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctattt AACCGCTGGAAC CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAaaccgctggaacAGATCGAGACCCGACGC chr11:57164161-Reference-T;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Reference T caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctattt AGAACCGTGACG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctTctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAagaaccgtgacgAGATCGAGACCCGACGC chr11:57164161-Reference-T;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Variant A caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctattt CTGTTATCTGAC CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctActccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAActgttatctgacAGATCGAGACCCGACGC chr11:57164161-Variant-A;Patient-53 chr11:57164161-TA DeNovo Patient-53 intergenic 0.000287 0.000513 0.17 5.42 0.16 SSRP1 60809 Alternative G caagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctattt AAGTATCAAGCG CGACGCGGTCTCTCTCTcaagctaaagcatttgtactggttaaaaggccacctcctcagataagcctGctccgagaactctttctaaaagaagcccacccaccccactctcctatttAGAGGGAGACGGACGTCTCAATAAaagtatcaagcgAGATCGAGACCCGACGC chr11:57164161-Alternative-G;Patient-53 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Reference A ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt AACCAACGACGC CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAaaccaacgacgcAGATCGAGACCCGACGC chr11:57365182-Reference-A;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Variant T ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt ACGGTAGCGAAG CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAacggtagcgaagAGATCGAGACCCGACGC chr11:57365182-Variant-T;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Reference A ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt ACACTTCCTAGT CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAacacttcctagtAGATCGAGACCCGACGC chr11:57365182-Reference-A;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Variant T ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GGTGACGAAGTC CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAggtgacgaagtcAGATCGAGACCCGACGC chr11:57365182-Variant-T;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Variant T ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CGTTGATTGGCG CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcgttgattggcgAGATCGAGACCCGACGC chr11:57365182-Variant-T;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Variant T ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CGTATCCAACGG CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcgtatccaacggAGATCGAGACCCGACGC chr11:57365182-Variant-T;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Variant T ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GGTGCGTTGAGA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgTccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAggtgcgttgagaAGATCGAGACCCGACGC chr11:57365182-Variant-T;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative G ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GGTGACGTGACA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAggtgacgtgacaAGATCGAGACCCGACGC chr11:57365182-Alternative-G;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative G ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GAGTACGAAGAA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAgagtacgaagaaAGATCGAGACCCGACGC chr11:57365182-Alternative-G;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Reference A ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GAATCGCGACAC CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAgaatcgcgacacAGATCGAGACCCGACGC chr11:57365182-Reference-A;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Reference A ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CGTGCTGGACTA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcgtgctggactaAGATCGAGACCCGACGC chr11:57365182-Reference-A;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Reference A ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt AATGTAGGTCCT CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgAccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAaatgtaggtcctAGATCGAGACCCGACGC chr11:57365182-Reference-A;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative C ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CTTGACAGGTCG CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAActtgacaggtcgAGATCGAGACCCGACGC chr11:57365182-Alternative-C;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative G ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CAGCTATTAGCA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcagctattagcaAGATCGAGACCCGACGC chr11:57365182-Alternative-G;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative G ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CAACACCGTACC CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcaacaccgtaccAGATCGAGACCCGACGC chr11:57365182-Alternative-G;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative G ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt ATTGCGTAACGA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgGccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAattgcgtaacgaAGATCGAGACCCGACGC chr11:57365182-Alternative-G;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative C ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt AGCCGTATCTTA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAagccgtatcttaAGATCGAGACCCGACGC chr11:57365182-Alternative-C;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative C ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GGAAGACGACGA CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAggaagacgacgaAGATCGAGACCCGACGC chr11:57365182-Alternative-C;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative C ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt GTATCCGTATGT CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAgtatccgtatgtAGATCGAGACCCGACGC chr11:57365182-Alternative-C;Patient-101 chr11:57365182-AT DeNovo Patient-101 5 prime UTR SERPING1 0.000256 0.000639 0.8 11.87 2.34 SERPING1 154 Alternative C ccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggt CATCTTCACCGG CGACGCGGTCTCTCTCTccctgaccctgggggactctctactcagtctgcactggagctgcctggtgCccagaagtttggagtaggtttggtgctgggcaggggtggggagtagggtAGAGGGAGACGGACGTCTCAATAAcatcttcaccggAGATCGAGACCCGACGC chr11:57365182-Alternative-C;Patient-101 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative A atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GGTTAGCTTCTT CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAggttagcttcttAGATCGAGACCCGACGC chr11:58336273-Alternative-A;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative T atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc ATCGATACAACG CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAatcgatacaacgAGATCGAGACCCGACGC chr11:58336273-Alternative-T;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative T atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GTTCACCAATGA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAgttcaccaatgaAGATCGAGACCCGACGC chr11:58336273-Alternative-T;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative T atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AAGGTGTCGTCC CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAaaggtgtcgtccAGATCGAGACCCGACGC chr11:58336273-Alternative-T;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative T atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc ACGATTGGTGAA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAacgattggtgaaAGATCGAGACCCGACGC chr11:58336273-Alternative-T;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative A atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AAGCGGTGGTCT CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAaagcggtggtctAGATCGAGACCCGACGC chr11:58336273-Alternative-A;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative T atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc CGGTGTTGCATC CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaTccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAcggtgttgcatcAGATCGAGACCCGACGC chr11:58336273-Alternative-T;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative A atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc CGTCAATCGCAC CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAcgtcaatcgcacAGATCGAGACCCGACGC chr11:58336273-Alternative-A;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Variant G atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc ATACAACGATCG CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAatacaacgatcgAGATCGAGACCCGACGC chr11:58336273-Variant-G;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Variant G atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc CTGAGTGGATAA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAActgagtggataaAGATCGAGACCCGACGC chr11:58336273-Variant-G;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Variant G atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GACGAGACTCGA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAgacgagactcgaAGATCGAGACCCGACGC chr11:58336273-Variant-G;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Variant G atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AGGCTTGCATCG CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAaggcttgcatcgAGATCGAGACCCGACGC chr11:58336273-Variant-G;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Reference C atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc ACGAGTTCAAGA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAacgagttcaagaAGATCGAGACCCGACGC chr11:58336273-Reference-C;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Variant G atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AGCTTAACATCG CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaGccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAagcttaacatcgAGATCGAGACCCGACGC chr11:58336273-Variant-G;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Reference C atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc ACGACTAATAGG CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAacgactaataggAGATCGAGACCCGACGC chr11:58336273-Reference-C;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Reference C atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GATTGCCGATGC CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAgattgccgatgcAGATCGAGACCCGACGC chr11:58336273-Reference-C;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative A atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AATACGCCTTGA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAaatacgccttgaAGATCGAGACCCGACGC chr11:58336273-Alternative-A;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Reference C atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc AGAGGTACGCGA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAagaggtacgcgaAGATCGAGACCCGACGC chr11:58336273-Reference-C;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Alternative A atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GTAACCGGTACA CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaAccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAgtaaccggtacaAGATCGAGACCCGACGC chr11:58336273-Alternative-A;Patient-61 chr11:58336273-CG Inherited Patient-61 intronic LPXN NA 4.95e-05 -0.21 0.65 -0.48 LPXN 9365 Reference C atctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatc GTGTAGCCGTCT CGACGCGGTCTCTCTCTatctggggtaaaaagtaaagttaataggatgtgagaaaaacaagcataaaCccaggactctttcaggtaaaccaggatatatggtcaccccagaaagatcAGAGGGAGACGGACGTCTCAATAAgtgtagccgtctAGATCGAGACCCGACGC chr11:58336273-Reference-C;Patient-61 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Reference G gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CAGATCCGCAGT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAcagatccgcagtAGATCGAGACCCGACGC chr11:58621132-Reference-G;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Reference G gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt ACAATGAGCACA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAacaatgagcacaAGATCGAGACCCGACGC chr11:58621132-Reference-G;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Reference G gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt AAGGTGTATCAG CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAaaggtgtatcagAGATCGAGACCCGACGC chr11:58621132-Reference-G;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Reference G gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt GTTATGCCGCAG CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAgttatgccgcagAGATCGAGACCCGACGC chr11:58621132-Reference-G;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Variant A gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CGTAAGAATCAG CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAcgtaagaatcagAGATCGAGACCCGACGC chr11:58621132-Variant-A;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Variant A gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CAAGTTGTAGTC CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAcaagttgtagtcAGATCGAGACCCGACGC chr11:58621132-Variant-A;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Reference G gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CTTACAACCTAC CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcGtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAActtacaacctacAGATCGAGACCCGACGC chr11:58621132-Reference-G;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative T gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt AGCTCGATACTA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAagctcgatactaAGATCGAGACCCGACGC chr11:58621132-Alternative-T;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative T gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CACGTAGCGCAA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAcacgtagcgcaaAGATCGAGACCCGACGC chr11:58621132-Alternative-T;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative T gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CTAAGCATACCA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAActaagcataccaAGATCGAGACCCGACGC chr11:58621132-Alternative-T;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Variant A gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt GGTATCGTACTT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAggtatcgtacttAGATCGAGACCCGACGC chr11:58621132-Variant-A;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Variant A gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt AATGTGCAGCTT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAaatgtgcagcttAGATCGAGACCCGACGC chr11:58621132-Variant-A;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative T gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt ACTCGGCAATCG CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAactcggcaatcgAGATCGAGACCCGACGC chr11:58621132-Alternative-T;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative C gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CGGATAAGTACA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAcggataagtacaAGATCGAGACCCGACGC chr11:58621132-Alternative-C;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative T gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt GCCGTAGATCGA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcTtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAgccgtagatcgaAGATCGAGACCCGACGC chr11:58621132-Alternative-T;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Variant A gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt GGTAATGATGCT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcAtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAggtaatgatgctAGATCGAGACCCGACGC chr11:58621132-Variant-A;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative C gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt GTAGTGGTGTGG CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAgtagtggtgtggAGATCGAGACCCGACGC chr11:58621132-Alternative-C;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative C gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt ACTGCGGTCCTA CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAactgcggtcctaAGATCGAGACCCGACGC chr11:58621132-Alternative-C;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative C gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt CTAACTCTCTGT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAActaactctctgtAGATCGAGACCCGACGC chr11:58621132-Alternative-C;Patient-55 chr11:58621132-GA Inherited Patient-55 intergenic NA 0.000513 0.05 3.37 0.61 GLYATL1 73969 Alternative C gttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaatt ACACGTAAGTCT CGACGCGGTCTCTCTCTgttttcaaaattgggactctgaaacaaatctatgtccttatatttttttcCtagtgaatacgttttctaattattaactatttatttacaaatgaaaattAGAGGGAGACGGACGTCTCAATAAacacgtaagtctAGATCGAGACCCGACGC chr11:58621132-Alternative-C;Patient-55 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative A aattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ATAGATCGGCAT CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAatagatcggcatAGATCGAGACCCGACGC chr11:58869648-Alternative-A;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Reference C aattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ATTGGTGGACTT CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAattggtggacttAGATCGAGACCCGACGC chr11:58869648-Reference-C;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative A aattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc CGCATACTCAGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAcgcatactcagaAGATCGAGACCCGACGC chr11:58869648-Alternative-A;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Reference C aattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ATACGCGGCCAA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAatacgcggccaaAGATCGAGACCCGACGC chr11:58869648-Reference-C;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative A aattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GTCTCTCGACGT CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgtctctcgacgtAGATCGAGACCCGACGC chr11:58869648-Alternative-A;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Reference C aattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc CGTACCACTTAA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAcgtaccacttaaAGATCGAGACCCGACGC chr11:58869648-Reference-C;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Variant T aattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GACGCCAAGTAC CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgacgccaagtacAGATCGAGACCCGACGC chr11:58869648-Variant-T;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Variant T aattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc AGTACGGATAGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAagtacggatagaAGATCGAGACCCGACGC chr11:58869648-Variant-T;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Reference C aattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc CACGTGATTAGT CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAcacgtgattagtAGATCGAGACCCGACGC chr11:58869648-Reference-C;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative A aattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ACATAACGACGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAacataacgacgaAGATCGAGACCCGACGC chr11:58869648-Alternative-A;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Variant T aattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ACAATGGACGAG CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAacaatggacgagAGATCGAGACCCGACGC chr11:58869648-Variant-T;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Reference C aattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GAGTCCTCTTCG CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaCagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgagtcctcttcgAGATCGAGACCCGACGC chr11:58869648-Reference-C;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative A aattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GTCTAGCGACGT CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaAagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgtctagcgacgtAGATCGAGACCCGACGC chr11:58869648-Alternative-A;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Variant T aattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc AGGTAGGATGAA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAaggtaggatgaaAGATCGAGACCCGACGC chr11:58869648-Variant-T;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Variant T aattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GGCCAACAGCTA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaTagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAggccaacagctaAGATCGAGACCCGACGC chr11:58869648-Variant-T;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative G aattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ACCTGGCGTCTA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAacctggcgtctaAGATCGAGACCCGACGC chr11:58869648-Alternative-G;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative G aattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GAATTGCCATGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgaattgccatgaAGATCGAGACCCGACGC chr11:58869648-Alternative-G;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative G aattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc ACAACTCCTACC CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAacaactcctaccAGATCGAGACCCGACGC chr11:58869648-Alternative-G;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative G aattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc AGGTTAAGGAGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAaggttaaggagaAGATCGAGACCCGACGC chr11:58869648-Alternative-G;Patient-84 chr11:58869648-CT DeNovo Patient-84 intergenic NA 0.000513 0.3 7.2 0.34 FAM111A 40669 Alternative G aattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatccc GAGTACGGTCGA CGACGCGGTCTCTCTCTaattgacaaagagggttgagccactacgagtgggagttaccttggactaaGagttgtatcttcagcgagcacatgtcctggaatctcccacgcccatcccAGAGGGAGACGGACGTCTCAATAAgagtacggtcgaAGATCGAGACCCGACGC chr11:58869648-Alternative-G;Patient-84 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative A ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GGATCGCCTTGA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAggatcgccttgaAGATCGAGACCCGACGC chr11:58937362-Alternative-A;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative C ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GCAGAATCAGGT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgcagaatcaggtAGATCGAGACCCGACGC chr11:58937362-Alternative-C;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative A ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GTGCTAGGAGAT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgtgctaggagatAGATCGAGACCCGACGC chr11:58937362-Alternative-A;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative A ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GCGTCTTCGTCA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgcgtcttcgtcaAGATCGAGACCCGACGC chr11:58937362-Alternative-A;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative A ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa CATCGACACCTT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAcatcgacaccttAGATCGAGACCCGACGC chr11:58937362-Alternative-A;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative A ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa CGGACGCGTATA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatAttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAcggacgcgtataAGATCGAGACCCGACGC chr11:58937362-Alternative-A;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative C ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa AGCGCATCGTGA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAagcgcatcgtgaAGATCGAGACCCGACGC chr11:58937362-Alternative-C;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative C ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa ATCCGCTATCGG CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAatccgctatcggAGATCGAGACCCGACGC chr11:58937362-Alternative-C;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative C ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GAGATGGACGAT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgagatggacgatAGATCGAGACCCGACGC chr11:58937362-Alternative-C;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Variant T ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GATAACGACCGG CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgataacgaccggAGATCGAGACCCGACGC chr11:58937362-Variant-T;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Variant T ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa AGCAAGCGCTGT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAagcaagcgctgtAGATCGAGACCCGACGC chr11:58937362-Variant-T;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Alternative C ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa CAGGTCATCACA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatCttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAcaggtcatcacaAGATCGAGACCCGACGC chr11:58937362-Alternative-C;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Variant T ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GTGACTATACGT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgtgactatacgtAGATCGAGACCCGACGC chr11:58937362-Variant-T;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Reference G ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa ACTGCTACGATT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAactgctacgattAGATCGAGACCCGACGC chr11:58937362-Reference-G;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Reference G ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GGCTTGGTTGAC CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAggcttggttgacAGATCGAGACCCGACGC chr11:58937362-Reference-G;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Reference G ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa CGCGTGTTCGAA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAcgcgtgttcgaaAGATCGAGACCCGACGC chr11:58937362-Reference-G;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Variant T ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GGATGCCGGATA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAggatgccggataAGATCGAGACCCGACGC chr11:58937362-Variant-T;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Variant T ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa AAGGACGTCGAC CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatTttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAaaggacgtcgacAGATCGAGACCCGACGC chr11:58937362-Variant-T;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Reference G ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa GCACGCATTGAA CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAgcacgcattgaaAGATCGAGACCCGACGC chr11:58937362-Reference-G;Patient-88 chr11:58937362-GT DeNovo Patient-88 intergenic NA 0.000513 0 2.62 0.33 DTX4 2449 Reference G ggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaa AAGGAGTAGGAT CGACGCGGTCTCTCTCTggcattgtcttacccttcttagtgtctcaaactagatcctgttcagacatGttataacaagttagtatgagtttatttgggtgcaaaaaaacaatttgaaAGAGGGAGACGGACGTCTCAATAAaaggagtaggatAGATCGAGACCCGACGC chr11:58937362-Reference-G;Patient-88 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative C gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc ATCTGGTTCTAC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAatctggttctacAGATCGAGACCCGACGC chr11:59306387-Alternative-C;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Variant G gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc GATCATGTCTGA CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAgatcatgtctgaAGATCGAGACCCGACGC chr11:59306387-Variant-G;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Variant G gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc AATAACGCACCT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAaataacgcacctAGATCGAGACCCGACGC chr11:59306387-Variant-G;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative T gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CAACGTTGAACA CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcaacgttgaacaAGATCGAGACCCGACGC chr11:59306387-Alternative-T;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Variant G gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CTCGTGTCACGT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAActcgtgtcacgtAGATCGAGACCCGACGC chr11:59306387-Variant-G;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative T gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CTGAGACAAGAT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAActgagacaagatAGATCGAGACCCGACGC chr11:59306387-Alternative-T;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Variant G gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CATCTTCGACAT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcatcttcgacatAGATCGAGACCCGACGC chr11:59306387-Variant-G;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative C gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc GCCAATGGCATC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAgccaatggcatcAGATCGAGACCCGACGC chr11:59306387-Alternative-C;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative T gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CAGCGCGTCATT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcagcgcgtcattAGATCGAGACCCGACGC chr11:59306387-Alternative-T;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative T gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CACGAAGGATAC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcacgaaggatacAGATCGAGACCCGACGC chr11:59306387-Alternative-T;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative T gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CAACCACGTGTT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctTttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcaaccacgtgttAGATCGAGACCCGACGC chr11:59306387-Alternative-T;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Variant G gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc AGTAGATGATGC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctGttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAagtagatgatgcAGATCGAGACCCGACGC chr11:59306387-Variant-G;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Reference A gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CTAGCTTGTCTA CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAActagcttgtctaAGATCGAGACCCGACGC chr11:59306387-Reference-A;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative C gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc ACGACAGCCAAG CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAacgacagccaagAGATCGAGACCCGACGC chr11:59306387-Alternative-C;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Reference A gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CATTACCGCACG CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcattaccgcacgAGATCGAGACCCGACGC chr11:59306387-Reference-A;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative C gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CACAGAGGTTCT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAcacagaggttctAGATCGAGACCCGACGC chr11:59306387-Alternative-C;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Alternative C gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc AACGATGCTTGT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctCttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAaacgatgcttgtAGATCGAGACCCGACGC chr11:59306387-Alternative-C;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Reference A gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc CTACGGATGCAC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAActacggatgcacAGATCGAGACCCGACGC chr11:59306387-Reference-A;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Reference A gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc AGAAGATCGACC CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAagaagatcgaccAGATCGAGACCCGACGC chr11:59306387-Reference-A;Patient-21 chr11:59306387-AG DeNovo Patient-21 intergenic NA 0.000513 0.16 5.31 0.34 OSBP 77229 Reference A gaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactacc ACACCGCGTCAT CGACGCGGTCTCTCTCTgaaaagggaacccttgaatactgttggtgagaatgtaaattagtatagctAttatggaaaacagtatggagattcctcaaaaattaaaaatagaactaccAGAGGGAGACGGACGTCTCAATAAacaccgcgtcatAGATCGAGACCCGACGC chr11:59306387-Reference-A;Patient-21 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative G tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgta GATGTTCGTGAT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAgatgttcgtgatAGATCGAGACCCGACGC chr11:59439792-Alternative-G;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative G tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgta AACTCCGCATGC CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAaactccgcatgcAGATCGAGACCCGACGC chr11:59439792-Alternative-G;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative G tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgta AAGGACTCGGAC CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAaaggactcggacAGATCGAGACCCGACGC chr11:59439792-Alternative-G;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Reference T tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgta GCGTTCAGATAT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAgcgttcagatatAGATCGAGACCCGACGC chr11:59439792-Reference-T;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative A tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgta CAGCAGTGCAAG CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcagcagtgcaagAGATCGAGACCCGACGC chr11:59439792-Alternative-A;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Reference T tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgta GATTACGGCGTC CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAgattacggcgtcAGATCGAGACCCGACGC chr11:59439792-Reference-T;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Reference T tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgta ATCACGCCATCG CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAatcacgccatcgAGATCGAGACCCGACGC chr11:59439792-Reference-T;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative A tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgta GGCTAGCTGTCA CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAggctagctgtcaAGATCGAGACCCGACGC chr11:59439792-Alternative-A;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative A tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgta AAGACGCACGAC CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAaagacgcacgacAGATCGAGACCCGACGC chr11:59439792-Alternative-A;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Reference T tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgta CATCTATTGTGG CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcatctattgtggAGATCGAGACCCGACGC chr11:59439792-Reference-T;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Variant C tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgta CTGTGGACGACT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAActgtggacgactAGATCGAGACCCGACGC chr11:59439792-Variant-C;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative A tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgta CGACAGACGATT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcgacagacgattAGATCGAGACCCGACGC chr11:59439792-Alternative-A;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Variant C tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgta GTACTCCTACAT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAgtactcctacatAGATCGAGACCCGACGC chr11:59439792-Variant-C;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative A tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgta CGAGTTGTTCTT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataAatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcgagttgttcttAGATCGAGACCCGACGC chr11:59439792-Alternative-A;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Variant C tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgta CGTACGTGGAGA CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcgtacgtggagaAGATCGAGACCCGACGC chr11:59439792-Variant-C;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Reference T tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgta CGATATCTGCGG CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataTatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcgatatctgcggAGATCGAGACCCGACGC chr11:59439792-Reference-T;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Variant C tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgta ATCGGCGGTCAT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAatcggcggtcatAGATCGAGACCCGACGC chr11:59439792-Variant-C;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative G tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgta CGACGTCGATTA CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAcgacgtcgattaAGATCGAGACCCGACGC chr11:59439792-Alternative-G;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Variant C tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgta ACGACTGACCAT CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataCatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAAacgactgaccatAGATCGAGACCCGACGC chr11:59439792-Variant-C;Patient-25 chr11:59439792-TC Inherited Patient-25 intergenic NA 0.000512821 -0.05 1.88 0 OSBP 56174 Alternative G tccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgta CTACGCTCTGAC CGACGCGGTCTCTCTCTtccagcctgggcaacagagggagactccatctcaaaaaaaactatatataGatatatatatatatatatatatatatatatatatatggttttttttgtaAGAGGGAGACGGACGTCTCAATAActacgctctgacAGATCGAGACCCGACGC chr11:59439792-Alternative-G;Patient-25 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Variant T cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GGTACCTCATTC CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAggtacctcattcAGATCGAGACCCGACGC chr11:60947522-Variant-T;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative G cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GACGTCTACGAC CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAgacgtctacgacAGATCGAGACCCGACGC chr11:60947522-Alternative-G;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative G cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GTAGGATGAACT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAgtaggatgaactAGATCGAGACCCGACGC chr11:60947522-Alternative-G;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative G cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CGCTCTCCATTC CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcgctctccattcAGATCGAGACCCGACGC chr11:60947522-Alternative-G;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Variant T cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GTGTTGGTACAT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAgtgttggtacatAGATCGAGACCCGACGC chr11:60947522-Variant-T;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative G cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CGCGATGCGATA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcgcgatgcgataAGATCGAGACCCGACGC chr11:60947522-Alternative-G;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Variant T cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CATTATTCTGCG CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcattattctgcgAGATCGAGACCCGACGC chr11:60947522-Variant-T;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Variant T cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CGAAGACATCGA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcgaagacatcgaAGATCGAGACCCGACGC chr11:60947522-Variant-T;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative G cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagac ACCGTTGGTAGA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggGtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAaccgttggtagaAGATCGAGACCCGACGC chr11:60947522-Alternative-G;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Variant T cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GCGATTACCTGG CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggTtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAgcgattacctggAGATCGAGACCCGACGC chr11:60947522-Variant-T;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Reference C cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagac ACTTGATGGAAC CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAacttgatggaacAGATCGAGACCCGACGC chr11:60947522-Reference-C;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative A cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagac ACAGCAGTGTGG CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAacagcagtgtggAGATCGAGACCCGACGC chr11:60947522-Alternative-A;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative A cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagac GATTCACCACTT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAgattcaccacttAGATCGAGACCCGACGC chr11:60947522-Alternative-A;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Reference C cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagac AGCAGCATCAGG CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAagcagcatcaggAGATCGAGACCCGACGC chr11:60947522-Reference-C;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative A cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagac ACTGCGGACGAT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAactgcggacgatAGATCGAGACCCGACGC chr11:60947522-Alternative-A;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative A cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CGGCTTGTAGGT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcggcttgtaggtAGATCGAGACCCGACGC chr11:60947522-Alternative-A;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Alternative A cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CTAGCCTATCGA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggAtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAActagcctatcgaAGATCGAGACCCGACGC chr11:60947522-Alternative-A;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Reference C cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CGCGTCTGACTA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAcgcgtctgactaAGATCGAGACCCGACGC chr11:60947522-Reference-C;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Reference C cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagac CTATACCGCATT CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAActataccgcattAGATCGAGACCCGACGC chr11:60947522-Reference-C;Patient-91 chr11:60947522-CT Inherited Patient-91 intergenic 3.2e-05 0.000512821 0.17 5.35 0 VPS37C 18605 Reference C cctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagac ATACCGTGACTA CGACGCGGTCTCTCTCTcctcagcctcctgagtagctgggattacaggtgtctgccaccacacctggCtaacttttgtatttttagtagagacagggtttcaccatgttggccagacAGAGGGAGACGGACGTCTCAATAAataccgtgactaAGATCGAGACCCGACGC chr11:60947522-Reference-C;Patient-91 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative T gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg AATGTGGTCGTT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAaatgtggtcgttAGATCGAGACCCGACGC chr11:61140594-Alternative-T;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative T gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CGGCGGATTCAA CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcggcggattcaaAGATCGAGACCCGACGC chr11:61140594-Alternative-T;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative T gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg ATATGTTCGGCA CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAatatgttcggcaAGATCGAGACCCGACGC chr11:61140594-Alternative-T;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative C gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg GCGCTCATTCGT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAgcgctcattcgtAGATCGAGACCCGACGC chr11:61140594-Alternative-C;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Variant G gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CAGCACACCATA CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcagcacaccataAGATCGAGACCCGACGC chr11:61140594-Variant-G;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Variant G gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg GTTCCAGCGTAC CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAgttccagcgtacAGATCGAGACCCGACGC chr11:61140594-Variant-G;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Variant G gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CGTAAGTACAGT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcgtaagtacagtAGATCGAGACCCGACGC chr11:61140594-Variant-G;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative C gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg AGTCTAGTCGAT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAagtctagtcgatAGATCGAGACCCGACGC chr11:61140594-Alternative-C;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative C gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg GCAAGTATAGCT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAgcaagtatagctAGATCGAGACCCGACGC chr11:61140594-Alternative-C;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative C gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg GCAAGGCTCCTA CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAgcaaggctcctaAGATCGAGACCCGACGC chr11:61140594-Alternative-C;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Variant G gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg ATCATGGATTGC CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAatcatggattgcAGATCGAGACCCGACGC chr11:61140594-Variant-G;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Reference A gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg AATGCGGACTAT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAaatgcggactatAGATCGAGACCCGACGC chr11:61140594-Reference-A;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative C gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CACACAACGTCA CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcCcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcacacaacgtcaAGATCGAGACCCGACGC chr11:61140594-Alternative-C;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Variant G gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CGATTGTCAGAT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcGcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcgattgtcagatAGATCGAGACCCGACGC chr11:61140594-Variant-G;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative T gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CAAGCTGCGAGT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcaagctgcgagtAGATCGAGACCCGACGC chr11:61140594-Alternative-T;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Reference A gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg GTGTTCGTGAAT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAgtgttcgtgaatAGATCGAGACCCGACGC chr11:61140594-Reference-A;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Reference A gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg CGGTCCGTCAAT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAcggtccgtcaatAGATCGAGACCCGACGC chr11:61140594-Reference-A;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Reference A gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg AGTGGCGTACAG CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAagtggcgtacagAGATCGAGACCCGACGC chr11:61140594-Reference-A;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Alternative T gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg ATAACTGGCGCG CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcTcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAataactggcgcgAGATCGAGACCCGACGC chr11:61140594-Alternative-T;Patient-96 chr11:61140594-AG DeNovo Patient-96 intergenic 0.000287 0.001 0.06 3.57 0 TMEM138 11120 Reference A gcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacgg ACCAACGCCGTT CGACGCGGTCTCTCTCTgcaagtcctgctaaatgttaaacactgacggcaattaaagccccatcttcAcgcccggtagaagatgccaatcaaaataaacttcattcctgaagcacggAGAGGGAGACGGACGTCTCAATAAaccaacgccgttAGATCGAGACCCGACGC chr11:61140594-Reference-A;Patient-96 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative A cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ATCTCAATTCGC CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAatctcaattcgcAGATCGAGACCCGACGC chr11:61379138-Alternative-A;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative A cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg CAGGAGATAACG CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAcaggagataacgAGATCGAGACCCGACGC chr11:61379138-Alternative-A;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative A cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACGCAAGTTCGC CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAacgcaagttcgcAGATCGAGACCCGACGC chr11:61379138-Alternative-A;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative A cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg GTTCTGCGGAAC CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAgttctgcggaacAGATCGAGACCCGACGC chr11:61379138-Alternative-A;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative A cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg CATAGTGGTCAT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccAacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAcatagtggtcatAGATCGAGACCCGACGC chr11:61379138-Alternative-A;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Reference C cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACCGTGGTCAAG CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAaccgtggtcaagAGATCGAGACCCGACGC chr11:61379138-Reference-C;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Variant G cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ATTGTGCATCGA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAattgtgcatcgaAGATCGAGACCCGACGC chr11:61379138-Variant-G;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Reference C cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg CAAGTTGGTCAT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAcaagttggtcatAGATCGAGACCCGACGC chr11:61379138-Reference-C;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Variant G cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACATGTTCATGG CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAacatgttcatggAGATCGAGACCCGACGC chr11:61379138-Variant-G;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Variant G cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg GAGTATGTGAGT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAgagtatgtgagtAGATCGAGACCCGACGC chr11:61379138-Variant-G;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Reference C cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACACTGTACGCA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAacactgtacgcaAGATCGAGACCCGACGC chr11:61379138-Reference-C;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Reference C cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACAACGCTTCTA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAacaacgcttctaAGATCGAGACCCGACGC chr11:61379138-Reference-C;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Reference C cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ACGCGAGGTAAG CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccCacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAacgcgaggtaagAGATCGAGACCCGACGC chr11:61379138-Reference-C;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative T cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg ATTCCATACGCT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAattccatacgctAGATCGAGACCCGACGC chr11:61379138-Alternative-T;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative T cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg GCCGGTATTGCA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAgccggtattgcaAGATCGAGACCCGACGC chr11:61379138-Alternative-T;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative T cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg AGACCGGACCTA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAagaccggacctaAGATCGAGACCCGACGC chr11:61379138-Alternative-T;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Variant G cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg CTAGTTGCGACT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAActagttgcgactAGATCGAGACCCGACGC chr11:61379138-Variant-G;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Variant G cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg AACAAGCGGATT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccGacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAaacaagcggattAGATCGAGACCCGACGC chr11:61379138-Variant-G;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative T cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg AGAGCTCGTGAT CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAagagctcgtgatAGATCGAGACCCGACGC chr11:61379138-Alternative-T;Patient-89 chr11:61379138-CG Inherited Patient-89 intergenic NA 0.000512821 -0.6 0.04 -5.34 SYT7 30793 Alternative T cagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctgg GTACGTAGGATA CGACGCGGTCTCTCTCTcagtcaggcctgcacctctgaggggtgaaaacccctccctgggccaccccTacccccagccagaggactctcgtcaggggtggcttggtcagccagctggAGAGGGAGACGGACGTCTCAATAAgtacgtaggataAGATCGAGACCCGACGC chr11:61379138-Alternative-T;Patient-89 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative A taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GGTACACTGTCG CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAggtacactgtcgAGATCGAGACCCGACGC chr11:61694909-Alternative-A;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative A taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GCGTCTGTACGT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAgcgtctgtacgtAGATCGAGACCCGACGC chr11:61694909-Alternative-A;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Variant T taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CAGTACGCAACC CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAcagtacgcaaccAGATCGAGACCCGACGC chr11:61694909-Variant-T;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative C taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GGCGCTTGGATT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAggcgcttggattAGATCGAGACCCGACGC chr11:61694909-Alternative-C;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Reference G taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GGCTGATGATCG CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAggctgatgatcgAGATCGAGACCCGACGC chr11:61694909-Reference-G;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Variant T taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc AGACGACGATAT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAagacgacgatatAGATCGAGACCCGACGC chr11:61694909-Variant-T;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Reference G taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GTAGAGTGCGAA CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAgtagagtgcgaaAGATCGAGACCCGACGC chr11:61694909-Reference-G;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Reference G taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CGACTTCGTTCG CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAcgacttcgttcgAGATCGAGACCCGACGC chr11:61694909-Reference-G;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Reference G taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GAAGTGCTACAT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAgaagtgctacatAGATCGAGACCCGACGC chr11:61694909-Reference-G;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative C taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc ACAGGACGCTTA CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAacaggacgcttaAGATCGAGACCCGACGC chr11:61694909-Alternative-C;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative A taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc ACCGTCACGGAT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAaccgtcacggatAGATCGAGACCCGACGC chr11:61694909-Alternative-A;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Reference G taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GCGATGTGCGTT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcGtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAgcgatgtgcgttAGATCGAGACCCGACGC chr11:61694909-Reference-G;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative C taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc AATCTAGGCTGT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAaatctaggctgtAGATCGAGACCCGACGC chr11:61694909-Alternative-C;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative C taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CGGACAACGTCA CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAcggacaacgtcaAGATCGAGACCCGACGC chr11:61694909-Alternative-C;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Variant T taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CTTATCTGTCGA CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAActtatctgtcgaAGATCGAGACCCGACGC chr11:61694909-Variant-T;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Variant T taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc ACCAAGTTGAGA CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAaccaagttgagaAGATCGAGACCCGACGC chr11:61694909-Variant-T;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative C taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc GGAAGTTCACAG CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcCtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAggaagttcacagAGATCGAGACCCGACGC chr11:61694909-Alternative-C;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Variant T taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CATCGAGCGTCT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcTtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAcatcgagcgtctAGATCGAGACCCGACGC chr11:61694909-Variant-T;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative A taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc CTGCGCTTACAC CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAActgcgcttacacAGATCGAGACCCGACGC chr11:61694909-Alternative-A;Patient-92 chr11:61694909-GT Inherited Patient-92 intergenic NA 6.28e-05 -0.3 0.37 -1.4 FTH1 40222 Alternative A taacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtc ACGGTGAATTCT CGACGCGGTCTCTCTCTtaacacacaggaccacaggtcaggtacaaggataggggaagtgcaaagtcAtctgggagcacatccaggaactcccaacctagacttaaggttaggagtcAGAGGGAGACGGACGTCTCAATAAacggtgaattctAGATCGAGACCCGACGC chr11:61694909-Alternative-A;Patient-92 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative G caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca AGCATCGATTGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAagcatcgattgtAGATCGAGACCCGACGC chr11:61697457-Alternative-G;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative G caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca AGCAGTGACGCA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAagcagtgacgcaAGATCGAGACCCGACGC chr11:61697457-Alternative-G;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative G caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GGATCGTACTAT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAggatcgtactatAGATCGAGACCCGACGC chr11:61697457-Alternative-G;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative G caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CGTCAAGAACGG CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcgtcaagaacggAGATCGAGACCCGACGC chr11:61697457-Alternative-G;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative G caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca ACTAACCGGTGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccGaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAactaaccggtgtAGATCGAGACCCGACGC chr11:61697457-Alternative-G;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Variant T caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CTTACGATTCCA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAActtacgattccaAGATCGAGACCCGACGC chr11:61697457-Variant-T;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Variant T caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GATGCGGAAGCA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAgatgcggaagcaAGATCGAGACCCGACGC chr11:61697457-Variant-T;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Variant T caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GACGATAAGTGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAgacgataagtgtAGATCGAGACCCGACGC chr11:61697457-Variant-T;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Reference C caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca AGCGCACCAACA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAagcgcaccaacaAGATCGAGACCCGACGC chr11:61697457-Reference-C;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative A caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CTGTTCGCGAGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAActgttcgcgagtAGATCGAGACCCGACGC chr11:61697457-Alternative-A;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Reference C caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GTCATCGCAGCA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAgtcatcgcagcaAGATCGAGACCCGACGC chr11:61697457-Reference-C;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Variant T caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CGTGAACGACAT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcgtgaacgacatAGATCGAGACCCGACGC chr11:61697457-Variant-T;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Variant T caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GTGGCTCTAGGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccTaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAgtggctctaggtAGATCGAGACCCGACGC chr11:61697457-Variant-T;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative A caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CGGAACGCTTGT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcggaacgcttgtAGATCGAGACCCGACGC chr11:61697457-Alternative-A;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative A caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca ACCTGAAGGCCA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAacctgaaggccaAGATCGAGACCCGACGC chr11:61697457-Alternative-A;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Reference C caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca AGTATCGCGTCG CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAagtatcgcgtcgAGATCGAGACCCGACGC chr11:61697457-Reference-C;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Reference C caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CGCAGTCGTGAA CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcgcagtcgtgaaAGATCGAGACCCGACGC chr11:61697457-Reference-C;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative A caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CATAGACTGCAT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcatagactgcatAGATCGAGACCCGACGC chr11:61697457-Alternative-A;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Reference C caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca CGTAATCATCCT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccCaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAcgtaatcatcctAGATCGAGACCCGACGC chr11:61697457-Reference-C;Patient-25 chr11:61697457-CT Inherited Patient-25 intergenic 3.3e-05 6.28e-05 -0.03 2.19 0.11 FTH1 37674 Alternative A caggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactaca GATATTGCAGCT CGACGCGGTCTCTCTCTcaggctggtgtgcagtggtgcagtctcggctcgctgcaacctttgcctccAaggttcaagtgattcccctgcctcggcctcctaagtagctgggactacaAGAGGGAGACGGACGTCTCAATAAgatattgcagctAGATCGAGACCCGACGC chr11:61697457-Alternative-A;Patient-25 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative G agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CATCTTAGTGCT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAcatcttagtgctAGATCGAGACCCGACGC chr11:61985039-Alternative-G;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Variant T agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GGCAAGAGATAC CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAggcaagagatacAGATCGAGACCCGACGC chr11:61985039-Variant-T;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Variant T agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca AGGAACTTGCTT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAaggaacttgcttAGATCGAGACCCGACGC chr11:61985039-Variant-T;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative A agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca ACCTTGCGATGC CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAaccttgcgatgcAGATCGAGACCCGACGC chr11:61985039-Alternative-A;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Variant T agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GTAGTGGTTGCG CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgtagtggttgcgAGATCGAGACCCGACGC chr11:61985039-Variant-T;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Variant T agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GACGGCTAGTCA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgacggctagtcaAGATCGAGACCCGACGC chr11:61985039-Variant-T;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative G agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CGACCAGATGCT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAcgaccagatgctAGATCGAGACCCGACGC chr11:61985039-Alternative-G;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative G agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CGTAGACGACGA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAcgtagacgacgaAGATCGAGACCCGACGC chr11:61985039-Alternative-G;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Reference C agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca ATTCGGACTTCT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAattcggacttctAGATCGAGACCCGACGC chr11:61985039-Reference-C;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Variant T agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CGCGATCTTGCA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttTaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAcgcgatcttgcaAGATCGAGACCCGACGC chr11:61985039-Variant-T;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative A agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CGAGGTAGGTGT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAcgaggtaggtgtAGATCGAGACCCGACGC chr11:61985039-Alternative-A;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative A agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca CTTGTCGAGATA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAActtgtcgagataAGATCGAGACCCGACGC chr11:61985039-Alternative-A;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Reference C agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca AACAGCGGCTGA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAaacagcggctgaAGATCGAGACCCGACGC chr11:61985039-Reference-C;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative A agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GGATCAAGACGA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAggatcaagacgaAGATCGAGACCCGACGC chr11:61985039-Alternative-A;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Reference C agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GTGTATTCTCGT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgtgtattctcgtAGATCGAGACCCGACGC chr11:61985039-Reference-C;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative G agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GCAAGTTAGCGG CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgcaagttagcggAGATCGAGACCCGACGC chr11:61985039-Alternative-G;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative A agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GTGATCCTCAGT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttAaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgtgatcctcagtAGATCGAGACCCGACGC chr11:61985039-Alternative-A;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Reference C agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca GCGAGTAATTCT CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAgcgagtaattctAGATCGAGACCCGACGC chr11:61985039-Reference-C;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Alternative G agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca AGCGGAACATTA CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttGaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAagcggaacattaAGATCGAGACCCGACGC chr11:61985039-Alternative-G;Patient-54 chr11:61985039-CT DeNovo Patient-54 intergenic 9.6e-05 0.000513 0.19 5.7 0 INCENP 93593 Reference C agaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactca ACTGTCATTACG CGACGCGGTCTCTCTCTagaaaaaaaagacaggataggtgctacaaacgtgaaaggacaggccacttCaagagagaatgtcccaaactaaaaaaagaggaaaaaacccttccactcaAGAGGGAGACGGACGTCTCAATAAactgtcattacgAGATCGAGACCCGACGC chr11:61985039-Reference-C;Patient-54 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Reference C gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GTTAGACTACGT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttagactacgtAGATCGAGACCCGACGC chr11:62360877-Reference-C;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Reference C gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GGACGTGCTATA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggacgtgctataAGATCGAGACCCGACGC chr11:62360877-Reference-C;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Reference C gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa AGAACCGTAGCT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagaaccgtagctAGATCGAGACCCGACGC chr11:62360877-Reference-C;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Reference C gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa AAGACGACTCGG CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagacgactcggAGATCGAGACCCGACGC chr11:62360877-Reference-C;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Reference C gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa AACGATTCGCTA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcCggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaacgattcgctaAGATCGAGACCCGACGC chr11:62360877-Reference-C;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative A gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa CGTCGATGTATA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtcgatgtataAGATCGAGACCCGACGC chr11:62360877-Alternative-A;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative A gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa AAGCGTCGTATT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagcgtcgtattAGATCGAGACCCGACGC chr11:62360877-Alternative-A;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative A gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa CGGATTCCACGA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggattccacgaAGATCGAGACCCGACGC chr11:62360877-Alternative-A;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative A gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GCGTACCGTAAG CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcgtaccgtaagAGATCGAGACCCGACGC chr11:62360877-Alternative-A;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative A gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa ACCTGACTGTGG CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcAggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacctgactgtggAGATCGAGACCCGACGC chr11:62360877-Alternative-A;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Variant T gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa ACGAAGGCCGAA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgaaggccgaaAGATCGAGACCCGACGC chr11:62360877-Variant-T;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Variant T gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa AGTGCTCGCTGA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagtgctcgctgaAGATCGAGACCCGACGC chr11:62360877-Variant-T;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Variant T gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa ATCGTTCTGGCG CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatcgttctggcgAGATCGAGACCCGACGC chr11:62360877-Variant-T;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Variant T gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa CGATGCAGCATC CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgatgcagcatcAGATCGAGACCCGACGC chr11:62360877-Variant-T;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Variant T gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa CGACACGACACT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcTggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgacacgacactAGATCGAGACCCGACGC chr11:62360877-Variant-T;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative G gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GAGTGCCGACTA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgagtgccgactaAGATCGAGACCCGACGC chr11:62360877-Alternative-G;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative G gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GACGGAACTAGA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgacggaactagaAGATCGAGACCCGACGC chr11:62360877-Alternative-G;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative G gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa CGATAACACGAA CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgataacacgaaAGATCGAGACCCGACGC chr11:62360877-Alternative-G;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative G gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GAGTTAGACGTT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgagttagacgttAGATCGAGACCCGACGC chr11:62360877-Alternative-G;Patient-30 chr11:62360877-CT Inherited Patient-30 3 prime UTR MTA2 0.00036 0.000479 NA NA NA MTA2 8434 Alternative G gcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaa GTCTAGGCGTCT CGACGCGGTCTCTCTCTgcctggggttgatgccagcttaggggcctcaaactccaattaggaaagtcGggacaccggacagaaagagaaacccccaattaggaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtctaggcgtctAGATCGAGACCCGACGC chr11:62360877-Alternative-G;Patient-30 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Variant C gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CATTCTGCGTCG CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAcattctgcgtcgAGATCGAGACCCGACGC chr11:62447908-Variant-C;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Variant C gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CTGTCGGTAGGT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAActgtcggtaggtAGATCGAGACCCGACGC chr11:62447908-Variant-C;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Reference G gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GGTATCTCGCCA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAggtatctcgccaAGATCGAGACCCGACGC chr11:62447908-Reference-G;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Variant C gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga ATACAACTCGTC CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAatacaactcgtcAGATCGAGACCCGACGC chr11:62447908-Variant-C;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Variant C gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga AGGCTCTCAATA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAaggctctcaataAGATCGAGACCCGACGC chr11:62447908-Variant-C;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Reference G gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga AAGGAGTTCCAA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAaaggagttccaaAGATCGAGACCCGACGC chr11:62447908-Reference-G;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Reference G gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga ACCGTATCCGAA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAaccgtatccgaaAGATCGAGACCCGACGC chr11:62447908-Reference-G;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Reference G gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GCATAGACTGCG CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAgcatagactgcgAGATCGAGACCCGACGC chr11:62447908-Reference-G;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative A gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CAGGTACACGTC CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAcaggtacacgtcAGATCGAGACCCGACGC chr11:62447908-Alternative-A;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Reference G gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GAGATCGTACTT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaGctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAgagatcgtacttAGATCGAGACCCGACGC chr11:62447908-Reference-G;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative T gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GCACGCAATTAT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAgcacgcaattatAGATCGAGACCCGACGC chr11:62447908-Alternative-T;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative T gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga AGTTAACAGACG CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAagttaacagacgAGATCGAGACCCGACGC chr11:62447908-Alternative-T;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative A gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CGCGTACCTAGT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAcgcgtacctagtAGATCGAGACCCGACGC chr11:62447908-Alternative-A;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative T gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CGAACCGTACCA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAcgaaccgtaccaAGATCGAGACCCGACGC chr11:62447908-Alternative-T;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Variant C gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga ATCATGCGATAC CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaCctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAatcatgcgatacAGATCGAGACCCGACGC chr11:62447908-Variant-C;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative A gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga AGTTAGGCGCCA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAagttaggcgccaAGATCGAGACCCGACGC chr11:62447908-Alternative-A;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative T gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga CAACACGACGCT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAcaacacgacgctAGATCGAGACCCGACGC chr11:62447908-Alternative-T;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative T gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GACGGACGAGTT CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaTctcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAgacggacgagttAGATCGAGACCCGACGC chr11:62447908-Alternative-T;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative A gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga AGACTAGACGAC CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAagactagacgacAGATCGAGACCCGACGC chr11:62447908-Alternative-A;Patient-82 chr11:62447908-GC DeNovo Patient-82 intergenic 0.000263 0.00154 -0.07 1.66 0.35 UBXN1 1380 Alternative A gacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccga GGTACGCTGGAA CGACGCGGTCTCTCTCTgacaaaatctcactctgtaacccaggctggagtgcagtggcacaatctcaActcactgcaacctctgcctgccccgggtttaagcgattctcctgcccgaAGAGGGAGACGGACGTCTCAATAAggtacgctggaaAGATCGAGACCCGACGC chr11:62447908-Alternative-A;Patient-82 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Variant A gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ATCCGTGACGGT CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAatccgtgacggtAGATCGAGACCCGACGC chr11:62551550-Variant-A;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative C gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ACCTTGCTTCGG CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAaccttgcttcggAGATCGAGACCCGACGC chr11:62551550-Alternative-C;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Variant A gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CACACAACTCTA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAcacacaactctaAGATCGAGACCCGACGC chr11:62551550-Variant-A;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Variant A gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact GTTAATCGGCTA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAgttaatcggctaAGATCGAGACCCGACGC chr11:62551550-Variant-A;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative C gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact GTAACCGGCCAA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAgtaaccggccaaAGATCGAGACCCGACGC chr11:62551550-Alternative-C;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Reference T gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ACCACAGCAATC CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAaccacagcaatcAGATCGAGACCCGACGC chr11:62551550-Reference-T;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Variant A gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CGGATAAGAGTT CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAcggataagagttAGATCGAGACCCGACGC chr11:62551550-Variant-A;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative C gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ATTCCGTCGATT CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAattccgtcgattAGATCGAGACCCGACGC chr11:62551550-Alternative-C;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Reference T gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact AGAGCATGGTAA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAagagcatggtaaAGATCGAGACCCGACGC chr11:62551550-Reference-T;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative C gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact GTGCTAACGGCA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAgtgctaacggcaAGATCGAGACCCGACGC chr11:62551550-Alternative-C;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative C gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CTGTCATGTAGA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccCcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAActgtcatgtagaAGATCGAGACCCGACGC chr11:62551550-Alternative-C;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Variant A gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ATTCGAATCACG CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccAcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAattcgaatcacgAGATCGAGACCCGACGC chr11:62551550-Variant-A;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Reference T gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ATTCATTGCCGA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAattcattgccgaAGATCGAGACCCGACGC chr11:62551550-Reference-T;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Reference T gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact ATTGGTTCGTCA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAattggttcgtcaAGATCGAGACCCGACGC chr11:62551550-Reference-T;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative G gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CGCGTATTCGAC CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAcgcgtattcgacAGATCGAGACCCGACGC chr11:62551550-Alternative-G;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Reference T gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CTCACATCGGAC CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccTcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAActcacatcggacAGATCGAGACCCGACGC chr11:62551550-Reference-T;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative G gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CGACAATTGCTT CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAcgacaattgcttAGATCGAGACCCGACGC chr11:62551550-Alternative-G;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative G gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact GTAGTCGTGTCG CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAgtagtcgtgtcgAGATCGAGACCCGACGC chr11:62551550-Alternative-G;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative G gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact CAGCTCTCCACA CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAcagctctccacaAGATCGAGACCCGACGC chr11:62551550-Alternative-G;Patient-53 chr11:62551550-TA DeNovo Patient-53 intronic TAF6L NA 4.95e-05 0.45 8.94 0 TAF6L 12774 Alternative G gcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggact GACTACGCCAAG CGACGCGGTCTCTCTCTgcccgggctggagtgcagtggcgtgatctcggctcactgcaacctccaccGcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggactAGAGGGAGACGGACGTCTCAATAAgactacgccaagAGATCGAGACCCGACGC chr11:62551550-Alternative-G;Patient-53 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative T aatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GCGACCACATAT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAgcgaccacatatAGATCGAGACCCGACGC chr11:63548582-Alternative-T;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Variant G aatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GATAGGCCATGG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAgataggccatggAGATCGAGACCCGACGC chr11:63548582-Variant-G;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative T aatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca AGTCAACAACAG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAagtcaacaacagAGATCGAGACCCGACGC chr11:63548582-Alternative-T;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Variant G aatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CTAGCCGATTAA CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAActagccgattaaAGATCGAGACCCGACGC chr11:63548582-Variant-G;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Variant G aatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca ACTATGAACCGT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAactatgaaccgtAGATCGAGACCCGACGC chr11:63548582-Variant-G;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative T aatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CGAACATCGAAG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAcgaacatcgaagAGATCGAGACCCGACGC chr11:63548582-Alternative-T;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Variant G aatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca AACCGAGGACAC CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAaaccgaggacacAGATCGAGACCCGACGC chr11:63548582-Variant-G;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative T aatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GGTTAGAACGGT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAggttagaacggtAGATCGAGACCCGACGC chr11:63548582-Alternative-T;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Variant G aatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GCGAACTAACTT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaGggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAgcgaactaacttAGATCGAGACCCGACGC chr11:63548582-Variant-G;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative C aatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CTATGGTCGTGG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAActatggtcgtggAGATCGAGACCCGACGC chr11:63548582-Alternative-C;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative T aatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CACTTCGGTTCG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaTggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAcacttcggttcgAGATCGAGACCCGACGC chr11:63548582-Alternative-T;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative C aatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca ACGCTTCTGTGC CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAacgcttctgtgcAGATCGAGACCCGACGC chr11:63548582-Alternative-C;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Reference A aatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GACTATGGTAAG CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAgactatggtaagAGATCGAGACCCGACGC chr11:63548582-Reference-A;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative C aatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CTTACGTAGTCA CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAActtacgtagtcaAGATCGAGACCCGACGC chr11:63548582-Alternative-C;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative C aatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CACGTGATATGT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAcacgtgatatgtAGATCGAGACCCGACGC chr11:63548582-Alternative-C;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Reference A aatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca CTATTCGTTGAC CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAActattcgttgacAGATCGAGACCCGACGC chr11:63548582-Reference-A;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Reference A aatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GGATGACAATGT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAggatgacaatgtAGATCGAGACCCGACGC chr11:63548582-Reference-A;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Reference A aatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GGATAAGATCGA CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAggataagatcgaAGATCGAGACCCGACGC chr11:63548582-Reference-A;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Alternative C aatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca GCGATCATTGAT CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaCggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAgcgatcattgatAGATCGAGACCCGACGC chr11:63548582-Alternative-C;Patient-85 chr11:63548582-AG Inherited Patient-85 intergenic 0.000511 0.00205 0.02 2.94 0.12 MARK2 57817 Reference A aatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggcca ACAGGATTCGAC CGACGCGGTCTCTCTCTaatacccagataataagatttcagaaagacacacataaaaataaatagaaAggccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccaAGAGGGAGACGGACGTCTCAATAAacaggattcgacAGATCGAGACCCGACGC chr11:63548582-Reference-A;Patient-85 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Reference G cagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GAATTGCGGTAA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgaattgcggtaaAGATCGAGACCCGACGC chr11:64004599-Reference-G;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Reference G cagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CACGGTTAGTAT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcacggttagtatAGATCGAGACCCGACGC chr11:64004599-Reference-G;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Reference G cagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CATTGAGAGGCG CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcattgagaggcgAGATCGAGACCCGACGC chr11:64004599-Reference-G;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Reference G cagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct ACGAACGTCAGA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAacgaacgtcagaAGATCGAGACCCGACGC chr11:64004599-Reference-G;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Variant T cagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct AACGCGCGAGTT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAaacgcgcgagttAGATCGAGACCCGACGC chr11:64004599-Variant-T;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Reference G cagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GCATGCACCGAA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagGatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgcatgcaccgaaAGATCGAGACCCGACGC chr11:64004599-Reference-G;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative A cagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CGATCGAAGACG CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcgatcgaagacgAGATCGAGACCCGACGC chr11:64004599-Alternative-A;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Variant T cagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GTCGCTCGTTGT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgtcgctcgttgtAGATCGAGACCCGACGC chr11:64004599-Variant-T;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative A cagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CGTAACAACCTA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcgtaacaacctaAGATCGAGACCCGACGC chr11:64004599-Alternative-A;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Variant T cagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct AATCTGTGTGCA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAaatctgtgtgcaAGATCGAGACCCGACGC chr11:64004599-Variant-T;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Variant T cagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct ACCTTACTCCAA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAaccttactccaaAGATCGAGACCCGACGC chr11:64004599-Variant-T;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative A cagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CAGCGACTTCGA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcagcgacttcgaAGATCGAGACCCGACGC chr11:64004599-Alternative-A;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative C cagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct ACTCATAGTACC CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAactcatagtaccAGATCGAGACCCGACGC chr11:64004599-Alternative-C;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative C cagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GATTGATACCGT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgattgataccgtAGATCGAGACCCGACGC chr11:64004599-Alternative-C;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative A cagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CAACCGTGTAAC CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcaaccgtgtaacAGATCGAGACCCGACGC chr11:64004599-Alternative-A;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative A cagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GCGTACACGCTA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagAatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgcgtacacgctaAGATCGAGACCCGACGC chr11:64004599-Alternative-A;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Variant T cagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct CGGATGAACGCA CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagTatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAcggatgaacgcaAGATCGAGACCCGACGC chr11:64004599-Variant-T;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative C cagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GGCGGATTAATT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAggcggattaattAGATCGAGACCCGACGC chr11:64004599-Alternative-C;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative C cagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct GTGACTCGAGCT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAgtgactcgagctAGATCGAGACCCGACGC chr11:64004599-Alternative-C;Patient-16 chr11:64004599-GT DeNovo Patient-16 intronic VEGFB 0.000187 0.006730674 0.79 11.76 2.5 VEGFB 2542 Alternative C cagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatct ACTTCGTAAGGT CGACGCGGTCTCTCTCTcagtctcaaagagagagagagagagagagagagagagagagagagagtagCatgctgggatttcctgatcttcctcttgtttgtctgtgtctgtctatctAGAGGGAGACGGACGTCTCAATAAacttcgtaaggtAGATCGAGACCCGACGC chr11:64004599-Alternative-C;Patient-16 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Reference G caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GTATTGAGTTCG CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAgtattgagttcgAGATCGAGACCCGACGC chr11:64152869-Reference-G;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative T caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CTGCATTCCATA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAActgcattccataAGATCGAGACCCGACGC chr11:64152869-Alternative-T;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Reference G caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GACCATAGCAGT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAgaccatagcagtAGATCGAGACCCGACGC chr11:64152869-Reference-G;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Reference G caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt AGCGCTAGTAAT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAagcgctagtaatAGATCGAGACCCGACGC chr11:64152869-Reference-G;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Reference G caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GCCTTGTTCGGT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAgccttgttcggtAGATCGAGACCCGACGC chr11:64152869-Reference-G;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Variant A caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CGACGGACGTAA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcgacggacgtaaAGATCGAGACCCGACGC chr11:64152869-Variant-A;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative T caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CGCCGACCTATA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcgccgacctataAGATCGAGACCCGACGC chr11:64152869-Alternative-T;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative T caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt AACGTCGTCGCA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAaacgtcgtcgcaAGATCGAGACCCGACGC chr11:64152869-Alternative-T;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative T caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CGCGATATCATT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcgcgatatcattAGATCGAGACCCGACGC chr11:64152869-Alternative-T;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative T caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GATCGCCGTACT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcTggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAgatcgccgtactAGATCGAGACCCGACGC chr11:64152869-Alternative-T;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative C caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CACGACATCAGG CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcacgacatcaggAGATCGAGACCCGACGC chr11:64152869-Alternative-C;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative C caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GGAGATGGTAAC CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAggagatggtaacAGATCGAGACCCGACGC chr11:64152869-Alternative-C;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Reference G caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CAATGCTCATGA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcGggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcaatgctcatgaAGATCGAGACCCGACGC chr11:64152869-Reference-G;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Variant A caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CGAGAGATAAGA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcgagagataagaAGATCGAGACCCGACGC chr11:64152869-Variant-A;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative C caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt AACCATGCGGAC CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAaaccatgcggacAGATCGAGACCCGACGC chr11:64152869-Alternative-C;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Variant A caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CGCATGATCCGA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcgcatgatccgaAGATCGAGACCCGACGC chr11:64152869-Variant-A;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Variant A caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt CAGATAACGGAT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAcagataacggatAGATCGAGACCCGACGC chr11:64152869-Variant-A;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative C caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt AGTGCTTAGGTT CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAagtgcttaggttAGATCGAGACCCGACGC chr11:64152869-Alternative-C;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Variant A caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt AGAGTGTTCCTA CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcAggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAagagtgttcctaAGATCGAGACCCGACGC chr11:64152869-Variant-A;Patient-27 chr11:64152869-GA DeNovo Patient-27 intergenic NA 0.000513 -0.08 1.64 -2.28 RPS6KA4 26243 Alternative C caccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgt GGTTCTAACATC CGACGCGGTCTCTCTCTcaccattcacaggtcctcagagcctctctgtgttatttttcctgcccagcCggggtcaacaggtatctggcagggcctgctcaccaacagatgtccctgtAGAGGGAGACGGACGTCTCAATAAggttctaacatcAGATCGAGACCCGACGC chr11:64152869-Alternative-C;Patient-27 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Reference G acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CTATACTGAAGG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAActatactgaaggAGATCGAGACCCGACGC chr11:64521604-Reference-G;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative T acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctccc ACGTTCTGCCAC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAacgttctgccacAGATCGAGACCCGACGC chr11:64521604-Alternative-T;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Reference G acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GGTGTCGCCTAA CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAggtgtcgcctaaAGATCGAGACCCGACGC chr11:64521604-Reference-G;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Reference G acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GGTAACAGATAC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAggtaacagatacAGATCGAGACCCGACGC chr11:64521604-Reference-G;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative T acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctccc ACTTCAGCGCAC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAacttcagcgcacAGATCGAGACCCGACGC chr11:64521604-Alternative-T;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Variant A acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CGTTGGATGCGT CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAcgttggatgcgtAGATCGAGACCCGACGC chr11:64521604-Variant-A;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Variant A acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctccc AGTTACGCTCGG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAagttacgctcggAGATCGAGACCCGACGC chr11:64521604-Variant-A;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative T acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GTAAGAGATCCT CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgtaagagatcctAGATCGAGACCCGACGC chr11:64521604-Alternative-T;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative T acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GTTGGAATATGG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgttggaatatggAGATCGAGACCCGACGC chr11:64521604-Alternative-T;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Variant A acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CGTGACATGCGT CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAcgtgacatgcgtAGATCGAGACCCGACGC chr11:64521604-Variant-A;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative T acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctccc AGCAACGCGTAC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacTgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAagcaacgcgtacAGATCGAGACCCGACGC chr11:64521604-Alternative-T;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Variant A acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GCGTCTAATAAC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgcgtctaataacAGATCGAGACCCGACGC chr11:64521604-Variant-A;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Reference G acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GTAGTATAAGCG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgtagtataagcgAGATCGAGACCCGACGC chr11:64521604-Reference-G;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Reference G acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GTATCTTGCGGC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacGgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgtatcttgcggcAGATCGAGACCCGACGC chr11:64521604-Reference-G;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative C acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CTAAGCGTTCGC CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAActaagcgttcgcAGATCGAGACCCGACGC chr11:64521604-Alternative-C;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative C acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctccc AGATGTATGGAG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAagatgtatggagAGATCGAGACCCGACGC chr11:64521604-Alternative-C;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Variant A acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GTGCGCAAGAAG CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacAgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgtgcgcaagaagAGATCGAGACCCGACGC chr11:64521604-Variant-A;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative C acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CAACACCAACCA CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAcaacaccaaccaAGATCGAGACCCGACGC chr11:64521604-Alternative-C;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative C acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctccc CACATCATGTGA CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAcacatcatgtgaAGATCGAGACCCGACGC chr11:64521604-Alternative-C;Patient-58 chr11:64521604-GA DeNovo Patient-58 intronic PYGM NA 9.26e-05 -0.42 0.15 -7.37 PYGM 6582 Alternative C acactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctccc GACCGTGCTTCT CGACGCGGTCTCTCTCTacactacgcatcccagtgggcccccccactgcagtgccaggttccaggacCgtccctctggcctcaggctctgatcccttcactccattcatatcctcccAGAGGGAGACGGACGTCTCAATAAgaccgtgcttctAGATCGAGACCCGACGC chr11:64521604-Alternative-C;Patient-58 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Variant C cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AAGTCGCTGAAT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAaagtcgctgaatAGATCGAGACCCGACGC chr11:64703680-Variant-C;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Variant C cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CATCACGGCGAT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAcatcacggcgatAGATCGAGACCCGACGC chr11:64703680-Variant-C;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Variant C cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AGGTTGACCTAT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAaggttgacctatAGATCGAGACCCGACGC chr11:64703680-Variant-C;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative A cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AAGGCGTCGCTA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAaaggcgtcgctaAGATCGAGACCCGACGC chr11:64703680-Alternative-A;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative A cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CTCGTTCGCAGT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAActcgttcgcagtAGATCGAGACCCGACGC chr11:64703680-Alternative-A;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative A cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CGTCTACGGCAA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAcgtctacggcaaAGATCGAGACCCGACGC chr11:64703680-Alternative-A;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Variant C cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcct GGTGTAAGTGAT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAggtgtaagtgatAGATCGAGACCCGACGC chr11:64703680-Variant-C;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Variant C cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CGAACGACATAA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggCttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAcgaacgacataaAGATCGAGACCCGACGC chr11:64703680-Variant-C;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative A cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcct GGAACTCCGTAA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAggaactccgtaaAGATCGAGACCCGACGC chr11:64703680-Alternative-A;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Reference G cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcct GTTGTTAGGCTT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAgttgttaggcttAGATCGAGACCCGACGC chr11:64703680-Reference-G;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Reference G cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CTCATTGCGGAC CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAActcattgcggacAGATCGAGACCCGACGC chr11:64703680-Reference-G;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Reference G cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcct GGTCATGTAACG CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAggtcatgtaacgAGATCGAGACCCGACGC chr11:64703680-Reference-G;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Reference G cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AACGTCTTCGTT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAaacgtcttcgttAGATCGAGACCCGACGC chr11:64703680-Reference-G;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Reference G cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcct ACGAAGAGTAGA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggGttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAacgaagagtagaAGATCGAGACCCGACGC chr11:64703680-Reference-G;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative A cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcct GATCGAGTACGG CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggAttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAgatcgagtacggAGATCGAGACCCGACGC chr11:64703680-Alternative-A;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative T cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CTGTCGACTAAG CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAActgtcgactaagAGATCGAGACCCGACGC chr11:64703680-Alternative-T;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative T cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AGAGTAACGCAG CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAagagtaacgcagAGATCGAGACCCGACGC chr11:64703680-Alternative-T;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative T cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CAGGCGAATCGT CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAcaggcgaatcgtAGATCGAGACCCGACGC chr11:64703680-Alternative-T;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative T cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcct CGCAGATATGAG CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAcgcagatatgagAGATCGAGACCCGACGC chr11:64703680-Alternative-T;Patient-30 chr11:64703680-GC Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA EHD1 57488 Alternative T cagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcct AGCGCGAGGTAA CGACGCGGTCTCTCTCTcagctgacgacacaggggtcaagactcttggctgagttgtggacacctggTttctctttgctctgtgaccttggacagaacatttccctgttcagggcctAGAGGGAGACGGACGTCTCAATAAagcgcgaggtaaAGATCGAGACCCGACGC chr11:64703680-Alternative-T;Patient-30 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Variant T acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatata GACTGTCAAGCG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAgactgtcaagcgAGATCGAGACCCGACGC chr11:65013745-Variant-T;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Variant T acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatata GCGCTCATCTTC CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAgcgctcatcttcAGATCGAGACCCGACGC chr11:65013745-Variant-T;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Variant T acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatata AAGTCTACGCAA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAaagtctacgcaaAGATCGAGACCCGACGC chr11:65013745-Variant-T;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative G acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatata ATCTTAGGCCTT CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAatcttaggccttAGATCGAGACCCGACGC chr11:65013745-Alternative-G;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative C acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatata AGATGATGTGCA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAagatgatgtgcaAGATCGAGACCCGACGC chr11:65013745-Alternative-C;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative C acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatata AGTTATGCGCTT CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAagttatgcgcttAGATCGAGACCCGACGC chr11:65013745-Alternative-C;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Reference A acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatata AGCCTTGAACCG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAagccttgaaccgAGATCGAGACCCGACGC chr11:65013745-Reference-A;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Variant T acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatata GTGACGATTAAG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAgtgacgattaagAGATCGAGACCCGACGC chr11:65013745-Variant-T;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Reference A acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatata AGATACCACGAG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAagataccacgagAGATCGAGACCCGACGC chr11:65013745-Reference-A;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative C acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatata AGTTGTACCTGA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAagttgtacctgaAGATCGAGACCCGACGC chr11:65013745-Alternative-C;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Variant T acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatata CGCTTAGTAAGA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaTaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAcgcttagtaagaAGATCGAGACCCGACGC chr11:65013745-Variant-T;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative C acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatata ACACTAGTGACT CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAacactagtgactAGATCGAGACCCGACGC chr11:65013745-Alternative-C;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative C acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatata ACGATCGTAGAA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaCaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAacgatcgtagaaAGATCGAGACCCGACGC chr11:65013745-Alternative-C;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Reference A acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatata ACCAAGTAGTAC CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAaccaagtagtacAGATCGAGACCCGACGC chr11:65013745-Reference-A;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative G acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatata GTAACGTTGCAT CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAgtaacgttgcatAGATCGAGACCCGACGC chr11:65013745-Alternative-G;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative G acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatata CTAACGCGTCGA CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAActaacgcgtcgaAGATCGAGACCCGACGC chr11:65013745-Alternative-G;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Reference A acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatata CATTGCGATAGG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAcattgcgataggAGATCGAGACCCGACGC chr11:65013745-Reference-A;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative G acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatata ATAGCCGACGAG CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAatagccgacgagAGATCGAGACCCGACGC chr11:65013745-Alternative-G;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Alternative G acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatata GACGAATAGTAC CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaGaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAgacgaatagtacAGATCGAGACCCGACGC chr11:65013745-Alternative-G;Patient-22 chr11:65013745-AT DeNovo Patient-22 intergenic 0.000173 0.000513 -0.67 0.02 -0.59 POLA2 15686 Reference A acgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatata CACGGAACACAT CGACGCGGTCTCTCTCTacgatggttccaggctgggtgacagagtgagactttgtctcaaaaaaaaaAaaaaaaaaatatatatatatatatatacacatatatatatatatatataAGAGGGAGACGGACGTCTCAATAAcacggaacacatAGATCGAGACCCGACGC chr11:65013745-Reference-A;Patient-22 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative A ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg CATCCAACGCAG CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAcatccaacgcagAGATCGAGACCCGACGC chr11:65018128-Alternative-A;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Reference C ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg GAGTCAAGACAT CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAgagtcaagacatAGATCGAGACCCGACGC chr11:65018128-Reference-C;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Reference C ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg CGATCTCAGTTA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAcgatctcagttaAGATCGAGACCCGACGC chr11:65018128-Reference-C;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Reference C ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg CGAACATGTCTA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAcgaacatgtctaAGATCGAGACCCGACGC chr11:65018128-Reference-C;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Reference C ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGATCGTTGTTC CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAagatcgttgttcAGATCGAGACCCGACGC chr11:65018128-Reference-C;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Reference C ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGCACGTCGATT CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaCggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAagcacgtcgattAGATCGAGACCCGACGC chr11:65018128-Reference-C;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative A ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AACGGCGAGTCA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAaacggcgagtcaAGATCGAGACCCGACGC chr11:65018128-Alternative-A;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative A ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg ATAGATAGGTCG CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAatagataggtcgAGATCGAGACCCGACGC chr11:65018128-Alternative-A;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative A ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg CGTGAAGCTACC CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAcgtgaagctaccAGATCGAGACCCGACGC chr11:65018128-Alternative-A;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative G ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg GACCAAGCATAA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAgaccaagcataaAGATCGAGACCCGACGC chr11:65018128-Alternative-G;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative A ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGGTGTAGGTTA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaAggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAaggtgtaggttaAGATCGAGACCCGACGC chr11:65018128-Alternative-A;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Variant T ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg GATGACGATAGT CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAgatgacgatagtAGATCGAGACCCGACGC chr11:65018128-Variant-T;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative G ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg GGAACAGATGGT CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAggaacagatggtAGATCGAGACCCGACGC chr11:65018128-Alternative-G;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative G ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg ATTGGTATAGCG CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAattggtatagcgAGATCGAGACCCGACGC chr11:65018128-Alternative-G;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Variant T ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AAGATATGCGAC CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAaagatatgcgacAGATCGAGACCCGACGC chr11:65018128-Variant-T;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative G ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg GGCTTCGCATGA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAggcttcgcatgaAGATCGAGACCCGACGC chr11:65018128-Alternative-G;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Variant T ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg CAACGCTTCAGG CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAcaacgcttcaggAGATCGAGACCCGACGC chr11:65018128-Variant-T;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Variant T ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGAGGTAGACGC CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAagaggtagacgcAGATCGAGACCCGACGC chr11:65018128-Variant-T;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Variant T ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGCACCAAGATA CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaTggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAagcaccaagataAGATCGAGACCCGACGC chr11:65018128-Variant-T;Patient-92 chr11:65018128-CT DeNovo Patient-92 intergenic 0.000127 0.001025641 -0.11 1.31 -3 CAPN1 69441 Alternative G ctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcagg AGCATCGAGGAC CGACGCGGTCTCTCTCTctgcagaagataaaattactcagctgcatctggaacaggctcctcagctaGggggcatcgcccaactccccttgcagtcacaagccccttctctttcaggAGAGGGAGACGGACGTCTCAATAAagcatcgaggacAGATCGAGACCCGACGC chr11:65018128-Alternative-G;Patient-92 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative G cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CATTGGTCGAAT CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcattggtcgaatAGATCGAGACCCGACGC chr11:65136722-Alternative-G;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative G cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GATCAACGGACG CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgatcaacggacgAGATCGAGACCCGACGC chr11:65136722-Alternative-G;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative G cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CGAGTATGTGAA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcgagtatgtgaaAGATCGAGACCCGACGC chr11:65136722-Alternative-G;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative G cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GTGACGTAAGCG CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgtgacgtaagcgAGATCGAGACCCGACGC chr11:65136722-Alternative-G;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative G cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CAGATGCCTCAT CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaGtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcagatgcctcatAGATCGAGACCCGACGC chr11:65136722-Alternative-G;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Variant T cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CAAGCGAATGCA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcaagcgaatgcaAGATCGAGACCCGACGC chr11:65136722-Variant-T;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Variant T cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CGTGTAATATCG CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcgtgtaatatcgAGATCGAGACCCGACGC chr11:65136722-Variant-T;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Reference C cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt ATCGTGGAGTGG CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAatcgtggagtggAGATCGAGACCCGACGC chr11:65136722-Reference-C;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Reference C cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GAATGTAGGCGA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgaatgtaggcgaAGATCGAGACCCGACGC chr11:65136722-Reference-C;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Reference C cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CATGAGTGGAGA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcatgagtggagaAGATCGAGACCCGACGC chr11:65136722-Reference-C;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative A cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GAGATACCACTT CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgagataccacttAGATCGAGACCCGACGC chr11:65136722-Alternative-A;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Variant T cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CGCTATATGAGT CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcgctatatgagtAGATCGAGACCCGACGC chr11:65136722-Variant-T;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Variant T cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt AGGTTCGGTCGT CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAaggttcggtcgtAGATCGAGACCCGACGC chr11:65136722-Variant-T;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative A cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GAGGTTCACTTA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgaggttcacttaAGATCGAGACCCGACGC chr11:65136722-Alternative-A;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Reference C cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GGAGGTTGCTGA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAggaggttgctgaAGATCGAGACCCGACGC chr11:65136722-Reference-C;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative A cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CATTCGCCAGAA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcattcgccagaaAGATCGAGACCCGACGC chr11:65136722-Alternative-A;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative A cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt ATCAAGAGCACA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAatcaagagcacaAGATCGAGACCCGACGC chr11:65136722-Alternative-A;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Alternative A cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CTCAATACGTTC CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaAtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAActcaatacgttcAGATCGAGACCCGACGC chr11:65136722-Alternative-A;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Variant T cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt CGACTAAGGATA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaTtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAcgactaaggataAGATCGAGACCCGACGC chr11:65136722-Variant-T;Patient-19 chr11:65136722-CT DeNovo Patient-19 intergenic NA 0.000512821 -0.09 1.48 -1.05 FRMD8 17318 Reference C cataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgt GCAGCGTTCCAA CGACGCGGTCTCTCTCTcataagtcaaaggaatgtgatcaaggtttccataaggaagtgtggctgaaCtgagagctgaaggctgggtgggaggcacacaggcaggcagagggcatgtAGAGGGAGACGGACGTCTCAATAAgcagcgttccaaAGATCGAGACCCGACGC chr11:65136722-Reference-C;Patient-19 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative C ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa ACGTTCAACGAT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgttcaacgatAGATCGAGACCCGACGC chr11:65279162-Alternative-C;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative C ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CAAGCTAGCCGT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcaagctagccgtAGATCGAGACCCGACGC chr11:65279162-Alternative-C;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative C ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa GGCTAGGTTCCA CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggctaggttccaAGATCGAGACCCGACGC chr11:65279162-Alternative-C;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative C ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AGGTAAGCGAAG CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggtaagcgaagAGATCGAGACCCGACGC chr11:65279162-Alternative-C;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Variant A ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AACTCGTGATCA CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaactcgtgatcaAGATCGAGACCCGACGC chr11:65279162-Variant-A;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative C ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AGCGTACGACAG CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattCcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagcgtacgacagAGATCGAGACCCGACGC chr11:65279162-Alternative-C;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Variant A ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa GTCATAAGGAGA CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcataaggagaAGATCGAGACCCGACGC chr11:65279162-Variant-A;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Variant A ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CTGCTTCGCGAA CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActgcttcgcgaaAGATCGAGACCCGACGC chr11:65279162-Variant-A;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Variant A ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CGGCATTGATGC CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggcattgatgcAGATCGAGACCCGACGC chr11:65279162-Variant-A;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Variant A ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AAGCAGTTGCTT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattAcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagcagttgcttAGATCGAGACCCGACGC chr11:65279162-Variant-A;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative T ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa GCCGATAGCTGT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgccgatagctgtAGATCGAGACCCGACGC chr11:65279162-Alternative-T;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative T ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AATAGTGCGCGC CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaatagtgcgcgcAGATCGAGACCCGACGC chr11:65279162-Alternative-T;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative T ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa GGAACGGATGCT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggaacggatgctAGATCGAGACCCGACGC chr11:65279162-Alternative-T;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative T ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa AACTAAGCGTAC CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaactaagcgtacAGATCGAGACCCGACGC chr11:65279162-Alternative-T;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Alternative T ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CTAGTTGTGCGA CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattTcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActagttgtgcgaAGATCGAGACCCGACGC chr11:65279162-Alternative-T;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Reference G ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa GGTGTTATGCCG CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggtgttatgccgAGATCGAGACCCGACGC chr11:65279162-Reference-G;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Reference G ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CTATCTATCGAC CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActatctatcgacAGATCGAGACCCGACGC chr11:65279162-Reference-G;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Reference G ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CTATCCTTGCTT CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActatccttgcttAGATCGAGACCCGACGC chr11:65279162-Reference-G;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Reference G ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CTCTTCGTCGTC CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActcttcgtcgtcAGATCGAGACCCGACGC chr11:65279162-Reference-G;Patient-78 chr11:65279162-GA Inherited Patient-78 intergenic NA 0.000512821 0 2.58 0 SCYL1 13385 Reference G ttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaa CAGCGCTCTAAG CGACGCGGTCTCTCTCTttgcttgaaccagcgaggcagagattgcagtgagccgagatcatgccattGcactccagcctggccaacagtgagattccatctcaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcagcgctctaagAGATCGAGACCCGACGC chr11:65279162-Reference-G;Patient-78 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative A aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga CGGATCGAGAAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAcggatcgagaagAGATCGAGACCCGACGC chr11:65330671-Alternative-A;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative A aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga AATGCGTGGTTA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAaatgcgtggttaAGATCGAGACCCGACGC chr11:65330671-Alternative-A;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative A aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga CGTACGACGAAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAcgtacgacgaagAGATCGAGACCCGACGC chr11:65330671-Alternative-A;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Reference G aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga AATCTGCGATAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAaatctgcgatacAGATCGAGACCCGACGC chr11:65330671-Reference-G;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative A aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GAGCATCGTTAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAgagcatcgttatAGATCGAGACCCGACGC chr11:65330671-Alternative-A;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative C aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ATTGTGTTGGCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAattgtgttggcaAGATCGAGACCCGACGC chr11:65330671-Alternative-C;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative C aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ATAGTGCCGAGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAatagtgccgagtAGATCGAGACCCGACGC chr11:65330671-Alternative-C;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative A aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga CATAGGTCTTGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggAcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAcataggtcttgaAGATCGAGACCCGACGC chr11:65330671-Alternative-A;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative C aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GGACTCGTTACG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAggactcgttacgAGATCGAGACCCGACGC chr11:65330671-Alternative-C;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative C aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ACCTTCAGACCG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAaccttcagaccgAGATCGAGACCCGACGC chr11:65330671-Alternative-C;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Alternative C aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GCATATCGCGAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggCcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAgcatatcgcgacAGATCGAGACCCGACGC chr11:65330671-Alternative-C;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Reference G aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga AGAGCTCTGTCG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAagagctctgtcgAGATCGAGACCCGACGC chr11:65330671-Reference-G;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Reference G aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ATACTACACGGC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAatactacacggcAGATCGAGACCCGACGC chr11:65330671-Reference-G;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Variant T aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GGTTGTCGGTCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAggttgtcggtcaAGATCGAGACCCGACGC chr11:65330671-Variant-T;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Reference G aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga CGATAGTGGAGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAcgatagtggagaAGATCGAGACCCGACGC chr11:65330671-Reference-G;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Variant T aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GCACGCGGAATA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAgcacgcggaataAGATCGAGACCCGACGC chr11:65330671-Variant-T;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Variant T aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ATTGATGCACAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAattgatgcacagAGATCGAGACCCGACGC chr11:65330671-Variant-T;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Variant T aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga AACGAACGGACA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAaacgaacggacaAGATCGAGACCCGACGC chr11:65330671-Variant-T;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Variant T aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga ATTGAACGGAGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggTcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAattgaacggagaAGATCGAGACCCGACGC chr11:65330671-Variant-T;Patient-8 chr11:65330671-GT Inherited Patient-8 intergenic NA 0.000513 -0.11 1.28 0.15 RELA 99771 Reference G aaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatga GTGCGCATTATA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaaaaaaaaaaaaaaattagccgggcatgttggcggGcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaAGAGGGAGACGGACGTCTCAATAAgtgcgcattataAGATCGAGACCCGACGC chr11:65330671-Reference-G;Patient-8 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Reference G aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CACACAATCTGG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAcacacaatctggAGATCGAGACCCGACGC chr11:65636645-Reference-G;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative C aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GCGAGGATTACG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgcgaggattacgAGATCGAGACCCGACGC chr11:65636645-Alternative-C;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative C aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt ACGATCCTTGTC CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAacgatccttgtcAGATCGAGACCCGACGC chr11:65636645-Alternative-C;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Variant A aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt ATAGATATGCGC CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAatagatatgcgcAGATCGAGACCCGACGC chr11:65636645-Variant-A;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Variant A aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CTCTGGTGACGA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAActctggtgacgaAGATCGAGACCCGACGC chr11:65636645-Variant-A;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Variant A aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GCAGGTATCGTC CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgcaggtatcgtcAGATCGAGACCCGACGC chr11:65636645-Variant-A;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Variant A aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GATCCAATTAGG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgatccaattaggAGATCGAGACCCGACGC chr11:65636645-Variant-A;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Reference G aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CGCCGAATAACG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAcgccgaataacgAGATCGAGACCCGACGC chr11:65636645-Reference-G;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Reference G aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CTATACCTGCAT CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAActatacctgcatAGATCGAGACCCGACGC chr11:65636645-Reference-G;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Reference G aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CGTGAACAGCGA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAcgtgaacagcgaAGATCGAGACCCGACGC chr11:65636645-Reference-G;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Reference G aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GCGACTAAGTAA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgGgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgcgactaagtaaAGATCGAGACCCGACGC chr11:65636645-Reference-G;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative C aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GTTGGTTGTCGG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgttggttgtcggAGATCGAGACCCGACGC chr11:65636645-Alternative-C;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative T aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GATATGCGGTAA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgatatgcggtaaAGATCGAGACCCGACGC chr11:65636645-Alternative-T;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative T aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt AAGTGCTACCAT CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAaagtgctaccatAGATCGAGACCCGACGC chr11:65636645-Alternative-T;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative T aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt AATCGAGTGAAC CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAaatcgagtgaacAGATCGAGACCCGACGC chr11:65636645-Alternative-T;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative T aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt AACTAGTAACGG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAaactagtaacggAGATCGAGACCCGACGC chr11:65636645-Alternative-T;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative T aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CAAGCCGTACGA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgTgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAcaagccgtacgaAGATCGAGACCCGACGC chr11:65636645-Alternative-T;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative C aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt CGAGGTAGGTAA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAcgaggtaggtaaAGATCGAGACCCGACGC chr11:65636645-Alternative-C;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Alternative C aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt GCGTTGACAAGG CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgCgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAgcgttgacaaggAGATCGAGACCCGACGC chr11:65636645-Alternative-C;Patient-30 chr11:65636645-GA Inherited Patient-30 intronic EFEMP2 0.000223 4.19e-05 NA NA NA EFEMP2 3759 Variant A aaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggt ACCTGTCGATAA CGACGCGGTCTCTCTCTaaagcataacatagggggtacatgccagtttacagggtgtaagaagtctgAgatccagccctggccccatctcatcctggctgtatgagcttgggcgggtAGAGGGAGACGGACGTCTCAATAAacctgtcgataaAGATCGAGACCCGACGC chr11:65636645-Variant-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative A caacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc CGGATCGTCAGA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAcggatcgtcagaAGATCGAGACCCGACGC chr11:65700576-Alternative-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative A caacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GTCGACGTATCG CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgtcgacgtatcgAGATCGAGACCCGACGC chr11:65700576-Alternative-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative A caacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GGATCGCGTATC CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAggatcgcgtatcAGATCGAGACCCGACGC chr11:65700576-Alternative-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative A caacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc AGTATCGGCATT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAagtatcggcattAGATCGAGACCCGACGC chr11:65700576-Alternative-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative A caacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GCCTGCCGATTA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatAgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgcctgccgattaAGATCGAGACCCGACGC chr11:65700576-Alternative-A;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Reference C caacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc AGTGCTCGACGT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAagtgctcgacgtAGATCGAGACCCGACGC chr11:65700576-Reference-C;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Reference C caacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GGTAGAATCAGG CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAggtagaatcaggAGATCGAGACCCGACGC chr11:65700576-Reference-C;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Reference C caacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc AATCTCAGCGAT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAaatctcagcgatAGATCGAGACCCGACGC chr11:65700576-Reference-C;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Reference C caacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GCGAGATTGAGT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgcgagattgagtAGATCGAGACCCGACGC chr11:65700576-Reference-C;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Reference C caacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GAATATAGCGCA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatCgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgaatatagcgcaAGATCGAGACCCGACGC chr11:65700576-Reference-C;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Variant T caacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GGAGATGTTATC CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAggagatgttatcAGATCGAGACCCGACGC chr11:65700576-Variant-T;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Variant T caacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc ACCGTTGGATGC CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAaccgttggatgcAGATCGAGACCCGACGC chr11:65700576-Variant-T;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Variant T caacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc CGCCAACACGAA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAcgccaacacgaaAGATCGAGACCCGACGC chr11:65700576-Variant-T;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Variant T caacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc ACTAACGGCTTA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAactaacggcttaAGATCGAGACCCGACGC chr11:65700576-Variant-T;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Variant T caacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GTATCTCCGCAA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatTgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgtatctccgcaaAGATCGAGACCCGACGC chr11:65700576-Variant-T;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative G caacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc AAGTACCTGTCA CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAaagtacctgtcaAGATCGAGACCCGACGC chr11:65700576-Alternative-G;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative G caacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc AAGTCGCTTGCT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAaagtcgcttgctAGATCGAGACCCGACGC chr11:65700576-Alternative-G;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative G caacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GGATCGCTTCCT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAggatcgcttcctAGATCGAGACCCGACGC chr11:65700576-Alternative-G;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative G caacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GCAGCTTGCTTC CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgcagcttgcttcAGATCGAGACCCGACGC chr11:65700576-Alternative-G;Patient-30 chr11:65700576-CT Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA FOSL1 32578 Alternative G caacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaacccc GACCGATACGCT CGACGCGGTCTCTCTCTcaacctgggcacagtggcacacacctgtagtcccagctactcaataggatGgttctagcccaggaatttgagtccagtctgagcaacatagcaaaaccccAGAGGGAGACGGACGTCTCAATAAgaccgatacgctAGATCGAGACCCGACGC chr11:65700576-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative G ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtaga GCATCTGCCACT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAgcatctgccactAGATCGAGACCCGACGC chr11:65709765-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Reference C ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CGGTATCCTTCG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcggtatccttcgAGATCGAGACCCGACGC chr11:65709765-Reference-C;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Reference C ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtaga AGGAGTCAAGCG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAaggagtcaagcgAGATCGAGACCCGACGC chr11:65709765-Reference-C;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Reference C ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CTTGCGTGGTCA CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAActtgcgtggtcaAGATCGAGACCCGACGC chr11:65709765-Reference-C;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Reference C ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtaga GTCGCAACATCG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAgtcgcaacatcgAGATCGAGACCCGACGC chr11:65709765-Reference-C;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative G ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CGTCTGTTCGAC CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcgtctgttcgacAGATCGAGACCCGACGC chr11:65709765-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative G ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CTGGTCATGTGG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAActggtcatgtggAGATCGAGACCCGACGC chr11:65709765-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative G ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtaga ACTCGCTCTAAT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAactcgctctaatAGATCGAGACCCGACGC chr11:65709765-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative G ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtaga AATCTGACTGGT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgGgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAaatctgactggtAGATCGAGACCCGACGC chr11:65709765-Alternative-G;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative T ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtaga GTCGTAGCATGC CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAgtcgtagcatgcAGATCGAGACCCGACGC chr11:65709765-Alternative-T;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative T ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtaga AGCTATCCGACT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAagctatccgactAGATCGAGACCCGACGC chr11:65709765-Alternative-T;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative T ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtaga AAGTTCAAGCGT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAaagttcaagcgtAGATCGAGACCCGACGC chr11:65709765-Alternative-T;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative T ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtaga GTATCGTCCGTC CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAgtatcgtccgtcAGATCGAGACCCGACGC chr11:65709765-Alternative-T;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Reference C ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CGCTAAGACATA CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgCgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcgctaagacataAGATCGAGACCCGACGC chr11:65709765-Reference-C;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Alternative T ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CAGGATAGCATA CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgTgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcaggatagcataAGATCGAGACCCGACGC chr11:65709765-Alternative-T;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Variant A ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CAACATCGTACG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcaacatcgtacgAGATCGAGACCCGACGC chr11:65709765-Variant-A;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Variant A ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtaga AACTAACGCGGC CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAaactaacgcggcAGATCGAGACCCGACGC chr11:65709765-Variant-A;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Variant A ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtaga ATTCGTCACGAT CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAattcgtcacgatAGATCGAGACCCGACGC chr11:65709765-Variant-A;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Variant A ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtaga ACGTAGGTGACG CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAacgtaggtgacgAGATCGAGACCCGACGC chr11:65709765-Variant-A;Patient-30 chr11:65709765-CA Inherited Patient-30 intergenic 0.000648 0.00205 NA NA NA FOSL1 41767 Variant A ccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtaga CAGATCTCGAAC CGACGCGGTCTCTCTCTccgcctgcctcagcctcctaaagtgctgggattacaggtgtgagccactgAgtccagctgggctctattcttcacagaatcacactggttgctgagtagaAGAGGGAGACGGACGTCTCAATAAcagatctcgaacAGATCGAGACCCGACGC chr11:65709765-Variant-A;Patient-30 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Variant T agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca AGCATACGCGAG CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAagcatacgcgagAGATCGAGACCCGACGC chr11:65845242-Variant-T;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Variant T agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GTAGCGCTCCAT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgtagcgctccatAGATCGAGACCCGACGC chr11:65845242-Variant-T;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Variant T agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca AGAAGTTCGAAC CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAagaagttcgaacAGATCGAGACCCGACGC chr11:65845242-Variant-T;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative G agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GTCCGCGACATT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgtccgcgacattAGATCGAGACCCGACGC chr11:65845242-Alternative-G;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative A agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CTTAGCGGAAGG CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActtagcggaaggAGATCGAGACCCGACGC chr11:65845242-Alternative-A;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative A agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca ACTCACGATATC CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAactcacgatatcAGATCGAGACCCGACGC chr11:65845242-Alternative-A;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Variant T agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GGCTCACGTACA CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggctcacgtacaAGATCGAGACCCGACGC chr11:65845242-Variant-T;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Reference C agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GATCGCTCTGCT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgatcgctctgctAGATCGAGACCCGACGC chr11:65845242-Reference-C;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Variant T agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca ATCGCAACTAGA CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctTggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAatcgcaactagaAGATCGAGACCCGACGC chr11:65845242-Variant-T;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Reference C agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CTCTATGGTTCA CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActctatggttcaAGATCGAGACCCGACGC chr11:65845242-Reference-C;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Reference C agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca ATACCGGATATC CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAataccggatatcAGATCGAGACCCGACGC chr11:65845242-Reference-C;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative A agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CTAACAACACCG CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActaacaacaccgAGATCGAGACCCGACGC chr11:65845242-Alternative-A;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Reference C agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CGAGTGAACTTC CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgagtgaacttcAGATCGAGACCCGACGC chr11:65845242-Reference-C;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative A agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GCAAGGCTTGCT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgcaaggcttgctAGATCGAGACCCGACGC chr11:65845242-Alternative-A;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative A agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GGCGTAAGTATT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctAggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggcgtaagtattAGATCGAGACCCGACGC chr11:65845242-Alternative-A;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Reference C agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CGTTGATTAACG CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctCggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgttgattaacgAGATCGAGACCCGACGC chr11:65845242-Reference-C;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative G agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GGCGTGTAGTCA CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggcgtgtagtcaAGATCGAGACCCGACGC chr11:65845242-Alternative-G;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative G agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GTTGAGAAGCGG CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgttgagaagcggAGATCGAGACCCGACGC chr11:65845242-Alternative-G;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative G agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca GATAGGAGTCGC CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgataggagtcgcAGATCGAGACCCGACGC chr11:65845242-Alternative-G;Patient-104 chr11:65845242-CT DeNovo Patient-104 intronic PACS1 NA 0.000193181 -0.36 0.24 -1.29 PACS1 7417 Alternative G agacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctca CTCGTTACGCGT CGACGCGGTCTCTCTCTagacggagttttgctcttgtcacctaggctggagtgtaaaggcgcagtctGggctcacggaaacctccgcctccgaggttcaagcaattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActcgttacgcgtAGATCGAGACCCGACGC chr11:65845242-Alternative-G;Patient-104 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative T tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc ATAGATAGACCG CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAatagatagaccgAGATCGAGACCCGACGC chr11:65852461-Alternative-T;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Variant G tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CAACGGAGTGAA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcaacggagtgaaAGATCGAGACCCGACGC chr11:65852461-Variant-G;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative T tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CGCGATAATGAA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcgcgataatgaaAGATCGAGACCCGACGC chr11:65852461-Alternative-T;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative T tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc AGTACTAGCGCG CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAagtactagcgcgAGATCGAGACCCGACGC chr11:65852461-Alternative-T;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Variant G tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CATTACCGACTT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcattaccgacttAGATCGAGACCCGACGC chr11:65852461-Variant-G;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative C tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc AATCGGAACAGT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAaatcggaacagtAGATCGAGACCCGACGC chr11:65852461-Alternative-C;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Variant G tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc GTCATGGTGATT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAgtcatggtgattAGATCGAGACCCGACGC chr11:65852461-Variant-G;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Reference A tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CTTGGTTCAGAA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAActtggttcagaaAGATCGAGACCCGACGC chr11:65852461-Reference-A;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative C tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc GTCGAATCGTCG CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAgtcgaatcgtcgAGATCGAGACCCGACGC chr11:65852461-Alternative-C;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative C tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CGAGCGATAGCA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcgagcgatagcaAGATCGAGACCCGACGC chr11:65852461-Alternative-C;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative T tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc ACAGCAACGAGA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAacagcaacgagaAGATCGAGACCCGACGC chr11:65852461-Alternative-T;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Reference A tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CGTCTTCGAATT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcgtcttcgaattAGATCGAGACCCGACGC chr11:65852461-Reference-A;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Reference A tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc GGCCGTCGTAAT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAggccgtcgtaatAGATCGAGACCCGACGC chr11:65852461-Reference-A;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Variant G tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc ATTGATCGACAG CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAattgatcgacagAGATCGAGACCCGACGC chr11:65852461-Variant-G;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Variant G tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc ACTCGTACTCAT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaGtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAactcgtactcatAGATCGAGACCCGACGC chr11:65852461-Variant-G;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative T tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CGTCTGGTTCGT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaTtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcgtctggttcgtAGATCGAGACCCGACGC chr11:65852461-Alternative-T;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Reference A tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc GAGTGTTGGATA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAgagtgttggataAGATCGAGACCCGACGC chr11:65852461-Reference-A;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Reference A tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CGGCCAATGTTC CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaAtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcggccaatgttcAGATCGAGACCCGACGC chr11:65852461-Reference-A;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative C tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc CAAGGTTCGGCA CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAcaaggttcggcaAGATCGAGACCCGACGC chr11:65852461-Alternative-C;Patient-68 chr11:65852461-AG Inherited Patient-68 intronic PACS1 0.000127 9.9e-05 -0.51 0.08 -7.55 PACS1 14636 Alternative C tcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgc AGGTGACTTCAT CGACGCGGTCTCTCTCTtcttcttatgctttaggccacagtgatgctgtgggaatggctgagtctcaCtatccctaattactctgctgttgtgtttgctgtctggtgtcccctctgcAGAGGGAGACGGACGTCTCAATAAaggtgacttcatAGATCGAGACCCGACGC chr11:65852461-Alternative-C;Patient-68 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Variant T aggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CGATAGATGAGT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcgatagatgagtAGATCGAGACCCGACGC chr11:66208496-Variant-T;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Variant T aggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc AGTGTCTGACTA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAagtgtctgactaAGATCGAGACCCGACGC chr11:66208496-Variant-T;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Variant T aggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CGGAATGACGCT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcggaatgacgctAGATCGAGACCCGACGC chr11:66208496-Variant-T;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Variant T aggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GGACTTATTCCT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAggacttattcctAGATCGAGACCCGACGC chr11:66208496-Variant-T;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative A aggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GGTGAGTGCTTC CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAggtgagtgcttcAGATCGAGACCCGACGC chr11:66208496-Alternative-A;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative A aggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc AGGAACTTAACG CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAaggaacttaacgAGATCGAGACCCGACGC chr11:66208496-Alternative-A;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative A aggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc ATCACGCATCGA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAatcacgcatcgaAGATCGAGACCCGACGC chr11:66208496-Alternative-A;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative A aggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GGTGTTGTAAGA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAggtgttgtaagaAGATCGAGACCCGACGC chr11:66208496-Alternative-A;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative G aggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GATACTGCTGCG CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgatactgctgcgAGATCGAGACCCGACGC chr11:66208496-Alternative-G;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative G aggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GCATTCGGCTGA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgcattcggctgaAGATCGAGACCCGACGC chr11:66208496-Alternative-G;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Variant T aggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CGCAATCAGATA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcTgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcgcaatcagataAGATCGAGACCCGACGC chr11:66208496-Variant-T;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Reference C aggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc AACTATGCGGCG CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAaactatgcggcgAGATCGAGACCCGACGC chr11:66208496-Reference-C;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Reference C aggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CAATGCGCATAA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcaatgcgcataaAGATCGAGACCCGACGC chr11:66208496-Reference-C;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative G aggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GTAACTACGTAC CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgtaactacgtacAGATCGAGACCCGACGC chr11:66208496-Alternative-G;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Reference C aggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GAGCCTTGAGCT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgagccttgagctAGATCGAGACCCGACGC chr11:66208496-Reference-C;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative A aggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CGTGCTGTAGGT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcAgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcgtgctgtaggtAGATCGAGACCCGACGC chr11:66208496-Alternative-A;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative G aggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GCGAACCTACCT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgcgaacctacctAGATCGAGACCCGACGC chr11:66208496-Alternative-G;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Reference C aggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CTTATGATGCGA CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAActtatgatgcgaAGATCGAGACCCGACGC chr11:66208496-Reference-C;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Reference C aggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc CGTCAATCCTAC CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcCgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAcgtcaatcctacAGATCGAGACCCGACGC chr11:66208496-Reference-C;Patient-1 chr11:66208496-CT DeNovo Patient-1 intergenic 3.2e-05 0.000513 -0.15 1 0.05 MRPL11 2185 Alternative G aggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggccc GAATCAGCGAGT CGACGCGGTCTCTCTCTaggtgctaagccccttactgcccggggccggtggggccggccggccgctcGgagtgcggggtctgccgagcccacgcccacccggaacttgcgctggcccAGAGGGAGACGGACGTCTCAATAAgaatcagcgagtAGATCGAGACCCGACGC chr11:66208496-Alternative-G;Patient-1 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative G ctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AGGTTATCTGCA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaggttatctgcaAGATCGAGACCCGACGC chr11:66288696-Alternative-G;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Variant T ctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag CGTAATGCCAAG CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAcgtaatgccaagAGATCGAGACCCGACGC chr11:66288696-Variant-T;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Variant T ctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AGCGCACATAGT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAagcgcacatagtAGATCGAGACCCGACGC chr11:66288696-Variant-T;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative A ctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag ACCGGCTGTCTT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaccggctgtcttAGATCGAGACCCGACGC chr11:66288696-Alternative-A;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Variant T ctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag CACTAGCGTCCT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAcactagcgtcctAGATCGAGACCCGACGC chr11:66288696-Variant-T;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Variant T ctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag GATTGACGGCGA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAgattgacggcgaAGATCGAGACCCGACGC chr11:66288696-Variant-T;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Variant T ctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AACAGCTGCGTT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaTgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaacagctgcgttAGATCGAGACCCGACGC chr11:66288696-Variant-T;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Reference C ctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AACTCTCGCGCA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaactctcgcgcaAGATCGAGACCCGACGC chr11:66288696-Reference-C;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative A ctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag CTCGGCAGTACA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAActcggcagtacaAGATCGAGACCCGACGC chr11:66288696-Alternative-A;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative A ctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag CAGCACACGGAA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAcagcacacggaaAGATCGAGACCCGACGC chr11:66288696-Alternative-A;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative A ctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag GCATAGTACGAA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAgcatagtacgaaAGATCGAGACCCGACGC chr11:66288696-Alternative-A;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Reference C ctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AACCGGTATGTT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaaccggtatgttAGATCGAGACCCGACGC chr11:66288696-Reference-C;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative A ctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag GACCTGGCTAGT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaAgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAgacctggctagtAGATCGAGACCCGACGC chr11:66288696-Alternative-A;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Reference C ctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AGGTACTGCATC CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaggtactgcatcAGATCGAGACCCGACGC chr11:66288696-Reference-C;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative G ctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag ATCGGTTGAGAT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAatcggttgagatAGATCGAGACCCGACGC chr11:66288696-Alternative-G;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Reference C ctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag GCGCATGCTCTA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAgcgcatgctctaAGATCGAGACCCGACGC chr11:66288696-Reference-C;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative G ctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AATCTGGCATCA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAaatctggcatcaAGATCGAGACCCGACGC chr11:66288696-Alternative-G;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative G ctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag CGCGATAGCCTA CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAcgcgatagcctaAGATCGAGACCCGACGC chr11:66288696-Alternative-G;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Reference C ctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag GTGGCTTAGTAT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaCgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAgtggcttagtatAGATCGAGACCCGACGC chr11:66288696-Reference-C;Patient-80 chr11:66288696-CT DeNovo Patient-80 intronic BBS1 2.1e-05 9.47e-05 -0.16 0.91 -1.74 BBS1 10576 Alternative G ctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgag AGCATAAGGTGT CGACGCGGTCTCTCTCTctttagaccaggcactcactcagaggagttactgacagggcagggagggaGgggggctccagagaaattggagtgtttgcgcttcttgtttgcagatgagAGAGGGAGACGGACGTCTCAATAAagcataaggtgtAGATCGAGACCCGACGC chr11:66288696-Alternative-G;Patient-80 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Variant A aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactggg ATACGGACGGCA CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAatacggacggcaAGATCGAGACCCGACGC chr11:66776906-Variant-A;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Variant A aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactggg AAGACGTCGCGT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAaagacgtcgcgtAGATCGAGACCCGACGC chr11:66776906-Variant-A;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Variant A aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GGACGACAACAC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAggacgacaacacAGATCGAGACCCGACGC chr11:66776906-Variant-A;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative C aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GCGGATGATAAC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgcggatgataacAGATCGAGACCCGACGC chr11:66776906-Alternative-C;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Variant A aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactggg AGCGGACTTCCT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAagcggacttcctAGATCGAGACCCGACGC chr11:66776906-Variant-A;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative C aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GTGGCCGAAGAA CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgtggccgaagaaAGATCGAGACCCGACGC chr11:66776906-Alternative-C;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Variant A aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GTATCAAGGCAA CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagAtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgtatcaaggcaaAGATCGAGACCCGACGC chr11:66776906-Variant-A;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative C aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GCGCGCGAATAA CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgcgcgcgaataaAGATCGAGACCCGACGC chr11:66776906-Alternative-C;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative C aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactggg CGGCTAACTACC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAcggctaactaccAGATCGAGACCCGACGC chr11:66776906-Alternative-C;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Reference G aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactggg AGCGTGTTGCGT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAagcgtgttgcgtAGATCGAGACCCGACGC chr11:66776906-Reference-G;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative T aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GCATATGCGTCC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgcatatgcgtccAGATCGAGACCCGACGC chr11:66776906-Alternative-T;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative T aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactggg ACTTAGAGGCGG CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAacttagaggcggAGATCGAGACCCGACGC chr11:66776906-Alternative-T;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative T aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GTAACGCTGTGC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgtaacgctgtgcAGATCGAGACCCGACGC chr11:66776906-Alternative-T;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative C aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactggg ATAGTCGCACAT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagCtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAatagtcgcacatAGATCGAGACCCGACGC chr11:66776906-Alternative-C;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Reference G aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactggg ATTCGGTATGGT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAattcggtatggtAGATCGAGACCCGACGC chr11:66776906-Reference-G;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative T aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactggg AGTTCTGTGTTC CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAagttctgtgttcAGATCGAGACCCGACGC chr11:66776906-Alternative-T;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Reference G aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactggg GATGACGAACAG CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAgatgacgaacagAGATCGAGACCCGACGC chr11:66776906-Reference-G;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Reference G aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactggg CTAATGCCGCGT CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAActaatgccgcgtAGATCGAGACCCGACGC chr11:66776906-Reference-G;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Alternative T aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactggg ACTACCATAACG CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagTtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAactaccataacgAGATCGAGACCCGACGC chr11:66776906-Alternative-T;Patient-29 chr11:66776906-GA DeNovo Patient-29 intergenic NA 0.000513 0.08 3.99 0.39 PC 51058 Reference G aggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactggg AAGTAGCTTAGG CGACGCGGTCTCTCTCTaggctcaagcaattctcatgcctcagcctcccaagtagctaggactacagGtatgtgcccccacacctggctaacttttgtatttttagtagagactgggAGAGGGAGACGGACGTCTCAATAAaagtagcttaggAGATCGAGACCCGACGC chr11:66776906-Reference-G;Patient-29 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative G tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata GACGCAGTTCGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAgacgcagttcgtAGATCGAGACCCGACGC chr11:66971850-Alternative-G;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative G tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CTCAACAATACG CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAActcaacaatacgAGATCGAGACCCGACGC chr11:66971850-Alternative-G;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative G tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata GTAGCGGCAAGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAgtagcggcaagtAGATCGAGACCCGACGC chr11:66971850-Alternative-G;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative G tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata AATAGCGCCAGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAaatagcgccagtAGATCGAGACCCGACGC chr11:66971850-Alternative-G;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Variant T tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CGCATACTTACA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcgcatacttacaAGATCGAGACCCGACGC chr11:66971850-Variant-T;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative G tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata ACGAACAGAGAA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaGaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAacgaacagagaaAGATCGAGACCCGACGC chr11:66971850-Alternative-G;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Reference C tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata AGTGTACTTGGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAagtgtacttggtAGATCGAGACCCGACGC chr11:66971850-Reference-C;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative A tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata AGCGGTGTACCT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAagcggtgtacctAGATCGAGACCCGACGC chr11:66971850-Alternative-A;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Reference C tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CACATACTCAGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcacatactcagtAGATCGAGACCCGACGC chr11:66971850-Reference-C;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Variant T tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CGGCATATTGCA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcggcatattgcaAGATCGAGACCCGACGC chr11:66971850-Variant-T;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Reference C tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CGTTCCGACATC CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcgttccgacatcAGATCGAGACCCGACGC chr11:66971850-Reference-C;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Reference C tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata GAATGACTGGAA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAgaatgactggaaAGATCGAGACCCGACGC chr11:66971850-Reference-C;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Variant T tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata GAGCTAGATAAG CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAgagctagataagAGATCGAGACCCGACGC chr11:66971850-Variant-T;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Reference C tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CGGCTATTATCG CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaCaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcggctattatcgAGATCGAGACCCGACGC chr11:66971850-Reference-C;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Variant T tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata AGCCGCTAGCAA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAagccgctagcaaAGATCGAGACCCGACGC chr11:66971850-Variant-T;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative A tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CAGCGGAGTAGT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcagcggagtagtAGATCGAGACCCGACGC chr11:66971850-Alternative-A;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Variant T tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata GCCAGGCCAATA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaTaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAgccaggccaataAGATCGAGACCCGACGC chr11:66971850-Variant-T;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative A tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CACGATAGCGAT CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcacgatagcgatAGATCGAGACCCGACGC chr11:66971850-Alternative-A;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative A tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CAGGTGGCTACA CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcaggtggctacaAGATCGAGACCCGACGC chr11:66971850-Alternative-A;Patient-22 chr11:66971850-CT DeNovo Patient-22 intronic KDM2A NA 4.95e-05 0.05 3.43 0.9 GRK2 62054 Alternative A tacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcata CGATATTGCGGC CGACGCGGTCTCTCTCTtacctttgagcagtcattctccgttttctcctccacttaactcctggcaaAaacaaatctattctgtcttggtgaatttgtctaatctgtatatttcataAGAGGGAGACGGACGTCTCAATAAcgatattgcggcAGATCGAGACCCGACGC chr11:66971850-Alternative-A;Patient-22 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative C ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GATGCGAATAAG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgatgcgaataagAGATCGAGACCCGACGC chr11:67477811-Alternative-C;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative C ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GTGTTCGATCGG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgtgttcgatcggAGATCGAGACCCGACGC chr11:67477811-Alternative-C;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Variant A ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CGAGGTAGCAGA CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAcgaggtagcagaAGATCGAGACCCGACGC chr11:67477811-Variant-A;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative T ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GGTCGATATGGT CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAggtcgatatggtAGATCGAGACCCGACGC chr11:67477811-Alternative-T;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative T ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaac ACCTGAAGTGAT CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAacctgaagtgatAGATCGAGACCCGACGC chr11:67477811-Alternative-T;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative C ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GCACGCCGATAT CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgcacgccgatatAGATCGAGACCCGACGC chr11:67477811-Alternative-C;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Variant A ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GTTATAGTCCGA CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgttatagtccgaAGATCGAGACCCGACGC chr11:67477811-Variant-A;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative T ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaac AGATTCATGCCA CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAagattcatgccaAGATCGAGACCCGACGC chr11:67477811-Alternative-T;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative C ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GGCGGATGATAC CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAggcggatgatacAGATCGAGACCCGACGC chr11:67477811-Alternative-C;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Variant A ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CGGACTTCGTAC CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAcggacttcgtacAGATCGAGACCCGACGC chr11:67477811-Variant-A;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Variant A ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GGTAAGGTTCGG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAggtaaggttcggAGATCGAGACCCGACGC chr11:67477811-Variant-A;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Reference G ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaac ATAGATAGCGAC CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAatagatagcgacAGATCGAGACCCGACGC chr11:67477811-Reference-G;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Reference G ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GTGTCGTTCAGG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgtgtcgttcaggAGATCGAGACCCGACGC chr11:67477811-Reference-G;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative T ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaac AGAACGAATTGC CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAagaacgaattgcAGATCGAGACCCGACGC chr11:67477811-Alternative-T;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Reference G ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CTGGCAGTATGA CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAActggcagtatgaAGATCGAGACCCGACGC chr11:67477811-Reference-G;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative T ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaac GATAGGCTTGTT CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctTtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAgataggcttgttAGATCGAGACCCGACGC chr11:67477811-Alternative-T;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Variant A ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CTACGCAACACG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctAtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAActacgcaacacgAGATCGAGACCCGACGC chr11:67477811-Variant-A;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Reference G ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CGACTATCTGTT CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAcgactatctgttAGATCGAGACCCGACGC chr11:67477811-Reference-G;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Alternative C ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaac CGATGCTTGACG CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctCtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAcgatgcttgacgAGATCGAGACCCGACGC chr11:67477811-Alternative-C;Patient-35 chr11:67477811-GA DeNovo Patient-35 intergenic 0.000349 0.000513 -0.09 1.49 -0.3 ALDH3B2 29139 Reference G ctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaac ATCTTGGTCTAC CGACGCGGTCTCTCTCTctcacacactcaacagagaaggaaactgtggctcagatggcagactccctGtccaaggccacagagtctggccccagggaccactagaggcttcaagaacAGAGGGAGACGGACGTCTCAATAAatcttggtctacAGATCGAGACCCGACGC chr11:67477811-Reference-G;Patient-35 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Reference G ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CGAGTGGATAGA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAcgagtggatagaAGATCGAGACCCGACGC chr11:68166344-Reference-G;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Reference G ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CGAAGCACGTTC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAcgaagcacgttcAGATCGAGACCCGACGC chr11:68166344-Reference-G;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Reference G ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac AATGATGGCATC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAaatgatggcatcAGATCGAGACCCGACGC chr11:68166344-Reference-G;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative T ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GAATGCGGTGCA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAgaatgcggtgcaAGATCGAGACCCGACGC chr11:68166344-Alternative-T;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Variant A ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GTGCGATTCTGG CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAgtgcgattctggAGATCGAGACCCGACGC chr11:68166344-Variant-A;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Variant A ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GTACAAGATTGC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAgtacaagattgcAGATCGAGACCCGACGC chr11:68166344-Variant-A;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Variant A ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CAGCTAATAAGG CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAcagctaataaggAGATCGAGACCCGACGC chr11:68166344-Variant-A;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Reference G ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac ACCGATCTTAAC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAaccgatcttaacAGATCGAGACCCGACGC chr11:68166344-Reference-G;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative T ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac ATCGCTATGACA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAatcgctatgacaAGATCGAGACCCGACGC chr11:68166344-Alternative-T;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative C ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GGTGTCACACCT CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAggtgtcacacctAGATCGAGACCCGACGC chr11:68166344-Alternative-C;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative T ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GCAATCACGCGA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAgcaatcacgcgaAGATCGAGACCCGACGC chr11:68166344-Alternative-T;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Variant A ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CGTGTAACCTTC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAcgtgtaaccttcAGATCGAGACCCGACGC chr11:68166344-Variant-A;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Reference G ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GGATACAGTAGT CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacGggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAggatacagtagtAGATCGAGACCCGACGC chr11:68166344-Reference-G;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative C ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac GTGATCGAGCCA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAgtgatcgagccaAGATCGAGACCCGACGC chr11:68166344-Alternative-C;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Variant A ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac AGTGAGCGCCAA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacAggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAagtgagcgccaaAGATCGAGACCCGACGC chr11:68166344-Variant-A;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative T ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CTCTGAGTGTTA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAActctgagtgttaAGATCGAGACCCGACGC chr11:68166344-Alternative-T;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative T ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac AGCATGAGTCAA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacTggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAagcatgagtcaaAGATCGAGACCCGACGC chr11:68166344-Alternative-T;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative C ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CATCACTTGACA CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAcatcacttgacaAGATCGAGACCCGACGC chr11:68166344-Alternative-C;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative C ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac ATTGACGTCGAC CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAAattgacgtcgacAGATCGAGACCCGACGC chr11:68166344-Alternative-C;Patient-43 chr11:68166344-GA DeNovo Patient-43 intronic LRP5 9.6e-05 4.95e-05 -0.1 1.37 0.15 LRP5 86235 Alternative C ccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagac CTGCTTGGTTAT CGACGCGGTCTCTCTCTccaggctcaagcgatcctcctgtctcagcctcctgagtagcggggactacCggtgtgtgccaccaagcccggctaatttttttttaattttagtaaagacAGAGGGAGACGGACGTCTCAATAActgcttggttatAGATCGAGACCCGACGC chr11:68166344-Alternative-C;Patient-43 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Reference G tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GGCCATCGTGAA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAggccatcgtgaaAGATCGAGACCCGACGC chr11:685134-Reference-G;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Reference G tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GCAGTGTACTTA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgcagtgtacttaAGATCGAGACCCGACGC chr11:685134-Reference-G;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Variant T tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc AACTCCGATGTT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAaactccgatgttAGATCGAGACCCGACGC chr11:685134-Variant-T;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Variant T tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GTCGCTGTGAGT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgtcgctgtgagtAGATCGAGACCCGACGC chr11:685134-Variant-T;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Variant T tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GTGGCGGTTCAA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgtggcggttcaaAGATCGAGACCCGACGC chr11:685134-Variant-T;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Reference G tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ACCTGTTCATCA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAacctgttcatcaAGATCGAGACCCGACGC chr11:685134-Reference-G;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Variant T tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc AGTCGCTCCAAC CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAagtcgctccaacAGATCGAGACCCGACGC chr11:685134-Variant-T;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Variant T tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GGACGCGAATGT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgTagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAggacgcgaatgtAGATCGAGACCCGACGC chr11:685134-Variant-T;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative A tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ACTGCATCCATT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAactgcatccattAGATCGAGACCCGACGC chr11:685134-Alternative-A;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Reference G tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc CAGCTAATGACT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAcagctaatgactAGATCGAGACCCGACGC chr11:685134-Reference-G;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Reference G tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GTGCTCGACCAT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgGagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgtgctcgaccatAGATCGAGACCCGACGC chr11:685134-Reference-G;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative A tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc AGAGTCTCGCGA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAagagtctcgcgaAGATCGAGACCCGACGC chr11:685134-Alternative-A;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative A tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc CTCGCTGTTGCA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAActcgctgttgcaAGATCGAGACCCGACGC chr11:685134-Alternative-A;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative A tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GCAGAATATCAG CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgcagaatatcagAGATCGAGACCCGACGC chr11:685134-Alternative-A;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative A tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ATCATGCGGTAT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgAagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAatcatgcggtatAGATCGAGACCCGACGC chr11:685134-Alternative-A;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative C tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GTCCGTGTAACG CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgtccgtgtaacgAGATCGAGACCCGACGC chr11:685134-Alternative-C;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative C tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ATCATACGTTCG CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAatcatacgttcgAGATCGAGACCCGACGC chr11:685134-Alternative-C;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative C tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ACTCAATTCGCT CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAactcaattcgctAGATCGAGACCCGACGC chr11:685134-Alternative-C;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative C tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc GATCCAATACGG CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAgatccaatacggAGATCGAGACCCGACGC chr11:685134-Alternative-C;Patient-87 chr11:685134-GT Inherited Patient-87 intronic DEAF1 NA 0.000148 0.56 9.94 0.16 DEAF1 10605 Alternative C tttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgc ACGTTAGCATCA CGACGCGGTCTCTCTCTtttttttttttttttttttgagacagagtcttgttgggttgcccaggctgCagtgcagtggcacgttctcggctcagtgcaacctctgcctccccggcgcAGAGGGAGACGGACGTCTCAATAAacgttagcatcaAGATCGAGACCCGACGC chr11:685134-Alternative-C;Patient-87 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Reference G caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CGGCATGCTAAG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcggcatgctaagAGATCGAGACCCGACGC chr11:68547331-Reference-G;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Reference G caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa ACGCTGGTTATC CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAacgctggttatcAGATCGAGACCCGACGC chr11:68547331-Reference-G;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Reference G caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AGCGGCTATAAT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAagcggctataatAGATCGAGACCCGACGC chr11:68547331-Reference-G;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Reference G caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AGTGCGATTCGG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAagtgcgattcggAGATCGAGACCCGACGC chr11:68547331-Reference-G;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative T caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CTGTTATTGTGC CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAActgttattgtgcAGATCGAGACCCGACGC chr11:68547331-Alternative-T;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Variant A caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AGACCATAGCGT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAagaccatagcgtAGATCGAGACCCGACGC chr11:68547331-Variant-A;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative T caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa GCCAATGGATGG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAgccaatggatggAGATCGAGACCCGACGC chr11:68547331-Alternative-T;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative T caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CGGCCATATGCT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcggccatatgctAGATCGAGACCCGACGC chr11:68547331-Alternative-T;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative T caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CGTGTTACGGAG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcgtgttacggagAGATCGAGACCCGACGC chr11:68547331-Alternative-T;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative C caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa ATAGACAGTCGT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAatagacagtcgtAGATCGAGACCCGACGC chr11:68547331-Alternative-C;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative T caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CAGTTCTGTTGT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgTttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcagttctgttgtAGATCGAGACCCGACGC chr11:68547331-Alternative-T;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative C caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CTGTCGTAGTGG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAActgtcgtagtggAGATCGAGACCCGACGC chr11:68547331-Alternative-C;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Reference G caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AGGTGCGAAGCT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgGttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAaggtgcgaagctAGATCGAGACCCGACGC chr11:68547331-Reference-G;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Variant A caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CGATGACCTAAG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcgatgacctaagAGATCGAGACCCGACGC chr11:68547331-Variant-A;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Variant A caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AATGACCTACAC CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAaatgacctacacAGATCGAGACCCGACGC chr11:68547331-Variant-A;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Variant A caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa CAGCGTGTAAGG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAcagcgtgtaaggAGATCGAGACCCGACGC chr11:68547331-Variant-A;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative C caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa ATACCAACGGAC CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAataccaacggacAGATCGAGACCCGACGC chr11:68547331-Alternative-C;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative C caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AATAACTTGCCG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAaataacttgccgAGATCGAGACCCGACGC chr11:68547331-Alternative-C;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Variant A caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa AGCTGGTCTACG CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgAttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAagctggtctacgAGATCGAGACCCGACGC chr11:68547331-Variant-A;Patient-64 chr11:68547331-GA DeNovo Patient-64 intronic CPT1A NA 4.19e-05 0.06 3.53 0.47 CPT1A 62067 Alternative C caatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaa GGCGACACAGAT CGACGCGGTCTCTCTCTcaatggtagaggccaatccacaggtgcaggcagggggacaggggtttgtgCttttcaaataacctggtaattttaagaattaaaatgatgtcttaggtaaAGAGGGAGACGGACGTCTCAATAAggcgacacagatAGATCGAGACCCGACGC chr11:68547331-Alternative-C;Patient-64 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative G gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg ATACGTCTGGCG CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAatacgtctggcgAGATCGAGACCCGACGC chr11:68697283-Alternative-G;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative G gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CTCGCGAGAATC CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAActcgcgagaatcAGATCGAGACCCGACGC chr11:68697283-Alternative-G;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Variant T gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CGTTCGATTCTT CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAcgttcgattcttAGATCGAGACCCGACGC chr11:68697283-Variant-T;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative G gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CTGAGCAAGATA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAActgagcaagataAGATCGAGACCCGACGC chr11:68697283-Alternative-G;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative G gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg AGGTATTGTCGT CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAaggtattgtcgtAGATCGAGACCCGACGC chr11:68697283-Alternative-G;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative G gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GAGGTGGAGACA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacGggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgaggtggagacaAGATCGAGACCCGACGC chr11:68697283-Alternative-G;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative A gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg ACTCGCACTTCG CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAactcgcacttcgAGATCGAGACCCGACGC chr11:68697283-Alternative-A;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Variant T gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CGCATCTAGCGT CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAcgcatctagcgtAGATCGAGACCCGACGC chr11:68697283-Variant-T;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Reference C gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GAGGTAGATTCT CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgaggtagattctAGATCGAGACCCGACGC chr11:68697283-Reference-C;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Variant T gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GCCGTGTACTGA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgccgtgtactgaAGATCGAGACCCGACGC chr11:68697283-Variant-T;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Variant T gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CTTAACGGTGCG CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAActtaacggtgcgAGATCGAGACCCGACGC chr11:68697283-Variant-T;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Reference C gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg ACGAGATGTCCT CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAacgagatgtcctAGATCGAGACCCGACGC chr11:68697283-Reference-C;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Reference C gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg CATCGCGGTGAA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAcatcgcggtgaaAGATCGAGACCCGACGC chr11:68697283-Reference-C;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative A gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg AGGCCATCTAGG CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAaggccatctaggAGATCGAGACCCGACGC chr11:68697283-Alternative-A;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Variant T gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GATTATTGACCG CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacTggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgattattgaccgAGATCGAGACCCGACGC chr11:68697283-Variant-T;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Reference C gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GTACGACGATAA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgtacgacgataaAGATCGAGACCCGACGC chr11:68697283-Reference-C;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative A gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GATGTTCGCTAA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgatgttcgctaaAGATCGAGACCCGACGC chr11:68697283-Alternative-A;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Reference C gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg ATACGGTAGACA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacCggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAatacggtagacaAGATCGAGACCCGACGC chr11:68697283-Reference-C;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative A gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GTCGCACTAATA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAgtcgcactaataAGATCGAGACCCGACGC chr11:68697283-Alternative-A;Patient-105 chr11:68697283-CT DeNovo Patient-105 intronic IGHMBP2 0.000623 0.034539871 -0.11 1.35 -1.65 IGHMBP2 25963 Alternative A gggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactg GGTGGCTTGTCA CGACGCGGTCTCTCTCTgggcactgggcagagactcagcaaaccatggttctgccgtgcggagacacAggagccctgatgcagtggcctggcccaggctgtcctggtggagacactgAGAGGGAGACGGACGTCTCAATAAggtggcttgtcaAGATCGAGACCCGACGC chr11:68697283-Alternative-A;Patient-105 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative G atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GGTGTAGTGGCA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAggtgtagtggcaAGATCGAGACCCGACGC chr11:70941006-Alternative-G;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative A atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CACGAATACGAG CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAcacgaatacgagAGATCGAGACCCGACGC chr11:70941006-Alternative-A;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Reference T atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GGAACATTGTCA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAggaacattgtcaAGATCGAGACCCGACGC chr11:70941006-Reference-T;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative G atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CATTGAAGCCGT CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAcattgaagccgtAGATCGAGACCCGACGC chr11:70941006-Alternative-G;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Variant C atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GGTCATGTGATT CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAggtcatgtgattAGATCGAGACCCGACGC chr11:70941006-Variant-C;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Variant C atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CGTTGTATGTGA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAcgttgtatgtgaAGATCGAGACCCGACGC chr11:70941006-Variant-C;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Variant C atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GGTTCGTAGCGA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAggttcgtagcgaAGATCGAGACCCGACGC chr11:70941006-Variant-C;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative A atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat ACTACACGAGAA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAactacacgagaaAGATCGAGACCCGACGC chr11:70941006-Alternative-A;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative G atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CTCACGCCATGA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAActcacgccatgaAGATCGAGACCCGACGC chr11:70941006-Alternative-G;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative G atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CTGAGTAGCGAG CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAActgagtagcgagAGATCGAGACCCGACGC chr11:70941006-Alternative-G;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative A atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GGTATGTCAACT CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAggtatgtcaactAGATCGAGACCCGACGC chr11:70941006-Alternative-A;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative G atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CTGGTCGGCATA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaGgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAActggtcggcataAGATCGAGACCCGACGC chr11:70941006-Alternative-G;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Reference T atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat ACGGCTTGATTA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAacggcttgattaAGATCGAGACCCGACGC chr11:70941006-Reference-T;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative A atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GCGTTCAACCTA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAgcgttcaacctaAGATCGAGACCCGACGC chr11:70941006-Alternative-A;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Reference T atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CACACTAGGTTA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAcacactaggttaAGATCGAGACCCGACGC chr11:70941006-Reference-T;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Reference T atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat ACTCGGTCATAA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAactcggtcataaAGATCGAGACCCGACGC chr11:70941006-Reference-T;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Reference T atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GCGAGCGACTAA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaTgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAgcgagcgactaaAGATCGAGACCCGACGC chr11:70941006-Reference-T;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Alternative A atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat ACTAGGTACGAG CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaAgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAactaggtacgagAGATCGAGACCCGACGC chr11:70941006-Alternative-A;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Variant C atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat CGAATAGCTGTT CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAcgaatagctgttAGATCGAGACCCGACGC chr11:70941006-Variant-C;Patient-27 chr11:70941006-TC DeNovo Patient-27 intergenic 0.000319 0.000513 -0.12 1.21 -0.73 SHANK2 5197 Variant C atggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaat GCGACTACTATA CGACGCGGTCTCTCTCTatggattggaagactcaacatagtcagaaggtcaatttttcccaaactgaCgtgcaggtgatgatgatgaacacaattccagtcaaaatctcagcaaaatAGAGGGAGACGGACGTCTCAATAAgcgactactataAGATCGAGACCCGACGC chr11:70941006-Variant-C;Patient-27 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Reference G gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GTATCTCAGCGG CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAgtatctcagcggAGATCGAGACCCGACGC chr11:70949571-Reference-G;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Reference G gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CGCTAATGTAAC CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcgctaatgtaacAGATCGAGACCCGACGC chr11:70949571-Reference-G;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative C gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CTAGGCCGACTT CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAActaggccgacttAGATCGAGACCCGACGC chr11:70949571-Alternative-C;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Variant A gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GTGTCTCGAACG CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAgtgtctcgaacgAGATCGAGACCCGACGC chr11:70949571-Variant-A;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Variant A gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CGTAACAGACGC CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcgtaacagacgcAGATCGAGACCCGACGC chr11:70949571-Variant-A;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative C gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CGAGTTAACGAA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcgagttaacgaaAGATCGAGACCCGACGC chr11:70949571-Alternative-C;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative C gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca ATCGAATCGCTA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAatcgaatcgctaAGATCGAGACCCGACGC chr11:70949571-Alternative-C;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative C gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CATTCAGTACGA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcattcagtacgaAGATCGAGACCCGACGC chr11:70949571-Alternative-C;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative C gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CACAACTATGCT CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacCtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcacaactatgctAGATCGAGACCCGACGC chr11:70949571-Alternative-C;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Reference G gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GTCGTGTTATGA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAgtcgtgttatgaAGATCGAGACCCGACGC chr11:70949571-Reference-G;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Reference G gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca AAGCGTGTCTTA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAaagcgtgtcttaAGATCGAGACCCGACGC chr11:70949571-Reference-G;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative T gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GGCTACATCACG CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAggctacatcacgAGATCGAGACCCGACGC chr11:70949571-Alternative-T;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Variant A gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GGCGACTCTCAA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAggcgactctcaaAGATCGAGACCCGACGC chr11:70949571-Variant-A;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Variant A gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CGTGGTGTAACA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcgtggtgtaacaAGATCGAGACCCGACGC chr11:70949571-Variant-A;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Reference G gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CTCGGTACTAAT CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacGtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAActcggtactaatAGATCGAGACCCGACGC chr11:70949571-Reference-G;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative T gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GGATCACATACG CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAggatcacatacgAGATCGAGACCCGACGC chr11:70949571-Alternative-T;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative T gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GAGATCATGTGA CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAgagatcatgtgaAGATCGAGACCCGACGC chr11:70949571-Alternative-T;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative T gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca GGCAAGCATATC CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAggcaagcatatcAGATCGAGACCCGACGC chr11:70949571-Alternative-T;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Alternative T gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CTATGGCTGCCT CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacTtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAActatggctgcctAGATCGAGACCCGACGC chr11:70949571-Alternative-T;Patient-30 chr11:70949571-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA SHANK2 13762 Variant A gcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagccca CAGTTCTGTCAT CGACGCGGTCTCTCTCTgcctgtccaaggtcacacagcaacacagcagagctgctctgcaccgcaacAtaccacttactgaagcaaggaaaatgaacccaacactccccaaagcccaAGAGGGAGACGGACGTCTCAATAAcagttctgtcatAGATCGAGACCCGACGC chr11:70949571-Variant-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Variant T aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GCGTACTCATCG CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgcgtactcatcgAGATCGAGACCCGACGC chr11:70983459-Variant-T;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Variant T aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CTCTGATGACTT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAActctgatgacttAGATCGAGACCCGACGC chr11:70983459-Variant-T;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Variant T aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CGATGACTGTCG CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAcgatgactgtcgAGATCGAGACCCGACGC chr11:70983459-Variant-T;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative G aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GCGTACCGGATA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgcgtaccggataAGATCGAGACCCGACGC chr11:70983459-Alternative-G;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative G aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GGACATGCCACT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAggacatgccactAGATCGAGACCCGACGC chr11:70983459-Alternative-G;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Reference C aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GGCACCGTTAGT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAggcaccgttagtAGATCGAGACCCGACGC chr11:70983459-Reference-C;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Reference C aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GCAGGATACCAT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgcaggataccatAGATCGAGACCCGACGC chr11:70983459-Reference-C;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Reference C aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct ATAACGGCCATA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAataacggccataAGATCGAGACCCGACGC chr11:70983459-Reference-C;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Reference C aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct AATCGGACTGCG CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAaatcggactgcgAGATCGAGACCCGACGC chr11:70983459-Reference-C;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Reference C aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CTAGATTCGTGT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaCgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAActagattcgtgtAGATCGAGACCCGACGC chr11:70983459-Reference-C;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative A aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CATTACACCATC CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAcattacaccatcAGATCGAGACCCGACGC chr11:70983459-Alternative-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative A aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CACGCATACGCA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAcacgcatacgcaAGATCGAGACCCGACGC chr11:70983459-Alternative-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative A aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GAGTGCTAAGAA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgagtgctaagaaAGATCGAGACCCGACGC chr11:70983459-Alternative-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative A aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GAGCATGTATAC CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgagcatgtatacAGATCGAGACCCGACGC chr11:70983459-Alternative-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative A aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GTACGACCATCA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaAgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgtacgaccatcaAGATCGAGACCCGACGC chr11:70983459-Alternative-A;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Variant T aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CGGAGATCTAAT CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAcggagatctaatAGATCGAGACCCGACGC chr11:70983459-Variant-T;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Variant T aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct AGATCATCGAAG CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaTgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAagatcatcgaagAGATCGAGACCCGACGC chr11:70983459-Variant-T;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative G aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct CTTATACGGCAA CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAActtatacggcaaAGATCGAGACCCGACGC chr11:70983459-Alternative-G;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative G aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct ATAAGGATGACC CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAataaggatgaccAGATCGAGACCCGACGC chr11:70983459-Alternative-G;Patient-30 chr11:70983459-CT Inherited Patient-30 intergenic 0.000128 0.00103 NA NA NA SHANK2 47650 Alternative G aacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcct GAATGTCAACGC CGACGCGGTCTCTCTCTaacaaacatcccccactccaggtggcttagcacaacaacatgatttctcaGgtcatttatttttcactgtgggaagctgaccctccagagcaactgtcctAGAGGGAGACGGACGTCTCAATAAgaatgtcaacgcAGATCGAGACCCGACGC chr11:70983459-Alternative-G;Patient-30 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Variant T agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GTAGCGATCCAA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAgtagcgatccaaAGATCGAGACCCGACGC chr11:71098828-Variant-T;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative G agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AACGCCGCATCA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAaacgccgcatcaAGATCGAGACCCGACGC chr11:71098828-Alternative-G;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Variant T agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AGGCCATGCTGA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAaggccatgctgaAGATCGAGACCCGACGC chr11:71098828-Variant-T;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative G agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GTTCAACCGTAA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAgttcaaccgtaaAGATCGAGACCCGACGC chr11:71098828-Alternative-G;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative G agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GGCTATTAAGGT CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAggctattaaggtAGATCGAGACCCGACGC chr11:71098828-Alternative-G;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative A agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GTGCGAGACAGT CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAgtgcgagacagtAGATCGAGACCCGACGC chr11:71098828-Alternative-A;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Variant T agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct ATAGCACCTACA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAatagcacctacaAGATCGAGACCCGACGC chr11:71098828-Variant-T;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative G agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AACGTCGGTAGG CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAaacgtcggtaggAGATCGAGACCCGACGC chr11:71098828-Alternative-G;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative A agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct CAGTTACGAGAA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAcagttacgagaaAGATCGAGACCCGACGC chr11:71098828-Alternative-A;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative G agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GCGCATCACATC CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaGagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAgcgcatcacatcAGATCGAGACCCGACGC chr11:71098828-Alternative-G;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Variant T agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AGTAACGACCGG CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAagtaacgaccggAGATCGAGACCCGACGC chr11:71098828-Variant-T;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative A agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct CTCGTATGGACG CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAActcgtatggacgAGATCGAGACCCGACGC chr11:71098828-Alternative-A;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Variant T agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AGTTACTCGTCT CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaTagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAagttactcgtctAGATCGAGACCCGACGC chr11:71098828-Variant-T;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative A agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct CGGCGCTATAGA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAcggcgctatagaAGATCGAGACCCGACGC chr11:71098828-Alternative-A;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Alternative A agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct AACGTTGGTATC CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaAagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAaacgttggtatcAGATCGAGACCCGACGC chr11:71098828-Alternative-A;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Reference C agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct CACGCTTCGCTT CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAcacgcttcgcttAGATCGAGACCCGACGC chr11:71098828-Reference-C;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Reference C agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct ATTACGTGCGAG CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAattacgtgcgagAGATCGAGACCCGACGC chr11:71098828-Reference-C;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Reference C agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct CATCGTCGCTGT CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAcatcgtcgctgtAGATCGAGACCCGACGC chr11:71098828-Reference-C;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Reference C agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GGTTAACGCTTA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAggttaacgcttaAGATCGAGACCCGACGC chr11:71098828-Reference-C;Patient-75 chr11:71098828-CT DeNovo Patient-75 intergenic 0.000319 0.00205 0.23 6.23 0.05 DHCR7 60648 Reference C agtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgct GTTCACAGATCA CGACGCGGTCTCTCTCTagtcctgacatcctgacagtcccaacatcccaacagtcctgatattccaaCagtccccgacatcctgactgttctgacattccaacagtcccgacgtgctAGAGGGAGACGGACGTCTCAATAAgttcacagatcaAGATCGAGACCCGACGC chr11:71098828-Reference-C;Patient-75 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Reference C tctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac AGATGATCGGCG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAagatgatcggcgAGATCGAGACCCGACGC chr11:7135975-Reference-C;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Reference C tctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CGAAGTGCTACG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcgaagtgctacgAGATCGAGACCCGACGC chr11:7135975-Reference-C;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Reference C tctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac ACGTGTGGATAA CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAacgtgtggataaAGATCGAGACCCGACGC chr11:7135975-Reference-C;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative A tctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CTGCTATATCCA CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAActgctatatccaAGATCGAGACCCGACGC chr11:7135975-Alternative-A;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Variant T tctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac GTTAGCCGTACG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAgttagccgtacgAGATCGAGACCCGACGC chr11:7135975-Variant-T;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative A tctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac AGAATATGGTCG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAagaatatggtcgAGATCGAGACCCGACGC chr11:7135975-Alternative-A;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Reference C tctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac AAGTCCGGATCG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAaagtccggatcgAGATCGAGACCCGACGC chr11:7135975-Reference-C;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative A tctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CTACGAGGTACG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAActacgaggtacgAGATCGAGACCCGACGC chr11:7135975-Alternative-A;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative A tctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CAACATCTCGAT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcaacatctcgatAGATCGAGACCCGACGC chr11:7135975-Alternative-A;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Reference C tctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CAGTACAGTGAA CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaCtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcagtacagtgaaAGATCGAGACCCGACGC chr11:7135975-Reference-C;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative A tctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac AACGGTACACAC CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaAtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAaacggtacacacAGATCGAGACCCGACGC chr11:7135975-Alternative-A;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Variant T tctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac GTGGCCGTGATT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAgtggccgtgattAGATCGAGACCCGACGC chr11:7135975-Variant-T;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative G tctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CGTGGTCATGGT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcgtggtcatggtAGATCGAGACCCGACGC chr11:7135975-Alternative-G;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative G tctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac ACGTTCGAACTA CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAacgttcgaactaAGATCGAGACCCGACGC chr11:7135975-Alternative-G;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative G tctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CTAGTAGGTCCT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAActagtaggtcctAGATCGAGACCCGACGC chr11:7135975-Alternative-G;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Variant T tctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CGTCGCATCCAA CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcgtcgcatccaaAGATCGAGACCCGACGC chr11:7135975-Variant-T;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Variant T tctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac AACACCTACAGG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAaacacctacaggAGATCGAGACCCGACGC chr11:7135975-Variant-T;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative G tctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CTGCATTGAGAT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAActgcattgagatAGATCGAGACCCGACGC chr11:7135975-Alternative-G;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Alternative G tctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CGGCAGATATCG CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaGtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcggcagatatcgAGATCGAGACCCGACGC chr11:7135975-Alternative-G;Patient-105 chr11:7135975-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.23 0.57 -2.68 NLRP14 94274 Variant T tctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaac CAAGAGAGTCAT CGACGCGGTCTCTCTCTtctttcctacccaggttacattttatggttcaacttaatcacttcattaaTtcctttgtctctctcttgctctgatattttcacctggcaaaaccccaacAGAGGGAGACGGACGTCTCAATAAcaagagagtcatAGATCGAGACCCGACGC chr11:7135975-Variant-T;Patient-105 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Variant A tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GGATAGGATCGC CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAggataggatcgcAGATCGAGACCCGACGC chr11:71685065-Variant-A;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Variant A tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GCGGTACTAACT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgcggtactaactAGATCGAGACCCGACGC chr11:71685065-Variant-A;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Variant A tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga AGTTAGCGTCGT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAagttagcgtcgtAGATCGAGACCCGACGC chr11:71685065-Variant-A;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative T tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GGTTCCGTGACA CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAggttccgtgacaAGATCGAGACCCGACGC chr11:71685065-Alternative-T;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Variant A tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GAGTATCTTCGA CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgagtatcttcgaAGATCGAGACCCGACGC chr11:71685065-Variant-A;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Variant A tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga AGAGTAGGTCCT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactAcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAagagtaggtcctAGATCGAGACCCGACGC chr11:71685065-Variant-A;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative C tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GTGCTTCAACTT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgtgcttcaacttAGATCGAGACCCGACGC chr11:71685065-Alternative-C;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative T tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga CAAGTTCTGTTC CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAcaagttctgttcAGATCGAGACCCGACGC chr11:71685065-Alternative-T;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative T tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga AGTCGCGTCGAT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAagtcgcgtcgatAGATCGAGACCCGACGC chr11:71685065-Alternative-T;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative C tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GTCAAGACGGCA CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgtcaagacggcaAGATCGAGACCCGACGC chr11:71685065-Alternative-C;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative C tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga ACTCCAATAACG CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAactccaataacgAGATCGAGACCCGACGC chr11:71685065-Alternative-C;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative C tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GGTCGTGCAGTT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAggtcgtgcagttAGATCGAGACCCGACGC chr11:71685065-Alternative-C;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative C tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GTACCAACAACT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactCcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgtaccaacaactAGATCGAGACCCGACGC chr11:71685065-Alternative-C;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Reference G tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GCACGGATCCAA CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgcacggatccaaAGATCGAGACCCGACGC chr11:71685065-Reference-G;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Reference G tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga CTCTCGTCTAGG CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAActctcgtctaggAGATCGAGACCCGACGC chr11:71685065-Reference-G;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative T tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga CGCACGAACAGT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAcgcacgaacagtAGATCGAGACCCGACGC chr11:71685065-Alternative-T;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Alternative T tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga ATAGCGGAGTGT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactTcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAatagcggagtgtAGATCGAGACCCGACGC chr11:71685065-Alternative-T;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Reference G tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GTTGGCACTACG CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgttggcactacgAGATCGAGACCCGACGC chr11:71685065-Reference-G;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Reference G tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga ACCTAGTAAGTC CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAacctagtaagtcAGATCGAGACCCGACGC chr11:71685065-Reference-G;Patient-31 chr11:71685065-GA DeNovo Patient-31 intronic RNF121 NA 4.95e-05 -0.12 1.22 0 RNF121 45296 Reference G tcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctga GCAAGCTAGCTT CGACGCGGTCTCTCTCTtcttgctctttcacccaggccagactgcagtggcgctatctcggctcactGcaagctccgcctcccgggttcacgccattctcctgcctcagcctcctgaAGAGGGAGACGGACGTCTCAATAAgcaagctagcttAGATCGAGACCCGACGC chr11:71685065-Reference-G;Patient-31 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative C gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGTTCCGTGAGA CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgttccgtgagaAGATCGAGACCCGACGC chr11:71856987-Alternative-C;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative C gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GGCCAACAAGTC CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAggccaacaagtcAGATCGAGACCCGACGC chr11:71856987-Alternative-C;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative C gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc AGAACGGACAAC CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAagaacggacaacAGATCGAGACCCGACGC chr11:71856987-Alternative-C;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative C gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGACATCATATC CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgacatcatatcAGATCGAGACCCGACGC chr11:71856987-Alternative-C;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Reference A gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc AGTGTCGCATCG CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAagtgtcgcatcgAGATCGAGACCCGACGC chr11:71856987-Reference-A;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative T gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGCGTGCATACT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgcgtgcatactAGATCGAGACCCGACGC chr11:71856987-Alternative-T;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative C gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GTGAGGTTGACG CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacCctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgtgaggttgacgAGATCGAGACCCGACGC chr11:71856987-Alternative-C;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative T gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GATGCTTGATAC CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgatgcttgatacAGATCGAGACCCGACGC chr11:71856987-Alternative-T;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative T gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GTTGGTCTAAGT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgttggtctaagtAGATCGAGACCCGACGC chr11:71856987-Alternative-T;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Reference A gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc ACCTCATCTTCT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAacctcatcttctAGATCGAGACCCGACGC chr11:71856987-Reference-A;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative T gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGATCCGTTAAG CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgatccgttaagAGATCGAGACCCGACGC chr11:71856987-Alternative-T;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Variant G gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGCCAATAGGAT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgccaataggatAGATCGAGACCCGACGC chr11:71856987-Variant-G;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Reference A gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CAGCTCACGGAT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcagctcacggatAGATCGAGACCCGACGC chr11:71856987-Reference-A;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Reference A gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc ACGAGTCGTCGT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAacgagtcgtcgtAGATCGAGACCCGACGC chr11:71856987-Reference-A;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Variant G gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc CGTCGCGATGTT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAcgtcgcgatgttAGATCGAGACCCGACGC chr11:71856987-Variant-G;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Reference A gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GTGGCTACGAAG CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacActgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgtggctacgaagAGATCGAGACCCGACGC chr11:71856987-Reference-A;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Variant G gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GAGATGGTCGAC CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgagatggtcgacAGATCGAGACCCGACGC chr11:71856987-Variant-G;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Alternative T gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc ATACCAACCGTT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacTctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAataccaaccgttAGATCGAGACCCGACGC chr11:71856987-Alternative-T;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Variant G gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc GAGTCCTTACCT CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAgagtccttacctAGATCGAGACCCGACGC chr11:71856987-Variant-G;Patient-89 chr11:71856987-AG Inherited Patient-89 intergenic NA 0.000513 -0.33 0.3 -0.3 ANAPC15 33164 Variant G gatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgcc AGCATGTTCCAA CGACGCGGTCTCTCTCTgatcatttgaggtcaggagttcaagaccagcttggccaacatggcgaaacGctgtctttactaaaaatacaaaaattagccgggcatggtggcatgtgccAGAGGGAGACGGACGTCTCAATAAagcatgttccaaAGATCGAGACCCGACGC chr11:71856987-Variant-G;Patient-89 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative G acccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AATACGGTGTTC CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAaatacggtgttcAGATCGAGACCCGACGC chr11:72391467-Alternative-G;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative G acccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CGCTATGAAGCG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAcgctatgaagcgAGATCGAGACCCGACGC chr11:72391467-Alternative-G;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative G acccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AACTCTAATCGC CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAaactctaatcgcAGATCGAGACCCGACGC chr11:72391467-Alternative-G;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative G acccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CTTAGTCGGACA CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAActtagtcggacaAGATCGAGACCCGACGC chr11:72391467-Alternative-G;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Variant T acccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CATTACCATCGT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAcattaccatcgtAGATCGAGACCCGACGC chr11:72391467-Variant-T;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative G acccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AATCGCGGATAA CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagGtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAaatcgcggataaAGATCGAGACCCGACGC chr11:72391467-Alternative-G;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Reference A acccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CTGGTAGATCTA CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAActggtagatctaAGATCGAGACCCGACGC chr11:72391467-Reference-A;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Reference A acccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca GCAATGGCTTAT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAgcaatggcttatAGATCGAGACCCGACGC chr11:72391467-Reference-A;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Reference A acccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca GTTACGCCACAG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAgttacgccacagAGATCGAGACCCGACGC chr11:72391467-Reference-A;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Reference A acccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca GCGTTGTTCGCT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAgcgttgttcgctAGATCGAGACCCGACGC chr11:72391467-Reference-A;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative C acccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AACTCTAGCGTT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAaactctagcgttAGATCGAGACCCGACGC chr11:72391467-Alternative-C;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Variant T acccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AATGTACGCTGT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAaatgtacgctgtAGATCGAGACCCGACGC chr11:72391467-Variant-T;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Variant T acccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca ATTGACGGAGAT CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAattgacggagatAGATCGAGACCCGACGC chr11:72391467-Variant-T;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Variant T acccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CGAAGTGTTGCG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAcgaagtgttgcgAGATCGAGACCCGACGC chr11:72391467-Variant-T;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative C acccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CGACGGTACAAG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAcgacggtacaagAGATCGAGACCCGACGC chr11:72391467-Alternative-C;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Variant T acccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CTAGATGTGCGC CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagTtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAActagatgtgcgcAGATCGAGACCCGACGC chr11:72391467-Variant-T;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative C acccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca AGCTCGTCTTCG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAagctcgtcttcgAGATCGAGACCCGACGC chr11:72391467-Alternative-C;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Reference A acccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca GGAACAATAGCG CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagAtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAggaacaatagcgAGATCGAGACCCGACGC chr11:72391467-Reference-A;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative C acccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca CACATCACGGAA CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAcacatcacggaaAGATCGAGACCCGACGC chr11:72391467-Alternative-C;Patient-30 chr11:72391467-AT Inherited Patient-30 intergenic 0.000319 0.000512821 NA NA NA PDE2A 5969 Alternative C acccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagaca GTTACTCAGTAC CGACGCGGTCTCTCTCTacccaggctatgccccagatcctccccctacactcttaccggtaataaagCtgggattaaaagctttgccattcttttaaaagagcgcctgatggagacaAGAGGGAGACGGACGTCTCAATAAgttactcagtacAGATCGAGACCCGACGC chr11:72391467-Alternative-C;Patient-30 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Reference G tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GTGATACACACG CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgtgatacacacgAGATCGAGACCCGACGC chr11:73027757-Reference-G;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Reference G tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg AGATCGCCTACA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAagatcgcctacaAGATCGAGACCCGACGC chr11:73027757-Reference-G;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative T tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ATACGAGCGACG CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAatacgagcgacgAGATCGAGACCCGACGC chr11:73027757-Alternative-T;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Variant A tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GTGCTCCGTAAT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgtgctccgtaatAGATCGAGACCCGACGC chr11:73027757-Variant-A;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Reference G tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GCCGCTAACCTA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgccgctaacctaAGATCGAGACCCGACGC chr11:73027757-Reference-G;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative T tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg AGGACATTATGG CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAaggacattatggAGATCGAGACCCGACGC chr11:73027757-Alternative-T;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative T tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ATCGCACAGTTA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAatcgcacagttaAGATCGAGACCCGACGC chr11:73027757-Alternative-T;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative T tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg AGGTACACGATA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAaggtacacgataAGATCGAGACCCGACGC chr11:73027757-Alternative-T;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Reference G tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GGTACGGTTGCT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAggtacggttgctAGATCGAGACCCGACGC chr11:73027757-Reference-G;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Variant A tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ACACCTAGAATC CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAacacctagaatcAGATCGAGACCCGACGC chr11:73027757-Variant-A;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Reference G tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GCCAACCAAGCA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatGtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgccaaccaagcaAGATCGAGACCCGACGC chr11:73027757-Reference-G;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative T tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ACTACAACTCCT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatTtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAactacaactcctAGATCGAGACCCGACGC chr11:73027757-Alternative-T;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Variant A tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GCAACGTCTGGT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgcaacgtctggtAGATCGAGACCCGACGC chr11:73027757-Variant-A;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative C tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GATACATTCTGG CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgatacattctggAGATCGAGACCCGACGC chr11:73027757-Alternative-C;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Variant A tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg GATCAGTTCTGA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAgatcagttctgaAGATCGAGACCCGACGC chr11:73027757-Variant-A;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Variant A tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg CTTGTTACGCTT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatAtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAActtgttacgcttAGATCGAGACCCGACGC chr11:73027757-Variant-A;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative C tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ACTGGTAGTCAT CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAactggtagtcatAGATCGAGACCCGACGC chr11:73027757-Alternative-C;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative C tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg ATCTATCAAGCG CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAatctatcaagcgAGATCGAGACCCGACGC chr11:73027757-Alternative-C;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative C tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg AACTCGGAACTA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAaactcggaactaAGATCGAGACCCGACGC chr11:73027757-Alternative-C;Patient-92 chr11:73027757-GA Inherited Patient-92 intronic ARHGEF17 0.00035 4.95e-05 0.02 2.99 -0.11 ARHGEF17 8093 Alternative C tggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcagg CAGCGGTTGTCA CGACGCGGTCTCTCTCTtggagcagagaagtagaagatcagaggtgggttagggtgaggaagatcatCtaggccaataggaggacttcagcacatactcaaagtgagatggggcaggAGAGGGAGACGGACGTCTCAATAAcagcggttgtcaAGATCGAGACCCGACGC chr11:73027757-Alternative-C;Patient-92 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative G tcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GGTATCGTCCGA CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAggtatcgtccgaAGATCGAGACCCGACGC chr11:73966748-Alternative-G;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Variant T tcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact CTTAGGATTCCT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAActtaggattcctAGATCGAGACCCGACGC chr11:73966748-Variant-T;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Variant T tcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact CTAGTCACGTGG CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAActagtcacgtggAGATCGAGACCCGACGC chr11:73966748-Variant-T;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative G tcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact ATAGTAGCGAAG CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAatagtagcgaagAGATCGAGACCCGACGC chr11:73966748-Alternative-G;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative A tcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GGACCATGCTGT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAggaccatgctgtAGATCGAGACCCGACGC chr11:73966748-Alternative-A;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative A tcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact ATCTCTCGCAAT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAatctctcgcaatAGATCGAGACCCGACGC chr11:73966748-Alternative-A;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative G tcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GGTCAGTTCCGA CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAggtcagttccgaAGATCGAGACCCGACGC chr11:73966748-Alternative-G;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Variant T tcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact AAGAAGATGTGG CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAaagaagatgtggAGATCGAGACCCGACGC chr11:73966748-Variant-T;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Variant T tcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GAGCTGTAACGG CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgagctgtaacggAGATCGAGACCCGACGC chr11:73966748-Variant-T;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative G tcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GCATACTGCCGT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgcatactgccgtAGATCGAGACCCGACGC chr11:73966748-Alternative-G;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative A tcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GATACCACCATA CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgataccaccataAGATCGAGACCCGACGC chr11:73966748-Alternative-A;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative A tcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GGATCTGCATAT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAggatctgcatatAGATCGAGACCCGACGC chr11:73966748-Alternative-A;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Reference C tcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact CTAATAGCAACC CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAActaatagcaaccAGATCGAGACCCGACGC chr11:73966748-Reference-C;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Reference C tcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GATCAGCGATAA CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgatcagcgataaAGATCGAGACCCGACGC chr11:73966748-Reference-C;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative A tcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact ACCGGAGCGTAT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcAgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAaccggagcgtatAGATCGAGACCCGACGC chr11:73966748-Alternative-A;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Reference C tcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact AAGACGACCGAC CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAaagacgaccgacAGATCGAGACCCGACGC chr11:73966748-Reference-C;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Variant T tcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact AATCTAGCGCAT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcTgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAaatctagcgcatAGATCGAGACCCGACGC chr11:73966748-Variant-T;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Reference C tcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GTTCGTGCTACC CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgttcgtgctaccAGATCGAGACCCGACGC chr11:73966748-Reference-C;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Reference C tcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact CGATACGTTGGT CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcCgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAcgatacgttggtAGATCGAGACCCGACGC chr11:73966748-Reference-C;Patient-108 chr11:73966748-CT DeNovo Patient-108 intergenic NA 3.84e-05 -0.23 0.58 -0.92 P4HA3 55950 Alternative G tcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaact GCGAGTCTGACA CGACGCGGTCTCTCTCTtcctgttatgacactgttacattgttatagttaggaactttattcagggcGgtctgtgggccaatagcatcagtatctcttggaagctcgttagagaactAGAGGGAGACGGACGTCTCAATAAgcgagtctgacaAGATCGAGACCCGACGC chr11:73966748-Alternative-G;Patient-108 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Reference C atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactca AGTTGTGTGCCG CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAagttgtgtgccgAGATCGAGACCCGACGC chr11:74377743-Reference-C;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative G atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactca CATCGCGTTGCA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAcatcgcgttgcaAGATCGAGACCCGACGC chr11:74377743-Alternative-G;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative G atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactca CATGTTAGTGCA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAcatgttagtgcaAGATCGAGACCCGACGC chr11:74377743-Alternative-G;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative T atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactca CGTTCCGGATCA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAcgttccggatcaAGATCGAGACCCGACGC chr11:74377743-Alternative-T;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Reference C atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactca AGACGTATGCGC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAagacgtatgcgcAGATCGAGACCCGACGC chr11:74377743-Reference-C;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Variant A atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactca ACACGAGCAACC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAacacgagcaaccAGATCGAGACCCGACGC chr11:74377743-Variant-A;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative T atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactca AGGTACGTCCAT CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAaggtacgtccatAGATCGAGACCCGACGC chr11:74377743-Alternative-T;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Variant A atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactca CGCGTAGACAAC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAcgcgtagacaacAGATCGAGACCCGACGC chr11:74377743-Variant-A;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Variant A atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactca ACTCTGACAGAT CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAactctgacagatAGATCGAGACCCGACGC chr11:74377743-Variant-A;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Variant A atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactca GCGTTCGATACG CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAgcgttcgatacgAGATCGAGACCCGACGC chr11:74377743-Variant-A;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative T atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactca GATGTCGTTAAG CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAgatgtcgttaagAGATCGAGACCCGACGC chr11:74377743-Alternative-T;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Reference C atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactca AGCAGCGTTGTC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAagcagcgttgtcAGATCGAGACCCGACGC chr11:74377743-Reference-C;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative G atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactca CTATCAATTCGC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAActatcaattcgcAGATCGAGACCCGACGC chr11:74377743-Alternative-G;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Reference C atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactca CATCGCAGATGG CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAcatcgcagatggAGATCGAGACCCGACGC chr11:74377743-Reference-C;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative G atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactca AACGCTTCTCAA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAaacgcttctcaaAGATCGAGACCCGACGC chr11:74377743-Alternative-G;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Variant A atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactca AAGATCGCCGTC CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccAagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAaagatcgccgtcAGATCGAGACCCGACGC chr11:74377743-Variant-A;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative G atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactca GGCTGTGAGCTT CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccGagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAggctgtgagcttAGATCGAGACCCGACGC chr11:74377743-Alternative-G;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative T atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactca GTCATTACCGAA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAgtcattaccgaaAGATCGAGACCCGACGC chr11:74377743-Alternative-T;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Alternative T atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactca ACGCTGTGCTGA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccTagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAacgctgtgctgaAGATCGAGACCCGACGC chr11:74377743-Alternative-T;Patient-87 chr11:74377743-CA Inherited Patient-87 intergenic 0.000765 0.00044 -0.28 0.42 -1.63 CHRDL2 64483 Reference C atactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactca GGCCATCGGTAA CGACGCGGTCTCTCTCTatactccctaaattgatctacagatttagtgcaatctcttatcaaaatccCagctggatttttttttccccagaaattgacaagctgaccctaaaactcaAGAGGGAGACGGACGTCTCAATAAggccatcggtaaAGATCGAGACCCGACGC chr11:74377743-Reference-C;Patient-87 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Variant G acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GCGAATCGTCAC CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAgcgaatcgtcacAGATCGAGACCCGACGC chr11:74457597-Variant-G;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative T acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CGTACCTATCAA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcgtacctatcaaAGATCGAGACCCGACGC chr11:74457597-Alternative-T;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative T acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GTATCTGCCGGT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAgtatctgccggtAGATCGAGACCCGACGC chr11:74457597-Alternative-T;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative T acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca ATAGTGGCTACA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAatagtggctacaAGATCGAGACCCGACGC chr11:74457597-Alternative-T;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative T acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CGTCCAGACTTC CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcgtccagacttcAGATCGAGACCCGACGC chr11:74457597-Alternative-T;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative A acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GGTTGCGGACTA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAggttgcggactaAGATCGAGACCCGACGC chr11:74457597-Alternative-A;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative A acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GGTTCACAACTA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAggttcacaactaAGATCGAGACCCGACGC chr11:74457597-Alternative-A;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative T acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CGGCAATACTAT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcTcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcggcaatactatAGATCGAGACCCGACGC chr11:74457597-Alternative-T;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative A acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GAATGTGGCGTC CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAgaatgtggcgtcAGATCGAGACCCGACGC chr11:74457597-Alternative-A;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative A acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GGTGTCGGAGAT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAggtgtcggagatAGATCGAGACCCGACGC chr11:74457597-Alternative-A;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Variant G acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CACGAACGCGAT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcacgaacgcgatAGATCGAGACCCGACGC chr11:74457597-Variant-G;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Alternative A acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CAATAAGGCGAG CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcAcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcaataaggcgagAGATCGAGACCCGACGC chr11:74457597-Alternative-A;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Reference C acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GTGGCCGTCATA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAgtggccgtcataAGATCGAGACCCGACGC chr11:74457597-Reference-C;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Reference C acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca AGATTGTGCGAA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAagattgtgcgaaAGATCGAGACCCGACGC chr11:74457597-Reference-C;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Reference C acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CATAGCCAAGCG CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcatagccaagcgAGATCGAGACCCGACGC chr11:74457597-Reference-C;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Reference C acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GGCTGTTAGTAT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAggctgttagtatAGATCGAGACCCGACGC chr11:74457597-Reference-C;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Reference C acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CAGACTACTACG CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcCcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAcagactactacgAGATCGAGACCCGACGC chr11:74457597-Reference-C;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Variant G acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca CTGAGTCATCAA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAActgagtcatcaaAGATCGAGACCCGACGC chr11:74457597-Variant-G;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Variant G acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca GGTGTCGCATGT CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAggtgtcgcatgtAGATCGAGACCCGACGC chr11:74457597-Variant-G;Patient-81 chr11:74457597-CG DeNovo Patient-81 intergenic 0.000574 0.00409 0.46 8.97 -1.14 CHRDL2 15369 Variant G acagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggcca AGAGCTACCAGA CGACGCGGTCTCTCTCTacagcaccaagccttcaatactcttgttttaaaaatgaggagattgaggcGcagaaggaagttagctgtttgaaatcacacagtgagttagaaggggccaAGAGGGAGACGGACGTCTCAATAAagagctaccagaAGATCGAGACCCGACGC chr11:74457597-Variant-G;Patient-81 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative G tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcct GTACGGAACTAT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAgtacggaactatAGATCGAGACCCGACGC chr11:75586861-Alternative-G;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Reference C tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CGTAGCATACTA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAcgtagcatactaAGATCGAGACCCGACGC chr11:75586861-Reference-C;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative G tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ATAGTCAGCTGA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAatagtcagctgaAGATCGAGACCCGACGC chr11:75586861-Alternative-G;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Reference C tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ACTGGCGGTATT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAactggcggtattAGATCGAGACCCGACGC chr11:75586861-Reference-C;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Reference C tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcct AGTGAACGGACA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAagtgaacggacaAGATCGAGACCCGACGC chr11:75586861-Reference-C;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative G tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CAGTTGACGCCA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAcagttgacgccaAGATCGAGACCCGACGC chr11:75586861-Alternative-G;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Variant T tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CGTACTACGTGG CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAcgtactacgtggAGATCGAGACCCGACGC chr11:75586861-Variant-T;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative A tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcct GTTACTACCAAC CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAgttactaccaacAGATCGAGACCCGACGC chr11:75586861-Alternative-A;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative A tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcct AGGTTGAGTAGT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAaggttgagtagtAGATCGAGACCCGACGC chr11:75586861-Alternative-A;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Variant T tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CAACTGGCGCTA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAcaactggcgctaAGATCGAGACCCGACGC chr11:75586861-Variant-T;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative A tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CACGTGTTGTAA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAcacgtgttgtaaAGATCGAGACCCGACGC chr11:75586861-Alternative-A;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative A tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcct GAGCAATCGAAG CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAgagcaatcgaagAGATCGAGACCCGACGC chr11:75586861-Alternative-A;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Reference C tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcct AGACGGCGTAGT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAagacggcgtagtAGATCGAGACCCGACGC chr11:75586861-Reference-C;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative A tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ATCACGATTGCA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaAattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAatcacgattgcaAGATCGAGACCCGACGC chr11:75586861-Alternative-A;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative G tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcct GGCGTATCCGAA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAggcgtatccgaaAGATCGAGACCCGACGC chr11:75586861-Alternative-G;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Reference C tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ACGACAATGCTA CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaCattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAacgacaatgctaAGATCGAGACCCGACGC chr11:75586861-Reference-C;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Variant T tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcct CTGCTGCGCTAT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAActgctgcgctatAGATCGAGACCCGACGC chr11:75586861-Variant-T;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Variant T tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ATCGTAGGCACG CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAatcgtaggcacgAGATCGAGACCCGACGC chr11:75586861-Variant-T;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Alternative G tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcct AAGGTTGTGGAT CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaGattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAaaggttgtggatAGATCGAGACCCGACGC chr11:75586861-Alternative-G;Patient-89 chr11:75586861-CT Inherited Patient-89 intronic UVRAG NA 4.95e-05 -0.1 1.39 0.7 UVRAG 60648 Variant T tatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcct ATCAATGCGTAC CGACGCGGTCTCTCTCTtatgctgtttaggggtatagcccttttgtggtcctcagtgtggagagggaTattttttagtcatggatgggacctgggcctggctcttgaattatgtcctAGAGGGAGACGGACGTCTCAATAAatcaatgcgtacAGATCGAGACCCGACGC chr11:75586861-Variant-T;Patient-89 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Reference A gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GCATACGAAGCA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgcatacgaagcaAGATCGAGACCCGACGC chr11:76128392-Reference-A;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Reference A gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GACAACACGTGG CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgacaacacgtggAGATCGAGACCCGACGC chr11:76128392-Reference-A;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Variant C gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GTGTTCTTCTGA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgtgttcttctgaAGATCGAGACCCGACGC chr11:76128392-Variant-C;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Variant C gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ATAGCAATCGCA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAatagcaatcgcaAGATCGAGACCCGACGC chr11:76128392-Variant-C;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative T gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt AGGTTAATCGGT CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAaggttaatcggtAGATCGAGACCCGACGC chr11:76128392-Alternative-T;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Reference A gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ATCGTACCGTGC CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAatcgtaccgtgcAGATCGAGACCCGACGC chr11:76128392-Reference-A;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Reference A gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt CTAATGTTCAGG CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAActaatgttcaggAGATCGAGACCCGACGC chr11:76128392-Reference-A;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Reference A gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt CTGCTATTATGC CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaAaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAActgctattatgcAGATCGAGACCCGACGC chr11:76128392-Reference-A;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Variant C gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ACGCAGCAACGA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAacgcagcaacgaAGATCGAGACCCGACGC chr11:76128392-Variant-C;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative T gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GTGGCGTAAGTC CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgtggcgtaagtcAGATCGAGACCCGACGC chr11:76128392-Alternative-T;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Variant C gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GATACGGAGTCG CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgatacggagtcgAGATCGAGACCCGACGC chr11:76128392-Variant-C;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Variant C gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ACGACGATCGAA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaCaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAacgacgatcgaaAGATCGAGACCCGACGC chr11:76128392-Variant-C;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative T gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GCCTGGAAGTAC CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgcctggaagtacAGATCGAGACCCGACGC chr11:76128392-Alternative-T;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative T gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt AACGTCCAGCGT CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAaacgtccagcgtAGATCGAGACCCGACGC chr11:76128392-Alternative-T;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative G gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt AGTCTATACGGT CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAagtctatacggtAGATCGAGACCCGACGC chr11:76128392-Alternative-G;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative T gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt AGGCACGATCCA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaTaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAaggcacgatccaAGATCGAGACCCGACGC chr11:76128392-Alternative-T;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative G gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt GTCGACTATCAA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAgtcgactatcaaAGATCGAGACCCGACGC chr11:76128392-Alternative-G;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative G gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ATCTATGCTGAG CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAatctatgctgagAGATCGAGACCCGACGC chr11:76128392-Alternative-G;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative G gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt ACGTTAGAGCGA CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAacgttagagcgaAGATCGAGACCCGACGC chr11:76128392-Alternative-G;Patient-19 chr11:76128392-AC DeNovo Patient-19 intergenic NA 0.000513 0.26 6.7 2.92 EMSY 27676 Alternative G gttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgt CAACTCACACCG CGACGCGGTCTCTCTCTgttttctatctaacttattggagaagaatgggaatgtgatcttttttaaaGaatccatctctgcctatcaaagtgcgtgtgcatgtatgtgtgtgcatgtAGAGGGAGACGGACGTCTCAATAAcaactcacaccgAGATCGAGACCCGACGC chr11:76128392-Alternative-G;Patient-19 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative G aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CTGGTAATCGCT CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAActggtaatcgctAGATCGAGACCCGACGC chr11:76465945-Alternative-G;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Reference C aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CAACGGATTAAG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAcaacggattaagAGATCGAGACCCGACGC chr11:76465945-Reference-C;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Reference C aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CGGTCACTTGCA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAcggtcacttgcaAGATCGAGACCCGACGC chr11:76465945-Reference-C;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative G aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc ATAATCCGGCTA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAataatccggctaAGATCGAGACCCGACGC chr11:76465945-Alternative-G;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Variant T aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc AAGTAAGCCAAG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAaagtaagccaagAGATCGAGACCCGACGC chr11:76465945-Variant-T;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative A aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc GCAGCTTGTCGA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAgcagcttgtcgaAGATCGAGACCCGACGC chr11:76465945-Alternative-A;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Variant T aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CGGTATCGCGAA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAcggtatcgcgaaAGATCGAGACCCGACGC chr11:76465945-Variant-T;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative A aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc AGCGTCGCTTCT CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAagcgtcgcttctAGATCGAGACCCGACGC chr11:76465945-Alternative-A;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Variant T aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc GTACTTATCGCT CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAgtacttatcgctAGATCGAGACCCGACGC chr11:76465945-Variant-T;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Reference C aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CATTATGGTTCG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAcattatggttcgAGATCGAGACCCGACGC chr11:76465945-Reference-C;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Reference C aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc ATCTCCGTGTTA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAatctccgtgttaAGATCGAGACCCGACGC chr11:76465945-Reference-C;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Reference C aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc AATGCGTGGCGT CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaCtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAaatgcgtggcgtAGATCGAGACCCGACGC chr11:76465945-Reference-C;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Variant T aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc GACCATATATCG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAgaccatatatcgAGATCGAGACCCGACGC chr11:76465945-Variant-T;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative G aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc GGCGTACGACTA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAggcgtacgactaAGATCGAGACCCGACGC chr11:76465945-Alternative-G;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative G aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc ATCTGATTGTGG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAatctgattgtggAGATCGAGACCCGACGC chr11:76465945-Alternative-G;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Variant T aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc ATCCGACTTCAA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaTtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAatccgacttcaaAGATCGAGACCCGACGC chr11:76465945-Variant-T;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative A aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc ACGACTATGACC CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAacgactatgaccAGATCGAGACCCGACGC chr11:76465945-Alternative-A;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative A aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc AGTGTAACGGCG CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAagtgtaacggcgAGATCGAGACCCGACGC chr11:76465945-Alternative-A;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative G aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc GTACCGTGATCA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaGtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAgtaccgtgatcaAGATCGAGACCCGACGC chr11:76465945-Alternative-G;Patient-88 chr11:76465945-CT DeNovo Patient-88 intergenic NA 0.000513 0.24 6.47 0 TSKU 27411 Alternative A aatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagacc CGTGTTCACTTA CGACGCGGTCTCTCTCTaatacactaacactggccaggcgtggtggcttacgcctgtaatcccagcaAtttgggaggccaaggtgggtggatcacctgaggccaggatttccagaccAGAGGGAGACGGACGTCTCAATAAcgtgttcacttaAGATCGAGACCCGACGC chr11:76465945-Alternative-A;Patient-88 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Reference T cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GAGTTGAGATGT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgagttgagatgtAGATCGAGACCCGACGC chr11:77088351-Reference-T;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Reference T cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CATAACAACGCT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAcataacaacgctAGATCGAGACCCGACGC chr11:77088351-Reference-T;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Reference T cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacac AGCTAACGTACT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAagctaacgtactAGATCGAGACCCGACGC chr11:77088351-Reference-T;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Reference T cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacac AGATCCAAGACA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAagatccaagacaAGATCGAGACCCGACGC chr11:77088351-Reference-T;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative A cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GATTGCCTATCA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgattgcctatcaAGATCGAGACCCGACGC chr11:77088351-Alternative-A;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Variant C cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GTGATATTCACG CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgtgatattcacgAGATCGAGACCCGACGC chr11:77088351-Variant-C;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Reference T cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacac AGATGTAGTGCA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaTaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAagatgtagtgcaAGATCGAGACCCGACGC chr11:77088351-Reference-T;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative G cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CGTTCGCACGTT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAcgttcgcacgttAGATCGAGACCCGACGC chr11:77088351-Alternative-G;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative A cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GGTGTTAGGCGA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAggtgttaggcgaAGATCGAGACCCGACGC chr11:77088351-Alternative-A;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative G cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CAGCAAGTGTAA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAcagcaagtgtaaAGATCGAGACCCGACGC chr11:77088351-Alternative-G;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative G cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacac ACGGCTTACACG CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAacggcttacacgAGATCGAGACCCGACGC chr11:77088351-Alternative-G;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Variant C cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CGCTATTGGTGG CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAcgctattggtggAGATCGAGACCCGACGC chr11:77088351-Variant-C;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative G cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GAGTCAACTAAG CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgagtcaactaagAGATCGAGACCCGACGC chr11:77088351-Alternative-G;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative G cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GGAGGACGCTAT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaGaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAggaggacgctatAGATCGAGACCCGACGC chr11:77088351-Alternative-G;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative A cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CTAGCTAGCAGA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAActagctagcagaAGATCGAGACCCGACGC chr11:77088351-Alternative-A;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Variant C cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GGAGGACTTAAG CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAggaggacttaagAGATCGAGACCCGACGC chr11:77088351-Variant-C;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative A cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacac CTTACGCATGTT CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAActtacgcatgttAGATCGAGACCCGACGC chr11:77088351-Alternative-A;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Variant C cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacac AGTCATACGGAA CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAagtcatacggaaAGATCGAGACCCGACGC chr11:77088351-Variant-C;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Variant C cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GTCTATGCCGAC CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaCaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgtctatgccgacAGATCGAGACCCGACGC chr11:77088351-Variant-C;Patient-62 chr11:77088351-TC DeNovo Patient-62 intronic PAK1 0.000414 4.95e-05 -0.03 2.17 -3.53 PAK1 96756 Alternative A cacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacac GAATGACTGTGC CGACGCGGTCTCTCTCTcacatgaggtaattcacatgtgagcatatacaaatgaggtagtattatcaAaactaatagtataagaggatggtaaatagggaaaggagagatatgacacAGAGGGAGACGGACGTCTCAATAAgaatgactgtgcAGATCGAGACCCGACGC chr11:77088351-Alternative-A;Patient-62 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative G cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GCGACACATATT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAgcgacacatattAGATCGAGACCCGACGC chr11:77183196-Alternative-G;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Variant A cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac ATACGTCACCGA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAatacgtcaccgaAGATCGAGACCCGACGC chr11:77183196-Variant-A;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative C cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac ATCGGCGCAAGA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAatcggcgcaagaAGATCGAGACCCGACGC chr11:77183196-Alternative-C;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Reference T cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CGGATCACACCT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAcggatcacacctAGATCGAGACCCGACGC chr11:77183196-Reference-T;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Reference T cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CAATAATGCGTC CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAcaataatgcgtcAGATCGAGACCCGACGC chr11:77183196-Reference-T;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Variant A cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac AGTCGATACTGA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAagtcgatactgaAGATCGAGACCCGACGC chr11:77183196-Variant-A;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative G cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GTTACAACACAG CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAgttacaacacagAGATCGAGACCCGACGC chr11:77183196-Alternative-G;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative G cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac AGCAACATGAGT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAagcaacatgagtAGATCGAGACCCGACGC chr11:77183196-Alternative-G;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Variant A cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GATTGGAGCGAC CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAgattggagcgacAGATCGAGACCCGACGC chr11:77183196-Variant-A;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Variant A cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac AATGGACGAACG CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAaatggacgaacgAGATCGAGACCCGACGC chr11:77183196-Variant-A;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative G cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GTATCTCATGAG CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAgtatctcatgagAGATCGAGACCCGACGC chr11:77183196-Alternative-G;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Reference T cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GCGATAGTGGCA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAgcgatagtggcaAGATCGAGACCCGACGC chr11:77183196-Reference-T;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative G cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac AAGCATTCCTGA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagGaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAaagcattcctgaAGATCGAGACCCGACGC chr11:77183196-Alternative-G;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Reference T cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CATCTGGTATGA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAcatctggtatgaAGATCGAGACCCGACGC chr11:77183196-Reference-T;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Reference T cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CGCATATTCCGT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagTaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAcgcatattccgtAGATCGAGACCCGACGC chr11:77183196-Reference-T;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative C cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CAGGCGTAATAT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAcaggcgtaatatAGATCGAGACCCGACGC chr11:77183196-Alternative-C;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative C cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac GGCTGCTCGTAA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAggctgctcgtaaAGATCGAGACCCGACGC chr11:77183196-Alternative-C;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Variant A cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CTAACGACATGG CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagAaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAActaacgacatggAGATCGAGACCCGACGC chr11:77183196-Variant-A;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative C cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac CTTGCCTAACAT CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAActtgcctaacatAGATCGAGACCCGACGC chr11:77183196-Alternative-C;Patient-58 chr11:77183196-TA Inherited Patient-58 intronic PAK1 0.000255 0.000638978 0.32 7.42 2.66 PAK1 1911 Alternative C cccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagac AGCATTCTGCAA CGACGCGGTCTCTCTCTcccatagccttagcaagaggcctgaaacatagtagctctccgaactccagCaatgttggataaacgaattgactgaataagcaaatttaccaaggtagacAGAGGGAGACGGACGTCTCAATAAagcattctgcaaAGATCGAGACCCGACGC chr11:77183196-Alternative-C;Patient-58 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative T ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc AGCGCAACAAGG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAagcgcaacaaggAGATCGAGACCCGACGC chr11:77184278-Alternative-T;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative T ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CTCATCGCTACG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAActcatcgctacgAGATCGAGACCCGACGC chr11:77184278-Alternative-T;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Reference G ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GGTAGAGTCTGG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAggtagagtctggAGATCGAGACCCGACGC chr11:77184278-Reference-G;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative T ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GGTACGAGGTGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAggtacgaggtgtAGATCGAGACCCGACGC chr11:77184278-Alternative-T;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Reference G ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc ACGACGATCGCT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAacgacgatcgctAGATCGAGACCCGACGC chr11:77184278-Reference-G;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Reference G ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CATAACATGCGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcataacatgcgtAGATCGAGACCCGACGC chr11:77184278-Reference-G;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Reference G ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CGAGCATAAGGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcgagcataaggtAGATCGAGACCCGACGC chr11:77184278-Reference-G;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative T ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CGTCTTGACTAT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcgtcttgactatAGATCGAGACCCGACGC chr11:77184278-Alternative-T;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative T ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc ACGTTGATGCGG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgTtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAacgttgatgcggAGATCGAGACCCGACGC chr11:77184278-Alternative-T;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Variant C ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GTCAAGTGCGAT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAgtcaagtgcgatAGATCGAGACCCGACGC chr11:77184278-Variant-C;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative A ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GACCGGTCTAGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAgaccggtctagtAGATCGAGACCCGACGC chr11:77184278-Alternative-A;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative A ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CGCGCATGACTT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcgcgcatgacttAGATCGAGACCCGACGC chr11:77184278-Alternative-A;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Variant C ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GCGATCGAGTCA CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAgcgatcgagtcaAGATCGAGACCCGACGC chr11:77184278-Variant-C;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Variant C ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CTACCAACCGGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAActaccaaccggtAGATCGAGACCCGACGC chr11:77184278-Variant-C;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Variant C ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GGCAGTATCGAG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAggcagtatcgagAGATCGAGACCCGACGC chr11:77184278-Variant-C;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative A ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc GGTCGAGGTAGT CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAggtcgaggtagtAGATCGAGACCCGACGC chr11:77184278-Alternative-A;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative A ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc ATAATGAGTCGG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAataatgagtcggAGATCGAGACCCGACGC chr11:77184278-Alternative-A;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Alternative A ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc AGGAAGACAAGG CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgAtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAaggaagacaaggAGATCGAGACCCGACGC chr11:77184278-Alternative-A;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Variant C ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CATTGTCCATAC CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgCtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcattgtccatacAGATCGAGACCCGACGC chr11:77184278-Variant-C;Patient-31 chr11:77184278-GC DeNovo Patient-31 intronic PAK1 NA 0.00016 0.26 6.63 -0.42 PAK1 829 Reference G ggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgcccc CACGTGAAGCGA CGACGCGGTCTCTCTCTggtgagcgccgcaggactgcgaagttcgggacggactcggtcccggaccgGtactcgtgtggcctcccggctccagcctggcctggccccgccccgccccAGAGGGAGACGGACGTCTCAATAAcacgtgaagcgaAGATCGAGACCCGACGC chr11:77184278-Reference-G;Patient-31 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Reference C tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CTTGGTTGTTCA CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAActtggttgttcaAGATCGAGACCCGACGC chr11:78345426-Reference-C;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Reference C tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CTACGGAGATGA CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAActacggagatgaAGATCGAGACCCGACGC chr11:78345426-Reference-C;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Variant A tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa GAGATCAACGAT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAgagatcaacgatAGATCGAGACCCGACGC chr11:78345426-Variant-A;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Variant A tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa ACAGGACAGTAT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAacaggacagtatAGATCGAGACCCGACGC chr11:78345426-Variant-A;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Variant A tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CTCGTTCTTCAT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAActcgttcttcatAGATCGAGACCCGACGC chr11:78345426-Variant-A;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Reference C tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa AGTTCCATCGTT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAagttccatcgttAGATCGAGACCCGACGC chr11:78345426-Reference-C;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Reference C tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa ATACTTCCGGCG CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAatacttccggcgAGATCGAGACCCGACGC chr11:78345426-Reference-C;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Reference C tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CGGTGGAACCTA CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctCaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAcggtggaacctaAGATCGAGACCCGACGC chr11:78345426-Reference-C;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative G tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa GGAGATGACATC CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAggagatgacatcAGATCGAGACCCGACGC chr11:78345426-Alternative-G;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative G tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CTAGTACGGTCG CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAActagtacggtcgAGATCGAGACCCGACGC chr11:78345426-Alternative-G;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative G tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa ACCGTACTCATT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAaccgtactcattAGATCGAGACCCGACGC chr11:78345426-Alternative-G;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative G tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa AACTTGCTCGCG CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAaacttgctcgcgAGATCGAGACCCGACGC chr11:78345426-Alternative-G;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Variant A tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CACGTTGGATGC CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAcacgttggatgcAGATCGAGACCCGACGC chr11:78345426-Variant-A;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative G tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CTCAATAATCGC CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctGaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAActcaataatcgcAGATCGAGACCCGACGC chr11:78345426-Alternative-G;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative T tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CATTAGTGACGG CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAcattagtgacggAGATCGAGACCCGACGC chr11:78345426-Alternative-T;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Variant A tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CGAGTCGTGATA CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctAaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAcgagtcgtgataAGATCGAGACCCGACGC chr11:78345426-Variant-A;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative T tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa GCACGCTTAAGT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAgcacgcttaagtAGATCGAGACCCGACGC chr11:78345426-Alternative-T;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative T tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa CATAGCGAAGCA CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAcatagcgaagcaAGATCGAGACCCGACGC chr11:78345426-Alternative-T;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative T tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa ACTGCGAGATGC CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAactgcgagatgcAGATCGAGACCCGACGC chr11:78345426-Alternative-T;Patient-55 chr11:78345426-CA Inherited Patient-55 intergenic NA 0.000513 0.37 8.04 0.11 NARS2 59516 Alternative T tatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaa AGCCGGACAGTT CGACGCGGTCTCTCTCTtatgaacatacagacacaagaaatatgaaaaaacaagaaacatgacacctTaaaaaaaaaaatcacaaacattctgcaacagattccaaagaaaaagaaaAGAGGGAGACGGACGTCTCAATAAagccggacagttAGATCGAGACCCGACGC chr11:78345426-Alternative-T;Patient-55 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Reference C ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CGTGTAACGTGC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcgtgtaacgtgcAGATCGAGACCCGACGC chr11:7985764-Reference-C;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative G ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc GGTCGCGATATC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAggtcgcgatatcAGATCGAGACCCGACGC chr11:7985764-Alternative-G;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Reference C ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CATAGACCATAC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcatagaccatacAGATCGAGACCCGACGC chr11:7985764-Reference-C;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative G ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CGCGAAGTGTAC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcgcgaagtgtacAGATCGAGACCCGACGC chr11:7985764-Alternative-G;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Variant T ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AGTAGTAGTCGA CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAagtagtagtcgaAGATCGAGACCCGACGC chr11:7985764-Variant-T;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative A ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CAAGGTATGACT CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcaaggtatgactAGATCGAGACCCGACGC chr11:7985764-Alternative-A;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative A ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AGTCAGTGTCTA CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAagtcagtgtctaAGATCGAGACCCGACGC chr11:7985764-Alternative-A;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Reference C ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AACTCCTTGTCA CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAaactccttgtcaAGATCGAGACCCGACGC chr11:7985764-Reference-C;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Variant T ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CATGACTAGGTT CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcatgactaggttAGATCGAGACCCGACGC chr11:7985764-Variant-T;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Variant T ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AGTAGCCGATGC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAagtagccgatgcAGATCGAGACCCGACGC chr11:7985764-Variant-T;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative A ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc ATATACGTCCGA CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAatatacgtccgaAGATCGAGACCCGACGC chr11:7985764-Alternative-A;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative G ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CTATTCGCGTTC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAActattcgcgttcAGATCGAGACCCGACGC chr11:7985764-Alternative-G;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Variant T ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AGCTCAACAACG CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAagctcaacaacgAGATCGAGACCCGACGC chr11:7985764-Variant-T;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative A ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc ACGTTGATCAAG CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAacgttgatcaagAGATCGAGACCCGACGC chr11:7985764-Alternative-A;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Reference C ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc ACGAGCGACGAT CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAacgagcgacgatAGATCGAGACCCGACGC chr11:7985764-Reference-C;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Variant T ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc ATTGTACTCCGT CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccTggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAattgtactccgtAGATCGAGACCCGACGC chr11:7985764-Variant-T;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative G ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc AGTGTATCGCAT CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAagtgtatcgcatAGATCGAGACCCGACGC chr11:7985764-Alternative-G;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Reference C ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc GGCTGATCGCTA CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccCggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAggctgatcgctaAGATCGAGACCCGACGC chr11:7985764-Reference-C;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative A ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc ATCGTGAAGTAC CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccAggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAatcgtgaagtacAGATCGAGACCCGACGC chr11:7985764-Alternative-A;Patient-54 chr11:7985764-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.14 1.04 -0.32 EIF3F 23102 Alternative G ccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaacc CGTATCTCAAGG CGACGCGGTCTCTCTCTccgccttggcttcccaaagtgctgggattacaggcatgagctactgtgccGggccaagttttaagttttaaaagtgagactgtccctggctgtgtgaaccAGAGGGAGACGGACGTCTCAATAAcgtatctcaaggAGATCGAGACCCGACGC chr11:7985764-Alternative-G;Patient-54 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Variant T catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ATTGCCTCATGT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAattgcctcatgtAGATCGAGACCCGACGC chr11:821809-Variant-T;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Variant T catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc AGTAGCTAACCA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAagtagctaaccaAGATCGAGACCCGACGC chr11:821809-Variant-T;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Variant T catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc AGTCGGAGAGCT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAagtcggagagctAGATCGAGACCCGACGC chr11:821809-Variant-T;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Variant T catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc GTCAGTTGACCA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAgtcagttgaccaAGATCGAGACCCGACGC chr11:821809-Variant-T;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Variant T catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ATCTTACGTCGT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaTggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAatcttacgtcgtAGATCGAGACCCGACGC chr11:821809-Variant-T;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative G catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc AACGATGGCATA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAaacgatggcataAGATCGAGACCCGACGC chr11:821809-Alternative-G;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative A catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ACCGCACTACAC CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAaccgcactacacAGATCGAGACCCGACGC chr11:821809-Alternative-A;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative A catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CGTCTTGGTTCG CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAcgtcttggttcgAGATCGAGACCCGACGC chr11:821809-Alternative-A;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative G catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CTACGCCGCATT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAActacgccgcattAGATCGAGACCCGACGC chr11:821809-Alternative-G;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative A catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc GACGTCGGTTGT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAgacgtcggttgtAGATCGAGACCCGACGC chr11:821809-Alternative-A;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative A catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc GTCGAACTCGGT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAgtcgaactcggtAGATCGAGACCCGACGC chr11:821809-Alternative-A;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative G catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CTAGCTCACGCA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAActagctcacgcaAGATCGAGACCCGACGC chr11:821809-Alternative-G;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative G catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ACTGTCGCTTAT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAactgtcgcttatAGATCGAGACCCGACGC chr11:821809-Alternative-G;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Reference C catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc AATGACGATCCT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAaatgacgatcctAGATCGAGACCCGACGC chr11:821809-Reference-C;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Reference C catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ACCAAGACGCCA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAaccaagacgccaAGATCGAGACCCGACGC chr11:821809-Reference-C;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative A catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CATAGTTACACG CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaAggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAcatagttacacgAGATCGAGACCCGACGC chr11:821809-Alternative-A;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Alternative G catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc ACGAGATTGTGA CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaGggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAacgagattgtgaAGATCGAGACCCGACGC chr11:821809-Alternative-G;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Reference C catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CAAGGACCGAAT CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAcaaggaccgaatAGATCGAGACCCGACGC chr11:821809-Reference-C;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Reference C catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc GCAAGCCAGAAG CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAAgcaagccagaagAGATCGAGACCCGACGC chr11:821809-Reference-C;Patient-68 chr11:821809-CT Inherited Patient-68 synonymous PNPLA2 0.000654 0.00104 1.42 15.44 -3.24 PNPLA2 2907 Reference C catgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatcc CTCTTAGGACGG CGACGCGGTCTCTCTCTcatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagaCggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccAGAGGGAGACGGACGTCTCAATAActcttaggacggAGATCGAGACCCGACGC chr11:821809-Reference-C;Patient-68 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Reference G gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GTTGTGTTACGA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAgttgtgttacgaAGATCGAGACCCGACGC chr11:86049637-Reference-G;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative C gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GGTTCGGCTAGT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAggttcggctagtAGATCGAGACCCGACGC chr11:86049637-Alternative-C;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative C gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GTAATGCAACGA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAgtaatgcaacgaAGATCGAGACCCGACGC chr11:86049637-Alternative-C;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative C gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg ATTGAGTCTGAG CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAattgagtctgagAGATCGAGACCCGACGC chr11:86049637-Alternative-C;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative T gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GACTACGCCTAA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAgactacgcctaaAGATCGAGACCCGACGC chr11:86049637-Alternative-T;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative T gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GTATTCCGGCAG CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAgtattccggcagAGATCGAGACCCGACGC chr11:86049637-Alternative-T;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Variant A gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GTCAGCCGTGAA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAgtcagccgtgaaAGATCGAGACCCGACGC chr11:86049637-Variant-A;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative C gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg ACGCAACGAGCA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAacgcaacgagcaAGATCGAGACCCGACGC chr11:86049637-Alternative-C;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Variant A gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg CGACGCTAGGTT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAcgacgctaggttAGATCGAGACCCGACGC chr11:86049637-Variant-A;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Reference G gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg AGCTAGCTACTA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAagctagctactaAGATCGAGACCCGACGC chr11:86049637-Reference-G;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Reference G gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg ACGGTCGCGAAT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAacggtcgcgaatAGATCGAGACCCGACGC chr11:86049637-Reference-G;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative T gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg AGCGTCACGTGT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAagcgtcacgtgtAGATCGAGACCCGACGC chr11:86049637-Alternative-T;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative C gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg CAGGTAACAACC CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaCtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAcaggtaacaaccAGATCGAGACCCGACGC chr11:86049637-Alternative-C;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative T gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg ATTGCACATGAG CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAattgcacatgagAGATCGAGACCCGACGC chr11:86049637-Alternative-T;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Alternative T gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg CTCGTCCATAAT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaTtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAActcgtccataatAGATCGAGACCCGACGC chr11:86049637-Alternative-T;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Reference G gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg AGTAGAAGCTGT CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAagtagaagctgtAGATCGAGACCCGACGC chr11:86049637-Reference-G;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Reference G gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg CGCGGTAGCATA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaGtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAcgcggtagcataAGATCGAGACCCGACGC chr11:86049637-Reference-G;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Variant A gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg GGTACTAAGGCG CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAggtactaaggcgAGATCGAGACCCGACGC chr11:86049637-Variant-A;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Variant A gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg ACTCCTACGCGA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAactcctacgcgaAGATCGAGACCCGACGC chr11:86049637-Variant-A;Patient-87 chr11:86049637-GA Inherited Patient-87 intronic HIKESHI 0.000637 9.9e-05 0.03 3.03 -1.58 HIKESHI 36383 Variant A gaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcg AACGCTCTGGCA CGACGCGGTCTCTCTCTgaaattgaaataaaaaaagactactaaataagtcttctagcagaggaggaAtgaatggattagggaaaccatatgtgtttgcctggcagtaccagaggcgAGAGGGAGACGGACGTCTCAATAAaacgctctggcaAGATCGAGACCCGACGC chr11:86049637-Variant-A;Patient-87 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative G gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GGTGTCTCATAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAggtgtctcatatAGATCGAGACCCGACGC chr11:86452312-Alternative-G;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Reference T gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GGCGCGATACTA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAggcgcgatactaAGATCGAGACCCGACGC chr11:86452312-Reference-T;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative G gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac CGTCGGAATTAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAcgtcggaattatAGATCGAGACCCGACGC chr11:86452312-Alternative-G;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative G gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac AGCTCTGAAGTT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAagctctgaagttAGATCGAGACCCGACGC chr11:86452312-Alternative-G;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative A gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GCGCACAAGACT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAgcgcacaagactAGATCGAGACCCGACGC chr11:86452312-Alternative-A;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative G gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac AGGCTAGCAACG CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAaggctagcaacgAGATCGAGACCCGACGC chr11:86452312-Alternative-G;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Reference T gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GGAGTATCGGAC CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAggagtatcggacAGATCGAGACCCGACGC chr11:86452312-Reference-T;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Variant C gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac ATCCGGCGTAAG CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAatccggcgtaagAGATCGAGACCCGACGC chr11:86452312-Variant-C;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Reference T gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac CGTACTAATACG CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAcgtactaatacgAGATCGAGACCCGACGC chr11:86452312-Reference-T;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Variant C gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac AGATACAGGCGA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAagatacaggcgaAGATCGAGACCCGACGC chr11:86452312-Variant-C;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative G gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac ACGCGCGTAGAA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacGttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAacgcgcgtagaaAGATCGAGACCCGACGC chr11:86452312-Alternative-G;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Reference T gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac CTAGTTACACCT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAActagttacacctAGATCGAGACCCGACGC chr11:86452312-Reference-T;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative A gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GGACGCTGAGAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAggacgctgagatAGATCGAGACCCGACGC chr11:86452312-Alternative-A;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Variant C gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GCATTGGTCCGA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAgcattggtccgaAGATCGAGACCCGACGC chr11:86452312-Variant-C;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Reference T gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GGACCGATACCA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacTttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAggaccgataccaAGATCGAGACCCGACGC chr11:86452312-Reference-T;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Variant C gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GTTCTGAGTGAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAgttctgagtgatAGATCGAGACCCGACGC chr11:86452312-Variant-C;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative A gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac ACCAATAGGCCG CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAaccaataggccgAGATCGAGACCCGACGC chr11:86452312-Alternative-A;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative A gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac GTCTCTGGCGAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAgtctctggcgatAGATCGAGACCCGACGC chr11:86452312-Alternative-A;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Alternative A gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac AACGTGTTGCTA CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacAttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAaacgtgttgctaAGATCGAGACCCGACGC chr11:86452312-Alternative-A;Patient-80 chr11:86452312-TC DeNovo Patient-80 intergenic 0.000287 0.00231 1.74 17.03 3.51 ME3 68633 Variant C gtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgac AGATAGGCTCAT CGACGCGGTCTCTCTCTgtgagagtctcttcttacccaacctaattcctctgactgcacaagcccacCttgtgccttttgaccgcgcctcctctcagggcaggaaatcaaagctgacAGAGGGAGACGGACGTCTCAATAAagataggctcatAGATCGAGACCCGACGC chr11:86452312-Variant-C;Patient-80 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Reference T tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta ACACGCCGTCAT CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAacacgccgtcatAGATCGAGACCCGACGC chr11:86478482-Reference-T;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative A tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta ACGACGGTAGGT CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAacgacggtaggtAGATCGAGACCCGACGC chr11:86478482-Alternative-A;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative G tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CATTGCGGTGGT CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAcattgcggtggtAGATCGAGACCCGACGC chr11:86478482-Alternative-G;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative A tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CGGAAGTATAAC CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAcggaagtataacAGATCGAGACCCGACGC chr11:86478482-Alternative-A;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative A tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GTCTAGCCATAA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgtctagccataaAGATCGAGACCCGACGC chr11:86478482-Alternative-A;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative G tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GCGTATCGCCTA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgcgtatcgcctaAGATCGAGACCCGACGC chr11:86478482-Alternative-G;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Variant C tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CGAAGAGAGCGA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAcgaagagagcgaAGATCGAGACCCGACGC chr11:86478482-Variant-C;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Variant C tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GCAGCAACATAA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgcagcaacataaAGATCGAGACCCGACGC chr11:86478482-Variant-C;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative G tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta AAGTGAGCTACA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAaagtgagctacaAGATCGAGACCCGACGC chr11:86478482-Alternative-G;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative A tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta ACCTGACAGTAT CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAacctgacagtatAGATCGAGACCCGACGC chr11:86478482-Alternative-A;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Variant C tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta AATCTGGTTGAC CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAaatctggttgacAGATCGAGACCCGACGC chr11:86478482-Variant-C;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative G tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CTGTGTTGTAAG CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAActgtgttgtaagAGATCGAGACCCGACGC chr11:86478482-Alternative-G;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Variant C tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GTACTAACCGCA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgtactaaccgcaAGATCGAGACCCGACGC chr11:86478482-Variant-C;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative G tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GTCAGTAGTCAT CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataGgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgtcagtagtcatAGATCGAGACCCGACGC chr11:86478482-Alternative-G;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Variant C tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CGTACAGTATCA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataCgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAcgtacagtatcaAGATCGAGACCCGACGC chr11:86478482-Variant-C;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Reference T tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta GACTGGTTCGCA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAgactggttcgcaAGATCGAGACCCGACGC chr11:86478482-Reference-T;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Alternative A tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta CTTACGATCCGC CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataAgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAActtacgatccgcAGATCGAGACCCGACGC chr11:86478482-Alternative-A;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Reference T tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta ACTTAGCGGAAC CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAacttagcggaacAGATCGAGACCCGACGC chr11:86478482-Reference-T;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Reference T tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta AATATAGCGTCC CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAaatatagcgtccAGATCGAGACCCGACGC chr11:86478482-Reference-T;Patient-35 chr11:86478482-TC DeNovo Patient-35 intergenic NA 0.000513 0.03 3.04 -0.54 ME3 94803 Reference T tacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaacta AGTCATCGATCA CGACGCGGTCTCTCTCTtacaaaggtctagatgtaaggaacactgaaaatgttgacttcctagtataTgtctggaacatagcaggtattcaataaatggcagcagcctttagaactaAGAGGGAGACGGACGTCTCAATAAagtcatcgatcaAGATCGAGACCCGACGC chr11:86478482-Reference-T;Patient-35 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative C gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GCGTACCTCTTA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAgcgtacctcttaAGATCGAGACCCGACGC chr11:86588145-Alternative-C;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative C gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GATACGGCGAGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAgatacggcgagtAGATCGAGACCCGACGC chr11:86588145-Alternative-C;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative C gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CTCTACGGAGAT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAActctacggagatAGATCGAGACCCGACGC chr11:86588145-Alternative-C;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Variant G gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CTTATCGCGTCG CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAActtatcgcgtcgAGATCGAGACCCGACGC chr11:86588145-Variant-G;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative C gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GGATGACTGTGG CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAggatgactgtggAGATCGAGACCCGACGC chr11:86588145-Alternative-C;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Reference A gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GGTACAGATCCA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAggtacagatccaAGATCGAGACCCGACGC chr11:86588145-Reference-A;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Reference A gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggc ACGTAGTAAGGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAacgtagtaaggtAGATCGAGACCCGACGC chr11:86588145-Reference-A;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative C gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CGATAATTCGCA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcCgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcgataattcgcaAGATCGAGACCCGACGC chr11:86588145-Alternative-C;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative T gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggc AGTTACGCTGCG CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAagttacgctgcgAGATCGAGACCCGACGC chr11:86588145-Alternative-T;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative T gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CGGAACAATAGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcggaacaatagtAGATCGAGACCCGACGC chr11:86588145-Alternative-T;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative T gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CGGTGGTCTTGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcggtggtcttgtAGATCGAGACCCGACGC chr11:86588145-Alternative-T;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative T gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GGTGGACATGGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAggtggacatggtAGATCGAGACCCGACGC chr11:86588145-Alternative-T;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Variant G gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggc ATCGGAGAATCA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAatcggagaatcaAGATCGAGACCCGACGC chr11:86588145-Variant-G;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Reference A gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CAGCGCGTACAT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcagcgcgtacatAGATCGAGACCCGACGC chr11:86588145-Reference-A;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Reference A gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GATAGCTCTATC CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAgatagctctatcAGATCGAGACCCGACGC chr11:86588145-Reference-A;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Reference A gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CAGGACGACAAC CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcAgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcaggacgacaacAGATCGAGACCCGACGC chr11:86588145-Reference-A;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Variant G gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CGCATCGCGTTA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcgcatcgcgttaAGATCGAGACCCGACGC chr11:86588145-Variant-G;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Variant G gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggc GTTGGACCACGT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAgttggaccacgtAGATCGAGACCCGACGC chr11:86588145-Variant-G;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Alternative T gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CATAGTAGCGAT CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcTgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcatagtagcgatAGATCGAGACCCGACGC chr11:86588145-Alternative-T;Patient-55 chr11:86588145-AG Inherited Patient-55 intergenic NA 0.000513 0.03 3.12 0.37 FZD4 78294 Variant G gcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggc CGGTCTGTTGCA CGACGCGGTCTCTCTCTgcactgggcccactgtggcaactgcaatcaaatcaagatgggtaatgtgcGgtataagtgtttagccctcacagtgcctcattcagccctctattatggcAGAGGGAGACGGACGTCTCAATAAcggtctgttgcaAGATCGAGACCCGACGC chr11:86588145-Variant-G;Patient-55 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative T agatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa AGCGTCAAGTAC CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAagcgtcaagtacAGATCGAGACCCGACGC chr11:86604727-Alternative-T;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative T agatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CATGCCACGATA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAcatgccacgataAGATCGAGACCCGACGC chr11:86604727-Alternative-T;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Reference G agatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CGCATAGAGCTA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAcgcatagagctaAGATCGAGACCCGACGC chr11:86604727-Reference-G;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative T agatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GCACGTCGATTA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAgcacgtcgattaAGATCGAGACCCGACGC chr11:86604727-Alternative-T;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative T agatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GGCGAACCTTCT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAggcgaaccttctAGATCGAGACCCGACGC chr11:86604727-Alternative-T;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Variant A agatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CTCGCTCCTGAA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAActcgctcctgaaAGATCGAGACCCGACGC chr11:86604727-Variant-A;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative T agatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GATGTTGCGTTA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttTtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAgatgttgcgttaAGATCGAGACCCGACGC chr11:86604727-Alternative-T;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Reference G agatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa ACCAACGTTATC CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAaccaacgttatcAGATCGAGACCCGACGC chr11:86604727-Reference-G;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Reference G agatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa AGAACGATCACA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAagaacgatcacaAGATCGAGACCCGACGC chr11:86604727-Reference-G;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative C agatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa AATCGACGCGCT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAaatcgacgcgctAGATCGAGACCCGACGC chr11:86604727-Alternative-C;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Variant A agatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GCGTAGCTACCT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAgcgtagctacctAGATCGAGACCCGACGC chr11:86604727-Variant-A;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Variant A agatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CTGCATCCGGAT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAActgcatccggatAGATCGAGACCCGACGC chr11:86604727-Variant-A;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Reference G agatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GCGGCAACTCAT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAgcggcaactcatAGATCGAGACCCGACGC chr11:86604727-Reference-G;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative C agatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa GACGCTGGTTCA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAgacgctggttcaAGATCGAGACCCGACGC chr11:86604727-Alternative-C;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative C agatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CATCGTCGCGAT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAcatcgtcgcgatAGATCGAGACCCGACGC chr11:86604727-Alternative-C;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative C agatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa ACTCTGCGATCG CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAactctgcgatcgAGATCGAGACCCGACGC chr11:86604727-Alternative-C;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Alternative C agatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CAGACTAATTGC CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttCtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAcagactaattgcAGATCGAGACCCGACGC chr11:86604727-Alternative-C;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Reference G agatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CTGTGTTCGCCT CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttGtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAActgtgttcgcctAGATCGAGACCCGACGC chr11:86604727-Reference-G;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Variant A agatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa ACCTTCCATACG CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAaccttccatacgAGATCGAGACCCGACGC chr11:86604727-Variant-A;Patient-88 chr11:86604727-GA DeNovo Patient-88 intergenic NA 0.000513 -0.25 0.51 -1.32 FZD4 61712 Variant A agatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaa CGACAGTTATCA CGACGCGGTCTCTCTCTagatagaaatagatggatagatatagatatatacatgcattgtatattttAtgcccaaaatagcagtggcttaaataaaagtatattcttcttgttaaaaAGAGGGAGACGGACGTCTCAATAAcgacagttatcaAGATCGAGACCCGACGC chr11:86604727-Variant-A;Patient-88 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative G acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CGATAGCTTCGG CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAcgatagcttcggAGATCGAGACCCGACGC chr11:88158670-Alternative-G;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative G acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc GATATGCGCGGT CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAgatatgcgcggtAGATCGAGACCCGACGC chr11:88158670-Alternative-G;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative G acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc GGATGCGCAGTT CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAggatgcgcagttAGATCGAGACCCGACGC chr11:88158670-Alternative-G;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Variant C acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CTGCTTGATAAG CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAActgcttgataagAGATCGAGACCCGACGC chr11:88158670-Variant-C;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Variant C acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CGGCTAGTGAAC CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAcggctagtgaacAGATCGAGACCCGACGC chr11:88158670-Variant-C;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Variant C acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc ACGGTAGATTGA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAacggtagattgaAGATCGAGACCCGACGC chr11:88158670-Variant-C;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative A acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CTAGGTAGGCCA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAActaggtaggccaAGATCGAGACCCGACGC chr11:88158670-Alternative-A;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative A acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc GCCTGCGCTTAA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAgcctgcgcttaaAGATCGAGACCCGACGC chr11:88158670-Alternative-A;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative A acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CACGGTCCTACA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAcacggtcctacaAGATCGAGACCCGACGC chr11:88158670-Alternative-A;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Reference T acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CGTCACAGCATA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAcgtcacagcataAGATCGAGACCCGACGC chr11:88158670-Reference-T;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Variant C acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc GAATGCGACGCA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAgaatgcgacgcaAGATCGAGACCCGACGC chr11:88158670-Variant-C;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative A acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc ACTGGTGGAATA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAactggtggaataAGATCGAGACCCGACGC chr11:88158670-Alternative-A;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Variant C acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CAGGTCTGTCCT CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgCagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAcaggtctgtcctAGATCGAGACCCGACGC chr11:88158670-Variant-C;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative A acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc ACGTTACTGCGG CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgAagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAacgttactgcggAGATCGAGACCCGACGC chr11:88158670-Alternative-A;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative G acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc GTGACTAACGAA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAgtgactaacgaaAGATCGAGACCCGACGC chr11:88158670-Alternative-G;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Reference T acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc AGCTATCGAACC CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAagctatcgaaccAGATCGAGACCCGACGC chr11:88158670-Reference-T;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Alternative G acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc AGAGCTGTCATA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgGagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAagagctgtcataAGATCGAGACCCGACGC chr11:88158670-Alternative-G;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Reference T acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CTAGGTACGGAA CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAActaggtacggaaAGATCGAGACCCGACGC chr11:88158670-Reference-T;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Reference T acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc AGACCACAAGGT CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAAagaccacaaggtAGATCGAGACCCGACGC chr11:88158670-Reference-T;Patient-30 chr11:88158670-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA CTSC 87714 Reference T acgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtc CTACAATACGGC CGACGCGGTCTCTCTCTacgaagaatagtattctggctacagttccgtgtaacaaattgcccaactgTagtggcttaaaatgacaattattttattatgttcacataagtgtaggtcAGAGGGAGACGGACGTCTCAATAActacaatacggcAGATCGAGACCCGACGC chr11:88158670-Reference-T;Patient-30 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Reference T ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GGTTACCTACGG CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAggttacctacggAGATCGAGACCCGACGC chr11:88846519-Reference-T;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Reference T ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct ACATGACTGAAC CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAacatgactgaacAGATCGAGACCCGACGC chr11:88846519-Reference-T;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative G ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct ACATAGATACGC CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAacatagatacgcAGATCGAGACCCGACGC chr11:88846519-Alternative-G;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Reference T ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct CGTGTAGAACGG CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAcgtgtagaacggAGATCGAGACCCGACGC chr11:88846519-Reference-T;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Reference T ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct CACATCAAGGTT CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAcacatcaaggttAGATCGAGACCCGACGC chr11:88846519-Reference-T;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative G ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct CAACATGACGAA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAcaacatgacgaaAGATCGAGACCCGACGC chr11:88846519-Alternative-G;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Variant C ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct CGCATACGTCAA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAcgcatacgtcaaAGATCGAGACCCGACGC chr11:88846519-Variant-C;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Reference T ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct AGATCGTACGGC CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaTacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAagatcgtacggcAGATCGAGACCCGACGC chr11:88846519-Reference-T;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative A ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GTGCTTGGACGT CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgtgcttggacgtAGATCGAGACCCGACGC chr11:88846519-Alternative-A;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Variant C ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GTCGTGCAGTAA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgtcgtgcagtaaAGATCGAGACCCGACGC chr11:88846519-Variant-C;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative A ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GCGCATCACGTT CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgcgcatcacgttAGATCGAGACCCGACGC chr11:88846519-Alternative-A;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative A ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct CATGCGATATCA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAcatgcgatatcaAGATCGAGACCCGACGC chr11:88846519-Alternative-A;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Variant C ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GCGGCGTAAGAA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgcggcgtaagaaAGATCGAGACCCGACGC chr11:88846519-Variant-C;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Variant C ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct AAGTCGATTCGT CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAaagtcgattcgtAGATCGAGACCCGACGC chr11:88846519-Variant-C;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative G ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct AGTCGATTGTGT CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAagtcgattgtgtAGATCGAGACCCGACGC chr11:88846519-Alternative-G;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative G ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GTCATCGTACGG CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgtcatcgtacggAGATCGAGACCCGACGC chr11:88846519-Alternative-G;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative A ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct ACAATAAGCGAC CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAacaataagcgacAGATCGAGACCCGACGC chr11:88846519-Alternative-A;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative G ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct AACGTAGCTCGA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaGacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAaacgtagctcgaAGATCGAGACCCGACGC chr11:88846519-Alternative-G;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Variant C ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct AGTCTCGACGAC CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaCacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAagtctcgacgacAGATCGAGACCCGACGC chr11:88846519-Variant-C;Patient-79 chr11:88846519-TC DeNovo Patient-79 intergenic NA 0.000512821 0.13 4.83 1.44 GRM5 49702 Alternative A ctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacct GAGGTTGTGATA CGACGCGGTCTCTCTCTctgcctgtttttctattcttgtgaactttctgtcaacttagattaacacaAacttttatacatctcatgtgtctaagatttcccttcttatcaccaacctAGAGGGAGACGGACGTCTCAATAAgaggttgtgataAGATCGAGACCCGACGC chr11:88846519-Alternative-A;Patient-79 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Reference C tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AATAAGATGCCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaataagatgccgAGATCGAGACCCGACGC chr11:88897806-Reference-C;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative T tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttc GAATTGGTGACA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAgaattggtgacaAGATCGAGACCCGACGC chr11:88897806-Alternative-T;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative T tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttc CGACGGCTAAGA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAcgacggctaagaAGATCGAGACCCGACGC chr11:88897806-Alternative-T;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative T tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttc GTCATCAACTGA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAgtcatcaactgaAGATCGAGACCCGACGC chr11:88897806-Alternative-T;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative A tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttc GTGAACAGTAGT CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAgtgaacagtagtAGATCGAGACCCGACGC chr11:88897806-Alternative-A;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative A tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttc ACCAATTAGCGT CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaccaattagcgtAGATCGAGACCCGACGC chr11:88897806-Alternative-A;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Reference C tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttc CAAGTAGCCACT CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAcaagtagccactAGATCGAGACCCGACGC chr11:88897806-Reference-C;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative T tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttc GTAATCGTAAGG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAgtaatcgtaaggAGATCGAGACCCGACGC chr11:88897806-Alternative-T;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Variant G tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttc CATCTCGAACCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAcatctcgaaccgAGATCGAGACCCGACGC chr11:88897806-Variant-G;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Variant G tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttc ATTCTGACGGCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAattctgacggcgAGATCGAGACCCGACGC chr11:88897806-Variant-G;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Variant G tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttc ACCGGTCTGTCA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaccggtctgtcaAGATCGAGACCCGACGC chr11:88897806-Variant-G;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative A tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AATAACGCTTCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaataacgcttcgAGATCGAGACCCGACGC chr11:88897806-Alternative-A;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Variant G tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AGATTCGTGCAG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAagattcgtgcagAGATCGAGACCCGACGC chr11:88897806-Variant-G;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Reference C tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttc ATAGCGATCCGT CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAatagcgatccgtAGATCGAGACCCGACGC chr11:88897806-Reference-C;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative T tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AACTCGGAATCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctTaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaactcggaatcgAGATCGAGACCCGACGC chr11:88897806-Alternative-T;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative A tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttc GTTGTAAGGCCG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAgttgtaaggccgAGATCGAGACCCGACGC chr11:88897806-Alternative-A;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Variant G tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AGCACGGTTGAG CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctGaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAagcacggttgagAGATCGAGACCCGACGC chr11:88897806-Variant-G;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Reference C tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttc CGTGCGTAGATT CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAcgtgcgtagattAGATCGAGACCCGACGC chr11:88897806-Reference-C;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Reference C tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttc AGGAGATCGATA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctCaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAaggagatcgataAGATCGAGACCCGACGC chr11:88897806-Reference-C;Patient-89 chr11:88897806-CG Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -2.69 TYR 13233 Alternative A tttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttc CGAGCGAATTAA CGACGCGGTCTCTCTCTtttgtatttttagtagagatggggcttcaccatgtcttaaattgtgagctAaggttctatgactctataaaagtttatatcatttgcggctgtaactttcAGAGGGAGACGGACGTCTCAATAAcgagcgaattaaAGATCGAGACCCGACGC chr11:88897806-Alternative-A;Patient-89 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative G cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GACGCACCTAAC CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgacgcacctaacAGATCGAGACCCGACGC chr11:93524104-Alternative-G;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative G cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GGATCAATAGGT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAggatcaataggtAGATCGAGACCCGACGC chr11:93524104-Alternative-G;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative A cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta AAGCGGATAGAA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAaagcggatagaaAGATCGAGACCCGACGC chr11:93524104-Alternative-A;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative A cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GTAGCGGAGTCT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgtagcggagtctAGATCGAGACCCGACGC chr11:93524104-Alternative-A;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative A cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GCGGACTTATCG CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgcggacttatcgAGATCGAGACCCGACGC chr11:93524104-Alternative-A;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative A cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CGGTGTCTATGG CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAcggtgtctatggAGATCGAGACCCGACGC chr11:93524104-Alternative-A;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative G cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CGATATGCGAAT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAcgatatgcgaatAGATCGAGACCCGACGC chr11:93524104-Alternative-G;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative G cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GTAAGCTGCGAG CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgtaagctgcgagAGATCGAGACCCGACGC chr11:93524104-Alternative-G;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Variant T cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GCATAAGGCCAT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgcataaggccatAGATCGAGACCCGACGC chr11:93524104-Variant-T;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative G cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GGCCGTCGAATT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatGtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAggccgtcgaattAGATCGAGACCCGACGC chr11:93524104-Alternative-G;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Alternative A cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CTCGGTTACTTA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatAtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAActcggttacttaAGATCGAGACCCGACGC chr11:93524104-Alternative-A;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Variant T cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GGACCGACATCA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAggaccgacatcaAGATCGAGACCCGACGC chr11:93524104-Variant-T;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Variant T cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CGATCGCGAGAA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAcgatcgcgagaaAGATCGAGACCCGACGC chr11:93524104-Variant-T;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Variant T cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CTTATCCGTGAT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAActtatccgtgatAGATCGAGACCCGACGC chr11:93524104-Variant-T;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Variant T cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GGAACTCCGTGT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatTtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAggaactccgtgtAGATCGAGACCCGACGC chr11:93524104-Variant-T;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Reference C cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta AACTTCGTAACG CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAaacttcgtaacgAGATCGAGACCCGACGC chr11:93524104-Reference-C;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Reference C cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GCAACGACTCGT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgcaacgactcgtAGATCGAGACCCGACGC chr11:93524104-Reference-C;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Reference C cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta GCAGCAGTCGAA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAgcagcagtcgaaAGATCGAGACCCGACGC chr11:93524104-Reference-C;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Reference C cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta AGGACGGTCGAT CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAaggacggtcgatAGATCGAGACCCGACGC chr11:93524104-Reference-C;Patient-91 chr11:93524104-CT DeNovo Patient-91 intronic MED17 NA 9.9e-05 -0.07 1.65 -0.49 MED17 6698 Reference C cttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgta CACGATGTAGAA CGACGCGGTCTCTCTCTcttgaggccaggagttcaagatgagcccaggcaacatggcaaaaccctatCtctaccaaaaatgcaaaaaattagccaggcgtggtaacacgcacctgtaAGAGGGAGACGGACGTCTCAATAAcacgatgtagaaAGATCGAGACCCGACGC chr11:93524104-Reference-C;Patient-91 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Variant C tacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc ATATGATCCGAC CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAatatgatccgacAGATCGAGACCCGACGC chr11:93851295-Variant-C;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Variant C tacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc CAATGAAGACGG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAcaatgaagacggAGATCGAGACCCGACGC chr11:93851295-Variant-C;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Reference T tacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc CTAAGGATCTGG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAActaaggatctggAGATCGAGACCCGACGC chr11:93851295-Reference-T;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative G tacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc AAGGAACGAAGG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAaaggaacgaaggAGATCGAGACCCGACGC chr11:93851295-Alternative-G;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Reference T tacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GTTCACGGCAAT CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgttcacggcaatAGATCGAGACCCGACGC chr11:93851295-Reference-T;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Variant C tacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GACAACTGCATT CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgacaactgcattAGATCGAGACCCGACGC chr11:93851295-Variant-C;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Reference T tacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GCAAGTGTCGTC CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgcaagtgtcgtcAGATCGAGACCCGACGC chr11:93851295-Reference-T;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Reference T tacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc AACGACACGTCC CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAaacgacacgtccAGATCGAGACCCGACGC chr11:93851295-Reference-T;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative A tacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GAGTATCTCGGC CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgagtatctcggcAGATCGAGACCCGACGC chr11:93851295-Alternative-A;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative A tacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc CGGCGTGAACTT CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAcggcgtgaacttAGATCGAGACCCGACGC chr11:93851295-Alternative-A;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative G tacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GTAGGATATCAG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgtaggatatcagAGATCGAGACCCGACGC chr11:93851295-Alternative-G;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Reference T tacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc ATAAGGCCAATC CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccTcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAataaggccaatcAGATCGAGACCCGACGC chr11:93851295-Reference-T;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative A tacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GATGCGCGAGAT CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgatgcgcgagatAGATCGAGACCCGACGC chr11:93851295-Alternative-A;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative G tacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc CAACCGGTCAAG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAcaaccggtcaagAGATCGAGACCCGACGC chr11:93851295-Alternative-G;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative A tacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GATGAACAGACG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgatgaacagacgAGATCGAGACCCGACGC chr11:93851295-Alternative-A;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative A tacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc ATCAACCTAGCG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccAcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAatcaacctagcgAGATCGAGACCCGACGC chr11:93851295-Alternative-A;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative G tacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc CTACCATTGGAA CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAActaccattggaaAGATCGAGACCCGACGC chr11:93851295-Alternative-G;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Alternative G tacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc GTACACGGTAGG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccGcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAgtacacggtaggAGATCGAGACCCGACGC chr11:93851295-Alternative-G;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Variant C tacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc ACGGCGTAGTCT CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAacggcgtagtctAGATCGAGACCCGACGC chr11:93851295-Variant-C;Patient-81 chr11:93851295-TC DeNovo Patient-81 intergenic 3.2e-05 0.00103 -0.03 2.24 0.78 PANX1 10798 Variant C tacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctc ATAGCAGAACGG CGACGCGGTCTCTCTCTtacatggctggcagattaatcatcttaaagcacaacatcctttatattccCcccttccaaaaaccccctaatgcctactgaaaaaaatctgaactacctcAGAGGGAGACGGACGTCTCAATAAatagcagaacggAGATCGAGACCCGACGC chr11:93851295-Variant-C;Patient-81 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Reference G tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag AGGCGCTATAAT CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAaggcgctataatAGATCGAGACCCGACGC chr11:95429253-Reference-G;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Reference G tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GTATAGTTGACC CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAgtatagttgaccAGATCGAGACCCGACGC chr11:95429253-Reference-G;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Reference G tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GAAGTGTCGCCT CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAgaagtgtcgcctAGATCGAGACCCGACGC chr11:95429253-Reference-G;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Reference G tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CGTAGCTACACG CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAcgtagctacacgAGATCGAGACCCGACGC chr11:95429253-Reference-G;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative T tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CGCTTGGTTAGG CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAcgcttggttaggAGATCGAGACCCGACGC chr11:95429253-Alternative-T;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative T tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GACCTAATTACG CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAgacctaattacgAGATCGAGACCCGACGC chr11:95429253-Alternative-T;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Reference G tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GATCGGACATTA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtGgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAgatcggacattaAGATCGAGACCCGACGC chr11:95429253-Reference-G;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative T tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GAATTGTGTGGT CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAgaattgtgtggtAGATCGAGACCCGACGC chr11:95429253-Alternative-T;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative T tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag AGTTGAGAACGC CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAagttgagaacgcAGATCGAGACCCGACGC chr11:95429253-Alternative-T;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative T tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CGTTCGTTACGC CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtTgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAcgttcgttacgcAGATCGAGACCCGACGC chr11:95429253-Alternative-T;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Variant A tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GGTGCGTGTAGA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAggtgcgtgtagaAGATCGAGACCCGACGC chr11:95429253-Variant-A;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative C tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GGTGATAGCGAA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAggtgatagcgaaAGATCGAGACCCGACGC chr11:95429253-Alternative-C;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative C tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CGACTCGTGACA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAcgactcgtgacaAGATCGAGACCCGACGC chr11:95429253-Alternative-C;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Variant A tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CTCATCGTTCAA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAActcatcgttcaaAGATCGAGACCCGACGC chr11:95429253-Variant-A;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Variant A tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CTAGCTCACGTC CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAActagctcacgtcAGATCGAGACCCGACGC chr11:95429253-Variant-A;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Variant A tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag ACATGACACCGA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAacatgacaccgaAGATCGAGACCCGACGC chr11:95429253-Variant-A;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative C tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag AGCGGCAGAGAA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAagcggcagagaaAGATCGAGACCCGACGC chr11:95429253-Alternative-C;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative C tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CTAGACTGACTA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAActagactgactaAGATCGAGACCCGACGC chr11:95429253-Alternative-C;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Alternative C tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag GGTTCGGTATAT CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtCgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAggttcggtatatAGATCGAGACCCGACGC chr11:95429253-Alternative-C;Patient-65 chr11:95429253-GA Inherited Patient-65 intergenic 0.000159 0.000512821 0.31 7.38 0.21 CEP57 94371 Variant A tcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaag CGTATCTTCTGA CGACGCGGTCTCTCTCTtcatatgatgtggaaggagtccagaagctcctgaatgcctccgggaatgtAgaccatgagtgctggctggtgaacttactcaaggcaacgatgggccaagAGAGGGAGACGGACGTCTCAATAAcgtatcttctgaAGATCGAGACCCGACGC chr11:95429253-Variant-A;Patient-65 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Variant C ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GTGACTTAATCG CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgtgacttaatcgAGATCGAGACCCGACGC chr11:95688729-Variant-C;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Variant C ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GATCATACCGCA CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgatcataccgcaAGATCGAGACCCGACGC chr11:95688729-Variant-C;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Variant C ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CGTAACAGGATT CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAcgtaacaggattAGATCGAGACCCGACGC chr11:95688729-Variant-C;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Variant C ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CTGCGTGCTAAC CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAActgcgtgctaacAGATCGAGACCCGACGC chr11:95688729-Variant-C;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Reference A ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CAAGCGGCGTTA CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAcaagcggcgttaAGATCGAGACCCGACGC chr11:95688729-Reference-A;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Reference A ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CGGCTGGTCTAA CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAcggctggtctaaAGATCGAGACCCGACGC chr11:95688729-Reference-A;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Reference A ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GTGATCCACGGT CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgtgatccacggtAGATCGAGACCCGACGC chr11:95688729-Reference-A;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Reference A ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg ACGAATGCACCA CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAacgaatgcaccaAGATCGAGACCCGACGC chr11:95688729-Reference-A;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative G ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GGAACGGATTGC CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAggaacggattgcAGATCGAGACCCGACGC chr11:95688729-Alternative-G;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Variant C ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CGCCAACAATAT CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggCatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAcgccaacaatatAGATCGAGACCCGACGC chr11:95688729-Variant-C;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative G ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GTAAGGTGGTGG CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgtaaggtggtggAGATCGAGACCCGACGC chr11:95688729-Alternative-G;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative G ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg ACGACGTATAAG CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAacgacgtataagAGATCGAGACCCGACGC chr11:95688729-Alternative-G;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative G ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg AGAGTAACGACG CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAagagtaacgacgAGATCGAGACCCGACGC chr11:95688729-Alternative-G;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative T ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg ACTATCGTTCCA CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAactatcgttccaAGATCGAGACCCGACGC chr11:95688729-Alternative-T;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative T ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg ATAGCGATCTGG CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAatagcgatctggAGATCGAGACCCGACGC chr11:95688729-Alternative-T;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative G ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg AGATGCGGCAAT CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggGatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAagatgcggcaatAGATCGAGACCCGACGC chr11:95688729-Alternative-G;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative T ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg AGCTTAGTCGAT CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAagcttagtcgatAGATCGAGACCCGACGC chr11:95688729-Alternative-T;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative T ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg CGTCCAACGTAC CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAcgtccaacgtacAGATCGAGACCCGACGC chr11:95688729-Alternative-T;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Alternative T ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GTAGGATCGAAC CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggTatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgtaggatcgaacAGATCGAGACCCGACGC chr11:95688729-Alternative-T;Patient-91 chr11:95688729-AC Inherited Patient-91 intergenic NA 0.000513 0.04 3.2 -1.95 MTMR2 31357 Reference A ctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagaggg GTACCTTCTGAC CGACGCGGTCTCTCTCTctgttgtttattatcggtggctcttagctagtatgtaaactccataaaggAatcttggttgactttgcccaccgatatgtctcaagcatccataagagggAGAGGGAGACGGACGTCTCAATAAgtaccttctgacAGATCGAGACCCGACGC chr11:95688729-Reference-A;Patient-91 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative G gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CTCATTCGTGCG CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAActcattcgtgcgAGATCGAGACCCGACGC chr11:95744810-Alternative-G;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Reference T gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CGTTCTTCAGAT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAcgttcttcagatAGATCGAGACCCGACGC chr11:95744810-Reference-T;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Reference T gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GGATGTACGTGG CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAggatgtacgtggAGATCGAGACCCGACGC chr11:95744810-Reference-T;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative A gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CAGGTACCTGCA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAcaggtacctgcaAGATCGAGACCCGACGC chr11:95744810-Alternative-A;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Reference T gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GCAGGACGATCA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAgcaggacgatcaAGATCGAGACCCGACGC chr11:95744810-Reference-T;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative G gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc ACTTCATCCTGA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAacttcatcctgaAGATCGAGACCCGACGC chr11:95744810-Alternative-G;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative A gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GGTGTTAGCTTA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAggtgttagcttaAGATCGAGACCCGACGC chr11:95744810-Alternative-A;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative G gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc ACACGCGAGTAT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAacacgcgagtatAGATCGAGACCCGACGC chr11:95744810-Alternative-G;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative G gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GTGTAACCGGAC CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAgtgtaaccggacAGATCGAGACCCGACGC chr11:95744810-Alternative-G;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Reference T gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GATACGGAACGA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAgatacggaacgaAGATCGAGACCCGACGC chr11:95744810-Reference-T;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative G gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc AATGGCATCGCG CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaGagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAaatggcatcgcgAGATCGAGACCCGACGC chr11:95744810-Alternative-G;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Reference T gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc ATTGTTCCGGAA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaTagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAattgttccggaaAGATCGAGACCCGACGC chr11:95744810-Reference-T;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative A gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GAATGGCTAAGA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAgaatggctaagaAGATCGAGACCCGACGC chr11:95744810-Alternative-A;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative A gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc GGTCAAGTTATC CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAggtcaagttatcAGATCGAGACCCGACGC chr11:95744810-Alternative-A;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Variant C gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc AGCAATGCGTAT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAagcaatgcgtatAGATCGAGACCCGACGC chr11:95744810-Variant-C;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Variant C gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CGTTGATGTGAT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAcgttgatgtgatAGATCGAGACCCGACGC chr11:95744810-Variant-C;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Variant C gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc ACGTGTATTCGA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAacgtgtattcgaAGATCGAGACCCGACGC chr11:95744810-Variant-C;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Variant C gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CTCTCTAGTAGT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAActctctagtagtAGATCGAGACCCGACGC chr11:95744810-Variant-C;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Alternative A gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc ATCATGGTTGCA CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaAagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAatcatggttgcaAGATCGAGACCCGACGC chr11:95744810-Alternative-A;Patient-104 chr11:95744810-TC DeNovo Patient-104 intronic MAML2 3.2e-05 3.91e-05 0.11 4.47 0.23 MTMR2 87438 Variant C gacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgc CGAGTCAATGAT CGACGCGGTCTCTCTCTgacaaagtacccattgggtactatgttcactatttgggtgacgggatcaaCagaagcccaaacctcatcatcatgcaatataaccatggagcaaatctgcAGAGGGAGACGGACGTCTCAATAAcgagtcaatgatAGATCGAGACCCGACGC chr11:95744810-Variant-C;Patient-104 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative G caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GCAATCTGGTTC CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgcaatctggttcAGATCGAGACCCGACGC chr11:96015432-Alternative-G;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative G caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaagg CAGTTGAACAGT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAcagttgaacagtAGATCGAGACCCGACGC chr11:96015432-Alternative-G;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative G caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaagg CATTCATAACGC CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAcattcataacgcAGATCGAGACCCGACGC chr11:96015432-Alternative-G;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative G caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaagg ACGAATGCGATT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAacgaatgcgattAGATCGAGACCCGACGC chr11:96015432-Alternative-G;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Reference T caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaagg ATAGACCTACCT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAatagacctacctAGATCGAGACCCGACGC chr11:96015432-Reference-T;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative G caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaagg ATTGGTTCGGAT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaGaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAattggttcggatAGATCGAGACCCGACGC chr11:96015432-Alternative-G;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Reference T caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GACATCGCTGCA CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgacatcgctgcaAGATCGAGACCCGACGC chr11:96015432-Reference-T;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Reference T caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaagg ATTCGCTTGGAA CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAattcgcttggaaAGATCGAGACCCGACGC chr11:96015432-Reference-T;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Variant A caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GCCAATATCAGG CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgccaatatcaggAGATCGAGACCCGACGC chr11:96015432-Variant-A;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Reference T caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GAGTGTGGTAGA CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgagtgtggtagaAGATCGAGACCCGACGC chr11:96015432-Reference-T;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Reference T caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaagg CGTGCAGATAGT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaTaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAcgtgcagatagtAGATCGAGACCCGACGC chr11:96015432-Reference-T;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Variant A caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaagg CTAAGCATATCG CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAActaagcatatcgAGATCGAGACCCGACGC chr11:96015432-Variant-A;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Variant A caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaagg CTCGCTAAGGCA CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAActcgctaaggcaAGATCGAGACCCGACGC chr11:96015432-Variant-A;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Variant A caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GGTGTTGATACT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAggtgttgatactAGATCGAGACCCGACGC chr11:96015432-Variant-A;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative C caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaagg AATCTCTCAAGG CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAaatctctcaaggAGATCGAGACCCGACGC chr11:96015432-Alternative-C;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative C caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GTCTAGGATATC CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgtctaggatatcAGATCGAGACCCGACGC chr11:96015432-Alternative-C;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative C caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GACTGACTGCGA CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgactgactgcgaAGATCGAGACCCGACGC chr11:96015432-Alternative-C;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative C caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GGATATAGGCTT CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAggatataggcttAGATCGAGACCCGACGC chr11:96015432-Alternative-C;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Alternative C caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GGTACATGGTAC CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaCaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAggtacatggtacAGATCGAGACCCGACGC chr11:96015432-Alternative-C;Patient-65 chr11:96015432-TA DeNovo Patient-65 intronic MAML2 0.000165 4.95e-05 -0.09 1.51 0 MAML2 60911 Variant A caacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaagg GTACGTGCTATC CGACGCGGTCTCTCTCTcaacctgggcgacagagcaagactccatctcaaaaaaaaaataataataaAaataataataatgactgcatgtatgtacttggcatgatcattatgaaggAGAGGGAGACGGACGTCTCAATAAgtacgtgctatcAGATCGAGACCCGACGC chr11:96015432-Variant-A;Patient-65 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative A actttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CTGTCAACGAGA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAActgtcaacgagaAGATCGAGACCCGACGC chr11:9603026-Alternative-A;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative A actttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CGTCTATAGCTT CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAcgtctatagcttAGATCGAGACCCGACGC chr11:9603026-Alternative-A;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative A actttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CGGCGGTTGTAA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAcggcggttgtaaAGATCGAGACCCGACGC chr11:9603026-Alternative-A;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Variant C actttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt AGCGGTGATTAA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAagcggtgattaaAGATCGAGACCCGACGC chr11:9603026-Variant-C;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Variant C actttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GGTATTCACCGG CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAggtattcaccggAGATCGAGACCCGACGC chr11:9603026-Variant-C;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative T actttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GTAGTACGAGAT CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgtagtacgagatAGATCGAGACCCGACGC chr11:9603026-Alternative-T;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Variant C actttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GATCCGTTACGG CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgatccgttacggAGATCGAGACCCGACGC chr11:9603026-Variant-C;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative A actttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CGTTGATCTTGT CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAcgttgatcttgtAGATCGAGACCCGACGC chr11:9603026-Alternative-A;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative A actttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GGTATCCGATGA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaAaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAggtatccgatgaAGATCGAGACCCGACGC chr11:9603026-Alternative-A;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Variant C actttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CAAGTCGGCCAT CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAcaagtcggccatAGATCGAGACCCGACGC chr11:9603026-Variant-C;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Variant C actttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt AGATATAGCGCA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaCaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAagatatagcgcaAGATCGAGACCCGACGC chr11:9603026-Variant-C;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Reference G actttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GTAATAAGCGAC CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgtaataagcgacAGATCGAGACCCGACGC chr11:9603026-Reference-G;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Reference G actttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt AATCTGCAAGTC CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAaatctgcaagtcAGATCGAGACCCGACGC chr11:9603026-Reference-G;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative T actttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CGGTCATAAGAA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAcggtcataagaaAGATCGAGACCCGACGC chr11:9603026-Alternative-T;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative T actttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GTAGTGACGTTA CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgtagtgacgttaAGATCGAGACCCGACGC chr11:9603026-Alternative-T;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative T actttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GTGCCGCTTAAC CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgtgccgcttaacAGATCGAGACCCGACGC chr11:9603026-Alternative-T;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Alternative T actttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt AGTGTAACACAG CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaTaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAagtgtaacacagAGATCGAGACCCGACGC chr11:9603026-Alternative-T;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Reference G actttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CTCGTTGACGAG CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAActcgttgacgagAGATCGAGACCCGACGC chr11:9603026-Reference-G;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Reference G actttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt GTCATCGTGCAG CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAAgtcatcgtgcagAGATCGAGACCCGACGC chr11:9603026-Reference-G;Patient-24 chr11:9603026-GC DeNovo Patient-24 intronic WEE1 NA 4.95e-05 0.23 6.24 3.29 WEE1 7797 Reference G actttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgt CTATACGTGCGC CGACGCGGTCTCTCTCTactttcttggttgagattggttggttgagactcatttggtaaagatggaaGaaagaaaatatttcagaaagaagaaaatgctaatattttctatctttgtAGAGGGAGACGGACGTCTCAATAActatacgtgcgcAGATCGAGACCCGACGC chr11:9603026-Reference-G;Patient-24 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative A tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctga CTTAGAGCGTTC CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAActtagagcgttcAGATCGAGACCCGACGC chr11:96079938-Alternative-A;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative A tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctga ACCGCTGAAGAT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAaccgctgaagatAGATCGAGACCCGACGC chr11:96079938-Alternative-A;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Reference C tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctga CTGAAGTTGGAA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAActgaagttggaaAGATCGAGACCCGACGC chr11:96079938-Reference-C;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative A tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctga AGCTGTAGATGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAagctgtagatgtAGATCGAGACCCGACGC chr11:96079938-Alternative-A;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Reference C tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GATCCATTCTGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAgatccattctgtAGATCGAGACCCGACGC chr11:96079938-Reference-C;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative A tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctga GGCTTAACTTGA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAggcttaacttgaAGATCGAGACCCGACGC chr11:96079938-Alternative-A;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Variant T tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctga ACCGGACGTACA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAaccggacgtacaAGATCGAGACCCGACGC chr11:96079938-Variant-T;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Variant T tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GCGTCATCGAGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAgcgtcatcgagtAGATCGAGACCCGACGC chr11:96079938-Variant-T;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Reference C tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GGAGGTCGAGTT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAggaggtcgagttAGATCGAGACCCGACGC chr11:96079938-Reference-C;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Reference C tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GCGTACTAATGA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAgcgtactaatgaAGATCGAGACCCGACGC chr11:96079938-Reference-C;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative A tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctga ACGTCTTGGTGG CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatActgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAacgtcttggtggAGATCGAGACCCGACGC chr11:96079938-Alternative-A;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Reference C tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctga AGGCTAATACCA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatCctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAaggctaataccaAGATCGAGACCCGACGC chr11:96079938-Reference-C;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative G tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctga ATAGTTAACCGG CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAatagttaaccggAGATCGAGACCCGACGC chr11:96079938-Alternative-G;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Variant T tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GCGTCTGGATGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAgcgtctggatgtAGATCGAGACCCGACGC chr11:96079938-Variant-T;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Variant T tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctga AATAGGTCCTAC CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAaataggtcctacAGATCGAGACCCGACGC chr11:96079938-Variant-T;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative G tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctga AGGACATAACGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAaggacataacgtAGATCGAGACCCGACGC chr11:96079938-Alternative-G;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Variant T tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctga ATCGCTATCTGT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatTctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAatcgctatctgtAGATCGAGACCCGACGC chr11:96079938-Variant-T;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative G tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctga GACGGACTCGTT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAgacggactcgttAGATCGAGACCCGACGC chr11:96079938-Alternative-G;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative G tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctga CTCGCGTTGTGA CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAActcgcgttgtgaAGATCGAGACCCGACGC chr11:96079938-Alternative-G;Patient-35 chr11:96079938-CT DeNovo Patient-35 intergenic 0.000131 0.000513 0.2 5.9 0 MAML2 3593 Alternative G tgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctga CACGTGCTTATT CGACGCGGTCTCTCTCTtgttattggtgtataagaatgcttgtgatttttgcacattgattttgtatGctgagactttgctgaagttgcttatcagcttaaggagattttgggctgaAGAGGGAGACGGACGTCTCAATAAcacgtgcttattAGATCGAGACCCGACGC chr11:96079938-Alternative-G;Patient-35 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative G ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GTGCCAGTTATA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAgtgccagttataAGATCGAGACCCGACGC chr11:98903594-Alternative-G;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Variant A ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ATCGTCCATCTA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAatcgtccatctaAGATCGAGACCCGACGC chr11:98903594-Variant-A;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative G ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GGCTTATGGATT CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAggcttatggattAGATCGAGACCCGACGC chr11:98903594-Alternative-G;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Variant A ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ACGAGCGAGAAG CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAacgagcgagaagAGATCGAGACCCGACGC chr11:98903594-Variant-A;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative C ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa CAGATAGTCTGG CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAcagatagtctggAGATCGAGACCCGACGC chr11:98903594-Alternative-C;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative G ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GTAACGCGTCGT CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAgtaacgcgtcgtAGATCGAGACCCGACGC chr11:98903594-Alternative-G;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Variant A ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ATCTCGTTATGC CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAatctcgttatgcAGATCGAGACCCGACGC chr11:98903594-Variant-A;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Variant A ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ATCGTTGTCGAA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAatcgttgtcgaaAGATCGAGACCCGACGC chr11:98903594-Variant-A;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Variant A ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ATCTCAACACAC CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaAtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAatctcaacacacAGATCGAGACCCGACGC chr11:98903594-Variant-A;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative G ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa AGTTAGCTGGAA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAagttagctggaaAGATCGAGACCCGACGC chr11:98903594-Alternative-G;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Reference T ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ACAACGCAACGG CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAacaacgcaacggAGATCGAGACCCGACGC chr11:98903594-Reference-T;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative C ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GCATTGTGGTTA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAgcattgtggttaAGATCGAGACCCGACGC chr11:98903594-Alternative-C;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative C ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ACACCTAGTACC CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAacacctagtaccAGATCGAGACCCGACGC chr11:98903594-Alternative-C;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Reference T ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa CGTGTAACTTGA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAcgtgtaacttgaAGATCGAGACCCGACGC chr11:98903594-Reference-T;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative G ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GATCGAATCCGA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaGtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAgatcgaatccgaAGATCGAGACCCGACGC chr11:98903594-Alternative-G;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative C ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa ACCACAAGATGA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAaccacaagatgaAGATCGAGACCCGACGC chr11:98903594-Alternative-C;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Alternative C ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa GTGACGGTCTAC CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaCtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAgtgacggtctacAGATCGAGACCCGACGC chr11:98903594-Alternative-C;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Reference T ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa CTCTTAGCCGAC CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAActcttagccgacAGATCGAGACCCGACGC chr11:98903594-Reference-T;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Reference T ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa AAGTGTTCCAGT CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAAaagtgttccagtAGATCGAGACCCGACGC chr11:98903594-Reference-T;Patient-10 chr11:98903594-TA DeNovo Patient-10 intronic CNTN5 7.1e-05 0.000479 -0.02 2.28 0 CNTN5 11887 Reference T ttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaa CTACGCTACGAA CGACGCGGTCTCTCTCTttggtgttttagacatgaagtccttgtccatgcctatgtcctgaatggtaTtgcctaggttttcttctagggtttttatggttttaggtctaacgtttaaAGAGGGAGACGGACGTCTCAATAActacgctacgaaAGATCGAGACCCGACGC chr11:98903594-Reference-T;Patient-10 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Reference G cttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CGGAATTGCAAT CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcggaattgcaatAGATCGAGACCCGACGC chr11:98904515-Reference-G;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Reference G cttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GGTAGCATGTGG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAggtagcatgtggAGATCGAGACCCGACGC chr11:98904515-Reference-G;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative A cttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CAGTACACCTTA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcagtacaccttaAGATCGAGACCCGACGC chr11:98904515-Alternative-A;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative A cttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GCGCAAGTTATA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgcgcaagttataAGATCGAGACCCGACGC chr11:98904515-Alternative-A;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Reference G cttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GACCAAGTCTAT CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgaccaagtctatAGATCGAGACCCGACGC chr11:98904515-Reference-G;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Reference G cttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CGATGTCCGTGA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcgatgtccgtgaAGATCGAGACCCGACGC chr11:98904515-Reference-G;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative A cttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatcc AGTACGAATCAG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAagtacgaatcagAGATCGAGACCCGACGC chr11:98904515-Alternative-A;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Variant C cttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GCAAGTCATAAC CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgcaagtcataacAGATCGAGACCCGACGC chr11:98904515-Variant-C;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative T cttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CAGTCGCTACCT CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcagtcgctacctAGATCGAGACCCGACGC chr11:98904515-Alternative-T;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative A cttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatcc AATAACGAGTCG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAaataacgagtcgAGATCGAGACCCGACGC chr11:98904515-Alternative-A;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative A cttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatcc AGATGGTCAACA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgAccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAagatggtcaacaAGATCGAGACCCGACGC chr11:98904515-Alternative-A;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Reference G cttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CATCAAGTTGGT CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgGccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcatcaagttggtAGATCGAGACCCGACGC chr11:98904515-Reference-G;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Variant C cttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GTATTCGACAAC CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgtattcgacaacAGATCGAGACCCGACGC chr11:98904515-Variant-C;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative T cttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GAGTTACGTTGT CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgagttacgttgtAGATCGAGACCCGACGC chr11:98904515-Alternative-T;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Variant C cttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatcc ACGAGACTGTGG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAacgagactgtggAGATCGAGACCCGACGC chr11:98904515-Variant-C;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Variant C cttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatcc AATGTAACTCGG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAaatgtaactcggAGATCGAGACCCGACGC chr11:98904515-Variant-C;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative T cttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CATAACATTCGC CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcataacattcgcAGATCGAGACCCGACGC chr11:98904515-Alternative-T;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative T cttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GCGACCTTAAGA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgcgaccttaagaAGATCGAGACCCGACGC chr11:98904515-Alternative-T;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Alternative T cttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatcc GTTCTGGTGTGG CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgTccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAgttctggtgtggAGATCGAGACCCGACGC chr11:98904515-Alternative-T;Patient-81 chr11:98904515-GC DeNovo Patient-81 intronic CNTN5 NA 0.000319 -0.14 1.09 0 CNTN5 12808 Variant C cttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatcc CACTTCGAGCCA CGACGCGGTCTCTCTCTcttttcctaattgaataccctttatttccttcacctgcctaattgccctgCccagaacttccaacactatggtgaataggagtggtgagagagggcatccAGAGGGAGACGGACGTCTCAATAAcacttcgagccaAGATCGAGACCCGACGC chr11:98904515-Variant-C;Patient-81 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Reference C tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GTTAGCGTCTAA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAgttagcgtctaaAGATCGAGACCCGACGC chr12:102367777-Reference-C;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Reference C tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GACGTTACCACG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAgacgttaccacgAGATCGAGACCCGACGC chr12:102367777-Reference-C;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative A tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GTGCGGTTCGAT CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAgtgcggttcgatAGATCGAGACCCGACGC chr12:102367777-Alternative-A;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Reference C tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CTCTGAACGAAC CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAActctgaacgaacAGATCGAGACCCGACGC chr12:102367777-Reference-C;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative A tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CACTTATTACGG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAcacttattacggAGATCGAGACCCGACGC chr12:102367777-Alternative-A;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Variant T tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GGTTGCTTCGCT CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAggttgcttcgctAGATCGAGACCCGACGC chr12:102367777-Variant-T;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Reference C tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttatta ACGCAATCAACG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAacgcaatcaacgAGATCGAGACCCGACGC chr12:102367777-Reference-C;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Reference C tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CTTACCACTCTT CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgCgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAActtaccactcttAGATCGAGACCCGACGC chr12:102367777-Reference-C;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative A tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AGCTCAACGCAA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAagctcaacgcaaAGATCGAGACCCGACGC chr12:102367777-Alternative-A;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Variant T tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AGCTGTATCCGG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAagctgtatccggAGATCGAGACCCGACGC chr12:102367777-Variant-T;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative G tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AGTCGAACTGCG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAagtcgaactgcgAGATCGAGACCCGACGC chr12:102367777-Alternative-G;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative G tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GGCTGTGATTCG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAggctgtgattcgAGATCGAGACCCGACGC chr12:102367777-Alternative-G;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative G tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AATGGCGATAAC CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAaatggcgataacAGATCGAGACCCGACGC chr12:102367777-Alternative-G;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Variant T tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CGGCTGAAGTCA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAcggctgaagtcaAGATCGAGACCCGACGC chr12:102367777-Variant-T;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative A tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AATAGGCTACCT CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAaataggctacctAGATCGAGACCCGACGC chr12:102367777-Alternative-A;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative G tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CGGTGTACAAGG CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAcggtgtacaaggAGATCGAGACCCGACGC chr12:102367777-Alternative-G;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Variant T tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GAGCATGCAATA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAgagcatgcaataAGATCGAGACCCGACGC chr12:102367777-Variant-T;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative A tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttatta CTCGTGAATCAA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgAgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAActcgtgaatcaaAGATCGAGACCCGACGC chr12:102367777-Alternative-A;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Variant T tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttatta AAGATCACACGA CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgTgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAaagatcacacgaAGATCGAGACCCGACGC chr12:102367777-Variant-T;Patient-26 chr12:102367777-CT DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.16 0.93 0.76 WASHC3 88121 Alternative G tattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttatta GCGAAGTAAGTT CGACGCGGTCTCTCTCTtattctagcgttgccaggctttcagcataagtaagatagaaaacagagcgGgaactctcatttgttctatcaagaaagcataaatattgggttcttattaAGAGGGAGACGGACGTCTCAATAAgcgaagtaagttAGATCGAGACCCGACGC chr12:102367777-Alternative-G;Patient-26 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Variant G tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg GCATCAAGTGTT CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAgcatcaagtgttAGATCGAGACCCGACGC chr12:102381551-Variant-G;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Variant G tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AGGAAGACGACG CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAaggaagacgacgAGATCGAGACCCGACGC chr12:102381551-Variant-G;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Variant G tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AGGCTAACATGA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAaggctaacatgaAGATCGAGACCCGACGC chr12:102381551-Variant-G;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Variant G tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg GAGATACGGTTA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAgagatacggttaAGATCGAGACCCGACGC chr12:102381551-Variant-G;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Variant G tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg ATTGTCTCCTAC CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccGtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAattgtctcctacAGATCGAGACCCGACGC chr12:102381551-Variant-G;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative T tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CACGATCCGAGT CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAcacgatccgagtAGATCGAGACCCGACGC chr12:102381551-Alternative-T;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative T tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg GGCTTATGATAC CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAggcttatgatacAGATCGAGACCCGACGC chr12:102381551-Alternative-T;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative T tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AGTTGTGCGGAC CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAagttgtgcggacAGATCGAGACCCGACGC chr12:102381551-Alternative-T;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative T tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CGAGGATTGCGA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAcgaggattgcgaAGATCGAGACCCGACGC chr12:102381551-Alternative-T;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Reference A tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CATTCGAGTCGA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAcattcgagtcgaAGATCGAGACCCGACGC chr12:102381551-Reference-A;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative T tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg ATATGTGGAGCA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccTtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAatatgtggagcaAGATCGAGACCCGACGC chr12:102381551-Alternative-T;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Reference A tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CTATGACCGCCA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAActatgaccgccaAGATCGAGACCCGACGC chr12:102381551-Reference-A;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative C tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CTGCTACCGACT CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAActgctaccgactAGATCGAGACCCGACGC chr12:102381551-Alternative-C;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Reference A tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AGCATAGATGCA CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAagcatagatgcaAGATCGAGACCCGACGC chr12:102381551-Reference-A;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Reference A tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AACAACGTCTAC CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAaacaacgtctacAGATCGAGACCCGACGC chr12:102381551-Reference-A;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative C tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg GGTTAGTAGCGG CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAggttagtagcggAGATCGAGACCCGACGC chr12:102381551-Alternative-C;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Reference A tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg ACATCAATCGCG CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccAtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAacatcaatcgcgAGATCGAGACCCGACGC chr12:102381551-Reference-A;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative C tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CTATACCTTACG CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAActataccttacgAGATCGAGACCCGACGC chr12:102381551-Alternative-C;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative C tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg AATAGTTGCGCT CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAAaatagttgcgctAGATCGAGACCCGACGC chr12:102381551-Alternative-C;Patient-92 chr12:102381551-AG Inherited Patient-92 intergenic NA 0.000513 -0.02 2.39 0.2 WASHC3 74347 Alternative C tgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatg CTTGGACAGTCG CGACGCGGTCTCTCTCTtgtctttttgtccttggcttatttcacttaacatagtgaccgccagttccCtccatgttgttgcaaatgacaggatctcatttcttttttaatgagaatgAGAGGGAGACGGACGTCTCAATAActtggacagtcgAGATCGAGACCCGACGC chr12:102381551-Alternative-C;Patient-92 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Reference A aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg ACAGATTGCGGC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAacagattgcggcAGATCGAGACCCGACGC chr12:102819302-Reference-A;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Reference A aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg ACGCGATTGAAC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAacgcgattgaacAGATCGAGACCCGACGC chr12:102819302-Reference-A;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative T aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg ATTCTGCGTCTA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAattctgcgtctaAGATCGAGACCCGACGC chr12:102819302-Alternative-T;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative T aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg AGTACGAGATCA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAagtacgagatcaAGATCGAGACCCGACGC chr12:102819302-Alternative-T;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Reference A aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg GGCGTGGAGATT CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAggcgtggagattAGATCGAGACCCGACGC chr12:102819302-Reference-A;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative T aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg AGGAGGTACTAT CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAaggaggtactatAGATCGAGACCCGACGC chr12:102819302-Alternative-T;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Reference A aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg AACGACGTGCAT CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAaacgacgtgcatAGATCGAGACCCGACGC chr12:102819302-Reference-A;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative T aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CAGCACGACGAA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAcagcacgacgaaAGATCGAGACCCGACGC chr12:102819302-Alternative-T;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative T aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CGCTCACGATAC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaTtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAcgctcacgatacAGATCGAGACCCGACGC chr12:102819302-Alternative-T;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Reference A aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CAAGGTGGTATC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaAtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAcaaggtggtatcAGATCGAGACCCGACGC chr12:102819302-Reference-A;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Variant G aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg ATTACGCTGCGG CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAattacgctgcggAGATCGAGACCCGACGC chr12:102819302-Variant-G;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Variant G aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg AGAGTAACGTAC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAagagtaacgtacAGATCGAGACCCGACGC chr12:102819302-Variant-G;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative C aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg GTTCTAGGCACG CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAgttctaggcacgAGATCGAGACCCGACGC chr12:102819302-Alternative-C;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Variant G aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg GAGTTAATCGGT CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAgagttaatcggtAGATCGAGACCCGACGC chr12:102819302-Variant-G;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Variant G aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg GCGTGGACGAAT CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAgcgtggacgaatAGATCGAGACCCGACGC chr12:102819302-Variant-G;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Variant G aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg GCATTGTCGTAA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaGtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAgcattgtcgtaaAGATCGAGACCCGACGC chr12:102819302-Variant-G;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative C aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg ACGTGGTCCTGA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAacgtggtcctgaAGATCGAGACCCGACGC chr12:102819302-Alternative-C;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative C aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CATATGGATCGG CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAcatatggatcggAGATCGAGACCCGACGC chr12:102819302-Alternative-C;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative C aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CTGCGATCGTAC CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAActgcgatcgtacAGATCGAGACCCGACGC chr12:102819302-Alternative-C;Patient-68 chr12:102819302-AG Inherited Patient-68 intronic IGF1 3.2e-05 9.9e-05 0.41 8.54 0.6 IGF1 55075 Alternative C aaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatgggg CATGCGTAGATA CGACGCGGTCTCTCTCTaaatccccataacccaaaagaccaaagtcttccgttacccaatcaagtcaCtgtttttgtttctctgagtctaaaaggaatgaagcagagttctatggggAGAGGGAGACGGACGTCTCAATAAcatgcgtagataAGATCGAGACCCGACGC chr12:102819302-Alternative-C;Patient-68 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Variant T atattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggagggggg GTACTTGTACGA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAgtacttgtacgaAGATCGAGACCCGACGC chr12:102842286-Variant-T;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative A atattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggagggggg GAGAGCGTATGC CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAgagagcgtatgcAGATCGAGACCCGACGC chr12:102842286-Alternative-A;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative C atattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggagggggg CGACGAGCGATA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcgacgagcgataAGATCGAGACCCGACGC chr12:102842286-Alternative-C;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Reference G atattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggagggggg GATTACTGTGCA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAgattactgtgcaAGATCGAGACCCGACGC chr12:102842286-Reference-G;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Variant T atattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggagggggg GGTGACCGTAGA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAggtgaccgtagaAGATCGAGACCCGACGC chr12:102842286-Variant-T;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative A atattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggagggggg CGAGGTAGTAAG CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcgaggtagtaagAGATCGAGACCCGACGC chr12:102842286-Alternative-A;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Reference G atattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggagggggg CTTAGGATGCGC CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAActtaggatgcgcAGATCGAGACCCGACGC chr12:102842286-Reference-G;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Reference G atattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggagggggg CTCGTGTAGTGG CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAActcgtgtagtggAGATCGAGACCCGACGC chr12:102842286-Reference-G;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Variant T atattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggagggggg GCAACGTTGTGC CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAgcaacgttgtgcAGATCGAGACCCGACGC chr12:102842286-Variant-T;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative A atattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggagggggg ACTCCGGTCTGA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAactccggtctgaAGATCGAGACCCGACGC chr12:102842286-Alternative-A;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative A atattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggagggggg ATTCGTAACACG CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAattcgtaacacgAGATCGAGACCCGACGC chr12:102842286-Alternative-A;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative C atattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggagggggg AGATATCCGGTT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAagatatccggttAGATCGAGACCCGACGC chr12:102842286-Alternative-C;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative C atattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggagggggg ACGCGTGAACGT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAacgcgtgaacgtAGATCGAGACCCGACGC chr12:102842286-Alternative-C;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative C atattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggagggggg ACGCGTGAATAA CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAacgcgtgaataaAGATCGAGACCCGACGC chr12:102842286-Alternative-C;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Variant T atattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggagggggg CGACTACTAACT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcgactactaactAGATCGAGACCCGACGC chr12:102842286-Variant-T;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Variant T atattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggagggggg CAGTAGTGACTT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagTaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcagtagtgacttAGATCGAGACCCGACGC chr12:102842286-Variant-T;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Reference G atattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggagggggg CGAGTCAACACT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcgagtcaacactAGATCGAGACCCGACGC chr12:102842286-Reference-G;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative A atattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggagggggg CGACTAAGCCGT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagAaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAcgactaagccgtAGATCGAGACCCGACGC chr12:102842286-Alternative-A;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Reference G atattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggagggggg AGGAGGAAGTAT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagGaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAaggaggaagtatAGATCGAGACCCGACGC chr12:102842286-Reference-G;Patient-17 chr12:102842286-GT Inherited Patient-17 intronic IGF1 4.1e-05 4.95e-05 -0.13 1.16 0 IGF1 32091 Alternative C atattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggagggggg ACGCGCTTGCAT CGACGCGGTCTCTCTCTatattctgactcataggtgggaattgaacaatgagatcacatggacacagCaaggggaatatcacactctggggactgtggtggggtggggggaggggggAGAGGGAGACGGACGTCTCAATAAacgcgcttgcatAGATCGAGACCCGACGC chr12:102842286-Alternative-C;Patient-17 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative G aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GTGGCATCCGTT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgtggcatccgttAGATCGAGACCCGACGC chr12:102845153-Alternative-G;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative G aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GGCGAATGGCTT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAggcgaatggcttAGATCGAGACCCGACGC chr12:102845153-Alternative-G;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative G aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa ATTCGTCCAAGA CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAattcgtccaagaAGATCGAGACCCGACGC chr12:102845153-Alternative-G;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative G aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GTATTCATGCAG CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgtattcatgcagAGATCGAGACCCGACGC chr12:102845153-Alternative-G;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative G aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa AGGACGGCAATC CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaGgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAaggacggcaatcAGATCGAGACCCGACGC chr12:102845153-Alternative-G;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Variant T aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GTAGTCGATACT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgtagtcgatactAGATCGAGACCCGACGC chr12:102845153-Variant-T;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Variant T aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GCCGACGTTAGT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgccgacgttagtAGATCGAGACCCGACGC chr12:102845153-Variant-T;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Variant T aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa ATTACGTCGGAT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAattacgtcggatAGATCGAGACCCGACGC chr12:102845153-Variant-T;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Variant T aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa AACGAACGCTGT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAaacgaacgctgtAGATCGAGACCCGACGC chr12:102845153-Variant-T;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative A aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa AGTTAGGAGACA CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAagttaggagacaAGATCGAGACCCGACGC chr12:102845153-Alternative-A;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative A aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GCGAAGCACCAT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgcgaagcaccatAGATCGAGACCCGACGC chr12:102845153-Alternative-A;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Variant T aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa ATCCGAACGTCA CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaTgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAatccgaacgtcaAGATCGAGACCCGACGC chr12:102845153-Variant-T;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative A aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa AGTCGTCGATAT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAagtcgtcgatatAGATCGAGACCCGACGC chr12:102845153-Alternative-A;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Reference C aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GTTCGCTCCTTC CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgttcgctccttcAGATCGAGACCCGACGC chr12:102845153-Reference-C;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative A aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa AGACCTACGCGA CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAagacctacgcgaAGATCGAGACCCGACGC chr12:102845153-Alternative-A;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Reference C aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GAGCACTGTATC CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgagcactgtatcAGATCGAGACCCGACGC chr12:102845153-Reference-C;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Reference C aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GCGCTACATGCT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgcgctacatgctAGATCGAGACCCGACGC chr12:102845153-Reference-C;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Alternative A aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GTTGACACCGAT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaAgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgttgacaccgatAGATCGAGACCCGACGC chr12:102845153-Alternative-A;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Reference C aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa ACACGGTTAACT CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAacacggttaactAGATCGAGACCCGACGC chr12:102845153-Reference-C;Patient-75 chr12:102845153-CT DeNovo Patient-75 intronic IGF1 6.4e-05 4.95e-05 0.1 4.33 -0.59 IGF1 29224 Reference C aatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaa GCCACTAGTATA CGACGCGGTCTCTCTCTaatgtgagaattactgagcgcattttattgctctctatttcatttgtttaCgcagagtaagtaatgaacttccaggaagccagaacttctagaagctcaaAGAGGGAGACGGACGTCTCAATAAgccactagtataAGATCGAGACCCGACGC chr12:102845153-Reference-C;Patient-75 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Variant A ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CGTCTAGGCAGT CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcgtctaggcagtAGATCGAGACCCGACGC chr12:102880727-Variant-A;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Variant A ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GCGATGGCACTT CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgcgatggcacttAGATCGAGACCCGACGC chr12:102880727-Variant-A;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Variant A ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa ACCTGGTTGTAA CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAacctggttgtaaAGATCGAGACCCGACGC chr12:102880727-Variant-A;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative C ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa AGGTTGATGTTC CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAaggttgatgttcAGATCGAGACCCGACGC chr12:102880727-Alternative-C;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative C ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CACAATACGCTA CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcacaatacgctaAGATCGAGACCCGACGC chr12:102880727-Alternative-C;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative C ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa AATCTCAAGCGT CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAaatctcaagcgtAGATCGAGACCCGACGC chr12:102880727-Alternative-C;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative C ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GGAGACACATCG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAggagacacatcgAGATCGAGACCCGACGC chr12:102880727-Alternative-C;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative C ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GATCCTGGTACG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcCggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgatcctggtacgAGATCGAGACCCGACGC chr12:102880727-Alternative-C;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative T ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GTTCGAGCGATA CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgttcgagcgataAGATCGAGACCCGACGC chr12:102880727-Alternative-T;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Variant A ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GAATGAAGCGGC CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgaatgaagcggcAGATCGAGACCCGACGC chr12:102880727-Variant-A;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative T ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CTCAACACGATA CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAActcaacacgataAGATCGAGACCCGACGC chr12:102880727-Alternative-T;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative T ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GTAACCACATGG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgtaaccacatggAGATCGAGACCCGACGC chr12:102880727-Alternative-T;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative T ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CGACACTATTGA CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcgacactattgaAGATCGAGACCCGACGC chr12:102880727-Alternative-T;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Variant A ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CTTGCGCCAAGT CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcAggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAActtgcgccaagtAGATCGAGACCCGACGC chr12:102880727-Variant-A;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Reference G ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CGTAGAACGACC CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcgtagaacgaccAGATCGAGACCCGACGC chr12:102880727-Reference-G;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Alternative T ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CGATCGTCTTCG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcTggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcgatcgtcttcgAGATCGAGACCCGACGC chr12:102880727-Alternative-T;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Reference G ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CTCTTAGATCGT CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAActcttagatcgtAGATCGAGACCCGACGC chr12:102880727-Reference-G;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Reference G ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CTACGCAGAATC CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAActacgcagaatcAGATCGAGACCCGACGC chr12:102880727-Reference-G;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Reference G ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa GACGAGTATCGG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAgacgagtatcggAGATCGAGACCCGACGC chr12:102880727-Reference-G;Patient-71 chr12:102880727-GA DeNovo Patient-71 intergenic 3.2e-05 0.00103 -0.39 0.19 -0.32 IGF1 6348 Reference G ctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaa CGTGTACAGTCG CGACGCGGTCTCTCTCTctgtaatcccagtgctttgggaggcagaagcgggcggatcacctgaggtcGggagttcaagaccagcctgaccaacatggtgaaaccccatctctactaaAGAGGGAGACGGACGTCTCAATAAcgtgtacagtcgAGATCGAGACCCGACGC chr12:102880727-Reference-G;Patient-71 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative C cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GGTGATCGATAC CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAggtgatcgatacAGATCGAGACCCGACGC chr12:104769979-Alternative-C;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Reference T cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GCCACTCCGTAA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgccactccgtaaAGATCGAGACCCGACGC chr12:104769979-Reference-T;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative C cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag ACCTTCCAATCA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAaccttccaatcaAGATCGAGACCCGACGC chr12:104769979-Alternative-C;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative C cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GAGTCAATGCTT CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgagtcaatgcttAGATCGAGACCCGACGC chr12:104769979-Alternative-C;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative A cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GCGTGTAGAATT CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgcgtgtagaattAGATCGAGACCCGACGC chr12:104769979-Alternative-A;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Reference T cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GAGCAGGATCAA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgagcaggatcaaAGATCGAGACCCGACGC chr12:104769979-Reference-T;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Variant G cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GTTACTCGTCAT CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgttactcgtcatAGATCGAGACCCGACGC chr12:104769979-Variant-G;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Variant G cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GAGTGTTATTCG CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgagtgttattcgAGATCGAGACCCGACGC chr12:104769979-Variant-G;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative C cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GACGCCAATATA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgacgccaatataAGATCGAGACCCGACGC chr12:104769979-Alternative-C;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Reference T cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag ACGAAGTCGACG CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAacgaagtcgacgAGATCGAGACCCGACGC chr12:104769979-Reference-T;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative C cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GCATGAGAAGTT CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaCgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAgcatgagaagttAGATCGAGACCCGACGC chr12:104769979-Alternative-C;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Variant G cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GGTTACGGATGG CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAggttacggatggAGATCGAGACCCGACGC chr12:104769979-Variant-G;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Variant G cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag GGTCATTGAGTT CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAggtcattgagttAGATCGAGACCCGACGC chr12:104769979-Variant-G;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Reference T cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag AGCGTCTGTTCG CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAagcgtctgttcgAGATCGAGACCCGACGC chr12:104769979-Reference-T;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Reference T cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag AAGGTGTTACGA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaTgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAaaggtgttacgaAGATCGAGACCCGACGC chr12:104769979-Reference-T;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative A cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag CACATAACAAGG CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAcacataacaaggAGATCGAGACCCGACGC chr12:104769979-Alternative-A;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Variant G cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag AGCTCCGAATTA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaGgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAagctccgaattaAGATCGAGACCCGACGC chr12:104769979-Variant-G;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative A cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag CAGTACACGCGA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAcagtacacgcgaAGATCGAGACCCGACGC chr12:104769979-Alternative-A;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative A cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag ACCGTGAGGCTA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAaccgtgaggctaAGATCGAGACCCGACGC chr12:104769979-Alternative-A;Patient-109 chr12:104769979-TG DeNovo Patient-109 intergenic NA 3.84e-05 0.04 3.19 0.39 EID3 72468 Alternative A cctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaag ATTGACGGTTCA CGACGCGGTCTCTCTCTcctcatagaaaatctttctgtaaggcaataactatcagcagtggttagcaAgcacccgctctttgactcagcaattcctcttctaggaatttttcctaagAGAGGGAGACGGACGTCTCAATAAattgacggttcaAGATCGAGACCCGACGC chr12:104769979-Alternative-A;Patient-109 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Variant A ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg ATCCTGGACAAG CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAatcctggacaagAGATCGAGACCCGACGC chr12:105699398-Variant-A;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative C ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg AGTTAGGCGCGT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAagttaggcgcgtAGATCGAGACCCGACGC chr12:105699398-Alternative-C;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative C ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GTCGTATGTTGT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgtcgtatgttgtAGATCGAGACCCGACGC chr12:105699398-Alternative-C;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative C ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GCGATCGTGTGA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgcgatcgtgtgaAGATCGAGACCCGACGC chr12:105699398-Alternative-C;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative C ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GTCTCTGTAACA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgtctctgtaacaAGATCGAGACCCGACGC chr12:105699398-Alternative-C;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative C ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg AGCTACGAGCTA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaCggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAagctacgagctaAGATCGAGACCCGACGC chr12:105699398-Alternative-C;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Variant A ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg AGCTCGACGGTT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAagctcgacggttAGATCGAGACCCGACGC chr12:105699398-Variant-A;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Variant A ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg CTACGACACGAG CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAActacgacacgagAGATCGAGACCCGACGC chr12:105699398-Variant-A;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Variant A ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg CGGAAGGATAAT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAcggaaggataatAGATCGAGACCCGACGC chr12:105699398-Variant-A;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Variant A ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg ATCGCATCAAGA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaAggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAatcgcatcaagaAGATCGAGACCCGACGC chr12:105699398-Variant-A;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative T ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg CGATACCATCGA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAcgataccatcgaAGATCGAGACCCGACGC chr12:105699398-Alternative-T;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative T ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GGTTGAACGGAC CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAggttgaacggacAGATCGAGACCCGACGC chr12:105699398-Alternative-T;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative T ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg AGGCCGTCAGAT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAaggccgtcagatAGATCGAGACCCGACGC chr12:105699398-Alternative-T;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Reference G ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg AAGGCGATACTA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAaaggcgatactaAGATCGAGACCCGACGC chr12:105699398-Reference-G;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Reference G ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GCCTTATTCGCA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgccttattcgcaAGATCGAGACCCGACGC chr12:105699398-Reference-G;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Reference G ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GTACCTTCGGCA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgtaccttcggcaAGATCGAGACCCGACGC chr12:105699398-Reference-G;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative T ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GTTACGTCGCAG CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgttacgtcgcagAGATCGAGACCCGACGC chr12:105699398-Alternative-T;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Reference G ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg ATAATGCGACAC CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAataatgcgacacAGATCGAGACCCGACGC chr12:105699398-Reference-G;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Alternative T ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg GCAGTCGCGTAT CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaTggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAAgcagtcgcgtatAGATCGAGACCCGACGC chr12:105699398-Alternative-T;Patient-66 chr12:105699398-GA DeNovo Patient-66 intergenic 3.2e-05 0.000513 -0.19 0.77 0 APPL2 69389 Reference G ttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttagg CTTATCTCGTGA CGACGCGGTCTCTCTCTttgtaaaaacattctcagcaccttaaattggtttaaatttagttgttttaGggagaatccaattagttaatttcaaaaactgaaacagcttaattttaggAGAGGGAGACGGACGTCTCAATAActtatctcgtgaAGATCGAGACCCGACGC chr12:105699398-Reference-G;Patient-66 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Reference G tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtag AAGTCATTCGCA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAaagtcattcgcaAGATCGAGACCCGACGC chr12:106766551-Reference-G;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Reference G tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtag ATAGATAGCGGT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAatagatagcggtAGATCGAGACCCGACGC chr12:106766551-Reference-G;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative T tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtag GTACAGATATGG CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgtacagatatggAGATCGAGACCCGACGC chr12:106766551-Alternative-T;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Reference G tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtag CTCTAACGCTTA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAActctaacgcttaAGATCGAGACCCGACGC chr12:106766551-Reference-G;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Reference G tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtag GTCAATGGTTCT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgtcaatggttctAGATCGAGACCCGACGC chr12:106766551-Reference-G;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Reference G tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtag GCGCCAGTTAAG CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcGtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgcgccagttaagAGATCGAGACCCGACGC chr12:106766551-Reference-G;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative T tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtag ACGCATCCGTGA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAacgcatccgtgaAGATCGAGACCCGACGC chr12:106766551-Alternative-T;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative T tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtag GGCTGAACGAAG CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAggctgaacgaagAGATCGAGACCCGACGC chr12:106766551-Alternative-T;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Variant A tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtag ATCTAGCTTGCT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAatctagcttgctAGATCGAGACCCGACGC chr12:106766551-Variant-A;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Variant A tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtag GCGAATAGCGTC CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgcgaatagcgtcAGATCGAGACCCGACGC chr12:106766551-Variant-A;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative T tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtag GTCAGTTAACGA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgtcagttaacgaAGATCGAGACCCGACGC chr12:106766551-Alternative-T;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative T tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtag AGACGTTCTCAA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcTtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAagacgttctcaaAGATCGAGACCCGACGC chr12:106766551-Alternative-T;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Variant A tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtag GCCAACCGATAT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgccaaccgatatAGATCGAGACCCGACGC chr12:106766551-Variant-A;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative C tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtag ATTACAACCGGT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAattacaaccggtAGATCGAGACCCGACGC chr12:106766551-Alternative-C;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative C tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtag GTACAGTGAACC CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgtacagtgaaccAGATCGAGACCCGACGC chr12:106766551-Alternative-C;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Variant A tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtag GTTGTGTTCTAC CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAgttgtgttctacAGATCGAGACCCGACGC chr12:106766551-Variant-A;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative C tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtag AACGCGATATAC CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAaacgcgatatacAGATCGAGACCCGACGC chr12:106766551-Alternative-C;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Variant A tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtag CGGAACGTGCTA CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcAtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAcggaacgtgctaAGATCGAGACCCGACGC chr12:106766551-Variant-A;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative C tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtag CTAGGCGTCACT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAActaggcgtcactAGATCGAGACCCGACGC chr12:106766551-Alternative-C;Patient-89 chr12:106766551-GA Inherited Patient-89 intronic POLR3B 6.4e-05 4.95e-05 -0.38 0.22 -1.73 POLR3B 15114 Alternative C tacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtag ACTAAGCGCTGT CGACGCGGTCTCTCTCTtacgggatgtggcttagcttacctgtgtcacccactttgcttctcccttcCtcttccaatttttccttcttgtttttaattatctttttggttactgtagAGAGGGAGACGGACGTCTCAATAAactaagcgctgtAGATCGAGACCCGACGC chr12:106766551-Alternative-C;Patient-89 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative C agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GCATCCAACGAT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgcatccaacgatAGATCGAGACCCGACGC chr12:107508408-Alternative-C;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative C agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt ATCCGCTGACAG CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAatccgctgacagAGATCGAGACCCGACGC chr12:107508408-Alternative-C;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative T agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GATCGCTGACGT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgatcgctgacgtAGATCGAGACCCGACGC chr12:107508408-Alternative-T;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Reference G agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt AACCGAGTATCG CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAaaccgagtatcgAGATCGAGACCCGACGC chr12:107508408-Reference-G;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Reference G agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt CACATACGAACC CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAcacatacgaaccAGATCGAGACCCGACGC chr12:107508408-Reference-G;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative C agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GACCGTCTAACG CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgaccgtctaacgAGATCGAGACCCGACGC chr12:107508408-Alternative-C;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative C agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GACGGAGTACAC CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgacggagtacacAGATCGAGACCCGACGC chr12:107508408-Alternative-C;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Reference G agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GATATCTGTCCT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgatatctgtcctAGATCGAGACCCGACGC chr12:107508408-Reference-G;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative T agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt CGTGACTCGTGA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAcgtgactcgtgaAGATCGAGACCCGACGC chr12:107508408-Alternative-T;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative C agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt CGGAACACCAAC CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaCtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAcggaacaccaacAGATCGAGACCCGACGC chr12:107508408-Alternative-C;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Variant A agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GTATCGCGTCGA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgtatcgcgtcgaAGATCGAGACCCGACGC chr12:107508408-Variant-A;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Reference G agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt ACTATAGCGCTA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAactatagcgctaAGATCGAGACCCGACGC chr12:107508408-Reference-G;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Reference G agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GCACGAATGCCA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaGtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgcacgaatgccaAGATCGAGACCCGACGC chr12:107508408-Reference-G;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Variant A agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GCACGTAACAGG CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgcacgtaacaggAGATCGAGACCCGACGC chr12:107508408-Variant-A;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Variant A agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt AGGTTAGAGTGT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAaggttagagtgtAGATCGAGACCCGACGC chr12:107508408-Variant-A;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative T agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt AAGTCTCGACAT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAaagtctcgacatAGATCGAGACCCGACGC chr12:107508408-Alternative-T;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative T agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt AATGGCGAACCT CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAaatggcgaacctAGATCGAGACCCGACGC chr12:107508408-Alternative-T;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Variant A agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt ACTCATCGCAGA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAactcatcgcagaAGATCGAGACCCGACGC chr12:107508408-Variant-A;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Alternative T agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GCATAGTTGCGA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaTtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgcatagttgcgaAGATCGAGACCCGACGC chr12:107508408-Alternative-T;Patient-41 chr12:107508408-GA DeNovo Patient-41 intergenic NA 0.000513 0.04 3.18 1.04 CRY1 20772 Variant A agtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcacctt GCGAACCTATTA CGACGCGGTCTCTCTCTagtaggttgagattgggccgggacaagggaagaggcttgggaggtggtcaAtgaagtcttatttcatgccctgggtagtaggtacataggtgttcaccttAGAGGGAGACGGACGTCTCAATAAgcgaacctattaAGATCGAGACCCGACGC chr12:107508408-Variant-A;Patient-41 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative T tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca CACTGTACTTGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAcactgtacttgtAGATCGAGACCCGACGC chr12:108055310-Alternative-T;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative T tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca AAGGTTGTACGA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAaaggttgtacgaAGATCGAGACCCGACGC chr12:108055310-Alternative-T;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Reference G tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca AGCGGAACAGCA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAagcggaacagcaAGATCGAGACCCGACGC chr12:108055310-Reference-G;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative T tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GTGACATGTTCA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgtgacatgttcaAGATCGAGACCCGACGC chr12:108055310-Alternative-T;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative T tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca AAGGCGCCTAGA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAaaggcgcctagaAGATCGAGACCCGACGC chr12:108055310-Alternative-T;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Reference G tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca ATTCTAGGCAGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAattctaggcagtAGATCGAGACCCGACGC chr12:108055310-Reference-G;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Reference G tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GTCGAAGCCAGA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgtcgaagccagaAGATCGAGACCCGACGC chr12:108055310-Reference-G;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative T tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca ATCCTGACGGAC CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccTctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAatcctgacggacAGATCGAGACCCGACGC chr12:108055310-Alternative-T;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Variant A tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GCGCTATTCCGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgcgctattccgtAGATCGAGACCCGACGC chr12:108055310-Variant-A;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Variant A tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca ATCGTCTAAGGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAatcgtctaaggtAGATCGAGACCCGACGC chr12:108055310-Variant-A;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Reference G tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GTACGTGTTGAT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgtacgtgttgatAGATCGAGACCCGACGC chr12:108055310-Reference-G;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Reference G tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca CACACATATACG CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccGctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAcacacatatacgAGATCGAGACCCGACGC chr12:108055310-Reference-G;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Variant A tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca CGTGCACCGTAA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAcgtgcaccgtaaAGATCGAGACCCGACGC chr12:108055310-Variant-A;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Variant A tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GTTCAATTCCGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgttcaattccgtAGATCGAGACCCGACGC chr12:108055310-Variant-A;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Variant A tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca ACAACGACGAAT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccActgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAacaacgacgaatAGATCGAGACCCGACGC chr12:108055310-Variant-A;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative C tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca CGCATCACAAGG CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAcgcatcacaaggAGATCGAGACCCGACGC chr12:108055310-Alternative-C;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative C tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca ATATGGCTTGCA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAatatggcttgcaAGATCGAGACCCGACGC chr12:108055310-Alternative-C;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative C tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GGTGTAAGCCTT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAggtgtaagccttAGATCGAGACCCGACGC chr12:108055310-Alternative-C;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative C tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca AAGCACGGATGA CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAaagcacggatgaAGATCGAGACCCGACGC chr12:108055310-Alternative-C;Patient-91 chr12:108055310-GA Inherited Patient-91 intergenic 0.000354 0.001538462 -0.1 1.44 0.2 PWP1 24279 Alternative C tcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggca GATCGTGTCGGT CGACGCGGTCTCTCTCTtcctctttcaaaaaaaaaaaaatgggtttaactataactagtggccggccCctgtggctcacgcctgtaatctcaacactttgggaggccaaggtgggcaAGAGGGAGACGGACGTCTCAATAAgatcgtgtcggtAGATCGAGACCCGACGC chr12:108055310-Alternative-C;Patient-91 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative T acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GGTACTACAACG CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAggtactacaacgAGATCGAGACCCGACGC chr12:108676979-Alternative-T;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative T acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt AACGTAACGTTC CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAaacgtaacgttcAGATCGAGACCCGACGC chr12:108676979-Alternative-T;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Reference G acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt ATCATAGCTCGA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAatcatagctcgaAGATCGAGACCCGACGC chr12:108676979-Reference-G;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative T acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt ACGTTGGCTCGA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAacgttggctcgaAGATCGAGACCCGACGC chr12:108676979-Alternative-T;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative C acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GCGGAGACAACA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAgcggagacaacaAGATCGAGACCCGACGC chr12:108676979-Alternative-C;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative C acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt CTATAGCCTTGA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAActatagccttgaAGATCGAGACCCGACGC chr12:108676979-Alternative-C;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative C acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt CGTCGTAACTAA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAcgtcgtaactaaAGATCGAGACCCGACGC chr12:108676979-Alternative-C;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Reference G acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt AAGGTTGCCTTA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAaaggttgccttaAGATCGAGACCCGACGC chr12:108676979-Reference-G;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Reference G acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GTTACTCGCCTA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAgttactcgcctaAGATCGAGACCCGACGC chr12:108676979-Reference-G;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Reference G acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GGTCTTGTGCGA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAggtcttgtgcgaAGATCGAGACCCGACGC chr12:108676979-Reference-G;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative T acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt CGATATCCGGCA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAcgatatccggcaAGATCGAGACCCGACGC chr12:108676979-Alternative-T;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative C acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GATATGCTTGGT CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAgatatgcttggtAGATCGAGACCCGACGC chr12:108676979-Alternative-C;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Reference G acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GGTAAGCGTGCT CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaGtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAggtaagcgtgctAGATCGAGACCCGACGC chr12:108676979-Reference-G;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative C acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt ACCGGCAGAGAT CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaCtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAaccggcagagatAGATCGAGACCCGACGC chr12:108676979-Alternative-C;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Variant A acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt CATGCTAACGAT CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAcatgctaacgatAGATCGAGACCCGACGC chr12:108676979-Variant-A;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Variant A acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GACGCGTATCGA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAgacgcgtatcgaAGATCGAGACCCGACGC chr12:108676979-Variant-A;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Variant A acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt GAGATGGTATCA CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAgagatggtatcaAGATCGAGACCCGACGC chr12:108676979-Variant-A;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Variant A acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt AGCTACCGATGG CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAagctaccgatggAGATCGAGACCCGACGC chr12:108676979-Variant-A;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Alternative T acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt ACAGCGACCGAT CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaTtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAacagcgaccgatAGATCGAGACCCGACGC chr12:108676979-Alternative-T;Patient-58 chr12:108676979-GA DeNovo Patient-58 intergenic 6.4e-05 0.001025641 -0.13 1.13 0.04 CMKLR1 56114 Variant A acgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgt AACGCTGTGTCG CGACGCGGTCTCTCTCTacgacctacgcctcccaagttcaagcgactcttgtgtctcagcctcccgaAtagctgggattacaggcgtgtgccaccatgctcagctaaatttttttgtAGAGGGAGACGGACGTCTCAATAAaacgctgtgtcgAGATCGAGACCCGACGC chr12:108676979-Variant-A;Patient-58 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Variant G gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagt GATGAATGGACG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgatgaatggacgAGATCGAGACCCGACGC chr12:109984776-Variant-G;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Variant G gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagt AAGATAGGCCTA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAaagataggcctaAGATCGAGACCCGACGC chr12:109984776-Variant-G;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Variant G gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagt ATAAGATGCGGT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAataagatgcggtAGATCGAGACCCGACGC chr12:109984776-Variant-G;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Variant G gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagt ATCGGTAGGCCA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAatcggtaggccaAGATCGAGACCCGACGC chr12:109984776-Variant-G;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative T gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagt ACCACAACGAGT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAaccacaacgagtAGATCGAGACCCGACGC chr12:109984776-Alternative-T;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative T gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagt GCGAATGTGTGG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgcgaatgtgtggAGATCGAGACCCGACGC chr12:109984776-Alternative-T;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Variant G gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagt GTGTCACCACAG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaGactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgtgtcaccacagAGATCGAGACCCGACGC chr12:109984776-Variant-G;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Reference A gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagt CTTGCCTATACT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAActtgcctatactAGATCGAGACCCGACGC chr12:109984776-Reference-A;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative T gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagt GTGTTAGCGCGA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgtgttagcgcgaAGATCGAGACCCGACGC chr12:109984776-Alternative-T;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative C gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagt GGAGTCGTACAG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAggagtcgtacagAGATCGAGACCCGACGC chr12:109984776-Alternative-C;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative T gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagt GCACCAAGATCG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgcaccaagatcgAGATCGAGACCCGACGC chr12:109984776-Alternative-T;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Reference A gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagt GTGTTGGTCAAT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgtgttggtcaatAGATCGAGACCCGACGC chr12:109984776-Reference-A;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Reference A gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagt GCGATTACACCT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgcgattacacctAGATCGAGACCCGACGC chr12:109984776-Reference-A;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative T gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagt CGTCGTGATCCT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaTactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAcgtcgtgatcctAGATCGAGACCCGACGC chr12:109984776-Alternative-T;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative C gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagt GAGGTGGTATGC CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAgaggtggtatgcAGATCGAGACCCGACGC chr12:109984776-Alternative-C;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Reference A gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagt GGAACGGTGGAA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAggaacggtggaaAGATCGAGACCCGACGC chr12:109984776-Reference-A;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative C gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagt ACACGTGTAGAA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAacacgtgtagaaAGATCGAGACCCGACGC chr12:109984776-Alternative-C;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative C gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagt AGAATGTAAGCG CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAagaatgtaagcgAGATCGAGACCCGACGC chr12:109984776-Alternative-C;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Alternative C gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagt ATAGGACGTGCT CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaCactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAataggacgtgctAGATCGAGACCCGACGC chr12:109984776-Alternative-C;Patient-66 chr12:109984776-AG DeNovo Patient-66 intergenic NA 0.000512821 0.01 2.74 0.47 MMAB 26581 Reference A gctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagt CAGACGGCTGAA CGACGCGGTCTCTCTCTgctggtgttgaactcctgggctcaagcgatcctcctgcctcagcctcccaAactgctgggattacaggtgtgagacaccacacccagccggattcagagtAGAGGGAGACGGACGTCTCAATAAcagacggctgaaAGATCGAGACCCGACGC chr12:109984776-Reference-A;Patient-66 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Variant G actggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GTGTTAGACTGA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgtgttagactgaAGATCGAGACCCGACGC chr12:110860379-Variant-G;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Variant G actggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GGTAACGAGCAA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAggtaacgagcaaAGATCGAGACCCGACGC chr12:110860379-Variant-G;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Variant G actggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata CTGTCCGACGTT CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAActgtccgacgttAGATCGAGACCCGACGC chr12:110860379-Variant-G;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Reference A actggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata CTCGGAGACATA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAActcggagacataAGATCGAGACCCGACGC chr12:110860379-Reference-A;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Reference A actggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GGCGCTATCAAG CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAggcgctatcaagAGATCGAGACCCGACGC chr12:110860379-Reference-A;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative T actggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata ACGCGACTTACG CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAacgcgacttacgAGATCGAGACCCGACGC chr12:110860379-Alternative-T;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Variant G actggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GCGACGTCTAAC CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgcgacgtctaacAGATCGAGACCCGACGC chr12:110860379-Variant-G;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Variant G actggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GACGGAATGTAA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcGgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgacggaatgtaaAGATCGAGACCCGACGC chr12:110860379-Variant-G;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Reference A actggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GGAATATCGGCG CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAggaatatcggcgAGATCGAGACCCGACGC chr12:110860379-Reference-A;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative C actggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata ACCTGGATAGTT CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAacctggatagttAGATCGAGACCCGACGC chr12:110860379-Alternative-C;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative T actggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata AGCTGTGCACAC CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAagctgtgcacacAGATCGAGACCCGACGC chr12:110860379-Alternative-T;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative T actggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata CGTAGGTGACGA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAcgtaggtgacgaAGATCGAGACCCGACGC chr12:110860379-Alternative-T;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Reference A actggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GGTGACGGCATA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAggtgacggcataAGATCGAGACCCGACGC chr12:110860379-Reference-A;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative C actggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata AGGCGCAGAATC CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAaggcgcagaatcAGATCGAGACCCGACGC chr12:110860379-Alternative-C;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative C actggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata ATCCGTAGCTTA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAatccgtagcttaAGATCGAGACCCGACGC chr12:110860379-Alternative-C;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative T actggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GTACGGATGCGA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgtacggatgcgaAGATCGAGACCCGACGC chr12:110860379-Alternative-T;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Reference A actggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata CGCATCTTGTTA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcAgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAcgcatcttgttaAGATCGAGACCCGACGC chr12:110860379-Reference-A;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative T actggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GACCTAACAAGT CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcTgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgacctaacaagtAGATCGAGACCCGACGC chr12:110860379-Alternative-T;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative C actggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata GCCGGTTGCTAA CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAgccggttgctaaAGATCGAGACCCGACGC chr12:110860379-Alternative-C;Patient-98 chr12:110860379-AG DeNovo Patient-98 intergenic 0.000637 0.000513 0.12 4.63 0.77 ANAPC7 18843 Alternative C actggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagata ATTACTAACGGC CGACGCGGTCTCTCTCTactggagggaataaataccaccagcatcccaaccaattttccctcttttcCgtaaagaaggttctaagatgtccagatggtcatttttatttatgagataAGAGGGAGACGGACGTCTCAATAAattactaacggcAGATCGAGACCCGACGC chr12:110860379-Alternative-C;Patient-98 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Reference C catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CGTCAAGATTCA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcgtcaagattcaAGATCGAGACCCGACGC chr12:111056429-Reference-C;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Reference C catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CGCTTCTTATGT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcgcttcttatgtAGATCGAGACCCGACGC chr12:111056429-Reference-C;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative G catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CATGCTGACGGT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcatgctgacggtAGATCGAGACCCGACGC chr12:111056429-Alternative-G;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Reference C catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CACATAACGAAG CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcacataacgaagAGATCGAGACCCGACGC chr12:111056429-Reference-C;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Variant T catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa ATAACGTGGACA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAataacgtggacaAGATCGAGACCCGACGC chr12:111056429-Variant-T;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative A catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa AGACCATCGAGA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAagaccatcgagaAGATCGAGACCCGACGC chr12:111056429-Alternative-A;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative G catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CATCGTTCTCAA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcatcgttctcaaAGATCGAGACCCGACGC chr12:111056429-Alternative-G;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative G catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CACATTGACCGA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAcacattgaccgaAGATCGAGACCCGACGC chr12:111056429-Alternative-G;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Variant T catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa GTACTAGAACGA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAgtactagaacgaAGATCGAGACCCGACGC chr12:111056429-Variant-T;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Variant T catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa ATCTGTCTAAGG CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAatctgtctaaggAGATCGAGACCCGACGC chr12:111056429-Variant-T;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Variant T catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa GTTCACTGTACT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAgttcactgtactAGATCGAGACCCGACGC chr12:111056429-Variant-T;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative A catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa ACGTCGTATTCT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAacgtcgtattctAGATCGAGACCCGACGC chr12:111056429-Alternative-A;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Reference C catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CTGGTAGTAGAA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAActggtagtagaaAGATCGAGACCCGACGC chr12:111056429-Reference-C;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Variant T catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CTATCTGCATCA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcTtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAActatctgcatcaAGATCGAGACCCGACGC chr12:111056429-Variant-T;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Reference C catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa AGACCTCCGGAA CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcCtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAagacctccggaaAGATCGAGACCCGACGC chr12:111056429-Reference-C;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative A catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CTATCGAAGCAT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAActatcgaagcatAGATCGAGACCCGACGC chr12:111056429-Alternative-A;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative G catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa ACTTCGTGCGAG CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAacttcgtgcgagAGATCGAGACCCGACGC chr12:111056429-Alternative-G;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative G catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa GGTGACGTTATT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcGtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAggtgacgttattAGATCGAGACCCGACGC chr12:111056429-Alternative-G;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative A catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa GAGTACGTAGAT CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAAgagtacgtagatAGATCGAGACCCGACGC chr12:111056429-Alternative-A;Patient-92 chr12:111056429-CT DeNovo Patient-92 intronic TCTN1 0.000414 0.000148 -0.09 1.54 0.23 TCTN1 4596 Alternative A catgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaa CTAGTAGGTAAC CGACGCGGTCTCTCTCTcatgttggccagggcagtctcaaactcctgacctcaagtgatctgcccgcAtcccaaagtgcaggaattacagatgtgagccaccgtgcctggtttgaaaAGAGGGAGACGGACGTCTCAATAActagtaggtaacAGATCGAGACCCGACGC chr12:111056429-Alternative-A;Patient-92 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative T catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt ATAACAGCATCG CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAataacagcatcgAGATCGAGACCCGACGC chr12:111200412-Alternative-T;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative T catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt AGCTATACCTGA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAagctatacctgaAGATCGAGACCCGACGC chr12:111200412-Alternative-T;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Variant A catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CAGCGCATGAGA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcagcgcatgagaAGATCGAGACCCGACGC chr12:111200412-Variant-A;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Reference G catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt ATATGGACGCTT CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAatatggacgcttAGATCGAGACCCGACGC chr12:111200412-Reference-G;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Variant A catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CAGTACCACTGA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcagtaccactgaAGATCGAGACCCGACGC chr12:111200412-Variant-A;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Variant A catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CATGACGGCAAT CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcatgacggcaatAGATCGAGACCCGACGC chr12:111200412-Variant-A;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Reference G catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CTATGCGGATAA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAActatgcggataaAGATCGAGACCCGACGC chr12:111200412-Reference-G;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative C catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GTCGTACGCCTT CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAgtcgtacgccttAGATCGAGACCCGACGC chr12:111200412-Alternative-C;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative T catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GATCCTCGGTTC CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAgatcctcggttcAGATCGAGACCCGACGC chr12:111200412-Alternative-T;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative C catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CGACGGAAGTTA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcgacggaagttaAGATCGAGACCCGACGC chr12:111200412-Alternative-C;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative C catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GCGTTCATAGAT CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAgcgttcatagatAGATCGAGACCCGACGC chr12:111200412-Alternative-C;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Variant A catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CTTGGTATTCAC CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAActtggtattcacAGATCGAGACCCGACGC chr12:111200412-Variant-A;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative T catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GAGCTGACTACC CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAgagctgactaccAGATCGAGACCCGACGC chr12:111200412-Alternative-T;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative T catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GGACTTAGATGA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcTggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAggacttagatgaAGATCGAGACCCGACGC chr12:111200412-Alternative-T;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative C catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt ACCGACATCAGG CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAaccgacatcaggAGATCGAGACCCGACGC chr12:111200412-Alternative-C;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Variant A catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GTCCGAATCATA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcAggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAgtccgaatcataAGATCGAGACCCGACGC chr12:111200412-Variant-A;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Alternative C catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt ATCTGCCACCAC CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcCggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAatctgccaccacAGATCGAGACCCGACGC chr12:111200412-Alternative-C;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Reference G catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CGTTATGATGCA CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcgttatgatgcaAGATCGAGACCCGACGC chr12:111200412-Reference-G;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Reference G catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt GGTACACTTCTT CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAggtacacttcttAGATCGAGACCCGACGC chr12:111200412-Reference-G;Patient-26 chr12:111200412-GA DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.35 0.26 -1.58 PPP1CC 19628 Reference G catctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcactt CGTAAGCGGTAC CGACGCGGTCTCTCTCTcatctctattaaaaatactaaaaatagaaaaattagctgggtgtggtggcGggcacctgtaatcccagctacttgggaagctgaggcaagagaatcacttAGAGGGAGACGGACGTCTCAATAAcgtaagcggtacAGATCGAGACCCGACGC chr12:111200412-Reference-G;Patient-26 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Reference C ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GGCGAGTCAAGA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAggcgagtcaagaAGATCGAGACCCGACGC chr12:111222374-Reference-C;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Variant A ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GACCATCTGGCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgaccatctggcaAGATCGAGACCCGACGC chr12:111222374-Variant-A;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Reference C ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag ATCGGAGCGTCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAatcggagcgtcaAGATCGAGACCCGACGC chr12:111222374-Reference-C;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Variant A ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GCGAATATGCGC CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgcgaatatgcgcAGATCGAGACCCGACGC chr12:111222374-Variant-A;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Variant A ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GACCATATCGCG CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgaccatatcgcgAGATCGAGACCCGACGC chr12:111222374-Variant-A;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Variant A ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GTAGTACTAGCT CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgtagtactagctAGATCGAGACCCGACGC chr12:111222374-Variant-A;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Reference C ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GCGGCAGAGTTA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgcggcagagttaAGATCGAGACCCGACGC chr12:111222374-Reference-C;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative G ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CACATATACGCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAcacatatacgcaAGATCGAGACCCGACGC chr12:111222374-Alternative-G;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Reference C ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag AAGGTGAGTAGA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAaaggtgagtagaAGATCGAGACCCGACGC chr12:111222374-Reference-C;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Variant A ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CGTCTATTACCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttAtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAcgtctattaccaAGATCGAGACCCGACGC chr12:111222374-Variant-A;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Reference C ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag AGTTCGCTTAAG CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttCtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAagttcgcttaagAGATCGAGACCCGACGC chr12:111222374-Reference-C;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative T ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag ACGACTAGTAGA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAacgactagtagaAGATCGAGACCCGACGC chr12:111222374-Alternative-T;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative T ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GTCGGCTATATT CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAgtcggctatattAGATCGAGACCCGACGC chr12:111222374-Alternative-T;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative G ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag GGTTAGGATCAA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAggttaggatcaaAGATCGAGACCCGACGC chr12:111222374-Alternative-G;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative G ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CTCGTGGAATCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAActcgtggaatcaAGATCGAGACCCGACGC chr12:111222374-Alternative-G;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative T ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CTCGCTTACAAG CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAActcgcttacaagAGATCGAGACCCGACGC chr12:111222374-Alternative-T;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative G ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CACGGATATTCA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAcacggatattcaAGATCGAGACCCGACGC chr12:111222374-Alternative-G;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative T ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag CGAGCGATTGAA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAcgagcgattgaaAGATCGAGACCCGACGC chr12:111222374-Alternative-T;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative T ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag ACGCAATGGTGT CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttTtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAacgcaatggtgtAGATCGAGACCCGACGC chr12:111222374-Alternative-T;Patient-57 chr12:111222374-CA DeNovo Patient-57 intergenic NA 0.000513 -0.44 0.14 -0.33 PPP1CC 41590 Alternative G ccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatag ACTTGGAAGACA CGACGCGGTCTCTCTCTccattcgacagcaagtgtggatatttcagaatgaatgaaaaatattttttGtttcaatttatcttttcaaaaggctgctaagttgttaggccacaaatagAGAGGGAGACGGACGTCTCAATAAacttggaagacaAGATCGAGACCCGACGC chr12:111222374-Alternative-G;Patient-57 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative T aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta ACCTAACCGACG CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAacctaaccgacgAGATCGAGACCCGACGC chr12:111437393-Alternative-T;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Reference G aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta GTGTTAGTGGAC CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAgtgttagtggacAGATCGAGACCCGACGC chr12:111437393-Reference-G;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Reference G aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta GAGATGAACCGT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAgagatgaaccgtAGATCGAGACCCGACGC chr12:111437393-Reference-G;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Reference G aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta GCGAAGGTGGAT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAgcgaaggtggatAGATCGAGACCCGACGC chr12:111437393-Reference-G;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative T aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta AGTGTCACGCGA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAagtgtcacgcgaAGATCGAGACCCGACGC chr12:111437393-Alternative-T;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Reference G aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta AGCGGCAGGATT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAagcggcaggattAGATCGAGACCCGACGC chr12:111437393-Reference-G;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative C aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta ACATGCGCCTAC CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAacatgcgcctacAGATCGAGACCCGACGC chr12:111437393-Alternative-C;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative C aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CTCGTAGCGTCA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAActcgtagcgtcaAGATCGAGACCCGACGC chr12:111437393-Alternative-C;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative T aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CAGTTAACCAGA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAcagttaaccagaAGATCGAGACCCGACGC chr12:111437393-Alternative-T;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative C aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CGCAGAGTGCTA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAcgcagagtgctaAGATCGAGACCCGACGC chr12:111437393-Alternative-C;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative C aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta GACGGCTATCGA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAgacggctatcgaAGATCGAGACCCGACGC chr12:111437393-Alternative-C;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative T aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta ATCTGCATCACT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAatctgcatcactAGATCGAGACCCGACGC chr12:111437393-Alternative-T;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative C aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta GCATGGTTCGGT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacCtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAgcatggttcggtAGATCGAGACCCGACGC chr12:111437393-Alternative-C;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Reference G aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CGTGTTAAGGAT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacGtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAcgtgttaaggatAGATCGAGACCCGACGC chr12:111437393-Reference-G;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Variant A aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CTACCGCGTCAT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAActaccgcgtcatAGATCGAGACCCGACGC chr12:111437393-Variant-A;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Variant A aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta AACGAATTGCCT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAaacgaattgcctAGATCGAGACCCGACGC chr12:111437393-Variant-A;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Alternative T aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CTTATTCGGCAT CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacTtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAActtattcggcatAGATCGAGACCCGACGC chr12:111437393-Alternative-T;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Variant A aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta CTAGACTGCGAG CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAActagactgcgagAGATCGAGACCCGACGC chr12:111437393-Variant-A;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Variant A aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta AGTAGTGTAGCA CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAagtagtgtagcaAGATCGAGACCCGACGC chr12:111437393-Variant-A;Patient-92 chr12:111437393-GA DeNovo Patient-92 intergenic 0.000733 0.00154 0.15 5.12 2.64 MYL2 78988 Variant A aacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatcta ACCGTTACACCG CGACGCGGTCTCTCTCTaacaccagttttcctttgcagaaaaaaaattaacagaaaaataaatctacAtatgttaattttaaaaaattccatgtttaacttggtatagtcttatctaAGAGGGAGACGGACGTCTCAATAAaccgttacaccgAGATCGAGACCCGACGC chr12:111437393-Variant-A;Patient-92 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Reference G gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct AAGGTTACGCGG CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAaaggttacgcggAGATCGAGACCCGACGC chr12:112035955-Reference-G;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Reference G gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct ACCTGTCGGCTT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAacctgtcggcttAGATCGAGACCCGACGC chr12:112035955-Reference-G;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Reference G gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct GGCTCAACGAAC CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAggctcaacgaacAGATCGAGACCCGACGC chr12:112035955-Reference-G;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative T gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct AACCAACTTCCT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAaaccaacttcctAGATCGAGACCCGACGC chr12:112035955-Alternative-T;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative T gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct GCGCTAATTGAG CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAgcgctaattgagAGATCGAGACCCGACGC chr12:112035955-Alternative-T;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Reference G gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct ACGCGCTACGTT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAacgcgctacgttAGATCGAGACCCGACGC chr12:112035955-Reference-G;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Reference G gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct GTGATCGTGACA CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaGaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAgtgatcgtgacaAGATCGAGACCCGACGC chr12:112035955-Reference-G;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative T gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct GTGACCGTTAAG CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAgtgaccgttaagAGATCGAGACCCGACGC chr12:112035955-Alternative-T;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Variant A gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct GCGGTGATTCGT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAgcggtgattcgtAGATCGAGACCCGACGC chr12:112035955-Variant-A;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative T gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct AGTACTACCGGC CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAagtactaccggcAGATCGAGACCCGACGC chr12:112035955-Alternative-T;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative T gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CTCTATAAGCGA CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaTaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAActctataagcgaAGATCGAGACCCGACGC chr12:112035955-Alternative-T;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Variant A gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct ACACGTGGCTAT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAacacgtggctatAGATCGAGACCCGACGC chr12:112035955-Variant-A;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative C gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct ACGCCTATCGAA CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAacgcctatcgaaAGATCGAGACCCGACGC chr12:112035955-Alternative-C;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Variant A gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CTGGTGATCGGT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAActggtgatcggtAGATCGAGACCCGACGC chr12:112035955-Variant-A;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Variant A gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct ACCTCGTAAGTT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAacctcgtaagttAGATCGAGACCCGACGC chr12:112035955-Variant-A;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative C gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct AACCGAAGGTGT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAaaccgaaggtgtAGATCGAGACCCGACGC chr12:112035955-Alternative-C;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Variant A gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CGAACATATGCT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaAaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAcgaacatatgctAGATCGAGACCCGACGC chr12:112035955-Variant-A;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative C gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CACATCGGAGCA CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAcacatcggagcaAGATCGAGACCCGACGC chr12:112035955-Alternative-C;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative C gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CATAACTGTCGG CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAcataactgtcggAGATCGAGACCCGACGC chr12:112035955-Alternative-C;Patient-91 chr12:112035955-GA Inherited Patient-91 intronic ATXN2 NA 0.000148 0.32 7.5 0.01 ATXN2 1524 Alternative C gatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatct CGCTGGTACACT CGACGCGGTCTCTCTCTgatttcaggggagttcgggagcccccgccgccgcctcggacacgaacgcaCaggggtgcgggggccaaggcccacttgtctccaccccgtcctccgatctAGAGGGAGACGGACGTCTCAATAAcgctggtacactAGATCGAGACCCGACGC chr12:112035955-Alternative-C;Patient-91 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative C tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGACTAATGCGT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAagactaatgcgtAGATCGAGACCCGACGC chr12:112546045-Alternative-C;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Variant T tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AACGTGTTGGAC CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAaacgtgttggacAGATCGAGACCCGACGC chr12:112546045-Variant-T;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Reference A tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AACACGTCGTCG CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAaacacgtcgtcgAGATCGAGACCCGACGC chr12:112546045-Reference-A;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Reference A tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc ACGCAGTAACGT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAacgcagtaacgtAGATCGAGACCCGACGC chr12:112546045-Reference-A;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Variant T tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGAATTAGCGAC CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAagaattagcgacAGATCGAGACCCGACGC chr12:112546045-Variant-T;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Reference A tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc GACCGAGTAATA CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAgaccgagtaataAGATCGAGACCCGACGC chr12:112546045-Reference-A;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative G tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc ACCAACCAGCAT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAaccaaccagcatAGATCGAGACCCGACGC chr12:112546045-Alternative-G;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Reference A tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGTTACGCCACA CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAagttacgccacaAGATCGAGACCCGACGC chr12:112546045-Reference-A;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative G tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc CATTGTCGTAAG CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAcattgtcgtaagAGATCGAGACCCGACGC chr12:112546045-Alternative-G;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative G tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc CTATGAATCGAC CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAActatgaatcgacAGATCGAGACCCGACGC chr12:112546045-Alternative-G;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative G tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AAGCGCCGTACT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAaagcgccgtactAGATCGAGACCCGACGC chr12:112546045-Alternative-G;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Variant T tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc GGATCGAATAAG CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAggatcgaataagAGATCGAGACCCGACGC chr12:112546045-Variant-T;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative G tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc GGCCGAGATTGA CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcGgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAggccgagattgaAGATCGAGACCCGACGC chr12:112546045-Alternative-G;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Variant T tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc ACCTACCGGTCA CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAacctaccggtcaAGATCGAGACCCGACGC chr12:112546045-Variant-T;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Variant T tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc GGTGATTAGGAT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcTgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAggtgattaggatAGATCGAGACCCGACGC chr12:112546045-Variant-T;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative C tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGGAAGACGTCC CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAaggaagacgtccAGATCGAGACCCGACGC chr12:112546045-Alternative-C;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Reference A tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc CTAACCAGCGCA CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcAgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAActaaccagcgcaAGATCGAGACCCGACGC chr12:112546045-Reference-A;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative C tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGTTAACGACCG CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAagttaacgaccgAGATCGAGACCCGACGC chr12:112546045-Alternative-C;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative C tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc GGAGATCACCAT CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAggagatcaccatAGATCGAGACCCGACGC chr12:112546045-Alternative-C;Patient-71 chr12:112546045-AT DeNovo Patient-71 intronic NAA25 NA 9.9e-05 0.11 4.47 -7.38 NAA25 589 Alternative C tgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggccc AGTTCAACCGGC CGACGCGGTCTCTCTCTtgactcgatctgggtgaccttgcgtcagccccttccccactccggacctcCgtttctcctatgcaccgaagcccacctagtcagacaaccctctaggcccAGAGGGAGACGGACGTCTCAATAAagttcaaccggcAGATCGAGACCCGACGC chr12:112546045-Alternative-C;Patient-71 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Variant C ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt ACATGTCACGCA CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAacatgtcacgcaAGATCGAGACCCGACGC chr12:112907016-Variant-C;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Variant C ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CATTGTTGCATC CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAcattgttgcatcAGATCGAGACCCGACGC chr12:112907016-Variant-C;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Variant C ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt AGTCGGCACGTT CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAagtcggcacgttAGATCGAGACCCGACGC chr12:112907016-Variant-C;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Reference G ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GACCATTGACAG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAgaccattgacagAGATCGAGACCCGACGC chr12:112907016-Reference-G;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Reference G ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt AAGTACGGCATA CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAaagtacggcataAGATCGAGACCCGACGC chr12:112907016-Reference-G;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative T ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CGAATGTCGGAG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAcgaatgtcggagAGATCGAGACCCGACGC chr12:112907016-Alternative-T;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Variant C ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt AACGCCAATGGT CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAaacgccaatggtAGATCGAGACCCGACGC chr12:112907016-Variant-C;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Variant C ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CTACCGGCTAAC CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgCtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAActaccggctaacAGATCGAGACCCGACGC chr12:112907016-Variant-C;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative T ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt AAGTACTACGGT CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAaagtactacggtAGATCGAGACCCGACGC chr12:112907016-Alternative-T;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Reference G ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt AGGCGCTATGAG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAaggcgctatgagAGATCGAGACCCGACGC chr12:112907016-Reference-G;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Reference G ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt ACGTGGTTGTTA CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAacgtggttgttaAGATCGAGACCCGACGC chr12:112907016-Reference-G;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Reference G ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CAATAACTGTGG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgGtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAcaataactgtggAGATCGAGACCCGACGC chr12:112907016-Reference-G;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative T ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GGTAGATACGAG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAggtagatacgagAGATCGAGACCCGACGC chr12:112907016-Alternative-T;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative T ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CGGACAATTGCG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAcggacaattgcgAGATCGAGACCCGACGC chr12:112907016-Alternative-T;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative A ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GCGAATTACGCG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAgcgaattacgcgAGATCGAGACCCGACGC chr12:112907016-Alternative-A;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative A ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GATATCGATTCG CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAgatatcgattcgAGATCGAGACCCGACGC chr12:112907016-Alternative-A;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative T ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt ACGAATCGACAC CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgTtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAacgaatcgacacAGATCGAGACCCGACGC chr12:112907016-Alternative-T;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative A ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GTTATGGCGATA CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAgttatggcgataAGATCGAGACCCGACGC chr12:112907016-Alternative-A;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative A ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt GCAATGGTGACT CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAgcaatggtgactAGATCGAGACCCGACGC chr12:112907016-Alternative-A;Patient-43 chr12:112907016-GC DeNovo Patient-43 intronic PTPN11 0.00051 0.000198 0.54 9.76 0 PTPN11 50479 Alternative A ctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggctt CGAGGTGAGTGT CGACGCGGTCTCTCTCTctgaatttagtctggcaaagtattccctttgtgttgtgagatgattcttgAtgttaccccatcacggtaggtaagatgaattagcaaatgagaaaggcttAGAGGGAGACGGACGTCTCAATAAcgaggtgagtgtAGATCGAGACCCGACGC chr12:112907016-Alternative-A;Patient-43 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative G tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GCAGTCGCAATA CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgcagtcgcaataAGATCGAGACCCGACGC chr12:113271236-Alternative-G;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Variant T tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GGCGATTACCAT CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAggcgattaccatAGATCGAGACCCGACGC chr12:113271236-Variant-T;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative G tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct CTAGCCAATTCA CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAActagccaattcaAGATCGAGACCCGACGC chr12:113271236-Alternative-G;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative G tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AAGCAGGTTGAC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAaagcaggttgacAGATCGAGACCCGACGC chr12:113271236-Alternative-G;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative G tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GCAAGAATGACG CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgcaagaatgacgAGATCGAGACCCGACGC chr12:113271236-Alternative-G;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative G tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AGATTCCGGTTA CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataGttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAagattccggttaAGATCGAGACCCGACGC chr12:113271236-Alternative-G;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative C tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GCCAAGCGATAC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgccaagcgatacAGATCGAGACCCGACGC chr12:113271236-Alternative-C;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative C tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GCAACGACTTGA CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgcaacgacttgaAGATCGAGACCCGACGC chr12:113271236-Alternative-C;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative C tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct CTTGCCATCGAC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAActtgccatcgacAGATCGAGACCCGACGC chr12:113271236-Alternative-C;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Variant T tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct ACTCTTGTGCAT CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAactcttgtgcatAGATCGAGACCCGACGC chr12:113271236-Variant-T;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative C tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct ACCAATTCATCG CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAaccaattcatcgAGATCGAGACCCGACGC chr12:113271236-Alternative-C;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Variant T tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct ATCAATGTGCGT CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAatcaatgtgcgtAGATCGAGACCCGACGC chr12:113271236-Variant-T;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Alternative C tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AATCTGGCTGCG CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataCttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAaatctggctgcgAGATCGAGACCCGACGC chr12:113271236-Alternative-C;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Variant T tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GACCGTTACGAC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgaccgttacgacAGATCGAGACCCGACGC chr12:113271236-Variant-T;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Variant T tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AAGCGGTCCGTT CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataTttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAaagcggtccgttAGATCGAGACCCGACGC chr12:113271236-Variant-T;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Reference A tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AGATAGACGCGC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAagatagacgcgcAGATCGAGACCCGACGC chr12:113271236-Reference-A;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Reference A tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct GATACGAACTTC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAgatacgaacttcAGATCGAGACCCGACGC chr12:113271236-Reference-A;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Reference A tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct ATTCCGGTATAC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAattccggtatacAGATCGAGACCCGACGC chr12:113271236-Reference-A;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Reference A tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct ACATCTAATCGC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAacatctaatcgcAGATCGAGACCCGACGC chr12:113271236-Reference-A;Patient-35 chr12:113271236-AT DeNovo Patient-35 intronic RPH3A 0.000191 4.95e-05 0.16 5.17 0.46 RPH3A 41686 Reference A tctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacct AAGGTGGCGTTC CGACGCGGTCTCTCTCTtctgaccatgtaggtcttttatttgtctttcttgcagattttcattcataAttacttgcgctttgaatgctcagtctgtgagaatcctagggacctacctAGAGGGAGACGGACGTCTCAATAAaaggtggcgttcAGATCGAGACCCGACGC chr12:113271236-Reference-A;Patient-35 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Reference C ctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata ACAACGAAGCTT CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAacaacgaagcttAGATCGAGACCCGACGC chr12:11362815-Reference-C;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Reference C ctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CATAGTGGTTCA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAcatagtggttcaAGATCGAGACCCGACGC chr12:11362815-Reference-C;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Reference C ctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CTGTGCTGCAAG CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAActgtgctgcaagAGATCGAGACCCGACGC chr12:11362815-Reference-C;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Reference C ctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata AGACGACTGTAA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAagacgactgtaaAGATCGAGACCCGACGC chr12:11362815-Reference-C;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Reference C ctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GGTGTAGGTCGA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgCtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAggtgtaggtcgaAGATCGAGACCCGACGC chr12:11362815-Reference-C;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative A ctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GCAACGAGTACG CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAgcaacgagtacgAGATCGAGACCCGACGC chr12:11362815-Alternative-A;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative A ctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CATAACAAGACG CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAcataacaagacgAGATCGAGACCCGACGC chr12:11362815-Alternative-A;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative A ctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GGTATTGATGCA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAggtattgatgcaAGATCGAGACCCGACGC chr12:11362815-Alternative-A;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative A ctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CTGTTATGAGCA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAActgttatgagcaAGATCGAGACCCGACGC chr12:11362815-Alternative-A;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative A ctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GAAGTGATCAAG CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgAtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAgaagtgatcaagAGATCGAGACCCGACGC chr12:11362815-Alternative-A;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative T ctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GACAACTCGTTC CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAgacaactcgttcAGATCGAGACCCGACGC chr12:11362815-Alternative-T;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative T ctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata ACCGCCGAACTA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAaccgccgaactaAGATCGAGACCCGACGC chr12:11362815-Alternative-T;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative T ctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CAACCAGCATGC CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAcaaccagcatgcAGATCGAGACCCGACGC chr12:11362815-Alternative-T;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative T ctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CTCATTCTGTTC CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAActcattctgttcAGATCGAGACCCGACGC chr12:11362815-Alternative-T;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Alternative T ctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata CACTGTCTTAGT CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgTtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAcactgtcttagtAGATCGAGACCCGACGC chr12:11362815-Alternative-T;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Variant G ctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GACATCGAGTTA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAgacatcgagttaAGATCGAGACCCGACGC chr12:11362815-Variant-G;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Variant G ctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GGAATGCGCAGT CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAggaatgcgcagtAGATCGAGACCCGACGC chr12:11362815-Variant-G;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Variant G ctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GACGTCGTAATT CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAgacgtcgtaattAGATCGAGACCCGACGC chr12:11362815-Variant-G;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Variant G ctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata ACTTAGTACGCA CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAacttagtacgcaAGATCGAGACCCGACGC chr12:11362815-Variant-G;Patient-30 chr12:11362815-CG Inherited Patient-30 intergenic NA 0.000243 NA NA NA TAS2R42 23271 Variant G ctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaata GGATCGGCTATC CGACGCGGTCTCTCTCTctccttactttcccatcatcaaaagccagaagactagtacagacagactgGtaatcactatttgggctcataagtaaaacataaagagtaacatgaaataAGAGGGAGACGGACGTCTCAATAAggatcggctatcAGATCGAGACCCGACGC chr12:11362815-Variant-G;Patient-30 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Variant G ttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CGACCAGTGCAT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcgaccagtgcatAGATCGAGACCCGACGC chr12:113919731-Variant-G;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative T ttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AATATGCGGCTA CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAaatatgcggctaAGATCGAGACCCGACGC chr12:113919731-Alternative-T;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Variant G ttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg ACAACCTGACCT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAacaacctgacctAGATCGAGACCCGACGC chr12:113919731-Variant-G;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative T ttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CGAGTGGATGCA CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcgagtggatgcaAGATCGAGACCCGACGC chr12:113919731-Alternative-T;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative T ttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg GCATCGTAACTT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAgcatcgtaacttAGATCGAGACCCGACGC chr12:113919731-Alternative-T;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Variant G ttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CATCGTACTCTA CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcatcgtactctaAGATCGAGACCCGACGC chr12:113919731-Variant-G;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative C ttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CTCGGACGACAT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAActcggacgacatAGATCGAGACCCGACGC chr12:113919731-Alternative-C;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative C ttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg GTTACGTGTACA CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAgttacgtgtacaAGATCGAGACCCGACGC chr12:113919731-Alternative-C;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative T ttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg GACGATATCCGC CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAgacgatatccgcAGATCGAGACCCGACGC chr12:113919731-Alternative-T;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative C ttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg GTTATTCATCGG CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAgttattcatcggAGATCGAGACCCGACGC chr12:113919731-Alternative-C;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Variant G ttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CGCGTTGCGTAT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcgcgttgcgtatAGATCGAGACCCGACGC chr12:113919731-Variant-G;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative C ttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CACACGTATGTT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcacacgtatgttAGATCGAGACCCGACGC chr12:113919731-Alternative-C;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Reference A ttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AACTCCAATCGT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAaactccaatcgtAGATCGAGACCCGACGC chr12:113919731-Reference-A;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative C ttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CGGTGTACGAAC CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatCtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcggtgtacgaacAGATCGAGACCCGACGC chr12:113919731-Alternative-C;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Variant G ttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg CATGACCGAATC CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatGtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAcatgaccgaatcAGATCGAGACCCGACGC chr12:113919731-Variant-G;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Alternative T ttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AAGCAACGCTGT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatTtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAaagcaacgctgtAGATCGAGACCCGACGC chr12:113919731-Alternative-T;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Reference A ttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AGATAATGTGCG CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAagataatgtgcgAGATCGAGACCCGACGC chr12:113919731-Reference-A;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Reference A ttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AGAGTATCGTCT CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAagagtatcgtctAGATCGAGACCCGACGC chr12:113919731-Reference-A;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Reference A ttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg GGTATCCGTCGA CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAggtatccgtcgaAGATCGAGACCCGACGC chr12:113919731-Reference-A;Patient-104 chr12:113919731-AG DeNovo Patient-104 intergenic 0.000498 3.91e-05 -1.02 0 -4.65 SDSL 59514 Reference A ttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtg AGGAACCTAAGG CGACGCGGTCTCTCTCTttacaatggtatatatatatatatatatatatatatatatatatatatatAtatgtatttagcacagtcccattgaattccctggccatcatggcctgtgAGAGGGAGACGGACGTCTCAATAAaggaacctaaggAGATCGAGACCCGACGC chr12:113919731-Reference-A;Patient-104 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Reference C tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac AGTAGAACGTGT CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAagtagaacgtgtAGATCGAGACCCGACGC chr12:114423592-Reference-C;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Variant G tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac ACACCGGTATCA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAacaccggtatcaAGATCGAGACCCGACGC chr12:114423592-Variant-G;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Variant G tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac CTAAGAATGTGG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAActaagaatgtggAGATCGAGACCCGACGC chr12:114423592-Variant-G;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative A tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac CAACGTGCAACC CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAcaacgtgcaaccAGATCGAGACCCGACGC chr12:114423592-Alternative-A;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative T tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac AGTCATTCCGCG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAagtcattccgcgAGATCGAGACCCGACGC chr12:114423592-Alternative-T;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Variant G tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GTTGGCATATCA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgttggcatatcaAGATCGAGACCCGACGC chr12:114423592-Variant-G;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Reference C tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GTCGCTAGGCTT CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgtcgctaggcttAGATCGAGACCCGACGC chr12:114423592-Reference-C;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative T tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac AGCAAGAACGCG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAagcaagaacgcgAGATCGAGACCCGACGC chr12:114423592-Alternative-T;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative A tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac CGATAAGGATCA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAcgataaggatcaAGATCGAGACCCGACGC chr12:114423592-Alternative-A;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Variant G tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GTTAGACATTCG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgttagacattcgAGATCGAGACCCGACGC chr12:114423592-Variant-G;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative T tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac ATTGTGGACGTT CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAattgtggacgttAGATCGAGACCCGACGC chr12:114423592-Alternative-T;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative T tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac CTCGGTTCGTCA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAActcggttcgtcaAGATCGAGACCCGACGC chr12:114423592-Alternative-T;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative T tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GAGATCCTGTGC CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaTactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgagatcctgtgcAGATCGAGACCCGACGC chr12:114423592-Alternative-T;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative A tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac CTAGCGTCCTGA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAActagcgtcctgaAGATCGAGACCCGACGC chr12:114423592-Alternative-A;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Variant G tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GTTGTACGTAAG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaGactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgttgtacgtaagAGATCGAGACCCGACGC chr12:114423592-Variant-G;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Reference C tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac ATAACGATCGGT CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAataacgatcggtAGATCGAGACCCGACGC chr12:114423592-Reference-C;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative A tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac AGCGTTAGGTGG CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAagcgttaggtggAGATCGAGACCCGACGC chr12:114423592-Alternative-A;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Reference C tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac ACAACCACATTC CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAacaaccacattcAGATCGAGACCCGACGC chr12:114423592-Reference-C;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Reference C tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac GCATGTTCGGCA CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaCactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAgcatgttcggcaAGATCGAGACCCGACGC chr12:114423592-Reference-C;Patient-26 chr12:114423592-CG DeNovo Patient-26 intergenic 3.2e-05 0.000513 -0.05 1.97 0.82 RBM19 19415 Alternative A tgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttac AGTGCGGTAGTC CGACGCGGTCTCTCTCTtgagaattaaacaagctcctgttcagcagagcattttggaagctgggaaaAactagattcccctgcttgtcaatggaggttgtgcttatctgttagttacAGAGGGAGACGGACGTCTCAATAAagtgcggtagtcAGATCGAGACCCGACGC chr12:114423592-Alternative-A;Patient-26 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative T agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GACGACAGACAC CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAgacgacagacacAGATCGAGACCCGACGC chr12:116642257-Alternative-T;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative C agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AACAATACGGAC CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAaacaatacggacAGATCGAGACCCGACGC chr12:116642257-Alternative-C;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Reference G agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GACGTACACAGG CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAgacgtacacaggAGATCGAGACCCGACGC chr12:116642257-Reference-G;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative T agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AACGACTCGAGT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAaacgactcgagtAGATCGAGACCCGACGC chr12:116642257-Alternative-T;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Reference G agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AGCGGTGAATTA CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAagcggtgaattaAGATCGAGACCCGACGC chr12:116642257-Reference-G;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Reference G agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GGCCATATCAGT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAggccatatcagtAGATCGAGACCCGACGC chr12:116642257-Reference-G;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative C agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat CACAGCTTGTAA CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAcacagcttgtaaAGATCGAGACCCGACGC chr12:116642257-Alternative-C;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Variant A agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat CACGTATACGAT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAcacgtatacgatAGATCGAGACCCGACGC chr12:116642257-Variant-A;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Reference G agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat CTGGTCCTAAGG CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAActggtcctaaggAGATCGAGACCCGACGC chr12:116642257-Reference-G;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Reference G agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GGCTCATGCCAT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctGtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAggctcatgccatAGATCGAGACCCGACGC chr12:116642257-Reference-G;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative C agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat ATCGTCGGTGCA CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAatcgtcggtgcaAGATCGAGACCCGACGC chr12:116642257-Alternative-C;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Variant A agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AGTAGGTTAACG CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAagtaggttaacgAGATCGAGACCCGACGC chr12:116642257-Variant-A;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Variant A agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GTCGCAACGGAT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAgtcgcaacggatAGATCGAGACCCGACGC chr12:116642257-Variant-A;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Variant A agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat CGAGCATATTCG CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAcgagcatattcgAGATCGAGACCCGACGC chr12:116642257-Variant-A;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative T agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GACAACGGCACA CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAgacaacggcacaAGATCGAGACCCGACGC chr12:116642257-Alternative-T;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Variant A agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AGGTACAGTCGG CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctAtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAaggtacagtcggAGATCGAGACCCGACGC chr12:116642257-Variant-A;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative T agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GCGCATGGTTAT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAgcgcatggttatAGATCGAGACCCGACGC chr12:116642257-Alternative-T;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative T agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat ACTCACACGTAA CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctTtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAactcacacgtaaAGATCGAGACCCGACGC chr12:116642257-Alternative-T;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative C agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat AACGCTAGCGCT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAaacgctagcgctAGATCGAGACCCGACGC chr12:116642257-Alternative-C;Patient-37 chr12:116642257-GA Inherited Patient-37 intronic MED13L 6.4e-05 4.95e-05 -0.01 2.45 0.49 MED13L 72733 Alternative C agaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagat GGTGTTGTCAAT CGACGCGGTCTCTCTCTagaactttcctggctagcaaaagactgcttgctgtctcagtacccatgctCtaggcagttcatggcaattcttacaacaatcctatttttcagcgtagatAGAGGGAGACGGACGTCTCAATAAggtgttgtcaatAGATCGAGACCCGACGC chr12:116642257-Alternative-C;Patient-37 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Reference G caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CTGTGTCTGTCG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAActgtgtctgtcgAGATCGAGACCCGACGC chr12:117085420-Reference-G;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Reference G caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CAGGTGACTTAT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAcaggtgacttatAGATCGAGACCCGACGC chr12:117085420-Reference-G;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Reference G caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GATTCGTGGTAT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAgattcgtggtatAGATCGAGACCCGACGC chr12:117085420-Reference-G;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative T caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CATTCTCGACTA CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAcattctcgactaAGATCGAGACCCGACGC chr12:117085420-Alternative-T;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Reference G caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt AACAGCGCACCA CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAaacagcgcaccaAGATCGAGACCCGACGC chr12:117085420-Reference-G;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Reference G caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt ACACCTACGACG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcGttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAacacctacgacgAGATCGAGACCCGACGC chr12:117085420-Reference-G;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative T caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GGAGTCAATACT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAggagtcaatactAGATCGAGACCCGACGC chr12:117085420-Alternative-T;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative T caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt ATCTGACTTCGT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAatctgacttcgtAGATCGAGACCCGACGC chr12:117085420-Alternative-T;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative T caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CGTCGAATTCGG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAcgtcgaattcggAGATCGAGACCCGACGC chr12:117085420-Alternative-T;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Variant A caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GCGTCTGGCAAT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAgcgtctggcaatAGATCGAGACCCGACGC chr12:117085420-Variant-A;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative C caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt AGTTCGTAGACT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAagttcgtagactAGATCGAGACCCGACGC chr12:117085420-Alternative-C;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Variant A caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GTATATGGAGCT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAgtatatggagctAGATCGAGACCCGACGC chr12:117085420-Variant-A;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative T caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CTGCTTGGCAAG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcTttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAActgcttggcaagAGATCGAGACCCGACGC chr12:117085420-Alternative-T;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Variant A caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GGCCATAACGTC CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAggccataacgtcAGATCGAGACCCGACGC chr12:117085420-Variant-A;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative C caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CGCAATACGGAC CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAcgcaatacggacAGATCGAGACCCGACGC chr12:117085420-Alternative-C;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Variant A caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt AGCCGGATTGAG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAagccggattgagAGATCGAGACCCGACGC chr12:117085420-Variant-A;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative C caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt CAGTACCAACAC CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAcagtaccaacacAGATCGAGACCCGACGC chr12:117085420-Alternative-C;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative C caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt ACGTAGCGCCTA CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAacgtagcgcctaAGATCGAGACCCGACGC chr12:117085420-Alternative-C;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Variant A caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GACGCGTTATCG CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcAttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAgacgcgttatcgAGATCGAGACCCGACGC chr12:117085420-Variant-A;Patient-88 chr12:117085420-GA DeNovo Patient-88 intergenic 0.000764 0.00103 0.04 3.2 -0.54 RNFT2 90675 Alternative C caggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgttt GTCGTAATACGT CGACGCGGTCTCTCTCTcaggagcctattaaattaggagatttaaaatccaacaggcagatcactgcCttcatccacatgacaacagaagacggaatggggaccgcaggtgatgtttAGAGGGAGACGGACGTCTCAATAAgtcgtaatacgtAGATCGAGACCCGACGC chr12:117085420-Alternative-C;Patient-88 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative C aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggca CAGCTGTGCTGA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAcagctgtgctgaAGATCGAGACCCGACGC chr12:117735783-Alternative-C;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative C aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggca AAGGCGGCCTTA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAaaggcggccttaAGATCGAGACCCGACGC chr12:117735783-Alternative-C;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative C aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggca CGCACTTACGAC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAcgcacttacgacAGATCGAGACCCGACGC chr12:117735783-Alternative-C;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Reference G aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggca AAGTAGCGTAGA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAaagtagcgtagaAGATCGAGACCCGACGC chr12:117735783-Reference-G;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative C aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggca AACGGTAGCTAT CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAaacggtagctatAGATCGAGACCCGACGC chr12:117735783-Alternative-C;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative C aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggca ATACTACCGTAC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagCgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAatactaccgtacAGATCGAGACCCGACGC chr12:117735783-Alternative-C;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Reference G aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggca CGGATTGACCAC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAcggattgaccacAGATCGAGACCCGACGC chr12:117735783-Reference-G;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Variant A aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GGTTGCTCGCTT CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAggttgctcgcttAGATCGAGACCCGACGC chr12:117735783-Variant-A;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Variant A aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggca AGGAAGTGATCG CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAaggaagtgatcgAGATCGAGACCCGACGC chr12:117735783-Variant-A;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Variant A aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GATATTCGGCGC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAgatattcggcgcAGATCGAGACCCGACGC chr12:117735783-Variant-A;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Reference G aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GTCAATAGATGG CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAgtcaatagatggAGATCGAGACCCGACGC chr12:117735783-Reference-G;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Variant A aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggca ACTTCATCGTCA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAacttcatcgtcaAGATCGAGACCCGACGC chr12:117735783-Variant-A;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative T aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggca CGGACAGCTATT CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAcggacagctattAGATCGAGACCCGACGC chr12:117735783-Alternative-T;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Reference G aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GATCGACGCGAT CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAgatcgacgcgatAGATCGAGACCCGACGC chr12:117735783-Reference-G;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Reference G aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggca CGATCGTTAAGG CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagGgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAcgatcgttaaggAGATCGAGACCCGACGC chr12:117735783-Reference-G;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Variant A aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggca ACGTGCAGTCAA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagAgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAacgtgcagtcaaAGATCGAGACCCGACGC chr12:117735783-Variant-A;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative T aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggca ATAGTCGTCGGC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAatagtcgtcggcAGATCGAGACCCGACGC chr12:117735783-Alternative-T;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative T aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GGAATATCCTAC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAggaatatcctacAGATCGAGACCCGACGC chr12:117735783-Alternative-T;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative T aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggca GAGCAGTTCGTC CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAgagcagttcgtcAGATCGAGACCCGACGC chr12:117735783-Alternative-T;Patient-72 chr12:117735783-GA DeNovo Patient-72 intronic NOS1 0.000287 0.000148471 0.08 3.96 0.23 NOS1 63823 Alternative T aacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggca ATCTAGCCGATA CGACGCGGTCTCTCTCTaacatcttaggagctattatggcagcagtcctcaacctttttggcaccagTgatcggttttgtggaagacaatttttccatggactggtggtcgggggcaAGAGGGAGACGGACGTCTCAATAAatctagccgataAGATCGAGACCCGACGC chr12:117735783-Alternative-T;Patient-72 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Variant G gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt CTCTATACGGTT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAActctatacggttAGATCGAGACCCGACGC chr12:118347859-Variant-G;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Variant G gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GCGCCGTTAAGA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgcgccgttaagaAGATCGAGACCCGACGC chr12:118347859-Variant-G;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Variant G gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GACGGTAGCGAA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgacggtagcgaaAGATCGAGACCCGACGC chr12:118347859-Variant-G;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Variant G gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GATATGAGGTGT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgatatgaggtgtAGATCGAGACCCGACGC chr12:118347859-Variant-G;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative T gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt ACTCTTGCGACT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAactcttgcgactAGATCGAGACCCGACGC chr12:118347859-Alternative-T;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative T gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GATCGAGAGCGT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgatcgagagcgtAGATCGAGACCCGACGC chr12:118347859-Alternative-T;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Variant G gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GTTGGACCGTGT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacGctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgttggaccgtgtAGATCGAGACCCGACGC chr12:118347859-Variant-G;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative T gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt AACGTAGCCTAT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAaacgtagcctatAGATCGAGACCCGACGC chr12:118347859-Alternative-T;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative T gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GGTGGCTAACGA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAggtggctaacgaAGATCGAGACCCGACGC chr12:118347859-Alternative-T;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative T gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GGCAGTTGCATC CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacTctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAggcagttgcatcAGATCGAGACCCGACGC chr12:118347859-Alternative-T;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative A gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt CATGCGGAGCTA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAcatgcggagctaAGATCGAGACCCGACGC chr12:118347859-Alternative-A;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative A gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt CGACAATGCGGT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAcgacaatgcggtAGATCGAGACCCGACGC chr12:118347859-Alternative-A;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative A gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt ACGACATACGTC CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAacgacatacgtcAGATCGAGACCCGACGC chr12:118347859-Alternative-A;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Reference C gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GACCGTGACGAA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgaccgtgacgaaAGATCGAGACCCGACGC chr12:118347859-Reference-C;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Reference C gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt CTTGCACAACCG CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAActtgcacaaccgAGATCGAGACCCGACGC chr12:118347859-Reference-C;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Reference C gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt ACTGCGTCATAA CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAactgcgtcataaAGATCGAGACCCGACGC chr12:118347859-Reference-C;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Reference C gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt ATCTGCCGAACC CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAatctgccgaaccAGATCGAGACCCGACGC chr12:118347859-Reference-C;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative A gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GAGCTCTCTGCT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAgagctctctgctAGATCGAGACCCGACGC chr12:118347859-Alternative-A;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Alternative A gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt GGTTACACGTCC CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacActgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAggttacacgtccAGATCGAGACCCGACGC chr12:118347859-Alternative-A;Patient-55 chr12:118347859-CG DeNovo Patient-55 intronic KSR2 NA 4.95e-05 -0.08 1.62 0.24 KSR2 58168 Reference C gaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgt AACTCACACGAT CGACGCGGTCTCTCTCTgaacatttgaggccaggagttcgaaaccaacctgggcaacatagggaaacCctgtctctgcaaaaaaataagtatacattagccaggcatggtggtgtgtAGAGGGAGACGGACGTCTCAATAAaactcacacgatAGATCGAGACCCGACGC chr12:118347859-Reference-C;Patient-55 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative T tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat GTAAGTGCCGGT CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAgtaagtgccggtAGATCGAGACCCGACGC chr12:11865991-Alternative-T;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative T tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat GTTCTATACAGG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAgttctatacaggAGATCGAGACCCGACGC chr12:11865991-Alternative-T;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative T tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat AAGACTATGCGA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAaagactatgcgaAGATCGAGACCCGACGC chr12:11865991-Alternative-T;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative T tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat GCGTGCGAACTA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAgcgtgcgaactaAGATCGAGACCCGACGC chr12:11865991-Alternative-T;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Reference A tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat CGCACTAAGGCA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAcgcactaaggcaAGATCGAGACCCGACGC chr12:11865991-Reference-A;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative T tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ATTCATCGACCT CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaTgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAattcatcgacctAGATCGAGACCCGACGC chr12:11865991-Alternative-T;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Reference A tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat AACGATTGCGCG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAaacgattgcgcgAGATCGAGACCCGACGC chr12:11865991-Reference-A;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Reference A tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ACGGTATGAGAT CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAacggtatgagatAGATCGAGACCCGACGC chr12:11865991-Reference-A;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Variant C tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat AGGTGAGTCACG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAaggtgagtcacgAGATCGAGACCCGACGC chr12:11865991-Variant-C;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Reference A tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat CGCGTGTCGTAA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAcgcgtgtcgtaaAGATCGAGACCCGACGC chr12:11865991-Reference-A;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Reference A tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ACTGGTAGCGCA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaAgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAactggtagcgcaAGATCGAGACCCGACGC chr12:11865991-Reference-A;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Variant C tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat GATAGCGGAATA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAgatagcggaataAGATCGAGACCCGACGC chr12:11865991-Variant-C;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Variant C tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat AGGCGTCTGTGA CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAaggcgtctgtgaAGATCGAGACCCGACGC chr12:11865991-Variant-C;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Variant C tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ACGTTGCGTCCT CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAacgttgcgtcctAGATCGAGACCCGACGC chr12:11865991-Variant-C;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Variant C tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat GTGTTAACTACC CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaCgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAgtgttaactaccAGATCGAGACCCGACGC chr12:11865991-Variant-C;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative G tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat AACTAAGCCGGC CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAaactaagccggcAGATCGAGACCCGACGC chr12:11865991-Alternative-G;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative G tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat CGTGGAATGTGG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAcgtggaatgtggAGATCGAGACCCGACGC chr12:11865991-Alternative-G;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative G tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat CGCCATCTACAG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAcgccatctacagAGATCGAGACCCGACGC chr12:11865991-Alternative-G;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative G tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ATCGTACTCTAC CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAatcgtactctacAGATCGAGACCCGACGC chr12:11865991-Alternative-G;Patient-54 chr12:11865991-AC DeNovo Patient-54 intronic ETV6 NA 4.95e-05 0.39 8.29 3.24 ETV6 63202 Alternative G tcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagat ATAACAGGCGAG CGACGCGGTCTCTCTCTtcacctcccacctgctacctgagatgggagccacacgtgaagtgagaagaGgggagaatgaccaggtgggtgatgaatttaaactggaaagagaacagatAGAGGGAGACGGACGTCTCAATAAataacaggcgagAGATCGAGACCCGACGC chr12:11865991-Alternative-G;Patient-54 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Variant G tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AGGCTGAATAGT CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAaggctgaatagtAGATCGAGACCCGACGC chr12:120202864-Variant-G;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Variant G tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CACGAACTTAAG CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcacgaacttaagAGATCGAGACCCGACGC chr12:120202864-Variant-G;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative T tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CATCGAGATCAT CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcatcgagatcatAGATCGAGACCCGACGC chr12:120202864-Alternative-T;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Variant G tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CACAGCAAGCGA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcacagcaagcgaAGATCGAGACCCGACGC chr12:120202864-Variant-G;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Variant G tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc GAGCTAGATACT CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAgagctagatactAGATCGAGACCCGACGC chr12:120202864-Variant-G;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Variant G tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AGTCGTCGGCTA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctGtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAagtcgtcggctaAGATCGAGACCCGACGC chr12:120202864-Variant-G;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative T tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc ACTCAAGTTCGA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAactcaagttcgaAGATCGAGACCCGACGC chr12:120202864-Alternative-T;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative T tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CGACGATACAGT CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcgacgatacagtAGATCGAGACCCGACGC chr12:120202864-Alternative-T;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative A tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc GTCATGAAGACA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAgtcatgaagacaAGATCGAGACCCGACGC chr12:120202864-Alternative-A;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative T tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CATTCGAAGCTA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcattcgaagctaAGATCGAGACCCGACGC chr12:120202864-Alternative-T;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative A tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AATGTCGGTTCA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAaatgtcggttcaAGATCGAGACCCGACGC chr12:120202864-Alternative-A;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative T tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc ATCGAGCGATCG CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctTtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAatcgagcgatcgAGATCGAGACCCGACGC chr12:120202864-Alternative-T;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Reference C tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc ACGTAATCGAGA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAacgtaatcgagaAGATCGAGACCCGACGC chr12:120202864-Reference-C;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative A tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CGACATCTACGC CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAcgacatctacgcAGATCGAGACCCGACGC chr12:120202864-Alternative-A;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Reference C tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AGATAGAAGGCA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAagatagaaggcaAGATCGAGACCCGACGC chr12:120202864-Reference-C;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Reference C tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc GATATGCTTACG CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAgatatgcttacgAGATCGAGACCCGACGC chr12:120202864-Reference-C;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative A tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AACGCGTATATC CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAaacgcgtatatcAGATCGAGACCCGACGC chr12:120202864-Alternative-A;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Reference C tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AACTCGTTGTGA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAaactcgttgtgaAGATCGAGACCCGACGC chr12:120202864-Reference-C;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Reference C tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc AACGTATGTCGT CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctCtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAAaacgtatgtcgtAGATCGAGACCCGACGC chr12:120202864-Reference-C;Patient-26 chr12:120202864-CG DeNovo Patient-26 intronic CIT NA 4.95e-05 0.33 7.63 0.21 PRKAB1 97102 Alternative A tgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagcccc CTCTAGCTGTTA CGACGCGGTCTCTCTCTtgttggccaggctggtcttgaactcctgacctcaggtgatccacccgcctAtgccacccaagtgctgggattacaggcgtgaaccaccgcacccagccccAGAGGGAGACGGACGTCTCAATAActctagctgttaAGATCGAGACCCGACGC chr12:120202864-Alternative-A;Patient-26 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Reference G aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagag CTTAGGTTCAGA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAActtaggttcagaAGATCGAGACCCGACGC chr12:120715293-Reference-G;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Reference G aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagag CGTTCGCTATAT CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAcgttcgctatatAGATCGAGACCCGACGC chr12:120715293-Reference-G;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Reference G aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagag ACAATGTTCACG CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAacaatgttcacgAGATCGAGACCCGACGC chr12:120715293-Reference-G;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Reference G aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagag CTAATTGCGCGC CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAActaattgcgcgcAGATCGAGACCCGACGC chr12:120715293-Reference-G;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Reference G aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagag AGTACTAGGCCG CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttGttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAagtactaggccgAGATCGAGACCCGACGC chr12:120715293-Reference-G;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Variant T aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagag GTGTTACGGACA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgtgttacggacaAGATCGAGACCCGACGC chr12:120715293-Variant-T;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Variant T aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagag ACGTAGATACGA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAacgtagatacgaAGATCGAGACCCGACGC chr12:120715293-Variant-T;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative A aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagag GACCTCAACGAA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgacctcaacgaaAGATCGAGACCCGACGC chr12:120715293-Alternative-A;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Variant T aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagag ATAGGCTATCCT CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAataggctatcctAGATCGAGACCCGACGC chr12:120715293-Variant-T;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Variant T aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagag GGACATGCTAGG CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAggacatgctaggAGATCGAGACCCGACGC chr12:120715293-Variant-T;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative C aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagag GCGAGAATATCA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgcgagaatatcaAGATCGAGACCCGACGC chr12:120715293-Alternative-C;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative A aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagag CTTAAGAGGTTC CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAActtaagaggttcAGATCGAGACCCGACGC chr12:120715293-Alternative-A;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative C aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagag GTAATTCGGCTA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgtaattcggctaAGATCGAGACCCGACGC chr12:120715293-Alternative-C;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Variant T aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagag GTTAGACAGTAC CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttTttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgttagacagtacAGATCGAGACCCGACGC chr12:120715293-Variant-T;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative C aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagag CTGAATAGGCTT CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAActgaataggcttAGATCGAGACCCGACGC chr12:120715293-Alternative-C;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative A aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagag CGGATATGTAAC CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAcggatatgtaacAGATCGAGACCCGACGC chr12:120715293-Alternative-A;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative C aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagag CGACTCCGTACT CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAcgactccgtactAGATCGAGACCCGACGC chr12:120715293-Alternative-C;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative A aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagag CACGTAGGTTCG CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAcacgtaggttcgAGATCGAGACCCGACGC chr12:120715293-Alternative-A;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative A aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagag GTCGGACGTGAA CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttAttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgtcggacgtgaaAGATCGAGACCCGACGC chr12:120715293-Alternative-A;Patient-37 chr12:120715293-GT DeNovo Patient-37 intergenic 0.000501 0.00103 -0.25 0.5 0 PXN 11718 Alternative C aaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagag GCGGAACGCAAT CGACGCGGTCTCTCTCTaaagtgctgggattacaggcgtgagtacccggcaatgttatggtttttttCttttttttttttagtatttattgatcattcttgggtgtttcccagagagAGAGGGAGACGGACGTCTCAATAAgcggaacgcaatAGATCGAGACCCGACGC chr12:120715293-Alternative-C;Patient-37 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative C gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag ACACGCACTCGA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAacacgcactcgaAGATCGAGACCCGACGC chr12:120827536-Alternative-C;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Variant A gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CTCGGAGTGATA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAActcggagtgataAGATCGAGACCCGACGC chr12:120827536-Variant-A;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative C gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GCGTGTCGCAAT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAgcgtgtcgcaatAGATCGAGACCCGACGC chr12:120827536-Alternative-C;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Variant A gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag ACTCTCGTAAGA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAactctcgtaagaAGATCGAGACCCGACGC chr12:120827536-Variant-A;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative C gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CGAATTAAGGCA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAcgaattaaggcaAGATCGAGACCCGACGC chr12:120827536-Alternative-C;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Variant A gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CTCGTCAGACCT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAActcgtcagacctAGATCGAGACCCGACGC chr12:120827536-Variant-A;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative C gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CAGGTCGTCTTC CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAcaggtcgtcttcAGATCGAGACCCGACGC chr12:120827536-Alternative-C;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Variant A gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag ACCGTAGTCCGA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAaccgtagtccgaAGATCGAGACCCGACGC chr12:120827536-Variant-A;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative C gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GGATATCCGAAG CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaCggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAggatatccgaagAGATCGAGACCCGACGC chr12:120827536-Alternative-C;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative T gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CTAGACTACGAT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAActagactacgatAGATCGAGACCCGACGC chr12:120827536-Alternative-T;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Reference G gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag AGCAGACTACGG CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAagcagactacggAGATCGAGACCCGACGC chr12:120827536-Reference-G;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Reference G gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag AGGACTTCGGAG CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAaggacttcggagAGATCGAGACCCGACGC chr12:120827536-Reference-G;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative T gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GCCGTATTACTT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAgccgtattacttAGATCGAGACCCGACGC chr12:120827536-Alternative-T;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Reference G gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GCATATGCGGAG CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAgcatatgcggagAGATCGAGACCCGACGC chr12:120827536-Reference-G;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Reference G gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CACATCAACTTC CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAcacatcaacttcAGATCGAGACCCGACGC chr12:120827536-Reference-G;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Variant A gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GGAATGTAACGT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaAggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAggaatgtaacgtAGATCGAGACCCGACGC chr12:120827536-Variant-A;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Reference G gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GTATAACTCGGT CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaGggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAgtataactcggtAGATCGAGACCCGACGC chr12:120827536-Reference-G;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative T gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag CAGTTGCATCGG CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAcagttgcatcggAGATCGAGACCCGACGC chr12:120827536-Alternative-T;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative T gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag GACGTTATTGCA CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAgacgttattgcaAGATCGAGACCCGACGC chr12:120827536-Alternative-T;Patient-91 chr12:120827536-GA DeNovo Patient-91 intergenic 0.000333 0.00103 -0.32 0.31 -0.2 COX6A1 48356 Alternative T gagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaag AGCAGCGTTCAC CGACGCGGTCTCTCTCTgagggagggagggaaggagaggaggaaggaagggagagaggaaggagggaTggagggaaggagaggaggaaggaaggaagagagggaggaggggaggaagAGAGGGAGACGGACGTCTCAATAAagcagcgttcacAGATCGAGACCCGACGC chr12:120827536-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative T gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AACGCCACATAT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaacgccacatatAGATCGAGACCCGACGC chr12:120827540-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Reference G gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag CAAGGTGCGTGT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAcaaggtgcgtgtAGATCGAGACCCGACGC chr12:120827540-Reference-G;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative T gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag CTCTCGTTAGTT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAActctcgttagttAGATCGAGACCCGACGC chr12:120827540-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative T gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AACTAATGCGTC CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaactaatgcgtcAGATCGAGACCCGACGC chr12:120827540-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative T gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AGTAAGCATACG CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAagtaagcatacgAGATCGAGACCCGACGC chr12:120827540-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Variant A gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AAGGCGAAGTAA CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaaggcgaagtaaAGATCGAGACCCGACGC chr12:120827540-Variant-A;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative T gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ATCTCTCTGTTC CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaTggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAatctctctgttcAGATCGAGACCCGACGC chr12:120827540-Alternative-T;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative C gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ATATGCTAACCG CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAatatgctaaccgAGATCGAGACCCGACGC chr12:120827540-Alternative-C;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative C gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag CGTTCATCGTCG CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAcgttcatcgtcgAGATCGAGACCCGACGC chr12:120827540-Alternative-C;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Variant A gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag CTGGTAGAAGCA CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAActggtagaagcaAGATCGAGACCCGACGC chr12:120827540-Variant-A;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Variant A gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag GAGGTTATTGTC CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAgaggttattgtcAGATCGAGACCCGACGC chr12:120827540-Variant-A;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative C gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AGGAGAATCGGC CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaggagaatcggcAGATCGAGACCCGACGC chr12:120827540-Alternative-C;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative C gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag GCGACGGCTTAT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAgcgacggcttatAGATCGAGACCCGACGC chr12:120827540-Alternative-C;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Reference G gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag AAGCGCATGCGA CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaagcgcatgcgaAGATCGAGACCCGACGC chr12:120827540-Reference-G;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Alternative C gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ACTTAGTCGCTT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaCggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAacttagtcgcttAGATCGAGACCCGACGC chr12:120827540-Alternative-C;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Variant A gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag GAGCAACGCTGA CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAgagcaacgctgaAGATCGAGACCCGACGC chr12:120827540-Variant-A;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Variant A gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ACGATATCCAAC CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaAggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAacgatatccaacAGATCGAGACCCGACGC chr12:120827540-Variant-A;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Reference G gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag CGTGTCGAACGT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAcgtgtcgaacgtAGATCGAGACCCGACGC chr12:120827540-Reference-G;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Reference G gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ACCGGCTCTGTT CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAaccggctctgttAGATCGAGACCCGACGC chr12:120827540-Reference-G;Patient-91 chr12:120827540-GA DeNovo Patient-91 intergenic 0.000373 0.000513 -0.4 0.18 -1.68 COX6A1 48352 Reference G gagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaag ACTTCGAGTCAA CGACGCGGTCTCTCTCTgagggagggaaggagaggaggaaggaagggagagaggaaggagggagggaGggaaggagaggaggaaggaaggaagagagggaggaggggaggaaggaagAGAGGGAGACGGACGTCTCAATAAacttcgagtcaaAGATCGAGACCCGACGC chr12:120827540-Reference-G;Patient-91 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Variant T gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GATTCGATCCGC CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAgattcgatccgcAGATCGAGACCCGACGC chr12:120868573-Variant-T;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Variant T gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GGATACCATTGT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAggataccattgtAGATCGAGACCCGACGC chr12:120868573-Variant-T;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative A gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AACAGGTGAATC CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAaacaggtgaatcAGATCGAGACCCGACGC chr12:120868573-Alternative-A;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative A gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AATGCGAACCTT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAaatgcgaaccttAGATCGAGACCCGACGC chr12:120868573-Alternative-A;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative A gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GTGTCGGATTCG CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAgtgtcggattcgAGATCGAGACCCGACGC chr12:120868573-Alternative-A;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Variant T gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt CTAGTAGGTTCA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAActagtaggttcaAGATCGAGACCCGACGC chr12:120868573-Variant-T;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Variant T gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GAGCAACGTACG CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAgagcaacgtacgAGATCGAGACCCGACGC chr12:120868573-Variant-T;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Reference C gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt CGTCTAGCGTAC CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAcgtctagcgtacAGATCGAGACCCGACGC chr12:120868573-Reference-C;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Reference C gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt ACGAACTGGCGT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAacgaactggcgtAGATCGAGACCCGACGC chr12:120868573-Reference-C;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative G gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AGACCAAGACGT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAagaccaagacgtAGATCGAGACCCGACGC chr12:120868573-Alternative-G;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative A gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt ATTGTGACCGCA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAattgtgaccgcaAGATCGAGACCCGACGC chr12:120868573-Alternative-A;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Reference C gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AGTAAGGATGCT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAagtaaggatgctAGATCGAGACCCGACGC chr12:120868573-Reference-C;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Variant T gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AGTCGCGCTTGT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataTcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAagtcgcgcttgtAGATCGAGACCCGACGC chr12:120868573-Variant-T;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Reference C gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt CTTAGTGGTAAC CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAActtagtggtaacAGATCGAGACCCGACGC chr12:120868573-Reference-C;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative A gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GTGTCGCTCCTA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataAcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAgtgtcgctcctaAGATCGAGACCCGACGC chr12:120868573-Alternative-A;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative G gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AATAGCTGCCTA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAaatagctgcctaAGATCGAGACCCGACGC chr12:120868573-Alternative-G;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative G gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AGTTGGAATCGA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAagttggaatcgaAGATCGAGACCCGACGC chr12:120868573-Alternative-G;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative G gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GCGGAATTCGTC CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAgcggaattcgtcAGATCGAGACCCGACGC chr12:120868573-Alternative-G;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Alternative G gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt AGCAGAACATCA CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataGcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAagcagaacatcaAGATCGAGACCCGACGC chr12:120868573-Alternative-G;Patient-23 chr12:120868573-CT DeNovo Patient-23 intergenic NA 0.000513 0.16 5.31 -0.73 DYNLL1 39086 Reference C gcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaacttttttttttttt GGAATAACGTGT CGACGCGGTCTCTCTCTgcagaaggggtccctgccctcatgtggcttacaatctaatggaactaataCcagcaacggaagtgccgctagcgacttgattaaaactttttttttttttAGAGGGAGACGGACGTCTCAATAAggaataacgtgtAGATCGAGACCCGACGC chr12:120868573-Reference-C;Patient-23 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative A gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc ACGCAGCTATTA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAacgcagctattaAGATCGAGACCCGACGC chr12:121549131-Alternative-A;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative A gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GTGGCTCTTAGG CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgtggctcttaggAGATCGAGACCCGACGC chr12:121549131-Alternative-A;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative C gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CGTGGCTATATT CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAcgtggctatattAGATCGAGACCCGACGC chr12:121549131-Alternative-C;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative C gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc ACTACGTGGTAA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAactacgtggtaaAGATCGAGACCCGACGC chr12:121549131-Alternative-C;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative C gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CAGCGATAGATA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAcagcgatagataAGATCGAGACCCGACGC chr12:121549131-Alternative-C;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative C gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GGAAGTGACCGT CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAggaagtgaccgtAGATCGAGACCCGACGC chr12:121549131-Alternative-C;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative C gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc AAGCGTATACAC CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagCgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAaagcgtatacacAGATCGAGACCCGACGC chr12:121549131-Alternative-C;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative A gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GATCCGACATGA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgatccgacatgaAGATCGAGACCCGACGC chr12:121549131-Alternative-A;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative A gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc AGGCTAAGATGT CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAaggctaagatgtAGATCGAGACCCGACGC chr12:121549131-Alternative-A;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Reference G gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GATGTACCGCAA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgatgtaccgcaaAGATCGAGACCCGACGC chr12:121549131-Reference-G;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Alternative A gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc AGTGACCGGCTA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagAgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAagtgaccggctaAGATCGAGACCCGACGC chr12:121549131-Alternative-A;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Variant T gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CGCGAACCTAAG CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAcgcgaacctaagAGATCGAGACCCGACGC chr12:121549131-Variant-T;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Reference G gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CTGAACAGCGCA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAActgaacagcgcaAGATCGAGACCCGACGC chr12:121549131-Reference-G;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Reference G gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CTTGTCTTCAGA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAActtgtcttcagaAGATCGAGACCCGACGC chr12:121549131-Reference-G;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Reference G gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc AATCTAGCCTGA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAaatctagcctgaAGATCGAGACCCGACGC chr12:121549131-Reference-G;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Reference G gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GCGTGGTAGCTA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagGgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgcgtggtagctaAGATCGAGACCCGACGC chr12:121549131-Reference-G;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Variant T gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GCGTTAGTAACA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgcgttagtaacaAGATCGAGACCCGACGC chr12:121549131-Variant-T;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Variant T gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc CGGACTCACACT CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAcggactcacactAGATCGAGACCCGACGC chr12:121549131-Variant-T;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Variant T gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GCGATGTAGAAG CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgcgatgtagaagAGATCGAGACCCGACGC chr12:121549131-Variant-T;Patient-94 chr12:121549131-GT Inherited Patient-94 intergenic NA 0.000512821 NA NA NA OASL 72085 Variant T gggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatcc GTAACTCTCACA CGACGCGGTCTCTCTCTgggggacagagtgagactctaactcaaaaaaaagaagggaaggaaggaagTgagggagggagggaggggagccaggcacagtggctcacacctgtaatccAGAGGGAGACGGACGTCTCAATAAgtaactctcacaAGATCGAGACCCGACGC chr12:121549131-Variant-T;Patient-94 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative C ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GTACGACTTCAA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgtacgacttcaaAGATCGAGACCCGACGC chr12:121907849-Alternative-C;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative C ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GACTAAGGCGGT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgactaaggcggtAGATCGAGACCCGACGC chr12:121907849-Alternative-C;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative C ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GCATGCCACTAA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgcatgccactaaAGATCGAGACCCGACGC chr12:121907849-Alternative-C;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative T ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct ACGCAAGCTCGT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAacgcaagctcgtAGATCGAGACCCGACGC chr12:121907849-Alternative-T;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative T ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct ATAGCCATAGCT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAatagccatagctAGATCGAGACCCGACGC chr12:121907849-Alternative-T;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative T ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GTAGCGTGCTGA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgtagcgtgctgaAGATCGAGACCCGACGC chr12:121907849-Alternative-T;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative C ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct ACGTTGTGAACT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAacgttgtgaactAGATCGAGACCCGACGC chr12:121907849-Alternative-C;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Variant A ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct AGGCGTATGTGG CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAaggcgtatgtggAGATCGAGACCCGACGC chr12:121907849-Variant-A;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative T ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct ATCGTGTACCGC CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAatcgtgtaccgcAGATCGAGACCCGACGC chr12:121907849-Alternative-T;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Reference G ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GGTATCGGATGG CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAggtatcggatggAGATCGAGACCCGACGC chr12:121907849-Reference-G;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative C ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct CGGTCAACTTCG CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgCagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAcggtcaacttcgAGATCGAGACCCGACGC chr12:121907849-Alternative-C;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Variant A ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct CGGTGTACGCAT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAcggtgtacgcatAGATCGAGACCCGACGC chr12:121907849-Variant-A;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Variant A ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GATATCGCTACA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgatatcgctacaAGATCGAGACCCGACGC chr12:121907849-Variant-A;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Variant A ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct ACCGACCTATAA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAaccgacctataaAGATCGAGACCCGACGC chr12:121907849-Variant-A;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Alternative T ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct AGAGCTCCGAAC CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgTagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAagagctccgaacAGATCGAGACCCGACGC chr12:121907849-Alternative-T;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Reference G ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GTGCGGTCGTTA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgtgcggtcgttaAGATCGAGACCCGACGC chr12:121907849-Reference-G;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Variant A ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct CATCGGAGTATT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgAagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAcatcggagtattAGATCGAGACCCGACGC chr12:121907849-Variant-A;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Reference G ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GTTGTAACGTCT CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgttgtaacgtctAGATCGAGACCCGACGC chr12:121907849-Reference-G;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Reference G ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct CAAGGACCGTCA CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAcaaggaccgtcaAGATCGAGACCCGACGC chr12:121907849-Reference-G;Patient-36 chr12:121907849-GA DeNovo Patient-36 intronic KDM2B NA 4.95e-05 -0.08 1.6 0.2 RNF34 69962 Reference G ctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtct GTAATAACGTGG CGACGCGGTCTCTCTCTctgaggcacaagaatcacttgaacccagcaggcagaggttgcagtgggcgGagatcgtgccactgccctccagcctgggcaacagagtgatattctgtctAGAGGGAGACGGACGTCTCAATAAgtaataacgtggAGATCGAGACCCGACGC chr12:121907849-Reference-G;Patient-36 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative G ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcct AAGTTGGATCGA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAaagttggatcgaAGATCGAGACCCGACGC chr12:122247303-Alternative-G;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative G ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcct ATCATGCTTCGT CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAatcatgcttcgtAGATCGAGACCCGACGC chr12:122247303-Alternative-G;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative A ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GCATGCGAATCG CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgcatgcgaatcgAGATCGAGACCCGACGC chr12:122247303-Alternative-A;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative A ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcct ATCAACGCCGTC CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAatcaacgccgtcAGATCGAGACCCGACGC chr12:122247303-Alternative-A;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative A ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GCGAATAACGGC CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgcgaataacggcAGATCGAGACCCGACGC chr12:122247303-Alternative-A;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Reference T ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcct AACCGATTACGT CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAaaccgattacgtAGATCGAGACCCGACGC chr12:122247303-Reference-T;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative A ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GTCATGGCGCAA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgtcatggcgcaaAGATCGAGACCCGACGC chr12:122247303-Alternative-A;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative G ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GCGAAGATACGG CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgcgaagatacggAGATCGAGACCCGACGC chr12:122247303-Alternative-G;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Reference T ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GCGCGCATATTA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgcgcgcatattaAGATCGAGACCCGACGC chr12:122247303-Reference-T;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative G ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GATCGCATGTAA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgatcgcatgtaaAGATCGAGACCCGACGC chr12:122247303-Alternative-G;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Reference T ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GACTGGAATCAT CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgactggaatcatAGATCGAGACCCGACGC chr12:122247303-Reference-T;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Reference T ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcct AGGTTACTGCGC CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAaggttactgcgcAGATCGAGACCCGACGC chr12:122247303-Reference-T;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative A ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcct AGTCAGAAGCGG CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccAgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAagtcagaagcggAGATCGAGACCCGACGC chr12:122247303-Alternative-A;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Reference T ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcct CTGGTAACGTGA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccTgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAActggtaacgtgaAGATCGAGACCCGACGC chr12:122247303-Reference-T;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Alternative G ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcct ATCCGTGTAAGT CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccGgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAatccgtgtaagtAGATCGAGACCCGACGC chr12:122247303-Alternative-G;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Variant C ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcct CGAGATATGCGC CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAcgagatatgcgcAGATCGAGACCCGACGC chr12:122247303-Variant-C;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Variant C ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcct AGTGATAAGTCG CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAagtgataagtcgAGATCGAGACCCGACGC chr12:122247303-Variant-C;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Variant C ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GTATCCTAGTCT CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgtatcctagtctAGATCGAGACCCGACGC chr12:122247303-Variant-C;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Variant C ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcct GCCAGGCGTATA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAAgccaggcgtataAGATCGAGACCCGACGC chr12:122247303-Variant-C;Patient-93 chr12:122247303-TC Inherited Patient-93 intronic SETD1B 0.000573 0.00109 0.22 6.07 0.7 SETD1B 4664 Variant C ttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcct CTGCGAACGTCA CGACGCGGTCTCTCTCTttcttttttctctgcctcctctggaattaggaatgaccctcaaggttcccCgaacatatttggctacccctaagattagagaaaaagttagtaccatcctAGAGGGAGACGGACGTCTCAATAActgcgaacgtcaAGATCGAGACCCGACGC chr12:122247303-Variant-C;Patient-93 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Variant G ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattca CTCGGTCGTCTA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAActcggtcgtctaAGATCGAGACCCGACGC chr12:122651494-Variant-G;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Variant G ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattca AGCCTGCGCTAA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAagcctgcgctaaAGATCGAGACCCGACGC chr12:122651494-Variant-G;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Variant G ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattca CGAGACATGGTT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAcgagacatggttAGATCGAGACCCGACGC chr12:122651494-Variant-G;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Reference C ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattca ATCGACGTACGT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAatcgacgtacgtAGATCGAGACCCGACGC chr12:122651494-Reference-C;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Reference C ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattca GGTTCGAGTACC CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAggttcgagtaccAGATCGAGACCCGACGC chr12:122651494-Reference-C;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Variant G ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattca ACAAGCGTACAT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAacaagcgtacatAGATCGAGACCCGACGC chr12:122651494-Variant-G;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Variant G ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattca GCACGTCCTATC CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcGaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAgcacgtcctatcAGATCGAGACCCGACGC chr12:122651494-Variant-G;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Reference C ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattca AGTACTCGCGCT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAagtactcgcgctAGATCGAGACCCGACGC chr12:122651494-Reference-C;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Reference C ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattca GTTAATCCGCGT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAgttaatccgcgtAGATCGAGACCCGACGC chr12:122651494-Reference-C;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Reference C ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattca GTGGCGGTCAAT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcCaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAgtggcggtcaatAGATCGAGACCCGACGC chr12:122651494-Reference-C;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative A ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattca CGCCTAGTCTGA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAcgcctagtctgaAGATCGAGACCCGACGC chr12:122651494-Alternative-A;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative T ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattca GCATAGTTGGAA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAgcatagttggaaAGATCGAGACCCGACGC chr12:122651494-Alternative-T;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative A ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattca CTACCGGCAGAT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAActaccggcagatAGATCGAGACCCGACGC chr12:122651494-Alternative-A;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative T ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattca ACACAGCATTGT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAacacagcattgtAGATCGAGACCCGACGC chr12:122651494-Alternative-T;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative T ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattca GGCCGCTATTGA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAggccgctattgaAGATCGAGACCCGACGC chr12:122651494-Alternative-T;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative A ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattca AGCGCACGAATT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAagcgcacgaattAGATCGAGACCCGACGC chr12:122651494-Alternative-A;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative T ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattca AGATGCTGAACA CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAagatgctgaacaAGATCGAGACCCGACGC chr12:122651494-Alternative-T;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative A ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattca AGCGCTCGATAC CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAagcgctcgatacAGATCGAGACCCGACGC chr12:122651494-Alternative-A;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative T ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattca GTATTAAGCGGT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcTaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAgtattaagcggtAGATCGAGACCCGACGC chr12:122651494-Alternative-T;Patient-49 chr12:122651494-CG DeNovo Patient-49 intergenic 9.6e-05 0.000513 -0.33 0.29 -2.96 DIABLO 60586 Alternative A ggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattca ATCACGGTAACT CGACGCGGTCTCTCTCTggctgagcctgcgctagatctgcgggagctccttggtcaatccatcaatcAaatagcattaaatgactcttctggcagattggatcagaatgggaattcaAGAGGGAGACGGACGTCTCAATAAatcacggtaactAGATCGAGACCCGACGC chr12:122651494-Alternative-A;Patient-49 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Variant T ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag AGCTATGGCGAT CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAagctatggcgatAGATCGAGACCCGACGC chr12:122871484-Variant-T;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Variant T ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag ATTCTGCGGCAG CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAattctgcggcagAGATCGAGACCCGACGC chr12:122871484-Variant-T;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative A ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag ACAGCAACCACG CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAacagcaaccacgAGATCGAGACCCGACGC chr12:122871484-Alternative-A;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Variant T ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag ATCTGCCGACAC CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAatctgccgacacAGATCGAGACCCGACGC chr12:122871484-Variant-T;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Variant T ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag ACAATAGGTCGA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAacaataggtcgaAGATCGAGACCCGACGC chr12:122871484-Variant-T;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative A ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CGGCTAACTCAA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAcggctaactcaaAGATCGAGACCCGACGC chr12:122871484-Alternative-A;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative A ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CTAGCTAACGAG CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAActagctaacgagAGATCGAGACCCGACGC chr12:122871484-Alternative-A;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative A ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GGTGGTATCAGG CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAggtggtatcaggAGATCGAGACCCGACGC chr12:122871484-Alternative-A;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative A ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CTCGTCCGGATA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagAtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAActcgtccggataAGATCGAGACCCGACGC chr12:122871484-Alternative-A;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Reference C ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag AGCAGTGAACAG CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAagcagtgaacagAGATCGAGACCCGACGC chr12:122871484-Reference-C;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Variant T ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GGTGGAGTTCGA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagTtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAggtggagttcgaAGATCGAGACCCGACGC chr12:122871484-Variant-T;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative G ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag ACCACACGATCA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAaccacacgatcaAGATCGAGACCCGACGC chr12:122871484-Alternative-G;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Reference C ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CGCGAGAAGCAT CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAcgcgagaagcatAGATCGAGACCCGACGC chr12:122871484-Reference-C;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative G ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GGTAGAGCGGTT CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAggtagagcggttAGATCGAGACCCGACGC chr12:122871484-Alternative-G;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative G ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CAGGTCTGTCAA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAcaggtctgtcaaAGATCGAGACCCGACGC chr12:122871484-Alternative-G;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative G ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GATCAATGGCTT CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAgatcaatggcttAGATCGAGACCCGACGC chr12:122871484-Alternative-G;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Reference C ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag AAGGTAGAACGA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAaaggtagaacgaAGATCGAGACCCGACGC chr12:122871484-Reference-C;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Reference C ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GCGTATGCCGAA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAgcgtatgccgaaAGATCGAGACCCGACGC chr12:122871484-Reference-C;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Reference C ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag GATACGCAGATA CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagCtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAAgatacgcagataAGATCGAGACCCGACGC chr12:122871484-Reference-C;Patient-55 chr12:122871484-CT Inherited Patient-55 intronic CLIP1 0.000191 0.00016 0.23 6.24 0.16 CLIP1 35631 Alternative G ccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaag CTACGAGTATGT CGACGCGGTCTCTCTCTccaatcgtgacttggtttttttaagatagggtcttgccctgttgctcaagGtggagtgcagtagcacgatcacagttcactgcagcctctaactcccaagAGAGGGAGACGGACGTCTCAATAActacgagtatgtAGATCGAGACCCGACGC chr12:122871484-Alternative-G;Patient-55 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Reference C caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CAGCAAGTGATA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAcagcaagtgataAGATCGAGACCCGACGC chr12:123091011-Reference-C;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Reference C caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ACTCTTAGAGCA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAactcttagagcaAGATCGAGACCCGACGC chr12:123091011-Reference-C;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative A caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AAGTATTGCGTC CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAaagtattgcgtcAGATCGAGACCCGACGC chr12:123091011-Alternative-A;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Reference C caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AATCTCGTAGGT CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAaatctcgtaggtAGATCGAGACCCGACGC chr12:123091011-Reference-C;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Reference C caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ACATATGCTCCT CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAacatatgctcctAGATCGAGACCCGACGC chr12:123091011-Reference-C;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative A caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AACTACGGACTA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAaactacggactaAGATCGAGACCCGACGC chr12:123091011-Alternative-A;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative A caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ATTCTATAGCGG CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAattctatagcggAGATCGAGACCCGACGC chr12:123091011-Alternative-A;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative A caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AGCTATAATCGG CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAagctataatcggAGATCGAGACCCGACGC chr12:123091011-Alternative-A;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Reference C caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CAGTTACCGGCA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccCgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAcagttaccggcaAGATCGAGACCCGACGC chr12:123091011-Reference-C;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative A caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ATCGCTAAGCGG CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccAgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAatcgctaagcggAGATCGAGACCCGACGC chr12:123091011-Alternative-A;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative G caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AAGAATGGACCG CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAaagaatggaccgAGATCGAGACCCGACGC chr12:123091011-Alternative-G;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative G caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct AGTCGTATCCAA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAagtcgtatccaaAGATCGAGACCCGACGC chr12:123091011-Alternative-G;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Variant T caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ACGACACGCCAA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAacgacacgccaaAGATCGAGACCCGACGC chr12:123091011-Variant-T;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative G caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CTTGATTACGCT CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAActtgattacgctAGATCGAGACCCGACGC chr12:123091011-Alternative-G;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative G caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct GGAACGATATGT CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAggaacgatatgtAGATCGAGACCCGACGC chr12:123091011-Alternative-G;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Variant T caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CTGAAGGACATA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAActgaaggacataAGATCGAGACCCGACGC chr12:123091011-Variant-T;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Variant T caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CTCAATCGTATC CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAActcaatcgtatcAGATCGAGACCCGACGC chr12:123091011-Variant-T;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Variant T caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct CATTGAGTATCG CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAcattgagtatcgAGATCGAGACCCGACGC chr12:123091011-Variant-T;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Alternative G caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct ACACCAATTCCA CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccGgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAacaccaattccaAGATCGAGACCCGACGC chr12:123091011-Alternative-G;Patient-39 chr12:123091011-CT DeNovo Patient-39 intronic KNTC1 0.00016 4.95e-05 -0.33 0.3 -0.64 KNTC1 79201 Variant T caccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcct GAATCGTCTAGT CGACGCGGTCTCTCTCTcaccatgttggccaagctggtcttgaactcccgacctcaggtgatccgccTgccttggcctcccaaagtgttgggattacagacatgagccaccacgcctAGAGGGAGACGGACGTCTCAATAAgaatcgtctagtAGATCGAGACCCGACGC chr12:123091011-Variant-T;Patient-39 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative G cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca AGCAGTCAGTAT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAagcagtcagtatAGATCGAGACCCGACGC chr12:123128671-Alternative-G;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative G cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca ACCTTCTGTCTT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAaccttctgtcttAGATCGAGACCCGACGC chr12:123128671-Alternative-G;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative G cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca ATACCGTCTATC CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAataccgtctatcAGATCGAGACCCGACGC chr12:123128671-Alternative-G;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative G cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca CAACTCTAACCA CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAcaactctaaccaAGATCGAGACCCGACGC chr12:123128671-Alternative-G;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Variant A cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca ATAGCTGCGGAG CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAatagctgcggagAGATCGAGACCCGACGC chr12:123128671-Variant-A;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Variant A cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GTGAACGTAGGT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgtgaacgtaggtAGATCGAGACCCGACGC chr12:123128671-Variant-A;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative C cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca CTTAACCTTCGA CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAActtaaccttcgaAGATCGAGACCCGACGC chr12:123128671-Alternative-C;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative C cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GTGTAGGTGTAA CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgtgtaggtgtaaAGATCGAGACCCGACGC chr12:123128671-Alternative-C;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Variant A cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GTAGGTAGAGGT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgtaggtagaggtAGATCGAGACCCGACGC chr12:123128671-Variant-A;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Variant A cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca CGTGTCGTTGAG CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAcgtgtcgttgagAGATCGAGACCCGACGC chr12:123128671-Variant-A;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative C cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca CTAGTTGATGGT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAActagttgatggtAGATCGAGACCCGACGC chr12:123128671-Alternative-C;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Variant A cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GGAGTATGTGAT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacAccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAggagtatgtgatAGATCGAGACCCGACGC chr12:123128671-Variant-A;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative C cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca AACTTGATGCCT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAaacttgatgcctAGATCGAGACCCGACGC chr12:123128671-Alternative-C;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative C cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca CTAATCGCGTAA CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacCccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAActaatcgcgtaaAGATCGAGACCCGACGC chr12:123128671-Alternative-C;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Reference T cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GACGTTGTGTGC CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgacgttgtgtgcAGATCGAGACCCGACGC chr12:123128671-Reference-T;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Reference T cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GTACGCGTCAGA CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgtacgcgtcagaAGATCGAGACCCGACGC chr12:123128671-Reference-T;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Reference T cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca AGGCTCAACAAC CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAaggctcaacaacAGATCGAGACCCGACGC chr12:123128671-Reference-T;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Reference T cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca AGTCTCTGAGAT CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAagtctctgagatAGATCGAGACCCGACGC chr12:123128671-Reference-T;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Reference T cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca GTACACTCGGAC CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacTccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAgtacactcggacAGATCGAGACCCGACGC chr12:123128671-Reference-T;Patient-30 chr12:123128671-TA Inherited Patient-30 intergenic NA 0.000513 NA NA NA HCAR2 59232 Alternative G cctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagcccca ACGTACTCGTGG CGACGCGGTCTCTCTCTcctgctgctcaaacctctagaagagcatacagacgggcaggctgtgggacGccaaccccacggcagcgtctaggggtgagtgtttatagctgaagccccaAGAGGGAGACGGACGTCTCAATAAacgtactcgtggAGATCGAGACCCGACGC chr12:123128671-Alternative-G;Patient-30 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative G ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CAAGATGGAACG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAcaagatggaacgAGATCGAGACCCGACGC chr12:124183296-Alternative-G;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative G ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AGCGTGTGTCGA CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAagcgtgtgtcgaAGATCGAGACCCGACGC chr12:124183296-Alternative-G;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative G ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CGCTGTATCAAT CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAcgctgtatcaatAGATCGAGACCCGACGC chr12:124183296-Alternative-G;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Reference C ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AGGACGTACGAC CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAaggacgtacgacAGATCGAGACCCGACGC chr12:124183296-Reference-C;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Variant T ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga ACTGCTAGATCA CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAactgctagatcaAGATCGAGACCCGACGC chr12:124183296-Variant-T;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative A ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga ACCTCGGCTTGT CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAacctcggcttgtAGATCGAGACCCGACGC chr12:124183296-Alternative-A;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Reference C ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CTCGCGTTCTGT CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAActcgcgttctgtAGATCGAGACCCGACGC chr12:124183296-Reference-C;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Variant T ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CGAACGTCAAGA CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAcgaacgtcaagaAGATCGAGACCCGACGC chr12:124183296-Variant-T;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Variant T ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga ACATAGACGCTT CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAacatagacgcttAGATCGAGACCCGACGC chr12:124183296-Variant-T;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Reference C ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AATAACGCAACG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAaataacgcaacgAGATCGAGACCCGACGC chr12:124183296-Reference-C;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Variant T ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga GGCTGATCGTTC CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAggctgatcgttcAGATCGAGACCCGACGC chr12:124183296-Variant-T;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative A ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CTATGTTCGCGC CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAActatgttcgcgcAGATCGAGACCCGACGC chr12:124183296-Alternative-A;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative G ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga GCAGGTTGCAAG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAgcaggttgcaagAGATCGAGACCCGACGC chr12:124183296-Alternative-G;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative G ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga ATTACTCGCGCG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaGgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAattactcgcgcgAGATCGAGACCCGACGC chr12:124183296-Alternative-G;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Reference C ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AAGTGACGGACA CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAaagtgacggacaAGATCGAGACCCGACGC chr12:124183296-Reference-C;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative A ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AAGGCTAAGAAG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAaaggctaagaagAGATCGAGACCCGACGC chr12:124183296-Alternative-A;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative A ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CTAGTAATTCGG CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAActagtaattcggAGATCGAGACCCGACGC chr12:124183296-Alternative-A;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Alternative A ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga GTACACCATCTA CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaAgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAgtacaccatctaAGATCGAGACCCGACGC chr12:124183296-Alternative-A;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Variant T ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga AGTCCGGTTCAC CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaTgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAagtccggttcacAGATCGAGACCCGACGC chr12:124183296-Variant-T;Patient-39 chr12:124183296-CT DeNovo Patient-39 intronic TCTN2 0.000191 4.95e-05 0.03 3.02 -0.41 TCTN2 27635 Reference C ggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcagga CAGGAGACACAT CGACGCGGTCTCTCTCTggggttacaagcatgaaccattatgcccggcctgcatgcactcttacacaCgttttatctgttacatatcccaagatgtgtagttctttgggaagcaggaAGAGGGAGACGGACGTCTCAATAAcaggagacacatAGATCGAGACCCGACGC chr12:124183296-Reference-C;Patient-39 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative A cattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctagg ACGTGATAGACA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAacgtgatagacaAGATCGAGACCCGACGC chr12:124201444-Alternative-A;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative A cattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CTCTTGCGACAC CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAActcttgcgacacAGATCGAGACCCGACGC chr12:124201444-Alternative-A;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative A cattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CTTAACCATGAG CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAActtaaccatgagAGATCGAGACCCGACGC chr12:124201444-Alternative-A;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative A cattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GGAGATGTGTTA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAggagatgtgttaAGATCGAGACCCGACGC chr12:124201444-Alternative-A;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Variant C cattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GTTGTACGCCTA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgttgtacgcctaAGATCGAGACCCGACGC chr12:124201444-Variant-C;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Variant C cattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctagg ATCGGACGCTGT CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAatcggacgctgtAGATCGAGACCCGACGC chr12:124201444-Variant-C;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative A cattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GTATTCACCAAG CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaAtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgtattcaccaagAGATCGAGACCCGACGC chr12:124201444-Alternative-A;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Reference T cattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GCGTGATCAAGG CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgcgtgatcaaggAGATCGAGACCCGACGC chr12:124201444-Reference-T;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Reference T cattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctagg AGGTTGATGACA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAaggttgatgacaAGATCGAGACCCGACGC chr12:124201444-Reference-T;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Variant C cattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CGGACGAGTCAT CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAcggacgagtcatAGATCGAGACCCGACGC chr12:124201444-Variant-C;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Reference T cattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctagg AATGGCGAATCA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAaatggcgaatcaAGATCGAGACCCGACGC chr12:124201444-Reference-T;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Variant C cattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctagg ACTTCAATGTGG CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAacttcaatgtggAGATCGAGACCCGACGC chr12:124201444-Variant-C;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Variant C cattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CGAACGCGTCAA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaCtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAcgaacgcgtcaaAGATCGAGACCCGACGC chr12:124201444-Variant-C;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Reference T cattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GTATCACTTCCA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgtatcacttccaAGATCGAGACCCGACGC chr12:124201444-Reference-T;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Reference T cattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GCCGTATGTCCT CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaTtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgccgtatgtcctAGATCGAGACCCGACGC chr12:124201444-Reference-T;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative G cattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctagg ATTACGCTCGAA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAattacgctcgaaAGATCGAGACCCGACGC chr12:124201444-Alternative-G;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative G cattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CTGGTTCATCTA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAActggttcatctaAGATCGAGACCCGACGC chr12:124201444-Alternative-G;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative G cattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GACGCTCAAGTC CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgacgctcaagtcAGATCGAGACCCGACGC chr12:124201444-Alternative-G;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative G cattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctagg GCGTTCGCGTTA CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAgcgttcgcgttaAGATCGAGACCCGACGC chr12:124201444-Alternative-G;Patient-68 chr12:124201444-TC DeNovo Patient-68 intronic ATP6V0A2 NA 8.38e-05 0.18 5.56 0.43 ATP6V0A2 4578 Alternative G cattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctagg CGACATCATACT CGACGCGGTCTCTCTCTcattccatcaccccagaagattcttaatgctcatttacagttaatccttaGtcctacccccacccccccagcacccactaatctgcttgctgcctctaggAGAGGGAGACGGACGTCTCAATAAcgacatcatactAGATCGAGACCCGACGC chr12:124201444-Alternative-G;Patient-68 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative G gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc CGTTAGCGGCTT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAcgttagcggcttAGATCGAGACCCGACGC chr12:130552524-Alternative-G;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative G gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GCGGCATCTAAT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgcggcatctaatAGATCGAGACCCGACGC chr12:130552524-Alternative-G;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative A gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GTCTAGCCGTGT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgtctagccgtgtAGATCGAGACCCGACGC chr12:130552524-Alternative-A;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative G gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ACCAACGTTAGG CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAaccaacgttaggAGATCGAGACCCGACGC chr12:130552524-Alternative-G;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Variant T gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GAGACTGTGGAC CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgagactgtggacAGATCGAGACCCGACGC chr12:130552524-Variant-T;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative A gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc AGCGGCGAGTTA CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAagcggcgagttaAGATCGAGACCCGACGC chr12:130552524-Alternative-A;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Reference C gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GCGATGGACGTT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgcgatggacgttAGATCGAGACCCGACGC chr12:130552524-Reference-C;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative G gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc CTCACGAATTGA CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAActcacgaattgaAGATCGAGACCCGACGC chr12:130552524-Alternative-G;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative A gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GCCGAATCATAA CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgccgaatcataaAGATCGAGACCCGACGC chr12:130552524-Alternative-A;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Reference C gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ACGGCGCGATAA CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAacggcgcgataaAGATCGAGACCCGACGC chr12:130552524-Reference-C;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative G gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ACCAAGCAGTAA CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctGgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAaccaagcagtaaAGATCGAGACCCGACGC chr12:130552524-Alternative-G;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Reference C gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc AGTGTTGCGGAC CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAagtgttgcggacAGATCGAGACCCGACGC chr12:130552524-Reference-C;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative A gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ATCGGACGAACC CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAatcggacgaaccAGATCGAGACCCGACGC chr12:130552524-Alternative-A;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Reference C gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ACGATGTCGTCG CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAacgatgtcgtcgAGATCGAGACCCGACGC chr12:130552524-Reference-C;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Alternative A gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc CTGGCGAACGAT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctAgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAActggcgaacgatAGATCGAGACCCGACGC chr12:130552524-Alternative-A;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Variant T gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc CTATGGATGCAG CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAActatggatgcagAGATCGAGACCCGACGC chr12:130552524-Variant-T;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Variant T gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc GTCAAGCTGCGT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAgtcaagctgcgtAGATCGAGACCCGACGC chr12:130552524-Variant-T;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Variant T gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc CTTGTACGACGG CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAActtgtacgacggAGATCGAGACCCGACGC chr12:130552524-Variant-T;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Variant T gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc AGCGTCGTACGT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctTgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAagcgtcgtacgtAGATCGAGACCCGACGC chr12:130552524-Variant-T;Patient-16 chr12:130552524-CT DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.2 0.74 -0.12 FZD10 94479 Reference C gaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatc ACCTGATTACCT CGACGCGGTCTCTCTCTgaggagacaaacactcaaaccgtagcactgggcttctcactcagcctcctCgaacctgcttcaacccacatcttcacaacagggaaagacggtgtacatcAGAGGGAGACGGACGTCTCAATAAacctgattacctAGATCGAGACCCGACGC chr12:130552524-Reference-C;Patient-16 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Variant A aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggt AGAGCATGGCGA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAagagcatggcgaAGATCGAGACCCGACGC chr12:130614222-Variant-A;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative C aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CTATCAACCAAG CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAActatcaaccaagAGATCGAGACCCGACGC chr12:130614222-Alternative-C;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative C aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CAACGTAGTACT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAcaacgtagtactAGATCGAGACCCGACGC chr12:130614222-Alternative-C;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Variant A aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CTGCTTCGCTTC CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAActgcttcgcttcAGATCGAGACCCGACGC chr12:130614222-Variant-A;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative C aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CGTCAGTACCTT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAcgtcagtaccttAGATCGAGACCCGACGC chr12:130614222-Alternative-C;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Variant A aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GAGCCTAACAAT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAgagcctaacaatAGATCGAGACCCGACGC chr12:130614222-Variant-A;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative C aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GGCACGTTGCAT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAggcacgttgcatAGATCGAGACCCGACGC chr12:130614222-Alternative-C;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative C aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggt ACCGGTTCAATA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgCccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAaccggttcaataAGATCGAGACCCGACGC chr12:130614222-Alternative-C;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Variant A aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggt AACGGCTAGTGG CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAaacggctagtggAGATCGAGACCCGACGC chr12:130614222-Variant-A;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Variant A aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CACAGCGTTCCT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgAccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAcacagcgttcctAGATCGAGACCCGACGC chr12:130614222-Variant-A;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative T aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GCGTGCGAGTTA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAgcgtgcgagttaAGATCGAGACCCGACGC chr12:130614222-Alternative-T;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Reference G aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GGTACGCTGACT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAggtacgctgactAGATCGAGACCCGACGC chr12:130614222-Reference-G;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Reference G aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggt ACACCTACCAGA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAacacctaccagaAGATCGAGACCCGACGC chr12:130614222-Reference-G;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative T aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggt AGCAGGTGGTAA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAagcaggtggtaaAGATCGAGACCCGACGC chr12:130614222-Alternative-T;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Reference G aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GCGACAACGCTT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAgcgacaacgcttAGATCGAGACCCGACGC chr12:130614222-Reference-G;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative T aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggt AACGAGTCTATC CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAaacgagtctatcAGATCGAGACCCGACGC chr12:130614222-Alternative-T;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Reference G aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggt AGGCTAGCACGA CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAaggctagcacgaAGATCGAGACCCGACGC chr12:130614222-Reference-G;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative T aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggt GAATCGTTAAGG CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAgaatcgttaaggAGATCGAGACCCGACGC chr12:130614222-Alternative-T;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Reference G aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CGGTACATCAGT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgGccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAcggtacatcagtAGATCGAGACCCGACGC chr12:130614222-Reference-G;Patient-93 chr12:130614222-GA DeNovo Patient-93 intergenic NA 0.000513 -0.05 1.96 -0.17 FZD10 32781 Alternative T aagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggt CAAGTCTCTTGT CGACGCGGTCTCTCTCTaagcgtctttgaggtgacttactcaacgcccctgaaagttttcatatgtgTccttaagtataatggagcatcactacaagtggtcagatggacctaaggtAGAGGGAGACGGACGTCTCAATAAcaagtctcttgtAGATCGAGACCCGACGC chr12:130614222-Alternative-T;Patient-93 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative C agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt AGTAGTGACGAG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAagtagtgacgagAGATCGAGACCCGACGC chr12:130745524-Alternative-C;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative G agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt ATAGCACGCCTT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAatagcacgccttAGATCGAGACCCGACGC chr12:130745524-Alternative-G;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative C agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt AGAATAATCGGC CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAagaataatcggcAGATCGAGACCCGACGC chr12:130745524-Alternative-C;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Variant T agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt AAGCGTTGGTCG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAaagcgttggtcgAGATCGAGACCCGACGC chr12:130745524-Variant-T;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative G agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt CGAACATGACGC CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAcgaacatgacgcAGATCGAGACCCGACGC chr12:130745524-Alternative-G;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative C agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt ATTGCGTCCACG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAattgcgtccacgAGATCGAGACCCGACGC chr12:130745524-Alternative-C;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Variant T agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt AGGCTTGTTGCG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAaggcttgttgcgAGATCGAGACCCGACGC chr12:130745524-Variant-T;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative G agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt AACACCTATACG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAaacacctatacgAGATCGAGACCCGACGC chr12:130745524-Alternative-G;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Reference A agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GGTAGTACGCGT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAggtagtacgcgtAGATCGAGACCCGACGC chr12:130745524-Reference-A;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative C agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GTCTAGCGCTGT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgtctagcgctgtAGATCGAGACCCGACGC chr12:130745524-Alternative-C;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Variant T agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt ACACAGCTAACG CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAacacagctaacgAGATCGAGACCCGACGC chr12:130745524-Variant-T;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative G agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GGAACACGGATA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAggaacacggataAGATCGAGACCCGACGC chr12:130745524-Alternative-G;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative G agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GAGATGATCAGT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagGgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgagatgatcagtAGATCGAGACCCGACGC chr12:130745524-Alternative-G;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Reference A agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GACATAAGGCTA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgacataaggctaAGATCGAGACCCGACGC chr12:130745524-Reference-A;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Reference A agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GTCAACGTAACA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgtcaacgtaacaAGATCGAGACCCGACGC chr12:130745524-Reference-A;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Alternative C agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt CTGAGAGTATGA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagCgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAActgagagtatgaAGATCGAGACCCGACGC chr12:130745524-Alternative-C;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Variant T agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GAATTGATCCGA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgaattgatccgaAGATCGAGACCCGACGC chr12:130745524-Variant-T;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Reference A agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GTGTCACGTGGT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgtgtcacgtggtAGATCGAGACCCGACGC chr12:130745524-Reference-A;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Variant T agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt GTGCTCACGCTT CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagTgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAgtgctcacgcttAGATCGAGACCCGACGC chr12:130745524-Variant-T;Patient-19 chr12:130745524-AT DeNovo Patient-19 intergenic 0.000128 0.000513 0.07 3.81 1.16 FZD10 98519 Reference A agccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagt ACCGAACACCTA CGACGCGGTCTCTCTCTagccaccacacctggccagtaaagtttcttttaaaaggcagccttgtaagAgttttagcacaagcttttcttggcctccttttcttgaccggcgtgaagtAGAGGGAGACGGACGTCTCAATAAaccgaacacctaAGATCGAGACCCGACGC chr12:130745524-Reference-A;Patient-19 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative G tctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GCCGTATCGCAT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgccgtatcgcatAGATCGAGACCCGACGC chr12:131273752-Alternative-G;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Variant A tctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GATGAACCGTTA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgatgaaccgttaAGATCGAGACCCGACGC chr12:131273752-Variant-A;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Reference T tctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GTTAGAGCGACG CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgttagagcgacgAGATCGAGACCCGACGC chr12:131273752-Reference-T;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative G tctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GTACTTAACCAC CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgtacttaaccacAGATCGAGACCCGACGC chr12:131273752-Alternative-G;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Reference T tctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CAATTGCCTTGT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAcaattgccttgtAGATCGAGACCCGACGC chr12:131273752-Reference-T;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative G tctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc ATCCGTCGAGCA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAatccgtcgagcaAGATCGAGACCCGACGC chr12:131273752-Alternative-G;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative G tctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CTAGCGGTGGAT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAActagcggtggatAGATCGAGACCCGACGC chr12:131273752-Alternative-G;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative C tctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GACGGTATTGAA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgacggtattgaaAGATCGAGACCCGACGC chr12:131273752-Alternative-C;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Reference T tctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc AACACGTCAGCT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAaacacgtcagctAGATCGAGACCCGACGC chr12:131273752-Reference-T;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Variant A tctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc ATAGCGGATGAT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAatagcggatgatAGATCGAGACCCGACGC chr12:131273752-Variant-A;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Reference T tctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc AAGCGGTTGTAA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAaagcggttgtaaAGATCGAGACCCGACGC chr12:131273752-Reference-T;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Reference T tctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CATCGTTCATAC CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttTtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAcatcgttcatacAGATCGAGACCCGACGC chr12:131273752-Reference-T;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative C tctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GACTGAACCTAA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAgactgaacctaaAGATCGAGACCCGACGC chr12:131273752-Alternative-C;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Variant A tctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CTGAAGCGATCG CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAActgaagcgatcgAGATCGAGACCCGACGC chr12:131273752-Variant-A;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Variant A tctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CATTACGTGCGC CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAcattacgtgcgcAGATCGAGACCCGACGC chr12:131273752-Variant-A;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Variant A tctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc ACCGGATGTTAT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttAtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAaccggatgttatAGATCGAGACCCGACGC chr12:131273752-Variant-A;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative C tctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GGACTTCGGTGT CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAggacttcggtgtAGATCGAGACCCGACGC chr12:131273752-Alternative-C;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative C tctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc GGATGGAGTACC CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAggatggagtaccAGATCGAGACCCGACGC chr12:131273752-Alternative-C;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative C tctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc AGATAACGGCGA CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttCtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAagataacggcgaAGATCGAGACCCGACGC chr12:131273752-Alternative-C;Patient-54 chr12:131273752-TA Inherited Patient-54 intergenic 9.6e-05 0.000513 -0.27 0.45 0.24 STX2 50066 Alternative G tctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattc CAACAACTAACC CGACGCGGTCTCTCTCTtctagggctctgtctccatgaattagttttctccagttctatcttctcttGtttttcaatagtggttttcaactgtcactttccaatatgatcagaattcAGAGGGAGACGGACGTCTCAATAAcaacaactaaccAGATCGAGACCCGACGC chr12:131273752-Alternative-G;Patient-54 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Variant G atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGGATGACCACA CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcggatgaccacaAGATCGAGACCCGACGC chr12:131277363-Variant-G;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Variant G atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacac AGTGCTTGCGCT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAagtgcttgcgctAGATCGAGACCCGACGC chr12:131277363-Variant-G;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Reference A atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacac GACAAGGTAACA CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAgacaaggtaacaAGATCGAGACCCGACGC chr12:131277363-Reference-A;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative T atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacac AGTGTATTCACG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAagtgtattcacgAGATCGAGACCCGACGC chr12:131277363-Alternative-T;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Reference A atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CACGCGATACAG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcacgcgatacagAGATCGAGACCCGACGC chr12:131277363-Reference-A;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Variant G atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CTGCTACTCGAC CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAActgctactcgacAGATCGAGACCCGACGC chr12:131277363-Variant-G;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative T atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGAAGTTATCGG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcgaagttatcggAGATCGAGACCCGACGC chr12:131277363-Alternative-T;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative C atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGTCGCCGTTAT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcgtcgccgttatAGATCGAGACCCGACGC chr12:131277363-Alternative-C;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Variant G atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CTCACGTACATT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAActcacgtacattAGATCGAGACCCGACGC chr12:131277363-Variant-G;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative T atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacac GACGTTATTACG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAgacgttattacgAGATCGAGACCCGACGC chr12:131277363-Alternative-T;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Variant G atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGTACACGTATA CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacGttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcgtacacgtataAGATCGAGACCCGACGC chr12:131277363-Variant-G;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative C atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacac ATAGGACCGATA CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAataggaccgataAGATCGAGACCCGACGC chr12:131277363-Alternative-C;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative T atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacac GCGATATCAAGT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAgcgatatcaagtAGATCGAGACCCGACGC chr12:131277363-Alternative-T;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative T atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CACTATATGCGG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacTttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcactatatgcggAGATCGAGACCCGACGC chr12:131277363-Alternative-T;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Reference A atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CTCTACAGCTGT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAActctacagctgtAGATCGAGACCCGACGC chr12:131277363-Reference-A;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative C atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacac ACGTTGGTATCA CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAacgttggtatcaAGATCGAGACCCGACGC chr12:131277363-Alternative-C;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Reference A atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGAATATGTACG CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcgaatatgtacgAGATCGAGACCCGACGC chr12:131277363-Reference-A;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative C atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacac GGTGACGAGCAT CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAggtgacgagcatAGATCGAGACCCGACGC chr12:131277363-Alternative-C;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Alternative C atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacac ATTCCTGATTGC CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacCttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAattcctgattgcAGATCGAGACCCGACGC chr12:131277363-Alternative-C;Patient-4 chr12:131277363-AG DeNovo Patient-4 intronic STX2 NA 4.95e-05 -0.24 0.55 -2.75 STX2 46455 Reference A atccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacac CGACTCTTACAC CGACGCGGTCTCTCTCTatccattttttacatttaaatatgacaaatgtgtaagaaatcaacaagacAttcattcattcttctactgcactgatggtctggaagcagggtgcgacacAGAGGGAGACGGACGTCTCAATAAcgactcttacacAGATCGAGACCCGACGC chr12:131277363-Reference-A;Patient-4 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative C gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CGCGGTCATGAA CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcgcggtcatgaaAGATCGAGACCCGACGC chr12:131414092-Alternative-C;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative C gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CAGTAGAGGATT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcagtagaggattAGATCGAGACCCGACGC chr12:131414092-Alternative-C;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative C gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CTAACCGATTGT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAActaaccgattgtAGATCGAGACCCGACGC chr12:131414092-Alternative-C;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative C gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GCGGAGAGTAGT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAgcggagagtagtAGATCGAGACCCGACGC chr12:131414092-Alternative-C;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative T gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga ATCGAACCGCAT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAatcgaaccgcatAGATCGAGACCCGACGC chr12:131414092-Alternative-T;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative C gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga ATCGTTCTTGCA CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacCtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAatcgttcttgcaAGATCGAGACCCGACGC chr12:131414092-Alternative-C;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Reference G gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga AGTTAACGTAGG CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAagttaacgtaggAGATCGAGACCCGACGC chr12:131414092-Reference-G;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Reference G gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GATTATTACCGG CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAgattattaccggAGATCGAGACCCGACGC chr12:131414092-Reference-G;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative T gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga ACACAACCAACG CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAacacaaccaacgAGATCGAGACCCGACGC chr12:131414092-Alternative-T;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative T gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GATAGGACGTGA CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAgataggacgtgaAGATCGAGACCCGACGC chr12:131414092-Alternative-T;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Variant A gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CAGTTACCACGT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcagttaccacgtAGATCGAGACCCGACGC chr12:131414092-Variant-A;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative T gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga AGATATCTGTCG CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAagatatctgtcgAGATCGAGACCCGACGC chr12:131414092-Alternative-T;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Alternative T gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GGTCGATACGCT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacTtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAggtcgatacgctAGATCGAGACCCGACGC chr12:131414092-Alternative-T;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Variant A gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CGACTATGTATC CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcgactatgtatcAGATCGAGACCCGACGC chr12:131414092-Variant-A;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Variant A gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GGAGGTAAGCCA CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAggaggtaagccaAGATCGAGACCCGACGC chr12:131414092-Variant-A;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Reference G gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga AGTAACAACGAC CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAagtaacaacgacAGATCGAGACCCGACGC chr12:131414092-Reference-G;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Variant A gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CTGCTTCATAAC CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAActgcttcataacAGATCGAGACCCGACGC chr12:131414092-Variant-A;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Variant A gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga GAGTTACGGTGG CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacAtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAgagttacggtggAGATCGAGACCCGACGC chr12:131414092-Variant-A;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Reference G gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CAACACTATGGT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcaacactatggtAGATCGAGACCCGACGC chr12:131414092-Reference-G;Patient-83 chr12:131414092-GA DeNovo Patient-83 intergenic NA 0.000513 -0.25 0.5 -0.88 STX2 90272 Reference G gcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattga CGCTGTTCATAT CGACGCGGTCTCTCTCTgcacatgaactcatcataaaaacgtaaaaataatcctctttgtggtgcacGtgattgtgagcctctgtgtctgtctgggatgcgagtgtgagagaattgaAGAGGGAGACGGACGTCTCAATAAcgctgttcatatAGATCGAGACCCGACGC chr12:131414092-Reference-G;Patient-83 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Reference C tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct AGGACCGATCTT CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAaggaccgatcttAGATCGAGACCCGACGC chr12:131418831-Reference-C;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative A tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GGTCTTGGTAGA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAggtcttggtagaAGATCGAGACCCGACGC chr12:131418831-Alternative-A;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative A tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CAGTAACGCTTA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAcagtaacgcttaAGATCGAGACCCGACGC chr12:131418831-Alternative-A;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative G tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CTTAGGTGCGGT CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAActtaggtgcggtAGATCGAGACCCGACGC chr12:131418831-Alternative-G;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Reference C tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GTATCTCGTACT CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAgtatctcgtactAGATCGAGACCCGACGC chr12:131418831-Reference-C;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Reference C tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GGCGGTATAAGA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAggcggtataagaAGATCGAGACCCGACGC chr12:131418831-Reference-C;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Variant T tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GCAACGTTCGCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAgcaacgttcgcaAGATCGAGACCCGACGC chr12:131418831-Variant-T;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative A tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CGCTAGACGTCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAcgctagacgtcaAGATCGAGACCCGACGC chr12:131418831-Alternative-A;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative G tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct ATCTATACGTCC CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAatctatacgtccAGATCGAGACCCGACGC chr12:131418831-Alternative-G;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative G tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GAGTGTGAAGTT CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAgagtgtgaagttAGATCGAGACCCGACGC chr12:131418831-Alternative-G;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Variant T tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct AGACCGATTGCG CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAagaccgattgcgAGATCGAGACCCGACGC chr12:131418831-Variant-T;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative G tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CTTACCTGCGCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAActtacctgcgcaAGATCGAGACCCGACGC chr12:131418831-Alternative-G;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative G tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CTTGCACGTACT CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcGgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAActtgcacgtactAGATCGAGACCCGACGC chr12:131418831-Alternative-G;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative A tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CAATAGATTGCG CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAcaatagattgcgAGATCGAGACCCGACGC chr12:131418831-Alternative-A;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Variant T tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct AGGCGACTGTCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAaggcgactgtcaAGATCGAGACCCGACGC chr12:131418831-Variant-T;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Variant T tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct ACCGATTGATCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAaccgattgatcaAGATCGAGACCCGACGC chr12:131418831-Variant-T;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Reference C tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct ACAGCGCTGTGA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAacagcgctgtgaAGATCGAGACCCGACGC chr12:131418831-Reference-C;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Reference C tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct CATTGATCGCAG CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcCgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAcattgatcgcagAGATCGAGACCCGACGC chr12:131418831-Reference-C;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Alternative A tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct AGTAGAACGTCA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcAgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAagtagaacgtcaAGATCGAGACCCGACGC chr12:131418831-Alternative-A;Patient-57 chr12:131418831-CT DeNovo Patient-57 intergenic 0.000319 0.000512821 -0.36 0.23 -1.08 STX2 95011 Variant T tatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctct GGCCGAGGATTA CGACGCGGTCTCTCTCTtatagcgcagccacagcaatcttctggcagtgtccattggcgaatgcatcTgggcttcccgttaccctctgagtccactccagcctccttcctgtgctctAGAGGGAGACGGACGTCTCAATAAggccgaggattaAGATCGAGACCCGACGC chr12:131418831-Variant-T;Patient-57 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Variant T tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CGTAACGTGTAA CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAcgtaacgtgtaaAGATCGAGACCCGACGC chr12:132483370-Variant-T;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative G tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CATAACGCTGAG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAcataacgctgagAGATCGAGACCCGACGC chr12:132483370-Alternative-G;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Reference A tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac ATTGGTAAGGAC CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAattggtaaggacAGATCGAGACCCGACGC chr12:132483370-Reference-A;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Variant T tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac ACATGCGTACTT CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAacatgcgtacttAGATCGAGACCCGACGC chr12:132483370-Variant-T;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative G tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CTGTCGTTAACT CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAActgtcgttaactAGATCGAGACCCGACGC chr12:132483370-Alternative-G;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative G tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac ATACGCAACCTA CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAatacgcaacctaAGATCGAGACCCGACGC chr12:132483370-Alternative-G;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Reference A tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CTCGCGAATACG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAActcgcgaatacgAGATCGAGACCCGACGC chr12:132483370-Reference-A;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative G tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CTAGCGCACAAC CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAActagcgcacaacAGATCGAGACCCGACGC chr12:132483370-Alternative-G;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Reference A tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac AGACGCTGATCG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAagacgctgatcgAGATCGAGACCCGACGC chr12:132483370-Reference-A;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Reference A tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac AACAACGTGAAC CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAaacaacgtgaacAGATCGAGACCCGACGC chr12:132483370-Reference-A;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative G tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac ACCGCATGCAAG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagGctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAaccgcatgcaagAGATCGAGACCCGACGC chr12:132483370-Alternative-G;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative C tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac AGTGTAAGCGAA CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAagtgtaagcgaaAGATCGAGACCCGACGC chr12:132483370-Alternative-C;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Variant T tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac ATTCTAGGTGGT CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAattctaggtggtAGATCGAGACCCGACGC chr12:132483370-Variant-T;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Variant T tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CAGCTTCTGTCG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAcagcttctgtcgAGATCGAGACCCGACGC chr12:132483370-Variant-T;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Reference A tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac GACATCTCGTGG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagActttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAgacatctcgtggAGATCGAGACCCGACGC chr12:132483370-Reference-A;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Variant T tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CACACGACGTTA CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagTctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAcacacgacgttaAGATCGAGACCCGACGC chr12:132483370-Variant-T;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative C tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac CATTCGGACTTA CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAcattcggacttaAGATCGAGACCCGACGC chr12:132483370-Alternative-C;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative C tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac GACGGTTGACAG CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAgacggttgacagAGATCGAGACCCGACGC chr12:132483370-Alternative-C;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative C tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac AGGCGCAATCCT CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAaggcgcaatcctAGATCGAGACCCGACGC chr12:132483370-Alternative-C;Patient-19 chr12:132483370-AT DeNovo Patient-19 intronic EP400 0.000869 0.00183 -0.18 0.79 0 EP400 48904 Alternative C tgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatac GTCGCACATAAC CGACGCGGTCTCTCTCTtgtatacagtcttgtatacaaagactttgtatacagtcttgtatacaaagCctttgtatacagtcttgtatacaaagactttgtatacagtcttgtatacAGAGGGAGACGGACGTCTCAATAAgtcgcacataacAGATCGAGACCCGACGC chr12:132483370-Alternative-C;Patient-19 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative A ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactata AGATCGACGCAT CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAagatcgacgcatAGATCGAGACCCGACGC chr12:14074285-Alternative-A;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative G ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactata CTTGCGAGTACG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAActtgcgagtacgAGATCGAGACCCGACGC chr12:14074285-Alternative-G;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Reference T ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactata CTTGGTACGTGG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAActtggtacgtggAGATCGAGACCCGACGC chr12:14074285-Reference-T;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative G ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactata GATCGCACTACG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAgatcgcactacgAGATCGAGACCCGACGC chr12:14074285-Alternative-G;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative A ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactata CAGGACATAACA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAcaggacataacaAGATCGAGACCCGACGC chr12:14074285-Alternative-A;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative G ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactata CTCTACTTCGTT CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAActctacttcgttAGATCGAGACCCGACGC chr12:14074285-Alternative-G;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative A ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactata ACGCAACGAATA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAacgcaacgaataAGATCGAGACCCGACGC chr12:14074285-Alternative-A;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Variant C ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactata AATGCCGGCATT CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAaatgccggcattAGATCGAGACCCGACGC chr12:14074285-Variant-C;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Reference T ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactata GCATGTACGCGA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAgcatgtacgcgaAGATCGAGACCCGACGC chr12:14074285-Reference-T;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative A ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactata CTTGTAATCGCA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAActtgtaatcgcaAGATCGAGACCCGACGC chr12:14074285-Alternative-A;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Variant C ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactata CATAATCGCACG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAcataatcgcacgAGATCGAGACCCGACGC chr12:14074285-Variant-C;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Variant C ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactata GGCAAGCGGATT CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAggcaagcggattAGATCGAGACCCGACGC chr12:14074285-Variant-C;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Reference T ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactata AATCTCCGGTGG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAaatctccggtggAGATCGAGACCCGACGC chr12:14074285-Reference-T;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Reference T ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactata CAAGCCAATAGG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAcaagccaataggAGATCGAGACCCGACGC chr12:14074285-Reference-T;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Reference T ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactata CGACGTAGACGA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaTtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAcgacgtagacgaAGATCGAGACCCGACGC chr12:14074285-Reference-T;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Variant C ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactata AATCGTGTTCAC CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAaatcgtgttcacAGATCGAGACCCGACGC chr12:14074285-Variant-C;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative A ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactata GATATATCTCGG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaAtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAgatatatctcggAGATCGAGACCCGACGC chr12:14074285-Alternative-A;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Variant C ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactata AGCGTCGCAGAA CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaCtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAagcgtcgcagaaAGATCGAGACCCGACGC chr12:14074285-Variant-C;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative G ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactata AGTAGCGAACTT CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAAagtagcgaacttAGATCGAGACCCGACGC chr12:14074285-Alternative-G;Patient-54 chr12:14074285-TC Inherited Patient-54 intronic GRIN2B 0.000414 0.000958 -0.05 1.92 0.56 GRIN2B 58736 Alternative G ggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactata CTGGTCTGTACG CGACGCGGTCTCTCTCTggcatgagaatcgcttgaacccgggaggcagaagttgcaatgaacctagaGtgtgccactgccactatactccagcctgggtgacaggagcaagactataAGAGGGAGACGGACGTCTCAATAActggtctgtacgAGATCGAGACCCGACGC chr12:14074285-Alternative-G;Patient-54 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Reference G gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GGTTCTGGATGC CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAggttctggatgcAGATCGAGACCCGACGC chr12:14162218-Reference-G;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Variant C gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga CAAGCGTCCAAG CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAcaagcgtccaagAGATCGAGACCCGACGC chr12:14162218-Variant-C;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Variant C gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga CAACTATTCGAC CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAcaactattcgacAGATCGAGACCCGACGC chr12:14162218-Variant-C;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative A gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GGAGAATCGCGT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAggagaatcgcgtAGATCGAGACCCGACGC chr12:14162218-Alternative-A;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative T gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga AGGCGGTTAATT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAaggcggttaattAGATCGAGACCCGACGC chr12:14162218-Alternative-T;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative A gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga ACAGACTATGCT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAacagactatgctAGATCGAGACCCGACGC chr12:14162218-Alternative-A;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative A gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GTAGATCCAACT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAgtagatccaactAGATCGAGACCCGACGC chr12:14162218-Alternative-A;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Variant C gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GATTGCACCAAT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAgattgcaccaatAGATCGAGACCCGACGC chr12:14162218-Variant-C;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Variant C gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga CAAGCTCGAGCT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAcaagctcgagctAGATCGAGACCCGACGC chr12:14162218-Variant-C;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative A gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga ACTCATACGTCT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAactcatacgtctAGATCGAGACCCGACGC chr12:14162218-Alternative-A;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative T gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GAAGAGTTGGCG CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAgaagagttggcgAGATCGAGACCCGACGC chr12:14162218-Alternative-T;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Reference G gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GCAACCTTACAT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAgcaaccttacatAGATCGAGACCCGACGC chr12:14162218-Reference-G;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Variant C gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga AGTCTAGCCTAA CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaCaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAagtctagcctaaAGATCGAGACCCGACGC chr12:14162218-Variant-C;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Reference G gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga ACAGAGATCCAA CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAacagagatccaaAGATCGAGACCCGACGC chr12:14162218-Reference-G;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative A gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga AGGTTCTGGATT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaAaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAaggttctggattAGATCGAGACCCGACGC chr12:14162218-Alternative-A;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Reference G gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GCGGCGTATAGT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAgcggcgtatagtAGATCGAGACCCGACGC chr12:14162218-Reference-G;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative T gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga ACCAACGAGCGA CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAaccaacgagcgaAGATCGAGACCCGACGC chr12:14162218-Alternative-T;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative T gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga GGCGGTGAGTAT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAggcggtgagtatAGATCGAGACCCGACGC chr12:14162218-Alternative-T;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Alternative T gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga CAGACTTGCGCT CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaTaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAcagacttgcgctAGATCGAGACCCGACGC chr12:14162218-Alternative-T;Patient-87 chr12:14162218-GC Inherited Patient-87 intergenic NA 0.000513 -0.36 0.24 -4.35 GRIN2B 29195 Reference G gaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctataga CGAAGGTTCGTC CGACGCGGTCTCTCTCTgaaatgcaaatatttgggtatcgctgaagtactgcttcttgtttgggagaGaggcagtgtagatgggaacatggtgccaatcaatagatagggctatagaAGAGGGAGACGGACGTCTCAATAAcgaaggttcgtcAGATCGAGACCCGACGC chr12:14162218-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Variant A gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgttt CAGTTACGGTTA CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAcagttacggttaAGATCGAGACCCGACGC chr12:14162243-Variant-A;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Variant A gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgttt AAGCGGTCTGGT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAaagcggtctggtAGATCGAGACCCGACGC chr12:14162243-Variant-A;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Variant A gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgttt GAGATCGGTGGT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAgagatcggtggtAGATCGAGACCCGACGC chr12:14162243-Variant-A;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative T gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgttt CTACCATGACTT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAActaccatgacttAGATCGAGACCCGACGC chr12:14162243-Alternative-T;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative T gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgttt ACCTATGTAGTC CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAacctatgtagtcAGATCGAGACCCGACGC chr12:14162243-Alternative-T;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Variant A gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgttt GTCGTCCATGAG CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAgtcgtccatgagAGATCGAGACCCGACGC chr12:14162243-Variant-A;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Reference G gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgttt ACGACATGCGCA CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAacgacatgcgcaAGATCGAGACCCGACGC chr12:14162243-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Reference G gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgttt GTATCACGCATT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAgtatcacgcattAGATCGAGACCCGACGC chr12:14162243-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative T gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgttt ATCGCTTAACAG CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAatcgcttaacagAGATCGAGACCCGACGC chr12:14162243-Alternative-T;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative T gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgttt AGATGCTTGGTT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAagatgcttggttAGATCGAGACCCGACGC chr12:14162243-Alternative-T;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative C gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgttt CTGAACGCAGTC CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAActgaacgcagtcAGATCGAGACCCGACGC chr12:14162243-Alternative-C;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative T gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgttt ATCTGGTGTCGG CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtTccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAatctggtgtcggAGATCGAGACCCGACGC chr12:14162243-Alternative-T;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Reference G gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgttt CGGTGTGAAGTC CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAcggtgtgaagtcAGATCGAGACCCGACGC chr12:14162243-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative C gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgttt AGCTCTAGGTCG CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAagctctaggtcgAGATCGAGACCCGACGC chr12:14162243-Alternative-C;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Variant A gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgttt CTTGTCGGTATT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtAccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAActtgtcggtattAGATCGAGACCCGACGC chr12:14162243-Variant-A;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative C gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgttt ATCGTGGCCGAA CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAatcgtggccgaaAGATCGAGACCCGACGC chr12:14162243-Alternative-C;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Reference G gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgttt GGCAGTTAACAC CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAggcagttaacacAGATCGAGACCCGACGC chr12:14162243-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Reference G gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgttt AGGTGTTGTCTA CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtGccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAaggtgttgtctaAGATCGAGACCCGACGC chr12:14162243-Reference-G;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative C gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgttt GACATCCATAGT CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAgacatccatagtAGATCGAGACCCGACGC chr12:14162243-Alternative-C;Patient-87 chr12:14162243-GA Inherited Patient-87 intergenic NA 0.000513 -0.1 1.41 -1.94 GRIN2B 29220 Alternative C gaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgttt ACTTGGTCCGTC CGACGCGGTCTCTCTCTgaagtactgcttcttgtttgggagagaggcagtgtagatgggaacatggtCccaatcaatagatagggctatagatatacaggctatggaggccttgtttAGAGGGAGACGGACGTCTCAATAAacttggtccgtcAGATCGAGACCCGACGC chr12:14162243-Alternative-C;Patient-87 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative C tatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CGCGATGTAATA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAcgcgatgtaataAGATCGAGACCCGACGC chr12:14198127-Alternative-C;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Variant A tatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GTAGGACGAATT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAgtaggacgaattAGATCGAGACCCGACGC chr12:14198127-Variant-A;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative C tatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CGCTATTAACCA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAcgctattaaccaAGATCGAGACCCGACGC chr12:14198127-Alternative-C;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative C tatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg AATCGTCCAGCG CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAaatcgtccagcgAGATCGAGACCCGACGC chr12:14198127-Alternative-C;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative T tatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CTAAGTTGATCG CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAActaagttgatcgAGATCGAGACCCGACGC chr12:14198127-Alternative-T;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Variant A tatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg ACCAACGCCAAG CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAaccaacgccaagAGATCGAGACCCGACGC chr12:14198127-Variant-A;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Variant A tatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CTCTAATGCCAC CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAActctaatgccacAGATCGAGACCCGACGC chr12:14198127-Variant-A;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative C tatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GTTGACCAAGTT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAgttgaccaagttAGATCGAGACCCGACGC chr12:14198127-Alternative-C;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative T tatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GAAGATGACCGA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAgaagatgaccgaAGATCGAGACCCGACGC chr12:14198127-Alternative-T;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Reference G tatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GGAGAAGAGTAT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAggagaagagtatAGATCGAGACCCGACGC chr12:14198127-Reference-G;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative T tatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GCATGCGGTATA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAgcatgcggtataAGATCGAGACCCGACGC chr12:14198127-Alternative-T;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Reference G tatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg AGTCGATGTTCA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAagtcgatgttcaAGATCGAGACCCGACGC chr12:14198127-Reference-G;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative T tatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CGTCCGTCATAC CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAcgtccgtcatacAGATCGAGACCCGACGC chr12:14198127-Alternative-T;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Variant A tatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CTAAGCGTGGAA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAActaagcgtggaaAGATCGAGACCCGACGC chr12:14198127-Variant-A;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Reference G tatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CGTAGCAATGGT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAcgtagcaatggtAGATCGAGACCCGACGC chr12:14198127-Reference-G;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative T tatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg ACGGTACACCTT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcTgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAacggtacaccttAGATCGAGACCCGACGC chr12:14198127-Alternative-T;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Reference G tatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GGTACGGAGTAC CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAggtacggagtacAGATCGAGACCCGACGC chr12:14198127-Reference-G;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Variant A tatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg CGGATGATGATA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcAgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAcggatgatgataAGATCGAGACCCGACGC chr12:14198127-Variant-A;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Alternative C tatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg GATGATGAGTCA CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcCgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAgatgatgagtcaAGATCGAGACCCGACGC chr12:14198127-Alternative-C;Patient-16 chr12:14198127-GA DeNovo Patient-16 intergenic NA 0.000513 0.05 3.46 2.12 GRIN2B 65104 Reference G tatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatg ACCGTAAGCAGT CGACGCGGTCTCTCTCTtatttaaattaattaaatttaaatagccataggtggctagtagacggagcGgttctacaggaatggaacagagggcaagcctgatctttttcataaaatgAGAGGGAGACGGACGTCTCAATAAaccgtaagcagtAGATCGAGACCCGACGC chr12:14198127-Reference-G;Patient-16 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Reference G cttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcac ATACCGTTACCT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAataccgttacctAGATCGAGACCCGACGC chr12:14880749-Reference-G;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Variant T cttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcac GATGGCTGCTGT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAgatggctgctgtAGATCGAGACCCGACGC chr12:14880749-Variant-T;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Variant T cttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcac AAGTACTCTGGT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAaagtactctggtAGATCGAGACCCGACGC chr12:14880749-Variant-T;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Variant T cttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcac ACCACACGACGT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAaccacacgacgtAGATCGAGACCCGACGC chr12:14880749-Variant-T;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Variant T cttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcac AACCGAACACAG CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAaaccgaacacagAGATCGAGACCCGACGC chr12:14880749-Variant-T;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Variant T cttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcac GTGATAGTGCTT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggTtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAgtgatagtgcttAGATCGAGACCCGACGC chr12:14880749-Variant-T;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Reference G cttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGAGTACCGATA CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgagtaccgataAGATCGAGACCCGACGC chr12:14880749-Reference-G;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative C cttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGCTAATGTGTT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgctaatgtgttAGATCGAGACCCGACGC chr12:14880749-Alternative-C;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative A cttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGATTCCTGGAA CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgattcctggaaAGATCGAGACCCGACGC chr12:14880749-Alternative-A;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative C cttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcac ACGACTCGAACC CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAacgactcgaaccAGATCGAGACCCGACGC chr12:14880749-Alternative-C;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative C cttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGATTATGTGGT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgattatgtggtAGATCGAGACCCGACGC chr12:14880749-Alternative-C;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative C cttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CAACGAGAAGTT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcaacgagaagttAGATCGAGACCCGACGC chr12:14880749-Alternative-C;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative A cttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGTTGTTCCGAC CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgttgttccgacAGATCGAGACCCGACGC chr12:14880749-Alternative-A;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative C cttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcac ATTCCTCGGCGT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggCtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAattcctcggcgtAGATCGAGACCCGACGC chr12:14880749-Alternative-C;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative A cttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcac AGTCTAGACGCG CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAagtctagacgcgAGATCGAGACCCGACGC chr12:14880749-Alternative-A;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative A cttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcac GTGTCGCGATAC CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAgtgtcgcgatacAGATCGAGACCCGACGC chr12:14880749-Alternative-A;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Reference G cttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcac GTAAGTCGTGTT CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAgtaagtcgtgttAGATCGAGACCCGACGC chr12:14880749-Reference-G;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Alternative A cttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGCTATACGTGG CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggAtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgctatacgtggAGATCGAGACCCGACGC chr12:14880749-Alternative-A;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Reference G cttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcac CGCTTCGCTACA CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAcgcttcgctacaAGATCGAGACCCGACGC chr12:14880749-Reference-G;Patient-81 chr12:14880749-GT DeNovo Patient-81 intergenic 0.00026 0.00154 0.08 3.87 0.15 GUCY2C 31229 Reference G cttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcac GTTCGCTGCATC CGACGCGGTCTCTCTCTcttggttgattgacctttatcattacatagtgtccctctttgtctctgggGtttttttttatgttctgaagtccactttgtctgatattaatacagtcacAGAGGGAGACGGACGTCTCAATAAgttcgctgcatcAGATCGAGACCCGACGC chr12:14880749-Reference-G;Patient-81 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Reference T gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatag GTACACGATACG CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgtacacgatacgAGATCGAGACCCGACGC chr12:15495330-Reference-T;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative A gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatag CGAACGCTCTGA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAcgaacgctctgaAGATCGAGACCCGACGC chr12:15495330-Alternative-A;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative A gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatag CGGAATTGTGCG CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAcggaattgtgcgAGATCGAGACCCGACGC chr12:15495330-Alternative-A;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Reference T gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatag GCGACTCGTAGT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgcgactcgtagtAGATCGAGACCCGACGC chr12:15495330-Reference-T;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Reference T gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatag CGCTACATACTT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAcgctacatacttAGATCGAGACCCGACGC chr12:15495330-Reference-T;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative A gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatag ATCGCACAACGC CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAatcgcacaacgcAGATCGAGACCCGACGC chr12:15495330-Alternative-A;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative A gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatag GTGACGTAACTA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgtgacgtaactaAGATCGAGACCCGACGC chr12:15495330-Alternative-A;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Variant C gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatag CTTATGCCACTA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAActtatgccactaAGATCGAGACCCGACGC chr12:15495330-Variant-C;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative G gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatag CGGCCATATACG CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAcggccatatacgAGATCGAGACCCGACGC chr12:15495330-Alternative-G;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Variant C gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatag ATCGGAACTCAA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAatcggaactcaaAGATCGAGACCCGACGC chr12:15495330-Variant-C;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Reference T gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatag CGAAGTACTTGT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAcgaagtacttgtAGATCGAGACCCGACGC chr12:15495330-Reference-T;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Variant C gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatag AGGAAGTGTAAG CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAaggaagtgtaagAGATCGAGACCCGACGC chr12:15495330-Variant-C;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative A gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatag GGCAAGATTCCA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaAatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAggcaagattccaAGATCGAGACCCGACGC chr12:15495330-Alternative-A;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Variant C gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatag CTTACGGTCGTC CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAActtacggtcgtcAGATCGAGACCCGACGC chr12:15495330-Variant-C;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Variant C gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatag GTACCACAGATT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaCatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgtaccacagattAGATCGAGACCCGACGC chr12:15495330-Variant-C;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative G gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatag GCGGTTAGCTGT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgcggttagctgtAGATCGAGACCCGACGC chr12:15495330-Alternative-G;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative G gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatag GGCAAGAGCAAG CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAggcaagagcaagAGATCGAGACCCGACGC chr12:15495330-Alternative-G;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Reference T gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatag AACGACATGACC CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaTatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAaacgacatgaccAGATCGAGACCCGACGC chr12:15495330-Reference-T;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative G gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatag GACGGTTGGACA CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgacggttggacaAGATCGAGACCCGACGC chr12:15495330-Alternative-G;Patient-26 chr12:15495330-TC DeNovo Patient-26 intronic PTPRO NA 4.95e-05 0.57 9.98 2.56 PTPRO 20138 Alternative G gcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatag GTAGTCTGTCTT CGACGCGGTCTCTCTCTgcattctatttgtacagtgttttatgtctatgatcaccaatcatctttcaGatgttatatttgagcataatttattctttctttctatgaacatttatagAGAGGGAGACGGACGTCTCAATAAgtagtctgtcttAGATCGAGACCCGACGC chr12:15495330-Alternative-G;Patient-26 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Reference G catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgt ATTCGGCGTCAC CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAattcggcgtcacAGATCGAGACCCGACGC chr12:15957094-Reference-G;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Reference G catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AAGCAATGGTCA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAaagcaatggtcaAGATCGAGACCCGACGC chr12:15957094-Reference-G;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative C catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AAGGCGAGATGC CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAaaggcgagatgcAGATCGAGACCCGACGC chr12:15957094-Alternative-C;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Variant A catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GACTATGATCGA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgactatgatcgaAGATCGAGACCCGACGC chr12:15957094-Variant-A;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Variant A catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GTTGAGTAGGAT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgttgagtaggatAGATCGAGACCCGACGC chr12:15957094-Variant-A;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative T catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GATGTGGATCGG CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgatgtggatcggAGATCGAGACCCGACGC chr12:15957094-Alternative-T;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Variant A catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgt CAAGATGTCGAT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAcaagatgtcgatAGATCGAGACCCGACGC chr12:15957094-Variant-A;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Variant A catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AACGACATCGAT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAaacgacatcgatAGATCGAGACCCGACGC chr12:15957094-Variant-A;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative T catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GCGATACGAACC CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgcgatacgaaccAGATCGAGACCCGACGC chr12:15957094-Alternative-T;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative T catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgt ACTAGTGGTCTA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAactagtggtctaAGATCGAGACCCGACGC chr12:15957094-Alternative-T;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Variant A catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AGGTGACGACCA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcAgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAaggtgacgaccaAGATCGAGACCCGACGC chr12:15957094-Variant-A;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative T catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GGTCTTGTCTTA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAggtcttgtcttaAGATCGAGACCCGACGC chr12:15957094-Alternative-T;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative C catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GAAGTTCCACTA CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgaagttccactaAGATCGAGACCCGACGC chr12:15957094-Alternative-C;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Reference G catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgt ACAAGATGGTAC CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAacaagatggtacAGATCGAGACCCGACGC chr12:15957094-Reference-G;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Reference G catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AGATAGCATACG CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAagatagcatacgAGATCGAGACCCGACGC chr12:15957094-Reference-G;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative C catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgt AACGCGGTTAAT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAaacgcggttaatAGATCGAGACCCGACGC chr12:15957094-Alternative-C;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative T catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GACTAATCGAAG CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcTgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgactaatcgaagAGATCGAGACCCGACGC chr12:15957094-Alternative-T;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative C catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgt GACTAGTTCGAT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAgactagttcgatAGATCGAGACCCGACGC chr12:15957094-Alternative-C;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Alternative C catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgt CTGCGATCTGCT CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcCgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAActgcgatctgctAGATCGAGACCCGACGC chr12:15957094-Alternative-C;Patient-1 chr12:15957094-GA DeNovo Patient-1 intergenic 0.000127 0.000513 0.67 10.88 1.28 EPS8 14583 Reference G catgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgt ACACCTACAAGG CGACGCGGTCTCTCTCTcatgcacaagatggtcaaggccaaccatgccctggcccactactgctggcGgtagagattccagaaggagctcagggccctccactgcaagaaatactgtAGAGGGAGACGGACGTCTCAATAAacacctacaaggAGATCGAGACCCGACGC chr12:15957094-Reference-G;Patient-1 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Variant G gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt CGCACGAACGAT CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAcgcacgaacgatAGATCGAGACCCGACGC chr12:16130241-Variant-G;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Variant G gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GAATGGTGACTA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgaatggtgactaAGATCGAGACCCGACGC chr12:16130241-Variant-G;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Variant G gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt ATTAATCGGCCA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAattaatcggccaAGATCGAGACCCGACGC chr12:16130241-Variant-G;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Variant G gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt AGTACTCGATAC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAagtactcgatacAGATCGAGACCCGACGC chr12:16130241-Variant-G;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative T gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt ATCCGTATGACA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAatccgtatgacaAGATCGAGACCCGACGC chr12:16130241-Alternative-T;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Variant G gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GACTGAATCGAC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcGtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgactgaatcgacAGATCGAGACCCGACGC chr12:16130241-Variant-G;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative T gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt ACTACGCTTGAT CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAactacgcttgatAGATCGAGACCCGACGC chr12:16130241-Alternative-T;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Reference A gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt ACACAGCGGCTA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAacacagcggctaAGATCGAGACCCGACGC chr12:16130241-Reference-A;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative T gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt AATGCGTGTGTT CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAaatgcgtgtgttAGATCGAGACCCGACGC chr12:16130241-Alternative-T;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Reference A gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GCCTTATTGCCG CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgccttattgccgAGATCGAGACCCGACGC chr12:16130241-Reference-A;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Reference A gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GCAACGGTGTTC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgcaacggtgttcAGATCGAGACCCGACGC chr12:16130241-Reference-A;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Reference A gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt CTAGGCCTACAC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAActaggcctacacAGATCGAGACCCGACGC chr12:16130241-Reference-A;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative T gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt CATCGTATGTTC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAcatcgtatgttcAGATCGAGACCCGACGC chr12:16130241-Alternative-T;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative T gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GATAGCTTCTGA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcTtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgatagcttctgaAGATCGAGACCCGACGC chr12:16130241-Alternative-T;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative C gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GATCATCCGTGG CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgatcatccgtggAGATCGAGACCCGACGC chr12:16130241-Alternative-C;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative C gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GTGACTCGCACA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgtgactcgcacaAGATCGAGACCCGACGC chr12:16130241-Alternative-C;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Reference A gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt AATGAGAACGTC CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcAtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAaatgagaacgtcAGATCGAGACCCGACGC chr12:16130241-Reference-A;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative C gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt GTGTCTCGACGA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAAgtgtctcgacgaAGATCGAGACCCGACGC chr12:16130241-Alternative-C;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative C gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt CTGCTGTGCTGT CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAActgctgtgctgtAGATCGAGACCCGACGC chr12:16130241-Alternative-C;Patient-91 chr12:16130241-AG Inherited Patient-91 intronic DERA 0.000414 0.000297 0.09 4.04 -1.67 DERA 66054 Alternative C gtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagtt CTCATGCAACTA CGACGCGGTCTCTCTCTgtatttccctgggaatatgttgtaactgcagtgagtgtacacgtgcatgcCtgtgtgtgtgtgctgggatagaggcagaaaattttgaggaaatacagttAGAGGGAGACGGACGTCTCAATAActcatgcaactaAGATCGAGACCCGACGC chr12:16130241-Alternative-C;Patient-91 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative G aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg GAGATCAAGACG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAgagatcaagacgAGATCGAGACCCGACGC chr12:20611921-Alternative-G;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative G aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg AGTTGGCTCTAA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAagttggctctaaAGATCGAGACCCGACGC chr12:20611921-Alternative-G;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Reference T aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CTCTAGCTCGCA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAActctagctcgcaAGATCGAGACCCGACGC chr12:20611921-Reference-T;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Reference T aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg GGACTTATATCG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAggacttatatcgAGATCGAGACCCGACGC chr12:20611921-Reference-T;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative G aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg AATAGCGGCAAG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAaatagcggcaagAGATCGAGACCCGACGC chr12:20611921-Alternative-G;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative G aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CAAGCGATCCGA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAcaagcgatccgaAGATCGAGACCCGACGC chr12:20611921-Alternative-G;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Reference T aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CACGCTATGCCA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAcacgctatgccaAGATCGAGACCCGACGC chr12:20611921-Reference-T;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative G aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CAGGTGTAACGG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaGatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAcaggtgtaacggAGATCGAGACCCGACGC chr12:20611921-Alternative-G;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative A aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CGCTTAAGTACG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAcgcttaagtacgAGATCGAGACCCGACGC chr12:20611921-Alternative-A;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Reference T aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CTGTTCGCATGC CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAActgttcgcatgcAGATCGAGACCCGACGC chr12:20611921-Reference-T;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative A aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg AGCGTACTCCGA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAagcgtactccgaAGATCGAGACCCGACGC chr12:20611921-Alternative-A;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative A aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CTTACAGTAACG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAActtacagtaacgAGATCGAGACCCGACGC chr12:20611921-Alternative-A;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Reference T aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg GATAAGTCAACG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaTatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAgataagtcaacgAGATCGAGACCCGACGC chr12:20611921-Reference-T;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative A aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CTGAGTTCTGAA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAActgagttctgaaAGATCGAGACCCGACGC chr12:20611921-Alternative-A;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Alternative A aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg ACGGTGAATAGT CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaAatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAacggtgaatagtAGATCGAGACCCGACGC chr12:20611921-Alternative-A;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Variant C aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg GATGTAATAGCG CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAgatgtaatagcgAGATCGAGACCCGACGC chr12:20611921-Variant-C;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Variant C aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg AACGCTGGACGA CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAaacgctggacgaAGATCGAGACCCGACGC chr12:20611921-Variant-C;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Variant C aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg AACTTGCGGCGT CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAaacttgcggcgtAGATCGAGACCCGACGC chr12:20611921-Variant-C;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Variant C aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg ATATACGAGGAC CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAAatatacgaggacAGATCGAGACCCGACGC chr12:20611921-Variant-C;Patient-68 chr12:20611921-TC Inherited Patient-68 intronic PDE3A 0.000223 0.000247 -0.19 0.74 -3.89 PDE3A 89741 Variant C aaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatg CTTGCTCCAACT CGACGCGGTCTCTCTCTaaggcacagaatttgaatttatacaaaaagaatatgtaagggtataaaaaCatgtaaataaaagtgcctagatgcaagagtgatggaaataagtcaaatgAGAGGGAGACGGACGTCTCAATAActtgctccaactAGATCGAGACCCGACGC chr12:20611921-Variant-C;Patient-68 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative G ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GATGCTAGACGC CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgatgctagacgcAGATCGAGACCCGACGC chr12:20887282-Alternative-G;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative G ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CGGATTCGACGT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAcggattcgacgtAGATCGAGACCCGACGC chr12:20887282-Alternative-G;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Variant T ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa AGTAATCGTCCA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAagtaatcgtccaAGATCGAGACCCGACGC chr12:20887282-Variant-T;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Variant T ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GACGAGTTGTAA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgacgagttgtaaAGATCGAGACCCGACGC chr12:20887282-Variant-T;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative A ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GTATTAGACCAC CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgtattagaccacAGATCGAGACCCGACGC chr12:20887282-Alternative-A;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative A ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CTGCGTCCGTTA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAActgcgtccgttaAGATCGAGACCCGACGC chr12:20887282-Alternative-A;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Variant T ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa ATAGTAGCGAGT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAatagtagcgagtAGATCGAGACCCGACGC chr12:20887282-Variant-T;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative G ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GTACTTACCGTT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgtacttaccgttAGATCGAGACCCGACGC chr12:20887282-Alternative-G;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative G ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GATACAACCTAC CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgatacaacctacAGATCGAGACCCGACGC chr12:20887282-Alternative-G;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Variant T ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa AGCGTTCAATGT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAagcgttcaatgtAGATCGAGACCCGACGC chr12:20887282-Variant-T;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Reference C ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GGCACCAATAGG CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAggcaccaataggAGATCGAGACCCGACGC chr12:20887282-Reference-C;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative G ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CTCGTGTAGTCT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcGttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAActcgtgtagtctAGATCGAGACCCGACGC chr12:20887282-Alternative-G;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Reference C ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CACTTAGCCGAA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAcacttagccgaaAGATCGAGACCCGACGC chr12:20887282-Reference-C;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Reference C ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa AGTTACCGTCGC CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAagttaccgtcgcAGATCGAGACCCGACGC chr12:20887282-Reference-C;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Variant T ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GCGATTGCTCGA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcTttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgcgattgctcgaAGATCGAGACCCGACGC chr12:20887282-Variant-T;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Reference C ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CAGCATATAGTC CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAcagcatatagtcAGATCGAGACCCGACGC chr12:20887282-Reference-C;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative A ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CTGGCCGAAGAT CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAActggccgaagatAGATCGAGACCCGACGC chr12:20887282-Alternative-A;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative A ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CTACAACGTGCA CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAActacaacgtgcaAGATCGAGACCCGACGC chr12:20887282-Alternative-A;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Alternative A ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa GTTCGTTCGTCG CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcAttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAgttcgttcgtcgAGATCGAGACCCGACGC chr12:20887282-Alternative-A;Patient-33 chr12:20887282-CT DeNovo Patient-33 intronic SLCO1C1 NA 4.95e-05 NA NA NA SLCO1C1 38992 Reference C ctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaa CAACTAGTCTGG CGACGCGGTCTCTCTCTctgggagttatcacagccacattgttagactcagctgagtgtagtgctgcCttagtgaaagtcagtgatatggattaagaatgttagttgtaacaatgaaAGAGGGAGACGGACGTCTCAATAAcaactagtctggAGATCGAGACCCGACGC chr12:20887282-Reference-C;Patient-33 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Variant C actggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtccca ATCGTCTGTCAT CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAatcgtctgtcatAGATCGAGACCCGACGC chr12:21103343-Variant-C;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Variant C actggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtccca GTTACGTCAAGT CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAgttacgtcaagtAGATCGAGACCCGACGC chr12:21103343-Variant-C;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Variant C actggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtccca CTTGAGTCGAAC CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAActtgagtcgaacAGATCGAGACCCGACGC chr12:21103343-Variant-C;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Variant C actggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtccca ATCGCATGTCTA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAatcgcatgtctaAGATCGAGACCCGACGC chr12:21103343-Variant-C;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Variant C actggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtccca GTTGAGCGAACG CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcCtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAgttgagcgaacgAGATCGAGACCCGACGC chr12:21103343-Variant-C;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative A actggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtccca ACTTGTTGCATC CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAacttgttgcatcAGATCGAGACCCGACGC chr12:21103343-Alternative-A;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative A actggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtccca CAAGTATAAGCG CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAcaagtataagcgAGATCGAGACCCGACGC chr12:21103343-Alternative-A;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative A actggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtccca CGACTGTGCTTC CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAcgactgtgcttcAGATCGAGACCCGACGC chr12:21103343-Alternative-A;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative A actggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtccca CGGCGAAGCTAA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAcggcgaagctaaAGATCGAGACCCGACGC chr12:21103343-Alternative-A;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative A actggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtccca GCGCGACTTCAT CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcAtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAgcgcgacttcatAGATCGAGACCCGACGC chr12:21103343-Alternative-A;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Reference T actggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtccca GTCGTCCACGAA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAgtcgtccacgaaAGATCGAGACCCGACGC chr12:21103343-Reference-T;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative G actggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtccca ACAAGACTACGA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAacaagactacgaAGATCGAGACCCGACGC chr12:21103343-Alternative-G;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Reference T actggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtccca AATCGCGTATCA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAaatcgcgtatcaAGATCGAGACCCGACGC chr12:21103343-Reference-T;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Reference T actggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtccca AGCGGTTAATCA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAagcggttaatcaAGATCGAGACCCGACGC chr12:21103343-Reference-T;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Reference T actggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtccca CTAGCTTACGTT CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAActagcttacgttAGATCGAGACCCGACGC chr12:21103343-Reference-T;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative G actggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtccca CTGAATGGTTCA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAActgaatggttcaAGATCGAGACCCGACGC chr12:21103343-Alternative-G;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Reference T actggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtccca GTTAGGACGCAG CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcTtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAgttaggacgcagAGATCGAGACCCGACGC chr12:21103343-Reference-T;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative G actggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtccca ACCGGTGATCGA CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAaccggtgatcgaAGATCGAGACCCGACGC chr12:21103343-Alternative-G;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative G actggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtccca CACTTATAGTGG CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAcacttatagtggAGATCGAGACCCGACGC chr12:21103343-Alternative-G;Patient-55 chr12:21103343-TC Inherited Patient-55 intergenic 0.00051 0.003076923 0.41 8.5 0 SLCO1B7 65286 Alternative G actggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtccca GGCTTAGTTGAT CGACGCGGTCTCTCTCTactggccgagcagttatagcctgacttattcttccttgagttgcacacgcGtctgaattaatattagcttccaccagagggagacaaagagattgtcccaAGAGGGAGACGGACGTCTCAATAAggcttagttgatAGATCGAGACCCGACGC chr12:21103343-Alternative-G;Patient-55 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Reference G actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CACACTATGAAC CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAcacactatgaacAGATCGAGACCCGACGC chr12:2118911-Reference-G;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Reference G actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CTGTCGCCTAAC CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAActgtcgcctaacAGATCGAGACCCGACGC chr12:2118911-Reference-G;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Reference G actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GCGGTTATACGT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgcggttatacgtAGATCGAGACCCGACGC chr12:2118911-Reference-G;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Reference G actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga ACGACTCGTGCA CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAacgactcgtgcaAGATCGAGACCCGACGC chr12:2118911-Reference-G;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative T actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GAATCGAATCAG CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgaatcgaatcagAGATCGAGACCCGACGC chr12:2118911-Alternative-T;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative T actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GTTAGGTGAGCG CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgttaggtgagcgAGATCGAGACCCGACGC chr12:2118911-Alternative-T;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Reference G actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GACGAAGCTACA CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttGttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgacgaagctacaAGATCGAGACCCGACGC chr12:2118911-Reference-G;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative T actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CAGCACGACTAT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAcagcacgactatAGATCGAGACCCGACGC chr12:2118911-Alternative-T;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative T actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GATCACGATCCT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgatcacgatcctAGATCGAGACCCGACGC chr12:2118911-Alternative-T;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative A actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga AACTATGTCGAC CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAaactatgtcgacAGATCGAGACCCGACGC chr12:2118911-Alternative-A;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative T actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga AAGCAGCGTACG CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttTttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAaagcagcgtacgAGATCGAGACCCGACGC chr12:2118911-Alternative-T;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative A actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CATATACACGCA CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAcatatacacgcaAGATCGAGACCCGACGC chr12:2118911-Alternative-A;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative A actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GTAGCGTATTGA CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgtagcgtattgaAGATCGAGACCCGACGC chr12:2118911-Alternative-A;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative A actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GATCCTTCGTCG CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgatccttcgtcgAGATCGAGACCCGACGC chr12:2118911-Alternative-A;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Alternative A actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CAAGGTTGTCCT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttAttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAcaaggttgtcctAGATCGAGACCCGACGC chr12:2118911-Alternative-A;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Variant C actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga CGACCAGTACCT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAcgaccagtacctAGATCGAGACCCGACGC chr12:2118911-Variant-C;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Variant C actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga AAGTCCGGATGC CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAaagtccggatgcAGATCGAGACCCGACGC chr12:2118911-Variant-C;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Variant C actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga GAGTACGGCAGT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAgagtacggcagtAGATCGAGACCCGACGC chr12:2118911-Variant-C;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Variant C actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga AGGACAGATCAT CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAaggacagatcatAGATCGAGACCCGACGC chr12:2118911-Variant-C;Patient-89 chr12:2118911-GC Inherited Patient-89 intergenic NA 6.28e-05 0.14 4.86 0.1 CACNA1C 43504 Variant C actctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtagga AGTTGATCCGCA CGACGCGGTCTCTCTCTactctctctccctgtggaggagaacagtttgaagcagtgtgttatcagttCttttcaatgcatggttcatttatgttttaagcagcagagcacagtaggaAGAGGGAGACGGACGTCTCAATAAagttgatccgcaAGATCGAGACCCGACGC chr12:2118911-Variant-C;Patient-89 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Reference C cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GGCTCGAAGACT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAggctcgaagactAGATCGAGACCCGACGC chr12:2121255-Reference-C;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Reference C cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca ATCGGCAAGCCA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAatcggcaagccaAGATCGAGACCCGACGC chr12:2121255-Reference-C;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Reference C cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca CGAGGACGCTAA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAcgaggacgctaaAGATCGAGACCCGACGC chr12:2121255-Reference-C;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Reference C cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca AAGGCTCTGATT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAaaggctctgattAGATCGAGACCCGACGC chr12:2121255-Reference-C;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Reference C cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca AGACTAACAACG CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccCcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAagactaacaacgAGATCGAGACCCGACGC chr12:2121255-Reference-C;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative G cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GACTATGACCAC CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAgactatgaccacAGATCGAGACCCGACGC chr12:2121255-Alternative-G;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Variant T cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GTTCATAGCAGT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAgttcatagcagtAGATCGAGACCCGACGC chr12:2121255-Variant-T;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Variant T cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca CGTCTGCCGTTA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAcgtctgccgttaAGATCGAGACCCGACGC chr12:2121255-Variant-T;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative G cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca CGGCACAACGAA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAcggcacaacgaaAGATCGAGACCCGACGC chr12:2121255-Alternative-G;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Variant T cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GTACGGAGTACG CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAgtacggagtacgAGATCGAGACCCGACGC chr12:2121255-Variant-T;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative G cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca CTTGGTCGATAA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAActtggtcgataaAGATCGAGACCCGACGC chr12:2121255-Alternative-G;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative A cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GTCGATAACACG CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAgtcgataacacgAGATCGAGACCCGACGC chr12:2121255-Alternative-A;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative A cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GACATCGTGCGT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAgacatcgtgcgtAGATCGAGACCCGACGC chr12:2121255-Alternative-A;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative A cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca AAGGTTCGCGGT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAaaggttcgcggtAGATCGAGACCCGACGC chr12:2121255-Alternative-A;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative G cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca ATCGTCTTCAGT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAatcgtcttcagtAGATCGAGACCCGACGC chr12:2121255-Alternative-G;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Variant T cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GGTCATGAGTAA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAggtcatgagtaaAGATCGAGACCCGACGC chr12:2121255-Variant-T;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Variant T cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca AACGATAGCACA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccTcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAaacgatagcacaAGATCGAGACCCGACGC chr12:2121255-Variant-T;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative G cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca GGATATATGTGG CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccGcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAggatatatgtggAGATCGAGACCCGACGC chr12:2121255-Alternative-G;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative A cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca ATTCATACGCGT CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAAattcatacgcgtAGATCGAGACCCGACGC chr12:2121255-Alternative-A;Patient-92 chr12:2121255-CT Inherited Patient-92 intergenic NA 6.28e-05 0.05 3.43 1.45 CACNA1C 41160 Alternative A cttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtcca CTGAGGTTCATA CGACGCGGTCTCTCTCTcttttcaccttgtcattgatttttctctttttaaactgatgtatgaagccAcaaaggtaattgaactgcaaaatattgtgctaaactaaccttaagtccaAGAGGGAGACGGACGTCTCAATAActgaggttcataAGATCGAGACCCGACGC chr12:2121255-Alternative-A;Patient-92 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Variant C attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttg GGACGTGCAGAT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAggacgtgcagatAGATCGAGACCCGACGC chr12:21632286-Variant-C;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Variant C attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttg AGATGCCTAAGA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAagatgcctaagaAGATCGAGACCCGACGC chr12:21632286-Variant-C;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Variant C attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttg CGAGAAGATGAA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcgagaagatgaaAGATCGAGACCCGACGC chr12:21632286-Variant-C;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative A attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttg ATCATCGGACCG CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAatcatcggaccgAGATCGAGACCCGACGC chr12:21632286-Alternative-A;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative G attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttg ATTGCGGCGCTT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAattgcggcgcttAGATCGAGACCCGACGC chr12:21632286-Alternative-G;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Variant C attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttg CGCTCGTCAACA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcgctcgtcaacaAGATCGAGACCCGACGC chr12:21632286-Variant-C;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative A attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttg AGTCCGTCTTCG CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAagtccgtcttcgAGATCGAGACCCGACGC chr12:21632286-Alternative-A;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Reference T attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttg GCGCTCGTACAT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAgcgctcgtacatAGATCGAGACCCGACGC chr12:21632286-Reference-T;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Reference T attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttg CAGACACCGCAA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcagacaccgcaaAGATCGAGACCCGACGC chr12:21632286-Reference-T;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative A attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttg CGCGCATATCAA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcgcgcatatcaaAGATCGAGACCCGACGC chr12:21632286-Alternative-A;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Reference T attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttg ATTGGATTGCAC CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAattggattgcacAGATCGAGACCCGACGC chr12:21632286-Reference-T;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Reference T attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttg GTGCGGTCGAAT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAgtgcggtcgaatAGATCGAGACCCGACGC chr12:21632286-Reference-T;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative A attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttg CAAGCCTTACGC CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcaagccttacgcAGATCGAGACCCGACGC chr12:21632286-Alternative-A;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative G attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttg AGGCGTATCCGA CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAaggcgtatccgaAGATCGAGACCCGACGC chr12:21632286-Alternative-G;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative A attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttg CGCCTAAGGTGT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatAttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAcgcctaaggtgtAGATCGAGACCCGACGC chr12:21632286-Alternative-A;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative G attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttg ACTATGACCGAT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAactatgaccgatAGATCGAGACCCGACGC chr12:21632286-Alternative-G;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Variant C attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttg GTGGCATATAAG CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatCttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAgtggcatataagAGATCGAGACCCGACGC chr12:21632286-Variant-C;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative G attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttg AGTCGCTGAATT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAagtcgctgaattAGATCGAGACCCGACGC chr12:21632286-Alternative-G;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Alternative G attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttg ATCCGCCTAGTC CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatGttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAatccgcctagtcAGATCGAGACCCGACGC chr12:21632286-Alternative-G;Patient-31 chr12:21632286-TC DeNovo Patient-31 intronic RECQL NA 4.95e-05 0.07 3.76 0.78 RECQL 22316 Reference T attctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttg AACCGGTTCAAT CGACGCGGTCTCTCTCTattctaagctgagactttatcctacaggaaatgaggaatcatcatgtaatTttttttttttttttttttgagatggagtctcactctgtcacccaggttgAGAGGGAGACGGACGTCTCAATAAaaccggttcaatAGATCGAGACCCGACGC chr12:21632286-Reference-T;Patient-31 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative T cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg AAGTCGGAACGG CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAaagtcggaacggAGATCGAGACCCGACGC chr12:21634051-Alternative-T;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Reference G cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CGTCCAATAACA CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAcgtccaataacaAGATCGAGACCCGACGC chr12:21634051-Reference-G;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative T cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GCACGTTGGCAT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAgcacgttggcatAGATCGAGACCCGACGC chr12:21634051-Alternative-T;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative T cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GGCCGCGAATTA CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAggccgcgaattaAGATCGAGACCCGACGC chr12:21634051-Alternative-T;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Reference G cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GTCAGACGCGAT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAgtcagacgcgatAGATCGAGACCCGACGC chr12:21634051-Reference-G;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative T cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg ATTGTGTGGTGT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAattgtgtggtgtAGATCGAGACCCGACGC chr12:21634051-Alternative-T;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Reference G cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg AGTCAGTTATGG CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAagtcagttatggAGATCGAGACCCGACGC chr12:21634051-Reference-G;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative A cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CAGTCGTCATGG CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAcagtcgtcatggAGATCGAGACCCGACGC chr12:21634051-Alternative-A;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative A cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GTTGTGCTTGTT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAgttgtgcttgttAGATCGAGACCCGACGC chr12:21634051-Alternative-A;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative T cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GAATGCGGATCG CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaTtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAgaatgcggatcgAGATCGAGACCCGACGC chr12:21634051-Alternative-T;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Reference G cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GCGACTAAGACG CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAgcgactaagacgAGATCGAGACCCGACGC chr12:21634051-Reference-G;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative A cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CTGTGCACTCGT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAActgtgcactcgtAGATCGAGACCCGACGC chr12:21634051-Alternative-A;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Reference G cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CATCTGCTATAC CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaGtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAcatctgctatacAGATCGAGACCCGACGC chr12:21634051-Reference-G;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Variant C cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg GGTTGAGCATAA CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAggttgagcataaAGATCGAGACCCGACGC chr12:21634051-Variant-C;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Variant C cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CACTTCTTACCT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAcacttcttacctAGATCGAGACCCGACGC chr12:21634051-Variant-C;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative A cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg ATTCGTGCATCA CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAattcgtgcatcaAGATCGAGACCCGACGC chr12:21634051-Alternative-A;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Variant C cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg AGCACGATCGAT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAagcacgatcgatAGATCGAGACCCGACGC chr12:21634051-Variant-C;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Alternative A cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg AACGGCTACCGT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaAtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAaacggctaccgtAGATCGAGACCCGACGC chr12:21634051-Alternative-A;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Variant C cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg AGTAGCCGCTTC CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAAagtagccgcttcAGATCGAGACCCGACGC chr12:21634051-Variant-C;Patient-16 chr12:21634051-GC DeNovo Patient-16 intronic RECQL NA 4.95e-05 -0.12 1.22 1.3 RECQL 20551 Variant C cctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttg CTACGGTTCGCT CGACGCGGTCTCTCTCTcctaaatgataaagataactgctaaaattttggcttcagcaaacatgtgaCtgagtggatgattttttaagacagagaagactgaaggggaaattgcttgAGAGGGAGACGGACGTCTCAATAActacggttcgctAGATCGAGACCCGACGC chr12:21634051-Variant-C;Patient-16 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Reference G ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc AATATGCCGTCA CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAaatatgccgtcaAGATCGAGACCCGACGC chr12:21697407-Reference-G;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative T ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc ATAGGACGTAGT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAataggacgtagtAGATCGAGACCCGACGC chr12:21697407-Alternative-T;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Reference G ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc AACTTCGGAGAT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAaacttcggagatAGATCGAGACCCGACGC chr12:21697407-Reference-G;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative T ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GAATCGCAGGAC CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAgaatcgcaggacAGATCGAGACCCGACGC chr12:21697407-Alternative-T;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Reference G ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc AATAGACGCTGA CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAaatagacgctgaAGATCGAGACCCGACGC chr12:21697407-Reference-G;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative T ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GGAACACCGAAG CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAggaacaccgaagAGATCGAGACCCGACGC chr12:21697407-Alternative-T;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative T ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GCAACGCCTAAT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAgcaacgcctaatAGATCGAGACCCGACGC chr12:21697407-Alternative-T;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Reference G ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CTTGGTAGCAAG CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAActtggtagcaagAGATCGAGACCCGACGC chr12:21697407-Reference-G;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Reference G ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc ATACCACAACGT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaGgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAataccacaacgtAGATCGAGACCCGACGC chr12:21697407-Reference-G;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative T ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc ACGCGGCTCTAT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaTgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAacgcggctctatAGATCGAGACCCGACGC chr12:21697407-Alternative-T;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative A ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CTGCTATATTCG CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAActgctatattcgAGATCGAGACCCGACGC chr12:21697407-Alternative-A;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative A ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc AGGCTACCATAT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAaggctaccatatAGATCGAGACCCGACGC chr12:21697407-Alternative-A;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative A ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GGCGTAGTGTAC CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAggcgtagtgtacAGATCGAGACCCGACGC chr12:21697407-Alternative-A;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative A ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CGCTATGGTAGT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAcgctatggtagtAGATCGAGACCCGACGC chr12:21697407-Alternative-A;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Alternative A ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CGCGATAGCGAA CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaAgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAcgcgatagcgaaAGATCGAGACCCGACGC chr12:21697407-Alternative-A;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Variant C ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CGTTGAGATGAA CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAcgttgagatgaaAGATCGAGACCCGACGC chr12:21697407-Variant-C;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Variant C ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GTGTAACATCGT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAgtgtaacatcgtAGATCGAGACCCGACGC chr12:21697407-Variant-C;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Variant C ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc GTGTAGTCTCGG CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAgtgtagtctcggAGATCGAGACCCGACGC chr12:21697407-Variant-C;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Variant C ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc CGATTCGAACGA CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAcgattcgaacgaAGATCGAGACCCGACGC chr12:21697407-Variant-C;Patient-91 chr12:21697407-GC Inherited Patient-91 intronic GYS2 6.4e-05 4.95e-05 0.22 6.08 -0.91 RECQL 42803 Variant C ggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttc ACTCTGACACTT CGACGCGGTCTCTCTCTggtggacagtcagctgttagttctataacattttcttgacccgacagaaaCgacttcccacattgcctcagtcactcatgcatttggttgtatactcttcAGAGGGAGACGGACGTCTCAATAAactctgacacttAGATCGAGACCCGACGC chr12:21697407-Variant-C;Patient-91 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative G atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CTAAGCACCAAC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAActaagcaccaacAGATCGAGACCCGACGC chr12:21815198-Alternative-G;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative G atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CTTGCCGGACTA CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAActtgccggactaAGATCGAGACCCGACGC chr12:21815198-Alternative-G;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative G atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CGTGGTTGTCCT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAcgtggttgtcctAGATCGAGACCCGACGC chr12:21815198-Alternative-G;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative G atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GCAACGCGATGT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgcaacgcgatgtAGATCGAGACCCGACGC chr12:21815198-Alternative-G;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Reference T atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GATCGATCCGCT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgatcgatccgctAGATCGAGACCCGACGC chr12:21815198-Reference-T;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative G atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta ATAGTCGGCTAT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgGgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAatagtcggctatAGATCGAGACCCGACGC chr12:21815198-Alternative-G;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Reference T atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CACTTACACCAT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAcacttacaccatAGATCGAGACCCGACGC chr12:21815198-Reference-T;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative C atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta ACTCCGTCACGT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAactccgtcacgtAGATCGAGACCCGACGC chr12:21815198-Alternative-C;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Reference T atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta ACGACATTAGTC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAacgacattagtcAGATCGAGACCCGACGC chr12:21815198-Reference-T;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Variant A atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GTAGGTACTTGT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgtaggtacttgtAGATCGAGACCCGACGC chr12:21815198-Variant-A;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Variant A atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CGAAGGATAGCT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAcgaaggatagctAGATCGAGACCCGACGC chr12:21815198-Variant-A;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Variant A atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta ATCATGGCTTGT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAatcatggcttgtAGATCGAGACCCGACGC chr12:21815198-Variant-A;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Reference T atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta AGCTAATCTGAC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAagctaatctgacAGATCGAGACCCGACGC chr12:21815198-Reference-T;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Reference T atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GGTCAAGTCGTC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgTgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAggtcaagtcgtcAGATCGAGACCCGACGC chr12:21815198-Reference-T;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Variant A atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CGTCCAAGGAAC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAcgtccaaggaacAGATCGAGACCCGACGC chr12:21815198-Variant-A;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Variant A atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GTCATATAGCGA CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgAgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgtcatatagcgaAGATCGAGACCCGACGC chr12:21815198-Variant-A;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative C atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta CTGTTAAGGCGC CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAActgttaaggcgcAGATCGAGACCCGACGC chr12:21815198-Alternative-C;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative C atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GAGTAGCCTATA CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgagtagcctataAGATCGAGACCCGACGC chr12:21815198-Alternative-C;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative C atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta ACTTGATGCGCG CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAacttgatgcgcgAGATCGAGACCCGACGC chr12:21815198-Alternative-C;Patient-60 chr12:21815198-TA DeNovo Patient-60 intergenic 0.000223 0.00205 NA NA NA LDHB 4421 Alternative C atcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagta GAAGATCGCTAT CGACGCGGTCTCTCTCTatcagtgccctgacaaaacagaccactgggctctaccaatcagcaggatgCgggtggggccggacaagagaataaaagcaggctgcccgagccagtagtaAGAGGGAGACGGACGTCTCAATAAgaagatcgctatAGATCGAGACCCGACGC chr12:21815198-Alternative-C;Patient-60 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Reference T tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacata AGTCTAGCTGCG CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAagtctagctgcgAGATCGAGACCCGACGC chr12:21825287-Reference-T;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Reference T tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGACCAATGTGC CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcgaccaatgtgcAGATCGAGACCCGACGC chr12:21825287-Reference-T;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Reference T tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGTATGACTAGT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcgtatgactagtAGATCGAGACCCGACGC chr12:21825287-Reference-T;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Reference T tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacata ATAGGCCGGCTA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAataggccggctaAGATCGAGACCCGACGC chr12:21825287-Reference-T;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative A tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacata ACTGAACCTCGA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAactgaacctcgaAGATCGAGACCCGACGC chr12:21825287-Alternative-A;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative A tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacata GCGCTGCGTAAT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAgcgctgcgtaatAGATCGAGACCCGACGC chr12:21825287-Alternative-A;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative G tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacata GACGGCTCACAT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAgacggctcacatAGATCGAGACCCGACGC chr12:21825287-Alternative-G;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative A tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacata GGAGTTCTGGAG CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAggagttctggagAGATCGAGACCCGACGC chr12:21825287-Alternative-A;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative A tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGGAGTCGAATC CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcggagtcgaatcAGATCGAGACCCGACGC chr12:21825287-Alternative-A;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative G tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGCATCGACTAA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcgcatcgactaaAGATCGAGACCCGACGC chr12:21825287-Alternative-G;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative G tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacata AAGAATGCACAG CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAaagaatgcacagAGATCGAGACCCGACGC chr12:21825287-Alternative-G;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Reference T tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacata AGCCAGAATAAC CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaTtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAagccagaataacAGATCGAGACCCGACGC chr12:21825287-Reference-T;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative A tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacata GGTTGTTCGTGG CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaAtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAggttgttcgtggAGATCGAGACCCGACGC chr12:21825287-Alternative-A;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative G tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacata CTCTAGGCTCGT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAActctaggctcgtAGATCGAGACCCGACGC chr12:21825287-Alternative-G;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Variant C tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacata GCCTGATGTGCA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAgcctgatgtgcaAGATCGAGACCCGACGC chr12:21825287-Variant-C;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Variant C tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGGTCGACGATT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcggtcgacgattAGATCGAGACCCGACGC chr12:21825287-Variant-C;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Variant C tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacata GGTTGAGGCGAA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAggttgaggcgaaAGATCGAGACCCGACGC chr12:21825287-Variant-C;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Variant C tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacata GCCGTGATCGAA CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAgccgtgatcgaaAGATCGAGACCCGACGC chr12:21825287-Variant-C;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Variant C tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacata AGATGAGTCAAG CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaCtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAagatgagtcaagAGATCGAGACCCGACGC chr12:21825287-Variant-C;Patient-7 chr12:21825287-TC DeNovo Patient-7 intergenic NA 0.000513 1.15 14.16 1.44 LDHB 14510 Alternative G tgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacata CGAATTCGCAGT CGACGCGGTCTCTCTCTtgtctaaaaacctgtttctcccgtcttgttcagttttctagttgtttacaGtggcaagcccagaattgtttctatggtggccccagagcctttttacataAGAGGGAGACGGACGTCTCAATAAcgaattcgcagtAGATCGAGACCCGACGC chr12:21825287-Alternative-G;Patient-7 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Variant G gaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattac GACCGATATTCA CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAgaccgatattcaAGATCGAGACCCGACGC chr12:21969002-Variant-G;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Variant G gaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattac GGAACAGTAACT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAggaacagtaactAGATCGAGACCCGACGC chr12:21969002-Variant-G;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Reference T gaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattac CGATGAACAACA CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcgatgaacaacaAGATCGAGACCCGACGC chr12:21969002-Reference-T;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative C gaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattac GATACGAACGGC CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAgatacgaacggcAGATCGAGACCCGACGC chr12:21969002-Alternative-C;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Variant G gaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattac AACTAGCGACTA CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAaactagcgactaAGATCGAGACCCGACGC chr12:21969002-Variant-G;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Reference T gaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattac AGGTGGCTAACG CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAaggtggctaacgAGATCGAGACCCGACGC chr12:21969002-Reference-T;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Variant G gaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattac CAGCACCACCTT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcagcaccaccttAGATCGAGACCCGACGC chr12:21969002-Variant-G;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative A gaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattac GTGTATGTCGGC CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAgtgtatgtcggcAGATCGAGACCCGACGC chr12:21969002-Alternative-A;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative A gaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattac ACGATGTTGGCG CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAacgatgttggcgAGATCGAGACCCGACGC chr12:21969002-Alternative-A;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Reference T gaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattac CGTGCATCACGA CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcgtgcatcacgaAGATCGAGACCCGACGC chr12:21969002-Reference-T;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Reference T gaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattac GAAGATGGACGC CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAgaagatggacgcAGATCGAGACCCGACGC chr12:21969002-Reference-T;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative A gaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattac CATAGCGATCAT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcatagcgatcatAGATCGAGACCCGACGC chr12:21969002-Alternative-A;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative A gaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattac AACGCCTTAGAT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAaacgccttagatAGATCGAGACCCGACGC chr12:21969002-Alternative-A;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Reference T gaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattac CGACTCCTAGTC CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttTttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcgactcctagtcAGATCGAGACCCGACGC chr12:21969002-Reference-T;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Variant G gaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattac GGCTAAGCAACG CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttGttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAggctaagcaacgAGATCGAGACCCGACGC chr12:21969002-Variant-G;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative C gaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattac ACTATTCGTCAC CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAactattcgtcacAGATCGAGACCCGACGC chr12:21969002-Alternative-C;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative C gaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattac CGACACGACCAT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcgacacgaccatAGATCGAGACCCGACGC chr12:21969002-Alternative-C;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative A gaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattac CGAACGTCTAAT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttAttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAcgaacgtctaatAGATCGAGACCCGACGC chr12:21969002-Alternative-A;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative C gaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattac GGTTCCAATGCT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAggttccaatgctAGATCGAGACCCGACGC chr12:21969002-Alternative-C;Patient-27 chr12:21969002-TG DeNovo Patient-27 intronic ABCC9 NA 4.95e-05 -0.01 2.52 0.68 KCNJ8 41246 Alternative C gaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattac ACGTTGTGGATT CGACGCGGTCTCTCTCTgaaccaaactatgtggcagtttttttttttttttttttttttttttttttCttttttttttttagtttaaatcacattcaaataaacaccttttgattacAGAGGGAGACGGACGTCTCAATAAacgttgtggattAGATCGAGACCCGACGC chr12:21969002-Alternative-C;Patient-27 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Reference C ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CGACTGCCAATA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAcgactgccaataAGATCGAGACCCGACGC chr12:22269062-Reference-C;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Reference C ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca AGAGTCAATCGG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAagagtcaatcggAGATCGAGACCCGACGC chr12:22269062-Reference-C;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Reference C ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca ATCGTTCGACCG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAatcgttcgaccgAGATCGAGACCCGACGC chr12:22269062-Reference-C;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Reference C ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca AACTTGTTCGGT CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAaacttgttcggtAGATCGAGACCCGACGC chr12:22269062-Reference-C;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Reference C ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CTTATTCGCAAG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaCgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAActtattcgcaagAGATCGAGACCCGACGC chr12:22269062-Reference-C;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative A ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CGAAGGAATGAA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAcgaaggaatgaaAGATCGAGACCCGACGC chr12:22269062-Alternative-A;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative G ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca GGTGTCGTCTTC CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAggtgtcgtcttcAGATCGAGACCCGACGC chr12:22269062-Alternative-G;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative A ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca AGAGTAGCCTAA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAagagtagcctaaAGATCGAGACCCGACGC chr12:22269062-Alternative-A;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative A ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CTTGTTCTTAGG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAActtgttcttaggAGATCGAGACCCGACGC chr12:22269062-Alternative-A;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Variant T ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca GATCAACGTAGA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAgatcaacgtagaAGATCGAGACCCGACGC chr12:22269062-Variant-T;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative G ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca GCGTTGACTATA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAgcgttgactataAGATCGAGACCCGACGC chr12:22269062-Alternative-G;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative G ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca ACGAGGTACGTT CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAacgaggtacgttAGATCGAGACCCGACGC chr12:22269062-Alternative-G;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Variant T ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca GACATAGCGTAT CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAgacatagcgtatAGATCGAGACCCGACGC chr12:22269062-Variant-T;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative G ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CATGCGTAGACG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAcatgcgtagacgAGATCGAGACCCGACGC chr12:22269062-Alternative-G;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative A ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca GATAGGCTGTAA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAgataggctgtaaAGATCGAGACCCGACGC chr12:22269062-Alternative-A;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative G ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca AACTCACGACTA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaGgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAaactcacgactaAGATCGAGACCCGACGC chr12:22269062-Alternative-G;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Variant T ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CAACAGACACCG CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAcaacagacaccgAGATCGAGACCCGACGC chr12:22269062-Variant-T;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Variant T ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca ATCGTGTTCGAA CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAatcgtgttcgaaAGATCGAGACCCGACGC chr12:22269062-Variant-T;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Variant T ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca CTCAATCGCGTC CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaTgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAActcaatcgcgtcAGATCGAGACCCGACGC chr12:22269062-Variant-T;Patient-35 chr12:22269062-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.53 0.07 -0.47 CMAS 69951 Alternative A ttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctca AGTACCGCCATC CGACGCGGTCTCTCTCTttctgtatcccgagctcttgcccagcatcccggaagaatcgggtaatacaAgggcttgaaggatgaatgtgaggttttattgagtggtggaggttgctcaAGAGGGAGACGGACGTCTCAATAAagtaccgccatcAGATCGAGACCCGACGC chr12:22269062-Alternative-A;Patient-35 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Reference G aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CTCGTTGTGGAG CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAActcgttgtggagAGATCGAGACCCGACGC chr12:25472059-Reference-G;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Reference G aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CAACGTCTAGCT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAcaacgtctagctAGATCGAGACCCGACGC chr12:25472059-Reference-G;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Variant T aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GGTTCATGGCGA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAggttcatggcgaAGATCGAGACCCGACGC chr12:25472059-Variant-T;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Reference G aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GTGAACGATCAA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgtgaacgatcaaAGATCGAGACCCGACGC chr12:25472059-Reference-G;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Variant T aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GATCAACTTCGA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgatcaacttcgaAGATCGAGACCCGACGC chr12:25472059-Variant-T;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Reference G aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CAACCTTCACGA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAcaaccttcacgaAGATCGAGACCCGACGC chr12:25472059-Reference-G;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Variant T aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GCAATGGTAGTT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgcaatggtagttAGATCGAGACCCGACGC chr12:25472059-Variant-T;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Reference G aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CGAGTAGTCATA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgGgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAcgagtagtcataAGATCGAGACCCGACGC chr12:25472059-Reference-G;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative A aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GTTAGCGGCCAT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgttagcggccatAGATCGAGACCCGACGC chr12:25472059-Alternative-A;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative A aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg AGATGTAATCGC CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAagatgtaatcgcAGATCGAGACCCGACGC chr12:25472059-Alternative-A;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Variant T aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg ACGATTCTCGTT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAacgattctcgttAGATCGAGACCCGACGC chr12:25472059-Variant-T;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Variant T aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CGTTAAGATGCT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgTgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAcgttaagatgctAGATCGAGACCCGACGC chr12:25472059-Variant-T;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative A aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GACTGCGTAGCA CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgactgcgtagcaAGATCGAGACCCGACGC chr12:25472059-Alternative-A;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative C aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg ATAGGTCCGTCG CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAataggtccgtcgAGATCGAGACCCGACGC chr12:25472059-Alternative-C;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative A aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg AATAGGACGACT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAaataggacgactAGATCGAGACCCGACGC chr12:25472059-Alternative-A;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative C aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg AGTCAGCTTAGT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAagtcagcttagtAGATCGAGACCCGACGC chr12:25472059-Alternative-C;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative C aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg ATTGGCGAACTT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAattggcgaacttAGATCGAGACCCGACGC chr12:25472059-Alternative-C;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative C aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg CATCTAAGTAGG CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAcatctaagtaggAGATCGAGACCCGACGC chr12:25472059-Alternative-C;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative A aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GGCTAATGAGTT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgAgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAggctaatgagttAGATCGAGACCCGACGC chr12:25472059-Alternative-A;Patient-44 chr12:25472059-GT DeNovo Patient-44 intergenic NA 0.000513 -0.29 0.38 -1.07 KRAS 68204 Alternative C aggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtg GTGCCTCGCTAT CGACGCGGTCTCTCTCTaggtgcggtggctcatgcccgtaatcccagcactttgggaggtagaggtgCgcagatcacctgaggtcagaagtttgagatcagcctggctaacatggtgAGAGGGAGACGGACGTCTCAATAAgtgcctcgctatAGATCGAGACCCGACGC chr12:25472059-Alternative-C;Patient-44 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Reference G gactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat AACGATGCTAGA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAaacgatgctagaAGATCGAGACCCGACGC chr12:26317374-Reference-G;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Reference G gactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat ACAATAGCTCGG CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAacaatagctcggAGATCGAGACCCGACGC chr12:26317374-Reference-G;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Reference G gactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GTAGTATCAGCT CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgtagtatcagctAGATCGAGACCCGACGC chr12:26317374-Reference-G;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Reference G gactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GTCCGACGAATC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgtccgacgaatcAGATCGAGACCCGACGC chr12:26317374-Reference-G;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Reference G gactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat AACGTTACGCTA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccGaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAaacgttacgctaAGATCGAGACCCGACGC chr12:26317374-Reference-G;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Variant A gactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GTTACGTGCTAA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgttacgtgctaaAGATCGAGACCCGACGC chr12:26317374-Variant-A;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative T gactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GACGTATCCGAC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgacgtatccgacAGATCGAGACCCGACGC chr12:26317374-Alternative-T;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative T gactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat CGGTCTGCCAAT CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAcggtctgccaatAGATCGAGACCCGACGC chr12:26317374-Alternative-T;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative T gactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GTGATGATGCGC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgtgatgatgcgcAGATCGAGACCCGACGC chr12:26317374-Alternative-T;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Variant A gactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GTGCGAAGGAAC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgtgcgaaggaacAGATCGAGACCCGACGC chr12:26317374-Variant-A;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative T gactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat ATACTACGGTTC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAatactacggttcAGATCGAGACCCGACGC chr12:26317374-Alternative-T;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Variant A gactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GCCACGTGGTAA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgccacgtggtaaAGATCGAGACCCGACGC chr12:26317374-Variant-A;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative T gactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat CGGAGTGTTCGA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccTaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAcggagtgttcgaAGATCGAGACCCGACGC chr12:26317374-Alternative-T;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Variant A gactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat CGTACGAGGAGT CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAcgtacgaggagtAGATCGAGACCCGACGC chr12:26317374-Variant-A;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative C gactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat AGCAATCGACAG CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAagcaatcgacagAGATCGAGACCCGACGC chr12:26317374-Alternative-C;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Variant A gactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat CTATTGCGGCCA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccAaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAActattgcggccaAGATCGAGACCCGACGC chr12:26317374-Variant-A;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative C gactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat AGTTACGCACCA CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAagttacgcaccaAGATCGAGACCCGACGC chr12:26317374-Alternative-C;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative C gactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat GACTAACCGAAT CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAgactaaccgaatAGATCGAGACCCGACGC chr12:26317374-Alternative-C;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative C gactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat ACGTATGTATCG CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAacgtatgtatcgAGATCGAGACCCGACGC chr12:26317374-Alternative-C;Patient-88 chr12:26317374-GA DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.01 2.84 0.24 BHLHE41 39370 Alternative C gactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctat AAGTTACCTGAC CGACGCGGTCTCTCTCTgactttcatacatctaaacctatgacataatcccagcactttgggaggccCaggtggaaggattgcttgaggccatgtgttctaggctgcagtgagctatAGAGGGAGACGGACGTCTCAATAAaagttacctgacAGATCGAGACCCGACGC chr12:26317374-Alternative-C;Patient-88 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Variant C gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaa CGGTCCGACTTA CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAcggtccgacttaAGATCGAGACCCGACGC chr12:26323389-Variant-C;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Variant C gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaa CAGCACATGACC CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAcagcacatgaccAGATCGAGACCCGACGC chr12:26323389-Variant-C;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Variant C gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GATACGTGCACA CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgatacgtgcacaAGATCGAGACCCGACGC chr12:26323389-Variant-C;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Variant C gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GCATCACGTATA CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgcatcacgtataAGATCGAGACCCGACGC chr12:26323389-Variant-C;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative A gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaa ACCTGAGGCCTT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAacctgaggccttAGATCGAGACCCGACGC chr12:26323389-Alternative-A;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Variant C gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GATAGGAGGTCG CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactCcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgataggaggtcgAGATCGAGACCCGACGC chr12:26323389-Variant-C;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative A gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GAATGGTAACGT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgaatggtaacgtAGATCGAGACCCGACGC chr12:26323389-Alternative-A;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative A gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GAGATCCTGTCG CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgagatcctgtcgAGATCGAGACCCGACGC chr12:26323389-Alternative-A;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Reference T gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GACGATTGAACT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgacgattgaactAGATCGAGACCCGACGC chr12:26323389-Reference-T;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative A gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaa CGCCTCCGATAT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAcgcctccgatatAGATCGAGACCCGACGC chr12:26323389-Alternative-A;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative G gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaa AGCATCGTGCGT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAagcatcgtgcgtAGATCGAGACCCGACGC chr12:26323389-Alternative-G;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative G gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GTACACGAGAAG CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgtacacgagaagAGATCGAGACCCGACGC chr12:26323389-Alternative-G;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative G gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaa ACTTCTCGTAGT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAacttctcgtagtAGATCGAGACCCGACGC chr12:26323389-Alternative-G;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Reference T gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaa ACGGTCTACGAC CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAacggtctacgacAGATCGAGACCCGACGC chr12:26323389-Reference-T;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative G gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaa ACTCGGCCATTC CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAactcggccattcAGATCGAGACCCGACGC chr12:26323389-Alternative-G;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative G gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaa CTTGGATTAGCA CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactGcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAActtggattagcaAGATCGAGACCCGACGC chr12:26323389-Alternative-G;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Reference T gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GTATACTCGGAT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgtatactcggatAGATCGAGACCCGACGC chr12:26323389-Reference-T;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Reference T gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaa GATAGCTAACGC CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAgatagctaacgcAGATCGAGACCCGACGC chr12:26323389-Reference-T;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Alternative A gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaa CAACTATGCCAT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactAcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAcaactatgccatAGATCGAGACCCGACGC chr12:26323389-Alternative-A;Patient-25 chr12:26323389-TC Inherited Patient-25 intergenic NA 0.000513 0.89 12.55 3.53 SSPN 24879 Reference T gtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaa ATAGCCGTAGTT CGACGCGGTCTCTCTCTgtcctaagcccttaatagaacatcttcctccaatgatattaaagtagactTcataatatagtgctattttaagagtcttcatgtattttctgagatccaaAGAGGGAGACGGACGTCTCAATAAatagccgtagttAGATCGAGACCCGACGC chr12:26323389-Reference-T;Patient-25 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative T gtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ACAGACGAACGT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAacagacgaacgtAGATCGAGACCCGACGC chr12:26918061-Alternative-T;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative T gtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GCGGATCGTACA CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAgcggatcgtacaAGATCGAGACCCGACGC chr12:26918061-Alternative-T;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Variant G gtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ACTTAGTCATGG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAacttagtcatggAGATCGAGACCCGACGC chr12:26918061-Variant-G;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Variant G gtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ACCGACTAACGT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAaccgactaacgtAGATCGAGACCCGACGC chr12:26918061-Variant-G;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Variant G gtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GTCAACAACGTT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAgtcaacaacgttAGATCGAGACCCGACGC chr12:26918061-Variant-G;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative T gtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GCCGTACTAATT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAgccgtactaattAGATCGAGACCCGACGC chr12:26918061-Alternative-T;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Variant G gtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CGTAACCAACAG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAcgtaaccaacagAGATCGAGACCCGACGC chr12:26918061-Variant-G;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Reference A gtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ACTCTGCGGAGA CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAactctgcggagaAGATCGAGACCCGACGC chr12:26918061-Reference-A;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Reference A gtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CTCACATGCGCA CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAActcacatgcgcaAGATCGAGACCCGACGC chr12:26918061-Reference-A;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative C gtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CTGTCAATGGCG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAActgtcaatggcgAGATCGAGACCCGACGC chr12:26918061-Alternative-C;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative T gtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GGATGGAATGGT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAggatggaatggtAGATCGAGACCCGACGC chr12:26918061-Alternative-T;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative C gtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CTAATATCGACG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAActaatatcgacgAGATCGAGACCCGACGC chr12:26918061-Alternative-C;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative T gtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CGTTATGTCTAC CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccTcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAcgttatgtctacAGATCGAGACCCGACGC chr12:26918061-Alternative-T;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Variant G gtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga AGTCGTATCCGC CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccGcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAagtcgtatccgcAGATCGAGACCCGACGC chr12:26918061-Variant-G;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative C gtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GCCAATATTCGG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAgccaatattcggAGATCGAGACCCGACGC chr12:26918061-Alternative-C;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative C gtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ACGGTGGATACG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAacggtggatacgAGATCGAGACCCGACGC chr12:26918061-Alternative-C;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Alternative C gtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga GCCGCTAGTAAT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccCcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAgccgctagtaatAGATCGAGACCCGACGC chr12:26918061-Alternative-C;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Reference A gtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CGATTGTCTACG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAcgattgtctacgAGATCGAGACCCGACGC chr12:26918061-Reference-A;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Reference A gtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga CTCGGTTACAGG CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAActcggttacaggAGATCGAGACCCGACGC chr12:26918061-Reference-A;Patient-57 chr12:26918061-AG DeNovo Patient-57 intronic ITPR2 0.000733 0.000445 -0.11 1.32 -1.17 ITPR2 68069 Reference A gtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatggga ATCCGCCGTGTT CGACGCGGTCTCTCTCTgtggcataacctacaacatattttgtataagtagaacttgaacaatacccAcagaattttgtatgaaaagtcaacaaaatagcccgtattttctatgggaAGAGGGAGACGGACGTCTCAATAAatccgccgtgttAGATCGAGACCCGACGC chr12:26918061-Reference-A;Patient-57 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Reference A tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ATACGAAGCACG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAatacgaagcacgAGATCGAGACCCGACGC chr12:27270909-Reference-A;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Variant G tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ACGACCGGACAT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAacgaccggacatAGATCGAGACCCGACGC chr12:27270909-Variant-G;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Variant G tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat GTTGATGAATCG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAgttgatgaatcgAGATCGAGACCCGACGC chr12:27270909-Variant-G;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Variant G tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ATAAGTTCTGCG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAataagttctgcgAGATCGAGACCCGACGC chr12:27270909-Variant-G;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Reference A tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat GCGATAGCAGCA CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAgcgatagcagcaAGATCGAGACCCGACGC chr12:27270909-Reference-A;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Reference A tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ATCCGTACGCCT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAatccgtacgcctAGATCGAGACCCGACGC chr12:27270909-Reference-A;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Variant G tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CGCTATCTAACG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAcgctatctaacgAGATCGAGACCCGACGC chr12:27270909-Variant-G;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative C tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ACGCGTATGCGA CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAacgcgtatgcgaAGATCGAGACCCGACGC chr12:27270909-Alternative-C;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative T tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat AAGTATCCTTCG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAaagtatccttcgAGATCGAGACCCGACGC chr12:27270909-Alternative-T;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Variant G tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat AGCGTATACGTC CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaGtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAagcgtatacgtcAGATCGAGACCCGACGC chr12:27270909-Variant-G;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative T tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CGGAACGCACTT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAcggaacgcacttAGATCGAGACCCGACGC chr12:27270909-Alternative-T;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Reference A tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ACGATCTCATGA CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAacgatctcatgaAGATCGAGACCCGACGC chr12:27270909-Reference-A;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative T tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat GCATGCGATAGG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAgcatgcgataggAGATCGAGACCCGACGC chr12:27270909-Alternative-T;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative C tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ATATGGCGCGAT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAatatggcgcgatAGATCGAGACCCGACGC chr12:27270909-Alternative-C;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative T tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CGCGTACTACAC CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAcgcgtactacacAGATCGAGACCCGACGC chr12:27270909-Alternative-T;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative T tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CTACACGTTGTT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaTtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAActacacgttgttAGATCGAGACCCGACGC chr12:27270909-Alternative-T;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Reference A tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CGAGCCATACTA CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaAtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAcgagccatactaAGATCGAGACCCGACGC chr12:27270909-Reference-A;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative C tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat CGAGATAGCGGT CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAcgagatagcggtAGATCGAGACCCGACGC chr12:27270909-Alternative-C;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative C tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat GCAAGTTGTATC CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAgcaagttgtatcAGATCGAGACCCGACGC chr12:27270909-Alternative-C;Patient-83 chr12:27270909-AG DeNovo Patient-83 intergenic NA 0.00016 -0.06 1.86 0.12 MED21 95453 Alternative C tttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttat ACTTAACAGTCG CGACGCGGTCTCTCTCTtttaggatagttagctcttcttgttgagttgatccgtttaccattatgtaCtggcctactttgtctcttttgatctttgtaggtttaaagtctgttttatAGAGGGAGACGGACGTCTCAATAAacttaacagtcgAGATCGAGACCCGACGC chr12:27270909-Alternative-C;Patient-83 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Variant C gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattc GAGTCACGACAG CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgagtcacgacagAGATCGAGACCCGACGC chr12:28086473-Variant-C;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Variant C gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattc CTCACGATTCGT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAActcacgattcgtAGATCGAGACCCGACGC chr12:28086473-Variant-C;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Variant C gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattc GTTGGAACGCGA CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgttggaacgcgaAGATCGAGACCCGACGC chr12:28086473-Variant-C;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Variant C gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattc AGAAGTTCTGCT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAagaagttctgctAGATCGAGACCCGACGC chr12:28086473-Variant-C;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Variant C gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattc CTTAATGGATCG CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttCattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAActtaatggatcgAGATCGAGACCCGACGC chr12:28086473-Variant-C;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative A gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattc GTTGTGTTATGG CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgttgtgttatggAGATCGAGACCCGACGC chr12:28086473-Alternative-A;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative A gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattc GATTGCGTACTA CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgattgcgtactaAGATCGAGACCCGACGC chr12:28086473-Alternative-A;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative A gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattc CTAGCGTATTGT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAActagcgtattgtAGATCGAGACCCGACGC chr12:28086473-Alternative-A;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative A gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattc ACGTTCCAAGAT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAacgttccaagatAGATCGAGACCCGACGC chr12:28086473-Alternative-A;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative A gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattc CATGCTCACGCA CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttAattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAcatgctcacgcaAGATCGAGACCCGACGC chr12:28086473-Alternative-A;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Reference T gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattc AAGCACGCGCTT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAaagcacgcgcttAGATCGAGACCCGACGC chr12:28086473-Reference-T;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Reference T gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattc GTTAACTATCGC CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgttaactatcgcAGATCGAGACCCGACGC chr12:28086473-Reference-T;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Reference T gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattc GCATCTGGTCGA CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgcatctggtcgaAGATCGAGACCCGACGC chr12:28086473-Reference-T;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Reference T gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattc GCATCGTTACGG CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgcatcgttacggAGATCGAGACCCGACGC chr12:28086473-Reference-T;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Reference T gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattc ACGACGTCCACA CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttTattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAacgacgtccacaAGATCGAGACCCGACGC chr12:28086473-Reference-T;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative G gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattc GCACCTAACGGT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgcacctaacggtAGATCGAGACCCGACGC chr12:28086473-Alternative-G;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative G gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattc CGGACTAATCGC CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAcggactaatcgcAGATCGAGACCCGACGC chr12:28086473-Alternative-G;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative G gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattc AATGGCCGACAC CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAaatggccgacacAGATCGAGACCCGACGC chr12:28086473-Alternative-G;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative G gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattc GCGTAACGGTGT CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgcgtaacggtgtAGATCGAGACCCGACGC chr12:28086473-Alternative-G;Patient-30 chr12:28086473-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PTHLH 38442 Alternative G gtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattc GCAATGTCTCGG CGACGCGGTCTCTCTCTgtgctagagaaatatgcaacattattctccaaaatagtgtttctcactttGattttttgggagatgctaaatacatgttcactctactgttttctcattcAGAGGGAGACGGACGTCTCAATAAgcaatgtctcggAGATCGAGACCCGACGC chr12:28086473-Alternative-G;Patient-30 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative G aaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AATGAGCATCGA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAaatgagcatcgaAGATCGAGACCCGACGC chr12:28139711-Alternative-G;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative G aaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AAGGCTTGATGT CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAaaggcttgatgtAGATCGAGACCCGACGC chr12:28139711-Alternative-G;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative G aaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgca CTGGTGTAATCA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAActggtgtaatcaAGATCGAGACCCGACGC chr12:28139711-Alternative-G;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative G aaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AGTGCGAATAAC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAagtgcgaataacAGATCGAGACCCGACGC chr12:28139711-Alternative-G;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative G aaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AAGGAACAAGCA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggGcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAaaggaacaagcaAGATCGAGACCCGACGC chr12:28139711-Alternative-G;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative T aaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgca GACCTGCGTAAC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAgacctgcgtaacAGATCGAGACCCGACGC chr12:28139711-Alternative-T;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative T aaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AATAGGTTAGCG CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAaataggttagcgAGATCGAGACCCGACGC chr12:28139711-Alternative-T;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative T aaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgca CAGGCGTGAGAA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAcaggcgtgagaaAGATCGAGACCCGACGC chr12:28139711-Alternative-T;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative T aaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgca AGCTTGTTGGAT CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAagcttgttggatAGATCGAGACCCGACGC chr12:28139711-Alternative-T;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Alternative T aaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgca CTGCTATAACAG CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggTcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAActgctataacagAGATCGAGACCCGACGC chr12:28139711-Alternative-T;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Reference A aaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgca ACGCTACAAGAT CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAacgctacaagatAGATCGAGACCCGACGC chr12:28139711-Reference-A;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Variant C aaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgca ACGAGTAATGCA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAacgagtaatgcaAGATCGAGACCCGACGC chr12:28139711-Variant-C;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Variant C aaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgca ATTGAGGAGTCT CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAattgaggagtctAGATCGAGACCCGACGC chr12:28139711-Variant-C;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Reference A aaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgca CAAGGTAGATGG CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAcaaggtagatggAGATCGAGACCCGACGC chr12:28139711-Reference-A;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Variant C aaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgca CACGCACGCTAT CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAcacgcacgctatAGATCGAGACCCGACGC chr12:28139711-Variant-C;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Reference A aaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgca ACAAGCCTTAAC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAacaagccttaacAGATCGAGACCCGACGC chr12:28139711-Reference-A;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Variant C aaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgca GTCGTTGATCAA CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAgtcgttgatcaaAGATCGAGACCCGACGC chr12:28139711-Variant-C;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Variant C aaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgca GCGAATAACAAC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggCcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAgcgaataacaacAGATCGAGACCCGACGC chr12:28139711-Variant-C;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Reference A aaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgca GGCTTAATGCGC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAggcttaatgcgcAGATCGAGACCCGACGC chr12:28139711-Reference-A;Patient-68 chr12:28139711-AC Inherited Patient-68 intergenic 6.6e-05 0.00154 0.03 3.04 0.03 PTHLH 14794 Reference A aaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgca GACCAAGTTATC CGACGCGGTCTCTCTCTaaacttggagtcaccagggaagacagagcatatttcattttttttctaggAcaccgtttttccccccctaacctattaacctctctaaaattacgccgcaAGAGGGAGACGGACGTCTCAATAAgaccaagttatcAGATCGAGACCCGACGC chr12:28139711-Reference-A;Patient-68 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative T tcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CGAGGACGATTA CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcgaggacgattaAGATCGAGACCCGACGC chr12:34210441-Alternative-T;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Reference G tcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AATCGGAAGCGG CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaatcggaagcggAGATCGAGACCCGACGC chr12:34210441-Reference-G;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative T tcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AGGACCGAAGCT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaggaccgaagctAGATCGAGACCCGACGC chr12:34210441-Alternative-T;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative C tcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GATAGATGCCGG CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgatagatgccggAGATCGAGACCCGACGC chr12:34210441-Alternative-C;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Reference G tcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CAATTGGACAAG CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcaattggacaagAGATCGAGACCCGACGC chr12:34210441-Reference-G;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Variant A tcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GACCTACCTGCT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgacctacctgctAGATCGAGACCCGACGC chr12:34210441-Variant-A;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative C tcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AAGCGCAACTAA CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaagcgcaactaaAGATCGAGACCCGACGC chr12:34210441-Alternative-C;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative C tcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AATAGACAGTCG CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaatagacagtcgAGATCGAGACCCGACGC chr12:34210441-Alternative-C;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Reference G tcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CGAATTGCGCGA CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcgaattgcgcgaAGATCGAGACCCGACGC chr12:34210441-Reference-G;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Variant A tcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GTCTCTTGCGTC CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgtctcttgcgtcAGATCGAGACCCGACGC chr12:34210441-Variant-A;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative C tcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GTAGATGCGTAA CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgtagatgcgtaaAGATCGAGACCCGACGC chr12:34210441-Alternative-C;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Variant A tcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CAACACCGTCAC CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcaacaccgtcacAGATCGAGACCCGACGC chr12:34210441-Variant-A;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Reference G tcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggta ACGTCGTGTGGT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAacgtcgtgtggtAGATCGAGACCCGACGC chr12:34210441-Reference-G;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Variant A tcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CAAGCGGACCAT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcaagcggaccatAGATCGAGACCCGACGC chr12:34210441-Variant-A;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Variant A tcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AGGTAGCACAAT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataAgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaggtagcacaatAGATCGAGACCCGACGC chr12:34210441-Variant-A;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Reference G tcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GCCAATGAGAAG CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataGgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgccaatgagaagAGATCGAGACCCGACGC chr12:34210441-Reference-G;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative T tcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggta AAGGTAACGTCC CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAaaggtaacgtccAGATCGAGACCCGACGC chr12:34210441-Alternative-T;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative T tcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggta GTGAATGGCATA CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAgtgaatggcataAGATCGAGACCCGACGC chr12:34210441-Alternative-T;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative C tcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CTACCGGTAGCT CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataCgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAActaccggtagctAGATCGAGACCCGACGC chr12:34210441-Alternative-C;Patient-109 chr12:34210441-GA DeNovo Patient-109 intergenic NA 3.84e-05 0.15 5.15 2.05 ALG10 35224 Alternative T tcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggta CGCTCAATCGTC CGACGCGGTCTCTCTCTtcaaaggattctgattccattttgacagctttctttacttgacactcataTgccccacacttactaaagggctgagttggtaccacagcactgaaaggtaAGAGGGAGACGGACGTCTCAATAAcgctcaatcgtcAGATCGAGACCCGACGC chr12:34210441-Alternative-T;Patient-109 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Variant C gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GTAGGTTCCAGG CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAgtaggttccaggAGATCGAGACCCGACGC chr12:34228455-Variant-C;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Variant C gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GTCATGAGGCGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAgtcatgaggcgtAGATCGAGACCCGACGC chr12:34228455-Variant-C;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Variant C gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg ACATCGAGGAGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAacatcgaggagtAGATCGAGACCCGACGC chr12:34228455-Variant-C;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Reference G gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg CAAGCTCAACCT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAcaagctcaacctAGATCGAGACCCGACGC chr12:34228455-Reference-G;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Variant C gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg ATCTCAAGCGGC CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAatctcaagcggcAGATCGAGACCCGACGC chr12:34228455-Variant-C;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative T gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg AGTCGATTACAC CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAagtcgattacacAGATCGAGACCCGACGC chr12:34228455-Alternative-T;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative T gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg ATTCCTCGCCAA CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAattcctcgccaaAGATCGAGACCCGACGC chr12:34228455-Alternative-T;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative A gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg ATAATCGGCTGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAataatcggctgtAGATCGAGACCCGACGC chr12:34228455-Alternative-A;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative A gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg CGTAGCTAACGC CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAcgtagctaacgcAGATCGAGACCCGACGC chr12:34228455-Alternative-A;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Variant C gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GACGGCCATTGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgCaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAgacggccattgtAGATCGAGACCCGACGC chr12:34228455-Variant-C;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Reference G gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GTGATACTGCGC CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAgtgatactgcgcAGATCGAGACCCGACGC chr12:34228455-Reference-G;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative T gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg ACGTGATGACGC CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAacgtgatgacgcAGATCGAGACCCGACGC chr12:34228455-Alternative-T;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Reference G gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg AGGAAGTGGCGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAaggaagtggcgtAGATCGAGACCCGACGC chr12:34228455-Reference-G;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative T gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg CTACAATTGCGA CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAActacaattgcgaAGATCGAGACCCGACGC chr12:34228455-Alternative-T;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative T gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GTAAGCGACGGT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgTaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAgtaagcgacggtAGATCGAGACCCGACGC chr12:34228455-Alternative-T;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Reference G gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg CTGCTAGGAGCT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAActgctaggagctAGATCGAGACCCGACGC chr12:34228455-Reference-G;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative A gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GGCTTCGCTCTT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAggcttcgctcttAGATCGAGACCCGACGC chr12:34228455-Alternative-A;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Reference G gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg GGCGCTAATCGA CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgGaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAggcgctaatcgaAGATCGAGACCCGACGC chr12:34228455-Reference-G;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative A gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg CGACCGGCATAT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAcgaccggcatatAGATCGAGACCCGACGC chr12:34228455-Alternative-A;Patient-104 chr12:34228455-GC DeNovo Patient-104 intergenic NA 3.91e-05 -0.46 0.12 0 ALG10 53238 Alternative A gagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatgg AATGCCTCGAAT CGACGCGGTCTCTCTCTgagaactacaaatcactgctcaatgaaatcaaagaggatacaaagaaatgAaagaacattccatgctcatgggtaggaaaaatcaatattgtgaaaatggAGAGGGAGACGGACGTCTCAATAAaatgcctcgaatAGATCGAGACCCGACGC chr12:34228455-Alternative-A;Patient-104 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Variant A atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaa AGAGTCATATCG CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAagagtcatatcgAGATCGAGACCCGACGC chr12:38792144-Variant-A;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Variant A atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaa GGATAGAAGCTA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAggatagaagctaAGATCGAGACCCGACGC chr12:38792144-Variant-A;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Variant A atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaa GGTAGCACATTC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAggtagcacattcAGATCGAGACCCGACGC chr12:38792144-Variant-A;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Variant A atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaa CGTAGGTGTCAC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAcgtaggtgtcacAGATCGAGACCCGACGC chr12:38792144-Variant-A;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative T atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaa AGCGTGCGAGTT CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAagcgtgcgagttAGATCGAGACCCGACGC chr12:38792144-Alternative-T;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Reference G atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaa ATAACGCAAGTC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAataacgcaagtcAGATCGAGACCCGACGC chr12:38792144-Reference-G;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative T atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaa GCGTAATACTTC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAgcgtaatacttcAGATCGAGACCCGACGC chr12:38792144-Alternative-T;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative C atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaa CGATGGCTACAT CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAcgatggctacatAGATCGAGACCCGACGC chr12:38792144-Alternative-C;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative T atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaa GTAGATAGGCGC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAgtagataggcgcAGATCGAGACCCGACGC chr12:38792144-Alternative-T;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative C atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaa ATAATGGCCGGC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAataatggccggcAGATCGAGACCCGACGC chr12:38792144-Alternative-C;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative C atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaa ATAGACGACGGC CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAatagacgacggcAGATCGAGACCCGACGC chr12:38792144-Alternative-C;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative T atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaa CTTGCGACACAT CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAActtgcgacacatAGATCGAGACCCGACGC chr12:38792144-Alternative-T;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative C atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaa AGCAGACTATGA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAagcagactatgaAGATCGAGACCCGACGC chr12:38792144-Alternative-C;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Reference G atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaa GTAGTCGGACGA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAgtagtcggacgaAGATCGAGACCCGACGC chr12:38792144-Reference-G;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Reference G atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaa AATAGTCGTCCA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAaatagtcgtccaAGATCGAGACCCGACGC chr12:38792144-Reference-G;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Variant A atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaa GAGCAGGCCATT CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcAatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAgagcaggccattAGATCGAGACCCGACGC chr12:38792144-Variant-A;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Reference G atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaa ACGCGCATATAA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAacgcgcatataaAGATCGAGACCCGACGC chr12:38792144-Reference-G;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Reference G atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaa AGGTGTCGGACA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcGatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAaggtgtcggacaAGATCGAGACCCGACGC chr12:38792144-Reference-G;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative C atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaa ACCTGAGATGAA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcCatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAacctgagatgaaAGATCGAGACCCGACGC chr12:38792144-Alternative-C;Patient-10 chr12:38792144-GA DeNovo Patient-10 intergenic 3.2e-05 0.000513 -0.14 1.08 -0.26 ALG10B 81763 Alternative T atctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaa CGCGAAGTTACA CGACGCGGTCTCTCTCTatctagaaatgtcttaatttcttcttcattttagaattatagttttgctcTatttagaattcttagttgacaatccttttctttcagcactttaaataaaAGAGGGAGACGGACGTCTCAATAAcgcgaagttacaAGATCGAGACCCGACGC chr12:38792144-Alternative-T;Patient-10 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Reference A ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaagga GAGCAGCTTACA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgagcagcttacaAGATCGAGACCCGACGC chr12:40522298-Reference-A;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Variant G ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaagga ACGCTAGCGGTT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAacgctagcggttAGATCGAGACCCGACGC chr12:40522298-Variant-G;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Variant G ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaagga GTGATAACGAGT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgtgataacgagtAGATCGAGACCCGACGC chr12:40522298-Variant-G;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Reference A ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaagga ATATGACCACGT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAatatgaccacgtAGATCGAGACCCGACGC chr12:40522298-Reference-A;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Variant G ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaagga CTCGGCATGACT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAActcggcatgactAGATCGAGACCCGACGC chr12:40522298-Variant-G;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Variant G ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaagga AGCGTGATTCGG CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAagcgtgattcggAGATCGAGACCCGACGC chr12:40522298-Variant-G;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Variant G ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaagga AAGGTGTTCCAT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttGtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAaaggtgttccatAGATCGAGACCCGACGC chr12:40522298-Variant-G;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Reference A ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaagga AGCAACGCAATA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAagcaacgcaataAGATCGAGACCCGACGC chr12:40522298-Reference-A;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative T ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaagga ATAGGCACCTAT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAataggcacctatAGATCGAGACCCGACGC chr12:40522298-Alternative-T;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative C ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaagga GTGACTCGAAGG CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgtgactcgaaggAGATCGAGACCCGACGC chr12:40522298-Alternative-C;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative T ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaagga GTGACTCTCGCT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgtgactctcgctAGATCGAGACCCGACGC chr12:40522298-Alternative-T;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative T ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaagga GTTGATGACACT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgttgatgacactAGATCGAGACCCGACGC chr12:40522298-Alternative-T;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative C ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaagga AATGTGCGTTCA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAaatgtgcgttcaAGATCGAGACCCGACGC chr12:40522298-Alternative-C;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative T ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaagga CGGATAACAACA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAcggataacaacaAGATCGAGACCCGACGC chr12:40522298-Alternative-T;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Reference A ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaagga CGGTGTACTATA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAcggtgtactataAGATCGAGACCCGACGC chr12:40522298-Reference-A;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative C ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaagga ATTGTGCTCGAA CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAattgtgctcgaaAGATCGAGACCCGACGC chr12:40522298-Alternative-C;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative C ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaagga CTACGGTCCGTT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAActacggtccgttAGATCGAGACCCGACGC chr12:40522298-Alternative-C;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative T ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaagga CGCAAGCAATGT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttTtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAcgcaagcaatgtAGATCGAGACCCGACGC chr12:40522298-Alternative-T;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Reference A ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaagga CAGCGATTGCGT CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttAtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAcagcgattgcgtAGATCGAGACCCGACGC chr12:40522298-Reference-A;Patient-21 chr12:40522298-AG Inherited Patient-21 intergenic NA 0.000513 0.04 3.24 0.44 LRRK2 96577 Alternative C ccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaagga GTTACTTGCATC CGACGCGGTCTCTCTCTccaagatggtcccctgaagcaaccaatgtcaatgatttctgtctttagttCtattggtggttgccagaaaagagagatagatttaccctacagctaaggaAGAGGGAGACGGACGTCTCAATAAgttacttgcatcAGATCGAGACCCGACGC chr12:40522298-Alternative-C;Patient-21 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Variant G aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttca AGCCGCGATTCT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAagccgcgattctAGATCGAGACCCGACGC chr12:40615662-Variant-G;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Variant G aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttca CTACCGTCACGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAActaccgtcacgtAGATCGAGACCCGACGC chr12:40615662-Variant-G;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Variant G aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttca ACGAGTCACGAT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAacgagtcacgatAGATCGAGACCCGACGC chr12:40615662-Variant-G;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Reference T aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttca GTTCGATAACGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgttcgataacgtAGATCGAGACCCGACGC chr12:40615662-Reference-T;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative C aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttca AACGAGGCGTCT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAaacgaggcgtctAGATCGAGACCCGACGC chr12:40615662-Alternative-C;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Reference T aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttca CAGTATATCGGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAcagtatatcggtAGATCGAGACCCGACGC chr12:40615662-Reference-T;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Reference T aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttca CGGCTTGGAACA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAcggcttggaacaAGATCGAGACCCGACGC chr12:40615662-Reference-T;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative C aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttca CATCTGCACCGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAcatctgcaccgtAGATCGAGACCCGACGC chr12:40615662-Alternative-C;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative C aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttca GCATTCTCCTAA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgcattctcctaaAGATCGAGACCCGACGC chr12:40615662-Alternative-C;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Variant G aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttca GCGGTGAACTGA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgcggtgaactgaAGATCGAGACCCGACGC chr12:40615662-Variant-G;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Variant G aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttca CAATAGGACCTT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgGgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAcaataggaccttAGATCGAGACCCGACGC chr12:40615662-Variant-G;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Reference T aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttca AGGACGAGTACA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAaggacgagtacaAGATCGAGACCCGACGC chr12:40615662-Reference-T;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative C aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttca ACGTAGTTGGAA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAacgtagttggaaAGATCGAGACCCGACGC chr12:40615662-Alternative-C;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative A aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttca AGGTAGTACAGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAaggtagtacagtAGATCGAGACCCGACGC chr12:40615662-Alternative-A;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative C aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttca GACATAGCGACT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgCgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgacatagcgactAGATCGAGACCCGACGC chr12:40615662-Alternative-C;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative A aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttca GCGGTGAGTACA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgcggtgagtacaAGATCGAGACCCGACGC chr12:40615662-Alternative-A;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative A aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttca GTAGTAGCTTGT CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgtagtagcttgtAGATCGAGACCCGACGC chr12:40615662-Alternative-A;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Reference T aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttca GTTGTGTCTATC CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgTgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAgttgtgtctatcAGATCGAGACCCGACGC chr12:40615662-Reference-T;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative A aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttca CTACCATAACGA CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAActaccataacgaAGATCGAGACCCGACGC chr12:40615662-Alternative-A;Patient-7 chr12:40615662-TG DeNovo Patient-7 intergenic NA 0.000513 0.37 8.09 1.64 LRRK2 3213 Alternative A aaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttca CGAGTAGCGAAG CGACGCGGTCTCTCTCTaaggcacttttttctaattcatagaaagactgcctgctgggtaaactatgAgctttcagggctccccgctttcatcctaggggtactttttccttcttcaAGAGGGAGACGGACGTCTCAATAAcgagtagcgaagAGATCGAGACCCGACGC chr12:40615662-Alternative-A;Patient-7 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Variant G ataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GCAACAACTGCG CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgcaacaactgcgAGATCGAGACCCGACGC chr12:43022219-Variant-G;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Variant G ataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GCAGGATCAATC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgcaggatcaatcAGATCGAGACCCGACGC chr12:43022219-Variant-G;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Variant G ataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CAACGCTATAGA CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcaacgctatagaAGATCGAGACCCGACGC chr12:43022219-Variant-G;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative T ataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GTGAACCGACAG CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgtgaaccgacagAGATCGAGACCCGACGC chr12:43022219-Alternative-T;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Variant G ataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CAATGTTCACGA CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcaatgttcacgaAGATCGAGACCCGACGC chr12:43022219-Variant-G;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative T ataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GTCATGTAGGTT CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgtcatgtaggttAGATCGAGACCCGACGC chr12:43022219-Alternative-T;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative C ataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CGGATAATTCCT CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcggataattcctAGATCGAGACCCGACGC chr12:43022219-Alternative-C;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Variant G ataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag ATTGTTACCGTC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataGaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAattgttaccgtcAGATCGAGACCCGACGC chr12:43022219-Variant-G;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative C ataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag ACAGCAAGATCA CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAacagcaagatcaAGATCGAGACCCGACGC chr12:43022219-Alternative-C;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative T ataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CACTTACGAGAT CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcacttacgagatAGATCGAGACCCGACGC chr12:43022219-Alternative-T;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative C ataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GAGACTCGGAAC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgagactcggaacAGATCGAGACCCGACGC chr12:43022219-Alternative-C;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative T ataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CGGAATGGAATC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcggaatggaatcAGATCGAGACCCGACGC chr12:43022219-Alternative-T;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative C ataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag ACGAGTACCGAT CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAacgagtaccgatAGATCGAGACCCGACGC chr12:43022219-Alternative-C;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Reference A ataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GCACGTAGCATC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgcacgtagcatcAGATCGAGACCCGACGC chr12:43022219-Reference-A;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Reference A ataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag ACTCTTGGCATT CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAactcttggcattAGATCGAGACCCGACGC chr12:43022219-Reference-A;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Reference A ataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GTGTATCGTGCG CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgtgtatcgtgcgAGATCGAGACCCGACGC chr12:43022219-Reference-A;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative T ataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag ACGTCAACTGAG CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataTaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAacgtcaactgagAGATCGAGACCCGACGC chr12:43022219-Alternative-T;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Alternative C ataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag GCGGAATAAGAA CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataCaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAgcggaataagaaAGATCGAGACCCGACGC chr12:43022219-Alternative-C;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Reference A ataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CGGCCTTAGTAC CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcggccttagtacAGATCGAGACCCGACGC chr12:43022219-Reference-A;Patient-79 chr12:43022219-AG DeNovo Patient-79 intergenic NA 0.000512821 0.28 7 1.02 PRICKLE1 38646 Reference A ataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaag CGGACTTCATCG CGACGCGGTCTCTCTCTataaggagttaataatttaaactccacaatgttatggtgaggattcaataAaataatgcctgtgaaaatgctatgtgaagtacaaactatgcatgggaagAGAGGGAGACGGACGTCTCAATAAcggacttcatcgAGATCGAGACCCGACGC chr12:43022219-Reference-A;Patient-79 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative G taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGTTGCTAACGG CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcgttgctaacggAGATCGAGACCCGACGC chr12:4308243-Alternative-G;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative A taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt AGGCCAATGTCG CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAaggccaatgtcgAGATCGAGACCCGACGC chr12:4308243-Alternative-A;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Reference T taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GATCACCAACAG CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAgatcaccaacagAGATCGAGACCCGACGC chr12:4308243-Reference-T;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Reference T taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGGCGTTAGCTT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcggcgttagcttAGATCGAGACCCGACGC chr12:4308243-Reference-T;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative A taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GCAGGTTGTCGT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAgcaggttgtcgtAGATCGAGACCCGACGC chr12:4308243-Alternative-A;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative A taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GACCGTATGTGC CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAgaccgtatgtgcAGATCGAGACCCGACGC chr12:4308243-Alternative-A;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative G taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGGTACCGGTAA CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcggtaccggtaaAGATCGAGACCCGACGC chr12:4308243-Alternative-G;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Reference T taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CACTTCGCGAAC CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcacttcgcgaacAGATCGAGACCCGACGC chr12:4308243-Reference-T;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Reference T taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GGTTAATTCCGA CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAggttaattccgaAGATCGAGACCCGACGC chr12:4308243-Reference-T;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative A taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGACGATAGTGT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcgacgatagtgtAGATCGAGACCCGACGC chr12:4308243-Alternative-A;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative G taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt AGTATCGGTTGT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAagtatcggttgtAGATCGAGACCCGACGC chr12:4308243-Alternative-G;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Reference T taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt ATAGCTTCGAGT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaTtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAatagcttcgagtAGATCGAGACCCGACGC chr12:4308243-Reference-T;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative A taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GCGTCTATTGTT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaAtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAgcgtctattgttAGATCGAGACCCGACGC chr12:4308243-Alternative-A;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Variant C taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGGCATAGACCT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcggcatagacctAGATCGAGACCCGACGC chr12:4308243-Variant-C;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative G taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CAATACGTCACT CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcaatacgtcactAGATCGAGACCCGACGC chr12:4308243-Alternative-G;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Alternative G taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GGTTATTGTCGA CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaGtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAggttattgtcgaAGATCGAGACCCGACGC chr12:4308243-Alternative-G;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Variant C taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt AGGTGGATGTGC CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAaggtggatgtgcAGATCGAGACCCGACGC chr12:4308243-Variant-C;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Variant C taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt CGCCAATGTACG CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAcgccaatgtacgAGATCGAGACCCGACGC chr12:4308243-Variant-C;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Variant C taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt AGGACAGCCTTA CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAaggacagccttaAGATCGAGACCCGACGC chr12:4308243-Variant-C;Patient-87 chr12:4308243-TC Inherited Patient-87 intergenic 0.000446 0.000513 0.05 3.37 1.7 CCND2 74658 Variant C taatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggt GCCTGACAATTA CGACGCGGTCTCTCTCTtaatattgttgttgttcaatatatgtttcttatacatcaatatttgctgaCtggctgcctaaatgaattaattaacaacacatacatagtaaaaaccggtAGAGGGAGACGGACGTCTCAATAAgcctgacaattaAGATCGAGACCCGACGC chr12:4308243-Variant-C;Patient-87 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Reference G aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt AGACTAACGAAC CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAagactaacgaacAGATCGAGACCCGACGC chr12:4410082-Reference-G;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Reference G aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt GTTAATGGCTGT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAgttaatggctgtAGATCGAGACCCGACGC chr12:4410082-Reference-G;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative A aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ACGACAACTCTA CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAacgacaactctaAGATCGAGACCCGACGC chr12:4410082-Alternative-A;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative T aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt CAACAACAACCT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAcaacaacaacctAGATCGAGACCCGACGC chr12:4410082-Alternative-T;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative T aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt GCGTTAATGGAT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAgcgttaatggatAGATCGAGACCCGACGC chr12:4410082-Alternative-T;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative A aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt AGCATTCATGGT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAagcattcatggtAGATCGAGACCCGACGC chr12:4410082-Alternative-A;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative T aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt AGATCGACCTAT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAagatcgacctatAGATCGAGACCCGACGC chr12:4410082-Alternative-T;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative T aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ATATTAGTCGGC CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAatattagtcggcAGATCGAGACCCGACGC chr12:4410082-Alternative-T;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Reference G aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt AGCTGCGAGATA CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAagctgcgagataAGATCGAGACCCGACGC chr12:4410082-Reference-G;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative A aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt GTTACCTCGATT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAgttacctcgattAGATCGAGACCCGACGC chr12:4410082-Alternative-A;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative T aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ACGGCTGCTTCT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttTgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAacggctgcttctAGATCGAGACCCGACGC chr12:4410082-Alternative-T;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Reference G aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt CAATAGGCTGTT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAcaataggctgttAGATCGAGACCCGACGC chr12:4410082-Reference-G;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative A aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt GCAAGTCAGCCA CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAgcaagtcagccaAGATCGAGACCCGACGC chr12:4410082-Alternative-A;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Reference G aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ATACTTAGGTCG CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttGgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAatacttaggtcgAGATCGAGACCCGACGC chr12:4410082-Reference-G;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Variant C aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt AACGCGCGTCAA CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAaacgcgcgtcaaAGATCGAGACCCGACGC chr12:4410082-Variant-C;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Variant C aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ATCGATGACGAT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAatcgatgacgatAGATCGAGACCCGACGC chr12:4410082-Variant-C;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Variant C aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt GCGCTGTATGGT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAgcgctgtatggtAGATCGAGACCCGACGC chr12:4410082-Variant-C;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Variant C aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt CGACGACGTAGA CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAcgacgacgtagaAGATCGAGACCCGACGC chr12:4410082-Variant-C;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Alternative A aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt CGTTATTCGGAT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttAgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAcgttattcggatAGATCGAGACCCGACGC chr12:4410082-Alternative-A;Patient-9 chr12:4410082-GC DeNovo Patient-9 3 prime UTR CCND2 NA 0.00016 1.42 15.47 3.9 TIGAR 20276 Variant C aaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccatt ACACCATTAGCT CGACGCGGTCTCTCTCTaaaagggtaatgtggccttggcatttcttcttagaaaaaaactaatttttCgtgctgattggcatgtctggttcacagtttagcattgttataaaccattAGAGGGAGACGGACGTCTCAATAAacaccattagctAGATCGAGACCCGACGC chr12:4410082-Variant-C;Patient-9 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative A tcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttctt GCCGTAGCAAGT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAgccgtagcaagtAGATCGAGACCCGACGC chr12:4502792-Alternative-A;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Reference T tcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttctt CGCTGAATAGTT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAcgctgaatagttAGATCGAGACCCGACGC chr12:4502792-Reference-T;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Reference T tcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttctt AGTGTACTCGAT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAagtgtactcgatAGATCGAGACCCGACGC chr12:4502792-Reference-T;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative C tcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttctt ATTCTTGGACAG CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAattcttggacagAGATCGAGACCCGACGC chr12:4502792-Alternative-C;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Variant G tcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttctt ATACGATAGCGA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAatacgatagcgaAGATCGAGACCCGACGC chr12:4502792-Variant-G;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative C tcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttctt GCGTGTGCTTCT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAgcgtgtgcttctAGATCGAGACCCGACGC chr12:4502792-Alternative-C;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative A tcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttctt ATTGTCAGACGT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAattgtcagacgtAGATCGAGACCCGACGC chr12:4502792-Alternative-A;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative A tcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttctt CTCATGTTACGT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAActcatgttacgtAGATCGAGACCCGACGC chr12:4502792-Alternative-A;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Reference T tcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttctt ATTACGTCACGA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAattacgtcacgaAGATCGAGACCCGACGC chr12:4502792-Reference-T;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Reference T tcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttctt AGCTCTCGAATA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAagctctcgaataAGATCGAGACCCGACGC chr12:4502792-Reference-T;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative C tcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttctt GAATGTGCTCGA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAgaatgtgctcgaAGATCGAGACCCGACGC chr12:4502792-Alternative-C;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative C tcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttctt ACATCTTAGCCA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAacatcttagccaAGATCGAGACCCGACGC chr12:4502792-Alternative-C;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative A tcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttctt CGAGCAGGTAAG CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAcgagcaggtaagAGATCGAGACCCGACGC chr12:4502792-Alternative-A;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Variant G tcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttctt GCGTATATTCAC CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAgcgtatattcacAGATCGAGACCCGACGC chr12:4502792-Variant-G;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative C tcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttctt AAGATATGCCGA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttCttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAaagatatgccgaAGATCGAGACCCGACGC chr12:4502792-Alternative-C;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Variant G tcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttctt GACGTAATGCTT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAgacgtaatgcttAGATCGAGACCCGACGC chr12:4502792-Variant-G;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Variant G tcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttctt ACGTCACTTCTA CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAacgtcacttctaAGATCGAGACCCGACGC chr12:4502792-Variant-G;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Reference T tcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttctt AAGATTCCGACT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttTttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAaagattccgactAGATCGAGACCCGACGC chr12:4502792-Reference-T;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Variant G tcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttctt GGTGAACAGTCG CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttGttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAggtgaacagtcgAGATCGAGACCCGACGC chr12:4502792-Variant-G;Patient-72 chr12:4502792-TG DeNovo Patient-72 intergenic 0.000321 0.00103 -0.03 2.15 0.85 FGF23 13897 Alternative A tcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttctt AGTCGTAACGTT CGACGCGGTCTCTCTCTtcagctatttcacatttcagattcccgactccagaaagatggatctgtttAttctttctttctttctttctttctttctttctttctttctttctttcttAGAGGGAGACGGACGTCTCAATAAagtcgtaacgttAGATCGAGACCCGACGC chr12:4502792-Alternative-A;Patient-72 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Reference G gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat AGATCGTGCCGA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAagatcgtgccgaAGATCGAGACCCGACGC chr12:4504701-Reference-G;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative T gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat AACGTGACTCTA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAaacgtgactctaAGATCGAGACCCGACGC chr12:4504701-Alternative-T;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Reference G gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat AGGTTAGCGACG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAaggttagcgacgAGATCGAGACCCGACGC chr12:4504701-Reference-G;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative T gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat ATTCGGTTATGG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAattcggttatggAGATCGAGACCCGACGC chr12:4504701-Alternative-T;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative T gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CACAGCTCTGAG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAcacagctctgagAGATCGAGACCCGACGC chr12:4504701-Alternative-T;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative T gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CTAACAAGACCT CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAActaacaagacctAGATCGAGACCCGACGC chr12:4504701-Alternative-T;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative T gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CGCTTAGATTCA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagTcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAcgcttagattcaAGATCGAGACCCGACGC chr12:4504701-Alternative-T;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Variant A gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat GCGTTGATGCAG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAgcgttgatgcagAGATCGAGACCCGACGC chr12:4504701-Variant-A;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Variant A gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CTGGTCTATCAA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAActggtctatcaaAGATCGAGACCCGACGC chr12:4504701-Variant-A;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Variant A gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CTTGCACGCCTT CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAActtgcacgccttAGATCGAGACCCGACGC chr12:4504701-Variant-A;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Variant A gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CTTATGGATCGA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAActtatggatcgaAGATCGAGACCCGACGC chr12:4504701-Variant-A;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative C gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat AGGCACGTATGC CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAaggcacgtatgcAGATCGAGACCCGACGC chr12:4504701-Alternative-C;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Variant A gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CTCATAACGTCC CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagAcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAActcataacgtccAGATCGAGACCCGACGC chr12:4504701-Variant-A;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative C gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat ACAACTAGCGAT CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAacaactagcgatAGATCGAGACCCGACGC chr12:4504701-Alternative-C;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative C gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat GACTGATGATAC CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAgactgatgatacAGATCGAGACCCGACGC chr12:4504701-Alternative-C;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative C gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CGGAGCATACGT CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAcggagcatacgtAGATCGAGACCCGACGC chr12:4504701-Alternative-C;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Alternative C gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CGTATAATTGCG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagCcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAcgtataattgcgAGATCGAGACCCGACGC chr12:4504701-Alternative-C;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Reference G gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat CAGACTCGTGGT CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAcagactcgtggtAGATCGAGACCCGACGC chr12:4504701-Reference-G;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Reference G gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat GTTACGCCATTA CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAgttacgccattaAGATCGAGACCCGACGC chr12:4504701-Reference-G;Patient-49 chr12:4504701-GA DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.1 1.39 -1.12 FGF23 15806 Reference G gccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagat AGTAACATTGCG CGACGCGGTCTCTCTCTgccgggcgtggtggcacatgcctgtagtcccagctacttgggaggctgagGcaggagaatggcgtgaacctgggaggtggagcttgcattgagccgagatAGAGGGAGACGGACGTCTCAATAAagtaacattgcgAGATCGAGACCCGACGC chr12:4504701-Reference-G;Patient-49 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative T gatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaaga CTTGAACGACGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAActtgaacgacgtAGATCGAGACCCGACGC chr12:46160934-Alternative-T;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative T gatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaaga GGCCGAGTGTAA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAggccgagtgtaaAGATCGAGACCCGACGC chr12:46160934-Alternative-T;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Variant A gatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaaga ATCCGCGTTCGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAatccgcgttcgtAGATCGAGACCCGACGC chr12:46160934-Variant-A;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative T gatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaaga ATACGCATCGCA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAatacgcatcgcaAGATCGAGACCCGACGC chr12:46160934-Alternative-T;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative C gatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaaga AGTAGCCATCAA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAagtagccatcaaAGATCGAGACCCGACGC chr12:46160934-Alternative-C;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative T gatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaaga GATACGAGTAGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAgatacgagtagtAGATCGAGACCCGACGC chr12:46160934-Alternative-T;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative C gatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaaga ACGAGACATAAC CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAacgagacataacAGATCGAGACCCGACGC chr12:46160934-Alternative-C;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative C gatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaaga CGCAGTATATGG CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAcgcagtatatggAGATCGAGACCCGACGC chr12:46160934-Alternative-C;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Variant A gatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaaga AAGGACCTTAAG CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAaaggaccttaagAGATCGAGACCCGACGC chr12:46160934-Variant-A;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Variant A gatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaaga CATGTTGCGTGG CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAcatgttgcgtggAGATCGAGACCCGACGC chr12:46160934-Variant-A;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative C gatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaaga AAGGTACGCGAC CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAaaggtacgcgacAGATCGAGACCCGACGC chr12:46160934-Alternative-C;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative C gatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaaga AACGTACACGGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattCagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAaacgtacacggtAGATCGAGACCCGACGC chr12:46160934-Alternative-C;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Variant A gatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaaga CAACGGCGTCTA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAcaacggcgtctaAGATCGAGACCCGACGC chr12:46160934-Variant-A;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Variant A gatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaaga CTTATAGGCGAA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattAagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAActtataggcgaaAGATCGAGACCCGACGC chr12:46160934-Variant-A;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Alternative T gatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaaga AGAACCTCATCA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattTagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAagaacctcatcaAGATCGAGACCCGACGC chr12:46160934-Alternative-T;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Reference G gatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaaga GACAAGCCGTGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAgacaagccgtgtAGATCGAGACCCGACGC chr12:46160934-Reference-G;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Reference G gatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaaga AGTGTAATCGGT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAagtgtaatcggtAGATCGAGACCCGACGC chr12:46160934-Reference-G;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Reference G gatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaaga AACTACGACCAC CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAaactacgaccacAGATCGAGACCCGACGC chr12:46160934-Reference-G;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Reference G gatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaaga ACCGACGTTCCT CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAaccgacgttcctAGATCGAGACCCGACGC chr12:46160934-Reference-G;Patient-51 chr12:46160934-GA DeNovo Patient-51 intronic ARID2 NA 4.95e-05 -0.19 0.76 -0.94 ARID2 37313 Reference G gatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaaga GTAACGAGTCAA CGACGCGGTCTCTCTCTgatatcttactgtggctagaatttgcttttccttaatgactaatcatattGagtactgttatattcttatttgcattttttatatattctttggtgaagaAGAGGGAGACGGACGTCTCAATAAgtaacgagtcaaAGATCGAGACCCGACGC chr12:46160934-Reference-G;Patient-51 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Reference G ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt AACGCTTGCTAT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAaacgcttgctatAGATCGAGACCCGACGC chr12:46716920-Reference-G;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Reference G ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt ACGATACTCGCG CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAacgatactcgcgAGATCGAGACCCGACGC chr12:46716920-Reference-G;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative T ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt ACTTCCTCGGCA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAacttcctcggcaAGATCGAGACCCGACGC chr12:46716920-Alternative-T;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Reference G ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GCGGCCATTGTT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAgcggccattgttAGATCGAGACCCGACGC chr12:46716920-Reference-G;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative T ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt CATTCAAGACCG CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAcattcaagaccgAGATCGAGACCCGACGC chr12:46716920-Alternative-T;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Reference G ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt CTCGTATTCGGC CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAActcgtattcggcAGATCGAGACCCGACGC chr12:46716920-Reference-G;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Reference G ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt AAGGACACTCGG CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaGgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAaaggacactcggAGATCGAGACCCGACGC chr12:46716920-Reference-G;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative T ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt ACTTATGAGCCA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAacttatgagccaAGATCGAGACCCGACGC chr12:46716920-Alternative-T;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative T ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt AATACCGTGCGC CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAaataccgtgcgcAGATCGAGACCCGACGC chr12:46716920-Alternative-T;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Variant C ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GCGTATAACGAA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAgcgtataacgaaAGATCGAGACCCGACGC chr12:46716920-Variant-C;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative A ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GATAATGCGGAA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAgataatgcggaaAGATCGAGACCCGACGC chr12:46716920-Alternative-A;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Variant C ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt AGTAGTGTTCGT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAagtagtgttcgtAGATCGAGACCCGACGC chr12:46716920-Variant-C;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative T ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GGCTATCATTCA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaTgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAggctatcattcaAGATCGAGACCCGACGC chr12:46716920-Alternative-T;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative A ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GTAGTCATTCCT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAgtagtcattcctAGATCGAGACCCGACGC chr12:46716920-Alternative-A;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Variant C ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt CGCAATCGACAC CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAcgcaatcgacacAGATCGAGACCCGACGC chr12:46716920-Variant-C;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Variant C ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GGATATCTAAGG CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAggatatctaaggAGATCGAGACCCGACGC chr12:46716920-Variant-C;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative A ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GGCTATCTGACA CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAggctatctgacaAGATCGAGACCCGACGC chr12:46716920-Alternative-A;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative A ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GACGCTGTACGT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAgacgctgtacgtAGATCGAGACCCGACGC chr12:46716920-Alternative-A;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Variant C ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt CTGAAGCGTGCT CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaCgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAActgaagcgtgctAGATCGAGACCCGACGC chr12:46716920-Variant-C;Patient-104 chr12:46716920-GC DeNovo Patient-104 intergenic 0.000319 0.001421801 -0.15 1.03 0 SLC38A2 49724 Alternative A ctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggtttttt GGTAGGTGATCG CGACGCGGTCTCTCTCTctgagaaatacataaaggagcagccacaggaatagtagtttttggtgtgaAgggtccaaatatggggggagtagagttgatataagaagaaaggttttttAGAGGGAGACGGACGTCTCAATAAggtaggtgatcgAGATCGAGACCCGACGC chr12:46716920-Alternative-A;Patient-104 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Reference C agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa CGATACTCTTCG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAcgatactcttcgAGATCGAGACCCGACGC chr12:48306178-Reference-C;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Reference C agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GACCAATTCTGA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgaccaattctgaAGATCGAGACCCGACGC chr12:48306178-Reference-C;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Reference C agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GGACTTCAGTCG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAggacttcagtcgAGATCGAGACCCGACGC chr12:48306178-Reference-C;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Reference C agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa ATCATCCGAACT CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAatcatccgaactAGATCGAGACCCGACGC chr12:48306178-Reference-C;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Reference C agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GTTGTGGATGAA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgCctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgttgtggatgaaAGATCGAGACCCGACGC chr12:48306178-Reference-C;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative A agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa CGTACGTACGAC CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAcgtacgtacgacAGATCGAGACCCGACGC chr12:48306178-Alternative-A;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative A agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa CTTGACGCTACC CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAActtgacgctaccAGATCGAGACCCGACGC chr12:48306178-Alternative-A;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative A agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GCGAGAGATAGG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgcgagagataggAGATCGAGACCCGACGC chr12:48306178-Alternative-A;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative A agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa ATACCACTCGTT CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAataccactcgttAGATCGAGACCCGACGC chr12:48306178-Alternative-A;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative A agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GCGTAAGGTACG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgActccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgcgtaaggtacgAGATCGAGACCCGACGC chr12:48306178-Alternative-A;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Variant T agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa CGTCAGTATACT CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAcgtcagtatactAGATCGAGACCCGACGC chr12:48306178-Variant-T;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Variant T agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GAGTCCATTCAA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgagtccattcaaAGATCGAGACCCGACGC chr12:48306178-Variant-T;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Variant T agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa AGCAAGTGAGCG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAagcaagtgagcgAGATCGAGACCCGACGC chr12:48306178-Variant-T;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Variant T agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa ACTGTTCGCGCA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAactgttcgcgcaAGATCGAGACCCGACGC chr12:48306178-Variant-T;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Variant T agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GTCGTTGTTATC CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgTctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgtcgttgttatcAGATCGAGACCCGACGC chr12:48306178-Variant-T;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative G agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GACAGTCGCCTA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgacagtcgcctaAGATCGAGACCCGACGC chr12:48306178-Alternative-G;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative G agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa AAGCGGTTGCAC CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAaagcggttgcacAGATCGAGACCCGACGC chr12:48306178-Alternative-G;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative G agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa CGATCATAATCG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAcgatcataatcgAGATCGAGACCCGACGC chr12:48306178-Alternative-G;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative G agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa GTTGGTAGTAAG CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAgttggtagtaagAGATCGAGACCCGACGC chr12:48306178-Alternative-G;Patient-30 chr12:48306178-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA VDR 7363 Alternative G agaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaa ACGTTACGACCA CGACGCGGTCTCTCTCTagaccctggggtcttatgagatattggcatcatgaagcctttaccgattgGctccaacaggccacttcctcttcatgataagtaggaaaagggaggcaaaAGAGGGAGACGGACGTCTCAATAAacgttacgaccaAGATCGAGACCCGACGC chr12:48306178-Alternative-G;Patient-30 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Reference G tcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt CTCTCGAACCTT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAActctcgaaccttAGATCGAGACCCGACGC chr12:48386048-Reference-G;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Reference G tcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt CGTCGTCCTGAT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAcgtcgtcctgatAGATCGAGACCCGACGC chr12:48386048-Reference-G;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Reference G tcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt GGATCTTCTATC CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAggatcttctatcAGATCGAGACCCGACGC chr12:48386048-Reference-G;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Reference G tcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt GCCGCTGTAACA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAgccgctgtaacaAGATCGAGACCCGACGC chr12:48386048-Reference-G;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Variant T tcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACACGTCGTCAA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacacgtcgtcaaAGATCGAGACCCGACGC chr12:48386048-Variant-T;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Variant T tcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt GCATGACACGTT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAgcatgacacgttAGATCGAGACCCGACGC chr12:48386048-Variant-T;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Variant T tcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt CTAGTCATCAAG CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAActagtcatcaagAGATCGAGACCCGACGC chr12:48386048-Variant-T;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Reference G tcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt AAGTTACCTCGA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagGctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAaagttacctcgaAGATCGAGACCCGACGC chr12:48386048-Reference-G;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Variant T tcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACGAAGGTCGAT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacgaaggtcgatAGATCGAGACCCGACGC chr12:48386048-Variant-T;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Variant T tcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACGTTGAGCTAA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagTctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacgttgagctaaAGATCGAGACCCGACGC chr12:48386048-Variant-T;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative A tcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt AGCATGGTTCGA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAagcatggttcgaAGATCGAGACCCGACGC chr12:48386048-Alternative-A;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative A tcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACGTTGCCATAA CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacgttgccataaAGATCGAGACCCGACGC chr12:48386048-Alternative-A;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative A tcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt CTCTGACTTCGG CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAActctgacttcggAGATCGAGACCCGACGC chr12:48386048-Alternative-A;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative A tcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt AGAATGTCATGG CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAagaatgtcatggAGATCGAGACCCGACGC chr12:48386048-Alternative-A;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative A tcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt GGTACGAACGAT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagActgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAggtacgaacgatAGATCGAGACCCGACGC chr12:48386048-Alternative-A;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative C tcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACATGCGCGACT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacatgcgcgactAGATCGAGACCCGACGC chr12:48386048-Alternative-C;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative C tcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ATACCGGCAACT CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAataccggcaactAGATCGAGACCCGACGC chr12:48386048-Alternative-C;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative C tcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACTTAACGGACG CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAacttaacggacgAGATCGAGACCCGACGC chr12:48386048-Alternative-C;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative C tcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt CACTAGTTAAGG CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAcactagttaaggAGATCGAGACCCGACGC chr12:48386048-Alternative-C;Patient-36 chr12:48386048-GT DeNovo Patient-36 intronic COL2A1 NA 4.95e-05 0.11 4.4 0.61 COL2A1 12236 Alternative C tcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggt ACTGCGTACGTC CGACGCGGTCTCTCTCTtcccctcacccttaatttcccacattaactagaggccaccagagtctaagCctgcaaggcactatttatcttaagctatttcacctttctgtgtctcggtAGAGGGAGACGGACGTCTCAATAAactgcgtacgtcAGATCGAGACCCGACGC chr12:48386048-Alternative-C;Patient-36 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative C gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GACGACGATGCA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgacgacgatgcaAGATCGAGACCCGACGC chr12:49093885-Alternative-C;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative C gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GTTAATAGGTGG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgttaataggtggAGATCGAGACCCGACGC chr12:49093885-Alternative-C;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Reference A gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc AGTTGGTCCTGG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAagttggtcctggAGATCGAGACCCGACGC chr12:49093885-Reference-A;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Reference A gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc ACTTCCTGTCAA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAacttcctgtcaaAGATCGAGACCCGACGC chr12:49093885-Reference-A;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Reference A gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc ATAGTATGCCGA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAatagtatgccgaAGATCGAGACCCGACGC chr12:49093885-Reference-A;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative C gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GCAAGCGAACAG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgcaagcgaacagAGATCGAGACCCGACGC chr12:49093885-Alternative-C;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative C gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc AGAGCACTGAGA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAagagcactgagaAGATCGAGACCCGACGC chr12:49093885-Alternative-C;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative C gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GACCATAACGGT CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacCaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgaccataacggtAGATCGAGACCCGACGC chr12:49093885-Alternative-C;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Reference A gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CAATGGTCAAGA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAcaatggtcaagaAGATCGAGACCCGACGC chr12:49093885-Reference-A;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative T gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CGGTAGTCGTTC CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAcggtagtcgttcAGATCGAGACCCGACGC chr12:49093885-Alternative-T;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Variant G gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CGTGTGATATGA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAcgtgtgatatgaAGATCGAGACCCGACGC chr12:49093885-Variant-G;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Reference A gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GATCACGATGCA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacAaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgatcacgatgcaAGATCGAGACCCGACGC chr12:49093885-Reference-A;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative T gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CAGCAAGATAAC CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAcagcaagataacAGATCGAGACCCGACGC chr12:49093885-Alternative-T;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative T gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CTGCGTGGAATC CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAActgcgtggaatcAGATCGAGACCCGACGC chr12:49093885-Alternative-T;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative T gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CTAATTGGCGCG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAActaattggcgcgAGATCGAGACCCGACGC chr12:49093885-Alternative-T;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Alternative T gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc GTTCCAGCAACG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacTaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAgttccagcaacgAGATCGAGACCCGACGC chr12:49093885-Alternative-T;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Variant G gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc AACACCTCATGA CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAaacacctcatgaAGATCGAGACCCGACGC chr12:49093885-Variant-G;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Variant G gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc ACGAACCTTGAC CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAacgaaccttgacAGATCGAGACCCGACGC chr12:49093885-Variant-G;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Variant G gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc CAGGTACCTGAC CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAcaggtacctgacAGATCGAGACCCGACGC chr12:49093885-Variant-G;Patient-61 chr12:49093885-AG DeNovo Patient-61 intronic CCNT1 3.2e-05 0.000197961 -0.24 0.55 -1.69 CCNT1 16895 Variant G gatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctc ACGAGTCTAGCG CGACGCGGTCTCTCTCTgatcaagcctgtaatcccagcactttgggaggccgaggcgagcggatcacGaggtcaggagatcaagaccatcctggctaacacggtgaaaccctatctcAGAGGGAGACGGACGTCTCAATAAacgagtctagcgAGATCGAGACCCGACGC chr12:49093885-Variant-G;Patient-61 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative C caagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CGGATATGCGGT CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcggatatgcggtAGATCGAGACCCGACGC chr12:49429181-Alternative-C;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative C caagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc AATCGTTCGCGG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAaatcgttcgcggAGATCGAGACCCGACGC chr12:49429181-Alternative-C;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative C caagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc ATTCGCGACGGT CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAattcgcgacggtAGATCGAGACCCGACGC chr12:49429181-Alternative-C;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative C caagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CGCGTTGAGCAA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcgcgttgagcaaAGATCGAGACCCGACGC chr12:49429181-Alternative-C;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative C caagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GATTCTGTCCTA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgCtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAgattctgtcctaAGATCGAGACCCGACGC chr12:49429181-Alternative-C;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Variant A caagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc ACACATACGGAA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAacacatacggaaAGATCGAGACCCGACGC chr12:49429181-Variant-A;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative G caagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GAATATAGCCGA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAgaatatagccgaAGATCGAGACCCGACGC chr12:49429181-Alternative-G;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Variant A caagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc AGTGTTCGATCA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAagtgttcgatcaAGATCGAGACCCGACGC chr12:49429181-Variant-A;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Variant A caagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CGCTATATGTTC CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcgctatatgttcAGATCGAGACCCGACGC chr12:49429181-Variant-A;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative G caagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GCCGGATTGACT CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAgccggattgactAGATCGAGACCCGACGC chr12:49429181-Alternative-G;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Variant A caagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc ACCGAGTTCTGG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAaccgagttctggAGATCGAGACCCGACGC chr12:49429181-Variant-A;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative G caagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GGTCGATTATGT CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAggtcgattatgtAGATCGAGACCCGACGC chr12:49429181-Alternative-G;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Reference T caagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GATGAGTCCGCT CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAgatgagtccgctAGATCGAGACCCGACGC chr12:49429181-Reference-T;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative G caagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CGTGCCGTGTAA CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcgtgccgtgtaaAGATCGAGACCCGACGC chr12:49429181-Alternative-G;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Alternative G caagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc AGCATATTCTGG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgGtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAagcatattctggAGATCGAGACCCGACGC chr12:49429181-Alternative-G;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Reference T caagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc ATAGAGGTTACG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAatagaggttacgAGATCGAGACCCGACGC chr12:49429181-Reference-T;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Reference T caagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc ATCCGCCTAACG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAatccgcctaacgAGATCGAGACCCGACGC chr12:49429181-Reference-T;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Reference T caagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CACGACTACTTC CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcacgactacttcAGATCGAGACCCGACGC chr12:49429181-Reference-T;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Variant A caagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc GCCGGATATGAG CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgAtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAgccggatatgagAGATCGAGACCCGACGC chr12:49429181-Variant-A;Patient-91 chr12:49429181-TA Inherited Patient-91 intronic KMT2D 0.000159 0.000247 0.88 12.46 -0.96 PRKAG1 16551 Reference T caagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggc CATCGGAATAAC CGACGCGGTCTCTCTCTcaagcacccaagatgctggcactgttgcaaagccctagattccagagctgTtttgggcatcacctgtagtccactctcctgtctgtctagaatgctgggcAGAGGGAGACGGACGTCTCAATAAcatcggaataacAGATCGAGACCCGACGC chr12:49429181-Reference-T;Patient-91 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Reference G accactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac AAGGTAACACAG CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAaaggtaacacagAGATCGAGACCCGACGC chr12:49537870-Reference-G;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Reference G accactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CTATGTACGAAC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAActatgtacgaacAGATCGAGACCCGACGC chr12:49537870-Reference-G;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative T accactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac GTGTTCTTGGAA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAgtgttcttggaaAGATCGAGACCCGACGC chr12:49537870-Alternative-T;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative A accactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac ATCTCGTTGGAA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAatctcgttggaaAGATCGAGACCCGACGC chr12:49537870-Alternative-A;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Reference G accactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CTAGCCATAGCA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAActagccatagcaAGATCGAGACCCGACGC chr12:49537870-Reference-G;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Reference G accactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac GGTTGACAGGAC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAggttgacaggacAGATCGAGACCCGACGC chr12:49537870-Reference-G;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative T accactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac AGTCGAGCCATC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAagtcgagccatcAGATCGAGACCCGACGC chr12:49537870-Alternative-T;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative T accactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac AGTGCTCGAGCT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAagtgctcgagctAGATCGAGACCCGACGC chr12:49537870-Alternative-T;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Variant C accactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CAACCAGTAAGA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAcaaccagtaagaAGATCGAGACCCGACGC chr12:49537870-Variant-C;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Variant C accactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac AGCGTGTATCCT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAagcgtgtatcctAGATCGAGACCCGACGC chr12:49537870-Variant-C;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative T accactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac GTCGGAGTAATA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAgtcggagtaataAGATCGAGACCCGACGC chr12:49537870-Alternative-T;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Reference G accactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CAGAGAATCGTT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaGtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAcagagaatcgttAGATCGAGACCCGACGC chr12:49537870-Reference-G;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Variant C accactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CAACACGACGTC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAcaacacgacgtcAGATCGAGACCCGACGC chr12:49537870-Variant-C;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative A accactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac ACAGCGCTATAT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAacagcgctatatAGATCGAGACCCGACGC chr12:49537870-Alternative-A;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Variant C accactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac GTTGAGAGTAAC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAgttgagagtaacAGATCGAGACCCGACGC chr12:49537870-Variant-C;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative A accactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac AAGCGGTTCATT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAaagcggttcattAGATCGAGACCCGACGC chr12:49537870-Alternative-A;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative A accactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CTTGGTGGACAT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAActtggtggacatAGATCGAGACCCGACGC chr12:49537870-Alternative-A;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative T accactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac CTTGTTACGTTC CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaTtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAActtgttacgttcAGATCGAGACCCGACGC chr12:49537870-Alternative-T;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Alternative A accactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac ATATGTCGGCAT CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaAtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAatatgtcggcatAGATCGAGACCCGACGC chr12:49537870-Alternative-A;Patient-87 chr12:49537870-GC Inherited Patient-87 intergenic 0.000251 0.000512821 -0.19 0.77 0 TUBA1B 12565 Variant C accactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcac GACGGCGTAAGA CGACGCGGTCTCTCTCTaccactatgctcagcctcctttacttttttttttttttttttgagacagaCtctcgctctgtcgcccaggctggagtgcagtggcacaatctcggctcacAGAGGGAGACGGACGTCTCAATAAgacggcgtaagaAGATCGAGACCCGACGC chr12:49537870-Variant-C;Patient-87 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Reference G tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GCGTGTTGCTGA CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgcgtgttgctgaAGATCGAGACCCGACGC chr12:49593397-Reference-G;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Reference G tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag CGTCGTGCTCAT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAcgtcgtgctcatAGATCGAGACCCGACGC chr12:49593397-Reference-G;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative T tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GCACGTTGTCCT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgcacgttgtcctAGATCGAGACCCGACGC chr12:49593397-Alternative-T;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative T tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag ACTGCGAAGTCG CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAactgcgaagtcgAGATCGAGACCCGACGC chr12:49593397-Alternative-T;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Variant A tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag AATGGAAGTGCT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAaatggaagtgctAGATCGAGACCCGACGC chr12:49593397-Variant-A;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Variant A tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GATTCGACTAAC CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgattcgactaacAGATCGAGACCCGACGC chr12:49593397-Variant-A;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative T tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag AACGTATGGTGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAaacgtatggtgtAGATCGAGACCCGACGC chr12:49593397-Alternative-T;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative T tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag ACTCGCTAACTT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAactcgctaacttAGATCGAGACCCGACGC chr12:49593397-Alternative-T;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative T tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GCGTATAGGCGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaTcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgcgtataggcgtAGATCGAGACCCGACGC chr12:49593397-Alternative-T;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative C tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag ACTTCTAACCGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAacttctaaccgtAGATCGAGACCCGACGC chr12:49593397-Alternative-C;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Variant A tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag AGCTTGTAGGTT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAagcttgtaggttAGATCGAGACCCGACGC chr12:49593397-Variant-A;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative C tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GTAAGCGTATGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgtaagcgtatgtAGATCGAGACCCGACGC chr12:49593397-Alternative-C;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Variant A tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag ACTCGGTGACGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAactcggtgacgtAGATCGAGACCCGACGC chr12:49593397-Variant-A;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Variant A tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag AGCGCTACACCT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaAcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAagcgctacacctAGATCGAGACCCGACGC chr12:49593397-Variant-A;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative C tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag CGGTGATGATGC CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAcggtgatgatgcAGATCGAGACCCGACGC chr12:49593397-Alternative-C;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative C tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag CGACGCATCAGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAcgacgcatcagtAGATCGAGACCCGACGC chr12:49593397-Alternative-C;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Alternative C tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GGCAAGATATGT CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaCcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAggcaagatatgtAGATCGAGACCCGACGC chr12:49593397-Alternative-C;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Reference G tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GCGGTTCGTAAG CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgcggttcgtaagAGATCGAGACCCGACGC chr12:49593397-Reference-G;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Reference G tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag AATGATCAAGCG CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAaatgatcaagcgAGATCGAGACCCGACGC chr12:49593397-Reference-G;Patient-62 chr12:49593397-GA DeNovo Patient-62 intergenic 0.000779 0.000513 0.05 3.43 0.39 TUBA1A 10289 Reference G tttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattag GAATGACGAATC CGACGCGGTCTCTCTCTtttgggaggccgaggtgggttgatcacttgaggtcaggtattcaagaccaGcctggccaacatggtgaaacctcatttctacaaaaaatacaaaaattagAGAGGGAGACGGACGTCTCAATAAgaatgacgaatcAGATCGAGACCCGACGC chr12:49593397-Reference-G;Patient-62 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative G ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGGCTTCGTCCT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAaggcttcgtcctAGATCGAGACCCGACGC chr12:50297804-Alternative-G;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative G ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGCAACCTAGCT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAagcaacctagctAGATCGAGACCCGACGC chr12:50297804-Alternative-G;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative G ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGTCATCGACTA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAagtcatcgactaAGATCGAGACCCGACGC chr12:50297804-Alternative-G;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative G ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta CGCAATGTAAGT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAcgcaatgtaagtAGATCGAGACCCGACGC chr12:50297804-Alternative-G;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative G ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AAGCAACACGAT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacGgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAaagcaacacgatAGATCGAGACCCGACGC chr12:50297804-Alternative-G;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative T ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta GTAATGATAGCG CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAgtaatgatagcgAGATCGAGACCCGACGC chr12:50297804-Alternative-T;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative T ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta ATCTCCGGATAA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAatctccggataaAGATCGAGACCCGACGC chr12:50297804-Alternative-T;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Variant A ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta ATCTGCGAATCA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAatctgcgaatcaAGATCGAGACCCGACGC chr12:50297804-Variant-A;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Variant A ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGGTTCGATTGT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAaggttcgattgtAGATCGAGACCCGACGC chr12:50297804-Variant-A;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative T ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta ACCTAAGGCGAA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAacctaaggcgaaAGATCGAGACCCGACGC chr12:50297804-Alternative-T;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Variant A ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGCGTCACTAGA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAagcgtcactagaAGATCGAGACCCGACGC chr12:50297804-Variant-A;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Variant A ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta CGCCACGATTAA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAcgccacgattaaAGATCGAGACCCGACGC chr12:50297804-Variant-A;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative T ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta CGTGCTCCTTCT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAcgtgctccttctAGATCGAGACCCGACGC chr12:50297804-Alternative-T;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Reference C ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGTCGCGGAACT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAagtcgcggaactAGATCGAGACCCGACGC chr12:50297804-Reference-C;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Alternative T ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta CAGATAGGTACA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacTgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAcagataggtacaAGATCGAGACCCGACGC chr12:50297804-Alternative-T;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Variant A ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta CATTGTAACACG CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacAgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAcattgtaacacgAGATCGAGACCCGACGC chr12:50297804-Variant-A;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Reference C ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGTCAGTACGAA CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAagtcagtacgaaAGATCGAGACCCGACGC chr12:50297804-Reference-C;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Reference C ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta AGGACCGTTATT CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAaggaccgttattAGATCGAGACCCGACGC chr12:50297804-Reference-C;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Reference C ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta ATAAGTCGGCGG CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAataagtcggcggAGATCGAGACCCGACGC chr12:50297804-Reference-C;Patient-26 chr12:50297804-CA DeNovo Patient-26 intergenic NA 9.9e-05 0.38 8.19 0.73 FAIM2 43 Reference C ctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgccctta GTAGTAGCTATC CGACGCGGTCTCTCTCTctgcggaggacgctgcggattcgcgagcccggggtaaggcggcggcgcacCgccccctcccgccgcttcccccccaccccgccccccaccgccgcccttaAGAGGGAGACGGACGTCTCAATAAgtagtagctatcAGATCGAGACCCGACGC chr12:50297804-Reference-C;Patient-26 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Reference G cttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GTGATATGATGG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgtgatatgatggAGATCGAGACCCGACGC chr12:50545262-Reference-G;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Variant A cttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt CACGCTGAACAG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAcacgctgaacagAGATCGAGACCCGACGC chr12:50545262-Variant-A;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative T cttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GCGATATGGTAC CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgcgatatggtacAGATCGAGACCCGACGC chr12:50545262-Alternative-T;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative T cttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt AGCGCACTAATA CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAagcgcactaataAGATCGAGACCCGACGC chr12:50545262-Alternative-T;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative T cttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GAGTTAACGACC CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgagttaacgaccAGATCGAGACCCGACGC chr12:50545262-Alternative-T;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Variant A cttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt AGTGAGAACGCG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAagtgagaacgcgAGATCGAGACCCGACGC chr12:50545262-Variant-A;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Variant A cttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GTGTAGTCGTGC CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgtgtagtcgtgcAGATCGAGACCCGACGC chr12:50545262-Variant-A;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative T cttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt ACAGCTGTGAAT CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAacagctgtgaatAGATCGAGACCCGACGC chr12:50545262-Alternative-T;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Variant A cttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt AACCGTTCTTCT CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAaaccgttcttctAGATCGAGACCCGACGC chr12:50545262-Variant-A;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative T cttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GCCGGTATAATA CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtTgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgccggtataataAGATCGAGACCCGACGC chr12:50545262-Alternative-T;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Reference G cttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GTGACTCGATGC CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgtgactcgatgcAGATCGAGACCCGACGC chr12:50545262-Reference-G;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Variant A cttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt AGCAGCATCGAG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtAgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAagcagcatcgagAGATCGAGACCCGACGC chr12:50545262-Variant-A;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Reference G cttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt ACGTTGGTAAGA CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAacgttggtaagaAGATCGAGACCCGACGC chr12:50545262-Reference-G;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative C cttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt ATTGACCATGAG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAattgaccatgagAGATCGAGACCCGACGC chr12:50545262-Alternative-C;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative C cttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt CTAACCAACAAC CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAActaaccaacaacAGATCGAGACCCGACGC chr12:50545262-Alternative-C;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Reference G cttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GGATGCATGATA CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAggatgcatgataAGATCGAGACCCGACGC chr12:50545262-Reference-G;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative C cttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GTAAGCGGAAGG CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgtaagcggaaggAGATCGAGACCCGACGC chr12:50545262-Alternative-C;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative C cttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt CACGTGGTATAT CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAcacgtggtatatAGATCGAGACCCGACGC chr12:50545262-Alternative-C;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Reference G cttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt CGTCGTCTGGTT CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtGgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAcgtcgtctggttAGATCGAGACCCGACGC chr12:50545262-Reference-G;Patient-88 chr12:50545262-GA DeNovo Patient-88 intronic CERS5 6.4e-05 4.95e-05 0.52 9.6 -0.4 CERS5 15834 Alternative C cttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagt GATCCAACTGTT CGACGCGGTCTCTCTCTcttccttactgccactcttcctagtcttctccctctacctctttggcagtCgaactagactgcctggtaagcactgctagttgagtcaccttggacaagtAGAGGGAGACGGACGTCTCAATAAgatccaactgttAGATCGAGACCCGACGC chr12:50545262-Alternative-C;Patient-88 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Reference C tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattca GGTAAGAGATGT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAggtaagagatgtAGATCGAGACCCGACGC chr12:51593184-Reference-C;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Reference C tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattca CTCGTGTAACTT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAActcgtgtaacttAGATCGAGACCCGACGC chr12:51593184-Reference-C;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative A tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattca AGCGGATTCTAA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAagcggattctaaAGATCGAGACCCGACGC chr12:51593184-Alternative-A;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Reference C tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattca AGTTCCACGCGT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAagttccacgcgtAGATCGAGACCCGACGC chr12:51593184-Reference-C;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Variant T tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattca CATAAGTGCGAG CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAcataagtgcgagAGATCGAGACCCGACGC chr12:51593184-Variant-T;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Reference C tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattca AGGCGAAGCTGA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAaggcgaagctgaAGATCGAGACCCGACGC chr12:51593184-Reference-C;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative G tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattca AACGTGAATCAG CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAaacgtgaatcagAGATCGAGACCCGACGC chr12:51593184-Alternative-G;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative A tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattca AGACGCTATGTT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAagacgctatgttAGATCGAGACCCGACGC chr12:51593184-Alternative-A;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative A tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattca ATCAACGACGAA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAatcaacgacgaaAGATCGAGACCCGACGC chr12:51593184-Alternative-A;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Reference C tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattca ACTAAGCATCGC CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcCattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAactaagcatcgcAGATCGAGACCCGACGC chr12:51593184-Reference-C;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative G tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattca ACGCCTGATGAA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAacgcctgatgaaAGATCGAGACCCGACGC chr12:51593184-Alternative-G;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Variant T tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattca ACCAATGCGATA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAaccaatgcgataAGATCGAGACCCGACGC chr12:51593184-Variant-T;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Variant T tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattca CATGAGAGATGG CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAcatgagagatggAGATCGAGACCCGACGC chr12:51593184-Variant-T;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative A tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattca GTCCGTGGAGAA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAgtccgtggagaaAGATCGAGACCCGACGC chr12:51593184-Alternative-A;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Variant T tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattca ACGTGGTTCGCA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAacgtggttcgcaAGATCGAGACCCGACGC chr12:51593184-Variant-T;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative G tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattca CTCAATGTTGCT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAActcaatgttgctAGATCGAGACCCGACGC chr12:51593184-Alternative-G;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative G tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattca CGGTCTAATTGT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAcggtctaattgtAGATCGAGACCCGACGC chr12:51593184-Alternative-G;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative A tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattca GGTTAAGACGGC CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcAattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAggttaagacggcAGATCGAGACCCGACGC chr12:51593184-Alternative-A;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Alternative G tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattca GTATTCTGACGA CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcGattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAgtattctgacgaAGATCGAGACCCGACGC chr12:51593184-Alternative-G;Patient-11 chr12:51593184-CT DeNovo Patient-11 intronic POU6F1 NA 0.00016 0.65 10.72 2.68 POU6F1 18292 Variant T tcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattca GTTAGAGCTCTT CGACGCGGTCTCTCTCTtcatggtgctggggccactccctggctctaaatgaggactctgaacaatcTattaactcttacaggcatccactggagggccggcaagggtattcattcaAGAGGGAGACGGACGTCTCAATAAgttagagctcttAGATCGAGACCCGACGC chr12:51593184-Variant-T;Patient-11 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative A accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcat AGGAACGGAACG CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAaggaacggaacgAGATCGAGACCCGACGC chr12:5186674-Alternative-A;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative A accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcat GGCGAGTTAATA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAggcgagttaataAGATCGAGACCCGACGC chr12:5186674-Alternative-A;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative A accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcat GACTATGACACG CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgactatgacacgAGATCGAGACCCGACGC chr12:5186674-Alternative-A;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative A accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcat GTGAACTACGAG CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgtgaactacgagAGATCGAGACCCGACGC chr12:5186674-Alternative-A;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Reference C accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcat CAGGCTTGTGGT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcaggcttgtggtAGATCGAGACCCGACGC chr12:5186674-Reference-C;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Reference C accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcat CAGGTACCGTTA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcaggtaccgttaAGATCGAGACCCGACGC chr12:5186674-Reference-C;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Reference C accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcat GTATTCTGCGTT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgtattctgcgttAGATCGAGACCCGACGC chr12:5186674-Reference-C;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Reference C accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcat ACCGTATTAGTC CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAaccgtattagtcAGATCGAGACCCGACGC chr12:5186674-Reference-C;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Reference C accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcat GTAAGCGATTCA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagCtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgtaagcgattcaAGATCGAGACCCGACGC chr12:5186674-Reference-C;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative A accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcat AACTAGCGCGTC CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagAtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAaactagcgcgtcAGATCGAGACCCGACGC chr12:5186674-Alternative-A;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Variant T accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcat CGCAACTAAGAA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcgcaactaagaaAGATCGAGACCCGACGC chr12:5186674-Variant-T;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Variant T accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcat GCGGACGCTTAA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgcggacgcttaaAGATCGAGACCCGACGC chr12:5186674-Variant-T;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Variant T accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcat CGTCGAACATCG CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcgtcgaacatcgAGATCGAGACCCGACGC chr12:5186674-Variant-T;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Variant T accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcat CGGTGTGGTTCT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcggtgtggttctAGATCGAGACCCGACGC chr12:5186674-Variant-T;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Variant T accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcat GACGAGAACGAT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagTtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgacgagaacgatAGATCGAGACCCGACGC chr12:5186674-Variant-T;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative G accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcat AAGACCTGCGAG CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAaagacctgcgagAGATCGAGACCCGACGC chr12:5186674-Alternative-G;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative G accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcat GGATAGAGTCAT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAggatagagtcatAGATCGAGACCCGACGC chr12:5186674-Alternative-G;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative G accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcat GTCTCTTGCGCT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAgtctcttgcgctAGATCGAGACCCGACGC chr12:5186674-Alternative-G;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative G accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcat CACATAAGCGAT CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAcacataagcgatAGATCGAGACCCGACGC chr12:5186674-Alternative-G;Patient-54 chr12:5186674-CT Inherited Patient-54 intergenic 0.000127 0.000512821 -0.21 0.65 -1.23 KCNA5 33588 Alternative G accattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcat GGTATGCTACTA CGACGCGGTCTCTCTCTaccattttttaaaaaggcctgggggaagaaagaattctgccagtgagaagGtatacctacaccatttactaccacctggtcatctcctttctgactgcatAGAGGGAGACGGACGTCTCAATAAggtatgctactaAGATCGAGACCCGACGC chr12:5186674-Alternative-G;Patient-54 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Variant C cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AACGTGGCGTCA CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAaacgtggcgtcaAGATCGAGACCCGACGC chr12:53534135-Variant-C;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Reference T cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CGCGTATTAGTC CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAcgcgtattagtcAGATCGAGACCCGACGC chr12:53534135-Reference-T;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative A cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaattttt ATAGTTCGAACC CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAatagttcgaaccAGATCGAGACCCGACGC chr12:53534135-Alternative-A;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Reference T cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaattttt GTTATTCGGCTT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAgttattcggcttAGATCGAGACCCGACGC chr12:53534135-Reference-T;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative A cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaattttt ATTACCAAGTCG CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAattaccaagtcgAGATCGAGACCCGACGC chr12:53534135-Alternative-A;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative A cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CGTAGCAGTTAT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAcgtagcagttatAGATCGAGACCCGACGC chr12:53534135-Alternative-A;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Reference T cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AATGCGTCATCA CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAaatgcgtcatcaAGATCGAGACCCGACGC chr12:53534135-Reference-T;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative A cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaattttt ATTCGTGAAGCT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAattcgtgaagctAGATCGAGACCCGACGC chr12:53534135-Alternative-A;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Variant C cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AACGACGAACTA CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAaacgacgaactaAGATCGAGACCCGACGC chr12:53534135-Variant-C;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative G cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaattttt GGTATTCAATCG CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAggtattcaatcgAGATCGAGACCCGACGC chr12:53534135-Alternative-G;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Variant C cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AAGGCTAGTAAG CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAaaggctagtaagAGATCGAGACCCGACGC chr12:53534135-Variant-C;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Variant C cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CAGCGGTCAACT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAcagcggtcaactAGATCGAGACCCGACGC chr12:53534135-Variant-C;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative G cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaattttt GCGTCCAATATA CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAgcgtccaatataAGATCGAGACCCGACGC chr12:53534135-Alternative-G;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Variant C cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CAGACGATCGTC CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcCgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAcagacgatcgtcAGATCGAGACCCGACGC chr12:53534135-Variant-C;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative A cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AACCGCTCCGTT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcAgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAaaccgctccgttAGATCGAGACCCGACGC chr12:53534135-Alternative-A;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative G cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CTCATAAGCCGT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAActcataagccgtAGATCGAGACCCGACGC chr12:53534135-Alternative-G;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Reference T cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaattttt AGCTTGGTTGAT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAagcttggttgatAGATCGAGACCCGACGC chr12:53534135-Reference-T;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative G cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaattttt GAATTGTCTCGT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAgaattgtctcgtAGATCGAGACCCGACGC chr12:53534135-Alternative-G;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Reference T cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaattttt GTCGTCACCATC CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcTgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAAgtcgtcaccatcAGATCGAGACCCGACGC chr12:53534135-Reference-T;Patient-66 chr12:53534135-TC DeNovo Patient-66 intergenic NA 0.000513 -0.09 1.47 0 SOAT2 36860 Alternative G cttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaattttt CTATCGTACGTT CGACGCGGTCTCTCTCTcttgacctcctgggctcaagcaatcgtcccatcttagcccccagagtagcGgggactatagacttacaccaccacacactgttaatttaaaaaaatttttAGAGGGAGACGGACGTCTCAATAActatcgtacgttAGATCGAGACCCGACGC chr12:53534135-Alternative-G;Patient-66 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative C accaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc ACGTCCTTCAAT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAacgtccttcaatAGATCGAGACCCGACGC chr12:53707147-Alternative-C;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Variant A accaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GATGTAACCTGA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAgatgtaacctgaAGATCGAGACCCGACGC chr12:53707147-Variant-A;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative C accaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc AATCGTCCTGAT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAaatcgtcctgatAGATCGAGACCCGACGC chr12:53707147-Alternative-C;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative C accaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CAAGCAACTCGG CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAcaagcaactcggAGATCGAGACCCGACGC chr12:53707147-Alternative-C;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative C accaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CAGATAATGCGT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAcagataatgcgtAGATCGAGACCCGACGC chr12:53707147-Alternative-C;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Variant A accaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GCCGTACTATAA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAgccgtactataaAGATCGAGACCCGACGC chr12:53707147-Variant-A;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Variant A accaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GTCAGTGCCAGT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAgtcagtgccagtAGATCGAGACCCGACGC chr12:53707147-Variant-A;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative C accaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc AACGTAGTGCCG CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcCccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAaacgtagtgccgAGATCGAGACCCGACGC chr12:53707147-Alternative-C;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Variant A accaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc ACTGTCGATAGA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAactgtcgatagaAGATCGAGACCCGACGC chr12:53707147-Variant-A;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Reference G accaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CTAACGCCGAAG CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAActaacgccgaagAGATCGAGACCCGACGC chr12:53707147-Reference-G;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Variant A accaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CGAGGATCTAGG CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcAccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAcgaggatctaggAGATCGAGACCCGACGC chr12:53707147-Variant-A;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Reference G accaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc ACTACGATGCTT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAactacgatgcttAGATCGAGACCCGACGC chr12:53707147-Reference-G;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative T accaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GTTATCCGTAGT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAgttatccgtagtAGATCGAGACCCGACGC chr12:53707147-Alternative-T;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative T accaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CACTATCGCTTA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAcactatcgcttaAGATCGAGACCCGACGC chr12:53707147-Alternative-T;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative T accaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GACGAGGCCTAA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAgacgaggcctaaAGATCGAGACCCGACGC chr12:53707147-Alternative-T;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Reference G accaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc ACGATACAACAG CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAacgatacaacagAGATCGAGACCCGACGC chr12:53707147-Reference-G;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative T accaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc CTAAGGCCGGAT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAActaaggccggatAGATCGAGACCCGACGC chr12:53707147-Alternative-T;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Reference G accaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc ACCACATCGAAT CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAaccacatcgaatAGATCGAGACCCGACGC chr12:53707147-Reference-G;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Alternative T accaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc AACTTGGTCGGC CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcTccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAaacttggtcggcAGATCGAGACCCGACGC chr12:53707147-Alternative-T;Patient-87 chr12:53707147-GA Inherited Patient-87 intronic AAAS 0.000192 0.000251 -0.27 0.46 -0.95 AAAS 8264 Reference G accaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccaccc GGTCGGCCATTA CGACGCGGTCTCTCTCTaccaccacgtccagctaatttttttgtatttttagtagagatggggtttcGccatgttggccaggctggtttcgaactcctggcctcaagaaatccacccAGAGGGAGACGGACGTCTCAATAAggtcggccattaAGATCGAGACCCGACGC chr12:53707147-Reference-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Variant G cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat GGCGCGATATCA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAggcgcgatatcaAGATCGAGACCCGACGC chr12:54102866-Variant-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Variant G cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CGTTCGCGCTAT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcgttcgcgctatAGATCGAGACCCGACGC chr12:54102866-Variant-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Variant G cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CGTGGAGAACGT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcgtggagaacgtAGATCGAGACCCGACGC chr12:54102866-Variant-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Variant G cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat AACACCTTCGTT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAaacaccttcgttAGATCGAGACCCGACGC chr12:54102866-Variant-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Variant G cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat GCGATTACTCTT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataGtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAgcgattactcttAGATCGAGACCCGACGC chr12:54102866-Variant-G;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative T cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CGACCATACGGT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcgaccatacggtAGATCGAGACCCGACGC chr12:54102866-Alternative-T;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative T cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat AGATTCGTTCCA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAagattcgttccaAGATCGAGACCCGACGC chr12:54102866-Alternative-T;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Reference C cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ACAAGCAGTCGC CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAacaagcagtcgcAGATCGAGACCCGACGC chr12:54102866-Reference-C;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Reference C cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CAGTTACTTAGG CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcagttacttaggAGATCGAGACCCGACGC chr12:54102866-Reference-C;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative T cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CAACATAGAGCA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcaacatagagcaAGATCGAGACCCGACGC chr12:54102866-Alternative-T;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative A cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ACGAGTTACAGT CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAacgagttacagtAGATCGAGACCCGACGC chr12:54102866-Alternative-A;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Reference C cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ATTGATGGCGGC CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAattgatggcggcAGATCGAGACCCGACGC chr12:54102866-Reference-C;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Reference C cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ACGCAAGTTATC CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAacgcaagttatcAGATCGAGACCCGACGC chr12:54102866-Reference-C;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Reference C cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat CGCATCAATTGA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataCtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAcgcatcaattgaAGATCGAGACCCGACGC chr12:54102866-Reference-C;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative A cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat GTAAGTCGAGCG CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAgtaagtcgagcgAGATCGAGACCCGACGC chr12:54102866-Alternative-A;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative A cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ACTGAATGGACG CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAactgaatggacgAGATCGAGACCCGACGC chr12:54102866-Alternative-A;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative T cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat AGGCGAACTCAA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAaggcgaactcaaAGATCGAGACCCGACGC chr12:54102866-Alternative-T;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative A cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat GACGACGTAATA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAgacgacgtaataAGATCGAGACCCGACGC chr12:54102866-Alternative-A;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative T cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat GGCTGCGTCTAA CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataTtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAggctgcgtctaaAGATCGAGACCCGACGC chr12:54102866-Alternative-T;Patient-87 chr12:54102866-CG Inherited Patient-87 intergenic 0.00051 0.00205 1.09 13.83 3.29 ATP5MC2 32353 Alternative A cgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacat ATCACGGTCTGG CGACGCGGTCTCTCTCTcgataagtgggggagtggtgtgtttggattcgttctttcaccaccaaataAtgacgcgagttcctatttgctgctacttggctgacatctcctttcacatAGAGGGAGACGGACGTCTCAATAAatcacggtctggAGATCGAGACCCGACGC chr12:54102866-Alternative-A;Patient-87 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative A tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattacc GAGGTGATACTA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAgaggtgatactaAGATCGAGACCCGACGC chr12:54135140-Alternative-A;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative G tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattacc CGTCCTTCGTGA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAcgtccttcgtgaAGATCGAGACCCGACGC chr12:54135140-Alternative-G;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative G tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattacc GGTCGTCAAGCT CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAggtcgtcaagctAGATCGAGACCCGACGC chr12:54135140-Alternative-G;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Variant T tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattacc ACGAACTAGTAC CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAacgaactagtacAGATCGAGACCCGACGC chr12:54135140-Variant-T;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative G tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattacc ACTGGTCGGAGT CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAactggtcggagtAGATCGAGACCCGACGC chr12:54135140-Alternative-G;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Reference C tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattacc GGAACGACGTCA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAggaacgacgtcaAGATCGAGACCCGACGC chr12:54135140-Reference-C;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative G tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattacc CTTGGTGACTAA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAActtggtgactaaAGATCGAGACCCGACGC chr12:54135140-Alternative-G;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative A tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattacc ATCATCTAAGCG CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAatcatctaagcgAGATCGAGACCCGACGC chr12:54135140-Alternative-A;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative G tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattacc AGGCTTGTCCGA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaGttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAaggcttgtccgaAGATCGAGACCCGACGC chr12:54135140-Alternative-G;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative A tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattacc CACTTCCGGACA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAcacttccggacaAGATCGAGACCCGACGC chr12:54135140-Alternative-A;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Variant T tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattacc GACTGCGTAATA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAgactgcgtaataAGATCGAGACCCGACGC chr12:54135140-Variant-T;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative A tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattacc AGACCATCAATC CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAagaccatcaatcAGATCGAGACCCGACGC chr12:54135140-Alternative-A;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Variant T tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattacc GTAACGATGAAC CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAgtaacgatgaacAGATCGAGACCCGACGC chr12:54135140-Variant-T;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Variant T tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattacc CATCGATTACGA CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAcatcgattacgaAGATCGAGACCCGACGC chr12:54135140-Variant-T;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Reference C tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattacc ATCACGTATGGT CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAatcacgtatggtAGATCGAGACCCGACGC chr12:54135140-Reference-C;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Reference C tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattacc GATGCAACTAAG CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAgatgcaactaagAGATCGAGACCCGACGC chr12:54135140-Reference-C;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Alternative A tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattacc CGCACGATTACG CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaAttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAcgcacgattacgAGATCGAGACCCGACGC chr12:54135140-Alternative-A;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Variant T tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattacc CATTGACGCGGT CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaTttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAcattgacgcggtAGATCGAGACCCGACGC chr12:54135140-Variant-T;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Reference C tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattacc AGCGTTGGTCGT CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAagcgttggtcgtAGATCGAGACCCGACGC chr12:54135140-Reference-C;Patient-105 chr12:54135140-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.21 0.67 -1.53 CALCOCO1 13832 Reference C tctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattacc AACGCGATGCAC CGACGCGGTCTCTCTCTtctgccacccactccacaggttttgaccattagcttctaaccaacctgcaCttcctaactctagattcaccctactccacttcagggtggtagaattaccAGAGGGAGACGGACGTCTCAATAAaacgcgatgcacAGATCGAGACCCGACGC chr12:54135140-Reference-C;Patient-105 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative G tagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct ACCTACCTGCAC CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAacctacctgcacAGATCGAGACCCGACGC chr12:54378696-Alternative-G;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative T tagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CGTCGATGTGCA CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAcgtcgatgtgcaAGATCGAGACCCGACGC chr12:54378696-Alternative-T;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative T tagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct AGGACCGTGAAT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAaggaccgtgaatAGATCGAGACCCGACGC chr12:54378696-Alternative-T;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative T tagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct GATTGCTTGGAT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAgattgcttggatAGATCGAGACCCGACGC chr12:54378696-Alternative-T;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative T tagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CTGCTTGGTATT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAActgcttggtattAGATCGAGACCCGACGC chr12:54378696-Alternative-T;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative G tagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct ACGATACTCCGG CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAacgatactccggAGATCGAGACCCGACGC chr12:54378696-Alternative-G;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative G tagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct AACTACGGCTGT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAaactacggctgtAGATCGAGACCCGACGC chr12:54378696-Alternative-G;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative G tagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CAGCGAGATACG CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAcagcgagatacgAGATCGAGACCCGACGC chr12:54378696-Alternative-G;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative G tagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct ACTAACTCATGG CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgGcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAactaactcatggAGATCGAGACCCGACGC chr12:54378696-Alternative-G;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Variant A tagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct GTAATGCGCTAT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAgtaatgcgctatAGATCGAGACCCGACGC chr12:54378696-Variant-A;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Variant A tagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct ATCCTCATGCAC CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAatcctcatgcacAGATCGAGACCCGACGC chr12:54378696-Variant-A;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Reference C tagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct GGTGGCTACATC CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAggtggctacatcAGATCGAGACCCGACGC chr12:54378696-Reference-C;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Variant A tagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CTCGTTGATGTT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAActcgttgatgttAGATCGAGACCCGACGC chr12:54378696-Variant-A;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Alternative T tagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct AACAGACGCTAA CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgTcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAaacagacgctaaAGATCGAGACCCGACGC chr12:54378696-Alternative-T;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Variant A tagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CTTGATCCTATC CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAActtgatcctatcAGATCGAGACCCGACGC chr12:54378696-Variant-A;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Reference C tagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct AACGTTCATGGT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAaacgttcatggtAGATCGAGACCCGACGC chr12:54378696-Reference-C;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Reference C tagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct ATTCGACTGGCG CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAattcgactggcgAGATCGAGACCCGACGC chr12:54378696-Reference-C;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Variant A tagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct GATAATGCTAGG CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgAcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAgataatgctaggAGATCGAGACCCGACGC chr12:54378696-Variant-A;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Reference C tagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct CACAGCGATTAT CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAcacagcgattatAGATCGAGACCCGACGC chr12:54378696-Reference-C;Patient-76 chr12:54378696-CA Inherited Patient-76 intergenic 0.000605 0.00112 1.81 17.55 3.25 HOXC10 249 Reference C tagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccct GACCTCAACCTA CGACGCGGTCTCTCTCTtagaacccccacccccacccccacccccctccacccctctacctcccctgCcgcccggggggcgcttcctttgttcgcggggaagggctccggtgcccctAGAGGGAGACGGACGTCTCAATAAgacctcaacctaAGATCGAGACCCGACGC chr12:54378696-Reference-C;Patient-76 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Variant T ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AGCATTCCTAAG CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAagcattcctaagAGATCGAGACCCGACGC chr12:55060247-Variant-T;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Variant T ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GATTAGCAGGAT CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgattagcaggatAGATCGAGACCCGACGC chr12:55060247-Variant-T;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Variant T ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GCGTGTACCTGA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgcgtgtacctgaAGATCGAGACCCGACGC chr12:55060247-Variant-T;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Variant T ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ATCCGGTCAGCT CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAatccggtcagctAGATCGAGACCCGACGC chr12:55060247-Variant-T;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative A ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AATCGCGGAACG CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAaatcgcggaacgAGATCGAGACCCGACGC chr12:55060247-Alternative-A;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative A ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AGGCTACAACTA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAaggctacaactaAGATCGAGACCCGACGC chr12:55060247-Alternative-A;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Variant T ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ACTCCGTGATAA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacTttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAactccgtgataaAGATCGAGACCCGACGC chr12:55060247-Variant-T;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Reference C ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AACGATTAAGCG CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAaacgattaagcgAGATCGAGACCCGACGC chr12:55060247-Reference-C;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative A ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ACTGAGAGTCAA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAactgagagtcaaAGATCGAGACCCGACGC chr12:55060247-Alternative-A;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Reference C ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ACCGTCGAAGCT CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAaccgtcgaagctAGATCGAGACCCGACGC chr12:55060247-Reference-C;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative G ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GGTGTCGTGTAC CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAggtgtcgtgtacAGATCGAGACCCGACGC chr12:55060247-Alternative-G;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Reference C ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag CAATGGCTGTGC CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAcaatggctgtgcAGATCGAGACCCGACGC chr12:55060247-Reference-C;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative A ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GCGGTCATTCCT CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgcggtcattcctAGATCGAGACCCGACGC chr12:55060247-Alternative-A;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative A ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GACCGCGCATAA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacAttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgaccgcgcataaAGATCGAGACCCGACGC chr12:55060247-Alternative-A;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Reference C ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ACTCTCTCACTT CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAactctctcacttAGATCGAGACCCGACGC chr12:55060247-Reference-C;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Reference C ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GTATATTCCGAC CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacCttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgtatattccgacAGATCGAGACCCGACGC chr12:55060247-Reference-C;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative G ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AGCGTTCGACAC CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAagcgttcgacacAGATCGAGACCCGACGC chr12:55060247-Alternative-G;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative G ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag GCGCATACGAAG CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAgcgcatacgaagAGATCGAGACCCGACGC chr12:55060247-Alternative-G;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative G ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag AATAAGCGACCA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAaataagcgaccaAGATCGAGACCCGACGC chr12:55060247-Alternative-G;Patient-81 chr12:55060247-CT DeNovo Patient-81 intergenic 3.2e-05 0.001025641 0.53 9.62 -0.26 PPP1R1A 77803 Alternative G ttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagag ACGAGTCAATGA CGACGCGGTCTCTCTCTttattgggaaacctttctgtcagcatcctcatcgtattcaccccttgcacGttccatgagagaagatgagagaaaaagggagagaaagagagaaagagagAGAGGGAGACGGACGTCTCAATAAacgagtcaatgaAGATCGAGACCCGACGC chr12:55060247-Alternative-G;Patient-81 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Reference G taattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CTTACGTGACGG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAActtacgtgacggAGATCGAGACCCGACGC chr12:55278686-Reference-G;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative T taattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ATAACGCCGACT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAataacgccgactAGATCGAGACCCGACGC chr12:55278686-Alternative-T;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative T taattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ACTTCCGGAAGG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAacttccggaaggAGATCGAGACCCGACGC chr12:55278686-Alternative-T;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Variant A taattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt AGTAGCGGTATC CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAagtagcggtatcAGATCGAGACCCGACGC chr12:55278686-Variant-A;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative C taattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt GATTGGTTCTGA CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAgattggttctgaAGATCGAGACCCGACGC chr12:55278686-Alternative-C;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Variant A taattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ATTCTCGTCTTC CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAattctcgtcttcAGATCGAGACCCGACGC chr12:55278686-Variant-A;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative T taattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CGCGACATTGGT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAcgcgacattggtAGATCGAGACCCGACGC chr12:55278686-Alternative-T;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Reference G taattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt GGTACTAAGCAT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAggtactaagcatAGATCGAGACCCGACGC chr12:55278686-Reference-G;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Reference G taattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ATACGGACGTGG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAatacggacgtggAGATCGAGACCCGACGC chr12:55278686-Reference-G;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative C taattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CTAGGCGTCAAG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAActaggcgtcaagAGATCGAGACCCGACGC chr12:55278686-Alternative-C;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative C taattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ATTGCGCTATGT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAattgcgctatgtAGATCGAGACCCGACGC chr12:55278686-Alternative-C;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative C taattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt GCGGTCTATCCT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAgcggtctatcctAGATCGAGACCCGACGC chr12:55278686-Alternative-C;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative T taattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt GAAGAGTACCTT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAgaagagtaccttAGATCGAGACCCGACGC chr12:55278686-Alternative-T;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Variant A taattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ATCGAATCCGAC CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAatcgaatccgacAGATCGAGACCCGACGC chr12:55278686-Variant-A;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Reference G taattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ACTTCGAAGCAT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAacttcgaagcatAGATCGAGACCCGACGC chr12:55278686-Reference-G;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative T taattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CAGTTAACGGAG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaTtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAcagttaacggagAGATCGAGACCCGACGC chr12:55278686-Alternative-T;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Variant A taattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CTGCGGCATACT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAActgcggcatactAGATCGAGACCCGACGC chr12:55278686-Variant-A;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Reference G taattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt CATAGAGGTAGG CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaGtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAcatagaggtaggAGATCGAGACCCGACGC chr12:55278686-Reference-G;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Alternative C taattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt ACTCCGAAGTAT CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaCtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAactccgaagtatAGATCGAGACCCGACGC chr12:55278686-Alternative-C;Patient-21 chr12:55278686-GA Inherited Patient-21 intergenic NA 0.000512821 -0.2 0.7 0 MUCL1 30386 Variant A taattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtctt GTTGTATCCAAC CGACGCGGTCTCTCTCTtaattgaataccctttatttccttctcctgcctaattgccctggccagaaAtttcaacactatgttgaataggagtggtgagagagggcatccctgtcttAGAGGGAGACGGACGTCTCAATAAgttgtatccaacAGATCGAGACCCGACGC chr12:55278686-Variant-A;Patient-21 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Reference A tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccag ATTGTTCCAACC CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAattgttccaaccAGATCGAGACCCGACGC chr12:5539348-Reference-A;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative C tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CAAGCTATAACG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAcaagctataacgAGATCGAGACCCGACGC chr12:5539348-Alternative-C;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative C tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CGGTAACGTATC CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAcggtaacgtatcAGATCGAGACCCGACGC chr12:5539348-Alternative-C;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative C tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccag AGCTATAAGCGA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAagctataagcgaAGATCGAGACCCGACGC chr12:5539348-Alternative-C;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative C tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccag ATTGGTCACGAA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAattggtcacgaaAGATCGAGACCCGACGC chr12:5539348-Alternative-C;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative C tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccag AGCGTCCAACCA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagCactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAagcgtccaaccaAGATCGAGACCCGACGC chr12:5539348-Alternative-C;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Reference A tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CTGCGCATATAA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAActgcgcatataaAGATCGAGACCCGACGC chr12:5539348-Reference-A;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Variant T tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccag AGCGCGAAGCTA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAagcgcgaagctaAGATCGAGACCCGACGC chr12:5539348-Variant-T;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Variant T tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccag GTTCGCGTACAC CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAgttcgcgtacacAGATCGAGACCCGACGC chr12:5539348-Variant-T;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative G tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccag GAATTGCGTAGA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAgaattgcgtagaAGATCGAGACCCGACGC chr12:5539348-Alternative-G;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Variant T tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CAACGCCAATGA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAcaacgccaatgaAGATCGAGACCCGACGC chr12:5539348-Variant-T;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Reference A tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CATAGCTTGACA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAcatagcttgacaAGATCGAGACCCGACGC chr12:5539348-Reference-A;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Variant T tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CTTAGGAACACG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAActtaggaacacgAGATCGAGACCCGACGC chr12:5539348-Variant-T;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Reference A tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CATATTCTGTCG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAcatattctgtcgAGATCGAGACCCGACGC chr12:5539348-Reference-A;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative G tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccag GGCTGCTTCGTT CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAggctgcttcgttAGATCGAGACCCGACGC chr12:5539348-Alternative-G;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative G tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccag AGACCGGTTGCA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAagaccggttgcaAGATCGAGACCCGACGC chr12:5539348-Alternative-G;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Variant T tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccag CTAGACTAGAAG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagTactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAActagactagaagAGATCGAGACCCGACGC chr12:5539348-Variant-T;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative G tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccag GAATCAACCTGG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAgaatcaacctggAGATCGAGACCCGACGC chr12:5539348-Alternative-G;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Reference A tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccag ATTGAACGAAGG CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagAactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAattgaacgaaggAGATCGAGACCCGACGC chr12:5539348-Reference-A;Patient-16 chr12:5539348-AT DeNovo Patient-16 intergenic NA 0.000513 0.19 5.76 1.25 NTF3 1931 Alternative G tctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccag ATTCGTGCTGAA CGACGCGGTCTCTCTCTtctttccttgcaatcttcaggttcccagaggacctggagcttgagaaaagGactctgccagtggatctgaaactggggcctgaatccctcctttgaccagAGAGGGAGACGGACGTCTCAATAAattcgtgctgaaAGATCGAGACCCGACGC chr12:5539348-Alternative-G;Patient-16 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative G tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CTGAATAGCGCG CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAActgaatagcgcgAGATCGAGACCCGACGC chr12:562590-Alternative-G;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative A tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GACGAGTGGTCA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgacgagtggtcaAGATCGAGACCCGACGC chr12:562590-Alternative-A;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative G tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc AGCGTGCAGTAT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAagcgtgcagtatAGATCGAGACCCGACGC chr12:562590-Alternative-G;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative A tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CACACGACAGTT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAcacacgacagttAGATCGAGACCCGACGC chr12:562590-Alternative-A;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative A tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CGAGTGTTAAGA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAcgagtgttaagaAGATCGAGACCCGACGC chr12:562590-Alternative-A;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Variant T tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GATGCGGTAGTC CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgatgcggtagtcAGATCGAGACCCGACGC chr12:562590-Variant-T;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative A tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GACGCTAACGAT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgacgctaacgatAGATCGAGACCCGACGC chr12:562590-Alternative-A;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative A tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GTATAGCGCATT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggAttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgtatagcgcattAGATCGAGACCCGACGC chr12:562590-Alternative-A;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Reference C tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GTTCGATCGTTA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgttcgatcgttaAGATCGAGACCCGACGC chr12:562590-Reference-C;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Variant T tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GGCTCACTCGAA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAggctcactcgaaAGATCGAGACCCGACGC chr12:562590-Variant-T;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Variant T tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc ACCGAGATGAGA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAaccgagatgagaAGATCGAGACCCGACGC chr12:562590-Variant-T;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Reference C tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GTCATCGAAGTT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgtcatcgaagttAGATCGAGACCCGACGC chr12:562590-Reference-C;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative G tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CGCCTATGCTGA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAcgcctatgctgaAGATCGAGACCCGACGC chr12:562590-Alternative-G;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Reference C tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc AGGCAGTAGCGT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAaggcagtagcgtAGATCGAGACCCGACGC chr12:562590-Reference-C;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Variant T tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc AACGGCGTCTGT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAaacggcgtctgtAGATCGAGACCCGACGC chr12:562590-Variant-T;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative G tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc AGGACGACGGAA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAaggacgacggaaAGATCGAGACCCGACGC chr12:562590-Alternative-G;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Alternative G tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CGACTAGTTGCA CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggGttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAcgactagttgcaAGATCGAGACCCGACGC chr12:562590-Alternative-G;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Variant T tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc AACACTTACGAC CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggTttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAaacacttacgacAGATCGAGACCCGACGC chr12:562590-Variant-T;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Reference C tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc CTAACGGCGGTT CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAActaacggcggttAGATCGAGACCCGACGC chr12:562590-Reference-C;Patient-7 chr12:562590-CT DeNovo Patient-7 intergenic 0.000263 0.118 -0.05 1.88 -0.85 KDM5A 63969 Reference C tgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttcc GACGATGTGGAC CGACGCGGTCTCTCTCTtgcggtgcagaggcgacgttgccctttcctctccggggccgagcggggggCttgccgcccgcagggggcgctgcggtgcagaggcgacgttgccctttccAGAGGGAGACGGACGTCTCAATAAgacgatgtggacAGATCGAGACCCGACGC chr12:562590-Reference-C;Patient-7 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Variant G atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa CAACTCGCTTCG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAcaactcgcttcgAGATCGAGACCCGACGC chr12:56508174-Variant-G;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Variant G atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa CTTGCATACGTT CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAActtgcatacgttAGATCGAGACCCGACGC chr12:56508174-Variant-G;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Variant G atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GGATGAACTCGG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAggatgaactcggAGATCGAGACCCGACGC chr12:56508174-Variant-G;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Reference T atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GTCGCGGATCTT CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAgtcgcggatcttAGATCGAGACCCGACGC chr12:56508174-Reference-T;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Reference T atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa AGGTAAGGCAGT CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAaggtaaggcagtAGATCGAGACCCGACGC chr12:56508174-Reference-T;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative A atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa ACGCTTCAACGG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAacgcttcaacggAGATCGAGACCCGACGC chr12:56508174-Alternative-A;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative A atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa ACCAACGCGAAC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAaccaacgcgaacAGATCGAGACCCGACGC chr12:56508174-Alternative-A;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Variant G atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GTATACACCGAA CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAgtatacaccgaaAGATCGAGACCCGACGC chr12:56508174-Variant-G;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Reference T atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GTTATGCCGACC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAgttatgccgaccAGATCGAGACCCGACGC chr12:56508174-Reference-T;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Reference T atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa CTACACAGATCA CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAActacacagatcaAGATCGAGACCCGACGC chr12:56508174-Reference-T;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Variant G atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa ATATGAGGTTCG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgGtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAatatgaggttcgAGATCGAGACCCGACGC chr12:56508174-Variant-G;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative A atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GGAGATCGAACT CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAggagatcgaactAGATCGAGACCCGACGC chr12:56508174-Alternative-A;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Reference T atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa AGATAGGACTTC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgTtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAagataggacttcAGATCGAGACCCGACGC chr12:56508174-Reference-T;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative A atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GTCGTGATTCGG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAgtcgtgattcggAGATCGAGACCCGACGC chr12:56508174-Alternative-A;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative C atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GTAGGATCGTGG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAgtaggatcgtggAGATCGAGACCCGACGC chr12:56508174-Alternative-C;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative C atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa CAGCGAATTATC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAcagcgaattatcAGATCGAGACCCGACGC chr12:56508174-Alternative-C;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative C atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GGCTCTTCGTCA CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAggctcttcgtcaAGATCGAGACCCGACGC chr12:56508174-Alternative-C;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative C atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa ATCGGACTATAC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAatcggactatacAGATCGAGACCCGACGC chr12:56508174-Alternative-C;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative A atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa ATACCAACGACC CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgAtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAataccaacgaccAGATCGAGACCCGACGC chr12:56508174-Alternative-A;Patient-92 chr12:56508174-TG Inherited Patient-92 intergenic 3.2e-05 0.000513 0.2 5.88 -0.82 ERBB3 34364 Alternative C atatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaa GGTGTTATAAGG CGACGCGGTCTCTCTCTatatctaccattaaaatagagtagttttagtgccctaaaaatcctctgtgCtttgcctgttcatctctctctccttgcttacgcatttgtccaaaggcaaAGAGGGAGACGGACGTCTCAATAAggtgttataaggAGATCGAGACCCGACGC chr12:56508174-Alternative-C;Patient-92 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Variant G ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt CGCTTCTACGAT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAcgcttctacgatAGATCGAGACCCGACGC chr12:56669682-Variant-G;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Variant G ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt CTTGAGCGACAC CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAActtgagcgacacAGATCGAGACCCGACGC chr12:56669682-Variant-G;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative T ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt CGCTGACGATAT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAcgctgacgatatAGATCGAGACCCGACGC chr12:56669682-Alternative-T;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Variant G ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GACGCAACATAA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAgacgcaacataaAGATCGAGACCCGACGC chr12:56669682-Variant-G;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative T ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt CTTGCTTGCGTC CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAActtgcttgcgtcAGATCGAGACCCGACGC chr12:56669682-Alternative-T;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Reference A ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GGCTTGGATTGC CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAggcttggattgcAGATCGAGACCCGACGC chr12:56669682-Reference-A;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Reference A ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AATACGTCGCAT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAaatacgtcgcatAGATCGAGACCCGACGC chr12:56669682-Reference-A;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Variant G ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AGATCCGGCATT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAagatccggcattAGATCGAGACCCGACGC chr12:56669682-Variant-G;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative T ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AGTCATTGGACA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAagtcattggacaAGATCGAGACCCGACGC chr12:56669682-Alternative-T;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative T ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AGGCTCGATAGG CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAaggctcgataggAGATCGAGACCCGACGC chr12:56669682-Alternative-T;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Variant G ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GGCCATTGGTTA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctGtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAggccattggttaAGATCGAGACCCGACGC chr12:56669682-Variant-G;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Reference A ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AGCTAGGTGAAC CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAagctaggtgaacAGATCGAGACCCGACGC chr12:56669682-Reference-A;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative T ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GGTCGGCAAGAT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctTtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAggtcggcaagatAGATCGAGACCCGACGC chr12:56669682-Alternative-T;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Reference A ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GTAAGGACAGCA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAgtaaggacagcaAGATCGAGACCCGACGC chr12:56669682-Reference-A;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Reference A ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt CGTCTGAGGTCA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctAtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAcgtctgaggtcaAGATCGAGACCCGACGC chr12:56669682-Reference-A;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative C ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GTAACGCTGACC CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAgtaacgctgaccAGATCGAGACCCGACGC chr12:56669682-Alternative-C;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative C ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GACTACTCGATA CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAgactactcgataAGATCGAGACCCGACGC chr12:56669682-Alternative-C;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative C ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt AAGGCTCGCGTT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAaaggctcgcgttAGATCGAGACCCGACGC chr12:56669682-Alternative-C;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative C ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GTCGATAAGCGG CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAgtcgataagcggAGATCGAGACCCGACGC chr12:56669682-Alternative-C;Patient-60 chr12:56669682-AG DeNovo Patient-60 intronic CS NA 9.9e-05 NA NA NA COQ10A 9039 Alternative C ttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaattt GGAACGTTCCGT CGACGCGGTCTCTCTCTttcttgccttggatcatcctttatgccacgtttctgtcttcttgctgcctCtcatctgttctcagaagatgagaacataaaggagcttttaaaaaaatttAGAGGGAGACGGACGTCTCAATAAggaacgttccgtAGATCGAGACCCGACGC chr12:56669682-Alternative-C;Patient-60 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative T aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CTTACAAGCCGC CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAActtacaagccgcAGATCGAGACCCGACGC chr12:57082547-Alternative-T;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Reference A aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca ATAATGTACGCG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAataatgtacgcgAGATCGAGACCCGACGC chr12:57082547-Reference-A;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Reference A aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CAAGCGACCGAT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcaagcgaccgatAGATCGAGACCCGACGC chr12:57082547-Reference-A;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative T aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CAGATTACGACT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcagattacgactAGATCGAGACCCGACGC chr12:57082547-Alternative-T;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative C aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CATTAGTAGTCG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcattagtagtcgAGATCGAGACCCGACGC chr12:57082547-Alternative-C;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative C aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca AGTAGCGCTATT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAagtagcgctattAGATCGAGACCCGACGC chr12:57082547-Alternative-C;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Reference A aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CGTTCAATTAGG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcgttcaattaggAGATCGAGACCCGACGC chr12:57082547-Reference-A;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative C aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CTCACGTAACAC CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAActcacgtaacacAGATCGAGACCCGACGC chr12:57082547-Alternative-C;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Variant G aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CGTGCAGCTTCT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcgtgcagcttctAGATCGAGACCCGACGC chr12:57082547-Variant-G;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Variant G aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca ACCTCAACGCCA CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAacctcaacgccaAGATCGAGACCCGACGC chr12:57082547-Variant-G;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Reference A aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca AATACTTAGCGG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAaatacttagcggAGATCGAGACCCGACGC chr12:57082547-Reference-A;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative T aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca GCGAACTAACGG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAgcgaactaacggAGATCGAGACCCGACGC chr12:57082547-Alternative-T;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative C aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca GGTCGTTACAAT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAggtcgttacaatAGATCGAGACCCGACGC chr12:57082547-Alternative-C;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Variant G aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CTCTACGAACTT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAActctacgaacttAGATCGAGACCCGACGC chr12:57082547-Variant-G;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative C aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CGAGCAAGTGAA CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaCgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcgagcaagtgaaAGATCGAGACCCGACGC chr12:57082547-Alternative-C;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Variant G aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CTGTTCCGTGGT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAActgttccgtggtAGATCGAGACCCGACGC chr12:57082547-Variant-G;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Variant G aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca ACATAGGCTGCG CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaGgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAacataggctgcgAGATCGAGACCCGACGC chr12:57082547-Variant-G;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative T aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca CAGATTAGGCTT CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAcagattaggcttAGATCGAGACCCGACGC chr12:57082547-Alternative-T;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Reference A aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca GCCAAGATTCTA CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaAgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAgccaagattctaAGATCGAGACCCGACGC chr12:57082547-Reference-A;Patient-100 chr12:57082547-AG DeNovo Patient-100 intergenic NA 3.91e-05 0.52 9.59 -0.49 PRIM1 63598 Alternative T aaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtcca GATGTACTACAC CGACGCGGTCTCTCTCTaaaaacctgtaaaaagcctgtgctgtggaaaagggctcacttcagaatcaTgggcctgggtccacctcgccatttttctgaaggttggaggctctgtccaAGAGGGAGACGGACGTCTCAATAAgatgtactacacAGATCGAGACCCGACGC chr12:57082547-Alternative-T;Patient-100 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Variant G cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa GCGTTGGACCTA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAgcgttggacctaAGATCGAGACCCGACGC chr12:57180655-Variant-G;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Variant G cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa AGCTGCCAATAT CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAagctgccaatatAGATCGAGACCCGACGC chr12:57180655-Variant-G;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Reference C cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa AGGTACAGACGT CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAaggtacagacgtAGATCGAGACCCGACGC chr12:57180655-Reference-C;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative A cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa ACCAACCGATAC CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAaccaaccgatacAGATCGAGACCCGACGC chr12:57180655-Alternative-A;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Reference C cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa AGCGGCATTGTC CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAagcggcattgtcAGATCGAGACCCGACGC chr12:57180655-Reference-C;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Variant G cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CTTATGCGCAAT CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAActtatgcgcaatAGATCGAGACCCGACGC chr12:57180655-Variant-G;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Reference C cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CGTGTTCTATCA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAcgtgttctatcaAGATCGAGACCCGACGC chr12:57180655-Reference-C;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative T cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CAGTAGATGCGC CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAcagtagatgcgcAGATCGAGACCCGACGC chr12:57180655-Alternative-T;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Reference C cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa GCCGCGTAGTAA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAgccgcgtagtaaAGATCGAGACCCGACGC chr12:57180655-Reference-C;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative T cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa ACGAAGACCTGG CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAacgaagacctggAGATCGAGACCCGACGC chr12:57180655-Alternative-T;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Variant G cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa GACTATCGACTA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAgactatcgactaAGATCGAGACCCGACGC chr12:57180655-Variant-G;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Reference C cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa AGACGCATTGAA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacCaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAagacgcattgaaAGATCGAGACCCGACGC chr12:57180655-Reference-C;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative T cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CTAGTTGTGAAC CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAActagttgtgaacAGATCGAGACCCGACGC chr12:57180655-Alternative-T;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Variant G cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CTTGTTCCGACG CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacGaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAActtgttccgacgAGATCGAGACCCGACGC chr12:57180655-Variant-G;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative T cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa AGCGTATTGCAC CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAagcgtattgcacAGATCGAGACCCGACGC chr12:57180655-Alternative-T;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative T cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa GTGTTCCGACAG CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacTaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAgtgttccgacagAGATCGAGACCCGACGC chr12:57180655-Alternative-T;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative A cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CGACATAGTTCT CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAcgacatagttctAGATCGAGACCCGACGC chr12:57180655-Alternative-A;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative A cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CGACTTGAACAG CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAcgacttgaacagAGATCGAGACCCGACGC chr12:57180655-Alternative-A;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative A cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa GGCTCGTTGACA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAggctcgttgacaAGATCGAGACCCGACGC chr12:57180655-Alternative-A;Patient-91 chr12:57180655-CG Inherited Patient-91 intronic HSD17B6 9.8e-05 0.000148471 -0.21 0.67 -0.3 HSD17B6 23546 Alternative A cctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaa CAAGAGTCATGA CGACGCGGTCTCTCTCTcctgggtgacagagcaagaccctgtctcaaaagaaaccccaaaaaacaacAaaacaaaaaaagaaaaatgattgagttttaaaattaaaattaaataaaaAGAGGGAGACGGACGTCTCAATAAcaagagtcatgaAGATCGAGACCCGACGC chr12:57180655-Alternative-A;Patient-91 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Variant G tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GTCTATCGTGCA CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgtctatcgtgcaAGATCGAGACCCGACGC chr12:57193397-Variant-G;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative C tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctca ATCGCTTATCGT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAatcgcttatcgtAGATCGAGACCCGACGC chr12:57193397-Alternative-C;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Reference A tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctca ACGGCATACGAG CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAacggcatacgagAGATCGAGACCCGACGC chr12:57193397-Reference-A;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative C tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctca AGTTCGCGTCAC CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAagttcgcgtcacAGATCGAGACCCGACGC chr12:57193397-Alternative-C;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative T tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctca ACCACAGGACAT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAaccacaggacatAGATCGAGACCCGACGC chr12:57193397-Alternative-T;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative C tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctca CGATCACAAGCG CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAcgatcacaagcgAGATCGAGACCCGACGC chr12:57193397-Alternative-C;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative C tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GCGAACGTACGT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgcgaacgtacgtAGATCGAGACCCGACGC chr12:57193397-Alternative-C;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Reference A tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GATGTAAGAGCT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgatgtaagagctAGATCGAGACCCGACGC chr12:57193397-Reference-A;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative C tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GACGATTGCGAG CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccCaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgacgattgcgagAGATCGAGACCCGACGC chr12:57193397-Alternative-C;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative T tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctca CTCTACTCTATC CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAActctactctatcAGATCGAGACCCGACGC chr12:57193397-Alternative-T;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Reference A tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GCAGTATACGAA CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgcagtatacgaaAGATCGAGACCCGACGC chr12:57193397-Reference-A;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative T tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctca CAACACCGATGG CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAcaacaccgatggAGATCGAGACCCGACGC chr12:57193397-Alternative-T;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative T tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctca CAACCAACCTAA CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAcaaccaacctaaAGATCGAGACCCGACGC chr12:57193397-Alternative-T;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Reference A tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctca AATAAGTGCGGT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAaataagtgcggtAGATCGAGACCCGACGC chr12:57193397-Reference-A;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Alternative T tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GTTACCGACACG CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccTaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgttaccgacacgAGATCGAGACCCGACGC chr12:57193397-Alternative-T;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Reference A tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctca CGGCGTGATTCT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccAaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAcggcgtgattctAGATCGAGACCCGACGC chr12:57193397-Reference-A;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Variant G tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctca ACTTCACGGTAA CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAacttcacggtaaAGATCGAGACCCGACGC chr12:57193397-Variant-G;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Variant G tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GACTGGACTTAA CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgactggacttaaAGATCGAGACCCGACGC chr12:57193397-Variant-G;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Variant G tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctca GCCAGGTAGGAT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAgccaggtaggatAGATCGAGACCCGACGC chr12:57193397-Variant-G;Patient-54 chr12:57193397-AG DeNovo Patient-54 intergenic 3.2e-05 0.000513 0.15 5.03 0.16 HSD17B6 36288 Variant G tgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctca ATACCACCAAGT CGACGCGGTCTCTCTCTtgaagctggaaaccatcatcctcagcaaacaaacacaggaacagaaaaccGaacaccatatgttcttattcataagtgggagttgaacgacgagagctcaAGAGGGAGACGGACGTCTCAATAAataccaccaagtAGATCGAGACCCGACGC chr12:57193397-Variant-G;Patient-54 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Reference G gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ATCGTATCCGCG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAatcgtatccgcgAGATCGAGACCCGACGC chr12:57221140-Reference-G;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Reference G gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GAGGTGGATCCA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgaggtggatccaAGATCGAGACCCGACGC chr12:57221140-Reference-G;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Reference G gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt CGCCATTATAAG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAcgccattataagAGATCGAGACCCGACGC chr12:57221140-Reference-G;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Reference G gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ACTCACCGCTGA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAactcaccgctgaAGATCGAGACCCGACGC chr12:57221140-Reference-G;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Reference G gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt AATGGCTTACGT CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaGtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAaatggcttacgtAGATCGAGACCCGACGC chr12:57221140-Reference-G;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Variant T gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GTGAACCTTCGG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgtgaaccttcggAGATCGAGACCCGACGC chr12:57221140-Variant-T;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Variant T gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt AGGACCGATCCA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAaggaccgatccaAGATCGAGACCCGACGC chr12:57221140-Variant-T;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Variant T gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt CATCATACTGAC CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAcatcatactgacAGATCGAGACCCGACGC chr12:57221140-Variant-T;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Variant T gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GATAGGACGCAA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgataggacgcaaAGATCGAGACCCGACGC chr12:57221140-Variant-T;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Variant T gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GCGATTGTTAAG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaTtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgcgattgttaagAGATCGAGACCCGACGC chr12:57221140-Variant-T;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative A gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ATTCTGAGATGC CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAattctgagatgcAGATCGAGACCCGACGC chr12:57221140-Alternative-A;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative C gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GAGCAGTAGTCG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgagcagtagtcgAGATCGAGACCCGACGC chr12:57221140-Alternative-C;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative A gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ATCGACCGCGAT CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAatcgaccgcgatAGATCGAGACCCGACGC chr12:57221140-Alternative-A;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative A gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ATTCTGTTCGCA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAattctgttcgcaAGATCGAGACCCGACGC chr12:57221140-Alternative-A;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative A gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt GTTCGTAGCGTC CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAgttcgtagcgtcAGATCGAGACCCGACGC chr12:57221140-Alternative-A;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative A gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt CGAATCCGAACG CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaAtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAcgaatccgaacgAGATCGAGACCCGACGC chr12:57221140-Alternative-A;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative C gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ACATGACCAAGA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAacatgaccaagaAGATCGAGACCCGACGC chr12:57221140-Alternative-C;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative C gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt AGTAATCTCGAC CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAagtaatctcgacAGATCGAGACCCGACGC chr12:57221140-Alternative-C;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative C gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt ACGATAGTGTTC CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAAacgatagtgttcAGATCGAGACCCGACGC chr12:57221140-Alternative-C;Patient-55 chr12:57221140-GT Inherited Patient-55 intergenic 3.6e-05 0.000513 -0.1 1.45 0 HSD17B6 64031 Alternative C gcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggt CTCTGGTAATGA CGACGCGGTCTCTCTCTgcttgtctttccttttttttttttttttttttgataaagtgagagaaacaCtgtgtttgtgtgctgatgggctggcctgagtagaaaaggggaatgaggtAGAGGGAGACGGACGTCTCAATAActctggtaatgaAGATCGAGACCCGACGC chr12:57221140-Alternative-C;Patient-55 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Variant G atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttgggga ACGCCATTAAGG CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAacgccattaaggAGATCGAGACCCGACGC chr12:57401467-Variant-G;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Variant G atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttgggga CATCGCGAACGA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAcatcgcgaacgaAGATCGAGACCCGACGC chr12:57401467-Variant-G;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Reference T atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GAATGCGCTAAC CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgaatgcgctaacAGATCGAGACCCGACGC chr12:57401467-Reference-T;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Variant G atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GGCTATATTCGT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAggctatattcgtAGATCGAGACCCGACGC chr12:57401467-Variant-G;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Reference T atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GTTCAAGACCTA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgttcaagacctaAGATCGAGACCCGACGC chr12:57401467-Reference-T;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Variant G atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttgggga ATTCCTGGTCAT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAattcctggtcatAGATCGAGACCCGACGC chr12:57401467-Variant-G;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Reference T atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttgggga AGCTCTAGTATC CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAagctctagtatcAGATCGAGACCCGACGC chr12:57401467-Reference-T;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Reference T atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttgggga ACACCGATTCAT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAacaccgattcatAGATCGAGACCCGACGC chr12:57401467-Reference-T;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative A atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttgggga AGTACGTCTAGT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAagtacgtctagtAGATCGAGACCCGACGC chr12:57401467-Alternative-A;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Variant G atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GTACGCGCGTAA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtGagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgtacgcgcgtaaAGATCGAGACCCGACGC chr12:57401467-Variant-G;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative C atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttgggga AGCATTCGTAAC CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAagcattcgtaacAGATCGAGACCCGACGC chr12:57401467-Alternative-C;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Reference T atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GCAGTGTAACTT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtTagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgcagtgtaacttAGATCGAGACCCGACGC chr12:57401467-Reference-T;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative A atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttgggga AGACGGTCGTCT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAagacggtcgtctAGATCGAGACCCGACGC chr12:57401467-Alternative-A;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative C atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttgggga CTTATGTAGTGG CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAActtatgtagtggAGATCGAGACCCGACGC chr12:57401467-Alternative-C;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative C atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttgggga CGTGGTGTGGTT CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAcgtggtgtggttAGATCGAGACCCGACGC chr12:57401467-Alternative-C;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative A atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GTAGCGGTGTAC CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgtagcggtgtacAGATCGAGACCCGACGC chr12:57401467-Alternative-A;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative A atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GTACACTCGTAA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgtacactcgtaaAGATCGAGACCCGACGC chr12:57401467-Alternative-A;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative C atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttgggga GTATCCTTGGAA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAgtatccttggaaAGATCGAGACCCGACGC chr12:57401467-Alternative-C;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative A atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttgggga ACGAAGACGCGA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtAagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAAacgaagacgcgaAGATCGAGACCCGACGC chr12:57401467-Alternative-A;Patient-54 chr12:57401467-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.51 -0.19 TAC3 8876 Alternative C atactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttgggga CTTGATGTTCCA CGACGCGGTCTCTCTCTatactgaaagcaagcactataccaaatgctgccaaacatgtaacatttgtCagccaggagatacaaaaacagccatagaactgttcttatagtttggggaAGAGGGAGACGGACGTCTCAATAActtgatgttccaAGATCGAGACCCGACGC chr12:57401467-Alternative-C;Patient-54 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Reference G gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc ACTAACGGCGAG CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAactaacggcgagAGATCGAGACCCGACGC chr12:57443623-Reference-G;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Reference G gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc ATTAACGTGGAG CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAattaacgtggagAGATCGAGACCCGACGC chr12:57443623-Reference-G;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Reference G gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GCCGTCTAAGGT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgccgtctaaggtAGATCGAGACCCGACGC chr12:57443623-Reference-G;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Reference G gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GCGGTCAACTTC CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgcggtcaacttcAGATCGAGACCCGACGC chr12:57443623-Reference-G;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative T gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc CAGTCGACGACT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAcagtcgacgactAGATCGAGACCCGACGC chr12:57443623-Alternative-T;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Variant A gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc CTGCTTGTCTGG CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAActgcttgtctggAGATCGAGACCCGACGC chr12:57443623-Variant-A;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative C gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc AGACTAAGACGC CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAagactaagacgcAGATCGAGACCCGACGC chr12:57443623-Alternative-C;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative C gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GGCTCTCTGACT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAggctctctgactAGATCGAGACCCGACGC chr12:57443623-Alternative-C;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative T gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GATAGCGAATCA CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgatagcgaatcaAGATCGAGACCCGACGC chr12:57443623-Alternative-T;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative C gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc ACTAACGGCCGT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAactaacggccgtAGATCGAGACCCGACGC chr12:57443623-Alternative-C;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative T gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc AACTTGCTCGTT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAaacttgctcgttAGATCGAGACCCGACGC chr12:57443623-Alternative-T;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative C gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GATTGAATCGCG CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgattgaatcgcgAGATCGAGACCCGACGC chr12:57443623-Alternative-C;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Reference G gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GATCCACGATAT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcGccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgatccacgatatAGATCGAGACCCGACGC chr12:57443623-Reference-G;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Variant A gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc ACATGAGTGTTC CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAacatgagtgttcAGATCGAGACCCGACGC chr12:57443623-Variant-A;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative C gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc CGATTACAAGCT CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcCccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAcgattacaagctAGATCGAGACCCGACGC chr12:57443623-Alternative-C;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Variant A gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc AGCTTCCGCCTA CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAagcttccgcctaAGATCGAGACCCGACGC chr12:57443623-Variant-A;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Variant A gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc AACAGGACGCGA CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAaacaggacgcgaAGATCGAGACCCGACGC chr12:57443623-Variant-A;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Variant A gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc ACGATCGTCCGA CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcAccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAacgatcgtccgaAGATCGAGACCCGACGC chr12:57443623-Variant-A;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative T gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GACGTTAGCGAG CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgacgttagcgagAGATCGAGACCCGACGC chr12:57443623-Alternative-T;Patient-49 chr12:57443623-GA DeNovo Patient-49 intronic MYO1A 0.000446 0.000319 0.2 5.9 0.52 MYO1A 925 Alternative T gactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcaccc GACCAAGTTCCA CGACGCGGTCTCTCTCTgactggttgagggtggggaagggaaaaaggcaagaggccccagatggggcTccccaaggtgttaaagagaagcagtgacaggtcaaggcaggactcacccAGAGGGAGACGGACGTCTCAATAAgaccaagttccaAGATCGAGACCCGACGC chr12:57443623-Alternative-T;Patient-49 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative T aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AACCGATCCGGT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaaccgatccggtAGATCGAGACCCGACGC chr12:57522530-Alternative-T;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Reference G aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CAACATAACGTC CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAcaacataacgtcAGATCGAGACCCGACGC chr12:57522530-Reference-G;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Reference G aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AACCGTGACGAG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaaccgtgacgagAGATCGAGACCCGACGC chr12:57522530-Reference-G;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative T aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CGACGAGTATGG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAcgacgagtatggAGATCGAGACCCGACGC chr12:57522530-Alternative-T;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative T aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CATGCTGAAGCG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAcatgctgaagcgAGATCGAGACCCGACGC chr12:57522530-Alternative-T;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Reference G aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa GGTGCGCATCTT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAggtgcgcatcttAGATCGAGACCCGACGC chr12:57522530-Reference-G;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative T aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa GCGACGCCATTA CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAgcgacgccattaAGATCGAGACCCGACGC chr12:57522530-Alternative-T;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative T aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AACCACGGAACT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcTgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaaccacggaactAGATCGAGACCCGACGC chr12:57522530-Alternative-T;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Reference G aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa GCAGACTTCGAC CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAgcagacttcgacAGATCGAGACCCGACGC chr12:57522530-Reference-G;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Variant A aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AAGGTTCTGGCG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaaggttctggcgAGATCGAGACCCGACGC chr12:57522530-Variant-A;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Reference G aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa ACCTACTTCAGT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcGgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAacctacttcagtAGATCGAGACCCGACGC chr12:57522530-Reference-G;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Variant A aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CGTATGTATACG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAcgtatgtatacgAGATCGAGACCCGACGC chr12:57522530-Variant-A;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Variant A aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AACGGTCTGTGC CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaacggtctgtgcAGATCGAGACCCGACGC chr12:57522530-Variant-A;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Variant A aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CTAGGCTTAACA CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAActaggcttaacaAGATCGAGACCCGACGC chr12:57522530-Variant-A;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Variant A aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AGGTTCATACGT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcAgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAaggttcatacgtAGATCGAGACCCGACGC chr12:57522530-Variant-A;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative C aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CAGGAGAAGCGA CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAcaggagaagcgaAGATCGAGACCCGACGC chr12:57522530-Alternative-C;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative C aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa GAGTAGCCATAA CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAgagtagccataaAGATCGAGACCCGACGC chr12:57522530-Alternative-C;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative C aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa GGTCGCCTTGAA CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAggtcgccttgaaAGATCGAGACCCGACGC chr12:57522530-Alternative-C;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative C aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa CTATCGTTAGCT CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAActatcgttagctAGATCGAGACCCGACGC chr12:57522530-Alternative-C;Patient-99 chr12:57522530-GA DeNovo Patient-99 5 prime UTR LRP1 6.4e-05 0.000297 2.18 21.2 4.53 LRP1 247 Alternative C aagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaa AGCAACGCAACG CGACGCGGTCTCTCTCTaagagcagcgaggagtgaagcgggggggtggggtgaagggtttggatttcCgggcagggggcgcacccccgtcagcaggccctccccaaggggctcggaaAGAGGGAGACGGACGTCTCAATAAagcaacgcaacgAGATCGAGACCCGACGC chr12:57522530-Alternative-C;Patient-99 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Variant T ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GGAACCTTCTGG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAggaaccttctggAGATCGAGACCCGACGC chr12:57550827-Variant-T;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Variant T ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt CAGCTGGTCTGA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAcagctggtctgaAGATCGAGACCCGACGC chr12:57550827-Variant-T;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Variant T ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GTAGATTCATGC CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgtagattcatgcAGATCGAGACCCGACGC chr12:57550827-Variant-T;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Reference A ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt ATACGCGTTCGG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAatacgcgttcggAGATCGAGACCCGACGC chr12:57550827-Reference-A;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative C ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GTTGACACGTAA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgttgacacgtaaAGATCGAGACCCGACGC chr12:57550827-Alternative-C;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Reference A ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt AAGACGTCGGCA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAaagacgtcggcaAGATCGAGACCCGACGC chr12:57550827-Reference-A;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Variant T ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt ACTGTTAGATGG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAactgttagatggAGATCGAGACCCGACGC chr12:57550827-Variant-T;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Reference A ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt AACAGGCGTCAC CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAaacaggcgtcacAGATCGAGACCCGACGC chr12:57550827-Reference-A;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Variant T ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GTCATTCATTCG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtTcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgtcattcattcgAGATCGAGACCCGACGC chr12:57550827-Variant-T;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative C ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt ATCGTCCTAGCG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAatcgtcctagcgAGATCGAGACCCGACGC chr12:57550827-Alternative-C;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Reference A ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GACTAGTCTTCT CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgactagtcttctAGATCGAGACCCGACGC chr12:57550827-Reference-A;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Reference A ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt CGTGCTAAGCGA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtAcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAcgtgctaagcgaAGATCGAGACCCGACGC chr12:57550827-Reference-A;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative C ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GAAGTTACGTGC CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgaagttacgtgcAGATCGAGACCCGACGC chr12:57550827-Alternative-C;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative C ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GTACGGCGGTAA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgtacggcggtaaAGATCGAGACCCGACGC chr12:57550827-Alternative-C;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative C ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt CGGTGATATTGA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtCcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAcggtgatattgaAGATCGAGACCCGACGC chr12:57550827-Alternative-C;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative G ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GACAGTAACCGG CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAgacagtaaccggAGATCGAGACCCGACGC chr12:57550827-Alternative-G;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative G ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt GGTTGCTTCTAT CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAggttgcttctatAGATCGAGACCCGACGC chr12:57550827-Alternative-G;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative G ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt CGACTGGATTAT CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAcgactggattatAGATCGAGACCCGACGC chr12:57550827-Alternative-G;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative G ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt CATTCGCAATCA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAcattcgcaatcaAGATCGAGACCCGACGC chr12:57550827-Alternative-G;Patient-49 chr12:57550827-AT DeNovo Patient-49 intronic LRP1 NA 9.9e-05 -0.04 2.03 -0.01 LRP1 28544 Alternative G ggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagt ACGTTGGTAGAA CGACGCGGTCTCTCTCTggctgcctctgtctgacatgcagggagatgaaggaagtgtcccagagtgtGcctgctagtgagggcagagatgggacttgaatccatattcgaaaaaagtAGAGGGAGACGGACGTCTCAATAAacgttggtagaaAGATCGAGACCCGACGC chr12:57550827-Alternative-G;Patient-49 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative G caactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GTGTTAGAGAGT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAgtgttagagagtAGATCGAGACCCGACGC chr12:57804098-Alternative-G;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Variant A caactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta ATTATCCGCGTT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAattatccgcgttAGATCGAGACCCGACGC chr12:57804098-Variant-A;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative T caactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GGTCACGGACTA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAggtcacggactaAGATCGAGACCCGACGC chr12:57804098-Alternative-T;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative T caactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta AGTTGGTTGCGG CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAagttggttgcggAGATCGAGACCCGACGC chr12:57804098-Alternative-T;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Variant A caactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CAGCTGAACGTC CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAcagctgaacgtcAGATCGAGACCCGACGC chr12:57804098-Variant-A;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Variant A caactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta ACAAGTTACCGT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAacaagttaccgtAGATCGAGACCCGACGC chr12:57804098-Variant-A;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative T caactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CTCGCCATGCTT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAActcgccatgcttAGATCGAGACCCGACGC chr12:57804098-Alternative-T;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative G caactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CGGATGGAATCA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAcggatggaatcaAGATCGAGACCCGACGC chr12:57804098-Alternative-G;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Variant A caactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GTCGTTCGTCGT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAgtcgttcgtcgtAGATCGAGACCCGACGC chr12:57804098-Variant-A;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative G caactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CTACGAATTGGT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAActacgaattggtAGATCGAGACCCGACGC chr12:57804098-Alternative-G;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Variant A caactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CTCTAAGGCGCA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaActtaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAActctaaggcgcaAGATCGAGACCCGACGC chr12:57804098-Variant-A;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Reference C caactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GCCTTACCTGAA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAgccttacctgaaAGATCGAGACCCGACGC chr12:57804098-Reference-C;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative G caactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GCAGTTATTACG CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAgcagttattacgAGATCGAGACCCGACGC chr12:57804098-Alternative-G;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative T caactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta ATCGCAAGGCCA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAatcgcaaggccaAGATCGAGACCCGACGC chr12:57804098-Alternative-T;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Reference C caactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta AAGGTAGTTCGA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAaaggtagttcgaAGATCGAGACCCGACGC chr12:57804098-Reference-C;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Reference C caactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta ACGCGGTTCCAT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAacgcggttccatAGATCGAGACCCGACGC chr12:57804098-Reference-C;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Reference C caactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GGAGGACTTGCA CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAggaggacttgcaAGATCGAGACCCGACGC chr12:57804098-Reference-C;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative T caactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta GTCGGCTGTCTT CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaTcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAgtcggctgtcttAGATCGAGACCCGACGC chr12:57804098-Alternative-T;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Alternative G caactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CACTTCGAACGG CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaGcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAcacttcgaacggAGATCGAGACCCGACGC chr12:57804098-Alternative-G;Patient-88 chr12:57804098-CA DeNovo Patient-88 intergenic NA 6.28e-05 -0.03 2.25 1.19 INHBC 24444 Reference C caactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagcta CGTTGTATTGTC CGACGCGGTCTCTCTCTcaactattaatacatcaatagatcttcacattaccagggaggtagtataaCcttaaaaaaaaaaaaaaaaaaaaaaaacttcacatttcatgaacagctaAGAGGGAGACGGACGTCTCAATAAcgttgtattgtcAGATCGAGACCCGACGC chr12:57804098-Reference-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative C gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatag ACGACGGTAGCA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAacgacggtagcaAGATCGAGACCCGACGC chr12:57891075-Alternative-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Reference A gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatag CGAAGGATACAG CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAcgaaggatacagAGATCGAGACCCGACGC chr12:57891075-Reference-A;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative C gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatag CACGCCGTACTA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAcacgccgtactaAGATCGAGACCCGACGC chr12:57891075-Alternative-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative C gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AGATCCATAGCG CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAagatccatagcgAGATCGAGACCCGACGC chr12:57891075-Alternative-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Reference A gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatag CTCTATCGTAGT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAActctatcgtagtAGATCGAGACCCGACGC chr12:57891075-Reference-A;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Variant G gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatag ATACGCCGAACG CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAatacgccgaacgAGATCGAGACCCGACGC chr12:57891075-Variant-G;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Variant G gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatag GTTCATTACAGG CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAgttcattacaggAGATCGAGACCCGACGC chr12:57891075-Variant-G;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative C gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatag ATTCGCCTGTGC CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAattcgcctgtgcAGATCGAGACCCGACGC chr12:57891075-Alternative-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative T gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AGAACCGTGATA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAagaaccgtgataAGATCGAGACCCGACGC chr12:57891075-Alternative-T;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative T gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatag ATCGTCTATCGT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAatcgtctatcgtAGATCGAGACCCGACGC chr12:57891075-Alternative-T;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative T gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatag CGACTAGGCTGT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAcgactaggctgtAGATCGAGACCCGACGC chr12:57891075-Alternative-T;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative T gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatag GGCTTGCTTCGT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAggcttgcttcgtAGATCGAGACCCGACGC chr12:57891075-Alternative-T;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Variant G gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatag CTCATGCGCCTA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAActcatgcgcctaAGATCGAGACCCGACGC chr12:57891075-Variant-G;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Variant G gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AATGCGATTGAC CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAaatgcgattgacAGATCGAGACCCGACGC chr12:57891075-Variant-G;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative C gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatag ACTTCTTGACCA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatCagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAacttcttgaccaAGATCGAGACCCGACGC chr12:57891075-Alternative-C;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Reference A gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AGCATCGCGTTC CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAagcatcgcgttcAGATCGAGACCCGACGC chr12:57891075-Reference-A;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Reference A gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatag GCGCATTGACAT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAgcgcattgacatAGATCGAGACCCGACGC chr12:57891075-Reference-A;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Alternative T gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AGTGTCTCTTGT CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatTagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAagtgtctcttgtAGATCGAGACCCGACGC chr12:57891075-Alternative-T;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Reference A gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatag GGAACGAGATAC CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatAagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAggaacgagatacAGATCGAGACCCGACGC chr12:57891075-Reference-A;Patient-88 chr12:57891075-AG DeNovo Patient-88 intronic MARS 0.000446 9.9e-05 0 2.56 -5.11 MARS 9338 Variant G gaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatag AGTCGGATGTAA CGACGCGGTCTCTCTCTgaaagggtgatggatgcacaagaaattagtgagatgcgttttatggaaatGagctgtaaatgttctaggaagtagttgggccatctattgggatatatagAGAGGGAGACGGACGTCTCAATAAagtcggatgtaaAGATCGAGACCCGACGC chr12:57891075-Variant-G;Patient-88 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Reference G cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CTCTGATGGTGG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAActctgatggtggAGATCGAGACCCGACGC chr12:57933219-Reference-G;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Variant T cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CTCTGGCTAGTC CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAActctggctagtcAGATCGAGACCCGACGC chr12:57933219-Variant-T;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Variant T cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt ATCCGAGTATGG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAatccgagtatggAGATCGAGACCCGACGC chr12:57933219-Variant-T;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Variant T cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CGAGTAATAGGT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAcgagtaataggtAGATCGAGACCCGACGC chr12:57933219-Variant-T;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Variant T cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt AAGTGGCTAGCG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAaagtggctagcgAGATCGAGACCCGACGC chr12:57933219-Variant-T;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Reference G cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GATCATAGCGGC CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgatcatagcggcAGATCGAGACCCGACGC chr12:57933219-Reference-G;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Variant T cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt ATCGTCCTACCA CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagTgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAatcgtcctaccaAGATCGAGACCCGACGC chr12:57933219-Variant-T;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Reference G cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GATACGCCTACG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgatacgcctacgAGATCGAGACCCGACGC chr12:57933219-Reference-G;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Reference G cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GTAACATGTCGT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgtaacatgtcgtAGATCGAGACCCGACGC chr12:57933219-Reference-G;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Reference G cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CGCGTGTGTTCT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagGgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAcgcgtgtgttctAGATCGAGACCCGACGC chr12:57933219-Reference-G;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative A cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GTACGGCATAAT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgtacggcataatAGATCGAGACCCGACGC chr12:57933219-Alternative-A;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative C cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CAGGTGATATGA CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAcaggtgatatgaAGATCGAGACCCGACGC chr12:57933219-Alternative-C;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative A cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CGTTACGTGCGT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAcgttacgtgcgtAGATCGAGACCCGACGC chr12:57933219-Alternative-A;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative C cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt AACGTAAGGCCG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAaacgtaaggccgAGATCGAGACCCGACGC chr12:57933219-Alternative-C;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative C cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GGAACTCCGATA CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAggaactccgataAGATCGAGACCCGACGC chr12:57933219-Alternative-C;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative A cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GGTGTTAAGAAG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAggtgttaagaagAGATCGAGACCCGACGC chr12:57933219-Alternative-A;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative A cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GTATCGTGTGCG CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgtatcgtgtgcgAGATCGAGACCCGACGC chr12:57933219-Alternative-A;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative A cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt GATGTCTGTGAT CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagAgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAgatgtctgtgatAGATCGAGACCCGACGC chr12:57933219-Alternative-A;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative C cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt CTTACAACACAC CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAActtacaacacacAGATCGAGACCCGACGC chr12:57933219-Alternative-C;Patient-66 chr12:57933219-GT DeNovo Patient-66 intronic DCTN2 NA 4.95e-05 0.22 6.13 -3.68 DCTN2 7894 Alternative C cagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagt AACGCTAGGATA CGACGCGGTCTCTCTCTcagaacatgtttcttcaaccctctgttcacaagattcacaggggttggagCgtaaacaaaggggaagggtgagagtatttccaagaggccttatttgagtAGAGGGAGACGGACGTCTCAATAAaacgctaggataAGATCGAGACCCGACGC chr12:57933219-Alternative-C;Patient-66 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative G atatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt CACAATAGACGA CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAcacaatagacgaAGATCGAGACCCGACGC chr12:64155138-Alternative-G;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative G atatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AGAAGTTGACGT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAagaagttgacgtAGATCGAGACCCGACGC chr12:64155138-Alternative-G;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative G atatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt GCCGTGGTATGT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAgccgtggtatgtAGATCGAGACCCGACGC chr12:64155138-Alternative-G;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Variant C atatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt ATCCGTATCACG CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAatccgtatcacgAGATCGAGACCCGACGC chr12:64155138-Variant-C;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative G atatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt GGCGTACTCTAC CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAggcgtactctacAGATCGAGACCCGACGC chr12:64155138-Alternative-G;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative A atatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt CGATGCTCCGTT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAcgatgctccgttAGATCGAGACCCGACGC chr12:64155138-Alternative-A;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative A atatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt GGTATTCGACCG CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAggtattcgaccgAGATCGAGACCCGACGC chr12:64155138-Alternative-A;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative A atatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AAGACGGTTGTT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAaagacggttgttAGATCGAGACCCGACGC chr12:64155138-Alternative-A;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Variant C atatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AGATTGAGTGCT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAagattgagtgctAGATCGAGACCCGACGC chr12:64155138-Variant-C;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative A atatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt GTAGTCTTCGTT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAgtagtcttcgttAGATCGAGACCCGACGC chr12:64155138-Alternative-A;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Variant C atatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AGCCACGAACTA CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAagccacgaactaAGATCGAGACCCGACGC chr12:64155138-Variant-C;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Reference T atatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt ATCGATTGGCCG CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAatcgattggccgAGATCGAGACCCGACGC chr12:64155138-Reference-T;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative A atatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt CGTCGGTTACCT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatAatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAcgtcggttacctAGATCGAGACCCGACGC chr12:64155138-Alternative-A;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Alternative G atatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt ACATCTGCATGA CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatGatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAacatctgcatgaAGATCGAGACCCGACGC chr12:64155138-Alternative-G;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Variant C atatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt CAGCTAACAAGT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAcagctaacaagtAGATCGAGACCCGACGC chr12:64155138-Variant-C;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Reference T atatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt ACTGGTTATGGT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAactggttatggtAGATCGAGACCCGACGC chr12:64155138-Reference-T;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Reference T atatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AGATTGTGCTGT CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAagattgtgctgtAGATCGAGACCCGACGC chr12:64155138-Reference-T;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Variant C atatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt CAGACGGTTGAG CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatCatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAcagacggttgagAGATCGAGACCCGACGC chr12:64155138-Variant-C;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Reference T atatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt AGGTTCTGTCAA CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAaggttctgtcaaAGATCGAGACCCGACGC chr12:64155138-Reference-T;Patient-65 chr12:64155138-TC Inherited Patient-65 intergenic NA 0.000513 0.05 3.44 0.81 RXYLT1 18444 Reference T atatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagttt ATTGCGACGTCG CGACGCGGTCTCTCTCTatatatatatatgttacacaaatgtatatagagggtgatcattggggaatTatgggtgttgatttgggaggctatttttggagtgcagatctatgagtttAGAGGGAGACGGACGTCTCAATAAattgcgacgtcgAGATCGAGACCCGACGC chr12:64155138-Reference-T;Patient-65 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative T gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GGAGGAATGACT CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAggaggaatgactAGATCGAGACCCGACGC chr12:65166931-Alternative-T;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative T gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag CGTTGTACGCGT CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAcgttgtacgcgtAGATCGAGACCCGACGC chr12:65166931-Alternative-T;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative T gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GGACGAATATGG CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAggacgaatatggAGATCGAGACCCGACGC chr12:65166931-Alternative-T;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Reference G gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag ACGCGATTAAGA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAacgcgattaagaAGATCGAGACCCGACGC chr12:65166931-Reference-G;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Variant A gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTTCACCGCGTT CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgttcaccgcgttAGATCGAGACCCGACGC chr12:65166931-Variant-A;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative T gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTCGCAATGTAA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgtcgcaatgtaaAGATCGAGACCCGACGC chr12:65166931-Alternative-T;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Reference G gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTTCGCTAGCGT CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgttcgctagcgtAGATCGAGACCCGACGC chr12:65166931-Reference-G;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Variant A gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag AACGTAGTCCGG CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAaacgtagtccggAGATCGAGACCCGACGC chr12:65166931-Variant-A;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Variant A gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTCGAGCGCATT CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgtcgagcgcattAGATCGAGACCCGACGC chr12:65166931-Variant-A;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Variant A gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag ACTGTGCGTCCA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAactgtgcgtccaAGATCGAGACCCGACGC chr12:65166931-Variant-A;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Reference G gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTGTTATGGCTA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgtgttatggctaAGATCGAGACCCGACGC chr12:65166931-Reference-G;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Variant A gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GCACCTACCATC CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttAgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgcacctaccatcAGATCGAGACCCGACGC chr12:65166931-Variant-A;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative T gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag AACGATGCATGA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttTgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAaacgatgcatgaAGATCGAGACCCGACGC chr12:65166931-Alternative-T;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative C gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GTTACGCTTCTA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAgttacgcttctaAGATCGAGACCCGACGC chr12:65166931-Alternative-C;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Reference G gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag CGATAGACGATA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAcgatagacgataAGATCGAGACCCGACGC chr12:65166931-Reference-G;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative C gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag GGCCATAACAGG CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAggccataacaggAGATCGAGACCCGACGC chr12:65166931-Alternative-C;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Reference G gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag AGAATCGGTAAG CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttGgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAagaatcggtaagAGATCGAGACCCGACGC chr12:65166931-Reference-G;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative C gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag ATAGCCGAAGCA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAatagccgaagcaAGATCGAGACCCGACGC chr12:65166931-Alternative-C;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative C gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag AGCGTCTTGGCA CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAagcgtcttggcaAGATCGAGACCCGACGC chr12:65166931-Alternative-C;Patient-108 chr12:65166931-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.16 0.91 -0.32 GNS 13704 Alternative C gctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacag AACTTGAATCGC CGACGCGGTCTCTCTCTgctgcatctttgctgtttgcaaaactcagccattctaccctgtgggctttCgagagtccaaaccaactgagggtggaagggatcccccagcacagcacagAGAGGGAGACGGACGTCTCAATAAaacttgaatcgcAGATCGAGACCCGACGC chr12:65166931-Alternative-C;Patient-108 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative G tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GAGTGTTGCGTC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgagtgttgcgtcAGATCGAGACCCGACGC chr12:6524927-Alternative-G;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative G tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CGGAACGTGGTT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcggaacgtggttAGATCGAGACCCGACGC chr12:6524927-Alternative-G;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Variant T tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CTCAATCGTAAG CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAActcaatcgtaagAGATCGAGACCCGACGC chr12:6524927-Variant-T;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative G tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CGACTAACGCAA CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcgactaacgcaaAGATCGAGACCCGACGC chr12:6524927-Alternative-G;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Variant T tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataat AATCGATACCGC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAaatcgataccgcAGATCGAGACCCGACGC chr12:6524927-Variant-T;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative A tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataat AGCAGCACACCT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAagcagcacacctAGATCGAGACCCGACGC chr12:6524927-Alternative-A;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative A tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataat AGTACACTTCGA CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAagtacacttcgaAGATCGAGACCCGACGC chr12:6524927-Alternative-A;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Variant T tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CATATATGCGAC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcatatatgcgacAGATCGAGACCCGACGC chr12:6524927-Variant-T;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative G tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GCCGAACCGATA CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgccgaaccgataAGATCGAGACCCGACGC chr12:6524927-Alternative-G;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Reference C tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CGACTAAGTCAT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcgactaagtcatAGATCGAGACCCGACGC chr12:6524927-Reference-C;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Reference C tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CAGTACGACGCT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcagtacgacgctAGATCGAGACCCGACGC chr12:6524927-Reference-C;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative A tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataat ATCATAGCTGAC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAatcatagctgacAGATCGAGACCCGACGC chr12:6524927-Alternative-A;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative G tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CTACGCAGCAGT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaGaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAActacgcagcagtAGATCGAGACCCGACGC chr12:6524927-Alternative-G;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Reference C tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GCAGCGCTATAC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgcagcgctatacAGATCGAGACCCGACGC chr12:6524927-Reference-C;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Reference C tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GTTGACCTCGAC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgttgacctcgacAGATCGAGACCCGACGC chr12:6524927-Reference-C;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Reference C tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GATACGGTTGTT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaCaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgatacggttgttAGATCGAGACCCGACGC chr12:6524927-Reference-C;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative A tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataat ACGTTAGTGCGC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAacgttagtgcgcAGATCGAGACCCGACGC chr12:6524927-Alternative-A;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Variant T tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GTACTATACGCA CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgtactatacgcaAGATCGAGACCCGACGC chr12:6524927-Variant-T;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Alternative A tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataat GAAGATCGACAC CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaAaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAgaagatcgacacAGATCGAGACCCGACGC chr12:6524927-Alternative-A;Patient-21 chr12:6524927-CT Inherited Patient-21 intergenic 0.000669 0.00103 -0.02 2.37 0 CD27 29105 Variant T tggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataat CACTTCGGTCGT CGACGCGGTCTCTCTCTtggagtttacaatatacagttaaaactaatccaagtctgctttcaaataaTaccatactacttcacatgtagtgcaagtaccttataataacaaaataatAGAGGGAGACGGACGTCTCAATAAcacttcggtcgtAGATCGAGACCCGACGC chr12:6524927-Variant-T;Patient-21 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative G gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag AGAAGATCCAAC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAagaagatccaacAGATCGAGACCCGACGC chr12:6535769-Alternative-G;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative G gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag ACTGCTGTAACA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAactgctgtaacaAGATCGAGACCCGACGC chr12:6535769-Alternative-G;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative G gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag CACAGCGCATGA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAcacagcgcatgaAGATCGAGACCCGACGC chr12:6535769-Alternative-G;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative G gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GTGAATAGCGAT CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAgtgaatagcgatAGATCGAGACCCGACGC chr12:6535769-Alternative-G;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative G gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GCGCTAATATAC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaGaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAgcgctaatatacAGATCGAGACCCGACGC chr12:6535769-Alternative-G;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Reference C gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GGTTGCGTAATA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAggttgcgtaataAGATCGAGACCCGACGC chr12:6535769-Reference-C;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Reference C gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag CGGAAGGTGTTC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAcggaaggtgttcAGATCGAGACCCGACGC chr12:6535769-Reference-C;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Reference C gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GCGACATGTCGT CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAgcgacatgtcgtAGATCGAGACCCGACGC chr12:6535769-Reference-C;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Reference C gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GTAGTACTACAC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAgtagtactacacAGATCGAGACCCGACGC chr12:6535769-Reference-C;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Variant A gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag CAATTGCGTACA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAcaattgcgtacaAGATCGAGACCCGACGC chr12:6535769-Variant-A;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative T gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag AGTTGGATGAAC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAagttggatgaacAGATCGAGACCCGACGC chr12:6535769-Alternative-T;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative T gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GGTATTCGTCAA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAggtattcgtcaaAGATCGAGACCCGACGC chr12:6535769-Alternative-T;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Variant A gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag GCCTTGACGCTT CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAgccttgacgcttAGATCGAGACCCGACGC chr12:6535769-Variant-A;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Reference C gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag ACAACGTTCGAA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaCaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAacaacgttcgaaAGATCGAGACCCGACGC chr12:6535769-Reference-C;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Variant A gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag ACGCAGTCAGGT CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAacgcagtcaggtAGATCGAGACCCGACGC chr12:6535769-Variant-A;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Variant A gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag AACTAGGCCGAC CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAaactaggccgacAGATCGAGACCCGACGC chr12:6535769-Variant-A;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative T gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag CATAAGCGCGAA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAcataagcgcgaaAGATCGAGACCCGACGC chr12:6535769-Alternative-T;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative T gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag AATAGGCTAAGG CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAaataggctaaggAGATCGAGACCCGACGC chr12:6535769-Alternative-T;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Alternative T gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag ATAGTGGTAGCA CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaTaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAatagtggtagcaAGATCGAGACCCGACGC chr12:6535769-Alternative-T;Patient-24 chr12:6535769-CA Inherited Patient-24 intergenic 3.2e-05 0.000513 0.04 3.29 0.16 CD27 18263 Variant A gaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggag CAACTGTGTCTT CGACGCGGTCTCTCTCTgaccagcctggccaacacggcgaaaccccatctctactaaaaatacaaaaAaattaagcagggatgatggtgtgtgcctggggtcccagctacttgggagAGAGGGAGACGGACGTCTCAATAAcaactgtgtcttAGATCGAGACCCGACGC chr12:6535769-Variant-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative T cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CGACGATATCAT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcgacgatatcatAGATCGAGACCCGACGC chr12:6535775-Alternative-T;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Variant G cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CGTCGAATATAC CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcgtcgaatatacAGATCGAGACCCGACGC chr12:6535775-Variant-G;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative C cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CAGCGACGTGAA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcagcgacgtgaaAGATCGAGACCCGACGC chr12:6535775-Alternative-C;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative C cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag GTGTAGCTCGCA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAgtgtagctcgcaAGATCGAGACCCGACGC chr12:6535775-Alternative-C;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Variant G cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag ACCTCATACAGT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAacctcatacagtAGATCGAGACCCGACGC chr12:6535775-Variant-G;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative C cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag GTAACTCGTAGA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAgtaactcgtagaAGATCGAGACCCGACGC chr12:6535775-Alternative-C;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative C cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag GATACGCGGCTT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAgatacgcggcttAGATCGAGACCCGACGC chr12:6535775-Alternative-C;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Variant G cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CACGACTTAGGT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcacgacttaggtAGATCGAGACCCGACGC chr12:6535775-Variant-G;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative C cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CGGACCGATTCT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaCgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcggaccgattctAGATCGAGACCCGACGC chr12:6535775-Alternative-C;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Reference A cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CGTTGTGGATCG CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAcgttgtggatcgAGATCGAGACCCGACGC chr12:6535775-Reference-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative T cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag ACGCATAGTTGT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAacgcatagttgtAGATCGAGACCCGACGC chr12:6535775-Alternative-T;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative T cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag CTGTTAACCGGC CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAActgttaaccggcAGATCGAGACCCGACGC chr12:6535775-Alternative-T;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative T cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag ACTCGTTGTGAA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAactcgttgtgaaAGATCGAGACCCGACGC chr12:6535775-Alternative-T;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Alternative T cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag AGGTGTCTGGAG CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaTgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAaggtgtctggagAGATCGAGACCCGACGC chr12:6535775-Alternative-T;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Variant G cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag AGTATAGTAGCG CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAagtatagtagcgAGATCGAGACCCGACGC chr12:6535775-Variant-G;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Reference A cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag ACATCAGATTCG CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAacatcagattcgAGATCGAGACCCGACGC chr12:6535775-Reference-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Reference A cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag AATCTCGTGACA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAaatctcgtgacaAGATCGAGACCCGACGC chr12:6535775-Reference-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Reference A cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag AGGAGTAGGTGG CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAaggagtaggtggAGATCGAGACCCGACGC chr12:6535775-Reference-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Reference A cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag ACTTACCGCAGA CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaAgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAacttaccgcagaAGATCGAGACCCGACGC chr12:6535775-Reference-A;Patient-24 chr12:6535775-AG Inherited Patient-24 intergenic 3.2e-05 0.000512821 0.16 5.21 0.53 CD27 18257 Variant G cctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgag AGGAGTCACCTT CGACGCGGTCTCTCTCTcctggccaacacggcgaaaccccatctctactaaaaatacaaaacaattaGgcagggatgatggtgtgtgcctggggtcccagctacttgggaggctgagAGAGGGAGACGGACGTCTCAATAAaggagtcaccttAGATCGAGACCCGACGC chr12:6535775-Variant-G;Patient-24 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Variant A tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc ATACGGCGTTAT CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAatacggcgttatAGATCGAGACCCGACGC chr12:65559004-Variant-A;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Variant A tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GCATTCGTAACA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgcattcgtaacaAGATCGAGACCCGACGC chr12:65559004-Variant-A;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Variant A tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc ACCTGACCAATA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAacctgaccaataAGATCGAGACCCGACGC chr12:65559004-Variant-A;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative C tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GCCGTGTAGCTA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgccgtgtagctaAGATCGAGACCCGACGC chr12:65559004-Alternative-C;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Variant A tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CAGATACGTGAA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAcagatacgtgaaAGATCGAGACCCGACGC chr12:65559004-Variant-A;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative T tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CTCTTAGGACTT CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAActcttaggacttAGATCGAGACCCGACGC chr12:65559004-Alternative-T;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative T tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GAGTATCGGTGG CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgagtatcggtggAGATCGAGACCCGACGC chr12:65559004-Alternative-T;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative T tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CTCTCGGAATAA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAActctcggaataaAGATCGAGACCCGACGC chr12:65559004-Alternative-T;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative C tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CGTACGGTGTAC CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgtacggtgtacAGATCGAGACCCGACGC chr12:65559004-Alternative-C;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative T tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CAGTATAGCCTA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAcagtatagcctaAGATCGAGACCCGACGC chr12:65559004-Alternative-T;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Variant A tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CGCGTGAGAATC CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggAttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgcgtgagaatcAGATCGAGACCCGACGC chr12:65559004-Variant-A;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative C tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc ACCGAACCTTCG CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAaccgaaccttcgAGATCGAGACCCGACGC chr12:65559004-Alternative-C;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative C tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GTAATATGCGGT CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgtaatatgcggtAGATCGAGACCCGACGC chr12:65559004-Alternative-C;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative T tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GGAATTCCGTGA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggTttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAggaattccgtgaAGATCGAGACCCGACGC chr12:65559004-Alternative-T;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Reference G tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc CAACCACGATGG CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAcaaccacgatggAGATCGAGACCCGACGC chr12:65559004-Reference-G;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Alternative C tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GTTCTGCTAGTT CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggCttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgttctgctagttAGATCGAGACCCGACGC chr12:65559004-Alternative-C;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Reference G tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc ACATCTTACAGG CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAacatcttacaggAGATCGAGACCCGACGC chr12:65559004-Reference-G;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Reference G tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GATGCATGGTAA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgatgcatggtaaAGATCGAGACCCGACGC chr12:65559004-Reference-G;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Reference G tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GTGTATCTCAGA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgtgtatctcagaAGATCGAGACCCGACGC chr12:65559004-Reference-G;Patient-68 chr12:65559004-GA Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.1 1.4 0.23 LEMD3 4346 Reference G tgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggc GCGGAATCGTCA CGACGCGGTCTCTCTCTtgtcacccaggctggagtgcagtggtgcgacctcggctcatgcaacctggGttcaagcgattctcctgcctcagtcctccgagtagctgggattacaggcAGAGGGAGACGGACGTCTCAATAAgcggaatcgtcaAGATCGAGACCCGACGC chr12:65559004-Reference-G;Patient-68 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Variant T tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt ATTCGGTGTGAT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAattcggtgtgatAGATCGAGACCCGACGC chr12:65629958-Variant-T;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative G tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt AGGAACGTTGAT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAaggaacgttgatAGATCGAGACCCGACGC chr12:65629958-Alternative-G;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Reference C tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt ACGATGGAACAT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAacgatggaacatAGATCGAGACCCGACGC chr12:65629958-Reference-C;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Reference C tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GTGCGAAGTCAA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAgtgcgaagtcaaAGATCGAGACCCGACGC chr12:65629958-Reference-C;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Reference C tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CTCTGAACAAGT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAActctgaacaagtAGATCGAGACCCGACGC chr12:65629958-Reference-C;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative A tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CGGCTAAGCTGA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAcggctaagctgaAGATCGAGACCCGACGC chr12:65629958-Alternative-A;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Variant T tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt AGCGTTAGTGTT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAagcgttagtgttAGATCGAGACCCGACGC chr12:65629958-Variant-T;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative A tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CTAGTCTGGTAA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAActagtctggtaaAGATCGAGACCCGACGC chr12:65629958-Alternative-A;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative G tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GTCTAGATCGGC CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAgtctagatcggcAGATCGAGACCCGACGC chr12:65629958-Alternative-G;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative A tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GCATGACTGTCG CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAgcatgactgtcgAGATCGAGACCCGACGC chr12:65629958-Alternative-A;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative A tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt ATAACGGACTTC CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAataacggacttcAGATCGAGACCCGACGC chr12:65629958-Alternative-A;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative G tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CATCAGATCGAG CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAcatcagatcgagAGATCGAGACCCGACGC chr12:65629958-Alternative-G;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Reference C tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GGTTAGCCGTGA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAggttagccgtgaAGATCGAGACCCGACGC chr12:65629958-Reference-C;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Reference C tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GGACTCGGTATA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaCttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAggactcggtataAGATCGAGACCCGACGC chr12:65629958-Reference-C;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative A tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CGGCATTGAATT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaAttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAcggcattgaattAGATCGAGACCCGACGC chr12:65629958-Alternative-A;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Variant T tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt ATCTGCCATACT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAatctgccatactAGATCGAGACCCGACGC chr12:65629958-Variant-T;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative G tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt CGGCGTCAGATA CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAcggcgtcagataAGATCGAGACCCGACGC chr12:65629958-Alternative-G;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Variant T tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt AGACTATACCGT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAagactataccgtAGATCGAGACCCGACGC chr12:65629958-Variant-T;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Variant T tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GAGATCAGTTCT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaTttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAgagatcagttctAGATCGAGACCCGACGC chr12:65629958-Variant-T;Patient-73 chr12:65629958-CT DeNovo Patient-73 intronic LEMD3 NA 4.95e-05 0.02 2.87 0.47 LEMD3 66606 Alternative G tataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttatt GCAACTAGGCGT CGACGCGGTCTCTCTCTtataatttccaatgctgttgaagaatctgttgataaaatacaataggacaGttcttagaaaaatcttttttttagagagaatttgaaatgactttttattAGAGGGAGACGGACGTCTCAATAAgcaactaggcgtAGATCGAGACCCGACGC chr12:65629958-Alternative-G;Patient-73 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Variant A ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GTGAGGCATCTA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgtgaggcatctaAGATCGAGACCCGACGC chr12:65705182-Variant-A;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative C ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GACCATACGTTA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgaccatacgttaAGATCGAGACCCGACGC chr12:65705182-Alternative-C;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Variant A ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GTAGTGCGATAA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgtagtgcgataaAGATCGAGACCCGACGC chr12:65705182-Variant-A;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Variant A ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctg CTTAATGAGCCA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAActtaatgagccaAGATCGAGACCCGACGC chr12:65705182-Variant-A;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative C ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctg AAGCGCAACGCA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAaagcgcaacgcaAGATCGAGACCCGACGC chr12:65705182-Alternative-C;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative C ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctg ACAGATCCGCGT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAacagatccgcgtAGATCGAGACCCGACGC chr12:65705182-Alternative-C;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Variant A ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctg CTAGTGCGGACA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAActagtgcggacaAGATCGAGACCCGACGC chr12:65705182-Variant-A;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative C ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctg CTTGCTTCGTGG CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAActtgcttcgtggAGATCGAGACCCGACGC chr12:65705182-Alternative-C;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Variant A ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GCGCGACACATA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagAcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgcgcgacacataAGATCGAGACCCGACGC chr12:65705182-Variant-A;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative C ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctg CTATCTCACGGC CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagCcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAActatctcacggcAGATCGAGACCCGACGC chr12:65705182-Alternative-C;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Reference T ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GAGCTGTCTTAA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgagctgtcttaaAGATCGAGACCCGACGC chr12:65705182-Reference-T;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Reference T ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GACGTAGCCGAT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgacgtagccgatAGATCGAGACCCGACGC chr12:65705182-Reference-T;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative G ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctg AAGCGGCTTGCT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAaagcggcttgctAGATCGAGACCCGACGC chr12:65705182-Alternative-G;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative G ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GGCGGTTCTAGT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAggcggttctagtAGATCGAGACCCGACGC chr12:65705182-Alternative-G;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative G ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctg CAGGTGGAATCA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAcaggtggaatcaAGATCGAGACCCGACGC chr12:65705182-Alternative-G;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Reference T ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctg AGAGTGTAATCG CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAagagtgtaatcgAGATCGAGACCCGACGC chr12:65705182-Reference-T;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative G ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GAGGTTGATGAT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgaggttgatgatAGATCGAGACCCGACGC chr12:65705182-Alternative-G;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Alternative G ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctg AGATCGTCGCGA CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagGcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAagatcgtcgcgaAGATCGAGACCCGACGC chr12:65705182-Alternative-G;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Reference T ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GTCGCGATAGTC CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAgtcgcgatagtcAGATCGAGACCCGACGC chr12:65705182-Reference-T;Patient-59 chr12:65705182-TA Inherited Patient-59 intronic MSRB3 NA 0.000148 0.31 7.35 -1.41 MSRB3 32758 Reference T ataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctg GGAGTCGCAGAT CGACGCGGTCTCTCTCTataatttctcgaccattcaagcaccactagtttttaaagtgttatgaaagTcagtctttgggtgtctacatattttataacttggatttagcaaaatctgAGAGGGAGACGGACGTCTCAATAAggagtcgcagatAGATCGAGACCCGACGC chr12:65705182-Reference-T;Patient-59 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative T tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt GTCAATCCGGAG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAgtcaatccggagAGATCGAGACCCGACGC chr12:66148998-Alternative-T;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Reference G tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt CAGCGACTACCA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAcagcgactaccaAGATCGAGACCCGACGC chr12:66148998-Reference-G;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative T tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt ACATCGGTTCGG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAacatcggttcggAGATCGAGACCCGACGC chr12:66148998-Alternative-T;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative A tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AGCAACGCTTCG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAagcaacgcttcgAGATCGAGACCCGACGC chr12:66148998-Alternative-A;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative T tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AGCTACTGCCGT CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAagctactgccgtAGATCGAGACCCGACGC chr12:66148998-Alternative-T;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Reference G tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt ATTACGTCAACG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAattacgtcaacgAGATCGAGACCCGACGC chr12:66148998-Reference-G;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Variant C tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt ACTTCGATAGCA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAacttcgatagcaAGATCGAGACCCGACGC chr12:66148998-Variant-C;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Variant C tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AATAGGTAGTCG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAaataggtagtcgAGATCGAGACCCGACGC chr12:66148998-Variant-C;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative T tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AGCGTGTGATAA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAagcgtgtgataaAGATCGAGACCCGACGC chr12:66148998-Alternative-T;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative A tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt GATGGAGGTCGT CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAgatggaggtcgtAGATCGAGACCCGACGC chr12:66148998-Alternative-A;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative A tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt GCGGACGATTGA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAgcggacgattgaAGATCGAGACCCGACGC chr12:66148998-Alternative-A;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Variant C tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AACCGATTCGCG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAaaccgattcgcgAGATCGAGACCCGACGC chr12:66148998-Variant-C;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative T tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt CAAGTACGACCG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctTtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAcaagtacgaccgAGATCGAGACCCGACGC chr12:66148998-Alternative-T;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Variant C tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt CGGCGACTCATT CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAcggcgactcattAGATCGAGACCCGACGC chr12:66148998-Variant-C;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative A tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AAGGTTGCATGA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAaaggttgcatgaAGATCGAGACCCGACGC chr12:66148998-Alternative-A;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Alternative A tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt CAGTTACACCTT CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctAtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAcagttacaccttAGATCGAGACCCGACGC chr12:66148998-Alternative-A;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Variant C tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt ACGTGTGAAGAT CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctCtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAacgtgtgaagatAGATCGAGACCCGACGC chr12:66148998-Variant-C;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Reference G tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt CTAGGTATCAGG CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAActaggtatcaggAGATCGAGACCCGACGC chr12:66148998-Reference-G;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Reference G tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt GATGGTCATTGA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAgatggtcattgaAGATCGAGACCCGACGC chr12:66148998-Reference-G;Patient-4 chr12:66148998-GC DeNovo Patient-4 intergenic NA 0.000513 -0.04 2.11 -2.13 HMGA2 69241 Reference G tctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagtt AAGCGGTACATA CGACGCGGTCTCTCTCTtctggtcttatatgtcacctgatctttcaggttattctgtgcttgactctGtctcaccagaaaccccttgtttattctaagcagacagaaacccatagttAGAGGGAGACGGACGTCTCAATAAaagcggtacataAGATCGAGACCCGACGC chr12:66148998-Reference-G;Patient-4 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative G gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataa CGCGACGTCTAA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAcgcgacgtctaaAGATCGAGACCCGACGC chr12:67109154-Alternative-G;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative A gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GTCGAACGATAA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgtcgaacgataaAGATCGAGACCCGACGC chr12:67109154-Alternative-A;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative G gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GTGTAGCGGCTT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgtgtagcggcttAGATCGAGACCCGACGC chr12:67109154-Alternative-G;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative A gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GTGCTAAGGTAA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgtgctaaggtaaAGATCGAGACCCGACGC chr12:67109154-Alternative-A;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative A gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataa ACTGCGAACCTA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAactgcgaacctaAGATCGAGACCCGACGC chr12:67109154-Alternative-A;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Reference T gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GCCACGAAGATA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgccacgaagataAGATCGAGACCCGACGC chr12:67109154-Reference-T;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Reference T gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataa CATTAGTCATGG CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAcattagtcatggAGATCGAGACCCGACGC chr12:67109154-Reference-T;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Reference T gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataa CAGACGACGCAA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAcagacgacgcaaAGATCGAGACCCGACGC chr12:67109154-Reference-T;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Variant C gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataa AGTCGCAGTCGT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAagtcgcagtcgtAGATCGAGACCCGACGC chr12:67109154-Variant-C;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Variant C gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataa AGCTTATCTCGT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAagcttatctcgtAGATCGAGACCCGACGC chr12:67109154-Variant-C;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative G gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataa AGGTTACAGGCG CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAaggttacaggcgAGATCGAGACCCGACGC chr12:67109154-Alternative-G;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Variant C gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GATTCAATCGAC CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgattcaatcgacAGATCGAGACCCGACGC chr12:67109154-Variant-C;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative A gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataa ACTCGGATTCAA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAactcggattcaaAGATCGAGACCCGACGC chr12:67109154-Alternative-A;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Reference T gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GACGATCCTGGT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgacgatcctggtAGATCGAGACCCGACGC chr12:67109154-Reference-T;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Variant C gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataa ATCCGCGTTATT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAatccgcgttattAGATCGAGACCCGACGC chr12:67109154-Variant-C;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative A gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataa CAATAGCTTCGT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaAtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAcaatagcttcgtAGATCGAGACCCGACGC chr12:67109154-Alternative-A;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Variant C gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataa AAGACGGCTCCT CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaCtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAaagacggctcctAGATCGAGACCCGACGC chr12:67109154-Variant-C;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Reference T gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataa ACGCTTCTGTTA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaTtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAacgcttctgttaAGATCGAGACCCGACGC chr12:67109154-Reference-T;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative G gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataa GTATCCGTAAGA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAgtatccgtaagaAGATCGAGACCCGACGC chr12:67109154-Alternative-G;Patient-36 chr12:67109154-TC DeNovo Patient-36 intergenic 3.2e-05 6.28e-05 -0.36 0.24 -6.68 GRIP1 36228 Alternative G gctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataa AAGTAAGCCTGA CGACGCGGTCTCTCTCTgctcatgctgccctgtccctacaaccctgtgaggagaagttcctcacttaGtggatgaacaaattcctattttagccaccagatctgaacttaaggataaAGAGGGAGACGGACGTCTCAATAAaagtaagcctgaAGATCGAGACCCGACGC chr12:67109154-Alternative-G;Patient-36 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative G agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaaga CGGAGCAACCTA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcggagcaacctaAGATCGAGACCCGACGC chr12:6711731-Alternative-G;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative C agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaaga CGGATGATACTT CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcggatgatacttAGATCGAGACCCGACGC chr12:6711731-Alternative-C;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Reference A agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaaga AGCAGTCGAGGT CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAagcagtcgaggtAGATCGAGACCCGACGC chr12:6711731-Reference-A;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Variant T agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaaga AGGAACTCATTC CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAaggaactcattcAGATCGAGACCCGACGC chr12:6711731-Variant-T;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Reference A agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaaga CGGATTATATGG CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcggattatatggAGATCGAGACCCGACGC chr12:6711731-Reference-A;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Variant T agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaaga GTGATCATAGGT CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgtgatcataggtAGATCGAGACCCGACGC chr12:6711731-Variant-T;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative G agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaaga GATGGTAGCTAA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgatggtagctaaAGATCGAGACCCGACGC chr12:6711731-Alternative-G;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative G agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaaga GTACGACAGCTA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgtacgacagctaAGATCGAGACCCGACGC chr12:6711731-Alternative-G;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Variant T agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaaga ATACGTGTAGTC CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAatacgtgtagtcAGATCGAGACCCGACGC chr12:6711731-Variant-T;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Reference A agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaaga GACAAGCTCGAA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgacaagctcgaaAGATCGAGACCCGACGC chr12:6711731-Reference-A;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative C agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaaga AGTAAGCGCTAA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAagtaagcgctaaAGATCGAGACCCGACGC chr12:6711731-Alternative-C;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Reference A agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaaga GTTCTAGGCTAA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgttctaggctaaAGATCGAGACCCGACGC chr12:6711731-Reference-A;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Variant T agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaaga CATTGTAACCGA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcattgtaaccgaAGATCGAGACCCGACGC chr12:6711731-Variant-T;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative G agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaaga ACTTAGCCGACG CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAacttagccgacgAGATCGAGACCCGACGC chr12:6711731-Alternative-G;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative G agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaaga GGACCACATCAA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccGgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAggaccacatcaaAGATCGAGACCCGACGC chr12:6711731-Alternative-G;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative C agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaaga GAATCGGCCTGA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAgaatcggcctgaAGATCGAGACCCGACGC chr12:6711731-Alternative-C;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative C agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaaga AGACGAACGCTT CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAagacgaacgcttAGATCGAGACCCGACGC chr12:6711731-Alternative-C;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Variant T agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaaga ACCGTCGACTGA CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccTgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAaccgtcgactgaAGATCGAGACCCGACGC chr12:6711731-Variant-T;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Alternative C agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaaga CGACACCATAAC CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccCgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcgacaccataacAGATCGAGACCCGACGC chr12:6711731-Alternative-C;Patient-5 chr12:6711731-AT DeNovo Patient-5 intronic CHD4 NA 4.95e-05 0.88 12.42 -4.25 CHD4 4819 Reference A agagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaaga CAGCTAACGCGT CGACGCGGTCTCTCTCTagagtggtaggcagggaaaagatcaatagcaaaaggttaggccctaatccAgaggctttagactttattccccacctcttgtcccagattcctctgaagaAGAGGGAGACGGACGTCTCAATAAcagctaacgcgtAGATCGAGACCCGACGC chr12:6711731-Reference-A;Patient-5 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Reference C agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ACGAGTTGCGGT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAacgagttgcggtAGATCGAGACCCGACGC chr12:67976973-Reference-C;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative A agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta AGTTCAAGAGCA CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAagttcaagagcaAGATCGAGACCCGACGC chr12:67976973-Alternative-A;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Reference C agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GGTCATTCTGTT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAggtcattctgttAGATCGAGACCCGACGC chr12:67976973-Reference-C;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative A agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta CGATTACTCCGC CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAcgattactccgcAGATCGAGACCCGACGC chr12:67976973-Alternative-A;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative G agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ATTCTCGGCGAG CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAattctcggcgagAGATCGAGACCCGACGC chr12:67976973-Alternative-G;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative G agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ACAGATACCAAG CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAacagataccaagAGATCGAGACCCGACGC chr12:67976973-Alternative-G;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative G agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GTCATTCGACTA CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAgtcattcgactaAGATCGAGACCCGACGC chr12:67976973-Alternative-G;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Reference C agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta AATGTGTTCGCA CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAaatgtgttcgcaAGATCGAGACCCGACGC chr12:67976973-Reference-C;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Reference C agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ATTGGTCAGCTT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAattggtcagcttAGATCGAGACCCGACGC chr12:67976973-Reference-C;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Variant T agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta CTAGAGACTGCG CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAActagagactgcgAGATCGAGACCCGACGC chr12:67976973-Variant-T;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative G agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GTACGTCCTTAT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAgtacgtccttatAGATCGAGACCCGACGC chr12:67976973-Alternative-G;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Variant T agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ACAATGGACCGT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAacaatggaccgtAGATCGAGACCCGACGC chr12:67976973-Variant-T;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative A agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta ATCGGATTAGTC CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAatcggattagtcAGATCGAGACCCGACGC chr12:67976973-Alternative-A;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative A agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GAAGTTGGATGC CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAgaagttggatgcAGATCGAGACCCGACGC chr12:67976973-Alternative-A;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Reference C agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta AGGCCGTCTGTT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgCtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAaggccgtctgttAGATCGAGACCCGACGC chr12:67976973-Reference-C;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative A agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GCGGATTAGTGG CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgAtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAgcggattagtggAGATCGAGACCCGACGC chr12:67976973-Alternative-A;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Variant T agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta GATAGGAGCCGT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAgataggagccgtAGATCGAGACCCGACGC chr12:67976973-Variant-T;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Variant T agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta AGTGCTAGTCGA CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAagtgctagtcgaAGATCGAGACCCGACGC chr12:67976973-Variant-T;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Variant T agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta CTTAGCGAGTAT CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgTtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAActtagcgagtatAGATCGAGACCCGACGC chr12:67976973-Variant-T;Patient-20 chr12:67976973-CT DeNovo Patient-20 intergenic NA 0.000513 0.15 5.02 1.47 DYRK2 65538 Alternative G agttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctaccta CACAACGCTTAA CGACGCGGTCTCTCTCTagttagaaatggtagatcagggttcaggaaaatcccccttgactgtgctgGtctactatgaccctgaaagtcctccatttggcaggcagcagcctacctaAGAGGGAGACGGACGTCTCAATAAcacaacgcttaaAGATCGAGACCCGACGC chr12:67976973-Alternative-G;Patient-20 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Reference T agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CTAATCGCGAAT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAActaatcgcgaatAGATCGAGACCCGACGC chr12:68508743-Reference-T;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Reference T agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AGTATAACGGCA CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAagtataacggcaAGATCGAGACCCGACGC chr12:68508743-Reference-T;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Reference T agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg ACAATGTGCGCG CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAacaatgtgcgcgAGATCGAGACCCGACGC chr12:68508743-Reference-T;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative G agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CGTTGCTGCATC CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcgttgctgcatcAGATCGAGACCCGACGC chr12:68508743-Alternative-G;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative G agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CGTAGCCTGACT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcgtagcctgactAGATCGAGACCCGACGC chr12:68508743-Alternative-G;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative G agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg ACTGAATCCGGT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAactgaatccggtAGATCGAGACCCGACGC chr12:68508743-Alternative-G;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative G agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CACGCGTGTACT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcacgcgtgtactAGATCGAGACCCGACGC chr12:68508743-Alternative-G;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative G agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CGTAGCTAACTT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaGaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcgtagctaacttAGATCGAGACCCGACGC chr12:68508743-Alternative-G;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Variant C agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg GTAATAGGTGGT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAgtaataggtggtAGATCGAGACCCGACGC chr12:68508743-Variant-C;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Variant C agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AATCGAAGCTGT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAaatcgaagctgtAGATCGAGACCCGACGC chr12:68508743-Variant-C;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Variant C agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CGCAACGTAGTT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcgcaacgtagttAGATCGAGACCCGACGC chr12:68508743-Variant-C;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Variant C agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CGATAATAGACG CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcgataatagacgAGATCGAGACCCGACGC chr12:68508743-Variant-C;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Variant C agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AGTACGGAGCCA CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaCaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAagtacggagccaAGATCGAGACCCGACGC chr12:68508743-Variant-C;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative A agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AGTGATCGGAGT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAagtgatcggagtAGATCGAGACCCGACGC chr12:68508743-Alternative-A;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative A agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AACGCCACGTAC CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAaacgccacgtacAGATCGAGACCCGACGC chr12:68508743-Alternative-A;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative A agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CAGCAGCGTAAG CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcagcagcgtaagAGATCGAGACCCGACGC chr12:68508743-Alternative-A;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative A agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg CACGATCGGCAT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAcacgatcggcatAGATCGAGACCCGACGC chr12:68508743-Alternative-A;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Alternative A agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg ATACCGGTTACA CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaAaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAataccggttacaAGATCGAGACCCGACGC chr12:68508743-Alternative-A;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Reference T agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg GATTGGACGCGA CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAgattggacgcgaAGATCGAGACCCGACGC chr12:68508743-Reference-T;Patient-30 chr12:68508743-TC Inherited Patient-30 intergenic 0.000509 0.00103 NA NA NA IFNG 44777 Reference T agtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatg AGACCGGCGATT CGACGCGGTCTCTCTCTagtaccatgtgtgcaagtcacttcagaatgagacactggatgccatataaTaaagtcaactaggaaggtctttgataaacctttattcttgtgaattatgAGAGGGAGACGGACGTCTCAATAAagaccggcgattAGATCGAGACCCGACGC chr12:68508743-Reference-T;Patient-30 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative C gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc CACGCTCCTATA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAcacgctcctataAGATCGAGACCCGACGC chr12:68588963-Alternative-C;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative C gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc CAGACTTCGACG CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAcagacttcgacgAGATCGAGACCCGACGC chr12:68588963-Alternative-C;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative C gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc ACACAGCGTACA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAacacagcgtacaAGATCGAGACCCGACGC chr12:68588963-Alternative-C;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Reference T gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GTCAGCTAATCA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAgtcagctaatcaAGATCGAGACCCGACGC chr12:68588963-Reference-T;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative A gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc CAACATAGCAGA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAcaacatagcagaAGATCGAGACCCGACGC chr12:68588963-Alternative-A;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative C gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc CTTACGTATCGT CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAActtacgtatcgtAGATCGAGACCCGACGC chr12:68588963-Alternative-C;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative C gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc AACGTGCGACCT CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagCctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAaacgtgcgacctAGATCGAGACCCGACGC chr12:68588963-Alternative-C;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative A gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GACGACGAGAAG CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAgacgacgagaagAGATCGAGACCCGACGC chr12:68588963-Alternative-A;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Variant G gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc AACGGCTCATGC CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAaacggctcatgcAGATCGAGACCCGACGC chr12:68588963-Variant-G;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Variant G gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GTGTCGTTGTGG CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAgtgtcgttgtggAGATCGAGACCCGACGC chr12:68588963-Variant-G;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Variant G gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GGCGTCATCACA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAggcgtcatcacaAGATCGAGACCCGACGC chr12:68588963-Variant-G;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Reference T gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc ACAGCAAGAATC CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAacagcaagaatcAGATCGAGACCCGACGC chr12:68588963-Reference-T;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Reference T gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc ACTTACAACCGA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAacttacaaccgaAGATCGAGACCCGACGC chr12:68588963-Reference-T;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Reference T gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GTTCCAGCATAA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAgttccagcataaAGATCGAGACCCGACGC chr12:68588963-Reference-T;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Reference T gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc ACAGCGAGAGAT CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagTctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAacagcgagagatAGATCGAGACCCGACGC chr12:68588963-Reference-T;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative A gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc CGTGGACGAGAT CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAcgtggacgagatAGATCGAGACCCGACGC chr12:68588963-Alternative-A;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Variant G gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc AACAGATAGCGG CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAaacagatagcggAGATCGAGACCCGACGC chr12:68588963-Variant-G;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative A gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GCATCACGATCA CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAgcatcacgatcaAGATCGAGACCCGACGC chr12:68588963-Alternative-A;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Variant G gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc ATATAACACGCG CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagGctcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAatataacacgcgAGATCGAGACCCGACGC chr12:68588963-Variant-G;Patient-3 chr12:68588963-TG DeNovo Patient-3 intergenic NA 0.000513 -0.01 2.45 0.24 IL26 30607 Alternative A gggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtc GGAGAACTAGAT CGACGCGGTCTCTCTCTgggacataatttctgtgaagagaatgctttctcaccagttccaaaaaaagActcaaaaggtcatcttattatgcaaaagttaatgacacttgtggctgtcAGAGGGAGACGGACGTCTCAATAAggagaactagatAGATCGAGACCCGACGC chr12:68588963-Alternative-A;Patient-3 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Reference G tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AACACGGACGCA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAaacacggacgcaAGATCGAGACCCGACGC chr12:69063963-Reference-G;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Reference G tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg ATAGTAAGCGAC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAatagtaagcgacAGATCGAGACCCGACGC chr12:69063963-Reference-G;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Reference G tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg ATCCTACGTAAG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAatcctacgtaagAGATCGAGACCCGACGC chr12:69063963-Reference-G;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Reference G tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AGGAGAACGACC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAaggagaacgaccAGATCGAGACCCGACGC chr12:69063963-Reference-G;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative C tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CTAGATTCGTTC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAActagattcgttcAGATCGAGACCCGACGC chr12:69063963-Alternative-C;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Reference G tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CTTGACCAGTAA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccGcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAActtgaccagtaaAGATCGAGACCCGACGC chr12:69063963-Reference-G;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative T tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CGTAGTTATGGT CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAcgtagttatggtAGATCGAGACCCGACGC chr12:69063963-Alternative-T;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative T tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg GTGATATATCGG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAgtgatatatcggAGATCGAGACCCGACGC chr12:69063963-Alternative-T;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative T tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AAGACCACATGA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAaagaccacatgaAGATCGAGACCCGACGC chr12:69063963-Alternative-T;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Variant A tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AGAATCATAGCG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAagaatcatagcgAGATCGAGACCCGACGC chr12:69063963-Variant-A;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative T tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg ATTGACATAGCG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAattgacatagcgAGATCGAGACCCGACGC chr12:69063963-Alternative-T;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative C tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AATCGGCTTAAC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAaatcggcttaacAGATCGAGACCCGACGC chr12:69063963-Alternative-C;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Variant A tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CGCGGTATGTTC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAcgcggtatgttcAGATCGAGACCCGACGC chr12:69063963-Variant-A;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative T tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg ATAGCTCGTCAC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccTcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAatagctcgtcacAGATCGAGACCCGACGC chr12:69063963-Alternative-T;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Variant A tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AACACCGATAAG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAaacaccgataagAGATCGAGACCCGACGC chr12:69063963-Variant-A;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative C tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg AGAATGGCATCA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAagaatggcatcaAGATCGAGACCCGACGC chr12:69063963-Alternative-C;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative C tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CTCAACCTTGCA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAActcaaccttgcaAGATCGAGACCCGACGC chr12:69063963-Alternative-C;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Variant A tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg CAACTAAGGTCA CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAcaactaaggtcaAGATCGAGACCCGACGC chr12:69063963-Variant-A;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Variant A tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg GGAATTATGACG CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccAcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAggaattatgacgAGATCGAGACCCGACGC chr12:69063963-Variant-A;Patient-19 chr12:69063963-GA DeNovo Patient-19 intergenic 6.4e-05 0.00103 0.55 9.81 0 NUP107 16767 Alternative C tccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccg ACGGCTATATAC CGACGCGGTCTCTCTCTtccatgttggtcaggctagttgcgaactcccaacctcaggtcatctgcccCcctcagcctcccaaagtactgggattacaggtgtgagccactgtgcccgAGAGGGAGACGGACGTCTCAATAAacggctatatacAGATCGAGACCCGACGC chr12:69063963-Alternative-C;Patient-19 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative T ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc ATAGACGACGAT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAatagacgacgatAGATCGAGACCCGACGC chr12:69120861-Alternative-T;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Variant A ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CTTACCACGCCA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAActtaccacgccaAGATCGAGACCCGACGC chr12:69120861-Variant-A;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Variant A ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc AATCTCGGATGT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAaatctcggatgtAGATCGAGACCCGACGC chr12:69120861-Variant-A;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Variant A ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc AACCGATACGAA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAaaccgatacgaaAGATCGAGACCCGACGC chr12:69120861-Variant-A;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative T ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CACTTCGTTCGG CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAcacttcgttcggAGATCGAGACCCGACGC chr12:69120861-Alternative-T;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative G ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc ACCGAATGCGGT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAaccgaatgcggtAGATCGAGACCCGACGC chr12:69120861-Alternative-G;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Variant A ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CGTAGAAGCTTA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAcgtagaagcttaAGATCGAGACCCGACGC chr12:69120861-Variant-A;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Variant A ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc AGAATCGAATCG CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatAtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAagaatcgaatcgAGATCGAGACCCGACGC chr12:69120861-Variant-A;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Reference C ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc AGATACCGTCCT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAagataccgtcctAGATCGAGACCCGACGC chr12:69120861-Reference-C;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative T ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CGTCCTACTCGA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAcgtcctactcgaAGATCGAGACCCGACGC chr12:69120861-Alternative-T;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative T ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc GGTTGTGACGTC CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAggttgtgacgtcAGATCGAGACCCGACGC chr12:69120861-Alternative-T;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Reference C ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc AATCGTAGCGCG CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAaatcgtagcgcgAGATCGAGACCCGACGC chr12:69120861-Reference-C;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Reference C ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CTGGTCGTATCA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAActggtcgtatcaAGATCGAGACCCGACGC chr12:69120861-Reference-C;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Reference C ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CTGGTCCTGGTT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAActggtcctggttAGATCGAGACCCGACGC chr12:69120861-Reference-C;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative G ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc GGTTCATAGCAT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAggttcatagcatAGATCGAGACCCGACGC chr12:69120861-Alternative-G;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative G ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc GAGCTCGGTACT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAgagctcggtactAGATCGAGACCCGACGC chr12:69120861-Alternative-G;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Reference C ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc ATCTGCGCAATA CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatCtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAatctgcgcaataAGATCGAGACCCGACGC chr12:69120861-Reference-C;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative T ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CATCGTTATGAG CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatTtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAcatcgttatgagAGATCGAGACCCGACGC chr12:69120861-Alternative-T;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative G ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CAGTTATCGCAT CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAAcagttatcgcatAGATCGAGACCCGACGC chr12:69120861-Alternative-G;Patient-84 chr12:69120861-CA DeNovo Patient-84 intronic NUP107 NA 0.000148 0 2.7 0.86 NUP107 40129 Alternative G ggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctc CTAGAACGACGC CGACGCGGTCTCTCTCTggctttggagtaggagtcctgagtatatacccttattcagcagcttctatGtgtgtaactctgggtaaataaaacttcccttggtcctaatttcatcctcAGAGGGAGACGGACGTCTCAATAActagaacgacgcAGATCGAGACCCGACGC chr12:69120861-Alternative-G;Patient-84 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative A atatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtccca GCACGACTGAAC CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAgcacgactgaacAGATCGAGACCCGACGC chr12:69159518-Alternative-A;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative G atatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtccca GCAACGAATAGT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAgcaacgaatagtAGATCGAGACCCGACGC chr12:69159518-Alternative-G;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Variant C atatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtccca GTGCCGACGTAT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAgtgccgacgtatAGATCGAGACCCGACGC chr12:69159518-Variant-C;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative A atatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtccca CAGCTTACTAAG CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcagcttactaagAGATCGAGACCCGACGC chr12:69159518-Alternative-A;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Reference T atatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtccca CTAGCTAAGCCA CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAActagctaagccaAGATCGAGACCCGACGC chr12:69159518-Reference-T;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative G atatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtccca AGGTGGTGCGAT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAaggtggtgcgatAGATCGAGACCCGACGC chr12:69159518-Alternative-G;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative G atatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtccca ATACGTGAGACA CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAatacgtgagacaAGATCGAGACCCGACGC chr12:69159518-Alternative-G;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative A atatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtccca CGTTGCTCGGTT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcgttgctcggttAGATCGAGACCCGACGC chr12:69159518-Alternative-A;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Reference T atatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtccca AGGAACGCGGAT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAaggaacgcggatAGATCGAGACCCGACGC chr12:69159518-Reference-T;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Reference T atatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtccca CACAACGATCAT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcacaacgatcatAGATCGAGACCCGACGC chr12:69159518-Reference-T;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative A atatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtccca CTAGCTGCCATC CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAActagctgccatcAGATCGAGACCCGACGC chr12:69159518-Alternative-A;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative G atatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtccca CGGCGATACGAT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcggcgatacgatAGATCGAGACCCGACGC chr12:69159518-Alternative-G;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Reference T atatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtccca ATCGTCTAGCTT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAatcgtctagcttAGATCGAGACCCGACGC chr12:69159518-Reference-T;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative A atatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtccca CGCAGAATTAGG CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataAatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcgcagaattaggAGATCGAGACCCGACGC chr12:69159518-Alternative-A;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Alternative G atatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtccca ATTCCACGGCAG CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataGatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAattccacggcagAGATCGAGACCCGACGC chr12:69159518-Alternative-G;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Reference T atatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtccca CTAGGCCGTGAA CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataTatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAActaggccgtgaaAGATCGAGACCCGACGC chr12:69159518-Reference-T;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Variant C atatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtccca AGGCGTAGCATC CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAaggcgtagcatcAGATCGAGACCCGACGC chr12:69159518-Variant-C;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Variant C atatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtccca CACGGTCAGGTT CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcacggtcaggttAGATCGAGACCCGACGC chr12:69159518-Variant-C;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Variant C atatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtccca ACCTTAACCGGC CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAaccttaaccggcAGATCGAGACCCGACGC chr12:69159518-Variant-C;Patient-55 chr12:69159518-TC DeNovo Patient-55 3 prime UTR SLC35E3 3.3e-05 0.00016 -0.04 2.04 0.33 SLC35E3 19581 Variant C atatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtccca CAGTATACGGAA CGACGCGGTCTCTCTCTatatacatgtgtatatatataccatcccatatatatgtgggatatatataCatatatatatggatatggttatatatatgggatggtttggttggtcccaAGAGGGAGACGGACGTCTCAATAAcagtatacggaaAGATCGAGACCCGACGC chr12:69159518-Variant-C;Patient-55 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Variant A agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccactta GAGCATCAGTAA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgagcatcagtaaAGATCGAGACCCGACGC chr12:69586225-Variant-A;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Variant A agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccactta GATGTCGTCGCA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgatgtcgtcgcaAGATCGAGACCCGACGC chr12:69586225-Variant-A;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Variant A agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccactta CTAGTTACCTGT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAActagttacctgtAGATCGAGACCCGACGC chr12:69586225-Variant-A;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative G agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccactta CGGATGCCGATA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcggatgccgataAGATCGAGACCCGACGC chr12:69586225-Alternative-G;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative C agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccactta GAGTTGATGCGC CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgagttgatgcgcAGATCGAGACCCGACGC chr12:69586225-Alternative-C;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative G agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccactta GTAATATGCCGA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgtaatatgccgaAGATCGAGACCCGACGC chr12:69586225-Alternative-G;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Reference T agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccactta GTAAGCATTGTC CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgtaagcattgtcAGATCGAGACCCGACGC chr12:69586225-Reference-T;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Variant A agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccactta CGATGTGGTACA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcgatgtggtacaAGATCGAGACCCGACGC chr12:69586225-Variant-A;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Reference T agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccactta CATAGGTTACGT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcataggttacgtAGATCGAGACCCGACGC chr12:69586225-Reference-T;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative C agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccactta GATGCAGGTGGT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgatgcaggtggtAGATCGAGACCCGACGC chr12:69586225-Alternative-C;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative C agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccactta CGCGTATCTGCA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcgcgtatctgcaAGATCGAGACCCGACGC chr12:69586225-Alternative-C;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative G agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccactta GTTGACGTGTGC CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgttgacgtgtgcAGATCGAGACCCGACGC chr12:69586225-Alternative-G;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative G agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccactta CAGGCTTAAGAA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcaggcttaagaaAGATCGAGACCCGACGC chr12:69586225-Alternative-G;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative G agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccactta GACTGAACAGTT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaGaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgactgaacagttAGATCGAGACCCGACGC chr12:69586225-Alternative-G;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Reference T agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccactta CGACGTCAAGTC CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAcgacgtcaagtcAGATCGAGACCCGACGC chr12:69586225-Reference-T;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative C agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccactta CTAATAGTTCGC CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAActaatagttcgcAGATCGAGACCCGACGC chr12:69586225-Alternative-C;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Variant A agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccactta CTTAGGACGCAT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaAaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAActtaggacgcatAGATCGAGACCCGACGC chr12:69586225-Variant-A;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Reference T agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccactta GTGTCGCAATTA CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgtgtcgcaattaAGATCGAGACCCGACGC chr12:69586225-Reference-T;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Alternative C agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccactta GTACTTGTCGTT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaCaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAgtacttgtcgttAGATCGAGACCCGACGC chr12:69586225-Alternative-C;Patient-101 chr12:69586225-TA DeNovo Patient-101 intergenic 3.2e-05 0.000513 0.36 7.99 0.88 CPSF6 47091 Reference T agttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccactta ATCTCAGACCTT CGACGCGGTCTCTCTCTagttggttgcctgtcttgagttccagtaatcaaggatcctggattcagtaTaaatatttggctggtgatatttccatactcttttttcccttcccacttaAGAGGGAGACGGACGTCTCAATAAatctcagaccttAGATCGAGACCCGACGC chr12:69586225-Reference-T;Patient-101 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative G aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GTGAGACACCTA CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgtgagacacctaAGATCGAGACCCGACGC chr12:69891757-Alternative-G;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative G aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt CTAGATGGTAAG CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAActagatggtaagAGATCGAGACCCGACGC chr12:69891757-Alternative-G;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative G aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt CTATAACGCCGC CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAActataacgccgcAGATCGAGACCCGACGC chr12:69891757-Alternative-G;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative G aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt CGACCGAAGTCT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAcgaccgaagtctAGATCGAGACCCGACGC chr12:69891757-Alternative-G;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative G aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GCGCGCTTAGTT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaGtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgcgcgcttagttAGATCGAGACCCGACGC chr12:69891757-Alternative-G;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Reference T aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt CGGTCACGGTAA CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAcggtcacggtaaAGATCGAGACCCGACGC chr12:69891757-Reference-T;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Reference T aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt AGCGGTGCAAGT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAagcggtgcaagtAGATCGAGACCCGACGC chr12:69891757-Reference-T;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Reference T aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt CACGTGACTCCT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAcacgtgactcctAGATCGAGACCCGACGC chr12:69891757-Reference-T;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative A aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GTGACATCGTCG CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgtgacatcgtcgAGATCGAGACCCGACGC chr12:69891757-Alternative-A;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative A aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GTGTAACCGACC CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgtgtaaccgaccAGATCGAGACCCGACGC chr12:69891757-Alternative-A;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Reference T aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt ACGAACGACTAA CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAacgaacgactaaAGATCGAGACCCGACGC chr12:69891757-Reference-T;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative A aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GACTGATTCCGG CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgactgattccggAGATCGAGACCCGACGC chr12:69891757-Alternative-A;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative A aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GATTGACCAACT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgattgaccaactAGATCGAGACCCGACGC chr12:69891757-Alternative-A;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Reference T aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GCACGTACTTAA CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaTtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgcacgtacttaaAGATCGAGACCCGACGC chr12:69891757-Reference-T;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Variant C aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GTGACGAGATAT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgtgacgagatatAGATCGAGACCCGACGC chr12:69891757-Variant-C;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Variant C aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GTGTACGCAATT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAgtgtacgcaattAGATCGAGACCCGACGC chr12:69891757-Variant-C;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Variant C aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt GGACCATACGAA CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAggaccatacgaaAGATCGAGACCCGACGC chr12:69891757-Variant-C;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Alternative A aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt ACGGCTTATCGC CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaAtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAacggcttatcgcAGATCGAGACCCGACGC chr12:69891757-Alternative-A;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Variant C aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt ACTGAACGCGGT CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAactgaacgcggtAGATCGAGACCCGACGC chr12:69891757-Variant-C;Patient-60 chr12:69891757-TC DeNovo Patient-60 intronic FRS2 NA 0.00016 NA NA NA FRS2 27627 Variant C aatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagatttttttt AAGCGGACCATC CGACGCGGTCTCTCTCTaatggtaaggtgattatgagagtataactgttattccaggaaaaagataaCtccaccaatatctatcatcagtccttgtttgttttttcagattttttttAGAGGGAGACGGACGTCTCAATAAaagcggaccatcAGATCGAGACCCGACGC chr12:69891757-Variant-C;Patient-60 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative G tgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CAGATACATGCT CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAcagatacatgctAGATCGAGACCCGACGC chr12:71300291-Alternative-G;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative G tgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GTACCTGTCGCA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgtacctgtcgcaAGATCGAGACCCGACGC chr12:71300291-Alternative-G;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative G tgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac AGATACTCCGCA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAagatactccgcaAGATCGAGACCCGACGC chr12:71300291-Alternative-G;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative A tgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GAGTAGTCAAGA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgagtagtcaagaAGATCGAGACCCGACGC chr12:71300291-Alternative-A;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative G tgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac ACTCGCTGCATC CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAactcgctgcatcAGATCGAGACCCGACGC chr12:71300291-Alternative-G;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Reference T tgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GCATACTGGTCA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgcatactggtcaAGATCGAGACCCGACGC chr12:71300291-Reference-T;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Reference T tgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CTCGTGGTCAAG CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAActcgtggtcaagAGATCGAGACCCGACGC chr12:71300291-Reference-T;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Variant C tgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CAGTATGCGGAC CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAcagtatgcggacAGATCGAGACCCGACGC chr12:71300291-Variant-C;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative G tgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GTGCTTCACGAG CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaGctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgtgcttcacgagAGATCGAGACCCGACGC chr12:71300291-Alternative-G;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative A tgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CACGTAGTCGAC CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAcacgtagtcgacAGATCGAGACCCGACGC chr12:71300291-Alternative-A;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Reference T tgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac AACTCTGAGCGA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAaactctgagcgaAGATCGAGACCCGACGC chr12:71300291-Reference-T;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Reference T tgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac ATCGAAGGTGGT CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAatcgaaggtggtAGATCGAGACCCGACGC chr12:71300291-Reference-T;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Variant C tgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GGCTTACCTGAG CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAggcttacctgagAGATCGAGACCCGACGC chr12:71300291-Variant-C;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Variant C tgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GTGCCGCAGATT CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgtgccgcagattAGATCGAGACCCGACGC chr12:71300291-Variant-C;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative A tgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaac ACAAGGTTAACG CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAacaaggttaacgAGATCGAGACCCGACGC chr12:71300291-Alternative-A;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative A tgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CTTGGTCCGAAC CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAActtggtccgaacAGATCGAGACCCGACGC chr12:71300291-Alternative-A;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Variant C tgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CTCACATGTCTA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAActcacatgtctaAGATCGAGACCCGACGC chr12:71300291-Variant-C;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Reference T tgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac AAGGCGCAGCAA CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaTctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAaaggcgcagcaaAGATCGAGACCCGACGC chr12:71300291-Reference-T;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Variant C tgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaac GACAGTAGTAGT CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaCctccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAgacagtagtagtAGATCGAGACCCGACGC chr12:71300291-Variant-C;Patient-22 chr12:71300291-TC Inherited Patient-22 intronic PTPRR 0.000383 0.000247 0.46 8.97 0.97 PTPRR 14292 Alternative A tgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaac CAGACGACGAGT CGACGCGGTCTCTCTCTtgttctatcattctattggtaatagtaacaagagataaccagaatactaaActccagttaaaagtgtcaacagtaataacactaaaccccactgataaacAGAGGGAGACGGACGTCTCAATAAcagacgacgagtAGATCGAGACCCGACGC chr12:71300291-Alternative-A;Patient-22 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative A cttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaa GGCGGTGAACTT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAggcggtgaacttAGATCGAGACCCGACGC chr12:7316195-Alternative-A;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative C cttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CACAATATCCGA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcacaatatccgaAGATCGAGACCCGACGC chr12:7316195-Alternative-C;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative C cttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa ATCGTAAGCGCG CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAatcgtaagcgcgAGATCGAGACCCGACGC chr12:7316195-Alternative-C;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative C cttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CGATGTCGGCAT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcgatgtcggcatAGATCGAGACCCGACGC chr12:7316195-Alternative-C;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative A cttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaa GAATAACTCGCG CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAgaataactcgcgAGATCGAGACCCGACGC chr12:7316195-Alternative-A;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative C cttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa GGTATCAGACGC CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAggtatcagacgcAGATCGAGACCCGACGC chr12:7316195-Alternative-C;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative C cttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CATCACATCGAA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccCcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcatcacatcgaaAGATCGAGACCCGACGC chr12:7316195-Alternative-C;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative A cttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaa ACCGTCGCTAAG CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAaccgtcgctaagAGATCGAGACCCGACGC chr12:7316195-Alternative-A;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative A cttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaa ATTGGCCGTCAC CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAattggccgtcacAGATCGAGACCCGACGC chr12:7316195-Alternative-A;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Alternative A cttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaa CGTTGGTCCGTT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccActtcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcgttggtccgttAGATCGAGACCCGACGC chr12:7316195-Alternative-A;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Reference T cttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa GGTACAATAGCA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAggtacaatagcaAGATCGAGACCCGACGC chr12:7316195-Reference-T;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Reference T cttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CGCAATATAGGT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcgcaatataggtAGATCGAGACCCGACGC chr12:7316195-Reference-T;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Variant G cttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CTATTGCATCGT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAActattgcatcgtAGATCGAGACCCGACGC chr12:7316195-Variant-G;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Variant G cttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CGTGCGGTTAGA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAcgtgcggttagaAGATCGAGACCCGACGC chr12:7316195-Variant-G;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Variant G cttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa AATGACCTGCGC CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAaatgacctgcgcAGATCGAGACCCGACGC chr12:7316195-Variant-G;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Reference T cttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa GACTGCGTTCCT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAgactgcgttcctAGATCGAGACCCGACGC chr12:7316195-Reference-T;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Variant G cttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa CTGGCATAAGCG CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAActggcataagcgAGATCGAGACCCGACGC chr12:7316195-Variant-G;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Reference T cttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa ATCAACGGAACT CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAatcaacggaactAGATCGAGACCCGACGC chr12:7316195-Reference-T;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Variant G cttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa GGCCAAGACCTA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccGcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAggccaagacctaAGATCGAGACCCGACGC chr12:7316195-Variant-G;Patient-71 chr12:7316195-TG DeNovo Patient-71 intergenic 0.000797 0.002051282 0.12 4.65 0.3 PEX5 25563 Reference T cttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaa AACAGGCTAACA CGACGCGGTCTCTCTCTcttgccccctgaaagtctagccccctcccagaccattggacgacttccccTcttcctcggggacgtattcttgctatgccatctttttggtttggggaaaAGAGGGAGACGGACGTCTCAATAAaacaggctaacaAGATCGAGACCCGACGC chr12:7316195-Reference-T;Patient-71 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Reference T cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcat AGGTACGCAGAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAaggtacgcagatAGATCGAGACCCGACGC chr12:7349707-Reference-T;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative G cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcat GGACCTAGTAAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAggacctagtaatAGATCGAGACCCGACGC chr12:7349707-Alternative-G;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Reference T cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcat CTACGAGTAACA CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAActacgagtaacaAGATCGAGACCCGACGC chr12:7349707-Reference-T;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Reference T cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcat AGTACGCCGAAC CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAagtacgccgaacAGATCGAGACCCGACGC chr12:7349707-Reference-T;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative G cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcat GGATATGGTGAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAggatatggtgatAGATCGAGACCCGACGC chr12:7349707-Alternative-G;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative G cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcat CTGAATCAACCG CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAActgaatcaaccgAGATCGAGACCCGACGC chr12:7349707-Alternative-G;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative A cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcat CTTGCATTCGCG CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAActtgcattcgcgAGATCGAGACCCGACGC chr12:7349707-Alternative-A;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Reference T cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcat CATTCAGCAACA CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAcattcagcaacaAGATCGAGACCCGACGC chr12:7349707-Reference-T;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative A cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcat GTACGCGCAGAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAgtacgcgcagatAGATCGAGACCCGACGC chr12:7349707-Alternative-A;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative A cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcat GCATGTCATACT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAgcatgtcatactAGATCGAGACCCGACGC chr12:7349707-Alternative-A;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Reference T cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcat ACGCATTATCAG CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaTataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAacgcattatcagAGATCGAGACCCGACGC chr12:7349707-Reference-T;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Variant C cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcat CGACTAACGCGT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAcgactaacgcgtAGATCGAGACCCGACGC chr12:7349707-Variant-C;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Variant C cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcat AATCTGCTTGTC CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAaatctgcttgtcAGATCGAGACCCGACGC chr12:7349707-Variant-C;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative A cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcat ATAGTGGAGTAC CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAatagtggagtacAGATCGAGACCCGACGC chr12:7349707-Alternative-A;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative A cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcat AGGAACAACACT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaAataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAaggaacaacactAGATCGAGACCCGACGC chr12:7349707-Alternative-A;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Variant C cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcat GCGGTTAACAGG CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAgcggttaacaggAGATCGAGACCCGACGC chr12:7349707-Variant-C;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Variant C cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcat GACCTGGTTGCA CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAgacctggttgcaAGATCGAGACCCGACGC chr12:7349707-Variant-C;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative G cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcat ATCGTGAAGACT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAatcgtgaagactAGATCGAGACCCGACGC chr12:7349707-Alternative-G;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Variant C cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcat GGCGCTAGTCAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaCataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAggcgctagtcatAGATCGAGACCCGACGC chr12:7349707-Variant-C;Patient-96 chr12:7349707-TC DeNovo Patient-96 intronic PEX5 0.000336 0.000291 -0.14 1.09 0 PEX5 7947 Alternative G cacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcat GACGTTGCATAT CGACGCGGTCTCTCTCTcacatataatgtaattatatatgtcacatataatgtaattatatatgtcaGataatgtaataatatatgtcatatataatgtaataattatatatgtcatAGAGGGAGACGGACGTCTCAATAAgacgttgcatatAGATCGAGACCCGACGC chr12:7349707-Alternative-G;Patient-96 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative C atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacg ACGTAGCGAGGT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAacgtagcgaggtAGATCGAGACCCGACGC chr12:75536947-Alternative-C;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative C atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacg GAGCCTATGTGC CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgagcctatgtgcAGATCGAGACCCGACGC chr12:75536947-Alternative-C;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Reference A atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacg GCATATCGGATA CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgcatatcggataAGATCGAGACCCGACGC chr12:75536947-Reference-A;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative T atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacg AGCCGTCGAATC CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAagccgtcgaatcAGATCGAGACCCGACGC chr12:75536947-Alternative-T;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Reference A atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacg GCGGCTTGATAC CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgcggcttgatacAGATCGAGACCCGACGC chr12:75536947-Reference-A;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Reference A atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacg GACTGGCGTCAT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgactggcgtcatAGATCGAGACCCGACGC chr12:75536947-Reference-A;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Reference A atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacg ACTGCTTCGTCG CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAactgcttcgtcgAGATCGAGACCCGACGC chr12:75536947-Reference-A;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Reference A atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacg CGGAATCAGCGT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccAatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAcggaatcagcgtAGATCGAGACCCGACGC chr12:75536947-Reference-A;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Variant G atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacg GCGCGCAACAAT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgcgcgcaacaatAGATCGAGACCCGACGC chr12:75536947-Variant-G;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Variant G atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacg CTCGGAGATGCT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAActcggagatgctAGATCGAGACCCGACGC chr12:75536947-Variant-G;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative T atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacg GGTCGAGATAAT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAggtcgagataatAGATCGAGACCCGACGC chr12:75536947-Alternative-T;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative T atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacg GACGGAACGACT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgacggaacgactAGATCGAGACCCGACGC chr12:75536947-Alternative-T;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative T atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacg ACTGCTTGGTTA CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAactgcttggttaAGATCGAGACCCGACGC chr12:75536947-Alternative-T;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative C atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacg ACCTAGCTCGCT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAacctagctcgctAGATCGAGACCCGACGC chr12:75536947-Alternative-C;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative C atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacg AACGGTAGACGA CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAaacggtagacgaAGATCGAGACCCGACGC chr12:75536947-Alternative-C;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Variant G atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacg CGACTAACTCTA CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAcgactaactctaAGATCGAGACCCGACGC chr12:75536947-Variant-G;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative T atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacg AGGTTAACGCTT CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccTatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAaggttaacgcttAGATCGAGACCCGACGC chr12:75536947-Alternative-T;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Variant G atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacg ATAGCCTGAACG CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAatagcctgaacgAGATCGAGACCCGACGC chr12:75536947-Variant-G;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Alternative C atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacg GTGACTAGTATC CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccCatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAgtgactagtatcAGATCGAGACCCGACGC chr12:75536947-Alternative-C;Patient-32 chr12:75536947-AG DeNovo Patient-32 intronic KCNC2 0.000606 4.95e-05 0 2.6 0.68 KCNC2 66580 Variant G atcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacg AAGAAGTGGCGC CGACGCGGTCTCTCTCTatcatcctggaagttaggaaattcgagatctaattccaggagatttaaccGatttgttatataattaaagtccctacaagtctcacttccctcatctacgAGAGGGAGACGGACGTCTCAATAAaagaagtggcgcAGATCGAGACCCGACGC chr12:75536947-Variant-G;Patient-32 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative C tattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctcc ACAACGGCGAAG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAacaacggcgaagAGATCGAGACCCGACGC chr12:76688044-Alternative-C;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative C tattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GGCTCGTTGTGA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAggctcgttgtgaAGATCGAGACCCGACGC chr12:76688044-Alternative-C;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Variant A tattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctcc AGGCTTGCGTTC CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAaggcttgcgttcAGATCGAGACCCGACGC chr12:76688044-Variant-A;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative C tattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctcc AGCGTACACCGT CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAagcgtacaccgtAGATCGAGACCCGACGC chr12:76688044-Alternative-C;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative C tattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GTACCACAGACA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAgtaccacagacaAGATCGAGACCCGACGC chr12:76688044-Alternative-C;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Variant A tattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CTCGCAATCAAT CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAActcgcaatcaatAGATCGAGACCCGACGC chr12:76688044-Variant-A;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Variant A tattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GGATACTTCGGC CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAggatacttcggcAGATCGAGACCCGACGC chr12:76688044-Variant-A;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative T tattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CATAGATCCAGG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAcatagatccaggAGATCGAGACCCGACGC chr12:76688044-Alternative-T;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Variant A tattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctcc ATCGCGTGTTCG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAatcgcgtgttcgAGATCGAGACCCGACGC chr12:76688044-Variant-A;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Reference G tattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GTGTTGGTTCGG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAgtgttggttcggAGATCGAGACCCGACGC chr12:76688044-Reference-G;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative C tattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GGCCAAGTAACG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctCggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAggccaagtaacgAGATCGAGACCCGACGC chr12:76688044-Alternative-C;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Variant A tattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctcc ACCGACGACTAT CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctAggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAaccgacgactatAGATCGAGACCCGACGC chr12:76688044-Variant-A;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative T tattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctcc AGACTACTCCAA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAagactactccaaAGATCGAGACCCGACGC chr12:76688044-Alternative-T;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative T tattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CAAGCCAACCGA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAcaagccaaccgaAGATCGAGACCCGACGC chr12:76688044-Alternative-T;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative T tattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GTACCGCAATTA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAgtaccgcaattaAGATCGAGACCCGACGC chr12:76688044-Alternative-T;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Reference G tattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CGACATTCGCTA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAcgacattcgctaAGATCGAGACCCGACGC chr12:76688044-Reference-G;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Reference G tattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctcc AAGAATCTCGTC CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAaagaatctcgtcAGATCGAGACCCGACGC chr12:76688044-Reference-G;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Reference G tattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CACAGCACCATA CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAcacagcaccataAGATCGAGACCCGACGC chr12:76688044-Reference-G;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Alternative T tattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctcc GGCTAATAACGT CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctTggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAggctaataacgtAGATCGAGACCCGACGC chr12:76688044-Alternative-T;Patient-100 chr12:76688044-GA DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.01 2.54 0 BBS10 54177 Reference G tattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctcc CGATAGTACACG CGACGCGGTCTCTCTCTtattaggttgagacattttaactaaattgtctgctttcctgactattcctGggctacagccacacctcattgccgcctttccccccaattcaaagcctccAGAGGGAGACGGACGTCTCAATAAcgatagtacacgAGATCGAGACCCGACGC chr12:76688044-Reference-G;Patient-100 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative C agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CTGGCGTAACGA CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAActggcgtaacgaAGATCGAGACCCGACGC chr12:77503244-Alternative-C;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative C agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg AACACGGATAGG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAaacacggataggAGATCGAGACCCGACGC chr12:77503244-Alternative-C;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative C agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg ATCGTTGTCAAG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAatcgttgtcaagAGATCGAGACCCGACGC chr12:77503244-Alternative-C;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Reference G agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CACAATCGGATA CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAcacaatcggataAGATCGAGACCCGACGC chr12:77503244-Reference-G;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Reference G agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GCCAAGCGTACT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAgccaagcgtactAGATCGAGACCCGACGC chr12:77503244-Reference-G;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative T agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg ACCGGAGCTACA CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAaccggagctacaAGATCGAGACCCGACGC chr12:77503244-Alternative-T;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative T agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg AGCCGACACGAT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAagccgacacgatAGATCGAGACCCGACGC chr12:77503244-Alternative-T;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative C agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg AGCTCGCAACAC CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAagctcgcaacacAGATCGAGACCCGACGC chr12:77503244-Alternative-C;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative T agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CGTTGTGAAGCG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAcgttgtgaagcgAGATCGAGACCCGACGC chr12:77503244-Alternative-T;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative T agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CGAGCTGACGAA CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAcgagctgacgaaAGATCGAGACCCGACGC chr12:77503244-Alternative-T;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Variant A agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg ACGACTAGTGCT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAacgactagtgctAGATCGAGACCCGACGC chr12:77503244-Variant-A;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Reference G agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GTCTCGACTTCG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAgtctcgacttcgAGATCGAGACCCGACGC chr12:77503244-Reference-G;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative C agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GTCGCCGATAGT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcCttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAgtcgccgatagtAGATCGAGACCCGACGC chr12:77503244-Alternative-C;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Alternative T agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CTGAGTATGCAC CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcTttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAActgagtatgcacAGATCGAGACCCGACGC chr12:77503244-Alternative-T;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Variant A agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CGTACGAGTTCG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAcgtacgagttcgAGATCGAGACCCGACGC chr12:77503244-Variant-A;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Reference G agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GTAGATGATCCT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAgtagatgatcctAGATCGAGACCCGACGC chr12:77503244-Reference-G;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Variant A agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GTCATGATCCAA CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAgtcatgatccaaAGATCGAGACCCGACGC chr12:77503244-Variant-A;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Variant A agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg CTCAATCAGGAT CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAActcaatcaggatAGATCGAGACCCGACGC chr12:77503244-Variant-A;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Reference G agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg AGCTTGAGGACG CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcGttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAagcttgaggacgAGATCGAGACCCGACGC chr12:77503244-Reference-G;Patient-79 chr12:77503244-GA DeNovo Patient-79 intergenic NA 0.000512821 -0.55 0.06 -6.53 E2F7 43883 Variant A agtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaagg GGTTGATTCTAC CGACGCGGTCTCTCTCTagtcctatatcaatcttacaagtaccgtagctacttatgaggggacccgcAttactgcagctagtcatatttttatgtgctacctctactcaaggaaaggAGAGGGAGACGGACGTCTCAATAAggttgattctacAGATCGAGACCCGACGC chr12:77503244-Variant-A;Patient-79 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative T gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc CGCATTGTAGAT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAcgcattgtagatAGATCGAGACCCGACGC chr12:7764766-Alternative-T;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative T gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc CAAGGTTCGTCG CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAcaaggttcgtcgAGATCGAGACCCGACGC chr12:7764766-Alternative-T;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Reference A gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GATTGTTGGCAT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgattgttggcatAGATCGAGACCCGACGC chr12:7764766-Reference-A;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Reference A gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GTAGTACGTGTT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgtagtacgtgttAGATCGAGACCCGACGC chr12:7764766-Reference-A;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative T gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GCCTTGATAGAA CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgccttgatagaaAGATCGAGACCCGACGC chr12:7764766-Alternative-T;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Reference A gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc CATCAGTGTCGG CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAcatcagtgtcggAGATCGAGACCCGACGC chr12:7764766-Reference-A;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative C gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GCACGCAATAGG CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgcacgcaataggAGATCGAGACCCGACGC chr12:7764766-Alternative-C;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative C gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GAGGTACCGCAT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgaggtaccgcatAGATCGAGACCCGACGC chr12:7764766-Alternative-C;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative C gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GACATCAACGCT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgacatcaacgctAGATCGAGACCCGACGC chr12:7764766-Alternative-C;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative C gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc AGTAAGTCGAAC CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAagtaagtcgaacAGATCGAGACCCGACGC chr12:7764766-Alternative-C;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative C gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GTTACTCATCGA CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatCtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgttactcatcgaAGATCGAGACCCGACGC chr12:7764766-Alternative-C;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative T gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc AGTAGCGACTAA CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAagtagcgactaaAGATCGAGACCCGACGC chr12:7764766-Alternative-T;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Alternative T gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc ACGAGAATCGTT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatTtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAacgagaatcgttAGATCGAGACCCGACGC chr12:7764766-Alternative-T;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Reference A gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc AGCACGGTGTTC CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAagcacggtgttcAGATCGAGACCCGACGC chr12:7764766-Reference-A;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Reference A gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GGTTCATTCTGT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatAtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAggttcattctgtAGATCGAGACCCGACGC chr12:7764766-Reference-A;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Variant G gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GCGACGACTAAG CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgcgacgactaagAGATCGAGACCCGACGC chr12:7764766-Variant-G;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Variant G gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc ACTAGTATGTGC CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAactagtatgtgcAGATCGAGACCCGACGC chr12:7764766-Variant-G;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Variant G gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc CGCAATAGGCTT CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAcgcaataggcttAGATCGAGACCCGACGC chr12:7764766-Variant-G;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Variant G gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc GTAAGTAGCGAA CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAgtaagtagcgaaAGATCGAGACCCGACGC chr12:7764766-Variant-G;Patient-59 chr12:7764766-AG DeNovo Patient-59 intergenic NA 0.000513 0.12 4.59 0.11 GDF3 83593 Variant G gagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggc CAGGTCATTGCG CGACGCGGTCTCTCTCTgagacacacaaacaaaaaggaagtttctggccaatatcctcaatgaacatGtaaggttggtgcaaaagtaattgcagtttttgccattgaaaataaaggcAGAGGGAGACGGACGTCTCAATAAcaggtcattgcgAGATCGAGACCCGACGC chr12:7764766-Variant-G;Patient-59 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative C tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagtt ATAGCTGACACG CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAatagctgacacgAGATCGAGACCCGACGC chr12:80101508-Alternative-C;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative C tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagtt GGAACGCGTCTA CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAggaacgcgtctaAGATCGAGACCCGACGC chr12:80101508-Alternative-C;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative C tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagtt GAATCGTTGGTT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAgaatcgttggttAGATCGAGACCCGACGC chr12:80101508-Alternative-C;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Reference G tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagtt AGCGGATTACGC CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAagcggattacgcAGATCGAGACCCGACGC chr12:80101508-Reference-G;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Reference G tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagtt GATAATCTGCGT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAgataatctgcgtAGATCGAGACCCGACGC chr12:80101508-Reference-G;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Variant A tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagtt AGCATAAGGTAC CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAagcataaggtacAGATCGAGACCCGACGC chr12:80101508-Variant-A;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Reference G tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagtt CGCTGTGTGCTT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAcgctgtgtgcttAGATCGAGACCCGACGC chr12:80101508-Reference-G;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Variant A tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagtt AATACGCTTCGA CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAaatacgcttcgaAGATCGAGACCCGACGC chr12:80101508-Variant-A;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative C tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagtt ACTAATACGCCT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAactaatacgcctAGATCGAGACCCGACGC chr12:80101508-Alternative-C;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Variant A tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagtt CGGACTCTATCG CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAcggactctatcgAGATCGAGACCCGACGC chr12:80101508-Variant-A;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative C tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagtt CGCGTTGTAGTC CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaCagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAcgcgttgtagtcAGATCGAGACCCGACGC chr12:80101508-Alternative-C;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Reference G tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagtt ATAGTATGCGCA CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAatagtatgcgcaAGATCGAGACCCGACGC chr12:80101508-Reference-G;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative T tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagtt CTTATGTGCGTT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAActtatgtgcgttAGATCGAGACCCGACGC chr12:80101508-Alternative-T;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative T tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagtt GGCTCAATAACT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAggctcaataactAGATCGAGACCCGACGC chr12:80101508-Alternative-T;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative T tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagtt CGTTCTTCAGCG CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAcgttcttcagcgAGATCGAGACCCGACGC chr12:80101508-Alternative-T;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Reference G tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagtt ACGCACTGTCCT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaGagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAacgcactgtcctAGATCGAGACCCGACGC chr12:80101508-Reference-G;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Variant A tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagtt GGTCAACAATGA CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAggtcaacaatgaAGATCGAGACCCGACGC chr12:80101508-Variant-A;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative T tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagtt AGAATTGCTGAG CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAagaattgctgagAGATCGAGACCCGACGC chr12:80101508-Alternative-T;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Variant A tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagtt GACCTGGTTCGA CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaAagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAgacctggttcgaAGATCGAGACCCGACGC chr12:80101508-Variant-A;Patient-94 chr12:80101508-GA DeNovo Patient-94 intergenic 0.000127 0.000512821 NA NA NA PAWR 16717 Alternative T tttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagtt GTTCTGCCGTGT CGACGCGGTCTCTCTCTtttgaccttcagtcttgcagcttcagaacttttgattttatccatttgaaTagcctattattgatggctcagggacacagttacattaatgttgacagttAGAGGGAGACGGACGTCTCAATAAgttctgccgtgtAGATCGAGACCCGACGC chr12:80101508-Alternative-T;Patient-94 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative T ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CGGCTGCGTAAT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcggctgcgtaatAGATCGAGACCCGACGC chr12:80237213-Alternative-T;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative A ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GTGAACAACGAT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgtgaacaacgatAGATCGAGACCCGACGC chr12:80237213-Alternative-A;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative A ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CGAACGGCTATA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcgaacggctataAGATCGAGACCCGACGC chr12:80237213-Alternative-A;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative A ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CGTGACGTACAC CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcgtgacgtacacAGATCGAGACCCGACGC chr12:80237213-Alternative-A;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative A ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg ACGTGATGACTT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAacgtgatgacttAGATCGAGACCCGACGC chr12:80237213-Alternative-A;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative T ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CGAGTCTCTTCG CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcgagtctcttcgAGATCGAGACCCGACGC chr12:80237213-Alternative-T;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Reference C ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GGTCATAATGCT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAggtcataatgctAGATCGAGACCCGACGC chr12:80237213-Reference-C;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Reference C ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg ATCGGCACCGTT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAatcggcaccgttAGATCGAGACCCGACGC chr12:80237213-Reference-C;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Reference C ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg AGCCACCGACAT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAagccaccgacatAGATCGAGACCCGACGC chr12:80237213-Reference-C;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative A ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CTAAGCGACTAT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagAcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAActaagcgactatAGATCGAGACCCGACGC chr12:80237213-Alternative-A;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative T ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GTGCGACCAGAA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgtgcgaccagaaAGATCGAGACCCGACGC chr12:80237213-Alternative-T;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative T ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg ATAGGCCATATC CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAataggccatatcAGATCGAGACCCGACGC chr12:80237213-Alternative-T;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Reference C ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GGTCGCGTAACT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAggtcgcgtaactAGATCGAGACCCGACGC chr12:80237213-Reference-C;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Variant G ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GTGTAATTCTGG CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgtgtaattctggAGATCGAGACCCGACGC chr12:80237213-Variant-G;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Reference C ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg ATCGGACTTCTA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagCcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAatcggacttctaAGATCGAGACCCGACGC chr12:80237213-Reference-C;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Variant G ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CAACGTCGCGAA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcaacgtcgcgaaAGATCGAGACCCGACGC chr12:80237213-Variant-G;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Variant G ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg GTCTCTAGGCGA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAgtctctaggcgaAGATCGAGACCCGACGC chr12:80237213-Variant-G;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Alternative T ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg AGCATCCAATCA CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagTcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAagcatccaatcaAGATCGAGACCCGACGC chr12:80237213-Alternative-T;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Variant G ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg AACTCTGAGGAC CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAaactctgaggacAGATCGAGACCCGACGC chr12:80237213-Variant-G;Patient-77 chr12:80237213-CG DeNovo Patient-77 intronic PPP1R12A 3.2e-05 4.95e-05 NA NA NA PPP1R12A 92021 Variant G ctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgagg CGCAGTATGCAT CGACGCGGTCTCTCTCTctggccaacacggtaaaaccccatctctactaaaaatacaaaaatattagGcaggcacggtggcaggcgcctgtaatcccagctactcgggaggctgaggAGAGGGAGACGGACGTCTCAATAAcgcagtatgcatAGATCGAGACCCGACGC chr12:80237213-Variant-G;Patient-77 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative C aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GCCACTAAGTCG CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAgccactaagtcgAGATCGAGACCCGACGC chr12:85641452-Alternative-C;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative C aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat AAGTGGCATAAC CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAaagtggcataacAGATCGAGACCCGACGC chr12:85641452-Alternative-C;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative C aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GTTCGTGCGGTT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAgttcgtgcggttAGATCGAGACCCGACGC chr12:85641452-Alternative-C;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative C aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GCGATCAATGGT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAgcgatcaatggtAGATCGAGACCCGACGC chr12:85641452-Alternative-C;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative C aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ATACTTCGAGCA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattCtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAatacttcgagcaAGATCGAGACCCGACGC chr12:85641452-Alternative-C;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Reference A aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat AGCGTAACAGCT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAagcgtaacagctAGATCGAGACCCGACGC chr12:85641452-Reference-A;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Variant G aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GGAGTACTGAAT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAggagtactgaatAGATCGAGACCCGACGC chr12:85641452-Variant-G;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Variant G aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ACCGGTGTAATA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAaccggtgtaataAGATCGAGACCCGACGC chr12:85641452-Variant-G;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative T aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ACCAAGCGATGT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAaccaagcgatgtAGATCGAGACCCGACGC chr12:85641452-Alternative-T;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Variant G aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GCGATAATGCTT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAgcgataatgcttAGATCGAGACCCGACGC chr12:85641452-Variant-G;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative T aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat AGACGTTGCAAT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAagacgttgcaatAGATCGAGACCCGACGC chr12:85641452-Alternative-T;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Reference A aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat AGGTTCTGAGAA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAaggttctgagaaAGATCGAGACCCGACGC chr12:85641452-Reference-A;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Variant G aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat CAAGATAGCACA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAcaagatagcacaAGATCGAGACCCGACGC chr12:85641452-Variant-G;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative T aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GGCGGTGTCTTA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAggcggtgtcttaAGATCGAGACCCGACGC chr12:85641452-Alternative-T;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative T aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat CTTGCATATTCG CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAActtgcatattcgAGATCGAGACCCGACGC chr12:85641452-Alternative-T;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Alternative T aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ACGTAATCTGCA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattTtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAacgtaatctgcaAGATCGAGACCCGACGC chr12:85641452-Alternative-T;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Variant G aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat GTCAGATATCGA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattGtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAgtcagatatcgaAGATCGAGACCCGACGC chr12:85641452-Variant-G;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Reference A aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat CACAACCAAGTT CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAcacaaccaagttAGATCGAGACCCGACGC chr12:85641452-Reference-A;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Reference A aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ACTTCCTGACTA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAacttcctgactaAGATCGAGACCCGACGC chr12:85641452-Reference-A;Patient-9 chr12:85641452-AG DeNovo Patient-9 intergenic NA 6.28e-05 -0.31 0.34 -2.36 ALX1 32583 Reference A aaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtat ATCCGATGAACA CGACGCGGTCTCTCTCTaaattgagtaaaaatatacataaagcatatgatatattgccttgggtattAtagggtcctaaagaatagtacctgttgtcttcactgtttcttgttgtatAGAGGGAGACGGACGTCTCAATAAatccgatgaacaAGATCGAGACCCGACGC chr12:85641452-Reference-A;Patient-9 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Variant G tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CGGTAGTCGCAT CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcggtagtcgcatAGATCGAGACCCGACGC chr12:86284082-Variant-G;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Variant G tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CATAAGCGGCAG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcataagcggcagAGATCGAGACCCGACGC chr12:86284082-Variant-G;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative T tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CGATTCCGTACA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcgattccgtacaAGATCGAGACCCGACGC chr12:86284082-Alternative-T;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative T tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga ACAACCGGTGCA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAacaaccggtgcaAGATCGAGACCCGACGC chr12:86284082-Alternative-T;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Variant G tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga ATACCATCGACG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAataccatcgacgAGATCGAGACCCGACGC chr12:86284082-Variant-G;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative T tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga GATATCGTGCAG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAgatatcgtgcagAGATCGAGACCCGACGC chr12:86284082-Alternative-T;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative T tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CGAGACTGAATT CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcgagactgaattAGATCGAGACCCGACGC chr12:86284082-Alternative-T;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative T tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga ACTTAGCGCAAG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacTtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAacttagcgcaagAGATCGAGACCCGACGC chr12:86284082-Alternative-T;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Variant G tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga AGCTCGGTAAGG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAagctcggtaaggAGATCGAGACCCGACGC chr12:86284082-Variant-G;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Variant G tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga GTCGAATTATCG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacGtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAgtcgaattatcgAGATCGAGACCCGACGC chr12:86284082-Variant-G;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Reference A tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CAGATCGAACGC CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcagatcgaacgcAGATCGAGACCCGACGC chr12:86284082-Reference-A;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Reference A tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga GCAGCGTAGCTA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAgcagcgtagctaAGATCGAGACCCGACGC chr12:86284082-Reference-A;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Reference A tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga ACATATGCGCAG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAacatatgcgcagAGATCGAGACCCGACGC chr12:86284082-Reference-A;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Reference A tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CAACGAGAGCAA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcaacgagagcaaAGATCGAGACCCGACGC chr12:86284082-Reference-A;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Reference A tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CACGAGCAACAT CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacAtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcacgagcaacatAGATCGAGACCCGACGC chr12:86284082-Reference-A;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative C tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CGCGAACCTGTT CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcgcgaacctgttAGATCGAGACCCGACGC chr12:86284082-Alternative-C;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative C tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga GGTACCTTGACG CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAggtaccttgacgAGATCGAGACCCGACGC chr12:86284082-Alternative-C;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative C tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CGTGACTACTAA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcgtgactactaaAGATCGAGACCCGACGC chr12:86284082-Alternative-C;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative C tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga AGTTATCGCTGT CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAagttatcgctgtAGATCGAGACCCGACGC chr12:86284082-Alternative-C;Patient-91 chr12:86284082-AG Inherited Patient-91 intergenic NA 0.000513 -0.15 0.99 -1.1 NTS 16008 Alternative C tggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactga CAGCATGTAGAA CGACGCGGTCTCTCTCTtggaatactactcagccatgaaaacaatgaatcatgtgcttgcaagtaacCtgtgtggaactggagggcattatgttaagtaaaacaattcagaaactgaAGAGGGAGACGGACGTCTCAATAAcagcatgtagaaAGATCGAGACCCGACGC chr12:86284082-Alternative-C;Patient-91 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative T aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GTGAATCTCGCG CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAgtgaatctcgcgAGATCGAGACCCGACGC chr12:87273118-Alternative-T;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Reference C aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag AATCGCGTCTAA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAaatcgcgtctaaAGATCGAGACCCGACGC chr12:87273118-Reference-C;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Reference C aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag ACTCCGGAAGCA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAactccggaagcaAGATCGAGACCCGACGC chr12:87273118-Reference-C;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative T aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGAATCAACCTA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcgaatcaacctaAGATCGAGACCCGACGC chr12:87273118-Alternative-T;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative T aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGCTAACGCTGT CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcgctaacgctgtAGATCGAGACCCGACGC chr12:87273118-Alternative-T;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Variant A aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GGCCAACCTAAG CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAggccaacctaagAGATCGAGACCCGACGC chr12:87273118-Variant-A;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Variant A aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GCAGTTATTGCA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAgcagttattgcaAGATCGAGACCCGACGC chr12:87273118-Variant-A;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative T aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GGTGACGAGTAC CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAggtgacgagtacAGATCGAGACCCGACGC chr12:87273118-Alternative-T;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Reference C aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GACGTAACTAAC CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAgacgtaactaacAGATCGAGACCCGACGC chr12:87273118-Reference-C;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative G aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGGAACACGAGA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcggaacacgagaAGATCGAGACCCGACGC chr12:87273118-Alternative-G;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Reference C aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag AATAAGTGCGCA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAaataagtgcgcaAGATCGAGACCCGACGC chr12:87273118-Reference-C;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Reference C aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GTGCGGTCTAGT CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacCatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAgtgcggtctagtAGATCGAGACCCGACGC chr12:87273118-Reference-C;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative T aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGCCTAACTTAA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacTatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcgcctaacttaaAGATCGAGACCCGACGC chr12:87273118-Alternative-T;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative G aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGTACTCGGTCT CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcgtactcggtctAGATCGAGACCCGACGC chr12:87273118-Alternative-G;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative G aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag ACGCGCGACTAA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAacgcgcgactaaAGATCGAGACCCGACGC chr12:87273118-Alternative-G;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Variant A aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CTGGTAGCGAAC CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAActggtagcgaacAGATCGAGACCCGACGC chr12:87273118-Variant-A;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Variant A aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag ACATCGATAACG CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAacatcgataacgAGATCGAGACCCGACGC chr12:87273118-Variant-A;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative G aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag AAGACGGTCTAA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAaagacggtctaaAGATCGAGACCCGACGC chr12:87273118-Alternative-G;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Alternative G aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag GTTCATGTCCTA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacGatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAgttcatgtcctaAGATCGAGACCCGACGC chr12:87273118-Alternative-G;Patient-87 chr12:87273118-CA DeNovo Patient-87 intergenic NA 0.000513 -0.22 0.63 0.23 MGAT4C 40436 Variant A aaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacag CGGCAGCAGTAA CGACGCGGTCTCTCTCTaaatgtccatcaatgataggctggataaagaaaatgtggtgcatatacacAatggaatactatgcagtcataacaaagaacaagatcatgtccttcacagAGAGGGAGACGGACGTCTCAATAAcggcagcagtaaAGATCGAGACCCGACGC chr12:87273118-Variant-A;Patient-87 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Reference C tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc ATCGTAACCAGG CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAatcgtaaccaggAGATCGAGACCCGACGC chr12:88609758-Reference-C;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Reference C tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AGTCGAACTATC CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAagtcgaactatcAGATCGAGACCCGACGC chr12:88609758-Reference-C;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Variant T tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GCGGCTCGAATT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAgcggctcgaattAGATCGAGACCCGACGC chr12:88609758-Variant-T;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative A tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc CAACAAGCGTCT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAcaacaagcgtctAGATCGAGACCCGACGC chr12:88609758-Alternative-A;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative A tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc ACTGAATCGACC CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAactgaatcgaccAGATCGAGACCCGACGC chr12:88609758-Alternative-A;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Reference C tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GGCCGGTAGTAT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAggccggtagtatAGATCGAGACCCGACGC chr12:88609758-Reference-C;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Variant T tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc CATTACGTTCAC CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAcattacgttcacAGATCGAGACCCGACGC chr12:88609758-Variant-T;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Variant T tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GGATACTAGCGG CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAggatactagcggAGATCGAGACCCGACGC chr12:88609758-Variant-T;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Variant T tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GCATATACGGTT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAgcatatacggttAGATCGAGACCCGACGC chr12:88609758-Variant-T;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Reference C tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc CGAGCACAACGA CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAcgagcacaacgaAGATCGAGACCCGACGC chr12:88609758-Reference-C;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative A tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc ACGAGAAGCGAG CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAacgagaagcgagAGATCGAGACCCGACGC chr12:88609758-Alternative-A;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative G tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AAGTCTCGATCA CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAaagtctcgatcaAGATCGAGACCCGACGC chr12:88609758-Alternative-G;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Reference C tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AGTGCGCTCTGT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccCgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAagtgcgctctgtAGATCGAGACCCGACGC chr12:88609758-Reference-C;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative A tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GTGGCGTGTAGT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAgtggcgtgtagtAGATCGAGACCCGACGC chr12:88609758-Alternative-A;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative A tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AGACGGCTCGTT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccAgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAagacggctcgttAGATCGAGACCCGACGC chr12:88609758-Alternative-A;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative G tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AAGTGACTCCGC CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAaagtgactccgcAGATCGAGACCCGACGC chr12:88609758-Alternative-G;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative G tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc GTTCTAGGCCGT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAgttctaggccgtAGATCGAGACCCGACGC chr12:88609758-Alternative-G;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Variant T tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc ACCGAATTGTCA CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccTgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAaccgaattgtcaAGATCGAGACCCGACGC chr12:88609758-Variant-T;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative G tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc CTCTGAGTAGAT CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAActctgagtagatAGATCGAGACCCGACGC chr12:88609758-Alternative-G;Patient-8 chr12:88609758-CT DeNovo Patient-8 intergenic NA 0.000512821 0.04 3.3 0 CEP290 73764 Alternative G tctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagcc AGCAGTCAACGG CGACGCGGTCTCTCTCTtctgtagtcccagctactagggaggcagaggcaggagaattgcttgaaccGgggaggtggaggttgcagtgagccaagattgtgccactgaacttcagccAGAGGGAGACGGACGTCTCAATAAagcagtcaacggAGATCGAGACCCGACGC chr12:88609758-Alternative-G;Patient-8 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Reference A gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAAGCAATCACG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcaagcaatcacgAGATCGAGACCCGACGC chr12:89043588-Reference-A;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Reference A gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct GCGTCTGAACAG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAgcgtctgaacagAGATCGAGACCCGACGC chr12:89043588-Reference-A;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative T gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAACCTAATACG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcaacctaatacgAGATCGAGACCCGACGC chr12:89043588-Alternative-T;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Reference A gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAGCAACAAGAT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcagcaacaagatAGATCGAGACCCGACGC chr12:89043588-Reference-A;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Variant G gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CGGCTAATCACG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcggctaatcacgAGATCGAGACCCGACGC chr12:89043588-Variant-G;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Variant G gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct AACTCCTTGGTT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAaactccttggttAGATCGAGACCCGACGC chr12:89043588-Variant-G;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Variant G gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAGATAGCAGGT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcagatagcaggtAGATCGAGACCCGACGC chr12:89043588-Variant-G;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Variant G gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CGCACTTAACCG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcgcacttaaccgAGATCGAGACCCGACGC chr12:89043588-Variant-G;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative T gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct GTGGCTACGTAC CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAgtggctacgtacAGATCGAGACCCGACGC chr12:89043588-Alternative-T;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative T gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CGATGTGCCGAA CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcgatgtgccgaaAGATCGAGACCCGACGC chr12:89043588-Alternative-T;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Variant G gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CGGTAACGCGAT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacGagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcggtaacgcgatAGATCGAGACCCGACGC chr12:89043588-Variant-G;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative T gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct ATCAATTGCGAG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAatcaattgcgagAGATCGAGACCCGACGC chr12:89043588-Alternative-T;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative T gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct GCGTACAGACTT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacTagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAgcgtacagacttAGATCGAGACCCGACGC chr12:89043588-Alternative-T;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Reference A gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAGCTATCGCCT CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcagctatcgcctAGATCGAGACCCGACGC chr12:89043588-Reference-A;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Reference A gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CGATCCAATAAC CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacAagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcgatccaataacAGATCGAGACCCGACGC chr12:89043588-Reference-A;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative C gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct CAATTGACCGAC CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAcaattgaccgacAGATCGAGACCCGACGC chr12:89043588-Alternative-C;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative C gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct ACCACATCAAGG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAaccacatcaaggAGATCGAGACCCGACGC chr12:89043588-Alternative-C;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative C gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct AGACTGACACCG CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAagactgacaccgAGATCGAGACCCGACGC chr12:89043588-Alternative-C;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative C gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct AAGTGCCGAATA CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAaagtgccgaataAGATCGAGACCCGACGC chr12:89043588-Alternative-C;Patient-60 chr12:89043588-AG Inherited Patient-60 intergenic NA 0.000513 NA NA NA KITLG 69337 Alternative C gtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtct AGACTGTAACGC CGACGCGGTCTCTCTCTgtaaatacaatcactgagcttacttaaactgcaacatgctgaaaattaacCagtgaatgaagggccttgtttcagaataggatcccttactagtgtgtctAGAGGGAGACGGACGTCTCAATAAagactgtaacgcAGATCGAGACCCGACGC chr12:89043588-Alternative-C;Patient-60 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative T gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTACTAGGCCGA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtactaggccgaAGATCGAGACCCGACGC chr12:8999210-Alternative-T;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Variant A gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTGTACATCTTC CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtgtacatcttcAGATCGAGACCCGACGC chr12:8999210-Variant-A;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Variant A gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GAGTAACCGAAC CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgagtaaccgaacAGATCGAGACCCGACGC chr12:8999210-Variant-A;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Reference G gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt AGACGCGACATT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAagacgcgacattAGATCGAGACCCGACGC chr12:8999210-Reference-G;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative T gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CGATTAAGGCAA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgattaaggcaaAGATCGAGACCCGACGC chr12:8999210-Alternative-T;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Reference G gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CTCGCGACCTAT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAActcgcgacctatAGATCGAGACCCGACGC chr12:8999210-Reference-G;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Variant A gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GACGATATGAGT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgacgatatgagtAGATCGAGACCCGACGC chr12:8999210-Variant-A;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative T gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CGCGTGTGGTAT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgcgtgtggtatAGATCGAGACCCGACGC chr12:8999210-Alternative-T;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Reference G gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTAGTGACGGAA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtagtgacggaaAGATCGAGACCCGACGC chr12:8999210-Reference-G;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative T gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTGATCGGCGTT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtgatcggcgttAGATCGAGACCCGACGC chr12:8999210-Alternative-T;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Reference G gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CGATGAATGGTT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgatgaatggttAGATCGAGACCCGACGC chr12:8999210-Reference-G;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative C gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CAGCGGATCTGT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcagcggatctgtAGATCGAGACCCGACGC chr12:8999210-Alternative-C;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative T gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CTACGATTCGAT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaTttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAActacgattcgatAGATCGAGACCCGACGC chr12:8999210-Alternative-T;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Variant A gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GCGGCTTAAGTC CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgcggcttaagtcAGATCGAGACCCGACGC chr12:8999210-Variant-A;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Reference G gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTCTCGCTGCAT CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaGttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtctcgctgcatAGATCGAGACCCGACGC chr12:8999210-Reference-G;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Variant A gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CGTATCCTAGAA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaAttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgtatcctagaaAGATCGAGACCCGACGC chr12:8999210-Variant-A;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative C gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GAGAGCAGTAGG CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgagagcagtaggAGATCGAGACCCGACGC chr12:8999210-Alternative-C;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative C gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt GTGACTCGGTCA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtgactcggtcaAGATCGAGACCCGACGC chr12:8999210-Alternative-C;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative C gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt CTGGTTGTCGTC CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAActggttgtcgtcAGATCGAGACCCGACGC chr12:8999210-Alternative-C;Patient-92 chr12:8999210-GA Inherited Patient-92 intronic A2ML1 NA 0.000247 -0.4 0.19 -0.45 A2ML1 24141 Alternative C gtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaatt AACACGCGATAA CGACGCGGTCTCTCTCTgtgtgcagcactttgggaggccgaggtgggtggatcacctgatgctaggaCttcaagaccagcctggtgaaaccgtgtctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAaacacgcgataaAGATCGAGACCCGACGC chr12:8999210-Alternative-C;Patient-92 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative T ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CGGTAGATCCAT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcggtagatccatAGATCGAGACCCGACGC chr12:9060474-Alternative-T;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Variant A ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATCATGGCGCGA CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAatcatggcgcgaAGATCGAGACCCGACGC chr12:9060474-Variant-A;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative T ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AACGCATTCCGT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaacgcattccgtAGATCGAGACCCGACGC chr12:9060474-Alternative-T;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative T ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GCGGCAACTAGA CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcggcaactagaAGATCGAGACCCGACGC chr12:9060474-Alternative-T;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Variant A ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACTCTGATTACG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAactctgattacgAGATCGAGACCCGACGC chr12:9060474-Variant-A;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative T ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACAGAGGTACAG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacagaggtacagAGATCGAGACCCGACGC chr12:9060474-Alternative-T;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Variant A ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AGCAGTAAGAAG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagcagtaagaagAGATCGAGACCCGACGC chr12:9060474-Variant-A;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative T ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATTGCACGTACC CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAattgcacgtaccAGATCGAGACCCGACGC chr12:9060474-Alternative-T;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Variant A ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CGTACGTTATCG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgtacgttatcgAGATCGAGACCCGACGC chr12:9060474-Variant-A;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Reference G ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACAGCGTTAAGA CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacagcgttaagaAGATCGAGACCCGACGC chr12:9060474-Reference-G;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Reference G ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATTGGATAGTGG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAattggatagtggAGATCGAGACCCGACGC chr12:9060474-Reference-G;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Reference G ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CTAGAGGTTGTT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActagaggttgttAGATCGAGACCCGACGC chr12:9060474-Reference-G;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Reference G ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GGCTTAATGACT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAggcttaatgactAGATCGAGACCCGACGC chr12:9060474-Reference-G;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative C ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CTATGAGTCGGC CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActatgagtcggcAGATCGAGACCCGACGC chr12:9060474-Alternative-C;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Reference G ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AATCTGCAACCA CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaatctgcaaccaAGATCGAGACCCGACGC chr12:9060474-Reference-G;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Variant A ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GTGTAGCATTGT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtgtagcattgtAGATCGAGACCCGACGC chr12:9060474-Variant-A;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative C ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACATGTTCGGAA CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacatgttcggaaAGATCGAGACCCGACGC chr12:9060474-Alternative-C;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative C ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACCGTATTCCGG CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaccgtattccggAGATCGAGACCCGACGC chr12:9060474-Alternative-C;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative C ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GGAAGACATGGT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAggaagacatggtAGATCGAGACCCGACGC chr12:9060474-Alternative-C;Patient-66 chr12:9060474-GA DeNovo Patient-66 intergenic NA 0.000513 -0.37 0.23 0 PHC1 6841 Alternative C ctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GGAACACCTATT CGACGCGGTCTCTCTCTctcctgcctcagcctcccgagtaactgggatcacaggcatgaacaaccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAggaacacctattAGATCGAGACCCGACGC chr12:9060474-Alternative-C;Patient-66 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative T ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat AACCGTAACAAG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAaaccgtaacaagAGATCGAGACCCGACGC chr12:91500717-Alternative-T;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative T ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat ACCAATTCGTCC CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAaccaattcgtccAGATCGAGACCCGACGC chr12:91500717-Alternative-T;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative T ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat AGGTGCGACGAT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAaggtgcgacgatAGATCGAGACCCGACGC chr12:91500717-Alternative-T;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative T ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GAGAGTACTCGG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAgagagtactcggAGATCGAGACCCGACGC chr12:91500717-Alternative-T;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Reference G ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat CGCCAGTTGAAC CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAcgccagttgaacAGATCGAGACCCGACGC chr12:91500717-Reference-G;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Reference G ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat CACGCTAGTTGT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAcacgctagttgtAGATCGAGACCCGACGC chr12:91500717-Reference-G;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative T ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GTCGAAGGATAT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaTgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAgtcgaaggatatAGATCGAGACCCGACGC chr12:91500717-Alternative-T;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Reference G ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GGCTCTTAGACG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAggctcttagacgAGATCGAGACCCGACGC chr12:91500717-Reference-G;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Reference G ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat CGTCGTATTCGC CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAcgtcgtattcgcAGATCGAGACCCGACGC chr12:91500717-Reference-G;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Variant A ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat ATCTGTCGCGCA CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAatctgtcgcgcaAGATCGAGACCCGACGC chr12:91500717-Variant-A;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative C ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat ATTCCGGTTAGA CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAattccggttagaAGATCGAGACCCGACGC chr12:91500717-Alternative-C;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Variant A ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat CGTAACATTCGA CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAcgtaacattcgaAGATCGAGACCCGACGC chr12:91500717-Variant-A;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Variant A ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GATATAGCAGGT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAgatatagcaggtAGATCGAGACCCGACGC chr12:91500717-Variant-A;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Variant A ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat AGTACGCGTAAT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAagtacgcgtaatAGATCGAGACCCGACGC chr12:91500717-Variant-A;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Reference G ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat ATAGCTGCGTCG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaGgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAatagctgcgtcgAGATCGAGACCCGACGC chr12:91500717-Reference-G;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative C ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat AACAACTAGCGT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAaacaactagcgtAGATCGAGACCCGACGC chr12:91500717-Alternative-C;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative C ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat CGAAGAATGCGG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAcgaagaatgcggAGATCGAGACCCGACGC chr12:91500717-Alternative-C;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative C ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat AGACCACGGTCT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAagaccacggtctAGATCGAGACCCGACGC chr12:91500717-Alternative-C;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Variant A ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GATCGAACACCG CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaAgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAgatcgaacaccgAGATCGAGACCCGACGC chr12:91500717-Variant-A;Patient-40 chr12:91500717-GA DeNovo Patient-40 intronic LUM 6.4e-05 4.95e-05 -0.04 2.06 0.24 LUM 4824 Alternative C ggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacat GCAAGTTGACTT CGACGCGGTCTCTCTCTggccaggcacagtggctcacgcctgtaatcccagtactttgggaggccaaCgcagatggatcagttgaggtcaggattttaagaacagcctggttaacatAGAGGGAGACGGACGTCTCAATAAgcaagttgacttAGATCGAGACCCGACGC chr12:91500717-Alternative-C;Patient-40 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Reference G gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaa GGATCATGGTGG CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAggatcatggtggAGATCGAGACCCGACGC chr12:91506496-Reference-G;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Reference G gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaa ACTCTTAGGAGT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAactcttaggagtAGATCGAGACCCGACGC chr12:91506496-Reference-G;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative T gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaa CACGATAATCGT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAcacgataatcgtAGATCGAGACCCGACGC chr12:91506496-Alternative-T;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Reference G gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaa AAGACTGCCGGT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAaagactgccggtAGATCGAGACCCGACGC chr12:91506496-Reference-G;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative T gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaa GTTAGATCGGAA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgttagatcggaaAGATCGAGACCCGACGC chr12:91506496-Alternative-T;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative C gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaa GCGTGTAACGAG CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgcgtgtaacgagAGATCGAGACCCGACGC chr12:91506496-Alternative-C;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative C gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaa CGAGTGTTCTAA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAcgagtgttctaaAGATCGAGACCCGACGC chr12:91506496-Alternative-C;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Reference G gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaa GATTCACCGATA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgattcaccgataAGATCGAGACCCGACGC chr12:91506496-Reference-G;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative T gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaa ACTGCGTTCGCT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAactgcgttcgctAGATCGAGACCCGACGC chr12:91506496-Alternative-T;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative T gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaa CAAGGAACACGT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAcaaggaacacgtAGATCGAGACCCGACGC chr12:91506496-Alternative-T;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative T gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaa CATAAGCGAACG CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattTtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAcataagcgaacgAGATCGAGACCCGACGC chr12:91506496-Alternative-T;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Reference G gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaa ACCACGTTCCTA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattGtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAaccacgttcctaAGATCGAGACCCGACGC chr12:91506496-Reference-G;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Variant A gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaa AACACCGAGTAA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAaacaccgagtaaAGATCGAGACCCGACGC chr12:91506496-Variant-A;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Variant A gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaa CGCGTAATAACA CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAcgcgtaataacaAGATCGAGACCCGACGC chr12:91506496-Variant-A;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative C gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaa GTGAATCCGACC CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgtgaatccgaccAGATCGAGACCCGACGC chr12:91506496-Alternative-C;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative C gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaa ATTGTAACAGCG CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAattgtaacagcgAGATCGAGACCCGACGC chr12:91506496-Alternative-C;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Alternative C gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaa GTTACGTTCGTT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattCtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgttacgttcgttAGATCGAGACCCGACGC chr12:91506496-Alternative-C;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Variant A gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaa GTCGAATATGAG CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAgtcgaatatgagAGATCGAGACCCGACGC chr12:91506496-Variant-A;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Variant A gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaa ACGAGCAAGAGT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAacgagcaagagtAGATCGAGACCCGACGC chr12:91506496-Variant-A;Patient-12 chr12:91506496-GA DeNovo Patient-12 intergenic 3.2e-05 0.000512821 NA NA NA DCN 70309 Variant A gcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaa GGAGTCGGAACT CGACGCGGTCTCTCTCTgcagtgttcaaaaacaaaaagtaatcttcttgaaagtaactaatggaattAtaagatgattcataaacataacatttttcctaatattattttaagaaaaAGAGGGAGACGGACGTCTCAATAAggagtcggaactAGATCGAGACCCGACGC chr12:91506496-Variant-A;Patient-12 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative G tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta AGGCGTCTAATT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAaggcgtctaattAGATCGAGACCCGACGC chr12:91655652-Alternative-G;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative G tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGGCTAGCCTAA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcggctagcctaaAGATCGAGACCCGACGC chr12:91655652-Alternative-G;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative G tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGCCACTCTAGT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcgccactctagtAGATCGAGACCCGACGC chr12:91655652-Alternative-G;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Variant T tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta AGACCTAAGACA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAagacctaagacaAGATCGAGACCCGACGC chr12:91655652-Variant-T;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Variant T tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGTCAACACATA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcgtcaacacataAGATCGAGACCCGACGC chr12:91655652-Variant-T;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative G tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta AATGTCCTAGGT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAaatgtcctaggtAGATCGAGACCCGACGC chr12:91655652-Alternative-G;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Variant T tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta AAGTTATTCGGC CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAaagttattcggcAGATCGAGACCCGACGC chr12:91655652-Variant-T;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative G tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta AGATAGGAGTCA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaGtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAagataggagtcaAGATCGAGACCCGACGC chr12:91655652-Alternative-G;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Variant T tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGTATCGTACGG CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcgtatcgtacggAGATCGAGACCCGACGC chr12:91655652-Variant-T;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Reference C tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGGAGAGCTAGA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcggagagctagaAGATCGAGACCCGACGC chr12:91655652-Reference-C;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Variant T tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta GGAATTGCCGCT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaTtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAggaattgccgctAGATCGAGACCCGACGC chr12:91655652-Variant-T;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Reference C tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta GTAACATCTGAC CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAgtaacatctgacAGATCGAGACCCGACGC chr12:91655652-Reference-C;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative A tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CAACGACACAGG CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcaacgacacaggAGATCGAGACCCGACGC chr12:91655652-Alternative-A;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Reference C tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta ACCTAACAAGGT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAacctaacaaggtAGATCGAGACCCGACGC chr12:91655652-Reference-C;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative A tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta GCGAACATTCTA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAgcgaacattctaAGATCGAGACCCGACGC chr12:91655652-Alternative-A;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative A tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta GCGATACACGAT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAgcgatacacgatAGATCGAGACCCGACGC chr12:91655652-Alternative-A;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Reference C tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta ACGCTATGGTTA CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAacgctatggttaAGATCGAGACCCGACGC chr12:91655652-Reference-C;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Reference C tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta ATTCGCTGGCGT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaCtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAattcgctggcgtAGATCGAGACCCGACGC chr12:91655652-Reference-C;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative A tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta GTCGAACTGCGT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAgtcgaactgcgtAGATCGAGACCCGACGC chr12:91655652-Alternative-A;Patient-27 chr12:91655652-CT DeNovo Patient-27 intergenic 9.6e-05 0.000513 0.41 8.52 0.37 DCN 78845 Alternative A tgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgta CGGAGATACTAT CGACGCGGTCTCTCTCTtgatcagctactgagcccttctgacaatctacttggcaagtcaagcagaaAtcagcttataatgaggagttgcagagacacagtcacttggtaccatgtaAGAGGGAGACGGACGTCTCAATAAcggagatactatAGATCGAGACCCGACGC chr12:91655652-Alternative-A;Patient-27 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Variant A tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CGTCTAATCGAA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAcgtctaatcgaaAGATCGAGACCCGACGC chr12:94536425-Variant-A;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative C tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CGACACTAGCTA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAcgacactagctaAGATCGAGACCCGACGC chr12:94536425-Alternative-C;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative C tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac GTCTCGTTCTGG CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAgtctcgttctggAGATCGAGACCCGACGC chr12:94536425-Alternative-C;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative C tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CAGCAGCAGCAA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAcagcagcagcaaAGATCGAGACCCGACGC chr12:94536425-Alternative-C;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Variant A tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ATTACTCACGTC CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAattactcacgtcAGATCGAGACCCGACGC chr12:94536425-Variant-A;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative C tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac AATCGCATCCGC CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAaatcgcatccgcAGATCGAGACCCGACGC chr12:94536425-Alternative-C;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Variant A tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac AACCAACCTGAG CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAaaccaacctgagAGATCGAGACCCGACGC chr12:94536425-Variant-A;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative C tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CGCTAGTATGCA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttCgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAcgctagtatgcaAGATCGAGACCCGACGC chr12:94536425-Alternative-C;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Variant A tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ACACCGCGAGTT CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAacaccgcgagttAGATCGAGACCCGACGC chr12:94536425-Variant-A;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Reference G tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CTGTGGCGTAAC CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAActgtggcgtaacAGATCGAGACCCGACGC chr12:94536425-Reference-G;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative T tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ATACGGCAAGAT CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAatacggcaagatAGATCGAGACCCGACGC chr12:94536425-Alternative-T;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Reference G tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ATACGTGCGGAC CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAatacgtgcggacAGATCGAGACCCGACGC chr12:94536425-Reference-G;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Variant A tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ACGTATAGCAGA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttAgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAacgtatagcagaAGATCGAGACCCGACGC chr12:94536425-Variant-A;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative T tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CACGACGGTACT CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAcacgacggtactAGATCGAGACCCGACGC chr12:94536425-Alternative-T;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative T tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac AACAACTCCGGC CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAaacaactccggcAGATCGAGACCCGACGC chr12:94536425-Alternative-T;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Reference G tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ACCTTCAATCCT CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAaccttcaatcctAGATCGAGACCCGACGC chr12:94536425-Reference-G;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative T tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac AGCGCAACCTGA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAagcgcaacctgaAGATCGAGACCCGACGC chr12:94536425-Alternative-T;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Alternative T tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac CTAATTCGCAGA CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttTgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAActaattcgcagaAGATCGAGACCCGACGC chr12:94536425-Alternative-T;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Reference G tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac GCGTAGTCTGAG CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAgcgtagtctgagAGATCGAGACCCGACGC chr12:94536425-Reference-G;Patient-55 chr12:94536425-GA Inherited Patient-55 intergenic NA 0.000513 0.29 7.06 3.27 PLXNC1 6073 Reference G tgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacac ACAATAGCTACG CGACGCGGTCTCTCTCTtgaatgtacaggtttaaacatcatttggggtcacctctagatccatgtttGgaggtagattggtttgttagttatgattctggcaggaaacaggtgacacAGAGGGAGACGGACGTCTCAATAAacaatagctacgAGATCGAGACCCGACGC chr12:94536425-Reference-G;Patient-55 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative C tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac CAGCGACGTTGT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAcagcgacgttgtAGATCGAGACCCGACGC chr12:95998505-Alternative-C;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative C tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GATGTGAGGATT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgatgtgaggattAGATCGAGACCCGACGC chr12:95998505-Alternative-C;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative C tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac ACTGCGCAATAT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAactgcgcaatatAGATCGAGACCCGACGC chr12:95998505-Alternative-C;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Variant A tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GCAGGACGTCAA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgcaggacgtcaaAGATCGAGACCCGACGC chr12:95998505-Variant-A;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative C tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GGACGATTCCAA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAggacgattccaaAGATCGAGACCCGACGC chr12:95998505-Alternative-C;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative T tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac AGCCGGTTAATA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAagccggttaataAGATCGAGACCCGACGC chr12:95998505-Alternative-T;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative C tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac AGCATGCATGTT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgCctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAagcatgcatgttAGATCGAGACCCGACGC chr12:95998505-Alternative-C;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative T tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac CGAGAAGCTTAA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAcgagaagcttaaAGATCGAGACCCGACGC chr12:95998505-Alternative-T;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative T tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac ACGCGTAGAATA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAacgcgtagaataAGATCGAGACCCGACGC chr12:95998505-Alternative-T;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative T tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac ACGACTTATACG CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAacgacttatacgAGATCGAGACCCGACGC chr12:95998505-Alternative-T;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Variant A tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GTGTTAGGTCGC CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgtgttaggtcgcAGATCGAGACCCGACGC chr12:95998505-Variant-A;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Variant A tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GTACGTAACGTT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgtacgtaacgttAGATCGAGACCCGACGC chr12:95998505-Variant-A;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Alternative T tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac AGAACCGATTGA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgTctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAagaaccgattgaAGATCGAGACCCGACGC chr12:95998505-Alternative-T;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Variant A tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GTATCACGGTCG CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgtatcacggtcgAGATCGAGACCCGACGC chr12:95998505-Variant-A;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Reference G tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac ACATCACAATCG CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAacatcacaatcgAGATCGAGACCCGACGC chr12:95998505-Reference-G;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Variant A tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac AGGCTCGCTGAT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgActcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAaggctcgctgatAGATCGAGACCCGACGC chr12:95998505-Variant-A;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Reference G tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac CACAATAAGGAC CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAcacaataaggacAGATCGAGACCCGACGC chr12:95998505-Reference-G;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Reference G tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac AGAATATGCGGT CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAagaatatgcggtAGATCGAGACCCGACGC chr12:95998505-Reference-G;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Reference G tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac GTTACGCAACTA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAgttacgcaactaAGATCGAGACCCGACGC chr12:95998505-Reference-G;Patient-37 chr12:95998505-GA DeNovo Patient-37 intergenic 0.000223 0.00205 0.15 5.02 0.46 USP44 53241 Reference G tgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcac CAACTCATACGA CGACGCGGTCTCTCTCTtgtgcaactcaaactgactttaaaaatgaggaagtctgccaggcgcagtgGctcacgcctgtaatcccagcactttgggaggccaaggcgggcagatcacAGAGGGAGACGGACGTCTCAATAAcaactcatacgaAGATCGAGACCCGACGC chr12:95998505-Reference-G;Patient-37 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Reference G tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGATATGCTTCT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgatatgcttctAGATCGAGACCCGACGC chr12:96523400-Reference-G;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Reference G tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatct AACAGGCTGACC CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAaacaggctgaccAGATCGAGACCCGACGC chr12:96523400-Reference-G;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative T tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatct ACGCAGTATCAT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAacgcagtatcatAGATCGAGACCCGACGC chr12:96523400-Alternative-T;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Reference G tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatct AGCGTGCTATAT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAagcgtgctatatAGATCGAGACCCGACGC chr12:96523400-Reference-G;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative T tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatct GAGATCTCGACG CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAgagatctcgacgAGATCGAGACCCGACGC chr12:96523400-Alternative-T;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Reference G tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGTTGTGAAGTT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgttgtgaagttAGATCGAGACCCGACGC chr12:96523400-Reference-G;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative T tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatct AGAGCAGGTGAT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAagagcaggtgatAGATCGAGACCCGACGC chr12:96523400-Alternative-T;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Variant A tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGTGCTCGTTGT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgtgctcgttgtAGATCGAGACCCGACGC chr12:96523400-Variant-A;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Variant A tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatct GAGATCCGAGCA CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAgagatccgagcaAGATCGAGACCCGACGC chr12:96523400-Variant-A;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Variant A tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatct ATTCGCTTCCGA CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAattcgcttccgaAGATCGAGACCCGACGC chr12:96523400-Variant-A;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Variant A tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGCTATGCTTCG CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgctatgcttcgAGATCGAGACCCGACGC chr12:96523400-Variant-A;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative T tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatct AGTAGCTACCGA CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAagtagctaccgaAGATCGAGACCCGACGC chr12:96523400-Alternative-T;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Reference G tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatct GCGCGTCACTAT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttGttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAgcgcgtcactatAGATCGAGACCCGACGC chr12:96523400-Reference-G;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative C tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CAACCTTATCGC CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcaaccttatcgcAGATCGAGACCCGACGC chr12:96523400-Alternative-C;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Variant A tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGCAAGCATAAT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttAttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgcaagcataatAGATCGAGACCCGACGC chr12:96523400-Variant-A;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative C tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatct AGTACCACGTAA CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAagtaccacgtaaAGATCGAGACCCGACGC chr12:96523400-Alternative-C;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative C tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatct GTGACTCTTGTT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAgtgactcttgttAGATCGAGACCCGACGC chr12:96523400-Alternative-C;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative T tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatct GGCTAACAACGC CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttTttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAggctaacaacgcAGATCGAGACCCGACGC chr12:96523400-Alternative-T;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative C tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatct CGACAGCCAATC CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAcgacagccaatcAGATCGAGACCCGACGC chr12:96523400-Alternative-C;Patient-7 chr12:96523400-GA DeNovo Patient-7 intergenic NA 0.000513 -0.42 0.16 -6.45 ELK3 64806 Alternative C tattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatct ATCCGACGAATT CGACGCGGTCTCTCTCTtattaatgcagatggtagttcccttgtgcagctttaaaaaactgttccttCttttccaccagccttcagagcttcaccctgctgggcggactcaccatctAGAGGGAGACGGACGTCTCAATAAatccgacgaattAGATCGAGACCCGACGC chr12:96523400-Alternative-C;Patient-7 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Variant C atttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgattttta ACATCTTGCGAT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAacatcttgcgatAGATCGAGACCCGACGC chr12:96847681-Variant-C;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Variant C atttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgattttta AGGCGAATTCTT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAaggcgaattcttAGATCGAGACCCGACGC chr12:96847681-Variant-C;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative A atttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgattttta AACACAACAGGT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAaacacaacaggtAGATCGAGACCCGACGC chr12:96847681-Alternative-A;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative A atttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgattttta AGCTGAAGGCAA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAagctgaaggcaaAGATCGAGACCCGACGC chr12:96847681-Alternative-A;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Variant C atttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgattttta CGTCGTGTAATA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAcgtcgtgtaataAGATCGAGACCCGACGC chr12:96847681-Variant-C;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative G atttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgattttta AGTGTATCACCA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAagtgtatcaccaAGATCGAGACCCGACGC chr12:96847681-Alternative-G;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative G atttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgattttta ACGTAAGCAACA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAacgtaagcaacaAGATCGAGACCCGACGC chr12:96847681-Alternative-G;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative A atttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgattttta AAGACGCAATCA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAaagacgcaatcaAGATCGAGACCCGACGC chr12:96847681-Alternative-A;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Reference T atttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgattttta AGCGTAACAACA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAagcgtaacaacaAGATCGAGACCCGACGC chr12:96847681-Reference-T;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative A atttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgattttta ACCGCTCAATAA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAaccgctcaataaAGATCGAGACCCGACGC chr12:96847681-Alternative-A;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Variant C atttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgattttta GGCGATCGCATT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAggcgatcgcattAGATCGAGACCCGACGC chr12:96847681-Variant-C;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Reference T atttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgattttta GCAGCACATGCT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAgcagcacatgctAGATCGAGACCCGACGC chr12:96847681-Reference-T;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Variant C atttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgattttta CATCGCACTATA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataCatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAcatcgcactataAGATCGAGACCCGACGC chr12:96847681-Variant-C;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative G atttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgattttta GGTCGATACCGT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAggtcgataccgtAGATCGAGACCCGACGC chr12:96847681-Alternative-G;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative A atttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgattttta CATTAGACGCGC CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataAatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAcattagacgcgcAGATCGAGACCCGACGC chr12:96847681-Alternative-A;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative G atttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgattttta GTCAGAATTGCA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAgtcagaattgcaAGATCGAGACCCGACGC chr12:96847681-Alternative-G;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Reference T atttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgattttta GTGTTACGGTAT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAgtgttacggtatAGATCGAGACCCGACGC chr12:96847681-Reference-T;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Reference T atttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgattttta GAGAGTTGGCGA CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAgagagttggcgaAGATCGAGACCCGACGC chr12:96847681-Reference-T;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Alternative G atttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgattttta ATCCGTGTAGCG CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataGatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAatccgtgtagcgAGATCGAGACCCGACGC chr12:96847681-Alternative-G;Patient-84 chr12:96847681-TC DeNovo Patient-84 intergenic 0.000392 0.000513 -0.07 1.69 0 CDK17 53314 Reference T atttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgattttta ACTCAAGTGCTT CGACGCGGTCTCTCTCTatttgttgagttcctacttaatatgctagatatatatatatatatatataTatatatatatatatatatatatatatatatttagttaaaatgatttttaAGAGGGAGACGGACGTCTCAATAAactcaagtgcttAGATCGAGACCCGACGC chr12:96847681-Reference-T;Patient-84 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Reference A gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GGTGACTAGTAA CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAggtgactagtaaAGATCGAGACCCGACGC chr12:97326235-Reference-A;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative G gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt CGGCTAGCTTGT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAcggctagcttgtAGATCGAGACCCGACGC chr12:97326235-Alternative-G;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Reference A gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt AGGCCGATTCGT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAaggccgattcgtAGATCGAGACCCGACGC chr12:97326235-Reference-A;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Variant T gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt ATAACACGATGG CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAataacacgatggAGATCGAGACCCGACGC chr12:97326235-Variant-T;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Variant T gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GAGCATGGCGAA CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgagcatggcgaaAGATCGAGACCCGACGC chr12:97326235-Variant-T;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Variant T gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GTACACTCGTCT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgtacactcgtctAGATCGAGACCCGACGC chr12:97326235-Variant-T;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Variant T gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GTTGGCTGTGCA CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgttggctgtgcaAGATCGAGACCCGACGC chr12:97326235-Variant-T;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Reference A gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt CACGGTCAAGAT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAcacggtcaagatAGATCGAGACCCGACGC chr12:97326235-Reference-A;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Variant T gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GAGCCTTAGTCG CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaTaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgagccttagtcgAGATCGAGACCCGACGC chr12:97326235-Variant-T;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Reference A gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt CAGACGGAGTCT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAcagacggagtctAGATCGAGACCCGACGC chr12:97326235-Reference-A;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative G gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt ATTGCGATGGAA CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAattgcgatggaaAGATCGAGACCCGACGC chr12:97326235-Alternative-G;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative G gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GATCCGGCTTGT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgatccggcttgtAGATCGAGACCCGACGC chr12:97326235-Alternative-G;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative C gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt CAGGACGATAAT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAcaggacgataatAGATCGAGACCCGACGC chr12:97326235-Alternative-C;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative C gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt AGGCTCTATAAG CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAaggctctataagAGATCGAGACCCGACGC chr12:97326235-Alternative-C;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative G gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt ATCGCGTAGCGT CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAatcgcgtagcgtAGATCGAGACCCGACGC chr12:97326235-Alternative-G;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Reference A gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt AACGACGCGTAC CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaAaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAaacgacgcgtacAGATCGAGACCCGACGC chr12:97326235-Reference-A;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative G gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt GCGATAGTACAC CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaGaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAgcgatagtacacAGATCGAGACCCGACGC chr12:97326235-Alternative-G;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative C gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt AAGTTCACCGAC CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAaagttcaccgacAGATCGAGACCCGACGC chr12:97326235-Alternative-C;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative C gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt CTGTGCAGTAAC CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAActgtgcagtaacAGATCGAGACCCGACGC chr12:97326235-Alternative-C;Patient-55 chr12:97326235-AT Inherited Patient-55 intronic NEDD1 NA 0.000148471 -0.02 2.31 0.55 NEDD1 25233 Alternative C gaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagt AGCGTGTAGTAA CGACGCGGTCTCTCTCTgaccagcctgggcaaaatggcaaaatcctgtctcttaaaaaaaaaaaaaaCaaaaaaatatatatatatatatatatatataaaatgcacacacacaagtAGAGGGAGACGGACGTCTCAATAAagcgtgtagtaaAGATCGAGACCCGACGC chr12:97326235-Alternative-C;Patient-55 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative C cctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GGACGGTAACGT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAggacggtaacgtAGATCGAGACCCGACGC chr12:994758-Alternative-C;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative C cctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GTTGTTCACCGC CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgttgttcaccgcAGATCGAGACCCGACGC chr12:994758-Alternative-C;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative C cctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CTCGGTTACGAG CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAActcggttacgagAGATCGAGACCCGACGC chr12:994758-Alternative-C;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative C cctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GACTAATCAACC CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgactaatcaaccAGATCGAGACCCGACGC chr12:994758-Alternative-C;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative C cctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CTAAGATGCGAT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaCgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAActaagatgcgatAGATCGAGACCCGACGC chr12:994758-Alternative-C;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Variant G cctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GTATACTCGTCA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgtatactcgtcaAGATCGAGACCCGACGC chr12:994758-Variant-G;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative T cctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg ACGTGGCTAATA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAacgtggctaataAGATCGAGACCCGACGC chr12:994758-Alternative-T;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Variant G cctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CTGCATGATCGA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAActgcatgatcgaAGATCGAGACCCGACGC chr12:994758-Variant-G;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Variant G cctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GTACGTTCGGAC CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgtacgttcggacAGATCGAGACCCGACGC chr12:994758-Variant-G;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Variant G cctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GACGACTAAGCG CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgacgactaagcgAGATCGAGACCCGACGC chr12:994758-Variant-G;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Reference A cctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CGAGACATAGCT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAcgagacatagctAGATCGAGACCCGACGC chr12:994758-Reference-A;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Variant G cctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg ATACGTGCTTCT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaGgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAatacgtgcttctAGATCGAGACCCGACGC chr12:994758-Variant-G;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative T cctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg ACGCTCATAGCG CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAacgctcatagcgAGATCGAGACCCGACGC chr12:994758-Alternative-T;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative T cctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GTTGATGCTACA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgttgatgctacaAGATCGAGACCCGACGC chr12:994758-Alternative-T;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Reference A cctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CTCTATGCCTAT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAActctatgcctatAGATCGAGACCCGACGC chr12:994758-Reference-A;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Reference A cctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GATCGTCGAATT CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgatcgtcgaattAGATCGAGACCCGACGC chr12:994758-Reference-A;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Reference A cctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CGGTCGTTGATA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAcggtcgttgataAGATCGAGACCCGACGC chr12:994758-Reference-A;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative T cctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg CGGCGTCATAAG CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAcggcgtcataagAGATCGAGACCCGACGC chr12:994758-Alternative-T;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Alternative T cctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg ATAGCGATTCCA CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaTgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAatagcgattccaAGATCGAGACCCGACGC chr12:994758-Alternative-T;Patient-105 chr12:994758-AG DeNovo Patient-105 synonymous WNK1 3.9e-05 9.44e-05 0.46 8.99 -2.78 RAD52 64104 Reference A cctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctg GCGCTACGAATC CGACGCGGTCTCTCTCTcctattcttccccaagcagcaggacctacttctacacctttattaccccaAgtacctagtatcccacccttggtacagcctgttgccaatgtgcctgctgAGAGGGAGACGGACGTCTCAATAAgcgctacgaatcAGATCGAGACCCGACGC chr12:994758-Reference-A;Patient-105 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Variant C agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACGGTGGTCACT CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAacggtggtcactAGATCGAGACCCGACGC chr13:100677452-Variant-C;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Variant C agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtatttt AGCTTCTGTTCA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAagcttctgttcaAGATCGAGACCCGACGC chr13:100677452-Variant-C;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Variant C agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtatttt CGAGTAACGGCA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAcgagtaacggcaAGATCGAGACCCGACGC chr13:100677452-Variant-C;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Variant C agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACCATTACCGGC CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAaccattaccggcAGATCGAGACCCGACGC chr13:100677452-Variant-C;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Variant C agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACCGGTTCTAGT CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaCctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAaccggttctagtAGATCGAGACCCGACGC chr13:100677452-Variant-C;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Reference G agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtatttt CTAGGCGTATAT CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAActaggcgtatatAGATCGAGACCCGACGC chr13:100677452-Reference-G;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative A agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtatttt CTACGTCCGAAC CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAActacgtccgaacAGATCGAGACCCGACGC chr13:100677452-Alternative-A;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Reference G agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtatttt CTCATAACTGAG CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAActcataactgagAGATCGAGACCCGACGC chr13:100677452-Reference-G;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative A agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtatttt AGTTGGCATTCA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAagttggcattcaAGATCGAGACCCGACGC chr13:100677452-Alternative-A;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative A agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtatttt GGTGGATGGCTA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAggtggatggctaAGATCGAGACCCGACGC chr13:100677452-Alternative-A;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative T agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtatttt AACGTGTCGTCG CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAaacgtgtcgtcgAGATCGAGACCCGACGC chr13:100677452-Alternative-T;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative A agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtatttt AACTATGCGGAA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAaactatgcggaaAGATCGAGACCCGACGC chr13:100677452-Alternative-A;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Reference G agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACGGTCCGACAT CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAacggtccgacatAGATCGAGACCCGACGC chr13:100677452-Reference-G;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative T agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtatttt GGTGAACGTACG CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAggtgaacgtacgAGATCGAGACCCGACGC chr13:100677452-Alternative-T;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative T agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACTCTTGGCTTA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAactcttggcttaAGATCGAGACCCGACGC chr13:100677452-Alternative-T;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative A agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtatttt GTACAATAACGG CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaActgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAgtacaataacggAGATCGAGACCCGACGC chr13:100677452-Alternative-A;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Reference G agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtatttt CTGTTCCGACGT CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAActgttccgacgtAGATCGAGACCCGACGC chr13:100677452-Reference-G;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative T agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ACTGCTGTTATC CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAactgctgttatcAGATCGAGACCCGACGC chr13:100677452-Alternative-T;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Alternative T agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtatttt ATTGGATCGAAC CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaTctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAAattggatcgaacAGATCGAGACCCGACGC chr13:100677452-Alternative-T;Patient-62 chr13:100677452-GC DeNovo Patient-62 intergenic 0.000748 0.000513 -0.1 1.4 0 ZIC2 43425 Reference G agctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtatttt CTGTCATTGACA CGACGCGGTCTCTCTCTagctccgcctcccgggttcacgccattctcctgcctcagcctcccaagtaGctgggactacaggcgcccgccactacgcccggctaattttttgtattttAGAGGGAGACGGACGTCTCAATAActgtcattgacaAGATCGAGACCCGACGC chr13:100677452-Reference-G;Patient-62 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative G ccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GGTCTTGACCGA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAggtcttgaccgaAGATCGAGACCCGACGC chr13:100753865-Alternative-G;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative G ccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc AACGAACGCGAC CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAaacgaacgcgacAGATCGAGACCCGACGC chr13:100753865-Alternative-G;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Variant T ccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc CGGAGCTCACTT CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcggagctcacttAGATCGAGACCCGACGC chr13:100753865-Variant-T;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative G ccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GGATAGTTGCTT CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAggatagttgcttAGATCGAGACCCGACGC chr13:100753865-Alternative-G;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Variant T ccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc CTAGGTCGGACA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAActaggtcggacaAGATCGAGACCCGACGC chr13:100753865-Variant-T;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Variant T ccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc AGCCGATTAAGA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAagccgattaagaAGATCGAGACCCGACGC chr13:100753865-Variant-T;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative G ccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc CGAGCTCTAGCT CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcgagctctagctAGATCGAGACCCGACGC chr13:100753865-Alternative-G;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Reference A ccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GGTAACGGTACT CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAggtaacggtactAGATCGAGACCCGACGC chr13:100753865-Reference-A;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Reference A ccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GTAAGTTAACCG CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgtaagttaaccgAGATCGAGACCCGACGC chr13:100753865-Reference-A;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative G ccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GTGAACGTATCA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaGttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgtgaacgtatcaAGATCGAGACCCGACGC chr13:100753865-Alternative-G;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Variant T ccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc CTCTCTTGAAGG CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAActctcttgaaggAGATCGAGACCCGACGC chr13:100753865-Variant-T;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative C ccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GCAATCTGTGCG CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgcaatctgtgcgAGATCGAGACCCGACGC chr13:100753865-Alternative-C;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative C ccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc AACTTCGTCAAG CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAaacttcgtcaagAGATCGAGACCCGACGC chr13:100753865-Alternative-C;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative C ccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc ATCTTGGCGTTA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAatcttggcgttaAGATCGAGACCCGACGC chr13:100753865-Alternative-C;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Reference A ccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GTTAGCGTAACA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgttagcgtaacaAGATCGAGACCCGACGC chr13:100753865-Reference-A;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative C ccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc ACTTGAACGACT CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAacttgaacgactAGATCGAGACCCGACGC chr13:100753865-Alternative-C;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Alternative C ccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GTCGATTGTCAA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaCttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgtcgattgtcaaAGATCGAGACCCGACGC chr13:100753865-Alternative-C;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Reference A ccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GACTATACCTGA CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgactatacctgaAGATCGAGACCCGACGC chr13:100753865-Reference-A;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Reference A ccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc GTTACTAAGTCG CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaAttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgttactaagtcgAGATCGAGACCCGACGC chr13:100753865-Reference-A;Patient-32 chr13:100753865-AT DeNovo Patient-32 intronic PCCA 3.2e-05 0.000126 -0.02 2.28 0.5 PCCA 12595 Variant T ccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggc CGGAGTACCTTC CGACGCGGTCTCTCTCTccacttttatacagagattacattttttaaattaattaaataattaattaTttttttctgaggagtttcgctcttgttgcccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcggagtaccttcAGATCGAGACCCGACGC chr13:100753865-Variant-T;Patient-32 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative G tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa AAGACGCTAGAA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAaagacgctagaaAGATCGAGACCCGACGC chr13:106027215-Alternative-G;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative G tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CGCACTATGACT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAcgcactatgactAGATCGAGACCCGACGC chr13:106027215-Alternative-G;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Reference C tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa AAGCAATCCGGC CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAaagcaatccggcAGATCGAGACCCGACGC chr13:106027215-Reference-C;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative G tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa AGTCGCCTTAGG CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAagtcgccttaggAGATCGAGACCCGACGC chr13:106027215-Alternative-G;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative A tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa GAGGTGGATTCG CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAgaggtggattcgAGATCGAGACCCGACGC chr13:106027215-Alternative-A;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Reference C tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa GCATTGAGTCGA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAgcattgagtcgaAGATCGAGACCCGACGC chr13:106027215-Reference-C;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative G tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa GACGACGACTGA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAgacgacgactgaAGATCGAGACCCGACGC chr13:106027215-Alternative-G;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Reference C tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CTTGACTACGTT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAActtgactacgttAGATCGAGACCCGACGC chr13:106027215-Reference-C;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative A tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa GTACCGTAAGTT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAgtaccgtaagttAGATCGAGACCCGACGC chr13:106027215-Alternative-A;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Reference C tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa AGTGACTACGAA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAagtgactacgaaAGATCGAGACCCGACGC chr13:106027215-Reference-C;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Variant T tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa GTATCGCTCGTC CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAgtatcgctcgtcAGATCGAGACCCGACGC chr13:106027215-Variant-T;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative A tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CGTAGCTTGATA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAcgtagcttgataAGATCGAGACCCGACGC chr13:106027215-Alternative-A;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Reference C tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa ATTGCAGTCAAG CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagCgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAattgcagtcaagAGATCGAGACCCGACGC chr13:106027215-Reference-C;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Variant T tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa AGAACGATAGTC CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAagaacgatagtcAGATCGAGACCCGACGC chr13:106027215-Variant-T;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative A tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CAAGCATATGCT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAcaagcatatgctAGATCGAGACCCGACGC chr13:106027215-Alternative-A;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative A tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa ACTATGAACGCT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagAgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAactatgaacgctAGATCGAGACCCGACGC chr13:106027215-Alternative-A;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Alternative G tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CTCGCAACATAA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagGgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAActcgcaacataaAGATCGAGACCCGACGC chr13:106027215-Alternative-G;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Variant T tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa ACCTTCGTCGGT CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAaccttcgtcggtAGATCGAGACCCGACGC chr13:106027215-Variant-T;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Variant T tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa CTAGCTCACCGA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAActagctcaccgaAGATCGAGACCCGACGC chr13:106027215-Variant-T;Patient-79 chr13:106027215-CT DeNovo Patient-79 intergenic 0.00035 0.001025641 -0.36 0.25 -2.33 DAOA 91000 Variant T tctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaa ACTTGTTCCGAA CGACGCGGTCTCTCTCTtctccatgaaggtgcagtcaagtctcagctttatggtgggatggattcagTgggtcatgggtcagctgttgtccaaaactgtctggaatgaaataaggaaAGAGGGAGACGGACGTCTCAATAAacttgttccgaaAGATCGAGACCCGACGC chr13:106027215-Variant-T;Patient-79 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative C aaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttattttt CGTGTAATTCGA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAcgtgtaattcgaAGATCGAGACCCGACGC chr13:106183655-Alternative-C;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative C aaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttattttt ACTCTCTAGTAC CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAactctctagtacAGATCGAGACCCGACGC chr13:106183655-Alternative-C;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative C aaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttattttt CGAGCATAGATA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAcgagcatagataAGATCGAGACCCGACGC chr13:106183655-Alternative-C;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Reference A aaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttattttt GGCTGATCAACC CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAggctgatcaaccAGATCGAGACCCGACGC chr13:106183655-Reference-A;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Reference A aaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttattttt CATCACACCGTC CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAcatcacaccgtcAGATCGAGACCCGACGC chr13:106183655-Reference-A;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative C aaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttattttt GCCGAACGATCA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgccgaacgatcaAGATCGAGACCCGACGC chr13:106183655-Alternative-C;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Reference A aaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttattttt AGATAGGTGGAA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAagataggtggaaAGATCGAGACCCGACGC chr13:106183655-Reference-A;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative T aaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttattttt ATTGTGGTCGAT CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAattgtggtcgatAGATCGAGACCCGACGC chr13:106183655-Alternative-T;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative C aaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttattttt AGATCGGAGATA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgCtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAagatcggagataAGATCGAGACCCGACGC chr13:106183655-Alternative-C;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Variant G aaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttattttt ACACTATGACGG CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAacactatgacggAGATCGAGACCCGACGC chr13:106183655-Variant-G;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative T aaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttattttt GATTACCGTAAC CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgattaccgtaacAGATCGAGACCCGACGC chr13:106183655-Alternative-T;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Reference A aaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttattttt GTGATCCGGAAC CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgtgatccggaacAGATCGAGACCCGACGC chr13:106183655-Reference-A;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Variant G aaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttattttt CGCGATAGTAGG CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAcgcgatagtaggAGATCGAGACCCGACGC chr13:106183655-Variant-G;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative T aaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttattttt GTTGGTTCGCGA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgttggttcgcgaAGATCGAGACCCGACGC chr13:106183655-Alternative-T;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative T aaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttattttt AATCTCGATCCT CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAaatctcgatcctAGATCGAGACCCGACGC chr13:106183655-Alternative-T;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Variant G aaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttattttt CTATAGCCTGCG CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAActatagcctgcgAGATCGAGACCCGACGC chr13:106183655-Variant-G;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Variant G aaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttattttt CATAGTGGCTAA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAcatagtggctaaAGATCGAGACCCGACGC chr13:106183655-Variant-G;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Variant G aaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttattttt ACGTCGGCAATT CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgGtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAacgtcggcaattAGATCGAGACCCGACGC chr13:106183655-Variant-G;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Reference A aaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttattttt GCAGAACACAAT CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgAtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgcagaacacaatAGATCGAGACCCGACGC chr13:106183655-Reference-A;Patient-82 chr13:106183655-AG DeNovo Patient-82 intergenic NA 0.000513 -0.59 0.05 -6.19 DAOA 65438 Alternative T aaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttattttt GTGCGACGTATA CGACGCGGTCTCTCTCTaaactgattataaacagttgtttagcactagggacatggtaaatggagtgTtaagtagcatttaggaaggatctttagctattttatttattttatttttAGAGGGAGACGGACGTCTCAATAAgtgcgacgtataAGATCGAGACCCGACGC chr13:106183655-Alternative-T;Patient-82 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative C actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GCGGCCATATAC CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgcggccatatacAGATCGAGACCCGACGC chr13:108826949-Alternative-C;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Variant T actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta CGTATGTGACTA CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAcgtatgtgactaAGATCGAGACCCGACGC chr13:108826949-Variant-T;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Variant T actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GGTAGTTAGAAG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAggtagttagaagAGATCGAGACCCGACGC chr13:108826949-Variant-T;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative C actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GCGGCGTAACAT CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgcggcgtaacatAGATCGAGACCCGACGC chr13:108826949-Alternative-C;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Reference G actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta CGTTGGAACTAT CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAcgttggaactatAGATCGAGACCCGACGC chr13:108826949-Reference-G;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Reference G actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GACAACGATCGG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgacaacgatcggAGATCGAGACCCGACGC chr13:108826949-Reference-G;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative A actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta AGGTTGTGTAAG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAaggttgtgtaagAGATCGAGACCCGACGC chr13:108826949-Alternative-A;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Variant T actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta AGATCCGACGAG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAagatccgacgagAGATCGAGACCCGACGC chr13:108826949-Variant-T;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Reference G actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta ACGGCTTAGACT CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAacggcttagactAGATCGAGACCCGACGC chr13:108826949-Reference-G;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative A actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GCGTTCACAACG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgcgttcacaacgAGATCGAGACCCGACGC chr13:108826949-Alternative-A;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative C actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GTCTAGGCCGAA CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgtctaggccgaaAGATCGAGACCCGACGC chr13:108826949-Alternative-C;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Variant T actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta CTGGTGATATAC CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAActggtgatatacAGATCGAGACCCGACGC chr13:108826949-Variant-T;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Variant T actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GATACAGAACAC CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgTtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgatacagaacacAGATCGAGACCCGACGC chr13:108826949-Variant-T;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative C actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta ACGTAGTCACTA CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAacgtagtcactaAGATCGAGACCCGACGC chr13:108826949-Alternative-C;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative A actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta CAGTTGGAACGG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAcagttggaacggAGATCGAGACCCGACGC chr13:108826949-Alternative-A;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Reference G actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta ACCTAGTCGTAA CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAacctagtcgtaaAGATCGAGACCCGACGC chr13:108826949-Reference-G;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative A actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta AGAACCGTCAGA CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAagaaccgtcagaAGATCGAGACCCGACGC chr13:108826949-Alternative-A;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Reference G actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GGCGCAATTAAG CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgGtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAggcgcaattaagAGATCGAGACCCGACGC chr13:108826949-Reference-G;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative A actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GTCATAGCCTAT CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgAtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAgtcatagcctatAGATCGAGACCCGACGC chr13:108826949-Alternative-A;Patient-37 chr13:108826949-GT Inherited Patient-37 intergenic 0.000127 0.000513 -0.04 2.07 0.1 LIG4 43766 Alternative C actccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgta GGCTAGGTTCGT CGACGCGGTCTCTCTCTactccagtcagaatggctattacttaaaagtcaggaaacaacagatgctgCtgaggttgtggagaaaagggaactcttatacactgctgatgggagtgtaAGAGGGAGACGGACGTCTCAATAAggctaggttcgtAGATCGAGACCCGACGC chr13:108826949-Alternative-C;Patient-37 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Variant G tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GATACAATACGC CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgatacaatacgcAGATCGAGACCCGACGC chr13:108832442-Variant-G;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Variant G tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ATTATACTGCGG CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAattatactgcggAGATCGAGACCCGACGC chr13:108832442-Variant-G;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Reference A tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ACACGACGTATC CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAacacgacgtatcAGATCGAGACCCGACGC chr13:108832442-Reference-A;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative C tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GTCTCGAGTACG CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgtctcgagtacgAGATCGAGACCCGACGC chr13:108832442-Alternative-C;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Reference A tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CTTGTCCGACAC CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAActtgtccgacacAGATCGAGACCCGACGC chr13:108832442-Reference-A;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative C tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CTAGTACACCAC CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAActagtacaccacAGATCGAGACCCGACGC chr13:108832442-Alternative-C;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Variant G tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ACGCATATAGTC CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAacgcatatagtcAGATCGAGACCCGACGC chr13:108832442-Variant-G;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative T tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CTAGCGCCTGAA CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAActagcgcctgaaAGATCGAGACCCGACGC chr13:108832442-Alternative-T;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Variant G tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GTGCTTCGAGGT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgtgcttcgaggtAGATCGAGACCCGACGC chr13:108832442-Variant-G;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative T tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GAGATGGTCGCA CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgagatggtcgcaAGATCGAGACCCGACGC chr13:108832442-Alternative-T;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative T tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CATGTCGTCGGT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAcatgtcgtcggtAGATCGAGACCCGACGC chr13:108832442-Alternative-T;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Reference A tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ACTCCGGATAAT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAactccggataatAGATCGAGACCCGACGC chr13:108832442-Reference-A;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative C tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CGAGAGTATCTT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAcgagagtatcttAGATCGAGACCCGACGC chr13:108832442-Alternative-C;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Variant G tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GCGTTCATGCCT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagGttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgcgttcatgcctAGATCGAGACCCGACGC chr13:108832442-Variant-G;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative T tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct AACGCTCGACCA CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAaacgctcgaccaAGATCGAGACCCGACGC chr13:108832442-Alternative-T;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Reference A tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct GACCTCCAACTT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAgacctccaacttAGATCGAGACCCGACGC chr13:108832442-Reference-A;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative T tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct CAAGACCGTCGT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagTttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAcaagaccgtcgtAGATCGAGACCCGACGC chr13:108832442-Alternative-T;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Reference A tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ACAATTGGCGAA CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagAttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAacaattggcgaaAGATCGAGACCCGACGC chr13:108832442-Reference-A;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative C tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct AACGCGCGCTAA CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAaacgcgcgctaaAGATCGAGACCCGACGC chr13:108832442-Alternative-C;Patient-77 chr13:108832442-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA LIG4 38273 Alternative C tctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgct ATCGCACATACT CGACGCGGTCTCTCTCTtctttggattcacccaagacctaggattagcaaggaaaaggaaagtttagCttatcataaaaatgtcatcaacatttctaggagtatttttaaaactgctAGAGGGAGACGGACGTCTCAATAAatcgcacatactAGATCGAGACCCGACGC chr13:108832442-Alternative-C;Patient-77 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative C tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGATAAGTGCCG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagataagtgccgAGATCGAGACCCGACGC chr13:110376653-Alternative-C;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative C tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CAGGACACATTC CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAcaggacacattcAGATCGAGACCCGACGC chr13:110376653-Alternative-C;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative C tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta ACTGGTGTGATA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAactggtgtgataAGATCGAGACCCGACGC chr13:110376653-Alternative-C;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative C tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGCGCAACAACT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagcgcaacaactAGATCGAGACCCGACGC chr13:110376653-Alternative-C;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Reference G tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CGTCGTAAGTTA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAcgtcgtaagttaAGATCGAGACCCGACGC chr13:110376653-Reference-G;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Reference G tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGCTGTAACAAG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagctgtaacaagAGATCGAGACCCGACGC chr13:110376653-Reference-G;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Reference G tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta ATCGTTCGTACT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAatcgttcgtactAGATCGAGACCCGACGC chr13:110376653-Reference-G;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative T tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta ACGCCTGAGACA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAacgcctgagacaAGATCGAGACCCGACGC chr13:110376653-Alternative-T;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative T tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGTTGGACGACG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagttggacgacgAGATCGAGACCCGACGC chr13:110376653-Alternative-T;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative C tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta GACTGATCCTGG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagCgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAgactgatcctggAGATCGAGACCCGACGC chr13:110376653-Alternative-C;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative T tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CTAACTGGTAGG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAActaactggtaggAGATCGAGACCCGACGC chr13:110376653-Alternative-T;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Variant A tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta GTCGCGGTTAGT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAgtcgcggttagtAGATCGAGACCCGACGC chr13:110376653-Variant-A;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative T tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CTAATACGGCTA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAActaatacggctaAGATCGAGACCCGACGC chr13:110376653-Alternative-T;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Variant A tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGCGTTCATTCT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagcgttcattctAGATCGAGACCCGACGC chr13:110376653-Variant-A;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Reference G tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta GACTGTACGCCT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAgactgtacgcctAGATCGAGACCCGACGC chr13:110376653-Reference-G;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Reference G tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CTGGTCTATACT CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagGgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAActggtctatactAGATCGAGACCCGACGC chr13:110376653-Reference-G;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Variant A tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta GTTGTGCACACG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAgttgtgcacacgAGATCGAGACCCGACGC chr13:110376653-Variant-A;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Variant A tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta CTATCGTTACGA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAActatcgttacgaAGATCGAGACCCGACGC chr13:110376653-Variant-A;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Alternative T tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AACTCTATCAGG CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagTgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAaactctatcaggAGATCGAGACCCGACGC chr13:110376653-Alternative-T;Patient-81 chr13:110376653-GA DeNovo Patient-81 intergenic 6.4e-05 0.00103 0.02 2.86 0.77 IRS2 62260 Variant A tgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgta AGTAGCCGCGAA CGACGCGGTCTCTCTCTtgttgacttcattaagggacaatcacagaattgcagggaagtccacgtagAgccccccaaactgcgattgcttttagcttttataaaccattaaaatgtaAGAGGGAGACGGACGTCTCAATAAagtagccgcgaaAGATCGAGACCCGACGC chr13:110376653-Variant-A;Patient-81 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative A ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGTGCGTTGTTC CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgtgcgttgttcAGATCGAGACCCGACGC chr13:110386747-Alternative-A;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Variant C ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GTAGCGGTCAGT CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgtagcggtcagtAGATCGAGACCCGACGC chr13:110386747-Variant-C;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Variant C ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GCACCATCAGAT CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgcaccatcagatAGATCGAGACCCGACGC chr13:110386747-Variant-C;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Variant C ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggcca ATTCTCGTAAGG CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAattctcgtaaggAGATCGAGACCCGACGC chr13:110386747-Variant-C;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Variant C ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggcca AGTTGGACGCAG CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAagttggacgcagAGATCGAGACCCGACGC chr13:110386747-Variant-C;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative A ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGTGTCTTCTGG CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgtgtcttctggAGATCGAGACCCGACGC chr13:110386747-Alternative-A;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative T ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGGAGATAATGA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcggagataatgaAGATCGAGACCCGACGC chr13:110386747-Alternative-T;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Reference G ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGAAGGATGATT CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgaaggatgattAGATCGAGACCCGACGC chr13:110386747-Reference-G;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Reference G ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGTCGTTAGCCA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgtcgttagccaAGATCGAGACCCGACGC chr13:110386747-Reference-G;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Reference G ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGAAGCTCCGAT CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgaagctccgatAGATCGAGACCCGACGC chr13:110386747-Reference-G;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Variant C ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GATTCCAAGGCA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttCacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgattccaaggcaAGATCGAGACCCGACGC chr13:110386747-Variant-C;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative A ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CTTAGGTACCTT CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAActtaggtaccttAGATCGAGACCCGACGC chr13:110386747-Alternative-A;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Reference G ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GATGTGACGACG CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgatgtgacgacgAGATCGAGACCCGACGC chr13:110386747-Reference-G;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative T ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GTTCAAGATTCG CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgttcaagattcgAGATCGAGACCCGACGC chr13:110386747-Alternative-T;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Reference G ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GACGGTACCTAC CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttGacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgacggtacctacAGATCGAGACCCGACGC chr13:110386747-Reference-G;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative T ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggcca AGCGGAACGTAC CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAagcggaacgtacAGATCGAGACCCGACGC chr13:110386747-Alternative-T;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative A ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GCAGTAGAATCA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAgcagtagaatcaAGATCGAGACCCGACGC chr13:110386747-Alternative-A;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative T ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggcca GGATACGAATCA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAggatacgaatcaAGATCGAGACCCGACGC chr13:110386747-Alternative-T;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative T ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggcca AACTAAGGCCAA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttTacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAaactaaggccaaAGATCGAGACCCGACGC chr13:110386747-Alternative-T;Patient-41 chr13:110386747-GC DeNovo Patient-41 intergenic NA 0.000513 -0.32 0.33 -1.29 IRS2 52166 Alternative A ctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggcca CGCTCTCCATAA CGACGCGGTCTCTCTCTctggggcagggctctgctgtggggcggggtgctcagtttgggacagtgttAacacttttggagatcatcagccatcccagtaggtgactccaggaggccaAGAGGGAGACGGACGTCTCAATAAcgctctccataaAGATCGAGACCCGACGC chr13:110386747-Alternative-A;Patient-41 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Reference C ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagat ATAGCGGCAGGT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAatagcggcaggtAGATCGAGACCCGACGC chr13:110510858-Reference-C;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Reference C ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagat CTCTTGTTCCGG CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAActcttgttccggAGATCGAGACCCGACGC chr13:110510858-Reference-C;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Reference C ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AATGTCCATCGA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAaatgtccatcgaAGATCGAGACCCGACGC chr13:110510858-Reference-C;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative G ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AGCCGTCAACGA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAagccgtcaacgaAGATCGAGACCCGACGC chr13:110510858-Alternative-G;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative G ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagat ATTGATCGATGC CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAattgatcgatgcAGATCGAGACCCGACGC chr13:110510858-Alternative-G;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative G ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagat GATATCAGGAGT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAgatatcaggagtAGATCGAGACCCGACGC chr13:110510858-Alternative-G;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative G ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AATAGTACCGCG CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAaatagtaccgcgAGATCGAGACCCGACGC chr13:110510858-Alternative-G;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Reference C ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagat GTAACCTTCGTT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAgtaaccttcgttAGATCGAGACCCGACGC chr13:110510858-Reference-C;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Reference C ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagat GCAGTATAACGC CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataCacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAgcagtataacgcAGATCGAGACCCGACGC chr13:110510858-Reference-C;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Variant A ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagat ATACGCGCACCT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAatacgcgcacctAGATCGAGACCCGACGC chr13:110510858-Variant-A;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative G ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AACAAGAGCTGT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataGacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAaacaagagctgtAGATCGAGACCCGACGC chr13:110510858-Alternative-G;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Variant A ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagat CTCAATCGTAGA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAActcaatcgtagaAGATCGAGACCCGACGC chr13:110510858-Variant-A;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Variant A ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagat CGTTCCAGGAGT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAcgttccaggagtAGATCGAGACCCGACGC chr13:110510858-Variant-A;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative T ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AACGACCGGTCA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAaacgaccggtcaAGATCGAGACCCGACGC chr13:110510858-Alternative-T;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Variant A ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagat ACTCCGGCGATT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAactccggcgattAGATCGAGACCCGACGC chr13:110510858-Variant-A;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative T ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AGTGGCATCTAA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAagtggcatctaaAGATCGAGACCCGACGC chr13:110510858-Alternative-T;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative T ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagat ACTGGTCCGGTT CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAactggtccggttAGATCGAGACCCGACGC chr13:110510858-Alternative-T;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Variant A ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AACGAAGCAAGA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataAacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAaacgaagcaagaAGATCGAGACCCGACGC chr13:110510858-Variant-A;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative T ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagat GCGATGACCACA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAgcgatgaccacaAGATCGAGACCCGACGC chr13:110510858-Alternative-T;Patient-55 chr13:110510858-CA Inherited Patient-55 intergenic 0.000191 0.000513 -0.18 0.8 0.81 IRS2 71943 Alternative T ctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagat AGTCGTAACCTA CGACGCGGTCTCTCTCTctggaaatgtacctaaaggaattgaaagcaatgactcagatacctctataTacgtgttcaagggtattactcataagtgttcatcaataaatacatagatAGAGGGAGACGGACGTCTCAATAAagtcgtaacctaAGATCGAGACCCGACGC chr13:110510858-Alternative-T;Patient-55 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Reference G gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CGTTCATGCCAC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAcgttcatgccacAGATCGAGACCCGACGC chr13:111038284-Reference-G;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative T gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt ACTGTCGTGACG CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAactgtcgtgacgAGATCGAGACCCGACGC chr13:111038284-Alternative-T;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative T gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GGATACGAGACA CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAggatacgagacaAGATCGAGACCCGACGC chr13:111038284-Alternative-T;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Reference G gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GTCGATATGAGA CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAgtcgatatgagaAGATCGAGACCCGACGC chr13:111038284-Reference-G;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Reference G gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt AATACAATGCGC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAaatacaatgcgcAGATCGAGACCCGACGC chr13:111038284-Reference-G;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Variant A gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CGCGTTCGAGTT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAcgcgttcgagttAGATCGAGACCCGACGC chr13:111038284-Variant-A;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Reference G gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CAAGATTGACGC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAcaagattgacgcAGATCGAGACCCGACGC chr13:111038284-Reference-G;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative T gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CGCTGAAGAATA CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAcgctgaagaataAGATCGAGACCCGACGC chr13:111038284-Alternative-T;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Variant A gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt ATTGAACCGTAC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAattgaaccgtacAGATCGAGACCCGACGC chr13:111038284-Variant-A;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative C gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GGAAGACATCAT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAggaagacatcatAGATCGAGACCCGACGC chr13:111038284-Alternative-C;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative C gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt AGGACTCGACCT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAaggactcgacctAGATCGAGACCCGACGC chr13:111038284-Alternative-C;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative C gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GATTGATCGTGA CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAgattgatcgtgaAGATCGAGACCCGACGC chr13:111038284-Alternative-C;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Variant A gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CAGATAGACGGC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAcagatagacggcAGATCGAGACCCGACGC chr13:111038284-Variant-A;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Variant A gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt CTACCAACGAAT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAActaccaacgaatAGATCGAGACCCGACGC chr13:111038284-Variant-A;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Reference G gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GCGTCACGTAAC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcGtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAgcgtcacgtaacAGATCGAGACCCGACGC chr13:111038284-Reference-G;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative T gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GGATGCCGTAGT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAggatgccgtagtAGATCGAGACCCGACGC chr13:111038284-Alternative-T;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative C gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GCCTTAGACTAA CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAgccttagactaaAGATCGAGACCCGACGC chr13:111038284-Alternative-C;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Variant A gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt AGGTAAGCATGC CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcAtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAaggtaagcatgcAGATCGAGACCCGACGC chr13:111038284-Variant-A;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative T gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GCGTTCACAGCT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcTtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAgcgttcacagctAGATCGAGACCCGACGC chr13:111038284-Alternative-T;Patient-85 chr13:111038284-GA DeNovo Patient-85 intronic COL4A2 NA 0.000594 -0.11 1.28 -2.91 COL4A2 78669 Alternative C gcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgt GGTTGCGCTGTT CGACGCGGTCTCTCTCTgcgtgtggataggccgtggttacagcgtgtggatgggccgtggttacagcCtgtggatgggccgtggtcacagcgtgtggatgggccgtggtcacagcgtAGAGGGAGACGGACGTCTCAATAAggttgcgctgttAGATCGAGACCCGACGC chr13:111038284-Alternative-C;Patient-85 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative A gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CGGATAAGCGTC CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcggataagcgtcAGATCGAGACCCGACGC chr13:111052178-Alternative-A;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative A gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CTTAGCGTATCA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAActtagcgtatcaAGATCGAGACCCGACGC chr13:111052178-Alternative-A;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative A gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GCAGCTTAAGAA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAgcagcttaagaaAGATCGAGACCCGACGC chr13:111052178-Alternative-A;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative A gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga ACTCTTGGACTT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAactcttggacttAGATCGAGACCCGACGC chr13:111052178-Alternative-A;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative C gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GAGCAGGTTAAT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAgagcaggttaatAGATCGAGACCCGACGC chr13:111052178-Alternative-C;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Variant G gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CACGCTAACGTC CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcacgctaacgtcAGATCGAGACCCGACGC chr13:111052178-Variant-G;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative C gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CTACGATCCATA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAActacgatccataAGATCGAGACCCGACGC chr13:111052178-Alternative-C;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative A gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga AATCGCTAATCG CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttAgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAaatcgctaatcgAGATCGAGACCCGACGC chr13:111052178-Alternative-A;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Reference T gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GATGCAACGTAA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAgatgcaacgtaaAGATCGAGACCCGACGC chr13:111052178-Reference-T;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative C gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CGCTATACTCAT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcgctatactcatAGATCGAGACCCGACGC chr13:111052178-Alternative-C;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative C gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CGTAGACATGTT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcgtagacatgttAGATCGAGACCCGACGC chr13:111052178-Alternative-C;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Variant G gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GCGTACTAAGTT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAgcgtactaagttAGATCGAGACCCGACGC chr13:111052178-Variant-G;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Reference T gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GGTATGACTCGA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAggtatgactcgaAGATCGAGACCCGACGC chr13:111052178-Reference-T;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Reference T gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CGAGATGTATAC CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcgagatgtatacAGATCGAGACCCGACGC chr13:111052178-Reference-T;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Variant G gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga ACAGACGTCAAG CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAacagacgtcaagAGATCGAGACCCGACGC chr13:111052178-Variant-G;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Variant G gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga ATAGTTACCACG CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAatagttaccacgAGATCGAGACCCGACGC chr13:111052178-Variant-G;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Reference T gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga AACACTAGATGG CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAaacactagatggAGATCGAGACCCGACGC chr13:111052178-Reference-T;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Reference T gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga GAGTTATCGTGT CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttTgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAgagttatcgtgtAGATCGAGACCCGACGC chr13:111052178-Reference-T;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Alternative C gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga CGATAGGTAAGG CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttCgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAcgataggtaaggAGATCGAGACCCGACGC chr13:111052178-Alternative-C;Patient-88 chr13:111052178-TG DeNovo Patient-88 intronic COL4A2 NA 0.000148 -0.41 0.17 -6.24 COL4A2 92563 Variant G gcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctga AACACATAGCGA CGACGCGGTCTCTCTCTgcaggaatatgataggccacctgcttcttttaggggaaaacattctgtttGgagggtaagagaagatttgagtgaggtttgctttggtcatggcttctgaAGAGGGAGACGGACGTCTCAATAAaacacatagcgaAGATCGAGACCCGACGC chr13:111052178-Variant-G;Patient-88 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative C ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CTGTCGGAATAT CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAActgtcggaatatAGATCGAGACCCGACGC chr13:113220496-Alternative-C;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative C ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CAGTAACCGTCA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcagtaaccgtcaAGATCGAGACCCGACGC chr13:113220496-Alternative-C;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative G ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcac GTGTAGTCATCA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAgtgtagtcatcaAGATCGAGACCCGACGC chr13:113220496-Alternative-G;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative C ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CGTCACCTTCGA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcgtcaccttcgaAGATCGAGACCCGACGC chr13:113220496-Alternative-C;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Reference T ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcac ACTCCTTCGAAC CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAactccttcgaacAGATCGAGACCCGACGC chr13:113220496-Reference-T;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Reference T ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CTTAGTCGGCAG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAActtagtcggcagAGATCGAGACCCGACGC chr13:113220496-Reference-T;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Reference T ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CAGCATAGGTCG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcagcataggtcgAGATCGAGACCCGACGC chr13:113220496-Reference-T;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Variant A ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcac GGACGATAGCAA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAggacgatagcaaAGATCGAGACCCGACGC chr13:113220496-Variant-A;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Variant A ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcac ACCTCGATCGAT CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAacctcgatcgatAGATCGAGACCCGACGC chr13:113220496-Variant-A;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Variant A ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcac AACAAGCCGAAC CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAaacaagccgaacAGATCGAGACCCGACGC chr13:113220496-Variant-A;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative C ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CGTATAGGCTAA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcgtataggctaaAGATCGAGACCCGACGC chr13:113220496-Alternative-C;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Variant A ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CATCAGTTGCCG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcatcagttgccgAGATCGAGACCCGACGC chr13:113220496-Variant-A;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative G ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CGTTCACGCATC CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcgttcacgcatcAGATCGAGACCCGACGC chr13:113220496-Alternative-G;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Variant A ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcac ATAGACAAGTCG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccAgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAatagacaagtcgAGATCGAGACCCGACGC chr13:113220496-Variant-A;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative G ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CGACGTGGAACA CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcgacgtggaacaAGATCGAGACCCGACGC chr13:113220496-Alternative-G;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative C ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcac CGCGTGTACCTT CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccCgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAcgcgtgtaccttAGATCGAGACCCGACGC chr13:113220496-Alternative-C;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative G ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcac AGTGACGCACGT CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAagtgacgcacgtAGATCGAGACCCGACGC chr13:113220496-Alternative-G;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Reference T ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcac ATCGGCTTGACG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAatcggcttgacgAGATCGAGACCCGACGC chr13:113220496-Reference-T;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Reference T ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcac GGTACATCGGAG CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccTgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAggtacatcggagAGATCGAGACCCGACGC chr13:113220496-Reference-T;Patient-62 chr13:113220496-TA DeNovo Patient-62 intronic TUBGCP3 0.000191 4.95e-05 0.23 6.3 -0.78 TUBGCP3 21984 Alternative G ctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcac GCGGAGATGTTC CGACGCGGTCTCTCTCTctatgttctgttccatgaaggaggagaagctgcggtcgtattgggttcccGgggggaagagaacctactttgctcacatttacaacactgcaaacatcacAGAGGGAGACGGACGTCTCAATAAgcggagatgttcAGATCGAGACCCGACGC chr13:113220496-Alternative-G;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative G tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg CGCAACACCATC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAcgcaacaccatcAGATCGAGACCCGACGC chr13:113421800-Alternative-G;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative G tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GGTTGGTAAGCG CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAggttggtaagcgAGATCGAGACCCGACGC chr13:113421800-Alternative-G;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Variant T tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GCCTTAGGCAGT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAgccttaggcagtAGATCGAGACCCGACGC chr13:113421800-Variant-T;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Reference C tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg AAGACGCACTAA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAaagacgcactaaAGATCGAGACCCGACGC chr13:113421800-Reference-C;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Variant T tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GTTATCGACCTT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAgttatcgaccttAGATCGAGACCCGACGC chr13:113421800-Variant-T;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Variant T tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GCCTGATAGTTA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAgcctgatagttaAGATCGAGACCCGACGC chr13:113421800-Variant-T;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Variant T tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GGTTATAGGCGC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAggttataggcgcAGATCGAGACCCGACGC chr13:113421800-Variant-T;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative A tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg ATACGTGCGACC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAatacgtgcgaccAGATCGAGACCCGACGC chr13:113421800-Alternative-A;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Variant T tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GACCTCATGTGG CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccTgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAgacctcatgtggAGATCGAGACCCGACGC chr13:113421800-Variant-T;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative A tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg AGACGAACACGT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAagacgaacacgtAGATCGAGACCCGACGC chr13:113421800-Alternative-A;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative A tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg CACAACATGAGA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAcacaacatgagaAGATCGAGACCCGACGC chr13:113421800-Alternative-A;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative A tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg CAATTGGTCTTC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAcaattggtcttcAGATCGAGACCCGACGC chr13:113421800-Alternative-A;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative A tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg AGTTGGTGTATC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccAgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAagttggtgtatcAGATCGAGACCCGACGC chr13:113421800-Alternative-A;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Reference C tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg ACTAGTATCGGT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAactagtatcggtAGATCGAGACCCGACGC chr13:113421800-Reference-C;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Reference C tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg ACTCGGTCAATA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAactcggtcaataAGATCGAGACCCGACGC chr13:113421800-Reference-C;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Reference C tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg ACGAGTCGCAGA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAacgagtcgcagaAGATCGAGACCCGACGC chr13:113421800-Reference-C;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Reference C tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg CACGACGGTCTA CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccCgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAcacgacggtctaAGATCGAGACCCGACGC chr13:113421800-Reference-C;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative G tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg CGAATGGTTATC CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAcgaatggttatcAGATCGAGACCCGACGC chr13:113421800-Alternative-G;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative G tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg GCGAGCTGTGTT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAgcgagctgtgttAGATCGAGACCCGACGC chr13:113421800-Alternative-G;Patient-62 chr13:113421800-CT DeNovo Patient-62 intronic ATP11A NA 4.95e-05 -0.19 0.78 -1.04 ATP11A 77156 Alternative G tgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaagg ACGTCTGTGAAT CGACGCGGTCTCTCTCTtgggggcccctgtgggaaggtggggagggtgtgggagtgctgggagccccGgtggaaaggtggggaggatgtaggggtatcgggggcccctgtgggaaggAGAGGGAGACGGACGTCTCAATAAacgtctgtgaatAGATCGAGACCCGACGC chr13:113421800-Alternative-G;Patient-62 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative A gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CTAAGTATCGCA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAActaagtatcgcaAGATCGAGACCCGACGC chr13:113917420-Alternative-A;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative T gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg ACTTCGAGGCCT CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAacttcgaggcctAGATCGAGACCCGACGC chr13:113917420-Alternative-T;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative A gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg ACTAAGCGTAAC CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAactaagcgtaacAGATCGAGACCCGACGC chr13:113917420-Alternative-A;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative A gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CAACTCACGCGT CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAcaactcacgcgtAGATCGAGACCCGACGC chr13:113917420-Alternative-A;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative A gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg GATAACGTACAG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAgataacgtacagAGATCGAGACCCGACGC chr13:113917420-Alternative-A;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative T gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg AATCGCATCACA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAaatcgcatcacaAGATCGAGACCCGACGC chr13:113917420-Alternative-T;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Variant C gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg ATCAAGATCCGA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAatcaagatccgaAGATCGAGACCCGACGC chr13:113917420-Variant-C;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative T gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg GTGTCTTCACCG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAgtgtcttcaccgAGATCGAGACCCGACGC chr13:113917420-Alternative-T;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative A gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CACAGCGAATCG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaAatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAcacagcgaatcgAGATCGAGACCCGACGC chr13:113917420-Alternative-A;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Variant C gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg GCGGAACCTCAA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAgcggaacctcaaAGATCGAGACCCGACGC chr13:113917420-Variant-C;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Variant C gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CTTAGCTGTGTT CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAActtagctgtgttAGATCGAGACCCGACGC chr13:113917420-Variant-C;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative T gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg AGCAGGACCTAA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAagcaggacctaaAGATCGAGACCCGACGC chr13:113917420-Alternative-T;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Variant C gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg AGTAGTGGTCGC CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAagtagtggtcgcAGATCGAGACCCGACGC chr13:113917420-Variant-C;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Variant C gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CGAGGACAGTAA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaCatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAcgaggacagtaaAGATCGAGACCCGACGC chr13:113917420-Variant-C;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Alternative T gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg AACACGTTATCG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaTatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAaacacgttatcgAGATCGAGACCCGACGC chr13:113917420-Alternative-T;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Reference G gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg GGTTGATAGCAA CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAggttgatagcaaAGATCGAGACCCGACGC chr13:113917420-Reference-G;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Reference G gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CGACGTGACAAG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAcgacgtgacaagAGATCGAGACCCGACGC chr13:113917420-Reference-G;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Reference G gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg GTCGAACATTGT CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAgtcgaacattgtAGATCGAGACCCGACGC chr13:113917420-Reference-G;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Reference G gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg CATAGCTAATCG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAcatagctaatcgAGATCGAGACCCGACGC chr13:113917420-Reference-G;Patient-68 chr13:113917420-GC DeNovo Patient-68 intronic CUL4A NA 4.95e-05 -0.11 1.35 0.26 CUL4A 54912 Reference G gatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcg AGGCCGTATTCG CGACGCGGTCTCTCTCTgatggcagatgtcgggtctgcctcgcttatacgtgcccttgctgatggcaGatgtcgggtctgcctcacttatacgtgcccttgctgatggcagatgtcgAGAGGGAGACGGACGTCTCAATAAaggccgtattcgAGATCGAGACCCGACGC chr13:113917420-Reference-G;Patient-68 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Variant G cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctct GATGTAATGCCT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAgatgtaatgcctAGATCGAGACCCGACGC chr13:114027325-Variant-G;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Variant G cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACTAGTACGTGT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAactagtacgtgtAGATCGAGACCCGACGC chr13:114027325-Variant-G;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Variant G cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctct CGAACTTCCGTC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAcgaacttccgtcAGATCGAGACCCGACGC chr13:114027325-Variant-G;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Variant G cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACGGCTGTAGTC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAacggctgtagtcAGATCGAGACCCGACGC chr13:114027325-Variant-G;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative T cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctct AATGTGCATGAG CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAaatgtgcatgagAGATCGAGACCCGACGC chr13:114027325-Alternative-T;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative T cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctct GGTTCCGACCTT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAggttccgaccttAGATCGAGACCCGACGC chr13:114027325-Alternative-T;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative T cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctct AGCCGCTAAGCA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAagccgctaagcaAGATCGAGACCCGACGC chr13:114027325-Alternative-T;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative T cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctct GGAGAATCGGAG CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAggagaatcggagAGATCGAGACCCGACGC chr13:114027325-Alternative-T;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Variant G cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACGATGCAGGAC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtGggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAacgatgcaggacAGATCGAGACCCGACGC chr13:114027325-Variant-G;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative T cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctct GATAGTTGCATC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtTggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAgatagttgcatcAGATCGAGACCCGACGC chr13:114027325-Alternative-T;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Reference A cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctct GTCGTGACGTGT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAgtcgtgacgtgtAGATCGAGACCCGACGC chr13:114027325-Reference-A;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Reference A cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACTTCTTGTGCA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAacttcttgtgcaAGATCGAGACCCGACGC chr13:114027325-Reference-A;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Reference A cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACGTGCGTATAT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAacgtgcgtatatAGATCGAGACCCGACGC chr13:114027325-Reference-A;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative C cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACACCTCGTGAA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAacacctcgtgaaAGATCGAGACCCGACGC chr13:114027325-Alternative-C;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative C cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctct GGTGTCGGCATT CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAggtgtcggcattAGATCGAGACCCGACGC chr13:114027325-Alternative-C;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Reference A cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctct CTTGGAACAACC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAActtggaacaaccAGATCGAGACCCGACGC chr13:114027325-Reference-A;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative C cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctct AGCTCGGAAGCA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAagctcggaagcaAGATCGAGACCCGACGC chr13:114027325-Alternative-C;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative C cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctct GTTCATCGTCTA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAgttcatcgtctaAGATCGAGACCCGACGC chr13:114027325-Alternative-C;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Reference A cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctct AATAATCTGCGC CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtAggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAaataatctgcgcAGATCGAGACCCGACGC chr13:114027325-Reference-A;Patient-60 chr13:114027325-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRTP1 8861 Alternative C cggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctct ACTCAATGGCTA CGACGCGGTCTCTCTCTcggaaatagtgtttatgagcagggattaaagaaagagtgtgaaaacaggtCggaagccatctctccccactggaaatgcacacagcacacatgtagctctAGAGGGAGACGGACGTCTCAATAAactcaatggctaAGATCGAGACCCGACGC chr13:114027325-Alternative-C;Patient-60 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Variant G gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CGTGCGAGAACT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcgtgcgagaactAGATCGAGACCCGACGC chr13:114579719-Variant-G;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Variant G gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GATCGCGCAAGT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgatcgcgcaagtAGATCGAGACCCGACGC chr13:114579719-Variant-G;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Variant G gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CGCTGTATCAGG CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcgctgtatcaggAGATCGAGACCCGACGC chr13:114579719-Variant-G;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Variant G gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GTTATGCCTGAA CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgttatgcctgaaAGATCGAGACCCGACGC chr13:114579719-Variant-G;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative C gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg ACCTGGTCTGCT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAacctggtctgctAGATCGAGACCCGACGC chr13:114579719-Alternative-C;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Variant G gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CGCGTTAGGAGT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcGgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcgcgttaggagtAGATCGAGACCCGACGC chr13:114579719-Variant-G;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Reference A gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CAAGCAGCTACC CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcaagcagctaccAGATCGAGACCCGACGC chr13:114579719-Reference-A;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative T gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg AAGATTCATCGG CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAaagattcatcggAGATCGAGACCCGACGC chr13:114579719-Alternative-T;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative C gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GCCAGACGCATT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgccagacgcattAGATCGAGACCCGACGC chr13:114579719-Alternative-C;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative C gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CTGAACATTACG CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAActgaacattacgAGATCGAGACCCGACGC chr13:114579719-Alternative-C;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative T gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CGAGAGCGATGT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcgagagcgatgtAGATCGAGACCCGACGC chr13:114579719-Alternative-T;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative C gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GACTAGTCGTTA CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgactagtcgttaAGATCGAGACCCGACGC chr13:114579719-Alternative-C;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Reference A gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg AGCGGATCGCAT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAagcggatcgcatAGATCGAGACCCGACGC chr13:114579719-Reference-A;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative T gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg ACATAACGGTCT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAacataacggtctAGATCGAGACCCGACGC chr13:114579719-Alternative-T;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative T gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GGACATAAGCGA CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAggacataagcgaAGATCGAGACCCGACGC chr13:114579719-Alternative-T;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Reference A gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CTAATGCTTGTC CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAActaatgcttgtcAGATCGAGACCCGACGC chr13:114579719-Reference-A;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative C gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GCCGCAATCAGT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcCgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgccgcaatcagtAGATCGAGACCCGACGC chr13:114579719-Alternative-C;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Alternative T gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg GAGTTAGACCGC CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcTgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAgagttagaccgcAGATCGAGACCCGACGC chr13:114579719-Alternative-T;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Reference A gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CGTGATTCCATT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAAcgtgattccattAGATCGAGACCCGACGC chr13:114579719-Reference-A;Patient-87 chr13:114579719-AG Inherited Patient-87 intergenic 0.000672 0.0533 0 2.65 -0.88 GAS6 12672 Reference A gcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctg CTTGACTAGTCT CGACGCGGTCTCTCTCTgcatgggtgtcactaccatgtgggtgttgctgctgtgtgggtgtcactgcAgcgtgggtatcactgagatgtgggtgtcgttgccacatcggtgtcgctgAGAGGGAGACGGACGTCTCAATAActtgactagtctAGATCGAGACCCGACGC chr13:114579719-Reference-A;Patient-87 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Reference T tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggca GCGGATGGTATC CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAgcggatggtatcAGATCGAGACCCGACGC chr13:114886054-Reference-T;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Reference T tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggca GATACGTTACCA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAgatacgttaccaAGATCGAGACCCGACGC chr13:114886054-Reference-T;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Reference T tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggca AATATGCGGCGC CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAaatatgcggcgcAGATCGAGACCCGACGC chr13:114886054-Reference-T;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative G tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggca CGGTCACGCAAT CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAcggtcacgcaatAGATCGAGACCCGACGC chr13:114886054-Alternative-G;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative A tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggca CGTGGCTTATAT CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAcgtggcttatatAGATCGAGACCCGACGC chr13:114886054-Alternative-A;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Reference T tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggca ATTGAAGGCCAA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAattgaaggccaaAGATCGAGACCCGACGC chr13:114886054-Reference-T;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative G tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggca CGAGATGCGGAA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAcgagatgcggaaAGATCGAGACCCGACGC chr13:114886054-Alternative-G;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Reference T tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggca CTGGTTCACGTC CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccTctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAActggttcacgtcAGATCGAGACCCGACGC chr13:114886054-Reference-T;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative G tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggca GTATCTTGCAAG CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAgtatcttgcaagAGATCGAGACCCGACGC chr13:114886054-Alternative-G;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative G tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggca AGATACTCGCAC CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAagatactcgcacAGATCGAGACCCGACGC chr13:114886054-Alternative-G;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative A tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggca CGCATCGTGCTA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAcgcatcgtgctaAGATCGAGACCCGACGC chr13:114886054-Alternative-A;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative A tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggca AAGCGTACTCGG CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAaagcgtactcggAGATCGAGACCCGACGC chr13:114886054-Alternative-A;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative G tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggca CTGCTTGATAGA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccGctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAActgcttgatagaAGATCGAGACCCGACGC chr13:114886054-Alternative-G;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative A tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggca CTCACGGATATC CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAActcacggatatcAGATCGAGACCCGACGC chr13:114886054-Alternative-A;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Alternative A tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggca GGTCAACACTAT CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccActctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAggtcaacactatAGATCGAGACCCGACGC chr13:114886054-Alternative-A;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Variant C tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggca GACGTATGGTAA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAgacgtatggtaaAGATCGAGACCCGACGC chr13:114886054-Variant-C;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Variant C tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggca CGATGTTCCAAG CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAcgatgttccaagAGATCGAGACCCGACGC chr13:114886054-Variant-C;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Variant C tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggca GGAACTCAAGCA CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAggaactcaagcaAGATCGAGACCCGACGC chr13:114886054-Variant-C;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Variant C tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggca GGTGACGATACG CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAggtgacgatacgAGATCGAGACCCGACGC chr13:114886054-Variant-C;Patient-82 chr13:114886054-TC DeNovo Patient-82 intronic RASA3 0.00045 0.00831 0.25 6.55 0 RASA3 12040 Variant C tcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggca AATGGTGAACGG CGACGCGGTCTCTCTCTtcagggcccctccctctctccagccaggcgtcgatcagggccctccctccCctctccagccagacgtcggtcagggcccctccctctctccagccaggcaAGAGGGAGACGGACGTCTCAATAAaatggtgaacggAGATCGAGACCCGACGC chr13:114886054-Variant-C;Patient-82 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Reference C tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga ATAGTTCGACAC CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAatagttcgacacAGATCGAGACCCGACGC chr13:19796341-Reference-C;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative T tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CACGTAGGCGAT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcacgtaggcgatAGATCGAGACCCGACGC chr13:19796341-Alternative-T;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Reference C tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GATTGCACCTAA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAgattgcacctaaAGATCGAGACCCGACGC chr13:19796341-Reference-C;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative G tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CGGTCTATTGAA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcggtctattgaaAGATCGAGACCCGACGC chr13:19796341-Alternative-G;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative G tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CGTCTAATACGA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcgtctaatacgaAGATCGAGACCCGACGC chr13:19796341-Alternative-G;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Reference C tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CGCACGAATCGT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcgcacgaatcgtAGATCGAGACCCGACGC chr13:19796341-Reference-C;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative T tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GGAGGTTACCGT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAggaggttaccgtAGATCGAGACCCGACGC chr13:19796341-Alternative-T;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative G tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga ACATGCTTCGAG CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAacatgcttcgagAGATCGAGACCCGACGC chr13:19796341-Alternative-G;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Reference C tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga ACGTCCTCTCCT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAacgtcctctcctAGATCGAGACCCGACGC chr13:19796341-Reference-C;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative G tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GAGCAAGTTCAA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAgagcaagttcaaAGATCGAGACCCGACGC chr13:19796341-Alternative-G;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative T tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CTGAACCGTATT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAActgaaccgtattAGATCGAGACCCGACGC chr13:19796341-Alternative-T;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative T tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga AGTGAGGACCGA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAagtgaggaccgaAGATCGAGACCCGACGC chr13:19796341-Alternative-T;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Variant A tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctggga ACGATCATTGGT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAacgatcattggtAGATCGAGACCCGACGC chr13:19796341-Variant-A;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Variant A tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctggga AGTGCGGTCTGA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAagtgcggtctgaAGATCGAGACCCGACGC chr13:19796341-Variant-A;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Variant A tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CGTGTGGTATAT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcgtgtggtatatAGATCGAGACCCGACGC chr13:19796341-Variant-A;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative T tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga CACGAACGTTCA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaTcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAcacgaacgttcaAGATCGAGACCCGACGC chr13:19796341-Alternative-T;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Alternative G tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GATATACGTCGT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaGcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAgatatacgtcgtAGATCGAGACCCGACGC chr13:19796341-Alternative-G;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Reference C tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctggga ACACCTATACGA CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaCcttctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAacacctatacgaAGATCGAGACCCGACGC chr13:19796341-Reference-C;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Variant A tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GGCCGCTATGTT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAggccgctatgttAGATCGAGACCCGACGC chr13:19796341-Variant-A;Patient-8 chr13:19796341-CA Inherited Patient-8 intergenic 9.6e-05 0.001025641 -0.16 0.96 0 TUBA3C 40348 Variant A tcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctggga GACGCTTCTTAT CGACGCGGTCTCTCTCTtcgccctggctggagtgcagtggcgtgatcttggctcactgcaacctccaActtctgggttcaagcaattctcctgcctcagcctcctgagtagctgggaAGAGGGAGACGGACGTCTCAATAAgacgcttcttatAGATCGAGACCCGACGC chr13:19796341-Variant-A;Patient-8 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Reference A agatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg AGCGGAATGTAA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAagcggaatgtaaAGATCGAGACCCGACGC chr13:19817912-Reference-A;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Variant G agatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GCGCTCTGTGAT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAgcgctctgtgatAGATCGAGACCCGACGC chr13:19817912-Variant-G;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative T agatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GTTAGATGGTAC CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAgttagatggtacAGATCGAGACCCGACGC chr13:19817912-Alternative-T;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative T agatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg AGGTTGACAAGT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAaggttgacaagtAGATCGAGACCCGACGC chr13:19817912-Alternative-T;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Variant G agatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg AGGAATGCCACT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAaggaatgccactAGATCGAGACCCGACGC chr13:19817912-Variant-G;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative T agatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg ACTTCCATCGAT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAacttccatcgatAGATCGAGACCCGACGC chr13:19817912-Alternative-T;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative T agatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CATCGGCTAGCA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcatcggctagcaAGATCGAGACCCGACGC chr13:19817912-Alternative-T;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative T agatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GGTGATAGCCTA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagTtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAggtgatagcctaAGATCGAGACCCGACGC chr13:19817912-Alternative-T;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative C agatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GTAACCAGACGC CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAgtaaccagacgcAGATCGAGACCCGACGC chr13:19817912-Alternative-C;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative C agatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CGTAGTCAATGT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcgtagtcaatgtAGATCGAGACCCGACGC chr13:19817912-Alternative-C;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Reference A agatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg AGATAGCAACGT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAagatagcaacgtAGATCGAGACCCGACGC chr13:19817912-Reference-A;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Reference A agatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GCAACGTACACT CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAgcaacgtacactAGATCGAGACCCGACGC chr13:19817912-Reference-A;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative C agatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg ACCACGGTCGAA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAaccacggtcgaaAGATCGAGACCCGACGC chr13:19817912-Alternative-C;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Reference A agatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg AAGATCGCGAAC CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAaagatcgcgaacAGATCGAGACCCGACGC chr13:19817912-Reference-A;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Reference A agatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CGACGGTCGTTA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagAtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcgacggtcgttaAGATCGAGACCCGACGC chr13:19817912-Reference-A;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative C agatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg ACGGCTCGAATC CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAacggctcgaatcAGATCGAGACCCGACGC chr13:19817912-Alternative-C;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Alternative C agatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CGTTAGGCACGA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagCtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcgttaggcacgaAGATCGAGACCCGACGC chr13:19817912-Alternative-C;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Variant G agatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg GCCTTCCAACGA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAgccttccaacgaAGATCGAGACCCGACGC chr13:19817912-Variant-G;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Variant G agatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CGGCATCCGATA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcggcatccgataAGATCGAGACCCGACGC chr13:19817912-Variant-G;Patient-26 chr13:19817912-AG DeNovo Patient-26 intergenic NA 0.000512821 0.17 5.34 0.1 TUBA3C 61919 Variant G agatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtggg CAGATTGTGAGA CGACGCGGTCTCTCTCTagatcataggagaaggatctgatcttacctggggctgagtcaatttagagGtctgagcaaaacacagaggtagatgaagcagcagaaaaagctctgtgggAGAGGGAGACGGACGTCTCAATAAcagattgtgagaAGATCGAGACCCGACGC chr13:19817912-Variant-G;Patient-26 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Variant C atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt GATGCGGTATAA CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAgatgcggtataaAGATCGAGACCCGACGC chr13:21140663-Variant-C;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative T atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt GCAATCACGTAT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAgcaatcacgtatAGATCGAGACCCGACGC chr13:21140663-Alternative-T;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Variant C atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt GCGAAGATGCGT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAgcgaagatgcgtAGATCGAGACCCGACGC chr13:21140663-Variant-C;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Variant C atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CTATGTTGCGAT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAActatgttgcgatAGATCGAGACCCGACGC chr13:21140663-Variant-C;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative T atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CTATAGATGCAC CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAActatagatgcacAGATCGAGACCCGACGC chr13:21140663-Alternative-T;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative T atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ATACGGTGGTGG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAatacggtggtggAGATCGAGACCCGACGC chr13:21140663-Alternative-T;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative A atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CTAGATGGACGC CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAActagatggacgcAGATCGAGACCCGACGC chr13:21140663-Alternative-A;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative A atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CACGACATGCGT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAcacgacatgcgtAGATCGAGACCCGACGC chr13:21140663-Alternative-A;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative A atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ACACATTACCGG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAacacattaccggAGATCGAGACCCGACGC chr13:21140663-Alternative-A;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative T atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CAGCTACAAGCG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAcagctacaagcgAGATCGAGACCCGACGC chr13:21140663-Alternative-T;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Variant C atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CGACCATTGACG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAcgaccattgacgAGATCGAGACCCGACGC chr13:21140663-Variant-C;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Variant C atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CACTGTCGACAC CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtCgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAcactgtcgacacAGATCGAGACCCGACGC chr13:21140663-Variant-C;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative A atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ATCTTAACGCCT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAatcttaacgcctAGATCGAGACCCGACGC chr13:21140663-Alternative-A;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Reference G atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ATCTTACTCGGT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAatcttactcggtAGATCGAGACCCGACGC chr13:21140663-Reference-G;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative A atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt AGGACCATAACA CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtAgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAaggaccataacaAGATCGAGACCCGACGC chr13:21140663-Alternative-A;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Reference G atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ACGCTTGACTAA CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAacgcttgactaaAGATCGAGACCCGACGC chr13:21140663-Reference-G;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Reference G atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ATTCCAACGTGT CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAattccaacgtgtAGATCGAGACCCGACGC chr13:21140663-Reference-G;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Reference G atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt CGCATTGTGCAG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAcgcattgtgcagAGATCGAGACCCGACGC chr13:21140663-Reference-G;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Alternative T atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt AGCAACACCGAA CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtTgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAagcaacaccgaaAGATCGAGACCCGACGC chr13:21140663-Alternative-T;Patient-37 chr13:21140663-GC Inherited Patient-37 intergenic 0.000478 0.00154 0.32 7.46 -0.82 IFT88 544 Reference G atcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataactttt ACTACGCATCGG CGACGCGGTCTCTCTCTatcaaggtgcgcacggggtgctacagaacaatacgcagacaggaggaggtGgggggaaaggtgagacttcccaggcaggtgtcatcccagaataacttttAGAGGGAGACGGACGTCTCAATAAactacgcatcggAGATCGAGACCCGACGC chr13:21140663-Reference-G;Patient-37 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative G ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc AGCATTGGCGAG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAagcattggcgagAGATCGAGACCCGACGC chr13:21261490-Alternative-G;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative G ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GACATAGCTTGT CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAgacatagcttgtAGATCGAGACCCGACGC chr13:21261490-Alternative-G;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative G ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ACCATTGTTGCT CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAaccattgttgctAGATCGAGACCCGACGC chr13:21261490-Alternative-G;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Variant T ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc AGTTCAATCGTC CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAagttcaatcgtcAGATCGAGACCCGACGC chr13:21261490-Variant-T;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative G ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GAATCAAGACGG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAgaatcaagacggAGATCGAGACCCGACGC chr13:21261490-Alternative-G;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative G ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc CTACGAGATAGG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagGttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAActacgagataggAGATCGAGACCCGACGC chr13:21261490-Alternative-G;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Variant T ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc AGACCTTGATCA CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAagaccttgatcaAGATCGAGACCCGACGC chr13:21261490-Variant-T;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Variant T ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GGTTGGTTAGAT CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAggttggttagatAGATCGAGACCCGACGC chr13:21261490-Variant-T;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Variant T ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GAGTTAAGGTGT CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAgagttaaggtgtAGATCGAGACCCGACGC chr13:21261490-Variant-T;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative A ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GTATAGTCGCGC CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAgtatagtcgcgcAGATCGAGACCCGACGC chr13:21261490-Alternative-A;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Variant T ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GGTTGATGGTGG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagTttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAggttgatggtggAGATCGAGACCCGACGC chr13:21261490-Variant-T;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Reference C ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ATCATCGCGAAT CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAatcatcgcgaatAGATCGAGACCCGACGC chr13:21261490-Reference-C;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative A ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc CAACAGCTGTGA CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAcaacagctgtgaAGATCGAGACCCGACGC chr13:21261490-Alternative-A;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative A ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc GACCGAAGTTCG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAgaccgaagttcgAGATCGAGACCCGACGC chr13:21261490-Alternative-A;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative A ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ATACGATCCAGG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAatacgatccaggAGATCGAGACCCGACGC chr13:21261490-Alternative-A;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Alternative A ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ACCACAGCTACA CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagAttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAaccacagctacaAGATCGAGACCCGACGC chr13:21261490-Alternative-A;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Reference C ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ATAGTCGTACAC CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAatagtcgtacacAGATCGAGACCCGACGC chr13:21261490-Reference-C;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Reference C ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc ACGAATGCGGAG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAacgaatgcggagAGATCGAGACCCGACGC chr13:21261490-Reference-C;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Reference C ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc CTGGTCACGAAC CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAActggtcacgaacAGATCGAGACCCGACGC chr13:21261490-Reference-C;Patient-72 chr13:21261490-CT DeNovo Patient-72 intronic IFT88 NA 9.9e-05 0 2.66 0.52 IL17D 15991 Reference C ctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgcc AAGGAACCTGAG CGACGCGGTCTCTCTCTctgtcattattaagacagccacattttgtggggcgagccaaactgctgagCttggaatagcatatgcttggaatctgaatatgaataaggcccaggtgccAGAGGGAGACGGACGTCTCAATAAaaggaacctgagAGATCGAGACCCGACGC chr13:21261490-Reference-C;Patient-72 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Reference G tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtg CGTACTATCCAA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAcgtactatccaaAGATCGAGACCCGACGC chr13:21640164-Reference-G;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Reference G tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtg ATCATAAGCGCT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAatcataagcgctAGATCGAGACCCGACGC chr13:21640164-Reference-G;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Reference G tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtg AACGCGTCGTAC CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAaacgcgtcgtacAGATCGAGACCCGACGC chr13:21640164-Reference-G;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Reference G tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtg CATATAGCGTCA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAcatatagcgtcaAGATCGAGACCCGACGC chr13:21640164-Reference-G;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative T tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtg ACCAATTGCCTT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAaccaattgccttAGATCGAGACCCGACGC chr13:21640164-Alternative-T;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative T tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtg AAGACTGTCGCG CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAaagactgtcgcgAGATCGAGACCCGACGC chr13:21640164-Alternative-T;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative T tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtg AACGTGCTGCGT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAaacgtgctgcgtAGATCGAGACCCGACGC chr13:21640164-Alternative-T;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative T tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtg ACGTTCAAGGCG CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAacgttcaaggcgAGATCGAGACCCGACGC chr13:21640164-Alternative-T;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative T tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtg CGACATCGTACC CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggTttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAcgacatcgtaccAGATCGAGACCCGACGC chr13:21640164-Alternative-T;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Variant A tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GATTCACTCACA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgattcactcacaAGATCGAGACCCGACGC chr13:21640164-Variant-A;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Variant A tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GATATGCTCAGT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgatatgctcagtAGATCGAGACCCGACGC chr13:21640164-Variant-A;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Variant A tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GTTCATCGCTAT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgttcatcgctatAGATCGAGACCCGACGC chr13:21640164-Variant-A;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Variant A tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtg AGGTTGACATGA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAaggttgacatgaAGATCGAGACCCGACGC chr13:21640164-Variant-A;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Reference G tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GTCCGAAGAGAT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggGttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgtccgaagagatAGATCGAGACCCGACGC chr13:21640164-Reference-G;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative C tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtg ATCACGTGTCTT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAatcacgtgtcttAGATCGAGACCCGACGC chr13:21640164-Alternative-C;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Variant A tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtg CGGTAGGATTAA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggAttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAcggtaggattaaAGATCGAGACCCGACGC chr13:21640164-Variant-A;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative C tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GGAACAGATCAT CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAggaacagatcatAGATCGAGACCCGACGC chr13:21640164-Alternative-C;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative C tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GTCCGACAATGA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgtccgacaatgaAGATCGAGACCCGACGC chr13:21640164-Alternative-C;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative C tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GCAACACCGTAA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgcaacaccgtaaAGATCGAGACCCGACGC chr13:21640164-Alternative-C;Patient-99 chr13:21640164-GA DeNovo Patient-99 intergenic NA 0.000513 -0.2 0.73 -1.36 LATS2 4441 Alternative C tccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtg GATATCGCACTA CGACGCGGTCTCTCTCTtccacttgcttgtgaggcctctgcagttgtgaagccaggatagtgtagggCttctctccctaaggctcctatagaatatcaactatggctgggtacggtgAGAGGGAGACGGACGTCTCAATAAgatatcgcactaAGATCGAGACCCGACGC chr13:21640164-Alternative-C;Patient-99 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative T gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagca CTCTTATTCGTC CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAActcttattcgtcAGATCGAGACCCGACGC chr13:22154486-Alternative-T;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Reference A gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagca CGTTGAGAATGA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcgttgagaatgaAGATCGAGACCCGACGC chr13:22154486-Reference-A;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative T gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagca GTTCCGTCATCG CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAgttccgtcatcgAGATCGAGACCCGACGC chr13:22154486-Alternative-T;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Reference A gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagca CTATGCTCTCTT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAActatgctctcttAGATCGAGACCCGACGC chr13:22154486-Reference-A;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative T gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagca AACGATGCTGAA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAaacgatgctgaaAGATCGAGACCCGACGC chr13:22154486-Alternative-T;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Reference A gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagca CATCGGTTGTTA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcatcggttgttaAGATCGAGACCCGACGC chr13:22154486-Reference-A;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative T gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagca AGTCGTTGTTCT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAagtcgttgttctAGATCGAGACCCGACGC chr13:22154486-Alternative-T;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative T gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagca ATTCGGAGCTTA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttTtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAattcggagcttaAGATCGAGACCCGACGC chr13:22154486-Alternative-T;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Variant G gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagca CGGAATTCCATT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcggaattccattAGATCGAGACCCGACGC chr13:22154486-Variant-G;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative C gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagca CTCATCGAACTT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAActcatcgaacttAGATCGAGACCCGACGC chr13:22154486-Alternative-C;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Reference A gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagca CTCAAGCGACGT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAActcaagcgacgtAGATCGAGACCCGACGC chr13:22154486-Reference-A;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Reference A gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagca CGTTATGGCGAC CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttAtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcgttatggcgacAGATCGAGACCCGACGC chr13:22154486-Reference-A;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Variant G gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagca ATCGGAGCGTAC CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAatcggagcgtacAGATCGAGACCCGACGC chr13:22154486-Variant-G;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Variant G gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagca GATTCGTCTAGA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAgattcgtctagaAGATCGAGACCCGACGC chr13:22154486-Variant-G;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Variant G gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagca AATGTTCACGAG CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAaatgttcacgagAGATCGAGACCCGACGC chr13:22154486-Variant-G;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative C gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagca CGTAATGAGCTT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcgtaatgagcttAGATCGAGACCCGACGC chr13:22154486-Alternative-C;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative C gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagca ATTGTGCGCTAA CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAattgtgcgctaaAGATCGAGACCCGACGC chr13:22154486-Alternative-C;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative C gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagca CACTTATTCGAC CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcacttattcgacAGATCGAGACCCGACGC chr13:22154486-Alternative-C;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Alternative C gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagca ACTGCGGTATAT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttCtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAactgcggtatatAGATCGAGACCCGACGC chr13:22154486-Alternative-C;Patient-90 chr13:22154486-AG DeNovo Patient-90 intronic MICU2 0.000159 4.95e-05 0.14 4.95 -1.94 MICU2 23868 Variant G gaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagca CAACCGGCGAAT CGACGCGGTCTCTCTCTgaattttggaatcttatatgagaaacaaaaccagtgaaaacttgtagtttGtaagttgttacatacatacttttaagggtaggcatggacagagctagcaAGAGGGAGACGGACGTCTCAATAAcaaccggcgaatAGATCGAGACCCGACGC chr13:22154486-Variant-G;Patient-90 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative T ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CGCGAACGGATT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcgcgaacggattAGATCGAGACCCGACGC chr13:22260601-Alternative-T;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative T ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GTCTCGACGCTT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgtctcgacgcttAGATCGAGACCCGACGC chr13:22260601-Alternative-T;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative T ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CATGACATGCGG CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcatgacatgcggAGATCGAGACCCGACGC chr13:22260601-Alternative-T;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Reference G ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CATAGACTGACC CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcatagactgaccAGATCGAGACCCGACGC chr13:22260601-Reference-G;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative T ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CTATAAGACCGT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAActataagaccgtAGATCGAGACCCGACGC chr13:22260601-Alternative-T;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Reference G ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GCGTTGCCTTGT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgcgttgccttgtAGATCGAGACCCGACGC chr13:22260601-Reference-G;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Variant A ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CATAGGCACCGT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcataggcaccgtAGATCGAGACCCGACGC chr13:22260601-Variant-A;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Reference G ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GCCAACAATATC CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgccaacaatatcAGATCGAGACCCGACGC chr13:22260601-Reference-G;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative T ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GGCGTGTGGATA CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacTtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAggcgtgtggataAGATCGAGACCCGACGC chr13:22260601-Alternative-T;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Variant A ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg ATCACGGATTGT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAatcacggattgtAGATCGAGACCCGACGC chr13:22260601-Variant-A;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Reference G ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GATTGCGACGTC CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgattgcgacgtcAGATCGAGACCCGACGC chr13:22260601-Reference-G;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Variant A ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CGACACTTCGAA CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcgacacttcgaaAGATCGAGACCCGACGC chr13:22260601-Variant-A;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Reference G ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CTCTACGAAGCA CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacGtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAActctacgaagcaAGATCGAGACCCGACGC chr13:22260601-Reference-G;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative C ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CGCCTACATGGT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcgcctacatggtAGATCGAGACCCGACGC chr13:22260601-Alternative-C;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Variant A ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CAACCGTAGTCG CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcaaccgtagtcgAGATCGAGACCCGACGC chr13:22260601-Variant-A;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative C ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GATGTATGGCCG CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgatgtatggccgAGATCGAGACCCGACGC chr13:22260601-Alternative-C;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Variant A ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg AGCCGCTACGTT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacAtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAagccgctacgttAGATCGAGACCCGACGC chr13:22260601-Variant-A;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative C ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CTCTAATCCGGC CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAActctaatccggcAGATCGAGACCCGACGC chr13:22260601-Alternative-C;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative C ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg GTACTCCAACTT CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAgtactccaacttAGATCGAGACCCGACGC chr13:22260601-Alternative-C;Patient-66 chr13:22260601-GA DeNovo Patient-66 intronic FGF9 6.4e-05 4.95e-05 -0.14 1.05 0.5 FGF9 15385 Alternative C ttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatg CGACACTATATC CGACGCGGTCTCTCTCTttcaagaagcttgcatttaacaaaaggaattgaccttttctttaaaaaacCtagctggtacaggtactaacattgtaaggatgttggaacatacagcatgAGAGGGAGACGGACGTCTCAATAAcgacactatatcAGATCGAGACCCGACGC chr13:22260601-Alternative-C;Patient-66 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Variant C ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GCGTATGCGAAC CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgcgtatgcgaacAGATCGAGACCCGACGC chr13:22276268-Variant-C;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Variant C ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GTGTATGTCTGT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgtgtatgtctgtAGATCGAGACCCGACGC chr13:22276268-Variant-C;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Variant C ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga CAGACGGTATGC CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAcagacggtatgcAGATCGAGACCCGACGC chr13:22276268-Variant-C;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Reference T ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GACGATTCGATT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgacgattcgattAGATCGAGACCCGACGC chr13:22276268-Reference-T;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Reference T ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga AGCGTGCACAAG CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAagcgtgcacaagAGATCGAGACCCGACGC chr13:22276268-Reference-T;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Variant C ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga CTATGCGATCGG CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAActatgcgatcggAGATCGAGACCCGACGC chr13:22276268-Variant-C;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Reference T ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga AGCAAGAGTGCG CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAagcaagagtgcgAGATCGAGACCCGACGC chr13:22276268-Reference-T;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Reference T ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga AGAATTGCCGGC CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAagaattgccggcAGATCGAGACCCGACGC chr13:22276268-Reference-T;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Variant C ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GACCAACGGCTT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaCtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgaccaacggcttAGATCGAGACCCGACGC chr13:22276268-Variant-C;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative A ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga ATCGTTGTTGCT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAatcgttgttgctAGATCGAGACCCGACGC chr13:22276268-Alternative-A;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative G ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga ACTATTCGACGA CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAactattcgacgaAGATCGAGACCCGACGC chr13:22276268-Alternative-G;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative A ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga ATCTCTCTCGTC CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAatctctctcgtcAGATCGAGACCCGACGC chr13:22276268-Alternative-A;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative A ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga CGCCTTACATTA CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAcgccttacattaAGATCGAGACCCGACGC chr13:22276268-Alternative-A;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative G ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GGTGTTAGCCGT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAggtgttagccgtAGATCGAGACCCGACGC chr13:22276268-Alternative-G;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative G ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga AAGACTAAGCGT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAaagactaagcgtAGATCGAGACCCGACGC chr13:22276268-Alternative-G;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative A ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga ACCGTGTACCGA CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAaccgtgtaccgaAGATCGAGACCCGACGC chr13:22276268-Alternative-A;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative G ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga CTGTCGTACATT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAActgtcgtacattAGATCGAGACCCGACGC chr13:22276268-Alternative-G;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative A ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GGTCTGAACATA CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaAtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAggtctgaacataAGATCGAGACCCGACGC chr13:22276268-Alternative-A;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Alternative G ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GAGCTCTAAGTT CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaGtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgagctctaagttAGATCGAGACCCGACGC chr13:22276268-Alternative-G;Patient-109 chr13:22276268-TC DeNovo Patient-109 3 prime UTR FGF9 NA 3.84e-05 1.28 14.84 4.28 FGF9 31052 Reference T ttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatga GTGACGAATCGC CGACGCGGTCTCTCTCTttattatatagagtttatttttaatgaaacatgtacaggccagataggcaTtttggaagctttaggctctgtaagcattaaatggcaaagtccgctatgaAGAGGGAGACGGACGTCTCAATAAgtgacgaatcgcAGATCGAGACCCGACGC chr13:22276268-Reference-T;Patient-109 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative A tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ATACCGTCGATA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAataccgtcgataAGATCGAGACCCGACGC chr13:23987305-Alternative-A;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative A tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACGTTGGACGAA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAacgttggacgaaAGATCGAGACCCGACGC chr13:23987305-Alternative-A;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative A tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACATAATGGCGA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAacataatggcgaAGATCGAGACCCGACGC chr13:23987305-Alternative-A;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative A tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CTGCTACGCAGA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAActgctacgcagaAGATCGAGACCCGACGC chr13:23987305-Alternative-A;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Reference T tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt AGGACGCTGTGA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAaggacgctgtgaAGATCGAGACCCGACGC chr13:23987305-Reference-T;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Variant C tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt GCGGCTAATTAA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAgcggctaattaaAGATCGAGACCCGACGC chr13:23987305-Variant-C;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Variant C tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt GGTTGCACGCTA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAggttgcacgctaAGATCGAGACCCGACGC chr13:23987305-Variant-C;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Variant C tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt GGTATGCATGAA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAggtatgcatgaaAGATCGAGACCCGACGC chr13:23987305-Variant-C;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative A tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CTGAGTTCGTAA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaAgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAActgagttcgtaaAGATCGAGACCCGACGC chr13:23987305-Alternative-A;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Reference T tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt GATCGGCGTACA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAgatcggcgtacaAGATCGAGACCCGACGC chr13:23987305-Reference-T;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Variant C tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CGGACTCTAACC CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAcggactctaaccAGATCGAGACCCGACGC chr13:23987305-Variant-C;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Reference T tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACTGTCTAAGGT CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAactgtctaaggtAGATCGAGACCCGACGC chr13:23987305-Reference-T;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Reference T tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CTAGATCGACGG CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAActagatcgacggAGATCGAGACCCGACGC chr13:23987305-Reference-T;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative G tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACTAGGTGATGA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAactaggtgatgaAGATCGAGACCCGACGC chr13:23987305-Alternative-G;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Reference T tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt GTTCAAGGAACA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaTgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAgttcaaggaacaAGATCGAGACCCGACGC chr13:23987305-Reference-T;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Variant C tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt AGATGACTTCGT CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaCgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAagatgacttcgtAGATCGAGACCCGACGC chr13:23987305-Variant-C;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative G tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACCGACAGATCG CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAaccgacagatcgAGATCGAGACCCGACGC chr13:23987305-Alternative-G;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative G tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CAACAATGCGAA CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAcaacaatgcgaaAGATCGAGACCCGACGC chr13:23987305-Alternative-G;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative G tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt ACGAAGCCGGTT CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAacgaagccggttAGATCGAGACCCGACGC chr13:23987305-Alternative-G;Patient-35 chr13:23987305-TC DeNovo Patient-35 intronic SACS 0.000637 0.000403 -0.02 2.34 0.16 SACS 20561 Alternative G tacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggt CAAGCGACTACC CGACGCGGTCTCTCTCTtacaagcaagcaccaccacgcccagctaattttgtatttctagtagaggaGgggatttctccacattggtcaggctggtcttgaactctcaatctcaggtAGAGGGAGACGGACGTCTCAATAAcaagcgactaccAGATCGAGACCCGACGC chr13:23987305-Alternative-G;Patient-35 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Reference T ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt AATCGGCGGTGT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAaatcggcggtgtAGATCGAGACCCGACGC chr13:24709442-Reference-T;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Reference T ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CGCTCAGTTCTA CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcgctcagttctaAGATCGAGACCCGACGC chr13:24709442-Reference-T;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative A ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CTCATTGGTTCA CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAActcattggttcaAGATCGAGACCCGACGC chr13:24709442-Alternative-A;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative A ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt ACTCATTGCGGC CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAactcattgcggcAGATCGAGACCCGACGC chr13:24709442-Alternative-A;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative G ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CGGACGTTCCAT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcggacgttccatAGATCGAGACCCGACGC chr13:24709442-Alternative-G;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Reference T ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt ACGACGCAGAGT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAacgacgcagagtAGATCGAGACCCGACGC chr13:24709442-Reference-T;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative G ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt ACCTGTTCGGAG CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAacctgttcggagAGATCGAGACCCGACGC chr13:24709442-Alternative-G;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Reference T ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CGATCGATGCAC CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcgatcgatgcacAGATCGAGACCCGACGC chr13:24709442-Reference-T;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative A ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt AGACGAGAATGA CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAagacgagaatgaAGATCGAGACCCGACGC chr13:24709442-Alternative-A;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative G ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt ATTGCCTTACCT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAattgccttacctAGATCGAGACCCGACGC chr13:24709442-Alternative-G;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative A ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt GCAGCATTCGAC CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAgcagcattcgacAGATCGAGACCCGACGC chr13:24709442-Alternative-A;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Reference T ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt AGCTGGAACTAA CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataTgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAagctggaactaaAGATCGAGACCCGACGC chr13:24709442-Reference-T;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative G ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt GTTCTGACACTT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAgttctgacacttAGATCGAGACCCGACGC chr13:24709442-Alternative-G;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative G ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CAAGCGATAAGG CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataGgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcaagcgataaggAGATCGAGACCCGACGC chr13:24709442-Alternative-G;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Variant C ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt GTAGTGTAAGCA CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAgtagtgtaagcaAGATCGAGACCCGACGC chr13:24709442-Variant-C;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Variant C ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt GGATACGGAAGG CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAggatacggaaggAGATCGAGACCCGACGC chr13:24709442-Variant-C;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Variant C ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CAGTCGCGTCAT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcagtcgcgtcatAGATCGAGACCCGACGC chr13:24709442-Variant-C;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Variant C ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt AATGCTTGGCCG CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAaatgcttggccgAGATCGAGACCCGACGC chr13:24709442-Variant-C;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Alternative A ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt CATTATGCCGTT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataAgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAcattatgccgttAGATCGAGACCCGACGC chr13:24709442-Alternative-A;Patient-61 chr13:24709442-TC Inherited Patient-61 intergenic NA 6.28e-05 -0.16 0.91 0.18 SPATA13 25418 Variant C ctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatattt ATCGTTGTCGTT CGACGCGGTCTCTCTCTctctgatgtgcaataattaggaaagagacagtacaacaattttgaacataCgtatttttgatagaagtttgaaagctgggtatcctctaaaatcatatttAGAGGGAGACGGACGTCTCAATAAatcgttgtcgttAGATCGAGACCCGACGC chr13:24709442-Variant-C;Patient-61 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Reference G aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattactta CGGAAGTTGATA CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAcggaagttgataAGATCGAGACCCGACGC chr13:25330621-Reference-G;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Reference G aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattactta CGTTGCGGACTT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAcgttgcggacttAGATCGAGACCCGACGC chr13:25330621-Reference-G;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Variant A aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattactta GTCGATATTGGT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAgtcgatattggtAGATCGAGACCCGACGC chr13:25330621-Variant-A;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Variant A aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattactta ACGCGAACTCTA CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAacgcgaactctaAGATCGAGACCCGACGC chr13:25330621-Variant-A;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Variant A aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattactta GCCGAACTGTTC CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAgccgaactgttcAGATCGAGACCCGACGC chr13:25330621-Variant-A;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Reference G aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattactta ACATGCGTATGG CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAacatgcgtatggAGATCGAGACCCGACGC chr13:25330621-Reference-G;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative C aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattactta ACTGGTACGACT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAactggtacgactAGATCGAGACCCGACGC chr13:25330621-Alternative-C;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Variant A aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattactta GCACCTAATGAT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAgcacctaatgatAGATCGAGACCCGACGC chr13:25330621-Variant-A;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative T aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattactta ATCTGGTCTGAA CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAatctggtctgaaAGATCGAGACCCGACGC chr13:25330621-Alternative-T;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Reference G aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattactta GGAGACAACGCT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAggagacaacgctAGATCGAGACCCGACGC chr13:25330621-Reference-G;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative C aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattactta CTAGCGAAGGAC CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAActagcgaaggacAGATCGAGACCCGACGC chr13:25330621-Alternative-C;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative C aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattactta CTCGGAGCCTAT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAActcggagcctatAGATCGAGACCCGACGC chr13:25330621-Alternative-C;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Variant A aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattactta GCAATCGACAGG CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccAaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAgcaatcgacaggAGATCGAGACCCGACGC chr13:25330621-Variant-A;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Reference G aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattactta AAGCGTGAACGG CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccGaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAaagcgtgaacggAGATCGAGACCCGACGC chr13:25330621-Reference-G;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative T aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattactta CTTGAGTGGTCT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAActtgagtggtctAGATCGAGACCCGACGC chr13:25330621-Alternative-T;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative C aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattactta AGATTCGTGTCG CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAagattcgtgtcgAGATCGAGACCCGACGC chr13:25330621-Alternative-C;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative T aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattactta AACACGAGAATC CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAaacacgagaatcAGATCGAGACCCGACGC chr13:25330621-Alternative-T;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative C aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattactta GACTAATCGACT CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccCaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAgactaatcgactAGATCGAGACCCGACGC chr13:25330621-Alternative-C;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative T aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattactta AACCGTGCGTTC CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAaaccgtgcgttcAGATCGAGACCCGACGC chr13:25330621-Alternative-T;Patient-110 chr13:25330621-GA DeNovo Patient-110 intergenic NA 3.98e-05 -0.61 0.04 -0.83 ATP12A 76071 Alternative T aattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattactta CGGATAGCGTAC CGACGCGGTCTCTCTCTaattcttcctcgttttgttttctgtgtctgtggaagtcatagcgaatcccTaaaatgtatagcttgaattctgttgggttttttttttctttattacttaAGAGGGAGACGGACGTCTCAATAAcggatagcgtacAGATCGAGACCCGACGC chr13:25330621-Alternative-T;Patient-110 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Reference C gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt CTCTGGCTAATA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAActctggctaataAGATCGAGACCCGACGC chr13:25337274-Reference-C;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative A gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt ATCGACATCGAC CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAatcgacatcgacAGATCGAGACCCGACGC chr13:25337274-Alternative-A;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative A gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GAGTTAACCACG CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAgagttaaccacgAGATCGAGACCCGACGC chr13:25337274-Alternative-A;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative A gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AGACTGAACGAC CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAagactgaacgacAGATCGAGACCCGACGC chr13:25337274-Alternative-A;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative A gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GACGAGATCCAT CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAgacgagatccatAGATCGAGACCCGACGC chr13:25337274-Alternative-A;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative A gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt CGACGTTAGCAT CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacAgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAcgacgttagcatAGATCGAGACCCGACGC chr13:25337274-Alternative-A;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Variant T gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AATGCGTGAATC CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAaatgcgtgaatcAGATCGAGACCCGACGC chr13:25337274-Variant-T;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Variant T gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt ACGAGCGATTAA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAacgagcgattaaAGATCGAGACCCGACGC chr13:25337274-Variant-T;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Variant T gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt CGTAATAGGAGT CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAcgtaataggagtAGATCGAGACCCGACGC chr13:25337274-Variant-T;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Variant T gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt CAGTCGACGTGT CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAcagtcgacgtgtAGATCGAGACCCGACGC chr13:25337274-Variant-T;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Variant T gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AGGCTATCGCAG CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacTgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAaggctatcgcagAGATCGAGACCCGACGC chr13:25337274-Variant-T;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative G gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GCGCTACTCCAA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAgcgctactccaaAGATCGAGACCCGACGC chr13:25337274-Alternative-G;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative G gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GGCTAAGCGAAG CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAggctaagcgaagAGATCGAGACCCGACGC chr13:25337274-Alternative-G;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative G gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GGTTGCGACCTA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAggttgcgacctaAGATCGAGACCCGACGC chr13:25337274-Alternative-G;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative G gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AGATAATCGTGG CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAagataatcgtggAGATCGAGACCCGACGC chr13:25337274-Alternative-G;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Alternative G gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GTGACTTCTTGT CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacGgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAgtgacttcttgtAGATCGAGACCCGACGC chr13:25337274-Alternative-G;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Reference C gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GACGCTCATTAA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAgacgctcattaaAGATCGAGACCCGACGC chr13:25337274-Reference-C;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Reference C gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt GGAACACGGTAA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAggaacacggtaaAGATCGAGACCCGACGC chr13:25337274-Reference-C;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Reference C gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AGTGTTACCACA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAagtgttaccacaAGATCGAGACCCGACGC chr13:25337274-Reference-C;Patient-30 chr13:25337274-CT Inherited Patient-30 intergenic 9.7e-05 0.000513 NA NA NA ATP12A 82724 Reference C gtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgctt AACACGATACGA CGACGCGGTCTCTCTCTgtaaggtctagtgcaaaccctatatcctctacgaagagttttcataccacCgtagaccatattgacttcatttcttcattgctttttgtgaactatgcttAGAGGGAGACGGACGTCTCAATAAaacacgatacgaAGATCGAGACCCGACGC chr13:25337274-Reference-C;Patient-30 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative C gccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga CTCTCGTGTGCA CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAActctcgtgtgcaAGATCGAGACCCGACGC chr13:26839915-Alternative-C;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative C gccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga AATCACGGTTGT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAaatcacggttgtAGATCGAGACCCGACGC chr13:26839915-Alternative-C;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative C gccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GATAGCGCCACA CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAgatagcgccacaAGATCGAGACCCGACGC chr13:26839915-Alternative-C;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Reference A gccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GCATCTACGATA CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAgcatctacgataAGATCGAGACCCGACGC chr13:26839915-Reference-A;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Reference A gccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga AAGTACGTCAAG CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAaagtacgtcaagAGATCGAGACCCGACGC chr13:26839915-Reference-A;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative C gccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga AGATGGCATCTA CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAagatggcatctaAGATCGAGACCCGACGC chr13:26839915-Alternative-C;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative C gccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga AGATTAAGCGAC CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaCgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAagattaagcgacAGATCGAGACCCGACGC chr13:26839915-Alternative-C;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Reference A gccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GTTACGGCTGGT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAgttacggctggtAGATCGAGACCCGACGC chr13:26839915-Reference-A;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative T gccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga ACTATGCCGGAC CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAactatgccggacAGATCGAGACCCGACGC chr13:26839915-Alternative-T;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Reference A gccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GGTAGAGTAACT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAggtagagtaactAGATCGAGACCCGACGC chr13:26839915-Reference-A;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Reference A gccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GGATGTTCTTCT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaAgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAggatgttcttctAGATCGAGACCCGACGC chr13:26839915-Reference-A;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Variant G gccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GGCAAGCGGTAT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAggcaagcggtatAGATCGAGACCCGACGC chr13:26839915-Variant-G;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative T gccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga AGAGGTAGGCGT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAagaggtaggcgtAGATCGAGACCCGACGC chr13:26839915-Alternative-T;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Variant G gccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga CGCATTGTGGAC CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAcgcattgtggacAGATCGAGACCCGACGC chr13:26839915-Variant-G;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Variant G gccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GGAGAAGTGGCA CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAggagaagtggcaAGATCGAGACCCGACGC chr13:26839915-Variant-G;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Variant G gccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga CTAACTATCGTC CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAActaactatcgtcAGATCGAGACCCGACGC chr13:26839915-Variant-G;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Variant G gccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga ATCGAGATGCAT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaGgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAatcgagatgcatAGATCGAGACCCGACGC chr13:26839915-Variant-G;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative T gccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga CATCTAAGAGCT CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAcatctaagagctAGATCGAGACCCGACGC chr13:26839915-Alternative-T;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative T gccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GTAGATACGGCG CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAgtagatacggcgAGATCGAGACCCGACGC chr13:26839915-Alternative-T;Patient-62 chr13:26839915-AG DeNovo Patient-62 intronic CDK8 0.000733 4.95e-05 -0.06 1.81 -3.61 CDK8 11158 Alternative T gccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccga GACGCTTATCGG CGACGCGGTCTCTCTCTgccagatcttggaggggtggagggagaggtataaataatcaaattggggaTgtaagcagattgttgtaaatcaagtcatggattttgtactttcttccgaAGAGGGAGACGGACGTCTCAATAAgacgcttatcggAGATCGAGACCCGACGC chr13:26839915-Alternative-T;Patient-62 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative C tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttat GTACCTGGAAGG CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAgtacctggaaggAGATCGAGACCCGACGC chr13:27884002-Alternative-C;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative A tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttat CACGCTAACAAC CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAcacgctaacaacAGATCGAGACCCGACGC chr13:27884002-Alternative-A;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative A tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttat GCGATGACACGT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAgcgatgacacgtAGATCGAGACCCGACGC chr13:27884002-Alternative-A;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative C tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttat GTAGAACGCCAC CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAgtagaacgccacAGATCGAGACCCGACGC chr13:27884002-Alternative-C;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative C tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttat CTAATAGGACGA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAActaataggacgaAGATCGAGACCCGACGC chr13:27884002-Alternative-C;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Reference G tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttat ACGATGCTCTAA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAacgatgctctaaAGATCGAGACCCGACGC chr13:27884002-Reference-G;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Reference G tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttat ACTTCGTTGGCG CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAacttcgttggcgAGATCGAGACCCGACGC chr13:27884002-Reference-G;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative C tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttat GTACTCCGTCGT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAgtactccgtcgtAGATCGAGACCCGACGC chr13:27884002-Alternative-C;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Reference G tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttat CTGCGGATTCCT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAActgcggattcctAGATCGAGACCCGACGC chr13:27884002-Reference-G;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Reference G tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttat AATGCGTGATGA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAaatgcgtgatgaAGATCGAGACCCGACGC chr13:27884002-Reference-G;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative A tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttat CGGTAGTCGTCT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAcggtagtcgtctAGATCGAGACCCGACGC chr13:27884002-Alternative-A;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Variant T tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttat GGTTGAGTAACA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAggttgagtaacaAGATCGAGACCCGACGC chr13:27884002-Variant-T;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative C tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttat GGCAAGAGTAGG CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgCccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAggcaagagtaggAGATCGAGACCCGACGC chr13:27884002-Alternative-C;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative A tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttat CAGCAAGATCGT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAcagcaagatcgtAGATCGAGACCCGACGC chr13:27884002-Alternative-A;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Variant T tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttat ATACGGCTTACA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAatacggcttacaAGATCGAGACCCGACGC chr13:27884002-Variant-T;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Variant T tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttat CGAAGTACTAGA CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAcgaagtactagaAGATCGAGACCCGACGC chr13:27884002-Variant-T;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Variant T tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttat CTTACACAGCAT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAActtacacagcatAGATCGAGACCCGACGC chr13:27884002-Variant-T;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Alternative A tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttat CGCATAACGTGT CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgAccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAcgcataacgtgtAGATCGAGACCCGACGC chr13:27884002-Alternative-A;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Reference G tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttat GCGAAGGTGTTC CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgGccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAgcgaaggtgttcAGATCGAGACCCGACGC chr13:27884002-Reference-G;Patient-33 chr13:27884002-GT DeNovo Patient-33 intergenic NA 0.000513 NA NA NA RPL21 58309 Variant T tgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttat AGTTGATAACGG CGACGCGGTCTCTCTCTtgcgggtagctcaagctgaactttcctataaatgagcggcctgcttctcgTccccactttcctttcctggctagataactagaagctcatttgactttatAGAGGGAGACGGACGTCTCAATAAagttgataacggAGATCGAGACCCGACGC chr13:27884002-Variant-T;Patient-33 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Variant C gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GGAGAATCAGTT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAggagaatcagttAGATCGAGACCCGACGC chr13:28134529-Variant-C;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Variant C gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CAGGACATGACT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcaggacatgactAGATCGAGACCCGACGC chr13:28134529-Variant-C;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Variant C gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GGTGTTCTAAGT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAggtgttctaagtAGATCGAGACCCGACGC chr13:28134529-Variant-C;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Reference T gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat ATCACGTCGAGA CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAatcacgtcgagaAGATCGAGACCCGACGC chr13:28134529-Reference-T;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative G gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GTACGTAGTCAT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAgtacgtagtcatAGATCGAGACCCGACGC chr13:28134529-Alternative-G;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative G gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat ATTCGAATTCGC CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAattcgaattcgcAGATCGAGACCCGACGC chr13:28134529-Alternative-G;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative G gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CGACCGAATAAG CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcgaccgaataagAGATCGAGACCCGACGC chr13:28134529-Alternative-G;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative G gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GGTTGATGCGTC CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAggttgatgcgtcAGATCGAGACCCGACGC chr13:28134529-Alternative-G;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Variant C gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat AGGTTGCGCGAA CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAaggttgcgcgaaAGATCGAGACCCGACGC chr13:28134529-Variant-C;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Reference T gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CACTAGACTAAC CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcactagactaacAGATCGAGACCCGACGC chr13:28134529-Reference-T;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Variant C gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CAGCGATCATTA CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaCtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcagcgatcattaAGATCGAGACCCGACGC chr13:28134529-Variant-C;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Reference T gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CACAACGCTCGA CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcacaacgctcgaAGATCGAGACCCGACGC chr13:28134529-Reference-T;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative G gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat AGCTTGACCACA CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaGtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAagcttgaccacaAGATCGAGACCCGACGC chr13:28134529-Alternative-G;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative A gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat AACACGCTTGTT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAaacacgcttgttAGATCGAGACCCGACGC chr13:28134529-Alternative-A;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative A gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GATCGTGCGAGT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAgatcgtgcgagtAGATCGAGACCCGACGC chr13:28134529-Alternative-A;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative A gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CGATACGCTCCT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcgatacgctcctAGATCGAGACCCGACGC chr13:28134529-Alternative-A;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Reference T gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat CGTAACGGACAG CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAcgtaacggacagAGATCGAGACCCGACGC chr13:28134529-Reference-T;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative A gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GCCGGAGATTCT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAgccggagattctAGATCGAGACCCGACGC chr13:28134529-Alternative-A;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Reference T gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat ACGCAATGGACG CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaTtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAacgcaatggacgAGATCGAGACCCGACGC chr13:28134529-Reference-T;Patient-37 chr13:28134529-TC DeNovo Patient-37 intronic LNX2 NA 4.95e-05 -0.13 1.13 -4.94 LNX2 60190 Alternative A gagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataat GTCGTTAACCTT CGACGCGGTCTCTCTCTgagcaaaggaaataaaaggaagaactgcttcaaaacttgattaaagtccaAtgtgacttttgaaataaatttccatggtggctacttcagaaatcataatAGAGGGAGACGGACGTCTCAATAAgtcgttaaccttAGATCGAGACCCGACGC chr13:28134529-Alternative-A;Patient-37 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative C tctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GCAACGCTAACA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgcaacgctaacaAGATCGAGACCCGACGC chr13:28532917-Alternative-C;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative C tctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GACGCAGTTATT CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgacgcagttattAGATCGAGACCCGACGC chr13:28532917-Alternative-C;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative C tctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CGAACCTGATGA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcgaacctgatgaAGATCGAGACCCGACGC chr13:28532917-Alternative-C;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Variant G tctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GAGCTACGACAC CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgagctacgacacAGATCGAGACCCGACGC chr13:28532917-Variant-G;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative C tctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CGTAGATTGCCG CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcgtagattgccgAGATCGAGACCCGACGC chr13:28532917-Alternative-C;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Variant G tctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GACGCATGACCT CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgacgcatgacctAGATCGAGACCCGACGC chr13:28532917-Variant-G;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Variant G tctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg ACTGCGGCATTC CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAactgcggcattcAGATCGAGACCCGACGC chr13:28532917-Variant-G;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Variant G tctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg AGGTTGCGATAA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAaggttgcgataaAGATCGAGACCCGACGC chr13:28532917-Variant-G;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Reference T tctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CAAGTAGAGTCA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcaagtagagtcaAGATCGAGACCCGACGC chr13:28532917-Reference-T;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative C tctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GACGAACCTAGT CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaCgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgacgaacctagtAGATCGAGACCCGACGC chr13:28532917-Alternative-C;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Reference T tctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CGTTGGACGCTA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcgttggacgctaAGATCGAGACCCGACGC chr13:28532917-Reference-T;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Reference T tctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CAGCAAGTAACA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcagcaagtaacaAGATCGAGACCCGACGC chr13:28532917-Reference-T;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative A tctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CTAGCGTTATCA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAActagcgttatcaAGATCGAGACCCGACGC chr13:28532917-Alternative-A;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative A tctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg ACTAGCGACTTA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAactagcgacttaAGATCGAGACCCGACGC chr13:28532917-Alternative-A;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Reference T tctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GTAGGTAGCGCT CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAgtaggtagcgctAGATCGAGACCCGACGC chr13:28532917-Reference-T;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Variant G tctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg GGATACGTGTGC CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaGgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAggatacgtgtgcAGATCGAGACCCGACGC chr13:28532917-Variant-G;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative A tctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg AACGAACGAACG CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAaacgaacgaacgAGATCGAGACCCGACGC chr13:28532917-Alternative-A;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Reference T tctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg AGCTAAGCGGCA CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaTgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAagctaagcggcaAGATCGAGACCCGACGC chr13:28532917-Reference-T;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative A tctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg ACGTGGAATTGC CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAacgtggaattgcAGATCGAGACCCGACGC chr13:28532917-Alternative-A;Patient-98 chr13:28532917-TG DeNovo Patient-98 intergenic 0.000159 0.000512821 -0.2 0.72 -2.4 CDX2 12358 Alternative A tctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttg CGTATAGCTCGG CGACGCGGTCTCTCTCTtctttattctcctaagtacagctagaaactagatgttctagttgggaacaAgtcttctagtaaatgaaagggcaagtgagctatacagatcagcaacttgAGAGGGAGACGGACGTCTCAATAAcgtatagctcggAGATCGAGACCCGACGC chr13:28532917-Alternative-A;Patient-98 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative A tacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CGATCAGGACCT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAcgatcaggacctAGATCGAGACCCGACGC chr13:28600195-Alternative-A;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative A tacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt ACGTTGTCGTGG CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAacgttgtcgtggAGATCGAGACCCGACGC chr13:28600195-Alternative-A;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative A tacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AACGAGCTCCGT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAaacgagctccgtAGATCGAGACCCGACGC chr13:28600195-Alternative-A;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative A tacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AGCCGATCATAT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAagccgatcatatAGATCGAGACCCGACGC chr13:28600195-Alternative-A;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative A tacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CTCTCGTCCACT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgAgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAActctcgtccactAGATCGAGACCCGACGC chr13:28600195-Alternative-A;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Reference C tacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AATAGATGCGGT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAaatagatgcggtAGATCGAGACCCGACGC chr13:28600195-Reference-C;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Reference C tacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AACTTGAGTCGT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAaacttgagtcgtAGATCGAGACCCGACGC chr13:28600195-Reference-C;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Reference C tacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CTCTTGACGTGC CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAActcttgacgtgcAGATCGAGACCCGACGC chr13:28600195-Reference-C;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Variant T tacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CGTTAACCTATC CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAcgttaacctatcAGATCGAGACCCGACGC chr13:28600195-Variant-T;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative G tacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AGAGGTGTTCGG CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAagaggtgttcggAGATCGAGACCCGACGC chr13:28600195-Alternative-G;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative G tacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CGAATCATATCG CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAcgaatcatatcgAGATCGAGACCCGACGC chr13:28600195-Alternative-G;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Variant T tacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt ATATGTGCAGTC CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAatatgtgcagtcAGATCGAGACCCGACGC chr13:28600195-Variant-T;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Variant T tacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt GACGATAGTACC CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAgacgatagtaccAGATCGAGACCCGACGC chr13:28600195-Variant-T;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative G tacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt AGAATGTCCGTT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAagaatgtccgttAGATCGAGACCCGACGC chr13:28600195-Alternative-G;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Variant T tacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt ACCGACACTTCG CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAaccgacacttcgAGATCGAGACCCGACGC chr13:28600195-Variant-T;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Variant T tacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt GGATGCTACCGT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgTgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAggatgctaccgtAGATCGAGACCCGACGC chr13:28600195-Variant-T;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Reference C tacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt CAACTGAACGGC CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAcaactgaacggcAGATCGAGACCCGACGC chr13:28600195-Reference-C;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Reference C tacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt GCGGTGATTAAT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgCgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAgcggtgattaatAGATCGAGACCCGACGC chr13:28600195-Reference-C;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative G tacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt GATTAACCGCTT CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAgattaaccgcttAGATCGAGACCCGACGC chr13:28600195-Alternative-G;Patient-89 chr13:28600195-CT Inherited Patient-89 intronic FLT3 9.6e-05 4.95e-05 -0.05 1.92 0.37 CDX2 54918 Alternative G tacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcactt GTAGCTACCTGG CGACGCGGTCTCTCTCTtacccttcagaataagggagaacttccatacagggagggaaataagaacgGgccaaggctcagccaggtgcggtggctcatgcctataattccagcacttAGAGGGAGACGGACGTCTCAATAAgtagctacctggAGATCGAGACCCGACGC chr13:28600195-Alternative-G;Patient-89 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Variant G tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt CGCTAACATCGG CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAcgctaacatcggAGATCGAGACCCGACGC chr13:29161596-Variant-G;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Variant G tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt CTAATAGACCAC CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAActaatagaccacAGATCGAGACCCGACGC chr13:29161596-Variant-G;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Variant G tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AATCAAGGCCAA CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAaatcaaggccaaAGATCGAGACCCGACGC chr13:29161596-Variant-G;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Variant G tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AGCTCTTATTCG CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAagctcttattcgAGATCGAGACCCGACGC chr13:29161596-Variant-G;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative T tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GGTTCCGGTTCA CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAggttccggttcaAGATCGAGACCCGACGC chr13:29161596-Alternative-T;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative A tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt CACGTAATAAGG CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAcacgtaataaggAGATCGAGACCCGACGC chr13:29161596-Alternative-A;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative T tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AGCTCGGCTGAT CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAagctcggctgatAGATCGAGACCCGACGC chr13:29161596-Alternative-T;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Variant G tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GAGGTGGTCACT CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcGtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgaggtggtcactAGATCGAGACCCGACGC chr13:29161596-Variant-G;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative T tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GAGCCTATGACC CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgagcctatgaccAGATCGAGACCCGACGC chr13:29161596-Alternative-T;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative A tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GACAAGCAATCA CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgacaagcaatcaAGATCGAGACCCGACGC chr13:29161596-Alternative-A;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Reference C tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AACTCTAGGTAC CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAaactctaggtacAGATCGAGACCCGACGC chr13:29161596-Reference-C;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative A tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AGCCTTGATACT CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAagccttgatactAGATCGAGACCCGACGC chr13:29161596-Alternative-A;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative T tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GGCTTGACGTCA CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAggcttgacgtcaAGATCGAGACCCGACGC chr13:29161596-Alternative-T;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Reference C tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AATAAGATCGCG CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAaataagatcgcgAGATCGAGACCCGACGC chr13:29161596-Reference-C;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative A tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GCGAATTGACGC CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgcgaattgacgcAGATCGAGACCCGACGC chr13:29161596-Alternative-A;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative T tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt AGTAACTCACGT CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcTtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAagtaactcacgtAGATCGAGACCCGACGC chr13:29161596-Alternative-T;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Reference C tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt ACGCTTGACACG CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAacgcttgacacgAGATCGAGACCCGACGC chr13:29161596-Reference-C;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Reference C tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GATGCTATTGGT CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgatgctattggtAGATCGAGACCCGACGC chr13:29161596-Reference-C;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Alternative A tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt ATAGAGTCCGAA CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcAtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAatagagtccgaaAGATCGAGACCCGACGC chr13:29161596-Alternative-A;Patient-39 chr13:29161596-CG DeNovo Patient-39 intergenic NA 0.000513 -0.23 0.58 0 FLT1 92330 Reference C tcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggt GAGGTTAGCGAC CGACGCGGTCTCTCTCTtcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcttcCtcatcgtcgtcttcttcttcttcttcttctttcttttttgaaacagggtAGAGGGAGACGGACGTCTCAATAAgaggttagcgacAGATCGAGACCCGACGC chr13:29161596-Reference-C;Patient-39 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Reference A caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CAGATTCTACAC CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcagattctacacAGATCGAGACCCGACGC chr13:31324217-Reference-A;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Reference A caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGTACCTAGTGG CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcgtacctagtggAGATCGAGACCCGACGC chr13:31324217-Reference-A;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative T caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca AATGAGATGGCG CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAaatgagatggcgAGATCGAGACCCGACGC chr13:31324217-Alternative-T;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative C caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CAACTCATATCG CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcaactcatatcgAGATCGAGACCCGACGC chr13:31324217-Alternative-C;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Reference A caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CTCTAAGCCGTC CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAActctaagccgtcAGATCGAGACCCGACGC chr13:31324217-Reference-A;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Reference A caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CAATGGAACGAG CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcaatggaacgagAGATCGAGACCCGACGC chr13:31324217-Reference-A;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative C caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGTAATCAAGGT CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcgtaatcaaggtAGATCGAGACCCGACGC chr13:31324217-Alternative-C;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Reference A caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca ACTCTTAGACGA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccAacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAactcttagacgaAGATCGAGACCCGACGC chr13:31324217-Reference-A;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative T caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGGCGAGATTCA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcggcgagattcaAGATCGAGACCCGACGC chr13:31324217-Alternative-T;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative T caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGTCGTTAGTAA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcgtcgttagtaaAGATCGAGACCCGACGC chr13:31324217-Alternative-T;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative T caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca AGGCTCTGGCAT CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAaggctctggcatAGATCGAGACCCGACGC chr13:31324217-Alternative-T;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative C caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca GTAACGAGAGCA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAgtaacgagagcaAGATCGAGACCCGACGC chr13:31324217-Alternative-C;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative C caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca GCCAATACTACA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAgccaatactacaAGATCGAGACCCGACGC chr13:31324217-Alternative-C;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative T caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGTGGTTCCACT CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccTacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcgtggttccactAGATCGAGACCCGACGC chr13:31324217-Alternative-T;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Variant G caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca ACACATAAGGAC CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAacacataaggacAGATCGAGACCCGACGC chr13:31324217-Variant-G;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Alternative C caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CGTCAGATAAGT CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccCacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcgtcagataagtAGATCGAGACCCGACGC chr13:31324217-Alternative-C;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Variant G caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca GCCTTAGATCGG CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAgccttagatcggAGATCGAGACCCGACGC chr13:31324217-Variant-G;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Variant G caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CTCTTGGTGCAC CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAActcttggtgcacAGATCGAGACCCGACGC chr13:31324217-Variant-G;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Variant G caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca GCGTATATAGCA CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAgcgtatatagcaAGATCGAGACCCGACGC chr13:31324217-Variant-G;Patient-54 chr13:31324217-AG Inherited Patient-54 intronic ALOX5AP 3.2e-05 4.95e-05 -0.3 0.37 -6.14 ALOX5AP 36601 Variant G caggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgca CATCGACCTGCT CGACGCGGTCTCTCTCTcaggcatcagcatcacatggagggcttgttaaaacagatttctgggccccGacacagagttttaaattctgaaggcctgaggtgggtgtgaacatttgcaAGAGGGAGACGGACGTCTCAATAAcatcgacctgctAGATCGAGACCCGACGC chr13:31324217-Variant-G;Patient-54 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Variant T ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctct AGCCGAAGTTCG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAagccgaagttcgAGATCGAGACCCGACGC chr13:31645243-Variant-T;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative G ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctct ACACGTCAAGCG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAacacgtcaagcgAGATCGAGACCCGACGC chr13:31645243-Alternative-G;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative A ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctct AGCGCGGTAACA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAagcgcggtaacaAGATCGAGACCCGACGC chr13:31645243-Alternative-A;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Reference C ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctct CATTAGACCACA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAcattagaccacaAGATCGAGACCCGACGC chr13:31645243-Reference-C;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Reference C ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctct ATTCACGATGCA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAattcacgatgcaAGATCGAGACCCGACGC chr13:31645243-Reference-C;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Variant T ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctct GACCTGTCGAGT CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAgacctgtcgagtAGATCGAGACCCGACGC chr13:31645243-Variant-T;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Variant T ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctct CGTCCGTCTAGA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAcgtccgtctagaAGATCGAGACCCGACGC chr13:31645243-Variant-T;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative G ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctct ACTAACGTCACG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAactaacgtcacgAGATCGAGACCCGACGC chr13:31645243-Alternative-G;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Reference C ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctct GGACCATATATC CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAggaccatatatcAGATCGAGACCCGACGC chr13:31645243-Reference-C;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative G ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctct GGCGAACATTAA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAggcgaacattaaAGATCGAGACCCGACGC chr13:31645243-Alternative-G;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Variant T ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctct GGTCACTTACGG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAggtcacttacggAGATCGAGACCCGACGC chr13:31645243-Variant-T;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative A ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctct GTACTTGGTACA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAgtacttggtacaAGATCGAGACCCGACGC chr13:31645243-Alternative-A;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Reference C ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctct GACGTACTATCA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAgacgtactatcaAGATCGAGACCCGACGC chr13:31645243-Reference-C;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative A ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctct GTACTCTTGCAT CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAgtactcttgcatAGATCGAGACCCGACGC chr13:31645243-Alternative-A;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Variant T ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctct AGACCAACGAAT CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaTaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAagaccaacgaatAGATCGAGACCCGACGC chr13:31645243-Variant-T;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Reference C ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctct AACCGTGTTGCG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaCaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAaaccgtgttgcgAGATCGAGACCCGACGC chr13:31645243-Reference-C;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative A ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctct AATGCGGAGCGA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAaatgcggagcgaAGATCGAGACCCGACGC chr13:31645243-Alternative-A;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative G ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctct CGTCTTGGATGG CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAcgtcttggatggAGATCGAGACCCGACGC chr13:31645243-Alternative-G;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative G ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctct CTAGTCACAGGT CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaGaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAActagtcacaggtAGATCGAGACCCGACGC chr13:31645243-Alternative-G;Patient-87 chr13:31645243-CT Inherited Patient-87 intergenic 0.000127 0.000513 -0.55 0.06 -5.04 HSPH1 90873 Alternative A ttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctct CGATGAGAGCAA CGACGCGGTCTCTCTCTttctgtccatctcttcttccttctcacatcacagaaacctgaggtcactaAaattgcttacagctctaaactattatgatttcattgaacaagtctctctAGAGGGAGACGGACGTCTCAATAAcgatgagagcaaAGATCGAGACCCGACGC chr13:31645243-Alternative-A;Patient-87 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative C ttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa AGTGATCAAGGT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAagtgatcaaggtAGATCGAGACCCGACGC chr13:31720417-Alternative-C;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative C ttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CGCACGCAACTA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcgcacgcaactaAGATCGAGACCCGACGC chr13:31720417-Alternative-C;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative C ttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CTTAGCCACGTC CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAActtagccacgtcAGATCGAGACCCGACGC chr13:31720417-Alternative-C;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative C ttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa GCGTTCTCGGAA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAgcgttctcggaaAGATCGAGACCCGACGC chr13:31720417-Alternative-C;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative C ttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CGAACGTAACGG CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaCgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcgaacgtaacggAGATCGAGACCCGACGC chr13:31720417-Alternative-C;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Variant A ttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CGTAACCGACCA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcgtaaccgaccaAGATCGAGACCCGACGC chr13:31720417-Variant-A;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Variant A ttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CGATCGCTTAGG CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcgatcgcttaggAGATCGAGACCCGACGC chr13:31720417-Variant-A;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Variant A ttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CTAAGACCTCAA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAActaagacctcaaAGATCGAGACCCGACGC chr13:31720417-Variant-A;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Variant A ttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa ACAACCTTCACG CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAacaaccttcacgAGATCGAGACCCGACGC chr13:31720417-Variant-A;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Variant A ttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa AGCGGCTGTAAC CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaAgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAagcggctgtaacAGATCGAGACCCGACGC chr13:31720417-Variant-A;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Reference T ttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa GTCATTCCAACA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAgtcattccaacaAGATCGAGACCCGACGC chr13:31720417-Reference-T;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Reference T ttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CGTTACGAATGT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcgttacgaatgtAGATCGAGACCCGACGC chr13:31720417-Reference-T;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Reference T ttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa GACCATGGACGA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAgaccatggacgaAGATCGAGACCCGACGC chr13:31720417-Reference-T;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Reference T ttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa ACGTACCAAGTT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAacgtaccaagttAGATCGAGACCCGACGC chr13:31720417-Reference-T;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Reference T ttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CTTACGCGATAT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaTgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAActtacgcgatatAGATCGAGACCCGACGC chr13:31720417-Reference-T;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative G ttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CATGTTGGATGT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcatgttggatgtAGATCGAGACCCGACGC chr13:31720417-Alternative-G;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative G ttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CTTACGTGGTAA CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAActtacgtggtaaAGATCGAGACCCGACGC chr13:31720417-Alternative-G;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative G ttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa AGGCCATCGCAT CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAaggccatcgcatAGATCGAGACCCGACGC chr13:31720417-Alternative-G;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative G ttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa GTAGCTTACCGG CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAgtagcttaccggAGATCGAGACCCGACGC chr13:31720417-Alternative-G;Patient-30 chr13:31720417-TA Inherited Patient-30 intronic HSPH1 0.000255 9.9e-05 NA NA NA HSPH1 15699 Alternative G ttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaa CACAACTGAATC CGACGCGGTCTCTCTCTttctacctagtctttaccaaattgaagtcctctaatatatactataactaGgacctcttaaaatatatacacttgaaattaatcttagcatgccataaaaAGAGGGAGACGGACGTCTCAATAAcacaactgaatcAGATCGAGACCCGACGC chr13:31720417-Alternative-G;Patient-30 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative G tatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt AGGCGTCCTGAA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAaggcgtcctgaaAGATCGAGACCCGACGC chr13:34283871-Alternative-G;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative G tatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ACTTCAGAATCG CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAacttcagaatcgAGATCGAGACCCGACGC chr13:34283871-Alternative-G;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative T tatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ACACCTACCGTC CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAacacctaccgtcAGATCGAGACCCGACGC chr13:34283871-Alternative-T;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative T tatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GTGTTGCATCTT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgtgttgcatcttAGATCGAGACCCGACGC chr13:34283871-Alternative-T;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative T tatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ACCTATCAACAC CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAacctatcaacacAGATCGAGACCCGACGC chr13:34283871-Alternative-T;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Variant A tatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GTTCCGACACAG CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgttccgacacagAGATCGAGACCCGACGC chr13:34283871-Variant-A;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Variant A tatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GCGAGCTAGCTA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgcgagctagctaAGATCGAGACCCGACGC chr13:34283871-Variant-A;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative T tatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ACTACGCGATTA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAactacgcgattaAGATCGAGACCCGACGC chr13:34283871-Alternative-T;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Reference C tatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt CGCGTATACTAT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAcgcgtatactatAGATCGAGACCCGACGC chr13:34283871-Reference-C;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative G tatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GCAATCCGCGAA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgcaatccgcgaaAGATCGAGACCCGACGC chr13:34283871-Alternative-G;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative T tatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt CAGCTAGGTCGT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaTtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAcagctaggtcgtAGATCGAGACCCGACGC chr13:34283871-Alternative-T;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Variant A tatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GCGCACAAGTCA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgcgcacaagtcaAGATCGAGACCCGACGC chr13:34283871-Variant-A;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Reference C tatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GTCCGAACGTGA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgtccgaacgtgaAGATCGAGACCCGACGC chr13:34283871-Reference-C;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Variant A tatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GTCGGCCAAGTT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgtcggccaagttAGATCGAGACCCGACGC chr13:34283871-Variant-A;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative G tatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ATTCACCACCAT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAattcaccaccatAGATCGAGACCCGACGC chr13:34283871-Alternative-G;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Reference C tatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt AGTATCGCCGCT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAagtatcgccgctAGATCGAGACCCGACGC chr13:34283871-Reference-C;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Reference C tatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GGACTTCCTAAT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAggacttcctaatAGATCGAGACCCGACGC chr13:34283871-Reference-C;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Reference C tatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt CGGAATTGACTT CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaCtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAcggaattgacttAGATCGAGACCCGACGC chr13:34283871-Reference-C;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Variant A tatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt ACGCAAGATGAA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaAtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAacgcaagatgaaAGATCGAGACCCGACGC chr13:34283871-Variant-A;Patient-89 chr13:34283871-CA Inherited Patient-89 intergenic 0.000382 0.00103 -0.35 0.26 -3.14 STARD13 32938 Alternative G tatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgtt GCGAGAATGCGA CGACGCGGTCTCTCTCTtatttatatttttctagaagctgctaatagttaaatgatccattttagcaGtggtttgattaaataaagaaactagaagacagaaaaactctataatgttAGAGGGAGACGGACGTCTCAATAAgcgagaatgcgaAGATCGAGACCCGACGC chr13:34283871-Alternative-G;Patient-89 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Reference C ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GATGATGCATGA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgatgatgcatgaAGATCGAGACCCGACGC chr13:34480692-Reference-C;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Reference C ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GACGTTAGTGTT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgacgttagtgttAGATCGAGACCCGACGC chr13:34480692-Reference-C;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative G ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GGATCACACGCT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAggatcacacgctAGATCGAGACCCGACGC chr13:34480692-Alternative-G;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Reference C ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggcta ATCTCTTGGTCA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAatctcttggtcaAGATCGAGACCCGACGC chr13:34480692-Reference-C;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative A ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CGACTTCTGGAG CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAcgacttctggagAGATCGAGACCCGACGC chr13:34480692-Alternative-A;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Reference C ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CAACGTCCTTCG CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAcaacgtccttcgAGATCGAGACCCGACGC chr13:34480692-Reference-C;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative A ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CGGTGAACATCG CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAcggtgaacatcgAGATCGAGACCCGACGC chr13:34480692-Alternative-A;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Reference C ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GCACGATATACT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaCtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgcacgatatactAGATCGAGACCCGACGC chr13:34480692-Reference-C;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative A ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CTAAGCTTCGTT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAActaagcttcgttAGATCGAGACCCGACGC chr13:34480692-Alternative-A;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative G ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CAACCGCCAATC CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAcaaccgccaatcAGATCGAGACCCGACGC chr13:34480692-Alternative-G;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative G ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggcta CAACGTAGGACG CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAcaacgtaggacgAGATCGAGACCCGACGC chr13:34480692-Alternative-G;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative G ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggcta ATCCGTATGCCG CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAatccgtatgccgAGATCGAGACCCGACGC chr13:34480692-Alternative-G;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative A ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GGCGCCACATAA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAggcgccacataaAGATCGAGACCCGACGC chr13:34480692-Alternative-A;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative A ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GCCGCGTTGTTA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaAtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgccgcgttgttaAGATCGAGACCCGACGC chr13:34480692-Alternative-A;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Alternative G ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggcta AGCCAGGATCCA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaGtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAagccaggatccaAGATCGAGACCCGACGC chr13:34480692-Alternative-G;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Variant T ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GATGGACGATAT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgatggacgatatAGATCGAGACCCGACGC chr13:34480692-Variant-T;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Variant T ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggcta ATCCGAGTGCGA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAatccgagtgcgaAGATCGAGACCCGACGC chr13:34480692-Variant-T;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Variant T ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GTGCTTGATAAC CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgtgcttgataacAGATCGAGACCCGACGC chr13:34480692-Variant-T;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Variant T ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggcta GAAGTGAACCTT CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAgaagtgaaccttAGATCGAGACCCGACGC chr13:34480692-Variant-T;Patient-23 chr13:34480692-CT DeNovo Patient-23 intronic RFC3 NA 4.95e-05 0.14 4.87 1.64 RFC3 88485 Variant T ctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggcta ATCCTCGCTCGA CGACGCGGTCTCTCTCTctcaaattattattttaatagaatcagccatcatcttgcagtctgtttaaTtgttgacttttattttcatttgcatatattcccttttatgaaagggctaAGAGGGAGACGGACGTCTCAATAAatcctcgctcgaAGATCGAGACCCGACGC chr13:34480692-Variant-T;Patient-23 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Reference T tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct GTTCAAGTGACT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAgttcaagtgactAGATCGAGACCCGACGC chr13:36721398-Reference-T;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Reference T tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CGTTAGCACGTC CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAcgttagcacgtcAGATCGAGACCCGACGC chr13:36721398-Reference-T;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Reference T tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ACTCTAGCTACG CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAactctagctacgAGATCGAGACCCGACGC chr13:36721398-Reference-T;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Reference T tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct AAGACGAACGAA CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAaagacgaacgaaAGATCGAGACCCGACGC chr13:36721398-Reference-T;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Variant G tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CGAGCCTACGAT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAcgagcctacgatAGATCGAGACCCGACGC chr13:36721398-Variant-G;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative A tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct AAGGTTGCGGAG CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAaaggttgcggagAGATCGAGACCCGACGC chr13:36721398-Alternative-A;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Reference T tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CGTCTAGCACCT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaTgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAcgtctagcacctAGATCGAGACCCGACGC chr13:36721398-Reference-T;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Variant G tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct GTTAGCCTGGAT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAgttagcctggatAGATCGAGACCCGACGC chr13:36721398-Variant-G;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Variant G tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ATTCGCTTAGCT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAattcgcttagctAGATCGAGACCCGACGC chr13:36721398-Variant-G;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative C tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ACTCCGGTTGGT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAactccggttggtAGATCGAGACCCGACGC chr13:36721398-Alternative-C;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Variant G tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct GATAGAGACTGA CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAgatagagactgaAGATCGAGACCCGACGC chr13:36721398-Variant-G;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Variant G tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct AGCCGACATAGT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaGgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAagccgacatagtAGATCGAGACCCGACGC chr13:36721398-Variant-G;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative A tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CTGGTCGACATT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAActggtcgacattAGATCGAGACCCGACGC chr13:36721398-Alternative-A;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative A tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CTAGGCGGTGAT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAActaggcggtgatAGATCGAGACCCGACGC chr13:36721398-Alternative-A;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative A tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ACGCGGCAGATA CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAacgcggcagataAGATCGAGACCCGACGC chr13:36721398-Alternative-A;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative C tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct GTCATTCGACGG CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAgtcattcgacggAGATCGAGACCCGACGC chr13:36721398-Alternative-C;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative C tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct CGAGCTCAATGA CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAcgagctcaatgaAGATCGAGACCCGACGC chr13:36721398-Alternative-C;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative C tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ATCACCATCGTT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAatcaccatcgttAGATCGAGACCCGACGC chr13:36721398-Alternative-C;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative C tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct ATCAAGGTCTGT CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaCgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAatcaaggtctgtAGATCGAGACCCGACGC chr13:36721398-Alternative-C;Patient-54 chr13:36721398-TG Inherited Patient-54 intergenic 0.000574 0.004102564 -0.1 1.39 -0.24 DCLK1 15883 Alternative A tcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacct GTACCAATGCGG CGACGCGGTCTCTCTCTtcataaagggtgactgggaaatgctgaagaaattttaatttaaaaacaaaAgagaattgaaatatagaaaacactaggcttgtttggcattctaaaacctAGAGGGAGACGGACGTCTCAATAAgtaccaatgcggAGATCGAGACCCGACGC chr13:36721398-Alternative-A;Patient-54 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative G taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GGCTACGTGGAA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAggctacgtggaaAGATCGAGACCCGACGC chr13:36918896-Alternative-G;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Variant A taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CGGCATAAGCGA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcggcataagcgaAGATCGAGACCCGACGC chr13:36918896-Variant-A;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Reference T taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CGGAACGTAATA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcggaacgtaataAGATCGAGACCCGACGC chr13:36918896-Reference-T;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative C taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CGAAGTAACCGC CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcgaagtaaccgcAGATCGAGACCCGACGC chr13:36918896-Alternative-C;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative C taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GGAAGTTGATAC CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAggaagttgatacAGATCGAGACCCGACGC chr13:36918896-Alternative-C;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Reference T taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GTTATAGTACGG CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAgttatagtacggAGATCGAGACCCGACGC chr13:36918896-Reference-T;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Variant A taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CGTCACCGATAA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcgtcaccgataaAGATCGAGACCCGACGC chr13:36918896-Variant-A;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Reference T taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CAATGCGAATCA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcaatgcgaatcaAGATCGAGACCCGACGC chr13:36918896-Reference-T;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Variant A taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CTACGGTAAGAA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAActacggtaagaaAGATCGAGACCCGACGC chr13:36918896-Variant-A;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative G taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CAATGTCCATCG CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcaatgtccatcgAGATCGAGACCCGACGC chr13:36918896-Alternative-G;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Reference T taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca ATACGCATCAGT CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAatacgcatcagtAGATCGAGACCCGACGC chr13:36918896-Reference-T;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Reference T taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GTATTCGCCGTC CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattTcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAgtattcgccgtcAGATCGAGACCCGACGC chr13:36918896-Reference-T;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative C taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca ACGTGAATACGA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAacgtgaatacgaAGATCGAGACCCGACGC chr13:36918896-Alternative-C;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative C taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca AGGTGTATTGAG CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAaggtgtattgagAGATCGAGACCCGACGC chr13:36918896-Alternative-C;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative G taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca ACAACGACAGTT CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAacaacgacagttAGATCGAGACCCGACGC chr13:36918896-Alternative-G;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Variant A taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GACGATCTGCGT CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAgacgatctgcgtAGATCGAGACCCGACGC chr13:36918896-Variant-A;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative G taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca ACAAGGTTGAGT CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAacaaggttgagtAGATCGAGACCCGACGC chr13:36918896-Alternative-G;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative C taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GTGTAGCATCTA CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattCcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAgtgtagcatctaAGATCGAGACCCGACGC chr13:36918896-Alternative-C;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Variant A taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca GGCGGTATATGG CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattAcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAggcggtatatggAGATCGAGACCCGACGC chr13:36918896-Variant-A;Patient-89 chr13:36918896-TA Inherited Patient-89 intronic SPART 0.000159 0.00016 0.34 7.73 1.94 SPART 25420 Alternative G taagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgaca CGATACCGTACC CGACGCGGTCTCTCTCTtaagtgtcaatcaagtgtcctgaaaagataaaaaccattatcacattattGcacattatttaattttcaaagttaagaagacaaagtctttgaaatgacaAGAGGGAGACGGACGTCTCAATAAcgataccgtaccAGATCGAGACCCGACGC chr13:36918896-Alternative-G;Patient-89 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Reference C cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggca AATCAACGCGCG CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAaatcaacgcgcgAGATCGAGACCCGACGC chr13:37044450-Reference-C;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Reference C cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggca ATAAGGCTGTTC CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAataaggctgttcAGATCGAGACCCGACGC chr13:37044450-Reference-C;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Reference C cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggca CGTCAATCAACA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcgtcaatcaacaAGATCGAGACCCGACGC chr13:37044450-Reference-C;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Variant A cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggca CATGTCTGTTGT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcatgtctgttgtAGATCGAGACCCGACGC chr13:37044450-Variant-A;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Variant A cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggca CATGCGATACGT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcatgcgatacgtAGATCGAGACCCGACGC chr13:37044450-Variant-A;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Reference C cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggca CGGCATTAATGT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcggcattaatgtAGATCGAGACCCGACGC chr13:37044450-Reference-C;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Variant A cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggca GACCGCATATAC CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAgaccgcatatacAGATCGAGACCCGACGC chr13:37044450-Variant-A;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Reference C cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggca CTATCGGAGCGA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccCtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAActatcggagcgaAGATCGAGACCCGACGC chr13:37044450-Reference-C;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative G cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggca AGTATCCGTGAT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAagtatccgtgatAGATCGAGACCCGACGC chr13:37044450-Alternative-G;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative G cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggca CGCACGGATGAA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcgcacggatgaaAGATCGAGACCCGACGC chr13:37044450-Alternative-G;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Variant A cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggca AGCGGAACCTAA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAagcggaacctaaAGATCGAGACCCGACGC chr13:37044450-Variant-A;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative T cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggca GTCAACACCATA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAgtcaacaccataAGATCGAGACCCGACGC chr13:37044450-Alternative-T;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative T cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggca CGGTCGCAACTA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcggtcgcaactaAGATCGAGACCCGACGC chr13:37044450-Alternative-T;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative G cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggca ACCGTGCGCTAT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAaccgtgcgctatAGATCGAGACCCGACGC chr13:37044450-Alternative-G;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative T cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggca ACGTTCGTCCAT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAacgttcgtccatAGATCGAGACCCGACGC chr13:37044450-Alternative-T;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative T cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggca GATATAGCGGAA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAgatatagcggaaAGATCGAGACCCGACGC chr13:37044450-Alternative-T;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative G cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggca CATAAGACGCGG CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcataagacgcggAGATCGAGACCCGACGC chr13:37044450-Alternative-G;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Variant A cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggca ACGTGTTGGCGT CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccAtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAacgtgttggcgtAGATCGAGACCCGACGC chr13:37044450-Variant-A;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative T cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggca CAACGAGGATTA CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccTtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAcaacgaggattaAGATCGAGACCCGACGC chr13:37044450-Alternative-T;Patient-8 chr13:37044450-CA DeNovo Patient-8 intergenic NA 0.000513 -0.12 1.25 0 CCNA1 38482 Alternative G cctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggca GTGTTACACGCG CGACGCGGTCTCTCTCTcctcttttcccaatcgaataccctttatttccttctcctgcctgattgccGtggccagaaattccaacactatgttgaataggagtggtgagagagggcaAGAGGGAGACGGACGTCTCAATAAgtgttacacgcgAGATCGAGACCCGACGC chr13:37044450-Alternative-G;Patient-8 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Reference G gaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GTATCCGAGTCG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAgtatccgagtcgAGATCGAGACCCGACGC chr13:37697259-Reference-G;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative C gaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat ATAGATTCGCGC CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAatagattcgcgcAGATCGAGACCCGACGC chr13:37697259-Alternative-C;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Reference G gaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat ATTACCACCGCG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAattaccaccgcgAGATCGAGACCCGACGC chr13:37697259-Reference-G;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Reference G gaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GGTTGACGTTCG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAggttgacgttcgAGATCGAGACCCGACGC chr13:37697259-Reference-G;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative C gaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CAGTACACACGT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcagtacacacgtAGATCGAGACCCGACGC chr13:37697259-Alternative-C;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Reference G gaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat AGTGACCGTCGT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAagtgaccgtcgtAGATCGAGACCCGACGC chr13:37697259-Reference-G;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative T gaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat AACCACGGATAA CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAaaccacggataaAGATCGAGACCCGACGC chr13:37697259-Alternative-T;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Variant A gaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CGCAACAATAAG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcgcaacaataagAGATCGAGACCCGACGC chr13:37697259-Variant-A;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative C gaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CGACACACGCAT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcgacacacgcatAGATCGAGACCCGACGC chr13:37697259-Alternative-C;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Reference G gaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat AACTAAGGACGG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacGatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAaactaaggacggAGATCGAGACCCGACGC chr13:37697259-Reference-G;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative T gaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CGATCGCAGGTT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcgatcgcaggttAGATCGAGACCCGACGC chr13:37697259-Alternative-T;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative T gaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GGTGAACAGCGT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAggtgaacagcgtAGATCGAGACCCGACGC chr13:37697259-Alternative-T;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Variant A gaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GTAAGGAACACG CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAgtaaggaacacgAGATCGAGACCCGACGC chr13:37697259-Variant-A;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative C gaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat AGACTACGCAAT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAagactacgcaatAGATCGAGACCCGACGC chr13:37697259-Alternative-C;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative C gaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GCATCGTCGTTC CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacCatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAgcatcgtcgttcAGATCGAGACCCGACGC chr13:37697259-Alternative-C;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Variant A gaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat AACTACCGGATT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAaactaccggattAGATCGAGACCCGACGC chr13:37697259-Variant-A;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative T gaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CGCTTCTCGGAT CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcgcttctcggatAGATCGAGACCCGACGC chr13:37697259-Alternative-T;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Alternative T gaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CAATGTGCGTGC CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacTatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAcaatgtgcgtgcAGATCGAGACCCGACGC chr13:37697259-Alternative-T;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Variant A gaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat CTCTGAAGCTAA CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAActctgaagctaaAGATCGAGACCCGACGC chr13:37697259-Variant-A;Patient-88 chr13:37697259-GA DeNovo Patient-88 intergenic NA 0.000513 0.01 2.81 -0.32 CSNK1A1L 17457 Variant A gaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttat GAGTAATACGCA CGACGCGGTCTCTCTCTgaaatagttttgaatctatagattgtttagggcagtagggccattttaacAatattgactcttccgtccatgaacgtggaatgtttttccatttgtttatAGAGGGAGACGGACGTCTCAATAAgagtaatacgcaAGATCGAGACCCGACGC chr13:37697259-Variant-A;Patient-88 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Reference G tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatac GATATACTCGAC CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgatatactcgacAGATCGAGACCCGACGC chr13:37735499-Reference-G;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Reference G tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatac AACGCTGGACAG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAaacgctggacagAGATCGAGACCCGACGC chr13:37735499-Reference-G;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative T tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatac GCGTAACGATAT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgcgtaacgatatAGATCGAGACCCGACGC chr13:37735499-Alternative-T;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Reference G tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatac GACGAATAGGTT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgacgaataggttAGATCGAGACCCGACGC chr13:37735499-Reference-G;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Reference G tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatac CGAATAACGGCG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAcgaataacggcgAGATCGAGACCCGACGC chr13:37735499-Reference-G;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative T tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatac GTACTATGGACG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgtactatggacgAGATCGAGACCCGACGC chr13:37735499-Alternative-T;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative T tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatac CGTAGGATACTT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAcgtaggatacttAGATCGAGACCCGACGC chr13:37735499-Alternative-T;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative A tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatac ACGCCATTGTGG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAacgccattgtggAGATCGAGACCCGACGC chr13:37735499-Alternative-A;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative T tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatac CTCAAGGTTAAG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAActcaaggttaagAGATCGAGACCCGACGC chr13:37735499-Alternative-T;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative T tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatac GCGATCGCTAAG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactTctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgcgatcgctaagAGATCGAGACCCGACGC chr13:37735499-Alternative-T;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Variant C tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatac GAGTGTCCGAAC CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgagtgtccgaacAGATCGAGACCCGACGC chr13:37735499-Variant-C;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Reference G tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatac CACGAACCTTCG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactGctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAcacgaaccttcgAGATCGAGACCCGACGC chr13:37735499-Reference-G;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative A tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatac AGCCAGGATAAT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAagccaggataatAGATCGAGACCCGACGC chr13:37735499-Alternative-A;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative A tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatac ATTGTTCTACGC CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAattgttctacgcAGATCGAGACCCGACGC chr13:37735499-Alternative-A;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Variant C tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatac AATACCGTCGAT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAaataccgtcgatAGATCGAGACCCGACGC chr13:37735499-Variant-C;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative A tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatac GTAAGCATGCGG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgtaagcatgcggAGATCGAGACCCGACGC chr13:37735499-Alternative-A;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Variant C tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatac GACGGTGAACGT CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAgacggtgaacgtAGATCGAGACCCGACGC chr13:37735499-Variant-C;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Alternative A tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatac AAGATTGGTAGG CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactActggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAaagattggtaggAGATCGAGACCCGACGC chr13:37735499-Alternative-A;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Variant C tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatac AGCATTCAGTAC CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAagcattcagtacAGATCGAGACCCGACGC chr13:37735499-Variant-C;Patient-32 chr13:37735499-GC DeNovo Patient-32 intergenic NA 0.000513 -0.14 1.05 -0.74 CSNK1A1L 55697 Variant C tatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatac CACGACTCTATA CGACGCGGTCTCTCTCTtatttttaagtttctgttttcagttcttttgggcgtgtaccaaaggaactCctggatcatatggtagttctatttttagttttttgaagaacttccatacAGAGGGAGACGGACGTCTCAATAAcacgactctataAGATCGAGACCCGACGC chr13:37735499-Variant-C;Patient-32 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative G ttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaata CGCTTAGTTACG CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAcgcttagttacgAGATCGAGACCCGACGC chr13:38931825-Alternative-G;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative G ttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaata AGGCCAATAGAT CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAaggccaatagatAGATCGAGACCCGACGC chr13:38931825-Alternative-G;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative G ttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaata AGCTTCTCATAC CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAagcttctcatacAGATCGAGACCCGACGC chr13:38931825-Alternative-G;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Variant T ttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaata CAGCGGTGTCTA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAcagcggtgtctaAGATCGAGACCCGACGC chr13:38931825-Variant-T;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Reference C ttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaata CATATGCGCATT CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAcatatgcgcattAGATCGAGACCCGACGC chr13:38931825-Reference-C;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative G ttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaata ACCTATCTAACC CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAacctatctaaccAGATCGAGACCCGACGC chr13:38931825-Alternative-G;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative A ttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaata GGAACTAGACGA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAggaactagacgaAGATCGAGACCCGACGC chr13:38931825-Alternative-A;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Variant T ttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaata GTTCCAGTTATC CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAgttccagttatcAGATCGAGACCCGACGC chr13:38931825-Variant-T;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Variant T ttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaata GATTGACTCCGA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAgattgactccgaAGATCGAGACCCGACGC chr13:38931825-Variant-T;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative G ttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaata ACGTAATCGTGT CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggGgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAacgtaatcgtgtAGATCGAGACCCGACGC chr13:38931825-Alternative-G;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Reference C ttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaata AGGCAAGCTAAG CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAaggcaagctaagAGATCGAGACCCGACGC chr13:38931825-Reference-C;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Reference C ttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaata CGACTTAACGAG CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAcgacttaacgagAGATCGAGACCCGACGC chr13:38931825-Reference-C;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Reference C ttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaata GATTCATAAGCG CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAgattcataagcgAGATCGAGACCCGACGC chr13:38931825-Reference-C;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative A ttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaata ACGACGCTTATA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAacgacgcttataAGATCGAGACCCGACGC chr13:38931825-Alternative-A;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative A ttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaata CGGAGTGTCTGA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAcggagtgtctgaAGATCGAGACCCGACGC chr13:38931825-Alternative-A;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Variant T ttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaata GTATTGACGCAA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAgtattgacgcaaAGATCGAGACCCGACGC chr13:38931825-Variant-T;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Variant T ttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaata GGACGCGTACTA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggTgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAggacgcgtactaAGATCGAGACCCGACGC chr13:38931825-Variant-T;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Reference C ttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaata GTAGTCGACGCT CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggCgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAgtagtcgacgctAGATCGAGACCCGACGC chr13:38931825-Reference-C;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative A ttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaata ACGATTATGTGC CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAAacgattatgtgcAGATCGAGACCCGACGC chr13:38931825-Alternative-A;Patient-58 chr13:38931825-CT DeNovo Patient-58 intronic UFM1 6.4e-05 9.9e-05 -0.62 0.04 -0.69 UFM1 7882 Alternative A ttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaata CTATCCGCTGCA CGACGCGGTCTCTCTCTttactaatagcctactgttgactggaagccttactgataacacagacaggAgattaatatgtattttgttatgtgtattatatactgtattcttacaataAGAGGGAGACGGACGTCTCAATAActatccgctgcaAGATCGAGACCCGACGC chr13:38931825-Alternative-A;Patient-58 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative G taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattcca GCAGCTAGAATT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgcagctagaattAGATCGAGACCCGACGC chr13:38988824-Alternative-G;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative A taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattcca GTATCCAACGGT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgtatccaacggtAGATCGAGACCCGACGC chr13:38988824-Alternative-A;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative A taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattcca CACACGTACGCT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAcacacgtacgctAGATCGAGACCCGACGC chr13:38988824-Alternative-A;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Reference T taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattcca GAATCAGGACAG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgaatcaggacagAGATCGAGACCCGACGC chr13:38988824-Reference-T;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative G taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattcca ATAGACAACGAC CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAatagacaacgacAGATCGAGACCCGACGC chr13:38988824-Alternative-G;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative G taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattcca AGCATATCGTGG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAagcatatcgtggAGATCGAGACCCGACGC chr13:38988824-Alternative-G;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Reference T taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattcca CTATCGAACCGC CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAActatcgaaccgcAGATCGAGACCCGACGC chr13:38988824-Reference-T;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Reference T taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattcca GCAGGTGAGTAA CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgcaggtgagtaaAGATCGAGACCCGACGC chr13:38988824-Reference-T;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative A taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattcca GTGAACCTAGCG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgtgaacctagcgAGATCGAGACCCGACGC chr13:38988824-Alternative-A;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative G taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattcca GACTACCAGTAC CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgactaccagtacAGATCGAGACCCGACGC chr13:38988824-Alternative-G;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative A taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattcca GACCAATTGGAA CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAgaccaattggaaAGATCGAGACCCGACGC chr13:38988824-Alternative-A;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative G taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattcca AGCTTACTTAGG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcGcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAagcttacttaggAGATCGAGACCCGACGC chr13:38988824-Alternative-G;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Alternative A taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattcca ATTAAGCCACGT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcAcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAattaagccacgtAGATCGAGACCCGACGC chr13:38988824-Alternative-A;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Variant C taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattcca CGTTATTCTGAC CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAcgttattctgacAGATCGAGACCCGACGC chr13:38988824-Variant-C;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Variant C taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattcca GGAACCTCGTAA CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAggaacctcgtaaAGATCGAGACCCGACGC chr13:38988824-Variant-C;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Reference T taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattcca CGTATGAACAAG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAcgtatgaacaagAGATCGAGACCCGACGC chr13:38988824-Reference-T;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Reference T taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattcca CTCACGCATATT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcTcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAActcacgcatattAGATCGAGACCCGACGC chr13:38988824-Reference-T;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Variant C taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattcca CGAACAGCATGC CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAcgaacagcatgcAGATCGAGACCCGACGC chr13:38988824-Variant-C;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Variant C taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattcca ACGCGTCATAAT CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAacgcgtcataatAGATCGAGACCCGACGC chr13:38988824-Variant-C;Patient-37 chr13:38988824-TC DeNovo Patient-37 intergenic 0.000999 0.002564103 -0.14 1.1 -0.08 UFM1 64881 Variant C taatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattcca GGAACTTCTCGG CGACGCGGTCTCTCTCTtaatcttgtttcctacgatctagaaaaaacataatcttgaatgaaaaagcCcagtataaaataaaatgttatattatttcatttatgttatattattccaAGAGGGAGACGGACGTCTCAATAAggaacttctcggAGATCGAGACCCGACGC chr13:38988824-Variant-C;Patient-37 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Variant G tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CTCGTAACGTGG CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAActcgtaacgtggAGATCGAGACCCGACGC chr13:39175895-Variant-G;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Variant G tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccct GTAAGGTACTGA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAgtaaggtactgaAGATCGAGACCCGACGC chr13:39175895-Variant-G;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative T tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CGGAGTCTCCTA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcggagtctcctaAGATCGAGACCCGACGC chr13:39175895-Alternative-T;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Variant G tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CAGATTGAGTAC CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcagattgagtacAGATCGAGACCCGACGC chr13:39175895-Variant-G;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative T tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CGTTGCTCTCGA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcgttgctctcgaAGATCGAGACCCGACGC chr13:39175895-Alternative-T;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative T tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CACGCTACTGCT CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcacgctactgctAGATCGAGACCCGACGC chr13:39175895-Alternative-T;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Variant G tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccct ACACAGATGGAG CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAacacagatggagAGATCGAGACCCGACGC chr13:39175895-Variant-G;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative A tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccct GCGAACGCAATC CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAgcgaacgcaatcAGATCGAGACCCGACGC chr13:39175895-Alternative-A;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative A tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CGATAACAAGCA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcgataacaagcaAGATCGAGACCCGACGC chr13:39175895-Alternative-A;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative A tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CTTGATCACCAT CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAActtgatcaccatAGATCGAGACCCGACGC chr13:39175895-Alternative-A;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Variant G tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccct ACCGTAGACCGT CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcGaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAaccgtagaccgtAGATCGAGACCCGACGC chr13:39175895-Variant-G;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative T tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CATCAGGTAGCG CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcatcaggtagcgAGATCGAGACCCGACGC chr13:39175895-Alternative-T;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative A tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccct AGGCGGTCGTAA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAaggcggtcgtaaAGATCGAGACCCGACGC chr13:39175895-Alternative-A;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative T tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CAGAGCTCGGAA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcTaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcagagctcggaaAGATCGAGACCCGACGC chr13:39175895-Alternative-T;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Alternative A tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccct GACTAAGCCTGG CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcAaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAgactaagcctggAGATCGAGACCCGACGC chr13:39175895-Alternative-A;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Reference C tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccct AGGCGTACGACT CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAaggcgtacgactAGATCGAGACCCGACGC chr13:39175895-Reference-C;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Reference C tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccct AACTACGCTGCG CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAaactacgctgcgAGATCGAGACCCGACGC chr13:39175895-Reference-C;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Reference C tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccct GGACGGTCATGA CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAggacggtcatgaAGATCGAGACCCGACGC chr13:39175895-Reference-C;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Reference C tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccct ATCGCTAAGCAT CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAatcgctaagcatAGATCGAGACCCGACGC chr13:39175895-Reference-C;Patient-61 chr13:39175895-CG Inherited Patient-61 intergenic 0.000351 0.000513 0.04 3.32 0.38 FREM2 85277 Reference C tgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccct CGTCTACGGAAC CGACGCGGTCTCTCTCTtgcatgtatttactgctatcttcaaagaaatcatagtgctacatatatgcCaggcactggactatgttgatgatagaacaatgaataaaatacaatccctAGAGGGAGACGGACGTCTCAATAAcgtctacggaacAGATCGAGACCCGACGC chr13:39175895-Reference-C;Patient-61 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Variant T tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggcttt GGAACTATACAG CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAggaactatacagAGATCGAGACCCGACGC chr13:39319754-Variant-T;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative G tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggcttt CGAATCGAAGTT CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAcgaatcgaagttAGATCGAGACCCGACGC chr13:39319754-Alternative-G;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Variant T tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggcttt CTAGTGAATGCA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAActagtgaatgcaAGATCGAGACCCGACGC chr13:39319754-Variant-T;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative A tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggcttt ACTTGGTCATGA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAacttggtcatgaAGATCGAGACCCGACGC chr13:39319754-Alternative-A;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Variant T tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggcttt AAGGCGCGAGAT CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAaaggcgcgagatAGATCGAGACCCGACGC chr13:39319754-Variant-T;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative A tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggcttt ACGCTTGGAAGG CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAacgcttggaaggAGATCGAGACCCGACGC chr13:39319754-Alternative-A;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative G tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGGAACTAAGTC CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAaggaactaagtcAGATCGAGACCCGACGC chr13:39319754-Alternative-G;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative G tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggcttt ATAAGACCGTGA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAataagaccgtgaAGATCGAGACCCGACGC chr13:39319754-Alternative-G;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Variant T tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggcttt GCGAAGTCGTAC CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAgcgaagtcgtacAGATCGAGACCCGACGC chr13:39319754-Variant-T;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative A tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggcttt ATAGCTTGTGCA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAatagcttgtgcaAGATCGAGACCCGACGC chr13:39319754-Alternative-A;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Reference C tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGCTGGTCGAGA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAagctggtcgagaAGATCGAGACCCGACGC chr13:39319754-Reference-C;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Variant T tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggcttt ATCGGCATGCCT CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcTgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAatcggcatgcctAGATCGAGACCCGACGC chr13:39319754-Variant-T;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative A tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggcttt AAGGTTGAGCTA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAaaggttgagctaAGATCGAGACCCGACGC chr13:39319754-Alternative-A;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Reference C tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggcttt ATACCGCGCTAA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAataccgcgctaaAGATCGAGACCCGACGC chr13:39319754-Reference-C;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative A tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggcttt ACGTTAGTATGC CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcAgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAacgttagtatgcAGATCGAGACCCGACGC chr13:39319754-Alternative-A;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Reference C tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGCTCTGTAACA CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAagctctgtaacaAGATCGAGACCCGACGC chr13:39319754-Reference-C;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative G tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGTACCGCCTAC CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAagtaccgcctacAGATCGAGACCCGACGC chr13:39319754-Alternative-G;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Reference C tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggcttt ATAGGTCGTCAT CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAataggtcgtcatAGATCGAGACCCGACGC chr13:39319754-Reference-C;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Reference C tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGCGCATTGTCG CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcCgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAagcgcattgtcgAGATCGAGACCCGACGC chr13:39319754-Reference-C;Patient-55 chr13:39319754-CT Inherited Patient-55 intronic FREM2 0.000287 8.38e-05 -0.06 1.85 -1.94 FREM2 58580 Alternative G tcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggcttt AGCTAATTGTGG CGACGCGGTCTCTCTCTtcctttctccccctctgttgacctaaggagtctaggttggcaccctaatcGgctattttcagggatcaccatagattttccatagaaaacagttggctttAGAGGGAGACGGACGTCTCAATAAagctaattgtggAGATCGAGACCCGACGC chr13:39319754-Alternative-G;Patient-55 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Variant C tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa ACGAGCTCGTTC CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAacgagctcgttcAGATCGAGACCCGACGC chr13:40322300-Variant-C;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Variant C tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CGCCAAGACAGT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAcgccaagacagtAGATCGAGACCCGACGC chr13:40322300-Variant-C;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative G tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CTGTCGCTAGTC CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAActgtcgctagtcAGATCGAGACCCGACGC chr13:40322300-Alternative-G;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Variant C tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa AATGTGCGTTGT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAaatgtgcgttgtAGATCGAGACCCGACGC chr13:40322300-Variant-C;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Variant C tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa ACTTCAGTCGTT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAacttcagtcgttAGATCGAGACCCGACGC chr13:40322300-Variant-C;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Variant C tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CGGTATCTCATA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacCtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAcggtatctcataAGATCGAGACCCGACGC chr13:40322300-Variant-C;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative A tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CTAACGACGTCA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAActaacgacgtcaAGATCGAGACCCGACGC chr13:40322300-Alternative-A;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative A tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CGATTACACTGA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAcgattacactgaAGATCGAGACCCGACGC chr13:40322300-Alternative-A;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative A tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GTGACGGTTGCT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAgtgacggttgctAGATCGAGACCCGACGC chr13:40322300-Alternative-A;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Reference T tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa ACCTTGATATGG CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAaccttgatatggAGATCGAGACCCGACGC chr13:40322300-Reference-T;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative A tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa AAGTGATGACGG CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAaagtgatgacggAGATCGAGACCCGACGC chr13:40322300-Alternative-A;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Reference T tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GGATACGTGTAA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAggatacgtgtaaAGATCGAGACCCGACGC chr13:40322300-Reference-T;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative A tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa CGTCGCTAACAG CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacAtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAcgtcgctaacagAGATCGAGACCCGACGC chr13:40322300-Alternative-A;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative G tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa ACAACCGACTTA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAacaaccgacttaAGATCGAGACCCGACGC chr13:40322300-Alternative-G;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Reference T tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GGTACCTGTCAT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAggtacctgtcatAGATCGAGACCCGACGC chr13:40322300-Reference-T;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Reference T tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GTAACGTATCCA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAgtaacgtatccaAGATCGAGACCCGACGC chr13:40322300-Reference-T;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Reference T tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa AGCGTTGAGGAC CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacTtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAagcgttgaggacAGATCGAGACCCGACGC chr13:40322300-Reference-T;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative G tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GACGAGATGACA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAgacgagatgacaAGATCGAGACCCGACGC chr13:40322300-Alternative-G;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative G tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa AGAACGATACCA CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAagaacgataccaAGATCGAGACCCGACGC chr13:40322300-Alternative-G;Patient-64 chr13:40322300-TC DeNovo Patient-64 intronic COG6 0.000541 4.95e-05 0.07 3.73 -0.17 COG6 92535 Alternative G tgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaa GATATCGTTGGT CGACGCGGTCTCTCTCTtgcgcttagaaaagaactaagaacactgtttctaaaatccagtatctgacGtgttgcaaaagtggatatcaaatgtatgttatatctaacaaagttttaaAGAGGGAGACGGACGTCTCAATAAgatatcgttggtAGATCGAGACCCGACGC chr13:40322300-Alternative-G;Patient-64 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative A tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg CAATTAGCGAGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAcaattagcgagtAGATCGAGACCCGACGC chr13:45051935-Alternative-A;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative G tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GATGACCTGCGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgatgacctgcgtAGATCGAGACCCGACGC chr13:45051935-Alternative-G;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative G tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg CAGGTGTACGAG CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAcaggtgtacgagAGATCGAGACCCGACGC chr13:45051935-Alternative-G;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative A tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg CTAAGGACCGTC CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAActaaggaccgtcAGATCGAGACCCGACGC chr13:45051935-Alternative-A;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative G tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg CTTAAGAGCTGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAActtaagagctgtAGATCGAGACCCGACGC chr13:45051935-Alternative-G;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Reference C tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg ATCCGATATCCT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAatccgatatcctAGATCGAGACCCGACGC chr13:45051935-Reference-C;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Reference C tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GATCAGTAGGAT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgatcagtaggatAGATCGAGACCCGACGC chr13:45051935-Reference-C;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative G tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg CGCGAACTAGGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAcgcgaactaggtAGATCGAGACCCGACGC chr13:45051935-Alternative-G;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Reference C tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GTTGGATTAAGG CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgttggattaaggAGATCGAGACCCGACGC chr13:45051935-Reference-C;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Reference C tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GACGCACGTTGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgacgcacgttgtAGATCGAGACCCGACGC chr13:45051935-Reference-C;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Reference C tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GAGGTACAGATT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaCgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgaggtacagattAGATCGAGACCCGACGC chr13:45051935-Reference-C;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative G tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GAATTGCGTAAG CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaGgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgaattgcgtaagAGATCGAGACCCGACGC chr13:45051935-Alternative-G;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative A tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg ACGATCGAGCGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAacgatcgagcgtAGATCGAGACCCGACGC chr13:45051935-Alternative-A;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Variant T tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg AGATCAAGGACG CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAagatcaaggacgAGATCGAGACCCGACGC chr13:45051935-Variant-T;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative A tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GCGGTGATAATT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgcggtgataattAGATCGAGACCCGACGC chr13:45051935-Alternative-A;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Alternative A tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GTGAGCTTGTCG CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaAgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgtgagcttgtcgAGATCGAGACCCGACGC chr13:45051935-Alternative-A;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Variant T tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg ACACACGTGCAC CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAacacacgtgcacAGATCGAGACCCGACGC chr13:45051935-Variant-T;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Variant T tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg ACGCCAGGTAGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAacgccaggtagtAGATCGAGACCCGACGC chr13:45051935-Variant-T;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Variant T tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg GTGCGAATCCGT CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAgtgcgaatccgtAGATCGAGACCCGACGC chr13:45051935-Variant-T;Patient-54 chr13:45051935-CT Inherited Patient-54 intronic TSC22D1 NA 4.95e-05 -0.12 1.21 -0.47 TSC22D1 98765 Variant T tctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtg ACGACTGTATCA CGACGCGGTCTCTCTCTtctcctgcctcggcctcctgagtagttgggcttacaggcgggtgccaccaTgcctggctaatttttgtatttttagtagagacaggatttcaccttggtgAGAGGGAGACGGACGTCTCAATAAacgactgtatcaAGATCGAGACCCGACGC chr13:45051935-Variant-T;Patient-54 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Reference A aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GACCACGGACTT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgaccacggacttAGATCGAGACCCGACGC chr13:45497993-Reference-A;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Reference A aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactac AACAAGAGTGCT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAaacaagagtgctAGATCGAGACCCGACGC chr13:45497993-Reference-A;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Reference A aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactac AAGAACCGTCGG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAaagaaccgtcggAGATCGAGACCCGACGC chr13:45497993-Reference-A;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Reference A aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GGACTTCCATGG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAggacttccatggAGATCGAGACCCGACGC chr13:45497993-Reference-A;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Reference A aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GAATCAGTAGGT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaAtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgaatcagtaggtAGATCGAGACCCGACGC chr13:45497993-Reference-A;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative C aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GTAGCGATAGCG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgtagcgatagcgAGATCGAGACCCGACGC chr13:45497993-Alternative-C;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative C aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactac CAGTTACGTCGG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAcagttacgtcggAGATCGAGACCCGACGC chr13:45497993-Alternative-C;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative C aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactac ACGAGTATCCGG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAacgagtatccggAGATCGAGACCCGACGC chr13:45497993-Alternative-C;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative T aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactac ATCCGAGCATGT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAatccgagcatgtAGATCGAGACCCGACGC chr13:45497993-Alternative-T;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative T aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GCGCTAGGTGAT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgcgctaggtgatAGATCGAGACCCGACGC chr13:45497993-Alternative-T;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Variant G aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactac ACGCGTCTGTCA CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAacgcgtctgtcaAGATCGAGACCCGACGC chr13:45497993-Variant-G;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative C aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactac CTTGAGTCCGCT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAActtgagtccgctAGATCGAGACCCGACGC chr13:45497993-Alternative-C;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative T aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactac CAAGCGACACAT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAcaagcgacacatAGATCGAGACCCGACGC chr13:45497993-Alternative-T;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Variant G aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactac CGTAATATCGAC CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAcgtaatatcgacAGATCGAGACCCGACGC chr13:45497993-Variant-G;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Variant G aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GGAGTATCGACG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAggagtatcgacgAGATCGAGACCCGACGC chr13:45497993-Variant-G;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Variant G aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GACGCTCTTCGT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgacgctcttcgtAGATCGAGACCCGACGC chr13:45497993-Variant-G;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative T aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GTCATGGTAACG CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgtcatggtaacgAGATCGAGACCCGACGC chr13:45497993-Alternative-T;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative T aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactac AATCGATCCGAT CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaTtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAaatcgatccgatAGATCGAGACCCGACGC chr13:45497993-Alternative-T;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Variant G aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactac GCATCCGTACAC CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaGtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAgcatccgtacacAGATCGAGACCCGACGC chr13:45497993-Variant-G;Patient-37 chr13:45497993-AG DeNovo Patient-37 intergenic 0.000159 0.000513 -0.11 1.32 -3.44 NUFIP1 65619 Alternative C aaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactac AGTATCTGCTTC CGACGCGGTCTCTCTCTaaactcattttcttctttcctcgtgagatgatctatctcaataatcttcaCtaggtccatggccagggattatgccaagtttaatgttcatcatgactacAGAGGGAGACGGACGTCTCAATAAagtatctgcttcAGATCGAGACCCGACGC chr13:45497993-Alternative-C;Patient-37 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Variant C ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt AGGAGATACTTC CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAaggagatacttcAGATCGAGACCCGACGC chr13:45668710-Variant-C;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Reference G ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CTTGACTGTGCG CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAActtgactgtgcgAGATCGAGACCCGACGC chr13:45668710-Reference-G;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative T ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt AAGTCGGCGCAA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAaagtcggcgcaaAGATCGAGACCCGACGC chr13:45668710-Alternative-T;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Reference G ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt AGTAGCGTAGTT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAagtagcgtagttAGATCGAGACCCGACGC chr13:45668710-Reference-G;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Variant C ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CTAATCTCATGC CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAActaatctcatgcAGATCGAGACCCGACGC chr13:45668710-Variant-C;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative T ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CACGCTTGATAA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAcacgcttgataaAGATCGAGACCCGACGC chr13:45668710-Alternative-T;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Reference G ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt GCGAAGCATGAG CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAgcgaagcatgagAGATCGAGACCCGACGC chr13:45668710-Reference-G;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Reference G ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt ACAAGAGTGCTA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAacaagagtgctaAGATCGAGACCCGACGC chr13:45668710-Reference-G;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Variant C ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CAGCGGTGTTCA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAcagcggtgttcaAGATCGAGACCCGACGC chr13:45668710-Variant-C;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative A ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CGGTAGATCGCT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAcggtagatcgctAGATCGAGACCCGACGC chr13:45668710-Alternative-A;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Variant C ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt GATCGACGATCG CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAgatcgacgatcgAGATCGAGACCCGACGC chr13:45668710-Variant-C;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Variant C ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CTACGTTGTCAT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaCgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAActacgttgtcatAGATCGAGACCCGACGC chr13:45668710-Variant-C;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative A ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt AGGCTTGCACGT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAaggcttgcacgtAGATCGAGACCCGACGC chr13:45668710-Alternative-A;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Reference G ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt ATAGCCATACGT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaGgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAatagccatacgtAGATCGAGACCCGACGC chr13:45668710-Reference-G;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative A ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CGGATGGTACGT CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAcggatggtacgtAGATCGAGACCCGACGC chr13:45668710-Alternative-A;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative T ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt ATAGGTTAACCG CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAataggttaaccgAGATCGAGACCCGACGC chr13:45668710-Alternative-T;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative A ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt GCGAAGTCTAGA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAgcgaagtctagaAGATCGAGACCCGACGC chr13:45668710-Alternative-A;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative A ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt CGACTTCGCAGA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaAgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAcgacttcgcagaAGATCGAGACCCGACGC chr13:45668710-Alternative-A;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative T ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt GCGATAGGCTGA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAgcgataggctgaAGATCGAGACCCGACGC chr13:45668710-Alternative-T;Patient-55 chr13:45668710-GC Inherited Patient-55 intergenic NA 0.000512821 -0.19 0.76 -2.06 GTF2F2 25920 Alternative T ataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagatt GATGACCTACGA CGACGCGGTCTCTCTCTataagtagattgtgataaagcaatttcattgaagcgatctcgcaaatagaTgctctgtgaaccacttgaaaatgcttctgcacattttcagaagcagattAGAGGGAGACGGACGTCTCAATAAgatgacctacgaAGATCGAGACCCGACGC chr13:45668710-Alternative-T;Patient-55 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Variant G ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt CTCGCATCCATT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAActcgcatccattAGATCGAGACCCGACGC chr13:45701726-Variant-G;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Variant G ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt ATAACGACGAAC CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAataacgacgaacAGATCGAGACCCGACGC chr13:45701726-Variant-G;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Variant G ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt ACACGCCTTCGA CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAacacgccttcgaAGATCGAGACCCGACGC chr13:45701726-Variant-G;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Variant G ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt CTATAGGCTCAT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAActataggctcatAGATCGAGACCCGACGC chr13:45701726-Variant-G;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Variant G ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GTGTCTGAAGCG CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaGgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgtgtctgaagcgAGATCGAGACCCGACGC chr13:45701726-Variant-G;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative T ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GACGTAGCTTAT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgacgtagcttatAGATCGAGACCCGACGC chr13:45701726-Alternative-T;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative T ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt AATACGCTGCAT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAaatacgctgcatAGATCGAGACCCGACGC chr13:45701726-Alternative-T;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative T ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt ATCTGTGCATTC CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAatctgtgcattcAGATCGAGACCCGACGC chr13:45701726-Alternative-T;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Reference A ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GTTATGCGGTTA CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgttatgcggttaAGATCGAGACCCGACGC chr13:45701726-Reference-A;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative T ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt ACGCTCTCAATT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAacgctctcaattAGATCGAGACCCGACGC chr13:45701726-Alternative-T;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative C ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GCGGTAGCATTC CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgcggtagcattcAGATCGAGACCCGACGC chr13:45701726-Alternative-C;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative C ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GAATCGGTGTGG CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgaatcggtgtggAGATCGAGACCCGACGC chr13:45701726-Alternative-C;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Reference A ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt ATATTCCGCGTT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAatattccgcgttAGATCGAGACCCGACGC chr13:45701726-Reference-A;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative T ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GTACTATCATGG CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaTgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgtactatcatggAGATCGAGACCCGACGC chr13:45701726-Alternative-T;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Reference A ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt CGGCATAGTTAT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAcggcatagttatAGATCGAGACCCGACGC chr13:45701726-Reference-A;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Reference A ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt AGAACGAGCCGA CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAagaacgagccgaAGATCGAGACCCGACGC chr13:45701726-Reference-A;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative C ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt CATTGGACGGAG CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAcattggacggagAGATCGAGACCCGACGC chr13:45701726-Alternative-C;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative C ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GAGGTTAATCGA CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgaggttaatcgaAGATCGAGACCCGACGC chr13:45701726-Alternative-C;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Alternative C ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt CAAGTCGCGTGA CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaCgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAcaagtcgcgtgaAGATCGAGACCCGACGC chr13:45701726-Alternative-C;Patient-89 chr13:45701726-AG Inherited Patient-89 intronic GTF2F2 NA 4.95e-05 0.06 3.65 0.15 GTF2F2 7094 Reference A ctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgtt GCCAAGAGCCTT CGACGCGGTCTCTCTCTctgatctcaaattcctggactcaagcagtctacccacgttggccttccaaAgtgctagagtgttgggattatggcatgagccaccacccctggccttgttAGAGGGAGACGGACGTCTCAATAAgccaagagccttAGATCGAGACCCGACGC chr13:45701726-Reference-A;Patient-89 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative T gacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttg ACACAGCATAAG CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAacacagcataagAGATCGAGACCCGACGC chr13:48727662-Alternative-T;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative C gacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttg AACGTATGCCAC CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAaacgtatgccacAGATCGAGACCCGACGC chr13:48727662-Alternative-C;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Reference G gacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GATGTTCGCACG CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAgatgttcgcacgAGATCGAGACCCGACGC chr13:48727662-Reference-G;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Variant A gacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttg ACACGCGTTACG CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAacacgcgttacgAGATCGAGACCCGACGC chr13:48727662-Variant-A;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative T gacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CGGCTAACGTGA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAcggctaacgtgaAGATCGAGACCCGACGC chr13:48727662-Alternative-T;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Variant A gacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GACCTTACGATA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAgaccttacgataAGATCGAGACCCGACGC chr13:48727662-Variant-A;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Variant A gacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GGTCGTATTCGG CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAggtcgtattcggAGATCGAGACCCGACGC chr13:48727662-Variant-A;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative C gacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttg AATGCCACAGAA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAaatgccacagaaAGATCGAGACCCGACGC chr13:48727662-Alternative-C;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Variant A gacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CTGCGATTGATA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAActgcgattgataAGATCGAGACCCGACGC chr13:48727662-Variant-A;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Variant A gacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CAACATCGACAC CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcAagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAcaacatcgacacAGATCGAGACCCGACGC chr13:48727662-Variant-A;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative T gacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GCCTGGACTAAC CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAgcctggactaacAGATCGAGACCCGACGC chr13:48727662-Alternative-T;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Reference G gacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GGTTCTGTTCAT CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAggttctgttcatAGATCGAGACCCGACGC chr13:48727662-Reference-G;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative C gacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CGATGTATCACG CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAcgatgtatcacgAGATCGAGACCCGACGC chr13:48727662-Alternative-C;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative T gacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttg ACACGGCTAGGT CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAacacggctaggtAGATCGAGACCCGACGC chr13:48727662-Alternative-T;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative T gacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttg ACCTAGAAGCTT CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcTagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAacctagaagcttAGATCGAGACCCGACGC chr13:48727662-Alternative-T;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative C gacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GTATCACGCGCA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAgtatcacgcgcaAGATCGAGACCCGACGC chr13:48727662-Alternative-C;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Alternative C gacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttg ATCGAGCCGAAT CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcCagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAatcgagccgaatAGATCGAGACCCGACGC chr13:48727662-Alternative-C;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Reference G gacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CGTTCAACGGCA CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAcgttcaacggcaAGATCGAGACCCGACGC chr13:48727662-Reference-G;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Reference G gacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttg GTCGTGGAGAGT CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAgtcgtggagagtAGATCGAGACCCGACGC chr13:48727662-Reference-G;Patient-37 chr13:48727662-GA DeNovo Patient-37 intergenic 0.00035 0.00103 -0.45 0.13 -2.94 MED4 58384 Reference G gacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttg CATCGGCCATAC CGACGCGGTCTCTCTCTgacatatgtttggggacatcctaaggcagggacatggaatataaattctcGagaagttggatgtcagaaaatgtttatttttactctactctgacacttgAGAGGGAGACGGACGTCTCAATAAcatcggccatacAGATCGAGACCCGACGC chr13:48727662-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Reference G atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaag GATATCGATCCT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgatatcgatcctAGATCGAGACCCGACGC chr13:48791449-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative C atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaag GACCTCTATCGT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgacctctatcgtAGATCGAGACCCGACGC chr13:48791449-Alternative-C;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative C atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaag GTACACAGACAC CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgtacacagacacAGATCGAGACCCGACGC chr13:48791449-Alternative-C;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Reference G atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaag GGTTGTTCGACG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAggttgttcgacgAGATCGAGACCCGACGC chr13:48791449-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Reference G atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaag ACGAGAGATCAT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAacgagagatcatAGATCGAGACCCGACGC chr13:48791449-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Variant T atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaag GGTTGCATCGAC CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAggttgcatcgacAGATCGAGACCCGACGC chr13:48791449-Variant-T;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Reference G atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaag CTGGTGATCAGG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAActggtgatcaggAGATCGAGACCCGACGC chr13:48791449-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative A atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaag CGCTACCGTCAT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAcgctaccgtcatAGATCGAGACCCGACGC chr13:48791449-Alternative-A;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Variant T atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaag CTCTTACGCGGT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAActcttacgcggtAGATCGAGACCCGACGC chr13:48791449-Variant-T;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Reference G atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaag CTCTGGCTAAGG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttGtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAActctggctaaggAGATCGAGACCCGACGC chr13:48791449-Reference-G;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Variant T atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaag AGTGTCTGAGTT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAagtgtctgagttAGATCGAGACCCGACGC chr13:48791449-Variant-T;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative C atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaag CTGTCGGTCCTA CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAActgtcggtcctaAGATCGAGACCCGACGC chr13:48791449-Alternative-C;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative A atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaag GTTAGAAGTTCG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgttagaagttcgAGATCGAGACCCGACGC chr13:48791449-Alternative-A;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative C atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaag GATAACGCTCAT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgataacgctcatAGATCGAGACCCGACGC chr13:48791449-Alternative-C;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Variant T atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaag CGTAAGTAGGTT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAcgtaagtaggttAGATCGAGACCCGACGC chr13:48791449-Variant-T;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative A atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaag ATCGTAATCGAC CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAatcgtaatcgacAGATCGAGACCCGACGC chr13:48791449-Alternative-A;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Variant T atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaag CGCTATCTCGTT CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttTtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAcgctatctcgttAGATCGAGACCCGACGC chr13:48791449-Variant-T;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative A atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaag ACAAGTTACCAC CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAacaagttaccacAGATCGAGACCCGACGC chr13:48791449-Alternative-A;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative A atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaag GATACGCAGACG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttAtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAgatacgcagacgAGATCGAGACCCGACGC chr13:48791449-Alternative-A;Patient-37 chr13:48791449-GT DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.16 0.24 ITM2B 15824 Alternative C atttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaag ATACGTGCTAGG CGACGCGGTCTCTCTCTatttctcccatttggagtgggtgtatttgcccaatgcctgtacccccgttCtatctagaaaataaataacttgcttttgattttccaggctgataggaagAGAGGGAGACGGACGTCTCAATAAatacgtgctaggAGATCGAGACCCGACGC chr13:48791449-Alternative-C;Patient-37 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Reference G acccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacac CGGAAGCTGGAA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAcggaagctggaaAGATCGAGACCCGACGC chr13:48798733-Reference-G;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Reference G acccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacac CGTGACATACTA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAcgtgacatactaAGATCGAGACCCGACGC chr13:48798733-Reference-G;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Reference G acccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacac GACGATTGTGAA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgacgattgtgaaAGATCGAGACCCGACGC chr13:48798733-Reference-G;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative T acccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacac ACGAGTTATTGC CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAacgagttattgcAGATCGAGACCCGACGC chr13:48798733-Alternative-T;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Reference G acccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacac ACGGCAGTAACT CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAacggcagtaactAGATCGAGACCCGACGC chr13:48798733-Reference-G;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Reference G acccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacac CATGTCAAGCCA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaGttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAcatgtcaagccaAGATCGAGACCCGACGC chr13:48798733-Reference-G;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative T acccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacac ACCGGCCATATC CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAaccggccatatcAGATCGAGACCCGACGC chr13:48798733-Alternative-T;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative A acccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacac ATAGGAGCTCTA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAataggagctctaAGATCGAGACCCGACGC chr13:48798733-Alternative-A;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative T acccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacac GCAGCTTAAGTT CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgcagcttaagttAGATCGAGACCCGACGC chr13:48798733-Alternative-T;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative T acccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacac CGCCGGTCTATA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAcgccggtctataAGATCGAGACCCGACGC chr13:48798733-Alternative-T;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative A acccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacac CAGTATGACCAC CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAcagtatgaccacAGATCGAGACCCGACGC chr13:48798733-Alternative-A;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative T acccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacac AATGCAAGATGG CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaTttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAaatgcaagatggAGATCGAGACCCGACGC chr13:48798733-Alternative-T;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative A acccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacac ACTTCCTGGATT CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAacttcctggattAGATCGAGACCCGACGC chr13:48798733-Alternative-A;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative A acccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacac GGTGGATTACTT CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAggtggattacttAGATCGAGACCCGACGC chr13:48798733-Alternative-A;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Variant C acccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacac GCCGTCACGTTA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgccgtcacgttaAGATCGAGACCCGACGC chr13:48798733-Variant-C;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Variant C acccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacac GACGTTGGCATC CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgacgttggcatcAGATCGAGACCCGACGC chr13:48798733-Variant-C;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Alternative A acccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacac ATCTTAACGCGA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaAttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAatcttaacgcgaAGATCGAGACCCGACGC chr13:48798733-Alternative-A;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Variant C acccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacac GACTGTCGTGGT CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgactgtcgtggtAGATCGAGACCCGACGC chr13:48798733-Variant-C;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Variant C acccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacac GTGATCTTCGCA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAgtgatcttcgcaAGATCGAGACCCGACGC chr13:48798733-Variant-C;Patient-71 chr13:48798733-GC DeNovo Patient-71 intergenic 0.000127 0.00103 -0.15 1 -0.67 ITM2B 8540 Variant C acccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacac ACGGTGCGTAGA CGACGCGGTCTCTCTCTacccagcacagttcatttcatatactttcatcccacctggagctcctttaCttataacctcccaatttgctttacagctatcacttcactaaggggacacAGAGGGAGACGGACGTCTCAATAAacggtgcgtagaAGATCGAGACCCGACGC chr13:48798733-Variant-C;Patient-71 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative A tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg CTGGTTCGTACA CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAActggttcgtacaAGATCGAGACCCGACGC chr13:48845224-Alternative-A;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative A tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ATCGAAGTCCGG CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAatcgaagtccggAGATCGAGACCCGACGC chr13:48845224-Alternative-A;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative A tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg GTTCACGGTGGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAgttcacggtggtAGATCGAGACCCGACGC chr13:48845224-Alternative-A;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative A tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg AACGATGAGTGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAaacgatgagtgtAGATCGAGACCCGACGC chr13:48845224-Alternative-A;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative A tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ACTCGCGTAGCT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcAgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAactcgcgtagctAGATCGAGACCCGACGC chr13:48845224-Alternative-A;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative G tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ACTACGCGGTCT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAactacgcggtctAGATCGAGACCCGACGC chr13:48845224-Alternative-G;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative G tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg GGCTTGACGTAC CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAggcttgacgtacAGATCGAGACCCGACGC chr13:48845224-Alternative-G;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Reference T tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg AGCGTAACGGAC CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAagcgtaacggacAGATCGAGACCCGACGC chr13:48845224-Reference-T;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative G tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg CATTCAGCCGGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAcattcagccggtAGATCGAGACCCGACGC chr13:48845224-Alternative-G;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Reference T tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg CACGCATAAGCG CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAcacgcataagcgAGATCGAGACCCGACGC chr13:48845224-Reference-T;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Reference T tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg AGCGTTGATTGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAagcgttgattgtAGATCGAGACCCGACGC chr13:48845224-Reference-T;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative G tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg GTTGTAGTTGGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAgttgtagttggtAGATCGAGACCCGACGC chr13:48845224-Alternative-G;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Reference T tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg AGCAACTCTCGG CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAagcaactctcggAGATCGAGACCCGACGC chr13:48845224-Reference-T;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Reference T tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg CTGAGTGAACGG CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcTgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAActgagtgaacggAGATCGAGACCCGACGC chr13:48845224-Reference-T;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Variant C tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg CGCTCCAATGGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAcgctccaatggtAGATCGAGACCCGACGC chr13:48845224-Variant-C;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Variant C tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ACGATCCTCTTA CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAacgatcctcttaAGATCGAGACCCGACGC chr13:48845224-Variant-C;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Alternative G tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ATCGTCGCCTTA CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcGgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAatcgtcgccttaAGATCGAGACCCGACGC chr13:48845224-Alternative-G;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Variant C tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg GTAGGTAGTCGC CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAgtaggtagtcgcAGATCGAGACCCGACGC chr13:48845224-Variant-C;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Variant C tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg AGATAACGGTGT CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAagataacggtgtAGATCGAGACCCGACGC chr13:48845224-Variant-C;Patient-1 chr13:48845224-TC DeNovo Patient-1 intergenic NA 0.000513 -0.58 0.05 -0.45 RB1 32658 Variant C tgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctgg ACATAGTAGCGG CGACGCGGTCTCTCTCTtgtcgcccaggctggagtgcactggcgtgatcttggctcactgcaacctcCgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctggAGAGGGAGACGGACGTCTCAATAAacatagtagcggAGATCGAGACCCGACGC chr13:48845224-Variant-C;Patient-1 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Variant C aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GGCTGTGCAGTT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAggctgtgcagttAGATCGAGACCCGACGC chr13:49815566-Variant-C;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Reference A aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CGTTCAATGAGT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAcgttcaatgagtAGATCGAGACCCGACGC chr13:49815566-Reference-A;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Reference A aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GACCGTAATCAT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgaccgtaatcatAGATCGAGACCCGACGC chr13:49815566-Reference-A;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Variant C aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GTCGCATACTAA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgtcgcatactaaAGATCGAGACCCGACGC chr13:49815566-Variant-C;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative T aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc ACGAAGCTTGCG CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAacgaagcttgcgAGATCGAGACCCGACGC chr13:49815566-Alternative-T;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative G aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CGAGCATCAGTT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAcgagcatcagttAGATCGAGACCCGACGC chr13:49815566-Alternative-G;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Variant C aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CTGCGTGTCGAA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAActgcgtgtcgaaAGATCGAGACCCGACGC chr13:49815566-Variant-C;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Variant C aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GCGTACATTGAT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgcgtacattgatAGATCGAGACCCGACGC chr13:49815566-Variant-C;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative G aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CTTGAGTCGTGG CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAActtgagtcgtggAGATCGAGACCCGACGC chr13:49815566-Alternative-G;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Reference A aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc ATAGTACTCCGA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAatagtactccgaAGATCGAGACCCGACGC chr13:49815566-Reference-A;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative G aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc AAGACTGTGCTT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAaagactgtgcttAGATCGAGACCCGACGC chr13:49815566-Alternative-G;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Reference A aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GCGAATAATCGA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgcgaataatcgaAGATCGAGACCCGACGC chr13:49815566-Reference-A;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Reference A aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GTTGGTGACTTA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaAgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgttggtgacttaAGATCGAGACCCGACGC chr13:49815566-Reference-A;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative T aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GTACCTCCGATA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgtacctccgataAGATCGAGACCCGACGC chr13:49815566-Alternative-T;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Variant C aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CTAGTACACGGC CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaCgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAActagtacacggcAGATCGAGACCCGACGC chr13:49815566-Variant-C;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative T aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc ACCGACGTTACA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAaccgacgttacaAGATCGAGACCCGACGC chr13:49815566-Alternative-T;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative T aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GGATCTCAAGTC CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAggatctcaagtcAGATCGAGACCCGACGC chr13:49815566-Alternative-T;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative G aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc CAACCGCTGCAT CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAcaaccgctgcatAGATCGAGACCCGACGC chr13:49815566-Alternative-G;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative G aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc GCGTACTAGACG CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaGgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAgcgtactagacgAGATCGAGACCCGACGC chr13:49815566-Alternative-G;Patient-65 chr13:49815566-AC Inherited Patient-65 intergenic NA 0.000513 0.9 12.57 3.91 MLNR 21091 Alternative T aagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctc ACTGAGTACGAA CGACGCGGTCTCTCTCTaagggcatctggattttgtttcaggtttctttttgcttcctcagggtttaTgtgctgccaggaatggccttctaagaattgcttagcaaaccttaatctcAGAGGGAGACGGACGTCTCAATAAactgagtacgaaAGATCGAGACCCGACGC chr13:49815566-Alternative-T;Patient-65 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative C gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac GGATGTTAGCTA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAggatgttagctaAGATCGAGACCCGACGC chr13:50296841-Alternative-C;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative C gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac AGGCCGCACTAA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAaggccgcactaaAGATCGAGACCCGACGC chr13:50296841-Alternative-C;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative C gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CTTAATGTGTGG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAActtaatgtgtggAGATCGAGACCCGACGC chr13:50296841-Alternative-C;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative C gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CGAGCACAATCG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcgagcacaatcgAGATCGAGACCCGACGC chr13:50296841-Alternative-C;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Reference G gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CACGAGATCGAT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcacgagatcgatAGATCGAGACCCGACGC chr13:50296841-Reference-G;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Reference G gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac ACGTCGCGGTTA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAacgtcgcggttaAGATCGAGACCCGACGC chr13:50296841-Reference-G;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Reference G gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac AACCGGCATGAG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAaaccggcatgagAGATCGAGACCCGACGC chr13:50296841-Reference-G;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Reference G gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CATATATGGTCG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcatatatggtcgAGATCGAGACCCGACGC chr13:50296841-Reference-G;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative T gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac GTTCGTACGTCC CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAgttcgtacgtccAGATCGAGACCCGACGC chr13:50296841-Alternative-T;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Reference G gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CACGTCGTTCCA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaGaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcacgtcgttccaAGATCGAGACCCGACGC chr13:50296841-Reference-G;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative T gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CTGTGTCACGGT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAActgtgtcacggtAGATCGAGACCCGACGC chr13:50296841-Alternative-T;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Variant A gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac ATATGCGGACCG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAatatgcggaccgAGATCGAGACCCGACGC chr13:50296841-Variant-A;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Variant A gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac ACCAATGTTCGA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAaccaatgttcgaAGATCGAGACCCGACGC chr13:50296841-Variant-A;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Variant A gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac GAGCACGTAACG CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAgagcacgtaacgAGATCGAGACCCGACGC chr13:50296841-Variant-A;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative C gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CTGCTTCTCATT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaCaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAActgcttctcattAGATCGAGACCCGACGC chr13:50296841-Alternative-C;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative T gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac GCCGAAGAATTA CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAgccgaagaattaAGATCGAGACCCGACGC chr13:50296841-Alternative-T;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative T gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac GATCAGTCGATT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAgatcagtcgattAGATCGAGACCCGACGC chr13:50296841-Alternative-T;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Variant A gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CAATGCGAATGT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcaatgcgaatgtAGATCGAGACCCGACGC chr13:50296841-Variant-A;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Alternative T gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac ACGCTCTTACAC CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaTaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAacgctcttacacAGATCGAGACCCGACGC chr13:50296841-Alternative-T;Patient-91 chr13:50296841-GA Inherited Patient-91 intronic KPNA3 3.2e-05 0.000148 -0.18 0.84 -2.08 KPNA3 70215 Variant A gcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaac CGTTATCGAACT CGACGCGGTCTCTCTCTgcatattgtagctggaagaacaaatgtggcaaatatctttaccctaaaaaAaatcaatttcagtattttcccctagtaatagtcaagtaccgtaaccaacAGAGGGAGACGGACGTCTCAATAAcgttatcgaactAGATCGAGACCCGACGC chr13:50296841-Variant-A;Patient-91 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Reference G gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca ATTGATTGGACG CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAattgattggacgAGATCGAGACCCGACGC chr13:51551507-Reference-G;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Reference G gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GCAAGATGACGA CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgcaagatgacgaAGATCGAGACCCGACGC chr13:51551507-Reference-G;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Reference G gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca AGCAGGATCGAC CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAagcaggatcgacAGATCGAGACCCGACGC chr13:51551507-Reference-G;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Reference G gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca ATAGACCGAACT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAatagaccgaactAGATCGAGACCCGACGC chr13:51551507-Reference-G;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Reference G gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GTACGAGTACGG CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaGgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgtacgagtacggAGATCGAGACCCGACGC chr13:51551507-Reference-G;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative A gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GTATTGCAGTGT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgtattgcagtgtAGATCGAGACCCGACGC chr13:51551507-Alternative-A;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Variant T gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CGCTTATGGTGG CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAcgcttatggtggAGATCGAGACCCGACGC chr13:51551507-Variant-T;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative A gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CTCTGGCCGATT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAActctggccgattAGATCGAGACCCGACGC chr13:51551507-Alternative-A;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative C gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GTACTCCGATAA CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgtactccgataaAGATCGAGACCCGACGC chr13:51551507-Alternative-C;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Variant T gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca AACGGTGTTGAT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAaacggtgttgatAGATCGAGACCCGACGC chr13:51551507-Variant-T;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative C gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GGACACCACGTT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAggacaccacgttAGATCGAGACCCGACGC chr13:51551507-Alternative-C;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative A gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CACTTAGTGTTC CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAcacttagtgttcAGATCGAGACCCGACGC chr13:51551507-Alternative-A;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative C gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CACGCTTCGTCA CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAcacgcttcgtcaAGATCGAGACCCGACGC chr13:51551507-Alternative-C;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Variant T gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CGGATAAGTAGT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAcggataagtagtAGATCGAGACCCGACGC chr13:51551507-Variant-T;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative A gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca ACTACGATCGGT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAactacgatcggtAGATCGAGACCCGACGC chr13:51551507-Alternative-A;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative C gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GTCGCAAGTCGT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgtcgcaagtcgtAGATCGAGACCCGACGC chr13:51551507-Alternative-C;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Variant T gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca CTTAGCGACGGT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAActtagcgacggtAGATCGAGACCCGACGC chr13:51551507-Variant-T;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative A gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca AGACCGGTAGTC CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaAgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAagaccggtagtcAGATCGAGACCCGACGC chr13:51551507-Alternative-A;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Variant T gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca ACACATCGCTAT CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaTgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAacacatcgctatAGATCGAGACCCGACGC chr13:51551507-Variant-T;Patient-71 chr13:51551507-GT DeNovo Patient-71 intergenic 0.000446 0.00103 -0.04 2.07 0.54 RNASEH2B 67692 Alternative C gaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttca GTGTCGTTGATA CGACGCGGTCTCTCTCTgaaggtggaactgagctggaatgaatgggattcaggcaggtgcagcccaaCgcaaggcccaagggaaagaaaggaattgacaacaccttccctgtcttcaAGAGGGAGACGGACGTCTCAATAAgtgtcgttgataAGATCGAGACCCGACGC chr13:51551507-Alternative-C;Patient-71 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative C cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GTCGCGGTATGT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAgtcgcggtatgtAGATCGAGACCCGACGC chr13:51971610-Alternative-C;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative C cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GATGCGCTCGTT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAgatgcgctcgttAGATCGAGACCCGACGC chr13:51971610-Alternative-C;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative C cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GTACTCCGTAAC CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAgtactccgtaacAGATCGAGACCCGACGC chr13:51971610-Alternative-C;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative C cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CTCGCGGTGAAT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAActcgcggtgaatAGATCGAGACCCGACGC chr13:51971610-Alternative-C;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Reference G cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CTGGTATGGATA CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAActggtatggataAGATCGAGACCCGACGC chr13:51971610-Reference-G;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Reference G cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GCATCGAACCGA CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAgcatcgaaccgaAGATCGAGACCCGACGC chr13:51971610-Reference-G;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Reference G cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa AGTCTAGTAACC CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAagtctagtaaccAGATCGAGACCCGACGC chr13:51971610-Reference-G;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative C cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa ACGTAGGTCTTA CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggCccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAacgtaggtcttaAGATCGAGACCCGACGC chr13:51971610-Alternative-C;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative T cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa ACCGAACTACGG CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAaccgaactacggAGATCGAGACCCGACGC chr13:51971610-Alternative-T;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Reference G cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa AGCATGCTTGAT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAagcatgcttgatAGATCGAGACCCGACGC chr13:51971610-Reference-G;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative T cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CGCCAGTTCTGT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAcgccagttctgtAGATCGAGACCCGACGC chr13:51971610-Alternative-T;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Variant A cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CAGTTGCGTCCT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAcagttgcgtcctAGATCGAGACCCGACGC chr13:51971610-Variant-A;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Variant A cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CGCATACTACTT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAcgcatactacttAGATCGAGACCCGACGC chr13:51971610-Variant-A;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Variant A cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa AGTACCAAGACA CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAagtaccaagacaAGATCGAGACCCGACGC chr13:51971610-Variant-A;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Reference G cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GACTGGATGTGA CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggGccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAgactggatgtgaAGATCGAGACCCGACGC chr13:51971610-Reference-G;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative T cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CTGAGTCCGCTT CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAActgagtccgcttAGATCGAGACCCGACGC chr13:51971610-Alternative-T;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Variant A cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa CTAGTCGCTGAG CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAActagtcgctgagAGATCGAGACCCGACGC chr13:51971610-Variant-A;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Variant A cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa AACCACAGCATC CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggAccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAaaccacagcatcAGATCGAGACCCGACGC chr13:51971610-Variant-A;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative T cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa GGATCACAACGG CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAggatcacaacggAGATCGAGACCCGACGC chr13:51971610-Alternative-T;Patient-65 chr13:51971610-GA Inherited Patient-65 intronic INTS6 0.000541 4.95e-05 1.71 16.87 2.83 INTS6 55664 Alternative T cgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaa ACGAGTAATACG CGACGCGGTCTCTCTCTcgtaaggcagaaggcagaagcaacagagaaggaatgctgaagaaatctggTccagcatattctcgaggaaggtttcccagcctcacaggctctgtgacaaAGAGGGAGACGGACGTCTCAATAAacgagtaatacgAGATCGAGACCCGACGC chr13:51971610-Alternative-T;Patient-65 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Variant A tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg CGAATTATGCCA CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAcgaattatgccaAGATCGAGACCCGACGC chr13:53508575-Variant-A;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Variant A tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg CGGCATAATCGG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAcggcataatcggAGATCGAGACCCGACGC chr13:53508575-Variant-A;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative T tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg ACAACTAAGGAC CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAacaactaaggacAGATCGAGACCCGACGC chr13:53508575-Alternative-T;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative C tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg ACTCTCTGACAT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAactctctgacatAGATCGAGACCCGACGC chr13:53508575-Alternative-C;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Variant A tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GATCGTTGTGCG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgatcgttgtgcgAGATCGAGACCCGACGC chr13:53508575-Variant-A;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative C tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GGCTAAGAGTGT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAggctaagagtgtAGATCGAGACCCGACGC chr13:53508575-Alternative-C;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative T tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GGATGTACGCGT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAggatgtacgcgtAGATCGAGACCCGACGC chr13:53508575-Alternative-T;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative T tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg CTGCGTCCTCTT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAActgcgtcctcttAGATCGAGACCCGACGC chr13:53508575-Alternative-T;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative T tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GATTCGTCGTAA CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgattcgtcgtaaAGATCGAGACCCGACGC chr13:53508575-Alternative-T;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative C tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg CGGAGTAGAATT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAcggagtagaattAGATCGAGACCCGACGC chr13:53508575-Alternative-C;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Variant A tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GCATTGGACTTA CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgcattggacttaAGATCGAGACCCGACGC chr13:53508575-Variant-A;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative T tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GACGAGGACGAA CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactTagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgacgaggacgaaAGATCGAGACCCGACGC chr13:53508575-Alternative-T;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Reference G tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg ATTGACTTCACG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAattgacttcacgAGATCGAGACCCGACGC chr13:53508575-Reference-G;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Variant A tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg CTATGGCGCTAT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactAagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAActatggcgctatAGATCGAGACCCGACGC chr13:53508575-Variant-A;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative C tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg ATACCGCAACTA CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAataccgcaactaAGATCGAGACCCGACGC chr13:53508575-Alternative-C;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Alternative C tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GGCAGTAGTGGT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactCagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAggcagtagtggtAGATCGAGACCCGACGC chr13:53508575-Alternative-C;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Reference G tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GTTGTGTAGAAG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgttgtgtagaagAGATCGAGACCCGACGC chr13:53508575-Reference-G;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Reference G tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GATCGGCATGAG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgatcggcatgagAGATCGAGACCCGACGC chr13:53508575-Reference-G;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Reference G tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg AATGTGCAGGAT CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAaatgtgcaggatAGATCGAGACCCGACGC chr13:53508575-Reference-G;Patient-33 chr13:53508575-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA OLFM4 94300 Reference G tgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcaggg GTCCGAATTAAG CGACGCGGTCTCTCTCTtgatactcagagcagcagcctggggcaggctccgagcctgggcctccactGagtggaatatcagcctccaaaagctggttgggcacgtgatgagtcagggAGAGGGAGACGGACGTCTCAATAAgtccgaattaagAGATCGAGACCCGACGC chr13:53508575-Reference-G;Patient-33 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative T atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GGCTTCTATAAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAggcttctataacAGATCGAGACCCGACGC chr13:60718368-Alternative-T;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative T atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt ATCCGACATCTA CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAatccgacatctaAGATCGAGACCCGACGC chr13:60718368-Alternative-T;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Reference C atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CTAAGATTCGCT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAActaagattcgctAGATCGAGACCCGACGC chr13:60718368-Reference-C;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative G atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GATTCGCTTAAG CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgattcgcttaagAGATCGAGACCCGACGC chr13:60718368-Alternative-G;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative T atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt ATCAATCACCAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAatcaatcaccacAGATCGAGACCCGACGC chr13:60718368-Alternative-T;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Reference C atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt AGCAGGTACTAA CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAagcaggtactaaAGATCGAGACCCGACGC chr13:60718368-Reference-C;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Variant A atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CGGATATGCGAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAcggatatgcgacAGATCGAGACCCGACGC chr13:60718368-Variant-A;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative G atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GTTAATGCGAAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgttaatgcgaacAGATCGAGACCCGACGC chr13:60718368-Alternative-G;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative T atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GATAGCCGATTA CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgatagccgattaAGATCGAGACCCGACGC chr13:60718368-Alternative-T;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Reference C atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CAAGGTTATGCT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAcaaggttatgctAGATCGAGACCCGACGC chr13:60718368-Reference-C;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative G atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CGAGTTGCGTTC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAcgagttgcgttcAGATCGAGACCCGACGC chr13:60718368-Alternative-G;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative T atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt ATCGGTATATCG CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatTccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAatcggtatatcgAGATCGAGACCCGACGC chr13:60718368-Alternative-T;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative G atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CGTGACTATCCT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAcgtgactatcctAGATCGAGACCCGACGC chr13:60718368-Alternative-G;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Reference C atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GGCAAGTCATAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAggcaagtcatacAGATCGAGACCCGACGC chr13:60718368-Reference-C;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Alternative G atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GTAGATATCGGT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatGccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgtagatatcggtAGATCGAGACCCGACGC chr13:60718368-Alternative-G;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Reference C atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GTCGTTAGCGAC CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatCccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgtcgttagcgacAGATCGAGACCCGACGC chr13:60718368-Reference-C;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Variant A atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GACGGCGAATGT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgacggcgaatgtAGATCGAGACCCGACGC chr13:60718368-Variant-A;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Variant A atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt CGTGTCACAGCA CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAcgtgtcacagcaAGATCGAGACCCGACGC chr13:60718368-Variant-A;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Variant A atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GGATAGGTAACT CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAggataggtaactAGATCGAGACCCGACGC chr13:60718368-Variant-A;Patient-59 chr13:60718368-CA Inherited Patient-59 intronic DIAPH3 NA 0.000198 0.03 3.14 -0.75 DIAPH3 19750 Variant A atcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataatt GTACGAACGCGA CGACGCGGTCTCTCTCTatcacctgaaagcttgttttcttttcccaatacggatgcctatgtaatatAccagcccaaatgaatcaatacccaaagatggagcctgccatggataattAGAGGGAGACGGACGTCTCAATAAgtacgaacgcgaAGATCGAGACCCGACGC chr13:60718368-Variant-A;Patient-59 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Variant G acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaaca CGCCAGTGGTTA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcgccagtggttaAGATCGAGACCCGACGC chr13:60922668-Variant-G;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative A acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaaca CTATACGCGCAG CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAActatacgcgcagAGATCGAGACCCGACGC chr13:60922668-Alternative-A;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Reference T acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaaca CTATGCTAAGGT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAActatgctaaggtAGATCGAGACCCGACGC chr13:60922668-Reference-T;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Variant G acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaaca AGCGTAGCTCGT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAagcgtagctcgtAGATCGAGACCCGACGC chr13:60922668-Variant-G;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Variant G acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaaca GTACCGCTCATA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAgtaccgctcataAGATCGAGACCCGACGC chr13:60922668-Variant-G;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Variant G acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaaca GTACTCGATCAA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAgtactcgatcaaAGATCGAGACCCGACGC chr13:60922668-Variant-G;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Variant G acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaaca CTCGTGTAACGG CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaGcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAActcgtgtaacggAGATCGAGACCCGACGC chr13:60922668-Variant-G;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Reference T acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaaca GCGACTAGAACG CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAgcgactagaacgAGATCGAGACCCGACGC chr13:60922668-Reference-T;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Reference T acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaaca AGGTGGCGTGAA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAaggtggcgtgaaAGATCGAGACCCGACGC chr13:60922668-Reference-T;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Reference T acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaaca CGTATCGTAAGT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcgtatcgtaagtAGATCGAGACCCGACGC chr13:60922668-Reference-T;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Reference T acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaaca ACGCTCGAGTCT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaTcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAacgctcgagtctAGATCGAGACCCGACGC chr13:60922668-Reference-T;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative A acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaaca GCGGTGATTCCA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAgcggtgattccaAGATCGAGACCCGACGC chr13:60922668-Alternative-A;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative A acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaaca CACGGTGGCTAA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcacggtggctaaAGATCGAGACCCGACGC chr13:60922668-Alternative-A;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative A acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaaca CGTGACGTGACT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcgtgacgtgactAGATCGAGACCCGACGC chr13:60922668-Alternative-A;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative A acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaaca GTTCACAACCGC CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaAcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAgttcacaaccgcAGATCGAGACCCGACGC chr13:60922668-Alternative-A;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative C acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaaca CAATAGCCGAAT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcaatagccgaatAGATCGAGACCCGACGC chr13:60922668-Alternative-C;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative C acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaaca CGATAACATGCT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcgataacatgctAGATCGAGACCCGACGC chr13:60922668-Alternative-C;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative C acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaaca AGCGGACATAAG CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAagcggacataagAGATCGAGACCCGACGC chr13:60922668-Alternative-C;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative C acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaaca CGGCAATCTGCA CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAcggcaatctgcaAGATCGAGACCCGACGC chr13:60922668-Alternative-C;Patient-62 chr13:60922668-TG DeNovo Patient-62 intergenic NA 0.000513 0.06 3.51 -0.95 TDRD3 47922 Alternative C acataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaaca GGCCACCGAATT CGACGCGGTCTCTCTCTacataatgaagaaaagggaaagcattcccttcccagagagctataggaaaCcacagggagggctctagatggacaccagctgggacgggcatttctaacaAGAGGGAGACGGACGTCTCAATAAggccaccgaattAGATCGAGACCCGACGC chr13:60922668-Alternative-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Variant T atttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat ATTACCACAACC CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAattaccacaaccAGATCGAGACCCGACGC chr13:60958388-Variant-T;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative A atttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GCCGTGGTCATA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgccgtggtcataAGATCGAGACCCGACGC chr13:60958388-Alternative-A;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Variant T atttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GGTTGGAATAAG CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAggttggaataagAGATCGAGACCCGACGC chr13:60958388-Variant-T;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative A atttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GGTATCGTTCGG CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAggtatcgttcggAGATCGAGACCCGACGC chr13:60958388-Alternative-A;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative A atttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat CTGTCAACACGT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAActgtcaacacgtAGATCGAGACCCGACGC chr13:60958388-Alternative-A;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Reference C atttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat ACGGCCATGGAA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAacggccatggaaAGATCGAGACCCGACGC chr13:60958388-Reference-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Variant T atttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GATGGCATAAGT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgatggcataagtAGATCGAGACCCGACGC chr13:60958388-Variant-T;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Reference C atttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat AACACGCTCCGA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAaacacgctccgaAGATCGAGACCCGACGC chr13:60958388-Reference-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Reference C atttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GCACCTCATTCA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgcacctcattcaAGATCGAGACCCGACGC chr13:60958388-Reference-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Reference C atttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GCATGCGGTGAT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgcatgcggtgatAGATCGAGACCCGACGC chr13:60958388-Reference-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Reference C atttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat CTCATCAATTGC CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacCgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAActcatcaattgcAGATCGAGACCCGACGC chr13:60958388-Reference-C;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative A atttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GCGAACGGCTAA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgcgaacggctaaAGATCGAGACCCGACGC chr13:60958388-Alternative-A;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative A atttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GAATTGTGTACG CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacAgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgaattgtgtacgAGATCGAGACCCGACGC chr13:60958388-Alternative-A;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Variant T atttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat AATCTGCGTGAT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAaatctgcgtgatAGATCGAGACCCGACGC chr13:60958388-Variant-T;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative G atttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat ACGGCATTACCA CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAacggcattaccaAGATCGAGACCCGACGC chr13:60958388-Alternative-G;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Variant T atttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat ATTCATAAGCGG CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacTgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAattcataagcggAGATCGAGACCCGACGC chr13:60958388-Variant-T;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative G atttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat CTTGATCCGCGT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAActtgatccgcgtAGATCGAGACCCGACGC chr13:60958388-Alternative-G;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative G atttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat AGCCTGAAGACG CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAagcctgaagacgAGATCGAGACCCGACGC chr13:60958388-Alternative-G;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative G atttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat GCACCTCATTAT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAgcacctcattatAGATCGAGACCCGACGC chr13:60958388-Alternative-G;Patient-62 chr13:60958388-CT DeNovo Patient-62 intergenic 9.6e-05 0.000513 1.73 17 4.12 TDRD3 12202 Alternative G atttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgat CATCCATTGTGT CGACGCGGTCTCTCTCTatttacgactttaatattcaccagtgtttctagctgaagatccaatatacGgctgaatattatctgtcaacaaaatgctgcatctgttccatttgttgatAGAGGGAGACGGACGTCTCAATAAcatccattgtgtAGATCGAGACCCGACGC chr13:60958388-Alternative-G;Patient-62 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Variant G aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CTCTAATCGAGA CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAActctaatcgagaAGATCGAGACCCGACGC chr13:74629872-Variant-G;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Variant G aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GCCAATGCTACG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgccaatgctacgAGATCGAGACCCGACGC chr13:74629872-Variant-G;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Variant G aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ACTCGCGCAGTT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAactcgcgcagttAGATCGAGACCCGACGC chr13:74629872-Variant-G;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative T aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ATCCGGCGTGAT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAatccggcgtgatAGATCGAGACCCGACGC chr13:74629872-Alternative-T;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative T aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CGGTAGAGTATT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAcggtagagtattAGATCGAGACCCGACGC chr13:74629872-Alternative-T;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative C aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CATTCAGATACG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAcattcagatacgAGATCGAGACCCGACGC chr13:74629872-Alternative-C;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Reference A aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ACGGCATGCTTC CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAacggcatgcttcAGATCGAGACCCGACGC chr13:74629872-Reference-A;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Reference A aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CGTAGTTGGTCG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAcgtagttggtcgAGATCGAGACCCGACGC chr13:74629872-Reference-A;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative T aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GTGATGAACTGA CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgtgatgaactgaAGATCGAGACCCGACGC chr13:74629872-Alternative-T;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative T aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CTATCGCCAGCT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAActatcgccagctAGATCGAGACCCGACGC chr13:74629872-Alternative-T;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Variant G aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GACGCACCTATT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgacgcacctattAGATCGAGACCCGACGC chr13:74629872-Variant-G;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative C aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GTTGAGGTCGTC CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgttgaggtcgtcAGATCGAGACCCGACGC chr13:74629872-Alternative-C;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Reference A aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GATAGCTTAGTC CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgatagcttagtcAGATCGAGACCCGACGC chr13:74629872-Reference-A;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative T aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CTGCTACACGCT CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggTaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAActgctacacgctAGATCGAGACCCGACGC chr13:74629872-Alternative-T;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative C aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ATTGAGAGATGG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAattgagagatggAGATCGAGACCCGACGC chr13:74629872-Alternative-C;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative C aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ATAAGTTCCGAC CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAataagttccgacAGATCGAGACCCGACGC chr13:74629872-Alternative-C;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Alternative C aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag ATACCGTCTAAG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggCaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAataccgtctaagAGATCGAGACCCGACGC chr13:74629872-Alternative-C;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Variant G aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GGATCAACGGCA CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggGaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAggatcaacggcaAGATCGAGACCCGACGC chr13:74629872-Variant-G;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Reference A aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag GTACCTATACAG CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAAgtacctatacagAGATCGAGACCCGACGC chr13:74629872-Reference-A;Patient-20 chr13:74629872-AG DeNovo Patient-20 intronic KLF12 NA 0.00016 -0.33 0.29 -2.23 KLF12 78193 Reference A aaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcag CTACCAATTGCA CGACGCGGTCTCTCTCTaaattttccctgtaacactggaaggtaggataagcaacggtggcagagggAaaaaaacaaccaacaacaatttaccctaaacactgagttgttctagcagAGAGGGAGACGGACGTCTCAATAActaccaattgcaAGATCGAGACCCGACGC chr13:74629872-Reference-A;Patient-20 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative A gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta GTAGCCGTCTGT CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAgtagccgtctgtAGATCGAGACCCGACGC chr13:77569887-Alternative-A;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Variant C gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CGTATCGATCAA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAcgtatcgatcaaAGATCGAGACCCGACGC chr13:77569887-Variant-C;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative A gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta GGCGTAAGCATC CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAggcgtaagcatcAGATCGAGACCCGACGC chr13:77569887-Alternative-A;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Variant C gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CTCTTACGTGCG CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAActcttacgtgcgAGATCGAGACCCGACGC chr13:77569887-Variant-C;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Reference G gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta AACTAGCTGGAA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAaactagctggaaAGATCGAGACCCGACGC chr13:77569887-Reference-G;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative T gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta GTCTCTGTGTCG CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAgtctctgtgtcgAGATCGAGACCCGACGC chr13:77569887-Alternative-T;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative A gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta AACGGCACCAAC CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAaacggcaccaacAGATCGAGACCCGACGC chr13:77569887-Alternative-A;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative A gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta GGACGACGTCAA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAggacgacgtcaaAGATCGAGACCCGACGC chr13:77569887-Alternative-A;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative T gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ATACGGCAGTAA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAatacggcagtaaAGATCGAGACCCGACGC chr13:77569887-Alternative-T;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Reference G gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta AGCAGCGCTGAT CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAagcagcgctgatAGATCGAGACCCGACGC chr13:77569887-Reference-G;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Variant C gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ACTTGGTTCTAC CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAacttggttctacAGATCGAGACCCGACGC chr13:77569887-Variant-C;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative A gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CGTTGCTGACCT CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaAagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAcgttgctgacctAGATCGAGACCCGACGC chr13:77569887-Alternative-A;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Variant C gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CGACAACGTCGT CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAcgacaacgtcgtAGATCGAGACCCGACGC chr13:77569887-Variant-C;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative T gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ACAGCAAGCATA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAacagcaagcataAGATCGAGACCCGACGC chr13:77569887-Alternative-T;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Reference G gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CACGGATGAACC CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAcacggatgaaccAGATCGAGACCCGACGC chr13:77569887-Reference-G;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative T gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ACCGGCAATATA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAaccggcaatataAGATCGAGACCCGACGC chr13:77569887-Alternative-T;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Alternative T gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta GCGACGGTAGAT CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaTagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAgcgacggtagatAGATCGAGACCCGACGC chr13:77569887-Alternative-T;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Variant C gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta CTTGATGGAGAA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaCagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAActtgatggagaaAGATCGAGACCCGACGC chr13:77569887-Variant-C;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Reference G gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ATACGTGTCTGG CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAatacgtgtctggAGATCGAGACCCGACGC chr13:77569887-Reference-G;Patient-87 chr13:77569887-GC DeNovo Patient-87 intronic CLN5 NA 0.000125723 0.65 10.67 2.32 CLN5 3827 Reference G gtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttcta ACCGGTACACGA CGACGCGGTCTCTCTCTgtgtagtggccaaagctggggtggatgagggcctggagtttggggccacaGagtggatatgacagtagcagcatggaagaacagctgaacagttgttctaAGAGGGAGACGGACGTCTCAATAAaccggtacacgaAGATCGAGACCCGACGC chr13:77569887-Reference-G;Patient-87 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Reference C ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa AGCAGTGAATCA CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAagcagtgaatcaAGATCGAGACCCGACGC chr13:77865878-Reference-C;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Reference C ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GTCGCTGGTTCT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgtcgctggttctAGATCGAGACCCGACGC chr13:77865878-Reference-C;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative G ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa CGTCGTTATACT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAcgtcgttatactAGATCGAGACCCGACGC chr13:77865878-Alternative-G;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Variant T ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa CATCGCGGAGAT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAcatcgcggagatAGATCGAGACCCGACGC chr13:77865878-Variant-T;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Reference C ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GTTGTAGTTGAC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgttgtagttgacAGATCGAGACCCGACGC chr13:77865878-Reference-C;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Variant T ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GCGCAAGATAGT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgcgcaagatagtAGATCGAGACCCGACGC chr13:77865878-Variant-T;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Variant T ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa AACGCTCGCTGA CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAaacgctcgctgaAGATCGAGACCCGACGC chr13:77865878-Variant-T;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Reference C ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa ACGAATTCCGAT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAacgaattccgatAGATCGAGACCCGACGC chr13:77865878-Reference-C;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Variant T ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GATGTAGTAACG CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgatgtagtaacgAGATCGAGACCCGACGC chr13:77865878-Variant-T;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative G ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GGTGTCTTCAGG CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAggtgtcttcaggAGATCGAGACCCGACGC chr13:77865878-Alternative-G;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative G ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa ACTAGATCGGAT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAactagatcggatAGATCGAGACCCGACGC chr13:77865878-Alternative-G;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative G ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa AGAGTTGGCGAC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAagagttggcgacAGATCGAGACCCGACGC chr13:77865878-Alternative-G;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Reference C ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GGCGAATTCGCA CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgCggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAggcgaattcgcaAGATCGAGACCCGACGC chr13:77865878-Reference-C;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Variant T ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa ACATAACACGAG CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgTggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAacataacacgagAGATCGAGACCCGACGC chr13:77865878-Variant-T;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative G ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GAATGAAGTCGC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgGggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgaatgaagtcgcAGATCGAGACCCGACGC chr13:77865878-Alternative-G;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative A ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa CAGTTGGTATAC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAcagttggtatacAGATCGAGACCCGACGC chr13:77865878-Alternative-A;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative A ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa AGCGCGGTATGT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAagcgcggtatgtAGATCGAGACCCGACGC chr13:77865878-Alternative-A;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative A ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa AAGTAAGCGCAC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAaagtaagcgcacAGATCGAGACCCGACGC chr13:77865878-Alternative-A;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative A ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa CGCTTACGCGAT CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAcgcttacgcgatAGATCGAGACCCGACGC chr13:77865878-Alternative-A;Patient-55 chr13:77865878-CT Inherited Patient-55 intronic MYCBP2 3.3e-05 4.95e-05 -0.47 0.11 -0.51 MYCBP2 35298 Alternative A ggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaa GCACGAAGATAC CGACGCGGTCTCTCTCTggaggcggaggttgcaatgagccgagatcgtgccattgcactctaacctgAggaacaagagcgaaactctgtctcaaaaaaaaaaaaaaagctaaactaaAGAGGGAGACGGACGTCTCAATAAgcacgaagatacAGATCGAGACCCGACGC chr13:77865878-Alternative-A;Patient-55 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Reference G atgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CGGACTGGATGT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAcggactggatgtAGATCGAGACCCGACGC chr13:78516061-Reference-G;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Reference G atgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca ATTCGACGATAC CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAattcgacgatacAGATCGAGACCCGACGC chr13:78516061-Reference-G;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative T atgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca ATCCGAACATGA CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAatccgaacatgaAGATCGAGACCCGACGC chr13:78516061-Alternative-T;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative T atgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CGCGTGAACGAA CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAcgcgtgaacgaaAGATCGAGACCCGACGC chr13:78516061-Alternative-T;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Reference G atgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GCGTTAGGAACG CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgcgttaggaacgAGATCGAGACCCGACGC chr13:78516061-Reference-G;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Reference G atgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GCATACTTCGTT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgcatacttcgttAGATCGAGACCCGACGC chr13:78516061-Reference-G;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Reference G atgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca ACACAACGTCTA CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaGaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAacacaacgtctaAGATCGAGACCCGACGC chr13:78516061-Reference-G;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative T atgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca AGACCGATGTTC CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAagaccgatgttcAGATCGAGACCCGACGC chr13:78516061-Alternative-T;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative T atgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GTGTATGGACTT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgtgtatggacttAGATCGAGACCCGACGC chr13:78516061-Alternative-T;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Variant C atgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GCGTAAGTAACC CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgcgtaagtaaccAGATCGAGACCCGACGC chr13:78516061-Variant-C;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Variant C atgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CGACTGGTCGAT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAcgactggtcgatAGATCGAGACCCGACGC chr13:78516061-Variant-C;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Variant C atgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GGTTCACCAAGT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAggttcaccaagtAGATCGAGACCCGACGC chr13:78516061-Variant-C;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Variant C atgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GTTCGACGTCTA CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgttcgacgtctaAGATCGAGACCCGACGC chr13:78516061-Variant-C;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative A atgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca ACACACGGATCG CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAacacacggatcgAGATCGAGACCCGACGC chr13:78516061-Alternative-A;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative A atgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CGTAAGGAACTT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAcgtaaggaacttAGATCGAGACCCGACGC chr13:78516061-Alternative-A;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Variant C atgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GTAGGTCGAATA CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaCaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgtaggtcgaataAGATCGAGACCCGACGC chr13:78516061-Variant-C;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative A atgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca ATTGGTACACAG CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAattggtacacagAGATCGAGACCCGACGC chr13:78516061-Alternative-A;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative A atgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CTTAGTAGCGTT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAActtagtagcgttAGATCGAGACCCGACGC chr13:78516061-Alternative-A;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative A atgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca CTTGACTGAAGG CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaAaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAActtgactgaaggAGATCGAGACCCGACGC chr13:78516061-Alternative-A;Patient-30 chr13:78516061-GC Inherited Patient-30 intergenic 9.6e-05 0.000302 NA NA NA EDNRB 22157 Alternative T atgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaaca GATCCTCGTGCT CGACGCGGTCTCTCTCTatgtttagtattttgttactattcataaacatcagtgcagagagatggaaTaatagaaggctttgtcagtattatgaagcagtctgataaaatttaaacaAGAGGGAGACGGACGTCTCAATAAgatcctcgtgctAGATCGAGACCCGACGC chr13:78516061-Alternative-T;Patient-30 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative A ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ATAGACGGAGAA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAatagacggagaaAGATCGAGACCCGACGC chr13:80833466-Alternative-A;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative A ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg AGCCGTCATTCG CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAagccgtcattcgAGATCGAGACCCGACGC chr13:80833466-Alternative-A;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative A ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GTTAGATCCGCA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAgttagatccgcaAGATCGAGACCCGACGC chr13:80833466-Alternative-A;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative A ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ACGTGGAGCCAA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAacgtggagccaaAGATCGAGACCCGACGC chr13:80833466-Alternative-A;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative G ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg AGCGGTACTAAT CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAagcggtactaatAGATCGAGACCCGACGC chr13:80833466-Alternative-G;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Reference C ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ACCGATACACCA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAaccgatacaccaAGATCGAGACCCGACGC chr13:80833466-Reference-C;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Reference C ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ACCGTCGAATTA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAaccgtcgaattaAGATCGAGACCCGACGC chr13:80833466-Reference-C;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Reference C ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GAGACTGCCAAC CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAgagactgccaacAGATCGAGACCCGACGC chr13:80833466-Reference-C;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Reference C ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GGTACCTATGTT CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAggtacctatgttAGATCGAGACCCGACGC chr13:80833466-Reference-C;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative G ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GTACCAGTAACT CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAgtaccagtaactAGATCGAGACCCGACGC chr13:80833466-Alternative-G;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative G ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ACTTCGACGACG CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAacttcgacgacgAGATCGAGACCCGACGC chr13:80833466-Alternative-G;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative G ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GGAACAAGCAGT CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAggaacaagcagtAGATCGAGACCCGACGC chr13:80833466-Alternative-G;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Variant T ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg ATCGTGTGATCA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAatcgtgtgatcaAGATCGAGACCCGACGC chr13:80833466-Variant-T;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Variant T ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg CGCGCAGTTAAC CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAcgcgcagttaacAGATCGAGACCCGACGC chr13:80833466-Variant-T;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Variant T ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GAAGTTACGCAG CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAgaagttacgcagAGATCGAGACCCGACGC chr13:80833466-Variant-T;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative G ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg CTATTGGCGCAG CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagGagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAActattggcgcagAGATCGAGACCCGACGC chr13:80833466-Alternative-G;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Alternative A ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg CAACTGCTGTGG CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagAagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAcaactgctgtggAGATCGAGACCCGACGC chr13:80833466-Alternative-A;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Reference C ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GCCGAATACGCA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagCagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAgccgaatacgcaAGATCGAGACCCGACGC chr13:80833466-Reference-C;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Variant T ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg CGCTACGAACGA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAcgctacgaacgaAGATCGAGACCCGACGC chr13:80833466-Variant-T;Patient-59 chr13:80833466-CT DeNovo Patient-59 intergenic NA 0.000513 -0.04 2.06 0.27 SPRY2 81619 Variant T ttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagagg GGTGCCGCATTA CGACGCGGTCTCTCTCTttggttggaaagtataagagagaacagcacctgttacagagtaagggaagTagtgttgggcaaaaggagactttgtactgtgagacagttgtgccagaggAGAGGGAGACGGACGTCTCAATAAggtgccgcattaAGATCGAGACCCGACGC chr13:80833466-Variant-T;Patient-59 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Reference T tctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa CTTGGATTGTGA CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAActtggattgtgaAGATCGAGACCCGACGC chr13:80945373-Reference-T;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Reference T tctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa AACGCACCTAAT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAaacgcacctaatAGATCGAGACCCGACGC chr13:80945373-Reference-T;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Reference T tctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GGATCCATTACA CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAggatccattacaAGATCGAGACCCGACGC chr13:80945373-Reference-T;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative A tctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GTCATGTTCAAG CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAgtcatgttcaagAGATCGAGACCCGACGC chr13:80945373-Alternative-A;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Variant C tctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa AATCGCGTATGT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAaatcgcgtatgtAGATCGAGACCCGACGC chr13:80945373-Variant-C;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Reference T tctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GACCATCGAGCT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAgaccatcgagctAGATCGAGACCCGACGC chr13:80945373-Reference-T;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative A tctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa CGATCTGTTATC CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAcgatctgttatcAGATCGAGACCCGACGC chr13:80945373-Alternative-A;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative A tctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa ACCGGATAACGG CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAaccggataacggAGATCGAGACCCGACGC chr13:80945373-Alternative-A;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative G tctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa ACACGCATCTAT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAacacgcatctatAGATCGAGACCCGACGC chr13:80945373-Alternative-G;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative A tctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa ACCGAATAGTGT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAaccgaatagtgtAGATCGAGACCCGACGC chr13:80945373-Alternative-A;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative G tctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa CTCGTAACTACA CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAActcgtaactacaAGATCGAGACCCGACGC chr13:80945373-Alternative-G;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative A tctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GGATATGTATGG CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacAgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAggatatgtatggAGATCGAGACCCGACGC chr13:80945373-Alternative-A;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Variant C tctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa ATAGCGACAACA CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAatagcgacaacaAGATCGAGACCCGACGC chr13:80945373-Variant-C;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Reference T tctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa CACGGAATTGTT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacTgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAcacggaattgttAGATCGAGACCCGACGC chr13:80945373-Reference-T;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Variant C tctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GGTTCTGTCGCT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAggttctgtcgctAGATCGAGACCCGACGC chr13:80945373-Variant-C;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Variant C tctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa AAGTTCGCGAGT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAaagttcgcgagtAGATCGAGACCCGACGC chr13:80945373-Variant-C;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Variant C tctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa CTAACGGAGAAG CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacCgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAActaacggagaagAGATCGAGACCCGACGC chr13:80945373-Variant-C;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative G tctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GACGCGAATCAG CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAgacgcgaatcagAGATCGAGACCCGACGC chr13:80945373-Alternative-G;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative G tctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GTCGACTCCGTT CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAgtcgactccgttAGATCGAGACCCGACGC chr13:80945373-Alternative-G;Patient-91 chr13:80945373-TC DeNovo Patient-91 intergenic NA 0.000512821 0.78 11.68 0.67 SPRY2 30286 Alternative G tctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaa GTCATAGTACGA CGACGCGGTCTCTCTCTtctttgagtataggataaaagctctataaatcataaatattgatagatacGgtcagttctgctatacccagcatgtgttcttaaggtgtgtactgtgcaaAGAGGGAGACGGACGTCTCAATAAgtcatagtacgaAGATCGAGACCCGACGC chr13:80945373-Alternative-G;Patient-91 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Reference T aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GCACGTAACGTC CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgcacgtaacgtcAGATCGAGACCCGACGC chr13:84512702-Reference-T;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Reference T aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta CTCGGCATATAA CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAActcggcatataaAGATCGAGACCCGACGC chr13:84512702-Reference-T;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative C aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ATTCGCTTCGGC CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAattcgcttcggcAGATCGAGACCCGACGC chr13:84512702-Alternative-C;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Reference T aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta CAATGTGGACTT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAcaatgtggacttAGATCGAGACCCGACGC chr13:84512702-Reference-T;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Variant A aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggtta AACAACCTACCA CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAaacaacctaccaAGATCGAGACCCGACGC chr13:84512702-Variant-A;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative C aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ACCACGGTTAAT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAaccacggttaatAGATCGAGACCCGACGC chr13:84512702-Alternative-C;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative G aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta CGACACGTGGTT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAcgacacgtggttAGATCGAGACCCGACGC chr13:84512702-Alternative-G;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Reference T aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ACAGATCCGCTA CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAacagatccgctaAGATCGAGACCCGACGC chr13:84512702-Reference-T;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative G aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GCGTCTGTCGAT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgcgtctgtcgatAGATCGAGACCCGACGC chr13:84512702-Alternative-G;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Reference T aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ATACGTAGTGCT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttTctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAatacgtagtgctAGATCGAGACCCGACGC chr13:84512702-Reference-T;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Variant A aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GCGTTACCTCGT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgcgttacctcgtAGATCGAGACCCGACGC chr13:84512702-Variant-A;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Variant A aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ATAGGCCGGTCA CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAataggccggtcaAGATCGAGACCCGACGC chr13:84512702-Variant-A;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative G aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ATTGCGAGCGTC CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAattgcgagcgtcAGATCGAGACCCGACGC chr13:84512702-Alternative-G;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative G aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GTAACCTTAGGT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgtaaccttaggtAGATCGAGACCCGACGC chr13:84512702-Alternative-G;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Variant A aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggtta AGAACGTGTGAT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAagaacgtgtgatAGATCGAGACCCGACGC chr13:84512702-Variant-A;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative G aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta CACAGCTAACGC CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttGctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAcacagctaacgcAGATCGAGACCCGACGC chr13:84512702-Alternative-G;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative C aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta ACGCATCTAAGT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAacgcatctaagtAGATCGAGACCCGACGC chr13:84512702-Alternative-C;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Variant A aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GCGTGTGTTATA CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttActggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgcgtgtgttataAGATCGAGACCCGACGC chr13:84512702-Variant-A;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative C aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta GCGGCTAATTCG CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAgcggctaattcgAGATCGAGACCCGACGC chr13:84512702-Alternative-C;Patient-82 chr13:84512702-TA DeNovo Patient-82 intergenic 0.000383 0.000513 0.16 5.22 2.07 SLITRK1 56173 Alternative C aatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggtta AGCGTGGTCAAT CGACGCGGTCTCTCTCTaatgcatttattgtgttggttgggttgtgttatattgtgctttggcttttCctggttactaaacagttaaagaaaataggtcatagggcatgttgggttaAGAGGGAGACGGACGTCTCAATAAagcgtggtcaatAGATCGAGACCCGACGC chr13:84512702-Alternative-C;Patient-82 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Reference T aggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc GGTGAACGCAGT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAggtgaacgcagtAGATCGAGACCCGACGC chr13:96378098-Reference-T;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Reference T aggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc AACCGATGAACT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAaaccgatgaactAGATCGAGACCCGACGC chr13:96378098-Reference-T;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Reference T aggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CAACCACGAGCT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAcaaccacgagctAGATCGAGACCCGACGC chr13:96378098-Reference-T;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Reference T aggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc AGTTACTACACG CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAagttactacacgAGATCGAGACCCGACGC chr13:96378098-Reference-T;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative C aggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CGCCTAACGAAG CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAcgcctaacgaagAGATCGAGACCCGACGC chr13:96378098-Alternative-C;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative A aggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ACACCGGTGTTC CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAacaccggtgttcAGATCGAGACCCGACGC chr13:96378098-Alternative-A;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative A aggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CTGGTCGGTAAC CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAActggtcggtaacAGATCGAGACCCGACGC chr13:96378098-Alternative-A;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Variant G aggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc GATCATGGACTT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAgatcatggacttAGATCGAGACCCGACGC chr13:96378098-Variant-G;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative A aggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ACATGCCTAGAA CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAacatgcctagaaAGATCGAGACCCGACGC chr13:96378098-Alternative-A;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Reference T aggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ACCTTCATCCGC CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagTccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAaccttcatccgcAGATCGAGACCCGACGC chr13:96378098-Reference-T;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative A aggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc AGCCGACGAGTT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAagccgacgagttAGATCGAGACCCGACGC chr13:96378098-Alternative-A;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative C aggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CTGTGTTGGACG CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAActgtgttggacgAGATCGAGACCCGACGC chr13:96378098-Alternative-C;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative C aggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ATAGGTAAGCGT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAataggtaagcgtAGATCGAGACCCGACGC chr13:96378098-Alternative-C;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative A aggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ATACGAACTTCG CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagAccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAatacgaacttcgAGATCGAGACCCGACGC chr13:96378098-Alternative-A;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Variant G aggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CTCACCGCAACA CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAActcaccgcaacaAGATCGAGACCCGACGC chr13:96378098-Variant-G;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative C aggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CTTAGCTGAACA CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAActtagctgaacaAGATCGAGACCCGACGC chr13:96378098-Alternative-C;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Alternative C aggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc AACGCCGCAATC CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagCccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAaacgccgcaatcAGATCGAGACCCGACGC chr13:96378098-Alternative-C;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Variant G aggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CGCTATCAATGT CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAcgctatcaatgtAGATCGAGACCCGACGC chr13:96378098-Variant-G;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Variant G aggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc CGCGAAGTTCGA CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAcgcgaagttcgaAGATCGAGACCCGACGC chr13:96378098-Variant-G;Patient-85 chr13:96378098-TG Inherited Patient-85 intronic DNAJC3 NA 0.000297 -0.4 0.18 0 DNAJC3 48704 Variant G aggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttc ACGTATGCACCG CGACGCGGTCTCTCTCTaggtatatctcctaatgctatccctcccccctccccccaccccacaacagGccccggagtgtgatgttccccttcctgtgtccacgtgttctcattgttcAGAGGGAGACGGACGTCTCAATAAacgtatgcaccgAGATCGAGACCCGACGC chr13:96378098-Variant-G;Patient-85 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Variant C gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggcc ACAGCGGACGTT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAacagcggacgttAGATCGAGACCCGACGC chr13:99661393-Variant-C;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Variant C gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CAGGAGTTCCGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAcaggagttccgtAGATCGAGACCCGACGC chr13:99661393-Variant-C;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Variant C gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggcc AATAGCCGGCGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAaatagccggcgtAGATCGAGACCCGACGC chr13:99661393-Variant-C;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Reference T gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CTCAACGGATCG CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAActcaacggatcgAGATCGAGACCCGACGC chr13:99661393-Reference-T;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative A gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggcc AACTAGTCTCGA CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAaactagtctcgaAGATCGAGACCCGACGC chr13:99661393-Alternative-A;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Reference T gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CAGCGGCATCTA CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAcagcggcatctaAGATCGAGACCCGACGC chr13:99661393-Reference-T;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative G gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggcc GTTATTCGTACC CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAgttattcgtaccAGATCGAGACCCGACGC chr13:99661393-Alternative-G;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Reference T gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggcc GTTGTGGTGTCG CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAgttgtggtgtcgAGATCGAGACCCGACGC chr13:99661393-Reference-T;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative A gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CGGTCCATAGGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAcggtccataggtAGATCGAGACCCGACGC chr13:99661393-Alternative-A;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Reference T gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggcc AGGAATGCCGGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAaggaatgccggtAGATCGAGACCCGACGC chr13:99661393-Reference-T;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Reference T gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggcc ATCCGAATACGC CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacTgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAatccgaatacgcAGATCGAGACCCGACGC chr13:99661393-Reference-T;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative G gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CACGAAGATGCA CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAcacgaagatgcaAGATCGAGACCCGACGC chr13:99661393-Alternative-G;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative G gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CTCAACCGTACG CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAActcaaccgtacgAGATCGAGACCCGACGC chr13:99661393-Alternative-G;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative G gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggcc GAGAGCACAAGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAgagagcacaagtAGATCGAGACCCGACGC chr13:99661393-Alternative-G;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative A gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggcc GCCGAATAGTAT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAgccgaatagtatAGATCGAGACCCGACGC chr13:99661393-Alternative-A;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative G gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggcc AATGTTGGACCG CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacGgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAaatgttggaccgAGATCGAGACCCGACGC chr13:99661393-Alternative-G;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative A gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CTGAGCGCCTAT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAActgagcgcctatAGATCGAGACCCGACGC chr13:99661393-Alternative-A;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Variant C gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggcc GACCGAACCAGT CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAgaccgaaccagtAGATCGAGACCCGACGC chr13:99661393-Variant-C;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Alternative A gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggcc AATACTTGGTCG CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacAgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAAaatacttggtcgAGATCGAGACCCGACGC chr13:99661393-Alternative-A;Patient-25 chr13:99661393-TC Inherited Patient-25 intronic DOCK9 9.6e-05 4.95e-05 0.08 3.92 -0.84 DOCK9 77266 Variant C gtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggcc CTGTCATATCGC CGACGCGGTCTCTCTCTgtgcattactagtttatactttaataaatattaaagcaaaggaatcccacCgataaataagacagtatattttaacaaagttctggggaaaggtctggccAGAGGGAGACGGACGTCTCAATAActgtcatatcgcAGATCGAGACCCGACGC chr13:99661393-Variant-C;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Variant G ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ATCAACGCGTGG CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAatcaacgcgtggAGATCGAGACCCGACGC chr14:100031935-Variant-G;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Variant G ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga CGCATTATTCGA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAcgcattattcgaAGATCGAGACCCGACGC chr14:100031935-Variant-G;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Variant G ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ACGCGAGAGCAA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAacgcgagagcaaAGATCGAGACCCGACGC chr14:100031935-Variant-G;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Variant G ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ATCGGAAGCGCA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAatcggaagcgcaAGATCGAGACCCGACGC chr14:100031935-Variant-G;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Variant G ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga AGACGGTTAACA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagGcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAagacggttaacaAGATCGAGACCCGACGC chr14:100031935-Variant-G;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative T ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GCGAGCGTTACA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAgcgagcgttacaAGATCGAGACCCGACGC chr14:100031935-Alternative-T;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative T ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga AGAGCCTTGATA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAagagccttgataAGATCGAGACCCGACGC chr14:100031935-Alternative-T;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative A ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga CGCTATTGCAAT CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAcgctattgcaatAGATCGAGACCCGACGC chr14:100031935-Alternative-A;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative T ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ACTCTTACGAGA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAactcttacgagaAGATCGAGACCCGACGC chr14:100031935-Alternative-T;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative T ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ATATGCGACGTC CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAatatgcgacgtcAGATCGAGACCCGACGC chr14:100031935-Alternative-T;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative A ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GACCGCTCATGA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAgaccgctcatgaAGATCGAGACCCGACGC chr14:100031935-Alternative-A;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Reference C ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga AGCTTGACGACC CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAagcttgacgaccAGATCGAGACCCGACGC chr14:100031935-Reference-C;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative A ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga AACCGGTGAACC CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAaaccggtgaaccAGATCGAGACCCGACGC chr14:100031935-Alternative-A;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative T ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga ACGCAACCGCAT CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagTcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAacgcaaccgcatAGATCGAGACCCGACGC chr14:100031935-Alternative-T;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Reference C ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GGTTACCAACCA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAggttaccaaccaAGATCGAGACCCGACGC chr14:100031935-Reference-C;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative A ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GGATACCGCATC CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAggataccgcatcAGATCGAGACCCGACGC chr14:100031935-Alternative-A;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Alternative A ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga CTTGACAGGTAA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagAcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAActtgacaggtaaAGATCGAGACCCGACGC chr14:100031935-Alternative-A;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Reference C ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GGTAATCGTTCA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAggtaatcgttcaAGATCGAGACCCGACGC chr14:100031935-Reference-C;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Reference C ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga CGGACGATTCGT CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAcggacgattcgtAGATCGAGACCCGACGC chr14:100031935-Reference-C;Patient-25 chr14:100031935-CG Inherited Patient-25 intronic CCDC85C 6.4e-05 4.95e-05 0.09 4.1 0.28 CCDC85C 38791 Reference C ctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaaga GTCGCACTTCCA CGACGCGGTCTCTCTCTctccaggtgcatgaacccaggggcagagtgtgtctctgtgattcatgcagCcaggagggaggctgggagcgggggcaggctgcatgggcagccgggaagaAGAGGGAGACGGACGTCTCAATAAgtcgcacttccaAGATCGAGACCCGACGC chr14:100031935-Reference-C;Patient-25 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative A cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CTGCGATTCATT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAActgcgattcattAGATCGAGACCCGACGC chr14:100156355-Alternative-A;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative A cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CAGCATAGATGA CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcagcatagatgaAGATCGAGACCCGACGC chr14:100156355-Alternative-A;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative G cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggacc ATAGGTAGCACA CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAataggtagcacaAGATCGAGACCCGACGC chr14:100156355-Alternative-G;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Reference C cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CAGGTAGTTGCG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcaggtagttgcgAGATCGAGACCCGACGC chr14:100156355-Reference-C;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Reference C cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggacc AGAGTTACTACG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAagagttactacgAGATCGAGACCCGACGC chr14:100156355-Reference-C;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Reference C cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CGTGTGGACCAT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcgtgtggaccatAGATCGAGACCCGACGC chr14:100156355-Reference-C;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative A cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CGCTAAGGTTCG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcgctaaggttcgAGATCGAGACCCGACGC chr14:100156355-Alternative-A;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Reference C cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CAACGGATTATC CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcaacggattatcAGATCGAGACCCGACGC chr14:100156355-Reference-C;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Variant T cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GTATTGCGGAGT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAgtattgcggagtAGATCGAGACCCGACGC chr14:100156355-Variant-T;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative A cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GACTATGTTACG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAgactatgttacgAGATCGAGACCCGACGC chr14:100156355-Alternative-A;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Reference C cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GGTGACGAGTGT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccCgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAggtgacgagtgtAGATCGAGACCCGACGC chr14:100156355-Reference-C;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Variant T cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggacc AAGACGAAGAGT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAaagacgaagagtAGATCGAGACCCGACGC chr14:100156355-Variant-T;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Variant T cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggacc ACCGAATACGTT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAaccgaatacgttAGATCGAGACCCGACGC chr14:100156355-Variant-T;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative G cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggacc ACGAGTATCCAT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAacgagtatccatAGATCGAGACCCGACGC chr14:100156355-Alternative-G;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Variant T cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggacc ACGACAATGCGC CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAacgacaatgcgcAGATCGAGACCCGACGC chr14:100156355-Variant-T;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative A cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CGGTATCAAGAA CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccAgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcggtatcaagaaAGATCGAGACCCGACGC chr14:100156355-Alternative-A;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Variant T cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GGCTAATTCCGG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccTgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAggctaattccggAGATCGAGACCCGACGC chr14:100156355-Variant-T;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative G cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GTCAAGACCAAG CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAgtcaagaccaagAGATCGAGACCCGACGC chr14:100156355-Alternative-G;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative G cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggacc GTGGCTAGTCAC CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAgtggctagtcacAGATCGAGACCCGACGC chr14:100156355-Alternative-G;Patient-76 chr14:100156355-CT DeNovo Patient-76 intronic CYP46A1 NA 4.95e-05 -0.27 0.45 -0.44 CYP46A1 5599 Alternative G cccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggacc CACGCAACGAAT CGACGCGGTCTCTCTCTcccagtcttggtgacccaccttgtactctgtttccctcaagtactctgccGgagccacactggcttcctcactgtccaagcacactctgacctcaggaccAGAGGGAGACGGACGTCTCAATAAcacgcaacgaatAGATCGAGACCCGACGC chr14:100156355-Alternative-G;Patient-76 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Reference C aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AGTTAAGGCCGC CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAagttaaggccgcAGATCGAGACCCGACGC chr14:100329013-Reference-C;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative A aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AGACGGCGTACA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAagacggcgtacaAGATCGAGACCCGACGC chr14:100329013-Alternative-A;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Reference C aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg GACTGATGTAAG CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAgactgatgtaagAGATCGAGACCCGACGC chr14:100329013-Reference-C;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Reference C aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg GATCATGTGAGA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAgatcatgtgagaAGATCGAGACCCGACGC chr14:100329013-Reference-C;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative A aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AGTTCGCTGGAC CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAagttcgctggacAGATCGAGACCCGACGC chr14:100329013-Alternative-A;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Reference C aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg ATTACGTAGCCA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAattacgtagccaAGATCGAGACCCGACGC chr14:100329013-Reference-C;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Reference C aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AACGCGTACTAT CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcCgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAaacgcgtactatAGATCGAGACCCGACGC chr14:100329013-Reference-C;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative A aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg GATTGCTTCTGT CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAgattgcttctgtAGATCGAGACCCGACGC chr14:100329013-Alternative-A;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative A aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg ACAGCAGTAAGG CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAacagcagtaaggAGATCGAGACCCGACGC chr14:100329013-Alternative-A;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative G aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg CTCGCATACGAA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAActcgcatacgaaAGATCGAGACCCGACGC chr14:100329013-Alternative-G;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Variant T aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg ACGCGCACAATC CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAacgcgcacaatcAGATCGAGACCCGACGC chr14:100329013-Variant-T;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative G aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg GGTTATACGTGT CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAggttatacgtgtAGATCGAGACCCGACGC chr14:100329013-Alternative-G;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative G aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg ACTCTCTCAACA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAactctctcaacaAGATCGAGACCCGACGC chr14:100329013-Alternative-G;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative G aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AATGGACCGCAG CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAaatggaccgcagAGATCGAGACCCGACGC chr14:100329013-Alternative-G;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative A aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AGCAGCTTCTGG CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcAgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAagcagcttctggAGATCGAGACCCGACGC chr14:100329013-Alternative-A;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Variant T aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg CACGTCAACTAA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAcacgtcaactaaAGATCGAGACCCGACGC chr14:100329013-Variant-T;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Alternative G aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg GCGAAGTGGCTA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcGgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAgcgaagtggctaAGATCGAGACCCGACGC chr14:100329013-Alternative-G;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Variant T aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg AGTGAGGTCGTT CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAagtgaggtcgttAGATCGAGACCCGACGC chr14:100329013-Variant-T;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Variant T aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg CAACAAGGTCTT CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAAcaacaaggtcttAGATCGAGACCCGACGC chr14:100329013-Variant-T;Patient-100 chr14:100329013-CT DeNovo Patient-100 intronic EML1 3.2e-05 3.91e-05 -0.1 1.42 0.42 EML1 69267 Variant T aattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttg CTACGGAGTCGA CGACGCGGTCTCTCTCTaattgttccagctttggcctttgggagctctttcagttaggttttgtgtcTgtttgacttgcccccaccaaaatagtgtcttttggttttgttgttgttgAGAGGGAGACGGACGTCTCAATAActacggagtcgaAGATCGAGACCCGACGC chr14:100329013-Variant-T;Patient-100 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Variant T cccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GCGTTGGACAAG CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAgcgttggacaagAGATCGAGACCCGACGC chr14:100621237-Variant-T;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Variant T cccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GAAGTGACTCTA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAgaagtgactctaAGATCGAGACCCGACGC chr14:100621237-Variant-T;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Variant T cccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc AGGTGATCGTTA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAaggtgatcgttaAGATCGAGACCCGACGC chr14:100621237-Variant-T;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative G cccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CAGTCGTGAGCT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAcagtcgtgagctAGATCGAGACCCGACGC chr14:100621237-Alternative-G;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative A cccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CTACGCATCGCT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAActacgcatcgctAGATCGAGACCCGACGC chr14:100621237-Alternative-A;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative G cccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc ACCGTGGACTTA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAaccgtggacttaAGATCGAGACCCGACGC chr14:100621237-Alternative-G;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative A cccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctc AGCTTGATGGAA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAagcttgatggaaAGATCGAGACCCGACGC chr14:100621237-Alternative-A;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Variant T cccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc ACCGGACTACGA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAaccggactacgaAGATCGAGACCCGACGC chr14:100621237-Variant-T;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Reference C cccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc AATCTGGTTGCA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAaatctggttgcaAGATCGAGACCCGACGC chr14:100621237-Reference-C;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Reference C cccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GAGCACGAGATT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAgagcacgagattAGATCGAGACCCGACGC chr14:100621237-Reference-C;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative G cccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GGTGCGGATGTT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAggtgcggatgttAGATCGAGACCCGACGC chr14:100621237-Alternative-G;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative G cccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CTAGCGTCAACA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAActagcgtcaacaAGATCGAGACCCGACGC chr14:100621237-Alternative-G;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Reference C cccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CGGCATTATAGT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAcggcattatagtAGATCGAGACCCGACGC chr14:100621237-Reference-C;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Variant T cccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GTACTACGGTAT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctTctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAgtactacggtatAGATCGAGACCCGACGC chr14:100621237-Variant-T;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative A cccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctc AGCTACGCAAGT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAagctacgcaagtAGATCGAGACCCGACGC chr14:100621237-Alternative-A;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative G cccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CTTACACCGACC CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctGctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAActtacaccgaccAGATCGAGACCCGACGC chr14:100621237-Alternative-G;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative A cccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctc GTCTCTGCGGAT CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAgtctctgcggatAGATCGAGACCCGACGC chr14:100621237-Alternative-A;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Alternative A cccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CACAGATGCGCA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctActgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAcacagatgcgcaAGATCGAGACCCGACGC chr14:100621237-Alternative-A;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Reference C cccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc ATCGCTAGCGCA CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAAatcgctagcgcaAGATCGAGACCCGACGC chr14:100621237-Reference-C;Patient-27 chr14:100621237-CT DeNovo Patient-27 intronic DEGS2 0.000414 0.000198 -0.01 2.54 -3.21 DEGS2 4774 Reference C cccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctc CTTAGGCGTACG CGACGCGGTCTCTCTCTcccacgccacacccctactcccagtcacaggccactccacccctgcccctCctgactagctggcaataaagtcacttttgtcttgtccccagcagggctcAGAGGGAGACGGACGTCTCAATAActtaggcgtacgAGATCGAGACCCGACGC chr14:100621237-Reference-C;Patient-27 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Reference T tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcag CGGAACTTAACT CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAcggaacttaactAGATCGAGACCCGACGC chr14:100681988-Reference-T;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative G tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AGGCTGACCACA CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAaggctgaccacaAGATCGAGACCCGACGC chr14:100681988-Alternative-G;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative C tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GTTGTTGCGTGG CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAgttgttgcgtggAGATCGAGACCCGACGC chr14:100681988-Alternative-C;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative G tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GCCAATCTGACA CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAgccaatctgacaAGATCGAGACCCGACGC chr14:100681988-Alternative-G;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Reference T tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcag ACGTTGCGTGGT CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAacgttgcgtggtAGATCGAGACCCGACGC chr14:100681988-Reference-T;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative G tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcag ACTACGTTGTTC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAactacgttgttcAGATCGAGACCCGACGC chr14:100681988-Alternative-G;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Reference T tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcag CTCTCGTTGTGG CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAActctcgttgtggAGATCGAGACCCGACGC chr14:100681988-Reference-T;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative G tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AAGGCGGACTTC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAaaggcggacttcAGATCGAGACCCGACGC chr14:100681988-Alternative-G;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative C tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GTATCCGTGGAC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAgtatccgtggacAGATCGAGACCCGACGC chr14:100681988-Alternative-C;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Variant A tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GATGATCCTCTT CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAgatgatcctcttAGATCGAGACCCGACGC chr14:100681988-Variant-A;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Reference T tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AAGTGTTCCAAC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAaagtgttccaacAGATCGAGACCCGACGC chr14:100681988-Reference-T;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative G tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AGTGTTCGTCGC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttGggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAagtgttcgtcgcAGATCGAGACCCGACGC chr14:100681988-Alternative-G;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Variant A tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GAGGTTATTCGT CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAgaggttattcgtAGATCGAGACCCGACGC chr14:100681988-Variant-A;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Variant A tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcag CTAGCGAGTCGT CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAActagcgagtcgtAGATCGAGACCCGACGC chr14:100681988-Variant-A;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Variant A tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AGATGGTCGACG CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAagatggtcgacgAGATCGAGACCCGACGC chr14:100681988-Variant-A;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Reference T tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GGAACAAGGTTA CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttTggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAggaacaaggttaAGATCGAGACCCGACGC chr14:100681988-Reference-T;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative C tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcag AGCTTACGACCG CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAagcttacgaccgAGATCGAGACCCGACGC chr14:100681988-Alternative-C;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Variant A tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcag ACGAATATCCGC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttAggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAacgaatatccgcAGATCGAGACCCGACGC chr14:100681988-Variant-A;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative C tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GGACGTGTTAAC CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAggacgtgttaacAGATCGAGACCCGACGC chr14:100681988-Alternative-C;Patient-8 chr14:100681988-TA Inherited Patient-8 intergenic 0.000606 0.001025641 -0.05 1.92 -2.47 YY1 23113 Alternative C tgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcag GGAACATTGGAA CGACGCGGTCTCTCTCTtgcctccagttcagcaggacacagcagaagggtaggataggcaagtggttCggccacaggtgagggccctgagtctgacagtaaatctacattttatcagAGAGGGAGACGGACGTCTCAATAAggaacattggaaAGATCGAGACCCGACGC chr14:100681988-Alternative-C;Patient-8 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Reference G tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GACGACGTCTAC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgacgacgtctacAGATCGAGACCCGACGC chr14:100720623-Reference-G;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative T tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GATGCCTGATTA CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgatgcctgattaAGATCGAGACCCGACGC chr14:100720623-Alternative-T;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative T tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt AGTACACCGTCG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAagtacaccgtcgAGATCGAGACCCGACGC chr14:100720623-Alternative-T;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative C tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt CGGTCCAACAAG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAcggtccaacaagAGATCGAGACCCGACGC chr14:100720623-Alternative-C;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Variant A tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt CGACAGATCGTC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAcgacagatcgtcAGATCGAGACCCGACGC chr14:100720623-Variant-A;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Reference G tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt CAGCATTCGCAG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAcagcattcgcagAGATCGAGACCCGACGC chr14:100720623-Reference-G;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Reference G tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GATACGGCTGAG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgatacggctgagAGATCGAGACCCGACGC chr14:100720623-Reference-G;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative C tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt CGGATGTGCTGA CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAcggatgtgctgaAGATCGAGACCCGACGC chr14:100720623-Alternative-C;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Reference G tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GGCTGACGCTAT CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAggctgacgctatAGATCGAGACCCGACGC chr14:100720623-Reference-G;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Variant A tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt CAAGACTGACCG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAcaagactgaccgAGATCGAGACCCGACGC chr14:100720623-Variant-A;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Variant A tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GATAGGCGTACG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgataggcgtacgAGATCGAGACCCGACGC chr14:100720623-Variant-A;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative T tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt ACGTGTACCGAC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAacgtgtaccgacAGATCGAGACCCGACGC chr14:100720623-Alternative-T;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Variant A tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GCCGAACTATGG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgccgaactatggAGATCGAGACCCGACGC chr14:100720623-Variant-A;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative T tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt ATCTGCTATTCG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAatctgctattcgAGATCGAGACCCGACGC chr14:100720623-Alternative-T;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative T tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt AACACGCGTACG CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgTccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAaacacgcgtacgAGATCGAGACCCGACGC chr14:100720623-Alternative-T;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Variant A tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GGATCACGGACA CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgAccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAggatcacggacaAGATCGAGACCCGACGC chr14:100720623-Variant-A;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Reference G tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt ACGCACTCACGA CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgGccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAacgcactcacgaAGATCGAGACCCGACGC chr14:100720623-Reference-G;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative C tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GTTAGATGCGGC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAgttagatgcggcAGATCGAGACCCGACGC chr14:100720623-Alternative-C;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative C tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt GGTTGAGGACAC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAggttgaggacacAGATCGAGACCCGACGC chr14:100720623-Alternative-C;Patient-94 chr14:100720623-GA DeNovo Patient-94 intronic YY1 0.000478 0.000148 NA NA NA YY1 15520 Alternative C tctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgt AGTTGACTGAAC CGACGCGGTCTCTCTCTtctatttggtaaaaacttctgattttctttttgcaaaaattagcaaaatgCccaaatgatagcaaatattgacattatttaatgtattgctttattgtgtAGAGGGAGACGGACGTCTCAATAAagttgactgaacAGATCGAGACCCGACGC chr14:100720623-Alternative-C;Patient-94 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Reference C ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CTCTTCGACACT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAActcttcgacactAGATCGAGACCCGACGC chr14:101241136-Reference-C;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Reference C ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGTTATACGTCT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgttatacgtctAGATCGAGACCCGACGC chr14:101241136-Reference-C;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Reference C ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt GTCAGTTAGCAA CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAgtcagttagcaaAGATCGAGACCCGACGC chr14:101241136-Reference-C;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative A ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt ATCATCGGCGGT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAatcatcggcggtAGATCGAGACCCGACGC chr14:101241136-Alternative-A;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative G ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGAGCTCTATAC CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgagctctatacAGATCGAGACCCGACGC chr14:101241136-Alternative-G;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative A ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt GCAACGAAGATT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAgcaacgaagattAGATCGAGACCCGACGC chr14:101241136-Alternative-A;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative G ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGTCTAAGAATC CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgtctaagaatcAGATCGAGACCCGACGC chr14:101241136-Alternative-G;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative A ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt ATAGCGAATGGT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAatagcgaatggtAGATCGAGACCCGACGC chr14:101241136-Alternative-A;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative A ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt GGTAACTACGAA CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAggtaactacgaaAGATCGAGACCCGACGC chr14:101241136-Alternative-A;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Variant T ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGTAGCGTTACG CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgtagcgttacgAGATCGAGACCCGACGC chr14:101241136-Variant-T;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative G ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CAACGTAGGTGG CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcaacgtaggtggAGATCGAGACCCGACGC chr14:101241136-Alternative-G;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative G ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CACGTTGCGTAC CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcacgttgcgtacAGATCGAGACCCGACGC chr14:101241136-Alternative-G;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Reference C ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CACAATCGGCAG CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcacaatcggcagAGATCGAGACCCGACGC chr14:101241136-Reference-C;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative A ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CTACGGCCAATC CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaAgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAActacggccaatcAGATCGAGACCCGACGC chr14:101241136-Alternative-A;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Reference C ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGAATGGTTCAC CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaCgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgaatggttcacAGATCGAGACCCGACGC chr14:101241136-Reference-C;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Variant T ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt GTTGTACGCAAT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAgttgtacgcaatAGATCGAGACCCGACGC chr14:101241136-Variant-T;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Variant T ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt GACGTAACACGT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAgacgtaacacgtAGATCGAGACCCGACGC chr14:101241136-Variant-T;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Alternative G ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt AGTACACGGCTA CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaGgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAagtacacggctaAGATCGAGACCCGACGC chr14:101241136-Alternative-G;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Variant T ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt CGCCAAGTATTA CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAcgccaagtattaAGATCGAGACCCGACGC chr14:101241136-Variant-T;Patient-85 chr14:101241136-CT Inherited Patient-85 intergenic 6.4e-05 0.000512821 -0.91 0 -1.12 DLK1 47971 Variant T ccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcatt AAGCGTGAAGAT CGACGCGGTCTCTCTCTccaccgtgcccagcccctgcgatattttgatacaagcatacaatgtgtgaTgatcaaatcgggatatttaggacctccatcacttcagacatgtatcattAGAGGGAGACGGACGTCTCAATAAaagcgtgaagatAGATCGAGACCCGACGC chr14:101241136-Variant-T;Patient-85 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative C agagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga AACTTCGTCGCG CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAaacttcgtcgcgAGATCGAGACCCGACGC chr14:102171966-Alternative-C;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Reference A agagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CAACTGGTAAGA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAcaactggtaagaAGATCGAGACCCGACGC chr14:102171966-Reference-A;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative T agagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga AGGCAATTGCAT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAaggcaattgcatAGATCGAGACCCGACGC chr14:102171966-Alternative-T;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative T agagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CGGTATACGCGA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAcggtatacgcgaAGATCGAGACCCGACGC chr14:102171966-Alternative-T;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Variant G agagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga GAGTAGCTAAGA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAgagtagctaagaAGATCGAGACCCGACGC chr14:102171966-Variant-G;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Variant G agagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CTTATACTCGGT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAActtatactcggtAGATCGAGACCCGACGC chr14:102171966-Variant-G;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Variant G agagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga ACTAACGTGGTT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAactaacgtggttAGATCGAGACCCGACGC chr14:102171966-Variant-G;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative C agagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga GAGTGCCGATCA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAgagtgccgatcaAGATCGAGACCCGACGC chr14:102171966-Alternative-C;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Reference A agagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CAAGCGATCATA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAcaagcgatcataAGATCGAGACCCGACGC chr14:102171966-Reference-A;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Reference A agagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga ATCTGGCACAAT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAatctggcacaatAGATCGAGACCCGACGC chr14:102171966-Reference-A;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative T agagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga ACCTGGATTGAC CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAacctggattgacAGATCGAGACCCGACGC chr14:102171966-Alternative-T;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Variant G agagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga AAGGCTATAGCA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAaaggctatagcaAGATCGAGACCCGACGC chr14:102171966-Variant-G;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative T agagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CATGAGTTGGTT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAcatgagttggttAGATCGAGACCCGACGC chr14:102171966-Alternative-T;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative C agagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga AGATCAGCGATA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAagatcagcgataAGATCGAGACCCGACGC chr14:102171966-Alternative-C;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Reference A agagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CATTGCCGACGA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAcattgccgacgaAGATCGAGACCCGACGC chr14:102171966-Reference-A;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative C agagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga CTATCCGGTTAT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAActatccggttatAGATCGAGACCCGACGC chr14:102171966-Alternative-C;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative C agagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga ACTCCGATCTAC CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccCgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAactccgatctacAGATCGAGACCCGACGC chr14:102171966-Alternative-C;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Reference A agagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga AGGTTGAGGCCT CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccAgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAaggttgaggcctAGATCGAGACCCGACGC chr14:102171966-Reference-A;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Variant G agagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga GTGATACCGGCA CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccGgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAgtgataccggcaAGATCGAGACCCGACGC chr14:102171966-Variant-G;Patient-55 chr14:102171966-AG Inherited Patient-55 intergenic 6.4e-05 0.000513 0.6 10.29 -0.36 PPP2R5C 56168 Alternative T agagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtga ACCTCGGTTCAC CGACGCGGTCTCTCTCTagagattatttgggcatctcatttttccgtggatttggacatttttgtccTgtccccagaggtgacagtgtggcctctatggctgccccgtgctctgtgaAGAGGGAGACGGACGTCTCAATAAacctcggttcacAGATCGAGACCCGACGC chr14:102171966-Alternative-T;Patient-55 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Variant G caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GGTCGCCAGTAT CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAggtcgccagtatAGATCGAGACCCGACGC chr14:102354651-Variant-G;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Reference A caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GCGGACTATATA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAgcggactatataAGATCGAGACCCGACGC chr14:102354651-Reference-A;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Reference A caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGAGTAGTGTGG CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcgagtagtgtggAGATCGAGACCCGACGC chr14:102354651-Reference-A;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative T caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CATCTCTCGTAA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcatctctcgtaaAGATCGAGACCCGACGC chr14:102354651-Alternative-T;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative T caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGCAGTGAATAA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcgcagtgaataaAGATCGAGACCCGACGC chr14:102354651-Alternative-T;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Variant G caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGGCTCGTAAGT CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcggctcgtaagtAGATCGAGACCCGACGC chr14:102354651-Variant-G;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Reference A caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg AGAACGTATGCA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAagaacgtatgcaAGATCGAGACCCGACGC chr14:102354651-Reference-A;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative T caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GCGTTGCGTAAG CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAgcgttgcgtaagAGATCGAGACCCGACGC chr14:102354651-Alternative-T;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative C caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg AGAAGATGGTTC CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAagaagatggttcAGATCGAGACCCGACGC chr14:102354651-Alternative-C;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Reference A caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGGACTCTCTGA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcggactctctgaAGATCGAGACCCGACGC chr14:102354651-Reference-A;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative T caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg AACCGGTTACTA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAaaccggttactaAGATCGAGACCCGACGC chr14:102354651-Alternative-T;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Variant G caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg ACGACTCGCTTC CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAacgactcgcttcAGATCGAGACCCGACGC chr14:102354651-Variant-G;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative C caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GATTCGTAGCAT CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAgattcgtagcatAGATCGAGACCCGACGC chr14:102354651-Alternative-C;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative C caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CATGAGTCGTCG CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcatgagtcgtcgAGATCGAGACCCGACGC chr14:102354651-Alternative-C;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Reference A caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GATCACCACCGT CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtAgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAgatcaccaccgtAGATCGAGACCCGACGC chr14:102354651-Reference-A;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative C caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GGCTAATGTCAA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAggctaatgtcaaAGATCGAGACCCGACGC chr14:102354651-Alternative-C;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Variant G caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg GCGATAGTCGTC CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAgcgatagtcgtcAGATCGAGACCCGACGC chr14:102354651-Variant-G;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative C caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGATCCTATAAG CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtCgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcgatcctataagAGATCGAGACCCGACGC chr14:102354651-Alternative-C;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Variant G caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg AACGAACGCATA CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtGgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAaacgaacgcataAGATCGAGACCCGACGC chr14:102354651-Variant-G;Patient-57 chr14:102354651-AG DeNovo Patient-57 intronic PPP2R5C NA 4.95e-05 -0.04 2.05 -0.97 DYNC1H1 76213 Alternative T caaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcaggg CGTTAACAAGTC CGACGCGGTCTCTCTCTcaaagggagcctgcagggtgagtttcgtaaattaaagcacctctcggtgtTgacacacacagactgacttctgcttggtcacagcttccaagcctcagggAGAGGGAGACGGACGTCTCAATAAcgttaacaagtcAGATCGAGACCCGACGC chr14:102354651-Alternative-T;Patient-57 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative G atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GTACTGATTGGT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgtactgattggtAGATCGAGACCCGACGC chr14:102519554-Alternative-G;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative G atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg ACGACGTTGACT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAacgacgttgactAGATCGAGACCCGACGC chr14:102519554-Alternative-G;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative G atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GATACTGCGGAG CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgatactgcggagAGATCGAGACCCGACGC chr14:102519554-Alternative-G;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Reference T atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg CGTACGGTAGTC CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAcgtacggtagtcAGATCGAGACCCGACGC chr14:102519554-Reference-T;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative G atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg CGATACGTTAGG CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAcgatacgttaggAGATCGAGACCCGACGC chr14:102519554-Alternative-G;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative G atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GATCAGGCCAAC CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacGgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgatcaggccaacAGATCGAGACCCGACGC chr14:102519554-Alternative-G;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Reference T atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg CTATATAAGCGG CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAActatataagcggAGATCGAGACCCGACGC chr14:102519554-Reference-T;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Reference T atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg CTTGTTGGAGCG CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAActtgttggagcgAGATCGAGACCCGACGC chr14:102519554-Reference-T;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative A atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg ACATAGTTGCGT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAacatagttgcgtAGATCGAGACCCGACGC chr14:102519554-Alternative-A;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Reference T atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GTCGGAGGTCTT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgtcggaggtcttAGATCGAGACCCGACGC chr14:102519554-Reference-T;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Variant C atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg AGAGTATGGTCA CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAagagtatggtcaAGATCGAGACCCGACGC chr14:102519554-Variant-C;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Reference T atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg AGCGTTGCCGAT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacTgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAagcgttgccgatAGATCGAGACCCGACGC chr14:102519554-Reference-T;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Variant C atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg ACGTCGTGATTA CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAacgtcgtgattaAGATCGAGACCCGACGC chr14:102519554-Variant-C;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Variant C atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg AGCCTGGAACCT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAagcctggaacctAGATCGAGACCCGACGC chr14:102519554-Variant-C;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative A atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GTCCGTGTAGGT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgtccgtgtaggtAGATCGAGACCCGACGC chr14:102519554-Alternative-A;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative A atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg ACTCGTGCGGAA CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAactcgtgcggaaAGATCGAGACCCGACGC chr14:102519554-Alternative-A;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Variant C atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GATTGTGGATGA CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgattgtggatgaAGATCGAGACCCGACGC chr14:102519554-Variant-C;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative A atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg CATCAATCCGTC CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAcatcaatccgtcAGATCGAGACCCGACGC chr14:102519554-Alternative-A;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Alternative A atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GTGCTATTCGTT CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacAgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgtgctattcgttAGATCGAGACCCGACGC chr14:102519554-Alternative-A;Patient-64 chr14:102519554-TC DeNovo Patient-64 intergenic NA 0.000513 -0.22 0.61 -0.75 DYNC1H1 88688 Variant C atcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctg GCGTGTAGTTCG CGACGCGGTCTCTCTCTatcttgctctgtcgcccaagctggagtgcagtggcgcaatctgggctcacCgcaacctccacctcccggattcaagcgattctcctgcctcagcctcctgAGAGGGAGACGGACGTCTCAATAAgcgtgtagttcgAGATCGAGACCCGACGC chr14:102519554-Variant-C;Patient-64 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative A tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgttt CACAGACTCGAC CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAcacagactcgacAGATCGAGACCCGACGC chr14:102912367-Alternative-A;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative A tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgttt AAGTAACCTACG CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAaagtaacctacgAGATCGAGACCCGACGC chr14:102912367-Alternative-A;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative A tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgttt GATAGAAGGTTC CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgatagaaggttcAGATCGAGACCCGACGC chr14:102912367-Alternative-A;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Variant T tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgttt GACCGTTACGGT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgaccgttacggtAGATCGAGACCCGACGC chr14:102912367-Variant-T;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative A tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgttt AAGGCGAGATAA CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAaaggcgagataaAGATCGAGACCCGACGC chr14:102912367-Alternative-A;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Reference C tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgttt GGCAATCGGAAC CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAggcaatcggaacAGATCGAGACCCGACGC chr14:102912367-Reference-C;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Variant T tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgttt ACAGCATATGCT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAacagcatatgctAGATCGAGACCCGACGC chr14:102912367-Variant-T;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Reference C tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgttt GAGTCTGAGTGG CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgagtctgagtggAGATCGAGACCCGACGC chr14:102912367-Reference-C;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Variant T tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgttt GTCGCTCCAACT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgtcgctccaactAGATCGAGACCCGACGC chr14:102912367-Variant-T;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Reference C tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgttt AGATGGTGGAAC CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAagatggtggaacAGATCGAGACCCGACGC chr14:102912367-Reference-C;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative A tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgttt GTACGCCTCTTA CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaAgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgtacgcctcttaAGATCGAGACCCGACGC chr14:102912367-Alternative-A;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Reference C tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgttt GGACTTAGACGG CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAggacttagacggAGATCGAGACCCGACGC chr14:102912367-Reference-C;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Reference C tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgttt GGCTTGCGATGA CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaCgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAggcttgcgatgaAGATCGAGACCCGACGC chr14:102912367-Reference-C;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative G tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgttt GGTTCAGCTGGT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAggttcagctggtAGATCGAGACCCGACGC chr14:102912367-Alternative-G;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative G tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgttt ACATATTCCGCG CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAacatattccgcgAGATCGAGACCCGACGC chr14:102912367-Alternative-G;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Variant T tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgttt CGTCCGGACATT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAcgtccggacattAGATCGAGACCCGACGC chr14:102912367-Variant-T;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Variant T tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgttt ATCGTCGGATAT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaTgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAatcgtcggatatAGATCGAGACCCGACGC chr14:102912367-Variant-T;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative G tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgttt GTCGCGAATTCG CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAgtcgcgaattcgAGATCGAGACCCGACGC chr14:102912367-Alternative-G;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative G tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgttt ATAGTAGCGTAC CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAAatagtagcgtacAGATCGAGACCCGACGC chr14:102912367-Alternative-G;Patient-71 chr14:102912367-CT DeNovo Patient-71 intronic TECPR2 3.2e-05 0.000148471 0.12 4.56 1.38 TECPR2 83066 Alternative G tctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgttt CTACGCTCTCCT CGACGCGGTCTCTCTCTtctcccgaccttttctgcttccccttttcttacttctctcttttccttaaGgatactagattaaatttaaaatactcacttttttattatttgtttgtttAGAGGGAGACGGACGTCTCAATAActacgctctcctAGATCGAGACCCGACGC chr14:102912367-Alternative-G;Patient-71 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative C atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GGTCGGTCTGAA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAggtcggtctgaaAGATCGAGACCCGACGC chr14:102920416-Alternative-C;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative C atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GACAACGTTGCG CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgacaacgttgcgAGATCGAGACCCGACGC chr14:102920416-Alternative-C;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative T atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct ACCGGTTCCATT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAaccggttccattAGATCGAGACCCGACGC chr14:102920416-Alternative-T;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative C atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct AGCTCGGAATAA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAagctcggaataaAGATCGAGACCCGACGC chr14:102920416-Alternative-C;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative T atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GCGCACTACGTT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgcgcactacgttAGATCGAGACCCGACGC chr14:102920416-Alternative-T;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Reference G atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GTCGCAACATAT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtcgcaacatatAGATCGAGACCCGACGC chr14:102920416-Reference-G;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Variant A atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct ACAGCGTCGGAA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAacagcgtcggaaAGATCGAGACCCGACGC chr14:102920416-Variant-A;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative T atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct CACTTCCAATCA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAcacttccaatcaAGATCGAGACCCGACGC chr14:102920416-Alternative-T;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Reference G atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct ATCGCAGTCGCA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAatcgcagtcgcaAGATCGAGACCCGACGC chr14:102920416-Reference-G;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Variant A atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct AGAGTACCTGTT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAagagtacctgttAGATCGAGACCCGACGC chr14:102920416-Variant-A;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative C atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct CTAATCGTGACA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAActaatcgtgacaAGATCGAGACCCGACGC chr14:102920416-Alternative-C;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Variant A atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct CATCTATGCGAA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAcatctatgcgaaAGATCGAGACCCGACGC chr14:102920416-Variant-A;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative C atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GCAACATCGAAT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgCtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgcaacatcgaatAGATCGAGACCCGACGC chr14:102920416-Alternative-C;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Variant A atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GCACGATGGAGT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgcacgatggagtAGATCGAGACCCGACGC chr14:102920416-Variant-A;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Reference G atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GTTGACCGAAGG CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgttgaccgaaggAGATCGAGACCCGACGC chr14:102920416-Reference-G;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Variant A atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct AGGCTACAAGTT CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgAtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggctacaagttAGATCGAGACCCGACGC chr14:102920416-Variant-A;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Reference G atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct GCGGTGATACAG CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAgcggtgatacagAGATCGAGACCCGACGC chr14:102920416-Reference-G;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Reference G atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct AGGTGTATTGTC CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgGtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggtgtattgtcAGATCGAGACCCGACGC chr14:102920416-Reference-G;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative T atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct CAAGTATCGAAG CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAcaagtatcgaagAGATCGAGACCCGACGC chr14:102920416-Alternative-T;Patient-77 chr14:102920416-GA DeNovo Patient-77 intronic TECPR2 NA 4.95e-05 NA NA NA TECPR2 91115 Alternative T atcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcct AGCGGCTTCTGA CGACGCGGTCTCTCTCTatcccagctacttggttgggaggctgaggcacgagaatcacttgaacttgTtaggcagaggttgcagtgagctgagatccatgccattgcactccagcctAGAGGGAGACGGACGTCTCAATAAagcggcttctgaAGATCGAGACCCGACGC chr14:102920416-Alternative-T;Patient-77 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Reference C aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GATACAGGCGAT CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAgatacaggcgatAGATCGAGACCCGACGC chr14:103439715-Reference-C;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Variant T aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGACTCATCGAG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcgactcatcgagAGATCGAGACCCGACGC chr14:103439715-Variant-T;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Variant T aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GCACGAACTGCT CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAgcacgaactgctAGATCGAGACCCGACGC chr14:103439715-Variant-T;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Variant T aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGGATTCCGGTT CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcggattccggttAGATCGAGACCCGACGC chr14:103439715-Variant-T;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Reference C aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ATCTGGCCGAAG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAatctggccgaagAGATCGAGACCCGACGC chr14:103439715-Reference-C;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative A aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GGTCAGGTACGA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAggtcaggtacgaAGATCGAGACCCGACGC chr14:103439715-Alternative-A;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Variant T aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGGATTGTTCAA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcggattgttcaaAGATCGAGACCCGACGC chr14:103439715-Variant-T;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Reference C aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CTGGTGACTCGA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAActggtgactcgaAGATCGAGACCCGACGC chr14:103439715-Reference-C;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative A aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGAGCTGACATA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcgagctgacataAGATCGAGACCCGACGC chr14:103439715-Alternative-A;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative A aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ATAGCAGTGACA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAatagcagtgacaAGATCGAGACCCGACGC chr14:103439715-Alternative-A;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative A aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GAGAGCTAATCA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAgagagctaatcaAGATCGAGACCCGACGC chr14:103439715-Alternative-A;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Variant T aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ACGTGGTTCCGA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaTgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAacgtggttccgaAGATCGAGACCCGACGC chr14:103439715-Variant-T;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative A aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GATATACTCCGA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaAgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAgatatactccgaAGATCGAGACCCGACGC chr14:103439715-Alternative-A;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative G aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ACAGATTGAAGG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAacagattgaaggAGATCGAGACCCGACGC chr14:103439715-Alternative-G;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Reference C aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc GATAGAGCTACG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAgatagagctacgAGATCGAGACCCGACGC chr14:103439715-Reference-C;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Reference C aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGGAGATATCGG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaCgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcggagatatcggAGATCGAGACCCGACGC chr14:103439715-Reference-C;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative G aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CGATTATACCGG CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAcgattataccggAGATCGAGACCCGACGC chr14:103439715-Alternative-G;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative G aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ACTAATCCGACT CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAactaatccgactAGATCGAGACCCGACGC chr14:103439715-Alternative-G;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative G aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc CTCGTCACCATT CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAActcgtcaccattAGATCGAGACCCGACGC chr14:103439715-Alternative-G;Patient-55 chr14:103439715-CT Inherited Patient-55 intronic CDC42BPB 0.000159 4.95e-05 -0.57 0.05 -3.96 AMN 50721 Alternative G aactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttcc ACGATGTTGTCA CGACGCGGTCTCTCTCTaactacaggttcaagaataacatgtatcaatgaatgtattttagaaaacaGgcatataattgtgttagtaacatgctgacacctgagcataaaagtttccAGAGGGAGACGGACGTCTCAATAAacgatgttgtcaAGATCGAGACCCGACGC chr14:103439715-Alternative-G;Patient-55 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Reference G ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt AGATAGAGAGCA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAagatagagagcaAGATCGAGACCCGACGC chr14:103641426-Reference-G;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Reference G ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt CACGCAATTAGT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAcacgcaattagtAGATCGAGACCCGACGC chr14:103641426-Reference-G;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Reference G ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GCCAGGAACATC CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgccaggaacatcAGATCGAGACCCGACGC chr14:103641426-Reference-G;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Reference G ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GGTTATCAAGCT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAggttatcaagctAGATCGAGACCCGACGC chr14:103641426-Reference-G;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Reference G ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GCGACTCGTGAT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccGaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgcgactcgtgatAGATCGAGACCCGACGC chr14:103641426-Reference-G;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative T ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GTATACGATCGC CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgtatacgatcgcAGATCGAGACCCGACGC chr14:103641426-Alternative-T;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative T ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt AACGTCTATCAG CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAaacgtctatcagAGATCGAGACCCGACGC chr14:103641426-Alternative-T;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Variant A ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt CGAACACACGAA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAcgaacacacgaaAGATCGAGACCCGACGC chr14:103641426-Variant-A;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative C ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt AGTGCCGGTACA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAagtgccggtacaAGATCGAGACCCGACGC chr14:103641426-Alternative-C;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative T ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GATGCATCAGTT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgatgcatcagttAGATCGAGACCCGACGC chr14:103641426-Alternative-T;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative T ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GTCGCATTGCGA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgtcgcattgcgaAGATCGAGACCCGACGC chr14:103641426-Alternative-T;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative C ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt AATCACGCGCGA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAaatcacgcgcgaAGATCGAGACCCGACGC chr14:103641426-Alternative-C;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative T ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GTGGCGTTCTGT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccTaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgtggcgttctgtAGATCGAGACCCGACGC chr14:103641426-Alternative-T;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Variant A ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt CATGCGGCGTAA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAcatgcggcgtaaAGATCGAGACCCGACGC chr14:103641426-Variant-A;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Variant A ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GATGCTAACGTT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgatgctaacgttAGATCGAGACCCGACGC chr14:103641426-Variant-A;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative C ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt AGGTGATAGTAC CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAaggtgatagtacAGATCGAGACCCGACGC chr14:103641426-Alternative-C;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative C ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GACGGTATAGTT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgacggtatagttAGATCGAGACCCGACGC chr14:103641426-Alternative-C;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Variant A ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt CATTAGCTTGCT CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAcattagcttgctAGATCGAGACCCGACGC chr14:103641426-Variant-A;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Variant A ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt ACGGTAGTAGAA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccAaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAacggtagtagaaAGATCGAGACCCGACGC chr14:103641426-Variant-A;Patient-80 chr14:103641426-GA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.43 0.14 -0.24 TNFAIP2 48761 Alternative C ggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgtt GTAACTACCGAA CGACGCGGTCTCTCTCTggaggcaaggaaattctgggcagaagagggcaggtgcccagtgaaggcccCaacctgaagcctggaaccacagcccaaagtgagaacatgcattcctgttAGAGGGAGACGGACGTCTCAATAAgtaactaccgaaAGATCGAGACCCGACGC chr14:103641426-Alternative-C;Patient-80 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative T gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CAGTTCGCATAA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAcagttcgcataaAGATCGAGACCCGACGC chr14:104008163-Alternative-T;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative T gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GCGACCTATCGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgcgacctatcgaAGATCGAGACCCGACGC chr14:104008163-Alternative-T;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Variant A gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AGCGGTCCATAC CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAagcggtccatacAGATCGAGACCCGACGC chr14:104008163-Variant-A;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative T gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GCGCATATCGAC CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgcgcatatcgacAGATCGAGACCCGACGC chr14:104008163-Alternative-T;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Reference G gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AGATGACTTAGG CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAagatgacttaggAGATCGAGACCCGACGC chr14:104008163-Reference-G;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative T gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AAGGCCGCATGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAaaggccgcatgaAGATCGAGACCCGACGC chr14:104008163-Alternative-T;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Reference G gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AGATGGAACAAG CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAagatggaacaagAGATCGAGACCCGACGC chr14:104008163-Reference-G;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative T gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CGTAATATCCGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccTtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAcgtaatatccgaAGATCGAGACCCGACGC chr14:104008163-Alternative-T;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Variant A gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AACACGGCGAAC CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAaacacggcgaacAGATCGAGACCCGACGC chr14:104008163-Variant-A;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Variant A gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GCCGAATTGATA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgccgaattgataAGATCGAGACCCGACGC chr14:104008163-Variant-A;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Reference G gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GTGTAACGCGAG CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgtgtaacgcgagAGATCGAGACCCGACGC chr14:104008163-Reference-G;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Variant A gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GTGCGCTTGTCA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgtgcgcttgtcaAGATCGAGACCCGACGC chr14:104008163-Variant-A;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Reference G gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CGCCTTCGGTAA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAcgccttcggtaaAGATCGAGACCCGACGC chr14:104008163-Reference-G;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Reference G gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggca ATTCGGTATCGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccGtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAattcggtatcgaAGATCGAGACCCGACGC chr14:104008163-Reference-G;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Variant A gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggca ACACGGAACAAT CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccAtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAacacggaacaatAGATCGAGACCCGACGC chr14:104008163-Variant-A;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative C gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggca AATATAGCGGAG CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAaatatagcggagAGATCGAGACCCGACGC chr14:104008163-Alternative-C;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative C gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CTGGCATGAGAT CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAActggcatgagatAGATCGAGACCCGACGC chr14:104008163-Alternative-C;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative C gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CGTCGGAGATGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAcgtcggagatgaAGATCGAGACCCGACGC chr14:104008163-Alternative-C;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative C gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggca GCCTGACTACGA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAAgcctgactacgaAGATCGAGACCCGACGC chr14:104008163-Alternative-C;Patient-22 chr14:104008163-GA Inherited Patient-22 intergenic 0.000767 0.00256 0.06 3.63 -2.71 KLC1 87361 Alternative C gagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggca CTCTCTTAACCA CGACGCGGTCTCTCTCTgagctctgggcccagctggtggccaggaggagggaggctaggaggtcgccCtgcccggtggccttccccacctcacagacggttcttgagcttctgggcaAGAGGGAGACGGACGTCTCAATAActctcttaaccaAGATCGAGACCCGACGC chr14:104008163-Alternative-C;Patient-22 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Variant T ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CGATCGGTTGGT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAcgatcggttggtAGATCGAGACCCGACGC chr14:104180427-Variant-T;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative G ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GCCGTGTGGTAA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgccgtgtggtaaAGATCGAGACCCGACGC chr14:104180427-Alternative-G;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative G ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc ATTGTGGCGTAA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAattgtggcgtaaAGATCGAGACCCGACGC chr14:104180427-Alternative-G;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative G ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CTTGCGAACCTA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAActtgcgaacctaAGATCGAGACCCGACGC chr14:104180427-Alternative-G;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Variant T ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GTCCGTCAGCTA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgtccgtcagctaAGATCGAGACCCGACGC chr14:104180427-Variant-T;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative G ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GTATCGATGACC CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgtatcgatgaccAGATCGAGACCCGACGC chr14:104180427-Alternative-G;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative A ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc AATACTATGGCG CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAaatactatggcgAGATCGAGACCCGACGC chr14:104180427-Alternative-A;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative G ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GCAACCTGTAGA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcGgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgcaacctgtagaAGATCGAGACCCGACGC chr14:104180427-Alternative-G;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Variant T ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GATTATGCTCGA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgattatgctcgaAGATCGAGACCCGACGC chr14:104180427-Variant-T;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative A ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CGATCAGGACGA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAcgatcaggacgaAGATCGAGACCCGACGC chr14:104180427-Alternative-A;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Variant T ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GATGGTGATCCA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAgatggtgatccaAGATCGAGACCCGACGC chr14:104180427-Variant-T;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative A ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CAGGCTCCTGAT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAcaggctcctgatAGATCGAGACCCGACGC chr14:104180427-Alternative-A;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Reference C ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CGCTAGTATGGT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAcgctagtatggtAGATCGAGACCCGACGC chr14:104180427-Reference-C;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Variant T ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc AGGTAGACATGG CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcTgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAaggtagacatggAGATCGAGACCCGACGC chr14:104180427-Variant-T;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative A ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc GGTCTGAGTTCG CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAggtctgagttcgAGATCGAGACCCGACGC chr14:104180427-Alternative-A;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Reference C ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc AGCTCTTATGCT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAagctcttatgctAGATCGAGACCCGACGC chr14:104180427-Reference-C;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Reference C ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc AAGAAGATGCGT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAaagaagatgcgtAGATCGAGACCCGACGC chr14:104180427-Reference-C;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Alternative A ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc ATAGACCGCGCT CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcAgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAatagaccgcgctAGATCGAGACCCGACGC chr14:104180427-Alternative-A;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Reference C ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc AACGTGCGTCCA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAAaacgtgcgtccaAGATCGAGACCCGACGC chr14:104180427-Reference-C;Patient-27 chr14:104180427-CT DeNovo Patient-27 intronic XRCC3 NA 0.000159744 -0.08 1.58 -1 XRCC3 1395 Reference C ctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggcc CTTAAGAGCCTA CGACGCGGTCTCTCTCTctcactctccaggggcccgctccatcccagcagagcaaccggaccctggcCgttctgccactcacctccctgccgtgaatgcaccccatccatggaggccAGAGGGAGACGGACGTCTCAATAActtaagagcctaAGATCGAGACCCGACGC chr14:104180427-Reference-C;Patient-27 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Reference G acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg AAGTCGCTCGAT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAaagtcgctcgatAGATCGAGACCCGACGC chr14:104220004-Reference-G;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative T acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GCATGCTTGTGG CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgcatgcttgtggAGATCGAGACCCGACGC chr14:104220004-Alternative-T;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative A acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg ATCCTGGACGGT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAatcctggacggtAGATCGAGACCCGACGC chr14:104220004-Alternative-A;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative T acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg ACGCTTGTAAGT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAacgcttgtaagtAGATCGAGACCCGACGC chr14:104220004-Alternative-T;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative T acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg AAGGCTAGCACG CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAaaggctagcacgAGATCGAGACCCGACGC chr14:104220004-Alternative-T;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Variant C acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg ATAGGTCGCATT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAataggtcgcattAGATCGAGACCCGACGC chr14:104220004-Variant-C;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Reference G acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GGAGTCCTTGCA CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAggagtccttgcaAGATCGAGACCCGACGC chr14:104220004-Reference-G;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Reference G acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GCCGGATATGCT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgccggatatgctAGATCGAGACCCGACGC chr14:104220004-Reference-G;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Reference G acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GTAGCGGTAGCT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgtagcggtagctAGATCGAGACCCGACGC chr14:104220004-Reference-G;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative A acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg CATAACAGACGA CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAcataacagacgaAGATCGAGACCCGACGC chr14:104220004-Alternative-A;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative A acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg AGTGCTACCTAT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAagtgctacctatAGATCGAGACCCGACGC chr14:104220004-Alternative-A;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative A acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GATTCGTTCGCG CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgattcgttcgcgAGATCGAGACCCGACGC chr14:104220004-Alternative-A;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Reference G acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GCCAGAACGTCT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgGagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgccagaacgtctAGATCGAGACCCGACGC chr14:104220004-Reference-G;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Variant C acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GCAAGCCGTAGT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgcaagccgtagtAGATCGAGACCCGACGC chr14:104220004-Variant-C;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative A acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg ACGCCACTATCG CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgAagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAacgccactatcgAGATCGAGACCCGACGC chr14:104220004-Alternative-A;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Variant C acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GGCGGATGTAAC CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAggcggatgtaacAGATCGAGACCCGACGC chr14:104220004-Variant-C;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative T acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg AGAACGTCCGAA CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAagaacgtccgaaAGATCGAGACCCGACGC chr14:104220004-Alternative-T;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Variant C acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg GCGTACGAGCAT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAgcgtacgagcatAGATCGAGACCCGACGC chr14:104220004-Variant-C;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Variant C acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg CACAACCGCATT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgCagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAcacaaccgcattAGATCGAGACCCGACGC chr14:104220004-Variant-C;Patient-87 chr14:104220004-GC DeNovo Patient-87 intronic PPP1R13B NA 4.95e-05 -0.01 2.48 -0.04 XRCC3 38180 Alternative T acaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagagg CACGTTCCGGAT CGACGCGGTCTCTCTCTacaagttaagttattcaagaaaaacagaccctctgaatgagtaagtcttgTagcgccccaccctaatccaaagggccgctggtaccaacgtaacaagaggAGAGGGAGACGGACGTCTCAATAAcacgttccggatAGATCGAGACCCGACGC chr14:104220004-Alternative-T;Patient-87 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Reference G tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc GTATTACGGCGC CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAgtattacggcgcAGATCGAGACCCGACGC chr14:104622991-Reference-G;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative C tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AGTGAACGAATC CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAagtgaacgaatcAGATCGAGACCCGACGC chr14:104622991-Alternative-C;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Reference G tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc GAATCATAACGC CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAgaatcataacgcAGATCGAGACCCGACGC chr14:104622991-Reference-G;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Reference G tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc GACGAGCTGTTC CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAgacgagctgttcAGATCGAGACCCGACGC chr14:104622991-Reference-G;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Reference G tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AACGTGTAATCG CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaacgtgtaatcgAGATCGAGACCCGACGC chr14:104622991-Reference-G;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Variant T tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AGGTAGCCGTAC CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaggtagccgtacAGATCGAGACCCGACGC chr14:104622991-Variant-T;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative C tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CTACAAGGTCGG CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAActacaaggtcggAGATCGAGACCCGACGC chr14:104622991-Alternative-C;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Reference G tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CACAGCTTCCGT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgGtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAcacagcttccgtAGATCGAGACCCGACGC chr14:104622991-Reference-G;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative C tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AATCGAGATGAG CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaatcgagatgagAGATCGAGACCCGACGC chr14:104622991-Alternative-C;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative A tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AGGTACATAGGT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaggtacataggtAGATCGAGACCCGACGC chr14:104622991-Alternative-A;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative A tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc GTACTAAGAGCA CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAgtactaagagcaAGATCGAGACCCGACGC chr14:104622991-Alternative-A;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Variant T tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CTTGGTCAACTT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAActtggtcaacttAGATCGAGACCCGACGC chr14:104622991-Variant-T;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative C tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AGGAACACCAAT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaggaacaccaatAGATCGAGACCCGACGC chr14:104622991-Alternative-C;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative A tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AGTCGGCGTCTA CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAagtcggcgtctaAGATCGAGACCCGACGC chr14:104622991-Alternative-A;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative C tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CGCGGAATAAGT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgCtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAcgcggaataagtAGATCGAGACCCGACGC chr14:104622991-Alternative-C;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Variant T tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc GACCGTAGCAAG CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAgaccgtagcaagAGATCGAGACCCGACGC chr14:104622991-Variant-T;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative A tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CATGTCGTACTT CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAcatgtcgtacttAGATCGAGACCCGACGC chr14:104622991-Alternative-A;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Alternative A tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AATCGGAGGTCG CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgAtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaatcggaggtcgAGATCGAGACCCGACGC chr14:104622991-Alternative-A;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Variant T tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc CGCATCGTTCGA CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAcgcatcgttcgaAGATCGAGACCCGACGC chr14:104622991-Variant-T;Patient-22 chr14:104622991-GT Inherited Patient-22 intronic KIF26A 0.000159 9.9e-05 0.02 2.98 0.54 KIF26A 17930 Variant T tgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtccc AAGTTCGTACCA CGACGCGGTCTCTCTCTtgggcagggtgagccggccatgggttgggcagggtgagccctccatggtgTtgaggagggatactgtctgggatggcagggcctctgtctggagtgtcccAGAGGGAGACGGACGTCTCAATAAaagttcgtaccaAGATCGAGACCCGACGC chr14:104622991-Variant-T;Patient-22 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Reference G gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag ACGCTCGGCATA CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAacgctcggcataAGATCGAGACCCGACGC chr14:105278672-Reference-G;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Reference G gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GGTAATCTAGCG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAggtaatctagcgAGATCGAGACCCGACGC chr14:105278672-Reference-G;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Reference G gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GTTCATATCAGG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgttcatatcaggAGATCGAGACCCGACGC chr14:105278672-Reference-G;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative T gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag ACGACGTTCAAT CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAacgacgttcaatAGATCGAGACCCGACGC chr14:105278672-Alternative-T;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative T gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CACGCTAAGAAG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcacgctaagaagAGATCGAGACCCGACGC chr14:105278672-Alternative-T;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Reference G gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CAGATGTTCACG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcagatgttcacgAGATCGAGACCCGACGC chr14:105278672-Reference-G;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Variant A gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CGGATAGCGCTA CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcggatagcgctaAGATCGAGACCCGACGC chr14:105278672-Variant-A;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Variant A gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GTCGATAACGAC CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgtcgataacgacAGATCGAGACCCGACGC chr14:105278672-Variant-A;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Variant A gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GTTGTAGGTTCA CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgttgtaggttcaAGATCGAGACCCGACGC chr14:105278672-Variant-A;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Reference G gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CGGCAACGTCTA CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacGgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcggcaacgtctaAGATCGAGACCCGACGC chr14:105278672-Reference-G;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Variant A gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GTCGGCTTGGAA CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgtcggcttggaaAGATCGAGACCCGACGC chr14:105278672-Variant-A;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Variant A gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GTACACCTACGG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacAgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgtacacctacggAGATCGAGACCCGACGC chr14:105278672-Variant-A;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative T gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag ACCTGATTCTGT CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAacctgattctgtAGATCGAGACCCGACGC chr14:105278672-Alternative-T;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative T gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag AACGATAACACG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAaacgataacacgAGATCGAGACCCGACGC chr14:105278672-Alternative-T;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative T gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag ATCAACCGGATT CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacTgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAatcaaccggattAGATCGAGACCCGACGC chr14:105278672-Alternative-T;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative C gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag AATGGACGTAAC CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAaatggacgtaacAGATCGAGACCCGACGC chr14:105278672-Alternative-C;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative C gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CTTGTACTATCG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAActtgtactatcgAGATCGAGACCCGACGC chr14:105278672-Alternative-C;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative C gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CGTAGTAGTAAG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcgtagtagtaagAGATCGAGACCCGACGC chr14:105278672-Alternative-C;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative C gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag GCAGTCATGGAG CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAgcagtcatggagAGATCGAGACCCGACGC chr14:105278672-Alternative-C;Patient-76 chr14:105278672-GA Inherited Patient-76 intergenic NA 0.000513 -0.09 1.46 0 AKT1 16591 Alternative C gctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcag CGATGCGACGTT CGACGCGGTCTCTCTCTgctgcaagattgcccactggtgagtcctcgcagaggcagaactcatccacCgcagaaaaagaggggaccagcagctgcctcagggcaagatcatgagcagAGAGGGAGACGGACGTCTCAATAAcgatgcgacgttAGATCGAGACCCGACGC chr14:105278672-Alternative-C;Patient-76 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Variant G gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta CTATGCCATACT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAActatgccatactAGATCGAGACCCGACGC chr14:105295580-Variant-G;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Reference T gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta AGGACGAACGAT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAaggacgaacgatAGATCGAGACCCGACGC chr14:105295580-Reference-T;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Reference T gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta AGAGTGTTGCGG CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAagagtgttgcggAGATCGAGACCCGACGC chr14:105295580-Reference-T;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Reference T gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta CTGAGACTGTCG CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAActgagactgtcgAGATCGAGACCCGACGC chr14:105295580-Reference-T;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Reference T gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta CGCTACTCTGAC CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAcgctactctgacAGATCGAGACCCGACGC chr14:105295580-Reference-T;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative C gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta AACTCACAACGG CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAaactcacaacggAGATCGAGACCCGACGC chr14:105295580-Alternative-C;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative A gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GCATGATATGAG CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgcatgatatgagAGATCGAGACCCGACGC chr14:105295580-Alternative-A;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Reference T gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GTAGGTGATAGT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctTgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgtaggtgatagtAGATCGAGACCCGACGC chr14:105295580-Reference-T;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Variant G gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GTATACGGTGTT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgtatacggtgttAGATCGAGACCCGACGC chr14:105295580-Variant-G;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative C gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta ATAAGTACGTGG CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAataagtacgtggAGATCGAGACCCGACGC chr14:105295580-Alternative-C;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Variant G gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta AGCTCTCGGCTT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAagctctcggcttAGATCGAGACCCGACGC chr14:105295580-Variant-G;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Variant G gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GCCAACAACGAC CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgccaacaacgacAGATCGAGACCCGACGC chr14:105295580-Variant-G;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Variant G gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta CGCGGAAGTACT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctGgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAcgcggaagtactAGATCGAGACCCGACGC chr14:105295580-Variant-G;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative C gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GCATCTTACCGC CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgcatcttaccgcAGATCGAGACCCGACGC chr14:105295580-Alternative-C;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative C gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta CGATCGCCTGAA CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAcgatcgcctgaaAGATCGAGACCCGACGC chr14:105295580-Alternative-C;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative A gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta GTCGGCGTAAGT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAgtcggcgtaagtAGATCGAGACCCGACGC chr14:105295580-Alternative-A;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative A gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta ACTTGATCACGA CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAacttgatcacgaAGATCGAGACCCGACGC chr14:105295580-Alternative-A;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative A gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta ACTCGTTCAGAA CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAactcgttcagaaAGATCGAGACCCGACGC chr14:105295580-Alternative-A;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative C gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta ACTACCAACGAC CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctCgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAactaccaacgacAGATCGAGACCCGACGC chr14:105295580-Alternative-C;Patient-58 chr14:105295580-TG DeNovo Patient-58 intergenic 0.000255 0.00256 -0.01 2.51 0 AKT1 33499 Alternative A gggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagta AAGTTCGTACGT CGACGCGGTCTCTCTCTgggcacagcaagagggtgtaatccctcccagacaccacatctgctggcctAgacctaggacttccccgcccctaaaactgtgaggaatacatttttagtaAGAGGGAGACGGACGTCTCAATAAaagttcgtacgtAGATCGAGACCCGACGC chr14:105295580-Alternative-A;Patient-58 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative A ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc CTAGTGGTTGAT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAActagtggttgatAGATCGAGACCCGACGC chr14:105499916-Alternative-A;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Reference C ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AATAGATGGTCG CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAaatagatggtcgAGATCGAGACCCGACGC chr14:105499916-Reference-C;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative A ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc CAGATTGTACGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAcagattgtacgtAGATCGAGACCCGACGC chr14:105499916-Alternative-A;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Reference C ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AACGACGTGGAC CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAaacgacgtggacAGATCGAGACCCGACGC chr14:105499916-Reference-C;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative A ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AACTCGGTAGCT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAaactcggtagctAGATCGAGACCCGACGC chr14:105499916-Alternative-A;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Reference C ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc CATCTACGGTAA CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAcatctacggtaaAGATCGAGACCCGACGC chr14:105499916-Reference-C;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Reference C ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc CGATACCAAGAA CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAcgataccaagaaAGATCGAGACCCGACGC chr14:105499916-Reference-C;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Variant G ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GACATATTCCGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgacatattccgtAGATCGAGACCCGACGC chr14:105499916-Variant-G;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative A ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AGCCGTGAAGTC CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAagccgtgaagtcAGATCGAGACCCGACGC chr14:105499916-Alternative-A;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Variant G ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc CGGTCATGGTTC CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAcggtcatggttcAGATCGAGACCCGACGC chr14:105499916-Variant-G;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Reference C ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AGCTGCGATCGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccCgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAagctgcgatcgtAGATCGAGACCCGACGC chr14:105499916-Reference-C;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative A ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GCGTCATGATAT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccAgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgcgtcatgatatAGATCGAGACCCGACGC chr14:105499916-Alternative-A;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative T ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AATGGTGGTAAC CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAaatggtggtaacAGATCGAGACCCGACGC chr14:105499916-Alternative-T;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative T ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GTTGGATGTTGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgttggatgttgtAGATCGAGACCCGACGC chr14:105499916-Alternative-T;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative T ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AGTGCGATGCGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAagtgcgatgcgtAGATCGAGACCCGACGC chr14:105499916-Alternative-T;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative T ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GTAGTGCGCATC CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgtagtgcgcatcAGATCGAGACCCGACGC chr14:105499916-Alternative-T;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Variant G ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GCGTGGAATCCT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgcgtggaatcctAGATCGAGACCCGACGC chr14:105499916-Variant-G;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Alternative T ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc AGTGCGCTTGCT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccTgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAagtgcgcttgctAGATCGAGACCCGACGC chr14:105499916-Alternative-T;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Variant G ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc GATGGAAGGTGT CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAgatggaaggtgtAGATCGAGACCCGACGC chr14:105499916-Variant-G;Patient-27 chr14:105499916-CG DeNovo Patient-27 intergenic 0.000396 0.0687 -0.2 0.69 -0.51 GPR132 31970 Variant G ggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttcc ATCTGACGTCAA CGACGCGGTCTCTCTCTggtttccgcgttcgctccccgtcaggctctcggtttccgcgttcgctcccGgtcaggctctcggtttccgcgttcgctcccggtcgcgctctcggtttccAGAGGGAGACGGACGTCTCAATAAatctgacgtcaaAGATCGAGACCCGACGC chr14:105499916-Variant-G;Patient-27 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative G acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GCATACGCGAGA CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgcatacgcgagaAGATCGAGACCCGACGC chr14:105799291-Alternative-G;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative G acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GCATGCAGCCTA CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgcatgcagcctaAGATCGAGACCCGACGC chr14:105799291-Alternative-G;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative G acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt ACCATGCGCATC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAaccatgcgcatcAGATCGAGACCCGACGC chr14:105799291-Alternative-G;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative G acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt ACGAATCCGAAG CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAacgaatccgaagAGATCGAGACCCGACGC chr14:105799291-Alternative-G;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Variant T acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GTGCTAACGCGT CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgtgctaacgcgtAGATCGAGACCCGACGC chr14:105799291-Variant-T;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Reference C acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt AACTACCAACGT CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAaactaccaacgtAGATCGAGACCCGACGC chr14:105799291-Reference-C;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Variant T acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GACGAATGCGAC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgacgaatgcgacAGATCGAGACCCGACGC chr14:105799291-Variant-T;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Variant T acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt CTCGGCGTTAGT CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAActcggcgttagtAGATCGAGACCCGACGC chr14:105799291-Variant-T;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative G acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GATTCCAAGACG CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgGccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgattccaagacgAGATCGAGACCCGACGC chr14:105799291-Alternative-G;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Variant T acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GCCTTATAGCTA CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgccttatagctaAGATCGAGACCCGACGC chr14:105799291-Variant-T;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Reference C acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt AAGTAACTCGCG CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAaagtaactcgcgAGATCGAGACCCGACGC chr14:105799291-Reference-C;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Reference C acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt CATGTGATAGTC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAcatgtgatagtcAGATCGAGACCCGACGC chr14:105799291-Reference-C;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative A acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt AGCTGTGCATGC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAagctgtgcatgcAGATCGAGACCCGACGC chr14:105799291-Alternative-A;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative A acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt ATACGCGGTATA CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAatacgcggtataAGATCGAGACCCGACGC chr14:105799291-Alternative-A;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative A acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt ATTCGTAATCGG CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAattcgtaatcggAGATCGAGACCCGACGC chr14:105799291-Alternative-A;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Reference C acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GACGCCGCTAAT CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAgacgccgctaatAGATCGAGACCCGACGC chr14:105799291-Reference-C;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Variant T acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt CTCACGAACCGA CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgTccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAActcacgaaccgaAGATCGAGACCCGACGC chr14:105799291-Variant-T;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Reference C acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt AGATAGGTAGTC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgCccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAagataggtagtcAGATCGAGACCCGACGC chr14:105799291-Reference-C;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative A acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt AGGTACACGGAC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAaggtacacggacAGATCGAGACCCGACGC chr14:105799291-Alternative-A;Patient-78 chr14:105799291-CT DeNovo Patient-78 intronic PACS2 NA 4.95e-05 0.01 2.76 0.62 PACS2 32120 Alternative A acagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgt GGAACTACGTTC CGACGCGGTCTCTCTCTacagtctcatgcccccaccgccatcgtccccccacttttttgtgggggtgAccaatctgtgctctgccccctccccaggctccgctcctgtgggctgcgtAGAGGGAGACGGACGTCTCAATAAggaactacgttcAGATCGAGACCCGACGC chr14:105799291-Alternative-A;Patient-78 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Variant T tcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctg CAACGGAACATT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAcaacggaacattAGATCGAGACCCGACGC chr14:105884885-Variant-T;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative G tcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctg AGTCGTATTACG CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAagtcgtattacgAGATCGAGACCCGACGC chr14:105884885-Alternative-G;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Variant T tcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctg CGAAGGTTACAC CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAcgaaggttacacAGATCGAGACCCGACGC chr14:105884885-Variant-T;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative A tcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctg AACTCTCGCGAG CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAaactctcgcgagAGATCGAGACCCGACGC chr14:105884885-Alternative-A;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative A tcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctg ACAACGGCACCA CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAacaacggcaccaAGATCGAGACCCGACGC chr14:105884885-Alternative-A;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative A tcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctg CATAGATACGAG CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAcatagatacgagAGATCGAGACCCGACGC chr14:105884885-Alternative-A;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative G tcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctg CGTAAGCAAGTT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAcgtaagcaagttAGATCGAGACCCGACGC chr14:105884885-Alternative-G;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Variant T tcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctg AGTACCGTTGCG CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAagtaccgttgcgAGATCGAGACCCGACGC chr14:105884885-Variant-T;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative G tcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GATATCGCATTC CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgatatcgcattcAGATCGAGACCCGACGC chr14:105884885-Alternative-G;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Reference C tcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GAATTAGGCGAT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgaattaggcgatAGATCGAGACCCGACGC chr14:105884885-Reference-C;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Variant T tcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GAAGTTGGTCGC CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgaagttggtcgcAGATCGAGACCCGACGC chr14:105884885-Variant-T;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Reference C tcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GGCTGTACTATA CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAggctgtactataAGATCGAGACCCGACGC chr14:105884885-Reference-C;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Reference C tcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GCGCATCTTATA CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgcgcatcttataAGATCGAGACCCGACGC chr14:105884885-Reference-C;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Variant T tcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctg AAGGCCGCTTGT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctTgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAaaggccgcttgtAGATCGAGACCCGACGC chr14:105884885-Variant-T;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative A tcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GGCGCGTAACAT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAggcgcgtaacatAGATCGAGACCCGACGC chr14:105884885-Alternative-A;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative A tcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GCGATGTTAGAA CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctAgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgcgatgttagaaAGATCGAGACCCGACGC chr14:105884885-Alternative-A;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Reference C tcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctg ACGAGTCATTCA CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAacgagtcattcaAGATCGAGACCCGACGC chr14:105884885-Reference-C;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Reference C tcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctg ACGGCAAGTACT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctCgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAacggcaagtactAGATCGAGACCCGACGC chr14:105884885-Reference-C;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative G tcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GATCGCCTATGG CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgatcgcctatggAGATCGAGACCCGACGC chr14:105884885-Alternative-G;Patient-71 chr14:105884885-CT DeNovo Patient-71 intergenic 3.2e-05 0.00032 -0.37 0.23 -0.93 MTA1 1273 Alternative G tcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctg GACATTACTCCT CGACGCGGTCTCTCTCTtcctgggacccatagccctctctccccagagacagcaccgccctgcagctGgggttcctggccctgtgctaaccctggtggggctttccttactggtctgAGAGGGAGACGGACGTCTCAATAAgacattactcctAGATCGAGACCCGACGC chr14:105884885-Alternative-G;Patient-71 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative G gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CAGACAACAACA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcagacaacaacaAGATCGAGACCCGACGC chr14:105917088-Alternative-G;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative G gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc ACGGCTTACCGA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAacggcttaccgaAGATCGAGACCCGACGC chr14:105917088-Alternative-G;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Reference T gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GCACGACAACTA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAgcacgacaactaAGATCGAGACCCGACGC chr14:105917088-Reference-T;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative G gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GGATCGATGAGT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAggatcgatgagtAGATCGAGACCCGACGC chr14:105917088-Alternative-G;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Reference T gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc ATTATCGAACCG CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAattatcgaaccgAGATCGAGACCCGACGC chr14:105917088-Reference-T;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative G gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc ATAGTCTCGTCA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAatagtctcgtcaAGATCGAGACCCGACGC chr14:105917088-Alternative-G;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Reference T gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GGTTAGACTGGT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAggttagactggtAGATCGAGACCCGACGC chr14:105917088-Reference-T;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Reference T gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GTGGCGTAGTGT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAgtggcgtagtgtAGATCGAGACCCGACGC chr14:105917088-Reference-T;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Reference T gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CGCAGTAAGGAC CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaTctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcgcagtaaggacAGATCGAGACCCGACGC chr14:105917088-Reference-T;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative A gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GTGGCTAATAAC CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAgtggctaataacAGATCGAGACCCGACGC chr14:105917088-Alternative-A;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative G gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc AAGGCGTGACGA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaGctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAaaggcgtgacgaAGATCGAGACCCGACGC chr14:105917088-Alternative-G;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative A gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CGTAACGGACGA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcgtaacggacgaAGATCGAGACCCGACGC chr14:105917088-Alternative-A;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Variant C gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CGTCAACTTAAG CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcgtcaacttaagAGATCGAGACCCGACGC chr14:105917088-Variant-C;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative A gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CATGCGATACTA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcatgcgatactaAGATCGAGACCCGACGC chr14:105917088-Alternative-A;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative A gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GGTGTTGAACTT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAggtgttgaacttAGATCGAGACCCGACGC chr14:105917088-Alternative-A;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Alternative A gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc AGACGCTACGAA CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaActgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAagacgctacgaaAGATCGAGACCCGACGC chr14:105917088-Alternative-A;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Variant C gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc CAACAGTTGGTT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAcaacagttggttAGATCGAGACCCGACGC chr14:105917088-Variant-C;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Variant C gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GGCTTGATCACG CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAggcttgatcacgAGATCGAGACCCGACGC chr14:105917088-Variant-C;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Variant C gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc GTTATCGAAGTC CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAgttatcgaagtcAGATCGAGACCCGACGC chr14:105917088-Variant-C;Patient-69 chr14:105917088-TC DeNovo Patient-69 intronic MTA1 0.000223 9.9e-05 0.06 3.6 -1.01 MTA1 30928 Variant C gcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatccc AGTCAGCCGCTT CGACGCGGTCTCTCTCTgcccaccttgggggtcactgtgattatacggtgttaccaggtgattcttaCctgggggtcacctgtgattatacggtgttaacctgccgtatagcatcccAGAGGGAGACGGACGTCTCAATAAagtcagccgcttAGATCGAGACCCGACGC chr14:105917088-Variant-C;Patient-69 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative A tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt ATAGTACGCGCG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAatagtacgcgcgAGATCGAGACCCGACGC chr14:20792721-Alternative-A;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative A tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CGCATACCAACA CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAcgcataccaacaAGATCGAGACCCGACGC chr14:20792721-Alternative-A;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative G tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CACTTAGGTAAC CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAcacttaggtaacAGATCGAGACCCGACGC chr14:20792721-Alternative-G;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative A tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GGTCGATAGTAC CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAggtcgatagtacAGATCGAGACCCGACGC chr14:20792721-Alternative-A;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Reference C tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GGCTATACGTCG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAggctatacgtcgAGATCGAGACCCGACGC chr14:20792721-Reference-C;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative A tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CGAGCTCAGTGT CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAcgagctcagtgtAGATCGAGACCCGACGC chr14:20792721-Alternative-A;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative A tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GTAAGAGCTCGG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataAgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAgtaagagctcggAGATCGAGACCCGACGC chr14:20792721-Alternative-A;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Variant T tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CGAACACGGTTC CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAcgaacacggttcAGATCGAGACCCGACGC chr14:20792721-Variant-T;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative G tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GACGGCTTCTAA CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAgacggcttctaaAGATCGAGACCCGACGC chr14:20792721-Alternative-G;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Reference C tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GATCCTACTTCG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAgatcctacttcgAGATCGAGACCCGACGC chr14:20792721-Reference-C;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Variant T tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GGTAACTAACCG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAggtaactaaccgAGATCGAGACCCGACGC chr14:20792721-Variant-T;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Reference C tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CTACACCTAACT CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAActacacctaactAGATCGAGACCCGACGC chr14:20792721-Reference-C;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative G tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GTGTCTGGCGAA CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAgtgtctggcgaaAGATCGAGACCCGACGC chr14:20792721-Alternative-G;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Variant T tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt GTTCCGTAGCCA CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAgttccgtagccaAGATCGAGACCCGACGC chr14:20792721-Variant-T;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative G tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt ACACCGTACACT CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAacaccgtacactAGATCGAGACCCGACGC chr14:20792721-Alternative-G;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Variant T tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CTCGCAATGTGC CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAActcgcaatgtgcAGATCGAGACCCGACGC chr14:20792721-Variant-T;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Reference C tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt AATAGCGACAAC CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAaatagcgacaacAGATCGAGACCCGACGC chr14:20792721-Reference-C;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Reference C tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt ACACGTTAACCG CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataCgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAacacgttaaccgAGATCGAGACCCGACGC chr14:20792721-Reference-C;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Alternative G tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt CTCGGCTTGGAT CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataGgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAActcggcttggatAGATCGAGACCCGACGC chr14:20792721-Alternative-G;Patient-89 chr14:20792721-CT Inherited Patient-89 intronic CCNB1IP1 NA 0.00016 -0.23 0.57 0.19 CCNB1IP1 8749 Variant T tatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgt AGCATGAAGACT CGACGCGGTCTCTCTCTtatgcagatgtcaaaaattgccaggtagtacagaatctaagagaaatataTgcatggattctgatgacaaatagttaacatcaaactgagcatttaccgtAGAGGGAGACGGACGTCTCAATAAagcatgaagactAGATCGAGACCCGACGC chr14:20792721-Variant-T;Patient-89 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Variant G cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagta AGAACCTTACGG CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAagaaccttacggAGATCGAGACCCGACGC chr14:20816428-Variant-G;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Variant G cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagta CACAATCCTCAA CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAcacaatcctcaaAGATCGAGACCCGACGC chr14:20816428-Variant-G;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Variant G cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagta AACGATACCGCG CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAaacgataccgcgAGATCGAGACCCGACGC chr14:20816428-Variant-G;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Variant G cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagta CTAGTCGGATGC CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAActagtcggatgcAGATCGAGACCCGACGC chr14:20816428-Variant-G;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative T cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagta GTCGTCCGTGTT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAgtcgtccgtgttAGATCGAGACCCGACGC chr14:20816428-Alternative-T;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Variant G cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACGACGGCATGA CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacGacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAacgacggcatgaAGATCGAGACCCGACGC chr14:20816428-Variant-G;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative T cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagta CTCGCTTGTCCT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAActcgcttgtcctAGATCGAGACCCGACGC chr14:20816428-Alternative-T;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative T cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACGTGTTACGGC CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAacgtgttacggcAGATCGAGACCCGACGC chr14:20816428-Alternative-T;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative T cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACTGGTAGCCGA CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAactggtagccgaAGATCGAGACCCGACGC chr14:20816428-Alternative-T;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative T cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagta GATGGTTATCGT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacTacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAgatggttatcgtAGATCGAGACCCGACGC chr14:20816428-Alternative-T;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative A cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACGTATACCACG CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAacgtataccacgAGATCGAGACCCGACGC chr14:20816428-Alternative-A;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Reference C cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagta GTGTAACACGAA CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAgtgtaacacgaaAGATCGAGACCCGACGC chr14:20816428-Reference-C;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Reference C cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagta AGGCCGGTTAAC CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAaggccggttaacAGATCGAGACCCGACGC chr14:20816428-Reference-C;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Reference C cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACAGACGTATGT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAacagacgtatgtAGATCGAGACCCGACGC chr14:20816428-Reference-C;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative A cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagta CACGAGATTCAT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAcacgagattcatAGATCGAGACCCGACGC chr14:20816428-Alternative-A;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Reference C cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagta GGCAAGTGCTTC CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAggcaagtgcttcAGATCGAGACCCGACGC chr14:20816428-Reference-C;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative A cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagta AGTCATTCTGCT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAagtcattctgctAGATCGAGACCCGACGC chr14:20816428-Alternative-A;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Reference C cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagta CTCGCTTCGGTT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacCacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAActcgcttcggttAGATCGAGACCCGACGC chr14:20816428-Reference-C;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative A cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagta GGATAACGAACT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAggataacgaactAGATCGAGACCCGACGC chr14:20816428-Alternative-A;Patient-62 chr14:20816428-CG DeNovo Patient-62 intronic PARP2 NA 4.95e-05 -0.14 1.04 1.1 PARP2 4654 Alternative A cgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagta ACCGTCCGGATT CGACGCGGTCTCTCTCTcgaggaactttatataatatggagaatagccttttgtctgtaatacaaacAacttgtgttttccagatttgtcatttaccttttggttttccttatagtaAGAGGGAGACGGACGTCTCAATAAaccgtccggattAGATCGAGACCCGACGC chr14:20816428-Alternative-A;Patient-62 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative C ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt AGGACGATTCGG CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAaggacgattcggAGATCGAGACCCGACGC chr14:21009121-Alternative-C;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative C ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GAATATCCGGTT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgaatatccggttAGATCGAGACCCGACGC chr14:21009121-Alternative-C;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative T ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GATCAACGCATT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgatcaacgcattAGATCGAGACCCGACGC chr14:21009121-Alternative-T;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Variant A ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt AACTTCGGTACT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAaacttcggtactAGATCGAGACCCGACGC chr14:21009121-Variant-A;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative T ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GATAATTGCGTC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgataattgcgtcAGATCGAGACCCGACGC chr14:21009121-Alternative-T;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative C ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CGAGGCATTGAG CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAcgaggcattgagAGATCGAGACCCGACGC chr14:21009121-Alternative-C;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Variant A ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CAACTAGTGAAC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAcaactagtgaacAGATCGAGACCCGACGC chr14:21009121-Variant-A;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative C ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GAATAACGCCGC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgaataacgccgcAGATCGAGACCCGACGC chr14:21009121-Alternative-C;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative T ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt ATCGCAGCGTCT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAatcgcagcgtctAGATCGAGACCCGACGC chr14:21009121-Alternative-T;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative C ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CTATCATACGAG CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacCacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAActatcatacgagAGATCGAGACCCGACGC chr14:21009121-Alternative-C;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative T ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GTTCGTAACCGC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgttcgtaaccgcAGATCGAGACCCGACGC chr14:21009121-Alternative-T;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Variant A ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CACTAGTGCGAG CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAcactagtgcgagAGATCGAGACCCGACGC chr14:21009121-Variant-A;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Reference G ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt ACGAAGCAACAC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAacgaagcaacacAGATCGAGACCCGACGC chr14:21009121-Reference-G;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Variant A ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CATAGTGCGCGA CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAcatagtgcgcgaAGATCGAGACCCGACGC chr14:21009121-Variant-A;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Variant A ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GGCGAATGTGGT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacAacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAggcgaatgtggtAGATCGAGACCCGACGC chr14:21009121-Variant-A;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Alternative T ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CGGCCGTCATAT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacTacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAcggccgtcatatAGATCGAGACCCGACGC chr14:21009121-Alternative-T;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Reference G ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GCGTAGTCGTTC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgcgtagtcgttcAGATCGAGACCCGACGC chr14:21009121-Reference-G;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Reference G ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GACGAGCCAATC CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAgacgagccaatcAGATCGAGACCCGACGC chr14:21009121-Reference-G;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Reference G ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt CTGCATTAGCAA CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAActgcattagcaaAGATCGAGACCCGACGC chr14:21009121-Reference-G;Patient-66 chr14:21009121-GA DeNovo Patient-66 intergenic 0.000231 0.000512821 -0.29 0.38 -0.7 PNP 71582 Reference G ggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgtt GGCAGTTCCAGT CGACGCGGTCTCTCTCTggcggagtttgcggtgagccgagatcgtgccactgtactccagcctggacGacagaatgaggctccatctcaaaaaaaaaaaaaaaaaaaaagagttgttAGAGGGAGACGGACGTCTCAATAAggcagttccagtAGATCGAGACCCGACGC chr14:21009121-Reference-G;Patient-66 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Variant G acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac AGTTGGCAGTAA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAagttggcagtaaAGATCGAGACCCGACGC chr14:21422676-Variant-G;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Variant G acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GTAGTAGTGACA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgtagtagtgacaAGATCGAGACCCGACGC chr14:21422676-Variant-G;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Variant G acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac CGCACCGAAGAA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAcgcaccgaagaaAGATCGAGACCCGACGC chr14:21422676-Variant-G;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Variant G acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GCAACCTGAACA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgcaacctgaacaAGATCGAGACCCGACGC chr14:21422676-Variant-G;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Variant G acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac ACACAACTAACC CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcGgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAacacaactaaccAGATCGAGACCCGACGC chr14:21422676-Variant-G;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Reference T acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac CATATGCCAAGA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAcatatgccaagaAGATCGAGACCCGACGC chr14:21422676-Reference-T;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Reference T acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac CTCGCCTACCAT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAActcgcctaccatAGATCGAGACCCGACGC chr14:21422676-Reference-T;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative A acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac AGTCCGGCTAAG CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAagtccggctaagAGATCGAGACCCGACGC chr14:21422676-Alternative-A;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative A acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GTTGGAATTCCA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgttggaattccaAGATCGAGACCCGACGC chr14:21422676-Alternative-A;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative C acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GAAGTTGTGGAT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgaagttgtggatAGATCGAGACCCGACGC chr14:21422676-Alternative-C;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Reference T acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac ACGCGCAATGGT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAacgcgcaatggtAGATCGAGACCCGACGC chr14:21422676-Reference-T;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative C acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac ACTTACCGTCGG CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAacttaccgtcggAGATCGAGACCCGACGC chr14:21422676-Alternative-C;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Reference T acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac CGAGATGGCATT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAcgagatggcattAGATCGAGACCCGACGC chr14:21422676-Reference-T;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative A acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac CATTGGAGGTCG CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAcattggaggtcgAGATCGAGACCCGACGC chr14:21422676-Alternative-A;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative C acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GGAACCTAACGG CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAggaacctaacggAGATCGAGACCCGACGC chr14:21422676-Alternative-C;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Reference T acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac ACGCTTAGAGAA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcTgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAacgcttagagaaAGATCGAGACCCGACGC chr14:21422676-Reference-T;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative C acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GCCGAACAGACT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgccgaacagactAGATCGAGACCCGACGC chr14:21422676-Alternative-C;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative A acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GTCGCCGTTATC CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgtcgccgttatcAGATCGAGACCCGACGC chr14:21422676-Alternative-A;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative C acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac ACCTAGTCACTT CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcCgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAacctagtcacttAGATCGAGACCCGACGC chr14:21422676-Alternative-C;Patient-25 chr14:21422676-TG Inherited Patient-25 intergenic 0.000287 0.000513 -0.01 2.48 0.13 METTL17 35288 Alternative A acacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgac GATAAGACGCTA CGACGCGGTCTCTCTCTacacaagtgtaatacaattatgtgtctacaattactttcctgtatgtctcAgagggccaagaataaatgtatgctttgtgtatcaaactgtacacttgacAGAGGGAGACGGACGTCTCAATAAgataagacgctaAGATCGAGACCCGACGC chr14:21422676-Alternative-A;Patient-25 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative T gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa AGCCTTATAGGT CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAagccttataggtAGATCGAGACCCGACGC chr14:21505008-Alternative-T;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Reference G gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ATCGTTCGCTAT CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAatcgttcgctatAGATCGAGACCCGACGC chr14:21505008-Reference-G;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Reference G gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ACGACATGACGC CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAacgacatgacgcAGATCGAGACCCGACGC chr14:21505008-Reference-G;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative T gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ACTCTTATGTCG CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAactcttatgtcgAGATCGAGACCCGACGC chr14:21505008-Alternative-T;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative A gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CTTGCGTAACGG CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAActtgcgtaacggAGATCGAGACCCGACGC chr14:21505008-Alternative-A;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Variant C gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa AAGTTCATGTCG CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAaagttcatgtcgAGATCGAGACCCGACGC chr14:21505008-Variant-C;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Variant C gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ACCGTGTGGAGA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAaccgtgtggagaAGATCGAGACCCGACGC chr14:21505008-Variant-C;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative A gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CACGAAGGTCAA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAcacgaaggtcaaAGATCGAGACCCGACGC chr14:21505008-Alternative-A;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Variant C gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa GCCGCGAATAAC CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAgccgcgaataacAGATCGAGACCCGACGC chr14:21505008-Variant-C;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Reference G gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ACAAGCAACAAC CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAacaagcaacaacAGATCGAGACCCGACGC chr14:21505008-Reference-G;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Variant C gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa ACCGCTTCTAGA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAaccgcttctagaAGATCGAGACCCGACGC chr14:21505008-Variant-C;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Variant C gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CTAACGATGCGT CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataCagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAActaacgatgcgtAGATCGAGACCCGACGC chr14:21505008-Variant-C;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative A gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa GCGCTACATCAA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAgcgctacatcaaAGATCGAGACCCGACGC chr14:21505008-Alternative-A;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative T gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa GGCGCTTGGTTA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAggcgcttggttaAGATCGAGACCCGACGC chr14:21505008-Alternative-T;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative T gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CGCTTACATCTA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAcgcttacatctaAGATCGAGACCCGACGC chr14:21505008-Alternative-T;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative T gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CGGTATTGTCTT CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataTagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAcggtattgtcttAGATCGAGACCCGACGC chr14:21505008-Alternative-T;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative A gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CGGAATGCAATA CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAcggaatgcaataAGATCGAGACCCGACGC chr14:21505008-Alternative-A;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Alternative A gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa GTACTAACGCAG CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataAagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAgtactaacgcagAGATCGAGACCCGACGC chr14:21505008-Alternative-A;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Reference G gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CTGAGAATCAAG CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAActgagaatcaagAGATCGAGACCCGACGC chr14:21505008-Reference-G;Patient-99 chr14:21505008-GC DeNovo Patient-99 intergenic NA 6.28e-05 -0.06 1.86 1.15 SLC39A2 37593 Reference G gctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaa CGCCGCGATTAT CGACGCGGTCTCTCTCTgctgggaagacctcgccaaggaagtgggcaccgtcaagcaagtgaggataGagcccacatgggcaggtggctcatctgtattcttcaggctgctcaacaaAGAGGGAGACGGACGTCTCAATAAcgccgcgattatAGATCGAGACCCGACGC chr14:21505008-Reference-G;Patient-99 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative A gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcaggg ACATAAGGCTGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAacataaggctgaAGATCGAGACCCGACGC chr14:23192080-Alternative-A;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Variant T gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcaggg GGTACGTCCTGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAggtacgtcctgaAGATCGAGACCCGACGC chr14:23192080-Variant-T;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Variant T gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcaggg AGCCTTATGTGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAagccttatgtgaAGATCGAGACCCGACGC chr14:23192080-Variant-T;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Variant T gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcaggg ACTAACGCAGCT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAactaacgcagctAGATCGAGACCCGACGC chr14:23192080-Variant-T;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative A gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcaggg GAATCGTTACCA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgaatcgttaccaAGATCGAGACCCGACGC chr14:23192080-Alternative-A;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Reference C gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcaggg GCGTAGACGACT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgcgtagacgactAGATCGAGACCCGACGC chr14:23192080-Reference-C;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Variant T gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcaggg AGCAATCGCGCT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAagcaatcgcgctAGATCGAGACCCGACGC chr14:23192080-Variant-T;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative A gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcaggg GTCGAGATATGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgtcgagatatgaAGATCGAGACCCGACGC chr14:23192080-Alternative-A;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative G gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcaggg GCCGACGAGTAA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgccgacgagtaaAGATCGAGACCCGACGC chr14:23192080-Alternative-G;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative G gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcaggg GAGCTCTGCGTT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgagctctgcgttAGATCGAGACCCGACGC chr14:23192080-Alternative-G;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative A gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcaggg GGATCTGCGAGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAggatctgcgagaAGATCGAGACCCGACGC chr14:23192080-Alternative-A;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Variant T gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcaggg AACTCTATGCGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggTcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAaactctatgcgaAGATCGAGACCCGACGC chr14:23192080-Variant-T;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Reference C gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcaggg ATCGCACGGTGT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAatcgcacggtgtAGATCGAGACCCGACGC chr14:23192080-Reference-C;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative A gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcaggg GGCTTAGGAGGT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggAcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAggcttaggaggtAGATCGAGACCCGACGC chr14:23192080-Alternative-A;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Reference C gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcaggg AGACGCTCTGAC CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAagacgctctgacAGATCGAGACCCGACGC chr14:23192080-Reference-C;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Reference C gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcaggg AATCTTAGGCCT CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAaatcttaggcctAGATCGAGACCCGACGC chr14:23192080-Reference-C;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Reference C gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcaggg GCCAAGACCAAC CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggCcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAgccaagaccaacAGATCGAGACCCGACGC chr14:23192080-Reference-C;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative G gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcaggg CTCACGGATAGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAActcacggatagaAGATCGAGACCCGACGC chr14:23192080-Alternative-G;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative G gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcaggg AGCCGTACACGA CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAagccgtacacgaAGATCGAGACCCGACGC chr14:23192080-Alternative-G;Patient-59 chr14:23192080-CT DeNovo Patient-59 intergenic NA 0.000512821 0.03 3.02 0.15 OXA1L 43650 Alternative G gtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcaggg CGTTATGAGTAC CGACGCGGTCTCTCTCTgtgttaaaccgtgagaaactgcccccatgatccaatcacctcctatcaggGcccacctccaacactggagactacaattgaacatgagatttgggcagggAGAGGGAGACGGACGTCTCAATAAcgttatgagtacAGATCGAGACCCGACGC chr14:23192080-Alternative-G;Patient-59 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Reference C agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtg ATACCAAGCGCG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAataccaagcgcgAGATCGAGACCCGACGC chr14:23950866-Reference-C;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative A agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GACTGGCGAATC CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgactggcgaatcAGATCGAGACCCGACGC chr14:23950866-Alternative-A;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Reference C agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CGCCAGTCGAAT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAcgccagtcgaatAGATCGAGACCCGACGC chr14:23950866-Reference-C;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Variant G agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtg ATCGGTTAGTAC CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAatcggttagtacAGATCGAGACCCGACGC chr14:23950866-Variant-G;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Reference C agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CGCTATGCTAGG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAcgctatgctaggAGATCGAGACCCGACGC chr14:23950866-Reference-C;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Reference C agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GTGTTCTTATCG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgtgttcttatcgAGATCGAGACCCGACGC chr14:23950866-Reference-C;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Reference C agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtg ATCTTGCGATGT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctCcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAatcttgcgatgtAGATCGAGACCCGACGC chr14:23950866-Reference-C;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Variant G agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtg ATTACGCGCTAA CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAattacgcgctaaAGATCGAGACCCGACGC chr14:23950866-Variant-G;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Variant G agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GATGTGGTGTAA CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgatgtggtgtaaAGATCGAGACCCGACGC chr14:23950866-Variant-G;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative A agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GTATATGTGGAG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgtatatgtggagAGATCGAGACCCGACGC chr14:23950866-Alternative-A;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative A agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GCATATTAAGCG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgcatattaagcgAGATCGAGACCCGACGC chr14:23950866-Alternative-A;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative T agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GTCGTATCCAAT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAgtcgtatccaatAGATCGAGACCCGACGC chr14:23950866-Alternative-T;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative A agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CTGAGTCATGAT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAActgagtcatgatAGATCGAGACCCGACGC chr14:23950866-Alternative-A;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative T agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CAATGCGATGAG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAcaatgcgatgagAGATCGAGACCCGACGC chr14:23950866-Alternative-T;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Variant G agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CGTAGGCATTCG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAcgtaggcattcgAGATCGAGACCCGACGC chr14:23950866-Variant-G;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative A agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GGAATTGGTAGT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctAcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAggaattggtagtAGATCGAGACCCGACGC chr14:23950866-Alternative-A;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative T agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CTGTGCTTCAAT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAActgtgcttcaatAGATCGAGACCCGACGC chr14:23950866-Alternative-T;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative T agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtg GGTGTTCAACTA CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAggtgttcaactaAGATCGAGACCCGACGC chr14:23950866-Alternative-T;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Variant G agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtg CGCATGCGACAT CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctGcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAcgcatgcgacatAGATCGAGACCCGACGC chr14:23950866-Variant-G;Patient-105 chr14:23950866-CG DeNovo Patient-105 intergenic NA 3.85e-05 0.17 5.45 1.75 NGDN 11967 Alternative T agctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtg ATCATAGTACGG CGACGCGGTCTCTCTCTagctgcgtggtgtagacctgccctttttcagagcccagtttgtccagtctTcagttctgattggtacagattggatgagagtcaaacacacccctgagtgAGAGGGAGACGGACGTCTCAATAAatcatagtacggAGATCGAGACCCGACGC chr14:23950866-Alternative-T;Patient-105 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Variant A aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GAATATCGCGGC CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgaatatcgcggcAGATCGAGACCCGACGC chr14:24548602-Variant-A;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative G aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GCATAGTAGCTA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgcatagtagctaAGATCGAGACCCGACGC chr14:24548602-Alternative-G;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Variant A aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc CGCCGTACTTGT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAcgccgtacttgtAGATCGAGACCCGACGC chr14:24548602-Variant-A;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Reference C aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc CGTCAAGACTAT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAcgtcaagactatAGATCGAGACCCGACGC chr14:24548602-Reference-C;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Reference C aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GATGCGAATCAT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgatgcgaatcatAGATCGAGACCCGACGC chr14:24548602-Reference-C;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Reference C aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc CTGCGGCATGAT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAActgcggcatgatAGATCGAGACCCGACGC chr14:24548602-Reference-C;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Variant A aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc AAGCGTCACGAA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAaagcgtcacgaaAGATCGAGACCCGACGC chr14:24548602-Variant-A;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative G aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc AAGGTTGTTGCT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAaaggttgttgctAGATCGAGACCCGACGC chr14:24548602-Alternative-G;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Reference C aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GGATAGGATTGT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAggataggattgtAGATCGAGACCCGACGC chr14:24548602-Reference-C;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative G aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GTCATTCCGGCA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgtcattccggcaAGATCGAGACCCGACGC chr14:24548602-Alternative-G;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative G aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc ATTGACGACGTC CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAattgacgacgtcAGATCGAGACCCGACGC chr14:24548602-Alternative-G;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative T aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc ACCATTACCGCG CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAaccattaccgcgAGATCGAGACCCGACGC chr14:24548602-Alternative-T;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Reference C aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GTTGAACGGTAA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaCaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgttgaacggtaaAGATCGAGACCCGACGC chr14:24548602-Reference-C;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Variant A aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc CATGCTTAGCTT CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAcatgcttagcttAGATCGAGACCCGACGC chr14:24548602-Variant-A;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Variant A aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc ACAATGGTTCAC CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaAaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAacaatggttcacAGATCGAGACCCGACGC chr14:24548602-Variant-A;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative T aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc CAAGCAACGAGA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAcaagcaacgagaAGATCGAGACCCGACGC chr14:24548602-Alternative-T;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative T aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GGAGGAGTCAAG CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAggaggagtcaagAGATCGAGACCCGACGC chr14:24548602-Alternative-T;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative T aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GGACTCTGGCTA CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAggactctggctaAGATCGAGACCCGACGC chr14:24548602-Alternative-T;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative T aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc GATGTGCTGACC CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaTaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAgatgtgctgaccAGATCGAGACCCGACGC chr14:24548602-Alternative-T;Patient-6 chr14:24548602-CA DeNovo Patient-6 intergenic NA 0.000513 0.07 3.71 -7.15 NRL 5229 Alternative G aagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagc AGAAGTGCTAGG CGACGCGGTCTCTCTCTaagagctgggctcccggaaggaccctccctgccccatcctctcccttcaaGaatgagtgtggaaggggatgaagaaagagaagctaaaggttctgtgagcAGAGGGAGACGGACGTCTCAATAAagaagtgctaggAGATCGAGACCCGACGC chr14:24548602-Alternative-G;Patient-6 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative G aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa CGCGCTAGACAT CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAcgcgctagacatAGATCGAGACCCGACGC chr14:25008415-Alternative-G;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative G aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa GGATATCGGCGA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAggatatcggcgaAGATCGAGACCCGACGC chr14:25008415-Alternative-G;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative G aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ACCGTTAAGGCG CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAaccgttaaggcgAGATCGAGACCCGACGC chr14:25008415-Alternative-G;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative T aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa AATGGCTATTCG CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAaatggctattcgAGATCGAGACCCGACGC chr14:25008415-Alternative-T;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative G aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa AATGATGGAAGG CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAaatgatggaaggAGATCGAGACCCGACGC chr14:25008415-Alternative-G;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative T aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa GGCTCGAGTAGA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAggctcgagtagaAGATCGAGACCCGACGC chr14:25008415-Alternative-T;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative G aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ACACACGGCGAA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagGaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAacacacggcgaaAGATCGAGACCCGACGC chr14:25008415-Alternative-G;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative T aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa CACGCTAGAATC CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAcacgctagaatcAGATCGAGACCCGACGC chr14:25008415-Alternative-T;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative T aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ACCTATCTAGCA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAacctatctagcaAGATCGAGACCCGACGC chr14:25008415-Alternative-T;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Alternative T aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ACTGTGTGGATA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagTaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAactgtgtggataAGATCGAGACCCGACGC chr14:25008415-Alternative-T;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Variant A aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa AGTGAACGCTTC CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAagtgaacgcttcAGATCGAGACCCGACGC chr14:25008415-Variant-A;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Variant A aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa CAGATTCGTCCT CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAcagattcgtcctAGATCGAGACCCGACGC chr14:25008415-Variant-A;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Variant A aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa CATGCTTGCCGA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAcatgcttgccgaAGATCGAGACCCGACGC chr14:25008415-Variant-A;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Variant A aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa CTAGTCGTTAGA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAActagtcgttagaAGATCGAGACCCGACGC chr14:25008415-Variant-A;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Variant A aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa GATGCGATGCAC CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagAaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAgatgcgatgcacAGATCGAGACCCGACGC chr14:25008415-Variant-A;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Reference C aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa AATAGGATCGCA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAaataggatcgcaAGATCGAGACCCGACGC chr14:25008415-Reference-C;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Reference C aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa GTATCCGCTGAG CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAgtatccgctgagAGATCGAGACCCGACGC chr14:25008415-Reference-C;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Reference C aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ACTCGGCAAGTC CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAactcggcaagtcAGATCGAGACCCGACGC chr14:25008415-Reference-C;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Reference C aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ATTGATACCACG CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAattgataccacgAGATCGAGACCCGACGC chr14:25008415-Reference-C;Patient-87 chr14:25008415-CA Inherited Patient-87 intergenic 3.2e-05 0.000513 -0.16 0.93 0.11 CMA1 30943 Reference C aaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaa ATCTCGCGTCAA CGACGCGGTCTCTCTCTaaataaaaaaattaagatttaaatcaataattctttgaaactaatgagagCaaatatacaacatatcagaatctctgggatacagctaaagtagtgttaaAGAGGGAGACGGACGTCTCAATAAatctcgcgtcaaAGATCGAGACCCGACGC chr14:25008415-Reference-C;Patient-87 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Variant C ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGACGAATCAGG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcgacgaatcaggAGATCGAGACCCGACGC chr14:30404884-Variant-C;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative A ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa AATGCGCAGACG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAaatgcgcagacgAGATCGAGACCCGACGC chr14:30404884-Alternative-A;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative A ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGTCGAGCAGTT CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcgtcgagcagttAGATCGAGACCCGACGC chr14:30404884-Alternative-A;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Variant C ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CTTATGCCTGCG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAActtatgcctgcgAGATCGAGACCCGACGC chr14:30404884-Variant-C;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative A ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CAGGTAGAAGCG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcaggtagaagcgAGATCGAGACCCGACGC chr14:30404884-Alternative-A;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Variant C ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGAATAGGTCGA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcgaataggtcgaAGATCGAGACCCGACGC chr14:30404884-Variant-C;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Reference T ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa AACGGCTGCCTA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAaacggctgcctaAGATCGAGACCCGACGC chr14:30404884-Reference-T;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Variant C ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GGTCGTTCTTCG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAggtcgttcttcgAGATCGAGACCCGACGC chr14:30404884-Variant-C;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Variant C ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GTTAGCAAGCGG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaCctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgttagcaagcggAGATCGAGACCCGACGC chr14:30404884-Variant-C;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative A ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GCAACTATTGTC CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgcaactattgtcAGATCGAGACCCGACGC chr14:30404884-Alternative-A;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Reference T ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGAACTAATCGG CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcgaactaatcggAGATCGAGACCCGACGC chr14:30404884-Reference-T;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Reference T ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GACCGGTTAACC CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgaccggttaaccAGATCGAGACCCGACGC chr14:30404884-Reference-T;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Reference T ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GTCAGTAGATAC CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgtcagtagatacAGATCGAGACCCGACGC chr14:30404884-Reference-T;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Reference T ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GACATGGAGCAA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaTctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgacatggagcaaAGATCGAGACCCGACGC chr14:30404884-Reference-T;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative A ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGGACAGTTGAC CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaActagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcggacagttgacAGATCGAGACCCGACGC chr14:30404884-Alternative-A;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative G ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa GTGGCGTCTGAA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAgtggcgtctgaaAGATCGAGACCCGACGC chr14:30404884-Alternative-G;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative G ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa ACCAAGCGTCCA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAaccaagcgtccaAGATCGAGACCCGACGC chr14:30404884-Alternative-G;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative G ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa ATCTCAATCGCT CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAatctcaatcgctAGATCGAGACCCGACGC chr14:30404884-Alternative-G;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative G ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CGATCCGGATAT CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcgatccggatatAGATCGAGACCCGACGC chr14:30404884-Alternative-G;Patient-41 chr14:30404884-TC DeNovo Patient-41 intergenic NA 0.000513 0.01 2.81 -1.58 PRKD1 7984 Alternative G ataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataa CATTCTGCCATA CGACGCGGTCTCTCTCTataatatgtatttttataaatacattttgttttgtttaatcagtcagttaGctagagtatccaggaaaactgaagtcctcaaaaactgaaaaaagcataaAGAGGGAGACGGACGTCTCAATAAcattctgccataAGATCGAGACCCGACGC chr14:30404884-Alternative-G;Patient-41 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Reference G acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt GGTAATGACGAG CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAggtaatgacgagAGATCGAGACCCGACGC chr14:30459823-Reference-G;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative T acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CACAGATCTCGA CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcacagatctcgaAGATCGAGACCCGACGC chr14:30459823-Alternative-T;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative T acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt AGACGTAGATAC CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAagacgtagatacAGATCGAGACCCGACGC chr14:30459823-Alternative-T;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Reference G acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CGAGAACGATGA CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcgagaacgatgaAGATCGAGACCCGACGC chr14:30459823-Reference-G;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Variant A acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ATCTGCGAGATT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAatctgcgagattAGATCGAGACCCGACGC chr14:30459823-Variant-A;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Reference G acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CGTCCGAAGGAT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcgtccgaaggatAGATCGAGACCCGACGC chr14:30459823-Reference-G;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative C acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt AATGGTTGGTTC CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAaatggttggttcAGATCGAGACCCGACGC chr14:30459823-Alternative-C;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Reference G acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CAGCTTACGCCT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcagcttacgcctAGATCGAGACCCGACGC chr14:30459823-Reference-G;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Variant A acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ACCGTGTGATTA CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAaccgtgtgattaAGATCGAGACCCGACGC chr14:30459823-Variant-A;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Variant A acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ACGCCTTATCGT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAacgccttatcgtAGATCGAGACCCGACGC chr14:30459823-Variant-A;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Variant A acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CGAAGAATCACG CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcgaagaatcacgAGATCGAGACCCGACGC chr14:30459823-Variant-A;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative C acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt GATTAGCAGCGG CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAgattagcagcggAGATCGAGACCCGACGC chr14:30459823-Alternative-C;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative T acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ACACACAGGAGA CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAacacacaggagaAGATCGAGACCCGACGC chr14:30459823-Alternative-T;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Variant A acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ATCGCGCATTAT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacAtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAatcgcgcattatAGATCGAGACCCGACGC chr14:30459823-Variant-A;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative C acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt GCCGGACGTTAT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAgccggacgttatAGATCGAGACCCGACGC chr14:30459823-Alternative-C;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative C acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt CGATTACTCGTT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAcgattactcgttAGATCGAGACCCGACGC chr14:30459823-Alternative-C;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative T acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt GGATGCAGCCTT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAggatgcagccttAGATCGAGACCCGACGC chr14:30459823-Alternative-T;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative C acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ACATGCTCAACT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacCtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAacatgctcaactAGATCGAGACCCGACGC chr14:30459823-Alternative-C;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Reference G acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt GGCTAGGATCGA CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacGtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAggctaggatcgaAGATCGAGACCCGACGC chr14:30459823-Reference-G;Patient-77 chr14:30459823-GA DeNovo Patient-77 intergenic 0.000136 0.00615 NA NA NA PRKD1 62923 Alternative T acacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgt ACAAGCGTTCTT CGACGCGGTCTCTCTCTacacgtatatacacgtgtatatacatacgtatatatacatatgtatatacTtatatacgtgtatatacgtatatatgtatatacacacgtgtatatatgtAGAGGGAGACGGACGTCTCAATAAacaagcgttcttAGATCGAGACCCGACGC chr14:30459823-Alternative-T;Patient-77 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative T atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CTGAAGACTAGT CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAActgaagactagtAGATCGAGACCCGACGC chr14:31011107-Alternative-T;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative C atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GCCTTAGTCATA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAgccttagtcataAGATCGAGACCCGACGC chr14:31011107-Alternative-C;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative C atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgc AATATGAGGTCG CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAaatatgaggtcgAGATCGAGACCCGACGC chr14:31011107-Alternative-C;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative T atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GGCGTACTAGGT CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAggcgtactaggtAGATCGAGACCCGACGC chr14:31011107-Alternative-T;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative T atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CTATCGATCGAT CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAActatcgatcgatAGATCGAGACCCGACGC chr14:31011107-Alternative-T;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Variant G atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GGTGTCTCCTAC CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAggtgtctcctacAGATCGAGACCCGACGC chr14:31011107-Variant-G;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative C atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgc AGGAGATCGCAC CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAaggagatcgcacAGATCGAGACCCGACGC chr14:31011107-Alternative-C;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative T atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgc ACCGCCAGTATC CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAaccgccagtatcAGATCGAGACCCGACGC chr14:31011107-Alternative-T;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative C atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CGAGTTGGATGG CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAcgagttggatggAGATCGAGACCCGACGC chr14:31011107-Alternative-C;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Reference A atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GCGACAGGATAA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAgcgacaggataaAGATCGAGACCCGACGC chr14:31011107-Reference-A;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative T atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgc AACTATCGCTGA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaTtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAaactatcgctgaAGATCGAGACCCGACGC chr14:31011107-Alternative-T;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Reference A atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GATTCGTATCCT CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAgattcgtatcctAGATCGAGACCCGACGC chr14:31011107-Reference-A;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Reference A atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgc AGAGTAATTCGG CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAagagtaattcggAGATCGAGACCCGACGC chr14:31011107-Reference-A;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Alternative C atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgc ACTATTGTGCAG CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaCtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAactattgtgcagAGATCGAGACCCGACGC chr14:31011107-Alternative-C;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Reference A atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GATCCTCGATAA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAgatcctcgataaAGATCGAGACCCGACGC chr14:31011107-Reference-A;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Variant G atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CGATCCTGCGAA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAcgatcctgcgaaAGATCGAGACCCGACGC chr14:31011107-Variant-G;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Variant G atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CGAATTCGTACA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAcgaattcgtacaAGATCGAGACCCGACGC chr14:31011107-Variant-G;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Reference A atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgc ATTCCGAGTCAA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaAtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAattccgagtcaaAGATCGAGACCCGACGC chr14:31011107-Reference-A;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Variant G atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgc CTTGTTCGAGAA CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAActtgttcgagaaAGATCGAGACCCGACGC chr14:31011107-Variant-G;Patient-21 chr14:31011107-AG Inherited Patient-21 intergenic NA 0.000513 0.4 8.38 0.52 SCFD1 80352 Variant G atccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgc GCGTAATTCGTT CGACGCGGTCTCTCTCTatccttctacctttttgctgaatttagcatccctttcattaatgtagtcaGtatctgcatcattattatagggacatcttgagctatatttgtctcatgcAGAGGGAGACGGACGTCTCAATAAgcgtaattcgttAGATCGAGACCCGACGC chr14:31011107-Variant-G;Patient-21 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative C ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CGGCGCCTATAA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcggcgcctataaAGATCGAGACCCGACGC chr14:31127791-Alternative-C;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative C ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc ACTTCATATCGC CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAacttcatatcgcAGATCGAGACCCGACGC chr14:31127791-Alternative-C;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative C ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc GCATCTACGAGT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAgcatctacgagtAGATCGAGACCCGACGC chr14:31127791-Alternative-C;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative C ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CTGTTCAGGTTA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAActgttcaggttaAGATCGAGACCCGACGC chr14:31127791-Alternative-C;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative C ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc ATAACGTACGAG CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggCtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAataacgtacgagAGATCGAGACCCGACGC chr14:31127791-Alternative-C;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Variant A ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CTCTTGTACCTT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAActcttgtaccttAGATCGAGACCCGACGC chr14:31127791-Variant-A;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Variant A ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc GCGGCAAGTAGT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAgcggcaagtagtAGATCGAGACCCGACGC chr14:31127791-Variant-A;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative T ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc ACGTGAGCGAAT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAacgtgagcgaatAGATCGAGACCCGACGC chr14:31127791-Alternative-T;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Variant A ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CATGCCTAATCA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcatgcctaatcaAGATCGAGACCCGACGC chr14:31127791-Variant-A;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Reference G ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc AAGTGAGCGAAG CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAaagtgagcgaagAGATCGAGACCCGACGC chr14:31127791-Reference-G;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Reference G ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc GATACGCCACCA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAgatacgccaccaAGATCGAGACCCGACGC chr14:31127791-Reference-G;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Variant A ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc AGTCAATGTTCG CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAagtcaatgttcgAGATCGAGACCCGACGC chr14:31127791-Variant-A;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Variant A ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CGATTCGGATGC CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggAtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcgattcggatgcAGATCGAGACCCGACGC chr14:31127791-Variant-A;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Reference G ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc GGCTCTTACGTC CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAggctcttacgtcAGATCGAGACCCGACGC chr14:31127791-Reference-G;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative T ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CAGCGTACTTAA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcagcgtacttaaAGATCGAGACCCGACGC chr14:31127791-Alternative-T;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative T ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CGCTATCGTCGT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcgctatcgtcgtAGATCGAGACCCGACGC chr14:31127791-Alternative-T;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative T ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc AGGTGAACTACA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAaggtgaactacaAGATCGAGACCCGACGC chr14:31127791-Alternative-T;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Alternative T ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CGTACTTACGTT CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggTtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcgtacttacgttAGATCGAGACCCGACGC chr14:31127791-Alternative-T;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Reference G ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc ACCGACATTCAA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAaccgacattcaaAGATCGAGACCCGACGC chr14:31127791-Reference-G;Patient-55 chr14:31127791-GA Inherited Patient-55 intronic SCFD1 NA 4.95e-05 0 2.55 0.55 SCFD1 36330 Reference G ggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatc CGGACAAGCCAA CGACGCGGTCTCTCTCTggcatgtgcaaccatgcccggctaatttttgtatgtttaatagagatgggGtttcgccatgttagccagactgctctagaattcctgacctcaggtgatcAGAGGGAGACGGACGTCTCAATAAcggacaagccaaAGATCGAGACCCGACGC chr14:31127791-Reference-G;Patient-55 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Variant G cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GTTATCGCGTGG CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAgttatcgcgtggAGATCGAGACCCGACGC chr14:31857037-Variant-G;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Variant G cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CTTACACCAACA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAActtacaccaacaAGATCGAGACCCGACGC chr14:31857037-Variant-G;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Reference A cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GTAATGCTAACC CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAgtaatgctaaccAGATCGAGACCCGACGC chr14:31857037-Reference-A;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Variant G cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat AGTTCGATACGG CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAagttcgatacggAGATCGAGACCCGACGC chr14:31857037-Variant-G;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Reference A cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GTGTTATCAGCA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAgtgttatcagcaAGATCGAGACCCGACGC chr14:31857037-Reference-A;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Variant G cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GGAACTTAGCGG CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAggaacttagcggAGATCGAGACCCGACGC chr14:31857037-Variant-G;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative T cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CGGTGGTCTGAA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAcggtggtctgaaAGATCGAGACCCGACGC chr14:31857037-Alternative-T;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Variant G cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GTTATACCGCGC CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggGttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAgttataccgcgcAGATCGAGACCCGACGC chr14:31857037-Variant-G;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative T cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CGGCTTACGCAA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAcggcttacgcaaAGATCGAGACCCGACGC chr14:31857037-Alternative-T;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Reference A cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat ATTGCACACCGA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAattgcacaccgaAGATCGAGACCCGACGC chr14:31857037-Reference-A;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative T cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CACACGAGAGCA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAcacacgagagcaAGATCGAGACCCGACGC chr14:31857037-Alternative-T;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative T cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GGTGTAGGTCCT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAggtgtaggtcctAGATCGAGACCCGACGC chr14:31857037-Alternative-T;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Reference A cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CTGGTGATACTT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAActggtgatacttAGATCGAGACCCGACGC chr14:31857037-Reference-A;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative T cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CTTGCATTCGAT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggTttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAActtgcattcgatAGATCGAGACCCGACGC chr14:31857037-Alternative-T;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Reference A cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CGTGCTATTGAA CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggAttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAcgtgctattgaaAGATCGAGACCCGACGC chr14:31857037-Reference-A;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative C cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GTTGTGACGGAG CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAgttgtgacggagAGATCGAGACCCGACGC chr14:31857037-Alternative-C;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative C cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat CGCCAGTCAACT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAcgccagtcaactAGATCGAGACCCGACGC chr14:31857037-Alternative-C;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative C cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat AACGCCTTACGT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAaacgccttacgtAGATCGAGACCCGACGC chr14:31857037-Alternative-C;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative C cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat GGACTCAGACTT CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAggactcagacttAGATCGAGACCCGACGC chr14:31857037-Alternative-C;Patient-68 chr14:31857037-AG Inherited Patient-68 intronic HEATR5A NA 9.9e-05 0.47 9.11 1.37 HEATR5A 32750 Alternative C cgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaat ACGACTTCGTCC CGACGCGGTCTCTCTCTcgatctcctgacttcgtgatccaccagcctcggcctcccaaagtgctgggCttacaggcgtgagccaccgcacccggcctgaagtgcatagtctttcaatAGAGGGAGACGGACGTCTCAATAAacgacttcgtccAGATCGAGACCCGACGC chr14:31857037-Alternative-C;Patient-68 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative G aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CAGCTTCTTGAT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcagcttcttgatAGATCGAGACCCGACGC chr14:32470368-Alternative-G;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative G aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga AAGATCACGCGC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAaagatcacgcgcAGATCGAGACCCGACGC chr14:32470368-Alternative-G;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative G aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga ACGTAGGAGCGT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAacgtaggagcgtAGATCGAGACCCGACGC chr14:32470368-Alternative-G;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative G aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga AGCGTGCTACAC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAagcgtgctacacAGATCGAGACCCGACGC chr14:32470368-Alternative-G;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Variant T aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga AGGCCATCGAAC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAaggccatcgaacAGATCGAGACCCGACGC chr14:32470368-Variant-T;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Variant T aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga GCAGTATCCGGT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAgcagtatccggtAGATCGAGACCCGACGC chr14:32470368-Variant-T;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative A aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CATCTATCTAGG CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcatctatctaggAGATCGAGACCCGACGC chr14:32470368-Alternative-A;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Variant T aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CGCTCATTGATA CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcgctcattgataAGATCGAGACCCGACGC chr14:32470368-Variant-T;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative G aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga GTCGCTACTGCT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaGgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAgtcgctactgctAGATCGAGACCCGACGC chr14:32470368-Alternative-G;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative A aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga AGTTCGCGGAAC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAagttcgcggaacAGATCGAGACCCGACGC chr14:32470368-Alternative-A;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Reference C aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CGTAGTGGTAGG CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcgtagtggtaggAGATCGAGACCCGACGC chr14:32470368-Reference-C;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Variant T aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga ATCATATCGCGA CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAatcatatcgcgaAGATCGAGACCCGACGC chr14:32470368-Variant-T;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Variant T aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga GCGAAGAGATGC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaTgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAgcgaagagatgcAGATCGAGACCCGACGC chr14:32470368-Variant-T;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Reference C aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga AACGAGGATCAT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAaacgaggatcatAGATCGAGACCCGACGC chr14:32470368-Reference-C;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative A aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CTCTATCAGTGT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAActctatcagtgtAGATCGAGACCCGACGC chr14:32470368-Alternative-A;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Reference C aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga ATAGTTGACGAG CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAatagttgacgagAGATCGAGACCCGACGC chr14:32470368-Reference-C;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative A aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga GGTGACGTGAAC CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAggtgacgtgaacAGATCGAGACCCGACGC chr14:32470368-Alternative-A;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Reference C aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CGACGAGCTGAT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcgacgagctgatAGATCGAGACCCGACGC chr14:32470368-Reference-C;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Alternative A aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga GATGCGGAGCTT CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaAgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAgatgcggagcttAGATCGAGACCCGACGC chr14:32470368-Alternative-A;Patient-33 chr14:32470368-CT DeNovo Patient-33 intergenic 0.000159 0.000513 NA NA NA ARHGAP5 76126 Reference C aatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttga CGGTCGCGAATA CGACGCGGTCTCTCTCTaatcacagtaatccatgatagtgattgaggtgattggagatggaaaagcaCgtttcctcagtgatctgaaagatttttttattgaacaaaactcatttgaAGAGGGAGACGGACGTCTCAATAAcggtcgcgaataAGATCGAGACCCGACGC chr14:32470368-Reference-C;Patient-33 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative T agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac CGGACCGGTATA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAcggaccggtataAGATCGAGACCCGACGC chr14:32866339-Alternative-T;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Variant G agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac CGCTTGACATAA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAcgcttgacataaAGATCGAGACCCGACGC chr14:32866339-Variant-G;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative T agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GGCAATTGGTGG CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAggcaattggtggAGATCGAGACCCGACGC chr14:32866339-Alternative-T;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Variant G agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GACGAAGAGTAA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgacgaagagtaaAGATCGAGACCCGACGC chr14:32866339-Variant-G;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Variant G agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac AGTAGCTTCTGA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAagtagcttctgaAGATCGAGACCCGACGC chr14:32866339-Variant-G;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Variant G agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac AACAAGACATCG CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAaacaagacatcgAGATCGAGACCCGACGC chr14:32866339-Variant-G;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative T agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac AGCTCGGTTGCA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAagctcggttgcaAGATCGAGACCCGACGC chr14:32866339-Alternative-T;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Variant G agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac CTATCCGCCGTT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcGtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAActatccgccgttAGATCGAGACCCGACGC chr14:32866339-Variant-G;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative T agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GTGCTAGGATAA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgtgctaggataaAGATCGAGACCCGACGC chr14:32866339-Alternative-T;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Reference A agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac ACCGTACGCGAT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAaccgtacgcgatAGATCGAGACCCGACGC chr14:32866339-Reference-A;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Reference A agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac CTTACAAGGACG CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAActtacaaggacgAGATCGAGACCCGACGC chr14:32866339-Reference-A;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative T agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GTTGGACTCGGT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcTtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgttggactcggtAGATCGAGACCCGACGC chr14:32866339-Alternative-T;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Reference A agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GATTCGGCATTA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgattcggcattaAGATCGAGACCCGACGC chr14:32866339-Reference-A;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative C agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GCAACTATGACC CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgcaactatgaccAGATCGAGACCCGACGC chr14:32866339-Alternative-C;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Reference A agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GAGTTAGGCCGA CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgagttaggccgaAGATCGAGACCCGACGC chr14:32866339-Reference-A;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative C agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac ATCGCGCGAGAT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAatcgcgcgagatAGATCGAGACCCGACGC chr14:32866339-Alternative-C;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Reference A agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac AGGCGATCATCG CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcAtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAaggcgatcatcgAGATCGAGACCCGACGC chr14:32866339-Reference-A;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative C agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac CAGATCTGCCGT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAcagatctgccgtAGATCGAGACCCGACGC chr14:32866339-Alternative-C;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative C agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GGCTAATGCCGT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAggctaatgccgtAGATCGAGACCCGACGC chr14:32866339-Alternative-C;Patient-88 chr14:32866339-AG DeNovo Patient-88 intronic AKAP6 NA 0.00016 -0.06 1.79 0.31 AKAP6 67859 Alternative C agtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccac GAGTGTATCGTT CGACGCGGTCTCTCTCTagtcccagagcttccaattcagtagctctggagaaggcctgagaatttgcCtgtttaaaaagttccacaatggtgctgttgctactggtccaaggaccacAGAGGGAGACGGACGTCTCAATAAgagtgtatcgttAGATCGAGACCCGACGC chr14:32866339-Alternative-C;Patient-88 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Reference T acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg AATACGCCATCA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAaatacgccatcaAGATCGAGACCCGACGC chr14:33358011-Reference-T;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Reference T acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CGCGTTGGTATC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAcgcgttggtatcAGATCGAGACCCGACGC chr14:33358011-Reference-T;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Reference T acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CGAATGCGGTTC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAcgaatgcggttcAGATCGAGACCCGACGC chr14:33358011-Reference-T;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative A acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GGCGCGTAATGA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAggcgcgtaatgaAGATCGAGACCCGACGC chr14:33358011-Alternative-A;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Reference T acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg AACACAGCGGCA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAaacacagcggcaAGATCGAGACCCGACGC chr14:33358011-Reference-T;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Reference T acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CTGGCGATACAC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatTaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAActggcgatacacAGATCGAGACCCGACGC chr14:33358011-Reference-T;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative A acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg ACTTCCTGATAC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAacttcctgatacAGATCGAGACCCGACGC chr14:33358011-Alternative-A;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative A acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg ACACGACTTAGG CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAacacgacttaggAGATCGAGACCCGACGC chr14:33358011-Alternative-A;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative A acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg AGATCGCTTAAC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAagatcgcttaacAGATCGAGACCCGACGC chr14:33358011-Alternative-A;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative C acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GCAAGTCTCGAT CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAgcaagtctcgatAGATCGAGACCCGACGC chr14:33358011-Alternative-C;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Variant G acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CTCGTAGTCATA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAActcgtagtcataAGATCGAGACCCGACGC chr14:33358011-Variant-G;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative A acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CAGCTTGATACT CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatAaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAcagcttgatactAGATCGAGACCCGACGC chr14:33358011-Alternative-A;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative C acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GGAACTCGGAAC CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAggaactcggaacAGATCGAGACCCGACGC chr14:33358011-Alternative-C;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative C acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GGAACTCGCAAG CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAggaactcgcaagAGATCGAGACCCGACGC chr14:33358011-Alternative-C;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Variant G acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CATGCTTGTAGA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAcatgcttgtagaAGATCGAGACCCGACGC chr14:33358011-Variant-G;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative C acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CATCAGACGGAA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAcatcagacggaaAGATCGAGACCCGACGC chr14:33358011-Alternative-C;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Variant G acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GTGGCTCTGTGA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAgtggctctgtgaAGATCGAGACCCGACGC chr14:33358011-Variant-G;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Alternative C acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg GAGGTACGCCTT CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatCaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAgaggtacgccttAGATCGAGACCCGACGC chr14:33358011-Alternative-C;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Variant G acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg AGCGGCAGCATA CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAAagcggcagcataAGATCGAGACCCGACGC chr14:33358011-Variant-G;Patient-105 chr14:33358011-TG DeNovo Patient-105 intergenic 9.6e-05 3.85e-05 -0.02 2.34 0.39 NPAS3 50447 Variant G acaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactg CTGGTATACCGT CGACGCGGTCTCTCTCTacaatagaaaacaatactccacataatagaaaacaaaataataaaaatatGaattgaatcataagttggtcctttggaaaaaaattaaagtgataaactgAGAGGGAGACGGACGTCTCAATAActggtataccgtAGATCGAGACCCGACGC chr14:33358011-Variant-G;Patient-105 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative C attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc ATCGGTTGGATA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAatcggttggataAGATCGAGACCCGACGC chr14:36934486-Alternative-C;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative C attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GTGATGAACGAT CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAgtgatgaacgatAGATCGAGACCCGACGC chr14:36934486-Alternative-C;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative C attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc AGAGGTTCGTCC CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAagaggttcgtccAGATCGAGACCCGACGC chr14:36934486-Alternative-C;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative C attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc AAGGACGTCGGT CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAaaggacgtcggtAGATCGAGACCCGACGC chr14:36934486-Alternative-C;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative T attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GAATATAGGCGT CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAgaatataggcgtAGATCGAGACCCGACGC chr14:36934486-Alternative-T;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative T attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc ACACATCGCGAC CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAacacatcgcgacAGATCGAGACCCGACGC chr14:36934486-Alternative-T;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Reference G attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc ACACCTTCGTCG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAacaccttcgtcgAGATCGAGACCCGACGC chr14:36934486-Reference-G;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative T attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GGTAGGATTCGG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAggtaggattcggAGATCGAGACCCGACGC chr14:36934486-Alternative-T;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative T attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc CAGCGATAATGA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAcagcgataatgaAGATCGAGACCCGACGC chr14:36934486-Alternative-T;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Reference G attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GGCTGACAGATT CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAggctgacagattAGATCGAGACCCGACGC chr14:36934486-Reference-G;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Reference G attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc CGAGTCTAGTCG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAcgagtctagtcgAGATCGAGACCCGACGC chr14:36934486-Reference-G;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Variant A attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GTCAACGGATGG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAgtcaacggatggAGATCGAGACCCGACGC chr14:36934486-Variant-A;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Reference G attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc ACTCTACACGCG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAactctacacgcgAGATCGAGACCCGACGC chr14:36934486-Reference-G;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Reference G attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GTGACTCCGTGA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacGgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAgtgactccgtgaAGATCGAGACCCGACGC chr14:36934486-Reference-G;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative T attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc ACTATGCGGATA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacTgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAactatgcggataAGATCGAGACCCGACGC chr14:36934486-Alternative-T;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Variant A attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc AGTAACGTCAGA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAagtaacgtcagaAGATCGAGACCCGACGC chr14:36934486-Variant-A;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Variant A attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GTCGAGATAGCG CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAgtcgagatagcgAGATCGAGACCCGACGC chr14:36934486-Variant-A;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Variant A attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GGATGTTAGGAT CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAggatgttaggatAGATCGAGACCCGACGC chr14:36934486-Variant-A;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Variant A attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc GGTGATATGTGA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacAgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAAggtgatatgtgaAGATCGAGACCCGACGC chr14:36934486-Variant-A;Patient-16 chr14:36934486-GA DeNovo Patient-16 intergenic 6.4e-05 0.000513 -0.13 1.14 0.16 NKX2-1 54943 Alternative C attaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagc CTAATGACGCCA CGACGCGGTCTCTCTCTattaggagttcagtatgagaaaaaaaaaaagtgttgttggggcggtgcacCgtgatggtggcagagaaaaggaagttctctgtagggctggaagaccagcAGAGGGAGACGGACGTCTCAATAActaatgacgccaAGATCGAGACCCGACGC chr14:36934486-Alternative-C;Patient-16 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Reference G atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac GTGAATCGGCAT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAgtgaatcggcatAGATCGAGACCCGACGC chr14:37057380-Reference-G;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative T atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CTTGGTCCGTGA CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAActtggtccgtgaAGATCGAGACCCGACGC chr14:37057380-Alternative-T;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Reference G atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac ACCTTGGTCGAG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAaccttggtcgagAGATCGAGACCCGACGC chr14:37057380-Reference-G;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative T atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CATCAGATACCA CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAcatcagataccaAGATCGAGACCCGACGC chr14:37057380-Alternative-T;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Reference G atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AGATGGCTGGTT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAagatggctggttAGATCGAGACCCGACGC chr14:37057380-Reference-G;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Reference G atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AGACGCAGAGTT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAagacgcagagttAGATCGAGACCCGACGC chr14:37057380-Reference-G;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Variant A atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CTGTGCTGAGCA CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAActgtgctgagcaAGATCGAGACCCGACGC chr14:37057380-Variant-A;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Reference G atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac ACGCACCTATGG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctGtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAacgcacctatggAGATCGAGACCCGACGC chr14:37057380-Reference-G;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Variant A atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CTAGCTTGCATT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAActagcttgcattAGATCGAGACCCGACGC chr14:37057380-Variant-A;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Variant A atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CTCGTAGTCGCT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAActcgtagtcgctAGATCGAGACCCGACGC chr14:37057380-Variant-A;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative T atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CATGAATGACCT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAcatgaatgacctAGATCGAGACCCGACGC chr14:37057380-Alternative-T;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative T atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac ACTCATACACCG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAactcatacaccgAGATCGAGACCCGACGC chr14:37057380-Alternative-T;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative C atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AGGCTTCTGACG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAaggcttctgacgAGATCGAGACCCGACGC chr14:37057380-Alternative-C;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Variant A atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac GACGCAACTAAT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAgacgcaactaatAGATCGAGACCCGACGC chr14:37057380-Variant-A;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Variant A atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac ATACCACGGTCA CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctAtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAataccacggtcaAGATCGAGACCCGACGC chr14:37057380-Variant-A;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative C atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac CATTAGCGACAG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAcattagcgacagAGATCGAGACCCGACGC chr14:37057380-Alternative-C;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative C atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AACCAAGGCGAC CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAaaccaaggcgacAGATCGAGACCCGACGC chr14:37057380-Alternative-C;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative T atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac ACACGGTTCACG CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctTtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAacacggttcacgAGATCGAGACCCGACGC chr14:37057380-Alternative-T;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative C atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AGTTCATAACGC CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAagttcataacgcAGATCGAGACCCGACGC chr14:37057380-Alternative-C;Patient-89 chr14:37057380-GA Inherited Patient-89 intergenic NA 0.000513 1.93 18.58 4.15 NKX2-1 67949 Alternative C atatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccac AGTTCGTTGGAT CGACGCGGTCTCTCTCTatatatgtttactgcagcctctggaaatcccttaaccagcaaaggtggctCtctttgtattcttgattaaatgggtatttgcactgaagtcacataccacAGAGGGAGACGGACGTCTCAATAAagttcgttggatAGATCGAGACCCGACGC chr14:37057380-Alternative-C;Patient-89 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Reference T gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg GCAATCGCGATA CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAgcaatcgcgataAGATCGAGACCCGACGC chr14:39552097-Reference-T;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Reference T gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg CAACGATAGGCG CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAcaacgataggcgAGATCGAGACCCGACGC chr14:39552097-Reference-T;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Reference T gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ATCGACGTTCAA CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAatcgacgttcaaAGATCGAGACCCGACGC chr14:39552097-Reference-T;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Variant A gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg CTTACGCCGAAC CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAActtacgccgaacAGATCGAGACCCGACGC chr14:39552097-Variant-A;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative G gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg AGATCGTATTCG CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAagatcgtattcgAGATCGAGACCCGACGC chr14:39552097-Alternative-G;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative C gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg CATTAGTGTGGT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAcattagtgtggtAGATCGAGACCCGACGC chr14:39552097-Alternative-C;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Variant A gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg CGTGGTTAAGAA CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAcgtggttaagaaAGATCGAGACCCGACGC chr14:39552097-Variant-A;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Variant A gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ACGTCGAACGTC CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAacgtcgaacgtcAGATCGAGACCCGACGC chr14:39552097-Variant-A;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative G gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg AACGGTCGTCCT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAaacggtcgtcctAGATCGAGACCCGACGC chr14:39552097-Alternative-G;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative C gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg GACGCACTAATT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAgacgcactaattAGATCGAGACCCGACGC chr14:39552097-Alternative-C;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative C gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ATCGTAGTACAC CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAatcgtagtacacAGATCGAGACCCGACGC chr14:39552097-Alternative-C;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative C gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg AGGACGACTAAT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAaggacgactaatAGATCGAGACCCGACGC chr14:39552097-Alternative-C;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative C gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ACGCCTATAGAT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatCgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAacgcctatagatAGATCGAGACCCGACGC chr14:39552097-Alternative-C;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative G gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg GGAACAACGCGA CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAggaacaacgcgaAGATCGAGACCCGACGC chr14:39552097-Alternative-G;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative G gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg CGCGTTCTTGTC CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAcgcgttcttgtcAGATCGAGACCCGACGC chr14:39552097-Alternative-G;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Variant A gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ACCGCATGTCGA CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAaccgcatgtcgaAGATCGAGACCCGACGC chr14:39552097-Variant-A;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Reference T gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg AACCGTCAACTT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAaaccgtcaacttAGATCGAGACCCGACGC chr14:39552097-Reference-T;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Reference T gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg GATTCATGTTCG CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatTgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAgattcatgttcgAGATCGAGACCCGACGC chr14:39552097-Reference-T;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Alternative G gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg ATATGTTCGTCC CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatGgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAatatgttcgtccAGATCGAGACCCGACGC chr14:39552097-Alternative-G;Patient-110 chr14:39552097-TA DeNovo Patient-110 intronic SEC23A 0.000159 3.98e-05 0.05 3.5 0.53 SEC23A 20339 Variant A gaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatg GGCTGTGCTTCT CGACGCGGTCTCTCTCTgaacattttaccaaataactggtctgaatcttccaaagatcaggaaagatAgaggaactgttccaggatgaaggagggtaaatagatatagccataaatgAGAGGGAGACGGACGTCTCAATAAggctgtgcttctAGATCGAGACCCGACGC chr14:39552097-Variant-A;Patient-110 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Reference G ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgtttttttttttt ACCTTCAATTGC CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAaccttcaattgcAGATCGAGACCCGACGC chr14:50401592-Reference-G;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Reference G ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgtttttttttttt CTAGAAGCTCTT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAActagaagctcttAGATCGAGACCCGACGC chr14:50401592-Reference-G;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Reference G ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgtttttttttttt GTAGTCTTGGAT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgtagtcttggatAGATCGAGACCCGACGC chr14:50401592-Reference-G;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative T ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgtttttttttttt CGACTATACGCG CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAcgactatacgcgAGATCGAGACCCGACGC chr14:50401592-Alternative-T;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Reference G ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgtttttttttttt AAGCAAGGCTTA CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAaagcaaggcttaAGATCGAGACCCGACGC chr14:50401592-Reference-G;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative T ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgtttttttttttt GTTACGCTAAGA CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgttacgctaagaAGATCGAGACCCGACGC chr14:50401592-Alternative-T;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Reference G ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgtttttttttttt GGCCATGGCTAA CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaGaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAggccatggctaaAGATCGAGACCCGACGC chr14:50401592-Reference-G;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative T ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgtttttttttttt GATGGCATCGAG CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgatggcatcgagAGATCGAGACCCGACGC chr14:50401592-Alternative-T;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative T ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgtttttttttttt AGTACAAGGTGT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAagtacaaggtgtAGATCGAGACCCGACGC chr14:50401592-Alternative-T;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Variant A ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgtttttttttttt GGCGGATTGCTT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAggcggattgcttAGATCGAGACCCGACGC chr14:50401592-Variant-A;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Variant A ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgtttttttttttt GTCGCGATTGCA CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgtcgcgattgcaAGATCGAGACCCGACGC chr14:50401592-Variant-A;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative T ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgtttttttttttt GTTCTGTGCGCT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaTaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgttctgtgcgctAGATCGAGACCCGACGC chr14:50401592-Alternative-T;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative C ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgtttttttttttt GGTCTTCTTGAT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAggtcttcttgatAGATCGAGACCCGACGC chr14:50401592-Alternative-C;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Variant A ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgtttttttttttt GCAATGCGGTCT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAgcaatgcggtctAGATCGAGACCCGACGC chr14:50401592-Variant-A;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Variant A ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgtttttttttttt CTCAAGTCGGAC CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAActcaagtcggacAGATCGAGACCCGACGC chr14:50401592-Variant-A;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative C ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgtttttttttttt ATAGCTGTCAAG CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAatagctgtcaagAGATCGAGACCCGACGC chr14:50401592-Alternative-C;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative C ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgtttttttttttt ATACGAGTGGAT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAatacgagtggatAGATCGAGACCCGACGC chr14:50401592-Alternative-C;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Variant A ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgtttttttttttt AGGTGCGCGATT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaAaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAaggtgcgcgattAGATCGAGACCCGACGC chr14:50401592-Variant-A;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative C ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgtttttttttttt CGATGCTCTATT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAAcgatgctctattAGATCGAGACCCGACGC chr14:50401592-Alternative-C;Patient-82 chr14:50401592-GA DeNovo Patient-82 intergenic NA 0.000160205 -0.04 2.08 0.66 ARF6 41855 Alternative C ctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgtttttttttttt CTACCAAGTTCT CGACGCGGTCTCTCTCTctgcagagtcagcagttacattctgctgagtaatgaatgcaaactgctcaCaattacagaacacttaaagcaactcattttaactatgttttttttttttAGAGGGAGACGGACGTCTCAATAActaccaagttctAGATCGAGACCCGACGC chr14:50401592-Alternative-C;Patient-82 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Variant T cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag AGCCAACCTAAT CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAagccaacctaatAGATCGAGACCCGACGC chr14:50687110-Variant-T;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Variant T cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CAAGCGTCACAG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAcaagcgtcacagAGATCGAGACCCGACGC chr14:50687110-Variant-T;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Reference C cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CTTGCCTTAAGG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAActtgccttaaggAGATCGAGACCCGACGC chr14:50687110-Reference-C;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Reference C cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GACAACAAGTAC CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAgacaacaagtacAGATCGAGACCCGACGC chr14:50687110-Reference-C;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Reference C cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GGCGAGTGTAAC CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAggcgagtgtaacAGATCGAGACCCGACGC chr14:50687110-Reference-C;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative A cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CATTGAATCACG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAcattgaatcacgAGATCGAGACCCGACGC chr14:50687110-Alternative-A;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Variant T cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GTCATCAATGCT CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAgtcatcaatgctAGATCGAGACCCGACGC chr14:50687110-Variant-T;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Variant T cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag AACGTCACAGCT CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAaacgtcacagctAGATCGAGACCCGACGC chr14:50687110-Variant-T;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Reference C cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GATTGTTCAACG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAgattgttcaacgAGATCGAGACCCGACGC chr14:50687110-Reference-C;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Variant T cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag AAGAACGATTCG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagTgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAaagaacgattcgAGATCGAGACCCGACGC chr14:50687110-Variant-T;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative A cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GTAACAATGTGG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAgtaacaatgtggAGATCGAGACCCGACGC chr14:50687110-Alternative-A;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative A cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CTGGTCTTGTAA CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAActggtcttgtaaAGATCGAGACCCGACGC chr14:50687110-Alternative-A;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative A cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CGGAATGCACAG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAcggaatgcacagAGATCGAGACCCGACGC chr14:50687110-Alternative-A;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative G cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CAGAGGTAAGCA CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAcagaggtaagcaAGATCGAGACCCGACGC chr14:50687110-Alternative-G;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative G cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag ACGATCGTCTAA CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAacgatcgtctaaAGATCGAGACCCGACGC chr14:50687110-Alternative-G;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative A cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag AGGCGGTGAATC CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagAgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAaggcggtgaatcAGATCGAGACCCGACGC chr14:50687110-Alternative-A;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative G cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CAACTCTACAGG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAcaactctacaggAGATCGAGACCCGACGC chr14:50687110-Alternative-G;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative G cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GGAAGACGACAT CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAggaagacgacatAGATCGAGACCCGACGC chr14:50687110-Alternative-G;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Reference C cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag GCAGCATACGAG CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagCgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAAgcagcatacgagAGATCGAGACCCGACGC chr14:50687110-Reference-C;Patient-40 chr14:50687110-CT DeNovo Patient-40 intronic SOS2 NA 4.95e-05 -0.84 0.01 -1.05 SOS2 10988 Alternative G cttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaag CTGCATAGGTAA CGACGCGGTCTCTCTCTcttgcagtgagccaagatagcaccactgcactccagcctgggcgacagagGgagactccatctcaaaaaaaaaaaaaaaaagaacagaccctgcataaagAGAGGGAGACGGACGTCTCAATAActgcataggtaaAGATCGAGACCCGACGC chr14:50687110-Alternative-G;Patient-40 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative T atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg ATTCGCGTCGCT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAattcgcgtcgctAGATCGAGACCCGACGC chr14:51170476-Alternative-T;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative T atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CTCTATAGCCTA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAActctatagcctaAGATCGAGACCCGACGC chr14:51170476-Alternative-T;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative T atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AGTCGCATGTCG CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAagtcgcatgtcgAGATCGAGACCCGACGC chr14:51170476-Alternative-T;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative T atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CTCACGGTTGAG CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAActcacggttgagAGATCGAGACCCGACGC chr14:51170476-Alternative-T;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative A atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CTTAGGTATGCA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAActtaggtatgcaAGATCGAGACCCGACGC chr14:51170476-Alternative-A;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Reference G atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AGCTGCGTGTGA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAagctgcgtgtgaAGATCGAGACCCGACGC chr14:51170476-Reference-G;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative A atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg GGTCATTGCGAT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAggtcattgcgatAGATCGAGACCCGACGC chr14:51170476-Alternative-A;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Reference G atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AACGGTCGACTA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAaacggtcgactaAGATCGAGACCCGACGC chr14:51170476-Reference-G;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative A atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg ATTCTGGCGCCA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAattctggcgccaAGATCGAGACCCGACGC chr14:51170476-Alternative-A;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative A atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AGTCATTAGCGT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAagtcattagcgtAGATCGAGACCCGACGC chr14:51170476-Alternative-A;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Variant C atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CAACGCGGCATT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAcaacgcggcattAGATCGAGACCCGACGC chr14:51170476-Variant-C;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative T atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AACACGAACCTT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttTtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAaacacgaaccttAGATCGAGACCCGACGC chr14:51170476-Alternative-T;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Variant C atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CTTAACCGTCAT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAActtaaccgtcatAGATCGAGACCCGACGC chr14:51170476-Variant-C;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Variant C atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg AATGGAATGCCG CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAaatggaatgccgAGATCGAGACCCGACGC chr14:51170476-Variant-C;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Variant C atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg CTGAACCTCGTC CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAActgaacctcgtcAGATCGAGACCCGACGC chr14:51170476-Variant-C;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Variant C atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg GATTGCCGACGT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttCtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAgattgccgacgtAGATCGAGACCCGACGC chr14:51170476-Variant-C;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Alternative A atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg GGCGTGGTGTAA CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttAtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAggcgtggtgtaaAGATCGAGACCCGACGC chr14:51170476-Alternative-A;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Reference G atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg ATCATGCGTCAT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAatcatgcgtcatAGATCGAGACCCGACGC chr14:51170476-Reference-G;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Reference G atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg GGTTGTCGAGCT CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAggttgtcgagctAGATCGAGACCCGACGC chr14:51170476-Reference-G;Patient-59 chr14:51170476-GC DeNovo Patient-59 intergenic NA 0.000513 -0.28 0.42 0 SAV1 35404 Reference G atgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttg ACGAAGGAACGC CGACGCGGTCTCTCTCTatgattcaggttaaggaaacttagatggatatttagatgaagcctaggttGtccaggtgggtccagtctaatcacatgagtttttttgtttttgattttgAGAGGGAGACGGACGTCTCAATAAacgaaggaacgcAGATCGAGACCCGACGC chr14:51170476-Reference-G;Patient-59 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Variant A gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt CGGAGCTCTGTT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAcggagctctgttAGATCGAGACCCGACGC chr14:52492954-Variant-A;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative T gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt ATCGGTGTCCGA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAatcggtgtccgaAGATCGAGACCCGACGC chr14:52492954-Alternative-T;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Variant A gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt AATATTCGCGAC CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAaatattcgcgacAGATCGAGACCCGACGC chr14:52492954-Variant-A;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Variant A gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt AAGGCTAGCGCA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAaaggctagcgcaAGATCGAGACCCGACGC chr14:52492954-Variant-A;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Variant A gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt ACATAGCGGCCA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAacatagcggccaAGATCGAGACCCGACGC chr14:52492954-Variant-A;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative T gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt AACACGGATCAT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAaacacggatcatAGATCGAGACCCGACGC chr14:52492954-Alternative-T;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Reference G gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt ACTCTAAGGTAC CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAactctaaggtacAGATCGAGACCCGACGC chr14:52492954-Reference-G;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative T gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GGCTAACTGCGT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAggctaactgcgtAGATCGAGACCCGACGC chr14:52492954-Alternative-T;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Variant A gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt CTCAATCAACCA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccAtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAActcaatcaaccaAGATCGAGACCCGACGC chr14:52492954-Variant-A;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative C gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GCCAACACCATC CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAgccaacaccatcAGATCGAGACCCGACGC chr14:52492954-Alternative-C;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative C gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt CTCTGACAGTTA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAActctgacagttaAGATCGAGACCCGACGC chr14:52492954-Alternative-C;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative C gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GCGAACATAAGT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAgcgaacataagtAGATCGAGACCCGACGC chr14:52492954-Alternative-C;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative C gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt ACGACGGAACGT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAacgacggaacgtAGATCGAGACCCGACGC chr14:52492954-Alternative-C;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Reference G gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GCGAATAGCGCT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAgcgaatagcgctAGATCGAGACCCGACGC chr14:52492954-Reference-G;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative C gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt CATGCGACGTGT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccCtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAcatgcgacgtgtAGATCGAGACCCGACGC chr14:52492954-Alternative-C;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative T gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GCGGAGATGCTT CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAgcggagatgcttAGATCGAGACCCGACGC chr14:52492954-Alternative-T;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Reference G gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt AAGGCCGCTCTA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAaaggccgctctaAGATCGAGACCCGACGC chr14:52492954-Reference-G;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Reference G gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt GGAGTCGTGTGA CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAggagtcgtgtgaAGATCGAGACCCGACGC chr14:52492954-Reference-G;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Reference G gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt AGAACGCTTCGC CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccGtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAagaacgcttcgcAGATCGAGACCCGACGC chr14:52492954-Reference-G;Patient-69 chr14:52492954-GA DeNovo Patient-69 intronic NID2 0.00035 0.000197961 -0.05 1.91 -3.36 NID2 42991 Alternative T gaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttctt CACGATACGAAG CGACGCGGTCTCTCTCTgaatgggagaaggatgagaatcaaacatctggtgaggaggagggaggcccTtgctattcggatctggtataaagctcccaggaattgcaaagctgttcttAGAGGGAGACGGACGTCTCAATAAcacgatacgaagAGATCGAGACCCGACGC chr14:52492954-Alternative-T;Patient-69 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Reference C acacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GCAGCTGGTCTA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAgcagctggtctaAGATCGAGACCCGACGC chr14:52494402-Reference-C;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative T acacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ATACTTGGACAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAatacttggacacAGATCGAGACCCGACGC chr14:52494402-Alternative-T;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Reference C acacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ACTACGCAATGT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAactacgcaatgtAGATCGAGACCCGACGC chr14:52494402-Reference-C;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Variant A acacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttcttttttt AGATATCCGGCG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAagatatccggcgAGATCGAGACCCGACGC chr14:52494402-Variant-A;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Variant A acacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ATTGGCGCGAGT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAattggcgcgagtAGATCGAGACCCGACGC chr14:52494402-Variant-A;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Variant A acacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttcttttttt AAGTGCTTGCTA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAaagtgcttgctaAGATCGAGACCCGACGC chr14:52494402-Variant-A;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative T acacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GCCGTAGGTAGT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAgccgtaggtagtAGATCGAGACCCGACGC chr14:52494402-Alternative-T;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative T acacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ACTTGACGATCA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAacttgacgatcaAGATCGAGACCCGACGC chr14:52494402-Alternative-T;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Reference C acacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttcttttttt CATTGGCGTGGT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAcattggcgtggtAGATCGAGACCCGACGC chr14:52494402-Reference-C;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Variant A acacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttcttttttt AAGCGGTGTTCG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAaagcggtgttcgAGATCGAGACCCGACGC chr14:52494402-Variant-A;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Reference C acacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GGCCATTGGTAT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAggccattggtatAGATCGAGACCCGACGC chr14:52494402-Reference-C;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative G acacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GGTATTGACTGA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAggtattgactgaAGATCGAGACCCGACGC chr14:52494402-Alternative-G;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative G acacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttcttttttt CTAATTAGACCG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAActaattagaccgAGATCGAGACCCGACGC chr14:52494402-Alternative-G;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative G acacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttcttttttt CAATACTACGAG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAcaatactacgagAGATCGAGACCCGACGC chr14:52494402-Alternative-G;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative G acacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ACTCACGAAGTT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAactcacgaagttAGATCGAGACCCGACGC chr14:52494402-Alternative-G;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative T acacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttcttttttt ATCGTGATCAAG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAatcgtgatcaagAGATCGAGACCCGACGC chr14:52494402-Alternative-T;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative G acacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GTGCTACGCTTC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaGttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAgtgctacgcttcAGATCGAGACCCGACGC chr14:52494402-Alternative-G;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Alternative T acacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttcttttttt GGTCGTTGTCCT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaTttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAggtcgttgtcctAGATCGAGACCCGACGC chr14:52494402-Alternative-T;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Reference C acacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttcttttttt AAGATCGAGTAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaCttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAaagatcgagtacAGATCGAGACCCGACGC chr14:52494402-Reference-C;Patient-42 chr14:52494402-CA DeNovo Patient-42 intronic NID2 NA 9.69e-05 -0.27 0.44 -2.6 NID2 41543 Variant A acacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttcttttttt CAGTTATGGCTA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacacgcagtttctcctgtcaAttttaccctcatcccactgaattaaagagtgcattttctttctttttttAGAGGGAGACGGACGTCTCAATAAcagttatggctaAGATCGAGACCCGACGC chr14:52494402-Variant-A;Patient-42 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative G ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GGCGGCAATAAC CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAggcggcaataacAGATCGAGACCCGACGC chr14:52506797-Alternative-G;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Reference C ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CAACCTGACCTA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcaacctgacctaAGATCGAGACCCGACGC chr14:52506797-Reference-C;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Reference C ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GCGCATACTCGA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAgcgcatactcgaAGATCGAGACCCGACGC chr14:52506797-Reference-C;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative G ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GTACGGACCACA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAgtacggaccacaAGATCGAGACCCGACGC chr14:52506797-Alternative-G;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Reference C ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CTACGGAAGTAT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAActacggaagtatAGATCGAGACCCGACGC chr14:52506797-Reference-C;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Reference C ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GACTGGATGTTC CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAgactggatgttcAGATCGAGACCCGACGC chr14:52506797-Reference-C;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Reference C ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGTAAGAATCGA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatCgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgtaagaatcgaAGATCGAGACCCGACGC chr14:52506797-Reference-C;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative G ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGTCCTTACATA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgtccttacataAGATCGAGACCCGACGC chr14:52506797-Alternative-G;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Variant T ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGTGCTACCGTT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgtgctaccgttAGATCGAGACCCGACGC chr14:52506797-Variant-T;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Variant T ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GGTGTACTCTAA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAggtgtactctaaAGATCGAGACCCGACGC chr14:52506797-Variant-T;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative A ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGACTACCAACA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgactaccaacaAGATCGAGACCCGACGC chr14:52506797-Alternative-A;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative G ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GTTGACAAGCTA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAgttgacaagctaAGATCGAGACCCGACGC chr14:52506797-Alternative-G;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative G ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa ATCGTGCCGGTT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatGgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAatcgtgccggttAGATCGAGACCCGACGC chr14:52506797-Alternative-G;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative A ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CAGTTGTGGTCG CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcagttgtggtcgAGATCGAGACCCGACGC chr14:52506797-Alternative-A;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Variant T ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGTAAGCGAGAT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgtaagcgagatAGATCGAGACCCGACGC chr14:52506797-Variant-T;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative A ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CACGATCGAGCT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcacgatcgagctAGATCGAGACCCGACGC chr14:52506797-Alternative-A;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative A ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGTTCGAGGTGT CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcgttcgaggtgtAGATCGAGACCCGACGC chr14:52506797-Alternative-A;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Variant T ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa GATAGCGCATTA CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAgatagcgcattaAGATCGAGACCCGACGC chr14:52506797-Variant-T;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Alternative A ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa CGGATTGAGTGG CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatAgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAcggattgagtggAGATCGAGACCCGACGC chr14:52506797-Alternative-A;Patient-55 chr14:52506797-CT Inherited Patient-55 intronic NID2 NA 4.95e-05 -0.24 0.56 -0.58 NID2 29148 Variant T ttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaa AACCGGAGATGG CGACGCGGTCTCTCTCTttcccaggttcagatgattctcctgcctcagcctcccaagtagctgggatTgcaggagcgtgccaccacaccctgctaatttttgtatttttagtagaaaAGAGGGAGACGGACGTCTCAATAAaaccggagatggAGATCGAGACCCGACGC chr14:52506797-Variant-T;Patient-55 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Reference T agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatattt AATAGCCAAGCA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAaatagccaagcaAGATCGAGACCCGACGC chr14:52700793-Reference-T;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Variant G agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatattt GAGATATCGCGG CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgagatatcgcggAGATCGAGACCCGACGC chr14:52700793-Variant-G;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Variant G agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatattt GCATTCAGAATC CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgcattcagaatcAGATCGAGACCCGACGC chr14:52700793-Variant-G;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Reference T agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatattt CTACGGTCCAGA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAActacggtccagaAGATCGAGACCCGACGC chr14:52700793-Reference-T;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative A agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatattt ACCGGTCAACGA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAaccggtcaacgaAGATCGAGACCCGACGC chr14:52700793-Alternative-A;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Reference T agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatattt AGCTAGGAGCGA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAagctaggagcgaAGATCGAGACCCGACGC chr14:52700793-Reference-T;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Variant G agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatattt GCGCGAACTTGT CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgcgcgaacttgtAGATCGAGACCCGACGC chr14:52700793-Variant-G;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Reference T agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatattt AGTGATCGTCTA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAagtgatcgtctaAGATCGAGACCCGACGC chr14:52700793-Reference-T;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Reference T agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatattt AGTACCTGATAC CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgTctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAagtacctgatacAGATCGAGACCCGACGC chr14:52700793-Reference-T;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Variant G agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatattt ACGTGTCGAAGG CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAacgtgtcgaaggAGATCGAGACCCGACGC chr14:52700793-Variant-G;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Variant G agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatattt CTAGCGCGATGA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgGctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAActagcgcgatgaAGATCGAGACCCGACGC chr14:52700793-Variant-G;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative A agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatattt GAGTGCTAGTTA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgagtgctagttaAGATCGAGACCCGACGC chr14:52700793-Alternative-A;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative A agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatattt GATACAACGCGG CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgatacaacgcggAGATCGAGACCCGACGC chr14:52700793-Alternative-A;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative A agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatattt GCATTCTATCGT CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgcattctatcgtAGATCGAGACCCGACGC chr14:52700793-Alternative-A;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative C agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatattt GCCGATAGACAC CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgccgatagacacAGATCGAGACCCGACGC chr14:52700793-Alternative-C;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative A agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatattt GGCTCATCTAGG CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgActgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAggctcatctaggAGATCGAGACCCGACGC chr14:52700793-Alternative-A;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative C agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatattt AACAGCTGTGAA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAaacagctgtgaaAGATCGAGACCCGACGC chr14:52700793-Alternative-C;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative C agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatattt GTACGCTGATAC CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAgtacgctgatacAGATCGAGACCCGACGC chr14:52700793-Alternative-C;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative C agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatattt ACGACCGATTGC CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAacgaccgattgcAGATCGAGACCCGACGC chr14:52700793-Alternative-C;Patient-80 chr14:52700793-TG DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.44 0.14 -5 PTGDR 33637 Alternative C agcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatattt CGCTTCCTTATA CGACGCGGTCTCTCTCTagcactacatctgtcagtcatgccaaaatactaggtagctcccgtggctgCctgtctggtgcctagaatacagcctggctcaggactgcacataatatttAGAGGGAGACGGACGTCTCAATAAcgcttccttataAGATCGAGACCCGACGC chr14:52700793-Alternative-C;Patient-80 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Reference T aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt CAGATAACGAAC CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAcagataacgaacAGATCGAGACCCGACGC chr14:52855559-Reference-T;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Reference T aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GGAAGACTAAGA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAggaagactaagaAGATCGAGACCCGACGC chr14:52855559-Reference-T;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative C aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt ATAACACGCTGT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAataacacgctgtAGATCGAGACCCGACGC chr14:52855559-Alternative-C;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Reference T aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt CTAGGCCAATTA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAActaggccaattaAGATCGAGACCCGACGC chr14:52855559-Reference-T;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Reference T aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt CAAGACCAACCG CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAcaagaccaaccgAGATCGAGACCCGACGC chr14:52855559-Reference-T;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Reference T aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt AGTAGTATCAGG CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagTcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAagtagtatcaggAGATCGAGACCCGACGC chr14:52855559-Reference-T;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative A aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GAGTGTTAGCAT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAgagtgttagcatAGATCGAGACCCGACGC chr14:52855559-Alternative-A;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative C aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GGTCTGTAACTA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAggtctgtaactaAGATCGAGACCCGACGC chr14:52855559-Alternative-C;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative A aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt ACCTACACGTCC CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAacctacacgtccAGATCGAGACCCGACGC chr14:52855559-Alternative-A;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative A aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GTATCGCAGTCG CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAgtatcgcagtcgAGATCGAGACCCGACGC chr14:52855559-Alternative-A;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative C aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt ACTAGTAGGAGT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAactagtaggagtAGATCGAGACCCGACGC chr14:52855559-Alternative-C;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative C aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GTCAATGGCATT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAgtcaatggcattAGATCGAGACCCGACGC chr14:52855559-Alternative-C;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative C aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt CGCCACGCTAAT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagCcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAcgccacgctaatAGATCGAGACCCGACGC chr14:52855559-Alternative-C;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Variant G aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt CGAGATACAACA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAcgagatacaacaAGATCGAGACCCGACGC chr14:52855559-Variant-G;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative A aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GTCCGCGCATTA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAgtccgcgcattaAGATCGAGACCCGACGC chr14:52855559-Alternative-A;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Variant G aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt AGTGATCACGAA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAagtgatcacgaaAGATCGAGACCCGACGC chr14:52855559-Variant-G;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Variant G aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt GTGTAACGTTGT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAgtgtaacgttgtAGATCGAGACCCGACGC chr14:52855559-Variant-G;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Alternative A aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt AGCATACTTCGA CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagAcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAagcatacttcgaAGATCGAGACCCGACGC chr14:52855559-Alternative-A;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Variant G aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt AGGTTGAGACAT CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAaggttgagacatAGATCGAGACCCGACGC chr14:52855559-Variant-G;Patient-8 chr14:52855559-TG Inherited Patient-8 intergenic 0.000263 0.00103 -0.19 0.79 0 PTGER2 74542 Variant G aaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgactt ATCGTCAGGTCG CGACGCGGTCTCTCTCTaaactactttaaagttcatatggaaccaaaaaagagcccgcatcgccaagGcaatcctaagccaaaagaacaaagctggaggcatcatgctacctgacttAGAGGGAGACGGACGTCTCAATAAatcgtcaggtcgAGATCGAGACCCGACGC chr14:52855559-Variant-G;Patient-8 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Variant A gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccg GGTTCTACTCTA CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAggttctactctaAGATCGAGACCCGACGC chr14:54423374-Variant-A;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Reference G gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccg GCATCTACGACG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAgcatctacgacgAGATCGAGACCCGACGC chr14:54423374-Reference-G;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative T gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccg CTGGTAGAGCGA CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAActggtagagcgaAGATCGAGACCCGACGC chr14:54423374-Alternative-T;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Reference G gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccg GTCTCGACCTGT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAgtctcgacctgtAGATCGAGACCCGACGC chr14:54423374-Reference-G;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative T gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccg GCGACCGATTCA CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAgcgaccgattcaAGATCGAGACCCGACGC chr14:54423374-Alternative-T;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative T gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccg AGGCGTCTACAG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAaggcgtctacagAGATCGAGACCCGACGC chr14:54423374-Alternative-T;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative T gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccg CGTTGACGCTTC CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAcgttgacgcttcAGATCGAGACCCGACGC chr14:54423374-Alternative-T;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative T gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccg CGTTATAAGCCA CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaTatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAcgttataagccaAGATCGAGACCCGACGC chr14:54423374-Alternative-T;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Reference G gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccg GTAACTAACGGT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAgtaactaacggtAGATCGAGACCCGACGC chr14:54423374-Reference-G;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Reference G gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccg ATTCTCGACCAC CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAattctcgaccacAGATCGAGACCCGACGC chr14:54423374-Reference-G;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Variant A gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccg AACAGCGTTAAG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAaacagcgttaagAGATCGAGACCCGACGC chr14:54423374-Variant-A;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Variant A gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccg GGTCGTGAGCTT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAggtcgtgagcttAGATCGAGACCCGACGC chr14:54423374-Variant-A;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Reference G gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccg ACGTAAGGCCGA CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaGatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAacgtaaggccgaAGATCGAGACCCGACGC chr14:54423374-Reference-G;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Variant A gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccg CGAGAGCATACG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAcgagagcatacgAGATCGAGACCCGACGC chr14:54423374-Variant-A;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative C gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccg AGCAGTCGTATT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAagcagtcgtattAGATCGAGACCCGACGC chr14:54423374-Alternative-C;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Variant A gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccg CGATTGGTTAGT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaAatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAcgattggttagtAGATCGAGACCCGACGC chr14:54423374-Variant-A;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative C gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccg CGTCGTCCAACT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAcgtcgtccaactAGATCGAGACCCGACGC chr14:54423374-Alternative-C;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative C gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccg AACTAGTCGACT CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAaactagtcgactAGATCGAGACCCGACGC chr14:54423374-Alternative-C;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative C gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccg GGTGAATCAGCG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAggtgaatcagcgAGATCGAGACCCGACGC chr14:54423374-Alternative-C;Patient-84 chr14:54423374-GA Inherited Patient-84 5 prime UTR BMP4 NA 0.00016 2.11 20.5 4.17 BMP4 179 Alternative C gttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccg ATCCTGGTTAAG CGACGCGGTCTCTCTCTgttgcagtgaacctgggcgagggccggggactgtggcgctgcaggctcgaCatagcttggacgggaatcccatcggggagacaagctagatactcagccgAGAGGGAGACGGACGTCTCAATAAatcctggttaagAGATCGAGACCCGACGC chr14:54423374-Alternative-C;Patient-84 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative C agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GGTGATTCTTGA CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAggtgattcttgaAGATCGAGACCCGACGC chr14:57725002-Alternative-C;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative C agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg AGTAAGGCCGCT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAagtaaggccgctAGATCGAGACCCGACGC chr14:57725002-Alternative-C;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Variant A agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ATTCCGTGACGC CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAattccgtgacgcAGATCGAGACCCGACGC chr14:57725002-Variant-A;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Variant A agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GTAATCTGACGT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAgtaatctgacgtAGATCGAGACCCGACGC chr14:57725002-Variant-A;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative C agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg CGGACAACGAGA CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAcggacaacgagaAGATCGAGACCCGACGC chr14:57725002-Alternative-C;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative C agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GTTGAGCGACAG CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAgttgagcgacagAGATCGAGACCCGACGC chr14:57725002-Alternative-C;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Variant A agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GCGGCTATATCG CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAgcggctatatcgAGATCGAGACCCGACGC chr14:57725002-Variant-A;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative C agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg CTTGAAGCGTAT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaCttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAActtgaagcgtatAGATCGAGACCCGACGC chr14:57725002-Alternative-C;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative G agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ACCTACGGCACA CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAacctacggcacaAGATCGAGACCCGACGC chr14:57725002-Alternative-G;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Variant A agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg CATTAATGACCG CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAcattaatgaccgAGATCGAGACCCGACGC chr14:57725002-Variant-A;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Variant A agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ACGTCTTGTCAT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaAttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAacgtcttgtcatAGATCGAGACCCGACGC chr14:57725002-Variant-A;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Reference T agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GGACGATTCTAT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAggacgattctatAGATCGAGACCCGACGC chr14:57725002-Reference-T;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Reference T agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg CACTAGGCGGAT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAcactaggcggatAGATCGAGACCCGACGC chr14:57725002-Reference-T;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Reference T agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ATAACATCGTCG CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAataacatcgtcgAGATCGAGACCCGACGC chr14:57725002-Reference-T;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative G agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GTGACTTCAGAT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAgtgacttcagatAGATCGAGACCCGACGC chr14:57725002-Alternative-G;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Reference T agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ACGTTACCGAAC CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAacgttaccgaacAGATCGAGACCCGACGC chr14:57725002-Reference-T;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Reference T agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg GATTCACGTAAG CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaTttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAgattcacgtaagAGATCGAGACCCGACGC chr14:57725002-Reference-T;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative G agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ACGAACATGTGA CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAacgaacatgtgaAGATCGAGACCCGACGC chr14:57725002-Alternative-G;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative G agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg ATACGGAAGCCA CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAAatacggaagccaAGATCGAGACCCGACGC chr14:57725002-Alternative-G;Patient-87 chr14:57725002-TA Inherited Patient-87 intronic EXOC5 0.000765 4.95e-05 -0.19 0.78 -0.47 AP5M1 10603 Alternative G agacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatg CTGAATAGGAGT CGACGCGGTCTCTCTCTagacacatgcacacgtacgtttactgcagcactattcataatagcaaagaGttggaaccaacccaaatgcccatcaatgatagactggataaagaaaatgAGAGGGAGACGGACGTCTCAATAActgaataggagtAGATCGAGACCCGACGC chr14:57725002-Alternative-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Variant G gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CAATAAGACGCA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAcaataagacgcaAGATCGAGACCCGACGC chr14:59613889-Variant-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative T gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat GGCTTGTTAAGA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAggcttgttaagaAGATCGAGACCCGACGC chr14:59613889-Alternative-T;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative T gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AAGGTGTCACCA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAaaggtgtcaccaAGATCGAGACCCGACGC chr14:59613889-Alternative-T;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative T gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AGGCTCTGAACC CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAaggctctgaaccAGATCGAGACCCGACGC chr14:59613889-Alternative-T;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Variant G gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat GCAGCAACGCTT CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAgcagcaacgcttAGATCGAGACCCGACGC chr14:59613889-Variant-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative T gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CTACGAAGGCCA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAActacgaaggccaAGATCGAGACCCGACGC chr14:59613889-Alternative-T;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative T gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AGTTGTGGTAAC CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagTtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAagttgtggtaacAGATCGAGACCCGACGC chr14:59613889-Alternative-T;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Reference A gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat GTTGGATCGCAC CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAgttggatcgcacAGATCGAGACCCGACGC chr14:59613889-Reference-A;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Reference A gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CGGCTTGTCTGA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAcggcttgtctgaAGATCGAGACCCGACGC chr14:59613889-Reference-A;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Reference A gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat ACGCAATAGCAA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAacgcaatagcaaAGATCGAGACCCGACGC chr14:59613889-Reference-A;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Reference A gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat ACAACAGCATTC CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAacaacagcattcAGATCGAGACCCGACGC chr14:59613889-Reference-A;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Variant G gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CTGCTCAGTAGG CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAActgctcagtaggAGATCGAGACCCGACGC chr14:59613889-Variant-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Variant G gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CTAGGCCATATA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAActaggccatataAGATCGAGACCCGACGC chr14:59613889-Variant-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Reference A gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AAGGCCGGCATA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagAtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAaaggccggcataAGATCGAGACCCGACGC chr14:59613889-Reference-A;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative C gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat GACGCTCGACAT CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAgacgctcgacatAGATCGAGACCCGACGC chr14:59613889-Alternative-C;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative C gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AAGACCGTCTGG CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAaagaccgtctggAGATCGAGACCCGACGC chr14:59613889-Alternative-C;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative C gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CGGACGATACGA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAcggacgatacgaAGATCGAGACCCGACGC chr14:59613889-Alternative-C;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Variant G gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat CGTACGTTCAGG CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagGtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAcgtacgttcaggAGATCGAGACCCGACGC chr14:59613889-Variant-G;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative C gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat GAGCACACATAA CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAgagcacacataaAGATCGAGACCCGACGC chr14:59613889-Alternative-C;Patient-87 chr14:59613889-AG Inherited Patient-87 intergenic NA 0.000513 0.91 12.7 -1.48 DAAM1 41491 Alternative C gagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcat AAGGTTGCGAGT CGACGCGGTCTCTCTCTgagggctctttaaagttggaaagccatttagtttgaaggcctcagaggagCtgacttcaacaacagcagttgaaacagaaggaaaaaaaaaccttttcatAGAGGGAGACGGACGTCTCAATAAaaggttgcgagtAGATCGAGACCCGACGC chr14:59613889-Alternative-C;Patient-87 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative C agataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GGCTGATCATGC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAggctgatcatgcAGATCGAGACCCGACGC chr14:61137270-Alternative-C;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Variant G agataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataattt CTGGTGTGATTA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAActggtgtgattaAGATCGAGACCCGACGC chr14:61137270-Variant-G;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Variant G agataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataattt CATTATCCTGAC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAcattatcctgacAGATCGAGACCCGACGC chr14:61137270-Variant-G;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Variant G agataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataattt AACGCGAGGTAC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAaacgcgaggtacAGATCGAGACCCGACGC chr14:61137270-Variant-G;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative C agataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataattt CGCGAGGTACTT CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAcgcgaggtacttAGATCGAGACCCGACGC chr14:61137270-Alternative-C;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative C agataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GCATGTCTCTTA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgcatgtctcttaAGATCGAGACCCGACGC chr14:61137270-Alternative-C;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative C agataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GTCTCGAATTGT CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgtctcgaattgtAGATCGAGACCCGACGC chr14:61137270-Alternative-C;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Reference A agataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GACCGCTTAACG CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgaccgcttaacgAGATCGAGACCCGACGC chr14:61137270-Reference-A;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Variant G agataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GTTAGACCTCAA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgttagacctcaaAGATCGAGACCCGACGC chr14:61137270-Variant-G;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Variant G agataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataattt AGATAACACGAC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctGtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAagataacacgacAGATCGAGACCCGACGC chr14:61137270-Variant-G;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Reference A agataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GTCTCGCGGATA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgtctcgcggataAGATCGAGACCCGACGC chr14:61137270-Reference-A;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Reference A agataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataattt AAGTAAGCCGAC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAaagtaagccgacAGATCGAGACCCGACGC chr14:61137270-Reference-A;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Reference A agataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GCCGTCGTTCAT CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgccgtcgttcatAGATCGAGACCCGACGC chr14:61137270-Reference-A;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative C agataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataattt CATTCGCTTCAA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctCtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAcattcgcttcaaAGATCGAGACCCGACGC chr14:61137270-Alternative-C;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative T agataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GTATCTGACTTC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgtatctgacttcAGATCGAGACCCGACGC chr14:61137270-Alternative-T;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Reference A agataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GCCAATAACACT CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctAtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAgccaataacactAGATCGAGACCCGACGC chr14:61137270-Reference-A;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative T agataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataattt AATAGCGATGCA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAaatagcgatgcaAGATCGAGACCCGACGC chr14:61137270-Alternative-T;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative T agataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataattt ATCCGGCGTATC CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAatccggcgtatcAGATCGAGACCCGACGC chr14:61137270-Alternative-T;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative T agataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataattt GGTGGAATCCGA CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAggtggaatccgaAGATCGAGACCCGACGC chr14:61137270-Alternative-T;Patient-30 chr14:61137270-AG Inherited Patient-30 intergenic NA 0.000513 NA NA NA MNAT1 64188 Alternative T agataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataattt CGATTAGACGAG CGACGCGGTCTCTCTCTagataattatatggttttctttgataaaccatagttggtaatgatgtgctTtcttttttatttctctgtattcaacttgctaatgttgtatttataatttAGAGGGAGACGGACGTCTCAATAAcgattagacgagAGATCGAGACCCGACGC chr14:61137270-Alternative-T;Patient-30 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Reference C caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa GCCGACACATTA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAgccgacacattaAGATCGAGACCCGACGC chr14:63708442-Reference-C;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative G caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa GACATCGCACAC CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAgacatcgcacacAGATCGAGACCCGACGC chr14:63708442-Alternative-G;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative A caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CTGTGTGCCGAT CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAActgtgtgccgatAGATCGAGACCCGACGC chr14:63708442-Alternative-A;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative G caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGTAATGCTCGG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcgtaatgctcggAGATCGAGACCCGACGC chr14:63708442-Alternative-G;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Reference C caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa ATAGCGTGCTAA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAatagcgtgctaaAGATCGAGACCCGACGC chr14:63708442-Reference-C;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative A caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CATGCGGCTTGT CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcatgcggcttgtAGATCGAGACCCGACGC chr14:63708442-Alternative-A;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Reference C caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CTCAATAACACG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAActcaataacacgAGATCGAGACCCGACGC chr14:63708442-Reference-C;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative A caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CACAATAGCGCG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcacaatagcgcgAGATCGAGACCCGACGC chr14:63708442-Alternative-A;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative A caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGGATTGTTAAG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcggattgttaagAGATCGAGACCCGACGC chr14:63708442-Alternative-A;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Variant T caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CTTGACCTCCGA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAActtgacctccgaAGATCGAGACCCGACGC chr14:63708442-Variant-T;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Variant T caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGCTAGATGCAC CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcgctagatgcacAGATCGAGACCCGACGC chr14:63708442-Variant-T;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative G caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa ACATCATTCCGT CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAacatcattccgtAGATCGAGACCCGACGC chr14:63708442-Alternative-G;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Reference C caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa ATAAGCGAGCCA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAataagcgagccaAGATCGAGACCCGACGC chr14:63708442-Reference-C;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Variant T caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGTGCGTTGGAA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcgtgcgttggaaAGATCGAGACCCGACGC chr14:63708442-Variant-T;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Variant T caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGATGAGTACGG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcgatgagtacggAGATCGAGACCCGACGC chr14:63708442-Variant-T;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Reference C caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa GGCTGACGAGAT CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggCgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAggctgacgagatAGATCGAGACCCGACGC chr14:63708442-Reference-C;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative A caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa AACGACAGATCA CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggAgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAaacgacagatcaAGATCGAGACCCGACGC chr14:63708442-Alternative-A;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative G caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CGGATATTCCGG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAcggatattccggAGATCGAGACCCGACGC chr14:63708442-Alternative-G;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Variant T caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa GAATCGGCTACC CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggTgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAAgaatcggctaccAGATCGAGACCCGACGC chr14:63708442-Variant-T;Patient-28 chr14:63708442-CT DeNovo Patient-28 intronic RHOJ 3.2e-05 4.95e-05 -0.11 1.29 -2.19 RHOJ 37339 Alternative G caccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaa CTGAACGCATCG CGACGCGGTCTCTCTCTcaccagagccaactgggaagtcagcctaaggcctgcagggtatctgaaggGgcaaagccccatcggcactggttgatccagtagcaaaatgtcaaactaaAGAGGGAGACGGACGTCTCAATAActgaacgcatcgAGATCGAGACCCGACGC chr14:63708442-Alternative-G;Patient-28 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative G cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GAGATACGATAC CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgagatacgatacAGATCGAGACCCGACGC chr14:64119684-Alternative-G;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative G cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GGACCGGATCAT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAggaccggatcatAGATCGAGACCCGACGC chr14:64119684-Alternative-G;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative G cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc AGGCGCGATATC CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAaggcgcgatatcAGATCGAGACCCGACGC chr14:64119684-Alternative-G;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative G cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc CGGACAGCTTCT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAcggacagcttctAGATCGAGACCCGACGC chr14:64119684-Alternative-G;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Variant T cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc ACGAAGAATCGA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAacgaagaatcgaAGATCGAGACCCGACGC chr14:64119684-Variant-T;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Variant T cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc AGCTAAGCTTCG CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAagctaagcttcgAGATCGAGACCCGACGC chr14:64119684-Variant-T;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Variant T cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GTCGTTCATACT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgtcgttcatactAGATCGAGACCCGACGC chr14:64119684-Variant-T;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative G cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc AACGATTCGAGA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagGtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAaacgattcgagaAGATCGAGACCCGACGC chr14:64119684-Alternative-G;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Variant T cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GGTGAGGTTATA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAggtgaggttataAGATCGAGACCCGACGC chr14:64119684-Variant-T;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Variant T cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc AGAACGATAGCG CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagTtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAagaacgatagcgAGATCGAGACCCGACGC chr14:64119684-Variant-T;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative A cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GCAGCAGTGAAC CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgcagcagtgaacAGATCGAGACCCGACGC chr14:64119684-Alternative-A;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative A cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc ATTCGACGAACG CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAattcgacgaacgAGATCGAGACCCGACGC chr14:64119684-Alternative-A;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative A cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc CGTTATTACCGT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAcgttattaccgtAGATCGAGACCCGACGC chr14:64119684-Alternative-A;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Reference C cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GACGGAAGCCAA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgacggaagccaaAGATCGAGACCCGACGC chr14:64119684-Reference-C;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative A cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GCGAATCTCCGT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgcgaatctccgtAGATCGAGACCCGACGC chr14:64119684-Alternative-A;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Reference C cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GGTCAATAACAG CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAggtcaataacagAGATCGAGACCCGACGC chr14:64119684-Reference-C;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Alternative A cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc CGTGTTCAATGA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagAtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAcgtgttcaatgaAGATCGAGACCCGACGC chr14:64119684-Alternative-A;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Reference C cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc GCACGATTGACA CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAgcacgattgacaAGATCGAGACCCGACGC chr14:64119684-Reference-C;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Reference C cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc CGTTGCCTCGAT CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAcgttgcctcgatAGATCGAGACCCGACGC chr14:64119684-Reference-C;Patient-35 chr14:64119684-CT DeNovo Patient-35 intergenic 6.4e-05 0.000512821 -0.03 2.16 0.42 SGPP1 75071 Reference C cagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagcc CGAATAGGAACG CGACGCGGTCTCTCTCTcagagtttcactcttgttgcccaggctggagtacaatggtgtgatctcagCtcactgcaccctccacctcccaggttcaagtgattctcctgtctcagccAGAGGGAGACGGACGTCTCAATAAcgaataggaacgAGATCGAGACCCGACGC chr14:64119684-Reference-C;Patient-35 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Reference G tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccact AATGAGGCGGCA CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAaatgaggcggcaAGATCGAGACCCGACGC chr14:64715137-Reference-G;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Variant A tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CGGATTGACAGG CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAcggattgacaggAGATCGAGACCCGACGC chr14:64715137-Variant-A;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative T tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GATGAAGCCGAT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAgatgaagccgatAGATCGAGACCCGACGC chr14:64715137-Alternative-T;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Variant A tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GGACGCGAGATT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAggacgcgagattAGATCGAGACCCGACGC chr14:64715137-Variant-A;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Variant A tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CTGAGTAGATAC CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAActgagtagatacAGATCGAGACCCGACGC chr14:64715137-Variant-A;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative C tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccact AGCGTAGAAGAT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAagcgtagaagatAGATCGAGACCCGACGC chr14:64715137-Alternative-C;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Reference G tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GACGTTATTCGC CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAgacgttattcgcAGATCGAGACCCGACGC chr14:64715137-Reference-G;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative T tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccact AGGCAGTAACCT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAaggcagtaacctAGATCGAGACCCGACGC chr14:64715137-Alternative-T;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative C tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CGACTTGCAATA CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAcgacttgcaataAGATCGAGACCCGACGC chr14:64715137-Alternative-C;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Reference G tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CGAGAGTTGTGG CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAcgagagttgtggAGATCGAGACCCGACGC chr14:64715137-Reference-G;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative C tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccact AGAGTGTGAACC CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAagagtgtgaaccAGATCGAGACCCGACGC chr14:64715137-Alternative-C;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative T tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccact ACCTAATGCGAT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAacctaatgcgatAGATCGAGACCCGACGC chr14:64715137-Alternative-T;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative T tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccact ACTTGGTCTAAG CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAacttggtctaagAGATCGAGACCCGACGC chr14:64715137-Alternative-T;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative C tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GTCGCCGTGAAT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAgtcgccgtgaatAGATCGAGACCCGACGC chr14:64715137-Alternative-C;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Variant A tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GATGCTCAACTA CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAgatgctcaactaAGATCGAGACCCGACGC chr14:64715137-Variant-A;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative C tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GGTTCCGGTAGA CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaCgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAggttccggtagaAGATCGAGACCCGACGC chr14:64715137-Alternative-C;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Alternative T tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccact AATGGCGCCAAC CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaTgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAaatggcgccaacAGATCGAGACCCGACGC chr14:64715137-Alternative-T;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Variant A tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CGTAGTACAGAA CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaAgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAcgtagtacagaaAGATCGAGACCCGACGC chr14:64715137-Variant-A;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Reference G tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccact GGCTGATGGCTT CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAAggctgatggcttAGATCGAGACCCGACGC chr14:64715137-Reference-G;Patient-87 chr14:64715137-GA Inherited Patient-87 intronic ESR2 0.000688 9.9e-05 0.03 3.16 0.43 ESR2 90130 Reference G tctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccact CTTGACATCTGG CGACGCGGTCTCTCTCTtctggtggtatgcacctgtattccaagctacttgtgaggccaaggtgggaGgatcacttgagctcagtactaggttacagtgagctatgatcatgccactAGAGGGAGACGGACGTCTCAATAActtgacatctggAGATCGAGACCCGACGC chr14:64715137-Reference-G;Patient-87 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Reference A agagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CAATGTCGGTAC CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAcaatgtcggtacAGATCGAGACCCGACGC chr14:64910753-Reference-A;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Reference A agagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg GTATAGCATTCG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAgtatagcattcgAGATCGAGACCCGACGC chr14:64910753-Reference-A;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative C agagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CTGGCCTCTTGT CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAActggcctcttgtAGATCGAGACCCGACGC chr14:64910753-Alternative-C;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative C agagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg GAGTATCGCGAG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAgagtatcgcgagAGATCGAGACCCGACGC chr14:64910753-Alternative-C;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative C agagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CAGCAGCTTACG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAcagcagcttacgAGATCGAGACCCGACGC chr14:64910753-Alternative-C;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative C agagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg GTCGCGAATCGT CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAgtcgcgaatcgtAGATCGAGACCCGACGC chr14:64910753-Alternative-C;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative T agagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CTATTCGAGGCG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAActattcgaggcgAGATCGAGACCCGACGC chr14:64910753-Alternative-T;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative C agagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ACACCTCGACAT CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgCaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAacacctcgacatAGATCGAGACCCGACGC chr14:64910753-Alternative-C;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative T agagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg AATACCGCCAAC CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAaataccgccaacAGATCGAGACCCGACGC chr14:64910753-Alternative-T;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Reference A agagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CACTTAACGCGG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAcacttaacgcggAGATCGAGACCCGACGC chr14:64910753-Reference-A;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Variant G agagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ACGCTAATGTTC CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAacgctaatgttcAGATCGAGACCCGACGC chr14:64910753-Variant-G;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative T agagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg AGGTACGTCGTC CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAaggtacgtcgtcAGATCGAGACCCGACGC chr14:64910753-Alternative-T;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Variant G agagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ATATACGTTCGC CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAatatacgttcgcAGATCGAGACCCGACGC chr14:64910753-Variant-G;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Variant G agagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ATATGGTGGTCG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAatatggtggtcgAGATCGAGACCCGACGC chr14:64910753-Variant-G;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative T agagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ACTAAGGAGGTT CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAactaaggaggttAGATCGAGACCCGACGC chr14:64910753-Alternative-T;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Reference A agagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg AGCGTAAGGTCG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAagcgtaaggtcgAGATCGAGACCCGACGC chr14:64910753-Reference-A;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Variant G agagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg ACCTAGGTAACG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAacctaggtaacgAGATCGAGACCCGACGC chr14:64910753-Variant-G;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Alternative T agagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg CTTGGATCGACG CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgTaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAActtggatcgacgAGATCGAGACCCGACGC chr14:64910753-Alternative-T;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Variant G agagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg AACGATCGTAGA CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgGaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAaacgatcgtagaAGATCGAGACCCGACGC chr14:64910753-Variant-G;Patient-89 chr14:64910753-AG Inherited Patient-89 intronic MTHFD1 0.000319 4.95e-05 -0.11 1.31 -2.39 AKAP5 21463 Reference A agagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctg GGTGGTGGACTA CGACGCGGTCTCTCTCTagagggcagagcttcttaatcactatccactgcccatggtggggcccatgAaatggacaccttcacccatttgctcatttctgtggatgcagcagggctgAGAGGGAGACGGACGTCTCAATAAggtggtggactaAGATCGAGACCCGACGC chr14:64910753-Reference-A;Patient-89 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative C ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc GGATCGATATCA CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAggatcgatatcaAGATCGAGACCCGACGC chr14:65261062-Alternative-C;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Variant G ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CTCGTTAACGTT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAActcgttaacgttAGATCGAGACCCGACGC chr14:65261062-Variant-G;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Reference T ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CTTGCCGATGTT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAActtgccgatgttAGATCGAGACCCGACGC chr14:65261062-Reference-T;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Reference T ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ATCATCCGTAGT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAatcatccgtagtAGATCGAGACCCGACGC chr14:65261062-Reference-T;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative A ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CTGCGAAGATGG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAActgcgaagatggAGATCGAGACCCGACGC chr14:65261062-Alternative-A;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative C ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ACGTGGAATTCT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAacgtggaattctAGATCGAGACCCGACGC chr14:65261062-Alternative-C;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative C ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc AGCAGACGAAGG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAagcagacgaaggAGATCGAGACCCGACGC chr14:65261062-Alternative-C;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative C ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ACCGATTACGAC CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAaccgattacgacAGATCGAGACCCGACGC chr14:65261062-Alternative-C;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative A ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CACTTATTGCAC CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAcacttattgcacAGATCGAGACCCGACGC chr14:65261062-Alternative-A;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Reference T ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ATTGGTAGGCTT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAattggtaggcttAGATCGAGACCCGACGC chr14:65261062-Reference-T;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Variant G ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ACGAAGGTTGGT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAacgaaggttggtAGATCGAGACCCGACGC chr14:65261062-Variant-G;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative A ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc GATAGAACGCTA CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAgatagaacgctaAGATCGAGACCCGACGC chr14:65261062-Alternative-A;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Reference T ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc AGCTTGGTTAAG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAagcttggttaagAGATCGAGACCCGACGC chr14:65261062-Reference-T;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Variant G ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CACTGTCGGTCT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAcactgtcggtctAGATCGAGACCCGACGC chr14:65261062-Variant-G;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Reference T ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CGTTCGGAATAT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatTacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAcgttcggaatatAGATCGAGACCCGACGC chr14:65261062-Reference-T;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Variant G ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc CAACAACGACCG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAcaacaacgaccgAGATCGAGACCCGACGC chr14:65261062-Variant-G;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Variant G ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc GACAGTTCCAAG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatGacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAgacagttccaagAGATCGAGACCCGACGC chr14:65261062-Variant-G;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative C ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc GGTAAGGATCAT CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatCacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAggtaaggatcatAGATCGAGACCCGACGC chr14:65261062-Alternative-C;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative A ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc GGCGATCTACAG CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAggcgatctacagAGATCGAGACCCGACGC chr14:65261062-Alternative-A;Patient-51 chr14:65261062-TG DeNovo Patient-51 intronic SPTB NA 9.9e-05 0.07 3.78 -1.63 SPTB 28803 Alternative A ctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatcc ATTGCAGGCGTC CGACGCGGTCTCTCTCTctgctctctagagaatttggctggtccctcaagcttctttcttggaccatAacttgatgaaagtaacagaactttaaagttggttccaggagatttatccAGAGGGAGACGGACGTCTCAATAAattgcaggcgtcAGATCGAGACCCGACGC chr14:65261062-Alternative-A;Patient-51 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative C ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattcta GAGGTTGTGTAA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgaggttgtgtaaAGATCGAGACCCGACGC chr14:66939076-Alternative-C;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative C ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattcta GAGGTGATAGAA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgaggtgatagaaAGATCGAGACCCGACGC chr14:66939076-Alternative-C;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Reference G ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattcta ATTCGCGTCATT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAattcgcgtcattAGATCGAGACCCGACGC chr14:66939076-Reference-G;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Reference G ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattcta CGTGCGGAACAT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcgtgcggaacatAGATCGAGACCCGACGC chr14:66939076-Reference-G;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative C ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattcta GGTCGAGTATGG CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAggtcgagtatggAGATCGAGACCCGACGC chr14:66939076-Alternative-C;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative C ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattcta CATCGTCGATAA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcatcgtcgataaAGATCGAGACCCGACGC chr14:66939076-Alternative-C;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Reference G ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattcta CTATAAGGATCG CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAActataaggatcgAGATCGAGACCCGACGC chr14:66939076-Reference-G;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Reference G ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattcta CACGTAAGTGTT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcacgtaagtgttAGATCGAGACCCGACGC chr14:66939076-Reference-G;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative C ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattcta GCGGAATATAGA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgCtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgcggaatatagaAGATCGAGACCCGACGC chr14:66939076-Alternative-C;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative T ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattcta GACCGCAATTGA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgaccgcaattgaAGATCGAGACCCGACGC chr14:66939076-Alternative-T;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative T ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattcta CTCTGGTCGACT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAActctggtcgactAGATCGAGACCCGACGC chr14:66939076-Alternative-T;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative T ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattcta ATAGAGAGTAGG CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAatagagagtaggAGATCGAGACCCGACGC chr14:66939076-Alternative-T;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Variant A ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattcta CTACGAATGCGG CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAActacgaatgcggAGATCGAGACCCGACGC chr14:66939076-Variant-A;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Variant A ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattcta CACGCTAGTACC CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcacgctagtaccAGATCGAGACCCGACGC chr14:66939076-Variant-A;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Variant A ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattcta CGATGTACTCAA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcgatgtactcaaAGATCGAGACCCGACGC chr14:66939076-Variant-A;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Variant A ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattcta GCGTTCATTCGG CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgcgttcattcggAGATCGAGACCCGACGC chr14:66939076-Variant-A;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative T ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattcta CACACGATGACT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAcacacgatgactAGATCGAGACCCGACGC chr14:66939076-Alternative-T;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Reference G ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattcta GCGGCGCAATTA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgGtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgcggcgcaattaAGATCGAGACCCGACGC chr14:66939076-Reference-G;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Variant A ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattcta CTAGACAATGCT CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgAtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAActagacaatgctAGATCGAGACCCGACGC chr14:66939076-Variant-A;Patient-54 chr14:66939076-GA Inherited Patient-54 intergenic 0.000159 0.001025641 0.84 12.17 -0.23 GPHN 35048 Alternative T ttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattcta GCGCGATATCGA CGACGCGGTCTCTCTCTttgctgtggcctaccaaataagaatcaaaataccattctcctagtatttgTtaactgaacatccttggactggaggttgaaaggagctaatattattctaAGAGGGAGACGGACGTCTCAATAAgcgcgatatcgaAGATCGAGACCCGACGC chr14:66939076-Alternative-T;Patient-54 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Variant T tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca AACTCGTGGTTA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAaactcgtggttaAGATCGAGACCCGACGC chr14:67825712-Variant-T;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Variant T tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CAAGCTCTAACA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAcaagctctaacaAGATCGAGACCCGACGC chr14:67825712-Variant-T;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Variant T tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GAGCAGTAGCGT CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgagcagtagcgtAGATCGAGACCCGACGC chr14:67825712-Variant-T;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Variant T tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CAACGTTGGTCA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAcaacgttggtcaAGATCGAGACCCGACGC chr14:67825712-Variant-T;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative G tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GATGTTGGCGGT CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgatgttggcggtAGATCGAGACCCGACGC chr14:67825712-Alternative-G;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative G tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca AACCGCATCCGA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAaaccgcatccgaAGATCGAGACCCGACGC chr14:67825712-Alternative-G;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative G tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CGTATGAACATC CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAcgtatgaacatcAGATCGAGACCCGACGC chr14:67825712-Alternative-G;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative G tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CTAGTTACGCGG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAActagttacgcggAGATCGAGACCCGACGC chr14:67825712-Alternative-G;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative G tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GCGATCGGTATA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaGaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgcgatcggtataAGATCGAGACCCGACGC chr14:67825712-Alternative-G;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Reference C tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca AACAGCTACGAA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAaacagctacgaaAGATCGAGACCCGACGC chr14:67825712-Reference-C;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Reference C tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca ACGAGTAGATGG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAacgagtagatggAGATCGAGACCCGACGC chr14:67825712-Reference-C;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Reference C tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CTAAGACCGTGC CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAActaagaccgtgcAGATCGAGACCCGACGC chr14:67825712-Reference-C;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Reference C tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GGTAAGCCGTGT CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAggtaagccgtgtAGATCGAGACCCGACGC chr14:67825712-Reference-C;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Reference C tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GTAGGAGTAGCG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaCaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgtaggagtagcgAGATCGAGACCCGACGC chr14:67825712-Reference-C;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative A tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca AGGAGTTCACTT CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAaggagttcacttAGATCGAGACCCGACGC chr14:67825712-Alternative-A;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative A tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GCAATGCGACAG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgcaatgcgacagAGATCGAGACCCGACGC chr14:67825712-Alternative-A;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative A tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca AGTACAAGGACG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAagtacaaggacgAGATCGAGACCCGACGC chr14:67825712-Alternative-A;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative A tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca GACCGTGCTAGA CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAgaccgtgctagaAGATCGAGACCCGACGC chr14:67825712-Alternative-A;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Alternative A tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CTGAATGCGCAG CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaAaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAActgaatgcgcagAGATCGAGACCCGACGC chr14:67825712-Alternative-A;Patient-30 chr14:67825712-CT Inherited Patient-30 intronic ATP6V1D 0.000988 9.9e-05 NA NA NA ATP6V1D 1007 Variant T tttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaaca CGAATTAATCGC CGACGCGGTCTCTCTCTtttcatcctggagagagcccacagtctagtgggagagaaagacacataaaTaaatatctactttacagcgtgatgaccggtattaacacaggtctgaacaAGAGGGAGACGGACGTCTCAATAAcgaattaatcgcAGATCGAGACCCGACGC chr14:67825712-Variant-T;Patient-30 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative G taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GACTATAGGCGG CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgactataggcggAGATCGAGACCCGACGC chr14:68128079-Alternative-G;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative G taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt CGTGAGCTACGA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAcgtgagctacgaAGATCGAGACCCGACGC chr14:68128079-Alternative-G;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative G taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GTTGTAGTCCGG CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgttgtagtccggAGATCGAGACCCGACGC chr14:68128079-Alternative-G;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative G taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GCAACTGAACGG CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgcaactgaacggAGATCGAGACCCGACGC chr14:68128079-Alternative-G;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative G taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt CGAGCGCTCTAA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaGggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAcgagcgctctaaAGATCGAGACCCGACGC chr14:68128079-Alternative-G;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Variant T taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt CTCGCGTACTGA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAActcgcgtactgaAGATCGAGACCCGACGC chr14:68128079-Variant-T;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Variant T taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GACATCGCGTCT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgacatcgcgtctAGATCGAGACCCGACGC chr14:68128079-Variant-T;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Variant T taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GCCAACACGGAA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgccaacacggaaAGATCGAGACCCGACGC chr14:68128079-Variant-T;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Reference C taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt ACATATAGGCCT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAacatataggcctAGATCGAGACCCGACGC chr14:68128079-Reference-C;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Reference C taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt AGGCGACACCAT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAaggcgacaccatAGATCGAGACCCGACGC chr14:68128079-Reference-C;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Reference C taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt AACAGGCGTATA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAaacaggcgtataAGATCGAGACCCGACGC chr14:68128079-Reference-C;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative A taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt AGCCGATATTCT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAagccgatattctAGATCGAGACCCGACGC chr14:68128079-Alternative-A;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Variant T taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt ATCTTAAGGCGC CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAatcttaaggcgcAGATCGAGACCCGACGC chr14:68128079-Variant-T;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative A taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt ATCGCATCAACT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAatcgcatcaactAGATCGAGACCCGACGC chr14:68128079-Alternative-A;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative A taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt CGTACCACGATA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAcgtaccacgataAGATCGAGACCCGACGC chr14:68128079-Alternative-A;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Variant T taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt ATTGCGTGCACA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaTggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAattgcgtgcacaAGATCGAGACCCGACGC chr14:68128079-Variant-T;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative A taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GAGAGCGATTCG CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAgagagcgattcgAGATCGAGACCCGACGC chr14:68128079-Alternative-A;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Alternative A taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt AGGCGTGAGACA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaAggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAaggcgtgagacaAGATCGAGACCCGACGC chr14:68128079-Alternative-A;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Reference C taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt ACTCTGAGGCGA CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAactctgaggcgaAGATCGAGACCCGACGC chr14:68128079-Reference-C;Patient-59 chr14:68128079-CT Inherited Patient-59 intronic VTI1B 0.000102 4.95e-05 0.27 6.84 0.41 VTI1B 13522 Reference C taaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgt GGTTAACGTTGT CGACGCGGTCTCTCTCTtaaagaaaagccacaggtgaagagaagcagttgttaaactgttcagtaaaCggaaccaacttctgacaaactttgggtaccaactgagactcatgcatgtAGAGGGAGACGGACGTCTCAATAAggttaacgttgtAGATCGAGACCCGACGC chr14:68128079-Reference-C;Patient-59 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative G agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggcca CACTTCTCGTCC CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAcacttctcgtccAGATCGAGACCCGACGC chr14:69549591-Alternative-G;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative G agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggcca GATACGCGTTCG CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgatacgcgttcgAGATCGAGACCCGACGC chr14:69549591-Alternative-G;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative G agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggcca GTATCTTGGTTC CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgtatcttggttcAGATCGAGACCCGACGC chr14:69549591-Alternative-G;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Reference T agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggcca GTAGCGATATGA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgtagcgatatgaAGATCGAGACCCGACGC chr14:69549591-Reference-T;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Reference T agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggcca GGAGTAGATGAA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAggagtagatgaaAGATCGAGACCCGACGC chr14:69549591-Reference-T;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative A agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggcca CTACGAGCTGAC CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAActacgagctgacAGATCGAGACCCGACGC chr14:69549591-Alternative-A;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative A agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggcca CGCGTTAGTGCT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAcgcgttagtgctAGATCGAGACCCGACGC chr14:69549591-Alternative-A;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative G agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggcca GCGTTGTAACAT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgcgttgtaacatAGATCGAGACCCGACGC chr14:69549591-Alternative-G;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative A agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggcca GGCTTACAACTA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAggcttacaactaAGATCGAGACCCGACGC chr14:69549591-Alternative-A;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Variant C agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggcca GCACCTAACATA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgcacctaacataAGATCGAGACCCGACGC chr14:69549591-Variant-C;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Variant C agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggcca GACTATCGGCGA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgactatcggcgaAGATCGAGACCCGACGC chr14:69549591-Variant-C;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative G agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggcca CTCTTAACCGCA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaGactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAActcttaaccgcaAGATCGAGACCCGACGC chr14:69549591-Alternative-G;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative A agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggcca AGGAGTCGAGCT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAaggagtcgagctAGATCGAGACCCGACGC chr14:69549591-Alternative-A;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Alternative A agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggcca CTCGCATGACGA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaAactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAActcgcatgacgaAGATCGAGACCCGACGC chr14:69549591-Alternative-A;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Reference T agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggcca GATGCGCAACGT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgatgcgcaacgtAGATCGAGACCCGACGC chr14:69549591-Reference-T;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Reference T agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggcca AGATCAGGAGAA CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAagatcaggagaaAGATCGAGACCCGACGC chr14:69549591-Reference-T;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Variant C agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggcca GCCGATCGTCAT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAgccgatcgtcatAGATCGAGACCCGACGC chr14:69549591-Variant-C;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Variant C agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggcca ATAACGCCTCTT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAataacgcctcttAGATCGAGACCCGACGC chr14:69549591-Variant-C;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Variant C agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggcca CGAATACGGCAG CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaCactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAcgaatacggcagAGATCGAGACCCGACGC chr14:69549591-Variant-C;Patient-87 chr14:69549591-TC Inherited Patient-87 intronic DCAF5 NA 4.95e-05 0.45 8.93 -3.01 DCAF5 70322 Reference T agctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggcca CGAAGCTGGTCT CGACGCGGTCTCTCTCTagctcttctactaaaagtaaaatttctaaggaggaggatgagacaggttaTactctgttccccttcattaacatctaccagggatttcctagtggggccaAGAGGGAGACGGACGTCTCAATAAcgaagctggtctAGATCGAGACCCGACGC chr14:69549591-Reference-T;Patient-87 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Reference A ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga ACTCCGAATAGG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAactccgaataggAGATCGAGACCCGACGC chr14:71001781-Reference-A;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Reference A ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga ATACGCGATCTA CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAatacgcgatctaAGATCGAGACCCGACGC chr14:71001781-Reference-A;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Reference A ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CGTGTTGGCGAA CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAcgtgttggcgaaAGATCGAGACCCGACGC chr14:71001781-Reference-A;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Variant T ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GGATGGAATGCA CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAggatggaatgcaAGATCGAGACCCGACGC chr14:71001781-Variant-T;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Variant T ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga ATTACCTACGCT CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAattacctacgctAGATCGAGACCCGACGC chr14:71001781-Variant-T;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative C ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GGCTCAATCTGG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAggctcaatctggAGATCGAGACCCGACGC chr14:71001781-Alternative-C;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative C ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GTTGAACGTTGT CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAgttgaacgttgtAGATCGAGACCCGACGC chr14:71001781-Alternative-C;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative C ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga AACGTGTTCCAA CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAaacgtgttccaaAGATCGAGACCCGACGC chr14:71001781-Alternative-C;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Reference A ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CAGACACATAAG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAcagacacataagAGATCGAGACCCGACGC chr14:71001781-Reference-A;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Reference A ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CTGGCGGCAATT CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaAtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAActggcggcaattAGATCGAGACCCGACGC chr14:71001781-Reference-A;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Variant T ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CTCATGCGAAGG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAActcatgcgaaggAGATCGAGACCCGACGC chr14:71001781-Variant-T;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Variant T ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga AAGTAACGACGG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAaagtaacgacggAGATCGAGACCCGACGC chr14:71001781-Variant-T;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative C ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GCGTCTGACATC CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAgcgtctgacatcAGATCGAGACCCGACGC chr14:71001781-Alternative-C;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Variant T ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CAACGAAGGTTC CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaTtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAcaacgaaggttcAGATCGAGACCCGACGC chr14:71001781-Variant-T;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative G ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CTATCAGACGCG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAActatcagacgcgAGATCGAGACCCGACGC chr14:71001781-Alternative-G;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative G ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GTTGGTGCACAC CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAgttggtgcacacAGATCGAGACCCGACGC chr14:71001781-Alternative-G;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative G ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CGTTGATGCGAC CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAcgttgatgcgacAGATCGAGACCCGACGC chr14:71001781-Alternative-G;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative C ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga GGTTAGCGGATT CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaCtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAggttagcggattAGATCGAGACCCGACGC chr14:71001781-Alternative-C;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative G ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CTCAACGAGTCG CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAActcaacgagtcgAGATCGAGACCCGACGC chr14:71001781-Alternative-G;Patient-77 chr14:71001781-AT DeNovo Patient-77 intergenic NA 0.00016 NA NA NA MED6 65602 Alternative G ccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatga CAAGATCACATC CGACGCGGTCTCTCTCTccatccaatggagaatggcatgtaatgacatcacaattagttactactcaGtgttgattgcagtgaactgccctattgacccaagtgtgtaaggggatgaAGAGGGAGACGGACGTCTCAATAAcaagatcacatcAGATCGAGACCCGACGC chr14:71001781-Alternative-G;Patient-77 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Reference G atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CACGCTATACGA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAcacgctatacgaAGATCGAGACCCGACGC chr14:71044110-Reference-G;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative C atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GCGTTAGTAGCG CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgcgttagtagcgAGATCGAGACCCGACGC chr14:71044110-Alternative-C;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative T atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GTAGGACGATTA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgtaggacgattaAGATCGAGACCCGACGC chr14:71044110-Alternative-T;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative T atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AGGACGGTAATT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAaggacggtaattAGATCGAGACCCGACGC chr14:71044110-Alternative-T;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Variant A atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CTGCTTCGACGT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAActgcttcgacgtAGATCGAGACCCGACGC chr14:71044110-Variant-A;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative T atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GGTGTAACATTC CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAggtgtaacattcAGATCGAGACCCGACGC chr14:71044110-Alternative-T;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Variant A atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GCGTGACTATAT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgcgtgactatatAGATCGAGACCCGACGC chr14:71044110-Variant-A;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative T atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AGATGCCGATAA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAagatgccgataaAGATCGAGACCCGACGC chr14:71044110-Alternative-T;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Variant A atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GATAGTAAGCGT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgatagtaagcgtAGATCGAGACCCGACGC chr14:71044110-Variant-A;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Reference G atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CGACATTGACCA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAcgacattgaccaAGATCGAGACCCGACGC chr14:71044110-Reference-G;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Reference G atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GTCGGAGAACGT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgtcggagaacgtAGATCGAGACCCGACGC chr14:71044110-Reference-G;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Reference G atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CAGGCTCCAGTT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAcaggctccagttAGATCGAGACCCGACGC chr14:71044110-Reference-G;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Reference G atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa GTAAGTGTCTGA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaGatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAgtaagtgtctgaAGATCGAGACCCGACGC chr14:71044110-Reference-G;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative C atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa ATTACTCGTTCG CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAattactcgttcgAGATCGAGACCCGACGC chr14:71044110-Alternative-C;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Variant A atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CGTCGACGTCAA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAcgtcgacgtcaaAGATCGAGACCCGACGC chr14:71044110-Variant-A;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Variant A atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa CGTGTAGATGTT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaAatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAcgtgtagatgttAGATCGAGACCCGACGC chr14:71044110-Variant-A;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative T atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AACGCTTATACG CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaTatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAaacgcttatacgAGATCGAGACCCGACGC chr14:71044110-Alternative-T;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative C atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AATAGGACGCGC CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAaataggacgcgcAGATCGAGACCCGACGC chr14:71044110-Alternative-C;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative C atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AGACGCATGCGA CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAagacgcatgcgaAGATCGAGACCCGACGC chr14:71044110-Alternative-C;Patient-92 chr14:71044110-GA Inherited Patient-92 intergenic 9.6e-05 0.000513 1.27 14.78 0.23 MED6 23273 Alternative C atccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaa AAGTACGCACCT CGACGCGGTCTCTCTCTatccatcatcttatcagaagaaaagagaagtatcatctgttatctcaacaCatgctcctcccaaaaaagtacatataaaatgtgtttgataaaattgaaaAGAGGGAGACGGACGTCTCAATAAaagtacgcacctAGATCGAGACCCGACGC chr14:71044110-Alternative-C;Patient-92 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Variant G acgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GACTATCCTGAT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgactatcctgatAGATCGAGACCCGACGC chr14:72309010-Variant-G;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative T acgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt AGCCGTATCTAT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAagccgtatctatAGATCGAGACCCGACGC chr14:72309010-Alternative-T;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative T acgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GCGTTACGCGAA CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgcgttacgcgaaAGATCGAGACCCGACGC chr14:72309010-Alternative-T;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Variant G acgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GCGCAACGGATA CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgcgcaacggataAGATCGAGACCCGACGC chr14:72309010-Variant-G;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative T acgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CGACTGATGGAG CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAcgactgatggagAGATCGAGACCCGACGC chr14:72309010-Alternative-T;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Variant G acgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GGACGAACATGA CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAggacgaacatgaAGATCGAGACCCGACGC chr14:72309010-Variant-G;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Variant G acgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt ATCCGGAATTGT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAatccggaattgtAGATCGAGACCCGACGC chr14:72309010-Variant-G;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative T acgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GATAGCAGGATT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgatagcaggattAGATCGAGACCCGACGC chr14:72309010-Alternative-T;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative T acgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GTCATGAGTAGA CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttTtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgtcatgagtagaAGATCGAGACCCGACGC chr14:72309010-Alternative-T;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Reference A acgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt ATTGTGAACGTC CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAattgtgaacgtcAGATCGAGACCCGACGC chr14:72309010-Reference-A;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Variant G acgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GGATCTAAGCGG CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttGtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAggatctaagcggAGATCGAGACCCGACGC chr14:72309010-Variant-G;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Reference A acgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GCCGGTTGTCTA CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgccggttgtctaAGATCGAGACCCGACGC chr14:72309010-Reference-A;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Reference A acgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CAGCAGTCGACT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAcagcagtcgactAGATCGAGACCCGACGC chr14:72309010-Reference-A;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative C acgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt AGAGTACCAAGT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAagagtaccaagtAGATCGAGACCCGACGC chr14:72309010-Alternative-C;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Reference A acgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CGCTAAGATAGT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAcgctaagatagtAGATCGAGACCCGACGC chr14:72309010-Reference-A;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative C acgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GAGTGTGGAGCT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgagtgtggagctAGATCGAGACCCGACGC chr14:72309010-Alternative-C;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative C acgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CTTAGGCGAAGG CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAActtaggcgaaggAGATCGAGACCCGACGC chr14:72309010-Alternative-C;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative C acgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CTGTCGGTGAAC CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAActgtcggtgaacAGATCGAGACCCGACGC chr14:72309010-Alternative-C;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Reference A acgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt GAGGTAGCGTCT CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttAtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAgaggtagcgtctAGATCGAGACCCGACGC chr14:72309010-Reference-A;Patient-87 chr14:72309010-AG Inherited Patient-87 intergenic NA 0.000513 0.81 11.91 0.51 RGS6 89806 Alternative C acgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctctttt CGAAGTATTAGG CGACGCGGTCTCTCTCTacgtgtattttaaagctctgttattaaatgcataaacctttattattgttCtgtcctcttgatgaattgatcccttcatcattatgaaatgacctcttttAGAGGGAGACGGACGTCTCAATAAcgaagtattaggAGATCGAGACCCGACGC chr14:72309010-Alternative-C;Patient-87 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative G ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GGAAGTAACGAC CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAggaagtaacgacAGATCGAGACCCGACGC chr14:73600616-Alternative-G;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative G ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat ATCCTGCGACAG CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAatcctgcgacagAGATCGAGACCCGACGC chr14:73600616-Alternative-G;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative G ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat AAGATCCGATGT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAaagatccgatgtAGATCGAGACCCGACGC chr14:73600616-Alternative-G;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Reference A ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat AGCTCTCTGTCG CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAagctctctgtcgAGATCGAGACCCGACGC chr14:73600616-Reference-A;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative C ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GGATCTAAGGAT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAggatctaaggatAGATCGAGACCCGACGC chr14:73600616-Alternative-C;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative G ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat AACCGCACGGAA CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAaaccgcacggaaAGATCGAGACCCGACGC chr14:73600616-Alternative-G;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Variant T ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GCGATTACTAAG CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAgcgattactaagAGATCGAGACCCGACGC chr14:73600616-Variant-T;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Variant T ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat ACTGGCGCTTGT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAactggcgcttgtAGATCGAGACCCGACGC chr14:73600616-Variant-T;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Variant T ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat CTATGTGACGAC CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAActatgtgacgacAGATCGAGACCCGACGC chr14:73600616-Variant-T;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative G ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat CTAGGTGCGGAT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggGgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAActaggtgcggatAGATCGAGACCCGACGC chr14:73600616-Alternative-G;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative C ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat AGTAAGCGCATT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAagtaagcgcattAGATCGAGACCCGACGC chr14:73600616-Alternative-C;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Reference A ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat ATACTTCACCAC CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAatacttcaccacAGATCGAGACCCGACGC chr14:73600616-Reference-A;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Variant T ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GTAGATACGAGT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAgtagatacgagtAGATCGAGACCCGACGC chr14:73600616-Variant-T;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative C ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat CGTAGACGGCTT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAcgtagacggcttAGATCGAGACCCGACGC chr14:73600616-Alternative-C;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Reference A ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GCAGCACCATAT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAgcagcaccatatAGATCGAGACCCGACGC chr14:73600616-Reference-A;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative C ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat GTGAGCGCGATT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAgtgagcgcgattAGATCGAGACCCGACGC chr14:73600616-Alternative-C;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Reference A ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat CGACTTCTAGAA CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAcgacttctagaaAGATCGAGACCCGACGC chr14:73600616-Reference-A;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Alternative C ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat ACGACGTTGTCG CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggCgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAacgacgttgtcgAGATCGAGACCCGACGC chr14:73600616-Alternative-C;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Reference A ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat AACTTCGACGGC CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggAgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAaacttcgacggcAGATCGAGACCCGACGC chr14:73600616-Reference-A;Patient-15 chr14:73600616-AT DeNovo Patient-15 intergenic NA 3.92e-05 0.08 3.86 0 PSEN1 2526 Variant T ggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccat CGACGCGCATAT CGACGCGGTCTCTCTCTggcgggggtcacaaggtgtttggtggggagctccagagacattatccaggTgaaggaatgtcacaaggtaatgtcatcagttaaggcaggaactggccatAGAGGGAGACGGACGTCTCAATAAcgacgcgcatatAGATCGAGACCCGACGC chr14:73600616-Variant-T;Patient-15 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Variant G gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AGCACCTACGCA CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAagcacctacgcaAGATCGAGACCCGACGC chr14:73952413-Variant-G;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Reference A gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca CACGAATCATCA CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAcacgaatcatcaAGATCGAGACCCGACGC chr14:73952413-Reference-A;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative C gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca ACTTGAATCGAG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAacttgaatcgagAGATCGAGACCCGACGC chr14:73952413-Alternative-C;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative C gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GATTCCGTAACC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgattccgtaaccAGATCGAGACCCGACGC chr14:73952413-Alternative-C;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Reference A gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AGTCTCGTAGAT CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAagtctcgtagatAGATCGAGACCCGACGC chr14:73952413-Reference-A;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Reference A gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AAGTTGGTTCAC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAaagttggttcacAGATCGAGACCCGACGC chr14:73952413-Reference-A;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative C gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GAGCTCAACGAG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgagctcaacgagAGATCGAGACCCGACGC chr14:73952413-Alternative-C;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative C gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca ATTGACTGGTCT CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAattgactggtctAGATCGAGACCCGACGC chr14:73952413-Alternative-C;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative T gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GCGAAGGATCGA CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgcgaaggatcgaAGATCGAGACCCGACGC chr14:73952413-Alternative-T;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Reference A gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GACCAATGTTGT CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgaccaatgttgtAGATCGAGACCCGACGC chr14:73952413-Reference-A;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative T gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca ACTCATGTCGTT CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAactcatgtcgttAGATCGAGACCCGACGC chr14:73952413-Alternative-T;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Variant G gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GTCGCAGTAAGG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgtcgcagtaaggAGATCGAGACCCGACGC chr14:73952413-Variant-G;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Variant G gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GGTGTATGTAAC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAggtgtatgtaacAGATCGAGACCCGACGC chr14:73952413-Variant-G;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Variant G gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AGCTAATTACGG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAagctaattacggAGATCGAGACCCGACGC chr14:73952413-Variant-G;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative T gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AACACACATCGC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAaacacacatcgcAGATCGAGACCCGACGC chr14:73952413-Alternative-T;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative C gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca GATGCTTACAAC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaCctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAgatgcttacaacAGATCGAGACCCGACGC chr14:73952413-Alternative-C;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Reference A gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AGTTGACTCGCG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaActaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAagttgactcgcgAGATCGAGACCCGACGC chr14:73952413-Reference-A;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Variant G gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca ATTGTCTCGAAC CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaGctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAattgtctcgaacAGATCGAGACCCGACGC chr14:73952413-Variant-G;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative T gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca AGATTCGAACGT CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAagattcgaacgtAGATCGAGACCCGACGC chr14:73952413-Alternative-T;Patient-88 chr14:73952413-AG DeNovo Patient-88 intronic HEATR4 NA 4.95e-05 0.03 3.17 0.11 NUMB 27126 Alternative T gggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatcca ACAGATCAGCGG CGACGCGGTCTCTCTCTgggcaaggagttcaagaccagcctggccaacatggcaaaactccatctcaTctaaaaatacaaaaattagttgggcatcgtggcacatgcctgtaatccaAGAGGGAGACGGACGTCTCAATAAacagatcagcggAGATCGAGACCCGACGC chr14:73952413-Alternative-T;Patient-88 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Variant G ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcac AGAACCTTGCAC CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAagaaccttgcacAGATCGAGACCCGACGC chr14:74723370-Variant-G;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Variant G ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcac CTATTGACCAAG CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAActattgaccaagAGATCGAGACCCGACGC chr14:74723370-Variant-G;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Reference T ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcac GATGGCGGCATA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgatggcggcataAGATCGAGACCCGACGC chr14:74723370-Reference-T;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative A ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcac ACCAACTTACGA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAaccaacttacgaAGATCGAGACCCGACGC chr14:74723370-Alternative-A;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative A ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcac CATAGCATAAGG CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcatagcataaggAGATCGAGACCCGACGC chr14:74723370-Alternative-A;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Variant G ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcac GACGTACGTCCA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgacgtacgtccaAGATCGAGACCCGACGC chr14:74723370-Variant-G;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative A ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcac AGTCTAGTATGC CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAagtctagtatgcAGATCGAGACCCGACGC chr14:74723370-Alternative-A;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Reference T ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcac GATATACGCGAT CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgatatacgcgatAGATCGAGACCCGACGC chr14:74723370-Reference-T;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Reference T ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcac CATTCGCCTGAC CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcattcgcctgacAGATCGAGACCCGACGC chr14:74723370-Reference-T;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative A ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcac CGCCGCTAACTA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcgccgctaactaAGATCGAGACCCGACGC chr14:74723370-Alternative-A;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative A ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcac CACTAGCTGTAA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaAacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcactagctgtaaAGATCGAGACCCGACGC chr14:74723370-Alternative-A;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative C ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcac GATGTGCGCAGA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgatgtgcgcagaAGATCGAGACCCGACGC chr14:74723370-Alternative-C;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Variant G ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcac GGTATGTGGACG CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAggtatgtggacgAGATCGAGACCCGACGC chr14:74723370-Variant-G;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Variant G ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcac GAGGTTAGCCGA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaGacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgaggttagccgaAGATCGAGACCCGACGC chr14:74723370-Variant-G;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Reference T ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcac GGTCGGATTGTC CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAggtcggattgtcAGATCGAGACCCGACGC chr14:74723370-Reference-T;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative C ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcac CATATGCGCTAT CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcatatgcgctatAGATCGAGACCCGACGC chr14:74723370-Alternative-C;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Reference T ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcac CATTCTGACGAA CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaTacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAcattctgacgaaAGATCGAGACCCGACGC chr14:74723370-Reference-T;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative C ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcac ATACGGTCCGAC CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAatacggtccgacAGATCGAGACCCGACGC chr14:74723370-Alternative-C;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative C ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcac GAGTACGCGGTT CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAgagtacgcggttAGATCGAGACCCGACGC chr14:74723370-Alternative-C;Patient-25 chr14:74723370-TG DeNovo Patient-25 intronic VSX2 NA 4.95e-05 0.03 3.15 -0.63 VSX2 17194 Alternative C ggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcac ACGCTGTTCGAG CGACGCGGTCTCTCTCTggattcattctttgctgtcttctctgagaggtggataaaaccgggagtcaCacttttttttttttttttttttttgagacagagtcttgctctgttgcacAGAGGGAGACGGACGTCTCAATAAacgctgttcgagAGATCGAGACCCGACGC chr14:74723370-Alternative-C;Patient-25 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Variant C aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CTCGCGTTGACA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAActcgcgttgacaAGATCGAGACCCGACGC chr14:74903309-Variant-C;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Variant C aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc ACACGTGCGTTA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAacacgtgcgttaAGATCGAGACCCGACGC chr14:74903309-Variant-C;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Variant C aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc AGTGTTGGCGAG CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAagtgttggcgagAGATCGAGACCCGACGC chr14:74903309-Variant-C;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Variant C aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GGCTTCGCTTGT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAggcttcgcttgtAGATCGAGACCCGACGC chr14:74903309-Variant-C;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Variant C aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc AGGTTAGACGAT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttCggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAaggttagacgatAGATCGAGACCCGACGC chr14:74903309-Variant-C;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative G aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CGGCTTGTACGA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAcggcttgtacgaAGATCGAGACCCGACGC chr14:74903309-Alternative-G;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Reference T aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc ACTTCGTATGCT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAacttcgtatgctAGATCGAGACCCGACGC chr14:74903309-Reference-T;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative G aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GGTTATGCGTAC CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAggttatgcgtacAGATCGAGACCCGACGC chr14:74903309-Alternative-G;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative G aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc ACACGCGTTCGT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAacacgcgttcgtAGATCGAGACCCGACGC chr14:74903309-Alternative-G;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative A aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GACGCGTCAGAT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAgacgcgtcagatAGATCGAGACCCGACGC chr14:74903309-Alternative-A;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative A aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GAGCATCGTTCA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAgagcatcgttcaAGATCGAGACCCGACGC chr14:74903309-Alternative-A;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative G aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GGTCGTCGTCAA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAggtcgtcgtcaaAGATCGAGACCCGACGC chr14:74903309-Alternative-G;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Reference T aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc AATCTCACATGG CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAaatctcacatggAGATCGAGACCCGACGC chr14:74903309-Reference-T;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative A aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CTATAGAGCGCG CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAActatagagcgcgAGATCGAGACCCGACGC chr14:74903309-Alternative-A;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Reference T aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GTCGAACGGTCT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAgtcgaacggtctAGATCGAGACCCGACGC chr14:74903309-Reference-T;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative A aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CTATCACGGTAA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAActatcacggtaaAGATCGAGACCCGACGC chr14:74903309-Alternative-A;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative A aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CGTGCACGTAGT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttAggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAcgtgcacgtagtAGATCGAGACCCGACGC chr14:74903309-Alternative-A;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Reference T aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc GGCGTCATTGGT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAggcgtcattggtAGATCGAGACCCGACGC chr14:74903309-Reference-T;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Reference T aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc CGATGACGATAA CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttTggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAcgatgacgataaAGATCGAGACCCGACGC chr14:74903309-Reference-T;Patient-99 chr14:74903309-TC DeNovo Patient-99 intergenic NA 0.000513 -0.06 1.83 0.36 NPC2 56774 Alternative G aagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagc ACTGTGCTGAAT CGACGCGGTCTCTCTCTaagctcagctcagctgggtgcagtggctcacacgtgtaatcccagcacttGggggggccgaggcgggcggatcttctgaagttaggtgttcaagaccagcAGAGGGAGACGGACGTCTCAATAAactgtgctgaatAGATCGAGACCCGACGC chr14:74903309-Alternative-G;Patient-99 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative G gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc AACTCGGATTCA CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAaactcggattcaAGATCGAGACCCGACGC chr14:75007776-Alternative-G;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Variant T gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc AGATGGTATCGA CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAagatggtatcgaAGATCGAGACCCGACGC chr14:75007776-Variant-T;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative G gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc AACGCCACTCTT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAaacgccactcttAGATCGAGACCCGACGC chr14:75007776-Alternative-G;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative G gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GCATATACGTCG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgcatatacgtcgAGATCGAGACCCGACGC chr14:75007776-Alternative-G;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Variant T gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc ATAGCGGTTGCG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAatagcggttgcgAGATCGAGACCCGACGC chr14:75007776-Variant-T;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative A gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc ATAGTACACCGT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAatagtacaccgtAGATCGAGACCCGACGC chr14:75007776-Alternative-A;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Variant T gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GATACCGGTAGG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgataccggtaggAGATCGAGACCCGACGC chr14:75007776-Variant-T;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Reference C gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc CATTGGTCCGCT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAcattggtccgctAGATCGAGACCCGACGC chr14:75007776-Reference-C;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Reference C gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc ACATCGTAACAC CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAacatcgtaacacAGATCGAGACCCGACGC chr14:75007776-Reference-C;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative A gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GTACTCGCTACC CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgtactcgctaccAGATCGAGACCCGACGC chr14:75007776-Alternative-A;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Reference C gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc CGGTAGCATACG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAcggtagcatacgAGATCGAGACCCGACGC chr14:75007776-Reference-C;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative A gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GTATTACGCGGC CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgtattacgcggcAGATCGAGACCCGACGC chr14:75007776-Alternative-A;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Variant T gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc CGTCGGAGTCAA CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAcgtcggagtcaaAGATCGAGACCCGACGC chr14:75007776-Variant-T;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative G gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GAATCGATCCGT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgaatcgatccgtAGATCGAGACCCGACGC chr14:75007776-Alternative-G;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative G gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc AACGTTGATTCG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaGctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAaacgttgattcgAGATCGAGACCCGACGC chr14:75007776-Alternative-G;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative A gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GATTCGCTGTGG CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgattcgctgtggAGATCGAGACCCGACGC chr14:75007776-Alternative-A;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Reference C gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc CTGGTTCGGCTT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAActggttcggcttAGATCGAGACCCGACGC chr14:75007776-Reference-C;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Alternative A gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc CGTACCAACGGT CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaActgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAcgtaccaacggtAGATCGAGACCCGACGC chr14:75007776-Alternative-A;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Variant T gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GTCAAGCGCGAA CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaTctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgtcaagcgcgaaAGATCGAGACCCGACGC chr14:75007776-Variant-T;Patient-28 chr14:75007776-CT DeNovo Patient-28 intronic LTBP2 NA 4.95e-05 -0.13 1.18 -0.86 ISCA2 47352 Reference C gtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctccc GTAACGTTACGC CGACGCGGTCTCTCTCTgtgaaaattcagcagccagtgagctttgtgacaggtgaaggcaggtgacaCctgtcaccgtccctgccacccacaccaggtgtccctcttgcatgctcccAGAGGGAGACGGACGTCTCAATAAgtaacgttacgcAGATCGAGACCCGACGC chr14:75007776-Reference-C;Patient-28 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative G gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GGCGTCGTGATT CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAggcgtcgtgattAGATCGAGACCCGACGC chr14:75413838-Alternative-G;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative G gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GTGTTCACAGCG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgtgttcacagcgAGATCGAGACCCGACGC chr14:75413838-Alternative-G;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative G gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca AGAATGCGGTCG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAagaatgcggtcgAGATCGAGACCCGACGC chr14:75413838-Alternative-G;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative G gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GTCAGTGCTCTT CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgtcagtgctcttAGATCGAGACCCGACGC chr14:75413838-Alternative-G;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative G gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca AACAACCGTAAG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcGtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAaacaaccgtaagAGATCGAGACCCGACGC chr14:75413838-Alternative-G;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative A gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca ACTAACTAAGCG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAactaactaagcgAGATCGAGACCCGACGC chr14:75413838-Alternative-A;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Variant T gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GCGACTTAATGT CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgcgacttaatgtAGATCGAGACCCGACGC chr14:75413838-Variant-T;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative A gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GAGGTTCGAATA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgaggttcgaataAGATCGAGACCCGACGC chr14:75413838-Alternative-A;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Reference C gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca AGTACGACCATC CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAagtacgaccatcAGATCGAGACCCGACGC chr14:75413838-Reference-C;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Reference C gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca CGTCTGCCATAC CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAcgtctgccatacAGATCGAGACCCGACGC chr14:75413838-Reference-C;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Variant T gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GCCGAATGTCGT CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgccgaatgtcgtAGATCGAGACCCGACGC chr14:75413838-Variant-T;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative A gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca ATTCCGTCGAAG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAattccgtcgaagAGATCGAGACCCGACGC chr14:75413838-Alternative-A;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Reference C gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca AGCAGCATAACA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAagcagcataacaAGATCGAGACCCGACGC chr14:75413838-Reference-C;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Variant T gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca CGTTACGTGTGG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAcgttacgtgtggAGATCGAGACCCGACGC chr14:75413838-Variant-T;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Variant T gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca CGTTAGCTTCTA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAcgttagcttctaAGATCGAGACCCGACGC chr14:75413838-Variant-T;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Reference C gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca AATCAATGCGGT CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAaatcaatgcggtAGATCGAGACCCGACGC chr14:75413838-Reference-C;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Variant T gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca CTGGTTGATCAA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcTtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAActggttgatcaaAGATCGAGACCCGACGC chr14:75413838-Variant-T;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative A gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GCGCTATTCGAG CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgcgctattcgagAGATCGAGACCCGACGC chr14:75413838-Alternative-A;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Alternative A gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GGCAAGTGTCGA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcAtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAggcaagtgtcgaAGATCGAGACCCGACGC chr14:75413838-Alternative-A;Patient-58 chr14:75413838-CT Inherited Patient-58 intronic PGF 0.000223 0.000247 0.2 5.86 1.54 PGF 8628 Reference C gctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagaca GACCACAGCGAA CGACGCGGTCTCTCTCTgctaccctcagctggttcctcccttgggagccagggcaaggtaccagggcCtcttgggactgtctggttgtacctctccatattgggcaagtgacagacaAGAGGGAGACGGACGTCTCAATAAgaccacagcgaaAGATCGAGACCCGACGC chr14:75413838-Reference-C;Patient-58 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative G ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AAGATAGCTTCG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAaagatagcttcgAGATCGAGACCCGACGC chr14:78096896-Alternative-G;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative G ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GCATCGCATCAG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAgcatcgcatcagAGATCGAGACCCGACGC chr14:78096896-Alternative-G;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative G ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgt CAGTTCTAGCTT CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAcagttctagcttAGATCGAGACCCGACGC chr14:78096896-Alternative-G;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative G ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgt CAAGACGTTGAT CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAcaagacgttgatAGATCGAGACCCGACGC chr14:78096896-Alternative-G;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative G ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GGTTCAAGACGG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatGtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAggttcaagacggAGATCGAGACCCGACGC chr14:78096896-Alternative-G;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Variant T ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AGCGTGTAATGA CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAagcgtgtaatgaAGATCGAGACCCGACGC chr14:78096896-Variant-T;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Reference A ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GTCCGACAGTAA CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAgtccgacagtaaAGATCGAGACCCGACGC chr14:78096896-Reference-A;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Variant T ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AGTGCTCGGAAC CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAagtgctcggaacAGATCGAGACCCGACGC chr14:78096896-Variant-T;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Reference A ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AAGTACCTGGAA CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAaagtacctggaaAGATCGAGACCCGACGC chr14:78096896-Reference-A;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Reference A ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GGACGTAGAATT CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAggacgtagaattAGATCGAGACCCGACGC chr14:78096896-Reference-A;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Variant T ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AAGCGTCGGAGT CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAaagcgtcggagtAGATCGAGACCCGACGC chr14:78096896-Variant-T;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Reference A ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgt CGGTACCTAGTC CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAcggtacctagtcAGATCGAGACCCGACGC chr14:78096896-Reference-A;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Reference A ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GATTCGCGGTAC CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatAtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAgattcgcggtacAGATCGAGACCCGACGC chr14:78096896-Reference-A;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Variant T ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AGGACGCAGCAT CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAaggacgcagcatAGATCGAGACCCGACGC chr14:78096896-Variant-T;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative C ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgt CACGTGTGATAC CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAcacgtgtgatacAGATCGAGACCCGACGC chr14:78096896-Alternative-C;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative C ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgt ACACCTACGCAG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAacacctacgcagAGATCGAGACCCGACGC chr14:78096896-Alternative-C;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Variant T ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgt ATCGCTTGTACG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatTtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAatcgcttgtacgAGATCGAGACCCGACGC chr14:78096896-Variant-T;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative C ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgt AACGCAAGTGAA CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAaacgcaagtgaaAGATCGAGACCCGACGC chr14:78096896-Alternative-C;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative C ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgt GGATCGCATTCG CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAggatcgcattcgAGATCGAGACCCGACGC chr14:78096896-Alternative-C;Patient-84 chr14:78096896-AT Inherited Patient-84 intergenic 0.000509 0.00103 -0.04 2.11 0 ALKBH1 77459 Alternative C ccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgt CGTTAGGTGTTA CGACGCGGTCTCTCTCTccctggtgctggcctgccaccacacttgtctaatatatatatatatacatCtatatatatatatttttttttttttttttgcaatggagtcttgctctgtAGAGGGAGACGGACGTCTCAATAAcgttaggtgttaAGATCGAGACCCGACGC chr14:78096896-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative C ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttg AATAAGTGGCGT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAaataagtggcgtAGATCGAGACCCGACGC chr14:78096898-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative C ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ACGATTGCATCA CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAacgattgcatcaAGATCGAGACCCGACGC chr14:78096898-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative C ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CACGTGACATAT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAcacgtgacatatAGATCGAGACCCGACGC chr14:78096898-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative C ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttg GGAGATGCATGC CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAggagatgcatgcAGATCGAGACCCGACGC chr14:78096898-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative C ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CACATATGCCGC CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatCtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAcacatatgccgcAGATCGAGACCCGACGC chr14:78096898-Alternative-C;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Reference A ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttg GCCGACTAGTCT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAgccgactagtctAGATCGAGACCCGACGC chr14:78096898-Reference-A;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Variant T ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttg GAGCAGCACAAC CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAgagcagcacaacAGATCGAGACCCGACGC chr14:78096898-Variant-T;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative G ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CTCGTCTATCGG CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAActcgtctatcggAGATCGAGACCCGACGC chr14:78096898-Alternative-G;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Reference A ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttg AACGCTCGGCAT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAaacgctcggcatAGATCGAGACCCGACGC chr14:78096898-Reference-A;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Reference A ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ATCGTACCTGCG CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAatcgtacctgcgAGATCGAGACCCGACGC chr14:78096898-Reference-A;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Reference A ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CATAGCGACGCT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAcatagcgacgctAGATCGAGACCCGACGC chr14:78096898-Reference-A;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative G ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ACCTAGATCCGC CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAacctagatccgcAGATCGAGACCCGACGC chr14:78096898-Alternative-G;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative G ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ACGGCATCGTCA CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAacggcatcgtcaAGATCGAGACCCGACGC chr14:78096898-Alternative-G;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Reference A ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttg AGCGCGAATTAA CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatAtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAagcgcgaattaaAGATCGAGACCCGACGC chr14:78096898-Reference-A;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Variant T ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttg GTAAGTATAGCG CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAgtaagtatagcgAGATCGAGACCCGACGC chr14:78096898-Variant-T;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative G ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CGTGACGCAGTT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAcgtgacgcagttAGATCGAGACCCGACGC chr14:78096898-Alternative-G;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Variant T ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttg CGTTGCTGCGTT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAcgttgctgcgttAGATCGAGACCCGACGC chr14:78096898-Variant-T;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Variant T ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ACTTGGTGGTAT CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAacttggtggtatAGATCGAGACCCGACGC chr14:78096898-Variant-T;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Variant T ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttg ACCTCCGTTAAC CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatTtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAacctccgttaacAGATCGAGACCCGACGC chr14:78096898-Variant-T;Patient-84 chr14:78096898-AT Inherited Patient-84 intergenic 0.000596 0.000513 -0.04 2.03 0 ALKBH1 77457 Alternative G ctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttg GACCGATTATCA CGACGCGGTCTCTCTCTctggtgctggcctgccaccacacttgtctaatatatatatatatacatatGtatatatatatttttttttttttttttgcaatggagtcttgctctgttgAGAGGGAGACGGACGTCTCAATAAgaccgattatcaAGATCGAGACCCGACGC chr14:78096898-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Variant T ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GTGCTTACGCGA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAgtgcttacgcgaAGATCGAGACCCGACGC chr14:78096900-Variant-T;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Variant T ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CTGTTAACCTAC CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAActgttaacctacAGATCGAGACCCGACGC chr14:78096900-Variant-T;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Variant T ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CACGGACGTACA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAcacggacgtacaAGATCGAGACCCGACGC chr14:78096900-Variant-T;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative G ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc ACGTTACGGATT CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAacgttacggattAGATCGAGACCCGACGC chr14:78096900-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative G ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc AACTCCTACGCT CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAaactcctacgctAGATCGAGACCCGACGC chr14:78096900-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative G ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GTCCGTTCGAAT CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAgtccgttcgaatAGATCGAGACCCGACGC chr14:78096900-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Variant T ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GCCGACTACCAT CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAgccgactaccatAGATCGAGACCCGACGC chr14:78096900-Variant-T;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative G ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CGCGCTAACATC CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAcgcgctaacatcAGATCGAGACCCGACGC chr14:78096900-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Reference A ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc AGCAAGCTAAGG CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAagcaagctaaggAGATCGAGACCCGACGC chr14:78096900-Reference-A;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative C ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc ACTTACGAGTGG CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAacttacgagtggAGATCGAGACCCGACGC chr14:78096900-Alternative-C;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Reference A ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CGGACGCAGTTA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAcggacgcagttaAGATCGAGACCCGACGC chr14:78096900-Reference-A;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Variant T ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GAGATCCTTCAA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatTtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAgagatccttcaaAGATCGAGACCCGACGC chr14:78096900-Variant-T;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative C ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CTAATTGGTACG CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAActaattggtacgAGATCGAGACCCGACGC chr14:78096900-Alternative-C;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Reference A ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GGAAGTTGAGTT CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAggaagttgagttAGATCGAGACCCGACGC chr14:78096900-Reference-A;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative G ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CTTAAGTCGCAG CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatGtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAActtaagtcgcagAGATCGAGACCCGACGC chr14:78096900-Alternative-G;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Reference A ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc GATTCTCCTACA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAgattctcctacaAGATCGAGACCCGACGC chr14:78096900-Reference-A;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative C ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CTGCGTATCGTC CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAActgcgtatcgtcAGATCGAGACCCGACGC chr14:78096900-Alternative-C;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative C ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc AGTTCGTCATGA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAagttcgtcatgaAGATCGAGACCCGACGC chr14:78096900-Alternative-C;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Reference A ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc CAACAGCGGTAC CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatAtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAcaacagcggtacAGATCGAGACCCGACGC chr14:78096900-Reference-A;Patient-84 chr14:78096900-AT Inherited Patient-84 intergenic 0.000676 0.000513 -0.05 1.9 0 ALKBH1 77455 Alternative C ggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgcc ATTATCGCGCTA CGACGCGGTCTCTCTCTggtgctggcctgccaccacacttgtctaatatatatatatatacatatatCtatatatatttttttttttttttttgcaatggagtcttgctctgttgccAGAGGGAGACGGACGTCTCAATAAattatcgcgctaAGATCGAGACCCGACGC chr14:78096900-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative G tgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgccta ACCGATAGCCTT CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAaccgatagccttAGATCGAGACCCGACGC chr14:78096902-Alternative-G;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative C tgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgccta ATACGTGCACCA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAatacgtgcaccaAGATCGAGACCCGACGC chr14:78096902-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative C tgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgccta ATATACCGGAGA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAatataccggagaAGATCGAGACCCGACGC chr14:78096902-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative G tgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgccta AGGCGAAGATCG CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAaggcgaagatcgAGATCGAGACCCGACGC chr14:78096902-Alternative-G;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative C tgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CGCTATGTACGC CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAcgctatgtacgcAGATCGAGACCCGACGC chr14:78096902-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative G tgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgccta ACAGCATGCATC CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAacagcatgcatcAGATCGAGACCCGACGC chr14:78096902-Alternative-G;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative C tgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CGATAGGACGCA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAcgataggacgcaAGATCGAGACCCGACGC chr14:78096902-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Reference A tgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgccta GCGATGTGCGAA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAgcgatgtgcgaaAGATCGAGACCCGACGC chr14:78096902-Reference-A;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative C tgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgccta GTCGCGTTCCAA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatCtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAgtcgcgttccaaAGATCGAGACCCGACGC chr14:78096902-Alternative-C;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative G tgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgccta AGGAGTAGGATA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAaggagtaggataAGATCGAGACCCGACGC chr14:78096902-Alternative-G;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Alternative G tgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgccta AGCATACGGATA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatGtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAagcatacggataAGATCGAGACCCGACGC chr14:78096902-Alternative-G;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Variant T tgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CGTGTTCACGTC CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAcgtgttcacgtcAGATCGAGACCCGACGC chr14:78096902-Variant-T;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Reference A tgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgccta GTTCCAACGGCA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAgttccaacggcaAGATCGAGACCCGACGC chr14:78096902-Reference-A;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Variant T tgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgccta AACTCGCCATCG CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAaactcgccatcgAGATCGAGACCCGACGC chr14:78096902-Variant-T;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Reference A tgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CTCTTAACACAG CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAActcttaacacagAGATCGAGACCCGACGC chr14:78096902-Reference-A;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Variant T tgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CTAGTTGGCATA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAActagttggcataAGATCGAGACCCGACGC chr14:78096902-Variant-T;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Variant T tgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CTATGGTGATAC CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAActatggtgatacAGATCGAGACCCGACGC chr14:78096902-Variant-T;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Variant T tgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgccta ACATCGAGTAAC CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatTtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAacatcgagtaacAGATCGAGACCCGACGC chr14:78096902-Variant-T;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Reference A tgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgccta AGTCGGCGCTAA CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAagtcggcgctaaAGATCGAGACCCGACGC chr14:78096902-Reference-A;Patient-84 chr14:78096902-AT Inherited Patient-84 intergenic 0.000585 0.000513 -0.07 1.74 0 ALKBH1 77453 Reference A tgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgccta CATATTCGGCGG CGACGCGGTCTCTCTCTtgctggcctgccaccacacttgtctaatatatatatatatacatatatatAtatatatttttttttttttttttgcaatggagtcttgctctgttgcctaAGAGGGAGACGGACGTCTCAATAAcatattcggcggAGATCGAGACCCGACGC chr14:78096902-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Variant T ctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg ACCTAACGCTGA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAacctaacgctgaAGATCGAGACCCGACGC chr14:78096904-Variant-T;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Reference A ctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GATACGTAAGGT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgatacgtaaggtAGATCGAGACCCGACGC chr14:78096904-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Reference A ctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg AGGTACTTGCTA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAaggtacttgctaAGATCGAGACCCGACGC chr14:78096904-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative C ctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg ACGGCGTGGTTA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAacggcgtggttaAGATCGAGACCCGACGC chr14:78096904-Alternative-C;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative G ctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GACTATCGCATT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgactatcgcattAGATCGAGACCCGACGC chr14:78096904-Alternative-G;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Reference A ctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GCGGATGGTGAA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgcggatggtgaaAGATCGAGACCCGACGC chr14:78096904-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative C ctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg CAGACTTCCATT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAcagacttccattAGATCGAGACCCGACGC chr14:78096904-Alternative-C;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative G ctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTCATCACCAAT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgtcatcaccaatAGATCGAGACCCGACGC chr14:78096904-Alternative-G;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Reference A ctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg AAGGCCGCGTTA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAaaggccgcgttaAGATCGAGACCCGACGC chr14:78096904-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative G ctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTACTTGTCGAA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgtacttgtcgaaAGATCGAGACCCGACGC chr14:78096904-Alternative-G;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative C ctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg AAGTGTTGGACA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAaagtgttggacaAGATCGAGACCCGACGC chr14:78096904-Alternative-C;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Variant T ctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTTGGATACCAT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgttggataccatAGATCGAGACCCGACGC chr14:78096904-Variant-T;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Reference A ctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg AGTGCTTGTGCG CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatAtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAagtgcttgtgcgAGATCGAGACCCGACGC chr14:78096904-Reference-A;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative C ctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg CTAACGTAATCG CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAActaacgtaatcgAGATCGAGACCCGACGC chr14:78096904-Alternative-C;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative C ctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTTCGAATAGCG CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatCtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgttcgaatagcgAGATCGAGACCCGACGC chr14:78096904-Alternative-C;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative G ctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTATCGTCGTAA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgtatcgtcgtaaAGATCGAGACCCGACGC chr14:78096904-Alternative-G;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Variant T ctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg CTCGGAATTACA CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAActcggaattacaAGATCGAGACCCGACGC chr14:78096904-Variant-T;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Variant T ctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTGTAATCACGT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgtgtaatcacgtAGATCGAGACCCGACGC chr14:78096904-Variant-T;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Alternative G ctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg AGCGCGCAACAT CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatGtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAagcgcgcaacatAGATCGAGACCCGACGC chr14:78096904-Alternative-G;Patient-84 chr14:78096904-AT Inherited Patient-84 intergenic 0.000584 0.000513 -0.06 1.82 0 ALKBH1 77451 Variant T ctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctagg GTGAGCTTAACC CGACGCGGTCTCTCTCTctggcctgccaccacacttgtctaatatatatatatatacatatatatatTtatatttttttttttttttttgcaatggagtcttgctctgttgcctaggAGAGGGAGACGGACGTCTCAATAAgtgagcttaaccAGATCGAGACCCGACGC chr14:78096904-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative C ggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CGACTGAACATC CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcgactgaacatcAGATCGAGACCCGACGC chr14:78096906-Alternative-C;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative C ggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GACGGTTCATGC CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgacggttcatgcAGATCGAGACCCGACGC chr14:78096906-Alternative-C;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative C ggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct ACGTAGACGCGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAacgtagacgcgtAGATCGAGACCCGACGC chr14:78096906-Alternative-C;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative G ggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CATTACCGGCGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcattaccggcgtAGATCGAGACCCGACGC chr14:78096906-Alternative-G;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative G ggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CGTTACAGTAGA CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcgttacagtagaAGATCGAGACCCGACGC chr14:78096906-Alternative-G;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Variant T ggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GGTACACTATGG CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAggtacactatggAGATCGAGACCCGACGC chr14:78096906-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative G ggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct ACGTTATTGCGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAacgttattgcgtAGATCGAGACCCGACGC chr14:78096906-Alternative-G;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative G ggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GATATCTGCACA CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgatatctgcacaAGATCGAGACCCGACGC chr14:78096906-Alternative-G;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Variant T ggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CAGGTGTTAACT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcaggtgttaactAGATCGAGACCCGACGC chr14:78096906-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Reference A ggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GTAGTACTACCA CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgtagtactaccaAGATCGAGACCCGACGC chr14:78096906-Reference-A;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative C ggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CGTAATTATCGG CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcgtaattatcggAGATCGAGACCCGACGC chr14:78096906-Alternative-C;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Reference A ggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GATGCAAGTAAC CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgatgcaagtaacAGATCGAGACCCGACGC chr14:78096906-Reference-A;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative G ggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GTAACTCGGCGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatGtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgtaactcggcgtAGATCGAGACCCGACGC chr14:78096906-Alternative-G;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Variant T ggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CGTATAGTCGCG CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAcgtatagtcgcgAGATCGAGACCCGACGC chr14:78096906-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Variant T ggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GTAACTTGACCA CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgtaacttgaccaAGATCGAGACCCGACGC chr14:78096906-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Reference A ggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GTACCGGAGCTA CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgtaccggagctaAGATCGAGACCCGACGC chr14:78096906-Reference-A;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Variant T ggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct ATACTAGCGACT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatTtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAatactagcgactAGATCGAGACCCGACGC chr14:78096906-Variant-T;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Reference A ggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GATTCCGAGCGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgattccgagcgtAGATCGAGACCCGACGC chr14:78096906-Reference-A;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Alternative C ggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct CTATGTCTATCG CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatCtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAActatgtctatcgAGATCGAGACCCGACGC chr14:78096906-Alternative-C;Patient-84 chr14:78096906-AT Inherited Patient-84 intergenic 0.000818 0.000513 -0.59 0.04 0 ALKBH1 77449 Reference A ggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggct GCGAATATCTGT CGACGCGGTCTCTCTCTggcctgccaccacacttgtctaatatatatatatatacatatatatatatAtatttttttttttttttttgcaatggagtcttgctctgttgcctaggctAGAGGGAGACGGACGTCTCAATAAgcgaatatctgtAGATCGAGACCCGACGC chr14:78096906-Reference-A;Patient-84 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative G gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGTTACGCGTCT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggttacgcgtctAGATCGAGACCCGACGC chr14:78102994-Alternative-G;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Reference T gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaa ACATCAGATGCT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAacatcagatgctAGATCGAGACCCGACGC chr14:78102994-Reference-T;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative G gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGCTTACGTGCA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggcttacgtgcaAGATCGAGACCCGACGC chr14:78102994-Alternative-G;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Variant C gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGCAATAACGAT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggcaataacgatAGATCGAGACCCGACGC chr14:78102994-Variant-C;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Variant C gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaa GTACCTAGCACG CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAgtacctagcacgAGATCGAGACCCGACGC chr14:78102994-Variant-C;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative G gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGTTGACTCTAA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggttgactctaaAGATCGAGACCCGACGC chr14:78102994-Alternative-G;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Reference T gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGAACACCGAGA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggaacaccgagaAGATCGAGACCCGACGC chr14:78102994-Reference-T;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative G gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGTAGGATATGT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggtaggatatgtAGATCGAGACCCGACGC chr14:78102994-Alternative-G;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative G gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaa ATTACCGCACTT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaGagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAattaccgcacttAGATCGAGACCCGACGC chr14:78102994-Alternative-G;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Variant C gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaa GACCATAGTATC CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAgaccatagtatcAGATCGAGACCCGACGC chr14:78102994-Variant-C;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Variant C gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaa GACGACACGTGA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAgacgacacgtgaAGATCGAGACCCGACGC chr14:78102994-Variant-C;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Variant C gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaa AACAGCGGTTCG CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaCagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAaacagcggttcgAGATCGAGACCCGACGC chr14:78102994-Variant-C;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative A gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaa CAACGCGACGAA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAcaacgcgacgaaAGATCGAGACCCGACGC chr14:78102994-Alternative-A;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Reference T gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaa AACAGCGCTACG CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAaacagcgctacgAGATCGAGACCCGACGC chr14:78102994-Reference-T;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative A gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaa GCGTTGATGATT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAgcgttgatgattAGATCGAGACCCGACGC chr14:78102994-Alternative-A;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative A gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaa GGCAGTACGTCT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAggcagtacgtctAGATCGAGACCCGACGC chr14:78102994-Alternative-A;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Reference T gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaa GACCTCTCGTGA CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAgacctctcgtgaAGATCGAGACCCGACGC chr14:78102994-Reference-T;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative A gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaa CAACGAGCTAAT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAcaacgagctaatAGATCGAGACCCGACGC chr14:78102994-Alternative-A;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Alternative A gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaa ATTCGAGATCGC CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaAagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAattcgagatcgcAGATCGAGACCCGACGC chr14:78102994-Alternative-A;Patient-54 chr14:78102994-TC DeNovo Patient-54 intergenic NA 0.000512821 0.5 9.39 0.16 SPTLC2 19883 Reference T gccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaa AGCATCTTGGAT CGACGCGGTCTCTCTCTgccctctcctgccccactcatgtctgaccaattacctactgtaacaaccaTagatatgaaccaattgagaaataagacataggctttaattacatctaaaAGAGGGAGACGGACGTCTCAATAAagcatcttggatAGATCGAGACCCGACGC chr14:78102994-Reference-T;Patient-54 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative A ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACGATGAGTAGT CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAacgatgagtagtAGATCGAGACCCGACGC chr14:78189839-Alternative-A;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Variant C ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACACGACGAATA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAacacgacgaataAGATCGAGACCCGACGC chr14:78189839-Variant-C;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Reference T ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc AAGGCCGGAGAA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAaaggccggagaaAGATCGAGACCCGACGC chr14:78189839-Reference-T;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Reference T ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CTACCGTCATGG CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAActaccgtcatggAGATCGAGACCCGACGC chr14:78189839-Reference-T;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative G ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACCTCGGTGTTC CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAacctcggtgttcAGATCGAGACCCGACGC chr14:78189839-Alternative-G;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative A ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc AGTGTTGCACAT CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAagtgttgcacatAGATCGAGACCCGACGC chr14:78189839-Alternative-A;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative A ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CGATAAGTCGTT CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAcgataagtcgttAGATCGAGACCCGACGC chr14:78189839-Alternative-A;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative A ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CACGTTAGATGG CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAcacgttagatggAGATCGAGACCCGACGC chr14:78189839-Alternative-A;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Variant C ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CGAACTACGGCA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAcgaactacggcaAGATCGAGACCCGACGC chr14:78189839-Variant-C;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Variant C ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CTACAAGCGTCA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAActacaagcgtcaAGATCGAGACCCGACGC chr14:78189839-Variant-C;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative G ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CACGTGCTGCAA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAcacgtgctgcaaAGATCGAGACCCGACGC chr14:78189839-Alternative-G;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Reference T ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ATCCGCGTCAAG CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAatccgcgtcaagAGATCGAGACCCGACGC chr14:78189839-Reference-T;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative A ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc GCGTGTGTTCCA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgAgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAgcgtgtgttccaAGATCGAGACCCGACGC chr14:78189839-Alternative-A;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Reference T ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACAACTCGCGTT CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAacaactcgcgttAGATCGAGACCCGACGC chr14:78189839-Reference-T;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Variant C ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACCGACAGATGC CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAaccgacagatgcAGATCGAGACCCGACGC chr14:78189839-Variant-C;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative G ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc GACATTCGCAGA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAgacattcgcagaAGATCGAGACCCGACGC chr14:78189839-Alternative-G;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative G ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CTAGTTACGAGA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAActagttacgagaAGATCGAGACCCGACGC chr14:78189839-Alternative-G;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Alternative G ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ACATCGCTACAT CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgGgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAacatcgctacatAGATCGAGACCCGACGC chr14:78189839-Alternative-G;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Variant C ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc CAGCAACTAAGA CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgCgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAcagcaactaagaAGATCGAGACCCGACGC chr14:78189839-Variant-C;Patient-75 chr14:78189839-TC DeNovo Patient-75 intronic SNW1 NA 9.9e-05 1.33 15.05 0.23 SNW1 37657 Reference T ttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtcc ATACTATGCCGC CGACGCGGTCTCTCTCTttcaagtgatcctcctgcctcatcctcccgagtacctgggaccacagatgTgtgccaccatgcctggctaatttttaaattttttgtaaagatggggtccAGAGGGAGACGGACGTCTCAATAAatactatgccgcAGATCGAGACCCGACGC chr14:78189839-Reference-T;Patient-75 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative C gaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct AGCTGCCTATAA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAagctgcctataaAGATCGAGACCCGACGC chr14:80667831-Alternative-C;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative C gaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct ACTCAAGTGAGA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAactcaagtgagaAGATCGAGACCCGACGC chr14:80667831-Alternative-C;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative C gaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct AGGCGGATCGTT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAaggcggatcgttAGATCGAGACCCGACGC chr14:80667831-Alternative-C;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Variant A gaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CGATTCACCATT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAcgattcaccattAGATCGAGACCCGACGC chr14:80667831-Variant-A;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Variant A gaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct AGATGCTCTAAC CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAagatgctctaacAGATCGAGACCCGACGC chr14:80667831-Variant-A;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative C gaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GTTACGGCCTTA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgttacggccttaAGATCGAGACCCGACGC chr14:80667831-Alternative-C;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Variant A gaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct ATCCGTGGAAGG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAatccgtggaaggAGATCGAGACCCGACGC chr14:80667831-Variant-A;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Variant A gaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CTTGCTAGTCGG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAActtgctagtcggAGATCGAGACCCGACGC chr14:80667831-Variant-A;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Reference T gaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GCCGAACCGTAA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgccgaaccgtaaAGATCGAGACCCGACGC chr14:80667831-Reference-T;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative C gaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct AATGGACGTAGT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataCatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAaatggacgtagtAGATCGAGACCCGACGC chr14:80667831-Alternative-C;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Variant A gaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CAAGGTACGTGG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataAatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAcaaggtacgtggAGATCGAGACCCGACGC chr14:80667831-Variant-A;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative G gaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CACTAGACATCA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAcactagacatcaAGATCGAGACCCGACGC chr14:80667831-Alternative-G;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative G gaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CTCTTATGAACG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAActcttatgaacgAGATCGAGACCCGACGC chr14:80667831-Alternative-G;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative G gaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CAGGCTCTCGTT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAcaggctctcgttAGATCGAGACCCGACGC chr14:80667831-Alternative-G;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Reference T gaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GATATGTAGTGG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgatatgtagtggAGATCGAGACCCGACGC chr14:80667831-Reference-T;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Reference T gaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GTATTCTGGTCT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgtattctggtctAGATCGAGACCCGACGC chr14:80667831-Reference-T;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative G gaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GCAGTATGCGTC CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgcagtatgcgtcAGATCGAGACCCGACGC chr14:80667831-Alternative-G;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Alternative G gaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct GATATAGGCCGG CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataGatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAgatataggccggAGATCGAGACCCGACGC chr14:80667831-Alternative-G;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Reference T gaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct AGGTTGAACGAT CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAaggttgaacgatAGATCGAGACCCGACGC chr14:80667831-Reference-T;Patient-56 chr14:80667831-TA DeNovo Patient-56 3 prime UTR DIO2 NA 0.00016 -0.26 0.48 -4.94 DIO2 29565 Reference T gaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagct CGTCCTGACGAA CGACGCGGTCTCTCTCTgaatggccatggtacctacctcccgcagcagctgagaatatatatacataTatttgtatgtatgtatgtatgtgtgtatgtacgtataatttcttcagctAGAGGGAGACGGACGTCTCAATAAcgtcctgacgaaAGATCGAGACCCGACGC chr14:80667831-Reference-T;Patient-56 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative T atctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctc CTCATGAGGATT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAActcatgaggattAGATCGAGACCCGACGC chr14:81976866-Alternative-T;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Variant C atctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctc CATGCGTCCACT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcatgcgtccactAGATCGAGACCCGACGC chr14:81976866-Variant-C;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Reference A atctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctc CATGTTCGACTT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcatgttcgacttAGATCGAGACCCGACGC chr14:81976866-Reference-A;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative T atctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctc AGCTAACAACAC CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAagctaacaacacAGATCGAGACCCGACGC chr14:81976866-Alternative-T;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative T atctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctc AAGGCGGATAGG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAaaggcggataggAGATCGAGACCCGACGC chr14:81976866-Alternative-T;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Reference A atctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctc CGTTCCTAGTCG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcgttcctagtcgAGATCGAGACCCGACGC chr14:81976866-Reference-A;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Variant C atctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctc CAACCGATGTGA CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcaaccgatgtgaAGATCGAGACCCGACGC chr14:81976866-Variant-C;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Variant C atctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctc GGTAGCTTGACA CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAggtagcttgacaAGATCGAGACCCGACGC chr14:81976866-Variant-C;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Reference A atctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctc CATGAAGCGATT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcatgaagcgattAGATCGAGACCCGACGC chr14:81976866-Reference-A;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Reference A atctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctc CTTACAGTTAGG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAActtacagttaggAGATCGAGACCCGACGC chr14:81976866-Reference-A;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Variant C atctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctc CTCTTATCTGCT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAActcttatctgctAGATCGAGACCCGACGC chr14:81976866-Variant-C;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative T atctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctc AGTCGTGTGGAG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAagtcgtgtggagAGATCGAGACCCGACGC chr14:81976866-Alternative-T;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative T atctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctc GGTATTGCACCG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatTtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAggtattgcaccgAGATCGAGACCCGACGC chr14:81976866-Alternative-T;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative G atctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctc CGAATCGCAGTC CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcgaatcgcagtcAGATCGAGACCCGACGC chr14:81976866-Alternative-G;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Reference A atctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctc AAGACGTAGCAT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatAtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAaagacgtagcatAGATCGAGACCCGACGC chr14:81976866-Reference-A;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative G atctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctc AACTTGGTATGC CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAaacttggtatgcAGATCGAGACCCGACGC chr14:81976866-Alternative-G;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative G atctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctc GCGACATCTTAA CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAgcgacatcttaaAGATCGAGACCCGACGC chr14:81976866-Alternative-G;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative G atctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctc CTTGCTCATCTT CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAActtgctcatcttAGATCGAGACCCGACGC chr14:81976866-Alternative-G;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Variant C atctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctc AAGGCGAGTACA CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatCtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAaaggcgagtacaAGATCGAGACCCGACGC chr14:81976866-Variant-C;Patient-94 chr14:81976866-AC DeNovo Patient-94 intronic SEL1L NA 9.9e-05 NA NA NA SEL1L 23338 Alternative G atctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctc CGTTACGTTAAG CGACGCGGTCTCTCTCTatctctctctctctctctctctctctctctctctctctctctctatatatGtatatatagacaattaaaggctaggggaatataagcacatctttttctcAGAGGGAGACGGACGTCTCAATAAcgttacgttaagAGATCGAGACCCGACGC chr14:81976866-Alternative-G;Patient-94 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative C agaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CTCAATTCGGAA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAActcaattcggaaAGATCGAGACCCGACGC chr14:88439617-Alternative-C;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative C agaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CATAAGACGTCC CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcataagacgtccAGATCGAGACCCGACGC chr14:88439617-Alternative-C;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Reference A agaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa GAGCAGTGAACA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAgagcagtgaacaAGATCGAGACCCGACGC chr14:88439617-Reference-A;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Reference A agaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CACGGCTACAAG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcacggctacaagAGATCGAGACCCGACGC chr14:88439617-Reference-A;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative C agaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CTCAACCGGTCA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAActcaaccggtcaAGATCGAGACCCGACGC chr14:88439617-Alternative-C;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative C agaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa AGCACGACATCG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAagcacgacatcgAGATCGAGACCCGACGC chr14:88439617-Alternative-C;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Reference A agaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa AGCTACGACGAG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAagctacgacgagAGATCGAGACCCGACGC chr14:88439617-Reference-A;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative C agaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa ACTCGCGCATGT CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacCcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAactcgcgcatgtAGATCGAGACCCGACGC chr14:88439617-Alternative-C;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative T agaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CACGTTGTTGCA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcacgttgttgcaAGATCGAGACCCGACGC chr14:88439617-Alternative-T;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative T agaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CGATGCATCGAC CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcgatgcatcgacAGATCGAGACCCGACGC chr14:88439617-Alternative-T;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Reference A agaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa ACCGACGTTAAC CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAaccgacgttaacAGATCGAGACCCGACGC chr14:88439617-Reference-A;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative T agaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CGATATTCAACG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcgatattcaacgAGATCGAGACCCGACGC chr14:88439617-Alternative-T;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Reference A agaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa CAGACAACAGCG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacActtctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAcagacaacagcgAGATCGAGACCCGACGC chr14:88439617-Reference-A;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Variant G agaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa GCGTATGTAAGT CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAgcgtatgtaagtAGATCGAGACCCGACGC chr14:88439617-Variant-G;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative T agaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa AGAGGTTAGGTT CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAagaggttaggttAGATCGAGACCCGACGC chr14:88439617-Alternative-T;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Alternative T agaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa AGAGTACCGAAG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacTcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAagagtaccgaagAGATCGAGACCCGACGC chr14:88439617-Alternative-T;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Variant G agaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa GGTTCTACTATC CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAggttctactatcAGATCGAGACCCGACGC chr14:88439617-Variant-G;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Variant G agaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa ACCTGATGAGAA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAacctgatgagaaAGATCGAGACCCGACGC chr14:88439617-Variant-G;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Variant G agaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa ATACATGCTTCG CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAatacatgcttcgAGATCGAGACCCGACGC chr14:88439617-Variant-G;Patient-54 chr14:88439617-AG DeNovo Patient-54 intronic GALC 0.000446 0.000126 -0.03 2.23 -0.05 GALC 20391 Variant G agaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaa GGCTGTGTTGCA CGACGCGGTCTCTCTCTagaaatattgtttccattagcactttctgagacatttaatagataattacGcttctgatatccaagaaaatgagggagaaactttggcaaaggacttgaaAGAGGGAGACGGACGTCTCAATAAggctgtgttgcaAGATCGAGACCCGACGC chr14:88439617-Variant-G;Patient-54 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative G agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GATAGTATCGAG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgatagtatcgagAGATCGAGACCCGACGC chr14:88801866-Alternative-G;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative G agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GACGACACAGGT CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgacgacacaggtAGATCGAGACCCGACGC chr14:88801866-Alternative-G;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative T agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ATATGCGTGAAC CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAatatgcgtgaacAGATCGAGACCCGACGC chr14:88801866-Alternative-T;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative G agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt AGATAGCGGACA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAagatagcggacaAGATCGAGACCCGACGC chr14:88801866-Alternative-G;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative G agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GACCATTAGCGA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgaccattagcgaAGATCGAGACCCGACGC chr14:88801866-Alternative-G;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative T agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GATTGCTTGCGG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgattgcttgcggAGATCGAGACCCGACGC chr14:88801866-Alternative-T;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative G agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt AATAATGGCACG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcGtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAaataatggcacgAGATCGAGACCCGACGC chr14:88801866-Alternative-G;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative T agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ATCCGCAACCTT CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAatccgcaaccttAGATCGAGACCCGACGC chr14:88801866-Alternative-T;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative T agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt CAGCTCGCATTC CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAcagctcgcattcAGATCGAGACCCGACGC chr14:88801866-Alternative-T;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Reference C agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt AGACCTTAGCGG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAagaccttagcggAGATCGAGACCCGACGC chr14:88801866-Reference-C;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Variant A agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt AAGTCTAGTCAC CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAaagtctagtcacAGATCGAGACCCGACGC chr14:88801866-Variant-A;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Alternative T agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ATCGATACACAG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcTtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAatcgatacacagAGATCGAGACCCGACGC chr14:88801866-Alternative-T;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Reference C agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ACTTCGCAATCG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAacttcgcaatcgAGATCGAGACCCGACGC chr14:88801866-Reference-C;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Reference C agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GCAGCTTACAAG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgcagcttacaagAGATCGAGACCCGACGC chr14:88801866-Reference-C;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Variant A agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt CATATTCGACGA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAcatattcgacgaAGATCGAGACCCGACGC chr14:88801866-Variant-A;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Variant A agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ACTTCATCACCA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAacttcatcaccaAGATCGAGACCCGACGC chr14:88801866-Variant-A;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Reference C agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt CGTTCACAACGG CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAcgttcacaacggAGATCGAGACCCGACGC chr14:88801866-Reference-C;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Variant A agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ATAGTCTGAGCA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAatagtctgagcaAGATCGAGACCCGACGC chr14:88801866-Variant-A;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Reference C agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt GTTGGACGTCCA CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcCtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAgttggacgtccaAGATCGAGACCCGACGC chr14:88801866-Reference-C;Patient-64 chr14:88801866-CA DeNovo Patient-64 intergenic NA 0.000513 -0.03 2.17 -2.05 SPATA7 50121 Variant A agcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgt ACAGCGGACAGT CGACGCGGTCTCTCTCTagcaaaataaaattgcctgttcaaaaataatgtggaaaatgaaggttttcAtacacatttatctgaccttctttctaaaataaatgtaacgggaaaatgtAGAGGGAGACGGACGTCTCAATAAacagcggacagtAGATCGAGACCCGACGC chr14:88801866-Variant-A;Patient-64 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Variant G agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag CTTGACGTGGAC CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAActtgacgtggacAGATCGAGACCCGACGC chr14:90059424-Variant-G;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Reference T agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag CGACAGTTCTAA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAcgacagttctaaAGATCGAGACCCGACGC chr14:90059424-Reference-T;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative C agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag ATTCGACAGACG CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAattcgacagacgAGATCGAGACCCGACGC chr14:90059424-Alternative-C;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Reference T agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag AGTGACCGACGA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAagtgaccgacgaAGATCGAGACCCGACGC chr14:90059424-Reference-T;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Variant G agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag AGTCATTCCGTC CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAagtcattccgtcAGATCGAGACCCGACGC chr14:90059424-Variant-G;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Variant G agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag AGAACGGCCAAG CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAagaacggccaagAGATCGAGACCCGACGC chr14:90059424-Variant-G;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Variant G agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag ATCGCACGACGT CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAatcgcacgacgtAGATCGAGACCCGACGC chr14:90059424-Variant-G;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Reference T agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GTCGGAGTCGTT CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAgtcggagtcgttAGATCGAGACCCGACGC chr14:90059424-Reference-T;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Reference T agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GGCTGTTGTCGA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAggctgttgtcgaAGATCGAGACCCGACGC chr14:90059424-Reference-T;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Reference T agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag AACGCGATGTCG CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaTgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAaacgcgatgtcgAGATCGAGACCCGACGC chr14:90059424-Reference-T;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative A agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GGTATCTCGCAC CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAggtatctcgcacAGATCGAGACCCGACGC chr14:90059424-Alternative-A;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Variant G agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GAAGATGTTCCA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaGgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAgaagatgttccaAGATCGAGACCCGACGC chr14:90059424-Variant-G;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative C agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GTTCCACGGTCA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAgttccacggtcaAGATCGAGACCCGACGC chr14:90059424-Alternative-C;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative C agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag ACTCCACGATAA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAactccacgataaAGATCGAGACCCGACGC chr14:90059424-Alternative-C;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative C agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GGCGAGTTCTGT CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAggcgagttctgtAGATCGAGACCCGACGC chr14:90059424-Alternative-C;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative A agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GAGGTTATCTGT CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAgaggttatctgtAGATCGAGACCCGACGC chr14:90059424-Alternative-A;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative C agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag CTTGAAGTCGAC CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaCgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAActtgaagtcgacAGATCGAGACCCGACGC chr14:90059424-Alternative-C;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative A agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GACCGTTGCGTT CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAgaccgttgcgttAGATCGAGACCCGACGC chr14:90059424-Alternative-A;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative A agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag GGTTGTGTAGCG CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAAggttgtgtagcgAGATCGAGACCCGACGC chr14:90059424-Alternative-A;Patient-36 chr14:90059424-TG DeNovo Patient-36 intronic FOXN3 NA 0.000799 -0.52 0.08 -0.84 FOXN3 26069 Alternative A agagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggag CTCTCGCTCCTA CGACGCGGTCTCTCTCTagagggagggagggagggaggaggaaggaaacaaggagggagggagggaaAgagggaaggaggaggaaggaaagaaaggagagagagagaaaggaaggagAGAGGGAGACGGACGTCTCAATAActctcgctcctaAGATCGAGACCCGACGC chr14:90059424-Alternative-A;Patient-36 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Reference G attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ACTAGTAGCCAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAactagtagccaaAGATCGAGACCCGACGC chr14:90487107-Reference-G;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Reference G attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GACCGTACATTA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgaccgtacattaAGATCGAGACCCGACGC chr14:90487107-Reference-G;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Reference G attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GCAGGATATCTT CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgcaggatatcttAGATCGAGACCCGACGC chr14:90487107-Reference-G;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative C attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CTGAAGACGCGT CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAActgaagacgcgtAGATCGAGACCCGACGC chr14:90487107-Alternative-C;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Reference G attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CTCAACCTGTTA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAActcaacctgttaAGATCGAGACCCGACGC chr14:90487107-Reference-G;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Variant T attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ACGGTCATAAGA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAacggtcataagaAGATCGAGACCCGACGC chr14:90487107-Variant-T;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Variant T attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ATATACCGGCTT CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAatataccggcttAGATCGAGACCCGACGC chr14:90487107-Variant-T;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative A attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ATTGAACGCGAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAattgaacgcgaaAGATCGAGACCCGACGC chr14:90487107-Alternative-A;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative C attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GTCGATTCGTAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgtcgattcgtaaAGATCGAGACCCGACGC chr14:90487107-Alternative-C;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Variant T attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GTCGAACGTCGT CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgtcgaacgtcgtAGATCGAGACCCGACGC chr14:90487107-Variant-T;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative C attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ACGCGTGCTGAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAacgcgtgctgaaAGATCGAGACCCGACGC chr14:90487107-Alternative-C;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Variant T attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CATCCAAGATCA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAcatccaagatcaAGATCGAGACCCGACGC chr14:90487107-Variant-T;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative A attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GACCAATACGAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgaccaatacgaaAGATCGAGACCCGACGC chr14:90487107-Alternative-A;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative A attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CTACGTAGCGCT CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAActacgtagcgctAGATCGAGACCCGACGC chr14:90487107-Alternative-A;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative C attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ACTCCTTCGTCC CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAactccttcgtccAGATCGAGACCCGACGC chr14:90487107-Alternative-C;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative A attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CGTTCTCATCAA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAcgttctcatcaaAGATCGAGACCCGACGC chr14:90487107-Alternative-A;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative A attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CTAGTGGACTTA CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtAtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAActagtggacttaAGATCGAGACCCGACGC chr14:90487107-Alternative-A;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Variant T attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt GCATGTAATTCG CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtTtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAgcatgtaattcgAGATCGAGACCCGACGC chr14:90487107-Variant-T;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Alternative C attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt CATTGATGCCGG CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtCtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAcattgatgccggAGATCGAGACCCGACGC chr14:90487107-Alternative-C;Patient-6 chr14:90487107-GT DeNovo Patient-6 intronic TDP1 NA 4.95e-05 0.42 8.6 2.07 TDP1 64860 Reference G attgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtctttttttttttt ACGTAACAACAC CGACGCGGTCTCTCTCTattgtggacaacaccaactggaccagatgatttagctgaggggttggtgtGtgcttgtcctcagacttcaatctggactaatccagtcttttttttttttAGAGGGAGACGGACGTCTCAATAAacgtaacaacacAGATCGAGACCCGACGC chr14:90487107-Reference-G;Patient-6 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative C ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga ACCGTTGGACGT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaccgttggacgtAGATCGAGACCCGACGC chr14:91542207-Alternative-C;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Variant G ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CGCGTAAGGCTA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcgcgtaaggctaAGATCGAGACCCGACGC chr14:91542207-Variant-G;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative C ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AACGTTCTCGAA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaacgttctcgaaAGATCGAGACCCGACGC chr14:91542207-Alternative-C;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative C ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CGGAATAACTGA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcggaataactgaAGATCGAGACCCGACGC chr14:91542207-Alternative-C;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative C ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CACGTGAACCGT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcacgtgaaccgtAGATCGAGACCCGACGC chr14:91542207-Alternative-C;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Variant G ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CAACAGACAAGG CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcaacagacaaggAGATCGAGACCCGACGC chr14:91542207-Variant-G;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative C ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AAGGCGCTAATA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccCacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaaggcgctaataAGATCGAGACCCGACGC chr14:91542207-Alternative-C;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Variant G ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AACTTCGGCGGT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaacttcggcggtAGATCGAGACCCGACGC chr14:91542207-Variant-G;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Variant G ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga ATACGCTGACCA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAatacgctgaccaAGATCGAGACCCGACGC chr14:91542207-Variant-G;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Reference A ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga GATCGTAACGCA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAgatcgtaacgcaAGATCGAGACCCGACGC chr14:91542207-Reference-A;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Reference A ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CTGTTCAATTGC CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAActgttcaattgcAGATCGAGACCCGACGC chr14:91542207-Reference-A;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Variant G ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CTATAGCAGTGT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccGacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAActatagcagtgtAGATCGAGACCCGACGC chr14:91542207-Variant-G;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Reference A ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AGTGTCCATTCT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAagtgtccattctAGATCGAGACCCGACGC chr14:91542207-Reference-A;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative T ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga GTAATCGCGTCG CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAgtaatcgcgtcgAGATCGAGACCCGACGC chr14:91542207-Alternative-T;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative T ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CTTGCGCTGTTC CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAActtgcgctgttcAGATCGAGACCCGACGC chr14:91542207-Alternative-T;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Reference A ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CGCGATTAAGAA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcgcgattaagaaAGATCGAGACCCGACGC chr14:91542207-Reference-A;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Reference A ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga ATTACTCCGGTT CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccAacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAattactccggttAGATCGAGACCCGACGC chr14:91542207-Reference-A;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative T ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AAGCAGAATGCA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaagcagaatgcaAGATCGAGACCCGACGC chr14:91542207-Alternative-T;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative T ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga CAAGCTATGAGA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAcaagctatgagaAGATCGAGACCCGACGC chr14:91542207-Alternative-T;Patient-55 chr14:91542207-AG Inherited Patient-55 intergenic 3.2e-05 0.000513 0.01 2.74 -0.96 RPS6KA5 15213 Alternative T ttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcga AATGCGACATGA CGACGCGGTCTCTCTCTttataaagatggataacaggccgggagcaatggctcatgcctgtaatcccTacactttgggaggcccaggtgggcagatcacctgaggttgggagttcgaAGAGGGAGACGGACGTCTCAATAAaatgcgacatgaAGATCGAGACCCGACGC chr14:91542207-Alternative-T;Patient-55 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Reference C ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GATAAGGTGGAA CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAgataaggtggaaAGATCGAGACCCGACGC chr14:92671672-Reference-C;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative A ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CGCCGTCAGATT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcgccgtcagattAGATCGAGACCCGACGC chr14:92671672-Alternative-A;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Reference C ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CTAGCCGGTACT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAActagccggtactAGATCGAGACCCGACGC chr14:92671672-Reference-C;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Reference C ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CGCGATTGGAAC CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcgcgattggaacAGATCGAGACCCGACGC chr14:92671672-Reference-C;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Reference C ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CACATACGCAAT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcacatacgcaatAGATCGAGACCCGACGC chr14:92671672-Reference-C;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Reference C ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CGTGGTTCAGGT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatCagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcgtggttcaggtAGATCGAGACCCGACGC chr14:92671672-Reference-C;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative G ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc AGTCGGAGTCAC CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAagtcggagtcacAGATCGAGACCCGACGC chr14:92671672-Alternative-G;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative G ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc AACTATGGCGCG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAaactatggcgcgAGATCGAGACCCGACGC chr14:92671672-Alternative-G;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Variant T ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GAATGACGATGG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAgaatgacgatggAGATCGAGACCCGACGC chr14:92671672-Variant-T;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative A ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GGAGTACCTATT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAggagtacctattAGATCGAGACCCGACGC chr14:92671672-Alternative-A;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Variant T ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CAGAGATCTCGT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcagagatctcgtAGATCGAGACCCGACGC chr14:92671672-Variant-T;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Variant T ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GTCTCGCCAGTT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAgtctcgccagttAGATCGAGACCCGACGC chr14:92671672-Variant-T;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative A ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc ACAACCGACCAT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAacaaccgaccatAGATCGAGACCCGACGC chr14:92671672-Alternative-A;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative G ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CAGCTCAAGTCG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcagctcaagtcgAGATCGAGACCCGACGC chr14:92671672-Alternative-G;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Variant T ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CTGCTACCGCTT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAActgctaccgcttAGATCGAGACCCGACGC chr14:92671672-Variant-T;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative A ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc ATAAGTTCGTCG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAataagttcgtcgAGATCGAGACCCGACGC chr14:92671672-Alternative-A;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative A ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GTCGAGATGCAG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatAagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAgtcgagatgcagAGATCGAGACCCGACGC chr14:92671672-Alternative-A;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Variant T ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc ACGATCGTAACG CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatTagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAacgatcgtaacgAGATCGAGACCCGACGC chr14:92671672-Variant-T;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative G ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc GCAGTGCACAAT CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAgcagtgcacaatAGATCGAGACCCGACGC chr14:92671672-Alternative-G;Patient-101 chr14:92671672-CT DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.92 12.76 0.75 CPSF2 83373 Alternative G ttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgc CGAATACCGGAC CGACGCGGTCTCTCTCTttcgaaggaagaggggaaggtaaaccctagcagatgcctggagagctgatGagctctaatggggcacagcactgatgacaatcacagctgtgccctctgcAGAGGGAGACGGACGTCTCAATAAcgaataccggacAGATCGAGACCCGACGC chr14:92671672-Alternative-G;Patient-101 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative T gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag CGTGATCTAAGG CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAcgtgatctaaggAGATCGAGACCCGACGC chr14:92806496-Alternative-T;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative T gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag CGAACATAACGA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAcgaacataacgaAGATCGAGACCCGACGC chr14:92806496-Alternative-T;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative T gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag CGATTCTCGGAG CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAcgattctcggagAGATCGAGACCCGACGC chr14:92806496-Alternative-T;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Reference G gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag AGCAGCGTGTTC CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAagcagcgtgttcAGATCGAGACCCGACGC chr14:92806496-Reference-G;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative T gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag AATACAACGACG CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAaatacaacgacgAGATCGAGACCCGACGC chr14:92806496-Alternative-T;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Variant A gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag ATATGTACTCGG CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAatatgtactcggAGATCGAGACCCGACGC chr14:92806496-Variant-A;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative T gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag CGTGACGAGCAA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaTtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAcgtgacgagcaaAGATCGAGACCCGACGC chr14:92806496-Alternative-T;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Reference G gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag ATCGCGACGTAC CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAatcgcgacgtacAGATCGAGACCCGACGC chr14:92806496-Reference-G;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Variant A gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GGCTATATAGCA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAggctatatagcaAGATCGAGACCCGACGC chr14:92806496-Variant-A;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Variant A gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag ACTCCGACAGCA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAactccgacagcaAGATCGAGACCCGACGC chr14:92806496-Variant-A;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Reference G gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag AACGTTCTTCCA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAaacgttcttccaAGATCGAGACCCGACGC chr14:92806496-Reference-G;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Reference G gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GACCTATTAACG CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgacctattaacgAGATCGAGACCCGACGC chr14:92806496-Reference-G;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative C gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GATAGTCGTCGC CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgatagtcgtcgcAGATCGAGACCCGACGC chr14:92806496-Alternative-C;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Reference G gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GTCCGAAGTATC CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaGtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgtccgaagtatcAGATCGAGACCCGACGC chr14:92806496-Reference-G;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Variant A gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GTCGTGGTTGAC CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgtcgtggttgacAGATCGAGACCCGACGC chr14:92806496-Variant-A;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative C gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GTACCTTACGCT CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgtaccttacgctAGATCGAGACCCGACGC chr14:92806496-Alternative-C;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative C gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GTCGATTCGTCT CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgtcgattcgtctAGATCGAGACCCGACGC chr14:92806496-Alternative-C;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Variant A gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GTAGAGCGGTGT CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaAtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgtagagcggtgtAGATCGAGACCCGACGC chr14:92806496-Variant-A;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative C gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag AGATTGGAGCAA CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAagattggagcaaAGATCGAGACCCGACGC chr14:92806496-Alternative-C;Patient-91 chr14:92806496-GA Inherited Patient-91 intronic SLC24A4 NA 4.95e-05 0.07 3.73 1.08 SLC24A4 17570 Alternative C gacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcag GATGCCGGATGT CGACGCGGTCTCTCTCTgacccctctacaggatactagttcaagaagagccatgtagtgtaaatacaCtggctggcttatattgtatattctgtgttccaaagtatgcacccagcagAGAGGGAGACGGACGTCTCAATAAgatgccggatgtAGATCGAGACCCGACGC chr14:92806496-Alternative-C;Patient-91 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative G ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacacca GACCGTGCATGT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgaccgtgcatgtAGATCGAGACCCGACGC chr14:94815367-Alternative-G;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Variant T ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacacca CGGTACACCGAT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAcggtacaccgatAGATCGAGACCCGACGC chr14:94815367-Variant-T;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative G ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacacca CACTATTGCGGC CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAcactattgcggcAGATCGAGACCCGACGC chr14:94815367-Alternative-G;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Variant T ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacacca GTTCATCGTTGT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgttcatcgttgtAGATCGAGACCCGACGC chr14:94815367-Variant-T;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative G ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacacca CGTAAGGCGCTA CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAcgtaaggcgctaAGATCGAGACCCGACGC chr14:94815367-Alternative-G;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Variant T ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacacca ATCTGATTCGCT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAatctgattcgctAGATCGAGACCCGACGC chr14:94815367-Variant-T;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative G ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacacca GTTATGCTCGAA CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgttatgctcgaaAGATCGAGACCCGACGC chr14:94815367-Alternative-G;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative G ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacacca GACGACGAACGT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacGtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgacgacgaacgtAGATCGAGACCCGACGC chr14:94815367-Alternative-G;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Variant T ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacacca AGCTAGCGCACA CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAagctagcgcacaAGATCGAGACCCGACGC chr14:94815367-Variant-T;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Variant T ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacacca ACAGCACGGCTT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacTtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAacagcacggcttAGATCGAGACCCGACGC chr14:94815367-Variant-T;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative A ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacacca GTGTCGTCGAAC CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgtgtcgtcgaacAGATCGAGACCCGACGC chr14:94815367-Alternative-A;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Reference C ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacacca AAGTGCGCTATT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAaagtgcgctattAGATCGAGACCCGACGC chr14:94815367-Reference-C;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative A ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacacca GACTGTCGATAT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgactgtcgatatAGATCGAGACCCGACGC chr14:94815367-Alternative-A;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative A ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacacca GTTGGTGACGAG CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgttggtgacgagAGATCGAGACCCGACGC chr14:94815367-Alternative-A;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Reference C ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacacca ATAGTCTGAACC CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAatagtctgaaccAGATCGAGACCCGACGC chr14:94815367-Reference-C;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Reference C ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacacca GACGATGTGACG CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgacgatgtgacgAGATCGAGACCCGACGC chr14:94815367-Reference-C;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative A ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacacca GCCGATCCAATC CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAgccgatccaatcAGATCGAGACCCGACGC chr14:94815367-Alternative-A;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Alternative A ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacacca CGCAGCTAACCA CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacAtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAcgcagctaaccaAGATCGAGACCCGACGC chr14:94815367-Alternative-A;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Reference C ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacacca AAGTGCTCAACG CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAaagtgctcaacgAGATCGAGACCCGACGC chr14:94815367-Reference-C;Patient-101 chr14:94815367-CT DeNovo Patient-101 intergenic NA 0.000513 0.21 5.94 0.87 SERPINA1 41661 Reference C ccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacacca AGGCGTGGCTAT CGACGCGGTCTCTCTCTccctggctccttcagctttgagcaggtaacagctccctgcttttgctaacCtctgggagcctcacctttgcatttttttcccttaactctttccacaccaAGAGGGAGACGGACGTCTCAATAAaggcgtggctatAGATCGAGACCCGACGC chr14:94815367-Reference-C;Patient-101 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Variant A gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattgg CTATAGCGATGT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAActatagcgatgtAGATCGAGACCCGACGC chr14:95236904-Variant-A;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative G gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattgg ATCGGCGGACTT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAatcggcggacttAGATCGAGACCCGACGC chr14:95236904-Alternative-G;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative T gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattgg ACGAATGCGCTA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAacgaatgcgctaAGATCGAGACCCGACGC chr14:95236904-Alternative-T;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Variant A gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattgg GACTGGCATCAG CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgactggcatcagAGATCGAGACCCGACGC chr14:95236904-Variant-A;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative G gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattgg GTCGCGCTGTAA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgtcgcgctgtaaAGATCGAGACCCGACGC chr14:95236904-Alternative-G;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative T gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattgg GCGGATAGATAA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgcggatagataaAGATCGAGACCCGACGC chr14:95236904-Alternative-T;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative T gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattgg CACGTTGTAACA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAcacgttgtaacaAGATCGAGACCCGACGC chr14:95236904-Alternative-T;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative G gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattgg ACGACACACGCT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAacgacacacgctAGATCGAGACCCGACGC chr14:95236904-Alternative-G;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Variant A gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattgg GGCGGAGATTCA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAggcggagattcaAGATCGAGACCCGACGC chr14:95236904-Variant-A;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative G gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattgg GATCCTGCACAG CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgatcctgcacagAGATCGAGACCCGACGC chr14:95236904-Alternative-G;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Variant A gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattgg GATCATTCGCTT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgatcattcgcttAGATCGAGACCCGACGC chr14:95236904-Variant-A;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Reference C gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattgg GCAATCAAGGCG CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgcaatcaaggcgAGATCGAGACCCGACGC chr14:95236904-Reference-C;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative G gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattgg CTACGGCAAGCT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcGcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAActacggcaagctAGATCGAGACCCGACGC chr14:95236904-Alternative-G;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative T gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattgg GTTACGCTTCAT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAgttacgcttcatAGATCGAGACCCGACGC chr14:95236904-Alternative-T;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Reference C gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattgg GGTTGTATGTTC CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAggttgtatgttcAGATCGAGACCCGACGC chr14:95236904-Reference-C;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Alternative T gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattgg CAGATCCGTGCA CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcTcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAcagatccgtgcaAGATCGAGACCCGACGC chr14:95236904-Alternative-T;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Reference C gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattgg GGACGCATTAGG CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAggacgcattaggAGATCGAGACCCGACGC chr14:95236904-Reference-C;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Reference C gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattgg GGTAGCCATCAG CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAggtagccatcagAGATCGAGACCCGACGC chr14:95236904-Reference-C;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Reference C gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattgg CATCAGGATTGT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcCcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAcatcaggattgtAGATCGAGACCCGACGC chr14:95236904-Reference-C;Patient-80 chr14:95236904-CA DeNovo Patient-80 intergenic 0.000128 0.00138 1.14 14.09 3.16 GSC 404 Variant A gttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattgg GGTGGAGATCGT CGACGCGGTCTCTCTCTgttaatctcattaattcctttgtgccgccgcagttaacaactccctccgcAcgagctctccacccccacccttttttctcagattgggtcctattattggAGAGGGAGACGGACGTCTCAATAAggtggagatcgtAGATCGAGACCCGACGC chr14:95236904-Variant-A;Patient-80 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Variant T cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga CGGCCTTAACAC CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAcggccttaacacAGATCGAGACCCGACGC chr14:96865993-Variant-T;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Variant T cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GTGAGCGAACAG CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAgtgagcgaacagAGATCGAGACCCGACGC chr14:96865993-Variant-T;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Variant T cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GACAAGGAACGG CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAgacaaggaacggAGATCGAGACCCGACGC chr14:96865993-Variant-T;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative A cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga ACAGACTTGACA CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAacagacttgacaAGATCGAGACCCGACGC chr14:96865993-Alternative-A;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Reference C cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga AGAACCGCCACT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAagaaccgccactAGATCGAGACCCGACGC chr14:96865993-Reference-C;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Variant T cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GAGATAACGTAC CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAgagataacgtacAGATCGAGACCCGACGC chr14:96865993-Variant-T;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Reference C cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga CAATAGCCTGAT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAcaatagcctgatAGATCGAGACCCGACGC chr14:96865993-Reference-C;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Reference C cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga AGACGTAGTCGG CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAagacgtagtcggAGATCGAGACCCGACGC chr14:96865993-Reference-C;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Reference C cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga ACTCAATCCGAA CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAactcaatccgaaAGATCGAGACCCGACGC chr14:96865993-Reference-C;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative A cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga ACGTGACGGTTC CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAacgtgacggttcAGATCGAGACCCGACGC chr14:96865993-Alternative-A;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative A cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GGAGGTTGTGGT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAggaggttgtggtAGATCGAGACCCGACGC chr14:96865993-Alternative-A;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Variant T cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GGCTTAGTAGCG CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccTgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAggcttagtagcgAGATCGAGACCCGACGC chr14:96865993-Variant-T;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative A cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GGTTCGTCGTCT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAggttcgtcgtctAGATCGAGACCCGACGC chr14:96865993-Alternative-A;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative A cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GGTGGAGTTCCT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccAgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAggtggagttcctAGATCGAGACCCGACGC chr14:96865993-Alternative-A;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative G cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga CGTGACGTATGA CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAcgtgacgtatgaAGATCGAGACCCGACGC chr14:96865993-Alternative-G;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative G cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga AGCAGTGTCGTC CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAagcagtgtcgtcAGATCGAGACCCGACGC chr14:96865993-Alternative-G;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative G cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GACGCATAGATA CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAgacgcatagataAGATCGAGACCCGACGC chr14:96865993-Alternative-G;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative G cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga CGTGTCGCATGA CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAcgtgtcgcatgaAGATCGAGACCCGACGC chr14:96865993-Alternative-G;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Alternative G cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga GAGCCTTAGATT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccGgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAgagccttagattAGATCGAGACCCGACGC chr14:96865993-Alternative-G;Patient-54 chr14:96865993-CT Inherited Patient-54 intronic AK7 0.000159 4.95e-05 0.06 3.66 0.52 AK7 7544 Reference C cacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgaga CGGACTATCTAT CGACGCGGTCTCTCTCTcacttcacaggaggtgccctggccgatgtcaccagcagtcccctgactccCgaggggcttagctcacctggcttcacagcagcagcctggcttcccgagaAGAGGGAGACGGACGTCTCAATAAcggactatctatAGATCGAGACCCGACGC chr14:96865993-Reference-C;Patient-54 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Reference G agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CTTGCTTCTGAA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAActtgcttctgaaAGATCGAGACCCGACGC chr14:97175712-Reference-G;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Variant C agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GGTACATGGTTA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAggtacatggttaAGATCGAGACCCGACGC chr14:97175712-Variant-C;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative T agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg AGTCAACGGTAC CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAagtcaacggtacAGATCGAGACCCGACGC chr14:97175712-Alternative-T;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative T agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GATACCATGTCA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgataccatgtcaAGATCGAGACCCGACGC chr14:97175712-Alternative-T;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Variant C agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg AGCTCTGCGGTT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAagctctgcggttAGATCGAGACCCGACGC chr14:97175712-Variant-C;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Variant C agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GACGTAGGCCTT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgacgtaggccttAGATCGAGACCCGACGC chr14:97175712-Variant-C;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative A agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GAATCGAATCCT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgaatcgaatcctAGATCGAGACCCGACGC chr14:97175712-Alternative-A;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Variant C agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GGTTATGGTATC CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAggttatggtatcAGATCGAGACCCGACGC chr14:97175712-Variant-C;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative T agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CGTGGTTGCCTA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAcgtggttgcctaAGATCGAGACCCGACGC chr14:97175712-Alternative-T;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative A agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CGTATCTGTTCA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAcgtatctgttcaAGATCGAGACCCGACGC chr14:97175712-Alternative-A;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative A agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CGAACCTCCGTT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAcgaacctccgttAGATCGAGACCCGACGC chr14:97175712-Alternative-A;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Variant C agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg AACAGCTGACGC CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggCattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAaacagctgacgcAGATCGAGACCCGACGC chr14:97175712-Variant-C;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative T agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg ACTCGGTACAAT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAactcggtacaatAGATCGAGACCCGACGC chr14:97175712-Alternative-T;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Reference G agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg ACTGTCGTGCAG CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAactgtcgtgcagAGATCGAGACCCGACGC chr14:97175712-Reference-G;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative A agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GTGATGACCAGG CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgtgatgaccaggAGATCGAGACCCGACGC chr14:97175712-Alternative-A;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Reference G agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CGGAATGGCTGT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAcggaatggctgtAGATCGAGACCCGACGC chr14:97175712-Reference-G;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Reference G agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GACTACGCGCAA CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgactacgcgcaaAGATCGAGACCCGACGC chr14:97175712-Reference-G;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative A agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg CGCCTTCCATTC CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggAattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAcgccttccattcAGATCGAGACCCGACGC chr14:97175712-Alternative-A;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Reference G agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg GCAACTCGCTTC CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggGattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAgcaactcgcttcAGATCGAGACCCGACGC chr14:97175712-Reference-G;Patient-14 chr14:97175712-GC DeNovo Patient-14 intergenic 0.000864 0.0287 -0.37 0.22 -0.91 VRK1 87971 Alternative T agcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactgg AACCGACCGGTT CGACGCGGTCTCTCTCTagcagtgatggttgtggtggtgggattagcggcagtggtagtggtggtggTattagcgcagcagtggtggcggtggtggtggcaggattagcagcactggAGAGGGAGACGGACGTCTCAATAAaaccgaccggttAGATCGAGACCCGACGC chr14:97175712-Alternative-T;Patient-14 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Reference C tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcag GTAATGCGTAGT CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAgtaatgcgtagtAGATCGAGACCCGACGC chr14:99683191-Reference-C;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative A tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcag GCGAGAGCATCA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAgcgagagcatcaAGATCGAGACCCGACGC chr14:99683191-Alternative-A;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative A tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcag GTTCAAGCAGAA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAgttcaagcagaaAGATCGAGACCCGACGC chr14:99683191-Alternative-A;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative A tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcag CGACGATTCATA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAcgacgattcataAGATCGAGACCCGACGC chr14:99683191-Alternative-A;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative A tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcag ACGGTCGGCTTA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAacggtcggcttaAGATCGAGACCCGACGC chr14:99683191-Alternative-A;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Reference C tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcag CACGGTTAAGAA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAcacggttaagaaAGATCGAGACCCGACGC chr14:99683191-Reference-C;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Reference C tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcag CTACGATACGGT CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAActacgatacggtAGATCGAGACCCGACGC chr14:99683191-Reference-C;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Reference C tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcag GAGTAGTATACG CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAgagtagtatacgAGATCGAGACCCGACGC chr14:99683191-Reference-C;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Reference C tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcag GGAGATTGGTAC CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaCacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAggagattggtacAGATCGAGACCCGACGC chr14:99683191-Reference-C;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative G tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcag ATATGTGGTCGT CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAatatgtggtcgtAGATCGAGACCCGACGC chr14:99683191-Alternative-G;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative G tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcag CTATCGTGCCGA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAActatcgtgccgaAGATCGAGACCCGACGC chr14:99683191-Alternative-G;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Variant T tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcag GGCGCTGTATGT CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAggcgctgtatgtAGATCGAGACCCGACGC chr14:99683191-Variant-T;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative G tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcag CAGACGCAATAA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAcagacgcaataaAGATCGAGACCCGACGC chr14:99683191-Alternative-G;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative G tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcag CGACGCGGAATA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAcgacgcggaataAGATCGAGACCCGACGC chr14:99683191-Alternative-G;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative G tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcag ACAGATCGAACT CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaGacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAacagatcgaactAGATCGAGACCCGACGC chr14:99683191-Alternative-G;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Alternative A tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcag AGTGAGAACGGC CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaAacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAagtgagaacggcAGATCGAGACCCGACGC chr14:99683191-Alternative-A;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Variant T tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcag CGCGACGATATC CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAcgcgacgatatcAGATCGAGACCCGACGC chr14:99683191-Variant-T;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Variant T tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcag GGCAATTGGACG CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAggcaattggacgAGATCGAGACCCGACGC chr14:99683191-Variant-T;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Variant T tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcag GCCTTCTGGATA CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAgccttctggataAGATCGAGACCCGACGC chr14:99683191-Variant-T;Patient-39 chr14:99683191-CT DeNovo Patient-39 intronic BCL11B 3.2e-05 4.95e-05 -0.06 1.79 -1.46 BCL11B 54630 Variant T tcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcag GGTCTTCTATAC CGACGCGGTCTCTCTCTtcaacatgcacatatgcacatacatgctcacacacaaaaacactcatacaTacacacacgcatacatacacatatgtgcacagataccatatacactcagAGAGGGAGACGGACGTCTCAATAAggtcttctatacAGATCGAGACCCGACGC chr14:99683191-Variant-T;Patient-39 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Variant A agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AATAAGCGCGAT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAaataagcgcgatAGATCGAGACCCGACGC chr15:102038024-Variant-A;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Variant A agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc GTGACATACGTT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAgtgacatacgttAGATCGAGACCCGACGC chr15:102038024-Variant-A;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Variant A agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CTGCGCAGTTCT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAActgcgcagttctAGATCGAGACCCGACGC chr15:102038024-Variant-A;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative T agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc GGCCAATGATAT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAggccaatgatatAGATCGAGACCCGACGC chr15:102038024-Alternative-T;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Variant A agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AGGAGGTTGTGC CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAaggaggttgtgcAGATCGAGACCCGACGC chr15:102038024-Variant-A;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Variant A agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AAGCGTATCGTT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccAgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAaagcgtatcgttAGATCGAGACCCGACGC chr15:102038024-Variant-A;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative C agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CGGTCTGGTAGA CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAcggtctggtagaAGATCGAGACCCGACGC chr15:102038024-Alternative-C;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative T agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CGCGTTGATTAA CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAcgcgttgattaaAGATCGAGACCCGACGC chr15:102038024-Alternative-T;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative T agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AGTATTCCGGAC CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAagtattccggacAGATCGAGACCCGACGC chr15:102038024-Alternative-T;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative T agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AACTTGCTACCT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAaacttgctacctAGATCGAGACCCGACGC chr15:102038024-Alternative-T;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Reference G agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc GCATATCAGTGT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAgcatatcagtgtAGATCGAGACCCGACGC chr15:102038024-Reference-G;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative T agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CATAACTCTTCG CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccTgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAcataactcttcgAGATCGAGACCCGACGC chr15:102038024-Alternative-T;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Reference G agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AGTGACCGCCTT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAagtgaccgccttAGATCGAGACCCGACGC chr15:102038024-Reference-G;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative C agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AATGCTCAGTAC CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAaatgctcagtacAGATCGAGACCCGACGC chr15:102038024-Alternative-C;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative C agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CAGATGTTAGCT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAcagatgttagctAGATCGAGACCCGACGC chr15:102038024-Alternative-C;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative C agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc CTACGGAGGTCA CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAActacggaggtcaAGATCGAGACCCGACGC chr15:102038024-Alternative-C;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Alternative C agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc ACTAAGTACGCT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccCgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAactaagtacgctAGATCGAGACCCGACGC chr15:102038024-Alternative-C;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Reference G agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc GGCCGAGAATGT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAggccgagaatgtAGATCGAGACCCGACGC chr15:102038024-Reference-G;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Reference G agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc ACTTCTTGGTCA CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAacttcttggtcaAGATCGAGACCCGACGC chr15:102038024-Reference-G;Patient-55 chr15:102038024-GA Inherited Patient-55 intergenic 3.2e-05 0.000513 0.25 6.51 1.8 PCSK6 7836 Reference G agactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccaccccc AGTGGCTCGTGT CGACGCGGTCTCTCTCTagactgtcattgagtctggttgtttctactttgaaatccgttcagagtccGgccacttctcaccacgccccctgctacgtccctgggccgagccacccccAGAGGGAGACGGACGTCTCAATAAagtggctcgtgtAGATCGAGACCCGACGC chr15:102038024-Reference-G;Patient-55 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative T tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CAGATCCGTACT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAcagatccgtactAGATCGAGACCCGACGC chr15:102322964-Alternative-T;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative T tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg GTGACTTACGAT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAgtgacttacgatAGATCGAGACCCGACGC chr15:102322964-Alternative-T;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative T tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg AGAATAACGTCG CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAagaataacgtcgAGATCGAGACCCGACGC chr15:102322964-Alternative-T;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Reference G tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg AGTAGCTTCGAT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAagtagcttcgatAGATCGAGACCCGACGC chr15:102322964-Reference-G;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Variant A tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg GATTAGACGGAC CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAgattagacggacAGATCGAGACCCGACGC chr15:102322964-Variant-A;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative T tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CATCTCGCATCG CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAcatctcgcatcgAGATCGAGACCCGACGC chr15:102322964-Alternative-T;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative T tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CTGAGTGCGCAA CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcTcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAActgagtgcgcaaAGATCGAGACCCGACGC chr15:102322964-Alternative-T;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Variant A tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CGGCTGATGGAA CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAcggctgatggaaAGATCGAGACCCGACGC chr15:102322964-Variant-A;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Variant A tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CTTGACACGCGA CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAActtgacacgcgaAGATCGAGACCCGACGC chr15:102322964-Variant-A;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative C tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg AGTTGGCGAGCT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAagttggcgagctAGATCGAGACCCGACGC chr15:102322964-Alternative-C;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative C tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg AACGGTCGTCGA CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAaacggtcgtcgaAGATCGAGACCCGACGC chr15:102322964-Alternative-C;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative C tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg ACCTTATGCCGG CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAaccttatgccggAGATCGAGACCCGACGC chr15:102322964-Alternative-C;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative C tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg GATACGAATACG CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAgatacgaatacgAGATCGAGACCCGACGC chr15:102322964-Alternative-C;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Variant A tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg AGATCGGCACAC CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAagatcggcacacAGATCGAGACCCGACGC chr15:102322964-Variant-A;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Variant A tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CTAACGCTCGCT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcAcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAActaacgctcgctAGATCGAGACCCGACGC chr15:102322964-Variant-A;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Reference G tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg GGATCGAACAGT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAggatcgaacagtAGATCGAGACCCGACGC chr15:102322964-Reference-G;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Alternative C tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg ATAGCCTGATAC CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcCcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAatagcctgatacAGATCGAGACCCGACGC chr15:102322964-Alternative-C;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Reference G tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CGGTCGTCATCA CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAcggtcgtcatcaAGATCGAGACCCGACGC chr15:102322964-Reference-G;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Reference G tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg CGACACAGGAGT CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAcgacacaggagtAGATCGAGACCCGACGC chr15:102322964-Reference-G;Patient-54 chr15:102322964-GA DeNovo Patient-54 intergenic 0.000127 0.00154 -0.51 0.08 -0.24 TARSL2 58318 Reference G tctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgagg ACGCGTATACAG CGACGCGGTCTCTCTCTtctaatatctgtaacaacataaagattttgggccagatgcggtggcttgcGcctgtaatcccagcactttgggagcctgaggcgggtggatcacctgaggAGAGGGAGACGGACGTCTCAATAAacgcgtatacagAGATCGAGACCCGACGC chr15:102322964-Reference-G;Patient-54 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Reference G gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa AGCCTTACAAGG CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAagccttacaaggAGATCGAGACCCGACGC chr15:25058447-Reference-G;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Variant A gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa ACTTCTCGAGTT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAacttctcgagttAGATCGAGACCCGACGC chr15:25058447-Variant-A;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative C gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa AACCGGTTAGAA CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAaaccggttagaaAGATCGAGACCCGACGC chr15:25058447-Alternative-C;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Variant A gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GACGTTCGTGGT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgacgttcgtggtAGATCGAGACCCGACGC chr15:25058447-Variant-A;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative T gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa AGCTACGACACG CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAagctacgacacgAGATCGAGACCCGACGC chr15:25058447-Alternative-T;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Variant A gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GATTCGCGATCG CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgattcgcgatcgAGATCGAGACCCGACGC chr15:25058447-Variant-A;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative T gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa CATAGGCTCAAT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAcataggctcaatAGATCGAGACCCGACGC chr15:25058447-Alternative-T;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative C gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa AGTTGTATCGAG CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAagttgtatcgagAGATCGAGACCCGACGC chr15:25058447-Alternative-C;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Reference G gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa AATAACACGGAC CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAaataacacggacAGATCGAGACCCGACGC chr15:25058447-Reference-G;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Reference G gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GTGCTACTGGAC CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgtgctactggacAGATCGAGACCCGACGC chr15:25058447-Reference-G;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Reference G gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GATGCTCAACGC CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgatgctcaacgcAGATCGAGACCCGACGC chr15:25058447-Reference-G;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Variant A gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GATCGACGGTTC CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgatcgacggttcAGATCGAGACCCGACGC chr15:25058447-Variant-A;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Variant A gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa CTGTCGCTTCCT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaAgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAActgtcgcttcctAGATCGAGACCCGACGC chr15:25058447-Variant-A;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative C gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GCATCAACGGAG CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgcatcaacggagAGATCGAGACCCGACGC chr15:25058447-Alternative-C;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative T gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GAGGTGACGGTT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgaggtgacggttAGATCGAGACCCGACGC chr15:25058447-Alternative-T;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative C gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa ATCCGTGGAGCT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAatccgtggagctAGATCGAGACCCGACGC chr15:25058447-Alternative-C;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative T gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GCACGATTATGT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAgcacgattatgtAGATCGAGACCCGACGC chr15:25058447-Alternative-T;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative C gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa GGCTAGTCTCCT CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaCgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAggctagtctcctAGATCGAGACCCGACGC chr15:25058447-Alternative-C;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Reference G gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa CTGTGTTCATCA CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaGgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAActgtgttcatcaAGATCGAGACCCGACGC chr15:25058447-Reference-G;Patient-10 chr15:25058447-GA DeNovo Patient-10 intergenic NA 0.000513 0.27 6.79 1.31 SNRPN 10346 Alternative T gaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaa CAGCGTGGTATC CGACGCGGTCTCTCTCTgaaacagcatggcccatgggagggactctacagtggattgaggatgaggaTgctggagaagaggctgaggggagtcagggctcacatcctgtcctgagaaAGAGGGAGACGGACGTCTCAATAAcagcgtggtatcAGATCGAGACCCGACGC chr15:25058447-Alternative-T;Patient-10 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Reference G acacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgag CTAACGGTCGAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAActaacggtcgacAGATCGAGACCCGACGC chr15:25140606-Reference-G;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Reference G acacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgag CGACTAAGGCGA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcgactaaggcgaAGATCGAGACCCGACGC chr15:25140606-Reference-G;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative T acacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgag GGCTCACAAGTC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAggctcacaagtcAGATCGAGACCCGACGC chr15:25140606-Alternative-T;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative T acacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgag ATCTTAATCCGG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAatcttaatccggAGATCGAGACCCGACGC chr15:25140606-Alternative-T;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Reference G acacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgag CATGTTCCGAAT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcatgttccgaatAGATCGAGACCCGACGC chr15:25140606-Reference-G;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative T acacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgag AATGGCTGCGAG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAaatggctgcgagAGATCGAGACCCGACGC chr15:25140606-Alternative-T;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Reference G acacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgag AGCATGCGAACC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAagcatgcgaaccAGATCGAGACCCGACGC chr15:25140606-Reference-G;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Reference G acacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgag GGTCGGTCTGTT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatGactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAggtcggtctgttAGATCGAGACCCGACGC chr15:25140606-Reference-G;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative A acacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgag GTACCAGGTATT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAgtaccaggtattAGATCGAGACCCGACGC chr15:25140606-Alternative-A;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Variant C acacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgag CTCATGTCACAG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAActcatgtcacagAGATCGAGACCCGACGC chr15:25140606-Variant-C;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Variant C acacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgag AGGCTTATCGAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAaggcttatcgacAGATCGAGACCCGACGC chr15:25140606-Variant-C;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative T acacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgag CGGAATGGTACG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcggaatggtacgAGATCGAGACCCGACGC chr15:25140606-Alternative-T;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative A acacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgag GGCTACAATAAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAggctacaataacAGATCGAGACCCGACGC chr15:25140606-Alternative-A;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative T acacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgag CGGAACATCATT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatTactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcggaacatcattAGATCGAGACCCGACGC chr15:25140606-Alternative-T;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Variant C acacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgag GTAGTAAGGAAC CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAgtagtaaggaacAGATCGAGACCCGACGC chr15:25140606-Variant-C;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Variant C acacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgag CGACAGTCGATA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcgacagtcgataAGATCGAGACCCGACGC chr15:25140606-Variant-C;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative A acacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgag AGTTGTGTATCG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAagttgtgtatcgAGATCGAGACCCGACGC chr15:25140606-Alternative-A;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Variant C acacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgag CGTCAAGTGTTA CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatCactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAcgtcaagtgttaAGATCGAGACCCGACGC chr15:25140606-Variant-C;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative A acacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgag GACGTTGGAACG CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAgacgttggaacgAGATCGAGACCCGACGC chr15:25140606-Alternative-A;Patient-54 chr15:25140606-GC Inherited Patient-54 intronic SNRPN NA 0.00016 0.05 3.46 0.49 SNURF 59463 Alternative A acacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgag AGAGTTGTGAGT CGACGCGGTCTCTCTCTacacacacacacacacacacacacacacacacggacaacacattccctatAactatcttaaaattgattaacctcaaacatttaattttggatgactgagAGAGGGAGACGGACGTCTCAATAAagagttgtgagtAGATCGAGACCCGACGC chr15:25140606-Alternative-A;Patient-54 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Reference T tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GATCGTACGGAG CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgatcgtacggagAGATCGAGACCCGACGC chr15:25628747-Reference-T;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative G tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GCAGTCATTGAA CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgcagtcattgaaAGATCGAGACCCGACGC chr15:25628747-Alternative-G;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative G tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa ACTTCGTTATGC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAacttcgttatgcAGATCGAGACCCGACGC chr15:25628747-Alternative-G;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Reference T tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GCATTCTATGCT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgcattctatgctAGATCGAGACCCGACGC chr15:25628747-Reference-T;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Reference T tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GTGTTGGATAGA CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgtgttggatagaAGATCGAGACCCGACGC chr15:25628747-Reference-T;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Variant C tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa AATCGATCGTCT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAaatcgatcgtctAGATCGAGACCCGACGC chr15:25628747-Variant-C;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative G tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GTCGACGCATAT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgtcgacgcatatAGATCGAGACCCGACGC chr15:25628747-Alternative-G;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Reference T tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa CTGCTGTACGCT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAActgctgtacgctAGATCGAGACCCGACGC chr15:25628747-Reference-T;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Reference T tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GACATACTCCGG CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaTtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgacatactccggAGATCGAGACCCGACGC chr15:25628747-Reference-T;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative A tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GATGTACGACTT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgatgtacgacttAGATCGAGACCCGACGC chr15:25628747-Alternative-A;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Variant C tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa CATTACGTAGGT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAcattacgtaggtAGATCGAGACCCGACGC chr15:25628747-Variant-C;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative A tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa CGACACGTGTAC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAcgacacgtgtacAGATCGAGACCCGACGC chr15:25628747-Alternative-A;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Variant C tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa AGTACTCAACAC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAagtactcaacacAGATCGAGACCCGACGC chr15:25628747-Variant-C;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Variant C tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa ACAAGTTCGTCA CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAacaagttcgtcaAGATCGAGACCCGACGC chr15:25628747-Variant-C;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative A tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GTAATTCTGCGA CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgtaattctgcgaAGATCGAGACCCGACGC chr15:25628747-Alternative-A;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative A tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa AGAGTTGCCTTA CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAagagttgccttaAGATCGAGACCCGACGC chr15:25628747-Alternative-A;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Variant C tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GGACAGTTGGAC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaCtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAggacagttggacAGATCGAGACCCGACGC chr15:25628747-Variant-C;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative A tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa GATATAGTCGTC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaAtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAgatatagtcgtcAGATCGAGACCCGACGC chr15:25628747-Alternative-A;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative G tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa CTTGTTCTCCGC CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAActtgttctccgcAGATCGAGACCCGACGC chr15:25628747-Alternative-G;Patient-53 chr15:25628747-TC DeNovo Patient-53 intronic UBE3A 9.6e-05 4.63e-05 -0.28 0.41 -0.22 UBE3A 55427 Alternative G tcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaa CGGAGTGTACGT CGACGCGGTCTCTCTCTtcacttgagaacccgggaggcggagctggcagtgaggtgagatagcatcaGtgcactccagcctgggtgacaagagcaagattctgtctcaaaaaaacaaAGAGGGAGACGGACGTCTCAATAAcggagtgtacgtAGATCGAGACCCGACGC chr15:25628747-Alternative-G;Patient-53 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Variant C tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg ATATGCGGTGAA CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAatatgcggtgaaAGATCGAGACCCGACGC chr15:29229429-Variant-C;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Variant C tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg AGTCGTACTCTT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAagtcgtactcttAGATCGAGACCCGACGC chr15:29229429-Variant-C;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Variant C tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg ATAGGTCGGCTT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAataggtcggcttAGATCGAGACCCGACGC chr15:29229429-Variant-C;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Variant C tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg ACCGAGTATCGA CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAaccgagtatcgaAGATCGAGACCCGACGC chr15:29229429-Variant-C;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Reference G tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg AGGTTGATACAG CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAaggttgatacagAGATCGAGACCCGACGC chr15:29229429-Reference-G;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative T tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg AACGAGGTACCT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAaacgaggtacctAGATCGAGACCCGACGC chr15:29229429-Alternative-T;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative T tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GATAAGATCGGT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgataagatcggtAGATCGAGACCCGACGC chr15:29229429-Alternative-T;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative T tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg CATGCTACGCAG CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAcatgctacgcagAGATCGAGACCCGACGC chr15:29229429-Alternative-T;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Reference G tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg CACGTCGGAACT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAcacgtcggaactAGATCGAGACCCGACGC chr15:29229429-Reference-G;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Reference G tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GTAGATACCACA CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgtagataccacaAGATCGAGACCCGACGC chr15:29229429-Reference-G;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative T tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg AACGATCAAGGT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAaacgatcaaggtAGATCGAGACCCGACGC chr15:29229429-Alternative-T;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Variant C tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg CGCGTGGTTAGT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaCctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAcgcgtggttagtAGATCGAGACCCGACGC chr15:29229429-Variant-C;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative A tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg ATTCTCGCTCTT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAattctcgctcttAGATCGAGACCCGACGC chr15:29229429-Alternative-A;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative A tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GTTATCCGGATT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgttatccggattAGATCGAGACCCGACGC chr15:29229429-Alternative-A;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Reference G tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GAATTGTTCAGG CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgaattgttcaggAGATCGAGACCCGACGC chr15:29229429-Reference-G;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative A tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GTGCGCTAACGT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgtgcgctaacgtAGATCGAGACCCGACGC chr15:29229429-Alternative-A;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative T tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg CGTCTTGTAACT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaTctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAcgtcttgtaactAGATCGAGACCCGACGC chr15:29229429-Alternative-T;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Reference G tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GCGATCCAAGCA CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaGctaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgcgatccaagcaAGATCGAGACCCGACGC chr15:29229429-Reference-G;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative A tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GCGCTATGCGAT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgcgctatgcgatAGATCGAGACCCGACGC chr15:29229429-Alternative-A;Patient-7 chr15:29229429-GC DeNovo Patient-7 intronic APBA2 NA 0.00016 0.11 4.48 1.89 APBA2 15588 Alternative A tgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccgggg GAATTGCGTCAT CGACGCGGTCTCTCTCTtgtgctgccaggaggggcaccagaagaggtgtcatacagtggcatgctgaActaggatttgaggcacttcctgcctcttctagttccttgtgggccggggAGAGGGAGACGGACGTCTCAATAAgaattgcgtcatAGATCGAGACCCGACGC chr15:29229429-Alternative-A;Patient-7 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Reference C ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttccc CGCTGGTTATGG CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcgctggttatggAGATCGAGACCCGACGC chr15:30106958-Reference-C;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Reference C ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttccc ATTGGACGGTGG CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAattggacggtggAGATCGAGACCCGACGC chr15:30106958-Reference-C;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative G ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttccc CAATGGTGTGGT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcaatggtgtggtAGATCGAGACCCGACGC chr15:30106958-Alternative-G;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative G ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttccc CGACGCAGAGAT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcgacgcagagatAGATCGAGACCCGACGC chr15:30106958-Alternative-G;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Reference C ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttccc CAGCTAAGGTAA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcagctaaggtaaAGATCGAGACCCGACGC chr15:30106958-Reference-C;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Reference C ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttccc ATCGTCATATCG CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAatcgtcatatcgAGATCGAGACCCGACGC chr15:30106958-Reference-C;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Reference C ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttccc AAGTAACCGCAA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcCggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAaagtaaccgcaaAGATCGAGACCCGACGC chr15:30106958-Reference-C;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative A ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttccc GGAACGGTATCG CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAggaacggtatcgAGATCGAGACCCGACGC chr15:30106958-Alternative-A;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative A ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttccc GAGATCCGCAAT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAgagatccgcaatAGATCGAGACCCGACGC chr15:30106958-Alternative-A;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative A ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttccc CGAGTGGCTTGT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcgagtggcttgtAGATCGAGACCCGACGC chr15:30106958-Alternative-A;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Variant T ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttccc GCGAGGTACAGT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAgcgaggtacagtAGATCGAGACCCGACGC chr15:30106958-Variant-T;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative G ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttccc ACGCTGTTCGCT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAacgctgttcgctAGATCGAGACCCGACGC chr15:30106958-Alternative-G;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Variant T ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttccc CAACAACGCGAT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcaacaacgcgatAGATCGAGACCCGACGC chr15:30106958-Variant-T;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative G ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttccc CGCTATGGAGCA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcgctatggagcaAGATCGAGACCCGACGC chr15:30106958-Alternative-G;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative G ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttccc CATTACGAGTGG CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcGggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAcattacgagtggAGATCGAGACCCGACGC chr15:30106958-Alternative-G;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Variant T ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttccc GATACGCCAACC CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAgatacgccaaccAGATCGAGACCCGACGC chr15:30106958-Variant-T;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative A ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttccc AAGCGGAACTTA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAaagcggaacttaAGATCGAGACCCGACGC chr15:30106958-Alternative-A;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Variant T ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttccc GCAGTTCCAATA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAgcagttccaataAGATCGAGACCCGACGC chr15:30106958-Variant-T;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Alternative A ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttccc ACGCGTTCTCGA CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcAggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAAacgcgttctcgaAGATCGAGACCCGACGC chr15:30106958-Alternative-A;Patient-30 chr15:30106958-CT Inherited Patient-30 intronic TJP1 0.000446 9.9e-05 NA NA NA TJP1 7747 Variant T ctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttccc CTATCAGCGTAT CGACGCGGTCTCTCTCTctaattagaatccacagaaagtaatatcagcttctgttttacctcctttcTggacatgataaactagaattgagatcattcaccagttaactcacttcccAGAGGGAGACGGACGTCTCAATAActatcagcgtatAGATCGAGACCCGACGC chr15:30106958-Variant-T;Patient-30 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Reference G tgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttga AGCGTCCTATCG CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAagcgtcctatcgAGATCGAGACCCGACGC chr15:31225098-Reference-G;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Reference G tgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GGTTGCCTCGAA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAggttgcctcgaaAGATCGAGACCCGACGC chr15:31225098-Reference-G;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative T tgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CTGAGATATTGC CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAActgagatattgcAGATCGAGACCCGACGC chr15:31225098-Alternative-T;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative T tgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttga ATTGCCGAACTA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAattgccgaactaAGATCGAGACCCGACGC chr15:31225098-Alternative-T;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative T tgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GGTCGACGCAAT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAggtcgacgcaatAGATCGAGACCCGACGC chr15:31225098-Alternative-T;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Reference G tgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttga AGTTGTTGCGGC CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAagttgttgcggcAGATCGAGACCCGACGC chr15:31225098-Reference-G;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative T tgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CACAATTGACGG CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAcacaattgacggAGATCGAGACCCGACGC chr15:31225098-Alternative-T;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Reference G tgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttga ATTCTCGCGGAG CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAattctcgcggagAGATCGAGACCCGACGC chr15:31225098-Reference-G;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Reference G tgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GACGGTAATCAA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttGtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAgacggtaatcaaAGATCGAGACCCGACGC chr15:31225098-Reference-G;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative T tgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CGGAAGACGAGT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttTtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAcggaagacgagtAGATCGAGACCCGACGC chr15:31225098-Alternative-T;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Variant A tgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttga AAGGCTCCGACT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAaaggctccgactAGATCGAGACCCGACGC chr15:31225098-Variant-A;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative C tgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GCGTCCGTCATA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAgcgtccgtcataAGATCGAGACCCGACGC chr15:31225098-Alternative-C;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Variant A tgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CTTGTAGTCTAC CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAActtgtagtctacAGATCGAGACCCGACGC chr15:31225098-Variant-A;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Variant A tgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CTCATTCTGGCG CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAActcattctggcgAGATCGAGACCCGACGC chr15:31225098-Variant-A;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative C tgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CGTGGAGTTGCT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAcgtggagttgctAGATCGAGACCCGACGC chr15:31225098-Alternative-C;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Variant A tgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttga CTTAAGGTCTGA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAActtaaggtctgaAGATCGAGACCCGACGC chr15:31225098-Variant-A;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative C tgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GATAGGAGTCAT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAgataggagtcatAGATCGAGACCCGACGC chr15:31225098-Alternative-C;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative C tgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttga GGATGGTTGATA CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAggatggttgataAGATCGAGACCCGACGC chr15:31225098-Alternative-C;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Alternative C tgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttga AGAGCAGGTACG CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttCtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAagagcaggtacgAGATCGAGACCCGACGC chr15:31225098-Alternative-C;Patient-24 chr15:31225098-GA Inherited Patient-24 intronic FAN1 NA 4.95e-05 -0.22 0.62 -0.3 FAN1 29042 Variant A tgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttga ATAGCTTACGGT CGACGCGGTCTCTCTCTtgggattacagctgtgcaccaccatgcctggataatttttttttttttttAtatttttagtagagatgaggttttgccatgttggccaggctggtcttgaAGAGGGAGACGGACGTCTCAATAAatagcttacggtAGATCGAGACCCGACGC chr15:31225098-Variant-A;Patient-24 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative G gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GACCAATTAACC CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAgaccaattaaccAGATCGAGACCCGACGC chr15:31252032-Alternative-G;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative G gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CTTGATAACACG CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAActtgataacacgAGATCGAGACCCGACGC chr15:31252032-Alternative-G;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative G gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca AGACGCACGTTC CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAagacgcacgttcAGATCGAGACCCGACGC chr15:31252032-Alternative-G;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative G gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GGTATGCTCGAC CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAggtatgctcgacAGATCGAGACCCGACGC chr15:31252032-Alternative-G;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative G gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CACTATGTTCGT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcGgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAcactatgttcgtAGATCGAGACCCGACGC chr15:31252032-Alternative-G;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Reference T gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GGCGACTATTGA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAggcgactattgaAGATCGAGACCCGACGC chr15:31252032-Reference-T;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Reference T gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CACAGCGAACCT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAcacagcgaacctAGATCGAGACCCGACGC chr15:31252032-Reference-T;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Reference T gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca AAGATCGACTGA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAaagatcgactgaAGATCGAGACCCGACGC chr15:31252032-Reference-T;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Reference T gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CTTGGACTATGA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAActtggactatgaAGATCGAGACCCGACGC chr15:31252032-Reference-T;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Reference T gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CGAACCGCCTTA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcTgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAcgaaccgccttaAGATCGAGACCCGACGC chr15:31252032-Reference-T;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative A gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca ACCGGTACAAGT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAaccggtacaagtAGATCGAGACCCGACGC chr15:31252032-Alternative-A;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative A gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GATCCTCATGAA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAgatcctcatgaaAGATCGAGACCCGACGC chr15:31252032-Alternative-A;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative A gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CTAACAGTCGAT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAActaacagtcgatAGATCGAGACCCGACGC chr15:31252032-Alternative-A;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative A gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca CGAATGCGACGA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAcgaatgcgacgaAGATCGAGACCCGACGC chr15:31252032-Alternative-A;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Alternative A gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GTAGTCAGAATC CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcAgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAgtagtcagaatcAGATCGAGACCCGACGC chr15:31252032-Alternative-A;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Variant C gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca AAGACGCAGACT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAaagacgcagactAGATCGAGACCCGACGC chr15:31252032-Variant-C;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Variant C gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca ATCCGCTGAACC CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAatccgctgaaccAGATCGAGACCCGACGC chr15:31252032-Variant-C;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Variant C gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GTTAGGATGGCG CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAgttaggatggcgAGATCGAGACCCGACGC chr15:31252032-Variant-C;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Variant C gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca ACCGTCGGACAT CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAaccgtcggacatAGATCGAGACCCGACGC chr15:31252032-Variant-C;Patient-55 chr15:31252032-TC Inherited Patient-55 intronic MTMR10 0.000414 0.000198 0.26 6.66 2.12 MTMR10 31774 Variant C gattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggca GTGACGAATCAA CGACGCGGTCTCTCTCTgattaaccagtaataacacagtagtgcttttcttcctttttctaaaaagcCgcttatgtgcgtgaactaatgaggacttcaatgaccttaaaataaggcaAGAGGGAGACGGACGTCTCAATAAgtgacgaatcaaAGATCGAGACCCGACGC chr15:31252032-Variant-C;Patient-55 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Variant A gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg AGACGCGATTAA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAagacgcgattaaAGATCGAGACCCGACGC chr15:31621366-Variant-A;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Variant A gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg ACGAAGACGAAG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAacgaagacgaagAGATCGAGACCCGACGC chr15:31621366-Variant-A;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative G gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CAGTTCCAATGA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcagttccaatgaAGATCGAGACCCGACGC chr15:31621366-Alternative-G;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Reference C gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GTAACGAAGGCA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAgtaacgaaggcaAGATCGAGACCCGACGC chr15:31621366-Reference-C;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Variant A gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GTACGCTCTTCG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAgtacgctcttcgAGATCGAGACCCGACGC chr15:31621366-Variant-A;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative T gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CGGACGTTACCA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcggacgttaccaAGATCGAGACCCGACGC chr15:31621366-Alternative-T;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Variant A gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GCACGATAGCCA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAgcacgatagccaAGATCGAGACCCGACGC chr15:31621366-Variant-A;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Reference C gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg AGCTGAATCGCA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAagctgaatcgcaAGATCGAGACCCGACGC chr15:31621366-Reference-C;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Reference C gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CGCTCTAGTACG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcgctctagtacgAGATCGAGACCCGACGC chr15:31621366-Reference-C;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Reference C gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CGCTACAACGAT CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcgctacaacgatAGATCGAGACCCGACGC chr15:31621366-Reference-C;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative T gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GTGGCAGTACAG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAgtggcagtacagAGATCGAGACCCGACGC chr15:31621366-Alternative-T;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Variant A gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GGACGATAAGTT CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcAatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAggacgataagttAGATCGAGACCCGACGC chr15:31621366-Variant-A;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Reference C gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg ACTGGTCGCAAG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcCatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAactggtcgcaagAGATCGAGACCCGACGC chr15:31621366-Reference-C;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative T gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg ACCATTGCGACG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAaccattgcgacgAGATCGAGACCCGACGC chr15:31621366-Alternative-T;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative T gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CAACGTCTACGG CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcaacgtctacggAGATCGAGACCCGACGC chr15:31621366-Alternative-T;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative T gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CGATCTCGATCA CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcTatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcgatctcgatcaAGATCGAGACCCGACGC chr15:31621366-Alternative-T;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative G gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CGCAATGTCATT CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAcgcaatgtcattAGATCGAGACCCGACGC chr15:31621366-Alternative-G;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative G gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg CTATCTGACATC CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAActatctgacatcAGATCGAGACCCGACGC chr15:31621366-Alternative-G;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative G gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg GTAGCTACCATT CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAgtagctaccattAGATCGAGACCCGACGC chr15:31621366-Alternative-G;Patient-101 chr15:31621366-CA DeNovo Patient-101 intronic KLF13 0.000193 9.9e-05 0.28 6.92 1.38 KLF13 2282 Alternative G gccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttgggg AATGATTGCGTC CGACGCGGTCTCTCTCTgccgctccaaaccacgtggcaggtgatggggtagagggtgagagcggggcGatttctaggcattcggggtcagttaagggtgtgggggctcaggttggggAGAGGGAGACGGACGTCTCAATAAaatgattgcgtcAGATCGAGACCCGACGC chr15:31621366-Alternative-G;Patient-101 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Variant A ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt AGAAGTGATCCA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAagaagtgatccaAGATCGAGACCCGACGC chr15:32265185-Variant-A;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Variant A ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GTGTCTTGTACT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgtgtcttgtactAGATCGAGACCCGACGC chr15:32265185-Variant-A;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative C ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CTCACGGTTATA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAActcacggttataAGATCGAGACCCGACGC chr15:32265185-Alternative-C;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative C ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt ATTACCTCTCCT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAattacctctcctAGATCGAGACCCGACGC chr15:32265185-Alternative-C;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Reference G ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CGGTATCATATC CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcggtatcatatcAGATCGAGACCCGACGC chr15:32265185-Reference-G;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative C ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt ACGGTACAAGCG CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAacggtacaagcgAGATCGAGACCCGACGC chr15:32265185-Alternative-C;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative C ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CAACATCTAGCA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcaacatctagcaAGATCGAGACCCGACGC chr15:32265185-Alternative-C;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative T ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GTTATGGTGAAC CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgttatggtgaacAGATCGAGACCCGACGC chr15:32265185-Alternative-T;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative C ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GTGAGGATCAAT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactCtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgtgaggatcaatAGATCGAGACCCGACGC chr15:32265185-Alternative-C;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Reference G ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GAATCTCGCAAG CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgaatctcgcaagAGATCGAGACCCGACGC chr15:32265185-Reference-G;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Variant A ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GGAGTATCGTAA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAggagtatcgtaaAGATCGAGACCCGACGC chr15:32265185-Variant-A;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative T ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CAGATAGCTAAG CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcagatagctaagAGATCGAGACCCGACGC chr15:32265185-Alternative-T;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative T ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt AGCGCTCCTACA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAagcgctcctacaAGATCGAGACCCGACGC chr15:32265185-Alternative-T;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Variant A ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt AGCCTTACTAAC CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAagccttactaacAGATCGAGACCCGACGC chr15:32265185-Variant-A;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Variant A ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GTGTAACAGGAT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactAtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgtgtaacaggatAGATCGAGACCCGACGC chr15:32265185-Variant-A;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative T ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CGGCGGATTAGT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcggcggattagtAGATCGAGACCCGACGC chr15:32265185-Alternative-T;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Alternative T ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GTCGGCAGGTAA CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactTtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAgtcggcaggtaaAGATCGAGACCCGACGC chr15:32265185-Alternative-T;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Reference G ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CACTTCGTCAAT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcacttcgtcaatAGATCGAGACCCGACGC chr15:32265185-Reference-G;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Reference G ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt GGAGTAGTCAAT CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAggagtagtcaatAGATCGAGACCCGACGC chr15:32265185-Reference-G;Patient-104 chr15:32265185-GA DeNovo Patient-104 intergenic 0.000319 0.000703565 -0.01 2.5 0.57 CHRNA7 57500 Reference G ccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggtt CATATACGTACG CGACGCGGTCTCTCTCTccaagatcgaggcactgacacatctggtgtctggtgaggacccacttactGtttcattgatggcaccttctccctgtgtcctcacatactggaggaggttAGAGGGAGACGGACGTCTCAATAAcatatacgtacgAGATCGAGACCCGACGC chr15:32265185-Reference-G;Patient-104 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative G gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CAGGTACGTTAT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcaggtacgttatAGATCGAGACCCGACGC chr15:32916935-Alternative-G;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Reference T gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CGGCATACGAGA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcggcatacgagaAGATCGAGACCCGACGC chr15:32916935-Reference-T;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Reference T gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GCGTACTTGCGA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgcgtacttgcgaAGATCGAGACCCGACGC chr15:32916935-Reference-T;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative G gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GAAGTGTTCGAT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgaagtgttcgatAGATCGAGACCCGACGC chr15:32916935-Alternative-G;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative A gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg ATTGTAGGCGAA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAattgtaggcgaaAGATCGAGACCCGACGC chr15:32916935-Alternative-A;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Reference T gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GCAAGCAGCACA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgcaagcagcacaAGATCGAGACCCGACGC chr15:32916935-Reference-T;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative A gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg ATATGAGCCTAC CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAatatgagcctacAGATCGAGACCCGACGC chr15:32916935-Alternative-A;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative G gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg AGACGCAATCGC CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAagacgcaatcgcAGATCGAGACCCGACGC chr15:32916935-Alternative-G;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative G gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CTGCGAGCATGT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAActgcgagcatgtAGATCGAGACCCGACGC chr15:32916935-Alternative-G;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Reference T gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GTCGAGTGGCTT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgtcgagtggcttAGATCGAGACCCGACGC chr15:32916935-Reference-T;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative A gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CGTGTTAGATCA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcgtgttagatcaAGATCGAGACCCGACGC chr15:32916935-Alternative-A;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative A gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CAATGATTGACG CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcaatgattgacgAGATCGAGACCCGACGC chr15:32916935-Alternative-A;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Reference T gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CGGCAAGTTAGG CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcTccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcggcaagttaggAGATCGAGACCCGACGC chr15:32916935-Reference-T;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative A gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CTATCGTCGTTA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcAccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAActatcgtcgttaAGATCGAGACCCGACGC chr15:32916935-Alternative-A;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Variant C gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CAACACGACGAG CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcaacacgacgagAGATCGAGACCCGACGC chr15:32916935-Variant-C;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Variant C gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg AATGCAACGAGA CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAaatgcaacgagaAGATCGAGACCCGACGC chr15:32916935-Variant-C;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Variant C gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg CGTTCATACGTT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAcgttcatacgttAGATCGAGACCCGACGC chr15:32916935-Variant-C;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Variant C gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GTCGTAACCTAT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgtcgtaacctatAGATCGAGACCCGACGC chr15:32916935-Variant-C;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Variant C gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg GACGTACGGCTT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcCccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAgacgtacggcttAGATCGAGACCCGACGC chr15:32916935-Variant-C;Patient-87 chr15:32916935-TC DeNovo Patient-87 intronic ARHGAP11A NA 0.000198 0.41 8.47 3.79 ARHGAP11A 9243 Alternative G gtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctg AGCAACCGTCGT CGACGCGGTCTCTCTCTgtttactgggtttttaaaatatttctgttttgcttttcaaaatttccctcGccctgctgtcagtgagcctgcttattctagacatacttgctgccttctgAGAGGGAGACGGACGTCTCAATAAagcaaccgtcgtAGATCGAGACCCGACGC chr15:32916935-Alternative-G;Patient-87 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative C ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GTTGGTGTGGAG CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAgttggtgtggagAGATCGAGACCCGACGC chr15:33002931-Alternative-C;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Reference G ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CAGGTCTTACCT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcaggtcttacctAGATCGAGACCCGACGC chr15:33002931-Reference-G;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative T ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CGAGTCGAAGCA CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcgagtcgaagcaAGATCGAGACCCGACGC chr15:33002931-Alternative-T;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Variant A ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GTCGACTACAAC CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAgtcgactacaacAGATCGAGACCCGACGC chr15:33002931-Variant-A;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative T ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GATGCGCGAATC CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAgatgcgcgaatcAGATCGAGACCCGACGC chr15:33002931-Alternative-T;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Reference G ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc ATCTATGCGGTT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAatctatgcggttAGATCGAGACCCGACGC chr15:33002931-Reference-G;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative T ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc ACTCCGATAGCT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAactccgatagctAGATCGAGACCCGACGC chr15:33002931-Alternative-T;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Variant A ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc ACGTGAGAAGCG CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAacgtgagaagcgAGATCGAGACCCGACGC chr15:33002931-Variant-A;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Variant A ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CGAAGGATATAC CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcgaaggatatacAGATCGAGACCCGACGC chr15:33002931-Variant-A;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Reference G ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CTGTTAATGTGG CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAActgttaatgtggAGATCGAGACCCGACGC chr15:33002931-Reference-G;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Reference G ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CAGAGATGGTGT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcagagatggtgtAGATCGAGACCCGACGC chr15:33002931-Reference-G;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Variant A ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GTGTCGTCGTTC CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAgtgtcgtcgttcAGATCGAGACCCGACGC chr15:33002931-Variant-A;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Reference G ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GGTGTTCACGGT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcGcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAggtgttcacggtAGATCGAGACCCGACGC chr15:33002931-Reference-G;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Variant A ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc ACGTTCCGCCTA CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcAcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAacgttccgcctaAGATCGAGACCCGACGC chr15:33002931-Variant-A;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative C ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CTGCTTGCTGAC CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAActgcttgctgacAGATCGAGACCCGACGC chr15:33002931-Alternative-C;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative C ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GTCTATAAGCGT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAgtctataagcgtAGATCGAGACCCGACGC chr15:33002931-Alternative-C;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative C ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc GGACCTAAGAAG CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAggacctaagaagAGATCGAGACCCGACGC chr15:33002931-Alternative-C;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative T ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CATCTGCGGCTT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcatctgcggcttAGATCGAGACCCGACGC chr15:33002931-Alternative-T;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative C ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc CGACCGCTCTAT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcCcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAcgaccgctctatAGATCGAGACCCGACGC chr15:33002931-Alternative-C;Patient-67 chr15:33002931-GA DeNovo Patient-67 intergenic 0.000656 3.92e-05 -0.22 0.64 0 GREM1 7273 Alternative T ttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgc AGTTCACGACAT CGACGCGGTCTCTCTCTttcttttttttttttgagatggagtctcgttctgtcacccaggctggagcTcagtggcgcaatctcggctcactgcaaactccacctcccggcttcatgcAGAGGGAGACGGACGTCTCAATAAagttcacgacatAGATCGAGACCCGACGC chr15:33002931-Alternative-T;Patient-67 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative T ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag AGGTTCGTAGTT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAaggttcgtagttAGATCGAGACCCGACGC chr15:33030316-Alternative-T;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative T ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag AGGTACGGACTA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAaggtacggactaAGATCGAGACCCGACGC chr15:33030316-Alternative-T;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Reference A ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GTACGCGGACTA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAgtacgcggactaAGATCGAGACCCGACGC chr15:33030316-Reference-A;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative T ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CTGAGACATCTA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAActgagacatctaAGATCGAGACCCGACGC chr15:33030316-Alternative-T;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative G ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CTCACGAAGAGT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAActcacgaagagtAGATCGAGACCCGACGC chr15:33030316-Alternative-G;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative T ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GCAGTGCATCAA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAgcagtgcatcaaAGATCGAGACCCGACGC chr15:33030316-Alternative-T;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative T ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CGTTACCGTCGT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAcgttaccgtcgtAGATCGAGACCCGACGC chr15:33030316-Alternative-T;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative G ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CGTCGAACGTTC CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAcgtcgaacgttcAGATCGAGACCCGACGC chr15:33030316-Alternative-G;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Reference A ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GTTCTACGCATT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAgttctacgcattAGATCGAGACCCGACGC chr15:33030316-Reference-A;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Reference A ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CTCGTATCGTTA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAActcgtatcgttaAGATCGAGACCCGACGC chr15:33030316-Reference-A;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Reference A ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GGCGTGATCGTT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAggcgtgatcgttAGATCGAGACCCGACGC chr15:33030316-Reference-A;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Variant C ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GCACCACATTGT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAgcaccacattgtAGATCGAGACCCGACGC chr15:33030316-Variant-C;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Variant C ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GGCTACGGTACT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAggctacggtactAGATCGAGACCCGACGC chr15:33030316-Variant-C;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Reference A ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GGAGATAGACAC CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAggagatagacacAGATCGAGACCCGACGC chr15:33030316-Reference-A;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Variant C ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GACTGGCATAAT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAgactggcataatAGATCGAGACCCGACGC chr15:33030316-Variant-C;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Variant C ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag AGGTTGGACGAC CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAaggttggacgacAGATCGAGACCCGACGC chr15:33030316-Variant-C;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Variant C ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CGATAACGTTCA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAcgataacgttcaAGATCGAGACCCGACGC chr15:33030316-Variant-C;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative G ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag CGAATTACTGGT CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAcgaattactggtAGATCGAGACCCGACGC chr15:33030316-Alternative-G;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative G ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag ATCGACCAAGAA CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAatcgaccaagaaAGATCGAGACCCGACGC chr15:33030316-Alternative-G;Patient-61 chr15:33030316-AC Inherited Patient-61 intergenic 0.000303 0.0554 -0.13 1.11 0.05 GREM1 20110 Alternative G ctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaag GGTGTCGATGAG CGACGCGGTCTCTCTCTctacctagggtaattaggcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagaaaagaaaaaagtcatccagattggaaaagAGAGGGAGACGGACGTCTCAATAAggtgtcgatgagAGATCGAGACCCGACGC chr15:33030316-Alternative-G;Patient-61 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Reference G atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GCAAGCGATAGA CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAgcaagcgatagaAGATCGAGACCCGACGC chr15:34179481-Reference-G;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative C atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AAGGCTGATCAT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAaaggctgatcatAGATCGAGACCCGACGC chr15:34179481-Alternative-C;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative A atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga ATAGGACGGCGT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAataggacggcgtAGATCGAGACCCGACGC chr15:34179481-Alternative-A;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative A atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GTCGAGAGCAGT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAgtcgagagcagtAGATCGAGACCCGACGC chr15:34179481-Alternative-A;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative C atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AGCTATCAACGA CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAagctatcaacgaAGATCGAGACCCGACGC chr15:34179481-Alternative-C;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative A atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AACGCTATACAC CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAaacgctatacacAGATCGAGACCCGACGC chr15:34179481-Alternative-A;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Variant T atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AGTGTTCTAGCA CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAagtgttctagcaAGATCGAGACCCGACGC chr15:34179481-Variant-T;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative C atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga CGACGACTAATT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAcgacgactaattAGATCGAGACCCGACGC chr15:34179481-Alternative-C;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Reference G atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga ACACGAACCTAA CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAacacgaacctaaAGATCGAGACCCGACGC chr15:34179481-Reference-G;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Reference G atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga ACATGCTGTCTT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAacatgctgtcttAGATCGAGACCCGACGC chr15:34179481-Reference-G;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Variant T atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga CTTACAGTCGTT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAActtacagtcgttAGATCGAGACCCGACGC chr15:34179481-Variant-T;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Reference G atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GACATGCCACAT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAgacatgccacatAGATCGAGACCCGACGC chr15:34179481-Reference-G;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Reference G atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga CGTCGTAGAGCT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaGgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAcgtcgtagagctAGATCGAGACCCGACGC chr15:34179481-Reference-G;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Variant T atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AAGTACGTTCGT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAaagtacgttcgtAGATCGAGACCCGACGC chr15:34179481-Variant-T;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Variant T atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GGCGAACGTACT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAggcgaacgtactAGATCGAGACCCGACGC chr15:34179481-Variant-T;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative A atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GGAGGAATTATC CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAggaggaattatcAGATCGAGACCCGACGC chr15:34179481-Alternative-A;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative C atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GACGGTAAGGAT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAgacggtaaggatAGATCGAGACCCGACGC chr15:34179481-Alternative-C;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative A atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga GACTGATCAGCT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaAgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAgactgatcagctAGATCGAGACCCGACGC chr15:34179481-Alternative-A;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Alternative C atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AGTTACCATGAG CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaCgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAagttaccatgagAGATCGAGACCCGACGC chr15:34179481-Alternative-C;Patient-54 chr15:34179481-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.22 0.64 -1.88 CHRM5 81607 Variant T atgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttga AGCGGTTGTCCT CGACGCGGTCTCTCTCTatgggaccaaactacttgagaaatagctagttaataagggtcagcttctaTgggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaAGAGGGAGACGGACGTCTCAATAAagcggttgtcctAGATCGAGACCCGACGC chr15:34179481-Variant-T;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative A tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CGATAGTCAGTT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAcgatagtcagttAGATCGAGACCCGACGC chr15:34179482-Alternative-A;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative A tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CTAAGCGAAGAA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAActaagcgaagaaAGATCGAGACCCGACGC chr15:34179482-Alternative-A;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Reference G tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa AGGAACGGCCAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAaggaacggccatAGATCGAGACCCGACGC chr15:34179482-Reference-G;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative C tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CGATCATCAACA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAcgatcatcaacaAGATCGAGACCCGACGC chr15:34179482-Alternative-C;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative C tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CTCGTAATATGG CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAActcgtaatatggAGATCGAGACCCGACGC chr15:34179482-Alternative-C;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative C tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CAGTACCAGATT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAcagtaccagattAGATCGAGACCCGACGC chr15:34179482-Alternative-C;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Variant T tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa ACTCTGCCGGAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAactctgccggatAGATCGAGACCCGACGC chr15:34179482-Variant-T;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Variant T tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa ACTGGCGTGGTT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAactggcgtggttAGATCGAGACCCGACGC chr15:34179482-Variant-T;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative C tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GTACCAAGTCAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAgtaccaagtcatAGATCGAGACCCGACGC chr15:34179482-Alternative-C;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative C tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GATCGGCAACGA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagCggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAgatcggcaacgaAGATCGAGACCCGACGC chr15:34179482-Alternative-C;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Variant T tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa ACGTGAGGCGAA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAacgtgaggcgaaAGATCGAGACCCGACGC chr15:34179482-Variant-T;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative A tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GTCGCTCGTTCA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAgtcgctcgttcaAGATCGAGACCCGACGC chr15:34179482-Alternative-A;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative A tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GCGCCGTCATAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAgcgccgtcatatAGATCGAGACCCGACGC chr15:34179482-Alternative-A;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Alternative A tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa ACGATTCATGCA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagAggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAacgattcatgcaAGATCGAGACCCGACGC chr15:34179482-Alternative-A;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Reference G tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GGTCGGACTTGA CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAggtcggacttgaAGATCGAGACCCGACGC chr15:34179482-Reference-G;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Reference G tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CTAGAATGCGCG CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAActagaatgcgcgAGATCGAGACCCGACGC chr15:34179482-Reference-G;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Reference G tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa GTGTATGTAGTC CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAgtgtatgtagtcAGATCGAGACCCGACGC chr15:34179482-Reference-G;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Reference G tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CAGTTGTTCCAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagGggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAcagttgttccatAGATCGAGACCCGACGC chr15:34179482-Reference-G;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Variant T tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa CATTCGCGCGAT CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAcattcgcgcgatAGATCGAGACCCGACGC chr15:34179482-Variant-T;Patient-54 chr15:34179482-GT DeNovo Patient-54 intronic AVEN 0.000669 4.95e-05 -0.03 2.21 0.41 CHRM5 81606 Variant T tgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaa ATCGACGCAGTC CGACGCGGTCTCTCTCTtgggaccaaactacttgagaaatagctagttaataagggtcagcttctagTggagggattgtgctcactaaaccatgagttgtctcccaaccattttgaaAGAGGGAGACGGACGTCTCAATAAatcgacgcagtcAGATCGAGACCCGACGC chr15:34179482-Variant-T;Patient-54 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative G tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgcc GGTCGAAGCTGA CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAggtcgaagctgaAGATCGAGACCCGACGC chr15:34989511-Alternative-G;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Reference T tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgcc ATCGCTTGTAGT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAatcgcttgtagtAGATCGAGACCCGACGC chr15:34989511-Reference-T;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative A tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgcc ACTGCATCGTTA CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAactgcatcgttaAGATCGAGACCCGACGC chr15:34989511-Alternative-A;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative A tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgcc GACAACACCTTA CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgacaacaccttaAGATCGAGACCCGACGC chr15:34989511-Alternative-A;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Variant C tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgcc GCGATAAGACCT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgcgataagacctAGATCGAGACCCGACGC chr15:34989511-Variant-C;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Reference T tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgcc GATGACAAGGTT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgatgacaaggttAGATCGAGACCCGACGC chr15:34989511-Reference-T;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative A tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgcc GTACGTAAGAAG CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgtacgtaagaagAGATCGAGACCCGACGC chr15:34989511-Alternative-A;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative G tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgcc AGCTTAGATCGC CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAagcttagatcgcAGATCGAGACCCGACGC chr15:34989511-Alternative-G;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Variant C tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgcc GGTCTTGGAATT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAggtcttggaattAGATCGAGACCCGACGC chr15:34989511-Variant-C;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative A tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgcc CTCGCTATCCGT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAActcgctatccgtAGATCGAGACCCGACGC chr15:34989511-Alternative-A;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative A tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgcc AAGTACTACGTC CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccAacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAaagtactacgtcAGATCGAGACCCGACGC chr15:34989511-Alternative-A;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Reference T tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgcc CTGCTCGTAGAA CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAActgctcgtagaaAGATCGAGACCCGACGC chr15:34989511-Reference-T;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative G tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgcc CATCGGATGCCT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAcatcggatgcctAGATCGAGACCCGACGC chr15:34989511-Alternative-G;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative G tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgcc GATATGTCGACG CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgatatgtcgacgAGATCGAGACCCGACGC chr15:34989511-Alternative-G;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Variant C tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgcc AGGCGAACGAAC CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAaggcgaacgaacAGATCGAGACCCGACGC chr15:34989511-Variant-C;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Reference T tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgcc CGACGGTCAACT CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAcgacggtcaactAGATCGAGACCCGACGC chr15:34989511-Reference-T;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Alternative G tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgcc GATGAACTCGGC CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccGacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgatgaactcggcAGATCGAGACCCGACGC chr15:34989511-Alternative-G;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Variant C tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgcc CTGTGGACGAAG CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAActgtggacgaagAGATCGAGACCCGACGC chr15:34989511-Variant-C;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Variant C tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgcc GAGATAGTCGGC CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccCacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAgagatagtcggcAGATCGAGACCCGACGC chr15:34989511-Variant-C;Patient-98 chr15:34989511-TC DeNovo Patient-98 intergenic 0.000828 0.000513 0.12 4.53 0.73 ACTC1 98415 Reference T tagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgcc GGCGATAGGCTA CGACGCGGTCTCTCTCTtagactcttatcagtggagaaggtaccacttacatctgcatgacaaacccTacccatttactgtccttttcctggccttctccctataacctgccttgccAGAGGGAGACGGACGTCTCAATAAggcgataggctaAGATCGAGACCCGACGC chr15:34989511-Reference-T;Patient-98 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Reference C tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GCGGTATAGTTA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgcggtatagttaAGATCGAGACCCGACGC chr15:35125558-Reference-C;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Reference C tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CGTCAAGACGTC CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcgtcaagacgtcAGATCGAGACCCGACGC chr15:35125558-Reference-C;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Reference C tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatct ATAGGTTCACCA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAataggttcaccaAGATCGAGACCCGACGC chr15:35125558-Reference-C;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Reference C tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GTCTCTCGTCAA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgtctctcgtcaaAGATCGAGACCCGACGC chr15:35125558-Reference-C;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Variant T tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CGTACACGCTGA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcgtacacgctgaAGATCGAGACCCGACGC chr15:35125558-Variant-T;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative G tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GGTATGGATAGT CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAggtatggatagtAGATCGAGACCCGACGC chr15:35125558-Alternative-G;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Reference C tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GATCCTTACGTT CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggCgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgatccttacgttAGATCGAGACCCGACGC chr15:35125558-Reference-C;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative A tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatct ACGCTATTGTCA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAacgctattgtcaAGATCGAGACCCGACGC chr15:35125558-Alternative-A;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative A tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GCCACGTTACGA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgccacgttacgaAGATCGAGACCCGACGC chr15:35125558-Alternative-A;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative A tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatct AGTAACCACGAA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAagtaaccacgaaAGATCGAGACCCGACGC chr15:35125558-Alternative-A;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative A tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GATGATCGTGCA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgatgatcgtgcaAGATCGAGACCCGACGC chr15:35125558-Alternative-A;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative G tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatct ACCACGGCATTA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAaccacggcattaAGATCGAGACCCGACGC chr15:35125558-Alternative-G;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative G tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CATGCGAACGCA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcatgcgaacgcaAGATCGAGACCCGACGC chr15:35125558-Alternative-G;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative G tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CATGCTTGTAAG CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcatgcttgtaagAGATCGAGACCCGACGC chr15:35125558-Alternative-G;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative A tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatct AACGGTACTAAG CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggAgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAaacggtactaagAGATCGAGACCCGACGC chr15:35125558-Alternative-A;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Variant T tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatct AGCAGCATCGTC CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAagcagcatcgtcAGATCGAGACCCGACGC chr15:35125558-Variant-T;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Variant T tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CATCTAACGAAC CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcatctaacgaacAGATCGAGACCCGACGC chr15:35125558-Variant-T;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Variant T tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatct AACGATGCTCAT CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAaacgatgctcatAGATCGAGACCCGACGC chr15:35125558-Variant-T;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Variant T tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatct CGGTCCGCTTAT CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggTgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAcggtccgcttatAGATCGAGACCCGACGC chr15:35125558-Variant-T;Patient-30 chr15:35125558-CT Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA GJD2 78775 Alternative G tcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatct GCAGTGAACGAA CGACGCGGTCTCTCTCTtcttaatattactgcattgaggattaagtttcaatatatgaatttggtggGgggaacaccaatattctgaccatagtggggtggaaagatttagatatctAGAGGGAGACGGACGTCTCAATAAgcagtgaacgaaAGATCGAGACCCGACGC chr15:35125558-Alternative-G;Patient-30 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative A ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GTAACTAACGTC CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAgtaactaacgtcAGATCGAGACCCGACGC chr15:37476390-Alternative-A;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Reference C ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CGATTCATAGCA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAcgattcatagcaAGATCGAGACCCGACGC chr15:37476390-Reference-C;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Reference C ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GATTCATTCGCT CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAgattcattcgctAGATCGAGACCCGACGC chr15:37476390-Reference-C;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Variant T ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GGAGATAAGTCA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAggagataagtcaAGATCGAGACCCGACGC chr15:37476390-Variant-T;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Variant T ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtata ACACGACGAACG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAacacgacgaacgAGATCGAGACCCGACGC chr15:37476390-Variant-T;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative A ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CACAACTAACCT CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAcacaactaacctAGATCGAGACCCGACGC chr15:37476390-Alternative-A;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative G ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CTGAATTCGTGA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAActgaattcgtgaAGATCGAGACCCGACGC chr15:37476390-Alternative-G;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative G ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GACGCTAGATAA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAgacgctagataaAGATCGAGACCCGACGC chr15:37476390-Alternative-G;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Variant T ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GTGTCTGGTCGA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAgtgtctggtcgaAGATCGAGACCCGACGC chr15:37476390-Variant-T;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative A ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CATTGCGGAAGG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAcattgcggaaggAGATCGAGACCCGACGC chr15:37476390-Alternative-A;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative G ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GCGTGAATCAGG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAgcgtgaatcaggAGATCGAGACCCGACGC chr15:37476390-Alternative-G;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative G ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CATGACCGTTCG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAcatgaccgttcgAGATCGAGACCCGACGC chr15:37476390-Alternative-G;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Reference C ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CTGTGGATACGC CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAActgtggatacgcAGATCGAGACCCGACGC chr15:37476390-Reference-C;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Variant T ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtata ATTGCAGTCGCG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAattgcagtcgcgAGATCGAGACCCGACGC chr15:37476390-Variant-T;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Variant T ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GGATAGCTAGCG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccTtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAggatagctagcgAGATCGAGACCCGACGC chr15:37476390-Variant-T;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative G ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtata GGCGTAACAGAT CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccGtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAggcgtaacagatAGATCGAGACCCGACGC chr15:37476390-Alternative-G;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative A ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtata ACTATATGGTCG CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAactatatggtcgAGATCGAGACCCGACGC chr15:37476390-Alternative-A;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Reference C ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtata AGATGTTACGCT CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAagatgttacgctAGATCGAGACCCGACGC chr15:37476390-Reference-C;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Alternative A ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtata CTTAGGAGCCGT CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccAtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAActtaggagccgtAGATCGAGACCCGACGC chr15:37476390-Alternative-A;Patient-14 chr15:37476390-CT DeNovo Patient-14 intergenic NA 0.000513 0.01 2.72 0.11 MEIS2 82889 Reference C ttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtata ACATCGGACATA CGACGCGGTCTCTCTCTttcattatagccccaaatcagttcaaaaagttgattcagagatttatgccCtattattggggccactaccagtgattgacttcctgtgtctaaaagtataAGAGGGAGACGGACGTCTCAATAAacatcggacataAGATCGAGACCCGACGC chr15:37476390-Reference-C;Patient-14 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative G cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagact ATCGCGCTATAT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAatcgcgctatatAGATCGAGACCCGACGC chr15:39780280-Alternative-G;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Reference A cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagact GTCGACTTCTAT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgtcgacttctatAGATCGAGACCCGACGC chr15:39780280-Reference-A;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative G cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagact GTTAACGATTCG CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgttaacgattcgAGATCGAGACCCGACGC chr15:39780280-Alternative-G;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Reference A cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagact AACACCTACGGC CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAaacacctacggcAGATCGAGACCCGACGC chr15:39780280-Reference-A;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative T cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagact AATCTCGTAGCA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAaatctcgtagcaAGATCGAGACCCGACGC chr15:39780280-Alternative-T;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Reference A cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagact GAGCTGAACATT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgagctgaacattAGATCGAGACCCGACGC chr15:39780280-Reference-A;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative T cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagact ACACGGACTCTA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAacacggactctaAGATCGAGACCCGACGC chr15:39780280-Alternative-T;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Variant C cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagact GCGTCAGACGAT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgcgtcagacgatAGATCGAGACCCGACGC chr15:39780280-Variant-C;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Variant C cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagact AGGACGGCGATT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAaggacggcgattAGATCGAGACCCGACGC chr15:39780280-Variant-C;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Reference A cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagact GTCAACGACGCT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgtcaacgacgctAGATCGAGACCCGACGC chr15:39780280-Reference-A;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative T cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagact ACTCAATGTCGA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAactcaatgtcgaAGATCGAGACCCGACGC chr15:39780280-Alternative-T;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative T cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagact GCAGACGGAGAA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgcagacggagaaAGATCGAGACCCGACGC chr15:39780280-Alternative-T;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative G cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagact CACGAAGCTACC CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAcacgaagctaccAGATCGAGACCCGACGC chr15:39780280-Alternative-G;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Variant C cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagact CACAGATTACAC CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAcacagattacacAGATCGAGACCCGACGC chr15:39780280-Variant-C;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Reference A cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagact CGGAATCGATAA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctAttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAcggaatcgataaAGATCGAGACCCGACGC chr15:39780280-Reference-A;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Variant C cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagact CATAACAAGGAC CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAcataacaaggacAGATCGAGACCCGACGC chr15:39780280-Variant-C;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative G cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagact CTCGCTATATAC CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAActcgctatatacAGATCGAGACCCGACGC chr15:39780280-Alternative-G;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Variant C cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagact ACCACGTATGAA CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctCttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAaccacgtatgaaAGATCGAGACCCGACGC chr15:39780280-Variant-C;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative T cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagact GTAAGTGGCTAT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctTttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgtaagtggctatAGATCGAGACCCGACGC chr15:39780280-Alternative-T;Patient-73 chr15:39780280-AC DeNovo Patient-73 intergenic NA 0.000513 -0.1 1.42 -3.6 THBS1 92999 Alternative G cctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagact GCGTCGTAGCTT CGACGCGGTCTCTCTCTcctgaccatcccaggccaaattaaccagtccttcctctgtgactctgcctGttgcacttattctgattttcccagctcaacagatgacagagccaagactAGAGGGAGACGGACGTCTCAATAAgcgtcgtagcttAGATCGAGACCCGACGC chr15:39780280-Alternative-G;Patient-73 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Variant A gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CGGTATTCCGAC CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcggtattccgacAGATCGAGACCCGACGC chr15:40405660-Variant-A;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Variant A gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CGCTATAGAACG CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcgctatagaacgAGATCGAGACCCGACGC chr15:40405660-Variant-A;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative T gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GCATCGTTGACA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAgcatcgttgacaAGATCGAGACCCGACGC chr15:40405660-Alternative-T;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative T gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CGTTCCTATGTT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcgttcctatgttAGATCGAGACCCGACGC chr15:40405660-Alternative-T;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative T gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca ACGTGAACCTAA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAacgtgaacctaaAGATCGAGACCCGACGC chr15:40405660-Alternative-T;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative T gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GATAACACAGGT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAgataacacaggtAGATCGAGACCCGACGC chr15:40405660-Alternative-T;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative T gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GGAGTTGCTTAT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacTtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAggagttgcttatAGATCGAGACCCGACGC chr15:40405660-Alternative-T;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Reference G gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CTTGATTAAGCG CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAActtgattaagcgAGATCGAGACCCGACGC chr15:40405660-Reference-G;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Variant A gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CTGTTATGGAGT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAActgttatggagtAGATCGAGACCCGACGC chr15:40405660-Variant-A;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Variant A gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GGTTCGGCCAAT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAggttcggccaatAGATCGAGACCCGACGC chr15:40405660-Variant-A;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Variant A gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CAGATGTAGTCT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacAtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcagatgtagtctAGATCGAGACCCGACGC chr15:40405660-Variant-A;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Reference G gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GCATAACAGCGT CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAgcataacagcgtAGATCGAGACCCGACGC chr15:40405660-Reference-G;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Reference G gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca GTAGAACGTACA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAgtagaacgtacaAGATCGAGACCCGACGC chr15:40405660-Reference-G;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Reference G gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CAACGTGACGAG CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcaacgtgacgagAGATCGAGACCCGACGC chr15:40405660-Reference-G;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Reference G gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca AGGTTAAGTTCG CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacGtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAaggttaagttcgAGATCGAGACCCGACGC chr15:40405660-Reference-G;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative C gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CTATCCGAGCTA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAActatccgagctaAGATCGAGACCCGACGC chr15:40405660-Alternative-C;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative C gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CTGTGCTCATCG CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAActgtgctcatcgAGATCGAGACCCGACGC chr15:40405660-Alternative-C;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative C gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CGTGCAGTACCA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcgtgcagtaccaAGATCGAGACCCGACGC chr15:40405660-Alternative-C;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative C gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca AATGTCGGCGTC CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAaatgtcggcgtcAGATCGAGACCCGACGC chr15:40405660-Alternative-C;Patient-30 chr15:40405660-GA Inherited Patient-30 intergenic 0.000829 0.000513 NA NA NA BUB1B 47566 Alternative C gactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctaca CACAGCTCCGAA CGACGCGGTCTCTCTCTgactactcggtaaatatttgttgaatgagtaaatgaatgtatattcacacCtttaaaaagtacaagtagttctgtattaggaagtgggaagaaagctacaAGAGGGAGACGGACGTCTCAATAAcacagctccgaaAGATCGAGACCCGACGC chr15:40405660-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Reference G cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc AGGTTCTACGAT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAaggttctacgatAGATCGAGACCCGACGC chr15:40545149-Reference-G;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Reference G cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CGGTCGTTAACG CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcggtcgttaacgAGATCGAGACCCGACGC chr15:40545149-Reference-G;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Reference G cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc ATAGGCTTGTTC CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAataggcttgttcAGATCGAGACCCGACGC chr15:40545149-Reference-G;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Variant T cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GGTGACTTCAAT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAggtgacttcaatAGATCGAGACCCGACGC chr15:40545149-Variant-T;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Variant T cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CTGCGTTCGGTT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAActgcgttcggttAGATCGAGACCCGACGC chr15:40545149-Variant-T;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Reference G cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GTGATGATCAAG CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAgtgatgatcaagAGATCGAGACCCGACGC chr15:40545149-Reference-G;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Reference G cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GAATGCGTGAAT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccGggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAgaatgcgtgaatAGATCGAGACCCGACGC chr15:40545149-Reference-G;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative C cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CATAACTCATGG CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcataactcatggAGATCGAGACCCGACGC chr15:40545149-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative A cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CAAGAGCAGCTT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcaagagcagcttAGATCGAGACCCGACGC chr15:40545149-Alternative-A;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative C cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GGTATCCGCGAA CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAggtatccgcgaaAGATCGAGACCCGACGC chr15:40545149-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative A cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc ATTGCCGACAAC CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAattgccgacaacAGATCGAGACCCGACGC chr15:40545149-Alternative-A;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative A cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc ATAGTAGCTCGT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAatagtagctcgtAGATCGAGACCCGACGC chr15:40545149-Alternative-A;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative C cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CAGCTTCCGCTA CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcagcttccgctaAGATCGAGACCCGACGC chr15:40545149-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative A cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CATCATCCGAAC CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcatcatccgaacAGATCGAGACCCGACGC chr15:40545149-Alternative-A;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative A cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GTCGCGAACGAT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccAggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAgtcgcgaacgatAGATCGAGACCCGACGC chr15:40545149-Alternative-A;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative C cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CGGATATCGAAT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcggatatcgaatAGATCGAGACCCGACGC chr15:40545149-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Alternative C cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc ATATAGTTGGCG CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccCggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAatatagttggcgAGATCGAGACCCGACGC chr15:40545149-Alternative-C;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Variant T cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CAATTACGTGGT CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAcaattacgtggtAGATCGAGACCCGACGC chr15:40545149-Variant-T;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Variant T cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc GTACGAATACGA CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAAgtacgaatacgaAGATCGAGACCCGACGC chr15:40545149-Variant-T;Patient-30 chr15:40545149-GT Inherited Patient-30 intronic PAK6 NA 0.000148 NA NA NA PAK6 35519 Variant T cgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgccc CTAAGGAGAATC CGACGCGGTCTCTCTCTcgagagggcgcagcagtggggcctgcgagctggggccgggtggccgcgccTggtcggagtgtggctggagaggggccgccccggaagcggtgctgcgcccAGAGGGAGACGGACGTCTCAATAActaaggagaatcAGATCGAGACCCGACGC chr15:40545149-Variant-T;Patient-30 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative A taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GCGTCATCGCTT CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgcgtcatcgcttAGATCGAGACCCGACGC chr15:40592234-Alternative-A;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Variant T taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GTTGTAACCGTC CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgttgtaaccgtcAGATCGAGACCCGACGC chr15:40592234-Variant-T;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Reference C taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GACGGCGTAGAT CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgacggcgtagatAGATCGAGACCCGACGC chr15:40592234-Reference-C;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative A taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga CGAGCGTGGTAA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcgagcgtggtaaAGATCGAGACCCGACGC chr15:40592234-Alternative-A;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Reference C taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga ACTTCGCTATCA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAacttcgctatcaAGATCGAGACCCGACGC chr15:40592234-Reference-C;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative G taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga CTCGTCATCGAC CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAActcgtcatcgacAGATCGAGACCCGACGC chr15:40592234-Alternative-G;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative G taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GCATAAGCCTTA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgcataagccttaAGATCGAGACCCGACGC chr15:40592234-Alternative-G;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Variant T taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga CGCTGTAACGAC CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcgctgtaacgacAGATCGAGACCCGACGC chr15:40592234-Variant-T;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Reference C taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GTACGGACTTAA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgtacggacttaaAGATCGAGACCCGACGC chr15:40592234-Reference-C;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative A taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AAGGTTGACTGA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAaaggttgactgaAGATCGAGACCCGACGC chr15:40592234-Alternative-A;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative G taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga ACCTGGTATTGA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAacctggtattgaAGATCGAGACCCGACGC chr15:40592234-Alternative-G;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Variant T taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga GTAACGTGGTCA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgtaacgtggtcaAGATCGAGACCCGACGC chr15:40592234-Variant-T;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Variant T taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AAGGCTTGATCA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAaaggcttgatcaAGATCGAGACCCGACGC chr15:40592234-Variant-T;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Variant T taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AGTCGACACATT CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtTagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagtcgacacattAGATCGAGACCCGACGC chr15:40592234-Variant-T;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative G taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AGTGACATGTTC CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagtgacatgttcAGATCGAGACCCGACGC chr15:40592234-Alternative-G;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative G taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AGTATAGTCGCT CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtGagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagtatagtcgctAGATCGAGACCCGACGC chr15:40592234-Alternative-G;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Reference C taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga CGGTGGTCAATC CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcggtggtcaatcAGATCGAGACCCGACGC chr15:40592234-Reference-C;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative A taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AGGCCGTCGAAT CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAaggccgtcgaatAGATCGAGACCCGACGC chr15:40592234-Alternative-A;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Alternative A taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga CAGACTAACGCG CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtAagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcagactaacgcgAGATCGAGACCCGACGC chr15:40592234-Alternative-A;Patient-86 chr15:40592234-CT DeNovo Patient-86 intronic PLCB2 0.000159 0.000148471 -0.05 1.95 0.29 PLCB2 7939 Reference C taccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccga AGCCGGATCACA CGACGCGGTCTCTCTCTtaccactcccactaggatggctaaaacaaaaaacagacaatcacaagtgtCagcgggatgtgactaacctaaaaccccacacagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagccggatcacaAGATCGAGACCCGACGC chr15:40592234-Reference-C;Patient-86 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative G cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg ATTGGTGTAGCT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAattggtgtagctAGATCGAGACCCGACGC chr15:41133892-Alternative-G;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative G cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg AGTAAGGTGTAC CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAagtaaggtgtacAGATCGAGACCCGACGC chr15:41133892-Alternative-G;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative G cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CTAAGTAAGCGA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAActaagtaagcgaAGATCGAGACCCGACGC chr15:41133892-Alternative-G;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative G cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg AGTAATCGCGTT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAagtaatcgcgttAGATCGAGACCCGACGC chr15:41133892-Alternative-G;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Reference C cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg ACCATGACCAGG CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAaccatgaccaggAGATCGAGACCCGACGC chr15:41133892-Reference-C;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative G cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CGCATGGTTATT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtGgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcgcatggttattAGATCGAGACCCGACGC chr15:41133892-Alternative-G;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Variant T cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg AGTGTTCTTCCA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAagtgttcttccaAGATCGAGACCCGACGC chr15:41133892-Variant-T;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative A cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg ACTAGATGGCTA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAactagatggctaAGATCGAGACCCGACGC chr15:41133892-Alternative-A;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative A cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg GACCGAAGATAC CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAgaccgaagatacAGATCGAGACCCGACGC chr15:41133892-Alternative-A;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Reference C cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg ACGGTGAGTCGA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAacggtgagtcgaAGATCGAGACCCGACGC chr15:41133892-Reference-C;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Reference C cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CGATTGTCGTCG CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcgattgtcgtcgAGATCGAGACCCGACGC chr15:41133892-Reference-C;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative A cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg GGTTGACTATCA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAggttgactatcaAGATCGAGACCCGACGC chr15:41133892-Alternative-A;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Variant T cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg GTAATAGTGCGA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAgtaatagtgcgaAGATCGAGACCCGACGC chr15:41133892-Variant-T;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Reference C cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg AGGCCAAGTTCG CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAaggccaagttcgAGATCGAGACCCGACGC chr15:41133892-Reference-C;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Variant T cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg ACCTAAGGATGT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAacctaaggatgtAGATCGAGACCCGACGC chr15:41133892-Variant-T;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Reference C cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CGCCTCCGAATT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtCgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcgcctccgaattAGATCGAGACCCGACGC chr15:41133892-Reference-C;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative A cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg GGACGTTCATGC CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAggacgttcatgcAGATCGAGACCCGACGC chr15:41133892-Alternative-A;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Variant T cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CAGGAGATCATT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcaggagatcattAGATCGAGACCCGACGC chr15:41133892-Variant-T;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Alternative A cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CACGGACTGGTT CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtAgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcacggactggttAGATCGAGACCCGACGC chr15:41133892-Alternative-A;Patient-68 chr15:41133892-CT Inherited Patient-68 intergenic 0.000127 0.00154 0.43 8.67 -0.24 ZFYVE19 34617 Variant T cttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctg CGCGGTAGATCA CGACGCGGTCTCTCTCTcttttctctgcatcctcaccaccatgtgtttttgttgttgttgttgttgtTgtttcaagtaacatttattgagaactctttgtgtcaaatgctttgtctgAGAGGGAGACGGACGTCTCAATAAcgcggtagatcaAGATCGAGACCCGACGC chr15:41133892-Variant-T;Patient-68 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative C ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CTTAGTGACCGG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAActtagtgaccggAGATCGAGACCCGACGC chr15:41178949-Alternative-C;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative C ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt AACCAAGCGGTT CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAaaccaagcggttAGATCGAGACCCGACGC chr15:41178949-Alternative-C;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative C ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CGCGTGAATCGT CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAcgcgtgaatcgtAGATCGAGACCCGACGC chr15:41178949-Alternative-C;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Variant A ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GACCTTAGACGC CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgaccttagacgcAGATCGAGACCCGACGC chr15:41178949-Variant-A;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Variant A ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GTATTACGTACG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgtattacgtacgAGATCGAGACCCGACGC chr15:41178949-Variant-A;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Variant A ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CGCGGCTATTGA CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAcgcggctattgaAGATCGAGACCCGACGC chr15:41178949-Variant-A;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Reference G ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CAGGACAGCACA CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAcaggacagcacaAGATCGAGACCCGACGC chr15:41178949-Reference-G;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Reference G ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CTCGTATCGCGA CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAActcgtatcgcgaAGATCGAGACCCGACGC chr15:41178949-Reference-G;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative C ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt AACAGCTGTTGT CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAaacagctgttgtAGATCGAGACCCGACGC chr15:41178949-Alternative-C;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative T ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt ATAGATGTTCGG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAatagatgttcggAGATCGAGACCCGACGC chr15:41178949-Alternative-T;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative T ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GTGACTAGTCGC CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgtgactagtcgcAGATCGAGACCCGACGC chr15:41178949-Alternative-T;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative T ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GCCGGTAACAAC CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgccggtaacaacAGATCGAGACCCGACGC chr15:41178949-Alternative-T;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative T ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GATTACCATCGG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgattaccatcggAGATCGAGACCCGACGC chr15:41178949-Alternative-T;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative C ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt CTATATTACGCG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaCcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAActatattacgcgAGATCGAGACCCGACGC chr15:41178949-Alternative-C;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Variant A ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt AACCACGCCAAG CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAaaccacgccaagAGATCGAGACCCGACGC chr15:41178949-Variant-A;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Reference G ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt AGAGTGCCGTGA CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAagagtgccgtgaAGATCGAGACCCGACGC chr15:41178949-Reference-G;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Reference G ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GTGTTATCAGGT CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgtgttatcaggtAGATCGAGACCCGACGC chr15:41178949-Reference-G;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Reference G ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GGAAGTTCTGAA CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaGcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAggaagttctgaaAGATCGAGACCCGACGC chr15:41178949-Reference-G;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Alternative T ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt AATGAGTCGAAC CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaTcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAaatgagtcgaacAGATCGAGACCCGACGC chr15:41178949-Alternative-T;Patient-78 chr15:41178949-GA DeNovo Patient-78 intergenic NA 0.000512821 -0.03 2.21 -4.76 VPS18 7678 Variant A ggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcatt GCATGGTACAAT CGACGCGGTCTCTCTCTggcctggtcctggcaaggggaggagtatcagggaagccattctagagggaAcaaatcctcaacaccagacactctaatgtccaaatgggtgtggtgcattAGAGGGAGACGGACGTCTCAATAAgcatggtacaatAGATCGAGACCCGACGC chr15:41178949-Variant-A;Patient-78 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Reference G gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GCCAAGAATAAC CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgccaagaataacAGATCGAGACCCGACGC chr15:41234269-Reference-G;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Reference G gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggc AATAGCACCAAG CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAaatagcaccaagAGATCGAGACCCGACGC chr15:41234269-Reference-G;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Reference G gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GCGGACGTAGAA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgcggacgtagaaAGATCGAGACCCGACGC chr15:41234269-Reference-G;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative C gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggc ACCACAACCGTC CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAaccacaaccgtcAGATCGAGACCCGACGC chr15:41234269-Alternative-C;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative C gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggc AGTACGACGCGT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAagtacgacgcgtAGATCGAGACCCGACGC chr15:41234269-Alternative-C;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative C gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GACCGGACCATA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgaccggaccataAGATCGAGACCCGACGC chr15:41234269-Alternative-C;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative A gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggc ACGATTGCGTAA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAacgattgcgtaaAGATCGAGACCCGACGC chr15:41234269-Alternative-A;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative A gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GGAATAATCACG CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAggaataatcacgAGATCGAGACCCGACGC chr15:41234269-Alternative-A;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative A gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GTTCTACGACTT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgttctacgacttAGATCGAGACCCGACGC chr15:41234269-Alternative-A;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative C gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggc AAGATAGCGCAT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAaagatagcgcatAGATCGAGACCCGACGC chr15:41234269-Alternative-C;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative A gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggc ATCCGTCAGACA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAatccgtcagacaAGATCGAGACCCGACGC chr15:41234269-Alternative-A;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Variant T gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggc CACGACGTGCTA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAcacgacgtgctaAGATCGAGACCCGACGC chr15:41234269-Variant-T;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Reference G gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GGTCAACACCGT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAggtcaacaccgtAGATCGAGACCCGACGC chr15:41234269-Reference-G;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative A gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GGCGTAACATTA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggAccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAggcgtaacattaAGATCGAGACCCGACGC chr15:41234269-Alternative-A;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Variant T gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggc AATCAACCACGT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAaatcaaccacgtAGATCGAGACCCGACGC chr15:41234269-Variant-T;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Variant T gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GGCGTATCCATA CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAggcgtatccataAGATCGAGACCCGACGC chr15:41234269-Variant-T;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Alternative C gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggc CACAATATTCGC CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggCccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAcacaatattcgcAGATCGAGACCCGACGC chr15:41234269-Alternative-C;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Reference G gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GATTAGCTAACC CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggGccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgattagctaaccAGATCGAGACCCGACGC chr15:41234269-Reference-G;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Variant T gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggc AGGTTCTGGTAT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAaggttctggtatAGATCGAGACCCGACGC chr15:41234269-Variant-T;Patient-104 chr15:41234269-GT DeNovo Patient-104 intergenic 0.000198 0.001421801 0.51 9.47 1.38 DLL4 12737 Variant T gcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggc GAATCGTACACT CGACGCGGTCTCTCTCTgcccggcactagagggcgctgcgcggccgtcggggctgcgcgcgggagggTccgccgaccccgggaggctctctggggccgccctttctccgttcggggcAGAGGGAGACGGACGTCTCAATAAgaatcgtacactAGATCGAGACCCGACGC chr15:41234269-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative A gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc AACTATTCCGCT CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAaactattccgctAGATCGAGACCCGACGC chr15:43402282-Alternative-A;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative A gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc CAACAGCGGCTA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAcaacagcggctaAGATCGAGACCCGACGC chr15:43402282-Alternative-A;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Reference G gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGTGTAACGTGG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggtgtaacgtggAGATCGAGACCCGACGC chr15:43402282-Reference-G;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative C gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GACAAGCCGCTA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAgacaagccgctaAGATCGAGACCCGACGC chr15:43402282-Alternative-C;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Variant T gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc ACGTAAGGTGCG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAacgtaaggtgcgAGATCGAGACCCGACGC chr15:43402282-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Variant T gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GCGTATGCAGCT CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAgcgtatgcagctAGATCGAGACCCGACGC chr15:43402282-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Variant T gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGCTATCCGCTA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggctatccgctaAGATCGAGACCCGACGC chr15:43402282-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative C gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGAGGTTGATTA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggaggttgattaAGATCGAGACCCGACGC chr15:43402282-Alternative-C;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative C gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGTTCTATTAGG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggttctattaggAGATCGAGACCCGACGC chr15:43402282-Alternative-C;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative A gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc CGCTATGACTTA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAcgctatgacttaAGATCGAGACCCGACGC chr15:43402282-Alternative-A;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative A gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc ATAGGACTTCCA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAataggacttccaAGATCGAGACCCGACGC chr15:43402282-Alternative-A;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Reference G gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGAGATAATGAG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggagataatgagAGATCGAGACCCGACGC chr15:43402282-Reference-G;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Variant T gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GCCAATACAACG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAgccaatacaacgAGATCGAGACCCGACGC chr15:43402282-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative A gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc AACTACGCACCG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggAtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAaactacgcaccgAGATCGAGACCCGACGC chr15:43402282-Alternative-A;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Reference G gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc AGATCCGTCAAT CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAagatccgtcaatAGATCGAGACCCGACGC chr15:43402282-Reference-G;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative C gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc CACGTGACGGTT CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAcacgtgacggttAGATCGAGACCCGACGC chr15:43402282-Alternative-C;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Variant T gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc AATGCGAACTTC CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggTtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAaatgcgaacttcAGATCGAGACCCGACGC chr15:43402282-Variant-T;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Reference G gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc AACGTTGGCGAG CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAaacgttggcgagAGATCGAGACCCGACGC chr15:43402282-Reference-G;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Alternative C gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc GGTCGTTACGCA CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggCtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAggtcgttacgcaAGATCGAGACCCGACGC chr15:43402282-Alternative-C;Patient-104 chr15:43402282-GT DeNovo Patient-104 intergenic 0.000128 0.001895735 -0.16 0.96 -0.26 UBR1 3995 Reference G gcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatc ACTCGTTCAACC CGACGCGGTCTCTCTCTgcatgcaccaccatgcctggctaatttttgtatttttttgtagagacaggGtttctccatgttgcccaagctgatctcgaactcttgggctcaagtgatcAGAGGGAGACGGACGTCTCAATAAactcgttcaaccAGATCGAGACCCGACGC chr15:43402282-Reference-G;Patient-104 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative T tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt AGGTAGTAACCA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAaggtagtaaccaAGATCGAGACCCGACGC chr15:44927686-Alternative-T;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative T tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CGAGGACTCACA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAcgaggactcacaAGATCGAGACCCGACGC chr15:44927686-Alternative-T;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative A tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CAGGTGTCTATA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAcaggtgtctataAGATCGAGACCCGACGC chr15:44927686-Alternative-A;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative A tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GGACTCATCGGT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAggactcatcggtAGATCGAGACCCGACGC chr15:44927686-Alternative-A;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative T tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt AGGTAGACGAGT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAaggtagacgagtAGATCGAGACCCGACGC chr15:44927686-Alternative-T;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative T tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CGATGGCGATCA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAcgatggcgatcaAGATCGAGACCCGACGC chr15:44927686-Alternative-T;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative T tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt ACTTGGACCATA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtTctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAacttggaccataAGATCGAGACCCGACGC chr15:44927686-Alternative-T;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Variant G tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt AGCGGTTGATAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAagcggttgataaAGATCGAGACCCGACGC chr15:44927686-Variant-G;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Variant G tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt ACTAGTCTCGAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAactagtctcgaaAGATCGAGACCCGACGC chr15:44927686-Variant-G;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Variant G tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CACACGTTGGAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAcacacgttggaaAGATCGAGACCCGACGC chr15:44927686-Variant-G;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Reference C tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CGTTCGGCTGAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAcgttcggctgaaAGATCGAGACCCGACGC chr15:44927686-Reference-C;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Reference C tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GCATTCAGCTAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAgcattcagctaaAGATCGAGACCCGACGC chr15:44927686-Reference-C;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Reference C tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GGTGTATCTCAA CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAggtgtatctcaaAGATCGAGACCCGACGC chr15:44927686-Reference-C;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Reference C tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GTCGACAGTACC CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAgtcgacagtaccAGATCGAGACCCGACGC chr15:44927686-Reference-C;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative A tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt ACCAACTATGCT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAaccaactatgctAGATCGAGACCCGACGC chr15:44927686-Alternative-A;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative A tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GAGCAGTCGGAT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAgagcagtcggatAGATCGAGACCCGACGC chr15:44927686-Alternative-A;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Variant G tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt CTATTCGACCGT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAActattcgaccgtAGATCGAGACCCGACGC chr15:44927686-Variant-G;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Variant G tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt AACGAACGAATC CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtGctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAaacgaacgaatcAGATCGAGACCCGACGC chr15:44927686-Variant-G;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Alternative A tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt AATAGGTACGGT CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtActaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAaataggtacggtAGATCGAGACCCGACGC chr15:44927686-Alternative-A;Patient-55 chr15:44927686-CG DeNovo Patient-55 intronic SPG11 NA 4.95e-05 0.41 8.54 0.13 SPG11 28189 Reference C tactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagt GACGGAGATAAC CGACGCGGTCTCTCTCTtactaaaaaaaattaaaaagtagctgggtgtggtggcgcacacctgtagtCctaactactggggatgctgaggcaggagggtgtcttgagcccaagaagtAGAGGGAGACGGACGTCTCAATAAgacggagataacAGATCGAGACCCGACGC chr15:44927686-Reference-C;Patient-55 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Variant T attatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CTAATAAGCGAG CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAActaataagcgagAGATCGAGACCCGACGC chr15:45314075-Variant-T;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative A attatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga ACGGCGGATCTT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAacggcggatcttAGATCGAGACCCGACGC chr15:45314075-Alternative-A;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative A attatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CGCACGGTATAT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAcgcacggtatatAGATCGAGACCCGACGC chr15:45314075-Alternative-A;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative A attatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga ACGACTTCCTAA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAacgacttcctaaAGATCGAGACCCGACGC chr15:45314075-Alternative-A;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative A attatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CGTTGGTTACTA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAcgttggttactaAGATCGAGACCCGACGC chr15:45314075-Alternative-A;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative A attatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga AGGTAACTCACG CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagAgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAaggtaactcacgAGATCGAGACCCGACGC chr15:45314075-Alternative-A;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Variant T attatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga AGGTAGACTAAC CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAaggtagactaacAGATCGAGACCCGACGC chr15:45314075-Variant-T;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Variant T attatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CATCGTTCACCG CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAcatcgttcaccgAGATCGAGACCCGACGC chr15:45314075-Variant-T;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Variant T attatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CTCTTCGACGAC CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAActcttcgacgacAGATCGAGACCCGACGC chr15:45314075-Variant-T;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Variant T attatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga AAGCAACCGAGT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagTgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAaagcaaccgagtAGATCGAGACCCGACGC chr15:45314075-Variant-T;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative G attatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CTGCTATTAGTC CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAActgctattagtcAGATCGAGACCCGACGC chr15:45314075-Alternative-G;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative G attatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga AGCAGGCGAGAT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAagcaggcgagatAGATCGAGACCCGACGC chr15:45314075-Alternative-G;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative G attatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga GAAGTTGGTCAA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAgaagttggtcaaAGATCGAGACCCGACGC chr15:45314075-Alternative-G;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative G attatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CGAGAATCGGCA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAcgagaatcggcaAGATCGAGACCCGACGC chr15:45314075-Alternative-G;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Alternative G attatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CTGGCACACGAT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagGgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAActggcacacgatAGATCGAGACCCGACGC chr15:45314075-Alternative-G;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Reference C attatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga GTCATCGGCTGA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAgtcatcggctgaAGATCGAGACCCGACGC chr15:45314075-Reference-C;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Reference C attatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga AACTCCGGACGA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAaactccggacgaAGATCGAGACCCGACGC chr15:45314075-Reference-C;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Reference C attatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga CATCACGGCCTT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAcatcacggccttAGATCGAGACCCGACGC chr15:45314075-Reference-C;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Reference C attatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga GTCGCGATTCGA CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAgtcgcgattcgaAGATCGAGACCCGACGC chr15:45314075-Reference-C;Patient-30 chr15:45314075-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA DUOX2 92283 Reference C attatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgaga GAATGTCGTGTT CGACGCGGTCTCTCTCTattatcctcaaaggagggaggggccttatagacttaggcctatctagaagCgcctctctcctcagagagtaaaacctcactgtttctcagagggctgagaAGAGGGAGACGGACGTCTCAATAAgaatgtcgtgttAGATCGAGACCCGACGC chr15:45314075-Reference-C;Patient-30 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Reference C cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CAAGTACGACGC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAcaagtacgacgcAGATCGAGACCCGACGC chr15:46014788-Reference-C;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative A cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc AGCGTAGATCAT CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAagcgtagatcatAGATCGAGACCCGACGC chr15:46014788-Alternative-A;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Reference C cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc ATTAACGGCCTT CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAattaacggccttAGATCGAGACCCGACGC chr15:46014788-Reference-C;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative G cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc ATAAGCGTGACA CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAataagcgtgacaAGATCGAGACCCGACGC chr15:46014788-Alternative-G;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Reference C cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc GTACCACTCGTC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAgtaccactcgtcAGATCGAGACCCGACGC chr15:46014788-Reference-C;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Variant T cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc ATAGAGCTACGG CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAatagagctacggAGATCGAGACCCGACGC chr15:46014788-Variant-T;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative G cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc AGAGGTGGAGCA CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAagaggtggagcaAGATCGAGACCCGACGC chr15:46014788-Alternative-G;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Reference C cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc GATCGTTACGCG CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAgatcgttacgcgAGATCGAGACCCGACGC chr15:46014788-Reference-C;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Reference C cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CGAAGTGATCGC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccCggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAcgaagtgatcgcAGATCGAGACCCGACGC chr15:46014788-Reference-C;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative A cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc GGCTTACTCCGT CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAggcttactccgtAGATCGAGACCCGACGC chr15:46014788-Alternative-A;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Variant T cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc GGAGGTAGTAGG CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAggaggtagtaggAGATCGAGACCCGACGC chr15:46014788-Variant-T;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Variant T cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CTCGGTCATACG CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAActcggtcatacgAGATCGAGACCCGACGC chr15:46014788-Variant-T;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative A cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc GTGCTCCATTAT CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAgtgctccattatAGATCGAGACCCGACGC chr15:46014788-Alternative-A;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative A cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc AAGTTCGACGCG CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAaagttcgacgcgAGATCGAGACCCGACGC chr15:46014788-Alternative-A;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative A cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CACGACGGCTAA CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccAggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAcacgacggctaaAGATCGAGACCCGACGC chr15:46014788-Alternative-A;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Variant T cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CTAGAAGTGTTC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAActagaagtgttcAGATCGAGACCCGACGC chr15:46014788-Variant-T;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Variant T cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc CGAGTCGTCGAT CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccTggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAcgagtcgtcgatAGATCGAGACCCGACGC chr15:46014788-Variant-T;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative G cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc AAGGAAGTACGA CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAaaggaagtacgaAGATCGAGACCCGACGC chr15:46014788-Alternative-G;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative G cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc AAGTCGACATTC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAaagtcgacattcAGATCGAGACCCGACGC chr15:46014788-Alternative-G;Patient-104 chr15:46014788-CT DeNovo Patient-104 intergenic 0.000734 0.002369668 -0.3 0.35 -0.47 SQOR 91441 Alternative G cctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagc ATCGCGTTGTGC CGACGCGGTCTCTCTCTcctgtaatcccagctactcaggaggctgaggcaggaggatcgcttgaaccGggggggcagaggttgcggtgagccgagatcatgccatttgcactccagcAGAGGGAGACGGACGTCTCAATAAatcgcgttgtgcAGATCGAGACCCGACGC chr15:46014788-Alternative-G;Patient-104 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Reference C ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg AACAACGAGCAT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAaacaacgagcatAGATCGAGACCCGACGC chr15:49005362-Reference-C;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative A ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GCGTTCCAACAC CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAgcgttccaacacAGATCGAGACCCGACGC chr15:49005362-Alternative-A;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative A ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CGTAATGCTAAC CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcgtaatgctaacAGATCGAGACCCGACGC chr15:49005362-Alternative-A;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Reference C ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CACTTACCACCG CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcacttaccaccgAGATCGAGACCCGACGC chr15:49005362-Reference-C;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative A ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg AGACGCACGATT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAagacgcacgattAGATCGAGACCCGACGC chr15:49005362-Alternative-A;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative A ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg ATAGGTGTTCAC CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAataggtgttcacAGATCGAGACCCGACGC chr15:49005362-Alternative-A;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Variant T ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GTCGCACTGAAC CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAgtcgcactgaacAGATCGAGACCCGACGC chr15:49005362-Variant-T;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative G ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CAATAGGAGGAC CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcaataggaggacAGATCGAGACCCGACGC chr15:49005362-Alternative-G;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Reference C ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg AGCAGGTTAACA CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAagcaggttaacaAGATCGAGACCCGACGC chr15:49005362-Reference-C;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative A ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GGATGAAGTGTT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaAgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAggatgaagtgttAGATCGAGACCCGACGC chr15:49005362-Alternative-A;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative G ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GTGAATTAGTGG CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAgtgaattagtggAGATCGAGACCCGACGC chr15:49005362-Alternative-G;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative G ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CGCATCAACCTT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcgcatcaaccttAGATCGAGACCCGACGC chr15:49005362-Alternative-G;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative G ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GTGTAAGCGCGT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAgtgtaagcgcgtAGATCGAGACCCGACGC chr15:49005362-Alternative-G;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Reference C ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GGTAACAGATCA CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAggtaacagatcaAGATCGAGACCCGACGC chr15:49005362-Reference-C;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Reference C ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg AACCGGCTATAA CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaCgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAaaccggctataaAGATCGAGACCCGACGC chr15:49005362-Reference-C;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Variant T ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg GTTAGGACCACG CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAgttaggaccacgAGATCGAGACCCGACGC chr15:49005362-Variant-T;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Variant T ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg ACCGTTCGACGA CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAaccgttcgacgaAGATCGAGACCCGACGC chr15:49005362-Variant-T;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Alternative G ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CAGCGAGCGATA CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaGgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcagcgagcgataAGATCGAGACCCGACGC chr15:49005362-Alternative-G;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Variant T ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg CGGTACCGTAGT CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAcggtaccgtagtAGATCGAGACCCGACGC chr15:49005362-Variant-T;Patient-23 chr15:49005362-CT DeNovo Patient-23 intergenic NA 0.000513 0.04 3.34 -0.53 FBN1 67315 Variant T ccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctgg AGGTTCGGTTCG CGACGCGGTCTCTCTCTccatgttgcccaggttggtcgggaactcctgggctcaagtgatttgcccaTgttagcctcccaaagtgctgggattacaggtgtgagctattgtacctggAGAGGGAGACGGACGTCTCAATAAaggttcggttcgAGATCGAGACCCGACGC chr15:49005362-Variant-T;Patient-23 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative C caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga ACGTGGACGTGA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAacgtggacgtgaAGATCGAGACCCGACGC chr15:49020952-Alternative-C;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative C caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga CGGATGGTTGAC CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAcggatggttgacAGATCGAGACCCGACGC chr15:49020952-Alternative-C;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative T caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga ATCTGTGTTGTC CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAatctgtgttgtcAGATCGAGACCCGACGC chr15:49020952-Alternative-T;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Variant A caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GGACGTTAATGT CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAggacgttaatgtAGATCGAGACCCGACGC chr15:49020952-Variant-A;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Variant A caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga ACAACGCAAGAA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAacaacgcaagaaAGATCGAGACCCGACGC chr15:49020952-Variant-A;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative T caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga CGGACAAGATTA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAcggacaagattaAGATCGAGACCCGACGC chr15:49020952-Alternative-T;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative C caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga CTCTAAGCGACG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAActctaagcgacgAGATCGAGACCCGACGC chr15:49020952-Alternative-C;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative T caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga AAGACGCTAACA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAaagacgctaacaAGATCGAGACCCGACGC chr15:49020952-Alternative-T;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative T caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga ACTTGTACCTAC CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAacttgtacctacAGATCGAGACCCGACGC chr15:49020952-Alternative-T;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative T caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GTAACGTATGCT CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacTaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAgtaacgtatgctAGATCGAGACCCGACGC chr15:49020952-Alternative-T;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative C caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GTGATCGTTCGG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAgtgatcgttcggAGATCGAGACCCGACGC chr15:49020952-Alternative-C;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Reference G caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga CACAGCATCGGT CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAcacagcatcggtAGATCGAGACCCGACGC chr15:49020952-Reference-G;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Variant A caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GTAGGATGTGCG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAgtaggatgtgcgAGATCGAGACCCGACGC chr15:49020952-Variant-A;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Variant A caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga AGGTACACGTGG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAaggtacacgtggAGATCGAGACCCGACGC chr15:49020952-Variant-A;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Alternative C caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GCGGACGTATGA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacCaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAgcggacgtatgaAGATCGAGACCCGACGC chr15:49020952-Alternative-C;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Reference G caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga AATGTGGCGCCA CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAaatgtggcgccaAGATCGAGACCCGACGC chr15:49020952-Reference-G;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Reference G caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga GCCACTAAGTAT CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAgccactaagtatAGATCGAGACCCGACGC chr15:49020952-Reference-G;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Variant A caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga CACGTTGTGCAG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacAaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAcacgttgtgcagAGATCGAGACCCGACGC chr15:49020952-Variant-A;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Reference G caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga AGAGTCTAGCGG CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAagagtctagcggAGATCGAGACCCGACGC chr15:49020952-Reference-G;Patient-17 chr15:49020952-GA Inherited Patient-17 intergenic 9.6e-05 0.001025641 0.06 3.63 -0.3 FBN1 82905 Reference G caaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaagga ACTAGGTTAACC CGACGCGGTCTCTCTCTcaaagtagcacagaaaaataaaagtatacaaaagaacaatgaagagaaacGaggatggggctatgtctaagagaagttccagaagcaggaaacagaaggaAGAGGGAGACGGACGTCTCAATAAactaggttaaccAGATCGAGACCCGACGC chr15:49020952-Reference-G;Patient-17 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative A actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GCGAGATAGCGT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgcgagatagcgtAGATCGAGACCCGACGC chr15:49083037-Alternative-A;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative A actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GATACGGACCTA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgatacggacctaAGATCGAGACCCGACGC chr15:49083037-Alternative-A;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative A actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg AGTTCCAATCGA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAagttccaatcgaAGATCGAGACCCGACGC chr15:49083037-Alternative-A;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Reference T actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CGCGTAGCAAGT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAcgcgtagcaagtAGATCGAGACCCGACGC chr15:49083037-Reference-T;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative G actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg AGCTCTCACATA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAagctctcacataAGATCGAGACCCGACGC chr15:49083037-Alternative-G;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative A actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CGGAATAACGAT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAcggaataacgatAGATCGAGACCCGACGC chr15:49083037-Alternative-A;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative G actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg AGACGCGAACAT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAagacgcgaacatAGATCGAGACCCGACGC chr15:49083037-Alternative-G;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative G actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg AATGAGCTAGCA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAaatgagctagcaAGATCGAGACCCGACGC chr15:49083037-Alternative-G;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Reference T actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg ACCGTAACGGAG CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAaccgtaacggagAGATCGAGACCCGACGC chr15:49083037-Reference-T;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Reference T actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg ATCCGTCATCAA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAatccgtcatcaaAGATCGAGACCCGACGC chr15:49083037-Reference-T;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative G actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg ACGTAATAGACG CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAacgtaatagacgAGATCGAGACCCGACGC chr15:49083037-Alternative-G;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative A actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CGCTATATAGTC CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaAtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAcgctatatagtcAGATCGAGACCCGACGC chr15:49083037-Alternative-A;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Variant C actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg AGGACGAACAGT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAaggacgaacagtAGATCGAGACCCGACGC chr15:49083037-Variant-C;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Reference T actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CTAGATGCGGAC CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAActagatgcggacAGATCGAGACCCGACGC chr15:49083037-Reference-T;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Variant C actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GTGGCGCGATAT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgtggcgcgatatAGATCGAGACCCGACGC chr15:49083037-Variant-C;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Alternative G actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GCAGCAATGTGG CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaGtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgcagcaatgtggAGATCGAGACCCGACGC chr15:49083037-Alternative-G;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Reference T actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GTACGGCGTCAT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaTtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgtacggcgtcatAGATCGAGACCCGACGC chr15:49083037-Reference-T;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Variant C actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CTGGTCATCACG CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAActggtcatcacgAGATCGAGACCCGACGC chr15:49083037-Variant-C;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Variant C actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg CAACAACCGAAT CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAcaacaaccgaatAGATCGAGACCCGACGC chr15:49083037-Variant-C;Patient-52 chr15:49083037-TC DeNovo Patient-52 intronic CEP152 NA 4.95e-05 -0.01 2.48 0.36 CEP152 20305 Variant C actcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctg GCCTTCTAATGA CGACGCGGTCTCTCTCTactcctgacctcaggtgattcgaccgcctcggcttcccaaagtgctgggaCtacaggcgtgagccactgcatccggccatcactttcatttttaaccctgAGAGGGAGACGGACGTCTCAATAAgccttctaatgaAGATCGAGACCCGACGC chr15:49083037-Variant-C;Patient-52 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative G tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa ATCACGCGTCAC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAatcacgcgtcacAGATCGAGACCCGACGC chr15:50892399-Alternative-G;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative G tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa AGAGCCTAACCG CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAagagcctaaccgAGATCGAGACCCGACGC chr15:50892399-Alternative-G;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative G tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CGGTATACCATT CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcggtataccattAGATCGAGACCCGACGC chr15:50892399-Alternative-G;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative G tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa ACTCCACGCGAT CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAactccacgcgatAGATCGAGACCCGACGC chr15:50892399-Alternative-G;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Variant T tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CGTCCGTGTATC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgtccgtgtatcAGATCGAGACCCGACGC chr15:50892399-Variant-T;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Variant T tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CGTGCGCTGTAA CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgtgcgctgtaaAGATCGAGACCCGACGC chr15:50892399-Variant-T;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Variant T tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GCGGTCATCAAG CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcggtcatcaagAGATCGAGACCCGACGC chr15:50892399-Variant-T;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative G tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CGCATCGACCAT CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcGgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgcatcgaccatAGATCGAGACCCGACGC chr15:50892399-Alternative-G;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Reference C tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa AATCGCGAGTCG CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAaatcgcgagtcgAGATCGAGACCCGACGC chr15:50892399-Reference-C;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Reference C tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CTGAATGGACGG CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAActgaatggacggAGATCGAGACCCGACGC chr15:50892399-Reference-C;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Variant T tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GCGTAGCTATTA CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcgtagctattaAGATCGAGACCCGACGC chr15:50892399-Variant-T;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Variant T tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GCGTCTGTTGCA CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcTgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcgtctgttgcaAGATCGAGACCCGACGC chr15:50892399-Variant-T;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative A tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GTCATAACGTGT CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAgtcataacgtgtAGATCGAGACCCGACGC chr15:50892399-Alternative-A;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Reference C tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CGATCGTCGTTC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgatcgtcgttcAGATCGAGACCCGACGC chr15:50892399-Reference-C;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Reference C tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa AGTGTATTGTGC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAagtgtattgtgcAGATCGAGACCCGACGC chr15:50892399-Reference-C;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Reference C tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa CAACTGGCGAGA CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcCgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAcaactggcgagaAGATCGAGACCCGACGC chr15:50892399-Reference-C;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative A tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa AATAGTGGACAC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAaatagtggacacAGATCGAGACCCGACGC chr15:50892399-Alternative-A;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative A tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GCAATCGTACGC CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcaatcgtacgcAGATCGAGACCCGACGC chr15:50892399-Alternative-A;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative A tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa AGCGTACAAGCG CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAagcgtacaagcgAGATCGAGACCCGACGC chr15:50892399-Alternative-A;Patient-100 chr15:50892399-CT DeNovo Patient-100 intronic TRPM7 0.000159 3.91e-05 -0.29 0.4 -0.45 TRPM7 86612 Alternative A tacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaa GGACAGCCAAGT CGACGCGGTCTCTCTCTtacgaccaggaacagtgactcaagcctgtaatcccagcacttcgggaggcAgaggcaggtggatcacttgaggtcaggagttcgagactagcctggccaaAGAGGGAGACGGACGTCTCAATAAggacagccaagtAGATCGAGACCCGACGC chr15:50892399-Alternative-A;Patient-100 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Variant C tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ACCGTCCGAATA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaccgtccgaataAGATCGAGACCCGACGC chr15:51875584-Variant-C;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Variant C tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CAAGATCCGCTA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAcaagatccgctaAGATCGAGACCCGACGC chr15:51875584-Variant-C;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Variant C tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CAACTCCTAAGA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAcaactcctaagaAGATCGAGACCCGACGC chr15:51875584-Variant-C;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Variant C tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt AATAGTTGCGTC CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaatagttgcgtcAGATCGAGACCCGACGC chr15:51875584-Variant-C;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative G tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ACATGACGGTCA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAacatgacggtcaAGATCGAGACCCGACGC chr15:51875584-Alternative-G;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative G tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CGCCGTATTCCT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAcgccgtattcctAGATCGAGACCCGACGC chr15:51875584-Alternative-G;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Reference T tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CGCGTCTAGCTT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAcgcgtctagcttAGATCGAGACCCGACGC chr15:51875584-Reference-T;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Reference T tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CGACGTATGCCT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAcgacgtatgcctAGATCGAGACCCGACGC chr15:51875584-Reference-T;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Reference T tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt AATCGTTCGGAA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaatcgttcggaaAGATCGAGACCCGACGC chr15:51875584-Reference-T;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative A tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt GGTCATGATGTT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAggtcatgatgttAGATCGAGACCCGACGC chr15:51875584-Alternative-A;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Reference T tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ACTCTGAGTATC CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAactctgagtatcAGATCGAGACCCGACGC chr15:51875584-Reference-T;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Variant C tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ACAACCGCAGGT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttCgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAacaaccgcaggtAGATCGAGACCCGACGC chr15:51875584-Variant-C;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative G tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ACCTCATACGAA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAacctcatacgaaAGATCGAGACCCGACGC chr15:51875584-Alternative-G;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative A tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ATTGCTTGGTCA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAattgcttggtcaAGATCGAGACCCGACGC chr15:51875584-Alternative-A;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Reference T tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt ATAGCGTCATCA CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttTgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAatagcgtcatcaAGATCGAGACCCGACGC chr15:51875584-Reference-T;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative A tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt AAGTTAAGGCGT CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaagttaaggcgtAGATCGAGACCCGACGC chr15:51875584-Alternative-A;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative G tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt AAGGCGTCTACG CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaaggcgtctacgAGATCGAGACCCGACGC chr15:51875584-Alternative-G;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative A tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt CTAGATGGTCGG CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAActagatggtcggAGATCGAGACCCGACGC chr15:51875584-Alternative-A;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative G tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt GTCATGATAGTC CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttGgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAgtcatgatagtcAGATCGAGACCCGACGC chr15:51875584-Alternative-G;Patient-26 chr15:51875584-TC DeNovo Patient-26 intronic DMXL2 NA 9.9e-05 0.04 3.18 0 DMXL2 39382 Alternative A tcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgt AATGAAGACGAG CGACGCGGTCTCTCTCTtcattgttcaattcccacctatgagtgagaatatgcggtgtttggtttttAgttcttgcgatagtttactgagaatgttggtttccaatttcatccatgtAGAGGGAGACGGACGTCTCAATAAaatgaagacgagAGATCGAGACCCGACGC chr15:51875584-Alternative-A;Patient-26 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative G ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta ATCGTCAATGGT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAatcgtcaatggtAGATCGAGACCCGACGC chr15:51889633-Alternative-G;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative G ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta CATAGTGGTAAG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAcatagtggtaagAGATCGAGACCCGACGC chr15:51889633-Alternative-G;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative T ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GTGACGACGAGT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAgtgacgacgagtAGATCGAGACCCGACGC chr15:51889633-Alternative-T;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative T ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta ACTCAACACGAT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAactcaacacgatAGATCGAGACCCGACGC chr15:51889633-Alternative-T;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative T ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta ACTGGTGGTCGA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAactggtggtcgaAGATCGAGACCCGACGC chr15:51889633-Alternative-T;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative G ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AGCAGGACATGA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAagcaggacatgaAGATCGAGACCCGACGC chr15:51889633-Alternative-G;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative T ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AGCACGTTCCGA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAagcacgttccgaAGATCGAGACCCGACGC chr15:51889633-Alternative-T;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative T ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AACCGATAAGCA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgTttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaaccgataagcaAGATCGAGACCCGACGC chr15:51889633-Alternative-T;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Variant A ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AATAACGGTCCT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaataacggtcctAGATCGAGACCCGACGC chr15:51889633-Variant-A;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Variant A ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta CGAACATCGGAC CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAcgaacatcggacAGATCGAGACCCGACGC chr15:51889633-Variant-A;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Variant A ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GTCTCGTAACAT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAgtctcgtaacatAGATCGAGACCCGACGC chr15:51889633-Variant-A;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Variant A ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GCATGATCCTGG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAgcatgatcctggAGATCGAGACCCGACGC chr15:51889633-Variant-A;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Variant A ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AGGCGATTATGG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgAttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaggcgattatggAGATCGAGACCCGACGC chr15:51889633-Variant-A;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Reference C ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GTAACGGATAAG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAgtaacggataagAGATCGAGACCCGACGC chr15:51889633-Reference-C;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Reference C ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AATGCCGACGCA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaatgccgacgcaAGATCGAGACCCGACGC chr15:51889633-Reference-C;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Reference C ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AGCCAGGCTACA CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAagccaggctacaAGATCGAGACCCGACGC chr15:51889633-Reference-C;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Reference C ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AACTATGTTGCG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaactatgttgcgAGATCGAGACCCGACGC chr15:51889633-Reference-C;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative G ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GCGACCACATTC CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAgcgaccacattcAGATCGAGACCCGACGC chr15:51889633-Alternative-G;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Reference C ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta GGTAGTACTTGT CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgCttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAggtagtacttgtAGATCGAGACCCGACGC chr15:51889633-Reference-C;Patient-37 chr15:51889633-CA Inherited Patient-37 intronic DMXL2 0.000159 4.95e-05 0.37 8.1 0.66 DMXL2 25333 Alternative G ttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgta AACTCTATCGAG CGACGCGGTCTCTCTCTttagttttgcctcccctctgaactttatgtaaatggaatcatactgtatgGttttgtgtctctttctctgaacattaggtcagaagtttatcctggtgtaAGAGGGAGACGGACGTCTCAATAAaactctatcgagAGATCGAGACCCGACGC chr15:51889633-Alternative-G;Patient-37 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Variant A tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CGGATCGATGCA CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcggatcgatgcaAGATCGAGACCCGACGC chr15:52235445-Variant-A;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Variant A tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CTTGTCAACATC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAActtgtcaacatcAGATCGAGACCCGACGC chr15:52235445-Variant-A;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Reference G tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt ACGGCTGACGTT CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAacggctgacgttAGATCGAGACCCGACGC chr15:52235445-Reference-G;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative T tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CTAATGCCACGA CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAActaatgccacgaAGATCGAGACCCGACGC chr15:52235445-Alternative-T;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative C tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt ACGACGTACCTT CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAacgacgtaccttAGATCGAGACCCGACGC chr15:52235445-Alternative-C;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative T tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CACTTCGTTAAC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcacttcgttaacAGATCGAGACCCGACGC chr15:52235445-Alternative-T;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative C tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CATTCAACGCTT CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcattcaacgcttAGATCGAGACCCGACGC chr15:52235445-Alternative-C;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative C tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CAGCGTCTACAC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcagcgtctacacAGATCGAGACCCGACGC chr15:52235445-Alternative-C;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Reference G tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CAAGGTTGTGAA CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcaaggttgtgaaAGATCGAGACCCGACGC chr15:52235445-Reference-G;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative C tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CATTGCCTAGTT CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcattgcctagttAGATCGAGACCCGACGC chr15:52235445-Alternative-C;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Variant A tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt CAACAGAGAATC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAcaacagagaatcAGATCGAGACCCGACGC chr15:52235445-Variant-A;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Variant A tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt GAGCACGAACAG CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAgagcacgaacagAGATCGAGACCCGACGC chr15:52235445-Variant-A;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Reference G tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt GTTACGCGAAGG CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAgttacgcgaaggAGATCGAGACCCGACGC chr15:52235445-Reference-G;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative T tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt ACTAACAAGGAC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAactaacaaggacAGATCGAGACCCGACGC chr15:52235445-Alternative-T;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Reference G tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt AGGTGCGCTAGT CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAaggtgcgctagtAGATCGAGACCCGACGC chr15:52235445-Reference-G;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Reference G tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt GGTTAGAGCGAC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcGggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAggttagagcgacAGATCGAGACCCGACGC chr15:52235445-Reference-G;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative C tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt ATCCTAGCGATA CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcCggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAatcctagcgataAGATCGAGACCCGACGC chr15:52235445-Alternative-C;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative T tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt GAGCAGCATCAG CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAgagcagcatcagAGATCGAGACCCGACGC chr15:52235445-Alternative-T;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Alternative T tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt AGCTACCGAATC CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcTggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAagctaccgaatcAGATCGAGACCCGACGC chr15:52235445-Alternative-T;Patient-108 chr15:52235445-GA DeNovo Patient-108 intronic LEO1 0.000163 9.47e-05 -0.26 0.47 -0.7 LEO1 28512 Variant A tgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgctt ATAACTAACGCG CGACGCGGTCTCTCTCTtgaaaccccatgtctactaaaaatacaaaaaactagccaggcgtggtggcAggcacctgtaatcccagatacttgggaggctgaggcaggagaatcgcttAGAGGGAGACGGACGTCTCAATAAataactaacgcgAGATCGAGACCCGACGC chr15:52235445-Variant-A;Patient-108 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative A catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct AGATTAGCAACG CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAagattagcaacgAGATCGAGACCCGACGC chr15:52614528-Alternative-A;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative A catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct AGCATGCCATAT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAagcatgccatatAGATCGAGACCCGACGC chr15:52614528-Alternative-A;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative G catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct CTCTGCTATACT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAActctgctatactAGATCGAGACCCGACGC chr15:52614528-Alternative-G;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative A catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct ACTACGACGTGC CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAactacgacgtgcAGATCGAGACCCGACGC chr15:52614528-Alternative-A;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Variant T catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct CGTCTATTCTGA CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAcgtctattctgaAGATCGAGACCCGACGC chr15:52614528-Variant-T;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Variant T catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct CATGCGCTATCG CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAcatgcgctatcgAGATCGAGACCCGACGC chr15:52614528-Variant-T;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative A catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct ACACCGATCGAG CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAacaccgatcgagAGATCGAGACCCGACGC chr15:52614528-Alternative-A;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative G catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct AAGTGTCCGTCT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAaagtgtccgtctAGATCGAGACCCGACGC chr15:52614528-Alternative-G;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Variant T catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct ACCGTTGCTACC CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAaccgttgctaccAGATCGAGACCCGACGC chr15:52614528-Variant-T;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative A catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GTGCGACTCTAC CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgActgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgtgcgactctacAGATCGAGACCCGACGC chr15:52614528-Alternative-A;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Reference C catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GTTCGCGTATGC CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgttcgcgtatgcAGATCGAGACCCGACGC chr15:52614528-Reference-C;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Reference C catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GTAATCAACGAG CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgtaatcaacgagAGATCGAGACCCGACGC chr15:52614528-Reference-C;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Reference C catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GTTAGACCTAGA CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgttagacctagaAGATCGAGACCCGACGC chr15:52614528-Reference-C;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Reference C catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct AGCGTCGCATGT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAagcgtcgcatgtAGATCGAGACCCGACGC chr15:52614528-Reference-C;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Reference C catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct CGGCGATAGTCA CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgCctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAcggcgatagtcaAGATCGAGACCCGACGC chr15:52614528-Reference-C;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Variant T catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GAAGTTGAGCAA CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgaagttgagcaaAGATCGAGACCCGACGC chr15:52614528-Variant-T;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative G catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GCGCCTATGAGA CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgcgcctatgagaAGATCGAGACCCGACGC chr15:52614528-Alternative-G;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Variant T catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GACTAGTCAACT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgTctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAgactagtcaactAGATCGAGACCCGACGC chr15:52614528-Variant-T;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative G catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct CGCAGTCGATAT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAcgcagtcgatatAGATCGAGACCCGACGC chr15:52614528-Alternative-G;Patient-33 chr15:52614528-CT DeNovo Patient-33 intronic MYO5A 0.000605 0.000125723 NA NA NA MYO5C 26532 Alternative G catcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcct GGCAAGCATGAT CGACGCGGTCTCTCTCTcatcttctcagggactaggccttgctcatctctgtgtttcccatcatctgGctgtcagtgctcaggaagtgccgctgggcaccttctctgctgccctcctAGAGGGAGACGGACGTCTCAATAAggcaagcatgatAGATCGAGACCCGACGC chr15:52614528-Alternative-G;Patient-33 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative C ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CGCCATGCTTCT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAcgccatgcttctAGATCGAGACCCGACGC chr15:52742848-Alternative-C;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Variant A ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct ATAGCCGGCTGT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAatagccggctgtAGATCGAGACCCGACGC chr15:52742848-Variant-A;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Reference G ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct ACCAAGAACGAT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAaccaagaacgatAGATCGAGACCCGACGC chr15:52742848-Reference-G;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative C ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GTTGTGGTATCA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAgttgtggtatcaAGATCGAGACCCGACGC chr15:52742848-Alternative-C;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Reference G ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GAGACTGCGAAG CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAgagactgcgaagAGATCGAGACCCGACGC chr15:52742848-Reference-G;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative C ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CTCAATCTGACT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAActcaatctgactAGATCGAGACCCGACGC chr15:52742848-Alternative-C;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative C ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GCGCACTTGGAA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAgcgcacttggaaAGATCGAGACCCGACGC chr15:52742848-Alternative-C;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative T ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CTAGCGACACCT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAActagcgacacctAGATCGAGACCCGACGC chr15:52742848-Alternative-T;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative C ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CAGTATACGTGT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaCtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAcagtatacgtgtAGATCGAGACCCGACGC chr15:52742848-Alternative-C;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Variant A ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct AGATGCTCACGA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAagatgctcacgaAGATCGAGACCCGACGC chr15:52742848-Variant-A;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative T ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct AGCCGTGAAGCT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAagccgtgaagctAGATCGAGACCCGACGC chr15:52742848-Alternative-T;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Reference G ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GCATCGGATGCT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAgcatcggatgctAGATCGAGACCCGACGC chr15:52742848-Reference-G;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Reference G ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CTCTAACCTTGA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAActctaaccttgaAGATCGAGACCCGACGC chr15:52742848-Reference-G;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Variant A ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CGACGAGGTAGT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAcgacgaggtagtAGATCGAGACCCGACGC chr15:52742848-Variant-A;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative T ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CAACCTTGCTTC CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAcaaccttgcttcAGATCGAGACCCGACGC chr15:52742848-Alternative-T;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Variant A ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GGCTGCGGATAT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAggctgcggatatAGATCGAGACCCGACGC chr15:52742848-Variant-A;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative T ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct ACCGGCGGATAT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAaccggcggatatAGATCGAGACCCGACGC chr15:52742848-Alternative-T;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Alternative T ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct CTTACGAGCGCA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaTtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAActtacgagcgcaAGATCGAGACCCGACGC chr15:52742848-Alternative-T;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Reference G ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct GCCGAACGTACA CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaGtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAgccgaacgtacaAGATCGAGACCCGACGC chr15:52742848-Reference-G;Patient-50 chr15:52742848-GA DeNovo Patient-50 intronic MYO5A NA 4.19e-05 0.11 4.41 0.23 MYO5A 78398 Variant A ggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtct AACGCATCCGGT CGACGCGGTCTCTCTCTggaggctgcaagagccaagatggtgccactgtactccagcctggatgacaAtgagaacttgtctcaaaaaaaaaaaaaaaaaaatttagaaacaaggtctAGAGGGAGACGGACGTCTCAATAAaacgcatccggtAGATCGAGACCCGACGC chr15:52742848-Variant-A;Patient-50 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Variant A ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata CAGCGACATTAT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAcagcgacattatAGATCGAGACCCGACGC chr15:54275563-Variant-A;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative G ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata ACAACCGTACTT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAacaaccgtacttAGATCGAGACCCGACGC chr15:54275563-Alternative-G;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative C ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata CTGAACAACTGA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAActgaacaactgaAGATCGAGACCCGACGC chr15:54275563-Alternative-C;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative C ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata CTCGGCTAGGTT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAActcggctaggttAGATCGAGACCCGACGC chr15:54275563-Alternative-C;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative C ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata AGCCGTCAGCTT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAagccgtcagcttAGATCGAGACCCGACGC chr15:54275563-Alternative-C;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Variant A ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GATTCTGGTCAA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgattctggtcaaAGATCGAGACCCGACGC chr15:54275563-Variant-A;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative C ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GCACCATTAGCA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgcaccattagcaAGATCGAGACCCGACGC chr15:54275563-Alternative-C;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Variant A ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata AACCGGTGCGTT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAaaccggtgcgttAGATCGAGACCCGACGC chr15:54275563-Variant-A;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative G ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GTTAACCTGGAG CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgttaacctggagAGATCGAGACCCGACGC chr15:54275563-Alternative-G;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative G ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GTCAGATGCCGA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgtcagatgccgaAGATCGAGACCCGACGC chr15:54275563-Alternative-G;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative C ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GACGACAGTATC CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcCgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgacgacagtatcAGATCGAGACCCGACGC chr15:54275563-Alternative-C;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative G ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GTACAATACGCT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgtacaatacgctAGATCGAGACCCGACGC chr15:54275563-Alternative-G;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Variant A ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata ATTGCTCGGTAA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAattgctcggtaaAGATCGAGACCCGACGC chr15:54275563-Variant-A;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Variant A ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata ACGTTCGCAACG CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcAgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAacgttcgcaacgAGATCGAGACCCGACGC chr15:54275563-Variant-A;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Reference T ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata ATCCGGCTCTGT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAatccggctctgtAGATCGAGACCCGACGC chr15:54275563-Reference-T;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Reference T ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GGCAAGCCTTAT CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAggcaagccttatAGATCGAGACCCGACGC chr15:54275563-Reference-T;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Alternative G ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GGATGGTCATAA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcGgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAggatggtcataaAGATCGAGACCCGACGC chr15:54275563-Alternative-G;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Reference T ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata CAGTCGGAGTCA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAcagtcggagtcaAGATCGAGACCCGACGC chr15:54275563-Reference-T;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Reference T ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GGAACAGCGTGA CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAggaacagcgtgaAGATCGAGACCCGACGC chr15:54275563-Reference-T;Patient-87 chr15:54275563-TA Inherited Patient-87 intergenic 0.000162 0.000513 0.08 3.96 -0.05 UNC13C 29537 Reference T ctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttata GATCGGAATCGG CGACGCGGTCTCTCTCTctcaatgagaatatgttagacaaaagagggctgcagggagctctcgtggcTgaaggggaaatttaactatgaagcttctcagacctaaggaaaatttataAGAGGGAGACGGACGTCTCAATAAgatcggaatcggAGATCGAGACCCGACGC chr15:54275563-Reference-T;Patient-87 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Reference G aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AATGAGAGCCTA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaatgagagcctaAGATCGAGACCCGACGC chr15:55843318-Reference-G;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative C aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc CTAAGCATAAGG CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAActaagcataaggAGATCGAGACCCGACGC chr15:55843318-Alternative-C;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative T aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AACTCTAAGCGT CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaactctaagcgtAGATCGAGACCCGACGC chr15:55843318-Alternative-T;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Reference G aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AATACGGACAAC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaatacggacaacAGATCGAGACCCGACGC chr15:55843318-Reference-G;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative C aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GTCAGTGTGATA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgtcagtgtgataAGATCGAGACCCGACGC chr15:55843318-Alternative-C;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative T aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc ATCTCCGTCGGT CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAatctccgtcggtAGATCGAGACCCGACGC chr15:55843318-Alternative-T;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative C aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AAGTTGACGCTA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaagttgacgctaAGATCGAGACCCGACGC chr15:55843318-Alternative-C;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Variant A aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GCAGGTAGATGA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgcaggtagatgaAGATCGAGACCCGACGC chr15:55843318-Variant-A;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Variant A aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AGGTAAGCCGAA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaggtaagccgaaAGATCGAGACCCGACGC chr15:55843318-Variant-A;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative T aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AGCGGTTGAACG CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAagcggttgaacgAGATCGAGACCCGACGC chr15:55843318-Alternative-T;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Variant A aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GTCGCATGTCCT CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgtcgcatgtcctAGATCGAGACCCGACGC chr15:55843318-Variant-A;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Variant A aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GATATGGTGTGA CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgatatggtgtgaAGATCGAGACCCGACGC chr15:55843318-Variant-A;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative T aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GCATCGAGTATC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgcatcgagtatcAGATCGAGACCCGACGC chr15:55843318-Alternative-T;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative C aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc ACTTAAGTCGTC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAacttaagtcgtcAGATCGAGACCCGACGC chr15:55843318-Alternative-C;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Variant A aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GACGCGAGAATC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctActgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAgacgcgagaatcAGATCGAGACCCGACGC chr15:55843318-Variant-A;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Reference G aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc CTGTCTTACCAT CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAActgtcttaccatAGATCGAGACCCGACGC chr15:55843318-Reference-G;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Reference G aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc ACCTCGATTCGC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAacctcgattcgcAGATCGAGACCCGACGC chr15:55843318-Reference-G;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative T aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc CGTAGATGGTGG CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctTctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAcgtagatggtggAGATCGAGACCCGACGC chr15:55843318-Alternative-T;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Alternative C aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc GGCTCGTTAGGT CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctCctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAggctcgttaggtAGATCGAGACCCGACGC chr15:55843318-Alternative-C;Patient-55 chr15:55843318-GA Inherited Patient-55 intronic PYGO1 0.000159 4.95e-05 -0.05 1.91 0.23 PYGO1 37731 Reference G aggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggc AATGTCACGACC CGACGCGGTCTCTCTCTaggaggcggagctcaggcagtaatgctcgctcacccgccagtcacctcctGctgtgtggcctggttcctaacagggcatggactagtaccagtccgtggcAGAGGGAGACGGACGTCTCAATAAaatgtcacgaccAGATCGAGACCCGACGC chr15:55843318-Reference-G;Patient-55 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative G tagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CATAGACCGAAG CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAcatagaccgaagAGATCGAGACCCGACGC chr15:57277921-Alternative-G;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Reference T tagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GTAGAGCGATAT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAgtagagcgatatAGATCGAGACCCGACGC chr15:57277921-Reference-T;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Reference T tagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CTATCGGATTGT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAActatcggattgtAGATCGAGACCCGACGC chr15:57277921-Reference-T;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative G tagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GGTTCTGTCTTA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAggttctgtcttaAGATCGAGACCCGACGC chr15:57277921-Alternative-G;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Reference T tagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GTCTATCGCGTC CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAgtctatcgcgtcAGATCGAGACCCGACGC chr15:57277921-Reference-T;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative A tagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataac AACGTGTGGCGT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAaacgtgtggcgtAGATCGAGACCCGACGC chr15:57277921-Alternative-A;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Reference T tagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataac AATCGTTCCGCG CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAaatcgttccgcgAGATCGAGACCCGACGC chr15:57277921-Reference-T;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative G tagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataac ACAAGCTGGACA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAacaagctggacaAGATCGAGACCCGACGC chr15:57277921-Alternative-G;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Reference T tagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CGAGCACTGAGT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttTtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAcgagcactgagtAGATCGAGACCCGACGC chr15:57277921-Reference-T;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative G tagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GTCTACGCGGAA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAgtctacgcggaaAGATCGAGACCCGACGC chr15:57277921-Alternative-G;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative A tagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataac AGCGCAAGGCAA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAagcgcaaggcaaAGATCGAGACCCGACGC chr15:57277921-Alternative-A;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative A tagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CGGTCTAGGTAA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAcggtctaggtaaAGATCGAGACCCGACGC chr15:57277921-Alternative-A;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative A tagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CGATGTGCAACC CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAcgatgtgcaaccAGATCGAGACCCGACGC chr15:57277921-Alternative-A;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Variant C tagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataac AGCAGGATCAAG CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAagcaggatcaagAGATCGAGACCCGACGC chr15:57277921-Variant-C;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Variant C tagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataac ACATAAGACGAC CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAacataagacgacAGATCGAGACCCGACGC chr15:57277921-Variant-C;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Variant C tagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataac AGGCTTGTGCGT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAaggcttgtgcgtAGATCGAGACCCGACGC chr15:57277921-Variant-C;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Variant C tagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GATTGCAAGAAG CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAgattgcaagaagAGATCGAGACCCGACGC chr15:57277921-Variant-C;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative A tagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataac CTACGACTCGCT CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttAtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAActacgactcgctAGATCGAGACCCGACGC chr15:57277921-Alternative-A;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Variant C tagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GTCGATACGTCC CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttCtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAgtcgatacgtccAGATCGAGACCCGACGC chr15:57277921-Variant-C;Patient-71 chr15:57277921-TC DeNovo Patient-71 intronic TCF12 NA 9.9e-05 1.13 14.07 4.48 TCF12 67087 Alternative G tagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataac GGACAGTTGCGA CGACGCGGTCTCTCTCTtagagtatatcattatttaccccatagtacctacctaatgaaatctagttGtaatgattctttttaggacaccaaagctcatgaagcctattacaataacAGAGGGAGACGGACGTCTCAATAAggacagttgcgaAGATCGAGACCCGACGC chr15:57277921-Alternative-G;Patient-71 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Reference C ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GACGAATTACGA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgacgaattacgaAGATCGAGACCCGACGC chr15:58952606-Reference-C;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Reference C ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GTTACCTGTTGT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgttacctgttgtAGATCGAGACCCGACGC chr15:58952606-Reference-C;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative A ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CGAATAGATGCA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAcgaatagatgcaAGATCGAGACCCGACGC chr15:58952606-Alternative-A;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Reference C ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CTGCGAGACACT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAActgcgagacactAGATCGAGACCCGACGC chr15:58952606-Reference-C;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Reference C ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CAGCTTAGGATT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAcagcttaggattAGATCGAGACCCGACGC chr15:58952606-Reference-C;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative A ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GCAGGCGTCTAT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgcaggcgtctatAGATCGAGACCCGACGC chr15:58952606-Alternative-A;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative A ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CAAGACGTCGTC CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAcaagacgtcgtcAGATCGAGACCCGACGC chr15:58952606-Alternative-A;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Reference C ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GTAGCGCGAGAT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaCgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgtagcgcgagatAGATCGAGACCCGACGC chr15:58952606-Reference-C;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Variant T ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttctta AGATAGACACAC CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAagatagacacacAGATCGAGACCCGACGC chr15:58952606-Variant-T;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative A ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GCGTACGTCCTA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgcgtacgtcctaAGATCGAGACCCGACGC chr15:58952606-Alternative-A;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Variant T ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CAACGATCGTCG CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAcaacgatcgtcgAGATCGAGACCCGACGC chr15:58952606-Variant-T;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Variant T ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttctta AATGATCGCGTT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAaatgatcgcgttAGATCGAGACCCGACGC chr15:58952606-Variant-T;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Variant T ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GATAGCTACCGT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgatagctaccgtAGATCGAGACCCGACGC chr15:58952606-Variant-T;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative A ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttctta AACGACTACGAA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaAgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAaacgactacgaaAGATCGAGACCCGACGC chr15:58952606-Alternative-A;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative G ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttctta AACACGGCGTTC CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAaacacggcgttcAGATCGAGACCCGACGC chr15:58952606-Alternative-G;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative G ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GACCGAAGAGCT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgaccgaagagctAGATCGAGACCCGACGC chr15:58952606-Alternative-G;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative G ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttctta AAGCGGATTAGT CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAaagcggattagtAGATCGAGACCCGACGC chr15:58952606-Alternative-G;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative G ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GATGTGACGGCA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAgatgtgacggcaAGATCGAGACCCGACGC chr15:58952606-Alternative-G;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Variant T ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttctta CAGCGATTCCGA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaTgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAcagcgattccgaAGATCGAGACCCGACGC chr15:58952606-Variant-T;Patient-37 chr15:58952606-CT Inherited Patient-37 intronic ADAM10 0.000289 0.000148 -0.16 0.95 -0.37 ADAM10 89570 Alternative G ctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttctta GGACTTACGCAA CGACGCGGTCTCTCTCTctctttaaatgttaaaactgtgtcttttcatttaaattgcatttcttttaGgctcatttggtcttttttttttaatcactctaaccatctcagtttcttaAGAGGGAGACGGACGTCTCAATAAggacttacgcaaAGATCGAGACCCGACGC chr15:58952606-Alternative-G;Patient-37 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative C gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CTTGCACCTCGA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAActtgcacctcgaAGATCGAGACCCGACGC chr15:59600451-Alternative-C;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Variant A gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct AATCACGGTTCA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAaatcacggttcaAGATCGAGACCCGACGC chr15:59600451-Variant-A;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Variant A gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct ACGTTAAGAGCA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAacgttaagagcaAGATCGAGACCCGACGC chr15:59600451-Variant-A;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Variant A gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct GCCGAAGAGCAA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAgccgaagagcaaAGATCGAGACCCGACGC chr15:59600451-Variant-A;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Variant A gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CGTTACAACCGA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcgttacaaccgaAGATCGAGACCCGACGC chr15:59600451-Variant-A;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Variant A gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct AGCGTCATATCA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAagcgtcatatcaAGATCGAGACCCGACGC chr15:59600451-Variant-A;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Reference T gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CGCTTCGGTCTA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcgcttcggtctaAGATCGAGACCCGACGC chr15:59600451-Reference-T;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative C gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct GGTAGACTTGCA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAggtagacttgcaAGATCGAGACCCGACGC chr15:59600451-Alternative-C;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative C gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct AGCCGAAGTGCT CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAagccgaagtgctAGATCGAGACCCGACGC chr15:59600451-Alternative-C;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative C gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CTTGTTGGCGAG CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAActtgttggcgagAGATCGAGACCCGACGC chr15:59600451-Alternative-C;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative C gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct GGTCTGGATAGA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAggtctggatagaAGATCGAGACCCGACGC chr15:59600451-Alternative-C;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Reference T gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CTCGTGAGCGAT CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAActcgtgagcgatAGATCGAGACCCGACGC chr15:59600451-Reference-T;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Reference T gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CGCCTAGTTAGG CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcgcctagttaggAGATCGAGACCCGACGC chr15:59600451-Reference-T;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Reference T gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CTAGTCGGCCTT CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAActagtcggccttAGATCGAGACCCGACGC chr15:59600451-Reference-T;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Reference T gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CAGATGTGTGCG CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcagatgtgtgcgAGATCGAGACCCGACGC chr15:59600451-Reference-T;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative G gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CGAAGCAGTATA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcgaagcagtataAGATCGAGACCCGACGC chr15:59600451-Alternative-G;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative G gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct GTTGACGGTCGT CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAgttgacggtcgtAGATCGAGACCCGACGC chr15:59600451-Alternative-G;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative G gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct AATGATCAGCGA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAaatgatcagcgaAGATCGAGACCCGACGC chr15:59600451-Alternative-G;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative G gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct GCGGATGCGTAT CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAgcggatgcgtatAGATCGAGACCCGACGC chr15:59600451-Alternative-G;Patient-30 chr15:59600451-TA DeNovo Patient-30 intronic MYO1E NA 4.95e-05 NA NA NA MYO1E 64619 Alternative G gacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggct CGACATCTGGCA CGACGCGGTCTCTCTCTgacagagtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaggctgggcatggtggctcacacctgtaatcccagcactttgggaggctAGAGGGAGACGGACGTCTCAATAAcgacatctggcaAGATCGAGACCCGACGC chr15:59600451-Alternative-G;Patient-30 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative T acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa CGCTTCAGACAC CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAcgcttcagacacAGATCGAGACCCGACGC chr15:59640685-Alternative-T;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative T acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa AGTTAATCTGCG CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAagttaatctgcgAGATCGAGACCCGACGC chr15:59640685-Alternative-T;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Variant G acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa AACGTAGAACGT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAaacgtagaacgtAGATCGAGACCCGACGC chr15:59640685-Variant-G;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Variant G acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa CATCGAGGCATC CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAcatcgaggcatcAGATCGAGACCCGACGC chr15:59640685-Variant-G;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Variant G acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GAGCTACATAAC CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgagctacataacAGATCGAGACCCGACGC chr15:59640685-Variant-G;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative T acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GTCATACTGGAT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgtcatactggatAGATCGAGACCCGACGC chr15:59640685-Alternative-T;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Variant G acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GCGAATAGCGAG CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgcgaatagcgagAGATCGAGACCCGACGC chr15:59640685-Variant-G;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative T acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa CGTAATCTGGCG CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAcgtaatctggcgAGATCGAGACCCGACGC chr15:59640685-Alternative-T;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Reference A acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GGTGTCGTGGTT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAggtgtcgtggttAGATCGAGACCCGACGC chr15:59640685-Reference-A;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative T acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa AATGGTACGCCA CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgTaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAaatggtacgccaAGATCGAGACCCGACGC chr15:59640685-Alternative-T;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Reference A acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa AACTCTAGCCAT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAaactctagccatAGATCGAGACCCGACGC chr15:59640685-Reference-A;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Variant G acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GTGTAATAGACG CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgGaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgtgtaatagacgAGATCGAGACCCGACGC chr15:59640685-Variant-G;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Reference A acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa ACATCGGCGTGA CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAacatcggcgtgaAGATCGAGACCCGACGC chr15:59640685-Reference-A;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Reference A acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GTGCGGAGGTTA CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgtgcggaggttaAGATCGAGACCCGACGC chr15:59640685-Reference-A;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative C acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GTTCCACTACTA CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgttccactactaAGATCGAGACCCGACGC chr15:59640685-Alternative-C;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative C acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GGTGACTCGCAT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAggtgactcgcatAGATCGAGACCCGACGC chr15:59640685-Alternative-C;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative C acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GTGCGATGGAGT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgtgcgatggagtAGATCGAGACCCGACGC chr15:59640685-Alternative-C;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative C acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GACGCATGATCG CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgacgcatgatcgAGATCGAGACCCGACGC chr15:59640685-Alternative-C;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Reference A acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa ATTCTCGCACAC CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgAaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAattctcgcacacAGATCGAGACCCGACGC chr15:59640685-Reference-A;Patient-91 chr15:59640685-AG Inherited Patient-91 intronic MYO1E NA 4.95e-05 0.03 3.05 -1.41 MYO1E 24385 Alternative C acagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaa GATGAACCGACT CGACGCGGTCTCTCTCTacagtggctctcaacctaggctgcttttaggaaccatccaggaagctttgCaaagtaatacagttgtgtctgaatccttttggtctaggatggtgcccaaAGAGGGAGACGGACGTCTCAATAAgatgaaccgactAGATCGAGACCCGACGC chr15:59640685-Alternative-C;Patient-91 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Variant G caagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGAAGACAAGCG CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcgaagacaagcgAGATCGAGACCCGACGC chr15:60000400-Variant-G;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative T caagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa ATTGCTTGCTGA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAattgcttgctgaAGATCGAGACCCGACGC chr15:60000400-Alternative-T;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Variant G caagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GCCGTGTTCCAA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgccgtgttccaaAGATCGAGACCCGACGC chr15:60000400-Variant-G;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Reference A caagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGGATCACCAAG CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcggatcaccaagAGATCGAGACCCGACGC chr15:60000400-Reference-A;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Variant G caagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GCGCGCGTATAT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgcgcgcgtatatAGATCGAGACCCGACGC chr15:60000400-Variant-G;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Variant G caagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa AGAGGTAGGTTA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAagaggtaggttaAGATCGAGACCCGACGC chr15:60000400-Variant-G;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Variant G caagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GTAACATGACCT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttGtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgtaacatgacctAGATCGAGACCCGACGC chr15:60000400-Variant-G;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative C caagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGGATTCAAGTT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcggattcaagttAGATCGAGACCCGACGC chr15:60000400-Alternative-C;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative T caagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGATGCGCTTGT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcgatgcgcttgtAGATCGAGACCCGACGC chr15:60000400-Alternative-T;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative T caagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GAGTAGTCACCA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgagtagtcaccaAGATCGAGACCCGACGC chr15:60000400-Alternative-T;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative C caagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa AAGTGTTGCAAG CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAaagtgttgcaagAGATCGAGACCCGACGC chr15:60000400-Alternative-C;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative T caagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CTCGCGCAACTA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAActcgcgcaactaAGATCGAGACCCGACGC chr15:60000400-Alternative-T;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative T caagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GAGATACCTGCG CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttTtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgagatacctgcgAGATCGAGACCCGACGC chr15:60000400-Alternative-T;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative C caagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa ACCGCATCGTTC CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAaccgcatcgttcAGATCGAGACCCGACGC chr15:60000400-Alternative-C;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative C caagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGGCTCCATTGT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcggctccattgtAGATCGAGACCCGACGC chr15:60000400-Alternative-C;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Reference A caagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa CGAAGGTGGATT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAcgaaggtggattAGATCGAGACCCGACGC chr15:60000400-Reference-A;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Reference A caagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GCAGGACGCATA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgcaggacgcataAGATCGAGACCCGACGC chr15:60000400-Reference-A;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Alternative C caagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa AGTGTCGTTAGT CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttCtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAagtgtcgttagtAGATCGAGACCCGACGC chr15:60000400-Alternative-C;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Reference A caagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa ACGCAGATACGG CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAacgcagatacggAGATCGAGACCCGACGC chr15:60000400-Reference-A;Patient-28 chr15:60000400-AG DeNovo Patient-28 intergenic NA 0.000512821 -0.44 0.14 -4.72 BNIP2 18757 Reference A caagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaa GACGATCAGGCA CGACGCGGTCTCTCTCTcaagtctaatggactctttctttataatttattactagttttttcttcttAtattctgctgtcagtacctcagttcaggactttttcttctcatcttaaaAGAGGGAGACGGACGTCTCAATAAgacgatcaggcaAGATCGAGACCCGACGC chr15:60000400-Reference-A;Patient-28 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Variant G cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct CACTTAGTACAG CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAcacttagtacagAGATCGAGACCCGACGC chr15:60648863-Variant-G;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Variant G cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct ACATATGCGTGT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAacatatgcgtgtAGATCGAGACCCGACGC chr15:60648863-Variant-G;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative T cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct GGCGATTCTGGT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAggcgattctggtAGATCGAGACCCGACGC chr15:60648863-Alternative-T;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Variant G cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AAGGAGTCACTA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAaaggagtcactaAGATCGAGACCCGACGC chr15:60648863-Variant-G;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Variant G cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct CTTAGGACGTGA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAActtaggacgtgaAGATCGAGACCCGACGC chr15:60648863-Variant-G;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative T cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AGCTACCATTGA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAagctaccattgaAGATCGAGACCCGACGC chr15:60648863-Alternative-T;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative T cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct GTATCCGGCGTT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAgtatccggcgttAGATCGAGACCCGACGC chr15:60648863-Alternative-T;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Reference A cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct ACGCCAAGTAAT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAacgccaagtaatAGATCGAGACCCGACGC chr15:60648863-Reference-A;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative T cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AGGACGGACATA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAaggacggacataAGATCGAGACCCGACGC chr15:60648863-Alternative-T;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Variant G cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct GTTGGAAGTACA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaGagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAgttggaagtacaAGATCGAGACCCGACGC chr15:60648863-Variant-G;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Reference A cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AATATAGGCACG CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAaatataggcacgAGATCGAGACCCGACGC chr15:60648863-Reference-A;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative C cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct ATTGACGGACGG CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAattgacggacggAGATCGAGACCCGACGC chr15:60648863-Alternative-C;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Reference A cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AGTGAACCGTGC CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAagtgaaccgtgcAGATCGAGACCCGACGC chr15:60648863-Reference-A;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative C cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct ACGCAAGCCAAC CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAacgcaagccaacAGATCGAGACCCGACGC chr15:60648863-Alternative-C;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Reference A cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct GCCGGTTAATAA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAgccggttaataaAGATCGAGACCCGACGC chr15:60648863-Reference-A;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative C cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct CATGTTGCAAGT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAcatgttgcaagtAGATCGAGACCCGACGC chr15:60648863-Alternative-C;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative C cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct ATCACGCGCAAG CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAatcacgcgcaagAGATCGAGACCCGACGC chr15:60648863-Alternative-C;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Reference A cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct AGACCATGCTAA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaAagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAagaccatgctaaAGATCGAGACCCGACGC chr15:60648863-Reference-A;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative C cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct CAACTGGCCGAT CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaCagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAcaactggccgatAGATCGAGACCCGACGC chr15:60648863-Alternative-C;Patient-63 chr15:60648863-AG Inherited Patient-63 intronic ANXA2 NA 4.95e-05 -0.8 0.01 -1.89 ANXA2 41321 Alternative T cccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcct CAAGTTGAACGA CGACGCGGTCTCTCTCTcccccaaaatatgtaaaactatgataataactttaaaaagtaaaacaaaaTagaaatgcagtagcgatgtaagttgcattgtttattcccctcatagcctAGAGGGAGACGGACGTCTCAATAAcaagttgaacgaAGATCGAGACCCGACGC chr15:60648863-Alternative-T;Patient-63 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative T aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GCATTCTGACGG CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgcattctgacggAGATCGAGACCCGACGC chr15:61503206-Alternative-T;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative T aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GCAGGATAAGTT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgcaggataagttAGATCGAGACCCGACGC chr15:61503206-Alternative-T;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative T aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ACGCGATGGAGA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAacgcgatggagaAGATCGAGACCCGACGC chr15:61503206-Alternative-T;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Reference G aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ATCCTACGATGA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAatcctacgatgaAGATCGAGACCCGACGC chr15:61503206-Reference-G;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative T aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GGATAGATGCCG CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAggatagatgccgAGATCGAGACCCGACGC chr15:61503206-Alternative-T;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Reference G aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GTAAGTCCGGAT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgtaagtccggatAGATCGAGACCCGACGC chr15:61503206-Reference-G;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Reference G aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga AGGCGACAGTAC CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAaggcgacagtacAGATCGAGACCCGACGC chr15:61503206-Reference-G;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative T aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ATAACAACGCCT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctTgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAataacaacgcctAGATCGAGACCCGACGC chr15:61503206-Alternative-T;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Reference G aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GAGTAACGGCGT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgagtaacggcgtAGATCGAGACCCGACGC chr15:61503206-Reference-G;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Reference G aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GTCATCGCGGTT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctGgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgtcatcgcggttAGATCGAGACCCGACGC chr15:61503206-Reference-G;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Variant A aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GGAACCTGTTCG CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAggaacctgttcgAGATCGAGACCCGACGC chr15:61503206-Variant-A;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Variant A aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ACGTGTCGCATA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAacgtgtcgcataAGATCGAGACCCGACGC chr15:61503206-Variant-A;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Variant A aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga CGGAGCCATTGA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAcggagccattgaAGATCGAGACCCGACGC chr15:61503206-Variant-A;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative C aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ATAGAGGCATCG CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAatagaggcatcgAGATCGAGACCCGACGC chr15:61503206-Alternative-C;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Variant A aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga CGGACGGCATAA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAcggacggcataaAGATCGAGACCCGACGC chr15:61503206-Variant-A;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative C aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GGTTAACGACGG CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAggttaacgacggAGATCGAGACCCGACGC chr15:61503206-Alternative-C;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative C aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ATAGGAGCCATA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAataggagccataAGATCGAGACCCGACGC chr15:61503206-Alternative-C;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative C aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga CGGCTCGTCTAT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAcggctcgtctatAGATCGAGACCCGACGC chr15:61503206-Alternative-C;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Alternative C aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga GATTCTGCGATA CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctCgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAgattctgcgataAGATCGAGACCCGACGC chr15:61503206-Alternative-C;Patient-49 chr15:61503206-GA DeNovo Patient-49 intronic RORA NA 4.95e-05 1.92 18.44 2.68 RORA 18311 Variant A aaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaagga ATTCGACCTCTT CGACGCGGTCTCTCTCTaaagcagtcaagccggagaactcccgaaggtggttctcaggtaaccagctAgttagatttcatcttgtgtgagtttagctttgcctagctaggccaaggaAGAGGGAGACGGACGTCTCAATAAattcgacctcttAGATCGAGACCCGACGC chr15:61503206-Variant-A;Patient-49 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative C tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CATAGTGTTGCA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcatagtgttgcaAGATCGAGACCCGACGC chr15:62386174-Alternative-C;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative C tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GCAAGCTAACAT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgcaagctaacatAGATCGAGACCCGACGC chr15:62386174-Alternative-C;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Variant A tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CGACACGGCTAT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcgacacggctatAGATCGAGACCCGACGC chr15:62386174-Variant-A;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Variant A tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GTCGTAACCACG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgtcgtaaccacgAGATCGAGACCCGACGC chr15:62386174-Variant-A;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Reference G tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CACGTACATTGT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcacgtacattgtAGATCGAGACCCGACGC chr15:62386174-Reference-G;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative C tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CGAGAGTCAACG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcgagagtcaacgAGATCGAGACCCGACGC chr15:62386174-Alternative-C;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Variant A tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggc AACTCCGATCTA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAaactccgatctaAGATCGAGACCCGACGC chr15:62386174-Variant-A;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative T tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CAACAGCGAGGT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcaacagcgaggtAGATCGAGACCCGACGC chr15:62386174-Alternative-T;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative T tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggc ACTTGTCTAAGG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAacttgtctaaggAGATCGAGACCCGACGC chr15:62386174-Alternative-T;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Reference G tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GGCGATTGATGG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAggcgattgatggAGATCGAGACCCGACGC chr15:62386174-Reference-G;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative C tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GACCTACGCTTA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgacctacgcttaAGATCGAGACCCGACGC chr15:62386174-Alternative-C;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative C tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CTAATATGCCGT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctCaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAActaatatgccgtAGATCGAGACCCGACGC chr15:62386174-Alternative-C;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative T tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GTGCTAACTACG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgtgctaactacgAGATCGAGACCCGACGC chr15:62386174-Alternative-T;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative T tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CAGTTGGTTAAC CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcagttggttaacAGATCGAGACCCGACGC chr15:62386174-Alternative-T;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Reference G tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GCCTTCGGTTGT CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgccttcggttgtAGATCGAGACCCGACGC chr15:62386174-Reference-G;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Reference G tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GACTACTTACGA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgactacttacgaAGATCGAGACCCGACGC chr15:62386174-Reference-G;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Alternative T tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CTTAACGGCGCA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctTaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAActtaacggcgcaAGATCGAGACCCGACGC chr15:62386174-Alternative-T;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Variant A tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggc GTAGTGCGGTCA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAgtagtgcggtcaAGATCGAGACCCGACGC chr15:62386174-Variant-A;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Reference G tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggc AGCGCGCAACTA CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctGaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAagcgcgcaactaAGATCGAGACCCGACGC chr15:62386174-Reference-G;Patient-12 chr15:62386174-GA DeNovo Patient-12 intergenic NA 0.000513 NA NA NA VPS13C 33509 Variant A tttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggc CGAATCCTGTGG CGACGCGGTCTCTCTCTtttagagtcaaactgattagtcatcaacgatcaggatatagcattggcctAaattatatcatacgaatagacatggtcagggctgcctttatggttgggcAGAGGGAGACGGACGTCTCAATAAcgaatcctgtggAGATCGAGACCCGACGC chr15:62386174-Variant-A;Patient-12 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Reference G ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact ACGCGTGTATCG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAacgcgtgtatcgAGATCGAGACCCGACGC chr15:62424189-Reference-G;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative T ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GTCTAGACTTGA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAgtctagacttgaAGATCGAGACCCGACGC chr15:62424189-Alternative-T;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative T ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact ACCTATCTCCGA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAacctatctccgaAGATCGAGACCCGACGC chr15:62424189-Alternative-T;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Reference G ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CGACGTGTATCG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAcgacgtgtatcgAGATCGAGACCCGACGC chr15:62424189-Reference-G;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative T ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CGTTGAGGACAG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAcgttgaggacagAGATCGAGACCCGACGC chr15:62424189-Alternative-T;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Reference G ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GGTCGAGGACAT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAggtcgaggacatAGATCGAGACCCGACGC chr15:62424189-Reference-G;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Reference G ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CGTTAACGCATA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAcgttaacgcataAGATCGAGACCCGACGC chr15:62424189-Reference-G;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative T ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GGACTCTTAGCG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAggactcttagcgAGATCGAGACCCGACGC chr15:62424189-Alternative-T;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Reference G ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CGGCTTGGATGA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcGtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAcggcttggatgaAGATCGAGACCCGACGC chr15:62424189-Reference-G;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Variant A ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CTTACAACCGGC CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAActtacaaccggcAGATCGAGACCCGACGC chr15:62424189-Variant-A;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative C ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GTGTCGTAGTAT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAgtgtcgtagtatAGATCGAGACCCGACGC chr15:62424189-Alternative-C;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative C ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GGTTATTGATCG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAggttattgatcgAGATCGAGACCCGACGC chr15:62424189-Alternative-C;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative C ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GGCTCAAGGCAA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAggctcaaggcaaAGATCGAGACCCGACGC chr15:62424189-Alternative-C;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative C ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact ACCACACCGCAT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAaccacaccgcatAGATCGAGACCCGACGC chr15:62424189-Alternative-C;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Variant A ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact AGGCGACTGACT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAaggcgactgactAGATCGAGACCCGACGC chr15:62424189-Variant-A;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Variant A ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GCGTAGCTCGTT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAgcgtagctcgttAGATCGAGACCCGACGC chr15:62424189-Variant-A;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative T ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact GACATCTTCTGT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcTtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAgacatcttctgtAGATCGAGACCCGACGC chr15:62424189-Alternative-T;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Variant A ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CGATGGCATCAG CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAcgatggcatcagAGATCGAGACCCGACGC chr15:62424189-Variant-A;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Variant A ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact CTTGAAGCTGAT CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcAtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAActtgaagctgatAGATCGAGACCCGACGC chr15:62424189-Variant-A;Patient-36 chr15:62424189-GA DeNovo Patient-36 intergenic 9.6e-05 0.000512821 -0.27 0.46 -0.88 VPS13C 71524 Alternative C ggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagact ACTTATACGGCA CGACGCGGTCTCTCTCTggaggtgctctgttgacatggacctcctgatttcagtgagctcagtgggcCtgatgggatctcagagtggcagaggcaagctctgcatggtcaccagactAGAGGGAGACGGACGTCTCAATAAacttatacggcaAGATCGAGACCCGACGC chr15:62424189-Alternative-C;Patient-36 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative C gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GTCTATAACGGT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgtctataacggtAGATCGAGACCCGACGC chr15:63239301-Alternative-C;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative C gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGTCAAGCTAGG CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAagtcaagctaggAGATCGAGACCCGACGC chr15:63239301-Alternative-C;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Variant A gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGCTGGTAAGAA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAagctggtaagaaAGATCGAGACCCGACGC chr15:63239301-Variant-A;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative C gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGGTAACGAGCA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaggtaacgagcaAGATCGAGACCCGACGC chr15:63239301-Alternative-C;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative C gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg CGAGAAGATCAT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAcgagaagatcatAGATCGAGACCCGACGC chr15:63239301-Alternative-C;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Reference T gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg ATTCTGTCGTCA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAattctgtcgtcaAGATCGAGACCCGACGC chr15:63239301-Reference-T;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Reference T gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AATGTAAGGCGA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaatgtaaggcgaAGATCGAGACCCGACGC chr15:63239301-Reference-T;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Variant A gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GTATCGTGCGGT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgtatcgtgcggtAGATCGAGACCCGACGC chr15:63239301-Variant-A;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative C gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGGTGAACTCGG CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggCgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaggtgaactcggAGATCGAGACCCGACGC chr15:63239301-Alternative-C;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Reference T gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GATCCATTGCGG CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgatccattgcggAGATCGAGACCCGACGC chr15:63239301-Reference-T;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative G gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGCATAGAGTAC CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAagcatagagtacAGATCGAGACCCGACGC chr15:63239301-Alternative-G;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Variant A gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AGGACAGCGAAT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaggacagcgaatAGATCGAGACCCGACGC chr15:63239301-Variant-A;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Variant A gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GCATCTGACGCA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgcatctgacgcaAGATCGAGACCCGACGC chr15:63239301-Variant-A;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Reference T gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg AATGCGACAACA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaatgcgacaacaAGATCGAGACCCGACGC chr15:63239301-Reference-T;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Reference T gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GATGCTGACTAT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggTgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgatgctgactatAGATCGAGACCCGACGC chr15:63239301-Reference-T;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative G gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg ATTAACGGAACG CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAattaacggaacgAGATCGAGACCCGACGC chr15:63239301-Alternative-G;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative G gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg ACGCGGATGACT CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAacgcggatgactAGATCGAGACCCGACGC chr15:63239301-Alternative-G;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Variant A gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg ACCGTGCTGTGA CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggAgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAaccgtgctgtgaAGATCGAGACCCGACGC chr15:63239301-Variant-A;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative G gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GAATTGACCGGC CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgaattgaccggcAGATCGAGACCCGACGC chr15:63239301-Alternative-G;Patient-89 chr15:63239301-TA Inherited Patient-89 intergenic 0.000127 0.00016 -0.05 1.96 -1.16 TPM1 95536 Alternative G gtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatg GTATATCTTCGC CGACGCGGTCTCTCTCTgtggaagaggaattcacactgttgccttccaaaggtacctctagctgaggGgtgcaacagccaaggaagcccatgagtcaggtgtctgcaggacatcatgAGAGGGAGACGGACGTCTCAATAAgtatatcttcgcAGATCGAGACCCGACGC chr15:63239301-Alternative-G;Patient-89 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Reference C atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GCCGATCGTGTT CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgccgatcgtgttAGATCGAGACCCGACGC chr15:63712149-Reference-C;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Reference C atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc CTAAGGCAGTAA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAActaaggcagtaaAGATCGAGACCCGACGC chr15:63712149-Reference-C;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Variant T atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc CAACGACGTAGG CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAcaacgacgtaggAGATCGAGACCCGACGC chr15:63712149-Variant-T;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Reference C atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc AATACCGGACCG CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAaataccggaccgAGATCGAGACCCGACGC chr15:63712149-Reference-C;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Variant T atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc AGAGGTGTCCGA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAagaggtgtccgaAGATCGAGACCCGACGC chr15:63712149-Variant-T;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative G atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc ACTAGGCTTGTT CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAactaggcttgttAGATCGAGACCCGACGC chr15:63712149-Alternative-G;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative A atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GCGATGCTGAAC CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgcgatgctgaacAGATCGAGACCCGACGC chr15:63712149-Alternative-A;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative A atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc AACTTCTCACCG CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAaacttctcaccgAGATCGAGACCCGACGC chr15:63712149-Alternative-A;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Reference C atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc CTCTATGCTACA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAActctatgctacaAGATCGAGACCCGACGC chr15:63712149-Reference-C;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Reference C atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc ATATGAGCGACC CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaCtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAatatgagcgaccAGATCGAGACCCGACGC chr15:63712149-Reference-C;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative A atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GATGCCTCTCGT CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgatgcctctcgtAGATCGAGACCCGACGC chr15:63712149-Alternative-A;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Variant T atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GACCGGCTAACA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgaccggctaacaAGATCGAGACCCGACGC chr15:63712149-Variant-T;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Variant T atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GGCAATACGGAA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAggcaatacggaaAGATCGAGACCCGACGC chr15:63712149-Variant-T;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Variant T atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GTTAGAGAGCAA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaTtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgttagagagcaaAGATCGAGACCCGACGC chr15:63712149-Variant-T;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative A atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc AGCACGATCAGT CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAagcacgatcagtAGATCGAGACCCGACGC chr15:63712149-Alternative-A;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative A atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GCGATCGATGAG CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaAtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgcgatcgatgagAGATCGAGACCCGACGC chr15:63712149-Alternative-A;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative G atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GTGGCGTACTGA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgtggcgtactgaAGATCGAGACCCGACGC chr15:63712149-Alternative-G;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative G atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc AACAGGATCACA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAaacaggatcacaAGATCGAGACCCGACGC chr15:63712149-Alternative-G;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative G atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GGTTACGGAATA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAggttacggaataAGATCGAGACCCGACGC chr15:63712149-Alternative-G;Patient-110 chr15:63712149-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.22 0.62 -0.28 USP3 84560 Alternative G atgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgacc GCAATGGCTATA CGACGCGGTCTCTCTCTatgggccacgggatctggcttctctagtggccgtccataggaggcaggaaGtccatctaaaaatatgagtgagttgaagccccgtgggtgaactttgaccAGAGGGAGACGGACGTCTCAATAAgcaatggctataAGATCGAGACCCGACGC chr15:63712149-Alternative-G;Patient-110 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Reference C cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GGTCAATAGGCG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAggtcaataggcgAGATCGAGACCCGACGC chr15:64655683-Reference-C;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative A cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca ACTGCATATCGA CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAactgcatatcgaAGATCGAGACCCGACGC chr15:64655683-Alternative-A;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative A cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CTTACGTTCTTC CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAActtacgttcttcAGATCGAGACCCGACGC chr15:64655683-Alternative-A;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Variant T cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CGAATCCGTGGT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAcgaatccgtggtAGATCGAGACCCGACGC chr15:64655683-Variant-T;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative A cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AATACGGTATGG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAaatacggtatggAGATCGAGACCCGACGC chr15:64655683-Alternative-A;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative A cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CGCCTACGAACT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAcgcctacgaactAGATCGAGACCCGACGC chr15:64655683-Alternative-A;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative A cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AGTTCGAGGACG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcAgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAagttcgaggacgAGATCGAGACCCGACGC chr15:64655683-Alternative-A;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Reference C cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CGCAGTTACGAT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAcgcagttacgatAGATCGAGACCCGACGC chr15:64655683-Reference-C;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Reference C cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GTCATCACTAGA CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAgtcatcactagaAGATCGAGACCCGACGC chr15:64655683-Reference-C;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative G cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AGAGGTGATCCT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAagaggtgatcctAGATCGAGACCCGACGC chr15:64655683-Alternative-G;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Reference C cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CTCTTCGCAGCA CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAActcttcgcagcaAGATCGAGACCCGACGC chr15:64655683-Reference-C;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative G cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GGACCTAACAGG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAggacctaacaggAGATCGAGACCCGACGC chr15:64655683-Alternative-G;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Reference C cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca CTTGAAGGTCGT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcCgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAActtgaaggtcgtAGATCGAGACCCGACGC chr15:64655683-Reference-C;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative G cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GTAGTCCGTGGT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAgtagtccgtggtAGATCGAGACCCGACGC chr15:64655683-Alternative-G;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative G cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GGCTAGGTAACG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAggctaggtaacgAGATCGAGACCCGACGC chr15:64655683-Alternative-G;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Variant T cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca GCCGTATTACGG CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAgccgtattacggAGATCGAGACCCGACGC chr15:64655683-Variant-T;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Alternative G cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AATCACGTCGGC CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcGgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAaatcacgtcggcAGATCGAGACCCGACGC chr15:64655683-Alternative-G;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Variant T cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AGAGGTGTAAGA CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAagaggtgtaagaAGATCGAGACCCGACGC chr15:64655683-Variant-T;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Variant T cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AGGCCGTAGGTT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAaggccgtaggttAGATCGAGACCCGACGC chr15:64655683-Variant-T;Patient-53 chr15:64655683-CT DeNovo Patient-53 intergenic 3.2e-05 0.000512821 -0.45 0.13 -0.86 CSNK1G1 7240 Variant T cttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaaca AAGCAGTGTGAT CGACGCGGTCTCTCTCTcttggccggctgcagtgactcacacctgtaatcccagcattttgggaggcTgacgcgggcagatcacgaggtcaggagatcaagatcatcctggctaacaAGAGGGAGACGGACGTCTCAATAAaagcagtgtgatAGATCGAGACCCGACGC chr15:64655683-Variant-T;Patient-53 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative A tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct AAGCAGTTGGAC CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAaagcagttggacAGATCGAGACCCGACGC chr15:65093569-Alternative-A;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Variant T tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct GACCATCGTGGT CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAgaccatcgtggtAGATCGAGACCCGACGC chr15:65093569-Variant-T;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative A tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CGTTCTCCTATT CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcgttctcctattAGATCGAGACCCGACGC chr15:65093569-Alternative-A;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Variant T tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct AGCGGATTCACA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAagcggattcacaAGATCGAGACCCGACGC chr15:65093569-Variant-T;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative G tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct GGCGAATTGTTA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAggcgaattgttaAGATCGAGACCCGACGC chr15:65093569-Alternative-G;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative A tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct AGTGTCTGTCGC CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAagtgtctgtcgcAGATCGAGACCCGACGC chr15:65093569-Alternative-A;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative G tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct GAATGTGTTAGG CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAgaatgtgttaggAGATCGAGACCCGACGC chr15:65093569-Alternative-G;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative G tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CATTCAGACGAT CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcattcagacgatAGATCGAGACCCGACGC chr15:65093569-Alternative-G;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative G tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct ACTATCACGGCA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAactatcacggcaAGATCGAGACCCGACGC chr15:65093569-Alternative-G;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Variant T tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct GCGAGAGTAACA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAgcgagagtaacaAGATCGAGACCCGACGC chr15:65093569-Variant-T;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Reference C tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct AACAGCAACTGA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAaacagcaactgaAGATCGAGACCCGACGC chr15:65093569-Reference-C;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Variant T tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct GACGAGTAGATT CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAgacgagtagattAGATCGAGACCCGACGC chr15:65093569-Variant-T;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative A tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CGTGGAACGTGA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcgtggaacgtgaAGATCGAGACCCGACGC chr15:65093569-Alternative-A;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative G tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CGCGACGATGAA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaGgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcgcgacgatgaaAGATCGAGACCCGACGC chr15:65093569-Alternative-G;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Variant T tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CAACGAGGATCG CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaTgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcaacgaggatcgAGATCGAGACCCGACGC chr15:65093569-Variant-T;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Reference C tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CATCAGTAACGG CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAcatcagtaacggAGATCGAGACCCGACGC chr15:65093569-Reference-C;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Alternative A tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CTTAGTGCAACA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaAgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAActtagtgcaacaAGATCGAGACCCGACGC chr15:65093569-Alternative-A;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Reference C tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct CTATACGCACCG CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAActatacgcaccgAGATCGAGACCCGACGC chr15:65093569-Reference-C;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Reference C tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct AACACAACCAGA CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAaacacaaccagaAGATCGAGACCCGACGC chr15:65093569-Reference-C;Patient-49 chr15:65093569-CT DeNovo Patient-49 intergenic NA 0.000512821 0.29 7.05 -0.59 PIF1 24268 Reference C tctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgct ATCGTACGTACG CGACGCGGTCTCTCTCTtctcctgcctcagcctctagagtagctgggactacaggcgcccgccaccaCgcccggctaattttttgtatttttagtagtgatggggtttcactgtgctAGAGGGAGACGGACGTCTCAATAAatcgtacgtacgAGATCGAGACCCGACGC chr15:65093569-Reference-C;Patient-49 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative C acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagt AACCGAGAACGC CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAaaccgagaacgcAGATCGAGACCCGACGC chr15:65120660-Alternative-C;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative C acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GAGCATATGGAG CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgagcatatggagAGATCGAGACCCGACGC chr15:65120660-Alternative-C;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative C acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GATCCTTGTCTA CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgatccttgtctaAGATCGAGACCCGACGC chr15:65120660-Alternative-C;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative C acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagt CGCCTCGTTCAA CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAcgcctcgttcaaAGATCGAGACCCGACGC chr15:65120660-Alternative-C;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Variant A acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagt AGTCAACGTCTA CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAagtcaacgtctaAGATCGAGACCCGACGC chr15:65120660-Variant-A;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Variant A acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagt CGGATAGACTTA CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAcggatagacttaAGATCGAGACCCGACGC chr15:65120660-Variant-A;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Variant A acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagt AATAATCGTCGG CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAaataatcgtcggAGATCGAGACCCGACGC chr15:65120660-Variant-A;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative C acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagt ACACATACCGCA CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgCgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAacacataccgcaAGATCGAGACCCGACGC chr15:65120660-Alternative-C;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Variant A acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagt CGTCTATCCGGT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAcgtctatccggtAGATCGAGACCCGACGC chr15:65120660-Variant-A;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative G acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagt ACGTCGGACCAT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAacgtcggaccatAGATCGAGACCCGACGC chr15:65120660-Alternative-G;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Variant A acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GTAAGCGCACCT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgAgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgtaagcgcacctAGATCGAGACCCGACGC chr15:65120660-Variant-A;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative G acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GATATGGCGACT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgatatggcgactAGATCGAGACCCGACGC chr15:65120660-Alternative-G;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative G acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GACGGCATAACT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgacggcataactAGATCGAGACCCGACGC chr15:65120660-Alternative-G;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Reference T acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagt CAACAACCGTGT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAcaacaaccgtgtAGATCGAGACCCGACGC chr15:65120660-Reference-T;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative G acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagt AACGAGCTACGC CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAaacgagctacgcAGATCGAGACCCGACGC chr15:65120660-Alternative-G;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Alternative G acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagt CATCTTCGAACT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgGgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAcatcttcgaactAGATCGAGACCCGACGC chr15:65120660-Alternative-G;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Reference T acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GGACATTGTACT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAggacattgtactAGATCGAGACCCGACGC chr15:65120660-Reference-T;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Reference T acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagt AATCTGCCAAGT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAaatctgccaagtAGATCGAGACCCGACGC chr15:65120660-Reference-T;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Reference T acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagt GAGTATCACGTT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAgagtatcacgttAGATCGAGACCCGACGC chr15:65120660-Reference-T;Patient-77 chr15:65120660-TA DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PIF1 2821 Reference T acattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagt ATAGTCCGGTAT CGACGCGGTCTCTCTCTacattgtgatctgcccgcctcggcctcccaaagtgatgggattacaggtgTgagccactgtgcccagccgggttttccttttaatttaattctaggaagtAGAGGGAGACGGACGTCTCAATAAatagtccggtatAGATCGAGACCCGACGC chr15:65120660-Reference-T;Patient-77 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative G ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CAGCGACCAACT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAcagcgaccaactAGATCGAGACCCGACGC chr15:65477595-Alternative-G;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Reference C ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttca GACCGGATGCTA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAgaccggatgctaAGATCGAGACCCGACGC chr15:65477595-Reference-C;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative G ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttca GAATTGTGCAGT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAgaattgtgcagtAGATCGAGACCCGACGC chr15:65477595-Alternative-G;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Reference C ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACTTAGTACGAC CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAacttagtacgacAGATCGAGACCCGACGC chr15:65477595-Reference-C;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Reference C ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACAAGTTGACGA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAacaagttgacgaAGATCGAGACCCGACGC chr15:65477595-Reference-C;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Reference C ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CGCGTAACTTAT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAcgcgtaacttatAGATCGAGACCCGACGC chr15:65477595-Reference-C;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Reference C ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACAATGTCTACG CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgCgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAacaatgtctacgAGATCGAGACCCGACGC chr15:65477595-Reference-C;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Variant T ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttca AACGCGAAGGAC CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAaacgcgaaggacAGATCGAGACCCGACGC chr15:65477595-Variant-T;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Variant T ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CAGTTGTTAGCA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAcagttgttagcaAGATCGAGACCCGACGC chr15:65477595-Variant-T;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Variant T ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACTAGCGAGGAC CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAactagcgaggacAGATCGAGACCCGACGC chr15:65477595-Variant-T;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative A ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACGTGTGGTCGT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAacgtgtggtcgtAGATCGAGACCCGACGC chr15:65477595-Alternative-A;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative A ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CATCACGTAGCA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAcatcacgtagcaAGATCGAGACCCGACGC chr15:65477595-Alternative-A;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative G ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACCATGTCATGA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAaccatgtcatgaAGATCGAGACCCGACGC chr15:65477595-Alternative-G;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Variant T ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACCGACTTAGAT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAaccgacttagatAGATCGAGACCCGACGC chr15:65477595-Variant-T;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative A ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttca AACAGGAGATGT CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAaacaggagatgtAGATCGAGACCCGACGC chr15:65477595-Alternative-A;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Variant T ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttca GGTACGTCGTCA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgTgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAggtacgtcgtcaAGATCGAGACCCGACGC chr15:65477595-Variant-T;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative A ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttca ACTCACCGATCG CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAactcaccgatcgAGATCGAGACCCGACGC chr15:65477595-Alternative-A;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative G ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttca AGGTTATCAAGG CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAaggttatcaaggAGATCGAGACCCGACGC chr15:65477595-Alternative-G;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative A ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CTATAAGTACGG CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgAgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAActataagtacggAGATCGAGACCCGACGC chr15:65477595-Alternative-A;Patient-26 chr15:65477595-CT DeNovo Patient-26 intergenic NA 4.95e-05 0.58 10.09 -0.57 CLPX 31 Alternative G ggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttca CGAACGTTCCGA CGACGCGGTCTCTCTCTggcgtgaatcctgcccgcaaggcgcgctgactcggttccgaaccctttcgGgggccctagaccccgtggagagttcacctgcccggcagccaggccttcaAGAGGGAGACGGACGTCTCAATAAcgaacgttccgaAGATCGAGACCCGACGC chr15:65477595-Alternative-G;Patient-26 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative A gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt CGTCGATTGGAA CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAcgtcgattggaaAGATCGAGACCCGACGC chr15:66609386-Alternative-A;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative A gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt AGGCTAGCACCT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAaggctagcacctAGATCGAGACCCGACGC chr15:66609386-Alternative-A;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative A gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt CGCATTCGTAAG CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAcgcattcgtaagAGATCGAGACCCGACGC chr15:66609386-Alternative-A;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Variant G gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GCCGTATCCGAT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgccgtatccgatAGATCGAGACCCGACGC chr15:66609386-Variant-G;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative A gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt ACGACATGTCGG CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAacgacatgtcggAGATCGAGACCCGACGC chr15:66609386-Alternative-A;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Variant G gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GTTATGCTATGG CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgttatgctatggAGATCGAGACCCGACGC chr15:66609386-Variant-G;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative A gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt AATCGCTTGGAT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccAcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAaatcgcttggatAGATCGAGACCCGACGC chr15:66609386-Alternative-A;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Variant G gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GTCTATTGCGAT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgtctattgcgatAGATCGAGACCCGACGC chr15:66609386-Variant-G;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Variant G gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GGTGTTGCTACG CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAggtgttgctacgAGATCGAGACCCGACGC chr15:66609386-Variant-G;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative C gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt ACGGTCGTGCTA CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAacggtcgtgctaAGATCGAGACCCGACGC chr15:66609386-Alternative-C;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Reference T gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt CGCTCGTGTACA CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAcgctcgtgtacaAGATCGAGACCCGACGC chr15:66609386-Reference-T;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Reference T gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt CATGTCGTGCGA CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAcatgtcgtgcgaAGATCGAGACCCGACGC chr15:66609386-Reference-T;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Reference T gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GCAGGTGTAACT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgcaggtgtaactAGATCGAGACCCGACGC chr15:66609386-Reference-T;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative C gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt AACTTGACCGGT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAaacttgaccggtAGATCGAGACCCGACGC chr15:66609386-Alternative-C;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Reference T gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GTTGGCGTGGTT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgttggcgtggttAGATCGAGACCCGACGC chr15:66609386-Reference-T;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Variant G gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GACCTTGCGTGT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccGcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgaccttgcgtgtAGATCGAGACCCGACGC chr15:66609386-Variant-G;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative C gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GCGAAGGAGGTT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgcgaaggaggttAGATCGAGACCCGACGC chr15:66609386-Alternative-C;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Reference T gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt GCGATAGTATGA CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccTcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAgcgatagtatgaAGATCGAGACCCGACGC chr15:66609386-Reference-T;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative C gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt AGGCGATACGGT CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAaggcgatacggtAGATCGAGACCCGACGC chr15:66609386-Alternative-C;Patient-86 chr15:66609386-TG DeNovo Patient-86 intronic DIS3L 0.000638 0.000198 0.21 6 1.44 DIS3L 23752 Alternative C gtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcacttt ACGATCCTGACG CGACGCGGTCTCTCTCTgtgacaacttgttctttccaccacctggatgaagctttccccaaatatccCcacatctgttttcctcacttccctcaagtcactgttcaaatgtcactttAGAGGGAGACGGACGTCTCAATAAacgatcctgacgAGATCGAGACCCGACGC chr15:66609386-Alternative-C;Patient-86 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative A cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GAATCGTTGTTC CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAgaatcgttgttcAGATCGAGACCCGACGC chr15:67007247-Alternative-A;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Variant T cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg CAATGCGCCGTT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAcaatgcgccgttAGATCGAGACCCGACGC chr15:67007247-Variant-T;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative A cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg CGGCGTCATCTT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAcggcgtcatcttAGATCGAGACCCGACGC chr15:67007247-Alternative-A;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative A cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg ATCCTACACGCG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAatcctacacgcgAGATCGAGACCCGACGC chr15:67007247-Alternative-A;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative A cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GTTATGCCTGTT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAgttatgcctgttAGATCGAGACCCGACGC chr15:67007247-Alternative-A;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative A cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AGCGTATACCAC CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactAggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAagcgtataccacAGATCGAGACCCGACGC chr15:67007247-Alternative-A;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Variant T cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GTATCGACCACG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAgtatcgaccacgAGATCGAGACCCGACGC chr15:67007247-Variant-T;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Reference C cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AATCGTGGAGCG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAaatcgtggagcgAGATCGAGACCCGACGC chr15:67007247-Reference-C;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Reference C cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GGTTACGATACT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAggttacgatactAGATCGAGACCCGACGC chr15:67007247-Reference-C;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Reference C cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg ACTAGCCTAAGT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAactagcctaagtAGATCGAGACCCGACGC chr15:67007247-Reference-C;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Variant T cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AGTATCCGTCAA CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAagtatccgtcaaAGATCGAGACCCGACGC chr15:67007247-Variant-T;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Reference C cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GGTAGATAAGTC CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAggtagataagtcAGATCGAGACCCGACGC chr15:67007247-Reference-C;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Reference C cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AACGGTACAAGG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactCggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAaacggtacaaggAGATCGAGACCCGACGC chr15:67007247-Reference-C;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Variant T cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg ACTCTCTCTCGG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAactctctctcggAGATCGAGACCCGACGC chr15:67007247-Variant-T;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative G cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AAGGTAGCCGGT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAaaggtagccggtAGATCGAGACCCGACGC chr15:67007247-Alternative-G;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Variant T cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AGTAGGTGTACA CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactTggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAagtaggtgtacaAGATCGAGACCCGACGC chr15:67007247-Variant-T;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative G cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg CTTGACGATTCT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAActtgacgattctAGATCGAGACCCGACGC chr15:67007247-Alternative-G;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative G cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg ACTAACTGAAGG CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAactaactgaaggAGATCGAGACCCGACGC chr15:67007247-Alternative-G;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative G cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg AAGACGGAGTGT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAaagacggagtgtAGATCGAGACCCGACGC chr15:67007247-Alternative-G;Patient-72 chr15:67007247-CT DeNovo Patient-72 intronic SMAD6 3.2e-05 0.000148471 -0.27 0.44 -6.89 SMAD6 12572 Alternative G cacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctggg GCGCATTGGTGT CGACGCGGTCTCTCTCTcacaatgctgtctgtgttggctgtaaggcagttcactaagaaataggactGggcttgtgatgttgctacttcagatgagaagtggcagcagggctctgggAGAGGGAGACGGACGTCTCAATAAgcgcattggtgtAGATCGAGACCCGACGC chr15:67007247-Alternative-G;Patient-72 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Reference G ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc GCGTGAACAGCA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAgcgtgaacagcaAGATCGAGACCCGACGC chr15:67015918-Reference-G;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Reference G ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc AGACGGACTAAT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAagacggactaatAGATCGAGACCCGACGC chr15:67015918-Reference-G;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Reference G ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CGAACGGCATGA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAcgaacggcatgaAGATCGAGACCCGACGC chr15:67015918-Reference-G;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Reference G ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CGGCATACTCGA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAcggcatactcgaAGATCGAGACCCGACGC chr15:67015918-Reference-G;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative T ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CTAGAACATGCT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAActagaacatgctAGATCGAGACCCGACGC chr15:67015918-Alternative-T;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative T ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CTAATCACGTGA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAActaatcacgtgaAGATCGAGACCCGACGC chr15:67015918-Alternative-T;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative T ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CTGGCATGCCAT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAActggcatgccatAGATCGAGACCCGACGC chr15:67015918-Alternative-T;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Reference G ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc GTTATGCAACGT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaGgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAgttatgcaacgtAGATCGAGACCCGACGC chr15:67015918-Reference-G;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative C ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc ACCTTGAAGCGG CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAaccttgaagcggAGATCGAGACCCGACGC chr15:67015918-Alternative-C;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative C ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc ACGTTCGAAGTT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAacgttcgaagttAGATCGAGACCCGACGC chr15:67015918-Alternative-C;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Variant A ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc GCCGTCACAGAA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAgccgtcacagaaAGATCGAGACCCGACGC chr15:67015918-Variant-A;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative C ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CGTCAAGTGCGA CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAcgtcaagtgcgaAGATCGAGACCCGACGC chr15:67015918-Alternative-C;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative T ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc GGCTGCCGTAAT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAggctgccgtaatAGATCGAGACCCGACGC chr15:67015918-Alternative-T;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Variant A ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc GTAAGTTACCGT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAgtaagttaccgtAGATCGAGACCCGACGC chr15:67015918-Variant-A;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative C ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CAGTTCCGTACC CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAcagttccgtaccAGATCGAGACCCGACGC chr15:67015918-Alternative-C;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative T ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc AGGTGGACACAC CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaTgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAaggtggacacacAGATCGAGACCCGACGC chr15:67015918-Alternative-T;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Alternative C ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc AATGGTTCATGC CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaCgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAaatggttcatgcAGATCGAGACCCGACGC chr15:67015918-Alternative-C;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Variant A ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc CGCTTACGAATT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAcgcttacgaattAGATCGAGACCCGACGC chr15:67015918-Variant-A;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Variant A ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc AAGACCTAACGT CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAaagacctaacgtAGATCGAGACCCGACGC chr15:67015918-Variant-A;Patient-58 chr15:67015918-GA DeNovo Patient-58 intronic SMAD6 NA 9.9e-05 -0.07 1.67 0.43 SMAD6 21243 Variant A ttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcacc AATGACGCGCAG CGACGCGGTCTCTCTCTttggctggccatggtggcacacacctgtagtcccagccactgaggtaggaAgatcacttgagctcaggagttggaggctatagtgagctgtgatcgcaccAGAGGGAGACGGACGTCTCAATAAaatgacgcgcagAGATCGAGACCCGACGC chr15:67015918-Variant-A;Patient-58 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Reference A tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat AGCGCTACGCTT CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAagcgctacgcttAGATCGAGACCCGACGC chr15:68550412-Reference-A;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative C tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat GCGGAATTAAGA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAgcggaattaagaAGATCGAGACCCGACGC chr15:68550412-Alternative-C;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Variant G tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat AGGTGTCCATCG CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAaggtgtccatcgAGATCGAGACCCGACGC chr15:68550412-Variant-G;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative C tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGTGTTCGATAA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcgtgttcgataaAGATCGAGACCCGACGC chr15:68550412-Alternative-C;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Reference A tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat ACGGTATCGTCG CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAacggtatcgtcgAGATCGAGACCCGACGC chr15:68550412-Reference-A;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative C tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CAGTTATTCGAG CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcagttattcgagAGATCGAGACCCGACGC chr15:68550412-Alternative-C;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Reference A tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGAGCAGGTATT CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcgagcaggtattAGATCGAGACCCGACGC chr15:68550412-Reference-A;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative T tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGGCGACTCTTA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcggcgactcttaAGATCGAGACCCGACGC chr15:68550412-Alternative-T;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative C tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat GGTGTTGTCTAA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAggtgttgtctaaAGATCGAGACCCGACGC chr15:68550412-Alternative-C;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Variant G tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGTACATACGCG CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcgtacatacgcgAGATCGAGACCCGACGC chr15:68550412-Variant-G;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Reference A tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CTAGATTAGCCA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAActagattagccaAGATCGAGACCCGACGC chr15:68550412-Reference-A;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Variant G tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat AGACCTCAACAT CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAagacctcaacatAGATCGAGACCCGACGC chr15:68550412-Variant-G;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Reference A tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat ATATGTCATCGC CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatAtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAatatgtcatcgcAGATCGAGACCCGACGC chr15:68550412-Reference-A;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative T tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGTGCAAGAATA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcgtgcaagaataAGATCGAGACCCGACGC chr15:68550412-Alternative-T;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative T tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat AAGCAGTTAACC CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAaagcagttaaccAGATCGAGACCCGACGC chr15:68550412-Alternative-T;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Variant G tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CGGATGGCATGA CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcggatggcatgaAGATCGAGACCCGACGC chr15:68550412-Variant-G;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative C tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat GCGTAATCCGAC CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatCtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAgcgtaatccgacAGATCGAGACCCGACGC chr15:68550412-Alternative-C;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative T tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat GGTTATTCGTTC CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAggttattcgttcAGATCGAGACCCGACGC chr15:68550412-Alternative-T;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Variant G tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat ACTCCTTGTAAC CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatGtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAactccttgtaacAGATCGAGACCCGACGC chr15:68550412-Variant-G;Patient-15 chr15:68550412-AG DeNovo Patient-15 intergenic 0.000501 0.00151 0.05 3.51 0 CLN6 28331 Alternative T tgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatat CAAGACGCGATT CGACGCGGTCTCTCTCTtgatatatatgagatgtatatatgatatatatgagatgtgtatatatgatTtatatatgagatgtatatatgatatatatgagatgtgtatatatgatatAGAGGGAGACGGACGTCTCAATAAcaagacgcgattAGATCGAGACCCGACGC chr15:68550412-Alternative-T;Patient-15 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Variant A caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GGATACTCTACG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAggatactctacgAGATCGAGACCCGACGC chr15:68819372-Variant-A;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative T caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct ACGAGCATCCGT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAacgagcatccgtAGATCGAGACCCGACGC chr15:68819372-Alternative-T;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Variant A caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct AAGGTAGATTCG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAaaggtagattcgAGATCGAGACCCGACGC chr15:68819372-Variant-A;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Variant A caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GGATAATGGCGA CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAggataatggcgaAGATCGAGACCCGACGC chr15:68819372-Variant-A;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Variant A caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GTACTACGGTCG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAgtactacggtcgAGATCGAGACCCGACGC chr15:68819372-Variant-A;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative C caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GGACGTTGAACG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAggacgttgaacgAGATCGAGACCCGACGC chr15:68819372-Alternative-C;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative C caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CTGCGCTCATAC CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAActgcgctcatacAGATCGAGACCCGACGC chr15:68819372-Alternative-C;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative C caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CGCGGTTGCTAA CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAcgcggttgctaaAGATCGAGACCCGACGC chr15:68819372-Alternative-C;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative C caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct ACCTTGCGGTGT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAaccttgcggtgtAGATCGAGACCCGACGC chr15:68819372-Alternative-C;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative C caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GTGACGGCTCTA CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtCggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAgtgacggctctaAGATCGAGACCCGACGC chr15:68819372-Alternative-C;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative T caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct ACAATAACAGCG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAacaataacagcgAGATCGAGACCCGACGC chr15:68819372-Alternative-T;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative T caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CACACAACGACT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAcacacaacgactAGATCGAGACCCGACGC chr15:68819372-Alternative-T;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Variant A caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct AACGTTGTTGGT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtAggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAaacgttgttggtAGATCGAGACCCGACGC chr15:68819372-Variant-A;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative T caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GCGACATCTACC CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAgcgacatctaccAGATCGAGACCCGACGC chr15:68819372-Alternative-T;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Alternative T caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GTTCGCGCATGT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtTggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAgttcgcgcatgtAGATCGAGACCCGACGC chr15:68819372-Alternative-T;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Reference G caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GGCTCTATCAGG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAggctctatcaggAGATCGAGACCCGACGC chr15:68819372-Reference-G;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Reference G caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct GTCAATCGGCAG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAgtcaatcggcagAGATCGAGACCCGACGC chr15:68819372-Reference-G;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Reference G caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CAGCTAGCTAGG CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAcagctagctaggAGATCGAGACCCGACGC chr15:68819372-Reference-G;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Reference G caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CACATAATGCGA CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAcacataatgcgaAGATCGAGACCCGACGC chr15:68819372-Reference-G;Patient-79 chr15:68819372-GA DeNovo Patient-79 intergenic NA 0.000512821 0.12 4.64 0.98 CORO2B 51935 Reference G caaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcct CGTGCAGATTAT CGACGCGGTCTCTCTCTcaaaaagaggaagagacaccagagaggtgtgtgcagagagaaaaggccgtGggaggacacagtgagaaggcatctgtttgaaaaccaaagacagaggcctAGAGGGAGACGGACGTCTCAATAAcgtgcagattatAGATCGAGACCCGACGC chr15:68819372-Reference-G;Patient-79 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Variant C gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CGCCTAAGACCA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAcgcctaagaccaAGATCGAGACCCGACGC chr15:70341493-Variant-C;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Variant C gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CGCAGTACCTAC CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAcgcagtacctacAGATCGAGACCCGACGC chr15:70341493-Variant-C;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Reference T gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GGTGTAGTCGCT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAggtgtagtcgctAGATCGAGACCCGACGC chr15:70341493-Reference-T;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Reference T gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg ACTGCGACGAGT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAactgcgacgagtAGATCGAGACCCGACGC chr15:70341493-Reference-T;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Variant C gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg AACGCGAGAGAT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAaacgcgagagatAGATCGAGACCCGACGC chr15:70341493-Variant-C;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative G gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CGGAGCGTTAGT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAcggagcgttagtAGATCGAGACCCGACGC chr15:70341493-Alternative-G;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative G gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GGCTCACTGGAT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAggctcactggatAGATCGAGACCCGACGC chr15:70341493-Alternative-G;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative G gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GAGTATCTCACA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAgagtatctcacaAGATCGAGACCCGACGC chr15:70341493-Alternative-G;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Reference T gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GTATTAGGCTGT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAgtattaggctgtAGATCGAGACCCGACGC chr15:70341493-Reference-T;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Variant C gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg ACCTACGACGCA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAacctacgacgcaAGATCGAGACCCGACGC chr15:70341493-Variant-C;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Reference T gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GGCTCAACGTCA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAggctcaacgtcaAGATCGAGACCCGACGC chr15:70341493-Reference-T;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Variant C gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg AGTGGCGTTCGA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatCgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAagtggcgttcgaAGATCGAGACCCGACGC chr15:70341493-Variant-C;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative A gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CTACGGCAACTA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAActacggcaactaAGATCGAGACCCGACGC chr15:70341493-Alternative-A;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative A gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GGTCAGCTGTCA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAggtcagctgtcaAGATCGAGACCCGACGC chr15:70341493-Alternative-A;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Reference T gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GCCTGGATACAC CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatTgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAgcctggatacacAGATCGAGACCCGACGC chr15:70341493-Reference-T;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative A gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CTAATACGCGAA CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAActaatacgcgaaAGATCGAGACCCGACGC chr15:70341493-Alternative-A;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative G gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg AGTGACGCTTCG CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAagtgacgcttcgAGATCGAGACCCGACGC chr15:70341493-Alternative-G;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative A gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CATTCGCGGTTC CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAcattcgcggttcAGATCGAGACCCGACGC chr15:70341493-Alternative-A;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative A gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg GCATTGCGATCG CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatAgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAgcattgcgatcgAGATCGAGACCCGACGC chr15:70341493-Alternative-A;Patient-32 chr15:70341493-TC DeNovo Patient-32 3 prime UTR TLE3 3.2e-05 0.000159744 -0.04 2.05 -3.88 TLE3 48762 Alternative G gtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgagg CGTATGCGGAGT CGACGCGGTCTCTCTCTgtgtcccaagattcagaagagctggagagggagttcctttgaacttccatGgctcacaacaataactaagtgtgcaccaaagagaaagaccaggctgaggAGAGGGAGACGGACGTCTCAATAAcgtatgcggagtAGATCGAGACCCGACGC chr15:70341493-Alternative-G;Patient-32 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative C cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GATTCTGTTGTC CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgattctgttgtcAGATCGAGACCCGACGC chr15:70456970-Alternative-C;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative C cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GAGTTAGGCATT CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgagttaggcattAGATCGAGACCCGACGC chr15:70456970-Alternative-C;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative T cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GCGGAAGTGAAC CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgcggaagtgaacAGATCGAGACCCGACGC chr15:70456970-Alternative-T;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative C cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg CATGACCGATAT CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAcatgaccgatatAGATCGAGACCCGACGC chr15:70456970-Alternative-C;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Reference G cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg AACGCAACGTGG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAaacgcaacgtggAGATCGAGACCCGACGC chr15:70456970-Reference-G;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative T cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg CATGCTAAGACT CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAcatgctaagactAGATCGAGACCCGACGC chr15:70456970-Alternative-T;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative C cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GATACACCATGG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgatacaccatggAGATCGAGACCCGACGC chr15:70456970-Alternative-C;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative C cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg ATCGCTGCGAAG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaCggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAatcgctgcgaagAGATCGAGACCCGACGC chr15:70456970-Alternative-C;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Reference G cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg AGTGCGGTTGAC CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAagtgcggttgacAGATCGAGACCCGACGC chr15:70456970-Reference-G;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Variant A cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GTCGATGCAACT CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgtcgatgcaactAGATCGAGACCCGACGC chr15:70456970-Variant-A;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Reference G cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GGAGGTACAAGG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAggaggtacaaggAGATCGAGACCCGACGC chr15:70456970-Reference-G;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Variant A cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GGTAGTCGCAAG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAggtagtcgcaagAGATCGAGACCCGACGC chr15:70456970-Variant-A;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Reference G cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GACGTCTGAAGG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgacgtctgaaggAGATCGAGACCCGACGC chr15:70456970-Reference-G;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Variant A cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GTGACGACACGA CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgtgacgacacgaAGATCGAGACCCGACGC chr15:70456970-Variant-A;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative T cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GCGAACAGATTA CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgcgaacagattaAGATCGAGACCCGACGC chr15:70456970-Alternative-T;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative T cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg CTGAATCCTATC CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAActgaatcctatcAGATCGAGACCCGACGC chr15:70456970-Alternative-T;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Alternative T cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GAGTTGCGGAAC CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaTggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgagttgcggaacAGATCGAGACCCGACGC chr15:70456970-Alternative-T;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Reference G cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GCCAGGATAACG CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaGggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgccaggataacgAGATCGAGACCCGACGC chr15:70456970-Reference-G;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Variant A cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg CAATAAGCGTGA CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAcaataagcgtgaAGATCGAGACCCGACGC chr15:70456970-Variant-A;Patient-1 chr15:70456970-GA DeNovo Patient-1 intergenic NA 0.000513 -0.06 1.79 -0.28 TLE3 66713 Variant A cctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttg GATTCTAGCTGA CGACGCGGTCTCTCTCTcctctcaccctccaataagatagacaagcagccttggggcagcatcccaaAggcaagagcagaagctgtcaggcctttggggcccaggctgctgaacttgAGAGGGAGACGGACGTCTCAATAAgattctagctgaAGATCGAGACCCGACGC chr15:70456970-Variant-A;Patient-1 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative G tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata AACCGTCGATGC CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAaaccgtcgatgcAGATCGAGACCCGACGC chr15:73414957-Alternative-G;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative G tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GGACGATGTCGA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAggacgatgtcgaAGATCGAGACCCGACGC chr15:73414957-Alternative-G;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative G tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata AACTACCAGACT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAaactaccagactAGATCGAGACCCGACGC chr15:73414957-Alternative-G;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Variant T tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata ATCTAGCGACGG CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAatctagcgacggAGATCGAGACCCGACGC chr15:73414957-Variant-T;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Variant T tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata ATCACGGCTTAA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAatcacggcttaaAGATCGAGACCCGACGC chr15:73414957-Variant-T;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Variant T tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata CTACGTGCACCT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAActacgtgcacctAGATCGAGACCCGACGC chr15:73414957-Variant-T;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative G tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata CGATCAAGGCCA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAcgatcaaggccaAGATCGAGACCCGACGC chr15:73414957-Alternative-G;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Variant T tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata CGCGCGTATTGT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAcgcgcgtattgtAGATCGAGACCCGACGC chr15:73414957-Variant-T;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative G tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GAGTACGGCCAA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtGccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgagtacggccaaAGATCGAGACCCGACGC chr15:73414957-Alternative-G;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Variant T tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GACGTCTGTTAT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtTccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgacgtctgttatAGATCGAGACCCGACGC chr15:73414957-Variant-T;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative A tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata AGAGCAAGAGTT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAagagcaagagttAGATCGAGACCCGACGC chr15:73414957-Alternative-A;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative A tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata AGTGCGCAATAA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAagtgcgcaataaAGATCGAGACCCGACGC chr15:73414957-Alternative-A;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Reference C tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GACGAGATTAGT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgacgagattagtAGATCGAGACCCGACGC chr15:73414957-Reference-C;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative A tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GTAGATACGTGC CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgtagatacgtgcAGATCGAGACCCGACGC chr15:73414957-Alternative-A;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Reference C tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GACGGTACTGCT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgacggtactgctAGATCGAGACCCGACGC chr15:73414957-Reference-C;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative A tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata CAAGCTGGAACA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAcaagctggaacaAGATCGAGACCCGACGC chr15:73414957-Alternative-A;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Alternative A tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata GACTACCATCAG CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtAccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAgactaccatcagAGATCGAGACCCGACGC chr15:73414957-Alternative-A;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Reference C tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata ACATAGCGTCAT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAacatagcgtcatAGATCGAGACCCGACGC chr15:73414957-Reference-C;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Reference C tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata ATTGTTGGCAGT CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAattgttggcagtAGATCGAGACCCGACGC chr15:73414957-Reference-C;Patient-25 chr15:73414957-CT DeNovo Patient-25 synonymous NEO1 NA 4.93e-05 0.57 9.97 1.31 NEO1 70131 Reference C tatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgata CAACAAGAGTCA CGACGCGGTCTCTCTCTtatgctgggaacaatgcaattctgaattgtgaagttaatgcagatttggtCccatttgtgaggtgggaacagaacagacaaccccttcttctggatgataAGAGGGAGACGGACGTCTCAATAAcaacaagagtcaAGATCGAGACCCGACGC chr15:73414957-Reference-C;Patient-25 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative T aaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AGGTTGGTAGAT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAaggttggtagatAGATCGAGACCCGACGC chr15:73432568-Alternative-T;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Reference A aaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc ACGTTGTGTCTT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAacgttgtgtcttAGATCGAGACCCGACGC chr15:73432568-Reference-A;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Reference A aaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GTTGATCTAACG CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgttgatctaacgAGATCGAGACCCGACGC chr15:73432568-Reference-A;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Reference A aaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc ACGATACAACGA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAacgatacaacgaAGATCGAGACCCGACGC chr15:73432568-Reference-A;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative T aaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AATCTGGTATGG CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAaatctggtatggAGATCGAGACCCGACGC chr15:73432568-Alternative-T;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Reference A aaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc ATCAACGCGGAC CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAatcaacgcggacAGATCGAGACCCGACGC chr15:73432568-Reference-A;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative C aaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AACTAGGCTCTT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAaactaggctcttAGATCGAGACCCGACGC chr15:73432568-Alternative-C;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Reference A aaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AGGAATACGGAA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaAtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAaggaatacggaaAGATCGAGACCCGACGC chr15:73432568-Reference-A;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Variant G aaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GTTAAGACGCTT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgttaagacgcttAGATCGAGACCCGACGC chr15:73432568-Variant-G;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative T aaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GCAACTGCATTA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgcaactgcattaAGATCGAGACCCGACGC chr15:73432568-Alternative-T;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative C aaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc CGCCGAACACAT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAcgccgaacacatAGATCGAGACCCGACGC chr15:73432568-Alternative-C;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative T aaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GCGGCATCAATT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgcggcatcaattAGATCGAGACCCGACGC chr15:73432568-Alternative-T;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative T aaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GTGCTCTAACGG CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaTtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgtgctctaacggAGATCGAGACCCGACGC chr15:73432568-Alternative-T;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Variant G aaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc CGCTTAGGCGAA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAcgcttaggcgaaAGATCGAGACCCGACGC chr15:73432568-Variant-G;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative C aaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc CAGACGAGATGT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAcagacgagatgtAGATCGAGACCCGACGC chr15:73432568-Alternative-C;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative C aaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc ACACCAATGAGA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAacaccaatgagaAGATCGAGACCCGACGC chr15:73432568-Alternative-C;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Alternative C aaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AACACAGCATGA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaCtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAaacacagcatgaAGATCGAGACCCGACGC chr15:73432568-Alternative-C;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Variant G aaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc AGCGTCTGAGCA CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAagcgtctgagcaAGATCGAGACCCGACGC chr15:73432568-Variant-G;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Variant G aaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GCGTAACCGGAT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgcgtaaccggatAGATCGAGACCCGACGC chr15:73432568-Variant-G;Patient-82 chr15:73432568-AG DeNovo Patient-82 intronic NEO1 NA 4.95e-05 0.04 3.23 0.38 NEO1 87742 Variant G aaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggc GTTCCGACGTCT CGACGCGGTCTCTCTCTaaaccactggggactctaatgtactgttgacaggagtatacactgacacaGtcactttaaaattctgcttggcagaatctattaaaaactgtacactggcAGAGGGAGACGGACGTCTCAATAAgttccgacgtctAGATCGAGACCCGACGC chr15:73432568-Variant-G;Patient-82 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative C ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcct AGTAACGACAGT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAagtaacgacagtAGATCGAGACCCGACGC chr15:73698329-Alternative-C;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Reference A ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcct AGGCTCAACGCT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAaggctcaacgctAGATCGAGACCCGACGC chr15:73698329-Reference-A;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative T ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcct CGCGTGGTAGAA CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAcgcgtggtagaaAGATCGAGACCCGACGC chr15:73698329-Alternative-T;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative C ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcct ACCATGCGCAAG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAaccatgcgcaagAGATCGAGACCCGACGC chr15:73698329-Alternative-C;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Reference A ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcct GTTACCGTCGAG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAgttaccgtcgagAGATCGAGACCCGACGC chr15:73698329-Reference-A;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative T ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcct GGTTCTGTCGAG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAggttctgtcgagAGATCGAGACCCGACGC chr15:73698329-Alternative-T;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative C ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcct CGGCATTGCGAT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAcggcattgcgatAGATCGAGACCCGACGC chr15:73698329-Alternative-C;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative T ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcct GTAATCACGTGT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAgtaatcacgtgtAGATCGAGACCCGACGC chr15:73698329-Alternative-T;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative C ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcct GGTGATGACGAA CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAggtgatgacgaaAGATCGAGACCCGACGC chr15:73698329-Alternative-C;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative C ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcct ATCCTGAAGCGG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatCattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAatcctgaagcggAGATCGAGACCCGACGC chr15:73698329-Alternative-C;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Reference A ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcct AGGCAGTATCTT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAaggcagtatcttAGATCGAGACCCGACGC chr15:73698329-Reference-A;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Reference A ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcct GAGGTAGCTAAG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAgaggtagctaagAGATCGAGACCCGACGC chr15:73698329-Reference-A;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative T ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcct ATCGTCCGTGGT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAatcgtccgtggtAGATCGAGACCCGACGC chr15:73698329-Alternative-T;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Alternative T ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcct CGAGTGTCTGAC CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatTattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAcgagtgtctgacAGATCGAGACCCGACGC chr15:73698329-Alternative-T;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Reference A ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcct ACGCAAGTATCG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatAattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAacgcaagtatcgAGATCGAGACCCGACGC chr15:73698329-Reference-A;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Variant G ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcct CTACGGCATATT CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAActacggcatattAGATCGAGACCCGACGC chr15:73698329-Variant-G;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Variant G ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcct GGTTCTGAAGAA CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAggttctgaagaaAGATCGAGACCCGACGC chr15:73698329-Variant-G;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Variant G ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcct GAATGCGCTATA CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAgaatgcgctataAGATCGAGACCCGACGC chr15:73698329-Variant-G;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Variant G ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcct CGTGACGGTGAA CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAcgtgacggtgaaAGATCGAGACCCGACGC chr15:73698329-Variant-G;Patient-12 chr15:73698329-AG DeNovo Patient-12 intergenic 9.6e-05 0.000512821 NA NA NA HCN4 36723 Variant G ttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcct ATCGATGAGAAG CGACGCGGTCTCTCTCTttgcctatttttaaactttatataaattgtatcatacttaagtgccccatGattttattttttcactcacattttttgaatatttatctgtgttgatcctAGAGGGAGACGGACGTCTCAATAAatcgatgagaagAGATCGAGACCCGACGC chr15:73698329-Variant-G;Patient-12 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Reference G aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt ACGTAGCGTATA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAacgtagcgtataAGATCGAGACCCGACGC chr15:74433366-Reference-G;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Reference G aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt ATCTGCTTCGAT CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAatctgcttcgatAGATCGAGACCCGACGC chr15:74433366-Reference-G;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Variant A aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CGGCGCTTAAGA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcggcgcttaagaAGATCGAGACCCGACGC chr15:74433366-Variant-A;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative T aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt AGGTGATCGGCA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAaggtgatcggcaAGATCGAGACCCGACGC chr15:74433366-Alternative-T;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative T aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CGACTGTATTCA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcgactgtattcaAGATCGAGACCCGACGC chr15:74433366-Alternative-T;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative T aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt GTGCTCGAAGCT CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAgtgctcgaagctAGATCGAGACCCGACGC chr15:74433366-Alternative-T;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative C aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt GGAGTATCAGCG CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAggagtatcagcgAGATCGAGACCCGACGC chr15:74433366-Alternative-C;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Variant A aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt GATTCGCATAAC CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAgattcgcataacAGATCGAGACCCGACGC chr15:74433366-Variant-A;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative T aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CTCTTGGCGTTC CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAActcttggcgttcAGATCGAGACCCGACGC chr15:74433366-Alternative-T;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative C aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CGTAGATTCGAA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcgtagattcgaaAGATCGAGACCCGACGC chr15:74433366-Alternative-C;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Variant A aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CGAGTACACGAT CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcgagtacacgatAGATCGAGACCCGACGC chr15:74433366-Variant-A;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative C aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CTAGGCCATCGT CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAActaggccatcgtAGATCGAGACCCGACGC chr15:74433366-Alternative-C;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Variant A aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt AACCGCATTAGG CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAaaccgcattaggAGATCGAGACCCGACGC chr15:74433366-Variant-A;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative C aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt ACCTGGACATAT CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAacctggacatatAGATCGAGACCCGACGC chr15:74433366-Alternative-C;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Variant A aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CAGCGGATTAGG CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatAggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcagcggattaggAGATCGAGACCCGACGC chr15:74433366-Variant-A;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative C aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt GCCAATACGATA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatCggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAgccaatacgataAGATCGAGACCCGACGC chr15:74433366-Alternative-C;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Alternative T aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CGAAGGCCAATC CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatTggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcgaaggccaatcAGATCGAGACCCGACGC chr15:74433366-Alternative-T;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Reference G aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt AGACCGGACGAA CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAagaccggacgaaAGATCGAGACCCGACGC chr15:74433366-Reference-G;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Reference G aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt CAGTAAGGATGG CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAcagtaaggatggAGATCGAGACCCGACGC chr15:74433366-Reference-G;Patient-54 chr15:74433366-GA DeNovo Patient-54 intergenic 0.000892 0.00154 -0.17 0.9 1.07 STRA6 68679 Reference G aatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagactt ACATCTGCGGAG CGACGCGGTCTCTCTCTaatgagacttgatatggattttttaaaaagccatccaaaggccccatgatGggcacaaaaacaaaaccaacttgttgggttaaattagttggaaagacttAGAGGGAGACGGACGTCTCAATAAacatctgcggagAGATCGAGACCCGACGC chr15:74433366-Reference-G;Patient-54 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Variant G tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GGATGAATCGCT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAggatgaatcgctAGATCGAGACCCGACGC chr15:74442356-Variant-G;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Variant G tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc ACGCGGAGTACT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAacgcggagtactAGATCGAGACCCGACGC chr15:74442356-Variant-G;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative A tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GAGTAGCTAGCG CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgagtagctagcgAGATCGAGACCCGACGC chr15:74442356-Alternative-A;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Variant G tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GGTATTCTGCGG CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAggtattctgcggAGATCGAGACCCGACGC chr15:74442356-Variant-G;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Variant G tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc CTATAGCTCGTT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAActatagctcgttAGATCGAGACCCGACGC chr15:74442356-Variant-G;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Variant G tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GTTAGGTCCGAC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggGgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgttaggtccgacAGATCGAGACCCGACGC chr15:74442356-Variant-G;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative T tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc ATTACGGCTCTT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAattacggctcttAGATCGAGACCCGACGC chr15:74442356-Alternative-T;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Reference C tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc AGCTTATGGCGC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAagcttatggcgcAGATCGAGACCCGACGC chr15:74442356-Reference-C;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Reference C tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc CTGAAGTGTTCA CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAActgaagtgttcaAGATCGAGACCCGACGC chr15:74442356-Reference-C;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative A tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GCAAGTGAACGC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgcaagtgaacgcAGATCGAGACCCGACGC chr15:74442356-Alternative-A;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative T tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc CGAGTTCGTCGA CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAcgagttcgtcgaAGATCGAGACCCGACGC chr15:74442356-Alternative-T;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative T tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GTGATATGCGAC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgtgatatgcgacAGATCGAGACCCGACGC chr15:74442356-Alternative-T;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative T tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GCGCTATCCAAC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgcgctatccaacAGATCGAGACCCGACGC chr15:74442356-Alternative-T;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Reference C tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GTTACGTGTCTT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgttacgtgtcttAGATCGAGACCCGACGC chr15:74442356-Reference-C;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Reference C tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GACGTTCGCGAA CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgacgttcgcgaaAGATCGAGACCCGACGC chr15:74442356-Reference-C;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Reference C tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GAGTTAGGATGT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggCgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAgagttaggatgtAGATCGAGACCCGACGC chr15:74442356-Reference-C;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative T tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GGTATTGTGCGC CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggTgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAggtattgtgcgcAGATCGAGACCCGACGC chr15:74442356-Alternative-T;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative A tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc GGTCGTGTAACA CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAggtcgtgtaacaAGATCGAGACCCGACGC chr15:74442356-Alternative-A;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative A tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc CACAACACCTAT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAcacaacacctatAGATCGAGACCCGACGC chr15:74442356-Alternative-A;Patient-69 chr15:74442356-CG DeNovo Patient-69 intergenic NA 0.000513 -0.22 0.61 0 STRA6 59689 Alternative A tgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgc CGTTCACTTCTT CGACGCGGTCTCTCTCTtgacctcgtgatccacccgcctcggcctcccaaagtgctgggattacaggAgtgagccactgcgcctggccttgtgttgatcttatatctgcaaccttgcAGAGGGAGACGGACGTCTCAATAAcgttcacttcttAGATCGAGACCCGACGC chr15:74442356-Alternative-A;Patient-69 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Variant T cagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt ATCGGATAGGCG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAatcggataggcgAGATCGAGACCCGACGC chr15:74630880-Variant-T;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative G cagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt ACGTCGTGTGCA CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAacgtcgtgtgcaAGATCGAGACCCGACGC chr15:74630880-Alternative-G;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Variant T cagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GTTATACCACAG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAgttataccacagAGATCGAGACCCGACGC chr15:74630880-Variant-T;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative G cagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GCGTACTCTACG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAgcgtactctacgAGATCGAGACCCGACGC chr15:74630880-Alternative-G;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Reference C cagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CGAGGTAGCGTT CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAcgaggtagcgttAGATCGAGACCCGACGC chr15:74630880-Reference-C;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative A cagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt ATAGATCACGTC CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAatagatcacgtcAGATCGAGACCCGACGC chr15:74630880-Alternative-A;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative A cagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CGTAATTCGTGA CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAcgtaattcgtgaAGATCGAGACCCGACGC chr15:74630880-Alternative-A;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative A cagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GGATCTTCTGAA CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAggatcttctgaaAGATCGAGACCCGACGC chr15:74630880-Alternative-A;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative A cagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt AACAAGCATACG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAaacaagcatacgAGATCGAGACCCGACGC chr15:74630880-Alternative-A;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Variant T cagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GCAAGCGATTCG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAgcaagcgattcgAGATCGAGACCCGACGC chr15:74630880-Variant-T;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Reference C cagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CTAATCATCGAG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAActaatcatcgagAGATCGAGACCCGACGC chr15:74630880-Reference-C;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative G cagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CTCGTATTGCAT CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAActcgtattgcatAGATCGAGACCCGACGC chr15:74630880-Alternative-G;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative A cagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CGGTAGAACATA CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccAagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAcggtagaacataAGATCGAGACCCGACGC chr15:74630880-Alternative-A;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative G cagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GTAACTTGCTTC CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAgtaacttgcttcAGATCGAGACCCGACGC chr15:74630880-Alternative-G;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Variant T cagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt AGTCAGGTTGTT CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAagtcaggttgttAGATCGAGACCCGACGC chr15:74630880-Variant-T;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Reference C cagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt CGATTATCCTGT CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAcgattatcctgtAGATCGAGACCCGACGC chr15:74630880-Reference-C;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Reference C cagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt GACTACTCGACG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAgactactcgacgAGATCGAGACCCGACGC chr15:74630880-Reference-C;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Alternative G cagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt AATCGGTATCAG CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccGagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAaatcggtatcagAGATCGAGACCCGACGC chr15:74630880-Alternative-G;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Variant T cagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt AAGATTCGCCAC CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccTagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAaagattcgccacAGATCGAGACCCGACGC chr15:74630880-Variant-T;Patient-102 chr15:74630880-CT DeNovo Patient-102 intronic CYP11A1 NA 4.19e-05 0.25 6.54 1.8 CYP11A1 29200 Reference C cagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggt ACTGAATCACGT CGACGCGGTCTCTCTCTcagagataggaggaggaagattggtgccttcattagggccagggccagccCagggtgcctagatgtccccagcttgactcacattgatgaggaagatggtAGAGGGAGACGGACGTCTCAATAAactgaatcacgtAGATCGAGACCCGACGC chr15:74630880-Reference-C;Patient-102 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Reference G gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CAGCTTCGGTCT CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcagcttcggtctAGATCGAGACCCGACGC chr15:74696887-Reference-G;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Reference G gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ATCGACGTGTCG CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAatcgacgtgtcgAGATCGAGACCCGACGC chr15:74696887-Reference-G;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Reference G gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat AGGTACCGCGTT CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAaggtaccgcgttAGATCGAGACCCGACGC chr15:74696887-Reference-G;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Reference G gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ATCAACGCCAAC CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAatcaacgccaacAGATCGAGACCCGACGC chr15:74696887-Reference-G;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative T gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CGATATGCTAGT CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcgatatgctagtAGATCGAGACCCGACGC chr15:74696887-Alternative-T;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Reference G gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat GAATCGTAACAG CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgGtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAgaatcgtaacagAGATCGAGACCCGACGC chr15:74696887-Reference-G;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative T gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ACGCGAGCAACA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAacgcgagcaacaAGATCGAGACCCGACGC chr15:74696887-Alternative-T;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative T gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ACGTCCGCGTTA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAacgtccgcgttaAGATCGAGACCCGACGC chr15:74696887-Alternative-T;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative C gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CACTAGTACGAC CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcactagtacgacAGATCGAGACCCGACGC chr15:74696887-Alternative-C;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative C gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat GCATCCGTTAAC CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAgcatccgttaacAGATCGAGACCCGACGC chr15:74696887-Alternative-C;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative T gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat GATGGCGATAGA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAgatggcgatagaAGATCGAGACCCGACGC chr15:74696887-Alternative-T;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Variant A gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CAGGATTCTCGG CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcaggattctcggAGATCGAGACCCGACGC chr15:74696887-Variant-A;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative C gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat GTGTAAGTCGAA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAgtgtaagtcgaaAGATCGAGACCCGACGC chr15:74696887-Alternative-C;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative T gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CGTTCGGTTGTC CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgTtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcgttcggttgtcAGATCGAGACCCGACGC chr15:74696887-Alternative-T;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Variant A gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CATCCAACCTGG CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcatccaacctggAGATCGAGACCCGACGC chr15:74696887-Variant-A;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Variant A gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ACCGTCTTCTGG CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAaccgtcttctggAGATCGAGACCCGACGC chr15:74696887-Variant-A;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Variant A gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat ACAAGTTCACGT CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAacaagttcacgtAGATCGAGACCCGACGC chr15:74696887-Variant-A;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Variant A gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CACACGGTTCGA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgAtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcacacggttcgaAGATCGAGACCCGACGC chr15:74696887-Variant-A;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative C gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat GGCCATCTACCA CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAggccatctaccaAGATCGAGACCCGACGC chr15:74696887-Alternative-C;Patient-19 chr15:74696887-GA DeNovo Patient-19 intergenic 3.2e-05 0.000513 0 2.62 -1.2 CYP11A1 36805 Alternative C gacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaat CGAGGCTAGTCT CGACGCGGTCTCTCTCTgacacaagctctaaagtcagaaagcacaaacgggggttgttagcactgtgCtgtagcatccgctaggctcggggtagcaaataagttccatctgatcaatAGAGGGAGACGGACGTCTCAATAAcgaggctagtctAGATCGAGACCCGACGC chr15:74696887-Alternative-C;Patient-19 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Variant C acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg GGCGGTATCCAT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAggcggtatccatAGATCGAGACCCGACGC chr15:74734127-Variant-C;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative A acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CGGTGTAAGCGT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcggtgtaagcgtAGATCGAGACCCGACGC chr15:74734127-Alternative-A;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Reference T acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CACGGATAGTAA CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcacggatagtaaAGATCGAGACCCGACGC chr15:74734127-Reference-T;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative A acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg ATAGTATGGTGG CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAatagtatggtggAGATCGAGACCCGACGC chr15:74734127-Alternative-A;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Reference T acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CATCATTGAAGG CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcatcattgaaggAGATCGAGACCCGACGC chr15:74734127-Reference-T;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Reference T acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CACTATCGGATT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcactatcggattAGATCGAGACCCGACGC chr15:74734127-Reference-T;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Reference T acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CAGTCGCTTCGT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcagtcgcttcgtAGATCGAGACCCGACGC chr15:74734127-Reference-T;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative A acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CACGTAGACGTC CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcacgtagacgtcAGATCGAGACCCGACGC chr15:74734127-Alternative-A;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative G acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CAACAGCGCAAT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcaacagcgcaatAGATCGAGACCCGACGC chr15:74734127-Alternative-G;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Reference T acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CTACGTTGTCTA CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggTagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAActacgttgtctaAGATCGAGACCCGACGC chr15:74734127-Reference-T;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative G acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg ACCTAATCGCAG CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAacctaatcgcagAGATCGAGACCCGACGC chr15:74734127-Alternative-G;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative G acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CAATATAGGTGG CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcaatataggtggAGATCGAGACCCGACGC chr15:74734127-Alternative-G;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative G acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CATAATGTGCGT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcataatgtgcgtAGATCGAGACCCGACGC chr15:74734127-Alternative-G;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative G acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg ATACCGTCGCAG CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggGagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAataccgtcgcagAGATCGAGACCCGACGC chr15:74734127-Alternative-G;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative A acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CAAGTAGAGTGT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcaagtagagtgtAGATCGAGACCCGACGC chr15:74734127-Alternative-A;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Alternative A acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg AATCACGTGACT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggAagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAaatcacgtgactAGATCGAGACCCGACGC chr15:74734127-Alternative-A;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Variant C acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg GGAAGACGTCCT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAggaagacgtcctAGATCGAGACCCGACGC chr15:74734127-Variant-C;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Variant C acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg ACTCTAGGTACA CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAactctaggtacaAGATCGAGACCCGACGC chr15:74734127-Variant-C;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Variant C acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg CAAGATCAAGCT CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAcaagatcaagctAGATCGAGACCCGACGC chr15:74734127-Variant-C;Patient-27 chr15:74734127-TC DeNovo Patient-27 intergenic NA 0.000513 1.76 17.17 -0.6 UBL7 19401 Variant C acacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcg ACGAACTTCTGA CGACGCGGTCTCTCTCTacacccagggccaaagtctgtggcaacagcaacaagaagccacctcagggCagggctctgtgagcttggtctggggcccaggccagatgggactgaggcgAGAGGGAGACGGACGTCTCAATAAacgaacttctgaAGATCGAGACCCGACGC chr15:74734127-Variant-C;Patient-27 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative G ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GACCTCCGTCTA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAgacctccgtctaAGATCGAGACCCGACGC chr15:75026549-Alternative-G;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative G ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc AGTGATATTGCG CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAagtgatattgcgAGATCGAGACCCGACGC chr15:75026549-Alternative-G;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative G ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc ACTCTCTCGGCA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAactctctcggcaAGATCGAGACCCGACGC chr15:75026549-Alternative-G;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Variant A ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc CGGCGGTAATGA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAcggcggtaatgaAGATCGAGACCCGACGC chr15:75026549-Variant-A;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Variant A ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc CGGATAATCGTT CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAcggataatcgttAGATCGAGACCCGACGC chr15:75026549-Variant-A;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative G ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc AGGCTTCGGACA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAaggcttcggacaAGATCGAGACCCGACGC chr15:75026549-Alternative-G;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative T ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc CAGCGAGCTAAC CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAcagcgagctaacAGATCGAGACCCGACGC chr15:75026549-Alternative-T;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Reference C ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc AATGGTTACCGA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAaatggttaccgaAGATCGAGACCCGACGC chr15:75026549-Reference-C;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Reference C ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GGCACGCTATGT CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAggcacgctatgtAGATCGAGACCCGACGC chr15:75026549-Reference-C;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Reference C ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc AGGCGCACAGTT CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAaggcgcacagttAGATCGAGACCCGACGC chr15:75026549-Reference-C;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Reference C ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc AGAGTTGACGGC CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAagagttgacggcAGATCGAGACCCGACGC chr15:75026549-Reference-C;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Reference C ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GGTTCGCTGTTC CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaCcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAggttcgctgttcAGATCGAGACCCGACGC chr15:75026549-Reference-C;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Variant A ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc CAACCGATACCA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAcaaccgataccaAGATCGAGACCCGACGC chr15:75026549-Variant-A;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Variant A ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc ACGTTGCTGCCT CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAacgttgctgcctAGATCGAGACCCGACGC chr15:75026549-Variant-A;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative G ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc CTGAATTGTCGA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaGcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAActgaattgtcgaAGATCGAGACCCGACGC chr15:75026549-Alternative-G;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Variant A ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GTCATAGCTAGA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaAcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAgtcatagctagaAGATCGAGACCCGACGC chr15:75026549-Variant-A;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative T ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GTTGACTCGTCA CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAgttgactcgtcaAGATCGAGACCCGACGC chr15:75026549-Alternative-T;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative T ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GGTACAGTACAC CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAggtacagtacacAGATCGAGACCCGACGC chr15:75026549-Alternative-T;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative T ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GGCTCGATAGTC CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAggctcgatagtcAGATCGAGACCCGACGC chr15:75026549-Alternative-T;Patient-100 chr15:75026549-CA DeNovo Patient-100 intergenic NA 3.91e-05 -0.08 1.62 0.14 CYP1A2 14634 Alternative T ggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatcc GATACGGTACTT CGACGCGGTCTCTCTCTggtgggaggtgattgggtcatggggtcggatcctcataaatggtttagcaTcatccccttggtgctaagtgagttctcaccctaagttcatgtgagatccAGAGGGAGACGGACGTCTCAATAAgatacggtacttAGATCGAGACCCGACGC chr15:75026549-Alternative-T;Patient-100 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Variant G ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact AGACGTTCGCAC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAagacgttcgcacAGATCGAGACCCGACGC chr15:75740220-Variant-G;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Variant G ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CGCAATGTGGAG CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcgcaatgtggagAGATCGAGACCCGACGC chr15:75740220-Variant-G;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Variant G ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact GGTAGACGTACC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAggtagacgtaccAGATCGAGACCCGACGC chr15:75740220-Variant-G;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Reference A ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CAACGCAACGTC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcaacgcaacgtcAGATCGAGACCCGACGC chr15:75740220-Reference-A;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Reference A ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CTATCGCGAACC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAActatcgcgaaccAGATCGAGACCCGACGC chr15:75740220-Reference-A;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative T ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact ATCGGACCGTGT CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAatcggaccgtgtAGATCGAGACCCGACGC chr15:75740220-Alternative-T;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative T ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact GTGACCGTGTAC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAgtgaccgtgtacAGATCGAGACCCGACGC chr15:75740220-Alternative-T;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Variant G ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact ACAACCGAAGTT CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAacaaccgaagttAGATCGAGACCCGACGC chr15:75740220-Variant-G;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Variant G ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact AGGCTATCAACT CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaGattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAaggctatcaactAGATCGAGACCCGACGC chr15:75740220-Variant-G;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative C ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CATGCGCGAGAA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcatgcgcgagaaAGATCGAGACCCGACGC chr15:75740220-Alternative-C;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Reference A ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact GTGACGTTGTCG CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAgtgacgttgtcgAGATCGAGACCCGACGC chr15:75740220-Reference-A;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Reference A ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact GATAGCTTACCA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAgatagcttaccaAGATCGAGACCCGACGC chr15:75740220-Reference-A;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative C ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CGACAACTCCGA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcgacaactccgaAGATCGAGACCCGACGC chr15:75740220-Alternative-C;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative C ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact ATCCTGCGCCTA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAatcctgcgcctaAGATCGAGACCCGACGC chr15:75740220-Alternative-C;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative T ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact AGATCGCCTATC CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAagatcgcctatcAGATCGAGACCCGACGC chr15:75740220-Alternative-T;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative T ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CAGCGTTCAGCA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcagcgttcagcaAGATCGAGACCCGACGC chr15:75740220-Alternative-T;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative C ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CGTACGAGCGTT CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcgtacgagcgttAGATCGAGACCCGACGC chr15:75740220-Alternative-C;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative C ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact CAGTTGCTGCGA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaCattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAcagttgctgcgaAGATCGAGACCCGACGC chr15:75740220-Alternative-C;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Reference A ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact AGGACGCGAGTT CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaAattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAaggacgcgagttAGATCGAGACCCGACGC chr15:75740220-Reference-A;Patient-30 chr15:75740220-AG Inherited Patient-30 intronic SIN3A 0.000733 0.00016 NA NA NA SIN3A 7903 Alternative T ggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcact ACTGCGATACTA CGACGCGGTCTCTCTCTggtagggaaaacaaaagcaaaaggggcaaataagaaatacatcaggtagaTattgccacccatgaccgggcacggtgactcacgtcttaatcctagcactAGAGGGAGACGGACGTCTCAATAAactgcgatactaAGATCGAGACCCGACGC chr15:75740220-Alternative-T;Patient-30 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative G taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GGTATTACGACG CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAggtattacgacgAGATCGAGACCCGACGC chr15:75742706-Alternative-G;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Reference T taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GTTGTTCTAGCT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgttgttctagctAGATCGAGACCCGACGC chr15:75742706-Reference-T;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative G taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GTCGTACGTGCA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgtcgtacgtgcaAGATCGAGACCCGACGC chr15:75742706-Alternative-G;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Reference T taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GATTCGTAACCA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgattcgtaaccaAGATCGAGACCCGACGC chr15:75742706-Reference-T;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Reference T taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa CAGACGTCAACT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAcagacgtcaactAGATCGAGACCCGACGC chr15:75742706-Reference-T;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative G taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa AGATTCCAAGCA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAagattccaagcaAGATCGAGACCCGACGC chr15:75742706-Alternative-G;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative G taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa CGGATTGTGTGC CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAcggattgtgtgcAGATCGAGACCCGACGC chr15:75742706-Alternative-G;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Reference T taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa AACGTTCATGCA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAaacgttcatgcaAGATCGAGACCCGACGC chr15:75742706-Reference-T;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Reference T taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GAAGTTCACCGC CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaTtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgaagttcaccgcAGATCGAGACCCGACGC chr15:75742706-Reference-T;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Variant C taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GATCATTGACGT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgatcattgacgtAGATCGAGACCCGACGC chr15:75742706-Variant-C;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative G taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GTTCACCACGTC CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaGtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgttcaccacgtcAGATCGAGACCCGACGC chr15:75742706-Alternative-G;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative A taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa AGCCGCTCTCTT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAagccgctctcttAGATCGAGACCCGACGC chr15:75742706-Alternative-A;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative A taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa CTAATCTGGTCT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAActaatctggtctAGATCGAGACCCGACGC chr15:75742706-Alternative-A;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Variant C taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa AGTGACGATCAA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAagtgacgatcaaAGATCGAGACCCGACGC chr15:75742706-Variant-C;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative A taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa ACTGCGTGGAAC CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAactgcgtggaacAGATCGAGACCCGACGC chr15:75742706-Alternative-A;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Variant C taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GGAGGTAGACGT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAggaggtagacgtAGATCGAGACCCGACGC chr15:75742706-Variant-C;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Variant C taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa AGTTGAGGTGAT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAagttgaggtgatAGATCGAGACCCGACGC chr15:75742706-Variant-C;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative A taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa ACTGAAGTTCCA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAactgaagttccaAGATCGAGACCCGACGC chr15:75742706-Alternative-A;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Variant C taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa GCGTGTGTGGTT CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaCtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAgcgtgtgtggttAGATCGAGACCCGACGC chr15:75742706-Variant-C;Patient-50 chr15:75742706-TC DeNovo Patient-50 intronic SIN3A NA 0.00016 1.16 14.22 1.59 SIN3A 5417 Alternative A taaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaa CATCGCTATGAA CGACGCGGTCTCTCTCTtaaagtcctaacgcaccgaaacagacgccaagtctactacccaccacccaAtggctcaaaggaagccccgccccgtacagccacggtaactgaacatcaaAGAGGGAGACGGACGTCTCAATAAcatcgctatgaaAGATCGAGACCCGACGC chr15:75742706-Alternative-A;Patient-50 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative C aaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CGAAGGTTCAGG CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAcgaaggttcaggAGATCGAGACCCGACGC chr15:75880740-Alternative-C;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative C aaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat ACCTTCACGTAC CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAaccttcacgtacAGATCGAGACCCGACGC chr15:75880740-Alternative-C;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative G aaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CGCTATACGGAT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAcgctatacggatAGATCGAGACCCGACGC chr15:75880740-Alternative-G;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative G aaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GATCCTGGATAT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAgatcctggatatAGATCGAGACCCGACGC chr15:75880740-Alternative-G;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative C aaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat ATCGACCGGACA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAatcgaccggacaAGATCGAGACCCGACGC chr15:75880740-Alternative-C;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative C aaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CTAGTCGGCTGA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAActagtcggctgaAGATCGAGACCCGACGC chr15:75880740-Alternative-C;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Variant A aaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat AAGGTGAACGAA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAaaggtgaacgaaAGATCGAGACCCGACGC chr15:75880740-Variant-A;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative G aaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GGACGTGTCGTT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAggacgtgtcgttAGATCGAGACCCGACGC chr15:75880740-Alternative-G;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative G aaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CGATCTTACACG CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAcgatcttacacgAGATCGAGACCCGACGC chr15:75880740-Alternative-G;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Variant A aaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat ATCAACGCTGAA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAatcaacgctgaaAGATCGAGACCCGACGC chr15:75880740-Variant-A;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Variant A aaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat ACAACGTTGCTA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAacaacgttgctaAGATCGAGACCCGACGC chr15:75880740-Variant-A;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Reference T aaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GCATGCCAACCT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAgcatgccaacctAGATCGAGACCCGACGC chr15:75880740-Reference-T;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative G aaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CGGACATAAGAT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtGaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAcggacataagatAGATCGAGACCCGACGC chr15:75880740-Alternative-G;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Reference T aaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GAGTCCGGTGAT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAgagtccggtgatAGATCGAGACCCGACGC chr15:75880740-Reference-T;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Alternative C aaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GGTAGTATCCAA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtCaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAggtagtatccaaAGATCGAGACCCGACGC chr15:75880740-Alternative-C;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Reference T aaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat AGTGTCGTTCTT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAagtgtcgttcttAGATCGAGACCCGACGC chr15:75880740-Reference-T;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Reference T aaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat CGTTCTCCGGTT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAcgttctccggttAGATCGAGACCCGACGC chr15:75880740-Reference-T;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Reference T aaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GGCCATAGACCA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtTaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAggccatagaccaAGATCGAGACCCGACGC chr15:75880740-Reference-T;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Variant A aaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat AGTTGGCCGAGT CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAagttggccgagtAGATCGAGACCCGACGC chr15:75880740-Variant-A;Patient-53 chr15:75880740-TA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.22 0 IMP3 51923 Variant A aaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggat GCGTTACTCCGA CGACGCGGTCTCTCTCTaaataaataaaataaaataaaattacaatgagataccatctcaccccagtAaaaatggtttttatccaaaagacaggcaataacaaatgctggcaaggatAGAGGGAGACGGACGTCTCAATAAgcgttactccgaAGATCGAGACCCGACGC chr15:75880740-Variant-A;Patient-53 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative T tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AAGCGGTTACTT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAaagcggttacttAGATCGAGACCCGACGC chr15:76635815-Alternative-T;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Reference G tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AACACCGTAGAT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAaacaccgtagatAGATCGAGACCCGACGC chr15:76635815-Reference-G;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative T tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GTATATACCGCG CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAgtatataccgcgAGATCGAGACCCGACGC chr15:76635815-Alternative-T;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative T tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GGCTGACTAGTC CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAggctgactagtcAGATCGAGACCCGACGC chr15:76635815-Alternative-T;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Variant C tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AGACCTCATGGT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAagacctcatggtAGATCGAGACCCGACGC chr15:76635815-Variant-C;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Reference G tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggac CGATCCAATTGA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAcgatccaattgaAGATCGAGACCCGACGC chr15:76635815-Reference-G;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative A tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GAGCAACGGAGA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAgagcaacggagaAGATCGAGACCCGACGC chr15:76635815-Alternative-A;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Variant C tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggac CTGCGAACGCAT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAActgcgaacgcatAGATCGAGACCCGACGC chr15:76635815-Variant-C;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative T tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggac CTACGCGCACTA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAActacgcgcactaAGATCGAGACCCGACGC chr15:76635815-Alternative-T;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative A tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AAGTGCTTCGAT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAaagtgcttcgatAGATCGAGACCCGACGC chr15:76635815-Alternative-A;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative A tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GGAGGTAGCGAT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAggaggtagcgatAGATCGAGACCCGACGC chr15:76635815-Alternative-A;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Reference G tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggac CGTGTTGCGCTA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAcgtgttgcgctaAGATCGAGACCCGACGC chr15:76635815-Reference-G;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Variant C tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GCATCCGTATTA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAgcatccgtattaAGATCGAGACCCGACGC chr15:76635815-Variant-C;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Variant C tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AAGATCGCTATC CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAaagatcgctatcAGATCGAGACCCGACGC chr15:76635815-Variant-C;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative A tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggac ACTTGGTGAACG CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAacttggtgaacgAGATCGAGACCCGACGC chr15:76635815-Alternative-A;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative A tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GTTAGACCATGG CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaAgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAgttagaccatggAGATCGAGACCCGACGC chr15:76635815-Alternative-A;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Reference G tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AGACCTCCGTCT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAagacctccgtctAGATCGAGACCCGACGC chr15:76635815-Reference-G;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Reference G tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GGCGAAGTACGA CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaGgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAggcgaagtacgaAGATCGAGACCCGACGC chr15:76635815-Reference-G;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Variant C tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggac GCAGGACGGTAT CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaCgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAgcaggacggtatAGATCGAGACCCGACGC chr15:76635815-Variant-C;Patient-33 chr15:76635815-GC DeNovo Patient-33 intergenic NA 0.000512821 NA NA NA ETFA 32004 Alternative T tacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggac AACGCTGTTGCG CGACGCGGTCTCTCTCTtacacaaaaacaaaaaaccccaaaagaaagaaagaaaaaaaacccacggaTgctcaggttttactctttacaaatatttaaccctttggcagcctgggacAGAGGGAGACGGACGTCTCAATAAaacgctgttgcgAGATCGAGACCCGACGC chr15:76635815-Alternative-T;Patient-33 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative G ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga CACTTAGGTCCT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAcacttaggtcctAGATCGAGACCCGACGC chr15:77386451-Alternative-G;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative G ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GATACACCGGCA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgatacaccggcaAGATCGAGACCCGACGC chr15:77386451-Alternative-G;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative G ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga CGCCAGGCTATA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAcgccaggctataAGATCGAGACCCGACGC chr15:77386451-Alternative-G;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative A ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GTCAATCTGCAA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgtcaatctgcaaAGATCGAGACCCGACGC chr15:77386451-Alternative-A;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Variant T ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga AAGAAGATCGTC CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAaagaagatcgtcAGATCGAGACCCGACGC chr15:77386451-Variant-T;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative A ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga AGATCAGTCGAG CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAagatcagtcgagAGATCGAGACCCGACGC chr15:77386451-Alternative-A;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative G ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga AGACGGTTGTAA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAagacggttgtaaAGATCGAGACCCGACGC chr15:77386451-Alternative-G;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative G ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GATAGAGTCTGT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatGtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgatagagtctgtAGATCGAGACCCGACGC chr15:77386451-Alternative-G;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Variant T ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GGTAGGATTCTT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAggtaggattcttAGATCGAGACCCGACGC chr15:77386451-Variant-T;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Reference C ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga CTTGACAGACGT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAActtgacagacgtAGATCGAGACCCGACGC chr15:77386451-Reference-C;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative A ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GTAGTCTGAGTT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgtagtctgagttAGATCGAGACCCGACGC chr15:77386451-Alternative-A;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Reference C ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GCGGAACGCTTA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgcggaacgcttaAGATCGAGACCCGACGC chr15:77386451-Reference-C;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Variant T ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GTGTTACCAAGT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgtgttaccaagtAGATCGAGACCCGACGC chr15:77386451-Variant-T;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative A ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GGCGGCATGTAA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAggcggcatgtaaAGATCGAGACCCGACGC chr15:77386451-Alternative-A;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Reference C ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga CTGAGGAGTCGA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAActgaggagtcgaAGATCGAGACCCGACGC chr15:77386451-Reference-C;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Reference C ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GCGTTCTTCTAA CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgcgttcttctaaAGATCGAGACCCGACGC chr15:77386451-Reference-C;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Variant T ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga ACTTGCGACGAC CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAacttgcgacgacAGATCGAGACCCGACGC chr15:77386451-Variant-T;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Variant T ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga ATTGCTCTAACG CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatTtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAattgctctaacgAGATCGAGACCCGACGC chr15:77386451-Variant-T;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Reference C ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga GACTATCCGGAG CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatCtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAAgactatccggagAGATCGAGACCCGACGC chr15:77386451-Reference-C;Patient-72 chr15:77386451-CT DeNovo Patient-72 intergenic 0.000103 0.00154 -0.08 1.62 0.11 PSTPIP1 98985 Alternative A ccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggagga CTTGCGCTCGTT CGACGCGGTCTCTCTCTccaagattgtgccactgcactccagcctggggcacagagtgaggctccatAtcaaaaaaaaaaaaaaaaaagaaaagaaaatgaaagattgtatggaggaAGAGGGAGACGGACGTCTCAATAActtgcgctcgttAGATCGAGACCCGACGC chr15:77386451-Alternative-A;Patient-72 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Reference C tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttc CGTGAAGATGAG CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAcgtgaagatgagAGATCGAGACCCGACGC chr15:78503251-Reference-C;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative G tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttc CACGCGTTGTGT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAcacgcgttgtgtAGATCGAGACCCGACGC chr15:78503251-Alternative-G;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative G tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttc CAGTAACGTTCA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAcagtaacgttcaAGATCGAGACCCGACGC chr15:78503251-Alternative-G;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative G tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttc AGACGGAGCGTT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAagacggagcgttAGATCGAGACCCGACGC chr15:78503251-Alternative-G;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative A tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttc ATCAAGCCGGAT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAatcaagccggatAGATCGAGACCCGACGC chr15:78503251-Alternative-A;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Variant T tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttc AGCTCTGAACAT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAagctctgaacatAGATCGAGACCCGACGC chr15:78503251-Variant-T;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative A tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttc CGATCACGAGCT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAcgatcacgagctAGATCGAGACCCGACGC chr15:78503251-Alternative-A;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative A tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GGTCTTCACGCT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAggtcttcacgctAGATCGAGACCCGACGC chr15:78503251-Alternative-A;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative G tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GTCGTACATAGT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgtcgtacatagtAGATCGAGACCCGACGC chr15:78503251-Alternative-G;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative A tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GAGACTGACGAC CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgagactgacgacAGATCGAGACCCGACGC chr15:78503251-Alternative-A;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Variant T tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GTTAGATCTACC CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgttagatctaccAGATCGAGACCCGACGC chr15:78503251-Variant-T;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative G tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttc AAGTACGGTCTA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctGggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAaagtacggtctaAGATCGAGACCCGACGC chr15:78503251-Alternative-G;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Variant T tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GCCGGTTAGCTA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgccggttagctaAGATCGAGACCCGACGC chr15:78503251-Variant-T;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Reference C tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GTTACGTTCCAT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgttacgttccatAGATCGAGACCCGACGC chr15:78503251-Reference-C;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Variant T tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GTAGTATCGAGA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgtagtatcgagaAGATCGAGACCCGACGC chr15:78503251-Variant-T;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Reference C tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GATTCAACGTCT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgattcaacgtctAGATCGAGACCCGACGC chr15:78503251-Reference-C;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Alternative A tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttc ATACCGGTCAAT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctAggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAataccggtcaatAGATCGAGACCCGACGC chr15:78503251-Alternative-A;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Variant T tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttc GTGCTATACCTT CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctTggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAgtgctataccttAGATCGAGACCCGACGC chr15:78503251-Variant-T;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Reference C tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttc CTTATGCAACGA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAActtatgcaacgaAGATCGAGACCCGACGC chr15:78503251-Reference-C;Patient-26 chr15:78503251-CT DeNovo Patient-26 intronic ACSBG1 0.000669 4.95e-05 -0.15 1.01 -2.29 ACSBG1 23797 Reference C tagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttc ACCTCCTGTCGA CGACGCGGTCTCTCTCTtagccttggcctcctaaagtactgggattataggcgcaagtcaccatgctCggccattttttagtttttaatcctctcctctgtgactagcagtcacttcAGAGGGAGACGGACGTCTCAATAAacctcctgtcgaAGATCGAGACCCGACGC chr15:78503251-Reference-C;Patient-26 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative T ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg ACAGCGTGAATA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAacagcgtgaataAGATCGAGACCCGACGC chr15:78759879-Alternative-T;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative T ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg AGGTACGGCGAT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAaggtacggcgatAGATCGAGACCCGACGC chr15:78759879-Alternative-T;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative T ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GTAAGGTTGACA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgtaaggttgacaAGATCGAGACCCGACGC chr15:78759879-Alternative-T;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative T ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GTTCCAGGACGT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgttccaggacgtAGATCGAGACCCGACGC chr15:78759879-Alternative-T;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative A ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg ATCCGGCGTACA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAatccggcgtacaAGATCGAGACCCGACGC chr15:78759879-Alternative-A;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Reference C ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg AGCGTGACTCTT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAagcgtgactcttAGATCGAGACCCGACGC chr15:78759879-Reference-C;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative T ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GAGCTAGATGAT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataTaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgagctagatgatAGATCGAGACCCGACGC chr15:78759879-Alternative-T;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative A ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg AGGCTGTAGTGG CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAaggctgtagtggAGATCGAGACCCGACGC chr15:78759879-Alternative-A;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative A ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GCCGTAACTAAT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgccgtaactaatAGATCGAGACCCGACGC chr15:78759879-Alternative-A;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Reference C ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg CAACAAGGTCGC CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAcaacaaggtcgcAGATCGAGACCCGACGC chr15:78759879-Reference-C;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Variant G ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GTGTCGTGTGCA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgtgtcgtgtgcaAGATCGAGACCCGACGC chr15:78759879-Variant-G;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative A ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg CAGCTCACTTCG CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAcagctcacttcgAGATCGAGACCCGACGC chr15:78759879-Alternative-A;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Reference C ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg CGGCTCTAATCG CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAcggctctaatcgAGATCGAGACCCGACGC chr15:78759879-Reference-C;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Alternative A ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg CGGTGTTAGCGA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataAaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAcggtgttagcgaAGATCGAGACCCGACGC chr15:78759879-Alternative-A;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Reference C ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GCGCTGCATGTT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgcgctgcatgttAGATCGAGACCCGACGC chr15:78759879-Reference-C;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Reference C ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GCGTTCGTACAC CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataCaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAgcgttcgtacacAGATCGAGACCCGACGC chr15:78759879-Reference-C;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Variant G ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg ATCGCTCGTTCG CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAatcgctcgttcgAGATCGAGACCCGACGC chr15:78759879-Variant-G;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Variant G ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg ATTCGGAGTGAA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAattcggagtgaaAGATCGAGACCCGACGC chr15:78759879-Variant-G;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Variant G ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg GGTCATGGAATA CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAggtcatggaataAGATCGAGACCCGACGC chr15:78759879-Variant-G;Patient-87 chr15:78759879-CG Inherited Patient-87 intronic IREB2 NA 4.95e-05 0.61 10.39 0.23 IREB2 29347 Variant G ttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttggg AGCTTAGACGCT CGACGCGGTCTCTCTCTttcgaggccagcctggcaaacatggcgaaaccccatctctactaaaaataGaaaattagccaggcatggtggcaggaacctgtaatcccagatacttgggAGAGGGAGACGGACGTCTCAATAAagcttagacgctAGATCGAGACCCGACGC chr15:78759879-Variant-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Variant C caggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CTGTGTCTTAGT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAActgtgtcttagtAGATCGAGACCCGACGC chr15:79201305-Variant-C;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Variant C caggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg ATCGTCCTGACC CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAatcgtcctgaccAGATCGAGACCCGACGC chr15:79201305-Variant-C;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative A caggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AGTGTCGTTCGG CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAagtgtcgttcggAGATCGAGACCCGACGC chr15:79201305-Alternative-A;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Reference T caggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GTTAGCTGAATC CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAgttagctgaatcAGATCGAGACCCGACGC chr15:79201305-Reference-T;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Variant C caggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AGACGCCATTGT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAagacgccattgtAGATCGAGACCCGACGC chr15:79201305-Variant-C;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative A caggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AGCTAAGGCAAG CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAagctaaggcaagAGATCGAGACCCGACGC chr15:79201305-Alternative-A;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative G caggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CGCGTTCTGAGA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAcgcgttctgagaAGATCGAGACCCGACGC chr15:79201305-Alternative-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative G caggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AGCGCATATAAG CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAagcgcatataagAGATCGAGACCCGACGC chr15:79201305-Alternative-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Reference T caggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CTTAGCGCATAT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAActtagcgcatatAGATCGAGACCCGACGC chr15:79201305-Reference-T;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative G caggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GGCGTGGAATGT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAggcgtggaatgtAGATCGAGACCCGACGC chr15:79201305-Alternative-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Reference T caggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GATACGGAGCAA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAgatacggagcaaAGATCGAGACCCGACGC chr15:79201305-Reference-T;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative A caggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AGCAACCTGACA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAagcaacctgacaAGATCGAGACCCGACGC chr15:79201305-Alternative-A;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Reference T caggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CGCAATCAACGA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAcgcaatcaacgaAGATCGAGACCCGACGC chr15:79201305-Reference-T;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Variant C caggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg AATGGCGAGTTA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAaatggcgagttaAGATCGAGACCCGACGC chr15:79201305-Variant-C;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative A caggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GTCATGGTAGAA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAgtcatggtagaaAGATCGAGACCCGACGC chr15:79201305-Alternative-A;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Reference T caggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CGCCGTAATTAT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaTagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAcgccgtaattatAGATCGAGACCCGACGC chr15:79201305-Reference-T;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative G caggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GGCGTCACGTAA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAggcgtcacgtaaAGATCGAGACCCGACGC chr15:79201305-Alternative-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative G caggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CGCATGTGATAC CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaGagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAcgcatgtgatacAGATCGAGACCCGACGC chr15:79201305-Alternative-G;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Variant C caggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg CGTCAAGTTACA CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaCagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAcgtcaagttacaAGATCGAGACCCGACGC chr15:79201305-Variant-C;Patient-87 chr15:79201305-TC Inherited Patient-87 intergenic 9.6e-05 0.000513 -0.33 0.3 -0.32 CTSH 36127 Alternative A caggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaagg GGCTGTTGTCCT CGACGCGGTCTCTCTCTcaggctggtatctcaggactccaaaattacatggtatctcaggactccaaAagtgagggttcaaagagataagaaatggaagctgccaggctagttaaggAGAGGGAGACGGACGTCTCAATAAggctgttgtcctAGATCGAGACCCGACGC chr15:79201305-Alternative-A;Patient-87 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Reference G ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg ATTCTGCGTTCA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAattctgcgttcaAGATCGAGACCCGACGC chr15:79220722-Reference-G;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Reference G ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CGTACTAAGGTT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAcgtactaaggttAGATCGAGACCCGACGC chr15:79220722-Reference-G;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Variant C ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GTCTATATTCGG CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAgtctatattcggAGATCGAGACCCGACGC chr15:79220722-Variant-C;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Reference G ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GCGACCATCAAT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAgcgaccatcaatAGATCGAGACCCGACGC chr15:79220722-Reference-G;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Variant C ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GTGTCTCAACCT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAgtgtctcaacctAGATCGAGACCCGACGC chr15:79220722-Variant-C;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative A ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GGCGCACTCATA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAggcgcactcataAGATCGAGACCCGACGC chr15:79220722-Alternative-A;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative T ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GAGTACTTGGTT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAgagtacttggttAGATCGAGACCCGACGC chr15:79220722-Alternative-T;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Variant C ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg AGTCAGCCAACC CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAagtcagccaaccAGATCGAGACCCGACGC chr15:79220722-Variant-C;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Reference G ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg ACACCACTGTAA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAacaccactgtaaAGATCGAGACCCGACGC chr15:79220722-Reference-G;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Reference G ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg AGGCTCCGTAGA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaGatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAaggctccgtagaAGATCGAGACCCGACGC chr15:79220722-Reference-G;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative T ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CTGAATTGTGCA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAActgaattgtgcaAGATCGAGACCCGACGC chr15:79220722-Alternative-T;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative A ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg ATCCGTCTATAC CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAatccgtctatacAGATCGAGACCCGACGC chr15:79220722-Alternative-A;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative T ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CGGCGGTTACTT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAcggcggttacttAGATCGAGACCCGACGC chr15:79220722-Alternative-T;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative T ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg AACGTGACTAAG CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAaacgtgactaagAGATCGAGACCCGACGC chr15:79220722-Alternative-T;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative T ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg AGTACGCAGTAA CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaTatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAagtacgcagtaaAGATCGAGACCCGACGC chr15:79220722-Alternative-T;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Variant C ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CTGTGCTTCTGG CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAActgtgcttctggAGATCGAGACCCGACGC chr15:79220722-Variant-C;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative A ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CTGGCATTCATT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAActggcattcattAGATCGAGACCCGACGC chr15:79220722-Alternative-A;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative A ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg GATGCACCATAT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAgatgcaccatatAGATCGAGACCCGACGC chr15:79220722-Alternative-A;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Variant C ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CTACACCGTATT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaCatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAActacaccgtattAGATCGAGACCCGACGC chr15:79220722-Variant-C;Patient-83 chr15:79220722-GC DeNovo Patient-83 intronic CTSH NA 0.00099 0.29 7.1 0.55 CTSH 16710 Alternative A ggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtg CACGCATGTGGT CGACGCGGTCTCTCTCTggccgaggcggtagatcacgaggccaggagttcaataccagtctggccaaAatggtgaaaccctgtctctactaaaaatataaaaagttagctgggcgtgAGAGGGAGACGGACGTCTCAATAAcacgcatgtggtAGATCGAGACCCGACGC chr15:79220722-Alternative-A;Patient-83 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Variant C agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag ACTGTTCACATC CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAactgttcacatcAGATCGAGACCCGACGC chr15:79644891-Variant-C;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative A agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GATTCTGCGCCA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgattctgcgccaAGATCGAGACCCGACGC chr15:79644891-Alternative-A;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Variant C agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag CAACTAACCACA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAcaactaaccacaAGATCGAGACCCGACGC chr15:79644891-Variant-C;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative A agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GTTAAGTCTCGA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgttaagtctcgaAGATCGAGACCCGACGC chr15:79644891-Alternative-A;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative A agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag CATCGCAGAGAA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAcatcgcagagaaAGATCGAGACCCGACGC chr15:79644891-Alternative-A;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Reference T agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag AGTCATTGACGA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAagtcattgacgaAGATCGAGACCCGACGC chr15:79644891-Reference-T;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative G agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag CGAACTAGTACT CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAcgaactagtactAGATCGAGACCCGACGC chr15:79644891-Alternative-G;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Variant C agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag ATCGCGATATCA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAatcgcgatatcaAGATCGAGACCCGACGC chr15:79644891-Variant-C;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Variant C agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GATTCGTTGACA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgattcgttgacaAGATCGAGACCCGACGC chr15:79644891-Variant-C;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative A agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag CGATTGCTGAAT CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAcgattgctgaatAGATCGAGACCCGACGC chr15:79644891-Alternative-A;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative A agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GCAGACGAAGTC CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccAgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgcagacgaagtcAGATCGAGACCCGACGC chr15:79644891-Alternative-A;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative G agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag ATCATCTAGCGT CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAatcatctagcgtAGATCGAGACCCGACGC chr15:79644891-Alternative-G;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Reference T agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GCGTAGCGCTAA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgcgtagcgctaaAGATCGAGACCCGACGC chr15:79644891-Reference-T;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative G agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag ACACTAGGTCGG CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAacactaggtcggAGATCGAGACCCGACGC chr15:79644891-Alternative-G;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Reference T agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag CTATGATGCGCG CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAActatgatgcgcgAGATCGAGACCCGACGC chr15:79644891-Reference-T;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Variant C agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GACAGTTCCATA CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccCgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgacagttccataAGATCGAGACCCGACGC chr15:79644891-Variant-C;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Reference T agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GACCACATTCGC CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgaccacattcgcAGATCGAGACCCGACGC chr15:79644891-Reference-T;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative G agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag ATCGCGGTTACG CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAatcgcggttacgAGATCGAGACCCGACGC chr15:79644891-Alternative-G;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Reference T agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag AAGCGCTAAGAT CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccTgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAaagcgctaagatAGATCGAGACCCGACGC chr15:79644891-Reference-T;Patient-71 chr15:79644891-TC DeNovo Patient-71 intergenic NA 0.000126 0.21 5.97 1.82 TMED3 41486 Alternative G agaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaag GTGGCAAGCGTT CGACGCGGTCTCTCTCTagaggatttactaatgtgacacatgcctcttagaaactgtgttttcttccGgcacttaagcccctaaaataaaataaaatagaagtcttaattttgaaagAGAGGGAGACGGACGTCTCAATAAgtggcaagcgttAGATCGAGACCCGACGC chr15:79644891-Alternative-G;Patient-71 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Variant G atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GTCTATGGCGGT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgtctatggcggtAGATCGAGACCCGACGC chr15:80659705-Variant-G;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Variant G atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GTGCCGGCATAA CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgtgccggcataaAGATCGAGACCCGACGC chr15:80659705-Variant-G;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Variant G atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CGATTATCCGAT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAcgattatccgatAGATCGAGACCCGACGC chr15:80659705-Variant-G;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Variant G atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GGTTCGCGTCAT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAggttcgcgtcatAGATCGAGACCCGACGC chr15:80659705-Variant-G;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Reference T atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GAGGTAGATGCA CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgaggtagatgcaAGATCGAGACCCGACGC chr15:80659705-Reference-T;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Variant G atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GAGTGTATGGCG CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcGagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgagtgtatggcgAGATCGAGACCCGACGC chr15:80659705-Variant-G;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Reference T atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GTCAGACGACGA CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgtcagacgacgaAGATCGAGACCCGACGC chr15:80659705-Reference-T;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Reference T atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CTAAGGTGACTT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAActaaggtgacttAGATCGAGACCCGACGC chr15:80659705-Reference-T;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Reference T atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GAGATCGTGAGA CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgagatcgtgagaAGATCGAGACCCGACGC chr15:80659705-Reference-T;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative A atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GCCACCATAATT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgccaccataattAGATCGAGACCCGACGC chr15:80659705-Alternative-A;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative A atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CGTTCTTGTGCG CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAcgttcttgtgcgAGATCGAGACCCGACGC chr15:80659705-Alternative-A;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Reference T atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt AGTGCTCACGGT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcTagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAagtgctcacggtAGATCGAGACCCGACGC chr15:80659705-Reference-T;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative A atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt AATAAGACGGAG CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAaataagacggagAGATCGAGACCCGACGC chr15:80659705-Alternative-A;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative C atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt ATTATCGCAACG CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAattatcgcaacgAGATCGAGACCCGACGC chr15:80659705-Alternative-C;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative A atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CTACACCGTCGT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAActacaccgtcgtAGATCGAGACCCGACGC chr15:80659705-Alternative-A;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative C atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GGTGTATTGTGT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAggtgtattgtgtAGATCGAGACCCGACGC chr15:80659705-Alternative-C;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative C atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CTATGTAGGTGT CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAActatgtaggtgtAGATCGAGACCCGACGC chr15:80659705-Alternative-C;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative C atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt ACCTTCTACGAC CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAaccttctacgacAGATCGAGACCCGACGC chr15:80659705-Alternative-C;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative C atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt CGTACACGCTTC CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcCagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAcgtacacgcttcAGATCGAGACCCGACGC chr15:80659705-Alternative-C;Patient-37 chr15:80659705-TG Inherited Patient-37 intergenic 9.6e-05 0.00103 0.07 3.83 0.11 ARNT2 36986 Alternative A atagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggcctt GCGTCTAAGTTA CGACGCGGTCTCTCTCTatagggatcctctccatgaggcacattgtcgctcctttatagaaacactcAagcttcgtaattctccctttttgtgcccctctgctaaagaccaggccttAGAGGGAGACGGACGTCTCAATAAgcgtctaagttaAGATCGAGACCCGACGC chr15:80659705-Alternative-A;Patient-37 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Variant G agttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct ATCCGGCTAGCA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAatccggctagcaAGATCGAGACCCGACGC chr15:80704377-Variant-G;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative T agttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct ATAGCGGCAACG CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAatagcggcaacgAGATCGAGACCCGACGC chr15:80704377-Alternative-T;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative T agttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct ATCATCGAACAC CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAatcatcgaacacAGATCGAGACCCGACGC chr15:80704377-Alternative-T;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Reference A agttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct GATACAACGCAA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAgatacaacgcaaAGATCGAGACCCGACGC chr15:80704377-Reference-A;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative T agttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CAACCGCAGCAA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcaaccgcagcaaAGATCGAGACCCGACGC chr15:80704377-Alternative-T;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Variant G agttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct AGGCACGCATGA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAaggcacgcatgaAGATCGAGACCCGACGC chr15:80704377-Variant-G;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Variant G agttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct AGTAACCGGTTA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAagtaaccggttaAGATCGAGACCCGACGC chr15:80704377-Variant-G;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative T agttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct GTTCTGTCGTGC CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAgttctgtcgtgcAGATCGAGACCCGACGC chr15:80704377-Alternative-T;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Reference A agttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CGGTGCGTGATA CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcggtgcgtgataAGATCGAGACCCGACGC chr15:80704377-Reference-A;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative C agttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CGTTACCTATAC CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcgttacctatacAGATCGAGACCCGACGC chr15:80704377-Alternative-C;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Variant G agttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct AAGGCCGATCGT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAaaggccgatcgtAGATCGAGACCCGACGC chr15:80704377-Variant-G;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Reference A agttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct GAGTATGACGAT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAgagtatgacgatAGATCGAGACCCGACGC chr15:80704377-Reference-A;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Reference A agttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct GATGGAACAACT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAgatggaacaactAGATCGAGACCCGACGC chr15:80704377-Reference-A;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative C agttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct AGTCTATTGTGG CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAagtctattgtggAGATCGAGACCCGACGC chr15:80704377-Alternative-C;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative C agttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct ACGAGCAACACG CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAacgagcaacacgAGATCGAGACCCGACGC chr15:80704377-Alternative-C;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative T agttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CAGACGTAACGT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaTcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcagacgtaacgtAGATCGAGACCCGACGC chr15:80704377-Alternative-T;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Reference A agttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct AATGACTGCCGG CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaAcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAaatgactgccggAGATCGAGACCCGACGC chr15:80704377-Reference-A;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative C agttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CGAGCGGTATAC CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcgagcggtatacAGATCGAGACCCGACGC chr15:80704377-Alternative-C;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Alternative C agttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct CGGTCGTTAATT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaCcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAcggtcgttaattAGATCGAGACCCGACGC chr15:80704377-Alternative-C;Patient-7 chr15:80704377-AG DeNovo Patient-7 intronic ARNT2 NA 4.95e-05 -0.24 0.55 -3.79 ARNT2 7684 Variant G agttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccct GCGATCACGATT CGACGCGGTCTCTCTCTagttactgataagacagactccaggctggctttgagattcagccaccccaGcagcattcaggaaggcagcaacaaggtcaaaagatgcattcattgccctAGAGGGAGACGGACGTCTCAATAAgcgatcacgattAGATCGAGACCCGACGC chr15:80704377-Variant-G;Patient-7 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative A tggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata CTACGATAGCAT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAActacgatagcatAGATCGAGACCCGACGC chr15:80754583-Alternative-A;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Variant C tggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GTGCGAACACCA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgtgcgaacaccaAGATCGAGACCCGACGC chr15:80754583-Variant-C;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative A tggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata CTAATGAAGCGA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAActaatgaagcgaAGATCGAGACCCGACGC chr15:80754583-Alternative-A;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative A tggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GGCGACAGTACA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAggcgacagtacaAGATCGAGACCCGACGC chr15:80754583-Alternative-A;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative A tggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata CTTGCGGAGTAA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAActtgcggagtaaAGATCGAGACCCGACGC chr15:80754583-Alternative-A;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Reference T tggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GCCACGATGGAA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgccacgatggaaAGATCGAGACCCGACGC chr15:80754583-Reference-T;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Reference T tggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata CTGCTTGCGACT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAActgcttgcgactAGATCGAGACCCGACGC chr15:80754583-Reference-T;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Variant C tggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata AAGCAGACGAAG CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAaagcagacgaagAGATCGAGACCCGACGC chr15:80754583-Variant-C;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Variant C tggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GAATCGTCCTAA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgaatcgtcctaaAGATCGAGACCCGACGC chr15:80754583-Variant-C;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative A tggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata CATGCTTCTAAC CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaAaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAcatgcttctaacAGATCGAGACCCGACGC chr15:80754583-Alternative-A;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Reference T tggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata ACTATGCGGTCG CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAactatgcggtcgAGATCGAGACCCGACGC chr15:80754583-Reference-T;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative G tggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata ACATCGTGATAC CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAacatcgtgatacAGATCGAGACCCGACGC chr15:80754583-Alternative-G;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Reference T tggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata ATTAACGGCTGT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAattaacggctgtAGATCGAGACCCGACGC chr15:80754583-Reference-T;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Variant C tggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata AACGTACGACTT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAaacgtacgacttAGATCGAGACCCGACGC chr15:80754583-Variant-C;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative G tggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GCGCATGCTAGA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgcgcatgctagaAGATCGAGACCCGACGC chr15:80754583-Alternative-G;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Variant C tggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata AGTGATACCAAG CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaCaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAagtgataccaagAGATCGAGACCCGACGC chr15:80754583-Variant-C;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Reference T tggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GATACGTCGCGT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaTaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgatacgtcgcgtAGATCGAGACCCGACGC chr15:80754583-Reference-T;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative G tggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata ATAGTCCGGCGT CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAatagtccggcgtAGATCGAGACCCGACGC chr15:80754583-Alternative-G;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative G tggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata GAGTGTTCGCGA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAgagtgttcgcgaAGATCGAGACCCGACGC chr15:80754583-Alternative-G;Patient-80 chr15:80754583-TC DeNovo Patient-80 intronic ARNT2 9.6e-05 3.84e-05 0.1 4.26 -0.5 ARNT2 57890 Alternative G tggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaata AGTCTCGTGTAA CGACGCGGTCTCTCTCTtggacccttagattgatacattttctagggagttccaggacaccttctcaGaccggcagctggggtcagctgccaccagtacatggaggcatcttaaataAGAGGGAGACGGACGTCTCAATAAagtctcgtgtaaAGATCGAGACCCGACGC chr15:80754583-Alternative-G;Patient-80 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Reference G tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgat GACGGACAGTAA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgacggacagtaaAGATCGAGACCCGACGC chr15:81421613-Reference-G;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative T tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgat ACGTCCAATCGC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAacgtccaatcgcAGATCGAGACCCGACGC chr15:81421613-Alternative-T;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Variant A tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgat CGGATAGTTACA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAcggatagttacaAGATCGAGACCCGACGC chr15:81421613-Variant-A;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative T tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgat CTGTGCTGCCTA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAActgtgctgcctaAGATCGAGACCCGACGC chr15:81421613-Alternative-T;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative T tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgat ACATCTGCGTCG CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAacatctgcgtcgAGATCGAGACCCGACGC chr15:81421613-Alternative-T;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Variant A tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgat GCGTATGTCATT CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgcgtatgtcattAGATCGAGACCCGACGC chr15:81421613-Variant-A;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Variant A tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgat ACGGTGATTCTA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAacggtgattctaAGATCGAGACCCGACGC chr15:81421613-Variant-A;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative C tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgat GTAGTAGCCAAG CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgtagtagccaagAGATCGAGACCCGACGC chr15:81421613-Alternative-C;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Variant A tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgat CTAAGTGTAAGG CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAActaagtgtaaggAGATCGAGACCCGACGC chr15:81421613-Variant-A;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative C tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgat GTAGGATGTAAG CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgtaggatgtaagAGATCGAGACCCGACGC chr15:81421613-Alternative-C;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Variant A tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgat GAGGTGCGATGT CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaAcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgaggtgcgatgtAGATCGAGACCCGACGC chr15:81421613-Variant-A;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative C tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgat GCGGTGTTATGC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgcggtgttatgcAGATCGAGACCCGACGC chr15:81421613-Alternative-C;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative C tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgat ACATGCCATCGA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAacatgccatcgaAGATCGAGACCCGACGC chr15:81421613-Alternative-C;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Reference G tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgat GCGATTAGATGA CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgcgattagatgaAGATCGAGACCCGACGC chr15:81421613-Reference-G;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative T tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgat GATAATCCGCGC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgataatccgcgcAGATCGAGACCCGACGC chr15:81421613-Alternative-T;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Reference G tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgat CTGCTACCAACC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAActgctaccaaccAGATCGAGACCCGACGC chr15:81421613-Reference-G;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative C tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgat CTGCGACTGGAT CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaCcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAActgcgactggatAGATCGAGACCCGACGC chr15:81421613-Alternative-C;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Reference G tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgat GAATAACTGCGT CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAgaataactgcgtAGATCGAGACCCGACGC chr15:81421613-Reference-G;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Reference G tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgat ACTCCTCTCGTC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaGcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAactcctctcgtcAGATCGAGACCCGACGC chr15:81421613-Reference-G;Patient-89 chr15:81421613-GA DeNovo Patient-89 intergenic NA 0.000513 0.29 7.03 0.15 IL16 67606 Alternative T tcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgat CATGACTACGAC CGACGCGGTCTCTCTCTtcatccaggctttcttcttccagttatagagcacaggaaaagtagatttaTcataattcttaagggacctagtgtattattttgttttcatgctgctgatAGAGGGAGACGGACGTCTCAATAAcatgactacgacAGATCGAGACCCGACGC chr15:81421613-Alternative-T;Patient-89 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Variant T ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcac GTACACAGACGG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAgtacacagacggAGATCGAGACCCGACGC chr15:84144282-Variant-T;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative G ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcac AAGTCATACCAC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAaagtcataccacAGATCGAGACCCGACGC chr15:84144282-Alternative-G;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Variant T ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcac GGCACGTAACAC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAggcacgtaacacAGATCGAGACCCGACGC chr15:84144282-Variant-T;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Variant T ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcac GCGTACATTACG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAgcgtacattacgAGATCGAGACCCGACGC chr15:84144282-Variant-T;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative G ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcac CGGTAATCGGCA CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAcggtaatcggcaAGATCGAGACCCGACGC chr15:84144282-Alternative-G;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative G ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcac CTGGTCGTGAAC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAActggtcgtgaacAGATCGAGACCCGACGC chr15:84144282-Alternative-G;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Variant T ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcac ATCATAAGGACG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAatcataaggacgAGATCGAGACCCGACGC chr15:84144282-Variant-T;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative G ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcac CGTAAGCAACGG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAcgtaagcaacggAGATCGAGACCCGACGC chr15:84144282-Alternative-G;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative G ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcac GTAGCGAGATGC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcGttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAgtagcgagatgcAGATCGAGACCCGACGC chr15:84144282-Alternative-G;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Variant T ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcac ACCGAAGGCCAA CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcTttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAaccgaaggccaaAGATCGAGACCCGACGC chr15:84144282-Variant-T;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative C ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcac CGTTAACTTGTC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAcgttaacttgtcAGATCGAGACCCGACGC chr15:84144282-Alternative-C;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Reference A ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcac CTCGTGTATCAT CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAActcgtgtatcatAGATCGAGACCCGACGC chr15:84144282-Reference-A;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Reference A ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcac ACGTAGGACGAC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAacgtaggacgacAGATCGAGACCCGACGC chr15:84144282-Reference-A;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative C ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcac AGATCGGCGTCA CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAagatcggcgtcaAGATCGAGACCCGACGC chr15:84144282-Alternative-C;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative C ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcac GTCGTTGGATAT CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAgtcgttggatatAGATCGAGACCCGACGC chr15:84144282-Alternative-C;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative C ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcac GAGTACTACGCG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAgagtactacgcgAGATCGAGACCCGACGC chr15:84144282-Alternative-C;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Reference A ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcac ACAAGCATGAGT CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAacaagcatgagtAGATCGAGACCCGACGC chr15:84144282-Reference-A;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Reference A ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcac GGATCGAATATC CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAggatcgaatatcAGATCGAGACCCGACGC chr15:84144282-Reference-A;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Alternative C ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcac CAGGATTCTAGT CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcCttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAcaggattctagtAGATCGAGACCCGACGC chr15:84144282-Alternative-C;Patient-57 chr15:84144282-AT DeNovo Patient-57 intronic SH3GL3 3.2e-05 4.95e-05 0.36 7.92 0.21 SH3GL3 28190 Reference A ataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcac CGAACAGATAGG CGACGCGGTCTCTCTCTataaataaatcaataaataaaataaaataaaaaataaaaagttaactagcAttcctgaattttacccatcctggatctctgctattcacattggtgtcacAGAGGGAGACGGACGTCTCAATAAcgaacagataggAGATCGAGACCCGACGC chr15:84144282-Reference-A;Patient-57 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative G tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GTTCCACTAGCG CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAgttccactagcgAGATCGAGACCCGACGC chr15:85276601-Alternative-G;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative G tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat AGATGGTCAGGT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAagatggtcaggtAGATCGAGACCCGACGC chr15:85276601-Alternative-G;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative G tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ATAACGCCGCGA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAataacgccgcgaAGATCGAGACCCGACGC chr15:85276601-Alternative-G;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative G tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat CTGTCAACGCAG CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAActgtcaacgcagAGATCGAGACCCGACGC chr15:85276601-Alternative-G;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative G tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GGTGGACGGTTA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaGatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAggtggacggttaAGATCGAGACCCGACGC chr15:85276601-Alternative-G;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Reference T tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ATAGGTAGATGC CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAataggtagatgcAGATCGAGACCCGACGC chr15:85276601-Reference-T;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Reference T tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ACGCCGATTGGT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAacgccgattggtAGATCGAGACCCGACGC chr15:85276601-Reference-T;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Variant A tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat AAGCGTGGTGCA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAaagcgtggtgcaAGATCGAGACCCGACGC chr15:85276601-Variant-A;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Variant A tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GTTCAAGCGTCC CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAgttcaagcgtccAGATCGAGACCCGACGC chr15:85276601-Variant-A;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Variant A tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GGATCTTGGTCG CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAggatcttggtcgAGATCGAGACCCGACGC chr15:85276601-Variant-A;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative C tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat CGCATCTAAGAT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAcgcatctaagatAGATCGAGACCCGACGC chr15:85276601-Alternative-C;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Variant A tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GTCAACGAACGG CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAgtcaacgaacggAGATCGAGACCCGACGC chr15:85276601-Variant-A;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Reference T tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ATAAGCACCTAC CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAataagcacctacAGATCGAGACCCGACGC chr15:85276601-Reference-T;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Reference T tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GGAACGGCGTAA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAggaacggcgtaaAGATCGAGACCCGACGC chr15:85276601-Reference-T;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Reference T tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ACGCCGCTCTAA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaTatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAacgccgctctaaAGATCGAGACCCGACGC chr15:85276601-Reference-T;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative C tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat GAATATCGACCT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAgaatatcgacctAGATCGAGACCCGACGC chr15:85276601-Alternative-C;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative C tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat CATCACGCGCTA CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAcatcacgcgctaAGATCGAGACCCGACGC chr15:85276601-Alternative-C;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Variant A tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat ATAGCTAATCGC CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaAatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAatagctaatcgcAGATCGAGACCCGACGC chr15:85276601-Variant-A;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative C tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat CGGTAGGACGTT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAAcggtaggacgttAGATCGAGACCCGACGC chr15:85276601-Alternative-C;Patient-89 chr15:85276601-TA Inherited Patient-89 intergenic NA 0.000513 0.12 4.58 0.38 SEC11A 16909 Alternative C tgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtat CTCGCTGTACGT CGACGCGGTCTCTCTCTtgtgggaaggagaataattctaaataataaatgaacataaatcattagtaCatatgtttcttccaatcctttcttccttcctcggtgcggacagaagtatAGAGGGAGACGGACGTCTCAATAActcgctgtacgtAGATCGAGACCCGACGC chr15:85276601-Alternative-C;Patient-89 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Reference T tttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt CGTAGCTTCGTC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAcgtagcttcgtcAGATCGAGACCCGACGC chr15:85990731-Reference-T;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative A tttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgt AGTAACGCTCTA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAagtaacgctctaAGATCGAGACCCGACGC chr15:85990731-Alternative-A;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative A tttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgt GGAACCTGACCA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAggaacctgaccaAGATCGAGACCCGACGC chr15:85990731-Alternative-A;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Variant C tttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt CAACGATCTCAA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAcaacgatctcaaAGATCGAGACCCGACGC chr15:85990731-Variant-C;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Reference T tttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt AGCATGTTGAGA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAagcatgttgagaAGATCGAGACCCGACGC chr15:85990731-Reference-T;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Variant C tttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GACGCGTAGTCA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgacgcgtagtcaAGATCGAGACCCGACGC chr15:85990731-Variant-C;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative A tttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgt ACCTATCGATCG CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAacctatcgatcgAGATCGAGACCCGACGC chr15:85990731-Alternative-A;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Variant C tttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt AACGCGATGCCT CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAaacgcgatgcctAGATCGAGACCCGACGC chr15:85990731-Variant-C;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Variant C tttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt AAGACCACAGCG CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAaagaccacagcgAGATCGAGACCCGACGC chr15:85990731-Variant-C;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative A tttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgt GGTGGTAATCTT CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAggtggtaatcttAGATCGAGACCCGACGC chr15:85990731-Alternative-A;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Variant C tttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt AGTCGTTAACAC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaCcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAagtcgttaacacAGATCGAGACCCGACGC chr15:85990731-Variant-C;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative G tttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GTAACCATGGAA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgtaaccatggaaAGATCGAGACCCGACGC chr15:85990731-Alternative-G;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative G tttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GTATCCGGATCG CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgtatccggatcgAGATCGAGACCCGACGC chr15:85990731-Alternative-G;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative A tttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgt GATACGATACGA CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaActtttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgatacgatacgaAGATCGAGACCCGACGC chr15:85990731-Alternative-A;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Reference T tttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GGTTAATCTGGT CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAggttaatctggtAGATCGAGACCCGACGC chr15:85990731-Reference-T;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative G tttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt CTAGATCGCGTC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAActagatcgcgtcAGATCGAGACCCGACGC chr15:85990731-Alternative-G;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Reference T tttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GCACGGACATTC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgcacggacattcAGATCGAGACCCGACGC chr15:85990731-Reference-T;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative G tttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt GATACGTGAGCT CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAgatacgtgagctAGATCGAGACCCGACGC chr15:85990731-Alternative-G;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Alternative G tttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt AGATATGGATGC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaGcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAagatatggatgcAGATCGAGACCCGACGC chr15:85990731-Alternative-G;Patient-91 chr15:85990731-TC Inherited Patient-91 intronic AKAP13 NA 0.000159744 -0.09 1.47 -0.97 AKAP13 66883 Reference T tttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgt ACGCTTAGCGAC CGACGCGGTCTCTCTCTtttacatattattacatcacccaggtattaagttcagtacataatagttaTcttttctgctcctctccctcctcccccacccccaaatagaccccagtgtAGAGGGAGACGGACGTCTCAATAAacgcttagcgacAGATCGAGACCCGACGC chr15:85990731-Reference-T;Patient-91 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Reference A tcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagac GAGGTAGTATGT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgaggtagtatgtAGATCGAGACCCGACGC chr15:86386810-Reference-A;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative C tcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagac CAACCGACACAC CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAcaaccgacacacAGATCGAGACCCGACGC chr15:86386810-Alternative-C;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Variant G tcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagac ATTCTGTGCGCG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAattctgtgcgcgAGATCGAGACCCGACGC chr15:86386810-Variant-G;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Reference A tcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagac GTCTATGCTCAT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgtctatgctcatAGATCGAGACCCGACGC chr15:86386810-Reference-A;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Variant G tcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagac GAGGTTCCAGTC CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgaggttccagtcAGATCGAGACCCGACGC chr15:86386810-Variant-G;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative C tcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagac GATTGCTTCGTT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgattgcttcgttAGATCGAGACCCGACGC chr15:86386810-Alternative-C;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Reference A tcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagac ACCGACATAAGA CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAaccgacataagaAGATCGAGACCCGACGC chr15:86386810-Reference-A;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Variant G tcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagac GTATTAGACGTC CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgtattagacgtcAGATCGAGACCCGACGC chr15:86386810-Variant-G;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative T tcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagac AGAACCTTAGGT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAagaaccttaggtAGATCGAGACCCGACGC chr15:86386810-Alternative-T;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative C tcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagac CTTAGTACGCGG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAActtagtacgcggAGATCGAGACCCGACGC chr15:86386810-Alternative-C;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative T tcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagac AACAGCACATGA CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAaacagcacatgaAGATCGAGACCCGACGC chr15:86386810-Alternative-T;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Variant G tcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagac ATAAGCGTCAGT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAataagcgtcagtAGATCGAGACCCGACGC chr15:86386810-Variant-G;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative T tcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagac ACTTCCTCGGAG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAacttcctcggagAGATCGAGACCCGACGC chr15:86386810-Alternative-T;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative C tcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagac AGCGGCTATCAG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAagcggctatcagAGATCGAGACCCGACGC chr15:86386810-Alternative-C;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Reference A tcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagac AACTCTAAGTCG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAaactctaagtcgAGATCGAGACCCGACGC chr15:86386810-Reference-A;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Variant G tcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagac GCGATAGAGTAT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcGgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAgcgatagagtatAGATCGAGACCCGACGC chr15:86386810-Variant-G;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative T tcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagac CAGACGTATAAG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAcagacgtataagAGATCGAGACCCGACGC chr15:86386810-Alternative-T;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative C tcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagac AGTGTTCGAGAA CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcCgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAagtgttcgagaaAGATCGAGACCCGACGC chr15:86386810-Alternative-C;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Alternative T tcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagac CTGAAGTTGGTT CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcTgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAActgaagttggttAGATCGAGACCCGACGC chr15:86386810-Alternative-T;Patient-22 chr15:86386810-AG DeNovo Patient-22 intergenic NA 0.000513 0.31 7.37 0.05 KLHL25 48620 Reference A tcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagac ATACGTTCTTCG CGACGCGGTCTCTCTCTtcacaagatggtggctcttggggaagacactggctcacttacaggatggcAgctcttggggaagacactggctcacaagatgttgactcttggggaagacAGAGGGAGACGGACGTCTCAATAAatacgttcttcgAGATCGAGACCCGACGC chr15:86386810-Reference-A;Patient-22 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Reference G tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CACAACCTTAGT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcacaaccttagtAGATCGAGACCCGACGC chr15:88814850-Reference-G;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative T tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat AAGCGCGTACGA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAaagcgcgtacgaAGATCGAGACCCGACGC chr15:88814850-Alternative-T;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative T tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat AGCTATGCTCCT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAagctatgctcctAGATCGAGACCCGACGC chr15:88814850-Alternative-T;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative A tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CATAGCGCGAGT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcatagcgcgagtAGATCGAGACCCGACGC chr15:88814850-Alternative-A;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Reference G tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat ATCGCAGATCAA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAatcgcagatcaaAGATCGAGACCCGACGC chr15:88814850-Reference-G;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative T tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CATCAGATACAG CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcatcagatacagAGATCGAGACCCGACGC chr15:88814850-Alternative-T;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative T tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CTAACTGAAGCT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAActaactgaagctAGATCGAGACCCGACGC chr15:88814850-Alternative-T;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative T tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CAACGCTCTTCG CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagTctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcaacgctcttcgAGATCGAGACCCGACGC chr15:88814850-Alternative-T;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative A tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagat AAGCGTAGCCGA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAaagcgtagccgaAGATCGAGACCCGACGC chr15:88814850-Alternative-A;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative A tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CATCAATCTGCT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcatcaatctgctAGATCGAGACCCGACGC chr15:88814850-Alternative-A;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative A tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagat GCATAATGTTCG CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAgcataatgttcgAGATCGAGACCCGACGC chr15:88814850-Alternative-A;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Variant C tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CGTGCGAAGCTA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcgtgcgaagctaAGATCGAGACCCGACGC chr15:88814850-Variant-C;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Alternative A tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagat AACGGCCAGGAT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagActccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAaacggccaggatAGATCGAGACCCGACGC chr15:88814850-Alternative-A;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Variant C tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat GTCAGGTAACGG CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAgtcaggtaacggAGATCGAGACCCGACGC chr15:88814850-Variant-C;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Variant C tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat GGAACTACGCTT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAggaactacgcttAGATCGAGACCCGACGC chr15:88814850-Variant-C;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Variant C tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat AGTCGATTGCAT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAagtcgattgcatAGATCGAGACCCGACGC chr15:88814850-Variant-C;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Variant C tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat ATCCGGTTAACA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagCctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAatccggttaacaAGATCGAGACCCGACGC chr15:88814850-Variant-C;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Reference G tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CATGCCTCATGC CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcatgcctcatgcAGATCGAGACCCGACGC chr15:88814850-Reference-G;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Reference G tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat CATTAGCGTAGA CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAcattagcgtagaAGATCGAGACCCGACGC chr15:88814850-Reference-G;Patient-77 chr15:88814850-GC DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA NTRK3 14871 Reference G tgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagat GACAGTTGTGTT CGACGCGGTCTCTCTCTtgctcctcctgttcctcctctgtccagcaatggacagcccaaagcaccagGctccccatgtgagataagcagggagaaaatgccaggttaacttcaagatAGAGGGAGACGGACGTCTCAATAAgacagttgtgttAGATCGAGACCCGACGC chr15:88814850-Reference-G;Patient-77 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Variant G agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CGCGTAGAACAC CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAcgcgtagaacacAGATCGAGACCCGACGC chr15:89329633-Variant-G;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Variant G agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CTCTAAGGATCA CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAActctaaggatcaAGATCGAGACCCGACGC chr15:89329633-Variant-G;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Variant G agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa ACTAGTATGTCG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAactagtatgtcgAGATCGAGACCCGACGC chr15:89329633-Variant-G;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative T agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GGATGCCTGACT CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAggatgcctgactAGATCGAGACCCGACGC chr15:89329633-Alternative-T;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Variant G agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CGAGCGATCATT CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAcgagcgatcattAGATCGAGACCCGACGC chr15:89329633-Variant-G;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative C agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CGTTGATCCGTC CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAcgttgatccgtcAGATCGAGACCCGACGC chr15:89329633-Alternative-C;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Variant G agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CGTAGATTATCG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaGcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAcgtagattatcgAGATCGAGACCCGACGC chr15:89329633-Variant-G;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Reference A agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataa ACTTCGTTACCA CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAacttcgttaccaAGATCGAGACCCGACGC chr15:89329633-Reference-A;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative T agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CAACCAGCTAAC CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAcaaccagctaacAGATCGAGACCCGACGC chr15:89329633-Alternative-T;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative T agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa CTGCGTTCGGAA CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAActgcgttcggaaAGATCGAGACCCGACGC chr15:89329633-Alternative-T;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Reference A agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataa AGTCGCGCTAAG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAagtcgcgctaagAGATCGAGACCCGACGC chr15:89329633-Reference-A;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Reference A agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GATTACGATGAG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAgattacgatgagAGATCGAGACCCGACGC chr15:89329633-Reference-A;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Reference A agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GGAGATAAGCGG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAggagataagcggAGATCGAGACCCGACGC chr15:89329633-Reference-A;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative T agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GGCGGACTACTA CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAggcggactactaAGATCGAGACCCGACGC chr15:89329633-Alternative-T;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative T agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GGAATACCACTT CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaTcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAggaataccacttAGATCGAGACCCGACGC chr15:89329633-Alternative-T;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative C agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GCGAGGCAGTAT CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAgcgaggcagtatAGATCGAGACCCGACGC chr15:89329633-Alternative-C;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative C agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa GTACTCGGAAGG CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAgtactcggaaggAGATCGAGACCCGACGC chr15:89329633-Alternative-C;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Reference A agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataa ACTACCGTGTGC CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaActtgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAactaccgtgtgcAGATCGAGACCCGACGC chr15:89329633-Reference-A;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative C agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa AACTTCGGTTCA CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAaacttcggttcaAGATCGAGACCCGACGC chr15:89329633-Alternative-C;Patient-87 chr15:89329633-AG Inherited Patient-87 intergenic NA 0.000513 0 2.58 -0.83 ACAN 17040 Alternative C agaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataa AGCAGGTAACTT CGACGCGGTCTCTCTCTagaaccacacactcagagaaagtatttgcaatactcgtagtcaataaagaCcttgtatccaaaatataagaagagctcttaaagatcaacaagaagataaAGAGGGAGACGGACGTCTCAATAAagcaggtaacttAGATCGAGACCCGACGC chr15:89329633-Alternative-C;Patient-87 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Variant C ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtattt GAATGGATGCGA CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAgaatggatgcgaAGATCGAGACCCGACGC chr15:89446847-Variant-C;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Variant C ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CGGCGGTCAATA CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAcggcggtcaataAGATCGAGACCCGACGC chr15:89446847-Variant-C;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Variant C ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtattt GCAGGTATCTTA CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAgcaggtatcttaAGATCGAGACCCGACGC chr15:89446847-Variant-C;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative A ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtattt AGCGTTATAACG CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAagcgttataacgAGATCGAGACCCGACGC chr15:89446847-Alternative-A;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative A ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ATAGCGACGGAC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAatagcgacggacAGATCGAGACCCGACGC chr15:89446847-Alternative-A;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative A ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CGCGATACTCTT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAcgcgatactcttAGATCGAGACCCGACGC chr15:89446847-Alternative-A;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Variant C ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ACCTTGACTATC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAaccttgactatcAGATCGAGACCCGACGC chr15:89446847-Variant-C;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative G ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtattt GCAGTGATCAGT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAgcagtgatcagtAGATCGAGACCCGACGC chr15:89446847-Alternative-G;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Reference T ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CTCGTCTTGGAC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAActcgtcttggacAGATCGAGACCCGACGC chr15:89446847-Reference-T;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Variant C ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ACGACAGTACGC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagCagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAacgacagtacgcAGATCGAGACCCGACGC chr15:89446847-Variant-C;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative A ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtattt GCATGCCATAGT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAgcatgccatagtAGATCGAGACCCGACGC chr15:89446847-Alternative-A;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative G ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CGGTGGAGTAAC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAcggtggagtaacAGATCGAGACCCGACGC chr15:89446847-Alternative-G;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Reference T ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtattt GCGGTTAATAAC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAgcggttaataacAGATCGAGACCCGACGC chr15:89446847-Reference-T;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Reference T ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CTCTCGTGAACC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAActctcgtgaaccAGATCGAGACCCGACGC chr15:89446847-Reference-T;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Reference T ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CGTACATTCAAG CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAcgtacattcaagAGATCGAGACCCGACGC chr15:89446847-Reference-T;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Reference T ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtattt CTATTCGTTGGT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagTagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAActattcgttggtAGATCGAGACCCGACGC chr15:89446847-Reference-T;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative A ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ACGTGCTACGCA CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagAagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAacgtgctacgcaAGATCGAGACCCGACGC chr15:89446847-Alternative-A;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative G ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtattt AGTAAGTTCGCT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAagtaagttcgctAGATCGAGACCCGACGC chr15:89446847-Alternative-G;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative G ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ATTGAAGCGAGT CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAattgaagcgagtAGATCGAGACCCGACGC chr15:89446847-Alternative-G;Patient-35 chr15:89446847-TC DeNovo Patient-35 intronic MFGE8 NA 4.95e-05 0.11 4.37 0.19 MFGE8 9815 Alternative G ctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtattt ACGACACGGTTC CGACGCGGTCTCTCTCTctccaccttctgaccgggttcaggcaattatcctgcctcagcctccctagGagctgggattacaggcacctgccaccacgcctggctaatttttgtatttAGAGGGAGACGGACGTCTCAATAAacgacacggttcAGATCGAGACCCGACGC chr15:89446847-Alternative-G;Patient-35 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Variant C tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc AAGATCGAGCTA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAaagatcgagctaAGATCGAGACCCGACGC chr15:89963393-Variant-C;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Variant C tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc AAGATTGCCGGC CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAaagattgccggcAGATCGAGACCCGACGC chr15:89963393-Variant-C;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative G tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GCATGTTCGAGA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgcatgttcgagaAGATCGAGACCCGACGC chr15:89963393-Alternative-G;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative G tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc CAAGACCTGGAT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAcaagacctggatAGATCGAGACCCGACGC chr15:89963393-Alternative-G;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative A tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc AGCCGCAATTAA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAagccgcaattaaAGATCGAGACCCGACGC chr15:89963393-Alternative-A;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative G tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GACCACAATAAG CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgaccacaataagAGATCGAGACCCGACGC chr15:89963393-Alternative-G;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative G tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc ACTCTTACGACC CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAactcttacgaccAGATCGAGACCCGACGC chr15:89963393-Alternative-G;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Variant C tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc CTATTCGTCGAT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAActattcgtcgatAGATCGAGACCCGACGC chr15:89963393-Variant-C;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative G tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GCACCACATTCG CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttGggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgcaccacattcgAGATCGAGACCCGACGC chr15:89963393-Alternative-G;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative A tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc ATTCGCTGTTCA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAattcgctgttcaAGATCGAGACCCGACGC chr15:89963393-Alternative-A;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative A tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GGTAAGCATAAC CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAggtaagcataacAGATCGAGACCCGACGC chr15:89963393-Alternative-A;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Variant C tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GTTCGATTCGTT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgttcgattcgttAGATCGAGACCCGACGC chr15:89963393-Variant-C;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Variant C tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc CTCTCTCAATGT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttCggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAActctctcaatgtAGATCGAGACCCGACGC chr15:89963393-Variant-C;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative A tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GTTGATGGCACA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgttgatggcacaAGATCGAGACCCGACGC chr15:89963393-Alternative-A;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Reference T tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc ACGTCTGGCGTT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAacgtctggcgttAGATCGAGACCCGACGC chr15:89963393-Reference-T;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Alternative A tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GTAAGCCGTAGG CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttAggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAgtaagccgtaggAGATCGAGACCCGACGC chr15:89963393-Alternative-A;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Reference T tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc CTGTCGTCACGT CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAActgtcgtcacgtAGATCGAGACCCGACGC chr15:89963393-Reference-T;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Reference T tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc CTCTCGCTTGTC CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAActctcgcttgtcAGATCGAGACCCGACGC chr15:89963393-Reference-T;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Reference T tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc ATACAATGGACG CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAatacaatggacgAGATCGAGACCCGACGC chr15:89963393-Reference-T;Patient-18 chr15:89963393-TC DeNovo Patient-18 intergenic NA 0.000513 -0.03 2.18 -3.04 POLG 85366 Reference T tggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatc GGCACCTATTAA CGACGCGGTCTCTCTCTtggagtttctgtttcctgaactgggaaagactgaaggaggagcagagtttTggggatggggagctgaggctgtttctgaacaagttaagtttgagagatcAGAGGGAGACGGACGTCTCAATAAggcacctattaaAGATCGAGACCCGACGC chr15:89963393-Reference-T;Patient-18 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative G aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaa GGTGACGACTTC CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggtgacgacttcAGATCGAGACCCGACGC chr15:89997624-Alternative-G;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative G aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaa GGAGAATCAACT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggagaatcaactAGATCGAGACCCGACGC chr15:89997624-Alternative-G;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative G aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaa GGACGAGTAATT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggacgagtaattAGATCGAGACCCGACGC chr15:89997624-Alternative-G;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative G aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaa AATAGGCTCTGT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAaataggctctgtAGATCGAGACCCGACGC chr15:89997624-Alternative-G;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Reference T aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaa AGCATCCGGCTA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAagcatccggctaAGATCGAGACCCGACGC chr15:89997624-Reference-T;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Reference T aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaa GGTGCGGTACTA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggtgcggtactaAGATCGAGACCCGACGC chr15:89997624-Reference-T;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Reference T aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaa GTCGGCAATTGC CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgtcggcaattgcAGATCGAGACCCGACGC chr15:89997624-Reference-T;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Reference T aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaa GTCATCGGAATT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgtcatcggaattAGATCGAGACCCGACGC chr15:89997624-Reference-T;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Variant C aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaa CGGCAGATAGCA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAcggcagatagcaAGATCGAGACCCGACGC chr15:89997624-Variant-C;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative G aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaa ACGCATCTGGAT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataGacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAacgcatctggatAGATCGAGACCCGACGC chr15:89997624-Alternative-G;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Variant C aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaa AGTAGGTATGCA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAagtaggtatgcaAGATCGAGACCCGACGC chr15:89997624-Variant-C;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Reference T aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaa GCGGTTGGTAGT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataTacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgcggttggtagtAGATCGAGACCCGACGC chr15:89997624-Reference-T;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Variant C aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaa CGATTGCTGCCT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAcgattgctgcctAGATCGAGACCCGACGC chr15:89997624-Variant-C;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative A aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaa GATAGGATTACG CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgataggattacgAGATCGAGACCCGACGC chr15:89997624-Alternative-A;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative A aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaa ACGTGATCACAT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAacgtgatcacatAGATCGAGACCCGACGC chr15:89997624-Alternative-A;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Variant C aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaa CGGAGAACGCTA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAcggagaacgctaAGATCGAGACCCGACGC chr15:89997624-Variant-C;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative A aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaa GAAGTGATAGTC CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgaagtgatagtcAGATCGAGACCCGACGC chr15:89997624-Alternative-A;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative A aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaa GATAAGCGAGAA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAgataagcgagaaAGATCGAGACCCGACGC chr15:89997624-Alternative-A;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Alternative A aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaa GGCTGAAGCTGA CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataAacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggctgaagctgaAGATCGAGACCCGACGC chr15:89997624-Alternative-A;Patient-57 chr15:89997624-TC DeNovo Patient-57 intergenic 0.000141 0.000513 -0.29 0.4 -1.15 RHCG 42174 Variant C aaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaa GGCTAGGAGGTT CGACGCGGTCTCTCTCTaaaaaaaaaaagactctagaactaaaatgaaaccaacatatatatatataCacacatatatatatacatacacacatatagatatataatttcacttaaaAGAGGGAGACGGACGTCTCAATAAggctaggaggttAGATCGAGACCCGACGC chr15:89997624-Variant-C;Patient-57 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Variant C ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GCGTCCTATGCT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgcgtcctatgctAGATCGAGACCCGACGC chr15:90959059-Variant-C;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Variant C ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct AGTCGTGTTCAA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAagtcgtgttcaaAGATCGAGACCCGACGC chr15:90959059-Variant-C;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Variant C ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GACTGATTGGTT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgactgattggttAGATCGAGACCCGACGC chr15:90959059-Variant-C;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Variant C ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct ATAGTACGACGA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAatagtacgacgaAGATCGAGACCCGACGC chr15:90959059-Variant-C;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Variant C ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GGTACCTCATAA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatCctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAggtacctcataaAGATCGAGACCCGACGC chr15:90959059-Variant-C;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative A ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggct CTCGTCCAATGT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAActcgtccaatgtAGATCGAGACCCGACGC chr15:90959059-Alternative-A;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative A ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggct AAGGTAGCCGAC CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAaaggtagccgacAGATCGAGACCCGACGC chr15:90959059-Alternative-A;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Reference G ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct CTTACCAACGTT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAActtaccaacgttAGATCGAGACCCGACGC chr15:90959059-Reference-G;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Reference G ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GCAGTATGCCGT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgcagtatgccgtAGATCGAGACCCGACGC chr15:90959059-Reference-G;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Reference G ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct CAAGCTGCCACA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAcaagctgccacaAGATCGAGACCCGACGC chr15:90959059-Reference-G;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative T ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GTATCGCCTTCG CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgtatcgccttcgAGATCGAGACCCGACGC chr15:90959059-Alternative-T;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Reference G ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GTAGTGGAATGT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgtagtggaatgtAGATCGAGACCCGACGC chr15:90959059-Reference-G;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Reference G ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GCGTTGATCGTC CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatGctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgcgttgatcgtcAGATCGAGACCCGACGC chr15:90959059-Reference-G;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative A ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GCAGCTACGCAA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgcagctacgcaaAGATCGAGACCCGACGC chr15:90959059-Alternative-A;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative T ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct ACGCGCTTAACG CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAacgcgcttaacgAGATCGAGACCCGACGC chr15:90959059-Alternative-T;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative T ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct CGCGTCGAAGAA CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAcgcgtcgaagaaAGATCGAGACCCGACGC chr15:90959059-Alternative-T;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative T ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct ACGCTATGGATT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAacgctatggattAGATCGAGACCCGACGC chr15:90959059-Alternative-T;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative T ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggct ACAACATGACCG CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatTctgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAacaacatgaccgAGATCGAGACCCGACGC chr15:90959059-Alternative-T;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative A ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggct GCGGTGTAATAT CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAgcggtgtaatatAGATCGAGACCCGACGC chr15:90959059-Alternative-A;Patient-30 chr15:90959059-GC Inherited Patient-30 intronic IQGAP1 3.2e-05 4.95e-05 NA NA NA IQGAP1 27585 Alternative A ggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggct ATCCGGTTGCAC CGACGCGGTCTCTCTCTggattaccgaaatgtttgcctgatatttctcccttgaatctgtcgtccatActgctgtccaagttctccttctaagtctacttgaaaacctcccatggctAGAGGGAGACGGACGTCTCAATAAatccggttgcacAGATCGAGACCCGACGC chr15:90959059-Alternative-A;Patient-30 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Reference C gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CTGCTCACCTTC CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAActgctcaccttcAGATCGAGACCCGACGC chr15:91506470-Reference-C;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Reference C gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GGCTTGGATGCT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAggcttggatgctAGATCGAGACCCGACGC chr15:91506470-Reference-C;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Reference C gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg AGATAGCGTGCT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAagatagcgtgctAGATCGAGACCCGACGC chr15:91506470-Reference-C;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Reference C gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GGTCGATTCCTA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAggtcgattcctaAGATCGAGACCCGACGC chr15:91506470-Reference-C;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Reference C gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GACGGTTGTAAT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactCgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAgacggttgtaatAGATCGAGACCCGACGC chr15:91506470-Reference-C;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative G gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GGCGCTAGGTAA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAggcgctaggtaaAGATCGAGACCCGACGC chr15:91506470-Alternative-G;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Variant T gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg AGCTCGGTTGGT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAagctcggttggtAGATCGAGACCCGACGC chr15:91506470-Variant-T;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative G gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg AACGATCTTGCA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAaacgatcttgcaAGATCGAGACCCGACGC chr15:91506470-Alternative-G;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Variant T gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CGTTGTTGGCGT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcgttgttggcgtAGATCGAGACCCGACGC chr15:91506470-Variant-T;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative A gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GCAGACTAACTT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAgcagactaacttAGATCGAGACCCGACGC chr15:91506470-Alternative-A;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative A gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CGGCGACATGTT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcggcgacatgttAGATCGAGACCCGACGC chr15:91506470-Alternative-A;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative G gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CACTATACCGGC CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcactataccggcAGATCGAGACCCGACGC chr15:91506470-Alternative-G;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Variant T gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg ATCGTATCCAAG CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAatcgtatccaagAGATCGAGACCCGACGC chr15:91506470-Variant-T;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Variant T gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CATAGAGCAACA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcatagagcaacaAGATCGAGACCCGACGC chr15:91506470-Variant-T;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative G gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CGATAATTCCGA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcgataattccgaAGATCGAGACCCGACGC chr15:91506470-Alternative-G;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative G gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GATTCCGGTGGT CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactGgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAgattccggtggtAGATCGAGACCCGACGC chr15:91506470-Alternative-G;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative A gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CAATATTCGGCA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcaatattcggcaAGATCGAGACCCGACGC chr15:91506470-Alternative-A;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Variant T gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg CAATTAGCGGAG CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactTgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAcaattagcggagAGATCGAGACCCGACGC chr15:91506470-Variant-T;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative A gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GACATAACTGAG CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAgacataactgagAGATCGAGACCCGACGC chr15:91506470-Alternative-A;Patient-100 chr15:91506470-CT DeNovo Patient-100 intergenic NA 3.91e-05 -0.36 0.24 -1.13 HDDC3 30695 Alternative A gaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctg GTGCTTCGGCAA CGACGCGGTCTCTCTCTgaactttttcatcattctatgctgaaactctgtgcattaaacacttaactAgtcagtctccccttccccagccccaggcaaccacagtcctaaccttctgAGAGGGAGACGGACGTCTCAATAAgtgcttcggcaaAGATCGAGACCCGACGC chr15:91506470-Alternative-A;Patient-100 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative A acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat GGCCGTGTACTT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAggccgtgtacttAGATCGAGACCCGACGC chr15:91631818-Alternative-A;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative A acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CGATGGAATTCT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcgatggaattctAGATCGAGACCCGACGC chr15:91631818-Alternative-A;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Variant T acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CGTGCGGACATA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcgtgcggacataAGATCGAGACCCGACGC chr15:91631818-Variant-T;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Reference C acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CAATTGAGGCTA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcaattgaggctaAGATCGAGACCCGACGC chr15:91631818-Reference-C;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Variant T acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AACGTGTCACTA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAaacgtgtcactaAGATCGAGACCCGACGC chr15:91631818-Variant-T;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Reference C acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat GACCGGAGGTTA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAgaccggaggttaAGATCGAGACCCGACGC chr15:91631818-Reference-C;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Variant T acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat ATATGCTTGACG CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAatatgcttgacgAGATCGAGACCCGACGC chr15:91631818-Variant-T;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Reference C acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CTCTTACGCGCA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAActcttacgcgcaAGATCGAGACCCGACGC chr15:91631818-Reference-C;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Variant T acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CGAAGGTCGTGA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcgaaggtcgtgaAGATCGAGACCCGACGC chr15:91631818-Variant-T;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Variant T acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CACAACGGATGG CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatTttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcacaacggatggAGATCGAGACCCGACGC chr15:91631818-Variant-T;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative A acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat GATTGGACACTT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAgattggacacttAGATCGAGACCCGACGC chr15:91631818-Alternative-A;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative G acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat GAGATCTGGAGA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAgagatctggagaAGATCGAGACCCGACGC chr15:91631818-Alternative-G;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Reference C acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AGACGAACGACT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAagacgaacgactAGATCGAGACCCGACGC chr15:91631818-Reference-C;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Reference C acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AATGTCGGACTT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatCttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAaatgtcggacttAGATCGAGACCCGACGC chr15:91631818-Reference-C;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative G acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AACACGACAACA CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAaacacgacaacaAGATCGAGACCCGACGC chr15:91631818-Alternative-G;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative A acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat CGACTTCGGTCT CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAcgacttcggtctAGATCGAGACCCGACGC chr15:91631818-Alternative-A;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative G acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat ATTGTACGTTCG CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAattgtacgttcgAGATCGAGACCCGACGC chr15:91631818-Alternative-G;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative G acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AGAACCTGACCG CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAagaacctgaccgAGATCGAGACCCGACGC chr15:91631818-Alternative-G;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative A acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat GTTGGTCTGAAC CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatAttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAgttggtctgaacAGATCGAGACCCGACGC chr15:91631818-Alternative-A;Patient-88 chr15:91631818-CT DeNovo Patient-88 intergenic 0.000669 0.00564 -0.04 2.11 0.6 SV2B 11363 Alternative G acccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtat AGTTCGACCAGG CGACGCGGTCTCTCTCTacccttaaaacatcacctgttctgtgaagacttctgtgaggcaggcttatGttctctgtgcttcatctgaacttatgtgaggtagtggttttgaaagtatAGAGGGAGACGGACGTCTCAATAAagttcgaccaggAGATCGAGACCCGACGC chr15:91631818-Alternative-G;Patient-88 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative C ccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GATTGCGACAGG CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAgattgcgacaggAGATCGAGACCCGACGC chr15:91708806-Alternative-C;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative C ccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga ACGAATTGCCTA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAacgaattgcctaAGATCGAGACCCGACGC chr15:91708806-Alternative-C;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative C ccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga ACGTCGAGTACA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAacgtcgagtacaAGATCGAGACCCGACGC chr15:91708806-Alternative-C;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative C ccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GCAACGCTTCGA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAgcaacgcttcgaAGATCGAGACCCGACGC chr15:91708806-Alternative-C;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative C ccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGCTGAAGGAGA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagCgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggctgaaggagaAGATCGAGACCCGACGC chr15:91708806-Alternative-C;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative A ccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGATAGGTAGTT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggataggtagttAGATCGAGACCCGACGC chr15:91708806-Alternative-A;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative A ccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga CATCGTCTTCTT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAcatcgtcttcttAGATCGAGACCCGACGC chr15:91708806-Alternative-A;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative A ccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga AACTCTCGTTCA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAaactctcgttcaAGATCGAGACCCGACGC chr15:91708806-Alternative-A;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Reference G ccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GATGGTTCCAAG CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAgatggttccaagAGATCGAGACCCGACGC chr15:91708806-Reference-G;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative A ccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga CTTGATGACCGG CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAActtgatgaccggAGATCGAGACCCGACGC chr15:91708806-Alternative-A;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Reference G ccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGCTTGACTGGT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggcttgactggtAGATCGAGACCCGACGC chr15:91708806-Reference-G;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Variant T ccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGATCCATTGAA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggatccattgaaAGATCGAGACCCGACGC chr15:91708806-Variant-T;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Reference G ccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga CACTTAGAGTCA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAcacttagagtcaAGATCGAGACCCGACGC chr15:91708806-Reference-G;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Reference G ccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GAGGTTCAGATA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAgaggttcagataAGATCGAGACCCGACGC chr15:91708806-Reference-G;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Alternative A ccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga ATCAAGCGCATT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagAgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAatcaagcgcattAGATCGAGACCCGACGC chr15:91708806-Alternative-A;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Reference G ccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga CTCGTGGACAGT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagGgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAActcgtggacagtAGATCGAGACCCGACGC chr15:91708806-Reference-G;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Variant T ccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGTGCGGTAAGA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggtgcggtaagaAGATCGAGACCCGACGC chr15:91708806-Variant-T;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Variant T ccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GGCTTAGATCTA CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAggcttagatctaAGATCGAGACCCGACGC chr15:91708806-Variant-T;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Variant T ccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga GATTCGTCAAGT CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAgattcgtcaagtAGATCGAGACCCGACGC chr15:91708806-Variant-T;Patient-25 chr15:91708806-GT DeNovo Patient-25 intronic SV2B NA 0.00016 -0.15 0.98 0.24 SV2B 65623 Variant T ccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttga CGTACCAATGAG CGACGCGGTCTCTCTCTccatttaatataaagaacttgagcatctgtggattttggtatccacggagTgtgtcctagaactaatcctctatgaattctgaggaatgactatatttgaAGAGGGAGACGGACGTCTCAATAAcgtaccaatgagAGATCGAGACCCGACGC chr15:91708806-Variant-T;Patient-25 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative T ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat AATACTTGCGGT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAaatacttgcggtAGATCGAGACCCGACGC chr15:91734483-Alternative-T;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative T ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CTTACGTTAACC CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAActtacgttaaccAGATCGAGACCCGACGC chr15:91734483-Alternative-T;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative T ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CAGACAATGCTT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcagacaatgcttAGATCGAGACCCGACGC chr15:91734483-Alternative-T;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative T ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat GGAAGTTCCATT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAggaagttccattAGATCGAGACCCGACGC chr15:91734483-Alternative-T;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative T ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGGAGCCTTGAT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaTttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcggagccttgatAGATCGAGACCCGACGC chr15:91734483-Alternative-T;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Variant G ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat AATAGCGGTAAC CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAaatagcggtaacAGATCGAGACCCGACGC chr15:91734483-Variant-G;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Variant G ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat GATCGCTTCGTC CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAgatcgcttcgtcAGATCGAGACCCGACGC chr15:91734483-Variant-G;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Variant G ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CTGAGTTCAAGT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAActgagttcaagtAGATCGAGACCCGACGC chr15:91734483-Variant-G;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Variant G ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGATGAGTCATA CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcgatgagtcataAGATCGAGACCCGACGC chr15:91734483-Variant-G;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Variant G ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGATATACCAAC CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaGttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcgatataccaacAGATCGAGACCCGACGC chr15:91734483-Variant-G;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Reference A ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat ATATGAGCCACT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAatatgagccactAGATCGAGACCCGACGC chr15:91734483-Reference-A;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Reference A ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat ACCGATCTCACG CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAaccgatctcacgAGATCGAGACCCGACGC chr15:91734483-Reference-A;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Reference A ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat GTGTTACGCACG CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAgtgttacgcacgAGATCGAGACCCGACGC chr15:91734483-Reference-A;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Reference A ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat GGACACAGGTGT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAggacacaggtgtAGATCGAGACCCGACGC chr15:91734483-Reference-A;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative C ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGGCTGTAGTCT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcggctgtagtctAGATCGAGACCCGACGC chr15:91734483-Alternative-C;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative C ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGAACGATGCCT CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcgaacgatgcctAGATCGAGACCCGACGC chr15:91734483-Alternative-C;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative C ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat ACTCGGAAGGAC CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAactcggaaggacAGATCGAGACCCGACGC chr15:91734483-Alternative-C;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative C ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat CGGATTAAGACA CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAcggattaagacaAGATCGAGACCCGACGC chr15:91734483-Alternative-C;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Reference A ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat ACAGAGGTGGAG CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaAttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAacagaggtggagAGATCGAGACCCGACGC chr15:91734483-Reference-A;Patient-30 chr15:91734483-AG Inherited Patient-30 intronic SV2B NA 0.00016 NA NA NA SV2B 91300 Alternative C ttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaat ACGTTAGGAACA CGACGCGGTCTCTCTCTttacaggcactggccaccacacccagctaatttttgtatttttagtttcaCttgacaaaaactccctctttgatcaaactttgtacaggctcctagtaatAGAGGGAGACGGACGTCTCAATAAacgttaggaacaAGATCGAGACCCGACGC chr15:91734483-Alternative-C;Patient-30 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative T tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga AGCCTGATTCAA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAagcctgattcaaAGATCGAGACCCGACGC chr15:93730801-Alternative-T;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative T tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CTAACTCGTGGT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAActaactcgtggtAGATCGAGACCCGACGC chr15:93730801-Alternative-T;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Variant G tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga AACCGCTGAAGG CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAaaccgctgaaggAGATCGAGACCCGACGC chr15:93730801-Variant-G;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative T tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga AAGCGGTCGTGT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAaagcggtcgtgtAGATCGAGACCCGACGC chr15:93730801-Alternative-T;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Reference A tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga AGCTATGTATCG CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAagctatgtatcgAGATCGAGACCCGACGC chr15:93730801-Reference-A;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Variant G tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CAGGCGAATATT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcaggcgaatattAGATCGAGACCCGACGC chr15:93730801-Variant-G;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Variant G tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga ATCGAGCGACCT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAatcgagcgacctAGATCGAGACCCGACGC chr15:93730801-Variant-G;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Variant G tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CAGCTAACGAAG CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcagctaacgaagAGATCGAGACCCGACGC chr15:93730801-Variant-G;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Reference A tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga GAGCATCTAAGA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAgagcatctaagaAGATCGAGACCCGACGC chr15:93730801-Reference-A;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Variant G tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CATGTTCTAGCT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcGccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcatgttctagctAGATCGAGACCCGACGC chr15:93730801-Variant-G;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Reference A tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga GATCGTCGAGCT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAgatcgtcgagctAGATCGAGACCCGACGC chr15:93730801-Reference-A;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative C tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga AGCGCGAATATA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAagcgcgaatataAGATCGAGACCCGACGC chr15:93730801-Alternative-C;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative T tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga ACGCGGTATTCG CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAacgcggtattcgAGATCGAGACCCGACGC chr15:93730801-Alternative-T;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative T tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga GATGTCGGCTGT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcTccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAgatgtcggctgtAGATCGAGACCCGACGC chr15:93730801-Alternative-T;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative C tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CTATCGAAGCTA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAActatcgaagctaAGATCGAGACCCGACGC chr15:93730801-Alternative-C;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Reference A tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CATTCGACTCTA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcattcgactctaAGATCGAGACCCGACGC chr15:93730801-Reference-A;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Reference A tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CACACAACTAAC CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcAccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcacacaactaacAGATCGAGACCCGACGC chr15:93730801-Reference-A;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative C tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CAGTCGAAGGAC CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcagtcgaaggacAGATCGAGACCCGACGC chr15:93730801-Alternative-C;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative C tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga CGGCAACTGCAT CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAcggcaactgcatAGATCGAGACCCGACGC chr15:93730801-Alternative-C;Patient-85 chr15:93730801-AG Inherited Patient-85 intergenic 0.000605 0.00103 -0.02 2.39 -1.36 RGMA 98367 Alternative C tgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgatagga ACTAGTGGAACA CGACGCGGTCTCTCTCTtgggtgttaggaatcagccttcacagtgctttggagaacgggtgcaatgcCccttggagaaccgtgcatttgagaaccttggtcacatggcttgataggaAGAGGGAGACGGACGTCTCAATAAactagtggaacaAGATCGAGACCCGACGC chr15:93730801-Alternative-C;Patient-85 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Variant C ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GGCTATCGTCGA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAggctatcgtcgaAGATCGAGACCCGACGC chr15:93732002-Variant-C;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Variant C ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GCGTACGAGCTA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgcgtacgagctaAGATCGAGACCCGACGC chr15:93732002-Variant-C;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative A ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgttta ACCTTAGATGGT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAaccttagatggtAGATCGAGACCCGACGC chr15:93732002-Alternative-A;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative A ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GACTAGTAAGCA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgactagtaagcaAGATCGAGACCCGACGC chr15:93732002-Alternative-A;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative G ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GTAGTCGCGCTA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgtagtcgcgctaAGATCGAGACCCGACGC chr15:93732002-Alternative-G;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative G ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgttta ATTATGCGATGG CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAattatgcgatggAGATCGAGACCCGACGC chr15:93732002-Alternative-G;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative G ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgttta ATATAGAGTGCG CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAatatagagtgcgAGATCGAGACCCGACGC chr15:93732002-Alternative-G;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Variant C ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GTGGCGTATAAT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgtggcgtataatAGATCGAGACCCGACGC chr15:93732002-Variant-C;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative A ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgttta ATCCTACAAGGT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAatcctacaaggtAGATCGAGACCCGACGC chr15:93732002-Alternative-A;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Reference T ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GGCTCACACGAT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAggctcacacgatAGATCGAGACCCGACGC chr15:93732002-Reference-T;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Reference T ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GAGATCGACGAC CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgagatcgacgacAGATCGAGACCCGACGC chr15:93732002-Reference-T;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative G ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgttta CGGTATCTATCA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAcggtatctatcaAGATCGAGACCCGACGC chr15:93732002-Alternative-G;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative G ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgttta CGTGTTGGACAC CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttGagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAcgtgttggacacAGATCGAGACCCGACGC chr15:93732002-Alternative-G;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Variant C ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GTCTCTTAACGA CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgtctcttaacgaAGATCGAGACCCGACGC chr15:93732002-Variant-C;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Reference T ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgttta CGATCAACCGAC CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAcgatcaaccgacAGATCGAGACCCGACGC chr15:93732002-Reference-T;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Reference T ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgttta AGACGGTGACAT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAagacggtgacatAGATCGAGACCCGACGC chr15:93732002-Reference-T;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative A ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GTCGTTGACGGT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgtcgttgacggtAGATCGAGACCCGACGC chr15:93732002-Alternative-A;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Variant C ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgttta CGGAGATCATCG CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttCagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAcggagatcatcgAGATCGAGACCCGACGC chr15:93732002-Variant-C;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Reference T ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgttta CATCTAGGCGTC CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttTagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAcatctaggcgtcAGATCGAGACCCGACGC chr15:93732002-Reference-T;Patient-21 chr15:93732002-TC DeNovo Patient-21 intergenic NA 0.000513 0.1 4.19 -3.82 RGMA 99568 Alternative A ctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgttta GACCGAGAATAT CGACGCGGTCTCTCTCTctatgatttcagactgctgctggtagtgtatttcttgagttccagtctttAagatgagtggcatttgtttcagatgttgagataattaaagaattgtttaAGAGGGAGACGGACGTCTCAATAAgaccgagaatatAGATCGAGACCCGACGC chr15:93732002-Alternative-A;Patient-21 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Variant C tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACGAACAGTAGG CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAacgaacagtaggAGATCGAGACCCGACGC chr15:94815079-Variant-C;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Variant C tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc AGCTCGTCACAG CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAagctcgtcacagAGATCGAGACCCGACGC chr15:94815079-Variant-C;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative A tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACCTACGCACGA CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAacctacgcacgaAGATCGAGACCCGACGC chr15:94815079-Alternative-A;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Variant C tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACACAGCTCGCA CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAacacagctcgcaAGATCGAGACCCGACGC chr15:94815079-Variant-C;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Variant C tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACCAAGTATCCT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAaccaagtatcctAGATCGAGACCCGACGC chr15:94815079-Variant-C;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Variant C tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc GAGGTTGGATCG CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtCctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAgaggttggatcgAGATCGAGACCCGACGC chr15:94815079-Variant-C;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative G tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc GGATCTAGGATA CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAggatctaggataAGATCGAGACCCGACGC chr15:94815079-Alternative-G;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Reference T tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CTTGCCTCTCGT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAActtgcctctcgtAGATCGAGACCCGACGC chr15:94815079-Reference-T;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative G tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACGTTGGCGAAC CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAacgttggcgaacAGATCGAGACCCGACGC chr15:94815079-Alternative-G;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Reference T tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc GTACTATAGCCA CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAgtactatagccaAGATCGAGACCCGACGC chr15:94815079-Reference-T;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative G tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CAGTTGTGTTCT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAcagttgtgttctAGATCGAGACCCGACGC chr15:94815079-Alternative-G;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative A tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatcc AGAAGTGCGCAT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAagaagtgcgcatAGATCGAGACCCGACGC chr15:94815079-Alternative-A;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative A tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatcc AGCTGTTCGACG CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAagctgttcgacgAGATCGAGACCCGACGC chr15:94815079-Alternative-A;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative A tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CAGCGCACAATC CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAcagcgcacaatcAGATCGAGACCCGACGC chr15:94815079-Alternative-A;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Reference T tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc ACAGGTGTTCAT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAacaggtgttcatAGATCGAGACCCGACGC chr15:94815079-Reference-T;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Reference T tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CACATCGTGACG CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAcacatcgtgacgAGATCGAGACCCGACGC chr15:94815079-Reference-T;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative G tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CGACTACTCTAT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAcgactactctatAGATCGAGACCCGACGC chr15:94815079-Alternative-G;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative A tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatcc AGTCTCGAATGT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtActaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAagtctcgaatgtAGATCGAGACCCGACGC chr15:94815079-Alternative-A;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Reference T tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CTGTCCGTTGGT CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtTctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAActgtccgttggtAGATCGAGACCCGACGC chr15:94815079-Reference-T;Patient-36 chr15:94815079-TC DeNovo Patient-36 intergenic NA 0.000513 0.5 9.39 1.72 MCTP2 26350 Alternative G tttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatcc CAAGACAACAAC CGACGCGGTCTCTCTCTtttttcacaccagaaatggctttggaacatatgcataaagtttctgttgtGctaaattagtgtttcttttgggctaacctttcaattacatttaccatccAGAGGGAGACGGACGTCTCAATAAcaagacaacaacAGATCGAGACCCGACGC chr15:94815079-Alternative-G;Patient-36 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative C ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ACTATCTGACGA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAactatctgacgaAGATCGAGACCCGACGC chr15:96885412-Alternative-C;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative C ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GGTGTAATAGGT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAggtgtaataggtAGATCGAGACCCGACGC chr15:96885412-Alternative-C;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative C ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ATAGACACCAAG CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAatagacaccaagAGATCGAGACCCGACGC chr15:96885412-Alternative-C;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative C ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ACCAATGGCATT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAaccaatggcattAGATCGAGACCCGACGC chr15:96885412-Alternative-C;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative C ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GATACACGCCTT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttCaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAgatacacgccttAGATCGAGACCCGACGC chr15:96885412-Alternative-C;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Variant T ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct CGGAGTAATAAG CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAcggagtaataagAGATCGAGACCCGACGC chr15:96885412-Variant-T;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Reference A ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GACTACGTTGAT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAgactacgttgatAGATCGAGACCCGACGC chr15:96885412-Reference-A;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Variant T ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct CGGCGGTAACTA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAcggcggtaactaAGATCGAGACCCGACGC chr15:96885412-Variant-T;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Reference A ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ATTATCCGCAAG CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAattatccgcaagAGATCGAGACCCGACGC chr15:96885412-Reference-A;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Reference A ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct AGTATAGTGCCG CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAagtatagtgccgAGATCGAGACCCGACGC chr15:96885412-Reference-A;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Variant T ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct CTTAGCTAAGCA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAActtagctaagcaAGATCGAGACCCGACGC chr15:96885412-Variant-T;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative G ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GACGATGTTGCG CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAgacgatgttgcgAGATCGAGACCCGACGC chr15:96885412-Alternative-G;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Reference A ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ATAGGCTAACGT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAataggctaacgtAGATCGAGACCCGACGC chr15:96885412-Reference-A;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Reference A ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GTACGGTGGACA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttAaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAgtacggtggacaAGATCGAGACCCGACGC chr15:96885412-Reference-A;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Variant T ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct CTATGTAAGCGT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAActatgtaagcgtAGATCGAGACCCGACGC chr15:96885412-Variant-T;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative G ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct GGATCGTCATTA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAggatcgtcattaAGATCGAGACCCGACGC chr15:96885412-Alternative-G;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative G ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct AACCAACGCGCA CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAaaccaacgcgcaAGATCGAGACCCGACGC chr15:96885412-Alternative-G;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Variant T ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct CTAAGCGCGAAC CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttTaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAActaagcgcgaacAGATCGAGACCCGACGC chr15:96885412-Variant-T;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative G ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct ACGTTAGGAGAT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAacgttaggagatAGATCGAGACCCGACGC chr15:96885412-Alternative-G;Patient-92 chr15:96885412-AT Inherited Patient-92 intergenic 3.2e-05 0.000513 1.18 14.34 -3.79 NR2F2 16254 Alternative G ggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggct AGCAACGGTACT CGACGCGGTCTCTCTCTggatactctctgaattccaggcctcgtcaagatttattgaagttgggcttGaaaaacgtgcttcagatgatttttcccattttctcagatttcaaaggctAGAGGGAGACGGACGTCTCAATAAagcaacggtactAGATCGAGACCCGACGC chr15:96885412-Alternative-G;Patient-92 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative T agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa ACTCTGAGGCCT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAactctgaggcctAGATCGAGACCCGACGC chr15:99172409-Alternative-T;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Variant C agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa AGAATGTCGGAT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAagaatgtcggatAGATCGAGACCCGACGC chr15:99172409-Variant-C;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Variant C agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa AACGCGCATATA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAaacgcgcatataAGATCGAGACCCGACGC chr15:99172409-Variant-C;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Variant C agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa CGGCGCTATTGT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAcggcgctattgtAGATCGAGACCCGACGC chr15:99172409-Variant-C;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Variant C agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GCGGTCATAACT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgcggtcataactAGATCGAGACCCGACGC chr15:99172409-Variant-C;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Reference A agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GATGTTAGCGAA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgatgttagcgaaAGATCGAGACCCGACGC chr15:99172409-Reference-A;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative G agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GTGTACGAGATA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgtgtacgagataAGATCGAGACCCGACGC chr15:99172409-Alternative-G;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Variant C agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa AGGCTATCTAAG CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcCtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAaggctatctaagAGATCGAGACCCGACGC chr15:99172409-Variant-C;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Reference A agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa ATCCGATCTCAA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAatccgatctcaaAGATCGAGACCCGACGC chr15:99172409-Reference-A;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Reference A agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa CTAGTTACGGAT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAActagttacggatAGATCGAGACCCGACGC chr15:99172409-Reference-A;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Reference A agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GTTCGCGCTCTT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgttcgcgctcttAGATCGAGACCCGACGC chr15:99172409-Reference-A;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Reference A agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GGTAACTAACGC CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcAtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAggtaactaacgcAGATCGAGACCCGACGC chr15:99172409-Reference-A;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative T agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa ATTCTGGTTCGT CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAattctggttcgtAGATCGAGACCCGACGC chr15:99172409-Alternative-T;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative G agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa ATTCACGTGTTC CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAattcacgtgttcAGATCGAGACCCGACGC chr15:99172409-Alternative-G;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative T agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa AACAGCGCAATA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAaacagcgcaataAGATCGAGACCCGACGC chr15:99172409-Alternative-T;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative T agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa AGGTGGCGTTCA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAaggtggcgttcaAGATCGAGACCCGACGC chr15:99172409-Alternative-T;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative T agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GTCGCCATCTAC CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcTtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgtcgccatctacAGATCGAGACCCGACGC chr15:99172409-Alternative-T;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative G agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa CGGAACTTGTTA CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAcggaacttgttaAGATCGAGACCCGACGC chr15:99172409-Alternative-G;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative G agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa GATGCATGGTGG CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAgatgcatggtggAGATCGAGACCCGACGC chr15:99172409-Alternative-G;Patient-37 chr15:99172409-AC DeNovo Patient-37 intergenic NA 0.000513 0.08 3.86 -2.08 IGF1R 20351 Alternative G agaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaa ACCTTGCGTACG CGACGCGGTCTCTCTCTagaacataaaagtagaaatttaatagacaaaggattcatatctagaatgcGtaaagaattcctataagtcaataagaaaaagacaaacaattcagcttaaAGAGGGAGACGGACGTCTCAATAAaccttgcgtacgAGATCGAGACCCGACGC chr15:99172409-Alternative-G;Patient-37 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Reference G tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CTATCGACGCGA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAActatcgacgcgaAGATCGAGACCCGACGC chr15:99228951-Reference-G;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative T tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CTCTCGTATTGA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAActctcgtattgaAGATCGAGACCCGACGC chr15:99228951-Alternative-T;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative T tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GTCGTCGCTGAA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAgtcgtcgctgaaAGATCGAGACCCGACGC chr15:99228951-Alternative-T;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Reference G tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca AAGTCGGCTTCG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAaagtcggcttcgAGATCGAGACCCGACGC chr15:99228951-Reference-G;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative C tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GACATAACGTGA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAgacataacgtgaAGATCGAGACCCGACGC chr15:99228951-Alternative-C;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative T tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca ACATGCGGAATA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAacatgcggaataAGATCGAGACCCGACGC chr15:99228951-Alternative-T;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Reference G tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca AGTTGGCTTAGT CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAagttggcttagtAGATCGAGACCCGACGC chr15:99228951-Reference-G;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Variant A tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CTAAGCTTCTGT CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAActaagcttctgtAGATCGAGACCCGACGC chr15:99228951-Variant-A;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Reference G tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CGACGTACCAAG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAcgacgtaccaagAGATCGAGACCCGACGC chr15:99228951-Reference-G;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative C tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GGAATGACACCG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAggaatgacaccgAGATCGAGACCCGACGC chr15:99228951-Alternative-C;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative C tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca ATCTATCTGCCA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAatctatctgccaAGATCGAGACCCGACGC chr15:99228951-Alternative-C;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative C tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CACGTGGAATAA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAcacgtggaataaAGATCGAGACCCGACGC chr15:99228951-Alternative-C;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative T tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CAGGAGTTGGCA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAcaggagttggcaAGATCGAGACCCGACGC chr15:99228951-Alternative-T;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Variant A tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca ACCTACGAGCGT CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAacctacgagcgtAGATCGAGACCCGACGC chr15:99228951-Variant-A;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Variant A tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca AGTCGCCGTAGT CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAagtcgccgtagtAGATCGAGACCCGACGC chr15:99228951-Variant-A;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative C tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GTTACGTGTCGG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcCtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAgttacgtgtcggAGATCGAGACCCGACGC chr15:99228951-Alternative-C;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Reference G tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca AGCTCTCGTAGG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcGtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAagctctcgtaggAGATCGAGACCCGACGC chr15:99228951-Reference-G;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Variant A tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca CTACAAGATTCG CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAActacaagattcgAGATCGAGACCCGACGC chr15:99228951-Variant-A;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Alternative T tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GGACGTCCATTC CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcTtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAggacgtccattcAGATCGAGACCCGACGC chr15:99228951-Alternative-T;Patient-93 chr15:99228951-GA Inherited Patient-93 intronic IGF1R 0.000764 0.000148 -0.35 0.25 -4.71 IGF1R 36189 Variant A tcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctca GGCGCACATTCA CGACGCGGTCTCTCTCTtcctccagataattgttgaagatggaacaggagtgtgcaagaacaccagcAtgcttccagtattcaggtctagcggcaggtcccaggcatcagcggctcaAGAGGGAGACGGACGTCTCAATAAggcgcacattcaAGATCGAGACCCGACGC chr15:99228951-Variant-A;Patient-93 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative G agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc CACTTATGCTGT CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAcacttatgctgtAGATCGAGACCCGACGC chr15:99608805-Alternative-G;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative G agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc CGGACTTACTTA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAcggacttacttaAGATCGAGACCCGACGC chr15:99608805-Alternative-G;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative G agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GCGAGAATGTGC CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgcgagaatgtgcAGATCGAGACCCGACGC chr15:99608805-Alternative-G;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative A agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GATCGTTCGCGA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgatcgttcgcgaAGATCGAGACCCGACGC chr15:99608805-Alternative-A;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Reference T agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc AGTCTCTCTCAA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAagtctctctcaaAGATCGAGACCCGACGC chr15:99608805-Reference-T;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative G agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc ATACGTAGGTTC CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAatacgtaggttcAGATCGAGACCCGACGC chr15:99608805-Alternative-G;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative A agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc ATTGGCTCGTGG CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAattggctcgtggAGATCGAGACCCGACGC chr15:99608805-Alternative-A;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative G agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc CTTACTCGAAGG CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagGcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAActtactcgaaggAGATCGAGACCCGACGC chr15:99608805-Alternative-G;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative A agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GTTGTTCTTGCA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgttgttcttgcaAGATCGAGACCCGACGC chr15:99608805-Alternative-A;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Reference T agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GGCTCTTCGAGA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAggctcttcgagaAGATCGAGACCCGACGC chr15:99608805-Reference-T;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative A agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc ACGCGAACGTAC CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAacgcgaacgtacAGATCGAGACCCGACGC chr15:99608805-Alternative-A;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Reference T agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc CTCTAAGCCGCT CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAActctaagccgctAGATCGAGACCCGACGC chr15:99608805-Reference-T;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Reference T agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GTTCACGCGTCT CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgttcacgcgtctAGATCGAGACCCGACGC chr15:99608805-Reference-T;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Reference T agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc AACGATCGTGAA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagTcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAaacgatcgtgaaAGATCGAGACCCGACGC chr15:99608805-Reference-T;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Alternative A agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc ACTGCTATCGGC CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagAcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAactgctatcggcAGATCGAGACCCGACGC chr15:99608805-Alternative-A;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Variant C agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc AGTTCCAAGCGG CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAagttccaagcggAGATCGAGACCCGACGC chr15:99608805-Variant-C;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Variant C agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GATAGTTGAGCA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgatagttgagcaAGATCGAGACCCGACGC chr15:99608805-Variant-C;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Variant C agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc CGAGTCTCGAGT CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAcgagtctcgagtAGATCGAGACCCGACGC chr15:99608805-Variant-C;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Variant C agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GACCGAATCAAG CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgaccgaatcaagAGATCGAGACCCGACGC chr15:99608805-Variant-C;Patient-54 chr15:99608805-TC Inherited Patient-54 intergenic 0.000191 0.000513 -0.2 0.73 -2.48 SYNM 36480 Variant C agaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagc GATCGCAACTAA CGACGCGGTCTCTCTCTagaaaccatactctgtgtcctgttctctcttgcagattaaccatgttcagCcgtgggttctacactgagtcctctcatgtcttcccatcagagtagtagcAGAGGGAGACGGACGTCTCAATAAgatcgcaactaaAGATCGAGACCCGACGC chr15:99608805-Variant-C;Patient-54 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Variant C tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac ACAGCTTGACAG CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAacagcttgacagAGATCGAGACCCGACGC chr16:10179475-Variant-C;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Variant C tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac ATTGAACGCCGA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAattgaacgccgaAGATCGAGACCCGACGC chr16:10179475-Variant-C;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Variant C tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac CGGAATGCGGTT CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAcggaatgcggttAGATCGAGACCCGACGC chr16:10179475-Variant-C;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Variant C tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GACGATTCACAG CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgacgattcacagAGATCGAGACCCGACGC chr16:10179475-Variant-C;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative A tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GGTCAAGTTCAT CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAggtcaagttcatAGATCGAGACCCGACGC chr16:10179475-Alternative-A;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative A tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac AGCTGTGAGAAG CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAagctgtgagaagAGATCGAGACCCGACGC chr16:10179475-Alternative-A;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative A tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GTCGCTAGACTA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgtcgctagactaAGATCGAGACCCGACGC chr16:10179475-Alternative-A;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative A tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac CGCATCGTACAC CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAcgcatcgtacacAGATCGAGACCCGACGC chr16:10179475-Alternative-A;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative A tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac ATCGGATGATCA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgAataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAatcggatgatcaAGATCGAGACCCGACGC chr16:10179475-Alternative-A;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Reference T tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GGACGATTAACC CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAggacgattaaccAGATCGAGACCCGACGC chr16:10179475-Reference-T;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Reference T tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac AGTTATCCGCAA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAagttatccgcaaAGATCGAGACCCGACGC chr16:10179475-Reference-T;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Reference T tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac CGAGAGATACAG CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAcgagagatacagAGATCGAGACCCGACGC chr16:10179475-Reference-T;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Reference T tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GAGTACAGAGAT CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgagtacagagatAGATCGAGACCCGACGC chr16:10179475-Reference-T;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Reference T tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GTCGTAGCAGCT CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgTataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgtcgtagcagctAGATCGAGACCCGACGC chr16:10179475-Reference-T;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative G tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GTACACGATCGA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgtacacgatcgaAGATCGAGACCCGACGC chr16:10179475-Alternative-G;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative G tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac AAGACGCATCTA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAaagacgcatctaAGATCGAGACCCGACGC chr16:10179475-Alternative-G;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative G tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac ACCTTGATTGTC CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAaccttgattgtcAGATCGAGACCCGACGC chr16:10179475-Alternative-G;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative G tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac CTCAAGTAAGCA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAActcaagtaagcaAGATCGAGACCCGACGC chr16:10179475-Alternative-G;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Alternative G tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac GAGACTGTCATA CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgGataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAgagactgtcataAGATCGAGACCCGACGC chr16:10179475-Alternative-G;Patient-30 chr16:10179475-TC Inherited Patient-30 intronic GRIN2A NA 4.95e-05 NA NA NA GRIN2A 97135 Variant C tgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaac ACCTCGGTATGC CGACGCGGTCTCTCTCTtgcaaatcttatcaggaaggaatgttgcttggttggccgtgtcaaacctgCataaagcgaggggcagagtcaggtggttggttggaaacagtgatggaacAGAGGGAGACGGACGTCTCAATAAacctcggtatgcAGATCGAGACCCGACGC chr16:10179475-Variant-C;Patient-30 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Variant C tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagag GCGGTTCCAGTT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAgcggttccagttAGATCGAGACCCGACGC chr16:10265161-Variant-C;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Variant C tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagag CAACGGTAACTT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAcaacggtaacttAGATCGAGACCCGACGC chr16:10265161-Variant-C;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Variant C tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagag CGCAAGTCGCAT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAcgcaagtcgcatAGATCGAGACCCGACGC chr16:10265161-Variant-C;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative A tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagag CAGGCGTCTAGA CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAcaggcgtctagaAGATCGAGACCCGACGC chr16:10265161-Alternative-A;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative A tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTACGCTAGTAT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActacgctagtatAGATCGAGACCCGACGC chr16:10265161-Alternative-A;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative A tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTATCAAGCGTT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActatcaagcgttAGATCGAGACCCGACGC chr16:10265161-Alternative-A;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Variant C tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagag ACTCGGTACTAA CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAactcggtactaaAGATCGAGACCCGACGC chr16:10265161-Variant-C;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative A tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTTAGCGTTCGG CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActtagcgttcggAGATCGAGACCCGACGC chr16:10265161-Alternative-A;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Variant C tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagag ATCGAGTCAACT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgCagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAatcgagtcaactAGATCGAGACCCGACGC chr16:10265161-Variant-C;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Reference G tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTTGTCATAGCT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActtgtcatagctAGATCGAGACCCGACGC chr16:10265161-Reference-G;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Reference G tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTAAGGCTCCGA CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActaaggctccgaAGATCGAGACCCGACGC chr16:10265161-Reference-G;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative A tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagag GTAGTCTTGAGT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgAagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAgtagtcttgagtAGATCGAGACCCGACGC chr16:10265161-Alternative-A;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative T tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagag ATTCGGTTGCTT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAattcggttgcttAGATCGAGACCCGACGC chr16:10265161-Alternative-T;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Reference G tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagag CTGTGTCCATCG CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAActgtgtccatcgAGATCGAGACCCGACGC chr16:10265161-Reference-G;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative T tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagag GTATCGTGGTTA CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAgtatcgtggttaAGATCGAGACCCGACGC chr16:10265161-Alternative-T;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Reference G tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagag ACTGGCATTCGG CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAactggcattcggAGATCGAGACCCGACGC chr16:10265161-Reference-G;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative T tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagag GATTGTCGAGTT CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAgattgtcgagttAGATCGAGACCCGACGC chr16:10265161-Alternative-T;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative T tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagag ATAATGCTACGC CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAataatgctacgcAGATCGAGACCCGACGC chr16:10265161-Alternative-T;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Reference G tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagag GGTTCTATTGAG CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgGagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAggttctattgagAGATCGAGACCCGACGC chr16:10265161-Reference-G;Patient-73 chr16:10265161-GC DeNovo Patient-73 intronic GRIN2A NA 4.95e-05 1.61 16.3 2.52 GRIN2A 11449 Alternative T tcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagag GGATCTGGATAC CGACGCGGTCTCTCTCTtcctttatttcctcatctgaaaatagagattctttaaacaaataccgttgTagctgccaggtttcccaggctatcactgagttattaatccttggcagagAGAGGGAGACGGACGTCTCAATAAggatctggatacAGATCGAGACCCGACGC chr16:10265161-Alternative-T;Patient-73 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Reference C cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg AGGTATTCATGC CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAaggtattcatgcAGATCGAGACCCGACGC chr16:1055394-Reference-C;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative A cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GACATGGTGGAC CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgacatggtggacAGATCGAGACCCGACGC chr16:1055394-Alternative-A;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative G cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg ACCTGTTCGATT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAacctgttcgattAGATCGAGACCCGACGC chr16:1055394-Alternative-G;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative G cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GTGTAGCTCTAA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgtgtagctctaaAGATCGAGACCCGACGC chr16:1055394-Alternative-G;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative A cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CTTAACTGTCGC CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAActtaactgtcgcAGATCGAGACCCGACGC chr16:1055394-Alternative-A;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative G cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GCCGTCCTATGT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgccgtcctatgtAGATCGAGACCCGACGC chr16:1055394-Alternative-G;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Variant T cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GGTGCGTTAACC CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAggtgcgttaaccAGATCGAGACCCGACGC chr16:1055394-Variant-T;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative G cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CATTCGCGACCT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAcattcgcgacctAGATCGAGACCCGACGC chr16:1055394-Alternative-G;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative G cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CAGCATCTACGG CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcGttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAcagcatctacggAGATCGAGACCCGACGC chr16:1055394-Alternative-G;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative A cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GCGTCCTTGGAA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgcgtccttggaaAGATCGAGACCCGACGC chr16:1055394-Alternative-A;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Variant T cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GGATATTGGAAC CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAggatattggaacAGATCGAGACCCGACGC chr16:1055394-Variant-T;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Variant T cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg ACGTGTTGGTTA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAacgtgttggttaAGATCGAGACCCGACGC chr16:1055394-Variant-T;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative A cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GCCAGGAGATTA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgccaggagattaAGATCGAGACCCGACGC chr16:1055394-Alternative-A;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Alternative A cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CACGCCATGCTA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcAttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAcacgccatgctaAGATCGAGACCCGACGC chr16:1055394-Alternative-A;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Variant T cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CGGTCATACTTA CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAcggtcatacttaAGATCGAGACCCGACGC chr16:1055394-Variant-T;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Reference C cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg AGTCGCTCCGTT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAagtcgctccgttAGATCGAGACCCGACGC chr16:1055394-Reference-C;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Variant T cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg CTAACCATTGCG CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcTttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAActaaccattgcgAGATCGAGACCCGACGC chr16:1055394-Variant-T;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Reference C cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GCGATTGGAACG CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgcgattggaacgAGATCGAGACCCGACGC chr16:1055394-Reference-C;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Reference C cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg GCATGGCGACTT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAgcatggcgacttAGATCGAGACCCGACGC chr16:1055394-Reference-C;Patient-41 chr16:1055394-CT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.05 0.08 SSTR5 67361 Reference C cctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctggg ACTCGCCTACAT CGACGCGGTCTCTCTCTcctcctgtgctggggttggggagcttggagtgtggcaaagtgtctgattcCttcttcttccttcagctgtgcacccagggtctggagcgacagagctgggAGAGGGAGACGGACGTCTCAATAAactcgcctacatAGATCGAGACCCGACGC chr16:1055394-Reference-C;Patient-41 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Variant C aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AAGGCTGTTATC CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAaaggctgttatcAGATCGAGACCCGACGC chr16:10789345-Variant-C;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Variant C aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag ACTCTCACCTTC CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAactctcaccttcAGATCGAGACCCGACGC chr16:10789345-Variant-C;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Variant C aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag ACGTATGCTGAA CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAacgtatgctgaaAGATCGAGACCCGACGC chr16:10789345-Variant-C;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Reference G aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag CGGCGTAATCGT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAcggcgtaatcgtAGATCGAGACCCGACGC chr16:10789345-Reference-G;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative A aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag ACTTAGATCGGT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAacttagatcggtAGATCGAGACCCGACGC chr16:10789345-Alternative-A;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative A aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AGTTCGTCGCGT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAagttcgtcgcgtAGATCGAGACCCGACGC chr16:10789345-Alternative-A;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Variant C aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag CGATGCATATAC CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAcgatgcatatacAGATCGAGACCCGACGC chr16:10789345-Variant-C;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Variant C aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GTCGTGCTAGGT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaCgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAgtcgtgctaggtAGATCGAGACCCGACGC chr16:10789345-Variant-C;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Reference G aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AACGCAGATCAT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAaacgcagatcatAGATCGAGACCCGACGC chr16:10789345-Reference-G;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative A aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag ACCTATAGCTGA CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAacctatagctgaAGATCGAGACCCGACGC chr16:10789345-Alternative-A;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative T aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GTGTTCGGAATT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAgtgttcggaattAGATCGAGACCCGACGC chr16:10789345-Alternative-T;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Reference G aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GGACGATATCTT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAggacgatatcttAGATCGAGACCCGACGC chr16:10789345-Reference-G;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Reference G aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag ACTCAACCTAAG CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAactcaacctaagAGATCGAGACCCGACGC chr16:10789345-Reference-G;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative A aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GGTTGCGACGAA CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAggttgcgacgaaAGATCGAGACCCGACGC chr16:10789345-Alternative-A;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative T aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AAGCGGCGTGAT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAaagcggcgtgatAGATCGAGACCCGACGC chr16:10789345-Alternative-T;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative A aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GGTGTTAGGACG CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaAgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAggtgttaggacgAGATCGAGACCCGACGC chr16:10789345-Alternative-A;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Reference G aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AGCTTGCGTTCG CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaGgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAagcttgcgttcgAGATCGAGACCCGACGC chr16:10789345-Reference-G;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative T aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GTAGATGGTGAT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAgtagatggtgatAGATCGAGACCCGACGC chr16:10789345-Alternative-T;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative T aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag AGATGGCATGAA CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAagatggcatgaaAGATCGAGACCCGACGC chr16:10789345-Alternative-T;Patient-30 chr16:10789345-GC Inherited Patient-30 intergenic 0.000414 0.00103 NA NA NA NUBP1 48297 Alternative T aaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgag GCAGGTAGTCAT CGACGCGGTCTCTCTCTaaaacgagctgggcacagtggctggcacctgtggtcccagctactcaggaTgctgaggcaggaggatggcttgagtccaggaggtggaggctgcagtgagAGAGGGAGACGGACGTCTCAATAAgcaggtagtcatAGATCGAGACCCGACGC chr16:10789345-Alternative-T;Patient-30 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Reference G taatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatga GGTATCGGTAGG CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAggtatcggtaggAGATCGAGACCCGACGC chr16:10793770-Reference-G;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Reference G taatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatga AACCGGATCTGG CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAaaccggatctggAGATCGAGACCCGACGC chr16:10793770-Reference-G;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Reference G taatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGTCCGGACAAC CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagtccggacaacAGATCGAGACCCGACGC chr16:10793770-Reference-G;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Reference G taatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatga CTTGACAGTAGT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAActtgacagtagtAGATCGAGACCCGACGC chr16:10793770-Reference-G;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative C taatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGTTAATTGGCG CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagttaattggcgAGATCGAGACCCGACGC chr16:10793770-Alternative-C;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative C taatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatga GGCAATATAGTC CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAggcaatatagtcAGATCGAGACCCGACGC chr16:10793770-Alternative-C;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative C taatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatga GACGCTATCTGT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAgacgctatctgtAGATCGAGACCCGACGC chr16:10793770-Alternative-C;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Variant A taatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatga ATACGTAGCCGT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAatacgtagccgtAGATCGAGACCCGACGC chr16:10793770-Variant-A;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative C taatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatga CAAGGTACGTAA CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAcaaggtacgtaaAGATCGAGACCCGACGC chr16:10793770-Alternative-C;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative C taatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGCCGACGACAT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgCtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagccgacgacatAGATCGAGACCCGACGC chr16:10793770-Alternative-C;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative T taatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGGTAGTTCGAA CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAaggtagttcgaaAGATCGAGACCCGACGC chr16:10793770-Alternative-T;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative T taatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGTTCGCGGTTC CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagttcgcggttcAGATCGAGACCCGACGC chr16:10793770-Alternative-T;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative T taatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatga GCGATTCATACT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAgcgattcatactAGATCGAGACCCGACGC chr16:10793770-Alternative-T;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Variant A taatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGTTGGAGCGAC CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagttggagcgacAGATCGAGACCCGACGC chr16:10793770-Variant-A;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Variant A taatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGCATCGAAGAT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAagcatcgaagatAGATCGAGACCCGACGC chr16:10793770-Variant-A;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Variant A taatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatga CTAACGTGTTCT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAActaacgtgttctAGATCGAGACCCGACGC chr16:10793770-Variant-A;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Variant A taatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatga AGGTAATGCACA CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgAtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAaggtaatgcacaAGATCGAGACCCGACGC chr16:10793770-Variant-A;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Reference G taatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatga GATAGTCGTGAA CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgGtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAgatagtcgtgaaAGATCGAGACCCGACGC chr16:10793770-Reference-G;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative T taatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatga CATAGCGGCTGT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAcatagcggctgtAGATCGAGACCCGACGC chr16:10793770-Alternative-T;Patient-24 chr16:10793770-GA DeNovo Patient-24 intergenic NA 0.000513 0.14 4.94 0 NUBP1 43872 Alternative T taatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatga CGGATTCGCAAT CGACGCGGTCTCTCTCTtaatattaccctaggatattatgaatactatcacaagaagtacacacgtgTtatacacccactgtgacattagaagtaacatccccctagggcatgatgaAGAGGGAGACGGACGTCTCAATAAcggattcgcaatAGATCGAGACCCGACGC chr16:10793770-Alternative-T;Patient-24 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Variant A tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CGCTACGCAACT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAcgctacgcaactAGATCGAGACCCGACGC chr16:116479-Variant-A;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative C tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg AGCCTTGGATAT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAagccttggatatAGATCGAGACCCGACGC chr16:116479-Alternative-C;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Reference G tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GATCGTAGCTAT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAgatcgtagctatAGATCGAGACCCGACGC chr16:116479-Reference-G;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative T tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CTCAACCTTGGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAActcaaccttggtAGATCGAGACCCGACGC chr16:116479-Alternative-T;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Variant A tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GGATAGCGAATT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAggatagcgaattAGATCGAGACCCGACGC chr16:116479-Variant-A;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative C tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GACGAAGCTGGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAgacgaagctggtAGATCGAGACCCGACGC chr16:116479-Alternative-C;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Variant A tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CGGACGTCTTGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAcggacgtcttgtAGATCGAGACCCGACGC chr16:116479-Variant-A;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative C tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg ACCAATAGTGCT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAaccaatagtgctAGATCGAGACCCGACGC chr16:116479-Alternative-C;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Reference G tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg AATGGCTTGGAA CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAaatggcttggaaAGATCGAGACCCGACGC chr16:116479-Reference-G;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative C tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GGACTCAGTGCT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAggactcagtgctAGATCGAGACCCGACGC chr16:116479-Alternative-C;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative T tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg ACTCAAGGCAGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAactcaaggcagtAGATCGAGACCCGACGC chr16:116479-Alternative-T;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Reference G tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CGATCCTTGCGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAcgatccttgcgtAGATCGAGACCCGACGC chr16:116479-Reference-G;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Reference G tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GAATGGTTCGCG CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAgaatggttcgcgAGATCGAGACCCGACGC chr16:116479-Reference-G;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative T tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg ATTGCGGTAACT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAattgcggtaactAGATCGAGACCCGACGC chr16:116479-Alternative-T;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative T tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg ACCAACGTACCA CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAaccaacgtaccaAGATCGAGACCCGACGC chr16:116479-Alternative-T;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative T tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg ACCGCACTCAGT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaTagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAaccgcactcagtAGATCGAGACCCGACGC chr16:116479-Alternative-T;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Reference G tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CGAAGGACCTAA CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaGagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAcgaaggacctaaAGATCGAGACCCGACGC chr16:116479-Reference-G;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Alternative C tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg CGCCTACTTACG CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaCagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAcgcctacttacgAGATCGAGACCCGACGC chr16:116479-Alternative-C;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Variant A tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GTTATCGTCCAT CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAgttatcgtccatAGATCGAGACCCGACGC chr16:116479-Variant-A;Patient-81 chr16:116479-GA DeNovo Patient-81 intronic RHBDF1 0.000191 9.9e-05 -0.09 1.52 -3.82 RHBDF1 6149 Variant A tgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatg GTCGAGTCATCG CGACGCGGTCTCTCTCTtgctcacagctcctaatggtcttatgccagccagggacaggcctgggacaAagctcacggctccttccgaccctgtactaccagggaaaggctgggaatgAGAGGGAGACGGACGTCTCAATAAgtcgagtcatcgAGATCGAGACCCGACGC chr16:116479-Variant-A;Patient-81 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Variant A cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GATTGCTCATGA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgattgctcatgaAGATCGAGACCCGACGC chr16:1171278-Variant-A;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative T cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GGCTTAGGAACG CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAggcttaggaacgAGATCGAGACCCGACGC chr16:1171278-Alternative-T;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Variant A cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggagg ATCTGCGCGCAT CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAatctgcgcgcatAGATCGAGACCCGACGC chr16:1171278-Variant-A;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative T cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggagg AGGTGAGTAGAA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAaggtgagtagaaAGATCGAGACCCGACGC chr16:1171278-Alternative-T;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Reference G cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CGTGGAGTATAA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAcgtggagtataaAGATCGAGACCCGACGC chr16:1171278-Reference-G;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Variant A cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CGTATAACGCCA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAcgtataacgccaAGATCGAGACCCGACGC chr16:1171278-Variant-A;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative T cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggagg ACAGCTAGCGCA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAacagctagcgcaAGATCGAGACCCGACGC chr16:1171278-Alternative-T;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative T cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CGTCGCACATTC CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAcgtcgcacattcAGATCGAGACCCGACGC chr16:1171278-Alternative-T;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Reference G cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggagg AGGTTGACCGTC CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAaggttgaccgtcAGATCGAGACCCGACGC chr16:1171278-Reference-G;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Reference G cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GTAAGCGGATAA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgtaagcggataaAGATCGAGACCCGACGC chr16:1171278-Reference-G;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative C cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GTCGTTCTCATA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgtcgttctcataAGATCGAGACCCGACGC chr16:1171278-Alternative-C;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative C cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CTTACGCCGCTA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAActtacgccgctaAGATCGAGACCCGACGC chr16:1171278-Alternative-C;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Reference G cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GCAGGTCGGTAA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgcaggtcggtaaAGATCGAGACCCGACGC chr16:1171278-Reference-G;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Reference G cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GACATCGCGCTT CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggGccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgacatcgcgcttAGATCGAGACCCGACGC chr16:1171278-Reference-G;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Variant A cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CGTCTGTCGGTT CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAcgtctgtcggttAGATCGAGACCCGACGC chr16:1171278-Variant-A;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative C cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggagg CGGATCTACTAA CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAcggatctactaaAGATCGAGACCCGACGC chr16:1171278-Alternative-C;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative C cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggagg AACACCGATTGC CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAaacaccgattgcAGATCGAGACCCGACGC chr16:1171278-Alternative-C;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative C cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggagg ACTCCGTTGTCG CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggCccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAactccgttgtcgAGATCGAGACCCGACGC chr16:1171278-Alternative-C;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Alternative T cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggagg GTCTCTTGGTAT CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggTccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAgtctcttggtatAGATCGAGACCCGACGC chr16:1171278-Alternative-T;Patient-31 chr16:1171278-GA DeNovo Patient-31 intergenic NA 0.000513 0.07 3.84 0.9 CACNA1H 31962 Variant A cacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggagg AACTACACCGAC CGACGCGGTCTCTCTCTcacccctccacgcacccgtagtggccaagcccacctccgggggttcccggAccccagagtggacacgagtgcccagggggctgggcccaagccagggaggAGAGGGAGACGGACGTCTCAATAAaactacaccgacAGATCGAGACCCGACGC chr16:1171278-Variant-A;Patient-31 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Reference C actgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CGAGTGGCAAGT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcgagtggcaagtAGATCGAGACCCGACGC chr16:11937451-Reference-C;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative G actgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GGTATTCGACTA CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAggtattcgactaAGATCGAGACCCGACGC chr16:11937451-Alternative-G;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Reference C actgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GGTTGAGCTACC CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAggttgagctaccAGATCGAGACCCGACGC chr16:11937451-Reference-C;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Reference C actgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GGAGAAGATCGG CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAggagaagatcggAGATCGAGACCCGACGC chr16:11937451-Reference-C;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Reference C actgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GGTTAACTTACG CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAggttaacttacgAGATCGAGACCCGACGC chr16:11937451-Reference-C;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative A actgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GTTCTGGAGCGT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAgttctggagcgtAGATCGAGACCCGACGC chr16:11937451-Alternative-A;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Variant T actgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CATTCTGTAGTC CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcattctgtagtcAGATCGAGACCCGACGC chr16:11937451-Variant-T;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative A actgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CTCGCGGATAGT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAActcgcggatagtAGATCGAGACCCGACGC chr16:11937451-Alternative-A;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Variant T actgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc AAGTAAGTTCGC CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAaagtaagttcgcAGATCGAGACCCGACGC chr16:11937451-Variant-T;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative A actgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc GGCAATTACGTT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAggcaattacgttAGATCGAGACCCGACGC chr16:11937451-Alternative-A;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Variant T actgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc AATCGACTGACT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAaatcgactgactAGATCGAGACCCGACGC chr16:11937451-Variant-T;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Variant T actgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CGATTAGGTGTT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcgattaggtgttAGATCGAGACCCGACGC chr16:11937451-Variant-T;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative G actgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc ATAGCTGCGAGA CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAatagctgcgagaAGATCGAGACCCGACGC chr16:11937451-Alternative-G;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative G actgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CAAGACTATCGT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcaagactatcgtAGATCGAGACCCGACGC chr16:11937451-Alternative-G;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative A actgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CGGTCTGACACT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcggtctgacactAGATCGAGACCCGACGC chr16:11937451-Alternative-A;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Reference C actgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CGCTTGCGTCAA CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggCgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcgcttgcgtcaaAGATCGAGACCCGACGC chr16:11937451-Reference-C;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Variant T actgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc ACTGCGCAGCTT CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggTgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAactgcgcagcttAGATCGAGACCCGACGC chr16:11937451-Variant-T;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative A actgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CTTGACATAGCA CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggAgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAActtgacatagcaAGATCGAGACCCGACGC chr16:11937451-Alternative-A;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative G actgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CTCATTATGTCG CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAActcattatgtcgAGATCGAGACCCGACGC chr16:11937451-Alternative-G;Patient-17 chr16:11937451-CT Inherited Patient-17 intronic RSL1D1 9.6e-05 0.000148 -0.2 0.73 -0.5 RSL1D1 7990 Alternative G actgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggc CAGGATTCATGC CGACGCGGTCTCTCTCTactgctctacccagccgccatgttcaagaataaatagttctgtggctgggGgtggtggctcacgcctgtaatcccagcacgttgggaggccaaggtgggcAGAGGGAGACGGACGTCTCAATAAcaggattcatgcAGATCGAGACCCGACGC chr16:11937451-Alternative-G;Patient-17 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative C ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ACGACCGCAACA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAacgaccgcaacaAGATCGAGACCCGACGC chr16:1214065-Alternative-C;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative C ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GGCGGACTGTAA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAggcggactgtaaAGATCGAGACCCGACGC chr16:1214065-Alternative-C;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative C ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CGATCAGCTACA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcgatcagctacaAGATCGAGACCCGACGC chr16:1214065-Alternative-C;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative T ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GGCAAGTTAGCG CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAggcaagttagcgAGATCGAGACCCGACGC chr16:1214065-Alternative-T;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Reference G ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ACTACGAATCGT CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAactacgaatcgtAGATCGAGACCCGACGC chr16:1214065-Reference-G;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative T ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ATACCAACCAGT CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAataccaaccagtAGATCGAGACCCGACGC chr16:1214065-Alternative-T;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Reference G ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CATCTGATGTTC CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcatctgatgttcAGATCGAGACCCGACGC chr16:1214065-Reference-G;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Reference G ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CAGCTCGCACTT CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcagctcgcacttAGATCGAGACCCGACGC chr16:1214065-Reference-G;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Reference G ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CTCGTAGTGACG CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAActcgtagtgacgAGATCGAGACCCGACGC chr16:1214065-Reference-G;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Variant A ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GGCGTAGTATAA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAggcgtagtataaAGATCGAGACCCGACGC chr16:1214065-Variant-A;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative T ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GTCGCTATCTAA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAgtcgctatctaaAGATCGAGACCCGACGC chr16:1214065-Alternative-T;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Variant A ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag AGCGTATATCGC CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAagcgtatatcgcAGATCGAGACCCGACGC chr16:1214065-Variant-A;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Variant A ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GAGTTGAGTCAT CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAgagttgagtcatAGATCGAGACCCGACGC chr16:1214065-Variant-A;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Variant A ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ATCAATGAAGCG CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAatcaatgaagcgAGATCGAGACCCGACGC chr16:1214065-Variant-A;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative T ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CGTAATTACCGA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcgtaattaccgaAGATCGAGACCCGACGC chr16:1214065-Alternative-T;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Reference G ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag GGTCTTAGACGC CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccGggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAggtcttagacgcAGATCGAGACCCGACGC chr16:1214065-Reference-G;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative C ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CAGGAGCTTGCA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcaggagcttgcaAGATCGAGACCCGACGC chr16:1214065-Alternative-C;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative T ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ACCTAGGTTAAC CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccTggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAacctaggttaacAGATCGAGACCCGACGC chr16:1214065-Alternative-T;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Variant A ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag CAGATAGTGACA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccAggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAcagatagtgacaAGATCGAGACCCGACGC chr16:1214065-Variant-A;Patient-80 chr16:1214065-GA DeNovo Patient-80 intronic CACNA1H NA 3.84e-05 -0.33 0.29 -1.74 CACNA1H 10823 Alternative C ggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaag ACAAGTACGCTA CGACGCGGTCTCTCTCTggtgcggcctgttggtgctgctggggtgtgagactgcctggccgccggccCggtatggaggccggcacaggtgtgggggcacttttgcctctcccagaagAGAGGGAGACGGACGTCTCAATAAacaagtacgctaAGATCGAGACCCGACGC chr16:1214065-Alternative-C;Patient-80 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative T cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ATAGCTAAGACG CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAatagctaagacgAGATCGAGACCCGACGC chr16:1354548-Alternative-T;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Reference G cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CAAGTTCGAGAA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcaagttcgagaaAGATCGAGACCCGACGC chr16:1354548-Reference-G;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Variant C cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CATAACGATCCA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcataacgatccaAGATCGAGACCCGACGC chr16:1354548-Variant-C;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Variant C cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt GTCATCTTACGC CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAgtcatcttacgcAGATCGAGACCCGACGC chr16:1354548-Variant-C;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative T cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CTGGCACGTCAA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAActggcacgtcaaAGATCGAGACCCGACGC chr16:1354548-Alternative-T;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative T cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CGCATGATAGCT CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcgcatgatagctAGATCGAGACCCGACGC chr16:1354548-Alternative-T;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative T cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CTAATAGGCGAT CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAActaataggcgatAGATCGAGACCCGACGC chr16:1354548-Alternative-T;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Reference G cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt GGACATTGGATA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAggacattggataAGATCGAGACCCGACGC chr16:1354548-Reference-G;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Variant C cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CGTCCGGAACTT CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcgtccggaacttAGATCGAGACCCGACGC chr16:1354548-Variant-C;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Variant C cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ATTGTACGTCGA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAattgtacgtcgaAGATCGAGACCCGACGC chr16:1354548-Variant-C;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative T cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ATCTATTCGCCA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaTgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAatctattcgccaAGATCGAGACCCGACGC chr16:1354548-Alternative-T;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Reference G cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ACACAGACGTAA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAacacagacgtaaAGATCGAGACCCGACGC chr16:1354548-Reference-G;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Reference G cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt AGACGGCGGTAA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAagacggcggtaaAGATCGAGACCCGACGC chr16:1354548-Reference-G;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Variant C cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CGCTATCAGCCA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaCgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcgctatcagccaAGATCGAGACCCGACGC chr16:1354548-Variant-C;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Reference G cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt CGACCAATTCAC CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaGgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAcgaccaattcacAGATCGAGACCCGACGC chr16:1354548-Reference-G;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative A cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ACCGAATTAAGG CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAaccgaattaaggAGATCGAGACCCGACGC chr16:1354548-Alternative-A;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative A cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt AGACGAGTCGAT CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAagacgagtcgatAGATCGAGACCCGACGC chr16:1354548-Alternative-A;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative A cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt AACGATGTCGAA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAaacgatgtcgaaAGATCGAGACCCGACGC chr16:1354548-Alternative-A;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative A cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt GAGTATCCTAGA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAgagtatcctagaAGATCGAGACCCGACGC chr16:1354548-Alternative-A;Patient-15 chr16:1354548-GC DeNovo Patient-15 intergenic 3.2e-05 0.00301 -0.13 1.11 -1.27 UBE2I 4605 Alternative A cgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgtt ACTTAGCTGTGA CGACGCGGTCTCTCTCTcgagggcgtgtcctgaattggaggaggaagtgaggtacatccgggctggaAgggcaggaaccagagtctttttttgtttgcttgttttttttttgttgttAGAGGGAGACGGACGTCTCAATAAacttagctgtgaAGATCGAGACCCGACGC chr16:1354548-Alternative-A;Patient-15 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative T cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CGCGACTGTAAC CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAcgcgactgtaacAGATCGAGACCCGACGC chr16:1361942-Alternative-T;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative T cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CAAGTACTCGCA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAcaagtactcgcaAGATCGAGACCCGACGC chr16:1361942-Alternative-T;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative C cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AGTCGTATGTCA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAagtcgtatgtcaAGATCGAGACCCGACGC chr16:1361942-Alternative-C;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Variant A cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CATGCTCCATGG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAcatgctccatggAGATCGAGACCCGACGC chr16:1361942-Variant-A;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative C cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AACCGGTAATCG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaaccggtaatcgAGATCGAGACCCGACGC chr16:1361942-Alternative-C;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative C cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AGGTGGTGTACG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaggtggtgtacgAGATCGAGACCCGACGC chr16:1361942-Alternative-C;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Variant A cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg ACCTCCGGAATC CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAacctccggaatcAGATCGAGACCCGACGC chr16:1361942-Variant-A;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative T cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg ACTTGTCGGTGG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAacttgtcggtggAGATCGAGACCCGACGC chr16:1361942-Alternative-T;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative C cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AACGCTTGTTCA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaacgcttgttcaAGATCGAGACCCGACGC chr16:1361942-Alternative-C;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Variant A cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg ACGCGCTGACTT CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAacgcgctgacttAGATCGAGACCCGACGC chr16:1361942-Variant-A;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Reference G cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CGAAGAATGTCG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAcgaagaatgtcgAGATCGAGACCCGACGC chr16:1361942-Reference-G;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Reference G cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg GTACGTTGCACA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAgtacgttgcacaAGATCGAGACCCGACGC chr16:1361942-Reference-G;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Reference G cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AACAAGTCGCCA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaacaagtcgccaAGATCGAGACCCGACGC chr16:1361942-Reference-G;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative C cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg AATAGCTCAACC CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacCtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaatagctcaaccAGATCGAGACCCGACGC chr16:1361942-Alternative-C;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Variant A cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg GACGCCGAACTA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAgacgccgaactaAGATCGAGACCCGACGC chr16:1361942-Variant-A;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative T cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg ACCTTACCGATT CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAaccttaccgattAGATCGAGACCCGACGC chr16:1361942-Alternative-T;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Alternative T cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg GATACTGACTGA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacTtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAgatactgactgaAGATCGAGACCCGACGC chr16:1361942-Alternative-T;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Reference G cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CTTGCTTACACG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAActtgcttacacgAGATCGAGACCCGACGC chr16:1361942-Reference-G;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Variant A cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg CTATGAGCCATA CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacAtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAActatgagccataAGATCGAGACCCGACGC chr16:1361942-Variant-A;Patient-86 chr16:1361942-GA DeNovo Patient-86 intronic UBE2I NA 0.00016 0.3 7.2 0.47 UBE2I 2787 Reference G cctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtg GGATAAGATAGG CGACGCGGTCTCTCTCTcctcaagtcgcagctgggctgctccacgtgggagtggagggtggaggaacGtgtggagtttcggagtccagcccagtgcggagacagccttgaaaccgtgAGAGGGAGACGGACGTCTCAATAAggataagataggAGATCGAGACCCGACGC chr16:1361942-Reference-G;Patient-86 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative C gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataat GCGTTAAGACCA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAgcgttaagaccaAGATCGAGACCCGACGC chr16:14023790-Alternative-C;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Reference G gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataat AGATACACACGA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAagatacacacgaAGATCGAGACCCGACGC chr16:14023790-Reference-G;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative T gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataat CGCGACATTATT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAcgcgacattattAGATCGAGACCCGACGC chr16:14023790-Alternative-T;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative T gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataat AGCTGCGTCTGT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAagctgcgtctgtAGATCGAGACCCGACGC chr16:14023790-Alternative-T;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Reference G gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataat AAGAACCTAGGT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAaagaacctaggtAGATCGAGACCCGACGC chr16:14023790-Reference-G;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Reference G gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataat AATAGCTCGTCA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAaatagctcgtcaAGATCGAGACCCGACGC chr16:14023790-Reference-G;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative T gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataat GTGTATCTTCCA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAgtgtatcttccaAGATCGAGACCCGACGC chr16:14023790-Alternative-T;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Reference G gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataat CTGCTCGAACCT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAActgctcgaacctAGATCGAGACCCGACGC chr16:14023790-Reference-G;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative T gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataat AAGTAAGTCGTC CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAaagtaagtcgtcAGATCGAGACCCGACGC chr16:14023790-Alternative-T;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative C gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataat CTCGTGCACGTT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAActcgtgcacgttAGATCGAGACCCGACGC chr16:14023790-Alternative-C;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative T gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataat ACTAGTGGACGG CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcTagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAactagtggacggAGATCGAGACCCGACGC chr16:14023790-Alternative-T;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Reference G gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataat GTACTATGCTGA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcGagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAgtactatgctgaAGATCGAGACCCGACGC chr16:14023790-Reference-G;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative C gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataat GCGGTTATTCTA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAgcggttattctaAGATCGAGACCCGACGC chr16:14023790-Alternative-C;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative C gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataat ATTCAAGGTCGT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAattcaaggtcgtAGATCGAGACCCGACGC chr16:14023790-Alternative-C;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Alternative C gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataat AGTCGTCGTGGT CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcCagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAagtcgtcgtggtAGATCGAGACCCGACGC chr16:14023790-Alternative-C;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Variant A gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataat ATCATCAAGTCG CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAatcatcaagtcgAGATCGAGACCCGACGC chr16:14023790-Variant-A;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Variant A gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataat GACCTAACCAAG CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAgacctaaccaagAGATCGAGACCCGACGC chr16:14023790-Variant-A;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Variant A gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataat CTAGCGCATACG CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAActagcgcatacgAGATCGAGACCCGACGC chr16:14023790-Variant-A;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Variant A gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataat CGAGCTAAGATA CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAcgagctaagataAGATCGAGACCCGACGC chr16:14023790-Variant-A;Patient-15 chr16:14023790-GA DeNovo Patient-15 intronic ERCC4 0.000414 3.92e-05 -0.4 0.18 -0.3 ERCC4 9775 Variant A gaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataat AGGTTACCGGAC CGACGCGGTCTCTCTCTgaacctgggaggcggaggttgcagtgagccgagattgtgccactgcactcAagcctggctacagagtgagactccatctcaaaataataataataataatAGAGGGAGACGGACGTCTCAATAAaggttaccggacAGATCGAGACCCGACGC chr16:14023790-Variant-A;Patient-15 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Reference T acaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc ATAGATAGGCGT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAatagataggcgtAGATCGAGACCCGACGC chr16:14030782-Reference-T;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative C acaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CTCGCACCTAAG CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAActcgcacctaagAGATCGAGACCCGACGC chr16:14030782-Alternative-C;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative A acaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GATGTCGTAAGA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgatgtcgtaagaAGATCGAGACCCGACGC chr16:14030782-Alternative-A;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative A acaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CATCGCACTTAT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAcatcgcacttatAGATCGAGACCCGACGC chr16:14030782-Alternative-A;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Reference T acaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc ACTCTTGTCTGA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAactcttgtctgaAGATCGAGACCCGACGC chr16:14030782-Reference-T;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Variant G acaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CGAGCCGATAGA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAcgagccgatagaAGATCGAGACCCGACGC chr16:14030782-Variant-G;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative C acaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GATGCAGGTATC CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgatgcaggtatcAGATCGAGACCCGACGC chr16:14030782-Alternative-C;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative A acaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc ACGCGAATCGTC CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAacgcgaatcgtcAGATCGAGACCCGACGC chr16:14030782-Alternative-A;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative C acaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GGACGCAAGTAA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAggacgcaagtaaAGATCGAGACCCGACGC chr16:14030782-Alternative-C;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Reference T acaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GTTGTGCGATTA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgttgtgcgattaAGATCGAGACCCGACGC chr16:14030782-Reference-T;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Reference T acaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GCGATACCATAC CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgcgataccatacAGATCGAGACCCGACGC chr16:14030782-Reference-T;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative C acaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CGCAGCGCAATA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAcgcagcgcaataAGATCGAGACCCGACGC chr16:14030782-Alternative-C;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative C acaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GGCGAGATCAGT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttCctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAggcgagatcagtAGATCGAGACCCGACGC chr16:14030782-Alternative-C;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Variant G acaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc ATCTTGTTCACG CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAatcttgttcacgAGATCGAGACCCGACGC chr16:14030782-Variant-G;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Variant G acaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CTTAGATTCGGT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAActtagattcggtAGATCGAGACCCGACGC chr16:14030782-Variant-G;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Reference T acaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CAACAACGGATT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttTctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAcaacaacggattAGATCGAGACCCGACGC chr16:14030782-Reference-T;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative A acaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GTATCGGACTAA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgtatcggactaaAGATCGAGACCCGACGC chr16:14030782-Alternative-A;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Alternative A acaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GATAGCGTCGTC CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttActttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAgatagcgtcgtcAGATCGAGACCCGACGC chr16:14030782-Alternative-A;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Variant G acaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc GGTTGCGAGTCT CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAggttgcgagtctAGATCGAGACCCGACGC chr16:14030782-Variant-G;Patient-73 chr16:14030782-TG DeNovo Patient-73 intronic ERCC4 0.000604 4.19e-05 -0.26 0.48 -1.36 ERCC4 16767 Variant G acaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgc CGCGCAAGTCAA CGACGCGGTCTCTCTCTacaaacaagatggaaaagcaggccttttttttttttccttttttttttttGctttgaggcagtgtcttgcccagatgcccagactggagtgcagtgttgcAGAGGGAGACGGACGTCTCAATAAcgcgcaagtcaaAGATCGAGACCCGACGC chr16:14030782-Variant-G;Patient-73 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Reference G ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CACACGAAGACA CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcacacgaagacaAGATCGAGACCCGACGC chr16:15870833-Reference-G;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Reference G ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct GTTCCGTGGAGT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAgttccgtggagtAGATCGAGACCCGACGC chr16:15870833-Reference-G;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Reference G ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CTGTGCTTGTGC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAActgtgcttgtgcAGATCGAGACCCGACGC chr16:15870833-Reference-G;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Reference G ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct ATCGATTCGCCT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAatcgattcgcctAGATCGAGACCCGACGC chr16:15870833-Reference-G;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative T ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct GCGCGTAGACTT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAgcgcgtagacttAGATCGAGACCCGACGC chr16:15870833-Alternative-T;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative T ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CTTGGTTCCGAC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAActtggttccgacAGATCGAGACCCGACGC chr16:15870833-Alternative-T;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative T ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CAACCGACGAAC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcaaccgacgaacAGATCGAGACCCGACGC chr16:15870833-Alternative-T;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Reference G ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CGATTGTGGATT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaGcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcgattgtggattAGATCGAGACCCGACGC chr16:15870833-Reference-G;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative T ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CGACGTACACGT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcgacgtacacgtAGATCGAGACCCGACGC chr16:15870833-Alternative-T;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative T ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct GTCGCATGATAT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaTcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAgtcgcatgatatAGATCGAGACCCGACGC chr16:15870833-Alternative-T;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Variant A ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct GACCGTCAACGT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAgaccgtcaacgtAGATCGAGACCCGACGC chr16:15870833-Variant-A;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative C ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct AGGTAAGCGTAC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAaggtaagcgtacAGATCGAGACCCGACGC chr16:15870833-Alternative-C;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Variant A ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct ACAAGATGCATC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAacaagatgcatcAGATCGAGACCCGACGC chr16:15870833-Variant-A;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Variant A ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct GAGTCATAGCAT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAgagtcatagcatAGATCGAGACCCGACGC chr16:15870833-Variant-A;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Variant A ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CGGCGGATTACA CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcggcggattacaAGATCGAGACCCGACGC chr16:15870833-Variant-A;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Variant A ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct AGCGTAGTCGAG CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaAcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAagcgtagtcgagAGATCGAGACCCGACGC chr16:15870833-Variant-A;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative C ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CGCGACAACGTT CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAcgcgacaacgttAGATCGAGACCCGACGC chr16:15870833-Alternative-C;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative C ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct ATTGCGTATGAG CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAattgcgtatgagAGATCGAGACCCGACGC chr16:15870833-Alternative-C;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative C ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct CTCACCTTAACG CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAActcaccttaacgAGATCGAGACCCGACGC chr16:15870833-Alternative-C;Patient-105 chr16:15870833-GA DeNovo Patient-105 intronic MYH11 NA 3.85e-05 0.16 5.31 1.47 MYH11 80053 Alternative C ggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggct AATGGTTCCGGC CGACGCGGTCTCTCTCTggatttccacagcactaagcatgatggtgcgggatgatggggctagatcaCcagaccttgtcttcttcaagtcctaaagccagctagcagtgcccgggctAGAGGGAGACGGACGTCTCAATAAaatggttccggcAGATCGAGACCCGACGC chr16:15870833-Alternative-C;Patient-105 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Variant G gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GCGTAGTAGTCG CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgcgtagtagtcgAGATCGAGACCCGACGC chr16:17560304-Variant-G;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Variant G gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca AATGATAGCGCT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAaatgatagcgctAGATCGAGACCCGACGC chr16:17560304-Variant-G;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Variant G gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca ATCGCATTAGGT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAatcgcattaggtAGATCGAGACCCGACGC chr16:17560304-Variant-G;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Reference A gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca AGATGCTATCGT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAagatgctatcgtAGATCGAGACCCGACGC chr16:17560304-Reference-A;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Reference A gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca AGACGCGGTGTT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAagacgcggtgttAGATCGAGACCCGACGC chr16:17560304-Reference-A;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative T gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GATGACGCGGTT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgatgacgcggttAGATCGAGACCCGACGC chr16:17560304-Alternative-T;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative C gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca ATACGAGGACAG CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAatacgaggacagAGATCGAGACCCGACGC chr16:17560304-Alternative-C;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative C gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca CGAATGGTCGAC CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAcgaatggtcgacAGATCGAGACCCGACGC chr16:17560304-Alternative-C;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative C gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GCCTTGATTCAT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgccttgattcatAGATCGAGACCCGACGC chr16:17560304-Alternative-C;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Variant G gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca AGGTGGAGCGTT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAaggtggagcgttAGATCGAGACCCGACGC chr16:17560304-Variant-G;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative T gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca CGTATAGCACAT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAcgtatagcacatAGATCGAGACCCGACGC chr16:17560304-Alternative-T;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative T gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GACCGTATCACG CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgaccgtatcacgAGATCGAGACCCGACGC chr16:17560304-Alternative-T;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative T gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca ATTCCGCGCCTA CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAattccgcgcctaAGATCGAGACCCGACGC chr16:17560304-Alternative-T;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Reference A gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GTTACGATAGTC CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgttacgatagtcAGATCGAGACCCGACGC chr16:17560304-Reference-A;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Variant G gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca CAGGTGGTACGT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacGtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAcaggtggtacgtAGATCGAGACCCGACGC chr16:17560304-Variant-G;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Reference A gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GATGTGGATAGT CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgatgtggatagtAGATCGAGACCCGACGC chr16:17560304-Reference-A;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Reference A gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca AAGATACCGTGA CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacAtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAaagataccgtgaAGATCGAGACCCGACGC chr16:17560304-Reference-A;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative T gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GGTGATACAACC CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacTtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAggtgatacaaccAGATCGAGACCCGACGC chr16:17560304-Alternative-T;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative C gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca CGCGTACCGTTA CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAcgcgtaccgttaAGATCGAGACCCGACGC chr16:17560304-Alternative-C;Patient-21 chr16:17560304-AG DeNovo Patient-21 intronic XYLT1 NA 4.95e-05 0.31 7.29 1.28 XYLT1 4433 Alternative C gtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccacca GATAGGTTACGA CGACGCGGTCTCTCTCTgtcagagatatgcctaaggatatctttgctttctgaggatacacacacacCtacacaatgacgcgatgatgtcaaatctctgctttaactcaagccaccaAGAGGGAGACGGACGTCTCAATAAgataggttacgaAGATCGAGACCCGACGC chr16:17560304-Alternative-C;Patient-21 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Reference G ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttcca GGCTTGGACAAG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAggcttggacaagAGATCGAGACCCGACGC chr16:18868518-Reference-G;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Reference G ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttcca AGTGCTACCGAC CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAagtgctaccgacAGATCGAGACCCGACGC chr16:18868518-Reference-G;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Reference G ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CACGACGTTAAC CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAcacgacgttaacAGATCGAGACCCGACGC chr16:18868518-Reference-G;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Variant A ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttcca ACGAGACACACG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAacgagacacacgAGATCGAGACCCGACGC chr16:18868518-Variant-A;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Reference G ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttcca GTCAAGCGGAGA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAgtcaagcggagaAGATCGAGACCCGACGC chr16:18868518-Reference-G;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative C ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttcca ACGCTTCTTGCG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAacgcttcttgcgAGATCGAGACCCGACGC chr16:18868518-Alternative-C;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Reference G ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttcca ATCGGATTACGT CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattGacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAatcggattacgtAGATCGAGACCCGACGC chr16:18868518-Reference-G;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative T ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttcca AACGCTAACGAA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAaacgctaacgaaAGATCGAGACCCGACGC chr16:18868518-Alternative-T;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Variant A ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttcca ATCTCGGCGCTT CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAatctcggcgcttAGATCGAGACCCGACGC chr16:18868518-Variant-A;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Variant A ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttcca AGCTGCCAAGTC CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAagctgccaagtcAGATCGAGACCCGACGC chr16:18868518-Variant-A;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative T ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CGTTCACGTTAT CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAcgttcacgttatAGATCGAGACCCGACGC chr16:18868518-Alternative-T;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Variant A ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CTAGACTAACGG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAActagactaacggAGATCGAGACCCGACGC chr16:18868518-Variant-A;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative T ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttcca GAGTGCTTGTAA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAgagtgcttgtaaAGATCGAGACCCGACGC chr16:18868518-Alternative-T;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative C ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CGATTCGAGTCG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAcgattcgagtcgAGATCGAGACCCGACGC chr16:18868518-Alternative-C;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative C ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CATTCTGTAACC CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAcattctgtaaccAGATCGAGACCCGACGC chr16:18868518-Alternative-C;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative T ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttcca CGCTCGTAACCA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAcgctcgtaaccaAGATCGAGACCCGACGC chr16:18868518-Alternative-T;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Variant A ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttcca AGTAGCGGATTA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattAacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAagtagcggattaAGATCGAGACCCGACGC chr16:18868518-Variant-A;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative C ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttcca ACTTACCGGTAA CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAacttaccggtaaAGATCGAGACCCGACGC chr16:18868518-Alternative-C;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative C ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttcca AATCTCCGTAAG CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattCacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAaatctccgtaagAGATCGAGACCCGACGC chr16:18868518-Alternative-C;Patient-15 chr16:18868518-GA DeNovo Patient-15 intronic SMG1 NA 3.92e-05 -0.05 1.96 -2.17 ARL6IP1 55660 Alternative T ttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttcca GTTCTGCGTATT CGACGCGGTCTCTCTCTttcaagtaaccactctgcagtggtccctatcttggctgttagcttacattTacatttaacactcaaatttactcagtaacaccagctatcatgttttccaAGAGGGAGACGGACGTCTCAATAAgttctgcgtattAGATCGAGACCCGACGC chr16:18868518-Alternative-T;Patient-15 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative G tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg CATCGCTTAACA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAcatcgcttaacaAGATCGAGACCCGACGC chr16:18896829-Alternative-G;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Reference C tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg ATTAAGGATCGC CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAattaaggatcgcAGATCGAGACCCGACGC chr16:18896829-Reference-C;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Reference C tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GATAGCTGACGG CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAgatagctgacggAGATCGAGACCCGACGC chr16:18896829-Reference-C;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Variant T tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg CAGGCTACCTGA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAcaggctacctgaAGATCGAGACCCGACGC chr16:18896829-Variant-T;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative A tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg CGCGTTGTGGTT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAcgcgttgtggttAGATCGAGACCCGACGC chr16:18896829-Alternative-A;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Variant T tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GGTTCGAATTCT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAggttcgaattctAGATCGAGACCCGACGC chr16:18896829-Variant-T;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Reference C tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg CTAACGTTGGCA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAActaacgttggcaAGATCGAGACCCGACGC chr16:18896829-Reference-C;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative G tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg ATAGGAGTATGC CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAataggagtatgcAGATCGAGACCCGACGC chr16:18896829-Alternative-G;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative G tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg ACTCCTACGTCG CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAactcctacgtcgAGATCGAGACCCGACGC chr16:18896829-Alternative-G;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative G tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GTCAATGGCTTA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAgtcaatggcttaAGATCGAGACCCGACGC chr16:18896829-Alternative-G;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative A tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GTCAATCTAGCT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAgtcaatctagctAGATCGAGACCCGACGC chr16:18896829-Alternative-A;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Reference C tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg AACAGGCGAACG CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAaacaggcgaacgAGATCGAGACCCGACGC chr16:18896829-Reference-C;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative A tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg AGCAGACGATCG CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAagcagacgatcgAGATCGAGACCCGACGC chr16:18896829-Alternative-A;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Variant T tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GGTGTATCGCAC CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAggtgtatcgcacAGATCGAGACCCGACGC chr16:18896829-Variant-T;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Variant T tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg AGACGCCGGTAT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAagacgccggtatAGATCGAGACCCGACGC chr16:18896829-Variant-T;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative G tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GCAGTGATAACA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaGcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAgcagtgataacaAGATCGAGACCCGACGC chr16:18896829-Alternative-G;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Reference C tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg GTCTATTCGGAT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaCcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAgtctattcggatAGATCGAGACCCGACGC chr16:18896829-Reference-C;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative A tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg ACGTAGCCATGA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAacgtagccatgaAGATCGAGACCCGACGC chr16:18896829-Alternative-A;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Alternative A tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg AAGTTCACCACA CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaAcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAAaagttcaccacaAGATCGAGACCCGACGC chr16:18896829-Alternative-A;Patient-106 chr16:18896829-CT DeNovo Patient-106 intronic SMG1 NA 9.66e-05 0.01 2.85 -0.34 SMG1 40896 Variant T tgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctg CTGAACGTAACT CGACGCGGTCTCTCTCTtgttttccatctgtttcctcagatcctcacacacacaaccatccccctcaTcccatgatctgaaaagcggaatgaggaactcaccctaaaattagtgctgAGAGGGAGACGGACGTCTCAATAActgaacgtaactAGATCGAGACCCGACGC chr16:18896829-Variant-T;Patient-106 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative C ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc AGGCCAAGCGAT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAaggccaagcgatAGATCGAGACCCGACGC chr16:19140012-Alternative-C;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative C ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc AAGGTAATGACC CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAaaggtaatgaccAGATCGAGACCCGACGC chr16:19140012-Alternative-C;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Variant A ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc GTTCCGGAAGCA CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAgttccggaagcaAGATCGAGACCCGACGC chr16:19140012-Variant-A;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Variant A ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CGATGCACCATA CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcgatgcaccataAGATCGAGACCCGACGC chr16:19140012-Variant-A;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative C ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CTAATGTAACCG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAActaatgtaaccgAGATCGAGACCCGACGC chr16:19140012-Alternative-C;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative C ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc GATGGCTAGCGT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAgatggctagcgtAGATCGAGACCCGACGC chr16:19140012-Alternative-C;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative C ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CTGAACGCTCCT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctCatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAActgaacgctcctAGATCGAGACCCGACGC chr16:19140012-Alternative-C;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Variant A ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CGAAGTTATTGC CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcgaagttattgcAGATCGAGACCCGACGC chr16:19140012-Variant-A;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Variant A ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CGAAGTCGTTCG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcgaagtcgttcgAGATCGAGACCCGACGC chr16:19140012-Variant-A;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Reference G ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc ACGCGTTCTGGT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAacgcgttctggtAGATCGAGACCCGACGC chr16:19140012-Reference-G;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Variant A ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc ATTCAACGCGAT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctAatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAattcaacgcgatAGATCGAGACCCGACGC chr16:19140012-Variant-A;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Reference G ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CATATACCAACG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcatataccaacgAGATCGAGACCCGACGC chr16:19140012-Reference-G;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Reference G ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc GGAATGGATTGT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAggaatggattgtAGATCGAGACCCGACGC chr16:19140012-Reference-G;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative T ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CGTACTCGTAGG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcgtactcgtaggAGATCGAGACCCGACGC chr16:19140012-Alternative-T;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Reference G ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc GGCGGCATCTAT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAggcggcatctatAGATCGAGACCCGACGC chr16:19140012-Reference-G;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Reference G ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc ACTATCAGGTCA CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctGatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAactatcaggtcaAGATCGAGACCCGACGC chr16:19140012-Reference-G;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative T ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc ACACCAACCAGG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAacaccaaccaggAGATCGAGACCCGACGC chr16:19140012-Alternative-T;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative T ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CGAGAGATACTT CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAcgagagatacttAGATCGAGACCCGACGC chr16:19140012-Alternative-T;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative T ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc GAGACTCGACAG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAAgagactcgacagAGATCGAGACCCGACGC chr16:19140012-Alternative-T;Patient-88 chr16:19140012-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.78 11.69 1.81 COQ7 61094 Alternative T ttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttc CTAGTCATATCG CGACGCGGTCTCTCTCTttcatggtttattcaatcattagtctcctcaaattagcagctatgcctctTatgggcaactgtcgatccttatcaaaatgaaagcattaaaacatatttcAGAGGGAGACGGACGTCTCAATAActagtcatatcgAGATCGAGACCCGACGC chr16:19140012-Alternative-T;Patient-88 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Variant T gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccct ATAGTACGGCAA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAatagtacggcaaAGATCGAGACCCGACGC chr16:20255790-Variant-T;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative A gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccct GTATCGGTAGTT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgtatcggtagttAGATCGAGACCCGACGC chr16:20255790-Alternative-A;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Variant T gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccct GCGTGGTCTGAA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgcgtggtctgaaAGATCGAGACCCGACGC chr16:20255790-Variant-T;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Reference G gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccct CAGTTATTGTGG CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAcagttattgtggAGATCGAGACCCGACGC chr16:20255790-Reference-G;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative A gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccct GGTACGCTCTGA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAggtacgctctgaAGATCGAGACCCGACGC chr16:20255790-Alternative-A;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative A gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccct AGAGTATCTCGT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAagagtatctcgtAGATCGAGACCCGACGC chr16:20255790-Alternative-A;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Reference G gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccct GTATTGCCGAAT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgtattgccgaatAGATCGAGACCCGACGC chr16:20255790-Reference-G;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative C gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccct CATATACCGTAC CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAcatataccgtacAGATCGAGACCCGACGC chr16:20255790-Alternative-C;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Reference G gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccct GATTGTGTCGGC CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgattgtgtcggcAGATCGAGACCCGACGC chr16:20255790-Reference-G;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative C gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccct ACATGTCTGTCA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAacatgtctgtcaAGATCGAGACCCGACGC chr16:20255790-Alternative-C;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative C gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccct GCACGTAGACCA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgcacgtagaccaAGATCGAGACCCGACGC chr16:20255790-Alternative-C;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Reference G gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccct GCGAGAACGAAT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgcgagaacgaatAGATCGAGACCCGACGC chr16:20255790-Reference-G;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative C gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccct AACCGGCGACTT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAaaccggcgacttAGATCGAGACCCGACGC chr16:20255790-Alternative-C;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative C gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccct ACTTCCGAAGTT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacCcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAacttccgaagttAGATCGAGACCCGACGC chr16:20255790-Alternative-C;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Variant T gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccct CTCGGTCATAAT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAActcggtcataatAGATCGAGACCCGACGC chr16:20255790-Variant-T;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Variant T gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccct GACGACGCATTC CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAgacgacgcattcAGATCGAGACCCGACGC chr16:20255790-Variant-T;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Variant T gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccct CTAGAGGTAACT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacTcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAActagaggtaactAGATCGAGACCCGACGC chr16:20255790-Variant-T;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative A gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccct AGTGACATAGCA CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAagtgacatagcaAGATCGAGACCCGACGC chr16:20255790-Alternative-A;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Alternative A gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccct AGTTGACCTGCG CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacAcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAagttgacctgcgAGATCGAGACCCGACGC chr16:20255790-Alternative-A;Patient-11 chr16:20255790-GT DeNovo Patient-11 intergenic NA 0.000513 -0.06 1.76 1.19 GP2 83044 Reference G gctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccct CGGCTACGTGAT CGACGCGGTCTCTCTCTgctgaatctctcatgcttctcatcacagcacaccattgccactggtctacGcaatgccttctcattttatttatctctaccccattcactcccagtccctAGAGGGAGACGGACGTCTCAATAAcggctacgtgatAGATCGAGACCCGACGC chr16:20255790-Reference-G;Patient-11 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Reference G gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AGGTGGAATGAA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAaggtggaatgaaAGATCGAGACCCGACGC chr16:203374-Reference-G;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative C gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CGATCCAATCTT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAcgatccaatcttAGATCGAGACCCGACGC chr16:203374-Alternative-C;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Reference G gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctg ACGAGCTAGCGT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAacgagctagcgtAGATCGAGACCCGACGC chr16:203374-Reference-G;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative C gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctg ATCGAACCTGGT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAatcgaacctggtAGATCGAGACCCGACGC chr16:203374-Alternative-C;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative T gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctg ACTTCACGTTGT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAacttcacgttgtAGATCGAGACCCGACGC chr16:203374-Alternative-T;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Reference G gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctg GCGCATATTCAT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAgcgcatattcatAGATCGAGACCCGACGC chr16:203374-Reference-G;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative T gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CTGTGGATTACA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAActgtggattacaAGATCGAGACCCGACGC chr16:203374-Alternative-T;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative T gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CGTCGTCTTGGT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAcgtcgtcttggtAGATCGAGACCCGACGC chr16:203374-Alternative-T;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Variant A gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CTCATCGGAGGT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAActcatcggaggtAGATCGAGACCCGACGC chr16:203374-Variant-A;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Variant A gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctg ATTCTGGTTCCA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAattctggttccaAGATCGAGACCCGACGC chr16:203374-Variant-A;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Reference G gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctg GCGAGTGGAATT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAgcgagtggaattAGATCGAGACCCGACGC chr16:203374-Reference-G;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative C gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AGGCCGGCTAAT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAaggccggctaatAGATCGAGACCCGACGC chr16:203374-Alternative-C;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative T gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctg GGAGGTTGGTAA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAggaggttggtaaAGATCGAGACCCGACGC chr16:203374-Alternative-T;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative C gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctg GGCGGATAGTCA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAggcggatagtcaAGATCGAGACCCGACGC chr16:203374-Alternative-C;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Variant A gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AAGGTTGAGCAT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAaaggttgagcatAGATCGAGACCCGACGC chr16:203374-Variant-A;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative T gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AGTGCTCTTAAG CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagTgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAagtgctcttaagAGATCGAGACCCGACGC chr16:203374-Alternative-T;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Variant A gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AGATCCTGGCTA CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAagatcctggctaAGATCGAGACCCGACGC chr16:203374-Variant-A;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Variant A gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctg AAGTGTACCGAT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagAgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAaagtgtaccgatAGATCGAGACCCGACGC chr16:203374-Variant-A;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Alternative C gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CAACTCACGACG CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagCgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAcaactcacgacgAGATCGAGACCCGACGC chr16:203374-Alternative-C;Patient-19 chr16:203374-GA DeNovo Patient-19 intronic HBZ NA 4.95e-05 -0.05 1.89 -1.5 HBZ 519 Reference G gcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctg CATCGCGACACT CGACGCGGTCTCTCTCTgcccaggttctgacaagcagagggtgaaaggtttcgttctaggcctgaagGgccttacagggcagccagggcactacagcctctaaagtcccagcatctgAGAGGGAGACGGACGTCTCAATAAcatcgcgacactAGATCGAGACCCGACGC chr16:203374-Reference-G;Patient-19 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Variant C tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GACGGTGTCACT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAgacggtgtcactAGATCGAGACCCGACGC chr16:20767136-Variant-C;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative A tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ATCGCACGCATA CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAatcgcacgcataAGATCGAGACCCGACGC chr16:20767136-Alternative-A;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative G tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GCACGTTATCGG CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAgcacgttatcggAGATCGAGACCCGACGC chr16:20767136-Alternative-G;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative A tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GGTACGAATATC CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAggtacgaatatcAGATCGAGACCCGACGC chr16:20767136-Alternative-A;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Reference T tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GGCTAATAGCAT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAggctaatagcatAGATCGAGACCCGACGC chr16:20767136-Reference-T;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative A tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct CATCAATCAGGT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAcatcaatcaggtAGATCGAGACCCGACGC chr16:20767136-Alternative-A;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative G tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ATCACGACCATT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAatcacgaccattAGATCGAGACCCGACGC chr16:20767136-Alternative-G;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative A tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct CGGTAAGAATCA CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAcggtaagaatcaAGATCGAGACCCGACGC chr16:20767136-Alternative-A;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative A tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct CAGGTAGACGGT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgAgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAcaggtagacggtAGATCGAGACCCGACGC chr16:20767136-Alternative-A;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Reference T tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GGTGTTAGTGTT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAggtgttagtgttAGATCGAGACCCGACGC chr16:20767136-Reference-T;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative G tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GGATGACACGGT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAggatgacacggtAGATCGAGACCCGACGC chr16:20767136-Alternative-G;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Reference T tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct AGTGACAAGTAC CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAagtgacaagtacAGATCGAGACCCGACGC chr16:20767136-Reference-T;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative G tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ATCTGTCTAACC CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAatctgtctaaccAGATCGAGACCCGACGC chr16:20767136-Alternative-G;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Reference T tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct CTGCATGTTGCG CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAActgcatgttgcgAGATCGAGACCCGACGC chr16:20767136-Reference-T;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Reference T tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ACTACCGATCTA CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgTgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAactaccgatctaAGATCGAGACCCGACGC chr16:20767136-Reference-T;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Alternative G tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GGTTGTCGACGT CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgGgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAggttgtcgacgtAGATCGAGACCCGACGC chr16:20767136-Alternative-G;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Variant C tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct GAGAGTACGTTC CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAgagagtacgttcAGATCGAGACCCGACGC chr16:20767136-Variant-C;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Variant C tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ACTGTTCAGCAA CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAactgttcagcaaAGATCGAGACCCGACGC chr16:20767136-Variant-C;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Variant C tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct ATATACTTCCGG CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAAatatacttccggAGATCGAGACCCGACGC chr16:20767136-Variant-C;Patient-26 chr16:20767136-TC DeNovo Patient-26 intergenic NA 0.000513 0.06 3.56 0 THUMPD1 13936 Variant C tcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacct CTCTAGTACGCG CGACGCGGTCTCTCTCTtcctaatgctatccctcccccccccccaccccacagcagtccccagagtgCgatgttccccttcctgtgtccatgtgttctcattgttcaattcccacctAGAGGGAGACGGACGTCTCAATAActctagtacgcgAGATCGAGACCCGACGC chr16:20767136-Variant-C;Patient-26 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Reference G tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca ATCTCAAGCGAT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAatctcaagcgatAGATCGAGACCCGACGC chr16:2120798-Reference-G;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Reference G tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca GTTGGTCGCGTT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAgttggtcgcgttAGATCGAGACCCGACGC chr16:2120798-Reference-G;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Reference G tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CAACGTTCGTAA CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcaacgttcgtaaAGATCGAGACCCGACGC chr16:2120798-Reference-G;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative T tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CACTTCTTGTTC CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcacttcttgttcAGATCGAGACCCGACGC chr16:2120798-Alternative-T;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative T tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca ACTCTGGTCAAT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAactctggtcaatAGATCGAGACCCGACGC chr16:2120798-Alternative-T;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Reference G tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca GCGTCATGATTA CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAgcgtcatgattaAGATCGAGACCCGACGC chr16:2120798-Reference-G;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative T tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca ACCGGTGTACAG CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAaccggtgtacagAGATCGAGACCCGACGC chr16:2120798-Alternative-T;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Reference G tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca GAATTAACCGCA CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacGgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAgaattaaccgcaAGATCGAGACCCGACGC chr16:2120798-Reference-G;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Variant A tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CGATTGCGCTGA CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcgattgcgctgaAGATCGAGACCCGACGC chr16:2120798-Variant-A;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative T tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CGGAATGTCGGT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcggaatgtcggtAGATCGAGACCCGACGC chr16:2120798-Alternative-T;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Variant A tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca AGTGTCTAATCG CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAagtgtctaatcgAGATCGAGACCCGACGC chr16:2120798-Variant-A;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Variant A tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca GTAACCACGTTC CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAgtaaccacgttcAGATCGAGACCCGACGC chr16:2120798-Variant-A;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative T tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca AGCTACGGAACT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacTgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAagctacggaactAGATCGAGACCCGACGC chr16:2120798-Alternative-T;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative C tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CGAGTGTATCCT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcgagtgtatcctAGATCGAGACCCGACGC chr16:2120798-Alternative-C;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative C tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca AGTCGCTTAGAT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAagtcgcttagatAGATCGAGACCCGACGC chr16:2120798-Alternative-C;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative C tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CAGGCGTATTAA CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcaggcgtattaaAGATCGAGACCCGACGC chr16:2120798-Alternative-C;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Variant A tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CTACGTTAGACG CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAActacgttagacgAGATCGAGACCCGACGC chr16:2120798-Variant-A;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Variant A tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CATGAGTCAATC CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacAgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcatgagtcaatcAGATCGAGACCCGACGC chr16:2120798-Variant-A;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative C tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca CGGAGATGGCAT CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAcggagatggcatAGATCGAGACCCGACGC chr16:2120798-Alternative-C;Patient-89 chr16:2120798-GA Inherited Patient-89 intronic TSC2 3.2e-05 0.000197961 -0.01 2.5 -2.55 TSC2 22807 Alternative C tccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggca ACGATACGCATC CGACGCGGTCTCTCTCTtccctctgcctgcagtccacacatctgtggcttgtcgctctaagccgcacCgtgacatgggttggggcagagaaaaggacgcacggcgacttccggggcaAGAGGGAGACGGACGTCTCAATAAacgatacgcatcAGATCGAGACCCGACGC chr16:2120798-Alternative-C;Patient-89 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative T tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat AGACCGGATTGC CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAagaccggattgcAGATCGAGACCCGACGC chr16:2154270-Alternative-T;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative T tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat AAGTTCCGTACT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAaagttccgtactAGATCGAGACCCGACGC chr16:2154270-Alternative-T;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative T tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CAAGGAATGCGA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcaaggaatgcgaAGATCGAGACCCGACGC chr16:2154270-Alternative-T;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Reference G tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat AGATGAACTGCT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAagatgaactgctAGATCGAGACCCGACGC chr16:2154270-Reference-G;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative T tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CGCCTTCGATGA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcgccttcgatgaAGATCGAGACCCGACGC chr16:2154270-Alternative-T;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Variant A tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GATGTCCGTCGA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgatgtccgtcgaAGATCGAGACCCGACGC chr16:2154270-Variant-A;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Reference G tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CAGCGGCGTTAT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcagcggcgttatAGATCGAGACCCGACGC chr16:2154270-Reference-G;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Reference G tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CACGCGTGTAGA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcacgcgtgtagaAGATCGAGACCCGACGC chr16:2154270-Reference-G;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Variant A tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GACATGTCAACT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgacatgtcaactAGATCGAGACCCGACGC chr16:2154270-Variant-A;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative C tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CAATTGCACCGA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcaattgcaccgaAGATCGAGACCCGACGC chr16:2154270-Alternative-C;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Variant A tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat AGGTTGTCTCAA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAaggttgtctcaaAGATCGAGACCCGACGC chr16:2154270-Variant-A;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Variant A tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CTACGGCATCAG CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAActacggcatcagAGATCGAGACCCGACGC chr16:2154270-Variant-A;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative T tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat AGCGGAGTTCGT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgTggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAagcggagttcgtAGATCGAGACCCGACGC chr16:2154270-Alternative-T;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative C tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CATGTGGTAGAA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcatgtggtagaaAGATCGAGACCCGACGC chr16:2154270-Alternative-C;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative C tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GTGGCTATTCGG CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgtggctattcggAGATCGAGACCCGACGC chr16:2154270-Alternative-C;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative C tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GAAGTGTCTGAG CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgaagtgtctgagAGATCGAGACCCGACGC chr16:2154270-Alternative-C;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Alternative C tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat ACAGATCACACT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgCggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAacagatcacactAGATCGAGACCCGACGC chr16:2154270-Alternative-C;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Variant A tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GAGCAGCACATT CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgAggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgagcagcacattAGATCGAGACCCGACGC chr16:2154270-Variant-A;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Reference G tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat GCATGACTAACG CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAgcatgactaacgAGATCGAGACCCGACGC chr16:2154270-Reference-G;Patient-55 chr16:2154270-GA Inherited Patient-55 intronic PKD1 NA 4.95e-05 -0.06 1.84 0.41 PKD1 31628 Reference G tgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaat CATATGGAGACA CGACGCGGTCTCTCTCTtgagggggatgaggaagatgaggggaatggacaaaaggacggggaggacgGggggggaaatggagaaaaggggagagagatggagaaaagggatggtaatAGAGGGAGACGGACGTCTCAATAAcatatggagacaAGATCGAGACCCGACGC chr16:2154270-Reference-G;Patient-55 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative G tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GTCGATTGGTTA CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgtcgattggttaAGATCGAGACCCGACGC chr16:21905602-Alternative-G;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative T tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CTAACGAGTACG CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAActaacgagtacgAGATCGAGACCCGACGC chr16:21905602-Alternative-T;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative T tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg AGCGTCCACTGA CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAagcgtccactgaAGATCGAGACCCGACGC chr16:21905602-Alternative-T;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative T tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg ACAAGACAGTAC CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAacaagacagtacAGATCGAGACCCGACGC chr16:21905602-Alternative-T;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative G tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CATCTCATTCCT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAcatctcattcctAGATCGAGACCCGACGC chr16:21905602-Alternative-G;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative G tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CATATACGGAGA CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAcatatacggagaAGATCGAGACCCGACGC chr16:21905602-Alternative-G;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative G tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg AGTTAGGAGTCT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAagttaggagtctAGATCGAGACCCGACGC chr16:21905602-Alternative-G;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative G tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CTAACATTCGCG CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaGataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAActaacattcgcgAGATCGAGACCCGACGC chr16:21905602-Alternative-G;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Reference A tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CGATGGACCTAC CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAcgatggacctacAGATCGAGACCCGACGC chr16:21905602-Reference-A;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Reference A tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GGCTAGTAGTAT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAggctagtagtatAGATCGAGACCCGACGC chr16:21905602-Reference-A;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative T tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GTAGAGTAGTAC CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgtagagtagtacAGATCGAGACCCGACGC chr16:21905602-Alternative-T;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Alternative T tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GCGACCGGATAT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaTataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgcgaccggatatAGATCGAGACCCGACGC chr16:21905602-Alternative-T;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Reference A tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CTCGTACGTTAT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAActcgtacgttatAGATCGAGACCCGACGC chr16:21905602-Reference-A;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Reference A tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CTCTGCGATCCT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAActctgcgatcctAGATCGAGACCCGACGC chr16:21905602-Reference-A;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Variant C tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GATCGATACTGA CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgatcgatactgaAGATCGAGACCCGACGC chr16:21905602-Variant-C;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Variant C tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CGAAGACTGAAC CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAcgaagactgaacAGATCGAGACCCGACGC chr16:21905602-Variant-C;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Reference A tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg CTAGATCCTTGT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaAataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAActagatccttgtAGATCGAGACCCGACGC chr16:21905602-Reference-A;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Variant C tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg ACATCTAAGCGT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAacatctaagcgtAGATCGAGACCCGACGC chr16:21905602-Variant-C;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Variant C tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GCACGCGAAGTT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgcacgcgaagttAGATCGAGACCCGACGC chr16:21905602-Variant-C;Patient-85 chr16:21905602-AC Inherited Patient-85 intergenic 7.1e-05 0.000512821 0.01 2.84 0 UQCRC2 59006 Variant C tgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaagg GCGTTATCATGT CGACGCGGTCTCTCTCTtgcactccagcccagttgacaacagcatgactctgtctccccaaaaaaaaCataaaataaaataaaaaaaaaaaaaagtccccccaccaccaccaaaaggAGAGGGAGACGGACGTCTCAATAAgcgttatcatgtAGATCGAGACCCGACGC chr16:21905602-Variant-C;Patient-85 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Reference T ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGATCAGTTGCT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagatcagttgctAGATCGAGACCCGACGC chr16:23370806-Reference-T;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative G ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg ACAACGCTCATA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAacaacgctcataAGATCGAGACCCGACGC chr16:23370806-Alternative-G;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Variant C ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg ATCTCGACTCTA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAatctcgactctaAGATCGAGACCCGACGC chr16:23370806-Variant-C;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Variant C ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg ACCACAGCACCT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAaccacagcacctAGATCGAGACCCGACGC chr16:23370806-Variant-C;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative G ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGCAGGTAAGGT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagcaggtaaggtAGATCGAGACCCGACGC chr16:23370806-Alternative-G;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative A ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CAGCATCTGGCA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcagcatctggcaAGATCGAGACCCGACGC chr16:23370806-Alternative-A;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Variant C ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg GTCGCTTCTCGA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAgtcgcttctcgaAGATCGAGACCCGACGC chr16:23370806-Variant-C;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Reference T ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CGTTAGGACGCT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcgttaggacgctAGATCGAGACCCGACGC chr16:23370806-Reference-T;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Reference T ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CACATATTCGTC CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcacatattcgtcAGATCGAGACCCGACGC chr16:23370806-Reference-T;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative A ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGAATCGGCACG CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagaatcggcacgAGATCGAGACCCGACGC chr16:23370806-Alternative-A;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Variant C ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGCATATCGACC CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagcatatcgaccAGATCGAGACCCGACGC chr16:23370806-Variant-C;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative G ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CAGGATTATGAG CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcaggattatgagAGATCGAGACCCGACGC chr16:23370806-Alternative-G;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative G ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGCGCGAGATGT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagcgcgagatgtAGATCGAGACCCGACGC chr16:23370806-Alternative-G;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Variant C ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CTCGCTTCGGAA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcCtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAActcgcttcggaaAGATCGAGACCCGACGC chr16:23370806-Variant-C;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Reference T ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGTGACGAAGTT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagtgacgaagttAGATCGAGACCCGACGC chr16:23370806-Reference-T;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative A ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CGAGATATGTCA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcgagatatgtcaAGATCGAGACCCGACGC chr16:23370806-Alternative-A;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Reference T ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg ATAGTGGAATCG CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcTtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAatagtggaatcgAGATCGAGACCCGACGC chr16:23370806-Reference-T;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative A ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CAGGTGTTGCGT CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAcaggtgttgcgtAGATCGAGACCCGACGC chr16:23370806-Alternative-A;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative A ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg AGTACGGTATGA CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcAtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAAagtacggtatgaAGATCGAGACCCGACGC chr16:23370806-Alternative-A;Patient-91 chr16:23370806-TC Inherited Patient-91 intronic SCNN1B 6.4e-05 0.000126 0.09 4.15 0.5 SCNN1B 57214 Alternative G ccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttg CTCTACACAACC CGACGCGGTCTCTCTCTccatccaggcaccttagcatagagatctcagccaactgctctctgagctcGtcctcactcccacagttgactggtcatctgccttcctgagtcagccttgAGAGGGAGACGGACGTCTCAATAActctacacaaccAGATCGAGACCCGACGC chr16:23370806-Alternative-G;Patient-91 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative C gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CACGAACACCAC CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcacgaacaccacAGATCGAGACCCGACGC chr16:23565445-Alternative-C;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Reference G gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CGCAACGGCTTA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcgcaacggcttaAGATCGAGACCCGACGC chr16:23565445-Reference-G;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative C gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CTACGACTGACG CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAActacgactgacgAGATCGAGACCCGACGC chr16:23565445-Alternative-C;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative C gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc ATAGGCGAGACA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAataggcgagacaAGATCGAGACCCGACGC chr16:23565445-Alternative-C;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative T gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CGCCAGTAGTAC CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcgccagtagtacAGATCGAGACCCGACGC chr16:23565445-Alternative-T;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative T gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GGCGGATTCAAG CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAggcggattcaagAGATCGAGACCCGACGC chr16:23565445-Alternative-T;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Variant A gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CACGCGAACTTC CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcacgcgaacttcAGATCGAGACCCGACGC chr16:23565445-Variant-A;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative T gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GCATGCAATCAG CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAgcatgcaatcagAGATCGAGACCCGACGC chr16:23565445-Alternative-T;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative C gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc AGCAGCAACAAT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAagcagcaacaatAGATCGAGACCCGACGC chr16:23565445-Alternative-C;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative T gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc ACATGACAAGCA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAacatgacaagcaAGATCGAGACCCGACGC chr16:23565445-Alternative-T;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Variant A gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc ACTGCGTCGGAT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAactgcgtcggatAGATCGAGACCCGACGC chr16:23565445-Variant-A;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Variant A gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc AAGATGCTCCTA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAaagatgctcctaAGATCGAGACCCGACGC chr16:23565445-Variant-A;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Reference G gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc AAGTAGCCTTGA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAaagtagccttgaAGATCGAGACCCGACGC chr16:23565445-Reference-G;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Reference G gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GGATAGTGGTTA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAggatagtggttaAGATCGAGACCCGACGC chr16:23565445-Reference-G;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative C gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CGTTCTGTGTTA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacCtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcgttctgtgttaAGATCGAGACCCGACGC chr16:23565445-Alternative-C;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Variant A gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GTCTATACTGCT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAgtctatactgctAGATCGAGACCCGACGC chr16:23565445-Variant-A;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Reference G gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc CGTGGAGGTAGT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAcgtggaggtagtAGATCGAGACCCGACGC chr16:23565445-Reference-G;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Variant A gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc AAGAACGTAGCT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacAtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAaagaacgtagctAGATCGAGACCCGACGC chr16:23565445-Variant-A;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Alternative T gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GGATCGAACGAT CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacTtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAggatcgaacgatAGATCGAGACCCGACGC chr16:23565445-Alternative-T;Patient-82 chr16:23565445-GA DeNovo Patient-82 intronic EARS2 NA 4.95e-05 -0.39 0.2 -1.19 EARS2 3250 Reference G gtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggc GACGATAGATCA CGACGCGGTCTCTCTCTgtcacggctcactgcagcctcaaccacccaggctcaatcaatcctcccacGtcagcctcccaagtagctggaactacaagtgtacaccaccatgcccggcAGAGGGAGACGGACGTCTCAATAAgacgatagatcaAGATCGAGACCCGACGC chr16:23565445-Reference-G;Patient-82 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative G agtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcac CTGCTAGAACAC CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAActgctagaacacAGATCGAGACCCGACGC chr16:23635217-Alternative-G;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Reference T agtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcac GACAACGACGGT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgacaacgacggtAGATCGAGACCCGACGC chr16:23635217-Reference-T;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative G agtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcac GAGATCGCTCGT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgagatcgctcgtAGATCGAGACCCGACGC chr16:23635217-Alternative-G;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Variant C agtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcac GGTAGGAGAATC CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAggtaggagaatcAGATCGAGACCCGACGC chr16:23635217-Variant-C;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Variant C agtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcac GACGGTCGTGAA CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgacggtcgtgaaAGATCGAGACCCGACGC chr16:23635217-Variant-C;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Reference T agtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcac AGGTTGGTCATT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAaggttggtcattAGATCGAGACCCGACGC chr16:23635217-Reference-T;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Reference T agtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcac AGGTAGCGTGCA CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAaggtagcgtgcaAGATCGAGACCCGACGC chr16:23635217-Reference-T;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Reference T agtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcac CAACAGGAGTAT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAcaacaggagtatAGATCGAGACCCGACGC chr16:23635217-Reference-T;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Variant C agtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcac CAACGGAGTACG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAcaacggagtacgAGATCGAGACCCGACGC chr16:23635217-Variant-C;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative G agtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcac CTTACGATGCGG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAActtacgatgcggAGATCGAGACCCGACGC chr16:23635217-Alternative-G;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative G agtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcac AATCTCGTCAAG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAaatctcgtcaagAGATCGAGACCCGACGC chr16:23635217-Alternative-G;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Reference T agtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcac GATAGATGCGCT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctTtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgatagatgcgctAGATCGAGACCCGACGC chr16:23635217-Reference-T;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative G agtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcac AGTACTCTACAG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctGtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAagtactctacagAGATCGAGACCCGACGC chr16:23635217-Alternative-G;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative A agtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcac GTTCTAATCACG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgttctaatcacgAGATCGAGACCCGACGC chr16:23635217-Alternative-A;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative A agtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcac CTATCATTACGG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAActatcattacggAGATCGAGACCCGACGC chr16:23635217-Alternative-A;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative A agtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcac GGAATGGCACGT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAggaatggcacgtAGATCGAGACCCGACGC chr16:23635217-Alternative-A;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Variant C agtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcac GTGCCGCATAAT CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgtgccgcataatAGATCGAGACCCGACGC chr16:23635217-Variant-C;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative A agtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcac GTCAGACAACGG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAgtcagacaacggAGATCGAGACCCGACGC chr16:23635217-Alternative-A;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Alternative A agtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcac AATCGTATCGAC CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctAtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAaatcgtatcgacAGATCGAGACCCGACGC chr16:23635217-Alternative-A;Patient-73 chr16:23635217-TC DeNovo Patient-73 intronic PALB2 NA 4.95e-05 0.39 8.28 3.56 PALB2 17460 Variant C agtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcac CAACTAGTAAGG CGACGCGGTCTCTCTCTagtcagggatgtcattctattgatttttttttaaacaaatctctctctctCtagatctttcagattctttcaagactcaagcctaggttattacctgcacAGAGGGAGACGGACGTCTCAATAAcaactagtaaggAGATCGAGACCCGACGC chr16:23635217-Variant-C;Patient-73 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Reference T aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CGAGTTGCGTGT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcgagttgcgtgtAGATCGAGACCCGACGC chr16:27377537-Reference-T;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative A aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CAACTAGCCATA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcaactagccataAGATCGAGACCCGACGC chr16:27377537-Alternative-A;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Variant C aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GCGTCCTAGCTA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgcgtcctagctaAGATCGAGACCCGACGC chr16:27377537-Variant-C;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative A aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag ACCGTATCGACC CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAaccgtatcgaccAGATCGAGACCCGACGC chr16:27377537-Alternative-A;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative A aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GCGAGTCTGAAC CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgcgagtctgaacAGATCGAGACCCGACGC chr16:27377537-Alternative-A;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative A aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag AGTAGGTGGTCG CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAagtaggtggtcgAGATCGAGACCCGACGC chr16:27377537-Alternative-A;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative A aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CGATTCTGTGTT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatAtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcgattctgtgttAGATCGAGACCCGACGC chr16:27377537-Alternative-A;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Variant C aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag ACCGATACAGAA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAaccgatacagaaAGATCGAGACCCGACGC chr16:27377537-Variant-C;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Reference T aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CTATGATCGCGG CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAActatgatcgcggAGATCGAGACCCGACGC chr16:27377537-Reference-T;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Reference T aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag ACTCGCATCCAT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAactcgcatccatAGATCGAGACCCGACGC chr16:27377537-Reference-T;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative G aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag AAGGACGGACAT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAaaggacggacatAGATCGAGACCCGACGC chr16:27377537-Alternative-G;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Variant C aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GCCACTTGAATA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgccacttgaataAGATCGAGACCCGACGC chr16:27377537-Variant-C;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Variant C aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GAGTTGGATGAT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgagttggatgatAGATCGAGACCCGACGC chr16:27377537-Variant-C;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Reference T aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CACATAAGACCT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcacataagacctAGATCGAGACCCGACGC chr16:27377537-Reference-T;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Reference T aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CGCGTAGTCGTT CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatTtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcgcgtagtcgttAGATCGAGACCCGACGC chr16:27377537-Reference-T;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Variant C aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CAACACTAGGCG CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatCtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcaacactaggcgAGATCGAGACCCGACGC chr16:27377537-Variant-C;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative G aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag CATCATACGGCA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAcatcatacggcaAGATCGAGACCCGACGC chr16:27377537-Alternative-G;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative G aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GATGCTGACGTC CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgatgctgacgtcAGATCGAGACCCGACGC chr16:27377537-Alternative-G;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative G aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GTCGTTGTTCTA CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgtcgttgttctaAGATCGAGACCCGACGC chr16:27377537-Alternative-G;Patient-22 chr16:27377537-TC Inherited Patient-22 intergenic 0.000319 0.00205 0.02 2.94 0.24 NSMCE1 97423 Alternative G aacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccag GTGCTTAGCGAC CGACGCGGTCTCTCTCTaacacctccttgcgccaggcatgatggctcatggctgtaatcccagcaatGtgggaggctgaggcgggtgtatcacttgaggtgaggagttcaagaccagAGAGGGAGACGGACGTCTCAATAAgtgcttagcgacAGATCGAGACCCGACGC chr16:27377537-Alternative-G;Patient-22 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative T tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GTTACTTGTTCG CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAgttacttgttcgAGATCGAGACCCGACGC chr16:27531597-Alternative-T;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Reference G tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GAGATGGTACGA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAgagatggtacgaAGATCGAGACCCGACGC chr16:27531597-Reference-G;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Reference G tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGTCGCGCTATA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggtcgcgctataAGATCGAGACCCGACGC chr16:27531597-Reference-G;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Variant A tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GAGTAATCACGA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAgagtaatcacgaAGATCGAGACCCGACGC chr16:27531597-Variant-A;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Variant A tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa CTTATAACGCGT CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAActtataacgcgtAGATCGAGACCCGACGC chr16:27531597-Variant-A;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Reference G tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa AGTGAGGTGGAG CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAagtgaggtggagAGATCGAGACCCGACGC chr16:27531597-Reference-G;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Variant A tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GTAGTAGTGCGG CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAgtagtagtgcggAGATCGAGACCCGACGC chr16:27531597-Variant-A;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative T tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa CAGCGAGACAAC CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAcagcgagacaacAGATCGAGACCCGACGC chr16:27531597-Alternative-T;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Reference G tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGTACTTAATCG CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggtacttaatcgAGATCGAGACCCGACGC chr16:27531597-Reference-G;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative C tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGATCAAGCATC CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggatcaagcatcAGATCGAGACCCGACGC chr16:27531597-Alternative-C;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative T tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa CTATCGTATTGC CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAActatcgtattgcAGATCGAGACCCGACGC chr16:27531597-Alternative-T;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Variant A tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa AACGAGTCAACA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAaacgagtcaacaAGATCGAGACCCGACGC chr16:27531597-Variant-A;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative T tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GCGCAAGCTACA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAgcgcaagctacaAGATCGAGACCCGACGC chr16:27531597-Alternative-T;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative T tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGAGTCGTAACG CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccTgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggagtcgtaacgAGATCGAGACCCGACGC chr16:27531597-Alternative-T;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Reference G tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGCCGACATACT CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccGgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggccgacatactAGATCGAGACCCGACGC chr16:27531597-Reference-G;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative C tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa CGTGGACCTAGT CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAcgtggacctagtAGATCGAGACCCGACGC chr16:27531597-Alternative-C;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative C tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGTACGCATCCA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggtacgcatccaAGATCGAGACCCGACGC chr16:27531597-Alternative-C;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Variant A tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa CGACGCTGAGAA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccAgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAcgacgctgagaaAGATCGAGACCCGACGC chr16:27531597-Variant-A;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative C tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa GGCTTCTAATGT CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAggcttctaatgtAGATCGAGACCCGACGC chr16:27531597-Alternative-C;Patient-101 chr16:27531597-GA DeNovo Patient-101 intronic GTF3C1 0.00051 9.9e-05 -0.01 2.53 0.24 GTF3C1 29653 Alternative C tgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaa ACTCGGACGGAA CGACGCGGTCTCTCTCTtgcctcagcttcctgagtagctgggattacaggcgtgcgctaacacacccCgctaatttttgtatttttagtagagatggggtttcaccatgttggccaaAGAGGGAGACGGACGTCTCAATAAactcggacggaaAGATCGAGACCCGACGC chr16:27531597-Alternative-C;Patient-101 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Variant G tcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GAGTCCTGAAGG CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgagtcctgaaggAGATCGAGACCCGACGC chr16:27548083-Variant-G;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Variant G tcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GATTGCGTAGAA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgattgcgtagaaAGATCGAGACCCGACGC chr16:27548083-Variant-G;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Variant G tcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct ACCTCATACGTC CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAacctcatacgtcAGATCGAGACCCGACGC chr16:27548083-Variant-G;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Variant G tcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct AAGACGACGGAG CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAaagacgacggagAGATCGAGACCCGACGC chr16:27548083-Variant-G;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative T tcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GTTGTGCCGCAA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgttgtgccgcaaAGATCGAGACCCGACGC chr16:27548083-Alternative-T;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Reference C tcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GCGAGATTGCAG CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgcgagattgcagAGATCGAGACCCGACGC chr16:27548083-Reference-C;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Variant G tcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct ACTATACCGGCA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggGtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAactataccggcaAGATCGAGACCCGACGC chr16:27548083-Variant-G;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative T tcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct CATTCGCCAGCT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAcattcgccagctAGATCGAGACCCGACGC chr16:27548083-Alternative-T;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative T tcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct CGGCGTTACACT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAcggcgttacactAGATCGAGACCCGACGC chr16:27548083-Alternative-T;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative T tcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct CTCAATGCGCCA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAActcaatgcgccaAGATCGAGACCCGACGC chr16:27548083-Alternative-T;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative A tcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct ACCGGTGTTGTC CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAaccggtgttgtcAGATCGAGACCCGACGC chr16:27548083-Alternative-A;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative A tcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct AGGCCATCACGA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAaggccatcacgaAGATCGAGACCCGACGC chr16:27548083-Alternative-A;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative T tcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct CATCAAGACGTT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggTtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAcatcaagacgttAGATCGAGACCCGACGC chr16:27548083-Alternative-T;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative A tcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GCATGTCGTGGT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgcatgtcgtggtAGATCGAGACCCGACGC chr16:27548083-Alternative-A;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Reference C tcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct AACCGCCATTCG CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAaaccgccattcgAGATCGAGACCCGACGC chr16:27548083-Reference-C;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Reference C tcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GATCGCAAGTCT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgatcgcaagtctAGATCGAGACCCGACGC chr16:27548083-Reference-C;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative A tcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GTTATCGAGTGT CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgttatcgagtgtAGATCGAGACCCGACGC chr16:27548083-Alternative-A;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Reference C tcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct CTAGCCGAAGAA CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAActagccgaagaaAGATCGAGACCCGACGC chr16:27548083-Reference-C;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Reference C tcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct GATGATCGACCG CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggCtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAgatgatcgaccgAGATCGAGACCCGACGC chr16:27548083-Reference-C;Patient-89 chr16:27548083-CG Inherited Patient-89 intronic GTF3C1 3.2e-05 4.95e-05 -0.06 1.83 -1.6 GTF3C1 13167 Alternative A tcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagct ATCGGACGACAC CGACGCGGTCTCTCTCTtcattgctgcctacctccaccccagagagctgctggccaggtactgagggAtcagggcttcctcagctaagggctgctcttcccaggccctgcaccagctAGAGGGAGACGGACGTCTCAATAAatcggacgacacAGATCGAGACCCGACGC chr16:27548083-Alternative-A;Patient-89 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Variant G cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc ATACCGTGCGAT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAataccgtgcgatAGATCGAGACCCGACGC chr16:2759946-Variant-G;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Variant G cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc AATAGAGCGACT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAaatagagcgactAGATCGAGACCCGACGC chr16:2759946-Variant-G;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Reference T cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc AGTTCAAGATGG CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAagttcaagatggAGATCGAGACCCGACGC chr16:2759946-Reference-T;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Variant G cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc GAGTATGACGGC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAgagtatgacggcAGATCGAGACCCGACGC chr16:2759946-Variant-G;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Reference T cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CACGGCATACGT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcacggcatacgtAGATCGAGACCCGACGC chr16:2759946-Reference-T;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Reference T cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc ATCCGAGGCGAA CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAatccgaggcgaaAGATCGAGACCCGACGC chr16:2759946-Reference-T;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Variant G cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CGGTCGAGATGT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcggtcgagatgtAGATCGAGACCCGACGC chr16:2759946-Variant-G;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Variant G cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc AACGGTCGGAGT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccGtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAaacggtcggagtAGATCGAGACCCGACGC chr16:2759946-Variant-G;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative A cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CGACTACGAATC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcgactacgaatcAGATCGAGACCCGACGC chr16:2759946-Alternative-A;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative A cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc GTCTCGACCATT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAgtctcgaccattAGATCGAGACCCGACGC chr16:2759946-Alternative-A;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative A cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc AGAACGCTAAGG CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAagaacgctaaggAGATCGAGACCCGACGC chr16:2759946-Alternative-A;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Reference T cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc ATTCTGGTTCAC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAattctggttcacAGATCGAGACCCGACGC chr16:2759946-Reference-T;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Reference T cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CGGTCACGAATT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccTtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcggtcacgaattAGATCGAGACCCGACGC chr16:2759946-Reference-T;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative A cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc GGACAGACTATC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAggacagactatcAGATCGAGACCCGACGC chr16:2759946-Alternative-A;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative A cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc GGCTCTGAGTGT CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccAtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAggctctgagtgtAGATCGAGACCCGACGC chr16:2759946-Alternative-A;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative C cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc GGTGTCGCACTA CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAggtgtcgcactaAGATCGAGACCCGACGC chr16:2759946-Alternative-C;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative C cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CGTCCGGTATCA CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcgtccggtatcaAGATCGAGACCCGACGC chr16:2759946-Alternative-C;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative C cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CAAGATCAGCGG CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcaagatcagcggAGATCGAGACCCGACGC chr16:2759946-Alternative-C;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative C cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc AGCAGGCCAATC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAagcaggccaatcAGATCGAGACCCGACGC chr16:2759946-Alternative-C;Patient-36 chr16:2759946-TG DeNovo Patient-36 intergenic 3.2e-05 0.001025641 0 2.62 -0.45 ELOB 67350 Alternative C cttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggc CGTGTTGGATGC CGACGCGGTCTCTCTCTcttcccgctgcccgactcccaccaggagcctggctaggccttacagccccCtgaccaggtagagttgtgggcacttgggagaagcctcagcgtggcaggcAGAGGGAGACGGACGTCTCAATAAcgtgttggatgcAGATCGAGACCCGACGC chr16:2759946-Alternative-C;Patient-36 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Variant G ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc GAATAACACGGT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAgaataacacggtAGATCGAGACCCGACGC chr16:28591666-Variant-G;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative T ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ATAGCGGCGAGT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAatagcggcgagtAGATCGAGACCCGACGC chr16:28591666-Alternative-T;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative T ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CAGACGACAACG CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcagacgacaacgAGATCGAGACCCGACGC chr16:28591666-Alternative-T;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative T ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CGATAAGCACCT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcgataagcacctAGATCGAGACCCGACGC chr16:28591666-Alternative-T;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative T ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ATCTCGCATTGT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAatctcgcattgtAGATCGAGACCCGACGC chr16:28591666-Alternative-T;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Variant G ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ATACGCGCAATA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAatacgcgcaataAGATCGAGACCCGACGC chr16:28591666-Variant-G;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative T ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CGCGGAATTGAG CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccTtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcgcggaattgagAGATCGAGACCCGACGC chr16:28591666-Alternative-T;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Reference A ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc GCGTCACAGATT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAgcgtcacagattAGATCGAGACCCGACGC chr16:28591666-Reference-A;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Reference A ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc AACGCGAGTACC CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAaacgcgagtaccAGATCGAGACCCGACGC chr16:28591666-Reference-A;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Reference A ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CACTATCAGACA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcactatcagacaAGATCGAGACCCGACGC chr16:28591666-Reference-A;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Reference A ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CAGGCGTACTGA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcaggcgtactgaAGATCGAGACCCGACGC chr16:28591666-Reference-A;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative C ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc GGCCGAATAAGT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAggccgaataagtAGATCGAGACCCGACGC chr16:28591666-Alternative-C;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Reference A ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CTGCATGCTACC CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccAtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAActgcatgctaccAGATCGAGACCCGACGC chr16:28591666-Reference-A;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative C ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ACCGGATGACCA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAaccggatgaccaAGATCGAGACCCGACGC chr16:28591666-Alternative-C;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative C ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ATCTATGCGTCT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAatctatgcgtctAGATCGAGACCCGACGC chr16:28591666-Alternative-C;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative C ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc CATTCGATAGCA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAcattcgatagcaAGATCGAGACCCGACGC chr16:28591666-Alternative-C;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Variant G ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc AGCTTGTCAACA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAagcttgtcaacaAGATCGAGACCCGACGC chr16:28591666-Variant-G;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Variant G ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc GGCTCTAGCGTT CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAggctctagcgttAGATCGAGACCCGACGC chr16:28591666-Variant-G;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Variant G ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc AGTCGTAGGCCA CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccGtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAagtcgtaggccaAGATCGAGACCCGACGC chr16:28591666-Variant-G;Patient-27 chr16:28591666-AG DeNovo Patient-27 intronic SGF29 NA 0.00016 -0.18 0.81 -1.38 SGF29 26416 Alternative C ataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttc ACAATAATGCCG CGACGCGGTCTCTCTCTataacaagttactgcaagctgggtggcttaagacaagagaaatttattccCtcacagttctaggggccataattccaaaatcaagatgtcagcttggttcAGAGGGAGACGGACGTCTCAATAAacaataatgccgAGATCGAGACCCGACGC chr16:28591666-Alternative-C;Patient-27 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative C atatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatac AGACCTCTCGCT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAagacctctcgctAGATCGAGACCCGACGC chr16:28863783-Alternative-C;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative G atatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatac GTCAGGCCAACA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgtcaggccaacaAGATCGAGACCCGACGC chr16:28863783-Alternative-G;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative C atatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatac CGGTAAGCGGAA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAcggtaagcggaaAGATCGAGACCCGACGC chr16:28863783-Alternative-C;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative C atatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatac GTGTATCATTCG CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgtgtatcattcgAGATCGAGACCCGACGC chr16:28863783-Alternative-C;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Variant T atatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatac ATAGTGCTCGGC CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAatagtgctcggcAGATCGAGACCCGACGC chr16:28863783-Variant-T;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative C atatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatac CATTCTTGGTAC CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAcattcttggtacAGATCGAGACCCGACGC chr16:28863783-Alternative-C;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Reference A atatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatac CTATACCGTCTA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAActataccgtctaAGATCGAGACCCGACGC chr16:28863783-Reference-A;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative C atatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatac GGTACGCGATAC CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttCtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAggtacgcgatacAGATCGAGACCCGACGC chr16:28863783-Alternative-C;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Variant T atatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatac GAGCTCACGGAA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgagctcacggaaAGATCGAGACCCGACGC chr16:28863783-Variant-T;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative G atatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatac AAGGTTAGTGCA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAaaggttagtgcaAGATCGAGACCCGACGC chr16:28863783-Alternative-G;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative G atatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatac GACGATGGACTT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgacgatggacttAGATCGAGACCCGACGC chr16:28863783-Alternative-G;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Reference A atatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatac AGCGTAGCTAAC CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAagcgtagctaacAGATCGAGACCCGACGC chr16:28863783-Reference-A;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Variant T atatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatac GTGTAGGCGCTA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgtgtaggcgctaAGATCGAGACCCGACGC chr16:28863783-Variant-T;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Reference A atatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatac CAGATCATAGCT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAcagatcatagctAGATCGAGACCCGACGC chr16:28863783-Reference-A;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Reference A atatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatac GCGAATACCATA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgcgaataccataAGATCGAGACCCGACGC chr16:28863783-Reference-A;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative G atatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatac AGATGTTCGGAT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAagatgttcggatAGATCGAGACCCGACGC chr16:28863783-Alternative-G;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Variant T atatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatac CGCTCGTTACGT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAcgctcgttacgtAGATCGAGACCCGACGC chr16:28863783-Variant-T;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Reference A atatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatac GTCATCTTCGAT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttAtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgtcatcttcgatAGATCGAGACCCGACGC chr16:28863783-Reference-A;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Variant T atatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatac GTGAGACATAGT CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttTtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgtgagacatagtAGATCGAGACCCGACGC chr16:28863783-Variant-T;Patient-57 chr16:28863783-AT DeNovo Patient-57 intergenic 5.2e-05 0.000513 0.01 2.84 0 TUFM 6053 Alternative G atatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatac GCGAAGTTGATA CGACGCGGTCTCTCTCTatatttatatatttacatatatatttatatatatatttacatatatatttGtatatatacatatatatttatatatacatacatatatttatatatatacAGAGGGAGACGGACGTCTCAATAAgcgaagttgataAGATCGAGACCCGACGC chr16:28863783-Alternative-G;Patient-57 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative C ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CTCGGTCTGGTT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAActcggtctggttAGATCGAGACCCGACGC chr16:28999893-Alternative-C;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative C ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CGAATCAAGTCT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgaatcaagtctAGATCGAGACCCGACGC chr16:28999893-Alternative-C;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative C ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GTAACATCGCTA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtaacatcgctaAGATCGAGACCCGACGC chr16:28999893-Alternative-C;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative C ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag AAGATCCTCGAT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAaagatcctcgatAGATCGAGACCCGACGC chr16:28999893-Alternative-C;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative C ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GTCGTAGTAAGA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcCtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtcgtagtaagaAGATCGAGACCCGACGC chr16:28999893-Alternative-C;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Variant A ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag ATCGCTATTGAG CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAatcgctattgagAGATCGAGACCCGACGC chr16:28999893-Variant-A;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Variant A ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag ATTGAGTTGCGT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAattgagttgcgtAGATCGAGACCCGACGC chr16:28999893-Variant-A;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Variant A ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GTCTAGACGCGA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtctagacgcgaAGATCGAGACCCGACGC chr16:28999893-Variant-A;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Variant A ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GGATCTTACGCG CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAggatcttacgcgAGATCGAGACCCGACGC chr16:28999893-Variant-A;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Variant A ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag AATCGCTTGACA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcAtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAaatcgcttgacaAGATCGAGACCCGACGC chr16:28999893-Variant-A;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative T ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CGAGCATAAGCA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgagcataagcaAGATCGAGACCCGACGC chr16:28999893-Alternative-T;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative T ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CGCGTGGTATCA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgcgtggtatcaAGATCGAGACCCGACGC chr16:28999893-Alternative-T;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative T ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GCGTCGCATGAT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgcgtcgcatgatAGATCGAGACCCGACGC chr16:28999893-Alternative-T;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative T ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CACGAGAAGAGT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcacgagaagagtAGATCGAGACCCGACGC chr16:28999893-Alternative-T;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Alternative T ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag ACGTACCTGGTT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcTtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAacgtacctggttAGATCGAGACCCGACGC chr16:28999893-Alternative-T;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Reference G ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GGATCATCTAAG CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAggatcatctaagAGATCGAGACCCGACGC chr16:28999893-Reference-G;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Reference G ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag CGAATTACCACA CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgaattaccacaAGATCGAGACCCGACGC chr16:28999893-Reference-G;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Reference G ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GTTCAACCGAAC CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgttcaaccgaacAGATCGAGACCCGACGC chr16:28999893-Reference-G;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Reference G ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag ATTCTGCGTAAG CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAattctgcgtaagAGATCGAGACCCGACGC chr16:28999893-Reference-G;Patient-30 chr16:28999893-GA Inherited Patient-30 intronic LAT 0.000798 4.95e-05 NA NA NA LAT 3745 Reference G ccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggag GGTAGTAGCGGT CGACGCGGTCTCTCTCTccaacatggcgaaacccagtctctactaaaaataccaaaattagcagggcGtggtggcgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAggtagtagcggtAGATCGAGACCCGACGC chr16:28999893-Reference-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Variant G agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ATCGACGGAAGG CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAatcgacggaaggAGATCGAGACCCGACGC chr16:29408994-Variant-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Variant G agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg CTGCGTCTTGTC CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAActgcgtcttgtcAGATCGAGACCCGACGC chr16:29408994-Variant-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Variant G agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg GTCGTTAGCGGT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAgtcgttagcggtAGATCGAGACCCGACGC chr16:29408994-Variant-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Variant G agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg AAGACCTAACCA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAaagacctaaccaAGATCGAGACCCGACGC chr16:29408994-Variant-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative C agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg AGCTATGAGCCA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAagctatgagccaAGATCGAGACCCGACGC chr16:29408994-Alternative-C;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative A agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg GCATCTTCGTCG CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAgcatcttcgtcgAGATCGAGACCCGACGC chr16:29408994-Alternative-A;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative C agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg GTCTATCTCCGA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAgtctatctccgaAGATCGAGACCCGACGC chr16:29408994-Alternative-C;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative A agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg CTGCGTTAATGA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAActgcgttaatgaAGATCGAGACCCGACGC chr16:29408994-Alternative-A;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Reference T agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ACCTCAACGAAT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAacctcaacgaatAGATCGAGACCCGACGC chr16:29408994-Reference-T;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative A agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg GTGTCCGTCAAG CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAgtgtccgtcaagAGATCGAGACCCGACGC chr16:29408994-Alternative-A;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative A agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ACAAGCTCGGAT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAacaagctcggatAGATCGAGACCCGACGC chr16:29408994-Alternative-A;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative A agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg CATAAGCGTACA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgAccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAcataagcgtacaAGATCGAGACCCGACGC chr16:29408994-Alternative-A;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Reference T agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg AGGAGGTTAACT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAaggaggttaactAGATCGAGACCCGACGC chr16:29408994-Reference-T;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Reference T agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg CGAATCAGGATA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAcgaatcaggataAGATCGAGACCCGACGC chr16:29408994-Reference-T;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Variant G agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ACCGTCACGTAA CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgGccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAaccgtcacgtaaAGATCGAGACCCGACGC chr16:29408994-Variant-G;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative C agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ACGCGCTGTACT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAacgcgctgtactAGATCGAGACCCGACGC chr16:29408994-Alternative-C;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Reference T agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg AATCGGTTGCGG CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAaatcggttgcggAGATCGAGACCCGACGC chr16:29408994-Reference-T;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative C agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg ACAAGCGAGAGT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAacaagcgagagtAGATCGAGACCCGACGC chr16:29408994-Alternative-C;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Alternative C agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg GTTAACACGTGT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgCccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAAgttaacacgtgtAGATCGAGACCCGACGC chr16:29408994-Alternative-C;Patient-30 chr16:29408994-TG Inherited Patient-30 intergenic NA 0.000892 NA NA NA SLX1B 56827 Reference T agcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacg CTGTCGGATGGT CGACGCGGTCTCTCTCTagcatccaccgcccccgcatgtcctggtcctttcagggcgccctgaggcgTccaggacagaggtggaggtggcttagggcaggggggagggaaggggacgAGAGGGAGACGGACGTCTCAATAActgtcggatggtAGATCGAGACCCGACGC chr16:29408994-Reference-T;Patient-30 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative T cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GCATAATTCCGA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgcataattccgaAGATCGAGACCCGACGC chr16:29863685-Alternative-T;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Variant C cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct AGGTGGTCTAAC CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAaggtggtctaacAGATCGAGACCCGACGC chr16:29863685-Variant-C;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Variant C cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CGTCAGACAACG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAcgtcagacaacgAGATCGAGACCCGACGC chr16:29863685-Variant-C;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Variant C cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GACGCTCCGAAT CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgacgctccgaatAGATCGAGACCCGACGC chr16:29863685-Variant-C;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Reference A cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CGTGTTCACAGG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAcgtgttcacaggAGATCGAGACCCGACGC chr16:29863685-Reference-A;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Reference A cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GTATATCCGGAC CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgtatatccggacAGATCGAGACCCGACGC chr16:29863685-Reference-A;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Variant C cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GTGCTCGGACTA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgtgctcggactaAGATCGAGACCCGACGC chr16:29863685-Variant-C;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Reference A cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CTACCGGCTACA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAActaccggctacaAGATCGAGACCCGACGC chr16:29863685-Reference-A;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Variant C cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct ACGACACGCGAT CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcCtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAacgacacgcgatAGATCGAGACCCGACGC chr16:29863685-Variant-C;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative G cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct AACTCGGTTGCG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAaactcggttgcgAGATCGAGACCCGACGC chr16:29863685-Alternative-G;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Reference A cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GTATATACCTGG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgtatatacctggAGATCGAGACCCGACGC chr16:29863685-Reference-A;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative G cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GCAGTTGCATAT CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgcagttgcatatAGATCGAGACCCGACGC chr16:29863685-Alternative-G;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative T cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct AGGCGGTGTACA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAaggcggtgtacaAGATCGAGACCCGACGC chr16:29863685-Alternative-T;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative T cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CGTCGCTGGTTA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAcgtcgctggttaAGATCGAGACCCGACGC chr16:29863685-Alternative-T;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative G cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct AGATGGTTCGAA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAagatggttcgaaAGATCGAGACCCGACGC chr16:29863685-Alternative-G;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative G cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CTATGGCGACAT CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAActatggcgacatAGATCGAGACCCGACGC chr16:29863685-Alternative-G;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative G cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GAGTCATGTAAG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcGtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgagtcatgtaagAGATCGAGACCCGACGC chr16:29863685-Alternative-G;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Reference A cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct CGGTAGTAACGG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcAtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAcggtagtaacggAGATCGAGACCCGACGC chr16:29863685-Reference-A;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative T cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct GCATCCGGAACA CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAgcatccggaacaAGATCGAGACCCGACGC chr16:29863685-Alternative-T;Patient-34 chr16:29863685-AC Inherited Patient-34 intergenic NA 0.000243 -0.3 0.35 -0.71 KCTD13 73859 Alternative T cctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcct AAGTGACCGCAG CGACGCGGTCTCTCTCTcctcaggtgatctgcccgccttggcctcccaaagtgctggggttacaggcTtgagccacagcgcctggccctagttttttatatcttaaaaattaggcctAGAGGGAGACGGACGTCTCAATAAaagtgaccgcagAGATCGAGACCCGACGC chr16:29863685-Alternative-T;Patient-34 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Variant T cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GCATCTGGTACG CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAgcatctggtacgAGATCGAGACCCGACGC chr16:3002554-Variant-T;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Reference C cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag AATCTGTGTGGT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAaatctgtgtggtAGATCGAGACCCGACGC chr16:3002554-Reference-C;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Variant T cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GCAGGACGACTA CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAgcaggacgactaAGATCGAGACCCGACGC chr16:3002554-Variant-T;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Reference C cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CACAGCATTGTT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAcacagcattgttAGATCGAGACCCGACGC chr16:3002554-Reference-C;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative A cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GACGATAATACG CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAgacgataatacgAGATCGAGACCCGACGC chr16:3002554-Alternative-A;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Reference C cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CTGCGCTATGAG CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAActgcgctatgagAGATCGAGACCCGACGC chr16:3002554-Reference-C;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Variant T cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag ACGCCTCGTTGT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAacgcctcgttgtAGATCGAGACCCGACGC chr16:3002554-Variant-T;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Reference C cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CGTACTAGACAT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAcgtactagacatAGATCGAGACCCGACGC chr16:3002554-Reference-C;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Reference C cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag AGTTGACGCTAT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtCtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAagttgacgctatAGATCGAGACCCGACGC chr16:3002554-Reference-C;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative A cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GTGATCCTTCTA CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAgtgatccttctaAGATCGAGACCCGACGC chr16:3002554-Alternative-A;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative A cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CATGCGCCTAGT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAcatgcgcctagtAGATCGAGACCCGACGC chr16:3002554-Alternative-A;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative A cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag ACTCGTGTCTTA CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAactcgtgtcttaAGATCGAGACCCGACGC chr16:3002554-Alternative-A;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative A cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GAGAGCGTGTGA CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtAtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAgagagcgtgtgaAGATCGAGACCCGACGC chr16:3002554-Alternative-A;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative G cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag GGATAGACAACT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAggatagacaactAGATCGAGACCCGACGC chr16:3002554-Alternative-G;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Variant T cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag AGTCGCACTAAT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAagtcgcactaatAGATCGAGACCCGACGC chr16:3002554-Variant-T;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative G cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag AACCAATGGCGC CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAaaccaatggcgcAGATCGAGACCCGACGC chr16:3002554-Alternative-G;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative G cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CGGATGTCTATA CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAcggatgtctataAGATCGAGACCCGACGC chr16:3002554-Alternative-G;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Variant T cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CTAACTACAACC CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtTtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAActaactacaaccAGATCGAGACCCGACGC chr16:3002554-Variant-T;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative G cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag CGCTATTGATGT CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAcgctattgatgtAGATCGAGACCCGACGC chr16:3002554-Alternative-G;Patient-80 chr16:3002554-CT DeNovo Patient-80 intergenic 0.000828 0.00138 -0.19 0.77 -0.34 KREMEN2 11662 Alternative G cccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctag ACGACACAGGAC CGACGCGGTCTCTCTCTcccaaagtgctgggatgacaggtgtgagccaccatgcccggcccctctgtGtgtctccttccctcgtgtgctaaggagctgatggggcccctttctctagAGAGGGAGACGGACGTCTCAATAAacgacacaggacAGATCGAGACCCGACGC chr16:3002554-Alternative-G;Patient-80 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Reference G gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CGTTATGCCGCT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAcgttatgccgctAGATCGAGACCCGACGC chr16:30358308-Reference-G;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Variant T gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac AATCTGTCCGAA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAaatctgtccgaaAGATCGAGACCCGACGC chr16:30358308-Variant-T;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Reference G gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CACGCTTAGTAA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAcacgcttagtaaAGATCGAGACCCGACGC chr16:30358308-Reference-G;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Reference G gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac AGTCGCGTTCGT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAagtcgcgttcgtAGATCGAGACCCGACGC chr16:30358308-Reference-G;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative C gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac AACGAAGACCGG CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAaacgaagaccggAGATCGAGACCCGACGC chr16:30358308-Alternative-C;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Variant T gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac GACGACTATCAT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAgacgactatcatAGATCGAGACCCGACGC chr16:30358308-Variant-T;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Variant T gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CTAAGGTGCGAA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAActaaggtgcgaaAGATCGAGACCCGACGC chr16:30358308-Variant-T;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative C gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac GGATGGACGATA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAggatggacgataAGATCGAGACCCGACGC chr16:30358308-Alternative-C;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative C gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac ACATGACATGAG CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAacatgacatgagAGATCGAGACCCGACGC chr16:30358308-Alternative-C;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Reference G gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac ACATCGCGTAGT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAacatcgcgtagtAGATCGAGACCCGACGC chr16:30358308-Reference-G;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative A gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CGAGTTGCTGCA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAcgagttgctgcaAGATCGAGACCCGACGC chr16:30358308-Alternative-A;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative A gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac ACGACCGAAGCA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAacgaccgaagcaAGATCGAGACCCGACGC chr16:30358308-Alternative-A;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Reference G gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CACGCCTAAGCA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgGatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAcacgcctaagcaAGATCGAGACCCGACGC chr16:30358308-Reference-G;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative C gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CTATAGCTTGAC CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAActatagcttgacAGATCGAGACCCGACGC chr16:30358308-Alternative-C;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Variant T gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac AGCGCGCTCTAT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAagcgcgctctatAGATCGAGACCCGACGC chr16:30358308-Variant-T;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative C gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CAGTTGGCGCTT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgCatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAcagttggcgcttAGATCGAGACCCGACGC chr16:30358308-Alternative-C;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative A gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac ACTCGCTATGTT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAactcgctatgttAGATCGAGACCCGACGC chr16:30358308-Alternative-A;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative A gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac CTAACGCCAACC CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAActaacgccaaccAGATCGAGACCCGACGC chr16:30358308-Alternative-A;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Variant T gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac GCACGTTGGTAA CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgTatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAgcacgttggtaaAGATCGAGACCCGACGC chr16:30358308-Variant-T;Patient-85 chr16:30358308-GT Inherited Patient-85 intergenic 3.2e-05 0.000513 -0.76 0.01 -0.38 CD2BP2 8373 Alternative A gcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaac GATTCCATGCTT CGACGCGGTCTCTCTCTgcggtggctcacaactgtaatcccagcactttgggaggccaaggcaggtgAatcacttgaggtcaggagctcaagaccaccctggccaacatggcaaaacAGAGGGAGACGGACGTCTCAATAAgattccatgcttAGATCGAGACCCGACGC chr16:30358308-Alternative-A;Patient-85 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative A ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CGCCTACAACTA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAcgcctacaactaAGATCGAGACCCGACGC chr16:30690854-Alternative-A;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative A ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GAGTCAATACGA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgagtcaatacgaAGATCGAGACCCGACGC chr16:30690854-Alternative-A;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Reference C ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta AGATCGGTGTGG CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAagatcggtgtggAGATCGAGACCCGACGC chr16:30690854-Reference-C;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Reference C ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CTCGCGCTGTTA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAActcgcgctgttaAGATCGAGACCCGACGC chr16:30690854-Reference-C;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Reference C ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CTCTGACATCAT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAActctgacatcatAGATCGAGACCCGACGC chr16:30690854-Reference-C;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative A ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GTTCGTCCAATT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgttcgtccaattAGATCGAGACCCGACGC chr16:30690854-Alternative-A;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Reference C ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CATTATTACCGC CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAcattattaccgcAGATCGAGACCCGACGC chr16:30690854-Reference-C;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Variant T ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta ACACCAAGCGAG CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAacaccaagcgagAGATCGAGACCCGACGC chr16:30690854-Variant-T;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative A ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta AACGTCGACTTA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAaacgtcgacttaAGATCGAGACCCGACGC chr16:30690854-Alternative-A;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Reference C ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GAGCATACTCTA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctCagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgagcatactctaAGATCGAGACCCGACGC chr16:30690854-Reference-C;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative G ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CGCGCTATACGT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAcgcgctatacgtAGATCGAGACCCGACGC chr16:30690854-Alternative-G;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative G ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GACCTAACCACA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgacctaaccacaAGATCGAGACCCGACGC chr16:30690854-Alternative-G;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative G ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta ACGGTCTGTTGT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAacggtctgttgtAGATCGAGACCCGACGC chr16:30690854-Alternative-G;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative G ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GATTGTTCGCTT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgattgttcgcttAGATCGAGACCCGACGC chr16:30690854-Alternative-G;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Variant T ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CTCGTGCTTGCA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAActcgtgcttgcaAGATCGAGACCCGACGC chr16:30690854-Variant-T;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative G ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GTTACTACACAC CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctGagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAgttactacacacAGATCGAGACCCGACGC chr16:30690854-Alternative-G;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Variant T ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta GGTTGAACCGTC CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAggttgaaccgtcAGATCGAGACCCGACGC chr16:30690854-Variant-T;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Variant T ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta CTATTCGCATGT CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAActattcgcatgtAGATCGAGACCCGACGC chr16:30690854-Variant-T;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Alternative A ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta AACGGCGTGAGA CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctAagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAaacggcgtgagaAGATCGAGACCCGACGC chr16:30690854-Alternative-A;Patient-40 chr16:30690854-CT DeNovo Patient-40 intergenic NA 0.000513 -0.64 0.03 -0.26 PHKG2 68765 Variant T ctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggcta AGTCTATCAACG CGACGCGGTCTCTCTCTctcggctcactgcaacctacacctcccgggttcacgccattctcctgcctTagcctcccaagtagctgggactacaggtgcctgacaccacacccggctaAGAGGGAGACGGACGTCTCAATAAagtctatcaacgAGATCGAGACCCGACGC chr16:30690854-Variant-T;Patient-40 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative A cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt AATGTACGACGC CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAaatgtacgacgcAGATCGAGACCCGACGC chr16:30819145-Alternative-A;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative A cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CTAGTCGTCGTC CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAActagtcgtcgtcAGATCGAGACCCGACGC chr16:30819145-Alternative-A;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative A cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GCCGTCATAACG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgccgtcataacgAGATCGAGACCCGACGC chr16:30819145-Alternative-A;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative A cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt AACGCAAGTCGG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAaacgcaagtcggAGATCGAGACCCGACGC chr16:30819145-Alternative-A;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Reference C cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt ATCGCAATGCGG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAatcgcaatgcggAGATCGAGACCCGACGC chr16:30819145-Reference-C;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Reference C cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CGTGTGGAGAGT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAcgtgtggagagtAGATCGAGACCCGACGC chr16:30819145-Reference-C;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Reference C cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt AGGCCGGTAGAT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAaggccggtagatAGATCGAGACCCGACGC chr16:30819145-Reference-C;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Reference C cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CACAGCGGTGTT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAcacagcggtgttAGATCGAGACCCGACGC chr16:30819145-Reference-C;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Reference C cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GCAGCTGTGCAT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccCggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgcagctgtgcatAGATCGAGACCCGACGC chr16:30819145-Reference-C;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative A cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CGCCATTCCAAG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccAggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAcgccattccaagAGATCGAGACCCGACGC chr16:30819145-Alternative-A;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Variant T cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CAACAGCTAGAA CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAcaacagctagaaAGATCGAGACCCGACGC chr16:30819145-Variant-T;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Variant T cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt AAGCGTGGTTCG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAaagcgtggttcgAGATCGAGACCCGACGC chr16:30819145-Variant-T;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Variant T cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt ATTCTGGCATGA CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAattctggcatgaAGATCGAGACCCGACGC chr16:30819145-Variant-T;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Variant T cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GATGATGTTGTC CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgatgatgttgtcAGATCGAGACCCGACGC chr16:30819145-Variant-T;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Variant T cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt CGTCCGCGAATA CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccTggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAcgtccgcgaataAGATCGAGACCCGACGC chr16:30819145-Variant-T;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative G cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GTTACGCACTAA CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgttacgcactaaAGATCGAGACCCGACGC chr16:30819145-Alternative-G;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative G cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt AGGTTCGGTTAT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAaggttcggttatAGATCGAGACCCGACGC chr16:30819145-Alternative-G;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative G cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GAGAGCAGTTCG CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgagagcagttcgAGATCGAGACCCGACGC chr16:30819145-Alternative-G;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative G cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GTTGTTCACACT CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAgttgttcacactAGATCGAGACCCGACGC chr16:30819145-Alternative-G;Patient-25 chr16:30819145-CT Inherited Patient-25 intergenic NA 0.000513 -0.02 2.33 0 PHKG2 59524 Alternative G cccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaatt GGCGTCTAATTA CGACGCGGTCTCTCTCTcccacctcggcctcccaaagtgctgggattacaggcatgagccccacgccGggcctggtttttgtttttttttgtttgttttgttttgttttttttaattAGAGGGAGACGGACGTCTCAATAAggcgtctaattaAGATCGAGACCCGACGC chr16:30819145-Alternative-G;Patient-25 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Reference G aaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccatt GCAGAATGGTCG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgcagaatggtcgAGATCGAGACCCGACGC chr16:31065071-Reference-G;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Reference G aaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccatt CGGTGGAGTCAT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAcggtggagtcatAGATCGAGACCCGACGC chr16:31065071-Reference-G;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative T aaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccatt ACCAACACGCTT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaccaacacgcttAGATCGAGACCCGACGC chr16:31065071-Alternative-T;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Reference G aaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccatt ACCGCAATGTCG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaccgcaatgtcgAGATCGAGACCCGACGC chr16:31065071-Reference-G;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Reference G aaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccatt CGTATCATTGAG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAcgtatcattgagAGATCGAGACCCGACGC chr16:31065071-Reference-G;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative T aaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccatt CGGATGCATCGA CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAcggatgcatcgaAGATCGAGACCCGACGC chr16:31065071-Alternative-T;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Variant A aaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccatt GTGTTGCTTCAT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgtgttgcttcatAGATCGAGACCCGACGC chr16:31065071-Variant-A;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative T aaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccatt AGCAACGCGGTT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAagcaacgcggttAGATCGAGACCCGACGC chr16:31065071-Alternative-T;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative C aaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccatt GACCTTAGTAGT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgaccttagtagtAGATCGAGACCCGACGC chr16:31065071-Alternative-C;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Variant A aaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccatt GTACTACCAACA CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgtactaccaacaAGATCGAGACCCGACGC chr16:31065071-Variant-A;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative T aaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccatt AAGCGCTAACGC CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaagcgctaacgcAGATCGAGACCCGACGC chr16:31065071-Alternative-T;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Variant A aaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccatt AGGCTATACCAT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaggctataccatAGATCGAGACCCGACGC chr16:31065071-Variant-A;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative C aaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccatt AACAACCGGCGA CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaacaaccggcgaAGATCGAGACCCGACGC chr16:31065071-Alternative-C;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative C aaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccatt CATGCGTGCGTT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAcatgcgtgcgttAGATCGAGACCCGACGC chr16:31065071-Alternative-C;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative C aaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccatt GTACGCGTTCGT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgtacgcgttcgtAGATCGAGACCCGACGC chr16:31065071-Alternative-C;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Variant A aaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccatt CATATAATCCGG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAcatataatccggAGATCGAGACCCGACGC chr16:31065071-Variant-A;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Reference G aaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccatt ATTCGTGTAACG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacGtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAattcgtgtaacgAGATCGAGACCCGACGC chr16:31065071-Reference-G;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Variant A aaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccatt ACGCGCTCTAAG CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacAtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAacgcgctctaagAGATCGAGACCCGACGC chr16:31065071-Variant-A;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative T aaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccatt GTCAAGATTGGT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacTtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAgtcaagattggtAGATCGAGACCCGACGC chr16:31065071-Alternative-T;Patient-84 chr16:31065071-GA Inherited Patient-84 intergenic 3.2e-05 0.000513 -0.19 0.75 0 HSD3B7 68551 Alternative C aaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccatt AAGCAGTGTAGT CGACGCGGTCTCTCTCTaaatccctttcaccatataacgtgacattcacagattccaggaataggacCtagacatatttaggggggttctctattcagcctactgtaccatgccattAGAGGGAGACGGACGTCTCAATAAaagcagtgtagtAGATCGAGACCCGACGC chr16:31065071-Alternative-C;Patient-84 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative G tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta AGCTCAAGGAGA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAagctcaaggagaAGATCGAGACCCGACGC chr16:31101481-Alternative-G;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative G tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CTTGATCGGCTA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAActtgatcggctaAGATCGAGACCCGACGC chr16:31101481-Alternative-G;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative G tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CAGGAGTACTAA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAcaggagtactaaAGATCGAGACCCGACGC chr16:31101481-Alternative-G;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative G tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CTGGCGTATAGA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAActggcgtatagaAGATCGAGACCCGACGC chr16:31101481-Alternative-G;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Reference C tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta AGTCGACGAGGT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAagtcgacgaggtAGATCGAGACCCGACGC chr16:31101481-Reference-C;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Reference C tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CTAATTCGGCTT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAActaattcggcttAGATCGAGACCCGACGC chr16:31101481-Reference-C;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Reference C tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CGTTAGCGATAC CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAcgttagcgatacAGATCGAGACCCGACGC chr16:31101481-Reference-C;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Variant T tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GGACCTAAGTAT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAggacctaagtatAGATCGAGACCCGACGC chr16:31101481-Variant-T;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Variant T tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GATCCTAGTTCT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAgatcctagttctAGATCGAGACCCGACGC chr16:31101481-Variant-T;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Variant T tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta AGTCGACATCAT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAagtcgacatcatAGATCGAGACCCGACGC chr16:31101481-Variant-T;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Variant T tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GGACCGCGTATA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAggaccgcgtataAGATCGAGACCCGACGC chr16:31101481-Variant-T;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative A tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CGCGCGAACATA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAcgcgcgaacataAGATCGAGACCCGACGC chr16:31101481-Alternative-A;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative A tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GTACCTGATAGT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAgtacctgatagtAGATCGAGACCCGACGC chr16:31101481-Alternative-A;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Variant T tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CTTAAGTTCGTC CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacTttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAActtaagttcgtcAGATCGAGACCCGACGC chr16:31101481-Variant-T;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Reference C tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GCGAAGACGTCT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAgcgaagacgtctAGATCGAGACCCGACGC chr16:31101481-Reference-C;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative G tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GCGGCTGATCTA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacGttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAgcggctgatctaAGATCGAGACCCGACGC chr16:31101481-Alternative-G;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative A tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GGAGATTGCAGT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAggagattgcagtAGATCGAGACCCGACGC chr16:31101481-Alternative-A;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative A tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta GTACGCACTCTT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAgtacgcactcttAGATCGAGACCCGACGC chr16:31101481-Alternative-A;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Alternative A tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta ATCTTGGCGAGA CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacAttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAatcttggcgagaAGATCGAGACCCGACGC chr16:31101481-Alternative-A;Patient-61 chr16:31101481-CT Inherited Patient-61 intergenic 0.000192 0.000513 0.2 5.87 0.51 VKORC1 4794 Reference C tctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggacta CACGAGCGCAAT CGACGCGGTCTCTCTCTtctgttgctcaggctggagtgcagtgatcatggctcactgcagcctcaacCttctgggctcaagcagtcttcccgccagcttcccgattagttgggactaAGAGGGAGACGGACGTCTCAATAAcacgagcgcaatAGATCGAGACCCGACGC chr16:31101481-Reference-C;Patient-61 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative C ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GGATGATCGACG CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAggatgatcgacgAGATCGAGACCCGACGC chr16:31148020-Alternative-C;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Reference A ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca AAGCGTGATGAA CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAaagcgtgatgaaAGATCGAGACCCGACGC chr16:31148020-Reference-A;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative C ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GCGAGATATCCA CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgcgagatatccaAGATCGAGACCCGACGC chr16:31148020-Alternative-C;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative C ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca CAGCTAATAGTC CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAcagctaatagtcAGATCGAGACCCGACGC chr16:31148020-Alternative-C;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative C ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca ATCGACGTCTGG CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAatcgacgtctggAGATCGAGACCCGACGC chr16:31148020-Alternative-C;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Reference A ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca CGGAACCTAACC CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAcggaacctaaccAGATCGAGACCCGACGC chr16:31148020-Reference-A;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative C ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca AGGAGGATTCAT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcCacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAaggaggattcatAGATCGAGACCCGACGC chr16:31148020-Alternative-C;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Variant G ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GGTTATCGAGCA CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAggttatcgagcaAGATCGAGACCCGACGC chr16:31148020-Variant-G;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative T ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca ATAAGCCAAGTC CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAataagccaagtcAGATCGAGACCCGACGC chr16:31148020-Alternative-T;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Reference A ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca CGTACACGTACG CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAcgtacacgtacgAGATCGAGACCCGACGC chr16:31148020-Reference-A;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative T ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GGATACGTAAGT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAggatacgtaagtAGATCGAGACCCGACGC chr16:31148020-Alternative-T;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative T ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca AGCATGACGCGT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAagcatgacgcgtAGATCGAGACCCGACGC chr16:31148020-Alternative-T;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Reference A ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GCGCCTGGAATT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgcgcctggaattAGATCGAGACCCGACGC chr16:31148020-Reference-A;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative T ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca AGTAACTCGGTT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAagtaactcggttAGATCGAGACCCGACGC chr16:31148020-Alternative-T;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Variant G ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GCACGACTATCA CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgcacgactatcaAGATCGAGACCCGACGC chr16:31148020-Variant-G;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Variant G ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GCGAGAGTCTGT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgcgagagtctgtAGATCGAGACCCGACGC chr16:31148020-Variant-G;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Variant G ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca CTGTTATCAGCT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAActgttatcagctAGATCGAGACCCGACGC chr16:31148020-Variant-G;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Alternative T ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GACGTTGGTCGT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcTacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgacgttggtcgtAGATCGAGACCCGACGC chr16:31148020-Alternative-T;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Reference A ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca GTAAGCAGTTCT CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcAacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAgtaagcagttctAGATCGAGACCCGACGC chr16:31148020-Reference-A;Patient-93 chr16:31148020-AG DeNovo Patient-93 intergenic NA 0.000513 -0.21 0.68 -1.12 PRSS8 868 Variant G ccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaaca ACAGGTGGATTA CGACGCGGTCTCTCTCTccagctatttgggaggctgaggcaggaggattgcttgagcccaggagttcGacgaagcattgagctatgatcacgccactgcactccagcctgggcaacaAGAGGGAGACGGACGTCTCAATAAacaggtggattaAGATCGAGACCCGACGC chr16:31148020-Variant-G;Patient-93 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Reference A gatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GATCACCTTCGT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgatcaccttcgtAGATCGAGACCCGACGC chr16:31309134-Reference-A;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative C gatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GACAACATGAGT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgacaacatgagtAGATCGAGACCCGACGC chr16:31309134-Alternative-C;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Reference A gatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg AACGCGAGCCAT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAaacgcgagccatAGATCGAGACCCGACGC chr16:31309134-Reference-A;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Reference A gatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GCAGCATGATCG CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgcagcatgatcgAGATCGAGACCCGACGC chr16:31309134-Reference-A;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Variant T gatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GCAGCTTATTCT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgcagcttattctAGATCGAGACCCGACGC chr16:31309134-Variant-T;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Reference A gatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GATATGCCTGAT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgatatgcctgatAGATCGAGACCCGACGC chr16:31309134-Reference-A;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative C gatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg AACCACATCACT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAaaccacatcactAGATCGAGACCCGACGC chr16:31309134-Alternative-C;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Variant T gatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GACATCGTGTCG CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgacatcgtgtcgAGATCGAGACCCGACGC chr16:31309134-Variant-T;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative G gatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GTAATCTCAACG CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgtaatctcaacgAGATCGAGACCCGACGC chr16:31309134-Alternative-G;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Variant T gatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GAATGCGTGGAC CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgaatgcgtggacAGATCGAGACCCGACGC chr16:31309134-Variant-T;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Variant T gatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg AGGTAAGAGTCT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAaggtaagagtctAGATCGAGACCCGACGC chr16:31309134-Variant-T;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative G gatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg AGCCGGTAGGAT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAagccggtaggatAGATCGAGACCCGACGC chr16:31309134-Alternative-G;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative C gatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg CAGTATCAACCG CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAcagtatcaaccgAGATCGAGACCCGACGC chr16:31309134-Alternative-C;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative C gatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg ATAGCGGCGTAC CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAatagcggcgtacAGATCGAGACCCGACGC chr16:31309134-Alternative-C;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative C gatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg ACAATAGCGCAA CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcCgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAacaatagcgcaaAGATCGAGACCCGACGC chr16:31309134-Alternative-C;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Reference A gatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg CGCCACTTACTA CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcAgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAcgccacttactaAGATCGAGACCCGACGC chr16:31309134-Reference-A;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Variant T gatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GATGGAGTTGAT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcTgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgatggagttgatAGATCGAGACCCGACGC chr16:31309134-Variant-T;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative G gatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg ACACGGTCGACT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAacacggtcgactAGATCGAGACCCGACGC chr16:31309134-Alternative-G;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative G gatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GACGGAGATCGT CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgacggagatcgtAGATCGAGACCCGACGC chr16:31309134-Alternative-G;Patient-92 chr16:31309134-AT Inherited Patient-92 synonymous ITGAM 0.000697 0.000789 0.81 11.95 0.16 ITGAM 37845 Alternative G gatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtgg GAGCAAGCGAAC CGACGCGGTCTCTCTCTgatgctgttctctacggggagcagggccaaccctggggccgctttggggcGgccctaacagtgctgggggacgtaaatggggacaagctgacggacgtggAGAGGGAGACGGACGTCTCAATAAgagcaagcgaacAGATCGAGACCCGACGC chr16:31309134-Alternative-G;Patient-92 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Reference G gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GGCCATCAGACA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAggccatcagacaAGATCGAGACCCGACGC chr16:31340165-Reference-G;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative C gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat AACTATAGCCGT CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAaactatagccgtAGATCGAGACCCGACGC chr16:31340165-Alternative-C;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative A gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GCATTGTGGCGT CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgcattgtggcgtAGATCGAGACCCGACGC chr16:31340165-Alternative-A;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Reference G gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GATGGTGTCGCT CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgatggtgtcgctAGATCGAGACCCGACGC chr16:31340165-Reference-G;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Reference G gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GTATATGCCGCA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgtatatgccgcaAGATCGAGACCCGACGC chr16:31340165-Reference-G;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative C gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat CAGTTACTCGAA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAcagttactcgaaAGATCGAGACCCGACGC chr16:31340165-Alternative-C;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Reference G gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat AGTGTCGGAATA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAagtgtcggaataAGATCGAGACCCGACGC chr16:31340165-Reference-G;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative A gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat CATAAGAGCACA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAcataagagcacaAGATCGAGACCCGACGC chr16:31340165-Alternative-A;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative A gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GAATATAGTGCG CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgaatatagtgcgAGATCGAGACCCGACGC chr16:31340165-Alternative-A;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Reference G gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat AATAACACGCGA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttGtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAaataacacgcgaAGATCGAGACCCGACGC chr16:31340165-Reference-G;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative C gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GTCGCACATCGA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgtcgcacatcgaAGATCGAGACCCGACGC chr16:31340165-Alternative-C;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Variant T gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GGTATCACCATA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAggtatcaccataAGATCGAGACCCGACGC chr16:31340165-Variant-T;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative C gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GTAGATGGCACG CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgtagatggcacgAGATCGAGACCCGACGC chr16:31340165-Alternative-C;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative A gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat CTGTGTTCGTGC CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAActgtgttcgtgcAGATCGAGACCCGACGC chr16:31340165-Alternative-A;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative A gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat ACGAACGTGAAC CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttAtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAacgaacgtgaacAGATCGAGACCCGACGC chr16:31340165-Alternative-A;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Alternative C gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat CGGATCTTCACG CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttCtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAcggatcttcacgAGATCGAGACCCGACGC chr16:31340165-Alternative-C;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Variant T gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat AACGTCGTCATA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAaacgtcgtcataAGATCGAGACCCGACGC chr16:31340165-Variant-T;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Variant T gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat CACGTGGTTGGT CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAcacgtggttggtAGATCGAGACCCGACGC chr16:31340165-Variant-T;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Variant T gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat AGTAGCGTTCAA CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAagtagcgttcaaAGATCGAGACCCGACGC chr16:31340165-Variant-T;Patient-57 chr16:31340165-GT DeNovo Patient-57 intronic ITGAM 9.6e-05 4.95e-05 -0.02 2.3 0.13 ITGAX 26343 Variant T gtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtat GTTATTGGAAGG CGACGCGGTCTCTCTCTgtgtgtgtgtgaaggtctatgtgcatgtgtgtgcgcatgggtgtgtatttTtgcatgtgtgtgagggtctatgtgcatgtatgtgtgcatgagtgtgtatAGAGGGAGACGGACGTCTCAATAAgttattggaaggAGATCGAGACCCGACGC chr16:31340165-Variant-T;Patient-57 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Variant C ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat CGACAACGGAGT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAcgacaacggagtAGATCGAGACCCGACGC chr16:3825542-Variant-C;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative G ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat AGATCAGGTACT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAagatcaggtactAGATCGAGACCCGACGC chr16:3825542-Alternative-G;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative G ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat CTTACTGTGCGC CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAActtactgtgcgcAGATCGAGACCCGACGC chr16:3825542-Alternative-G;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Reference A ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaat GGTACGGTCGTT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAggtacggtcgttAGATCGAGACCCGACGC chr16:3825542-Reference-A;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Variant C ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat AGCAGGTTAGCG CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAagcaggttagcgAGATCGAGACCCGACGC chr16:3825542-Variant-C;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Variant C ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat ACGACTTCGATA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAacgacttcgataAGATCGAGACCCGACGC chr16:3825542-Variant-C;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Variant C ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat CTAGACGCCAAG CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAActagacgccaagAGATCGAGACCCGACGC chr16:3825542-Variant-C;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Reference A ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaat GGCGTACTATAT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAggcgtactatatAGATCGAGACCCGACGC chr16:3825542-Reference-A;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Reference A ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaat AACCGGCTAATT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAaaccggctaattAGATCGAGACCCGACGC chr16:3825542-Reference-A;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative G ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat ACTCTAGCGTAA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAactctagcgtaaAGATCGAGACCCGACGC chr16:3825542-Alternative-G;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Variant C ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat AGCCACGAATAA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgCctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAagccacgaataaAGATCGAGACCCGACGC chr16:3825542-Variant-C;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Reference A ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaat ACGCATTCTGTT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAacgcattctgttAGATCGAGACCCGACGC chr16:3825542-Reference-A;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Reference A ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaat ACACCGTAAGTT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgActcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAacaccgtaagttAGATCGAGACCCGACGC chr16:3825542-Reference-A;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative G ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat AGTAGATAGCGT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAagtagatagcgtAGATCGAGACCCGACGC chr16:3825542-Alternative-G;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative T ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat CATCTATCGTCT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAcatctatcgtctAGATCGAGACCCGACGC chr16:3825542-Alternative-T;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative G ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat GGCTCTTATGAA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgGctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAggctcttatgaaAGATCGAGACCCGACGC chr16:3825542-Alternative-G;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative T ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat ACCGGCCAATGA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAaccggccaatgaAGATCGAGACCCGACGC chr16:3825542-Alternative-T;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative T ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat GCATATGGCTAA CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAgcatatggctaaAGATCGAGACCCGACGC chr16:3825542-Alternative-T;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative T ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat CAAGATGGAGCT CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAcaagatggagctAGATCGAGACCCGACGC chr16:3825542-Alternative-T;Patient-16 chr16:3825542-AC DeNovo Patient-16 intronic CREBBP NA 4.95e-05 -0.26 0.49 -3.68 TRAP1 57943 Alternative T ggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaat GGCTTGGAACAG CGACGCGGTCTCTCTCTggaaggtgctgccttagcgctgctgtagtcatgagaaggctcaaaggatgTctcacggagcactaccttcaatggctacctagaaatggtaccctcaaatAGAGGGAGACGGACGTCTCAATAAggcttggaacagAGATCGAGACCCGACGC chr16:3825542-Alternative-T;Patient-16 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Variant C atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GTTAAGGTCGAA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgttaaggtcgaaAGATCGAGACCCGACGC chr16:382857-Variant-C;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Variant C atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GTAGATCGATAC CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgtagatcgatacAGATCGAGACCCGACGC chr16:382857-Variant-C;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Variant C atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GTCTCTTCGTCC CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgtctcttcgtccAGATCGAGACCCGACGC chr16:382857-Variant-C;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Variant C atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CGTACGGTCATA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAcgtacggtcataAGATCGAGACCCGACGC chr16:382857-Variant-C;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Variant C atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagat AGGACACAGACA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgCtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAaggacacagacaAGATCGAGACCCGACGC chr16:382857-Variant-C;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative A atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CGATTAGTCAGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAcgattagtcagaAGATCGAGACCCGACGC chr16:382857-Alternative-A;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative A atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CAAGCGGATCTT CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAcaagcggatcttAGATCGAGACCCGACGC chr16:382857-Alternative-A;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative A atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagat AGCCGCTTAACG CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAagccgcttaacgAGATCGAGACCCGACGC chr16:382857-Alternative-A;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative A atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CTTAGTCGGCGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAActtagtcggcgaAGATCGAGACCCGACGC chr16:382857-Alternative-A;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative A atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CTACGAACCAGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgAtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAActacgaaccagaAGATCGAGACCCGACGC chr16:382857-Alternative-A;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative T atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GTTATGTAGTCG CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgttatgtagtcgAGATCGAGACCCGACGC chr16:382857-Alternative-T;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative T atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagat AGCAATCTGCCG CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAagcaatctgccgAGATCGAGACCCGACGC chr16:382857-Alternative-T;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative T atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GAAGATGGTAGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgaagatggtagaAGATCGAGACCCGACGC chr16:382857-Alternative-T;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative T atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GATCGAGGCCTA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgatcgaggcctaAGATCGAGACCCGACGC chr16:382857-Alternative-T;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Alternative T atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagat ACATCATCGTGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgTtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAacatcatcgtgaAGATCGAGACCCGACGC chr16:382857-Alternative-T;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Reference G atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CATGTGAGTAGA CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAcatgtgagtagaAGATCGAGACCCGACGC chr16:382857-Reference-G;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Reference G atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagat CGTCCGTGTTGT CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAcgtccgtgttgtAGATCGAGACCCGACGC chr16:382857-Reference-G;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Reference G atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagat ATCCGGTGTGGT CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAatccggtgtggtAGATCGAGACCCGACGC chr16:382857-Reference-G;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Reference G atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagat AGTCCGTGTACG CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAagtccgtgtacgAGATCGAGACCCGACGC chr16:382857-Reference-G;Patient-30 chr16:382857-GC Inherited Patient-30 intronic AXIN1 NA 4.95e-05 NA NA NA AXIN1 19818 Reference G atggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagat GCGGTGTAACCT CGACGCGGTCTCTCTCTatggtccaaaatctaaataagatctcaaataagttctaaaatgagaaatgGtaaagatggagagaaggaattatcaaagaaataacatttctggccagatAGAGGGAGACGGACGTCTCAATAAgcggtgtaacctAGATCGAGACCCGACGC chr16:382857-Reference-G;Patient-30 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative A caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CTATGGTCGTCC CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAActatggtcgtccAGATCGAGACCCGACGC chr16:3920711-Alternative-A;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Variant T caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GTAACGATTCCA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAgtaacgattccaAGATCGAGACCCGACGC chr16:3920711-Variant-T;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative A caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GTCCGAAGATAA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAgtccgaagataaAGATCGAGACCCGACGC chr16:3920711-Alternative-A;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Variant T caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat AAGTCGTGACCG CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAaagtcgtgaccgAGATCGAGACCCGACGC chr16:3920711-Variant-T;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Reference C caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GGTCTGGTCAGT CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAggtctggtcagtAGATCGAGACCCGACGC chr16:3920711-Reference-C;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative A caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGCGTTCATCGA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcgcgttcatcgaAGATCGAGACCCGACGC chr16:3920711-Alternative-A;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative A caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CTAGTGGATGAA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAActagtggatgaaAGATCGAGACCCGACGC chr16:3920711-Alternative-A;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative A caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GGACTTATGACC CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcAgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAggacttatgaccAGATCGAGACCCGACGC chr16:3920711-Alternative-A;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative G caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CTGCGCTGACTT CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAActgcgctgacttAGATCGAGACCCGACGC chr16:3920711-Alternative-G;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Reference C caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGTCGCTATCGT CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcgtcgctatcgtAGATCGAGACCCGACGC chr16:3920711-Reference-C;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Variant T caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGGAGCAGTAGA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcggagcagtagaAGATCGAGACCCGACGC chr16:3920711-Variant-T;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Variant T caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GATCCTATGACG CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAgatcctatgacgAGATCGAGACCCGACGC chr16:3920711-Variant-T;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Reference C caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CTCACGGCTTGT CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAActcacggcttgtAGATCGAGACCCGACGC chr16:3920711-Reference-C;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Variant T caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGCAGCTATAAG CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcTgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcgcagctataagAGATCGAGACCCGACGC chr16:3920711-Variant-T;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative G caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat AATACGTCGTCA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAaatacgtcgtcaAGATCGAGACCCGACGC chr16:3920711-Alternative-G;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative G caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat GTCGATACCAAC CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAgtcgataccaacAGATCGAGACCCGACGC chr16:3920711-Alternative-G;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative G caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat AGCTGACGATGT CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAagctgacgatgtAGATCGAGACCCGACGC chr16:3920711-Alternative-G;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Alternative G caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CTGGTCACCATA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcGgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAActggtcaccataAGATCGAGACCCGACGC chr16:3920711-Alternative-G;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Reference C caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGCCAGTTGCTA CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcgccagttgctaAGATCGAGACCCGACGC chr16:3920711-Reference-C;Patient-34 chr16:3920711-CT Inherited Patient-34 intronic CREBBP 0.000127 4.95e-05 0.43 8.74 2.43 CREBBP 9409 Reference C caggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgat CGACGTAGATCG CGACGCGGTCTCTCTCTcaggcaggggcagaagcttcccatgtattcagtgagaagcctcctgattcCgggtcaggctacatcatcttagtcctcactggcccaagaagtaggtgatAGAGGGAGACGGACGTCTCAATAAcgacgtagatcgAGATCGAGACCCGACGC chr16:3920711-Reference-C;Patient-34 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Variant T cgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GACCTTGAAGTT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgaccttgaagttAGATCGAGACCCGACGC chr16:4307146-Variant-T;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative G cgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CTATCGCCACGT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAActatcgccacgtAGATCGAGACCCGACGC chr16:4307146-Alternative-G;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative G cgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca AACTACGAACCT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAaactacgaacctAGATCGAGACCCGACGC chr16:4307146-Alternative-G;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative G cgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GAGTCATGTTCA CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgagtcatgttcaAGATCGAGACCCGACGC chr16:4307146-Alternative-G;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Reference C cgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CGAACGACTCAT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcgaacgactcatAGATCGAGACCCGACGC chr16:4307146-Reference-C;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative A cgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca AGGTACTTAACC CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAaggtacttaaccAGATCGAGACCCGACGC chr16:4307146-Alternative-A;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative G cgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca AGAACGGACCGT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAagaacggaccgtAGATCGAGACCCGACGC chr16:4307146-Alternative-G;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Variant T cgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GAATGCCTCGGT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgaatgcctcggtAGATCGAGACCCGACGC chr16:4307146-Variant-T;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Reference C cgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CGTCCTATTCGG CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcgtcctattcggAGATCGAGACCCGACGC chr16:4307146-Reference-C;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative G cgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GTAATAAGGTCG CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcGctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgtaataaggtcgAGATCGAGACCCGACGC chr16:4307146-Alternative-G;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Variant T cgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca AGTACTCGGCGT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAagtactcggcgtAGATCGAGACCCGACGC chr16:4307146-Variant-T;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative A cgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca AGTAACGTAACG CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAagtaacgtaacgAGATCGAGACCCGACGC chr16:4307146-Alternative-A;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Variant T cgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GACCTATAAGTC CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgacctataagtcAGATCGAGACCCGACGC chr16:4307146-Variant-T;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Reference C cgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca ACACGCTAGAAG CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAacacgctagaagAGATCGAGACCCGACGC chr16:4307146-Reference-C;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative A cgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CGATATTCGGCG CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcgatattcggcgAGATCGAGACCCGACGC chr16:4307146-Alternative-A;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative A cgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CATCGAGTCCAT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcatcgagtccatAGATCGAGACCCGACGC chr16:4307146-Alternative-A;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Reference C cgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CGAAGCCACGTT CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcgaagccacgttAGATCGAGACCCGACGC chr16:4307146-Reference-C;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Variant T cgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca ACCGTGATCTAA CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcTctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAaccgtgatctaaAGATCGAGACCCGACGC chr16:4307146-Variant-T;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Reference C cgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca GTAGCGACTTAA CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcCctggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAgtagcgacttaaAGATCGAGACCCGACGC chr16:4307146-Reference-C;Patient-80 chr16:4307146-CT DeNovo Patient-80 intergenic NA 3.84e-05 0.18 5.5 2.12 TFAP4 15854 Alternative A cgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaaca CGAATTCGTCAA CGACGCGGTCTCTCTCTcgctttggggggcccaaggagcccccctactctagatggggtagccctgcActggtcttcaggccagcccacacccaggagactcagaatctaaaaaacaAGAGGGAGACGGACGTCTCAATAAcgaattcgtcaaAGATCGAGACCCGACGC chr16:4307146-Alternative-A;Patient-80 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Variant A ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CGGACCGAGTTA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAcggaccgagttaAGATCGAGACCCGACGC chr16:4678030-Variant-A;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Variant A ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct AGCGCGGTTAGT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAagcgcggttagtAGATCGAGACCCGACGC chr16:4678030-Variant-A;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Variant A ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GGTTGTTCGGCA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAggttgttcggcaAGATCGAGACCCGACGC chr16:4678030-Variant-A;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Variant A ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CGGACGTTGCTT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAcggacgttgcttAGATCGAGACCCGACGC chr16:4678030-Variant-A;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative C ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GTTGGCCGTCTA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgttggccgtctaAGATCGAGACCCGACGC chr16:4678030-Alternative-C;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative C ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct ATATGACGCAGA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAatatgacgcagaAGATCGAGACCCGACGC chr16:4678030-Alternative-C;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative C ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CGTTAACGGCGT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAcgttaacggcgtAGATCGAGACCCGACGC chr16:4678030-Alternative-C;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Reference G ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct ACCGCCGTAAGA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAaccgccgtaagaAGATCGAGACCCGACGC chr16:4678030-Reference-G;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative C ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CAACCGTGAACC CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAcaaccgtgaaccAGATCGAGACCCGACGC chr16:4678030-Alternative-C;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative C ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GCGAGCGTTAAC CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccCagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgcgagcgttaacAGATCGAGACCCGACGC chr16:4678030-Alternative-C;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Reference G ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GGATATTCAACC CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAggatattcaaccAGATCGAGACCCGACGC chr16:4678030-Reference-G;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative T ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CTTGATTAGTGG CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAActtgattagtggAGATCGAGACCCGACGC chr16:4678030-Alternative-T;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Variant A ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GTAGATTAAGCG CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccAagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgtagattaagcgAGATCGAGACCCGACGC chr16:4678030-Variant-A;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative T ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct AAGACGGCTGGT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAaagacggctggtAGATCGAGACCCGACGC chr16:4678030-Alternative-T;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative T ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GTAGAGCTAACT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgtagagctaactAGATCGAGACCCGACGC chr16:4678030-Alternative-T;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Reference G ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct ATCGCGACACAC CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAatcgcgacacacAGATCGAGACCCGACGC chr16:4678030-Reference-G;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative T ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GAGTACACAGCG CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgagtacacagcgAGATCGAGACCCGACGC chr16:4678030-Alternative-T;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Reference G ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct AGCCGGTGGATA CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAagccggtggataAGATCGAGACCCGACGC chr16:4678030-Reference-G;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Alternative T ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct GATTCGGTAACT CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccTagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAgattcggtaactAGATCGAGACCCGACGC chr16:4678030-Alternative-T;Patient-91 chr16:4678030-GA Inherited Patient-91 intronic MGRN1 6.6e-05 4.95e-05 -0.56 0.06 0 MGRN1 3204 Reference G ctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtct CATCGACGACAC CGACGCGGTCTCTCTCTctgaggcaggagaatggtgtgaacccaggaggcggaggttgcagtgagccGagactgcgccactgcactccagcctaggtgtcagagtgagactccgtctAGAGGGAGACGGACGTCTCAATAAcatcgacgacacAGATCGAGACCCGACGC chr16:4678030-Reference-G;Patient-91 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative C atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GTAGTGCTCCGA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAgtagtgctccgaAGATCGAGACCCGACGC chr16:46968914-Alternative-C;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative C atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta ACAACTGCGTAT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAacaactgcgtatAGATCGAGACCCGACGC chr16:46968914-Alternative-C;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative C atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta ACTCCAGTTGCG CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAactccagttgcgAGATCGAGACCCGACGC chr16:46968914-Alternative-C;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative C atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CGCTGAATCACG CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcgctgaatcacgAGATCGAGACCCGACGC chr16:46968914-Alternative-C;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative C atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CGAGATAGGCGT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgCtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcgagataggcgtAGATCGAGACCCGACGC chr16:46968914-Alternative-C;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Reference A atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta AGGTTCGCAGCT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAaggttcgcagctAGATCGAGACCCGACGC chr16:46968914-Reference-A;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Variant T atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GGATATACACCT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAggatatacacctAGATCGAGACCCGACGC chr16:46968914-Variant-T;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Variant T atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GGTCGCGAAGTT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAggtcgcgaagttAGATCGAGACCCGACGC chr16:46968914-Variant-T;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Variant T atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CTGCATGCATGA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAActgcatgcatgaAGATCGAGACCCGACGC chr16:46968914-Variant-T;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Variant T atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CGATCGCGCATA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcgatcgcgcataAGATCGAGACCCGACGC chr16:46968914-Variant-T;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Reference A atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GCGTATGAACGG CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAgcgtatgaacggAGATCGAGACCCGACGC chr16:46968914-Reference-A;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative G atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CGAATCAACCAC CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcgaatcaaccacAGATCGAGACCCGACGC chr16:46968914-Alternative-G;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Reference A atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta ACGACTACAACC CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAacgactacaaccAGATCGAGACCCGACGC chr16:46968914-Reference-A;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Variant T atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CATCTCGCTCGA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgTtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcatctcgctcgaAGATCGAGACCCGACGC chr16:46968914-Variant-T;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Reference A atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CAGGACCGAATA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcaggaccgaataAGATCGAGACCCGACGC chr16:46968914-Reference-A;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative G atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CGCGGTATAATA CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcgcggtataataAGATCGAGACCCGACGC chr16:46968914-Alternative-G;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Reference A atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GGTGGTCTAGTC CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgAtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAggtggtctagtcAGATCGAGACCCGACGC chr16:46968914-Reference-A;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative G atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta AGCAGCGCATGT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAagcagcgcatgtAGATCGAGACCCGACGC chr16:46968914-Alternative-G;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative G atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta GTGCTAATATCG CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAgtgctaatatcgAGATCGAGACCCGACGC chr16:46968914-Alternative-G;Patient-104 chr16:46968914-AT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 6.05 0.42 GPT2 50605 Alternative G atgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttcttta CAGTCGATTAGT CGACGCGGTCTCTCTCTatgcttatatggaaaaaccagaaaataaagaaaatgtgaaacccactgtgGtcctctaaccagagttaatcaagtctaacattctgggaatatttctttaAGAGGGAGACGGACGTCTCAATAAcagtcgattagtAGATCGAGACCCGACGC chr16:46968914-Alternative-G;Patient-104 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative G gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CGTATAGCTAAC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcgtatagctaacAGATCGAGACCCGACGC chr16:47518383-Alternative-G;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative G gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CTACGGCACAAC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAActacggcacaacAGATCGAGACCCGACGC chr16:47518383-Alternative-G;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative G gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GTATCATAGCGT CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAgtatcatagcgtAGATCGAGACCCGACGC chr16:47518383-Alternative-G;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative A gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt AGTGCGCAAGTC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAagtgcgcaagtcAGATCGAGACCCGACGC chr16:47518383-Alternative-A;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative G gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt AGATTGCGAACC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAagattgcgaaccAGATCGAGACCCGACGC chr16:47518383-Alternative-G;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative G gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt ATTGCGGTCTGG CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaGgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAattgcggtctggAGATCGAGACCCGACGC chr16:47518383-Alternative-G;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Reference T gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt AGATAGACGAAG CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAagatagacgaagAGATCGAGACCCGACGC chr16:47518383-Reference-T;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Variant C gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt ACTCTAGCTGAA CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAactctagctgaaAGATCGAGACCCGACGC chr16:47518383-Variant-C;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative A gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GTGCGCTGAATC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAgtgcgctgaatcAGATCGAGACCCGACGC chr16:47518383-Alternative-A;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Variant C gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GGCGGCATAGAT CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAggcggcatagatAGATCGAGACCCGACGC chr16:47518383-Variant-C;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Reference T gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GAGAGTAACCGA CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAgagagtaaccgaAGATCGAGACCCGACGC chr16:47518383-Reference-T;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Reference T gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt ACATCATCTTCG CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAacatcatcttcgAGATCGAGACCCGACGC chr16:47518383-Reference-T;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative A gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CAACCAGATAGA CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcaaccagatagaAGATCGAGACCCGACGC chr16:47518383-Alternative-A;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Variant C gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CGCAATGTGTGC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcgcaatgtgtgcAGATCGAGACCCGACGC chr16:47518383-Variant-C;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Reference T gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CAGCTCGACATA CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcagctcgacataAGATCGAGACCCGACGC chr16:47518383-Reference-T;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative A gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GTCAACATCAAG CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAgtcaacatcaagAGATCGAGACCCGACGC chr16:47518383-Alternative-A;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Alternative A gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CATCAATGCGCT CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaAgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcatcaatgcgctAGATCGAGACCCGACGC chr16:47518383-Alternative-A;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Reference T gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt GCATATCATGGT CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaTgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAgcatatcatggtAGATCGAGACCCGACGC chr16:47518383-Reference-T;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Variant C gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt ACTTCCGTCGAC CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAacttccgtcgacAGATCGAGACCCGACGC chr16:47518383-Variant-C;Patient-85 chr16:47518383-TC DeNovo Patient-85 intronic PHKB NA 4.95e-05 -0.23 0.57 -2.73 PHKB 23172 Variant C gagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgt CAGAGCGACATT CGACGCGGTCTCTCTCTgagggttcaaatgaagtataataataaataggagttgttaaataaaagtaCgtatatatgtatgtatgcatatacaaataattttggagcaatctcctgtAGAGGGAGACGGACGTCTCAATAAcagagcgacattAGATCGAGACCCGACGC chr16:47518383-Variant-C;Patient-85 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Reference T gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag ACGCTCCAACGA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAacgctccaacgaAGATCGAGACCCGACGC chr16:48204654-Reference-T;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Reference T gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag ACCTACTACCGG CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAacctactaccggAGATCGAGACCCGACGC chr16:48204654-Reference-T;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative G gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CGACAGTAGTCT CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcgacagtagtctAGATCGAGACCCGACGC chr16:48204654-Alternative-G;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative G gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag AATGCAACCACG CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAaatgcaaccacgAGATCGAGACCCGACGC chr16:48204654-Alternative-G;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative G gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CGCTGAGGCTAA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcgctgaggctaaAGATCGAGACCCGACGC chr16:48204654-Alternative-G;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Reference T gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag ACTCTTGAGCAA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAactcttgagcaaAGATCGAGACCCGACGC chr16:48204654-Reference-T;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Reference T gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CAATAATCGGAC CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcaataatcggacAGATCGAGACCCGACGC chr16:48204654-Reference-T;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative G gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CGCATCGGAACT CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcgcatcggaactAGATCGAGACCCGACGC chr16:48204654-Alternative-G;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative G gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GGTGGTATACAC CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaGgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAggtggtatacacAGATCGAGACCCGACGC chr16:48204654-Alternative-G;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Variant A gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag ATTGCTTGCATC CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAattgcttgcatcAGATCGAGACCCGACGC chr16:48204654-Variant-A;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Reference T gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag ATCGTAATCGCA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaTgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAatcgtaatcgcaAGATCGAGACCCGACGC chr16:48204654-Reference-T;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Variant A gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CGATACGGTAGT CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcgatacggtagtAGATCGAGACCCGACGC chr16:48204654-Variant-A;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Variant A gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GGTAACAAGCGG CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAggtaacaagcggAGATCGAGACCCGACGC chr16:48204654-Variant-A;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Variant A gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GGAATGGTTCGG CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAggaatggttcggAGATCGAGACCCGACGC chr16:48204654-Variant-A;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative C gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GATTGGACGTAA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAgattggacgtaaAGATCGAGACCCGACGC chr16:48204654-Alternative-C;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Variant A gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GTGTCACCGCTT CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaAgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAgtgtcaccgcttAGATCGAGACCCGACGC chr16:48204654-Variant-A;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative C gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CTACGACGATCA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAActacgacgatcaAGATCGAGACCCGACGC chr16:48204654-Alternative-C;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative C gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag CGACATCTTGCG CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAcgacatcttgcgAGATCGAGACCCGACGC chr16:48204654-Alternative-C;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative C gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag AGGCGGTCACTA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAaggcggtcactaAGATCGAGACCCGACGC chr16:48204654-Alternative-C;Patient-44 chr16:48204654-TA Inherited Patient-44 intronic ABCC11 NA 0.000247 0.15 5.09 0.18 ABCC11 64433 Alternative C gtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcag GTATCTGTCCTA CGACGCGGTCTCTCTCTgtgtctggcacacggttggtgtctgagtgccatcagccttgacttaggaaCgccaagtcatctcatctccatgagatgatgcatccatgacccgaagcagAGAGGGAGACGGACGTCTCAATAAgtatctgtcctaAGATCGAGACCCGACGC chr16:48204654-Alternative-C;Patient-44 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Reference G atctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GATATGTGCGTT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAgatatgtgcgttAGATCGAGACCCGACGC chr16:4900361-Reference-G;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Variant T atctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CGACTAGGTACG CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAcgactaggtacgAGATCGAGACCCGACGC chr16:4900361-Variant-T;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Variant T atctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GGCGATCCAACT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAggcgatccaactAGATCGAGACCCGACGC chr16:4900361-Variant-T;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative A atctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CTTACGCATCGG CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAActtacgcatcggAGATCGAGACCCGACGC chr16:4900361-Alternative-A;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Reference G atctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CAGACGTCGGAA CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAcagacgtcggaaAGATCGAGACCCGACGC chr16:4900361-Reference-G;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Reference G atctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ACTCATGATCCT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAactcatgatcctAGATCGAGACCCGACGC chr16:4900361-Reference-G;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Reference G atctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GTGAGGTCTTAT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAgtgaggtcttatAGATCGAGACCCGACGC chr16:4900361-Reference-G;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Variant T atctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GACGGCTGTTGT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAgacggctgttgtAGATCGAGACCCGACGC chr16:4900361-Variant-T;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Variant T atctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CTCATTAGCGTT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAActcattagcgttAGATCGAGACCCGACGC chr16:4900361-Variant-T;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Reference G atctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ATTCGCGAAGAA CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatGtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAattcgcgaagaaAGATCGAGACCCGACGC chr16:4900361-Reference-G;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative C atctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GGCCATCACGTT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAggccatcacgttAGATCGAGACCCGACGC chr16:4900361-Alternative-C;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative A atctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GTATATCAGCGT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAgtatatcagcgtAGATCGAGACCCGACGC chr16:4900361-Alternative-A;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Variant T atctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GGACCTCGTATC CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatTtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAggacctcgtatcAGATCGAGACCCGACGC chr16:4900361-Variant-T;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative A atctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ACGTGAATAGCA CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAacgtgaatagcaAGATCGAGACCCGACGC chr16:4900361-Alternative-A;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative A atctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaagga GAGACTGATGTT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAgagactgatgttAGATCGAGACCCGACGC chr16:4900361-Alternative-A;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative C atctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ACGTTGTCATTC CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAacgttgtcattcAGATCGAGACCCGACGC chr16:4900361-Alternative-C;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative C atctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CATTGAGTGGTT CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAcattgagtggttAGATCGAGACCCGACGC chr16:4900361-Alternative-C;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative C atctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ACTAATAACGCG CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAactaataacgcgAGATCGAGACCCGACGC chr16:4900361-Alternative-C;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative A atctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaagga CATTAAGCACCA CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatAtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAcattaagcaccaAGATCGAGACCCGACGC chr16:4900361-Alternative-A;Patient-104 chr16:4900361-GT DeNovo Patient-104 intronic UBN1 NA 3.91e-05 -0.33 0.3 -6.2 UBN1 2448 Alternative C atctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaagga ACTCTCTGAACC CGACGCGGTCTCTCTCTatctaggattgaagctgcagtctctcagacttggactgagataaggttatCtgtttactgcctggacagggggagtaggacctggttgccaattcaaggaAGAGGGAGACGGACGTCTCAATAAactctctgaaccAGATCGAGACCCGACGC chr16:4900361-Alternative-C;Patient-104 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Variant T tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc GCAAGTAGCTAA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAgcaagtagctaaAGATCGAGACCCGACGC chr16:49880795-Variant-T;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Variant T tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc ATCGCGCGTCAT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAatcgcgcgtcatAGATCGAGACCCGACGC chr16:49880795-Variant-T;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative A tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc CTTGAGTGTAGT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAActtgagtgtagtAGATCGAGACCCGACGC chr16:49880795-Alternative-A;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative A tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc CGACGTTGTGCA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAcgacgttgtgcaAGATCGAGACCCGACGC chr16:49880795-Alternative-A;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Variant T tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AGCAGGTCGTCT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAagcaggtcgtctAGATCGAGACCCGACGC chr16:49880795-Variant-T;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative A tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AGGAACACGCGA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAaggaacacgcgaAGATCGAGACCCGACGC chr16:49880795-Alternative-A;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative A tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AAGTACTCGCTT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAaagtactcgcttAGATCGAGACCCGACGC chr16:49880795-Alternative-A;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Reference C tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AGCGCATCGAAC CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAagcgcatcgaacAGATCGAGACCCGACGC chr16:49880795-Reference-C;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Variant T tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AAGGTTGGTTCT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAaaggttggttctAGATCGAGACCCGACGC chr16:49880795-Variant-T;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Reference C tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AGGTATCGCGTC CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAaggtatcgcgtcAGATCGAGACCCGACGC chr16:49880795-Reference-C;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Reference C tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc AGTACTGCGTTA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAagtactgcgttaAGATCGAGACCCGACGC chr16:49880795-Reference-C;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative A tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc ACTATCTGCGAA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccAcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAactatctgcgaaAGATCGAGACCCGACGC chr16:49880795-Alternative-A;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Variant T tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc GATCAGCGCTGT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccTcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAgatcagcgctgtAGATCGAGACCCGACGC chr16:49880795-Variant-T;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Reference C tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc CTTATCGTCGAT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAActtatcgtcgatAGATCGAGACCCGACGC chr16:49880795-Reference-C;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative G tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc CAGCGTGTGGTT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAcagcgtgtggttAGATCGAGACCCGACGC chr16:49880795-Alternative-G;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative G tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc GATGCGAAGGAC CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAgatgcgaaggacAGATCGAGACCCGACGC chr16:49880795-Alternative-G;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative G tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc ACCATGTCCTAC CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAaccatgtcctacAGATCGAGACCCGACGC chr16:49880795-Alternative-G;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Reference C tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc CGGACGAAGCTT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccCcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAcggacgaagcttAGATCGAGACCCGACGC chr16:49880795-Reference-C;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative G tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc GTGTCGACTCCT CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAgtgtcgactcctAGATCGAGACCCGACGC chr16:49880795-Alternative-G;Patient-92 chr16:49880795-CT Inherited Patient-92 intronic ZNF423 0.000223 0.000188 0.11 4.43 2.27 ZNF423 11034 Alternative G tatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgcc ACGTTCCATCTA CGACGCGGTCTCTCTCTtatgttgctggtggctccaaggttctgcagcctccaggccaaggaggtccGcctgcccagtcttccagcctgaatgtgtagtcataccaacccagctgccAGAGGGAGACGGACGTCTCAATAAacgttccatctaAGATCGAGACCCGACGC chr16:49880795-Alternative-G;Patient-92 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative G tagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CAGTACCGCATT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAcagtaccgcattAGATCGAGACCCGACGC chr16:50140745-Alternative-G;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Reference T tagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CAAGATGCTGAA CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAcaagatgctgaaAGATCGAGACCCGACGC chr16:50140745-Reference-T;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative G tagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GGCTTAGCGCAA CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAggcttagcgcaaAGATCGAGACCCGACGC chr16:50140745-Alternative-G;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Reference T tagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GAGCTCGTAACA CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAgagctcgtaacaAGATCGAGACCCGACGC chr16:50140745-Reference-T;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Reference T tagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CATTGACGGCGT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAcattgacggcgtAGATCGAGACCCGACGC chr16:50140745-Reference-T;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Reference T tagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CTCTCGATTGCG CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAActctcgattgcgAGATCGAGACCCGACGC chr16:50140745-Reference-T;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative A tagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CTAGGTTAACAC CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAActaggttaacacAGATCGAGACCCGACGC chr16:50140745-Alternative-A;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative G tagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GTCAATTCTGGT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAgtcaattctggtAGATCGAGACCCGACGC chr16:50140745-Alternative-G;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Variant C tagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc AACGCATCCGAC CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAaacgcatccgacAGATCGAGACCCGACGC chr16:50140745-Variant-C;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative A tagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GCGCGAGTTACA CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAgcgcgagttacaAGATCGAGACCCGACGC chr16:50140745-Alternative-A;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative G tagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc ATTACGAATCGG CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAattacgaatcggAGATCGAGACCCGACGC chr16:50140745-Alternative-G;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative A tagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc AGCCAGAACGAG CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAagccagaacgagAGATCGAGACCCGACGC chr16:50140745-Alternative-A;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative A tagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CTTGTCTTCTAC CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAActtgtcttctacAGATCGAGACCCGACGC chr16:50140745-Alternative-A;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative A tagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc CGAGGACTTCGT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataAagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAcgaggacttcgtAGATCGAGACCCGACGC chr16:50140745-Alternative-A;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Reference T tagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GATCCTTCAACT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataTagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAgatccttcaactAGATCGAGACCCGACGC chr16:50140745-Reference-T;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Variant C tagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GTCGTTAGACGC CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAgtcgttagacgcAGATCGAGACCCGACGC chr16:50140745-Variant-C;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Alternative G tagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc AGACGAACTAGT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataGagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAagacgaactagtAGATCGAGACCCGACGC chr16:50140745-Alternative-G;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Variant C tagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc ACCACATAGGTT CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAaccacataggttAGATCGAGACCCGACGC chr16:50140745-Variant-C;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Variant C tagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc GGAGGTCTTGTC CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAggaggtcttgtcAGATCGAGACCCGACGC chr16:50140745-Variant-C;Patient-88 chr16:50140745-TC DeNovo Patient-88 intergenic NA 0.000513 -0.12 1.2 -4.25 CNEP1R1 81555 Variant C tagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagcc ATCGCGCATACG CGACGCGGTCTCTCTCTtagatttcatctgcactgtgatgtattttacagttttcacctatatgataCagactgttgggaaaccaagattgtttcccagccctaagagttcctagccAGAGGGAGACGGACGTCTCAATAAatcgcgcatacgAGATCGAGACCCGACGC chr16:50140745-Variant-C;Patient-88 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Variant G tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga AGCATCGCGTCT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAagcatcgcgtctAGATCGAGACCCGACGC chr16:52562353-Variant-G;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative T tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga ACGAACCTAGTT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAacgaacctagttAGATCGAGACCCGACGC chr16:52562353-Alternative-T;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative T tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga CGAAGAGCTCGA CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAcgaagagctcgaAGATCGAGACCCGACGC chr16:52562353-Alternative-T;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Variant G tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga CATAAGTAACCG CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAcataagtaaccgAGATCGAGACCCGACGC chr16:52562353-Variant-G;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative T tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga AGGTGATGACAT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAaggtgatgacatAGATCGAGACCCGACGC chr16:52562353-Alternative-T;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative T tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga AGATTCGCTCGT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAagattcgctcgtAGATCGAGACCCGACGC chr16:52562353-Alternative-T;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Reference A tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GGCAGTTAAGAT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAggcagttaagatAGATCGAGACCCGACGC chr16:52562353-Reference-A;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative T tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga CTGGTTGGTATA CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccTgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAActggttggtataAGATCGAGACCCGACGC chr16:52562353-Alternative-T;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Reference A tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga AGCAAGCCGGTT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAagcaagccggttAGATCGAGACCCGACGC chr16:52562353-Reference-A;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Reference A tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GTCGTGCAGTGT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgtcgtgcagtgtAGATCGAGACCCGACGC chr16:52562353-Reference-A;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative C tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GTCGTAGATCTA CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgtcgtagatctaAGATCGAGACCCGACGC chr16:52562353-Alternative-C;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Reference A tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga CTAGGCTATACT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAActaggctatactAGATCGAGACCCGACGC chr16:52562353-Reference-A;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative C tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GCATGGTAATGA CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgcatggtaatgaAGATCGAGACCCGACGC chr16:52562353-Alternative-C;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Variant G tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GTCAAGAGTCAA CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgtcaagagtcaaAGATCGAGACCCGACGC chr16:52562353-Variant-G;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative C tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GGCTTGATTCGG CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAggcttgattcggAGATCGAGACCCGACGC chr16:52562353-Alternative-C;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative C tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga CGTCGTTAACTT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAcgtcgttaacttAGATCGAGACCCGACGC chr16:52562353-Alternative-C;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Alternative C tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GTTACGTCGAAT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccCgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgttacgtcgaatAGATCGAGACCCGACGC chr16:52562353-Alternative-C;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Reference A tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga AGTTCGAACGGC CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccAgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAagttcgaacggcAGATCGAGACCCGACGC chr16:52562353-Reference-A;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Variant G tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GGTTCGTCCACT CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAggttcgtccactAGATCGAGACCCGACGC chr16:52562353-Variant-G;Patient-90 chr16:52562353-AG DeNovo Patient-90 intronic TOX3 0.000321 9.9e-05 0.43 8.66 1.89 TOX3 19360 Variant G tgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcagga GATTCGAGAGCG CGACGCGGTCTCTCTCTtgggcaagacttgatctgttttttttttcaccaccatctgtccagcacccGgcagagtgaaatctccatttcagaaatgatgatgctgagaggctcaggaAGAGGGAGACGGACGTCTCAATAAgattcgagagcgAGATCGAGACCCGACGC chr16:52562353-Variant-G;Patient-90 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Variant G ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt CATAATGCGTGA CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAcataatgcgtgaAGATCGAGACCCGACGC chr16:53396774-Variant-G;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Variant G ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt ACCTTATGTCAC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAaccttatgtcacAGATCGAGACCCGACGC chr16:53396774-Variant-G;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Variant G ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt AATGACGCTGTT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAaatgacgctgttAGATCGAGACCCGACGC chr16:53396774-Variant-G;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Variant G ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GCGCTGAATCGT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgcgctgaatcgtAGATCGAGACCCGACGC chr16:53396774-Variant-G;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Variant G ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GTTGAGATACAG CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaGtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgttgagatacagAGATCGAGACCCGACGC chr16:53396774-Variant-G;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative T ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt ACCTGGATGAAC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAacctggatgaacAGATCGAGACCCGACGC chr16:53396774-Alternative-T;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Reference A ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GTAATCGATGCT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgtaatcgatgctAGATCGAGACCCGACGC chr16:53396774-Reference-A;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative T ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt CGACGCGATCAT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAcgacgcgatcatAGATCGAGACCCGACGC chr16:53396774-Alternative-T;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative T ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GAGTGTTGTACT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgagtgttgtactAGATCGAGACCCGACGC chr16:53396774-Alternative-T;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Reference A ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt CTGGTTATTGTC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAActggttattgtcAGATCGAGACCCGACGC chr16:53396774-Reference-A;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative C ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt CTATCGAAGTAC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAActatcgaagtacAGATCGAGACCCGACGC chr16:53396774-Alternative-C;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative C ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt AAGCAACACGGC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAaagcaacacggcAGATCGAGACCCGACGC chr16:53396774-Alternative-C;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Reference A ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt ACGCTTAATGCA CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAacgcttaatgcaAGATCGAGACCCGACGC chr16:53396774-Reference-A;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative T ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt ATACTAGATCGG CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAatactagatcggAGATCGAGACCCGACGC chr16:53396774-Alternative-T;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative C ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GTCCGTCAATCG CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgtccgtcaatcgAGATCGAGACCCGACGC chr16:53396774-Alternative-C;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Reference A ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt ACCTTGCATGTT CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAaccttgcatgttAGATCGAGACCCGACGC chr16:53396774-Reference-A;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative T ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GACAACAGCAAG CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaTtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgacaacagcaagAGATCGAGACCCGACGC chr16:53396774-Alternative-T;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Reference A ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GTGAACAGACAC CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaAtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgtgaacagacacAGATCGAGACCCGACGC chr16:53396774-Reference-A;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative C ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GATCGACGCAGA CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgatcgacgcagaAGATCGAGACCCGACGC chr16:53396774-Alternative-C;Patient-92 chr16:53396774-AG DeNovo Patient-92 intergenic 6.4e-05 0.000513 -0.28 0.41 -1.11 RBL2 71576 Alternative C ccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggatt GCAGTTGAGCGA CGACGCGGTCTCTCTCTccataggcaggggccaggaatggattttaaaggcaaagttctcagacccaCtgggaacatgaactggtaaactctcctcaactcccaaagaaaaaggattAGAGGGAGACGGACGTCTCAATAAgcagttgagcgaAGATCGAGACCCGACGC chr16:53396774-Alternative-C;Patient-92 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative C aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag GTAAGGTTGGAT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtaaggttggatAGATCGAGACCCGACGC chr16:53423322-Alternative-C;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative C aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag GTGAACTCACGT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtgaactcacgtAGATCGAGACCCGACGC chr16:53423322-Alternative-C;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative C aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGGTACATTGAT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcggtacattgatAGATCGAGACCCGACGC chr16:53423322-Alternative-C;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative C aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGCACTGCGTAT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgcactgcgtatAGATCGAGACCCGACGC chr16:53423322-Alternative-C;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative C aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag ACATAGCAAGCA CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtCtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAacatagcaagcaAGATCGAGACCCGACGC chr16:53423322-Alternative-C;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative T aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag ACCTTGGTAACA CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAaccttggtaacaAGATCGAGACCCGACGC chr16:53423322-Alternative-T;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Reference G aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGAAGCAACCGA CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgaagcaaccgaAGATCGAGACCCGACGC chr16:53423322-Reference-G;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative T aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag GGTCGTATCACG CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAggtcgtatcacgAGATCGAGACCCGACGC chr16:53423322-Alternative-T;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Reference G aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGCCGTTGTACT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgccgttgtactAGATCGAGACCCGACGC chr16:53423322-Reference-G;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Reference G aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag ACTTACATCGCG CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAacttacatcgcgAGATCGAGACCCGACGC chr16:53423322-Reference-G;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Reference G aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CTCTAAGCGTGC CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAActctaagcgtgcAGATCGAGACCCGACGC chr16:53423322-Reference-G;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative T aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag GTGGCATACGAG CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAgtggcatacgagAGATCGAGACCCGACGC chr16:53423322-Alternative-T;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Variant A aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGTTGTGTAGAT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgttgtgtagatAGATCGAGACCCGACGC chr16:53423322-Variant-A;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Reference G aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGTAATGACACG CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtGtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgtaatgacacgAGATCGAGACCCGACGC chr16:53423322-Reference-G;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Variant A aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag GGCCAACACAAC CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAggccaacacaacAGATCGAGACCCGACGC chr16:53423322-Variant-A;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative T aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag AGGTTACACGGC CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAaggttacacggcAGATCGAGACCCGACGC chr16:53423322-Alternative-T;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Variant A aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGGACTTACAAC CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcggacttacaacAGATCGAGACCCGACGC chr16:53423322-Variant-A;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Variant A aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CATATGCGTACT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcatatgcgtactAGATCGAGACCCGACGC chr16:53423322-Variant-A;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Variant A aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag CGAGATCGCAGT CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtAtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAcgagatcgcagtAGATCGAGACCCGACGC chr16:53423322-Variant-A;Patient-84 chr16:53423322-GA Inherited Patient-84 intergenic 6.4e-05 0.000513 0.01 2.85 0.57 RBL2 45028 Alternative T aacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggag AAGTGCTCGTAA CGACGCGGTCTCTCTCTaacatggtgaaaagttgtctctactaaaaatacaaaaaagttagctgggtTtggtggtgggcacctgtaatcccagctactcaggaggctgaggcaggagAGAGGGAGACGGACGTCTCAATAAaagtgctcgtaaAGATCGAGACCCGACGC chr16:53423322-Alternative-T;Patient-84 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative G tggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg AACAGCTTGGAA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaacagcttggaaAGATCGAGACCCGACGC chr16:53491193-Alternative-G;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative G tggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ACGTTGTTCGCG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAacgttgttcgcgAGATCGAGACCCGACGC chr16:53491193-Alternative-G;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative G tggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg GGACCTAAGCGT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAggacctaagcgtAGATCGAGACCCGACGC chr16:53491193-Alternative-G;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative G tggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg CAACCTTCGCCT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAcaaccttcgcctAGATCGAGACCCGACGC chr16:53491193-Alternative-G;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Variant T tggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg CACGAAGACTGA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAcacgaagactgaAGATCGAGACCCGACGC chr16:53491193-Variant-T;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative C tggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg GTACACTAGCGA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAgtacactagcgaAGATCGAGACCCGACGC chr16:53491193-Alternative-C;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative G tggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ATTGCTCAACGC CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagGtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAattgctcaacgcAGATCGAGACCCGACGC chr16:53491193-Alternative-G;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Variant T tggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ACCAAGCGGCTA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaccaagcggctaAGATCGAGACCCGACGC chr16:53491193-Variant-T;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative C tggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg GATGTGATAGCA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAgatgtgatagcaAGATCGAGACCCGACGC chr16:53491193-Alternative-C;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative C tggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg AGGCGAGTCACT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaggcgagtcactAGATCGAGACCCGACGC chr16:53491193-Alternative-C;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative C tggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg GTAGTAGGTAAG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAgtagtaggtaagAGATCGAGACCCGACGC chr16:53491193-Alternative-C;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Variant T tggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg AAGGTGATGACG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaaggtgatgacgAGATCGAGACCCGACGC chr16:53491193-Variant-T;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Variant T tggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ACTACGTGAAGG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAactacgtgaaggAGATCGAGACCCGACGC chr16:53491193-Variant-T;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Variant T tggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg AGTCGATAACAG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagTtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAagtcgataacagAGATCGAGACCCGACGC chr16:53491193-Variant-T;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Alternative C tggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ACCAACCGGAGT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagCtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaccaaccggagtAGATCGAGACCCGACGC chr16:53491193-Alternative-C;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Reference A tggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg ATTGGAACGCGG CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAattggaacgcggAGATCGAGACCCGACGC chr16:53491193-Reference-A;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Reference A tggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg AAGGTTAGCAGT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAaaggttagcagtAGATCGAGACCCGACGC chr16:53491193-Reference-A;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Reference A tggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg CTCGGTTGGACA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAActcggttggacaAGATCGAGACCCGACGC chr16:53491193-Reference-A;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Reference A tggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg GGCTCGTACATA CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAggctcgtacataAGATCGAGACCCGACGC chr16:53491193-Reference-A;Patient-93 chr16:53491193-AT Inherited Patient-93 intronic RBL2 NA 4.95e-05 -0.04 2.13 -0.53 RBL2 22841 Reference A tggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcgg CGAGTGTATGTT CGACGCGGTCTCTCTCTtggggtcatcagggtgggtacagatagctttttttttttttttttttgagAtggagtctcgctctgtcacccaggctggagtgcagtggtgcaatctcggAGAGGGAGACGGACGTCTCAATAAcgagtgtatgttAGATCGAGACCCGACGC chr16:53491193-Reference-A;Patient-93 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative A cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ATCCGAGCAGTC CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAatccgagcagtcAGATCGAGACCCGACGC chr16:54251383-Alternative-A;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative T cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ATATGCTCGTCT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAatatgctcgtctAGATCGAGACCCGACGC chr16:54251383-Alternative-T;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Reference C cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg AATGGTTGGAAC CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAaatggttggaacAGATCGAGACCCGACGC chr16:54251383-Reference-C;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Reference C cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GGCCGGTGATTA CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAggccggtgattaAGATCGAGACCCGACGC chr16:54251383-Reference-C;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative A cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg CGACGAATCAAT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAcgacgaatcaatAGATCGAGACCCGACGC chr16:54251383-Alternative-A;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Reference C cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GTTGTTCGGTAA CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAgttgttcggtaaAGATCGAGACCCGACGC chr16:54251383-Reference-C;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative T cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ATAATGCGGCGG CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAataatgcggcggAGATCGAGACCCGACGC chr16:54251383-Alternative-T;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative T cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GGTCTTGGTGGT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAggtcttggtggtAGATCGAGACCCGACGC chr16:54251383-Alternative-T;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative T cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GATGTTCGCGAC CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAgatgttcgcgacAGATCGAGACCCGACGC chr16:54251383-Alternative-T;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Reference C cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ACTCCGACGAAT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAactccgacgaatAGATCGAGACCCGACGC chr16:54251383-Reference-C;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Variant G cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GGTCATGTATGG CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAggtcatgtatggAGATCGAGACCCGACGC chr16:54251383-Variant-G;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative A cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ACGCTAGTCATT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAacgctagtcattAGATCGAGACCCGACGC chr16:54251383-Alternative-A;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Variant G cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg CAAGTCGCATAT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAcaagtcgcatatAGATCGAGACCCGACGC chr16:54251383-Variant-G;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Variant G cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg ACCGATAACGAA CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAaccgataacgaaAGATCGAGACCCGACGC chr16:54251383-Variant-G;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative A cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GAAGATGTGGTT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAgaagatgtggttAGATCGAGACCCGACGC chr16:54251383-Alternative-A;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Variant G cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg CTTACGCTGGAA CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAActtacgctggaaAGATCGAGACCCGACGC chr16:54251383-Variant-G;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Reference C cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg CATCAGAGATCG CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccCctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAcatcagagatcgAGATCGAGACCCGACGC chr16:54251383-Reference-C;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Variant G cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GTAACGACTGGT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccGctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAgtaacgactggtAGATCGAGACCCGACGC chr16:54251383-Variant-G;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative T cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GGTATTCCGAAG CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccTctgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAggtattccgaagAGATCGAGACCCGACGC chr16:54251383-Alternative-T;Patient-57 chr16:54251383-CG DeNovo Patient-57 intergenic 3.2e-05 0.001538462 -0.35 0.25 -0.45 IRX3 68994 Alternative A cagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctg GCCTTGTCTGGT CGACGCGGTCTCTCTCTcagaaacatgtgtcacttcaccctcagttggcagaggatgcagcctacccActgtgcctacagcctaccccctgcgccactgaaggctctggctctgctgAGAGGGAGACGGACGTCTCAATAAgccttgtctggtAGATCGAGACCCGACGC chr16:54251383-Alternative-A;Patient-57 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Variant G acatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt AACCGAGTACAG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAaaccgagtacagAGATCGAGACCCGACGC chr16:54381995-Variant-G;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Variant G acatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt GTACCGAATCCT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAgtaccgaatcctAGATCGAGACCCGACGC chr16:54381995-Variant-G;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Variant G acatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt GTGCGCTAGTCT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAgtgcgctagtctAGATCGAGACCCGACGC chr16:54381995-Variant-G;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Variant G acatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CAGTCCGAAGCT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcagtccgaagctAGATCGAGACCCGACGC chr16:54381995-Variant-G;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Variant G acatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CATTGTTACCAC CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttGtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcattgttaccacAGATCGAGACCCGACGC chr16:54381995-Variant-G;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative T acatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt ACACCTCGATCG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAacacctcgatcgAGATCGAGACCCGACGC chr16:54381995-Alternative-T;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative T acatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt ATACGGCTTGAT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAatacggcttgatAGATCGAGACCCGACGC chr16:54381995-Alternative-T;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative T acatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt AATGGATTGTGG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAaatggattgtggAGATCGAGACCCGACGC chr16:54381995-Alternative-T;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative T acatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt ACCGTAGATGAG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAaccgtagatgagAGATCGAGACCCGACGC chr16:54381995-Alternative-T;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative T acatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CTCGCCATCGTT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttTtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAActcgccatcgttAGATCGAGACCCGACGC chr16:54381995-Alternative-T;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Reference A acatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt AAGCGGCTACGA CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAaagcggctacgaAGATCGAGACCCGACGC chr16:54381995-Reference-A;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Reference A acatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CGTTATACTACC CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcgttatactaccAGATCGAGACCCGACGC chr16:54381995-Reference-A;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Reference A acatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt ACGATGCATGTT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAacgatgcatgttAGATCGAGACCCGACGC chr16:54381995-Reference-A;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Reference A acatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CGGAAGTTGGCA CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcggaagttggcaAGATCGAGACCCGACGC chr16:54381995-Reference-A;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Reference A acatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CAAGTAGCGTCC CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttAtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcaagtagcgtccAGATCGAGACCCGACGC chr16:54381995-Reference-A;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative C acatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CAGCACAATCCT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcagcacaatcctAGATCGAGACCCGACGC chr16:54381995-Alternative-C;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative C acatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt ACTTCGTGAGCG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAacttcgtgagcgAGATCGAGACCCGACGC chr16:54381995-Alternative-C;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative C acatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt AACAACTCGCCT CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAaacaactcgcctAGATCGAGACCCGACGC chr16:54381995-Alternative-C;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative C acatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt GATCGTTACAAG CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAgatcgttacaagAGATCGAGACCCGACGC chr16:54381995-Alternative-C;Patient-35 chr16:54381995-AG DeNovo Patient-35 intergenic NA 0.000513 0.01 2.79 -0.18 IRX3 61616 Alternative C acatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgt CGACAGCCAAGA CGACGCGGTCTCTCTCTacatttagcttagcttaatcataaacacacttccagttactgagtattttCtatgtgctagattctgcccagagtgcagagtgcttttttattgctttgtAGAGGGAGACGGACGTCTCAATAAcgacagccaagaAGATCGAGACCCGACGC chr16:54381995-Alternative-C;Patient-35 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Variant C aggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ATTGGAGCTACA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAattggagctacaAGATCGAGACCCGACGC chr16:55032466-Variant-C;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Reference G aggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag GTAGGTCGTCCA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAgtaggtcgtccaAGATCGAGACCCGACGC chr16:55032466-Reference-G;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative A aggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag GTTAAGTCGCGC CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAgttaagtcgcgcAGATCGAGACCCGACGC chr16:55032466-Alternative-A;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Reference G aggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag AGGTATTCTACG CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAaggtattctacgAGATCGAGACCCGACGC chr16:55032466-Reference-G;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Reference G aggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ACAAGGTGTTGT CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAacaaggtgttgtAGATCGAGACCCGACGC chr16:55032466-Reference-G;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Variant C aggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ACCTGTTCAAGA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAacctgttcaagaAGATCGAGACCCGACGC chr16:55032466-Variant-C;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Variant C aggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CTGCGATCGTCT CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAActgcgatcgtctAGATCGAGACCCGACGC chr16:55032466-Variant-C;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Reference G aggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CAAGCGCTCCTA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAcaagcgctcctaAGATCGAGACCCGACGC chr16:55032466-Reference-G;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Variant C aggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag GATTCGGCCAAG CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAgattcggccaagAGATCGAGACCCGACGC chr16:55032466-Variant-C;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Variant C aggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ATTGCCATCGAA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacCactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAattgccatcgaaAGATCGAGACCCGACGC chr16:55032466-Variant-C;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative A aggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ACTCTATCGTAC CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAactctatcgtacAGATCGAGACCCGACGC chr16:55032466-Alternative-A;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Reference G aggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ATAACGAGCGAG CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacGactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAataacgagcgagAGATCGAGACCCGACGC chr16:55032466-Reference-G;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative A aggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CGGCGCCAATAT CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAcggcgccaatatAGATCGAGACCCGACGC chr16:55032466-Alternative-A;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative A aggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag AAGCGGTTGCGA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAaagcggttgcgaAGATCGAGACCCGACGC chr16:55032466-Alternative-A;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative T aggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag ATCATCGTCAGA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAatcatcgtcagaAGATCGAGACCCGACGC chr16:55032466-Alternative-T;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative T aggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CTCATGATGCGC CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAActcatgatgcgcAGATCGAGACCCGACGC chr16:55032466-Alternative-T;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative A aggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CTTACCGTACTA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacAactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAActtaccgtactaAGATCGAGACCCGACGC chr16:55032466-Alternative-A;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative T aggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag CTAGTGGTAACG CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAActagtggtaacgAGATCGAGACCCGACGC chr16:55032466-Alternative-T;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative T aggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag GGCAATAGCACG CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAggcaatagcacgAGATCGAGACCCGACGC chr16:55032466-Alternative-T;Patient-23 chr16:55032466-GC DeNovo Patient-23 intergenic 9.6e-05 0.000513 -0.46 0.12 -8.49 IRX5 67354 Alternative T aggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaag GAGTGTCCATTA CGACGCGGTCTCTCTCTaggggtcccccctgccatctctcctcatacacccccttctccttccacacTactctcctcaaaggtatttccacttaattttgtttagaaatttgaaaagAGAGGGAGACGGACGTCTCAATAAgagtgtccattaAGATCGAGACCCGACGC chr16:55032466-Alternative-T;Patient-23 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Variant A ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat CGGTCATCGCTT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAcggtcatcgcttAGATCGAGACCCGACGC chr16:55318376-Variant-A;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Variant A ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat AGCTCTTCGTCG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAagctcttcgtcgAGATCGAGACCCGACGC chr16:55318376-Variant-A;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Variant A ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GTACAGTACGAC CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgtacagtacgacAGATCGAGACCCGACGC chr16:55318376-Variant-A;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative T ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GTGCGGTTATCG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgtgcggttatcgAGATCGAGACCCGACGC chr16:55318376-Alternative-T;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Reference G ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat CGAAGCCGACTT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAcgaagccgacttAGATCGAGACCCGACGC chr16:55318376-Reference-G;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative T ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GTTACGCTGCGA CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgttacgctgcgaAGATCGAGACCCGACGC chr16:55318376-Alternative-T;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative C ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat ACCGTAACGCGA CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAaccgtaacgcgaAGATCGAGACCCGACGC chr16:55318376-Alternative-C;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative T ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat ATCGCGAGAATA CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAatcgcgagaataAGATCGAGACCCGACGC chr16:55318376-Alternative-T;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative T ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat AAGATGTAGTCG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAaagatgtagtcgAGATCGAGACCCGACGC chr16:55318376-Alternative-T;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative T ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat AACGACAGACTA CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacTtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAaacgacagactaAGATCGAGACCCGACGC chr16:55318376-Alternative-T;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Reference G ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GTTATAGGCCTT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgttataggccttAGATCGAGACCCGACGC chr16:55318376-Reference-G;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Variant A ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat AGGCTCATGGAG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAaggctcatggagAGATCGAGACCCGACGC chr16:55318376-Variant-A;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Reference G ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat CGTACCTACAGG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAcgtacctacaggAGATCGAGACCCGACGC chr16:55318376-Reference-G;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative C ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GACGCATCGTAC CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgacgcatcgtacAGATCGAGACCCGACGC chr16:55318376-Alternative-C;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Variant A ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GCGTATATCAGT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacAtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgcgtatatcagtAGATCGAGACCCGACGC chr16:55318376-Variant-A;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Reference G ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat ATCAACCACGCT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAatcaaccacgctAGATCGAGACCCGACGC chr16:55318376-Reference-G;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Reference G ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GATGCTTCTTGT CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacGtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgatgcttcttgtAGATCGAGACCCGACGC chr16:55318376-Reference-G;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative C ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GTGACTTCCAGG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAgtgacttccaggAGATCGAGACCCGACGC chr16:55318376-Alternative-C;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative C ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat AACCAAGTCGAG CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAaaccaagtcgagAGATCGAGACCCGACGC chr16:55318376-Alternative-C;Patient-104 chr16:55318376-GA DeNovo Patient-104 intergenic NA 3.91e-05 0.69 11 -2.16 IRX6 40094 Alternative C ctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagat GGTGACTTAAGA CGACGCGGTCTCTCTCTctttgttgctgctcagatcagaaatgaatcgggtctgaaaggaagctaacCtgcaattaaaaacatctcaaagaggtatttgttatgtgtgagaacagatAGAGGGAGACGGACGTCTCAATAAggtgacttaagaAGATCGAGACCCGACGC chr16:55318376-Alternative-C;Patient-104 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative G aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatac GACAAGGTACCT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAgacaaggtacctAGATCGAGACCCGACGC chr16:55486411-Alternative-G;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative G aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CTCTTACCTCTA CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAActcttacctctaAGATCGAGACCCGACGC chr16:55486411-Alternative-G;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative G aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatac GGTGGCCGTATT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAggtggccgtattAGATCGAGACCCGACGC chr16:55486411-Alternative-G;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative G aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CGCTGGCGTATT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAcgctggcgtattAGATCGAGACCCGACGC chr16:55486411-Alternative-G;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative G aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CATGACGCGTTC CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaGgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAcatgacgcgttcAGATCGAGACCCGACGC chr16:55486411-Alternative-G;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative A aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ATAAGTCGGAGT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAataagtcggagtAGATCGAGACCCGACGC chr16:55486411-Alternative-A;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Variant T aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatac GATCAGCCACTA CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAgatcagccactaAGATCGAGACCCGACGC chr16:55486411-Variant-T;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Variant T aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ATACTTCACGAG CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAatacttcacgagAGATCGAGACCCGACGC chr16:55486411-Variant-T;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Variant T aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatac GATGTCTAACGT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAgatgtctaacgtAGATCGAGACCCGACGC chr16:55486411-Variant-T;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Variant T aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ATTCATTCGTCG CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAattcattcgtcgAGATCGAGACCCGACGC chr16:55486411-Variant-T;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Reference C aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatac GTACACGGACAG CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAgtacacggacagAGATCGAGACCCGACGC chr16:55486411-Reference-C;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative A aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CGTCCAACCAAC CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAcgtccaaccaacAGATCGAGACCCGACGC chr16:55486411-Alternative-A;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative A aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ATACAACGGCGG CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAatacaacggcggAGATCGAGACCCGACGC chr16:55486411-Alternative-A;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative A aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ATCATAGCTGGT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAatcatagctggtAGATCGAGACCCGACGC chr16:55486411-Alternative-A;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Reference C aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CTCTACTATGGT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAActctactatggtAGATCGAGACCCGACGC chr16:55486411-Reference-C;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Variant T aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatac AACTCTACGCAT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaTgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAaactctacgcatAGATCGAGACCCGACGC chr16:55486411-Variant-T;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Reference C aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ACGAACGTCCAT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAacgaacgtccatAGATCGAGACCCGACGC chr16:55486411-Reference-C;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Alternative A aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatac ACTTGCCGCATC CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaAgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAacttgccgcatcAGATCGAGACCCGACGC chr16:55486411-Alternative-A;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Reference C aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatac AGGTAGGTTCGG CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAaggtaggttcggAGATCGAGACCCGACGC chr16:55486411-Reference-C;Patient-89 chr16:55486411-CT Inherited Patient-89 intergenic 0.000223 0.000513 -0.12 1.21 -2.02 MMP2 26669 Reference C aaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatac CGGTCATATCTT CGACGCGGTCTCTCTCTaaaacaccagcctcagactggctggtgcagcatcagcaaactgaagggaaCgagagtgacaaaagattttctttaagttaagagttgataatgcagatacAGAGGGAGACGGACGTCTCAATAAcggtcatatcttAGATCGAGACCCGACGC chr16:55486411-Reference-C;Patient-89 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative C gtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggta CACAATCCTCGG CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAcacaatcctcggAGATCGAGACCCGACGC chr16:55613365-Alternative-C;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative C gtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggta AGTTCCGTACTA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAagttccgtactaAGATCGAGACCCGACGC chr16:55613365-Alternative-C;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative G gtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggta GACGATTCGTCG CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgacgattcgtcgAGATCGAGACCCGACGC chr16:55613365-Alternative-G;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative C gtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggta GAGATGGAACTT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgagatggaacttAGATCGAGACCCGACGC chr16:55613365-Alternative-C;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative C gtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggta AACAGGCTCCGT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAaacaggctccgtAGATCGAGACCCGACGC chr16:55613365-Alternative-C;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Reference T gtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggta CGTTCTGCCACA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAcgttctgccacaAGATCGAGACCCGACGC chr16:55613365-Reference-T;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Variant A gtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggta CATCACGCTAAC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAcatcacgctaacAGATCGAGACCCGACGC chr16:55613365-Variant-A;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Reference T gtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggta GAATCTCGACTT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgaatctcgacttAGATCGAGACCCGACGC chr16:55613365-Reference-T;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative G gtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggta GTAACCTACGTC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgtaacctacgtcAGATCGAGACCCGACGC chr16:55613365-Alternative-G;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative C gtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggta CGAATCCTCGCT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattCtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAcgaatcctcgctAGATCGAGACCCGACGC chr16:55613365-Alternative-C;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Reference T gtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggta AGAACCGAACGC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAagaaccgaacgcAGATCGAGACCCGACGC chr16:55613365-Reference-T;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Reference T gtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggta GTATTGTGCGAT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgtattgtgcgatAGATCGAGACCCGACGC chr16:55613365-Reference-T;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative G gtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggta AAGGAATTCGCA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAaaggaattcgcaAGATCGAGACCCGACGC chr16:55613365-Alternative-G;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Variant A gtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggta GTTATCCGGTAA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgttatccggtaaAGATCGAGACCCGACGC chr16:55613365-Variant-A;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Variant A gtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggta GATGGTAATCGA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgatggtaatcgaAGATCGAGACCCGACGC chr16:55613365-Variant-A;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Reference T gtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggta ACTGTCAACTTC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattTtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAactgtcaacttcAGATCGAGACCCGACGC chr16:55613365-Reference-T;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Variant A gtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggta GTACGGTGGAAC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgtacggtggaacAGATCGAGACCCGACGC chr16:55613365-Variant-A;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative G gtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggta CAACCTGTCGAT CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAcaacctgtcgatAGATCGAGACCCGACGC chr16:55613365-Alternative-G;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Variant A gtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggta GCAGTCAGGTTC CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattAtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAgcagtcaggttcAGATCGAGACCCGACGC chr16:55613365-Variant-A;Patient-110 chr16:55613365-TA DeNovo Patient-110 intronic LPCAT2 NA 3.98e-05 0.12 4.68 -3.69 LPCAT2 70451 Alternative G gtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggta ACGCGGCTAACA CGACGCGGTCTCTCTCTgtcatagctaattattgaggacttatatgctaggcactcttctaaacattGtatatatattaacccatttaatctttatagcaagcctatctaatcggtaAGAGGGAGACGGACGTCTCAATAAacgcggctaacaAGATCGAGACCCGACGC chr16:55613365-Alternative-G;Patient-110 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative C agtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca ACTCTTGGCACG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAactcttggcacgAGATCGAGACCCGACGC chr16:55641283-Alternative-C;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative A agtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CATTAAGGACCT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAcattaaggacctAGATCGAGACCCGACGC chr16:55641283-Alternative-A;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative C agtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CTTGTCGATAAG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAActtgtcgataagAGATCGAGACCCGACGC chr16:55641283-Alternative-C;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative A agtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca AATCGCTCGACG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAaatcgctcgacgAGATCGAGACCCGACGC chr16:55641283-Alternative-A;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative A agtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GACCTTAGCCGA CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAgaccttagccgaAGATCGAGACCCGACGC chr16:55641283-Alternative-A;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative A agtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CTTACGAACGGC CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAActtacgaacggcAGATCGAGACCCGACGC chr16:55641283-Alternative-A;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Reference G agtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CGAGTTACCTAT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAcgagttacctatAGATCGAGACCCGACGC chr16:55641283-Reference-G;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative C agtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GGCTAAGCGTCA CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAggctaagcgtcaAGATCGAGACCCGACGC chr16:55641283-Alternative-C;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative C agtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca AGCCACCGTAAG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAagccaccgtaagAGATCGAGACCCGACGC chr16:55641283-Alternative-C;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative C agtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca ACTATAGCTGGT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatCtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAactatagctggtAGATCGAGACCCGACGC chr16:55641283-Alternative-C;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Variant T agtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CTCATATCGCAC CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAActcatatcgcacAGATCGAGACCCGACGC chr16:55641283-Variant-T;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Reference G agtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca ACTAGTAAGGAC CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAactagtaaggacAGATCGAGACCCGACGC chr16:55641283-Reference-G;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Reference G agtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GGCAATCAGACT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAggcaatcagactAGATCGAGACCCGACGC chr16:55641283-Reference-G;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Variant T agtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GGATCGATCAAG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAggatcgatcaagAGATCGAGACCCGACGC chr16:55641283-Variant-T;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Alternative A agtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GGATCTTACCGG CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatAtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAggatcttaccggAGATCGAGACCCGACGC chr16:55641283-Alternative-A;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Variant T agtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca GGAATTAGCGTC CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAggaattagcgtcAGATCGAGACCCGACGC chr16:55641283-Variant-T;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Variant T agtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CGTATACGAGTT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAcgtatacgagttAGATCGAGACCCGACGC chr16:55641283-Variant-T;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Reference G agtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CTAAGACCGACT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAActaagaccgactAGATCGAGACCCGACGC chr16:55641283-Reference-G;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Reference G agtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca AGCTAGGCGCTA CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatGtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAagctaggcgctaAGATCGAGACCCGACGC chr16:55641283-Reference-G;Patient-89 chr16:55641283-GT DeNovo Patient-89 intergenic NA 0.000513 -0.42 0.16 -2.24 SLC6A2 48258 Variant T agtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccaca CATTACGTTGCT CGACGCGGTCTCTCTCTagtttgttcatgcatttttattatttttatagttattttaattaaaatatTtaaacattggaatgcaaaaatctatctggaaacactcatgtaaaccacaAGAGGGAGACGGACGTCTCAATAAcattacgttgctAGATCGAGACCCGACGC chr16:55641283-Variant-T;Patient-89 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Variant C gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CACAGAACGCCA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcacagaacgccaAGATCGAGACCCGACGC chr16:56286878-Variant-C;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Variant C gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag AAGCAGTTACCT CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAaagcagttacctAGATCGAGACCCGACGC chr16:56286878-Variant-C;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative A gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CGTCAGCTAGCA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcgtcagctagcaAGATCGAGACCCGACGC chr16:56286878-Alternative-A;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Reference T gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATCGATGAGTCT CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAatcgatgagtctAGATCGAGACCCGACGC chr16:56286878-Reference-T;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Reference T gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CGATCAAGGTGG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcgatcaaggtggAGATCGAGACCCGACGC chr16:56286878-Reference-T;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Reference T gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CGAGTAGCTATA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcgagtagctataAGATCGAGACCCGACGC chr16:56286878-Reference-T;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Variant C gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag GCCGATTGGAAC CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAgccgattggaacAGATCGAGACCCGACGC chr16:56286878-Variant-C;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative A gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATCATAGTGCAC CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAatcatagtgcacAGATCGAGACCCGACGC chr16:56286878-Alternative-A;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative A gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATCTAGCTATGG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAatctagctatggAGATCGAGACCCGACGC chr16:56286878-Alternative-A;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative A gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag AGCAACCTACAG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAagcaacctacagAGATCGAGACCCGACGC chr16:56286878-Alternative-A;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Variant C gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CACATTGACGGT CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcacattgacggtAGATCGAGACCCGACGC chr16:56286878-Variant-C;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative G gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag GGTTGGTCTGAC CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAggttggtctgacAGATCGAGACCCGACGC chr16:56286878-Alternative-G;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Variant C gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CTCATGTCGGAG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcCgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAActcatgtcggagAGATCGAGACCCGACGC chr16:56286878-Variant-C;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative A gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag AACCGTCTTCGC CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcAgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAaaccgtcttcgcAGATCGAGACCCGACGC chr16:56286878-Alternative-A;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative G gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CTATGTTCACCA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAActatgttcaccaAGATCGAGACCCGACGC chr16:56286878-Alternative-G;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative G gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATCGCTTACCAT CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAatcgcttaccatAGATCGAGACCCGACGC chr16:56286878-Alternative-G;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Reference T gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag AGCGCAATCACG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAagcgcaatcacgAGATCGAGACCCGACGC chr16:56286878-Reference-T;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Reference T gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATCGAATCGGAA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcTgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAatcgaatcggaaAGATCGAGACCCGACGC chr16:56286878-Reference-T;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative G gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag CAGTAGCGACGA CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAcagtagcgacgaAGATCGAGACCCGACGC chr16:56286878-Alternative-G;Patient-52 chr16:56286878-TC DeNovo Patient-52 intronic GNAO1 NA 4.95e-05 0.19 5.77 -0.76 GNAO1 61626 Alternative G gcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaag ATTATGCCATCG CGACGCGGTCTCTCTCTgcaagtcaccctgaggaggtgccgtccatgctggagccagattctgaggcGgcaatggaactttgggctgatgcactcacattgcttgccttctgccaagAGAGGGAGACGGACGTCTCAATAAattatgccatcgAGATCGAGACCCGACGC chr16:56286878-Alternative-G;Patient-52 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Reference C agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GTATTCGAACGT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAgtattcgaacgtAGATCGAGACCCGACGC chr16:56287081-Reference-C;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Reference C agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct AGTCTATACGCA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAagtctatacgcaAGATCGAGACCCGACGC chr16:56287081-Reference-C;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative G agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct ACTCCTTCGCGT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAactccttcgcgtAGATCGAGACCCGACGC chr16:56287081-Alternative-G;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative G agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct CGGATCACAACG CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAcggatcacaacgAGATCGAGACCCGACGC chr16:56287081-Alternative-G;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Reference C agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GAATGCACAGTT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAgaatgcacagttAGATCGAGACCCGACGC chr16:56287081-Reference-C;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Variant T agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GGATCATAGCTA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAggatcatagctaAGATCGAGACCCGACGC chr16:56287081-Variant-T;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Variant T agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GTTGGTCGGTCT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAgttggtcggtctAGATCGAGACCCGACGC chr16:56287081-Variant-T;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative G agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct CTGCGTATACTT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAActgcgtatacttAGATCGAGACCCGACGC chr16:56287081-Alternative-G;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative G agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct ACCTAGGTAAGA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAacctaggtaagaAGATCGAGACCCGACGC chr16:56287081-Alternative-G;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative A agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct AAGCGTTGACTA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAaagcgttgactaAGATCGAGACCCGACGC chr16:56287081-Alternative-A;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative A agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct ACTCTGAGATGT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAactctgagatgtAGATCGAGACCCGACGC chr16:56287081-Alternative-A;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Reference C agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct AACGTACGGTTA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAaacgtacggttaAGATCGAGACCCGACGC chr16:56287081-Reference-C;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative G agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GTCGTCCGACTT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagGtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAgtcgtccgacttAGATCGAGACCCGACGC chr16:56287081-Alternative-G;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative A agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct CTCGCTTGGTCA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAActcgcttggtcaAGATCGAGACCCGACGC chr16:56287081-Alternative-A;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Variant T agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct CGAACGTCACTA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAcgaacgtcactaAGATCGAGACCCGACGC chr16:56287081-Variant-T;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Variant T agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GGTGAACGAACC CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAggtgaacgaaccAGATCGAGACCCGACGC chr16:56287081-Variant-T;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Variant T agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct AGTTGTACTCGA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagTtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAagttgtactcgaAGATCGAGACCCGACGC chr16:56287081-Variant-T;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative A agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct AGAATCGACGAA CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAagaatcgacgaaAGATCGAGACCCGACGC chr16:56287081-Alternative-A;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Alternative A agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct GATGAAGATAGG CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagAtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAgatgaagataggAGATCGAGACCCGACGC chr16:56287081-Alternative-A;Patient-8 chr16:56287081-CT DeNovo Patient-8 intronic GNAO1 NA 4.95e-05 0.53 9.62 2.03 GNAO1 61829 Reference C agctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccct ATCGATGTTCCT CGACGCGGTCTCTCTCTagctgctcctggtcctgggccccctcttgcctggcccaggttccagtcagCtctgcctaaaagactccccagggcagcctggctctggtgccaggaccctAGAGGGAGACGGACGTCTCAATAAatcgatgttcctAGATCGAGACCCGACGC chr16:56287081-Reference-C;Patient-8 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative A agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GACTAGTTGCGG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgactagttgcggAGATCGAGACCCGACGC chr16:56423013-Alternative-A;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Variant C agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacacccc ATAGGCATGAGA CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAataggcatgagaAGATCGAGACCCGACGC chr16:56423013-Variant-C;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative A agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GCAGACGGACTT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgcagacggacttAGATCGAGACCCGACGC chr16:56423013-Alternative-A;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Reference T agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacacccc CGTGACATCGAC CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAcgtgacatcgacAGATCGAGACCCGACGC chr16:56423013-Reference-T;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Reference T agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GTCGTCATAGCG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgtcgtcatagcgAGATCGAGACCCGACGC chr16:56423013-Reference-T;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Variant C agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GAAGTGTACAAG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgaagtgtacaagAGATCGAGACCCGACGC chr16:56423013-Variant-C;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Variant C agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GCAACGGAACGT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgcaacggaacgtAGATCGAGACCCGACGC chr16:56423013-Variant-C;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Variant C agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacacccc CTAGTCACACCG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAActagtcacaccgAGATCGAGACCCGACGC chr16:56423013-Variant-C;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative A agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GCGCGTAGTAGA CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgcgcgtagtagaAGATCGAGACCCGACGC chr16:56423013-Alternative-A;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative A agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GGACTCTTATGA CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAggactcttatgaAGATCGAGACCCGACGC chr16:56423013-Alternative-A;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Reference T agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GCAGTGTGGTTC CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgcagtgtggttcAGATCGAGACCCGACGC chr16:56423013-Reference-T;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Reference T agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacacccc CGTAATCGGCAG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAcgtaatcggcagAGATCGAGACCCGACGC chr16:56423013-Reference-T;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Variant C agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacacccc ATCCGTGGTGGT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaCacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAatccgtggtggtAGATCGAGACCCGACGC chr16:56423013-Variant-C;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative A agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacacccc ACTGCATTACCT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaAacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAactgcattacctAGATCGAGACCCGACGC chr16:56423013-Alternative-A;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative G agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacacccc CGTGCTCCTACA CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAcgtgctcctacaAGATCGAGACCCGACGC chr16:56423013-Alternative-G;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative G agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacacccc ACTAATATGCGG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAactaatatgcggAGATCGAGACCCGACGC chr16:56423013-Alternative-G;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative G agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GTGTAAGGCACG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgtgtaaggcacgAGATCGAGACCCGACGC chr16:56423013-Alternative-G;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Reference T agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacacccc ACTAACAGATGG CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaTacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAactaacagatggAGATCGAGACCCGACGC chr16:56423013-Reference-T;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative G agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacacccc AAGCATGTTGCT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAaagcatgttgctAGATCGAGACCCGACGC chr16:56423013-Alternative-G;Patient-84 chr16:56423013-TC DeNovo Patient-84 intronic AMFR NA 9.9e-05 -0.04 2.02 -6.42 AMFR 36436 Alternative G agtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacacccc GTCGCCAATATT CGACGCGGTCTCTCTCTagtgaaatgtcgttatggggcacatgactgtataatattaaactggtctaGacagggcaatttataactaaaatagtatctgcttaagggagaacaccccAGAGGGAGACGGACGTCTCAATAAgtcgccaatattAGATCGAGACCCGACGC chr16:56423013-Alternative-G;Patient-84 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Variant G aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CGCGAACTCGTT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcgcgaactcgttAGATCGAGACCCGACGC chr16:56613118-Variant-G;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Variant G aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CTTGAATCGCTT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAActtgaatcgcttAGATCGAGACCCGACGC chr16:56613118-Variant-G;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Variant G aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccag AGTAAGGCTGAT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAagtaaggctgatAGATCGAGACCCGACGC chr16:56613118-Variant-G;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Variant G aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccag GTAGATAGAGCT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAgtagatagagctAGATCGAGACCCGACGC chr16:56613118-Variant-G;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Variant G aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CAACAGATACGA CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgGcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcaacagatacgaAGATCGAGACCCGACGC chr16:56613118-Variant-G;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative C aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CAGATCCTGGAT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcagatcctggatAGATCGAGACCCGACGC chr16:56613118-Alternative-C;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative C aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccag AATACGCCAAGA CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAaatacgccaagaAGATCGAGACCCGACGC chr16:56613118-Alternative-C;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative T aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccag GCGGTAACGTCT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAgcggtaacgtctAGATCGAGACCCGACGC chr16:56613118-Alternative-T;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative T aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CGGCCAATCTGT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcggccaatctgtAGATCGAGACCCGACGC chr16:56613118-Alternative-T;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative C aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CATTACCGCCGA CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcattaccgccgaAGATCGAGACCCGACGC chr16:56613118-Alternative-C;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Reference A aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CACGTTCGTGCT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcacgttcgtgctAGATCGAGACCCGACGC chr16:56613118-Reference-A;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative C aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccag AACGACTCACAT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAaacgactcacatAGATCGAGACCCGACGC chr16:56613118-Alternative-C;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Reference A aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccag GTCATATGGTTC CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAgtcatatggttcAGATCGAGACCCGACGC chr16:56613118-Reference-A;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Reference A aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccag ATAGACGCTGAT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAatagacgctgatAGATCGAGACCCGACGC chr16:56613118-Reference-A;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative C aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccag GGACGGCAACTA CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgCcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAggacggcaactaAGATCGAGACCCGACGC chr16:56613118-Alternative-C;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Reference A aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CTGTTATCGTGT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAActgttatcgtgtAGATCGAGACCCGACGC chr16:56613118-Reference-A;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative T aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccag AAGTCTACGCTT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAaagtctacgcttAGATCGAGACCCGACGC chr16:56613118-Alternative-T;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative T aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccag ATTGGCCGACCA CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAattggccgaccaAGATCGAGACCCGACGC chr16:56613118-Alternative-T;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Reference A aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccag GCGGATCTCGTT CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgAcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAgcggatctcgttAGATCGAGACCCGACGC chr16:56613118-Reference-A;Patient-59 chr16:56613118-AG DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.12 4.64 1.13 MT3 10148 Alternative T aggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccag CACAATCAATCG CGACGCGGTCTCTCTCTaggatagaatatttggaattgaaaccttcttggaaaagttgggccatttgTcgacaagagatataggctaaatggaggattcccccttctctgtgcccagAGAGGGAGACGGACGTCTCAATAAcacaatcaatcgAGATCGAGACCCGACGC chr16:56613118-Alternative-T;Patient-59 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative G tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GAGATAGCCTAT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgagatagcctatAGATCGAGACCCGACGC chr16:56907384-Alternative-G;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Reference C tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GACGAAGGATAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgacgaaggataaAGATCGAGACCCGACGC chr16:56907384-Reference-C;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Variant T tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GCGATCCAACTA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgcgatccaactaAGATCGAGACCCGACGC chr16:56907384-Variant-T;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Variant T tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg CAAGATCGGCCA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAcaagatcggccaAGATCGAGACCCGACGC chr16:56907384-Variant-T;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative G tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg CTCTGAGTTAAC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAActctgagttaacAGATCGAGACCCGACGC chr16:56907384-Alternative-G;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Reference C tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GCGGTCATTGAC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgcggtcattgacAGATCGAGACCCGACGC chr16:56907384-Reference-C;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Reference C tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg AGCAACTAGTCA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAagcaactagtcaAGATCGAGACCCGACGC chr16:56907384-Reference-C;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative A tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg AGCGGTATGCCA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAagcggtatgccaAGATCGAGACCCGACGC chr16:56907384-Alternative-A;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Variant T tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg ATACTTGGTCCT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAatacttggtcctAGATCGAGACCCGACGC chr16:56907384-Variant-T;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative A tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg ATTGTTCGGCAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAattgttcggcaaAGATCGAGACCCGACGC chr16:56907384-Alternative-A;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Variant T tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GTGTTCTAACAG CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgtgttctaacagAGATCGAGACCCGACGC chr16:56907384-Variant-T;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative G tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GTTGTGATCGAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgttgtgatcgaaAGATCGAGACCCGACGC chr16:56907384-Alternative-G;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative A tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg CAGGCTCTCGAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAcaggctctcgaaAGATCGAGACCCGACGC chr16:56907384-Alternative-A;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative G tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg ATCTATAGGTCG CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAatctataggtcgAGATCGAGACCCGACGC chr16:56907384-Alternative-G;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative A tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GTGTAGTCGCAC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgtgtagtcgcacAGATCGAGACCCGACGC chr16:56907384-Alternative-A;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative A tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg CATCGATCAAGT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcAgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAcatcgatcaagtAGATCGAGACCCGACGC chr16:56907384-Alternative-A;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Reference C tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GAATGCGCGACT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgaatgcgcgactAGATCGAGACCCGACGC chr16:56907384-Reference-C;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Variant T tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg AATCATGGCGCG CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcTgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAaatcatggcgcgAGATCGAGACCCGACGC chr16:56907384-Variant-T;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Reference C tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg ACCGAGGCGATT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcCgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAaccgaggcgattAGATCGAGACCCGACGC chr16:56907384-Reference-C;Patient-88 chr16:56907384-CT DeNovo Patient-88 intronic SLC12A3 NA 0.000247 -0.26 0.49 -0.74 SLC12A3 8264 Alternative G tgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctgg GTATCACGTCCT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcaatggcatgatcttggctcactgcaacctcGgcctcccgggttcaagcgattctcctgcctcagcctcctgagtagctggAGAGGGAGACGGACGTCTCAATAAgtatcacgtcctAGATCGAGACCCGACGC chr16:56907384-Alternative-G;Patient-88 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Variant A ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GAATTGAGGCCG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAgaattgaggccgAGATCGAGACCCGACGC chr16:56984907-Variant-A;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Variant A ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GACGCCGATACT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAgacgccgatactAGATCGAGACCCGACGC chr16:56984907-Variant-A;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative C ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ATCGGTGAGTAA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAatcggtgagtaaAGATCGAGACCCGACGC chr16:56984907-Alternative-C;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Variant A ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ATTACCGTAACG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAattaccgtaacgAGATCGAGACCCGACGC chr16:56984907-Variant-A;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Variant A ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CGTTCGTATCAA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAcgttcgtatcaaAGATCGAGACCCGACGC chr16:56984907-Variant-A;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Variant A ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GCAAGAGATCTA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagAagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAgcaagagatctaAGATCGAGACCCGACGC chr16:56984907-Variant-A;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative T ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CGTTACGATCGG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAcgttacgatcggAGATCGAGACCCGACGC chr16:56984907-Alternative-T;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative C ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GGTGTTCGTCGA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAggtgttcgtcgaAGATCGAGACCCGACGC chr16:56984907-Alternative-C;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative C ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ACTCTAACGCAA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAactctaacgcaaAGATCGAGACCCGACGC chr16:56984907-Alternative-C;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative C ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ACATCTGGATGG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAacatctggatggAGATCGAGACCCGACGC chr16:56984907-Alternative-C;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative C ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GTCAACATGCCT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagCagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAgtcaacatgcctAGATCGAGACCCGACGC chr16:56984907-Alternative-C;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Reference G ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ATAGCGGAAGCG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAatagcggaagcgAGATCGAGACCCGACGC chr16:56984907-Reference-G;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative T ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GGAGACAACTAT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAggagacaactatAGATCGAGACCCGACGC chr16:56984907-Alternative-T;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Reference G ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt ACATAGCGGTAA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAacatagcggtaaAGATCGAGACCCGACGC chr16:56984907-Reference-G;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative T ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CATTGCGTGAAT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAcattgcgtgaatAGATCGAGACCCGACGC chr16:56984907-Alternative-T;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Reference G ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CAACAGAGCGAC CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAcaacagagcgacAGATCGAGACCCGACGC chr16:56984907-Reference-G;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Reference G ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GGCGTGATGACA CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAggcgtgatgacaAGATCGAGACCCGACGC chr16:56984907-Reference-G;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative T ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt GCCGAAGTATCG CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAgccgaagtatcgAGATCGAGACCCGACGC chr16:56984907-Alternative-T;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Alternative T ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CTATCACGCGAT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagTagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAActatcacgcgatAGATCGAGACCCGACGC chr16:56984907-Alternative-T;Patient-61 chr16:56984907-GA Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.14 1.06 -1.15 HERPUD1 18904 Reference G ggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgt CATCACGTCGCT CGACGCGGTCTCTCTCTggaagagcctccaagcagaaagaactgcaaggacaaaggccctggggcagGagcgggtacgtgtgtcctgtatgtgtgtgtcctgcacggtggcaggtgtAGAGGGAGACGGACGTCTCAATAAcatcacgtcgctAGATCGAGACCCGACGC chr16:56984907-Reference-G;Patient-61 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Reference G ccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc CGTTGCTAAGAA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAcgttgctaagaaAGATCGAGACCCGACGC chr16:56989953-Reference-G;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Reference G ccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GGTTGCTCGTTC CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAggttgctcgttcAGATCGAGACCCGACGC chr16:56989953-Reference-G;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Reference G ccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GATTCACCAACA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgattcaccaacaAGATCGAGACCCGACGC chr16:56989953-Reference-G;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Reference G ccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GGAGATAGTGCA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAggagatagtgcaAGATCGAGACCCGACGC chr16:56989953-Reference-G;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Variant C ccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc CGTTGACGAGCT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAcgttgacgagctAGATCGAGACCCGACGC chr16:56989953-Variant-C;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Reference G ccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GGTCTTCGCGAT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctGcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAggtcttcgcgatAGATCGAGACCCGACGC chr16:56989953-Reference-G;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Variant C ccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc ACTCCGTCGGTT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAactccgtcggttAGATCGAGACCCGACGC chr16:56989953-Variant-C;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative T ccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GTTCCAGTTCGC CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgttccagttcgcAGATCGAGACCCGACGC chr16:56989953-Alternative-T;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative A ccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc CGTCGTGCTTGT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAcgtcgtgcttgtAGATCGAGACCCGACGC chr16:56989953-Alternative-A;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative A ccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GTTACTCCGTAA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgttactccgtaaAGATCGAGACCCGACGC chr16:56989953-Alternative-A;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative T ccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GCCGTATCATAT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgccgtatcatatAGATCGAGACCCGACGC chr16:56989953-Alternative-T;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative A ccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc ACACGTTGTGCA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAacacgttgtgcaAGATCGAGACCCGACGC chr16:56989953-Alternative-A;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative T ccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GATGACTTAAGG CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgatgacttaaggAGATCGAGACCCGACGC chr16:56989953-Alternative-T;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative T ccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc CTTACGTCAGTT CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAActtacgtcagttAGATCGAGACCCGACGC chr16:56989953-Alternative-T;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Variant C ccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc CGATTGATGACG CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAcgattgatgacgAGATCGAGACCCGACGC chr16:56989953-Variant-C;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative T ccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GCGTTGTAGTGG CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctTcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgcgttgtagtggAGATCGAGACCCGACGC chr16:56989953-Alternative-T;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Variant C ccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc ACGCTCGCTATC CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAacgctcgctatcAGATCGAGACCCGACGC chr16:56989953-Variant-C;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative A ccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc AGCGTAACCAAC CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAagcgtaaccaacAGATCGAGACCCGACGC chr16:56989953-Alternative-A;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Variant C ccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc GCAGCATCGGAA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctCcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAgcagcatcggaaAGATCGAGACCCGACGC chr16:56989953-Variant-C;Patient-87 chr16:56989953-GC Inherited Patient-87 intergenic 0.000861 0.00103 0.29 7.04 0.16 CETP 5881 Alternative A ccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccacc AGGTATGAGCAA CGACGCGGTCTCTCTCTccaccacactctgctaattcacttattttttggaaagatggggtcttgctAcatggtccaagccagacttacattcctgggctcaagcgatcctcccaccAGAGGGAGACGGACGTCTCAATAAaggtatgagcaaAGATCGAGACCCGACGC chr16:56989953-Alternative-A;Patient-87 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Reference A attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag ATCAAGGCGAGA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAatcaaggcgagaAGATCGAGACCCGACGC chr16:57261740-Reference-A;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative T attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag AACACGGATGAA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAaacacggatgaaAGATCGAGACCCGACGC chr16:57261740-Alternative-T;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative T attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag ACTCAATAGTCG CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAactcaatagtcgAGATCGAGACCCGACGC chr16:57261740-Alternative-T;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Reference A attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GCATGCTCGAGT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgcatgctcgagtAGATCGAGACCCGACGC chr16:57261740-Reference-A;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Variant G attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CTTGTAACGCGC CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAActtgtaacgcgcAGATCGAGACCCGACGC chr16:57261740-Variant-G;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Variant G attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag ACTAGAATGCCT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAactagaatgcctAGATCGAGACCCGACGC chr16:57261740-Variant-G;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Reference A attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GTCCGTTAGTGG CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgtccgttagtggAGATCGAGACCCGACGC chr16:57261740-Reference-A;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative T attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CTGCTACAAGCA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAActgctacaagcaAGATCGAGACCCGACGC chr16:57261740-Alternative-T;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Variant G attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CTCAAGTGTTCT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAActcaagtgttctAGATCGAGACCCGACGC chr16:57261740-Variant-G;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative T attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag AATGTTGCGCTA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAaatgttgcgctaAGATCGAGACCCGACGC chr16:57261740-Alternative-T;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative T attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GTTCCACTGGCA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaTcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgttccactggcaAGATCGAGACCCGACGC chr16:57261740-Alternative-T;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative C attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CGCTCCGAAGAT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAcgctccgaagatAGATCGAGACCCGACGC chr16:57261740-Alternative-C;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative C attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag AATAACGGATCG CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAaataacggatcgAGATCGAGACCCGACGC chr16:57261740-Alternative-C;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Variant G attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CACGAGCTACCA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAcacgagctaccaAGATCGAGACCCGACGC chr16:57261740-Variant-G;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative C attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag AATCGGATGACA CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAaatcggatgacaAGATCGAGACCCGACGC chr16:57261740-Alternative-C;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Reference A attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GCGAAGAGTACG CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgcgaagagtacgAGATCGAGACCCGACGC chr16:57261740-Reference-A;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Reference A attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GCGTTATGGTGT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaAcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgcgttatggtgtAGATCGAGACCCGACGC chr16:57261740-Reference-A;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative C attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CTCTGGTACAAT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAActctggtacaatAGATCGAGACCCGACGC chr16:57261740-Alternative-C;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Variant G attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag CTACCAACGCGT CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaGcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAActaccaacgcgtAGATCGAGACCCGACGC chr16:57261740-Variant-G;Patient-35 chr16:57261740-AG DeNovo Patient-35 intronic RSPRY1 0.000191 4.95e-05 0.08 3.91 -0.73 RSPRY1 41498 Alternative C attgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtag GATGGCTCGTAC CGACGCGGTCTCTCTCTattgtaatgccactaaaatgaggatttttcagggacaagatggctatggaCcaggtcctatccagtggccacgctctaaggaagtagggtcatatggtagAGAGGGAGACGGACGTCTCAATAAgatggctcgtacAGATCGAGACCCGACGC chr16:57261740-Alternative-C;Patient-35 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative G tcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta CATAAGTGACGA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAcataagtgacgaAGATCGAGACCCGACGC chr16:57276911-Alternative-G;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative G tcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta GTAAGGCGGTCA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAgtaaggcggtcaAGATCGAGACCCGACGC chr16:57276911-Alternative-G;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative G tcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ATAAGTGGCAAG CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAataagtggcaagAGATCGAGACCCGACGC chr16:57276911-Alternative-G;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative G tcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta CTTAGCCATCGG CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAActtagccatcggAGATCGAGACCCGACGC chr16:57276911-Alternative-G;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Variant T tcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ATTGTTAGAGCG CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAattgttagagcgAGATCGAGACCCGACGC chr16:57276911-Variant-T;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative G tcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta AACGGTGTTAAC CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaGtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAaacggtgttaacAGATCGAGACCCGACGC chr16:57276911-Alternative-G;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Variant T tcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ATTATGGCCGAA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAattatggccgaaAGATCGAGACCCGACGC chr16:57276911-Variant-T;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative A tcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta GGACGACCAACA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAggacgaccaacaAGATCGAGACCCGACGC chr16:57276911-Alternative-A;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Variant T tcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ACTAAGATGCCT CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAactaagatgcctAGATCGAGACCCGACGC chr16:57276911-Variant-T;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Variant T tcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta CGTGGACGCTTA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAcgtggacgcttaAGATCGAGACCCGACGC chr16:57276911-Variant-T;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative A tcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ACATAAGCCAAC CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAacataagccaacAGATCGAGACCCGACGC chr16:57276911-Alternative-A;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Variant T tcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ACTATAGCGAGA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaTtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAactatagcgagaAGATCGAGACCCGACGC chr16:57276911-Variant-T;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative A tcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ATTATAGGCGTC CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAattataggcgtcAGATCGAGACCCGACGC chr16:57276911-Alternative-A;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative A tcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta AACGCGGTACAC CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAaacgcggtacacAGATCGAGACCCGACGC chr16:57276911-Alternative-A;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Alternative A tcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ACGTCTATACGA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaAtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAacgtctatacgaAGATCGAGACCCGACGC chr16:57276911-Alternative-A;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Reference C tcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta ACTCTCGCAACC CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAactctcgcaaccAGATCGAGACCCGACGC chr16:57276911-Reference-C;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Reference C tcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta GCGTTGGTATTA CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAgcgttggtattaAGATCGAGACCCGACGC chr16:57276911-Reference-C;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Reference C tcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta CGTAATCTGGTT CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAcgtaatctggttAGATCGAGACCCGACGC chr16:57276911-Reference-C;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Reference C tcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta AGCGTAACCGAT CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAagcgtaaccgatAGATCGAGACCCGACGC chr16:57276911-Reference-C;Patient-55 chr16:57276911-CT Inherited Patient-55 intergenic 0.00035 0.000513 -0.17 0.87 -2 ARL2BP 2126 Reference C tcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggtttta AACGCGCGCAAT CGACGCGGTCTCTCTCTtcctctagtccattccagctgcccccagccgacaccaactggaatagagaCtagctggccctgcccaaattacagattagtgagcaaaatggtggttttaAGAGGGAGACGGACGTCTCAATAAaacgcgcgcaatAGATCGAGACCCGACGC chr16:57276911-Reference-C;Patient-55 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative G ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CTACCATCGCGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAActaccatcgcgaAGATCGAGACCCGACGC chr16:57278682-Alternative-G;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Reference T ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac AAGTACGACTGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAaagtacgactgaAGATCGAGACCCGACGC chr16:57278682-Reference-T;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Reference T ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac GATCAATTCGCA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAgatcaattcgcaAGATCGAGACCCGACGC chr16:57278682-Reference-T;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Reference T ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac AACGCATCCATA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAaacgcatccataAGATCGAGACCCGACGC chr16:57278682-Reference-T;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Reference T ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACTTAAGGACGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAacttaaggacgaAGATCGAGACCCGACGC chr16:57278682-Reference-T;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Variant A ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACAACGGCGCAA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAacaacggcgcaaAGATCGAGACCCGACGC chr16:57278682-Variant-A;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Variant A ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACACACGCGAGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAacacacgcgagaAGATCGAGACCCGACGC chr16:57278682-Variant-A;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Reference T ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CTACGTCCGGAT CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcTccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAActacgtccggatAGATCGAGACCCGACGC chr16:57278682-Reference-T;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative G ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ATTCTGTTGCAC CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAattctgttgcacAGATCGAGACCCGACGC chr16:57278682-Alternative-G;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Variant A ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACAACCGAGATA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAacaaccgagataAGATCGAGACCCGACGC chr16:57278682-Variant-A;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative C ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac AACTAATTCGGC CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAaactaattcggcAGATCGAGACCCGACGC chr16:57278682-Alternative-C;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Variant A ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACTCGCGCTACA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAactcgcgctacaAGATCGAGACCCGACGC chr16:57278682-Variant-A;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative G ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CACGCATATAAC CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAcacgcatataacAGATCGAGACCCGACGC chr16:57278682-Alternative-G;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Variant A ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CGCTTGGTTACA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcAccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAcgcttggttacaAGATCGAGACCCGACGC chr16:57278682-Variant-A;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative G ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac GTTATACGAGCT CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAgttatacgagctAGATCGAGACCCGACGC chr16:57278682-Alternative-G;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative C ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac GGTAAGGCACGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAggtaaggcacgaAGATCGAGACCCGACGC chr16:57278682-Alternative-C;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative G ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac ACGTAGTGGAGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcGccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAacgtagtggagaAGATCGAGACCCGACGC chr16:57278682-Alternative-G;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative C ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CTAATGCGAATC CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAActaatgcgaatcAGATCGAGACCCGACGC chr16:57278682-Alternative-C;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative C ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac GGTCGTCATATA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAggtcgtcatataAGATCGAGACCCGACGC chr16:57278682-Alternative-C;Patient-87 chr16:57278682-TA Inherited Patient-87 intergenic NA 0.000513 0.69 10.99 3.19 ARL2BP 355 Alternative C ttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactac CAATACGCGCGA CGACGCGGTCTCTCTCTttgaaatcagacgtcagcatcacctggttcaagggataagggactggctcCccagcgacttggcaacttacaagcgctctttaaacacgccttaaactacAGAGGGAGACGGACGTCTCAATAAcaatacgcgcgaAGATCGAGACCCGACGC chr16:57278682-Alternative-C;Patient-87 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Variant T gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag CAGCGTTCGGAT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAcagcgttcggatAGATCGAGACCCGACGC chr16:57458110-Variant-T;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Variant T gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag CTGTGCTCTATC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAActgtgctctatcAGATCGAGACCCGACGC chr16:57458110-Variant-T;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Variant T gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AACGTGACGTGG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAaacgtgacgtggAGATCGAGACCCGACGC chr16:57458110-Variant-T;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative A gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AGTCGGCCAATC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAagtcggccaatcAGATCGAGACCCGACGC chr16:57458110-Alternative-A;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Variant T gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GTTATGTGATCG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAgttatgtgatcgAGATCGAGACCCGACGC chr16:57458110-Variant-T;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative A gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GTATTGCGTGAA CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAgtattgcgtgaaAGATCGAGACCCGACGC chr16:57458110-Alternative-A;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative G gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AACAGGTACCGC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAaacaggtaccgcAGATCGAGACCCGACGC chr16:57458110-Alternative-G;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Reference C gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GGTGTACGCAAG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAggtgtacgcaagAGATCGAGACCCGACGC chr16:57458110-Reference-C;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative A gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag CGACTTAGTACC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAcgacttagtaccAGATCGAGACCCGACGC chr16:57458110-Alternative-A;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative G gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AGCTATGATGCT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAagctatgatgctAGATCGAGACCCGACGC chr16:57458110-Alternative-G;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Variant T gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag ATAAGCGCTCAT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggTgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAataagcgctcatAGATCGAGACCCGACGC chr16:57458110-Variant-T;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative A gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AGTTACACACAG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAagttacacacagAGATCGAGACCCGACGC chr16:57458110-Alternative-A;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative A gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GTGACTAACAAG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggAgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAgtgactaacaagAGATCGAGACCCGACGC chr16:57458110-Alternative-A;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative G gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GTAGTGAGACAT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAgtagtgagacatAGATCGAGACCCGACGC chr16:57458110-Alternative-G;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Reference C gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AGGTAGACCAAT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAaggtagaccaatAGATCGAGACCCGACGC chr16:57458110-Reference-C;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Reference C gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag ATTACTGCGGAT CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAattactgcggatAGATCGAGACCCGACGC chr16:57458110-Reference-C;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Reference C gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag CGCGTCTGTATC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAcgcgtctgtatcAGATCGAGACCCGACGC chr16:57458110-Reference-C;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative G gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag GTACCTCGGTTC CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAgtacctcggttcAGATCGAGACCCGACGC chr16:57458110-Alternative-G;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Reference C gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag ACGTGGAACGCA CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggCgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAacgtggaacgcaAGATCGAGACCCGACGC chr16:57458110-Reference-C;Patient-8 chr16:57458110-CT Inherited Patient-8 intergenic 0.000118 0.000512821 -0.15 1.01 0 COQ9 23226 Alternative G gcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaag AACACCGTAACG CGACGCGGTCTCTCTCTgcttgcagtgagccgagattgcgccactgcagtccgcagtccgacctgggGgacagagcgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaagaagAGAGGGAGACGGACGTCTCAATAAaacaccgtaacgAGATCGAGACCCGACGC chr16:57458110-Alternative-G;Patient-8 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative G aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CGTAACCAGACG CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAcgtaaccagacgAGATCGAGACCCGACGC chr16:58121417-Alternative-G;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Variant T aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GCAACGCGTAGT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgcaacgcgtagtAGATCGAGACCCGACGC chr16:58121417-Variant-T;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative G aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt ACCGCATTGCGT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAaccgcattgcgtAGATCGAGACCCGACGC chr16:58121417-Alternative-G;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Variant T aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GAAGATTGCCAT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgaagattgccatAGATCGAGACCCGACGC chr16:58121417-Variant-T;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Variant T aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GTTCGAGAATCG CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgttcgagaatcgAGATCGAGACCCGACGC chr16:58121417-Variant-T;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Variant T aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GGCCGGAGAATA CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAggccggagaataAGATCGAGACCCGACGC chr16:58121417-Variant-T;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative G aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt AACTTGCCTCTT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAaacttgcctcttAGATCGAGACCCGACGC chr16:58121417-Alternative-G;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative G aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CATCCATACGTC CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAcatccatacgtcAGATCGAGACCCGACGC chr16:58121417-Alternative-G;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative G aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GTCGGCACGTTA CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaGgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgtcggcacgttaAGATCGAGACCCGACGC chr16:58121417-Alternative-G;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Variant T aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GACCGTCGGATT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaTgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgaccgtcggattAGATCGAGACCCGACGC chr16:58121417-Variant-T;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative A aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GAGAGCGAGCTA CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgagagcgagctaAGATCGAGACCCGACGC chr16:58121417-Alternative-A;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative A aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GATGATGTTCAC CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgatgatgttcacAGATCGAGACCCGACGC chr16:58121417-Alternative-A;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative A aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt ACGGCGATCAAT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAacggcgatcaatAGATCGAGACCCGACGC chr16:58121417-Alternative-A;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative A aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CGAACGTTATGG CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAcgaacgttatggAGATCGAGACCCGACGC chr16:58121417-Alternative-A;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Reference C aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt AAGGTGTTCGTC CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAaaggtgttcgtcAGATCGAGACCCGACGC chr16:58121417-Reference-C;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Reference C aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt GCGTTCCAGCTA CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAgcgttccagctaAGATCGAGACCCGACGC chr16:58121417-Reference-C;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Reference C aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CTTGCCGGTAGT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAActtgccggtagtAGATCGAGACCCGACGC chr16:58121417-Reference-C;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Alternative A aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CTGTCTTAGTGT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaAgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAActgtcttagtgtAGATCGAGACCCGACGC chr16:58121417-Alternative-A;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Reference C aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CTCTGGTCTGAC CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAActctggtctgacAGATCGAGACCCGACGC chr16:58121417-Reference-C;Patient-9 chr16:58121417-CT DeNovo Patient-9 intergenic 3.2e-05 0.000512821 -0.01 2.43 0 MMP15 62134 Reference C aacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgt CGTTAGGATCAT CGACGCGGTCTCTCTCTaacacattcactcaaatgcacaatcacacttgaacacacactcgcacacaCgcactcatacacacatgcacactcaaacacatgcacactcacaccacgtAGAGGGAGACGGACGTCTCAATAAcgttaggatcatAGATCGAGACCCGACGC chr16:58121417-Reference-C;Patient-9 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Reference C ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc ACTAGGCGATAA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAactaggcgataaAGATCGAGACCCGACGC chr16:58494277-Reference-C;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative A ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CGGAGCGAACTA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcggagcgaactaAGATCGAGACCCGACGC chr16:58494277-Alternative-A;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Reference C ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc AACCGAAGCCGA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAaaccgaagccgaAGATCGAGACCCGACGC chr16:58494277-Reference-C;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative A ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CGGTGAGGTTCA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcggtgaggttcaAGATCGAGACCCGACGC chr16:58494277-Alternative-A;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Variant T ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc GACGCGCGTATT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAgacgcgcgtattAGATCGAGACCCGACGC chr16:58494277-Variant-T;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative A ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc GGTGAGGTGACT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAggtgaggtgactAGATCGAGACCCGACGC chr16:58494277-Alternative-A;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative A ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CGTGCTGTGGAT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcgtgctgtggatAGATCGAGACCCGACGC chr16:58494277-Alternative-A;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative A ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc AGTGTTCATCGA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaAgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAagtgttcatcgaAGATCGAGACCCGACGC chr16:58494277-Alternative-A;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative G ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CAGTATCGGCAG CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcagtatcggcagAGATCGAGACCCGACGC chr16:58494277-Alternative-G;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Variant T ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc GCACGCTGATGT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAgcacgctgatgtAGATCGAGACCCGACGC chr16:58494277-Variant-T;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Variant T ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CTGCGTCGGTAA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAActgcgtcggtaaAGATCGAGACCCGACGC chr16:58494277-Variant-T;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Variant T ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc GGATGTGGATTA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAggatgtggattaAGATCGAGACCCGACGC chr16:58494277-Variant-T;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative G ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc ACGCTTCGAGGT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAacgcttcgaggtAGATCGAGACCCGACGC chr16:58494277-Alternative-G;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative G ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc ATTCGCAGCGCA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAattcgcagcgcaAGATCGAGACCCGACGC chr16:58494277-Alternative-G;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Variant T ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CTCTGAGGTGGT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaTgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAActctgaggtggtAGATCGAGACCCGACGC chr16:58494277-Variant-T;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Reference C ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc AAGACCTCTAAC CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAaagacctctaacAGATCGAGACCCGACGC chr16:58494277-Reference-C;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative G ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc ATCTATGGACGG CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAatctatggacggAGATCGAGACCCGACGC chr16:58494277-Alternative-G;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Alternative G ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CACGCCGTGAAT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaGgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcacgccgtgaatAGATCGAGACCCGACGC chr16:58494277-Alternative-G;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Reference C ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CATCGTACGCGA CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAAcatcgtacgcgaAGATCGAGACCCGACGC chr16:58494277-Reference-C;Patient-56 chr16:58494277-CT DeNovo Patient-56 intergenic NA 0.000513 -0.6 0.04 -2.9 SETD6 55105 Reference C ctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagc CTCACGCTTCCT CGACGCGGTCTCTCTCTctgcacctgggcgtgttctgttcttggttgttaattagaaactagtggcaCgaggaagccaagaccacacagaatccactgcggtgaggactggggaagcAGAGGGAGACGGACGTCTCAATAActcacgcttcctAGATCGAGACCCGACGC chr16:58494277-Reference-C;Patient-56 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Variant G aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GCGGAGCTACTA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAgcggagctactaAGATCGAGACCCGACGC chr16:58829604-Variant-G;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Variant G aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GGTTACTCTTGT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAggttactcttgtAGATCGAGACCCGACGC chr16:58829604-Variant-G;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative T aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaa AAGGCTGCGGAA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAaaggctgcggaaAGATCGAGACCCGACGC chr16:58829604-Alternative-T;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative T aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GGAGGTTAACAT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAggaggttaacatAGATCGAGACCCGACGC chr16:58829604-Alternative-T;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative T aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaa ATAGCGTACCTT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAatagcgtaccttAGATCGAGACCCGACGC chr16:58829604-Alternative-T;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative A aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GGAATACGATCA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAggaatacgatcaAGATCGAGACCCGACGC chr16:58829604-Alternative-A;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Reference C aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaa CACGACTACGGT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAcacgactacggtAGATCGAGACCCGACGC chr16:58829604-Reference-C;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative T aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GATCGAACTTGA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAgatcgaacttgaAGATCGAGACCCGACGC chr16:58829604-Alternative-T;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Reference C aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GCGGAATCAACG CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAgcggaatcaacgAGATCGAGACCCGACGC chr16:58829604-Reference-C;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative T aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaa ACGCGGTTATCG CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaTtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAacgcggttatcgAGATCGAGACCCGACGC chr16:58829604-Alternative-T;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative A aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaa CATATGCGCGAG CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAcatatgcgcgagAGATCGAGACCCGACGC chr16:58829604-Alternative-A;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative A aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaa ATCGCTGGTCGA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAatcgctggtcgaAGATCGAGACCCGACGC chr16:58829604-Alternative-A;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Reference C aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GTACCTGGATGC CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAgtacctggatgcAGATCGAGACCCGACGC chr16:58829604-Reference-C;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative A aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaa ACGTAGAACGGC CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAacgtagaacggcAGATCGAGACCCGACGC chr16:58829604-Alternative-A;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Alternative A aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaa AATCGAGACTGA CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaAtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAaatcgagactgaAGATCGAGACCCGACGC chr16:58829604-Alternative-A;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Reference C aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaa CGTCGGTTGGAT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAcgtcggttggatAGATCGAGACCCGACGC chr16:58829604-Reference-C;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Reference C aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaa GCAGTCGCGATT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaCtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAgcagtcgcgattAGATCGAGACCCGACGC chr16:58829604-Reference-C;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Variant G aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaa AACGTGAATACG CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAAaacgtgaatacgAGATCGAGACCCGACGC chr16:58829604-Variant-G;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Variant G aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaa CTAACCAGGCCT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAActaaccaggcctAGATCGAGACCCGACGC chr16:58829604-Variant-G;Patient-37 chr16:58829604-CG Inherited Patient-37 intergenic NA 0.000513 -0.5 0.09 -2.34 GOT2 61357 Variant G aaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaa CTGAGATGACTT CGACGCGGTCTCTCTCTaaggacttttgtaagtattagaaataattatatagagtatttgtcggttaGtgggtactctatgtatggtaaatacttgatttataattttaagatttaaAGAGGGAGACGGACGTCTCAATAActgagatgacttAGATCGAGACCCGACGC chr16:58829604-Variant-G;Patient-37 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Reference C tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg AGGCGGTGTAAC CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAaggcggtgtaacAGATCGAGACCCGACGC chr16:6114626-Reference-C;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative G tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg AGTAACGCCGAA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAagtaacgccgaaAGATCGAGACCCGACGC chr16:6114626-Alternative-G;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative G tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GGAACGAACCGT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAggaacgaaccgtAGATCGAGACCCGACGC chr16:6114626-Alternative-G;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative T tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GAGCCTACCTAC CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAgagcctacctacAGATCGAGACCCGACGC chr16:6114626-Alternative-T;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative T tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CTAGCGTACGCT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAActagcgtacgctAGATCGAGACCCGACGC chr16:6114626-Alternative-T;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative G tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CGTTAGATCCGA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAcgttagatccgaAGATCGAGACCCGACGC chr16:6114626-Alternative-G;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative T tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CGTTCCACTAAT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAcgttccactaatAGATCGAGACCCGACGC chr16:6114626-Alternative-T;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative T tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg ACGACCAAGTAA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAacgaccaagtaaAGATCGAGACCCGACGC chr16:6114626-Alternative-T;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Variant A tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GATGTGCTTCAA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAgatgtgcttcaaAGATCGAGACCCGACGC chr16:6114626-Variant-A;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Reference C tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GGAGTTCGTGCT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAggagttcgtgctAGATCGAGACCCGACGC chr16:6114626-Reference-C;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative T tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg AAGATCCGGCAG CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctTcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAaagatccggcagAGATCGAGACCCGACGC chr16:6114626-Alternative-T;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative G tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CTCGTCATTACA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAActcgtcattacaAGATCGAGACCCGACGC chr16:6114626-Alternative-G;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Variant A tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GTTGTTGGCGCT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAgttgttggcgctAGATCGAGACCCGACGC chr16:6114626-Variant-A;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Alternative G tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg AGCTATGGCTTA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctGcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAagctatggcttaAGATCGAGACCCGACGC chr16:6114626-Alternative-G;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Variant A tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg ACTGTGCTGGAC CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAactgtgctggacAGATCGAGACCCGACGC chr16:6114626-Variant-A;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Variant A tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GATATGCGGCCA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAgatatgcggccaAGATCGAGACCCGACGC chr16:6114626-Variant-A;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Variant A tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg GTGTTGTCTGTT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctAcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAgtgttgtctgttAGATCGAGACCCGACGC chr16:6114626-Variant-A;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Reference C tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg AGATCGCGGTGT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAagatcgcggtgtAGATCGAGACCCGACGC chr16:6114626-Reference-C;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Reference C tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CAGACGAGCGAT CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAcagacgagcgatAGATCGAGACCCGACGC chr16:6114626-Reference-C;Patient-21 chr16:6114626-CA DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.07 1.7 0.26 RBFOX1 45493 Reference C tctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctg CACTGAATACCA CGACGCGGTCTCTCTCTtctgtcaccaggctggagtgcagtggtgcgatctcggctcactgcaacctCcgcctcccgggttccagtgattctcctgcctcagcctcccaagtagctgAGAGGGAGACGGACGTCTCAATAAcactgaataccaAGATCGAGACCCGACGC chr16:6114626-Reference-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Variant C aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt ACTAAGCGCATA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAactaagcgcataAGATCGAGACCCGACGC chr16:6121871-Variant-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative T aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GCATCTTGTCAT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgcatcttgtcatAGATCGAGACCCGACGC chr16:6121871-Alternative-T;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Variant C aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt CGTCTAGGCGAA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAcgtctaggcgaaAGATCGAGACCCGACGC chr16:6121871-Variant-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Reference A aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt CAATTGCCGATT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAcaattgccgattAGATCGAGACCCGACGC chr16:6121871-Reference-A;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative T aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt ACGCCTGACAAG CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAacgcctgacaagAGATCGAGACCCGACGC chr16:6121871-Alternative-T;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative G aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GACAGTTCCACT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgacagttccactAGATCGAGACCCGACGC chr16:6121871-Alternative-G;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative G aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt AACAATGCTACG CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAaacaatgctacgAGATCGAGACCCGACGC chr16:6121871-Alternative-G;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Reference A aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt AGCGGCGTAGAT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAagcggcgtagatAGATCGAGACCCGACGC chr16:6121871-Reference-A;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Reference A aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt CATCTCATGGAA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAcatctcatggaaAGATCGAGACCCGACGC chr16:6121871-Reference-A;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative T aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt CTGAATGGATGA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAActgaatggatgaAGATCGAGACCCGACGC chr16:6121871-Alternative-T;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Variant C aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt CTAGAAGTGCGG CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAActagaagtgcggAGATCGAGACCCGACGC chr16:6121871-Variant-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Variant C aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GAGTAGAGCTAA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgagtagagctaaAGATCGAGACCCGACGC chr16:6121871-Variant-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Reference A aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GATCAGCGCGAA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgatcagcgcgaaAGATCGAGACCCGACGC chr16:6121871-Reference-A;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative T aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt ACCGTTGTAACA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAaccgttgtaacaAGATCGAGACCCGACGC chr16:6121871-Alternative-T;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Reference A aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GAATCGCTTCGG CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagAataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgaatcgcttcggAGATCGAGACCCGACGC chr16:6121871-Reference-A;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Variant C aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt ATCAATGTTGCG CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagCataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAatcaatgttgcgAGATCGAGACCCGACGC chr16:6121871-Variant-C;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative G aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GTTGTATCGTGT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgttgtatcgtgtAGATCGAGACCCGACGC chr16:6121871-Alternative-G;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative T aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt AACGCTCCATAA CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagTataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAaacgctccataaAGATCGAGACCCGACGC chr16:6121871-Alternative-T;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative G aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt GATACAACGTCC CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAgatacaacgtccAGATCGAGACCCGACGC chr16:6121871-Alternative-G;Patient-21 chr16:6121871-AC DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 -0.19 0.74 -2.26 RBFOX1 52738 Alternative G aagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttctt AACCGAACACCT CGACGCGGTCTCTCTCTaagtagaatcatgcaatgtttatccttctgtgactggcttatttcactagGataatgtcctccaggttcataaatgtacaaatgtcaggatttccttcttAGAGGGAGACGGACGTCTCAATAAaaccgaacacctAGATCGAGACCCGACGC chr16:6121871-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative G aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt CTTACACTTCCA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAActtacacttccaAGATCGAGACCCGACGC chr16:6123916-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Variant T aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GACGAGCTACGA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgacgagctacgaAGATCGAGACCCGACGC chr16:6123916-Variant-T;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative A aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt ACTTCGATCGTT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAacttcgatcgttAGATCGAGACCCGACGC chr16:6123916-Alternative-A;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative A aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt CGTAGTTCTGTT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAcgtagttctgttAGATCGAGACCCGACGC chr16:6123916-Alternative-A;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Variant T aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GCAACGGATGCA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgcaacggatgcaAGATCGAGACCCGACGC chr16:6123916-Variant-T;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Reference C aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt AACTCGTCCACT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAaactcgtccactAGATCGAGACCCGACGC chr16:6123916-Reference-C;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative A aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GGTAAGCGGAGT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAggtaagcggagtAGATCGAGACCCGACGC chr16:6123916-Alternative-A;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Variant T aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GAGTAGGAGATA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgagtaggagataAGATCGAGACCCGACGC chr16:6123916-Variant-T;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Reference C aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt CGTGCACATAAT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAcgtgcacataatAGATCGAGACCCGACGC chr16:6123916-Reference-C;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Reference C aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt AGGAACGAGTTA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAaggaacgagttaAGATCGAGACCCGACGC chr16:6123916-Reference-C;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative G aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt AGTCATGGCCGA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAagtcatggccgaAGATCGAGACCCGACGC chr16:6123916-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Reference C aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt CGTACCACGGAA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAcgtaccacggaaAGATCGAGACCCGACGC chr16:6123916-Reference-C;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Reference C aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GACGTTCACGAC CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaCagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgacgttcacgacAGATCGAGACCCGACGC chr16:6123916-Reference-C;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative G aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt AGCAACTCATAC CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAagcaactcatacAGATCGAGACCCGACGC chr16:6123916-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative G aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GTGATAGTTCCA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgtgatagttccaAGATCGAGACCCGACGC chr16:6123916-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Variant T aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt AATATGCTCCGA CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAaatatgctccgaAGATCGAGACCCGACGC chr16:6123916-Variant-T;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative A aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GTTAGACGACAT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgttagacgacatAGATCGAGACCCGACGC chr16:6123916-Alternative-A;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative G aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt CATCGGCGGATT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaGagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAcatcggcggattAGATCGAGACCCGACGC chr16:6123916-Alternative-G;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Variant T aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GACGTTCGGTGT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaTagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgacgttcggtgtAGATCGAGACCCGACGC chr16:6123916-Variant-T;Patient-21 chr16:6123916-CT DeNovo Patient-21 intronic RBFOX1 NA 4.95e-05 0.19 5.64 0.37 RBFOX1 54783 Alternative A aattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttcttttt GTATAGCGCTAT CGACGCGGTCTCTCTCTaattggtggagggcctggaggtgttacactatgggtactggcttaaggcaAagcatgatccaggagctcacatcagtgtagtgaaggttcttttctttttAGAGGGAGACGGACGTCTCAATAAgtatagcgctatAGATCGAGACCCGACGC chr16:6123916-Alternative-A;Patient-21 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Reference G ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgat GTTAGAGGCGAT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgttagaggcgatAGATCGAGACCCGACGC chr16:62035417-Reference-G;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Reference G ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgat GCGAGAGATCGT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgcgagagatcgtAGATCGAGACCCGACGC chr16:62035417-Reference-G;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Reference G ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgat GGCTCTTATTCA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAggctcttattcaAGATCGAGACCCGACGC chr16:62035417-Reference-G;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Variant A ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgat GATAAGACGTAC CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgataagacgtacAGATCGAGACCCGACGC chr16:62035417-Variant-A;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Variant A ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgat CAGCGAAGGTGT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAcagcgaaggtgtAGATCGAGACCCGACGC chr16:62035417-Variant-A;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative T ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgat GGCGTCACTTGA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAggcgtcacttgaAGATCGAGACCCGACGC chr16:62035417-Alternative-T;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Variant A ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgat GATAGGAGTACT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgataggagtactAGATCGAGACCCGACGC chr16:62035417-Variant-A;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Reference G ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgat AATCGAGCATGT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAaatcgagcatgtAGATCGAGACCCGACGC chr16:62035417-Reference-G;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Reference G ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgat CTCGTCTGTCAA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaGctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAActcgtctgtcaaAGATCGAGACCCGACGC chr16:62035417-Reference-G;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative T ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgat AGCAGCATACGG CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAagcagcatacggAGATCGAGACCCGACGC chr16:62035417-Alternative-T;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative T ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgat GCGCTGATCGTT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgcgctgatcgttAGATCGAGACCCGACGC chr16:62035417-Alternative-T;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative C ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgat ACTAATCAAGCG CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAactaatcaagcgAGATCGAGACCCGACGC chr16:62035417-Alternative-C;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative T ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgat GCGAATGCCTGA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgcgaatgcctgaAGATCGAGACCCGACGC chr16:62035417-Alternative-T;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative T ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgat AATGTGGTTGCT CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaTctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAaatgtggttgctAGATCGAGACCCGACGC chr16:62035417-Alternative-T;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Variant A ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgat AGTGCTAACGGC CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAagtgctaacggcAGATCGAGACCCGACGC chr16:62035417-Variant-A;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative C ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgat AGACGGTAACAG CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAagacggtaacagAGATCGAGACCCGACGC chr16:62035417-Alternative-C;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative C ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgat ACGTTCCGGAGA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAacgttccggagaAGATCGAGACCCGACGC chr16:62035417-Alternative-C;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Variant A ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgat GCGAACGTGTAC CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaActatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgcgaacgtgtacAGATCGAGACCCGACGC chr16:62035417-Variant-A;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative C ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgat CAAGCGTCCACA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAcaagcgtccacaAGATCGAGACCCGACGC chr16:62035417-Alternative-C;Patient-78 chr16:62035417-GA DeNovo Patient-78 intronic CDH8 9.6e-05 4.95e-05 1.55 16.04 3.97 CDH8 35321 Alternative C ttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgat GAATTACGGCTA CGACGCGGTCTCTCTCTttcttttcaggctacctcatggagacaagtagcccaaggtaaatacacaaCctatacattccacttttgactggaggcttaacttgtcagtgataatgatAGAGGGAGACGGACGTCTCAATAAgaattacggctaAGATCGAGACCCGACGC chr16:62035417-Alternative-C;Patient-78 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Reference A gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa AACGCTTGTAGA CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAaacgcttgtagaAGATCGAGACCCGACGC chr16:65178252-Reference-A;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Reference A gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GACAACACTAGA CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgacaacactagaAGATCGAGACCCGACGC chr16:65178252-Reference-A;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Reference A gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GACTAACGCGCT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgactaacgcgctAGATCGAGACCCGACGC chr16:65178252-Reference-A;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Reference A gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa AAGCGCGTCTAT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAaagcgcgtctatAGATCGAGACCCGACGC chr16:65178252-Reference-A;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative T gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GGCCAATGAGCT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAggccaatgagctAGATCGAGACCCGACGC chr16:65178252-Alternative-T;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative C gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GGTAGACAACAG CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAggtagacaacagAGATCGAGACCCGACGC chr16:65178252-Alternative-C;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Reference A gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa CACGTCGTACCT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacAtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAcacgtcgtacctAGATCGAGACCCGACGC chr16:65178252-Reference-A;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative T gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa AATGTAGTGACG CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAaatgtagtgacgAGATCGAGACCCGACGC chr16:65178252-Alternative-T;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative T gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GATTCTGGATAC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgattctggatacAGATCGAGACCCGACGC chr16:65178252-Alternative-T;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Variant G gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa AATACTACGTGC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAaatactacgtgcAGATCGAGACCCGACGC chr16:65178252-Variant-G;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative C gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa CGATCTGCGCAT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAcgatctgcgcatAGATCGAGACCCGACGC chr16:65178252-Alternative-C;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative C gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GTGTCTGTTCAT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgtgtctgttcatAGATCGAGACCCGACGC chr16:65178252-Alternative-C;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative T gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa CATCGTCGTACC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAcatcgtcgtaccAGATCGAGACCCGACGC chr16:65178252-Alternative-T;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative C gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa CATGAGTCTAGA CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAcatgagtctagaAGATCGAGACCCGACGC chr16:65178252-Alternative-C;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Variant G gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GAGTGCGAGTGT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgagtgcgagtgtAGATCGAGACCCGACGC chr16:65178252-Variant-G;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative C gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa ACACCGGCGATA CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacCtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAacaccggcgataAGATCGAGACCCGACGC chr16:65178252-Alternative-C;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Alternative T gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GACGTCGTCAGT CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacTtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgacgtcgtcagtAGATCGAGACCCGACGC chr16:65178252-Alternative-T;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Variant G gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa ATTCACGCCTAC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAattcacgcctacAGATCGAGACCCGACGC chr16:65178252-Variant-G;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Variant G gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa ATAGTTAGCGTC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAatagttagcgtcAGATCGAGACCCGACGC chr16:65178252-Variant-G;Patient-65 chr16:65178252-AG DeNovo Patient-65 intergenic NA 0.000513 0.4 8.38 1.18 CDH11 22332 Variant G gcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaa GTCTAGCACCAC CGACGCGGTCTCTCTCTgcatattgttcagccttaaaaaggaaggaaattgtgacacgtgctacaacGtggatgaaccttgaagacattatgcaaaatgaaataagctagtcactaaAGAGGGAGACGGACGTCTCAATAAgtctagcaccacAGATCGAGACCCGACGC chr16:65178252-Variant-G;Patient-65 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Reference C tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GATTCTACGGAT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAgattctacggatAGATCGAGACCCGACGC chr16:66553348-Reference-C;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Reference C tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GATTCATAACGG CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAgattcataacggAGATCGAGACCCGACGC chr16:66553348-Reference-C;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Reference C tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaa ACGATGTTCACA CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAacgatgttcacaAGATCGAGACCCGACGC chr16:66553348-Reference-C;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Reference C tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaa CGAGCTACAACT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAcgagctacaactAGATCGAGACCCGACGC chr16:66553348-Reference-C;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Reference C tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GTTGACGTCAGT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgCtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAgttgacgtcagtAGATCGAGACCCGACGC chr16:66553348-Reference-C;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative A tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GCGTACCACACT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAgcgtaccacactAGATCGAGACCCGACGC chr16:66553348-Alternative-A;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Variant G tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaa ACGATCACGCCT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAacgatcacgcctAGATCGAGACCCGACGC chr16:66553348-Variant-G;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative A tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaa AACGACGATGAG CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAaacgacgatgagAGATCGAGACCCGACGC chr16:66553348-Alternative-A;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative A tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaa AACGTGGTTGAC CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAaacgtggttgacAGATCGAGACCCGACGC chr16:66553348-Alternative-A;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Variant G tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaa CACGATGTGGAG CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAcacgatgtggagAGATCGAGACCCGACGC chr16:66553348-Variant-G;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative A tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GCGGCTTCGATA CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAgcggcttcgataAGATCGAGACCCGACGC chr16:66553348-Alternative-A;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Variant G tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaa CGCAAGTCTCGA CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAcgcaagtctcgaAGATCGAGACCCGACGC chr16:66553348-Variant-G;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Variant G tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GGCTCGATAACA CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAggctcgataacaAGATCGAGACCCGACGC chr16:66553348-Variant-G;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative T tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaa ATAGGAGTCGAT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAataggagtcgatAGATCGAGACCCGACGC chr16:66553348-Alternative-T;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative A tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaa CTTAACCACAAC CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgAtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAActtaaccacaacAGATCGAGACCCGACGC chr16:66553348-Alternative-A;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative T tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GGTTGAGAAGCG CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAggttgagaagcgAGATCGAGACCCGACGC chr16:66553348-Alternative-T;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative T tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaa AAGCGGAATCGG CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAaagcggaatcggAGATCGAGACCCGACGC chr16:66553348-Alternative-T;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Variant G tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaa GGCGATTCGCTT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgGtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAggcgattcgcttAGATCGAGACCCGACGC chr16:66553348-Variant-G;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative T tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaa ACAAGATGACCA CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAacaagatgaccaAGATCGAGACCCGACGC chr16:66553348-Alternative-T;Patient-93 chr16:66553348-CG Inherited Patient-93 intronic TK2 NA 4.19e-05 0.66 10.75 0.24 TK2 30966 Alternative T tctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaa CAACGTTGACAT CGACGCGGTCTCTCTCTtctcgaactcctgacctcaaatgatccacccgcctcggcctcccaaagtgTtgggattacaggcatgagccactgcgcccggcctactacacattttaaaAGAGGGAGACGGACGTCTCAATAAcaacgttgacatAGATCGAGACCCGACGC chr16:66553348-Alternative-T;Patient-93 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative G tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaaca ACTACGTAATCG CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAactacgtaatcgAGATCGAGACCCGACGC chr16:67522471-Alternative-G;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative G tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaaca GTGGCTTAGTCG CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAgtggcttagtcgAGATCGAGACCCGACGC chr16:67522471-Alternative-G;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Variant A tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaaca GACGCACTCACA CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAgacgcactcacaAGATCGAGACCCGACGC chr16:67522471-Variant-A;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Variant A tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaaca ACTGGCGTAATA CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAactggcgtaataAGATCGAGACCCGACGC chr16:67522471-Variant-A;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Variant A tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaaca AGTTCCGATATC CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAagttccgatatcAGATCGAGACCCGACGC chr16:67522471-Variant-A;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative G tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaaca CACGGACAGCTT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAcacggacagcttAGATCGAGACCCGACGC chr16:67522471-Alternative-G;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative G tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaaca AACAGCATTGTC CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAaacagcattgtcAGATCGAGACCCGACGC chr16:67522471-Alternative-G;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Reference T tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaaca GGTCGCACAATC CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAggtcgcacaatcAGATCGAGACCCGACGC chr16:67522471-Reference-T;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative G tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaaca GACAACTCTCGG CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaGatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAgacaactctcggAGATCGAGACCCGACGC chr16:67522471-Alternative-G;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Reference T tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaaca CGGCAGTACGAA CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAcggcagtacgaaAGATCGAGACCCGACGC chr16:67522471-Reference-T;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Variant A tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaaca CGTTAACAACGT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAcgttaacaacgtAGATCGAGACCCGACGC chr16:67522471-Variant-A;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Reference T tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaaca CGTTCAGCGGTT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAcgttcagcggttAGATCGAGACCCGACGC chr16:67522471-Reference-T;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative C tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaaca CATGAGTTCCAA CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAcatgagttccaaAGATCGAGACCCGACGC chr16:67522471-Alternative-C;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Reference T tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaaca ATTATAGGCGGT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAattataggcggtAGATCGAGACCCGACGC chr16:67522471-Reference-T;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Reference T tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaaca GGACGTCCGAAT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaTatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAggacgtccgaatAGATCGAGACCCGACGC chr16:67522471-Reference-T;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative C tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaaca ACCTTGGAACAT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAaccttggaacatAGATCGAGACCCGACGC chr16:67522471-Alternative-C;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Variant A tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaaca ACCGGATGCACA CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaAatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAaccggatgcacaAGATCGAGACCCGACGC chr16:67522471-Variant-A;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative C tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaaca ATCGACCTAGGT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAatcgacctaggtAGATCGAGACCCGACGC chr16:67522471-Alternative-C;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative C tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaaca CTAATTGACGGT CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAActaattgacggtAGATCGAGACCCGACGC chr16:67522471-Alternative-C;Patient-32 chr16:67522471-TA DeNovo Patient-32 intergenic NA 0.000513 -0.16 0.93 -1.02 CTCF 73838 Alternative C tgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaaca AGTCGAGAAGCG CGACGCGGTCTCTCTCTtgtgccactgcactccagcctgggtgacagagtaagactccatctcaaaaCatatatatatattgtattttttattggatattatgtctcaatgaaaacaAGAGGGAGACGGACGTCTCAATAAagtcgagaagcgAGATCGAGACCCGACGC chr16:67522471-Alternative-C;Patient-32 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Variant G ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttccttttt ATTGCTTACGTC CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAattgcttacgtcAGATCGAGACCCGACGC chr16:67665562-Variant-G;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative C ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GGAGTACAAGCG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAggagtacaagcgAGATCGAGACCCGACGC chr16:67665562-Alternative-C;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative C ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CGCCGGTATATC CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcgccggtatatcAGATCGAGACCCGACGC chr16:67665562-Alternative-C;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative T ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CACGGATTACGC CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcacggattacgcAGATCGAGACCCGACGC chr16:67665562-Alternative-T;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative T ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttccttttt AGTAGATGCGCG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAagtagatgcgcgAGATCGAGACCCGACGC chr16:67665562-Alternative-T;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Variant G ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GTCAGTTAGACA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgtcagttagacaAGATCGAGACCCGACGC chr16:67665562-Variant-G;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Variant G ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GAGTAGAGTGTT CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgagtagagtgttAGATCGAGACCCGACGC chr16:67665562-Variant-G;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative C ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GATTATACGGAG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgattatacggagAGATCGAGACCCGACGC chr16:67665562-Alternative-C;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Reference A ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CGTCGACGTGAT CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcgtcgacgtgatAGATCGAGACCCGACGC chr16:67665562-Reference-A;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Reference A ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CATTCGACAACA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcattcgacaacaAGATCGAGACCCGACGC chr16:67665562-Reference-A;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative T ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CAGACAACTAAG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcagacaactaagAGATCGAGACCCGACGC chr16:67665562-Alternative-T;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative T ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CTAACATAAGCG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAActaacataagcgAGATCGAGACCCGACGC chr16:67665562-Alternative-T;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Variant G ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttccttttt ACCTCCAATAAG CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAacctccaataagAGATCGAGACCCGACGC chr16:67665562-Variant-G;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Reference A ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GTACGTAATCGA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgtacgtaatcgaAGATCGAGACCCGACGC chr16:67665562-Reference-A;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Variant G ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GCGAATTGTCTA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggGtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgcgaattgtctaAGATCGAGACCCGACGC chr16:67665562-Variant-G;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative T ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CGATAGTCCATA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggTtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcgatagtccataAGATCGAGACCCGACGC chr16:67665562-Alternative-T;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative C ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttccttttt AATGAGTGGTCA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAaatgagtggtcaAGATCGAGACCCGACGC chr16:67665562-Alternative-C;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Alternative C ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CGCTAGTTGGCA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggCtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcgctagttggcaAGATCGAGACCCGACGC chr16:67665562-Alternative-C;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Reference A ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttccttttt CGACTGGAATAA CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAcgactggaataaAGATCGAGACCCGACGC chr16:67665562-Reference-A;Patient-70 chr16:67665562-AG DeNovo Patient-70 intronic CTCF NA 4.95e-05 -0.08 1.57 0.8 PARD6A 29288 Reference A ggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttccttttt GTTAGCGCACGT CGACGCGGTCTCTCTCTggttttattgtaaaactttctcatgaaagcactaagctgtttatgtttggAtctgtaacaaggtcccccccacccccccccccttttttttttcctttttAGAGGGAGACGGACGTCTCAATAAgttagcgcacgtAGATCGAGACCCGACGC chr16:67665562-Reference-A;Patient-70 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative T ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtag CGACGAACTTCG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAcgacgaacttcgAGATCGAGACCCGACGC chr16:68276393-Alternative-T;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative T ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtag ACCGGTGGCTAA CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAaccggtggctaaAGATCGAGACCCGACGC chr16:68276393-Alternative-T;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Variant A ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtag ACGTGCATGTCA CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAacgtgcatgtcaAGATCGAGACCCGACGC chr16:68276393-Variant-A;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative T ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtag GCAGTCGGCATT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAgcagtcggcattAGATCGAGACCCGACGC chr16:68276393-Alternative-T;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative T ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtag CGACGTATGCTA CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAcgacgtatgctaAGATCGAGACCCGACGC chr16:68276393-Alternative-T;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative T ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtag CAGATGCGTCGT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccTatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAcagatgcgtcgtAGATCGAGACCCGACGC chr16:68276393-Alternative-T;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Variant A ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtag GTGTCGTCACAG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAgtgtcgtcacagAGATCGAGACCCGACGC chr16:68276393-Variant-A;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Reference G ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtag GTATCTGACGGC CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAgtatctgacggcAGATCGAGACCCGACGC chr16:68276393-Reference-G;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Variant A ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtag AGACCTTAACCG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAagaccttaaccgAGATCGAGACCCGACGC chr16:68276393-Variant-A;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Reference G ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtag AGCTCGTTGACG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAagctcgttgacgAGATCGAGACCCGACGC chr16:68276393-Reference-G;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Reference G ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtag ACGATTCTGCAA CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAacgattctgcaaAGATCGAGACCCGACGC chr16:68276393-Reference-G;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Reference G ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtag AGATCAACTGAG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAagatcaactgagAGATCGAGACCCGACGC chr16:68276393-Reference-G;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Reference G ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtag CGATGTAGTGAA CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccGatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAcgatgtagtgaaAGATCGAGACCCGACGC chr16:68276393-Reference-G;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Variant A ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtag CACACGTGTACG CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAcacacgtgtacgAGATCGAGACCCGACGC chr16:68276393-Variant-A;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Variant A ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtag AGGTATCTCGGC CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccAatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAaggtatctcggcAGATCGAGACCCGACGC chr16:68276393-Variant-A;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative C ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtag GATAGGCTCTAT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAgataggctctatAGATCGAGACCCGACGC chr16:68276393-Alternative-C;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative C ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtag GAGGTGAACATC CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAgaggtgaacatcAGATCGAGACCCGACGC chr16:68276393-Alternative-C;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative C ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtag AGGCTGCGAGAT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAaggctgcgagatAGATCGAGACCCGACGC chr16:68276393-Alternative-C;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative C ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtag ACCTGACATCTT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAacctgacatcttAGATCGAGACCCGACGC chr16:68276393-Alternative-C;Patient-35 chr16:68276393-GA DeNovo Patient-35 intergenic NA 0.000513 0.86 12.32 0.15 PLA2G15 2853 Alternative C ctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtag ATACGCTGTGAT CGACGCGGTCTCTCTCTctttcttgtcacctaatgttatgccagagtcagattgcaaagtaagttccCatatataggattaaataaaacccatctaatgagaatttatggtttgtagAGAGGGAGACGGACGTCTCAATAAatacgctgtgatAGATCGAGACCCGACGC chr16:68276393-Alternative-C;Patient-35 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative G ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GGAGTACCTTAT CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAggagtaccttatAGATCGAGACCCGACGC chr16:68352165-Alternative-G;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Variant T ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc ACAGGCTCGAAC CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAacaggctcgaacAGATCGAGACCCGACGC chr16:68352165-Variant-T;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Variant T ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc AGGCTAGCGGAT CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAaggctagcggatAGATCGAGACCCGACGC chr16:68352165-Variant-T;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Variant T ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GGTTAAGTGCTT CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAggttaagtgcttAGATCGAGACCCGACGC chr16:68352165-Variant-T;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Variant T ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc ACGCACCTCTTA CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAacgcacctcttaAGATCGAGACCCGACGC chr16:68352165-Variant-T;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Variant T ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc AAGGCCGGTATC CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaTgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAaaggccggtatcAGATCGAGACCCGACGC chr16:68352165-Variant-T;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative A ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GACGGTGTAATA CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgacggtgtaataAGATCGAGACCCGACGC chr16:68352165-Alternative-A;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative G ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GTAGATCTCACG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgtagatctcacgAGATCGAGACCCGACGC chr16:68352165-Alternative-G;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative A ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GGCGAATGTACG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAggcgaatgtacgAGATCGAGACCCGACGC chr16:68352165-Alternative-A;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative A ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc AACAACGCTAAG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAaacaacgctaagAGATCGAGACCCGACGC chr16:68352165-Alternative-A;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative G ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc CGCGTAATATGA CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAcgcgtaatatgaAGATCGAGACCCGACGC chr16:68352165-Alternative-G;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative A ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc ATAGCATGACGA CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAatagcatgacgaAGATCGAGACCCGACGC chr16:68352165-Alternative-A;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Reference C ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GTATCTGTCTAC CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgtatctgtctacAGATCGAGACCCGACGC chr16:68352165-Reference-C;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative G ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc ATTATTGACCGG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAattattgaccggAGATCGAGACCCGACGC chr16:68352165-Alternative-G;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative G ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GAGTTGTTCTTC CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaGgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgagttgttcttcAGATCGAGACCCGACGC chr16:68352165-Alternative-G;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Reference C ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc CGTTGTCGTTCG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAcgttgtcgttcgAGATCGAGACCCGACGC chr16:68352165-Reference-C;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Reference C ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GTCAATCGACGC CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgtcaatcgacgcAGATCGAGACCCGACGC chr16:68352165-Reference-C;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Alternative A ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GTAAGTCATCGT CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaAgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgtaagtcatcgtAGATCGAGACCCGACGC chr16:68352165-Alternative-A;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Reference C ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc GTGTACGTCTAA CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAgtgtacgtctaaAGATCGAGACCCGACGC chr16:68352165-Reference-C;Patient-73 chr16:68352165-CT DeNovo Patient-73 intronic PRMT7 0.000164 0.000148 -0.38 0.2 -0.32 PRMT7 7287 Reference C ttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctccc CAATGGATGGAG CGACGCGGTCTCTCTCTttttttgagacagagtctcgctctgtttcccaggctaaagtgcagtggcaCgatctctgctcactgcaagctccgcctcctgggttcacgccattctcccAGAGGGAGACGGACGTCTCAATAAcaatggatggagAGATCGAGACCCGACGC chr16:68352165-Reference-C;Patient-73 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative G atggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat CTTGAACGACAG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAActtgaacgacagAGATCGAGACCCGACGC chr16:68674009-Alternative-G;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative G atggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat AGGACCTCAAGT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAaggacctcaagtAGATCGAGACCCGACGC chr16:68674009-Alternative-G;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative T atggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat ACTCGTACGCAG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAactcgtacgcagAGATCGAGACCCGACGC chr16:68674009-Alternative-T;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Reference A atggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat AGTTGACAAGCG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAagttgacaagcgAGATCGAGACCCGACGC chr16:68674009-Reference-A;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative G atggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat AATGTGCGTGTT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAaatgtgcgtgttAGATCGAGACCCGACGC chr16:68674009-Alternative-G;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Reference A atggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat AGTTCACGATCA CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAagttcacgatcaAGATCGAGACCCGACGC chr16:68674009-Reference-A;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative G atggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GCACCTAAGTCG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgcacctaagtcgAGATCGAGACCCGACGC chr16:68674009-Alternative-G;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative T atggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat ATACTATGACCG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAatactatgaccgAGATCGAGACCCGACGC chr16:68674009-Alternative-T;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Reference A atggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GATAGGTCTGGT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgataggtctggtAGATCGAGACCCGACGC chr16:68674009-Reference-A;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative T atggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat ATTGCGTTCCAT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAattgcgttccatAGATCGAGACCCGACGC chr16:68674009-Alternative-T;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Reference A atggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GTCGAACGGACA CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgtcgaacggacaAGATCGAGACCCGACGC chr16:68674009-Reference-A;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Reference A atggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat AGACGATGAACG CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatAgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAagacgatgaacgAGATCGAGACCCGACGC chr16:68674009-Reference-A;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Variant C atggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat ACGCAGTGCATT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAacgcagtgcattAGATCGAGACCCGACGC chr16:68674009-Variant-C;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative T atggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GTCCGGTTATAA CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgtccggttataaAGATCGAGACCCGACGC chr16:68674009-Alternative-T;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative T atggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat CGTACGTGGTGT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatTgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAcgtacgtggtgtAGATCGAGACCCGACGC chr16:68674009-Alternative-T;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Variant C atggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat ATCGACTATGCT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAatcgactatgctAGATCGAGACCCGACGC chr16:68674009-Variant-C;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Alternative G atggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GTACGGAACGGT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatGgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgtacggaacggtAGATCGAGACCCGACGC chr16:68674009-Alternative-G;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Variant C atggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat CGCGAACTGTTC CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAcgcgaactgttcAGATCGAGACCCGACGC chr16:68674009-Variant-C;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Variant C atggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat GTGGCTACTCGA CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAgtggctactcgaAGATCGAGACCCGACGC chr16:68674009-Variant-C;Patient-36 chr16:68674009-AC DeNovo Patient-36 intergenic NA 0.000512821 -0.13 1.14 0 CDH3 4141 Variant C atggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaat CAGCTTCGTTAT CGACGCGGTCTCTCTCTatggtaattctattttttttttcttaaggaactaccatactgttttccatCgcgactgcaccattttacattcccaccaacagcacacaaggatcctaatAGAGGGAGACGGACGTCTCAATAAcagcttcgttatAGATCGAGACCCGACGC chr16:68674009-Variant-C;Patient-36 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative C ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GTGTTGGATAAG CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAgtgttggataagAGATCGAGACCCGACGC chr16:68721137-Alternative-C;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Variant A ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt AGTGCTCGCGTT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAagtgctcgcgttAGATCGAGACCCGACGC chr16:68721137-Variant-A;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Variant A ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GTCGTCGGAGAA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAgtcgtcggagaaAGATCGAGACCCGACGC chr16:68721137-Variant-A;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Variant A ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GTCGATTGAGTT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAgtcgattgagttAGATCGAGACCCGACGC chr16:68721137-Variant-A;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Variant A ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt CATTAGGCCGCT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAcattaggccgctAGATCGAGACCCGACGC chr16:68721137-Variant-A;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Reference G ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GGCGATATAGCG CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAggcgatatagcgAGATCGAGACCCGACGC chr16:68721137-Reference-G;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Reference G ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt AACCGTCTGAAC CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAaaccgtctgaacAGATCGAGACCCGACGC chr16:68721137-Reference-G;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative C ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt ACCGTGACGTGT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAaccgtgacgtgtAGATCGAGACCCGACGC chr16:68721137-Alternative-C;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative C ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt AACGATTACGCT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAaacgattacgctAGATCGAGACCCGACGC chr16:68721137-Alternative-C;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative T ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GCAGTCATTCGG CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAgcagtcattcggAGATCGAGACCCGACGC chr16:68721137-Alternative-T;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Reference G ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt CGTGCTAATAAC CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAcgtgctaataacAGATCGAGACCCGACGC chr16:68721137-Reference-G;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Reference G ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt AAGACGCCGCAA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAaagacgccgcaaAGATCGAGACCCGACGC chr16:68721137-Reference-G;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative T ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt ACGTCGGACTGA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAacgtcggactgaAGATCGAGACCCGACGC chr16:68721137-Alternative-T;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative C ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt CATGCTAAGGTT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAcatgctaaggttAGATCGAGACCCGACGC chr16:68721137-Alternative-C;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Reference G ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt ATTCTAAGTCGC CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcGacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAattctaagtcgcAGATCGAGACCCGACGC chr16:68721137-Reference-G;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative T ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GCAGTCGTGTAC CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAgcagtcgtgtacAGATCGAGACCCGACGC chr16:68721137-Alternative-T;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative C ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GGTCATTCATCA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcCacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAggtcattcatcaAGATCGAGACCCGACGC chr16:68721137-Alternative-C;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative T ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt ACTTCGCTCGCA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAacttcgctcgcaAGATCGAGACCCGACGC chr16:68721137-Alternative-T;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Variant A ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt ACTCGCATGATA CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcAacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAactcgcatgataAGATCGAGACCCGACGC chr16:68721137-Variant-A;Patient-20 chr16:68721137-GA DeNovo Patient-20 intronic CDH3 9.6e-05 4.95e-05 -0.36 0.25 -6.77 CDH3 42985 Alternative T ggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggt GGTGCGTAGAGT CGACGCGGTCTCTCTCTggtgagaggttgcagcagggctgtgaagggaagcttccctgaagctgatcTacaaacactggagtaaccctgaagtagccggtaggtttcgccttgtggtAGAGGGAGACGGACGTCTCAATAAggtgcgtagagtAGATCGAGACCCGACGC chr16:68721137-Alternative-T;Patient-20 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative C gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcct ATTGAGTTCGCA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAattgagttcgcaAGATCGAGACCCGACGC chr16:689032-Alternative-C;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative C gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcct CAGCATAGTACT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAcagcatagtactAGATCGAGACCCGACGC chr16:689032-Alternative-C;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative T gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcct AACTTCTAGCGT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAaacttctagcgtAGATCGAGACCCGACGC chr16:689032-Alternative-T;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Reference G gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcct ATTCATAACGGC CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAattcataacggcAGATCGAGACCCGACGC chr16:689032-Reference-G;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Reference G gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcct CTCTCTCTAGCG CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAActctctctagcgAGATCGAGACCCGACGC chr16:689032-Reference-G;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Reference G gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcct CTCATAGCGCCT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAActcatagcgcctAGATCGAGACCCGACGC chr16:689032-Reference-G;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative C gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcct GCATCTACGGAT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAgcatctacggatAGATCGAGACCCGACGC chr16:689032-Alternative-C;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Variant A gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcct GTGGCAGTAGGT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAgtggcagtaggtAGATCGAGACCCGACGC chr16:689032-Variant-A;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Reference G gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcct ACGAGTATCACG CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAacgagtatcacgAGATCGAGACCCGACGC chr16:689032-Reference-G;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative C gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcct CGTGGCGTAAGA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAcgtggcgtaagaAGATCGAGACCCGACGC chr16:689032-Alternative-C;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative C gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcct GATAACGGCGGT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccCcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAgataacggcggtAGATCGAGACCCGACGC chr16:689032-Alternative-C;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative T gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcct CAATGCTCTCGG CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAcaatgctctcggAGATCGAGACCCGACGC chr16:689032-Alternative-T;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative T gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcct GGTTAAGGACCG CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAggttaaggaccgAGATCGAGACCCGACGC chr16:689032-Alternative-T;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative T gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcct ATTACGGACGTT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAattacggacgttAGATCGAGACCCGACGC chr16:689032-Alternative-T;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Alternative T gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcct GATACCGCCGTT CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccTcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAgataccgccgttAGATCGAGACCCGACGC chr16:689032-Alternative-T;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Variant A gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcct ACGTTCTGGTAA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAacgttctggtaaAGATCGAGACCCGACGC chr16:689032-Variant-A;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Reference G gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcct ACGTGGACGTTC CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccGcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAacgtggacgttcAGATCGAGACCCGACGC chr16:689032-Reference-G;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Variant A gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcct CTATGTGCTCTA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAActatgtgctctaAGATCGAGACCCGACGC chr16:689032-Variant-A;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Variant A gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcct AGAATGGACCTA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAagaatggacctaAGATCGAGACCCGACGC chr16:689032-Variant-A;Patient-22 chr16:689032-GA Inherited Patient-22 intergenic 0.000797 0.000512821 -0.49 0.09 -0.81 RHOT2 29050 Variant A gtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcct CGTATAGTGCTA CGACGCGGTCTCTCTCTgtgcatgttgcttgcctggaaatttagacaggaagactctgggccctgccAcccacccgccacagctccgttttcagccacagcatccctgacctctcctAGAGGGAGACGGACGTCTCAATAAcgtatagtgctaAGATCGAGACCCGACGC chr16:689032-Variant-A;Patient-22 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative G ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatgg ACGGCACAAGGT CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAacggcacaaggtAGATCGAGACCCGACGC chr16:69386019-Alternative-G;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Reference T ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatgg ACACCTCGGAGA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAacacctcggagaAGATCGAGACCCGACGC chr16:69386019-Reference-T;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Reference T ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatgg GGTGAACTCGTC CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAggtgaactcgtcAGATCGAGACCCGACGC chr16:69386019-Reference-T;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative G ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatgg GATAGAGGTTGT CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgatagaggttgtAGATCGAGACCCGACGC chr16:69386019-Alternative-G;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative A ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatgg AGCCGAACCAGT CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAagccgaaccagtAGATCGAGACCCGACGC chr16:69386019-Alternative-A;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative G ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatgg AGATAGAGCGTT CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAagatagagcgttAGATCGAGACCCGACGC chr16:69386019-Alternative-G;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative G ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatgg GTCCGACTGTCA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgtccgactgtcaAGATCGAGACCCGACGC chr16:69386019-Alternative-G;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative A ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatgg AGTCTCGTAACA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAagtctcgtaacaAGATCGAGACCCGACGC chr16:69386019-Alternative-A;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative G ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatgg CTAATTGACCGA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtGggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAActaattgaccgaAGATCGAGACCCGACGC chr16:69386019-Alternative-G;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Variant C ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatgg ACGTACACCACA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAacgtacaccacaAGATCGAGACCCGACGC chr16:69386019-Variant-C;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Reference T ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatgg AACGTCGGACAG CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAaacgtcggacagAGATCGAGACCCGACGC chr16:69386019-Reference-T;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Variant C ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatgg ACGACCGGTAAC CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAacgaccggtaacAGATCGAGACCCGACGC chr16:69386019-Variant-C;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Variant C ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatgg CTCATGGTTACG CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAActcatggttacgAGATCGAGACCCGACGC chr16:69386019-Variant-C;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Reference T ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatgg CAGCTTGACGAC CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAcagcttgacgacAGATCGAGACCCGACGC chr16:69386019-Reference-T;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Variant C ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatgg GCAGAACGTATC CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgcagaacgtatcAGATCGAGACCCGACGC chr16:69386019-Variant-C;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative A ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatgg GCGAATAAGAAG CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgcgaataagaagAGATCGAGACCCGACGC chr16:69386019-Alternative-A;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative A ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatgg AAGACTGACTGA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAaagactgactgaAGATCGAGACCCGACGC chr16:69386019-Alternative-A;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Variant C ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatgg GTTCGTTGTTCA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtCggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgttcgttgttcaAGATCGAGACCCGACGC chr16:69386019-Variant-C;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Alternative A ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatgg ACCTTAGTATGG CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtAggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAaccttagtatggAGATCGAGACCCGACGC chr16:69386019-Alternative-A;Patient-18 chr16:69386019-TC DeNovo Patient-18 intergenic NA 0.000512821 0.21 6.01 2.1 NIP7 12603 Reference T ggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatgg GTTCGTGGTAGA CGACGCGGTCTCTCTCTggatataatagtgggtaagtttacaacttctgaatacactgacaaaaagtTggctggggggattgttctcttacatcaaattgctcctataaacacatggAGAGGGAGACGGACGTCTCAATAAgttcgtggtagaAGATCGAGACCCGACGC chr16:69386019-Reference-T;Patient-18 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative G ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GATATGGACCTT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAgatatggaccttAGATCGAGACCCGACGC chr16:69451864-Alternative-G;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative G ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CAGACGATTAAG CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcagacgattaagAGATCGAGACCCGACGC chr16:69451864-Alternative-G;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Variant C ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg ACCTATTAGCGG CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAacctattagcggAGATCGAGACCCGACGC chr16:69451864-Variant-C;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative G ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CGAACTGGTTAT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcgaactggttatAGATCGAGACCCGACGC chr16:69451864-Alternative-G;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Variant C ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg AATCGGAGTGAT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAaatcggagtgatAGATCGAGACCCGACGC chr16:69451864-Variant-C;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Variant C ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GGTTGTTCCGGT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAggttgttccggtAGATCGAGACCCGACGC chr16:69451864-Variant-C;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Reference T ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CTAGAACACGCG CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAActagaacacgcgAGATCGAGACCCGACGC chr16:69451864-Reference-T;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative G ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CAAGCTAACGAA CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcaagctaacgaaAGATCGAGACCCGACGC chr16:69451864-Alternative-G;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative A ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GCGGCGTCTATT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAgcggcgtctattAGATCGAGACCCGACGC chr16:69451864-Alternative-A;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Reference T ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CGTATCGTCGTC CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcgtatcgtcgtcAGATCGAGACCCGACGC chr16:69451864-Reference-T;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Reference T ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CGTTAATCGCAG CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcgttaatcgcagAGATCGAGACCCGACGC chr16:69451864-Reference-T;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Reference T ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg ACCGAATCGTGG CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAaccgaatcgtggAGATCGAGACCCGACGC chr16:69451864-Reference-T;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative A ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GGCCAATAAGAT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAggccaataagatAGATCGAGACCCGACGC chr16:69451864-Alternative-A;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative A ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg AGCCGACATCGA CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAagccgacatcgaAGATCGAGACCCGACGC chr16:69451864-Alternative-A;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Reference T ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg ACTTCCTGGCGA CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaTtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAacttcctggcgaAGATCGAGACCCGACGC chr16:69451864-Reference-T;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Variant C ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg AGTCTCTTCGAT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAagtctcttcgatAGATCGAGACCCGACGC chr16:69451864-Variant-C;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Variant C ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CGTTACGTTCAT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaCtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcgttacgttcatAGATCGAGACCCGACGC chr16:69451864-Variant-C;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative G ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GCAGTGACTCGT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaGtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAgcagtgactcgtAGATCGAGACCCGACGC chr16:69451864-Alternative-G;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative A ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg GGTATTCTACGA CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAggtattctacgaAGATCGAGACCCGACGC chr16:69451864-Alternative-A;Patient-65 chr16:69451864-TC DeNovo Patient-65 intergenic NA 0.000513 0.05 3.41 -0.85 TERF2 31972 Alternative A ttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccg CGTTGGTTCGCT CGACGCGGTCTCTCTCTttggagggccacctcattgtatttcattcctggaagaggaaaagggaacaAtccttcccgctgccgcctcaaaagggtatgagaacacagggcatgcccgAGAGGGAGACGGACGTCTCAATAAcgttggttcgctAGATCGAGACCCGACGC chr16:69451864-Alternative-A;Patient-65 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative A caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GTCGAATAAGGT CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgtcgaataaggtAGATCGAGACCCGACGC chr16:69856910-Alternative-A;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Reference C caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca AGGCAAGCAACA CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAaggcaagcaacaAGATCGAGACCCGACGC chr16:69856910-Reference-C;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative G caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GCGTCGTCTAAG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgcgtcgtctaagAGATCGAGACCCGACGC chr16:69856910-Alternative-G;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Reference C caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca ACTTCGAGATAC CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAacttcgagatacAGATCGAGACCCGACGC chr16:69856910-Reference-C;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative G caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CGCGTGCAAGAA CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAcgcgtgcaagaaAGATCGAGACCCGACGC chr16:69856910-Alternative-G;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Reference C caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca ACGTTGTCCGTC CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAacgttgtccgtcAGATCGAGACCCGACGC chr16:69856910-Reference-C;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Reference C caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca AGTTGGAATGCA CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAagttggaatgcaAGATCGAGACCCGACGC chr16:69856910-Reference-C;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Reference C caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CTAATCGCGTGC CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaCgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAActaatcgcgtgcAGATCGAGACCCGACGC chr16:69856910-Reference-C;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative G caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GTAGCGCGTAGT CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgtagcgcgtagtAGATCGAGACCCGACGC chr16:69856910-Alternative-G;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Variant T caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca ATTCGTTAGTGG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAattcgttagtggAGATCGAGACCCGACGC chr16:69856910-Variant-T;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Variant T caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GAGACTGTACTT CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgagactgtacttAGATCGAGACCCGACGC chr16:69856910-Variant-T;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Variant T caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CTTATCGCTCGG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAActtatcgctcggAGATCGAGACCCGACGC chr16:69856910-Variant-T;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative A caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CTTGAATAGTCG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAActtgaatagtcgAGATCGAGACCCGACGC chr16:69856910-Alternative-A;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Variant T caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CTTATGCTTACG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAActtatgcttacgAGATCGAGACCCGACGC chr16:69856910-Variant-T;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Variant T caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GATGGTTGTGAA CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaTgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgatggttgtgaaAGATCGAGACCCGACGC chr16:69856910-Variant-T;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative G caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GGCAAGCAGTAA CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAggcaagcagtaaAGATCGAGACCCGACGC chr16:69856910-Alternative-G;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative A caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GTATCAGCTAAG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgtatcagctaagAGATCGAGACCCGACGC chr16:69856910-Alternative-A;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative G caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GTCTATCAGCTT CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaGgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgtctatcagcttAGATCGAGACCCGACGC chr16:69856910-Alternative-G;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative A caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca CGGCTTCGTAGT CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAcggcttcgtagtAGATCGAGACCCGACGC chr16:69856910-Alternative-A;Patient-56 chr16:69856910-CT DeNovo Patient-56 intronic WWP2 3.2e-05 4.95e-05 -0.22 0.62 -0.64 WWP2 60722 Alternative A caaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaaccca GAGTACAGATCG CGACGCGGTCTCTCTCTcaaagctccatctttactaaaagtacaaaaattagccaggcatggtggcaAgtaatctcagctacttgggaggctaaggcaggagaatcacttgaacccaAGAGGGAGACGGACGTCTCAATAAgagtacagatcgAGATCGAGACCCGACGC chr16:69856910-Alternative-A;Patient-56 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative T acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GACTACCGCTGT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgactaccgctgtAGATCGAGACCCGACGC chr16:71267827-Alternative-T;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative T acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GGTGACGTTGCT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAggtgacgttgctAGATCGAGACCCGACGC chr16:71267827-Alternative-T;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative T acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag AGCTCTGGTCGA CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAagctctggtcgaAGATCGAGACCCGACGC chr16:71267827-Alternative-T;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Variant G acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GACCTTGGAAGG CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgaccttggaaggAGATCGAGACCCGACGC chr16:71267827-Variant-G;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Reference A acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GGCTAACATGAA CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAggctaacatgaaAGATCGAGACCCGACGC chr16:71267827-Reference-A;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative T acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GCGAGAGCGATT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgcgagagcgattAGATCGAGACCCGACGC chr16:71267827-Alternative-T;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Reference A acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GCGAACACGCAA CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgcgaacacgcaaAGATCGAGACCCGACGC chr16:71267827-Reference-A;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Variant G acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag CTGAGGTTCTGG CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAActgaggttctggAGATCGAGACCCGACGC chr16:71267827-Variant-G;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative C acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag ACTCTAGCAAGT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAactctagcaagtAGATCGAGACCCGACGC chr16:71267827-Alternative-C;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative C acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag CAGCTGGAATAA CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAcagctggaataaAGATCGAGACCCGACGC chr16:71267827-Alternative-C;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative T acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag AACAACCTGGCG CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaTaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAaacaacctggcgAGATCGAGACCCGACGC chr16:71267827-Alternative-T;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative C acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag AGGCTACAACAT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAaggctacaacatAGATCGAGACCCGACGC chr16:71267827-Alternative-C;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Reference A acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GTACAGTGTCTA CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgtacagtgtctaAGATCGAGACCCGACGC chr16:71267827-Reference-A;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative C acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag CAAGGAGAACGG CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAcaaggagaacggAGATCGAGACCCGACGC chr16:71267827-Alternative-C;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Alternative C acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GACAGTTGCGTC CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaCaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgacagttgcgtcAGATCGAGACCCGACGC chr16:71267827-Alternative-C;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Reference A acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag ATTCACAATCGC CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAattcacaatcgcAGATCGAGACCCGACGC chr16:71267827-Reference-A;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Reference A acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GCAGCAGTTGAG CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaAaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgcagcagttgagAGATCGAGACCCGACGC chr16:71267827-Reference-A;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Variant G acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GATCGTTCAAGT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgatcgttcaagtAGATCGAGACCCGACGC chr16:71267827-Variant-G;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Variant G acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag ACGACGCAACCT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAacgacgcaacctAGATCGAGACCCGACGC chr16:71267827-Variant-G;Patient-26 chr16:71267827-AG DeNovo Patient-26 intergenic 0.000191 0.000513 0.15 5.07 1.05 HYDIN 3201 Variant G acaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcag GCGATAATTCCT CGACGCGGTCTCTCTCTacaaactgactaacatactgagggtatcgctagttacccaggggtcaagaGaaaggaaagaaccagccaaaagaaagatgtcccagtaagagaactgcagAGAGGGAGACGGACGTCTCAATAAgcgataattcctAGATCGAGACCCGACGC chr16:71267827-Variant-G;Patient-26 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative C gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactgga AGATATTCGCGC CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAagatattcgcgcAGATCGAGACCCGACGC chr16:71369197-Alternative-C;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative C gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactgga ATTACGAACGTC CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAattacgaacgtcAGATCGAGACCCGACGC chr16:71369197-Alternative-C;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative T gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactgga GATATCAGTCGC CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAgatatcagtcgcAGATCGAGACCCGACGC chr16:71369197-Alternative-T;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Reference G gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactgga AGTGATCACCAT CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAagtgatcaccatAGATCGAGACCCGACGC chr16:71369197-Reference-G;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Reference G gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactgga AACGACACGACG CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAaacgacacgacgAGATCGAGACCCGACGC chr16:71369197-Reference-G;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Reference G gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactgga ATCTGCGGCCAA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAatctgcggccaaAGATCGAGACCCGACGC chr16:71369197-Reference-G;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Variant A gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactgga AACGATACGCTT CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAaacgatacgcttAGATCGAGACCCGACGC chr16:71369197-Variant-A;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Variant A gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactgga GACAACGCTTCG CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAgacaacgcttcgAGATCGAGACCCGACGC chr16:71369197-Variant-A;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Variant A gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactgga ATCACCACAGCA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAatcaccacagcaAGATCGAGACCCGACGC chr16:71369197-Variant-A;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative T gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactgga ATCTGATGTGCA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAatctgatgtgcaAGATCGAGACCCGACGC chr16:71369197-Alternative-T;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Variant A gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactgga ATAGTACGTAGG CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAatagtacgtaggAGATCGAGACCCGACGC chr16:71369197-Variant-A;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Variant A gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactgga CGCATCTAACGC CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacAtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAcgcatctaacgcAGATCGAGACCCGACGC chr16:71369197-Variant-A;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative T gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactgga ACACTTAGCGAG CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAacacttagcgagAGATCGAGACCCGACGC chr16:71369197-Alternative-T;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative T gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactgga GTCGTTGATCTT CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAgtcgttgatcttAGATCGAGACCCGACGC chr16:71369197-Alternative-T;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative T gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactgga AACGTACGTGCA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacTtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAaacgtacgtgcaAGATCGAGACCCGACGC chr16:71369197-Alternative-T;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Reference G gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactgga ACTTGGAATTCG CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAacttggaattcgAGATCGAGACCCGACGC chr16:71369197-Reference-G;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Reference G gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactgga GGCGGAGAGATA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacGtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAggcggagagataAGATCGAGACCCGACGC chr16:71369197-Reference-G;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative C gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactgga GCCTTATACGAA CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAgccttatacgaaAGATCGAGACCCGACGC chr16:71369197-Alternative-C;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative C gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactgga ATACGCTATCGC CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAAatacgctatcgcAGATCGAGACCCGACGC chr16:71369197-Alternative-C;Patient-30 chr16:71369197-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA CMTR2 45687 Alternative C gaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactgga CTGTTCAAGTCT CGACGCGGTCTCTCTCTgaatagtataatgaacccccatgtaacctcaacaatgatcaacacattacCtccttttttctcctacacacccacccaattatcccccatgcctactggaAGAGGGAGACGGACGTCTCAATAActgttcaagtctAGATCGAGACCCGACGC chr16:71369197-Alternative-C;Patient-30 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative A gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CTAGGTCGTGCA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAActaggtcgtgcaAGATCGAGACCCGACGC chr16:71878964-Alternative-A;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative G gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa AGTAATACGGAC CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAagtaatacggacAGATCGAGACCCGACGC chr16:71878964-Alternative-G;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative A gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CTAGCCGTAACC CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAActagccgtaaccAGATCGAGACCCGACGC chr16:71878964-Alternative-A;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Reference T gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa ACGACTCTTAAG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAacgactcttaagAGATCGAGACCCGACGC chr16:71878964-Reference-T;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative A gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CGGTGAGTATGG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcggtgagtatggAGATCGAGACCCGACGC chr16:71878964-Alternative-A;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Reference T gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CGCGATATCCGA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcgcgatatccgaAGATCGAGACCCGACGC chr16:71878964-Reference-T;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative G gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa GGAACGCTTAGG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAggaacgcttaggAGATCGAGACCCGACGC chr16:71878964-Alternative-G;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative G gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa AAGTGTTCGTCA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAaagtgttcgtcaAGATCGAGACCCGACGC chr16:71878964-Alternative-G;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative A gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa GTCATGTCGATA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAgtcatgtcgataAGATCGAGACCCGACGC chr16:71878964-Alternative-A;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Reference T gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CAGACGCACTTA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcagacgcacttaAGATCGAGACCCGACGC chr16:71878964-Reference-T;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative G gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa GTAGATAATCGC CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAgtagataatcgcAGATCGAGACCCGACGC chr16:71878964-Alternative-G;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative G gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa AGTAATAGTGCG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgGaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAagtaatagtgcgAGATCGAGACCCGACGC chr16:71878964-Alternative-G;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Variant C gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa GATGACTGGTCT CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAgatgactggtctAGATCGAGACCCGACGC chr16:71878964-Variant-C;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Alternative A gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa GAATTGACCGCG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgAaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAgaattgaccgcgAGATCGAGACCCGACGC chr16:71878964-Alternative-A;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Variant C gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa AGTAGGAGCTTA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAagtaggagcttaAGATCGAGACCCGACGC chr16:71878964-Variant-C;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Variant C gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CATGTTACCGAA CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcatgttaccgaaAGATCGAGACCCGACGC chr16:71878964-Variant-C;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Reference T gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa ATCCGGATCGAG CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAatccggatcgagAGATCGAGACCCGACGC chr16:71878964-Reference-T;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Variant C gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CACAGATCGTCC CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcacagatcgtccAGATCGAGACCCGACGC chr16:71878964-Variant-C;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Variant C gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CATATGGTGACT CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgCaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcatatggtgactAGATCGAGACCCGACGC chr16:71878964-Variant-C;Patient-88 chr16:71878964-TC DeNovo Patient-88 intergenic 0.000955 0.001538462 0.11 4.42 0.05 ATXN1L 929 Reference T gttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaa CGTAATGCGCCT CGACGCGGTCTCTCTCTgttactatgaagttgaccagttaatttgtaatgaataattagttaatttgTaatgaataatatttcactgagtagtcaagccctctttccactaaaccaaAGAGGGAGACGGACGTCTCAATAAcgtaatgcgcctAGATCGAGACCCGACGC chr16:71878964-Reference-T;Patient-88 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative C ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag CGAGTATCGTCG CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAcgagtatcgtcgAGATCGAGACCCGACGC chr16:74319868-Alternative-C;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative T ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GTAGCTTAATCG CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAgtagcttaatcgAGATCGAGACCCGACGC chr16:74319868-Alternative-T;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Variant A ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag CGCACTACTCTA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAcgcactactctaAGATCGAGACCCGACGC chr16:74319868-Variant-A;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative T ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GGAGGATTCTAA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAggaggattctaaAGATCGAGACCCGACGC chr16:74319868-Alternative-T;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Reference G ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AGGTGGAACATC CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAaggtggaacatcAGATCGAGACCCGACGC chr16:74319868-Reference-G;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative T ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GTCATGAGTATC CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAgtcatgagtatcAGATCGAGACCCGACGC chr16:74319868-Alternative-T;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative C ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag CGCTTGGATACT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAcgcttggatactAGATCGAGACCCGACGC chr16:74319868-Alternative-C;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative C ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag CAGTACCTACCT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAcagtacctacctAGATCGAGACCCGACGC chr16:74319868-Alternative-C;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative T ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AAGAACGGTAAG CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAaagaacggtaagAGATCGAGACCCGACGC chr16:74319868-Alternative-T;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative C ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AGTGTTCGCGCT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAagtgttcgcgctAGATCGAGACCCGACGC chr16:74319868-Alternative-C;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Variant A ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GGACCTTATAGT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAggaccttatagtAGATCGAGACCCGACGC chr16:74319868-Variant-A;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative T ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag ACCACGCCGAAT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtTgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAaccacgccgaatAGATCGAGACCCGACGC chr16:74319868-Alternative-T;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Variant A ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AGTTACCGTCAA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAagttaccgtcaaAGATCGAGACCCGACGC chr16:74319868-Variant-A;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Variant A ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GAAGATGGCGAT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAgaagatggcgatAGATCGAGACCCGACGC chr16:74319868-Variant-A;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Variant A ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag ACGACGTGGAAC CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtAgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAacgacgtggaacAGATCGAGACCCGACGC chr16:74319868-Variant-A;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Alternative C ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GCGACGATAGGT CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtCgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAgcgacgataggtAGATCGAGACCCGACGC chr16:74319868-Alternative-C;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Reference G ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AGCAGTATAGCA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAagcagtatagcaAGATCGAGACCCGACGC chr16:74319868-Reference-G;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Reference G ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag CGATCGATCGCA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAcgatcgatcgcaAGATCGAGACCCGACGC chr16:74319868-Reference-G;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Reference G ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag GGACTCGATCTA CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAggactcgatctaAGATCGAGACCCGACGC chr16:74319868-Reference-G;Patient-69 chr16:74319868-GA DeNovo Patient-69 intergenic NA 0.000513 0.41 8.47 0.53 PSMD7 10804 Reference G ttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgag AGACTACGTGCG CGACGCGGTCTCTCTCTttgtaccatgggagcctgagaacaaacagggactggataacacagtaagtGgggaggtcctgtaggcagaagcctatccagattggaattcaggaatgagAGAGGGAGACGGACGTCTCAATAAagactacgtgcgAGATCGAGACCCGACGC chr16:74319868-Reference-G;Patient-69 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative A cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GCGAGCACAACA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgcgagcacaacaAGATCGAGACCCGACGC chr16:74338135-Alternative-A;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Reference C cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GTCGTTGTTAGA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgtcgttgttagaAGATCGAGACCCGACGC chr16:74338135-Reference-C;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative A cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GGTGGTATGACG CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAggtggtatgacgAGATCGAGACCCGACGC chr16:74338135-Alternative-A;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Reference C cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CGACTGGAACCT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcgactggaacctAGATCGAGACCCGACGC chr16:74338135-Reference-C;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative G cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt ACTCGCACAACG CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAactcgcacaacgAGATCGAGACCCGACGC chr16:74338135-Alternative-G;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Reference C cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt ATCGCAGAATGA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAatcgcagaatgaAGATCGAGACCCGACGC chr16:74338135-Reference-C;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Reference C cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GCGAGGACATAA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgcgaggacataaAGATCGAGACCCGACGC chr16:74338135-Reference-C;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative A cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt ACGACACCATGT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAacgacaccatgtAGATCGAGACCCGACGC chr16:74338135-Alternative-A;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative A cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CAGCTTACAAGG CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcagcttacaaggAGATCGAGACCCGACGC chr16:74338135-Alternative-A;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative A cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CGTAGCGAAGTC CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgAgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcgtagcgaagtcAGATCGAGACCCGACGC chr16:74338135-Alternative-A;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Reference C cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GTGCTCGAATTA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgCgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgtgctcgaattaAGATCGAGACCCGACGC chr16:74338135-Reference-C;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Variant T cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GCGCTAGTCTGT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgcgctagtctgtAGATCGAGACCCGACGC chr16:74338135-Variant-T;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Variant T cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CATCGCAGTGCA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcatcgcagtgcaAGATCGAGACCCGACGC chr16:74338135-Variant-T;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative G cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CGGCATGTCGAT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcggcatgtcgatAGATCGAGACCCGACGC chr16:74338135-Alternative-G;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative G cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt GTGCTACGATGA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAgtgctacgatgaAGATCGAGACCCGACGC chr16:74338135-Alternative-G;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Variant T cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt AGACGTAGCGGT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAagacgtagcggtAGATCGAGACCCGACGC chr16:74338135-Variant-T;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Variant T cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CGTTACACGACG CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcgttacacgacgAGATCGAGACCCGACGC chr16:74338135-Variant-T;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Variant T cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CGCCTTATAGAA CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgTgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcgccttatagaaAGATCGAGACCCGACGC chr16:74338135-Variant-T;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative G cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt CACTTCGTTGAT CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAcacttcgttgatAGATCGAGACCCGACGC chr16:74338135-Alternative-G;Patient-92 chr16:74338135-CT DeNovo Patient-92 intronic PSMD7 0.000573 0.000247451 -0.12 1.22 -0.86 PSMD7 7461 Alternative G cagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagtt AATGGATACACG CGACGCGGTCTCTCTCTcagtcatgcactcattaaatgagctgacttaaagcaaaagactcagggtgGgaaaaggaacacatgtcagttcgtttgtggaaaataaataattatagttAGAGGGAGACGGACGTCTCAATAAaatggatacacgAGATCGAGACCCGACGC chr16:74338135-Alternative-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Variant G ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc AATGGACGGTTA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAaatggacggttaAGATCGAGACCCGACGC chr16:74351970-Variant-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Variant G ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc ACTACGCTTAAG CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAactacgcttaagAGATCGAGACCCGACGC chr16:74351970-Variant-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative A ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GACGTCGCATCA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgacgtcgcatcaAGATCGAGACCCGACGC chr16:74351970-Alternative-A;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative A ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc AATAAGGCCGAA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAaataaggccgaaAGATCGAGACCCGACGC chr16:74351970-Alternative-A;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative C ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GTGATCCTAGAT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgtgatcctagatAGATCGAGACCCGACGC chr16:74351970-Alternative-C;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative A ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GCGATGGAGCTT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgcgatggagcttAGATCGAGACCCGACGC chr16:74351970-Alternative-A;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Variant G ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc CGATACTGGTAC CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAcgatactggtacAGATCGAGACCCGACGC chr16:74351970-Variant-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Variant G ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GAGTCACGTATA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgagtcacgtataAGATCGAGACCCGACGC chr16:74351970-Variant-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Reference T ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GGACAGTATCTT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAggacagtatcttAGATCGAGACCCGACGC chr16:74351970-Reference-T;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Variant G ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc CGCAAGATCCAT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatGacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAcgcaagatccatAGATCGAGACCCGACGC chr16:74351970-Variant-G;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Reference T ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GGTGATCCAATT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAggtgatccaattAGATCGAGACCCGACGC chr16:74351970-Reference-T;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative C ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc AAGCAACCTACC CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAaagcaacctaccAGATCGAGACCCGACGC chr16:74351970-Alternative-C;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Reference T ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GAATATGCGACC CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgaatatgcgaccAGATCGAGACCCGACGC chr16:74351970-Reference-T;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Reference T ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GCGCGTATACCA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgcgcgtataccaAGATCGAGACCCGACGC chr16:74351970-Reference-T;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Reference T ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GAGTTGCTTCTT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatTacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgagttgcttcttAGATCGAGACCCGACGC chr16:74351970-Reference-T;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative A ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc ACTTGGTATGGT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAacttggtatggtAGATCGAGACCCGACGC chr16:74351970-Alternative-A;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative A ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc ATCTTAGCCTAC CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatAacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAatcttagcctacAGATCGAGACCCGACGC chr16:74351970-Alternative-A;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative C ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc GCGAAGTACAAT CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAgcgaagtacaatAGATCGAGACCCGACGC chr16:74351970-Alternative-C;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative C ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc AGGCGACTTAGG CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAaggcgacttaggAGATCGAGACCCGACGC chr16:74351970-Alternative-C;Patient-92 chr16:74351970-TG Inherited Patient-92 intergenic 0.000797 0.000513 0.07 3.69 0.16 PSMD7 21296 Alternative C ctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttc AGGTGGACGAGA CGACGCGGTCTCTCTCTctatgttacccaggctagtctccccaccttagactcccaagtgctaggatCacaggtgtgagccaccgcactcagcctccacttcaagtttcaagacttcAGAGGGAGACGGACGTCTCAATAAaggtggacgagaAGATCGAGACCCGACGC chr16:74351970-Alternative-C;Patient-92 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative T tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag AACCGTATCCAA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAaaccgtatccaaAGATCGAGACCCGACGC chr16:75005768-Alternative-T;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative T tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GTCCGACGATCA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgtccgacgatcaAGATCGAGACCCGACGC chr16:75005768-Alternative-T;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative T tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag ACGGCTATAAGA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAacggctataagaAGATCGAGACCCGACGC chr16:75005768-Alternative-T;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative T tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag CTGAGTACGTCG CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAActgagtacgtcgAGATCGAGACCCGACGC chr16:75005768-Alternative-T;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative T tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag AATCTCGTACCT CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccTgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAaatctcgtacctAGATCGAGACCCGACGC chr16:75005768-Alternative-T;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Reference G tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag CTACAAGTAGCT CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAActacaagtagctAGATCGAGACCCGACGC chr16:75005768-Reference-G;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Reference G tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GGCTTGACATCG CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAggcttgacatcgAGATCGAGACCCGACGC chr16:75005768-Reference-G;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Reference G tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GTCGCTAATGAA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgtcgctaatgaaAGATCGAGACCCGACGC chr16:75005768-Reference-G;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Reference G tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GTACAGTAACGA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgtacagtaacgaAGATCGAGACCCGACGC chr16:75005768-Reference-G;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Reference G tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag CTCTAAGGCCGA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccGgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAActctaaggccgaAGATCGAGACCCGACGC chr16:75005768-Reference-G;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative C tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GATTCCGGTGCA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgattccggtgcaAGATCGAGACCCGACGC chr16:75005768-Alternative-C;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Variant A tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag ATAAGGACGTAC CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAataaggacgtacAGATCGAGACCCGACGC chr16:75005768-Variant-A;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Variant A tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GCGCTGTAACAC CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgcgctgtaacacAGATCGAGACCCGACGC chr16:75005768-Variant-A;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Variant A tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag ATCGCTTAACGA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAatcgcttaacgaAGATCGAGACCCGACGC chr16:75005768-Variant-A;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative C tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag CATTAGCTGTCA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAcattagctgtcaAGATCGAGACCCGACGC chr16:75005768-Alternative-C;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative C tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag AGTGTACGAGCG CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAagtgtacgagcgAGATCGAGACCCGACGC chr16:75005768-Alternative-C;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative C tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag CACATCACTATC CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAcacatcactatcAGATCGAGACCCGACGC chr16:75005768-Alternative-C;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Variant A tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag AACGCCAAGATA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAaacgccaagataAGATCGAGACCCGACGC chr16:75005768-Variant-A;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Variant A tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag GTCGAATCCTGG CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccAgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAgtcgaatcctggAGATCGAGACCCGACGC chr16:75005768-Variant-A;Patient-80 chr16:75005768-GA DeNovo Patient-80 intronic WDR59 9.6e-05 0.000142 -0.07 1.67 -0.74 WDR59 13248 Alternative C tgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccag ATAGACAACGCA CGACGCGGTCTCTCTCTtgcctcaggctcccaagtaactgggactacagatgcacaccaccacacccCgctaattttaaaattttgtgtagagatggggggtcgctatgtagcccagAGAGGGAGACGGACGTCTCAATAAatagacaacgcaAGATCGAGACCCGACGC chr16:75005768-Alternative-C;Patient-80 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Variant T ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ACCAACCGTGCA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaccaaccgtgcaAGATCGAGACCCGACGC chr16:75653760-Variant-T;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Variant T ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa CGGCCACCATAT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggccaccatatAGATCGAGACCCGACGC chr16:75653760-Variant-T;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative A ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GCAACAAGATAC CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcaacaagatacAGATCGAGACCCGACGC chr16:75653760-Alternative-A;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative A ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GTTATCACGCAA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttatcacgcaaAGATCGAGACCCGACGC chr16:75653760-Alternative-A;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative A ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GACTACCAAGCG CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgactaccaagcgAGATCGAGACCCGACGC chr16:75653760-Alternative-A;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Reference C ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ACCTGGTAGCCA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacctggtagccaAGATCGAGACCCGACGC chr16:75653760-Reference-C;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Reference C ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GGTATCTAAGTC CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggtatctaagtcAGATCGAGACCCGACGC chr16:75653760-Reference-C;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative A ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GGACCTAGATGG CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggacctagatggAGATCGAGACCCGACGC chr16:75653760-Alternative-A;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative A ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GGTTCCGGTCAT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactAcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggttccggtcatAGATCGAGACCCGACGC chr16:75653760-Alternative-A;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Reference C ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ATAGACCTGGAA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatagacctggaaAGATCGAGACCCGACGC chr16:75653760-Reference-C;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Reference C ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ATCGTAGTGGAA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatcgtagtggaaAGATCGAGACCCGACGC chr16:75653760-Reference-C;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Reference C ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa CGGTGAACGCTT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactCcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggtgaacgcttAGATCGAGACCCGACGC chr16:75653760-Reference-C;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Variant T ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ATTGACACGACC CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattgacacgaccAGATCGAGACCCGACGC chr16:75653760-Variant-T;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Variant T ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GATGCTATCGAT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgatgctatcgatAGATCGAGACCCGACGC chr16:75653760-Variant-T;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Variant T ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ACGTCGATAGCT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactTcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgtcgatagctAGATCGAGACCCGACGC chr16:75653760-Variant-T;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative G ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GCGACATTGTCG CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcgacattgtcgAGATCGAGACCCGACGC chr16:75653760-Alternative-G;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative G ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa CTGTGCGTAATT CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActgtgcgtaattAGATCGAGACCCGACGC chr16:75653760-Alternative-G;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative G ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa GAGTAGTCATAC CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgagtagtcatacAGATCGAGACCCGACGC chr16:75653760-Alternative-G;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative G ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa CGACGGCATGAA CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgacggcatgaaAGATCGAGACCCGACGC chr16:75653760-Alternative-G;Patient-81 chr16:75653760-CT DeNovo Patient-81 intronic ADAT1 0.000591 9.9e-05 0.05 3.35 0.24 ADAT1 3460 Alternative G ccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaa ACCTCCAACGTC CGACGCGGTCTCTCTCTccaggaaggggaggttgcagagcagtgaatcgagattgccccattgcactGcagcctgggtgacagagcgagactccgagtcaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacctccaacgtcAGATCGAGACCCGACGC chr16:75653760-Alternative-G;Patient-81 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative C tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac AGAGCATACCTT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAagagcataccttAGATCGAGACCCGACGC chr16:78208326-Alternative-C;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative C tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GCATGTAGGTGG CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgcatgtaggtggAGATCGAGACCCGACGC chr16:78208326-Alternative-C;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative C tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CTCAATCGATCG CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAActcaatcgatcgAGATCGAGACCCGACGC chr16:78208326-Alternative-C;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative C tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GTACCGATACGA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgtaccgatacgaAGATCGAGACCCGACGC chr16:78208326-Alternative-C;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative C tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GTTGGATATGAG CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagCtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgttggatatgagAGATCGAGACCCGACGC chr16:78208326-Alternative-C;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Reference A tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac AGCGTCAGGTTC CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAagcgtcaggttcAGATCGAGACCCGACGC chr16:78208326-Reference-A;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Reference A tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac ACCATTACGAAC CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAaccattacgaacAGATCGAGACCCGACGC chr16:78208326-Reference-A;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative G tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac ACGTCGCTGTGA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAacgtcgctgtgaAGATCGAGACCCGACGC chr16:78208326-Alternative-G;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Variant T tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac AGGCAGTAACGA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAaggcagtaacgaAGATCGAGACCCGACGC chr16:78208326-Variant-T;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Reference A tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac AGGAATACGTCA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAaggaatacgtcaAGATCGAGACCCGACGC chr16:78208326-Reference-A;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Variant T tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GCGCGAGATCAT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgcgcgagatcatAGATCGAGACCCGACGC chr16:78208326-Variant-T;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Reference A tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CTCGTACCTCGA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAActcgtacctcgaAGATCGAGACCCGACGC chr16:78208326-Reference-A;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Reference A tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CGATCCTCATCA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagAtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAcgatcctcatcaAGATCGAGACCCGACGC chr16:78208326-Reference-A;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative G tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CACTTCTATGCT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAcacttctatgctAGATCGAGACCCGACGC chr16:78208326-Alternative-G;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Variant T tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GTCAAGATACGT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgtcaagatacgtAGATCGAGACCCGACGC chr16:78208326-Variant-T;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative G tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CATAGTAGTGCT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAcatagtagtgctAGATCGAGACCCGACGC chr16:78208326-Alternative-G;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative G tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CGTGTTCCTATA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAcgtgttcctataAGATCGAGACCCGACGC chr16:78208326-Alternative-G;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Variant T tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac AGATAGCAGTGT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAagatagcagtgtAGATCGAGACCCGACGC chr16:78208326-Variant-T;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Alternative G tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac CTATGACGAGAA CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagGtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAActatgacgagaaAGATCGAGACCCGACGC chr16:78208326-Alternative-G;Patient-25 chr16:78208326-AT Inherited Patient-25 intronic WWOX NA 4.95e-05 -0.5 0.09 -0.45 WWOX 74998 Variant T tcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagac GATGTTGATGCT CGACGCGGTCTCTCTCTtcaattacctccccccgggtccctcccacaacatgtgggaatcctgggagTtataattcaagttgagatttcggtggggcgcagccaaaccatatcagacAGAGGGAGACGGACGTCTCAATAAgatgttgatgctAGATCGAGACCCGACGC chr16:78208326-Variant-T;Patient-25 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Variant A attaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggc GTCGACGACGAA CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgtcgacgacgaaAGATCGAGACCCGACGC chr16:80493868-Variant-A;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative C attaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggc GATTGTTCCGAT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgattgttccgatAGATCGAGACCCGACGC chr16:80493868-Alternative-C;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative T attaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggc ACCATGAATCCT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAaccatgaatcctAGATCGAGACCCGACGC chr16:80493868-Alternative-T;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative C attaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggc GCATGGTTCGCA CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgcatggttcgcaAGATCGAGACCCGACGC chr16:80493868-Alternative-C;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Variant A attaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggc ACGTTCACGATA CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAacgttcacgataAGATCGAGACCCGACGC chr16:80493868-Variant-A;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Variant A attaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggc CATTCGTTACGT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAcattcgttacgtAGATCGAGACCCGACGC chr16:80493868-Variant-A;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative T attaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggc GGCGCACTGTTA CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAggcgcactgttaAGATCGAGACCCGACGC chr16:80493868-Alternative-T;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Reference G attaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggc GTCGCTAATATC CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgtcgctaatatcAGATCGAGACCCGACGC chr16:80493868-Reference-G;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Reference G attaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggc CTCTCGACCAAT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAActctcgaccaatAGATCGAGACCCGACGC chr16:80493868-Reference-G;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative C attaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggc GGCGGTTGTATC CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAggcggttgtatcAGATCGAGACCCGACGC chr16:80493868-Alternative-C;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Reference G attaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggc ACGACTGAACCG CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAacgactgaaccgAGATCGAGACCCGACGC chr16:80493868-Reference-G;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Variant A attaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggc GACCAACTATGT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgaccaactatgtAGATCGAGACCCGACGC chr16:80493868-Variant-A;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Variant A attaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggc CATTAAGGCCGG CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagAttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAcattaaggccggAGATCGAGACCCGACGC chr16:80493868-Variant-A;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative C attaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggc ACGATCTACGAT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAacgatctacgatAGATCGAGACCCGACGC chr16:80493868-Alternative-C;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative T attaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggc GCGGTGACTAGT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgcggtgactagtAGATCGAGACCCGACGC chr16:80493868-Alternative-T;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative C attaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggc AGGAAGACGGCA CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagCttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAaggaagacggcaAGATCGAGACCCGACGC chr16:80493868-Alternative-C;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative T attaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggc GCAGGTTCGCAT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgcaggttcgcatAGATCGAGACCCGACGC chr16:80493868-Alternative-T;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Alternative T attaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggc ATACTAAGGACG CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagTttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAatactaaggacgAGATCGAGACCCGACGC chr16:80493868-Alternative-T;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Reference G attaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggc ATCGCATCCAAC CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAatcgcatccaacAGATCGAGACCCGACGC chr16:80493868-Reference-G;Patient-89 chr16:80493868-GA Inherited Patient-89 intergenic NA 0.000513 -0.41 0.17 -7.27 DYNLRB2 80985 Reference G attaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggc GACGCGTGTAAT CGACGCGGTCTCTCTCTattaaaagtataagcaattcctccatgtttgtattactccttctttgaagGttttcctgctgttccccatctctgagcactatgacccccaactcagggcAGAGGGAGACGGACGTCTCAATAAgacgcgtgtaatAGATCGAGACCCGACGC chr16:80493868-Reference-G;Patient-89 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Reference A ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GGACTCATGTAA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAggactcatgtaaAGATCGAGACCCGACGC chr16:81068749-Reference-A;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Reference A ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GTCGAGGACTTC CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAgtcgaggacttcAGATCGAGACCCGACGC chr16:81068749-Reference-A;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative C ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GGATCGCAACCT CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAggatcgcaacctAGATCGAGACCCGACGC chr16:81068749-Alternative-C;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Variant G ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GACCGTGTACGT CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAgaccgtgtacgtAGATCGAGACCCGACGC chr16:81068749-Variant-G;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Reference A ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt CGTACCTACGCT CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAcgtacctacgctAGATCGAGACCCGACGC chr16:81068749-Reference-A;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Reference A ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt AGCTTGGATGTT CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAagcttggatgttAGATCGAGACCCGACGC chr16:81068749-Reference-A;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative C ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GGTCGGTATTGA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAggtcggtattgaAGATCGAGACCCGACGC chr16:81068749-Alternative-C;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Reference A ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GTATACATGGAG CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctAtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAgtatacatggagAGATCGAGACCCGACGC chr16:81068749-Reference-A;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative C ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt ACGAACGGTGAA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAacgaacggtgaaAGATCGAGACCCGACGC chr16:81068749-Alternative-C;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Variant G ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt AATGATGCTGAG CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAaatgatgctgagAGATCGAGACCCGACGC chr16:81068749-Variant-G;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative T ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt AGCATGACCATC CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAagcatgaccatcAGATCGAGACCCGACGC chr16:81068749-Alternative-T;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Variant G ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt AATACAACAGCG CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAaatacaacagcgAGATCGAGACCCGACGC chr16:81068749-Variant-G;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Variant G ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt CTCAACAAGCCA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAActcaacaagccaAGATCGAGACCCGACGC chr16:81068749-Variant-G;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative T ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt ACGTGGTGGCTT CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAacgtggtggcttAGATCGAGACCCGACGC chr16:81068749-Alternative-T;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative T ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt GATGCAATCAAG CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAgatgcaatcaagAGATCGAGACCCGACGC chr16:81068749-Alternative-T;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative C ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt AGCATAAGGAGA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAagcataaggagaAGATCGAGACCCGACGC chr16:81068749-Alternative-C;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative T ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt ATTGCGCCGTCA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAattgcgccgtcaAGATCGAGACCCGACGC chr16:81068749-Alternative-T;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Variant G ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt CGATCTGTACGC CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctGtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAcgatctgtacgcAGATCGAGACCCGACGC chr16:81068749-Variant-G;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative T ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt ATTCCGCTCCAA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctTtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAattccgctccaaAGATCGAGACCCGACGC chr16:81068749-Alternative-T;Patient-36 chr16:81068749-AG DeNovo Patient-36 intergenic 0.000255 0.001025641 0.33 7.54 -1.79 ATMIN 708 Alternative C ccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgt ACGCTGCGGTTA CGACGCGGTCTCTCTCTccaatttcactgcagtcctcacccctcccttttgtctaccccagcctcctCtgtccatttacatgaactacccagtctaagtattaagttttgtaatcgtAGAGGGAGACGGACGTCTCAATAAacgctgcggttaAGATCGAGACCCGACGC chr16:81068749-Alternative-C;Patient-36 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Variant G ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag CGAAGGTTGCCT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAcgaaggttgcctAGATCGAGACCCGACGC chr16:81113326-Variant-G;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Variant G ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AGTTCGCAAGAT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAagttcgcaagatAGATCGAGACCCGACGC chr16:81113326-Variant-G;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative T ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag GCGCGTGTAGAA CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAgcgcgtgtagaaAGATCGAGACCCGACGC chr16:81113326-Alternative-T;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Variant G ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AGTTAGCGGTAC CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAagttagcggtacAGATCGAGACCCGACGC chr16:81113326-Variant-G;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative T ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AGCGCGCTTGTT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAagcgcgcttgttAGATCGAGACCCGACGC chr16:81113326-Alternative-T;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Variant G ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag ACTACGCGTATA CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAactacgcgtataAGATCGAGACCCGACGC chr16:81113326-Variant-G;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Variant G ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AAGGTTGAGGTT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcGagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAaaggttgaggttAGATCGAGACCCGACGC chr16:81113326-Variant-G;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative A ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag CGAGTTGGACAG CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAcgagttggacagAGATCGAGACCCGACGC chr16:81113326-Alternative-A;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative A ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AGAATCGAGTGG CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAagaatcgagtggAGATCGAGACCCGACGC chr16:81113326-Alternative-A;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative T ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag ACTCTCTCGATT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAactctctcgattAGATCGAGACCCGACGC chr16:81113326-Alternative-T;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Reference C ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag CTGCTTCACGGT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAActgcttcacggtAGATCGAGACCCGACGC chr16:81113326-Reference-C;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative T ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag ACTTCTGAACAG CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAacttctgaacagAGATCGAGACCCGACGC chr16:81113326-Alternative-T;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative A ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag GATATCGACAAC CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAgatatcgacaacAGATCGAGACCCGACGC chr16:81113326-Alternative-A;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative A ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag CGACAGCAACAT CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAcgacagcaacatAGATCGAGACCCGACGC chr16:81113326-Alternative-A;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative T ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag GTAATCACGGAA CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcTagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAgtaatcacggaaAGATCGAGACCCGACGC chr16:81113326-Alternative-T;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Reference C ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag ACACGCGTTATC CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAacacgcgttatcAGATCGAGACCCGACGC chr16:81113326-Reference-C;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Alternative A ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag CGGTGGTATGAG CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcAagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAcggtggtatgagAGATCGAGACCCGACGC chr16:81113326-Alternative-A;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Reference C ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag GGTTGGTGGACA CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAggttggtggacaAGATCGAGACCCGACGC chr16:81113326-Reference-C;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Reference C ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag AACGCGTTCGCA CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAaacgcgttcgcaAGATCGAGACCCGACGC chr16:81113326-Reference-C;Patient-25 chr16:81113326-CG Inherited Patient-25 intergenic 0.00014 0.00154 0.06 3.65 0 GCSH 16653 Reference C ttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaag GGTTCAACGTGC CGACGCGGTCTCTCTCTttgcagtgagccgagatcgcgccactgcactccagcctgggcgacagagcCagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaagaaaaagaaaagAGAGGGAGACGGACGTCTCAATAAggttcaacgtgcAGATCGAGACCCGACGC chr16:81113326-Reference-C;Patient-25 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative G ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CGGTCGATGTTC CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAcggtcgatgttcAGATCGAGACCCGACGC chr16:81496871-Alternative-G;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative G ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AGAAGTTGGTCA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAagaagttggtcaAGATCGAGACCCGACGC chr16:81496871-Alternative-G;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative T ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GCGACGTATCGT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAgcgacgtatcgtAGATCGAGACCCGACGC chr16:81496871-Alternative-T;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative G ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GGTGTAAGGCGT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAggtgtaaggcgtAGATCGAGACCCGACGC chr16:81496871-Alternative-G;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative T ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AGGTACTAACAG CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAaggtactaacagAGATCGAGACCCGACGC chr16:81496871-Alternative-T;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative G ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CGAATAGCGTGT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAcgaatagcgtgtAGATCGAGACCCGACGC chr16:81496871-Alternative-G;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative T ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CGGTGGTGTATC CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAcggtggtgtatcAGATCGAGACCCGACGC chr16:81496871-Alternative-T;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative T ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AAGCGGTTCGCT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAaagcggttcgctAGATCGAGACCCGACGC chr16:81496871-Alternative-T;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative G ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GTCTAGTGGTTA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcGccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAgtctagtggttaAGATCGAGACCCGACGC chr16:81496871-Alternative-G;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Reference C ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag ATAGCTGGTAGA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAatagctggtagaAGATCGAGACCCGACGC chr16:81496871-Reference-C;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Variant A ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GATCGTAGGTGG CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAgatcgtaggtggAGATCGAGACCCGACGC chr16:81496871-Variant-A;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Variant A ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CGTCGTTGGTCT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAcgtcgttggtctAGATCGAGACCCGACGC chr16:81496871-Variant-A;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Alternative T ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AAGATCCGCCGT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcTccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAaagatccgccgtAGATCGAGACCCGACGC chr16:81496871-Alternative-T;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Variant A ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CTTGAACCTGAA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAActtgaacctgaaAGATCGAGACCCGACGC chr16:81496871-Variant-A;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Variant A ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GATCGTCTGTTA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAgatcgtctgttaAGATCGAGACCCGACGC chr16:81496871-Variant-A;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Reference C ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AATATGTGCCGT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAaatatgtgccgtAGATCGAGACCCGACGC chr16:81496871-Reference-C;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Reference C ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GTACCAAGAGAT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAgtaccaagagatAGATCGAGACCCGACGC chr16:81496871-Reference-C;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Reference C ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag CGACATTGGATT CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAcgacattggattAGATCGAGACCCGACGC chr16:81496871-Reference-C;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Variant A ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag GGCTCCATACAG CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcAccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAggctccatacagAGATCGAGACCCGACGC chr16:81496871-Variant-A;Patient-62 chr16:81496871-CA DeNovo Patient-62 intronic CMIP NA 4.95e-05 -0.36 0.25 -3.94 CMIP 18095 Reference C ccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagag AACGTCCGGCTA CGACGCGGTCTCTCTCTccaataaacaagtttcctcattgtctttgtttctccccaggttggctggcCccgatctttagccacaccctagagcaaaacgtcacttaaatgactagagAGAGGGAGACGGACGTCTCAATAAaacgtccggctaAGATCGAGACCCGACGC chr16:81496871-Reference-C;Patient-62 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Reference G tacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgatt ACTTGGTCTAGA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAacttggtctagaAGATCGAGACCCGACGC chr16:82055593-Reference-G;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Reference G tacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgatt CGGACGCAATCA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcggacgcaatcaAGATCGAGACCCGACGC chr16:82055593-Reference-G;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Variant T tacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgatt GTCCGTTACGTC CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAgtccgttacgtcAGATCGAGACCCGACGC chr16:82055593-Variant-T;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative A tacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgatt ACTGGTTCCGGT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAactggttccggtAGATCGAGACCCGACGC chr16:82055593-Alternative-A;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Reference G tacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgatt CGAATCGTCCGA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcgaatcgtccgaAGATCGAGACCCGACGC chr16:82055593-Reference-G;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Variant T tacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgatt CACGAATTCTGA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcacgaattctgaAGATCGAGACCCGACGC chr16:82055593-Variant-T;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Reference G tacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgatt CGCCGCACTTAA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcgccgcacttaaAGATCGAGACCCGACGC chr16:82055593-Reference-G;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Variant T tacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgatt ATTGTACGCATC CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAattgtacgcatcAGATCGAGACCCGACGC chr16:82055593-Variant-T;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Variant T tacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgatt CGTCGCCACTAT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcgtcgccactatAGATCGAGACCCGACGC chr16:82055593-Variant-T;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Variant T tacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgatt AGCAAGTCGCAC CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaTaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAagcaagtcgcacAGATCGAGACCCGACGC chr16:82055593-Variant-T;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Reference G tacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgatt CAGCAGTAAGCG CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaGaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcagcagtaagcgAGATCGAGACCCGACGC chr16:82055593-Reference-G;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative A tacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgatt CGCCAGTTATGG CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcgccagttatggAGATCGAGACCCGACGC chr16:82055593-Alternative-A;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative A tacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgatt GCGTTGGACGAT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAgcgttggacgatAGATCGAGACCCGACGC chr16:82055593-Alternative-A;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative A tacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgatt GGAGATAGCCAA CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAggagatagccaaAGATCGAGACCCGACGC chr16:82055593-Alternative-A;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative A tacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgatt ACTCATGTCGAG CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaAaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAactcatgtcgagAGATCGAGACCCGACGC chr16:82055593-Alternative-A;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative C tacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgatt ATCTCACGGTGG CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAatctcacggtggAGATCGAGACCCGACGC chr16:82055593-Alternative-C;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative C tacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgatt GACGCGTTGGAT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAgacgcgttggatAGATCGAGACCCGACGC chr16:82055593-Alternative-C;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative C tacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgatt ACTGCGTTAGAT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAactgcgttagatAGATCGAGACCCGACGC chr16:82055593-Alternative-C;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative C tacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgatt CAACCTTATGAG CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAcaaccttatgagAGATCGAGACCCGACGC chr16:82055593-Alternative-C;Patient-32 chr16:82055593-GT DeNovo Patient-32 intergenic 3.2e-05 0.000513 -0.06 1.82 1.27 SDR42E1 10499 Alternative C tacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgatt GGTATGAGCGGT CGACGCGGTCTCTCTCTtacatttttttttgttcttatatccacagttctattttacttccttcacaCaattttattcactataatatattttacacttgaatgtttcttattgattAGAGGGAGACGGACGTCTCAATAAggtatgagcggtAGATCGAGACCCGACGC chr16:82055593-Alternative-C;Patient-32 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative C gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaa CGCGGCGAATAT CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAcgcggcgaatatAGATCGAGACCCGACGC chr16:82082703-Alternative-C;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative C gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaa ACAAGCGCACAC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAacaagcgcacacAGATCGAGACCCGACGC chr16:82082703-Alternative-C;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative C gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GCGATCCTACAC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgcgatcctacacAGATCGAGACCCGACGC chr16:82082703-Alternative-C;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative C gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaa CAAGTACCACAG CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAcaagtaccacagAGATCGAGACCCGACGC chr16:82082703-Alternative-C;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative C gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaa ACAGACGATAAC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaCcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAacagacgataacAGATCGAGACCCGACGC chr16:82082703-Alternative-C;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Variant A gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AGCTCAAGCCTT CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAagctcaagccttAGATCGAGACCCGACGC chr16:82082703-Variant-A;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Variant A gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GACGGAATTGCG CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgacggaattgcgAGATCGAGACCCGACGC chr16:82082703-Variant-A;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Reference T gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GATTCTAAGCGT CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgattctaagcgtAGATCGAGACCCGACGC chr16:82082703-Reference-T;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Reference T gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaa CACTATTCGCGC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAcactattcgcgcAGATCGAGACCCGACGC chr16:82082703-Reference-T;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Variant A gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GACCGGATAATA CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgaccggataataAGATCGAGACCCGACGC chr16:82082703-Variant-A;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Variant A gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaa CAGACAAGCGTT CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAcagacaagcgttAGATCGAGACCCGACGC chr16:82082703-Variant-A;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative G gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AGTAACGGTGCG CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAagtaacggtgcgAGATCGAGACCCGACGC chr16:82082703-Alternative-G;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Variant A gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AGTACGACGCAG CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaAcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAagtacgacgcagAGATCGAGACCCGACGC chr16:82082703-Variant-A;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative G gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaa ACATGTGGAGCG CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAacatgtggagcgAGATCGAGACCCGACGC chr16:82082703-Alternative-G;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative G gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AAGTTGTTCGCT CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAaagttgttcgctAGATCGAGACCCGACGC chr16:82082703-Alternative-G;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Reference T gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaa ATACCAACCTGA CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAataccaacctgaAGATCGAGACCCGACGC chr16:82082703-Reference-T;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative G gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GTGATCAGGCCA CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgtgatcaggccaAGATCGAGACCCGACGC chr16:82082703-Alternative-G;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Reference T gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaa GCACGAACTAAC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAgcacgaactaacAGATCGAGACCCGACGC chr16:82082703-Reference-T;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Reference T gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AAGGACGCGCAA CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaTcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAaaggacgcgcaaAGATCGAGACCCGACGC chr16:82082703-Reference-T;Patient-91 chr16:82082703-TA Inherited Patient-91 intronic HSD17B2 9.6e-05 4.95e-05 0.06 3.61 0.8 HSD17B2 13844 Alternative G gtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaa AAGTACCACATC CGACGCGGTCTCTCTCTgtttctgttcaattacatctctcctgtttatgaccctttcatattctttaGcagcattctctgtgactatttatttaatatactcttccctctcaagcaaAGAGGGAGACGGACGTCTCAATAAaagtaccacatcAGATCGAGACCCGACGC chr16:82082703-Alternative-G;Patient-91 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative G tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AGACGAGCTCGA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAagacgagctcgaAGATCGAGACCCGACGC chr16:82129217-Alternative-G;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Reference T tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct GACCGCCTTACA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAgaccgccttacaAGATCGAGACCCGACGC chr16:82129217-Reference-T;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Variant C tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CGTGCGTTGTCA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcgtgcgttgtcaAGATCGAGACCCGACGC chr16:82129217-Variant-C;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative G tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AACGACTACAAG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAaacgactacaagAGATCGAGACCCGACGC chr16:82129217-Alternative-G;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative A tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct ATCGTCGCTAGG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAatcgtcgctaggAGATCGAGACCCGACGC chr16:82129217-Alternative-A;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Reference T tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CTCGCTGCAACT CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAActcgctgcaactAGATCGAGACCCGACGC chr16:82129217-Reference-T;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative G tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct GCGATCTTCTGG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAgcgatcttctggAGATCGAGACCCGACGC chr16:82129217-Alternative-G;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative G tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CGGCTCCATAAG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcggctccataagAGATCGAGACCCGACGC chr16:82129217-Alternative-G;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative A tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CAACTCGGTGAA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcaactcggtgaaAGATCGAGACCCGACGC chr16:82129217-Alternative-A;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Variant C tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AACGTATCCGAT CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAaacgtatccgatAGATCGAGACCCGACGC chr16:82129217-Variant-C;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Reference T tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CAACTAGTATCG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcaactagtatcgAGATCGAGACCCGACGC chr16:82129217-Reference-T;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Variant C tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CATCTCGTGTGC CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcatctcgtgtgcAGATCGAGACCCGACGC chr16:82129217-Variant-C;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Reference T tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CGTCAACTGTGG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcgtcaactgtggAGATCGAGACCCGACGC chr16:82129217-Reference-T;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Reference T tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AGGTACCTTAAG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaTaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAaggtaccttaagAGATCGAGACCCGACGC chr16:82129217-Reference-T;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative G tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct GACGTTCAATCA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaGaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAgacgttcaatcaAGATCGAGACCCGACGC chr16:82129217-Alternative-G;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative A tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct GATCGGCTATCG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAgatcggctatcgAGATCGAGACCCGACGC chr16:82129217-Alternative-A;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Variant C tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AATCACGAACGA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAaatcacgaacgaAGATCGAGACCCGACGC chr16:82129217-Variant-C;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Variant C tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct CAAGCGAGTAGG CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaCaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAcaagcgagtaggAGATCGAGACCCGACGC chr16:82129217-Variant-C;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative A tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct AGCGGTTATCAT CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAagcggttatcatAGATCGAGACCCGACGC chr16:82129217-Alternative-A;Patient-81 chr16:82129217-TC DeNovo Patient-81 intronic HSD17B2 0.000573 0.000296942 0.13 4.69 -0.65 HSD17B2 60358 Alternative A tgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacct GTGATCGGCGAA CGACGCGGTCTCTCTCTtgtactttgaggactcttgcctacagaaataaagccaaagtaaaaacgaaAaggtggtgaaagtcgatttactgcagcagtgcctgaaatgctgaaacctAGAGGGAGACGGACGTCTCAATAAgtgatcggcgaaAGATCGAGACCCGACGC chr16:82129217-Alternative-A;Patient-81 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Variant G tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ACGTCCTACTTA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAacgtcctacttaAGATCGAGACCCGACGC chr16:82618589-Variant-G;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Variant G tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg CGCATAACGAAT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAcgcataacgaatAGATCGAGACCCGACGC chr16:82618589-Variant-G;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Reference T tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg AGGAGGTACTTA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAaggaggtacttaAGATCGAGACCCGACGC chr16:82618589-Reference-T;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Reference T tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg CTACCATGACGC CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAActaccatgacgcAGATCGAGACCCGACGC chr16:82618589-Reference-T;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Reference T tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg CTGCTAGTGGAC CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAActgctagtggacAGATCGAGACCCGACGC chr16:82618589-Reference-T;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative C tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ATCGAACTAACG CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAatcgaactaacgAGATCGAGACCCGACGC chr16:82618589-Alternative-C;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Variant G tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GACGTCTTCGTC CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAgacgtcttcgtcAGATCGAGACCCGACGC chr16:82618589-Variant-G;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative C tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg AGTCGAATATGG CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAagtcgaatatggAGATCGAGACCCGACGC chr16:82618589-Alternative-C;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Variant G tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GTGCGATACGTT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAgtgcgatacgttAGATCGAGACCCGACGC chr16:82618589-Variant-G;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative A tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GACGATCAATCG CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAgacgatcaatcgAGATCGAGACCCGACGC chr16:82618589-Alternative-A;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative A tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ATTGCTTCGCAT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAattgcttcgcatAGATCGAGACCCGACGC chr16:82618589-Alternative-A;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Variant G tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GCGTGTTCTCGT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacGacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAgcgtgttctcgtAGATCGAGACCCGACGC chr16:82618589-Variant-G;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Reference T tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GGCAAGTTGATA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAggcaagttgataAGATCGAGACCCGACGC chr16:82618589-Reference-T;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Reference T tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GCATCCGTCGTT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacTacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAgcatccgtcgttAGATCGAGACCCGACGC chr16:82618589-Reference-T;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative A tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg GGAACGAGCTGT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAggaacgagctgtAGATCGAGACCCGACGC chr16:82618589-Alternative-A;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative A tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ACCGAAGGAGAA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAaccgaaggagaaAGATCGAGACCCGACGC chr16:82618589-Alternative-A;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative C tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ACAGCACGTACA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAacagcacgtacaAGATCGAGACCCGACGC chr16:82618589-Alternative-C;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative C tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg CAGCTACAACAC CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAcagctacaacacAGATCGAGACCCGACGC chr16:82618589-Alternative-C;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative C tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg CTGAAGTGTACT CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacCacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAActgaagtgtactAGATCGAGACCCGACGC chr16:82618589-Alternative-C;Patient-49 chr16:82618589-TG Inherited Patient-49 intergenic 0.000478 0.000513 -0.05 1.96 -3.03 CDH13 41809 Alternative A tcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtg ATCCTATGCGAA CGACGCGGTCTCTCTCTtcagatggcaaagggaggtgctggcagggactggcagcaaatgagcaaacAacagagatgagagggtgggacagagcctgcgttttgtaagggaagagtgAGAGGGAGACGGACGTCTCAATAAatcctatgcgaaAGATCGAGACCCGACGC chr16:82618589-Alternative-A;Patient-49 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Reference G cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa AGTGTCTGACGG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAagtgtctgacggAGATCGAGACCCGACGC chr16:82675416-Reference-G;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Reference G cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GACTGGCAAGCA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgactggcaagcaAGATCGAGACCCGACGC chr16:82675416-Reference-G;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Reference G cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CGTTGTCTAAGA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcgttgtctaagaAGATCGAGACCCGACGC chr16:82675416-Reference-G;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Reference G cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GGTTGTCTCGTC CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAggttgtctcgtcAGATCGAGACCCGACGC chr16:82675416-Reference-G;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative A cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa AATAGGCTAGGT CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAaataggctaggtAGATCGAGACCCGACGC chr16:82675416-Alternative-A;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Reference G cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GTTCAACCTAAG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctGctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgttcaacctaagAGATCGAGACCCGACGC chr16:82675416-Reference-G;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative A cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CGGCTCTCCATA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcggctctccataAGATCGAGACCCGACGC chr16:82675416-Alternative-A;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Variant T cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GAGATCACGTGG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgagatcacgtggAGATCGAGACCCGACGC chr16:82675416-Variant-T;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Variant T cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CGCCAGAACGAT CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcgccagaacgatAGATCGAGACCCGACGC chr16:82675416-Variant-T;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative C cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa AATGTGTGCGCG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAaatgtgtgcgcgAGATCGAGACCCGACGC chr16:82675416-Alternative-C;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative C cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CAACTAACCGAA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcaactaaccgaaAGATCGAGACCCGACGC chr16:82675416-Alternative-C;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Variant T cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CAGGATACGATA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcaggatacgataAGATCGAGACCCGACGC chr16:82675416-Variant-T;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative A cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GCGCGTACTACA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgcgcgtactacaAGATCGAGACCCGACGC chr16:82675416-Alternative-A;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Variant T cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa AGGCCAAGTAGG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAaggccaagtaggAGATCGAGACCCGACGC chr16:82675416-Variant-T;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Variant T cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CTGCTGTTATGT CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctTctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAActgctgttatgtAGATCGAGACCCGACGC chr16:82675416-Variant-T;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative A cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa ACACAACGCACG CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAacacaacgcacgAGATCGAGACCCGACGC chr16:82675416-Alternative-A;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative A cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GTTATCCTGGAA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctActctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgttatcctggaaAGATCGAGACCCGACGC chr16:82675416-Alternative-A;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative C cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CACGCTTACAGT CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcacgcttacagtAGATCGAGACCCGACGC chr16:82675416-Alternative-C;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative C cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa GTACGGACGAGT CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAgtacggacgagtAGATCGAGACCCGACGC chr16:82675416-Alternative-C;Patient-100 chr16:82675416-GT DeNovo Patient-100 intronic CDH13 6.4e-05 9.66e-05 -0.25 0.52 -3.32 CDH13 15016 Alternative C cttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaa CGGATTCGGACA CGACGCGGTCTCTCTCTcttttctaggcactgggaatacagaaatgagtaagacaggccaagtccctCctctggtgagcttatgtactggctgggagagagacaataaaaaaatgaaAGAGGGAGACGGACGTCTCAATAAcggattcggacaAGATCGAGACCCGACGC chr16:82675416-Alternative-C;Patient-100 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative G attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc ACACGAATCGGC CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAacacgaatcggcAGATCGAGACCCGACGC chr16:83890577-Alternative-G;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Variant C attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CAGCAGCGGATA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcagcagcggataAGATCGAGACCCGACGC chr16:83890577-Variant-C;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative A attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc AGCTAGATTCCA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAagctagattccaAGATCGAGACCCGACGC chr16:83890577-Alternative-A;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Variant C attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CGTCGATACCTT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcgtcgataccttAGATCGAGACCCGACGC chr16:83890577-Variant-C;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative A attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CGATTCATGGAT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcgattcatggatAGATCGAGACCCGACGC chr16:83890577-Alternative-A;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative G attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CGTTGCTCCAGT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcgttgctccagtAGATCGAGACCCGACGC chr16:83890577-Alternative-G;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative G attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GGATAATCGGCG CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAggataatcggcgAGATCGAGACCCGACGC chr16:83890577-Alternative-G;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Reference T attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc AGGTATGGAGGT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAaggtatggaggtAGATCGAGACCCGACGC chr16:83890577-Reference-T;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative G attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc ATAAGTGACGCA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAataagtgacgcaAGATCGAGACCCGACGC chr16:83890577-Alternative-G;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Reference T attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc ACGTACCGTTCG CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAacgtaccgttcgAGATCGAGACCCGACGC chr16:83890577-Reference-T;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Variant C attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CATAACAACCGT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcataacaaccgtAGATCGAGACCCGACGC chr16:83890577-Variant-C;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Reference T attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CATTATTCGCCA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcattattcgccaAGATCGAGACCCGACGC chr16:83890577-Reference-T;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative A attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CGTAATTAACCG CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAcgtaattaaccgAGATCGAGACCCGACGC chr16:83890577-Alternative-A;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative G attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GCAGGTGACGAT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaGtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgcaggtgacgatAGATCGAGACCCGACGC chr16:83890577-Alternative-G;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative A attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GATGGCATCAGG CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgatggcatcaggAGATCGAGACCCGACGC chr16:83890577-Alternative-A;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Variant C attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GACAAGCGCTGT CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgacaagcgctgtAGATCGAGACCCGACGC chr16:83890577-Variant-C;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Reference T attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GTATCGTGGTCG CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgtatcgtggtcgAGATCGAGACCCGACGC chr16:83890577-Reference-T;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Variant C attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc CTCAACGCGCTA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaCtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAActcaacgcgctaAGATCGAGACCCGACGC chr16:83890577-Variant-C;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Alternative A attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GTACCACAGCAA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaAtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgtaccacagcaaAGATCGAGACCCGACGC chr16:83890577-Alternative-A;Patient-22 chr16:83890577-TC Inherited Patient-22 intergenic 3.2e-05 0.000513 -0.06 1.8 -1.14 HSBP1 49068 Reference T attcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggc GCACGTACTATA CGACGCGGTCTCTCTCTattcctggtgccatattcaccaagatttatggggcttttgtaatacctaaTtgggattggtaacaatacccgagcctccaccccgtggaatgttttaggcAGAGGGAGACGGACGTCTCAATAAgcacgtactataAGATCGAGACCCGACGC chr16:83890577-Reference-T;Patient-22 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Variant A ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc ACAACTCGGACA CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAacaactcggacaAGATCGAGACCCGACGC chr16:84739742-Variant-A;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative C ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc AATGTGCTTACG CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAaatgtgcttacgAGATCGAGACCCGACGC chr16:84739742-Alternative-C;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Variant A ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CACAACGAAGCA CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAcacaacgaagcaAGATCGAGACCCGACGC chr16:84739742-Variant-A;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative C ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc GCATTGTGCGAC CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAgcattgtgcgacAGATCGAGACCCGACGC chr16:84739742-Alternative-C;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Reference G ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc GGTCGATATTGC CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAggtcgatattgcAGATCGAGACCCGACGC chr16:84739742-Reference-G;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Variant A ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc AGCGTCTACGGT CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAagcgtctacggtAGATCGAGACCCGACGC chr16:84739742-Variant-A;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Variant A ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc GGTTACCGTACC CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAggttaccgtaccAGATCGAGACCCGACGC chr16:84739742-Variant-A;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative C ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc GGTAAGGCGGAT CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAggtaaggcggatAGATCGAGACCCGACGC chr16:84739742-Alternative-C;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Reference G ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc ATCATAGATCGG CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAatcatagatcggAGATCGAGACCCGACGC chr16:84739742-Reference-G;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative C ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc ATAGCATTGACC CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAatagcattgaccAGATCGAGACCCGACGC chr16:84739742-Alternative-C;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative T ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc AAGTAGCTATGG CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAaagtagctatggAGATCGAGACCCGACGC chr16:84739742-Alternative-T;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Variant A ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CGAAGTGAACGA CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaActtcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAcgaagtgaacgaAGATCGAGACCCGACGC chr16:84739742-Variant-A;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative T ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CGAGATTCGCGT CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAcgagattcgcgtAGATCGAGACCCGACGC chr16:84739742-Alternative-T;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Reference G ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc GATGCACATACG CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAgatgcacatacgAGATCGAGACCCGACGC chr16:84739742-Reference-G;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative C ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CTGCGGTAATCG CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaCcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAActgcggtaatcgAGATCGAGACCCGACGC chr16:84739742-Alternative-C;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Reference G ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc ACACAGGTCGAA CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAacacaggtcgaaAGATCGAGACCCGACGC chr16:84739742-Reference-G;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative T ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CTGGTTATCGAA CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAActggttatcgaaAGATCGAGACCCGACGC chr16:84739742-Alternative-T;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative T ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc CAGACTTCGAAT CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAcagacttcgaatAGATCGAGACCCGACGC chr16:84739742-Alternative-T;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Alternative T ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc AGTCGAACCGTC CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaTcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAagtcgaaccgtcAGATCGAGACCCGACGC chr16:84739742-Alternative-T;Patient-54 chr16:84739742-GA Inherited Patient-54 intronic USP10 0.000159 4.95e-05 -0.65 0.03 -1.64 USP10 6186 Reference G ttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctcc ACTTAGCGGATT CGACGCGGTCTCTCTCTttcccaggctggtcttgaactcctggcctcaagggatcccttctgcttcaGcttcctaaagtactgggattacaggtgtgagccaccgcgcctagcctccAGAGGGAGACGGACGTCTCAATAAacttagcggattAGATCGAGACCCGACGC chr16:84739742-Reference-G;Patient-54 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative C tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CTATCGCCGAAT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAActatcgccgaatAGATCGAGACCCGACGC chr16:84830112-Alternative-C;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative C tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat GATAGCCGCATC CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAgatagccgcatcAGATCGAGACCCGACGC chr16:84830112-Alternative-C;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative C tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CGGCATTAATCA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAcggcattaatcaAGATCGAGACCCGACGC chr16:84830112-Alternative-C;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Reference A tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat GTCAGTAGAATC CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAgtcagtagaatcAGATCGAGACCCGACGC chr16:84830112-Reference-A;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Variant G tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat GTGACTAGGTGG CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAgtgactaggtggAGATCGAGACCCGACGC chr16:84830112-Variant-G;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Variant G tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AGATTCGTGCTT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAagattcgtgcttAGATCGAGACCCGACGC chr16:84830112-Variant-G;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Variant G tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AGGCTTCGATGC CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAaggcttcgatgcAGATCGAGACCCGACGC chr16:84830112-Variant-G;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Variant G tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat GGCGTAATTATC CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAggcgtaattatcAGATCGAGACCCGACGC chr16:84830112-Variant-G;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative T tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AGACGGCTGTTC CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAagacggctgttcAGATCGAGACCCGACGC chr16:84830112-Alternative-T;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Variant G tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat ATTCAAGTACGG CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaGtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAattcaagtacggAGATCGAGACCCGACGC chr16:84830112-Variant-G;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative C tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CAGATCGTCTAA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAcagatcgtctaaAGATCGAGACCCGACGC chr16:84830112-Alternative-C;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Reference A tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat GCCTTGAGTCAA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAgccttgagtcaaAGATCGAGACCCGACGC chr16:84830112-Reference-A;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Reference A tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AGATTAGTCACG CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAagattagtcacgAGATCGAGACCCGACGC chr16:84830112-Reference-A;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative C tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat ACATGTCCGCGA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaCtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAacatgtccgcgaAGATCGAGACCCGACGC chr16:84830112-Alternative-C;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Reference A tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AACGATTCGCAT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAaacgattcgcatAGATCGAGACCCGACGC chr16:84830112-Reference-A;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative T tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CAGTATGGTGAA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAcagtatggtgaaAGATCGAGACCCGACGC chr16:84830112-Alternative-T;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative T tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CGAAGCCTGACA CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAcgaagcctgacaAGATCGAGACCCGACGC chr16:84830112-Alternative-T;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative T tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat AACACCGGTTAT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAAaacaccggttatAGATCGAGACCCGACGC chr16:84830112-Alternative-T;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Alternative T tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CTAGAATCACGT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaTtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAActagaatcacgtAGATCGAGACCCGACGC chr16:84830112-Alternative-T;Patient-3 chr16:84830112-AG DeNovo Patient-3 intergenic NA 0.000513 -0.03 2.16 0.15 USP10 96556 Reference A tttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaat CTGAGAAGTTCT CGACGCGGTCTCTCTCTtttgttttgtttttgagacagtcttgctccgtcaccgaggctggagtgcaAtggtatgatctcagttcactgcaacatccgcttcctgagttcaagaaatAGAGGGAGACGGACGTCTCAATAActgagaagttctAGATCGAGACCCGACGC chr16:84830112-Reference-A;Patient-3 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Reference C cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc ATCTGCACGCGT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAatctgcacgcgtAGATCGAGACCCGACGC chr16:86675269-Reference-C;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Variant T cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CTATGCTTATGC CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAActatgcttatgcAGATCGAGACCCGACGC chr16:86675269-Variant-T;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative A cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GGAGGACTTGAC CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAggaggacttgacAGATCGAGACCCGACGC chr16:86675269-Alternative-A;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Reference C cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GGTTCGTGAGCT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAggttcgtgagctAGATCGAGACCCGACGC chr16:86675269-Reference-C;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Reference C cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CGCTGGTTATAA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAcgctggttataaAGATCGAGACCCGACGC chr16:86675269-Reference-C;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Reference C cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GACGAGCATGCA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAgacgagcatgcaAGATCGAGACCCGACGC chr16:86675269-Reference-C;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Reference C cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CATGCGCGCTTA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcCggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAcatgcgcgcttaAGATCGAGACCCGACGC chr16:86675269-Reference-C;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Variant T cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CGCTAACTTACA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAcgctaacttacaAGATCGAGACCCGACGC chr16:86675269-Variant-T;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative A cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc ATCATGCGGTTA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAatcatgcggttaAGATCGAGACCCGACGC chr16:86675269-Alternative-A;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative G cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CGCGTTGATCGT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAcgcgttgatcgtAGATCGAGACCCGACGC chr16:86675269-Alternative-G;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative A cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CTAATCCGTACA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAActaatccgtacaAGATCGAGACCCGACGC chr16:86675269-Alternative-A;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative G cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc AGGCCAATGGAA CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAaggccaatggaaAGATCGAGACCCGACGC chr16:86675269-Alternative-G;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative G cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc ACATGCGACGAT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAacatgcgacgatAGATCGAGACCCGACGC chr16:86675269-Alternative-G;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Variant T cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GAGGTGTTGGAC CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAgaggtgttggacAGATCGAGACCCGACGC chr16:86675269-Variant-T;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative G cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GACGTATATTCG CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAgacgtatattcgAGATCGAGACCCGACGC chr16:86675269-Alternative-G;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Variant T cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc GAGATATAGTCG CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAgagatatagtcgAGATCGAGACCCGACGC chr16:86675269-Variant-T;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative G cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc AAGGCGATACGG CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcGggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAaaggcgatacggAGATCGAGACCCGACGC chr16:86675269-Alternative-G;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative A cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc AGTCGCGCTGTT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAagtcgcgctgttAGATCGAGACCCGACGC chr16:86675269-Alternative-A;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Variant T cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc ACGGCGAGATAC CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcTggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAacggcgagatacAGATCGAGACCCGACGC chr16:86675269-Variant-T;Patient-54 chr16:86675269-CT DeNovo Patient-54 intergenic NA 0.000513 -0.65 0.03 -2.37 FOXL1 63153 Alternative A cattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatc CGTTACGCCACT CGACGCGGTCTCTCTCTcattgctctgggtctgtctctgggcctagggtgctgggacttagggcctcAggtggcttcctgtgtttctgttgtcctgtagtctatcgctgtgagtatcAGAGGGAGACGGACGTCTCAATAAcgttacgccactAGATCGAGACCCGACGC chr16:86675269-Alternative-A;Patient-54 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative G ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa ATCGCATCGATA CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAatcgcatcgataAGATCGAGACCCGACGC chr16:86698502-Alternative-G;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Variant T ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa AACCGAACGTTC CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAaaccgaacgttcAGATCGAGACCCGACGC chr16:86698502-Variant-T;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Variant T ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CGGTCGTCCATT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcggtcgtccattAGATCGAGACCCGACGC chr16:86698502-Variant-T;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Variant T ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CGCTTCGGAACA CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcgcttcggaacaAGATCGAGACCCGACGC chr16:86698502-Variant-T;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Variant T ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CTAACAAGCGAT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAActaacaagcgatAGATCGAGACCCGACGC chr16:86698502-Variant-T;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative G ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CAGACGGTTGCT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcagacggttgctAGATCGAGACCCGACGC chr16:86698502-Alternative-G;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative G ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa ACAGCGCAATCG CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAacagcgcaatcgAGATCGAGACCCGACGC chr16:86698502-Alternative-G;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative A ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CTGCGTCTAGCT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAActgcgtctagctAGATCGAGACCCGACGC chr16:86698502-Alternative-A;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative G ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa AACGCTGACAGG CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAaacgctgacaggAGATCGAGACCCGACGC chr16:86698502-Alternative-G;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Variant T ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CGTTGTATGGCG CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaTgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcgttgtatggcgAGATCGAGACCCGACGC chr16:86698502-Variant-T;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative G ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CATAGATGACGA CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaGgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcatagatgacgaAGATCGAGACCCGACGC chr16:86698502-Alternative-G;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Reference C ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa ATTGAAGGATGG CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAattgaaggatggAGATCGAGACCCGACGC chr16:86698502-Reference-C;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative A ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa ACTTAAGGAGGT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAacttaaggaggtAGATCGAGACCCGACGC chr16:86698502-Alternative-A;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Reference C ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CAGGTAGTAAGT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcaggtagtaagtAGATCGAGACCCGACGC chr16:86698502-Reference-C;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative A ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa AGTACCAACGTC CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAagtaccaacgtcAGATCGAGACCCGACGC chr16:86698502-Alternative-A;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Reference C ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CGGCTAGTAACC CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcggctagtaaccAGATCGAGACCCGACGC chr16:86698502-Reference-C;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative A ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CATAGGTGTCTA CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAcataggtgtctaAGATCGAGACCCGACGC chr16:86698502-Alternative-A;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Reference C ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa CTAGCGTAAGTT CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAActagcgtaagttAGATCGAGACCCGACGC chr16:86698502-Reference-C;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Reference C ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa GGAACGTCAATA CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaCgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAggaacgtcaataAGATCGAGACCCGACGC chr16:86698502-Reference-C;Patient-40 chr16:86698502-CT DeNovo Patient-40 intergenic 6.4e-05 0.000513 -0.06 1.86 -1.53 FOXL1 86386 Alternative A ccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaa ATACGGAGATAC CGACGCGGTCTCTCTCTccaaaccccagggcatttaagggaaaaagatatctagagatgcagccttaAgtgggttccctagaagtagaccctgagacaaggttgcgtgtgaaaggaaAGAGGGAGACGGACGTCTCAATAAatacggagatacAGATCGAGACCCGACGC chr16:86698502-Alternative-A;Patient-40 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative A cttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GGCTTGGTTACG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAggcttggttacgAGATCGAGACCCGACGC chr16:875133-Alternative-A;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative A cttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GAGTAATGACCA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgagtaatgaccaAGATCGAGACCCGACGC chr16:875133-Alternative-A;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Variant T cttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg CGAACGCTGCAT CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAcgaacgctgcatAGATCGAGACCCGACGC chr16:875133-Variant-T;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Variant T cttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg CAACTCTTAAGG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAcaactcttaaggAGATCGAGACCCGACGC chr16:875133-Variant-T;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Reference C cttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GCGCCTGATTGA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgcgcctgattgaAGATCGAGACCCGACGC chr16:875133-Reference-C;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Reference C cttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg AGGTAGAACGCG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAaggtagaacgcgAGATCGAGACCCGACGC chr16:875133-Reference-C;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Reference C cttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg AGTTGACGTAAC CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAagttgacgtaacAGATCGAGACCCGACGC chr16:875133-Reference-C;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Reference C cttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg ACCTACCGACAT CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAacctaccgacatAGATCGAGACCCGACGC chr16:875133-Reference-C;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative A cttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg CTGCGAGTTGAG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAActgcgagttgagAGATCGAGACCCGACGC chr16:875133-Alternative-A;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Variant T cttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GCGGATTGCAAG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgcggattgcaagAGATCGAGACCCGACGC chr16:875133-Variant-T;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Reference C cttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GTGAGAATGCCT CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattCgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgtgagaatgcctAGATCGAGACCCGACGC chr16:875133-Reference-C;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative A cttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg AGCAACGCGGAA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAagcaacgcggaaAGATCGAGACCCGACGC chr16:875133-Alternative-A;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative A cttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GTCGATATCAGT CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattAgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgtcgatatcagtAGATCGAGACCCGACGC chr16:875133-Alternative-A;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative G cttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg GTCGCAGAACAC CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAgtcgcagaacacAGATCGAGACCCGACGC chr16:875133-Alternative-G;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative G cttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg AAGGTAGGTAAG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAaaggtaggtaagAGATCGAGACCCGACGC chr16:875133-Alternative-G;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Variant T cttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg CGTACGTGTGCA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAcgtacgtgtgcaAGATCGAGACCCGACGC chr16:875133-Variant-T;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative G cttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg ACCGCATTGTGG CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAaccgcattgtggAGATCGAGACCCGACGC chr16:875133-Alternative-G;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative G cttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg ATCTCTCGCGCT CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAatctctcgcgctAGATCGAGACCCGACGC chr16:875133-Alternative-G;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Variant T cttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg CGTTCATGTCTA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattTgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAcgttcatgtctaAGATCGAGACCCGACGC chr16:875133-Variant-T;Patient-7 chr16:875133-CT DeNovo Patient-7 intergenic 6.4e-05 0.000513 -0.21 0.66 -0.73 GNG13 24399 Alternative G cttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccg AACACCACCACA CGACGCGGTCTCTCTCTcttctctggacagtgagaagccacgatggggcattggtgccgattccattGgcgtcacaaagccctgcctcttaccaaccggcgggtgctcagccggccgAGAGGGAGACGGACGTCTCAATAAaacaccaccacaAGATCGAGACCCGACGC chr16:875133-Alternative-G;Patient-7 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative G tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag AGGTATCGACAG CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAaggtatcgacagAGATCGAGACCCGACGC chr16:88613374-Alternative-G;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Variant T tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag GTCAATACGTAC CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAgtcaatacgtacAGATCGAGACCCGACGC chr16:88613374-Variant-T;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative G tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGAACCAGAATT CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcgaaccagaattAGATCGAGACCCGACGC chr16:88613374-Alternative-G;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative C tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag ACGAACCGATAA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAacgaaccgataaAGATCGAGACCCGACGC chr16:88613374-Alternative-C;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative C tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag GCAGGATACGCA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAgcaggatacgcaAGATCGAGACCCGACGC chr16:88613374-Alternative-C;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Variant T tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag GGTTACAATGAG CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAggttacaatgagAGATCGAGACCCGACGC chr16:88613374-Variant-T;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Variant T tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGGATTATCCGC CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcggattatccgcAGATCGAGACCCGACGC chr16:88613374-Variant-T;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Reference A tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CTATAAGCACGT CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAActataagcacgtAGATCGAGACCCGACGC chr16:88613374-Reference-A;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Variant T tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CAGCGAGTACGA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcagcgagtacgaAGATCGAGACCCGACGC chr16:88613374-Variant-T;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative G tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGGACTAACATA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcggactaacataAGATCGAGACCCGACGC chr16:88613374-Alternative-G;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative C tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGGATCTTGCAC CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcggatcttgcacAGATCGAGACCCGACGC chr16:88613374-Alternative-C;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Reference A tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGGAGATATAGA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcggagatatagaAGATCGAGACCCGACGC chr16:88613374-Reference-A;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative C tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag AGTAGAGTGCGA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAagtagagtgcgaAGATCGAGACCCGACGC chr16:88613374-Alternative-C;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative C tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CTGGCAGTTGCA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgCggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAActggcagttgcaAGATCGAGACCCGACGC chr16:88613374-Alternative-C;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Variant T tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGGCGTCATCAA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgTggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcggcgtcatcaaAGATCGAGACCCGACGC chr16:88613374-Variant-T;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Reference A tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGCGAATCAGCT CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcgcgaatcagctAGATCGAGACCCGACGC chr16:88613374-Reference-A;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Reference A tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag GTGGCGGTATGA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAgtggcggtatgaAGATCGAGACCCGACGC chr16:88613374-Reference-A;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Reference A tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag ATTCATCTTGCG CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgAggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAattcatcttgcgAGATCGAGACCCGACGC chr16:88613374-Reference-A;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative G tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag GACGAGTTCGCT CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAgacgagttcgctAGATCGAGACCCGACGC chr16:88613374-Alternative-G;Patient-26 chr16:88613374-AT DeNovo Patient-26 intergenic NA 0.000513 -0.09 1.54 0.13 IL17C 91626 Alternative G tgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgag CGCGCTTACTAA CGACGCGGTCTCTCTCTtgaggggacagagggtggagaaggtgaggggacagagggtggagaaggtgGggggacagagggtggggaaggtgaggggacagagggtggagaaggtgagAGAGGGAGACGGACGTCTCAATAAcgcgcttactaaAGATCGAGACCCGACGC chr16:88613374-Alternative-G;Patient-26 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative G ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc ATTGTGCAACCA CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAattgtgcaaccaAGATCGAGACCCGACGC chr16:88915062-Alternative-G;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Variant T ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc ACAGATACGAAC CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAacagatacgaacAGATCGAGACCCGACGC chr16:88915062-Variant-T;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Variant T ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CTATGGTTGGAT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAActatggttggatAGATCGAGACCCGACGC chr16:88915062-Variant-T;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Variant T ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc ACAAGTAACGCA CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAacaagtaacgcaAGATCGAGACCCGACGC chr16:88915062-Variant-T;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Variant T ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc ATCCGGCTGAAC CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAatccggctgaacAGATCGAGACCCGACGC chr16:88915062-Variant-T;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative G ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc AGCCAATTACGT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAagccaattacgtAGATCGAGACCCGACGC chr16:88915062-Alternative-G;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative G ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CAGCGTGACAAG CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcagcgtgacaagAGATCGAGACCCGACGC chr16:88915062-Alternative-G;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Variant T ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CGCTCGAATATA CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcTggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcgctcgaatataAGATCGAGACCCGACGC chr16:88915062-Variant-T;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative G ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc AGCCGAAGTACC CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAagccgaagtaccAGATCGAGACCCGACGC chr16:88915062-Alternative-G;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative G ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc AACAATGCGCAT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcGggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAaacaatgcgcatAGATCGAGACCCGACGC chr16:88915062-Alternative-G;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative A ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CGAGCCTTACGA CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcgagccttacgaAGATCGAGACCCGACGC chr16:88915062-Alternative-A;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Reference C ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CGAGCAGTCGTT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcgagcagtcgttAGATCGAGACCCGACGC chr16:88915062-Reference-C;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative A ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CTCGGTCTAAGA CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAActcggtctaagaAGATCGAGACCCGACGC chr16:88915062-Alternative-A;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Reference C ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CGGAGGACAGAT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcggaggacagatAGATCGAGACCCGACGC chr16:88915062-Reference-C;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative A ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc GCCACGCTTGTT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAgccacgcttgttAGATCGAGACCCGACGC chr16:88915062-Alternative-A;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative A ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc ACACGAGCGTGT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAacacgagcgtgtAGATCGAGACCCGACGC chr16:88915062-Alternative-A;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Reference C ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc GAGATGACTAGT CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAgagatgactagtAGATCGAGACCCGACGC chr16:88915062-Reference-C;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Reference C ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CACAATCGTAGG CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcacaatcgtaggAGATCGAGACCCGACGC chr16:88915062-Reference-C;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Alternative A ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc AGGTATTCTGAC CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcAggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAaggtattctgacAGATCGAGACCCGACGC chr16:88915062-Alternative-A;Patient-25 chr16:88915062-CT Inherited Patient-25 intronic GALNS 3.2e-05 4.95e-05 -0.27 0.44 -0.37 GALNS 8311 Reference C ggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagcc CGCTTAGATTGC CGACGCGGTCTCTCTCTggttttctgcagatggaccaggggctcccctgacactgctgggtcggggcCggtgggcgtttgactcgctgggtcctggtaagtcaaagaagcagcagccAGAGGGAGACGGACGTCTCAATAAcgcttagattgcAGATCGAGACCCGACGC chr16:88915062-Reference-C;Patient-25 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Reference T gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac CTAGAACGACCG CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAActagaacgaccgAGATCGAGACCCGACGC chr16:89225173-Reference-T;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Reference T gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac CGGACCGAAGAT CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAcggaccgaagatAGATCGAGACCCGACGC chr16:89225173-Reference-T;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Reference T gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GTGCTACGTAGA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgtgctacgtagaAGATCGAGACCCGACGC chr16:89225173-Reference-T;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative G gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac CACAATATCGCA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAcacaatatcgcaAGATCGAGACCCGACGC chr16:89225173-Alternative-G;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Reference T gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GATCAACCGCAT CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgatcaaccgcatAGATCGAGACCCGACGC chr16:89225173-Reference-T;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative G gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac CGTGAAGATGCA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAcgtgaagatgcaAGATCGAGACCCGACGC chr16:89225173-Alternative-G;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Reference T gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac AAGAACCAGCTA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaTgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAaagaaccagctaAGATCGAGACCCGACGC chr16:89225173-Reference-T;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative A gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac ATCCGTTCCGTC CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAatccgttccgtcAGATCGAGACCCGACGC chr16:89225173-Alternative-A;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative A gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GCGTTCTCGAAC CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgcgttctcgaacAGATCGAGACCCGACGC chr16:89225173-Alternative-A;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Variant C gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac ACCACAACGGCA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAaccacaacggcaAGATCGAGACCCGACGC chr16:89225173-Variant-C;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative G gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GCGATCGGCTAT CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgcgatcggctatAGATCGAGACCCGACGC chr16:89225173-Alternative-G;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative A gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac ATAAGTCGCGGC CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAataagtcgcggcAGATCGAGACCCGACGC chr16:89225173-Alternative-A;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Variant C gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GCAAGATACGAG CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgcaagatacgagAGATCGAGACCCGACGC chr16:89225173-Variant-C;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Variant C gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac AGCTTGGTACAT CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAagcttggtacatAGATCGAGACCCGACGC chr16:89225173-Variant-C;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Variant C gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac CTTGCATCGTCG CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAActtgcatcgtcgAGATCGAGACCCGACGC chr16:89225173-Variant-C;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative A gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac ACCTACACGATA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAacctacacgataAGATCGAGACCCGACGC chr16:89225173-Alternative-A;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative G gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GGATCTTCGTAA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAggatcttcgtaaAGATCGAGACCCGACGC chr16:89225173-Alternative-G;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Variant C gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GCGTTCCGTCTA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaCgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgcgttccgtctaAGATCGAGACCCGACGC chr16:89225173-Variant-C;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative G gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GTCTAGCAAGTT CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaGgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgtctagcaagttAGATCGAGACCCGACGC chr16:89225173-Alternative-G;Patient-98 chr16:89225173-TC DeNovo Patient-98 intergenic NA 0.000513 0.27 6.82 -1.66 CDH15 12989 Alternative A gcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacac GCGTAGACGTCA CGACGCGGTCTCTCTCTgcctgcatatgtcacatgtatgtgtatctcacacgcctgcgtatatcacaAgtatgtgtgtgtcacacacacacctgcatacatacaggcacatggacacAGAGGGAGACGGACGTCTCAATAAgcgtagacgtcaAGATCGAGACCCGACGC chr16:89225173-Alternative-A;Patient-98 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Variant A ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac ACTCACGCATAA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAactcacgcataaAGATCGAGACCCGACGC chr16:89267945-Variant-A;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative T ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac AGTGACTAACGA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAagtgactaacgaAGATCGAGACCCGACGC chr16:89267945-Alternative-T;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Variant A ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GCGACTCATTAA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgcgactcattaaAGATCGAGACCCGACGC chr16:89267945-Variant-A;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Variant A ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GACAATGTCTAC CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgacaatgtctacAGATCGAGACCCGACGC chr16:89267945-Variant-A;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative T ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac CTGAAGATACGT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAActgaagatacgtAGATCGAGACCCGACGC chr16:89267945-Alternative-T;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Reference G ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GTGTCTCGACAG CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgtgtctcgacagAGATCGAGACCCGACGC chr16:89267945-Reference-G;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Variant A ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac CGCGACCTAAGT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAcgcgacctaagtAGATCGAGACCCGACGC chr16:89267945-Variant-A;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Reference G ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac CAGCTTATTGTC CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAcagcttattgtcAGATCGAGACCCGACGC chr16:89267945-Reference-G;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative C ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GTAGTGGCATAA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgtagtggcataaAGATCGAGACCCGACGC chr16:89267945-Alternative-C;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative C ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac AGACGTTATCGT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAagacgttatcgtAGATCGAGACCCGACGC chr16:89267945-Alternative-C;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative T ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GATATTGCCGAA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgatattgccgaaAGATCGAGACCCGACGC chr16:89267945-Alternative-T;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative C ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac CGTCAACATAAC CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAcgtcaacataacAGATCGAGACCCGACGC chr16:89267945-Alternative-C;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative C ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac AGAGTAACGCCT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAagagtaacgcctAGATCGAGACCCGACGC chr16:89267945-Alternative-C;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative T ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac CACGCCACATTC CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAcacgccacattcAGATCGAGACCCGACGC chr16:89267945-Alternative-T;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Variant A ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GGAGATCATCTT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgAtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAggagatcatcttAGATCGAGACCCGACGC chr16:89267945-Variant-A;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Reference G ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac ATCGCTGATCTA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAatcgctgatctaAGATCGAGACCCGACGC chr16:89267945-Reference-G;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Reference G ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac GTTATCAGCTGA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAgttatcagctgaAGATCGAGACCCGACGC chr16:89267945-Reference-G;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Reference G ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac AACGTACCGGAC CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgGtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAaacgtaccggacAGATCGAGACCCGACGC chr16:89267945-Reference-G;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative T ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac ACGTAGCGCAAT CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgTtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAacgtagcgcaatAGATCGAGACCCGACGC chr16:89267945-Alternative-T;Patient-33 chr16:89267945-GA DeNovo Patient-33 intergenic 6.4e-05 0.000513 NA NA NA CDH15 29781 Alternative C ctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtac AACGTGCATCTA CGACGCGGTCTCTCTCTctgggggcaacagcgtggggtccggtcggcagtggggcgcgggctgcgcgCtaagcagctcctcggagctcagcaccagccccagcactatgcagggtacAGAGGGAGACGGACGTCTCAATAAaacgtgcatctaAGATCGAGACCCGACGC chr16:89267945-Alternative-C;Patient-33 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative G cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CGCTATCATGTT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAcgctatcatgttAGATCGAGACCCGACGC chr16:89306177-Alternative-G;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative G cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct ACCTTAATGCCA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAaccttaatgccaAGATCGAGACCCGACGC chr16:89306177-Alternative-G;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative G cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CTAACAGTCTTC CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAActaacagtcttcAGATCGAGACCCGACGC chr16:89306177-Alternative-G;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative T cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CAGACGCTAGCT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAcagacgctagctAGATCGAGACCCGACGC chr16:89306177-Alternative-T;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative G cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct ATTGCTCGCAAT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAattgctcgcaatAGATCGAGACCCGACGC chr16:89306177-Alternative-G;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative G cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CATGACACGCGT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAcatgacacgcgtAGATCGAGACCCGACGC chr16:89306177-Alternative-G;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative T cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct ATATTCGCGGCG CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAatattcgcggcgAGATCGAGACCCGACGC chr16:89306177-Alternative-T;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative T cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CTTGATGGTCAA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAActtgatggtcaaAGATCGAGACCCGACGC chr16:89306177-Alternative-T;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative T cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct AGCATCCGGAAC CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAagcatccggaacAGATCGAGACCCGACGC chr16:89306177-Alternative-T;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Alternative T cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GACAACAGACTA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgacaacagactaAGATCGAGACCCGACGC chr16:89306177-Alternative-T;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Reference A cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GTTACCTATCGT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgttacctatcgtAGATCGAGACCCGACGC chr16:89306177-Reference-A;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Reference A cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GCGATAGTCTAT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgcgatagtctatAGATCGAGACCCGACGC chr16:89306177-Reference-A;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Reference A cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CAGCTACAAGTT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAcagctacaagttAGATCGAGACCCGACGC chr16:89306177-Reference-A;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Variant C cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct AAGACCTCCAAT CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAaagacctccaatAGATCGAGACCCGACGC chr16:89306177-Variant-C;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Reference A cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GTGAGGCTATAA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgtgaggctataaAGATCGAGACCCGACGC chr16:89306177-Reference-A;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Reference A cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GTACTCCGGTAC CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgtactccggtacAGATCGAGACCCGACGC chr16:89306177-Reference-A;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Variant C cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct GCCTGATTGACG CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAgcctgattgacgAGATCGAGACCCGACGC chr16:89306177-Variant-C;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Variant C cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct AGTGTCGGACGA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAagtgtcggacgaAGATCGAGACCCGACGC chr16:89306177-Variant-C;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Variant C cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct CAAGCCGGCTAA CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAcaagccggctaaAGATCGAGACCCGACGC chr16:89306177-Variant-C;Patient-12 chr16:89306177-AC DeNovo Patient-12 intergenic 0.000296 0.000513 NA NA NA CDH15 68013 Variant C cctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttct AGATACTATCGG CGACGCGGTCTCTCTCTcctgggtggcagagcaagactgtctcaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaaaaaaccacatagacttgaacaaacgggcaaattccttgttctAGAGGGAGACGGACGTCTCAATAAagatactatcggAGATCGAGACCCGACGC chr16:89306177-Variant-C;Patient-12 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative T acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagt AGTGTACCGTCG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAagtgtaccgtcgAGATCGAGACCCGACGC chr16:89334029-Alternative-T;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative T acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagt CTGCTATACCGC CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAActgctataccgcAGATCGAGACCCGACGC chr16:89334029-Alternative-T;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative A acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagt ACGACGTTAAGA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAacgacgttaagaAGATCGAGACCCGACGC chr16:89334029-Alternative-A;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative T acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagt AAGATGGAGCTT CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAaagatggagcttAGATCGAGACCCGACGC chr16:89334029-Alternative-T;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative A acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagt CTCGTACACTAT CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAActcgtacactatAGATCGAGACCCGACGC chr16:89334029-Alternative-A;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative A acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagt AGATGCTGACTT CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAagatgctgacttAGATCGAGACCCGACGC chr16:89334029-Alternative-A;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative A acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagt CGAGACAACTAA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcgagacaactaaAGATCGAGACCCGACGC chr16:89334029-Alternative-A;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative A acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagt AGGTTCTGACAT CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaAaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAaggttctgacatAGATCGAGACCCGACGC chr16:89334029-Alternative-A;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Reference C acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagt GTCGTGATAAGA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAgtcgtgataagaAGATCGAGACCCGACGC chr16:89334029-Reference-C;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Reference C acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagt CGATTGTTGGCG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcgattgttggcgAGATCGAGACCCGACGC chr16:89334029-Reference-C;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Reference C acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagt ACAAGTCGCACG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAacaagtcgcacgAGATCGAGACCCGACGC chr16:89334029-Reference-C;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative T acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagt GCGTTGGTACGA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAgcgttggtacgaAGATCGAGACCCGACGC chr16:89334029-Alternative-T;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Variant G acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagt GTAAGCGTAGAA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAgtaagcgtagaaAGATCGAGACCCGACGC chr16:89334029-Variant-G;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Variant G acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagt ACGTTGCCTCGT CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAacgttgcctcgtAGATCGAGACCCGACGC chr16:89334029-Variant-G;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Alternative T acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagt AACGGCCAACAG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaTaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAaacggccaacagAGATCGAGACCCGACGC chr16:89334029-Alternative-T;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Variant G acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagt CACGAGCATAAG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcacgagcataagAGATCGAGACCCGACGC chr16:89334029-Variant-G;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Variant G acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagt CAAGGTCGACGA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcaaggtcgacgaAGATCGAGACCCGACGC chr16:89334029-Variant-G;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Reference C acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagt CGGAAGCGTAAG CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcggaagcgtaagAGATCGAGACCCGACGC chr16:89334029-Reference-C;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Variant G acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagt GAAGTTCGCCTA CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaGaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAgaagttcgcctaAGATCGAGACCCGACGC chr16:89334029-Variant-G;Patient-58 chr16:89334029-CG DeNovo Patient-58 3 prime UTR ANKRD11 NA 0.000319 1.02 13.44 3.23 CDH15 95865 Reference C acactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagt CACGCACTTAAC CGACGCGGTCTCTCTCTacactgtgtcagtcccacacacagcccctctcctggagggacgcactgtaCaaagagcattttaattaatttatttatttctttacacataactgaaagtAGAGGGAGACGGACGTCTCAATAAcacgcacttaacAGATCGAGACCCGACGC chr16:89334029-Reference-C;Patient-58 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Reference G ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc AAGTGTCGGATA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAaagtgtcggataAGATCGAGACCCGACGC chr16:89486608-Reference-G;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Reference G ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc ACACGTCGTATT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAacacgtcgtattAGATCGAGACCCGACGC chr16:89486608-Reference-G;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Reference G ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc CACGCACTAAGG CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAcacgcactaaggAGATCGAGACCCGACGC chr16:89486608-Reference-G;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative A ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GGCAAGCTCGTT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAggcaagctcgttAGATCGAGACCCGACGC chr16:89486608-Alternative-A;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative T ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc AGACGCCATTCA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAagacgccattcaAGATCGAGACCCGACGC chr16:89486608-Alternative-T;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Reference G ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc CGATTGATTGCA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAcgattgattgcaAGATCGAGACCCGACGC chr16:89486608-Reference-G;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Reference G ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc AGACCTAGCGCA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaGagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAagacctagcgcaAGATCGAGACCCGACGC chr16:89486608-Reference-G;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative T ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GTTCACGATTGC CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAgttcacgattgcAGATCGAGACCCGACGC chr16:89486608-Alternative-T;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative T ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc CTGAAGTACGTT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAActgaagtacgttAGATCGAGACCCGACGC chr16:89486608-Alternative-T;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative T ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc AGCGGACTACGT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAagcggactacgtAGATCGAGACCCGACGC chr16:89486608-Alternative-T;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative A ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc CTTAGGCTTGTT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAActtaggcttgttAGATCGAGACCCGACGC chr16:89486608-Alternative-A;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative A ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GTATAACGGTCT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAgtataacggtctAGATCGAGACCCGACGC chr16:89486608-Alternative-A;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative T ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc AGGAACTCCAAC CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaTagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAaggaactccaacAGATCGAGACCCGACGC chr16:89486608-Alternative-T;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative A ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GGAGTCGTTATT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAggagtcgttattAGATCGAGACCCGACGC chr16:89486608-Alternative-A;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Variant C ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc CAACCGGCGTAA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAcaaccggcgtaaAGATCGAGACCCGACGC chr16:89486608-Variant-C;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Variant C ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc ACGCTTAACTGA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAacgcttaactgaAGATCGAGACCCGACGC chr16:89486608-Variant-C;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Variant C ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GTCGCGATGAGA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAgtcgcgatgagaAGATCGAGACCCGACGC chr16:89486608-Variant-C;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Variant C ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GAGCTGACGAGT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAgagctgacgagtAGATCGAGACCCGACGC chr16:89486608-Variant-C;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Alternative A ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc ACTCACGTTCGT CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaAagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAactcacgttcgtAGATCGAGACCCGACGC chr16:89486608-Alternative-A;Patient-21 chr16:89486608-GC Inherited Patient-21 intronic ANKRD11 3.2e-05 0.000319 0.17 5.36 0.85 ANKRD11 70360 Variant C ttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatc GTGAGCTAATGA CGACGCGGTCTCTCTCTttcagtgaaaagcagcaagtgtgccacgaagctttccgtaaaagagctcaCagaggggaagagcatcagcagcaggaagccagcgaggaaccccagcatcAGAGGGAGACGGACGTCTCAATAAgtgagctaatgaAGATCGAGACCCGACGC chr16:89486608-Variant-C;Patient-21 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative A tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat CTGGCAAGAACC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAActggcaagaaccAGATCGAGACCCGACGC chr16:89919261-Alternative-A;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Reference C tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat CAATGGTAGCTT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAcaatggtagcttAGATCGAGACCCGACGC chr16:89919261-Reference-C;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Reference C tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat AGCTAACTGTTC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAagctaactgttcAGATCGAGACCCGACGC chr16:89919261-Reference-C;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative G tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GCCTTGGAATCG CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAgccttggaatcgAGATCGAGACCCGACGC chr16:89919261-Alternative-G;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative A tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ACGATTCGGCGT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAacgattcggcgtAGATCGAGACCCGACGC chr16:89919261-Alternative-A;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Reference C tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ACTCCGACCTTA CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAactccgaccttaAGATCGAGACCCGACGC chr16:89919261-Reference-C;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Reference C tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ACCTTAACCACA CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAaccttaaccacaAGATCGAGACCCGACGC chr16:89919261-Reference-C;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative A tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GCAATGTTCCGG CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAgcaatgttccggAGATCGAGACCCGACGC chr16:89919261-Alternative-A;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Variant T tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ACACTGAGGTCG CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAacactgaggtcgAGATCGAGACCCGACGC chr16:89919261-Variant-T;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Variant T tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat CAGCGTGCAACT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAcagcgtgcaactAGATCGAGACCCGACGC chr16:89919261-Variant-T;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Reference C tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat CGACGTTCATGG CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccCgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAcgacgttcatggAGATCGAGACCCGACGC chr16:89919261-Reference-C;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Variant T tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GGCGGTATTGAG CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAggcggtattgagAGATCGAGACCCGACGC chr16:89919261-Variant-T;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative G tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GATTAAGGCCGC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAgattaaggccgcAGATCGAGACCCGACGC chr16:89919261-Alternative-G;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative G tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GTATTGCAGTAC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAgtattgcagtacAGATCGAGACCCGACGC chr16:89919261-Alternative-G;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative G tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GAGACTGCGACT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAgagactgcgactAGATCGAGACCCGACGC chr16:89919261-Alternative-G;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative A tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat AAGTCGTGACGC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAaagtcgtgacgcAGATCGAGACCCGACGC chr16:89919261-Alternative-A;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Variant T tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ACAGCTCAACCT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAacagctcaacctAGATCGAGACCCGACGC chr16:89919261-Variant-T;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Variant T tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat GGTTAGCCAACA CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccTgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAggttagccaacaAGATCGAGACCCGACGC chr16:89919261-Variant-T;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative G tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat ATCGGTAACGGC CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccGgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAatcggtaacggcAGATCGAGACCCGACGC chr16:89919261-Alternative-G;Patient-70 chr16:89919261-CT DeNovo Patient-70 intronic SPIRE2 NA 0.000247451 -0.22 0.61 -1.8 SPIRE2 24353 Alternative A tctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccat CAGACGCAACCT CGACGCGGTCTCTCTCTtctcaccccccggatcccatggcccgtcttccgtcctccctctcacccccAgcatcccatggcccctcttccgtcctccctctcaccccccggatcccatAGAGGGAGACGGACGTCTCAATAAcagacgcaacctAGATCGAGACCCGACGC chr16:89919261-Alternative-A;Patient-70 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Reference C ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CTATACTGCGGC CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAActatactgcggcAGATCGAGACCCGACGC chr16:89970383-Reference-C;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative A ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GTTAAGGCGTAT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAgttaaggcgtatAGATCGAGACCCGACGC chr16:89970383-Alternative-A;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative T ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CGCTCGAGCTAA CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAcgctcgagctaaAGATCGAGACCCGACGC chr16:89970383-Alternative-T;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative T ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga AGGCACGGCAAT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAaggcacggcaatAGATCGAGACCCGACGC chr16:89970383-Alternative-T;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative T ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GCAGTATAAGGT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAgcagtataaggtAGATCGAGACCCGACGC chr16:89970383-Alternative-T;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Reference C ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga ATACGTATGTGC CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAatacgtatgtgcAGATCGAGACCCGACGC chr16:89970383-Reference-C;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative A ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga AACTCGTTACGA CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAaactcgttacgaAGATCGAGACCCGACGC chr16:89970383-Alternative-A;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative A ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CATAGTGGCATT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAcatagtggcattAGATCGAGACCCGACGC chr16:89970383-Alternative-A;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Reference C ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga ACATCTGCCACG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAacatctgccacgAGATCGAGACCCGACGC chr16:89970383-Reference-C;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative T ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GTACGAGTGTGG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAgtacgagtgtggAGATCGAGACCCGACGC chr16:89970383-Alternative-T;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Variant G ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GCAATCGCGTGA CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAgcaatcgcgtgaAGATCGAGACCCGACGC chr16:89970383-Variant-G;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative A ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga AACGTCCGTCGA CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAaacgtccgtcgaAGATCGAGACCCGACGC chr16:89970383-Alternative-A;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative A ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GAGTGTAGCCGT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagAaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAgagtgtagccgtAGATCGAGACCCGACGC chr16:89970383-Alternative-A;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Reference C ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga AGACCGCGAATA CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAagaccgcgaataAGATCGAGACCCGACGC chr16:89970383-Reference-C;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Alternative T ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga ATCAACGTAACG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagTaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAatcaacgtaacgAGATCGAGACCCGACGC chr16:89970383-Alternative-T;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Variant G ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CTGAAGGTGACG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAActgaaggtgacgAGATCGAGACCCGACGC chr16:89970383-Variant-G;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Variant G ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CTTAATGGACGC CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAActtaatggacgcAGATCGAGACCCGACGC chr16:89970383-Variant-G;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Variant G ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga AGCTGTTAATCG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAagctgttaatcgAGATCGAGACCCGACGC chr16:89970383-Variant-G;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Variant G ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga GGCGTATGGTGT CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagGaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAggcgtatggtgtAGATCGAGACCCGACGC chr16:89970383-Variant-G;Patient-80 chr16:89970383-CG DeNovo Patient-80 intronic TCF25 NA 9.47e-05 -0.06 1.83 -3.02 TCF25 30388 Reference C ctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtga CGGCTAATAGCG CGACGCGGTCTCTCTCTctcagaccctgggcacgccagcagcagcaactcagaataccacccggaagCaagccgctggccctgcagactctccaccttagaacagctgtgtctgtgaAGAGGGAGACGGACGTCTCAATAAcggctaatagcgAGATCGAGACCCGACGC chr16:89970383-Reference-C;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative G gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CTCTATCCAACA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAActctatccaacaAGATCGAGACCCGACGC chr16:89983569-Alternative-G;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative G gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GGTCTGTTCGAG CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAggtctgttcgagAGATCGAGACCCGACGC chr16:89983569-Alternative-G;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative T gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctga ACGCTTACAGTT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAacgcttacagttAGATCGAGACCCGACGC chr16:89983569-Alternative-T;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative T gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CGACCGATTGGT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAcgaccgattggtAGATCGAGACCCGACGC chr16:89983569-Alternative-T;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative G gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GCGGCTCATGAT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAgcggctcatgatAGATCGAGACCCGACGC chr16:89983569-Alternative-G;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative G gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctga ACGTTAAGTAGG CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAacgttaagtaggAGATCGAGACCCGACGC chr16:89983569-Alternative-G;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Reference A gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctga AGATTCGCCTAA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAagattcgcctaaAGATCGAGACCCGACGC chr16:89983569-Reference-A;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative T gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GTAGGTGGTATA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAgtaggtggtataAGATCGAGACCCGACGC chr16:89983569-Alternative-T;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative T gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctga AGAGCTCACCGA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAagagctcaccgaAGATCGAGACCCGACGC chr16:89983569-Alternative-T;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Reference A gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GCGTATGACGCA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAgcgtatgacgcaAGATCGAGACCCGACGC chr16:89983569-Reference-A;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Variant C gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctga ACTAGTACCTGA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAactagtacctgaAGATCGAGACCCGACGC chr16:89983569-Variant-C;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Reference A gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GTCGCAAGTCAA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAgtcgcaagtcaaAGATCGAGACCCGACGC chr16:89983569-Reference-A;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Reference A gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CAATAGGCTGCG CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAcaataggctgcgAGATCGAGACCCGACGC chr16:89983569-Reference-A;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative G gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GGTCGGAGTGTT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttGgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAggtcggagtgttAGATCGAGACCCGACGC chr16:89983569-Alternative-G;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Reference A gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CGATAGATACGA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttAgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAcgatagatacgaAGATCGAGACCCGACGC chr16:89983569-Reference-A;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Variant C gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CATCATTCGCAT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAcatcattcgcatAGATCGAGACCCGACGC chr16:89983569-Variant-C;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Variant C gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctga ATCATAGCCTGA CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAatcatagcctgaAGATCGAGACCCGACGC chr16:89983569-Variant-C;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Alternative T gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctga ATTAACTGGCGC CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttTgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAattaactggcgcAGATCGAGACCCGACGC chr16:89983569-Alternative-T;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Variant C gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctga CGACAGCTTGAC CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAcgacagcttgacAGATCGAGACCCGACGC chr16:89983569-Variant-C;Patient-80 chr16:89983569-AC DeNovo Patient-80 intergenic NA 3.84e-05 0.08 4.01 0.05 TCF25 43574 Variant C gctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctga GGACGTCTGACT CGACGCGGTCTCTCTCTgctgggattataggcgtgcgccaccacgcctggctgatttttgtatttttCgtagagatggagtttcaccatattacccaagctggtcttgaactcctgaAGAGGGAGACGGACGTCTCAATAAggacgtctgactAGATCGAGACCCGACGC chr16:89983569-Variant-C;Patient-80 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Reference C gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GTCGACGAGAGT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAgtcgacgagagtAGATCGAGACCCGACGC chr16:9053081-Reference-C;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative A gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ACCTTAGTCGAA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAaccttagtcgaaAGATCGAGACCCGACGC chr16:9053081-Alternative-A;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Reference C gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat AGGTTCAACGTT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAaggttcaacgttAGATCGAGACCCGACGC chr16:9053081-Reference-C;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative A gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ATCACGCGGTAA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAatcacgcggtaaAGATCGAGACCCGACGC chr16:9053081-Alternative-A;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative A gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GTAACAAGCGTT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAgtaacaagcgttAGATCGAGACCCGACGC chr16:9053081-Alternative-A;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Reference C gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat CGTGTACGTGGT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAcgtgtacgtggtAGATCGAGACCCGACGC chr16:9053081-Reference-C;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative A gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat CATCGACGTATA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAcatcgacgtataAGATCGAGACCCGACGC chr16:9053081-Alternative-A;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative A gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GGTGATCTAACT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaAagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAggtgatctaactAGATCGAGACCCGACGC chr16:9053081-Alternative-A;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Variant T gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GCCACCGTTACA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAgccaccgttacaAGATCGAGACCCGACGC chr16:9053081-Variant-T;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Reference C gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ACCGTATTACGA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAaccgtattacgaAGATCGAGACCCGACGC chr16:9053081-Reference-C;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Reference C gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ACGTGAATTCGC CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaCagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAacgtgaattcgcAGATCGAGACCCGACGC chr16:9053081-Reference-C;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative G gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat CACGAGATGTTC CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAcacgagatgttcAGATCGAGACCCGACGC chr16:9053081-Alternative-G;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Variant T gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GTTCCTAGTGAA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAgttcctagtgaaAGATCGAGACCCGACGC chr16:9053081-Variant-T;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative G gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat AAGATGCGTCAT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAaagatgcgtcatAGATCGAGACCCGACGC chr16:9053081-Alternative-G;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Variant T gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat AGACGAGACAGT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAagacgagacagtAGATCGAGACCCGACGC chr16:9053081-Variant-T;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Variant T gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ACGTTCCTAAGT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAacgttcctaagtAGATCGAGACCCGACGC chr16:9053081-Variant-T;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Variant T gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ATTAATCGCGCA CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaTagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAattaatcgcgcaAGATCGAGACCCGACGC chr16:9053081-Variant-T;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative G gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat ACTAACGCGTCG CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAactaacgcgtcgAGATCGAGACCCGACGC chr16:9053081-Alternative-G;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative G gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat CGTTGGACGAAG CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAcgttggacgaagAGATCGAGACCCGACGC chr16:9053081-Alternative-G;Patient-54 chr16:9053081-CT Inherited Patient-54 intronic USP7 0.000319 9.9e-05 0.03 3.05 -0.66 USP7 4259 Alternative G gatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaat GAGCTCGGAGAT CGACGCGGTCTCTCTCTgatggagaaactgaggaaccaagagcttaagcaatgtgcattaggtcccaGagcaattagatggcaaaacccagattcaaacccaggcatggctctaaatAGAGGGAGACGGACGTCTCAATAAgagctcggagatAGATCGAGACCCGACGC chr16:9053081-Alternative-G;Patient-54 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Variant A ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ACACGGAATCAA CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAacacggaatcaaAGATCGAGACCCGACGC chr17:10355661-Variant-A;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative T ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AGTGTCTACGAT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAagtgtctacgatAGATCGAGACCCGACGC chr17:10355661-Alternative-T;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative C ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga GACGCACGCTTA CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAgacgcacgcttaAGATCGAGACCCGACGC chr17:10355661-Alternative-C;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative C ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ACTAAGCCGAAG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAactaagccgaagAGATCGAGACCCGACGC chr17:10355661-Alternative-C;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Variant A ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ACGTCAGGCCTT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAacgtcaggccttAGATCGAGACCCGACGC chr17:10355661-Variant-A;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Variant A ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ACCAATGGATCG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAaccaatggatcgAGATCGAGACCCGACGC chr17:10355661-Variant-A;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Variant A ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga CTGGCAGTTGGT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAActggcagttggtAGATCGAGACCCGACGC chr17:10355661-Variant-A;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Reference G ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga CTACGCGAAGAT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAActacgcgaagatAGATCGAGACCCGACGC chr17:10355661-Reference-G;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative T ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga CGTTCGTTCCGA CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAcgttcgttccgaAGATCGAGACCCGACGC chr17:10355661-Alternative-T;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative C ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AAGACGCTCCGT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAaagacgctccgtAGATCGAGACCCGACGC chr17:10355661-Alternative-C;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative C ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga CGAAGGCACCAT CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAcgaaggcaccatAGATCGAGACCCGACGC chr17:10355661-Alternative-C;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative C ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga GTTGATCCGTAA CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatCtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAgttgatccgtaaAGATCGAGACCCGACGC chr17:10355661-Alternative-C;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Reference G ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AGCGCGTATCAG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAagcgcgtatcagAGATCGAGACCCGACGC chr17:10355661-Reference-G;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative T ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AACCGACTTACA CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAaaccgacttacaAGATCGAGACCCGACGC chr17:10355661-Alternative-T;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative T ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AAGTTATCGCAC CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAaagttatcgcacAGATCGAGACCCGACGC chr17:10355661-Alternative-T;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Alternative T ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga GACGGTCTAACC CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatTtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAgacggtctaaccAGATCGAGACCCGACGC chr17:10355661-Alternative-T;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Reference G ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ATTGCGAGCGAG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAattgcgagcgagAGATCGAGACCCGACGC chr17:10355661-Reference-G;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Variant A ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga ATACGATCGTGG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatAtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAatacgatcgtggAGATCGAGACCCGACGC chr17:10355661-Variant-A;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Reference G ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga CAACCGAGGTAC CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAcaaccgaggtacAGATCGAGACCCGACGC chr17:10355661-Reference-G;Patient-2 chr17:10355661-GA DeNovo Patient-2 intronic MYH4 NA 9.9e-05 -0.07 1.68 -0.46 MYH4 17214 Reference G ctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccaga AATGACACCGCG CGACGCGGTCTCTCTCTctgcctcgatttcctcctccagctcctcaatgcgggcctggttgtgatatGtcaacattaatgtgaatttatgtcagttttgtttcctgtaatgcccagaAGAGGGAGACGGACGTCTCAATAAaatgacaccgcgAGATCGAGACCCGACGC chr17:10355661-Reference-G;Patient-2 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative G acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GCCTGACTATCG CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgcctgactatcgAGATCGAGACCCGACGC chr17:1064259-Alternative-G;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative G acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct CGTGTGGTACAC CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAcgtgtggtacacAGATCGAGACCCGACGC chr17:1064259-Alternative-G;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative G acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct CTGCGTCACGAT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAActgcgtcacgatAGATCGAGACCCGACGC chr17:1064259-Alternative-G;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Reference T acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GAGTTGTGTATC CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgagttgtgtatcAGATCGAGACCCGACGC chr17:1064259-Reference-T;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Reference T acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct CGCCTGGAACAT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAcgcctggaacatAGATCGAGACCCGACGC chr17:1064259-Reference-T;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative G acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct ATAGTACCGTGT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAatagtaccgtgtAGATCGAGACCCGACGC chr17:1064259-Alternative-G;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative A acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GTTCGTCGTATT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgttcgtcgtattAGATCGAGACCCGACGC chr17:1064259-Alternative-A;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Reference T acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct CACTAGTGCCGT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAcactagtgccgtAGATCGAGACCCGACGC chr17:1064259-Reference-T;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Reference T acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct CAGATCATGCAC CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAcagatcatgcacAGATCGAGACCCGACGC chr17:1064259-Reference-T;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative G acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GCAGGATTCCAA CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcGgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgcaggattccaaAGATCGAGACCCGACGC chr17:1064259-Alternative-G;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Reference T acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct ACCGTGCAGACT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcTgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAaccgtgcagactAGATCGAGACCCGACGC chr17:1064259-Reference-T;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative A acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GAGTAACTATGG CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgagtaactatggAGATCGAGACCCGACGC chr17:1064259-Alternative-A;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative A acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GGTTGGATTCAA CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAggttggattcaaAGATCGAGACCCGACGC chr17:1064259-Alternative-A;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative A acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GATCGCCTATAA CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgatcgcctataaAGATCGAGACCCGACGC chr17:1064259-Alternative-A;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Variant C acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GCATGACTTAAG CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAgcatgacttaagAGATCGAGACCCGACGC chr17:1064259-Variant-C;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Alternative A acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GGACTTCGCAGT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcAgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAggacttcgcagtAGATCGAGACCCGACGC chr17:1064259-Alternative-A;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Variant C acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct GGCTGAATTCGC CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAggctgaattcgcAGATCGAGACCCGACGC chr17:1064259-Variant-C;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Variant C acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct ACGCCTACGAAT CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAacgcctacgaatAGATCGAGACCCGACGC chr17:1064259-Variant-C;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Variant C acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct ACGACTGCCATA CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAacgactgccataAGATCGAGACCCGACGC chr17:1064259-Variant-C;Patient-58 chr17:1064259-TC DeNovo Patient-58 intronic ABR NA 0.000198 0.28 7.01 2.22 ABR 26356 Variant C acgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccct AATGGCGAACGA CGACGCGGTCTCTCTCTacgtcactccatcgagccttgctctctggccccgccacctgtacgagtgcCgcagacggtgccttctgagggaagcgggcaggtgtcgctggaccgccctAGAGGGAGACGGACGTCTCAATAAaatggcgaacgaAGATCGAGACCCGACGC chr17:1064259-Variant-C;Patient-58 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative G aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GTCTATACGGCG CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAgtctatacggcgAGATCGAGACCCGACGC chr17:11225920-Alternative-G;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative G aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AGCGGCTACATT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAagcggctacattAGATCGAGACCCGACGC chr17:11225920-Alternative-G;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative G aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AGGTTGAGTGCG CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAaggttgagtgcgAGATCGAGACCCGACGC chr17:11225920-Alternative-G;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative G aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GGTAAGGCCATC CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAggtaaggccatcAGATCGAGACCCGACGC chr17:11225920-Alternative-G;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative G aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GTACAAGGTACG CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccGatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAgtacaaggtacgAGATCGAGACCCGACGC chr17:11225920-Alternative-G;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Reference T aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GATACCGTAGTT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAgataccgtagttAGATCGAGACCCGACGC chr17:11225920-Reference-T;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Reference T aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgca CGACGTCAACAT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAcgacgtcaacatAGATCGAGACCCGACGC chr17:11225920-Reference-T;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Reference T aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AATGGACTACGC CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAaatggactacgcAGATCGAGACCCGACGC chr17:11225920-Reference-T;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Reference T aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgca CTAGTTGTGGAT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAActagttgtggatAGATCGAGACCCGACGC chr17:11225920-Reference-T;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Reference T aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AACCGGCCTGAT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccTatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAaaccggcctgatAGATCGAGACCCGACGC chr17:11225920-Reference-T;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Variant C aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GGTAGTCTCGCA CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAggtagtctcgcaAGATCGAGACCCGACGC chr17:11225920-Variant-C;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Variant C aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgca ATCCGCGAGTTA CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAatccgcgagttaAGATCGAGACCCGACGC chr17:11225920-Variant-C;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative A aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GGTAATGATCGT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAggtaatgatcgtAGATCGAGACCCGACGC chr17:11225920-Alternative-A;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative A aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgca CATAATCGAAGG CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAcataatcgaaggAGATCGAGACCCGACGC chr17:11225920-Alternative-A;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Variant C aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgca GCACGGCTAGTT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAgcacggctagttAGATCGAGACCCGACGC chr17:11225920-Variant-C;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative A aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgca ATCCTCTCAAGG CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAatcctctcaaggAGATCGAGACCCGACGC chr17:11225920-Alternative-A;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative A aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AGATCAATCCGT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAagatcaatccgtAGATCGAGACCCGACGC chr17:11225920-Alternative-A;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Variant C aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgca AGATGCGTAACA CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAagatgcgtaacaAGATCGAGACCCGACGC chr17:11225920-Variant-C;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Variant C aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgca ATCCGTCGTCGT CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccCatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAatccgtcgtcgtAGATCGAGACCCGACGC chr17:11225920-Variant-C;Patient-25 chr17:11225920-TC Inherited Patient-25 intronic SHISA6 0.00035 0.000247451 0.96 13.01 3.37 SHISA6 81179 Alternative A aaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgca CAGATGTTCGGC CGACGCGGTCTCTCTCTaaaagttgcgaaggacatgctgaggacttgagatactggcatacaattccAatttagttatactagaatcaaaaacctaacttgtattaattaatttgcaAGAGGGAGACGGACGTCTCAATAAcagatgttcggcAGATCGAGACCCGACGC chr17:11225920-Alternative-A;Patient-25 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Reference G tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag GACATTAGTACC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAgacattagtaccAGATCGAGACCCGACGC chr17:1304610-Reference-G;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative A tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CATTGCGACGAC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcattgcgacgacAGATCGAGACCCGACGC chr17:1304610-Alternative-A;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative T tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CATCAGACTCGA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcatcagactcgaAGATCGAGACCCGACGC chr17:1304610-Alternative-T;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative A tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag ACGTCGCATAGT CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAacgtcgcatagtAGATCGAGACCCGACGC chr17:1304610-Alternative-A;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative A tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag AGCTTACGCCGA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAagcttacgccgaAGATCGAGACCCGACGC chr17:1304610-Alternative-A;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative T tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag AGACTACCATCA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAagactaccatcaAGATCGAGACCCGACGC chr17:1304610-Alternative-T;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative T tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag ATTATATCGCGC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAattatatcgcgcAGATCGAGACCCGACGC chr17:1304610-Alternative-T;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative A tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag GGAATGAAGCTA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAggaatgaagctaAGATCGAGACCCGACGC chr17:1304610-Alternative-A;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative T tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag AGTCATAAGCGA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAagtcataagcgaAGATCGAGACCCGACGC chr17:1304610-Alternative-T;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative A tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CGATCTGCGGAA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgAgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcgatctgcggaaAGATCGAGACCCGACGC chr17:1304610-Alternative-A;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Variant C tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CAACTCCGAACT CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcaactccgaactAGATCGAGACCCGACGC chr17:1304610-Variant-C;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Variant C tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CGCGACGTAAGA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcgcgacgtaagaAGATCGAGACCCGACGC chr17:1304610-Variant-C;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Reference G tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag AGCTACTATCGC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAagctactatcgcAGATCGAGACCCGACGC chr17:1304610-Reference-G;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Variant C tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag GACATGGCTAAC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAgacatggctaacAGATCGAGACCCGACGC chr17:1304610-Variant-C;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Alternative T tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag ACTCGCACAGCA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgTgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAactcgcacagcaAGATCGAGACCCGACGC chr17:1304610-Alternative-T;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Variant C tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag GGAGAAGCGTAC CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAggagaagcgtacAGATCGAGACCCGACGC chr17:1304610-Variant-C;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Variant C tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag GGTAACGTATGA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgCgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAggtaacgtatgaAGATCGAGACCCGACGC chr17:1304610-Variant-C;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Reference G tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag ACAAGCGCTGCA CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAacaagcgctgcaAGATCGAGACCCGACGC chr17:1304610-Reference-G;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Reference G tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag ACGCCTTCTGAG CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAacgccttctgagAGATCGAGACCCGACGC chr17:1304610-Reference-G;Patient-54 chr17:1304610-GC Inherited Patient-54 intergenic 0.000287 0.000513 -0.23 0.6 0.15 YWHAE 1053 Reference G tgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcag CGATACTGGACG CGACGCGGTCTCTCTCTtgagactgtgtttcaaaagaaaaattatatatatatacaaaaattagctgGgcgtggtggtgcatgcctgtaatcccagctactccagaggctgaggcagAGAGGGAGACGGACGTCTCAATAAcgatactggacgAGATCGAGACCCGACGC chr17:1304610-Reference-G;Patient-54 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative G gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CTAACAGGCGTC CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAActaacaggcgtcAGATCGAGACCCGACGC chr17:1322700-Alternative-G;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Reference T gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg GTTAACGTTCGC CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAgttaacgttcgcAGATCGAGACCCGACGC chr17:1322700-Reference-T;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative G gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CGTGAACGTCAC CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcgtgaacgtcacAGATCGAGACCCGACGC chr17:1322700-Alternative-G;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Variant A gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg GCGTATCCAACG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAgcgtatccaacgAGATCGAGACCCGACGC chr17:1322700-Variant-A;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Reference T gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg AATACGTGCGCG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAaatacgtgcgcgAGATCGAGACCCGACGC chr17:1322700-Reference-T;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative G gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg AGTCGCTCGCTT CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAagtcgctcgcttAGATCGAGACCCGACGC chr17:1322700-Alternative-G;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative G gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg AACGTAGCGGCA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAaacgtagcggcaAGATCGAGACCCGACGC chr17:1322700-Alternative-G;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Variant A gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg GCCGTACCTCAA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAgccgtacctcaaAGATCGAGACCCGACGC chr17:1322700-Variant-A;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Variant A gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg ACGTGCAACGAG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAacgtgcaacgagAGATCGAGACCCGACGC chr17:1322700-Variant-A;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Reference T gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CATTGATAGCCA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcattgatagccaAGATCGAGACCCGACGC chr17:1322700-Reference-T;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative G gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CTGTCGTTGTCG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatGcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAActgtcgttgtcgAGATCGAGACCCGACGC chr17:1322700-Alternative-G;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Reference T gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg ACGCTTGGTCGA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAacgcttggtcgaAGATCGAGACCCGACGC chr17:1322700-Reference-T;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Reference T gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg ATCCTAGTCTGT CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatTcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAatcctagtctgtAGATCGAGACCCGACGC chr17:1322700-Reference-T;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative C gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg GCGCTACGTAAG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAgcgctacgtaagAGATCGAGACCCGACGC chr17:1322700-Alternative-C;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative C gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg ACTATGACCATC CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAactatgaccatcAGATCGAGACCCGACGC chr17:1322700-Alternative-C;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Variant A gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CATAGGCTGTCA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcataggctgtcaAGATCGAGACCCGACGC chr17:1322700-Variant-A;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Variant A gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg GCGTAGTACAAG CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatAcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAgcgtagtacaagAGATCGAGACCCGACGC chr17:1322700-Variant-A;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative C gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CGCACTCGACTA CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcgcactcgactaAGATCGAGACCCGACGC chr17:1322700-Alternative-C;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative C gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CGAATGCGCAAT CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcgaatgcgcaatAGATCGAGACCCGACGC chr17:1322700-Alternative-C;Patient-28 chr17:1322700-TA DeNovo Patient-28 intergenic NA 0.000513 -0.36 0.24 -0.64 MYO1C 73405 Alternative C gttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcgg CGCGCCAATCAT CGACGCGGTCTCTCTCTgttccagaccagcctgaccaacatggagaaatcccgtttctactaaaaatCcaaaattagccgggcatggtggcgcatgcctgtaatcccagctactcggAGAGGGAGACGGACGTCTCAATAAcgcgccaatcatAGATCGAGACCCGACGC chr17:1322700-Alternative-C;Patient-28 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative G gactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GACCGGCCAATA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAgaccggccaataAGATCGAGACCCGACGC chr17:1357900-Alternative-G;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative T gactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct ACGTCGATGACT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAacgtcgatgactAGATCGAGACCCGACGC chr17:1357900-Alternative-T;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative G gactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct ACGTGCTGACGT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAacgtgctgacgtAGATCGAGACCCGACGC chr17:1357900-Alternative-G;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative G gactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CGCACCTACATT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcgcacctacattAGATCGAGACCCGACGC chr17:1357900-Alternative-G;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative T gactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CGAACCAGATGC CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcgaaccagatgcAGATCGAGACCCGACGC chr17:1357900-Alternative-T;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative T gactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CTCGTAGCAACG CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAActcgtagcaacgAGATCGAGACCCGACGC chr17:1357900-Alternative-T;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative T gactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GATGGACGAGCT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAgatggacgagctAGATCGAGACCCGACGC chr17:1357900-Alternative-T;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative G gactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct ACTAGACATTCG CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAactagacattcgAGATCGAGACCCGACGC chr17:1357900-Alternative-G;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative G gactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GCGATAACAACA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattGgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAgcgataacaacaAGATCGAGACCCGACGC chr17:1357900-Alternative-G;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Alternative T gactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GGACATGTCGAG CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattTgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAggacatgtcgagAGATCGAGACCCGACGC chr17:1357900-Alternative-T;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Reference A gactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CATTCGTTAAGG CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcattcgttaaggAGATCGAGACCCGACGC chr17:1357900-Reference-A;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Variant C gactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GGATCGAGGTAC CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAggatcgaggtacAGATCGAGACCCGACGC chr17:1357900-Variant-C;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Variant C gactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CACATCAGGTCA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcacatcaggtcaAGATCGAGACCCGACGC chr17:1357900-Variant-C;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Variant C gactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CAACGTGCCGTT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcaacgtgccgttAGATCGAGACCCGACGC chr17:1357900-Variant-C;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Variant C gactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CATAGACGGCGA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcatagacggcgaAGATCGAGACCCGACGC chr17:1357900-Variant-C;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Variant C gactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CGGCTCATAGGT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattCgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcggctcataggtAGATCGAGACCCGACGC chr17:1357900-Variant-C;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Reference A gactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GAAGTGACCGTT CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAgaagtgaccgttAGATCGAGACCCGACGC chr17:1357900-Reference-A;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Reference A gactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct CGCAGATCACGA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAcgcagatcacgaAGATCGAGACCCGACGC chr17:1357900-Reference-A;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Reference A gactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct GAAGATGGAACA CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAgaagatggaacaAGATCGAGACCCGACGC chr17:1357900-Reference-A;Patient-19 chr17:1357900-AC DeNovo Patient-19 intronic CRK NA 4.95e-05 0.36 7.92 2.74 CRK 1660 Reference A gactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcct AAGTACTCCTTC CGACGCGGTCTCTCTCTgactgcctatccaattctctatttctggccggagcgagtaaatctaaattAgaactattctacaagggcaagtctacaaaggacggctcaagagcttcctAGAGGGAGACGGACGTCTCAATAAaagtactccttcAGATCGAGACCCGACGC chr17:1357900-Reference-A;Patient-19 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative C agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgct GGTGGAGATTAT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAggtggagattatAGATCGAGACCCGACGC chr17:14148192-Alternative-C;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative C agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgct AGGCTCCGACTA CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAaggctccgactaAGATCGAGACCCGACGC chr17:14148192-Alternative-C;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Reference A agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgct CGCTAACTATGT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAcgctaactatgtAGATCGAGACCCGACGC chr17:14148192-Reference-A;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative C agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgct AACGTGCGGCTT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAaacgtgcggcttAGATCGAGACCCGACGC chr17:14148192-Alternative-C;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Reference A agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgct CACGCTAACATT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAcacgctaacattAGATCGAGACCCGACGC chr17:14148192-Reference-A;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative C agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgct GTAGCGTACTAA CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgtagcgtactaaAGATCGAGACCCGACGC chr17:14148192-Alternative-C;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Reference A agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgct CTATCGCGCTGT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAActatcgcgctgtAGATCGAGACCCGACGC chr17:14148192-Reference-A;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Reference A agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgct GATTAGCGTCAT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgattagcgtcatAGATCGAGACCCGACGC chr17:14148192-Reference-A;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative C agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgct GGTCTGAACGCT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaCttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAggtctgaacgctAGATCGAGACCCGACGC chr17:14148192-Alternative-C;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Reference A agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgct CTTATGTACCGT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaAttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAActtatgtaccgtAGATCGAGACCCGACGC chr17:14148192-Reference-A;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative T agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgct GCGATCTTCGCT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgcgatcttcgctAGATCGAGACCCGACGC chr17:14148192-Alternative-T;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative T agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgct ACGTGAGAATCA CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAacgtgagaatcaAGATCGAGACCCGACGC chr17:14148192-Alternative-T;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative T agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgct GGTGTTGTCTGG CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAggtgttgtctggAGATCGAGACCCGACGC chr17:14148192-Alternative-T;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Variant G agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgct GTACCAGATGGT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgtaccagatggtAGATCGAGACCCGACGC chr17:14148192-Variant-G;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative T agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgct AGCGCATTGTAA CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAagcgcattgtaaAGATCGAGACCCGACGC chr17:14148192-Alternative-T;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Variant G agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgct ATCTGTCAAGCT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAatctgtcaagctAGATCGAGACCCGACGC chr17:14148192-Variant-G;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Variant G agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgct CTGAAGCGAATC CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAActgaagcgaatcAGATCGAGACCCGACGC chr17:14148192-Variant-G;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Alternative T agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgct GTTCGACGCGTT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaTttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgttcgacgcgttAGATCGAGACCCGACGC chr17:14148192-Alternative-T;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Variant G agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgct GTCAAGTGTCGT CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAgtcaagtgtcgtAGATCGAGACCCGACGC chr17:14148192-Variant-G;Patient-40 chr17:14148192-AG DeNovo Patient-40 intergenic NA 0.000512821 -0.08 1.55 -0.84 HS3ST3B1 56207 Variant G agagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgct GGTGAATGACCG CGACGCGGTCTCTCTCTagagttctatatatgtctctttgttcaagcttgttaattatgttgcctcaGttgtctatttaattactaatttttgtctatataactactgatttctgctAGAGGGAGACGGACGTCTCAATAAggtgaatgaccgAGATCGAGACCCGACGC chr17:14148192-Variant-G;Patient-40 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative G actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat AGGTGTACGAAT CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAaggtgtacgaatAGATCGAGACCCGACGC chr17:15144104-Alternative-G;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Reference T actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat ACGAAGTGAGAA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAacgaagtgagaaAGATCGAGACCCGACGC chr17:15144104-Reference-T;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative A actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CTACAATGTCAC CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAActacaatgtcacAGATCGAGACCCGACGC chr17:15144104-Alternative-A;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative A actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat GCATGCATATAC CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAgcatgcatatacAGATCGAGACCCGACGC chr17:15144104-Alternative-A;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative G actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat ACCGTCTATCTA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAaccgtctatctaAGATCGAGACCCGACGC chr17:15144104-Alternative-G;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Reference T actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat AAGATCGGCATA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAaagatcggcataAGATCGAGACCCGACGC chr17:15144104-Reference-T;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Variant C actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CGATCTTCCTGG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAcgatcttcctggAGATCGAGACCCGACGC chr17:15144104-Variant-C;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative A actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CAGTTGTAATCG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAcagttgtaatcgAGATCGAGACCCGACGC chr17:15144104-Alternative-A;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative G actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat GGAGATGGCTAA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAggagatggctaaAGATCGAGACCCGACGC chr17:15144104-Alternative-G;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative G actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat AGTAACGTCAAG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAagtaacgtcaagAGATCGAGACCCGACGC chr17:15144104-Alternative-G;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative G actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat GGCTCATGCACA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctGtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAggctcatgcacaAGATCGAGACCCGACGC chr17:15144104-Alternative-G;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative A actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat GAGTTGACGTTA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAgagttgacgttaAGATCGAGACCCGACGC chr17:15144104-Alternative-A;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Reference T actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CATGTGATAAGG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAcatgtgataaggAGATCGAGACCCGACGC chr17:15144104-Reference-T;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Reference T actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat ACGACGTCGATT CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAacgacgtcgattAGATCGAGACCCGACGC chr17:15144104-Reference-T;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Reference T actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat AGCGTCCTAGGT CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctTtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAagcgtcctaggtAGATCGAGACCCGACGC chr17:15144104-Reference-T;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Alternative A actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat AACAGATGCGGC CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctAtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAaacagatgcggcAGATCGAGACCCGACGC chr17:15144104-Alternative-A;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Variant C actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CGTGACGGCTTA CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAcgtgacggcttaAGATCGAGACCCGACGC chr17:15144104-Variant-C;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Variant C actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat ACTAGCTTCGCG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAactagcttcgcgAGATCGAGACCCGACGC chr17:15144104-Variant-C;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Variant C actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat CATCTATGCCGG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAcatctatgccggAGATCGAGACCCGACGC chr17:15144104-Variant-C;Patient-110 chr17:15144104-TC DeNovo Patient-110 intronic PMP22 NA 3.98e-05 0.04 3.24 0.08 PMP22 24569 Variant C actgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaat GAGATGACCTGG CGACGCGGTCTCTCTCTactgctctcatggaggaagggcaactggggaagctgcagcatttaatcctCtcagctcagtaactgccatatgtaatggcttcaaaagcataccttcaatAGAGGGAGACGGACGTCTCAATAAgagatgacctggAGATCGAGACCCGACGC chr17:15144104-Variant-C;Patient-110 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative G aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CGTAACGCGTCT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcgtaacgcgtctAGATCGAGACCCGACGC chr17:15147798-Alternative-G;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative A aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CGTTGGCGGTTA CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcgttggcggttaAGATCGAGACCCGACGC chr17:15147798-Alternative-A;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Variant C aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa AACGCGAGTTCG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAaacgcgagttcgAGATCGAGACCCGACGC chr17:15147798-Variant-C;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative A aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CAATACTTGCCG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcaatacttgccgAGATCGAGACCCGACGC chr17:15147798-Alternative-A;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative G aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa ACGACGGAGAAG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAacgacggagaagAGATCGAGACCCGACGC chr17:15147798-Alternative-G;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Variant C aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CTTGAACATCGA CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAActtgaacatcgaAGATCGAGACCCGACGC chr17:15147798-Variant-C;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative G aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GGACACCACAAC CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAggacaccacaacAGATCGAGACCCGACGC chr17:15147798-Alternative-G;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Reference T aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CAGTACGCTCGA CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcagtacgctcgaAGATCGAGACCCGACGC chr17:15147798-Reference-T;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative A aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa AGATACGCGCGT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAagatacgcgcgtAGATCGAGACCCGACGC chr17:15147798-Alternative-A;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative A aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GCAACAAGGTAA CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAgcaacaaggtaaAGATCGAGACCCGACGC chr17:15147798-Alternative-A;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Reference T aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GTGCGCATCACT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAgtgcgcatcactAGATCGAGACCCGACGC chr17:15147798-Reference-T;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative A aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CGCGAATTAGCG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcAactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcgcgaattagcgAGATCGAGACCCGACGC chr17:15147798-Alternative-A;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Reference T aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GCGCTAGGATGA CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAgcgctaggatgaAGATCGAGACCCGACGC chr17:15147798-Reference-T;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative G aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GGTATTCTGGCG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAggtattctggcgAGATCGAGACCCGACGC chr17:15147798-Alternative-G;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Variant C aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CGAGGTAGACAT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcgaggtagacatAGATCGAGACCCGACGC chr17:15147798-Variant-C;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Alternative G aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GGAACGTAACGC CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcGactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAggaacgtaacgcAGATCGAGACCCGACGC chr17:15147798-Alternative-G;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Variant C aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa CAAGTAGAACGC CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAcaagtagaacgcAGATCGAGACCCGACGC chr17:15147798-Variant-C;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Reference T aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa AACGCATTGGTT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAaacgcattggttAGATCGAGACCCGACGC chr17:15147798-Reference-T;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Reference T aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa ACTATGACCACG CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcTactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAactatgaccacgAGATCGAGACCCGACGC chr17:15147798-Reference-T;Patient-88 chr17:15147798-TC DeNovo Patient-88 intronic PMP22 NA 4.19e-05 -0.3 0.36 -4.99 PMP22 20875 Variant C aattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataa GATATTCCGGTT CGACGCGGTCTCTCTCTaattgtaacacctctagcgtaatgacactatatgtgttcaagtgcttatcCactatatcctggaaaaacagtgaacatatactcagaggaaaataaataaAGAGGGAGACGGACGTCTCAATAAgatattccggttAGATCGAGACCCGACGC chr17:15147798-Variant-C;Patient-88 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative T ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt CGTGCGCTCTAT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAcgtgcgctctatAGATCGAGACCCGACGC chr17:15802962-Alternative-T;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative T ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AATGCACACGAT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaatgcacacgatAGATCGAGACCCGACGC chr17:15802962-Alternative-T;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Reference A ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt CTAATGAGCGAA CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAActaatgagcgaaAGATCGAGACCCGACGC chr17:15802962-Reference-A;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative T ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt GTTACTGCCGGT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAgttactgccggtAGATCGAGACCCGACGC chr17:15802962-Alternative-T;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative T ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt GTAATCCGCACG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAgtaatccgcacgAGATCGAGACCCGACGC chr17:15802962-Alternative-T;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Reference A ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AACTTCGATCCT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaacttcgatcctAGATCGAGACCCGACGC chr17:15802962-Reference-A;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Reference A ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AACACGCGTCGA CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaacacgcgtcgaAGATCGAGACCCGACGC chr17:15802962-Reference-A;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Reference A ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AAGGTACCGAAC CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaaggtaccgaacAGATCGAGACCCGACGC chr17:15802962-Reference-A;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Variant G ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AATGGTTCCAGG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaatggttccaggAGATCGAGACCCGACGC chr17:15802962-Variant-G;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Reference A ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt ACGCTATACACT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccAtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAacgctatacactAGATCGAGACCCGACGC chr17:15802962-Reference-A;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative T ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AATCGCGATAAG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccTtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaatcgcgataagAGATCGAGACCCGACGC chr17:15802962-Alternative-T;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Variant G ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AAGAATGGAAGG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaagaatggaaggAGATCGAGACCCGACGC chr17:15802962-Variant-G;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative C ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt ATACGCGCTGAC CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAatacgcgctgacAGATCGAGACCCGACGC chr17:15802962-Alternative-C;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative C ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt CAAGATGTCTGT CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAcaagatgtctgtAGATCGAGACCCGACGC chr17:15802962-Alternative-C;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative C ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt ATTCATGCGCGC CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAattcatgcgcgcAGATCGAGACCCGACGC chr17:15802962-Alternative-C;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative C ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt ACCTGTATCACG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAacctgtatcacgAGATCGAGACCCGACGC chr17:15802962-Alternative-C;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Alternative C ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt CTTATTGGTAGG CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccCtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAActtattggtaggAGATCGAGACCCGACGC chr17:15802962-Alternative-C;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Variant G ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AGACGCTCATCA CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAagacgctcatcaAGATCGAGACCCGACGC chr17:15802962-Variant-G;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Variant G ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AACTCTTGGACA CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaactcttggacaAGATCGAGACCCGACGC chr17:15802962-Variant-G;Patient-89 chr17:15802962-AG Inherited Patient-89 intergenic 0.000638 0.00359 0.08 3.9 0.24 ADORA2B 45268 Variant G ccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatatt AAGATACTGCGA CGACGCGGTCTCTCTCTccattccctctcttgtagtccccagtgtctattgtcccatctttatgcccGtgactacccagtgtttagcgtcctcttgtaagtgaaaacatgcaatattAGAGGGAGACGGACGTCTCAATAAaagatactgcgaAGATCGAGACCCGACGC chr17:15802962-Variant-G;Patient-89 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Reference G tagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt AACTTCTGTCGT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAaacttctgtcgtAGATCGAGACCCGACGC chr17:16852575-Reference-G;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Variant T tagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CAACAATAGCGA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcaacaatagcgaAGATCGAGACCCGACGC chr17:16852575-Variant-T;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Reference G tagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt AGGTTCATGCGG CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAaggttcatgcggAGATCGAGACCCGACGC chr17:16852575-Reference-G;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Variant T tagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt GGATATGACGAT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAggatatgacgatAGATCGAGACCCGACGC chr17:16852575-Variant-T;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Variant T tagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CGACTCGTCCAT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcgactcgtccatAGATCGAGACCCGACGC chr17:16852575-Variant-T;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative C tagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CTCTGGCTATAT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAActctggctatatAGATCGAGACCCGACGC chr17:16852575-Alternative-C;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative C tagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CTGGCATATCGA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAActggcatatcgaAGATCGAGACCCGACGC chr17:16852575-Alternative-C;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Reference G tagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CTACCATGCGCA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAActaccatgcgcaAGATCGAGACCCGACGC chr17:16852575-Reference-G;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Reference G tagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt GAAGAGTACACG CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAgaagagtacacgAGATCGAGACCCGACGC chr17:16852575-Reference-G;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative C tagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt GATGGTGAACCT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAgatggtgaacctAGATCGAGACCCGACGC chr17:16852575-Alternative-C;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Reference G tagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt GTTGAGTTCACA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggGttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAgttgagttcacaAGATCGAGACCCGACGC chr17:16852575-Reference-G;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative C tagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt AGCATTGTAAGG CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAagcattgtaaggAGATCGAGACCCGACGC chr17:16852575-Alternative-C;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Variant T tagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt AAGATTGACGAC CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAaagattgacgacAGATCGAGACCCGACGC chr17:16852575-Variant-T;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative A tagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CATCAGGATAAC CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcatcaggataacAGATCGAGACCCGACGC chr17:16852575-Alternative-A;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative C tagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CAACGAGTATGA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggCttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcaacgagtatgaAGATCGAGACCCGACGC chr17:16852575-Alternative-C;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative A tagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt GCGAACAGTCGT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAgcgaacagtcgtAGATCGAGACCCGACGC chr17:16852575-Alternative-A;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Variant T tagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CATAACTCGTGA CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggTttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcataactcgtgaAGATCGAGACCCGACGC chr17:16852575-Variant-T;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative A tagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CAACGCTCAACG CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcaacgctcaacgAGATCGAGACCCGACGC chr17:16852575-Alternative-A;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative A tagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt CATCTTGTTGGT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAcatcttgttggtAGATCGAGACCCGACGC chr17:16852575-Alternative-A;Patient-105 chr17:16852575-GT DeNovo Patient-105 intronic TNFRSF13B NA 9.48e-05 -0.31 0.35 -2.62 TNFRSF13B 22826 Alternative A tagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagt ACCAACCAGATT CGACGCGGTCTCTCTCTtagatcaaaatgcacttatttttcattattatcttttctttgacctatggAttatttacaagtgcatttcttagtttccaaacgtatgaagattttcagtAGAGGGAGACGGACGTCTCAATAAaccaaccagattAGATCGAGACCCGACGC chr17:16852575-Alternative-A;Patient-105 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative C agcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattgg GACGTAGGATCG CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgacgtaggatcgAGATCGAGACCCGACGC chr17:17606829-Alternative-C;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative C agcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattgg GTCCGGTAGTAC CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgtccggtagtacAGATCGAGACCCGACGC chr17:17606829-Alternative-C;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative A agcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattgg CAATGTTCGACT CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAcaatgttcgactAGATCGAGACCCGACGC chr17:17606829-Alternative-A;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative A agcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattgg ACACGAGAATCA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAacacgagaatcaAGATCGAGACCCGACGC chr17:17606829-Alternative-A;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative A agcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattgg CAGATTCACGAC CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAcagattcacgacAGATCGAGACCCGACGC chr17:17606829-Alternative-A;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative A agcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattgg GTTACGCCTACC CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgttacgcctaccAGATCGAGACCCGACGC chr17:17606829-Alternative-A;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative A agcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattgg AGCCGACTTACG CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcAggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAagccgacttacgAGATCGAGACCCGACGC chr17:17606829-Alternative-A;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative C agcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattgg GACGCGATACGA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgacgcgatacgaAGATCGAGACCCGACGC chr17:17606829-Alternative-C;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Variant G agcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattgg AGCGGTGCGTAT CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAagcggtgcgtatAGATCGAGACCCGACGC chr17:17606829-Variant-G;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative C agcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattgg GTTCTGCGACGA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgttctgcgacgaAGATCGAGACCCGACGC chr17:17606829-Alternative-C;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Alternative C agcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattgg CAAGACCACAAG CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcCggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAcaagaccacaagAGATCGAGACCCGACGC chr17:17606829-Alternative-C;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Variant G agcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattgg GACTAGGTGAAC CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgactaggtgaacAGATCGAGACCCGACGC chr17:17606829-Variant-G;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Reference T agcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattgg CTGTGCGGATGA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAActgtgcggatgaAGATCGAGACCCGACGC chr17:17606829-Reference-T;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Variant G agcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattgg AGCCTGCGAATC CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAagcctgcgaatcAGATCGAGACCCGACGC chr17:17606829-Variant-G;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Reference T agcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattgg GCACCACACCTT CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAgcaccacaccttAGATCGAGACCCGACGC chr17:17606829-Reference-T;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Reference T agcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattgg AGAGTCATAAGG CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAagagtcataaggAGATCGAGACCCGACGC chr17:17606829-Reference-T;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Reference T agcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattgg GGAGATACGATT CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAggagatacgattAGATCGAGACCCGACGC chr17:17606829-Reference-T;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Reference T agcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattgg ATCGTAATGCGA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcTggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAatcgtaatgcgaAGATCGAGACCCGACGC chr17:17606829-Reference-T;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Variant G agcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattgg AGTATCTTGGCA CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAagtatcttggcaAGATCGAGACCCGACGC chr17:17606829-Variant-G;Patient-24 chr17:17606829-TG DeNovo Patient-24 intronic RAI1 NA 0.00016 0.02 3.01 0.12 RAI1 22041 Variant G agcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattgg ACCTACCAAGAT CGACGCGGTCTCTCTCTagcaggagttctcccataacctttttggggtggggacccacctgtggctcGggaaaggtgttggctccggctctggggctcagggggagggggccattggAGAGGGAGACGGACGTCTCAATAAacctaccaagatAGATCGAGACCCGACGC chr17:17606829-Variant-G;Patient-24 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Variant A cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg CGCGTGTTGAAC CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAcgcgtgttgaacAGATCGAGACCCGACGC chr17:17715280-Variant-A;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative C cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ACGTGAGAATGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAacgtgagaatgtAGATCGAGACCCGACGC chr17:17715280-Alternative-C;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Variant A cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GTGTCGTCTATT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgtgtcgtctattAGATCGAGACCCGACGC chr17:17715280-Variant-A;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Variant A cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg AACAACCGAATC CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAaacaaccgaatcAGATCGAGACCCGACGC chr17:17715280-Variant-A;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Reference T cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GAATAAGGAGGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgaataaggaggtAGATCGAGACCCGACGC chr17:17715280-Reference-T;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Variant A cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg AGTCGTACGTCG CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAagtcgtacgtcgAGATCGAGACCCGACGC chr17:17715280-Variant-A;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Variant A cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg AGAACCGAATGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtAgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAagaaccgaatgtAGATCGAGACCCGACGC chr17:17715280-Variant-A;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Reference T cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg AACCAACAGCGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAaaccaacagcgtAGATCGAGACCCGACGC chr17:17715280-Reference-T;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Reference T cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg CGCATAACTAGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAcgcataactagtAGATCGAGACCCGACGC chr17:17715280-Reference-T;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative G cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GTTCTATCGTCT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgttctatcgtctAGATCGAGACCCGACGC chr17:17715280-Alternative-G;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative G cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GACGTCGTTCGA CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgacgtcgttcgaAGATCGAGACCCGACGC chr17:17715280-Alternative-G;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative G cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ACGATCGCTCGA CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAacgatcgctcgaAGATCGAGACCCGACGC chr17:17715280-Alternative-G;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative C cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg AGTAACGCGTTA CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAagtaacgcgttaAGATCGAGACCCGACGC chr17:17715280-Alternative-C;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative C cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ATCGGACAAGTT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAatcggacaagttAGATCGAGACCCGACGC chr17:17715280-Alternative-C;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative G cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ACTATGACTGGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAactatgactggtAGATCGAGACCCGACGC chr17:17715280-Alternative-G;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Reference T cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GTGCTATTAGGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgtgctattaggtAGATCGAGACCCGACGC chr17:17715280-Reference-T;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Reference T cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GTATATACCGGT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtTgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgtatataccggtAGATCGAGACCCGACGC chr17:17715280-Reference-T;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative G cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg GTCCGGTCTGTT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtGgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAgtccggtctgttAGATCGAGACCCGACGC chr17:17715280-Alternative-G;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative C cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ATTCGCTGTGTT CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAattcgctgtgttAGATCGAGACCCGACGC chr17:17715280-Alternative-C;Patient-99 chr17:17715280-TA DeNovo Patient-99 3 prime UTR SREBF1 0.000377 0.000319 -0.1 1.41 -4.46 SREBF1 25044 Alternative C cccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctgg ACGTAGCGGTCA CGACGCGGTCTCTCTCTcccactcctcccactaacaaacaaacatcgggaagagctaagttaaaagtCgtgtaccttgtggccggagggggaggggaagcctttccctaggtgctggAGAGGGAGACGGACGTCTCAATAAacgtagcggtcaAGATCGAGACCCGACGC chr17:17715280-Alternative-C;Patient-99 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Variant T cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GCGTGATCCTGA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAgcgtgatcctgaAGATCGAGACCCGACGC chr17:17820627-Variant-T;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Variant T cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GCGGATGTAGTC CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAgcggatgtagtcAGATCGAGACCCGACGC chr17:17820627-Variant-T;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Variant T cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt ATTCAACCACAG CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAattcaaccacagAGATCGAGACCCGACGC chr17:17820627-Variant-T;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative A cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CACGTTGTGTGG CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAcacgttgtgtggAGATCGAGACCCGACGC chr17:17820627-Alternative-A;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Reference G cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CTGCGCATACGT CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAActgcgcatacgtAGATCGAGACCCGACGC chr17:17820627-Reference-G;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Variant T cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt AAGACTGAACGT CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAaagactgaacgtAGATCGAGACCCGACGC chr17:17820627-Variant-T;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative A cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GGTGCGGTTATC CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAggtgcggttatcAGATCGAGACCCGACGC chr17:17820627-Alternative-A;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Variant T cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt AGCCTTCGTCCA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcTacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAagccttcgtccaAGATCGAGACCCGACGC chr17:17820627-Variant-T;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative A cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CTCAAGGCCAAG CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAActcaaggccaagAGATCGAGACCCGACGC chr17:17820627-Alternative-A;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Reference G cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CTAGCTGACTAA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAActagctgactaaAGATCGAGACCCGACGC chr17:17820627-Reference-G;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative A cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CGGACCATAACG CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAcggaccataacgAGATCGAGACCCGACGC chr17:17820627-Alternative-A;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Reference G cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CTAACTCTAGCG CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAActaactctagcgAGATCGAGACCCGACGC chr17:17820627-Reference-G;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Reference G cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GCGAAGATATCA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAgcgaagatatcaAGATCGAGACCCGACGC chr17:17820627-Reference-G;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative A cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt AGTACGCTACGC CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcAacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAagtacgctacgcAGATCGAGACCCGACGC chr17:17820627-Alternative-A;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative C cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GGTTCGTACGAC CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAggttcgtacgacAGATCGAGACCCGACGC chr17:17820627-Alternative-C;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative C cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GTCGCTAGCGAA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAgtcgctagcgaaAGATCGAGACCCGACGC chr17:17820627-Alternative-C;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Reference G cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt AGTCATACGCCA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcGacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAagtcatacgccaAGATCGAGACCCGACGC chr17:17820627-Reference-G;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative C cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt CGACGATAGATA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAcgacgatagataAGATCGAGACCCGACGC chr17:17820627-Alternative-C;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative C cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt AGTACCACTTGA CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAagtaccacttgaAGATCGAGACCCGACGC chr17:17820627-Alternative-C;Patient-24 chr17:17820627-GT Inherited Patient-24 intronic TOM1L2 0.000544 0.000197961 0.02 2.9 0.11 TOM1L2 55156 Alternative C cagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaatt GCGAACACCAAC CGACGCGGTCTCTCTCTcagaggttgcaaaatgagccaaaatcacatcactgcactccagcctgggcCacagagcaagaccccatctcaaaaaaataaataaaaataaataaaaattAGAGGGAGACGGACGTCTCAATAAgcgaacaccaacAGATCGAGACCCGACGC chr17:17820627-Alternative-C;Patient-24 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative G taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt CGGCGTGTAAGT CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAcggcgtgtaagtAGATCGAGACCCGACGC chr17:18185306-Alternative-G;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative G taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AACGTCAACGTT CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaacgtcaacgttAGATCGAGACCCGACGC chr17:18185306-Alternative-G;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative G taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt GTGCTCTTATGT CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAgtgctcttatgtAGATCGAGACCCGACGC chr17:18185306-Alternative-G;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative G taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AAGATCGGTGCG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaagatcggtgcgAGATCGAGACCCGACGC chr17:18185306-Alternative-G;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Reference C taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ATCGACTCTGAA CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAatcgactctgaaAGATCGAGACCCGACGC chr17:18185306-Reference-C;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Variant T taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACTAGGCATTCA CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAactaggcattcaAGATCGAGACCCGACGC chr17:18185306-Variant-T;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative G taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt CGTGTTACGCGA CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacGagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAcgtgttacgcgaAGATCGAGACCCGACGC chr17:18185306-Alternative-G;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Variant T taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACTTCCAACAAG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAacttccaacaagAGATCGAGACCCGACGC chr17:18185306-Variant-T;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Variant T taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt GTTACTCAACGC CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAgttactcaacgcAGATCGAGACCCGACGC chr17:18185306-Variant-T;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative A taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACAGCTGTGTCG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAacagctgtgtcgAGATCGAGACCCGACGC chr17:18185306-Alternative-A;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Reference C taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AAGCACCTAACA CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaagcacctaacaAGATCGAGACCCGACGC chr17:18185306-Reference-C;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative A taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACGCTCTATTGT CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAacgctctattgtAGATCGAGACCCGACGC chr17:18185306-Alternative-A;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Variant T taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACTTCTAACGTC CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAacttctaacgtcAGATCGAGACCCGACGC chr17:18185306-Variant-T;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Variant T taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AATAGCTCGACT CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacTagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaatagctcgactAGATCGAGACCCGACGC chr17:18185306-Variant-T;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Reference C taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AGGCGTAGTAGG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaggcgtagtaggAGATCGAGACCCGACGC chr17:18185306-Reference-C;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative A taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt ACGTTATCGTTC CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAacgttatcgttcAGATCGAGACCCGACGC chr17:18185306-Alternative-A;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative A taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt CACGTTAGAACG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAcacgttagaacgAGATCGAGACCCGACGC chr17:18185306-Alternative-A;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Alternative A taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AAGACGGTTACA CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacAagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaagacggttacaAGATCGAGACCCGACGC chr17:18185306-Alternative-A;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Reference C taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt AATAAGTGTCGG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAaataagtgtcggAGATCGAGACCCGACGC chr17:18185306-Reference-C;Patient-54 chr17:18185306-CT Inherited Patient-54 intronic TOP3A NA 4.95e-05 0.07 3.8 0.78 FLII 23075 Reference C taggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgt CGTGATCCTACG CGACGCGGTCTCTCTCTtaggagaatgggatgaggtaatgcttacagagcaccaccctgcattacacCagtgagggacggcacctgatgaatgatggctgccacccctccacctcgtAGAGGGAGACGGACGTCTCAATAAcgtgatcctacgAGATCGAGACCCGACGC chr17:18185306-Reference-C;Patient-54 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Reference G aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGGAGTGGATT CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcggagtggattAGATCGAGACCCGACGC chr17:18247530-Reference-G;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Reference G aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt CTACGTACGGAC CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAActacgtacggacAGATCGAGACCCGACGC chr17:18247530-Reference-G;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative T aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGGATCATGCA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcggatcatgcaAGATCGAGACCCGACGC chr17:18247530-Alternative-T;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative T aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt ACGCACCATCAG CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAacgcaccatcagAGATCGAGACCCGACGC chr17:18247530-Alternative-T;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative T aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGGTGTTATCG CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcggtgttatcgAGATCGAGACCCGACGC chr17:18247530-Alternative-T;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative C aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGGCTCGATTA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcggctcgattaAGATCGAGACCCGACGC chr17:18247530-Alternative-C;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative T aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCATTGGAATGA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcattggaatgaAGATCGAGACCCGACGC chr17:18247530-Alternative-T;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative C aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGATCGCGTAA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcgatcgcgtaaAGATCGAGACCCGACGC chr17:18247530-Alternative-C;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Variant A aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GCGAAGTGGCAT CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgcgaagtggcatAGATCGAGACCCGACGC chr17:18247530-Variant-A;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Reference G aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt AGCGGTCCAATC CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAagcggtccaatcAGATCGAGACCCGACGC chr17:18247530-Reference-G;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Variant A aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt AGAACGTCTAAG CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAagaacgtctaagAGATCGAGACCCGACGC chr17:18247530-Variant-A;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative T aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GGTTGAGTTCGC CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcTggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAggttgagttcgcAGATCGAGACCCGACGC chr17:18247530-Alternative-T;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Reference G aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt CGTCCATAGTAA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAcgtccatagtaaAGATCGAGACCCGACGC chr17:18247530-Reference-G;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Variant A aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt ACGAGAGTACCT CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAacgagagtacctAGATCGAGACCCGACGC chr17:18247530-Variant-A;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Reference G aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt AAGGCAAGCTAA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcGggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAaaggcaagctaaAGATCGAGACCCGACGC chr17:18247530-Reference-G;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Variant A aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt CGAGAACGCTAT CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAcgagaacgctatAGATCGAGACCCGACGC chr17:18247530-Variant-A;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Variant A aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt AGCTTAGACCTA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcAggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAagcttagacctaAGATCGAGACCCGACGC chr17:18247530-Variant-A;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative C aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GTGAATCGACAC CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgtgaatcgacacAGATCGAGACCCGACGC chr17:18247530-Alternative-C;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative C aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt GTGACATGTTGT CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAgtgacatgttgtAGATCGAGACCCGACGC chr17:18247530-Alternative-C;Patient-25 chr17:18247530-GA Inherited Patient-25 intronic SHMT1 0.000191 4.95e-05 -0.51 0.08 -3.02 SHMT1 19325 Alternative C aaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggtt ACTCGCGTGAGA CGACGCGGTCTCTCTCTaaaaggcagttataatccaacccaactatagaagcttgccacaaggtttcCggaaccaagacctcatctagaaagtcaagctgaaagatgatttgtggttAGAGGGAGACGGACGTCTCAATAAactcgcgtgagaAGATCGAGACCCGACGC chr17:18247530-Alternative-C;Patient-25 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Reference T agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga ACTTGCCTAGAT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAacttgcctagatAGATCGAGACCCGACGC chr17:18310055-Reference-T;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Reference T agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GTGCTAATACGT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgtgctaatacgtAGATCGAGACCCGACGC chr17:18310055-Reference-T;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative G agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GTTGTAGTCGAT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgttgtagtcgatAGATCGAGACCCGACGC chr17:18310055-Alternative-G;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative G agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga CATCAGGCATCA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAcatcaggcatcaAGATCGAGACCCGACGC chr17:18310055-Alternative-G;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative G agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga ATCGGACTGAAT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAatcggactgaatAGATCGAGACCCGACGC chr17:18310055-Alternative-G;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative A agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga ATCACGACGAGT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAatcacgacgagtAGATCGAGACCCGACGC chr17:18310055-Alternative-A;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative A agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GCGAATGTAAGA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgcgaatgtaagaAGATCGAGACCCGACGC chr17:18310055-Alternative-A;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Reference T agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga AGCGGAGCAACA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAagcggagcaacaAGATCGAGACCCGACGC chr17:18310055-Reference-T;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative A agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GCCAAGATCGAC CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgccaagatcgacAGATCGAGACCCGACGC chr17:18310055-Alternative-A;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Reference T agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga CAGACGGACTAA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAcagacggactaaAGATCGAGACCCGACGC chr17:18310055-Reference-T;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative A agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga AGTACTTGGTCA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAagtacttggtcaAGATCGAGACCCGACGC chr17:18310055-Alternative-A;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative G agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GGCCGGTTGATA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAggccggttgataAGATCGAGACCCGACGC chr17:18310055-Alternative-G;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative G agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GAATGTAACGAG CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaGtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgaatgtaacgagAGATCGAGACCCGACGC chr17:18310055-Alternative-G;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Reference T agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga CGTTGTTCGTGC CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaTtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAcgttgttcgtgcAGATCGAGACCCGACGC chr17:18310055-Reference-T;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Variant C agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga AACGTGCTCCGA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAaacgtgctccgaAGATCGAGACCCGACGC chr17:18310055-Variant-C;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Alternative A agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GACCGTAATAAG CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaAtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgaccgtaataagAGATCGAGACCCGACGC chr17:18310055-Alternative-A;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Variant C agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GACGGCGGATAA CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAgacggcggataaAGATCGAGACCCGACGC chr17:18310055-Variant-C;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Variant C agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga GGTGGTCACCAT CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAggtggtcaccatAGATCGAGACCCGACGC chr17:18310055-Variant-C;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Variant C agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga ACATATGCTCGG CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAacatatgctcggAGATCGAGACCCGACGC chr17:18310055-Variant-C;Patient-55 chr17:18310055-TC DeNovo Patient-55 intergenic NA 0.000513 0.08 3.85 0.11 SHMT1 43198 Variant C agcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctga ATAGGCTCTAAC CGACGCGGTCTCTCTCTagcgttcacagtgaaatagaaccatcagaaaacatgggcaaataaaattaCtaaaaattcatctctatgatgtgccatgttctgaataggcagtttctgaAGAGGGAGACGGACGTCTCAATAAataggctctaacAGATCGAGACCCGACGC chr17:18310055-Variant-C;Patient-55 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative C tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AAGCGTTGTAGT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAaagcgttgtagtAGATCGAGACCCGACGC chr17:19338413-Alternative-C;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative C tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AAGCGCACCTAT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAaagcgcacctatAGATCGAGACCCGACGC chr17:19338413-Alternative-C;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Variant A tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca ACGTATGAGCAT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAacgtatgagcatAGATCGAGACCCGACGC chr17:19338413-Variant-A;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative C tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CGTGTTCCGACT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcgtgttccgactAGATCGAGACCCGACGC chr17:19338413-Alternative-C;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative C tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AGACGAGTGGAG CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAagacgagtggagAGATCGAGACCCGACGC chr17:19338413-Alternative-C;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Variant A tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CGGCAACGTGTT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcggcaacgtgttAGATCGAGACCCGACGC chr17:19338413-Variant-A;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative C tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AGAATTGGTCCT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcCattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAagaattggtcctAGATCGAGACCCGACGC chr17:19338413-Alternative-C;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Variant A tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CAACGACCACAG CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcaacgaccacagAGATCGAGACCCGACGC chr17:19338413-Variant-A;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Variant A tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AATAGCGTAAGG CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAaatagcgtaaggAGATCGAGACCCGACGC chr17:19338413-Variant-A;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative T tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca GTATCGATTGGT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAgtatcgattggtAGATCGAGACCCGACGC chr17:19338413-Alternative-T;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative T tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca ACGCTTCTTGAA CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAacgcttcttgaaAGATCGAGACCCGACGC chr17:19338413-Alternative-T;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Reference G tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca GGATAGACGTTC CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAggatagacgttcAGATCGAGACCCGACGC chr17:19338413-Reference-G;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Reference G tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CGGCTTAATGAT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcggcttaatgatAGATCGAGACCCGACGC chr17:19338413-Reference-G;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Reference G tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca AGCAGCTAACAT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAagcagctaacatAGATCGAGACCCGACGC chr17:19338413-Reference-G;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative T tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CTTAGGCGGTGT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAActtaggcggtgtAGATCGAGACCCGACGC chr17:19338413-Alternative-T;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative T tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CGAGCGAAGATT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcgagcgaagattAGATCGAGACCCGACGC chr17:19338413-Alternative-T;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Reference G tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca GTTGACGACAGG CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAgttgacgacaggAGATCGAGACCCGACGC chr17:19338413-Reference-G;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Reference G tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca GTCGAAGATCGG CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcGattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAgtcgaagatcggAGATCGAGACCCGACGC chr17:19338413-Reference-G;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Alternative T tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CAGGATTGCGCT CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcTattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcaggattgcgctAGATCGAGACCCGACGC chr17:19338413-Alternative-T;Patient-98 chr17:19338413-GA DeNovo Patient-98 intergenic 6.4e-05 0.000513 0.18 5.56 -0.38 MFAP4 47880 Variant A tgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgcca CACGTCAGCCAA CGACGCGGTCTCTCTCTtgcagtggcacaatctcagctcactgcacctccgcctcctgggttcaagcAattctcttgcctcagcttcctgagtagctgggactgtaggcatgtgccaAGAGGGAGACGGACGTCTCAATAAcacgtcagccaaAGATCGAGACCCGACGC chr17:19338413-Variant-A;Patient-98 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative C taataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt GGTACGGCGAAT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAggtacggcgaatAGATCGAGACCCGACGC chr17:19501682-Alternative-C;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Variant A taataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AGACGGAAGACG CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAagacggaagacgAGATCGAGACCCGACGC chr17:19501682-Variant-A;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative T taataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AAGCACGCCGAT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAaagcacgccgatAGATCGAGACCCGACGC chr17:19501682-Alternative-T;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative C taataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ATTGATCGAGCT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAattgatcgagctAGATCGAGACCCGACGC chr17:19501682-Alternative-C;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Variant A taataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ATTGCACGTCAA CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAattgcacgtcaaAGATCGAGACCCGACGC chr17:19501682-Variant-A;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Variant A taataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AGTTACGCGCGA CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAagttacgcgcgaAGATCGAGACCCGACGC chr17:19501682-Variant-A;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative T taataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ACTGCGTATTCA CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAactgcgtattcaAGATCGAGACCCGACGC chr17:19501682-Alternative-T;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Reference G taataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt CAGTATACGTAC CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAcagtatacgtacAGATCGAGACCCGACGC chr17:19501682-Reference-G;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Variant A taataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ACCGTATCTTCG CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAaccgtatcttcgAGATCGAGACCCGACGC chr17:19501682-Variant-A;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Variant A taataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AGGACAGACAAC CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgAgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAaggacagacaacAGATCGAGACCCGACGC chr17:19501682-Variant-A;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Reference G taataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AGAACGGATTGT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAagaacggattgtAGATCGAGACCCGACGC chr17:19501682-Reference-G;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative C taataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt CAGTAGATGAGT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAcagtagatgagtAGATCGAGACCCGACGC chr17:19501682-Alternative-C;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative C taataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ACTGAGCGAGCT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAactgagcgagctAGATCGAGACCCGACGC chr17:19501682-Alternative-C;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative C taataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AAGTTGGTGAAC CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgCgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAaagttggtgaacAGATCGAGACCCGACGC chr17:19501682-Alternative-C;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Reference G taataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ACGATATCTGCA CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAacgatatctgcaAGATCGAGACCCGACGC chr17:19501682-Reference-G;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative T taataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt ACAAGCGGAATT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAacaagcggaattAGATCGAGACCCGACGC chr17:19501682-Alternative-T;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Reference G taataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt GGCCATTATCAA CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAggccattatcaaAGATCGAGACCCGACGC chr17:19501682-Reference-G;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative T taataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt CGACTCGTGAAC CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAcgactcgtgaacAGATCGAGACCCGACGC chr17:19501682-Alternative-T;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Alternative T taataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt GGTCTTGTTATC CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgTgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAggtcttgttatcAGATCGAGACCCGACGC chr17:19501682-Alternative-T;Patient-88 chr17:19501682-GA DeNovo Patient-88 intergenic NA 0.000513 -0.31 0.35 -0.84 ALDH3A2 50381 Reference G taataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaatt AGGACGAGTCGT CGACGCGGTCTCTCTCTtaataaatacaataactaaatttccaccctaatactgatataacaccttgGgcatacccctctgaaagtgctaccccatatgccataccctaaatcaattAGAGGGAGACGGACGTCTCAATAAaggacgagtcgtAGATCGAGACCCGACGC chr17:19501682-Reference-G;Patient-88 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative G gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgt CGCGAGCATAAC CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAcgcgagcataacAGATCGAGACCCGACGC chr17:19958174-Alternative-G;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative G gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgt CTACGATGCGTC CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAActacgatgcgtcAGATCGAGACCCGACGC chr17:19958174-Alternative-G;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative G gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgt GACCTTACGGCA CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgaccttacggcaAGATCGAGACCCGACGC chr17:19958174-Alternative-G;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative G gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgt ACAGCTTGCATT CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAacagcttgcattAGATCGAGACCCGACGC chr17:19958174-Alternative-G;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative G gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgt GACTACTTCACG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccGaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgactacttcacgAGATCGAGACCCGACGC chr17:19958174-Alternative-G;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Variant T gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgt GATGATCCGAAG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgatgatccgaagAGATCGAGACCCGACGC chr17:19958174-Variant-T;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Variant T gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgt ACACCTAGATGG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAacacctagatggAGATCGAGACCCGACGC chr17:19958174-Variant-T;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Reference C gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgt GACATGTCGTCG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgacatgtcgtcgAGATCGAGACCCGACGC chr17:19958174-Reference-C;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Variant T gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgt ATCGTCAGGTAA CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAatcgtcaggtaaAGATCGAGACCCGACGC chr17:19958174-Variant-T;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative A gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgt AACTTGACTCCT CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAaacttgactcctAGATCGAGACCCGACGC chr17:19958174-Alternative-A;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Reference C gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgt ACACGACTGTCA CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAacacgactgtcaAGATCGAGACCCGACGC chr17:19958174-Reference-C;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Variant T gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgt AAGCACGCCAAC CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAaagcacgccaacAGATCGAGACCCGACGC chr17:19958174-Variant-T;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Variant T gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgt GTTGACGGAGCA CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccTaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgttgacggagcaAGATCGAGACCCGACGC chr17:19958174-Variant-T;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative A gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgt GACCTGGACGTT CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgacctggacgttAGATCGAGACCCGACGC chr17:19958174-Alternative-A;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative A gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgt ACGCTAGTGCAC CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAacgctagtgcacAGATCGAGACCCGACGC chr17:19958174-Alternative-A;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative A gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgt GTTGAGATGCCG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgttgagatgccgAGATCGAGACCCGACGC chr17:19958174-Alternative-A;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Alternative A gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgt CGACCGGATCAA CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccAaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAcgaccggatcaaAGATCGAGACCCGACGC chr17:19958174-Alternative-A;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Reference C gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgt CTAGTGGAACTT CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAActagtggaacttAGATCGAGACCCGACGC chr17:19958174-Reference-C;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Reference C gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgt CACGTGTCTGAG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAcacgtgtctgagAGATCGAGACCCGACGC chr17:19958174-Reference-C;Patient-37 chr17:19958174-CT Inherited Patient-37 intronic SPECC1 NA 0.00016 -0.02 2.29 0.47 SPECC1 45524 Reference C gctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgt GTTGGTCTGACG CGACGCGGTCTCTCTCTgctggctaatttttgtattttctgtagagacagggtttcaccatgttaccCaggctagtctcgaactcctgggcttgatattctttttttattttactgtAGAGGGAGACGGACGTCTCAATAAgttggtctgacgAGATCGAGACCCGACGC chr17:19958174-Reference-C;Patient-37 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Reference A agatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GTGTCGATTCGG CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAgtgtcgattcggAGATCGAGACCCGACGC chr17:20876689-Reference-A;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Reference A agatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CGTACGTTAAGA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcgtacgttaagaAGATCGAGACCCGACGC chr17:20876689-Reference-A;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Reference A agatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GCCAACACTATA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAgccaacactataAGATCGAGACCCGACGC chr17:20876689-Reference-A;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative C agatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CATATAGGTCGT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcatataggtcgtAGATCGAGACCCGACGC chr17:20876689-Alternative-C;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative C agatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CACACAGCTCGA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcacacagctcgaAGATCGAGACCCGACGC chr17:20876689-Alternative-C;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Reference A agatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa ACGCCATCAACC CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAacgccatcaaccAGATCGAGACCCGACGC chr17:20876689-Reference-A;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Reference A agatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CGGAGTAATCAT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacAtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcggagtaatcatAGATCGAGACCCGACGC chr17:20876689-Reference-A;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative C agatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa ACGCAAGCTATT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAacgcaagctattAGATCGAGACCCGACGC chr17:20876689-Alternative-C;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative C agatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CACTGTATCGTT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcactgtatcgttAGATCGAGACCCGACGC chr17:20876689-Alternative-C;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative C agatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CGCAAGAGCATC CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacCtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcgcaagagcatcAGATCGAGACCCGACGC chr17:20876689-Alternative-C;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative T agatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CAGCTATTGGTT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAcagctattggttAGATCGAGACCCGACGC chr17:20876689-Alternative-T;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative T agatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa ATCCTCTTACGA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAatcctcttacgaAGATCGAGACCCGACGC chr17:20876689-Alternative-T;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Variant G agatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CTGAAGCGCGAA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAActgaagcgcgaaAGATCGAGACCCGACGC chr17:20876689-Variant-G;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Variant G agatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GTTCGTGCAGGT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAgttcgtgcaggtAGATCGAGACCCGACGC chr17:20876689-Variant-G;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Variant G agatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GTCGACTTAGCG CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAgtcgacttagcgAGATCGAGACCCGACGC chr17:20876689-Variant-G;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative T agatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CTAAGTACCACA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAActaagtaccacaAGATCGAGACCCGACGC chr17:20876689-Alternative-T;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative T agatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GATAGGTGCCGA CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAgataggtgccgaAGATCGAGACCCGACGC chr17:20876689-Alternative-T;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Variant G agatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa CTACGCTATGTT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAActacgctatgttAGATCGAGACCCGACGC chr17:20876689-Variant-G;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Variant G agatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa AGAGTCTCGAAT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacGtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAagagtctcgaatAGATCGAGACCCGACGC chr17:20876689-Variant-G;Patient-24 chr17:20876689-AG Inherited Patient-24 intergenic NA 0.00016 0.78 11.69 0.62 USP22 69662 Alternative T agatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaa GGTTGACCGGAT CGACGCGGTCTCTCTCTagatttaattccatgttttcttctaagagttctatagttttagctcttacTtgtaagtctgtgacctactttgagctcacgtttgtgtgtggtgtgagaaAGAGGGAGACGGACGTCTCAATAAggttgaccggatAGATCGAGACCCGACGC chr17:20876689-Alternative-T;Patient-24 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative A gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa ATTCGCGGATGC CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAattcgcggatgcAGATCGAGACCCGACGC chr17:20976039-Alternative-A;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Variant T gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GTCGCACACATA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgtcgcacacataAGATCGAGACCCGACGC chr17:20976039-Variant-T;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Variant T gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GTAATGAAGTCG CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgtaatgaagtcgAGATCGAGACCCGACGC chr17:20976039-Variant-T;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Reference C gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa ACTGTCGTCAAT CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAactgtcgtcaatAGATCGAGACCCGACGC chr17:20976039-Reference-C;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Variant T gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa AGAACGTGACTA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAagaacgtgactaAGATCGAGACCCGACGC chr17:20976039-Variant-T;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Reference C gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa AACAAGACGAAG CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAaacaagacgaagAGATCGAGACCCGACGC chr17:20976039-Reference-C;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Reference C gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GATTCGAAGCTT CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgattcgaagcttAGATCGAGACCCGACGC chr17:20976039-Reference-C;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative A gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GACCGATGCTTC CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgaccgatgcttcAGATCGAGACCCGACGC chr17:20976039-Alternative-A;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Variant T gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GAGTCTAGGACG CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgagtctaggacgAGATCGAGACCCGACGC chr17:20976039-Variant-T;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Variant T gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GGTATGTGCGCT CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcTaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAggtatgtgcgctAGATCGAGACCCGACGC chr17:20976039-Variant-T;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative A gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa ACACGTACGTAA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAacacgtacgtaaAGATCGAGACCCGACGC chr17:20976039-Alternative-A;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Reference C gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa AACAGCGATTGA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAaacagcgattgaAGATCGAGACCCGACGC chr17:20976039-Reference-C;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative A gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GCAGGACGAATC CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgcaggacgaatcAGATCGAGACCCGACGC chr17:20976039-Alternative-A;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Reference C gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GTTGACCGTCAA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcCaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgttgaccgtcaaAGATCGAGACCCGACGC chr17:20976039-Reference-C;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative G gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GTAGCGATTCGC CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgtagcgattcgcAGATCGAGACCCGACGC chr17:20976039-Alternative-G;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative A gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa CGAACATCTTCG CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcAaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAcgaacatcttcgAGATCGAGACCCGACGC chr17:20976039-Alternative-A;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative G gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GTACCGTCAATA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAgtaccgtcaataAGATCGAGACCCGACGC chr17:20976039-Alternative-G;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative G gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa GGCTCGACACAT CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAggctcgacacatAGATCGAGACCCGACGC chr17:20976039-Alternative-G;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative G gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa CACTATTCTCGA CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAcactattctcgaAGATCGAGACCCGACGC chr17:20976039-Alternative-G;Patient-80 chr17:20976039-CT DeNovo Patient-80 intergenic 3.2e-05 0.001383764 0.13 4.73 -0.69 USP22 29686 Alternative G gacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaa AGACGGTCGATT CGACGCGGTCTCTCTCTgacctgtgaggccctaggactgatgcagggtggcagggcgacctgagatcGaggcccgaggcacccctgctcccagctcctgtcccactcagcccaagaaAGAGGGAGACGGACGTCTCAATAAagacggtcgattAGATCGAGACCCGACGC chr17:20976039-Alternative-G;Patient-80 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative G tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc ACTATCGCGTTA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAactatcgcgttaAGATCGAGACCCGACGC chr17:2306244-Alternative-G;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Variant T tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc ATCCGCTACGCT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAatccgctacgctAGATCGAGACCCGACGC chr17:2306244-Variant-T;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Variant T tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc CATGCTATCGTT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAcatgctatcgttAGATCGAGACCCGACGC chr17:2306244-Variant-T;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Reference C tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GTACCTTGGTAC CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgtaccttggtacAGATCGAGACCCGACGC chr17:2306244-Reference-C;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Variant T tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc AGGAACGCCAGT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAaggaacgccagtAGATCGAGACCCGACGC chr17:2306244-Variant-T;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative G tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GAGGTGGTCTGA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgaggtggtctgaAGATCGAGACCCGACGC chr17:2306244-Alternative-G;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Reference C tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GAATTGCGTCGC CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgaattgcgtcgcAGATCGAGACCCGACGC chr17:2306244-Reference-C;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Reference C tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GTCGCATAAGTT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgtcgcataagttAGATCGAGACCCGACGC chr17:2306244-Reference-C;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative G tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc ACTGAGGAGTCG CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAactgaggagtcgAGATCGAGACCCGACGC chr17:2306244-Alternative-G;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Reference C tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc AGGTGTCGCATT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAaggtgtcgcattAGATCGAGACCCGACGC chr17:2306244-Reference-C;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Variant T tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GCCGGCGTAATT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgccggcgtaattAGATCGAGACCCGACGC chr17:2306244-Variant-T;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative G tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GATGCGGTCGAT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgatgcggtcgatAGATCGAGACCCGACGC chr17:2306244-Alternative-G;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative G tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GGACGGCTGTAA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaGtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAggacggctgtaaAGATCGAGACCCGACGC chr17:2306244-Alternative-G;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative A tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc CAGAGCGATTAA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAcagagcgattaaAGATCGAGACCCGACGC chr17:2306244-Alternative-A;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative A tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc AGCTAGGATAGA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAagctaggatagaAGATCGAGACCCGACGC chr17:2306244-Alternative-A;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Reference C tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GTTGAGCCACGT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaCtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgttgagccacgtAGATCGAGACCCGACGC chr17:2306244-Reference-C;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative A tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc ACGATAGTCTGA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAacgatagtctgaAGATCGAGACCCGACGC chr17:2306244-Alternative-A;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Variant T tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GCGAATTAGACA CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaTtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgcgaattagacaAGATCGAGACCCGACGC chr17:2306244-Variant-T;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative A tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GTACTGCTTCAT CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgtactgcttcatAGATCGAGACCCGACGC chr17:2306244-Alternative-A;Patient-21 chr17:2306244-CT Inherited Patient-21 intergenic 0.000318 0.00103 0.1 4.23 -0.22 TSR1 65565 Alternative A tggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgc GATTGTTGGCCG CGACGCGGTCTCTCTCTtggaagacagctagaaacatagaaagcaggcaaaatgtttgctggctttaAtcctttcctttgagggcatcgtcatgcatcctaggggggaaaaatctgcAGAGGGAGACGGACGTCTCAATAAgattgttggccgAGATCGAGACCCGACGC chr17:2306244-Alternative-A;Patient-21 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Reference C cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccat CTGAAGCCTGAC CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAActgaagcctgacAGATCGAGACCCGACGC chr17:2512147-Reference-C;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Reference C cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccat CGATTAACGTAC CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcgattaacgtacAGATCGAGACCCGACGC chr17:2512147-Reference-C;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Variant G cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccat ACACGCCACATA CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAacacgccacataAGATCGAGACCCGACGC chr17:2512147-Variant-G;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Reference C cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccat GCCGCATTACGA CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgccgcattacgaAGATCGAGACCCGACGC chr17:2512147-Reference-C;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Reference C cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccat GGATCTCGAACT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAggatctcgaactAGATCGAGACCCGACGC chr17:2512147-Reference-C;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Variant G cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccat GTTCATTCGGTT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgttcattcggttAGATCGAGACCCGACGC chr17:2512147-Variant-G;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative A cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccat GTAGGACGCAGT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgtaggacgcagtAGATCGAGACCCGACGC chr17:2512147-Alternative-A;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative A cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccat CAAGACGTCGAA CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcaagacgtcgaaAGATCGAGACCCGACGC chr17:2512147-Alternative-A;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Variant G cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccat CGAGTCCTTACG CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcgagtccttacgAGATCGAGACCCGACGC chr17:2512147-Variant-G;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative A cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccat CTATGTCCGACC CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAActatgtccgaccAGATCGAGACCCGACGC chr17:2512147-Alternative-A;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative A cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccat GTATAGCAGGCG CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgtatagcaggcgAGATCGAGACCCGACGC chr17:2512147-Alternative-A;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Variant G cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccat CGTGCGATAGTC CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcgtgcgatagtcAGATCGAGACCCGACGC chr17:2512147-Variant-G;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Variant G cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccat CTACAACTAGGT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttGgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAActacaactaggtAGATCGAGACCCGACGC chr17:2512147-Variant-G;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative T cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccat CAGTTGTGCGCT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcagttgtgcgctAGATCGAGACCCGACGC chr17:2512147-Alternative-T;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative T cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccat GTTGAGTCTGTT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgttgagtctgttAGATCGAGACCCGACGC chr17:2512147-Alternative-T;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative T cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccat AGATGGAATCGT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAagatggaatcgtAGATCGAGACCCGACGC chr17:2512147-Alternative-T;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative A cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccat GTGCTATCGTGG CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttAgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgtgctatcgtggAGATCGAGACCCGACGC chr17:2512147-Alternative-A;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Reference C cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccat GTCATGTAGTAC CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttCgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAgtcatgtagtacAGATCGAGACCCGACGC chr17:2512147-Reference-C;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative T cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccat CAAGGTTGCGGT CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcaaggttgcggtAGATCGAGACCCGACGC chr17:2512147-Alternative-T;Patient-61 chr17:2512147-CG Inherited Patient-61 intronic PAFAH1B1 NA 0.00016 0.18 5.54 2.7 PAFAH1B1 15223 Alternative T cccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccat CATGTGAGTGAA CGACGCGGTCTCTCTCTcccttaggttaattaaataaaatatttgttctttggtaatatttatgcttTgagctgaataaagagaatggataatattattgcatcaattttagaccatAGAGGGAGACGGACGTCTCAATAAcatgtgagtgaaAGATCGAGACCCGACGC chr17:2512147-Alternative-T;Patient-61 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative G ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg GGTAGATGACAT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAggtagatgacatAGATCGAGACCCGACGC chr17:2527716-Alternative-G;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative G ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CGTAGTACTACA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAcgtagtactacaAGATCGAGACCCGACGC chr17:2527716-Alternative-G;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Variant T ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CGGAGCGTCATA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAcggagcgtcataAGATCGAGACCCGACGC chr17:2527716-Variant-T;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative G ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CGCCTTCGTAGA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAcgccttcgtagaAGATCGAGACCCGACGC chr17:2527716-Alternative-G;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Variant T ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg GATTCGGCCAGA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAgattcggccagaAGATCGAGACCCGACGC chr17:2527716-Variant-T;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative G ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CTCTTCGATTCT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAActcttcgattctAGATCGAGACCCGACGC chr17:2527716-Alternative-G;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Variant T ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg AGCTAACCTAAC CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAagctaacctaacAGATCGAGACCCGACGC chr17:2527716-Variant-T;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Variant T ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg ACTGTCTAACCT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAactgtctaacctAGATCGAGACCCGACGC chr17:2527716-Variant-T;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Reference A ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CGACCAGATCTA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAcgaccagatctaAGATCGAGACCCGACGC chr17:2527716-Reference-A;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Variant T ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg GGATAGGAACAC CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgTaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAggataggaacacAGATCGAGACCCGACGC chr17:2527716-Variant-T;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative G ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CTCTCGTCTGCT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgGaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAActctcgtctgctAGATCGAGACCCGACGC chr17:2527716-Alternative-G;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative C ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg AACAAGAGCATC CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAaacaagagcatcAGATCGAGACCCGACGC chr17:2527716-Alternative-C;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Reference A ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg ACGCCAATAGCT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAacgccaatagctAGATCGAGACCCGACGC chr17:2527716-Reference-A;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative C ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg AGGCCATACGCT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAaggccatacgctAGATCGAGACCCGACGC chr17:2527716-Alternative-C;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Reference A ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg GTAGTACGGTCC CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAgtagtacggtccAGATCGAGACCCGACGC chr17:2527716-Reference-A;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative C ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg AGGCTGAGGCTA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAaggctgaggctaAGATCGAGACCCGACGC chr17:2527716-Alternative-C;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative C ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg ACCAAGTTGGCA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAaccaagttggcaAGATCGAGACCCGACGC chr17:2527716-Alternative-C;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Reference A ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CTAACCACAGCA CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAActaaccacagcaAGATCGAGACCCGACGC chr17:2527716-Reference-A;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Alternative C ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg ATCGTCCACTAT CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgCaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAAatcgtccactatAGATCGAGACCCGACGC chr17:2527716-Alternative-C;Patient-43 chr17:2527716-AT DeNovo Patient-43 intronic PAFAH1B1 NA 0.00016 0.03 3.09 0.13 PAFAH1B1 30792 Reference A ccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctg CTAGCGCTAGTC CGACGCGGTCTCTCTCTccagtttactgtattagttcgttttcttgctgctgatacagacatacccgAaactgggaacaagaaaaggtttaattggacttgtagttccacatggctgAGAGGGAGACGGACGTCTCAATAActagcgctagtcAGATCGAGACCCGACGC chr17:2527716-Reference-A;Patient-43 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative T agatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca AATAGGCGTGAT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAaataggcgtgatAGATCGAGACCCGACGC chr17:25555391-Alternative-T;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative T agatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca ACTAACGCGCGA CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAactaacgcgcgaAGATCGAGACCCGACGC chr17:25555391-Alternative-T;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Variant G agatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CAAGATGGTAGG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAcaagatggtaggAGATCGAGACCCGACGC chr17:25555391-Variant-G;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative T agatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca GTGATCGGACAG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAgtgatcggacagAGATCGAGACCCGACGC chr17:25555391-Alternative-T;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative T agatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca GAATCGATCTTC CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAgaatcgatcttcAGATCGAGACCCGACGC chr17:25555391-Alternative-T;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Variant G agatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca GACAATGAAGCT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAgacaatgaagctAGATCGAGACCCGACGC chr17:25555391-Variant-G;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative T agatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CACGGACGTATC CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagTtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAcacggacgtatcAGATCGAGACCCGACGC chr17:25555391-Alternative-T;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Reference A agatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca AGTAGCCGTACG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAagtagccgtacgAGATCGAGACCCGACGC chr17:25555391-Reference-A;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Variant G agatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CTGGTATAGTGG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAActggtatagtggAGATCGAGACCCGACGC chr17:25555391-Variant-G;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Variant G agatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca ACCACGTTCAGA CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAaccacgttcagaAGATCGAGACCCGACGC chr17:25555391-Variant-G;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Variant G agatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CGATATCGCACG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagGtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAcgatatcgcacgAGATCGAGACCCGACGC chr17:25555391-Variant-G;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Reference A agatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CGCGTAGCCTTA CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAcgcgtagccttaAGATCGAGACCCGACGC chr17:25555391-Reference-A;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative C agatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca GTCGACTGTCGA CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAgtcgactgtcgaAGATCGAGACCCGACGC chr17:25555391-Alternative-C;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative C agatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca ATCGTGGCGTCT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAatcgtggcgtctAGATCGAGACCCGACGC chr17:25555391-Alternative-C;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative C agatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CTATCCGGATGT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAActatccggatgtAGATCGAGACCCGACGC chr17:25555391-Alternative-C;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Reference A agatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca ACTCCAACAAGT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAactccaacaagtAGATCGAGACCCGACGC chr17:25555391-Reference-A;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Reference A agatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CTTGATAGTGCA CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAActtgatagtgcaAGATCGAGACCCGACGC chr17:25555391-Reference-A;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Reference A agatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca AACAACATCGGT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagAtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAaacaacatcggtAGATCGAGACCCGACGC chr17:25555391-Reference-A;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative C agatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca ACTGCGTGCAAG CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAactgcgtgcaagAGATCGAGACCCGACGC chr17:25555391-Alternative-C;Patient-19 chr17:25555391-AG DeNovo Patient-19 intergenic 9.6e-05 0.00103 0.31 7.34 0.42 WSB1 65714 Alternative C agatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaaca CGATACTTCAGT CGACGCGGTCTCTCTCTagatgtgagccaccacccctggccttagggaaacttatatgacaacttagCtgaaaaggacaaattttttgaaagacaaactaccaaaactcattcaacaAGAGGGAGACGGACGTCTCAATAAcgatacttcagtAGATCGAGACCCGACGC chr17:25555391-Alternative-C;Patient-19 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative T ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc ACACGCCTTGAA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAacacgccttgaaAGATCGAGACCCGACGC chr17:25566971-Alternative-T;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative G ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc ACCTCAACACTT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAacctcaacacttAGATCGAGACCCGACGC chr17:25566971-Alternative-G;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Variant A ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GACAACGAGTAT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgacaacgagtatAGATCGAGACCCGACGC chr17:25566971-Variant-A;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative G ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc ACACGATGACCG CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAacacgatgaccgAGATCGAGACCCGACGC chr17:25566971-Alternative-G;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative G ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GAGGTTAGGTTA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgaggttaggttaAGATCGAGACCCGACGC chr17:25566971-Alternative-G;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative T ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc AACCGTACACTT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAaaccgtacacttAGATCGAGACCCGACGC chr17:25566971-Alternative-T;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative G ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CAGCGAGCCAAT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAcagcgagccaatAGATCGAGACCCGACGC chr17:25566971-Alternative-G;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative G ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GAATGCGTCTAT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccGgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgaatgcgtctatAGATCGAGACCCGACGC chr17:25566971-Alternative-G;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative T ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CTCATCGGACCT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAActcatcggacctAGATCGAGACCCGACGC chr17:25566971-Alternative-T;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative T ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GCCTTGGTGACA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgccttggtgacaAGATCGAGACCCGACGC chr17:25566971-Alternative-T;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Alternative T ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc AGGCCATCGGTT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccTgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAaggccatcggttAGATCGAGACCCGACGC chr17:25566971-Alternative-T;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Variant A ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc ACTCATGTACGA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAactcatgtacgaAGATCGAGACCCGACGC chr17:25566971-Variant-A;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Reference C ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CGGACAACGAAG CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAcggacaacgaagAGATCGAGACCCGACGC chr17:25566971-Reference-C;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Variant A ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CACAGCGGTTCA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAcacagcggttcaAGATCGAGACCCGACGC chr17:25566971-Variant-A;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Reference C ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GGCCGATCCATT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAggccgatccattAGATCGAGACCCGACGC chr17:25566971-Reference-C;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Reference C ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GACCTTATTGTC CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgaccttattgtcAGATCGAGACCCGACGC chr17:25566971-Reference-C;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Variant A ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GACGCTACGCTT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgacgctacgcttAGATCGAGACCCGACGC chr17:25566971-Variant-A;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Variant A ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CTCGCAATACGG CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccAgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAActcgcaatacggAGATCGAGACCCGACGC chr17:25566971-Variant-A;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Reference C ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc GCGACCATCATA CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAgcgaccatcataAGATCGAGACCCGACGC chr17:25566971-Reference-C;Patient-64 chr17:25566971-CA DeNovo Patient-64 intergenic NA 0.00016 -0.22 0.61 -1 WSB1 54134 Reference C ctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgcc CAGCGGCTTAGT CGACGCGGTCTCTCTCTctcccctccctcccgccccctgcccttccttcagacttctgccccatgccCgctattactgagcctctccctcccatatgaacgggtccacctcttcgccAGAGGGAGACGGACGTCTCAATAAcagcggcttagtAGATCGAGACCCGACGC chr17:25566971-Reference-C;Patient-64 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative G tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GCATCGTTCGCT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgcatcgttcgctAGATCGAGACCCGACGC chr17:25647114-Alternative-G;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative A tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc ACTCCTTGTTCT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAactccttgttctAGATCGAGACCCGACGC chr17:25647114-Alternative-A;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Variant T tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc CAGACGACCGAA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAcagacgaccgaaAGATCGAGACCCGACGC chr17:25647114-Variant-T;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative A tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc AGAGGTGGACGA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAagaggtggacgaAGATCGAGACCCGACGC chr17:25647114-Alternative-A;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Variant T tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc CTACGGTCGTGA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAActacggtcgtgaAGATCGAGACCCGACGC chr17:25647114-Variant-T;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Variant T tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GCGCATGCAACT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgcgcatgcaactAGATCGAGACCCGACGC chr17:25647114-Variant-T;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Variant T tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GTACACGAACTT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgtacacgaacttAGATCGAGACCCGACGC chr17:25647114-Variant-T;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Variant T tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc CTTGCTCACTTA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctTgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAActtgctcacttaAGATCGAGACCCGACGC chr17:25647114-Variant-T;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative G tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GACGGAACTCCT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgacggaactcctAGATCGAGACCCGACGC chr17:25647114-Alternative-G;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative G tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GTCAACTGTCAA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgtcaactgtcaaAGATCGAGACCCGACGC chr17:25647114-Alternative-G;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative A tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc ACGCGATACGCT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAacgcgatacgctAGATCGAGACCCGACGC chr17:25647114-Alternative-A;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative G tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GTACCTCTAAGA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgtacctctaagaAGATCGAGACCCGACGC chr17:25647114-Alternative-G;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative A tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc ACCGCAATCCGT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAaccgcaatccgtAGATCGAGACCCGACGC chr17:25647114-Alternative-A;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Reference C tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GCGTATCCGTCA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgcgtatccgtcaAGATCGAGACCCGACGC chr17:25647114-Reference-C;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative A tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc AGATAGCGTCGA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctAgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAagatagcgtcgaAGATCGAGACCCGACGC chr17:25647114-Alternative-A;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Reference C tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc AGATAAGCCTGA CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAagataagcctgaAGATCGAGACCCGACGC chr17:25647114-Reference-C;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Reference C tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc ATAGACAACACG CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAatagacaacacgAGATCGAGACCCGACGC chr17:25647114-Reference-C;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Reference C tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc GCGTTGCGACAT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAgcgttgcgacatAGATCGAGACCCGACGC chr17:25647114-Reference-C;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Reference C tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc ACTTGCGCTAAT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctCgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAacttgcgctaatAGATCGAGACCCGACGC chr17:25647114-Reference-C;Patient-77 chr17:25647114-CT DeNovo Patient-77 intergenic 9.6e-05 0.000513 NA NA NA WSB1 26007 Alternative G tctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggc AACAACGCTGAT CGACGCGGTCTCTCTCTtctggcctcagatcaggaggctgttcatatagcagcttggcccactttctGgccacagggcctgctgcccagaggactttgcagaagtgttggctgaggcAGAGGGAGACGGACGTCTCAATAAaacaacgctgatAGATCGAGACCCGACGC chr17:25647114-Alternative-G;Patient-77 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Reference G tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GTACCTGTCGAG CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgtacctgtcgagAGATCGAGACCCGACGC chr17:26339190-Reference-G;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Reference G tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GATGCTTCTGTT CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgatgcttctgttAGATCGAGACCCGACGC chr17:26339190-Reference-G;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Variant T tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CGAGTCGTGTAC CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAcgagtcgtgtacAGATCGAGACCCGACGC chr17:26339190-Variant-T;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative A tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GGATGGCTACCT CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAggatggctacctAGATCGAGACCCGACGC chr17:26339190-Alternative-A;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Variant T tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GGTTCCGTCTAC CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAggttccgtctacAGATCGAGACCCGACGC chr17:26339190-Variant-T;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Variant T tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc ATCGCTAGGCGA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAatcgctaggcgaAGATCGAGACCCGACGC chr17:26339190-Variant-T;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative C tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CTAATCAACGCA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAActaatcaacgcaAGATCGAGACCCGACGC chr17:26339190-Alternative-C;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Reference G tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CTTGAGTGTCTT CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAActtgagtgtcttAGATCGAGACCCGACGC chr17:26339190-Reference-G;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative A tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc ATTGATACCTGG CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAattgatacctggAGATCGAGACCCGACGC chr17:26339190-Alternative-A;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative C tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc AGACTGCGCGAA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAagactgcgcgaaAGATCGAGACCCGACGC chr17:26339190-Alternative-C;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Variant T tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CTTACAACAACC CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAActtacaacaaccAGATCGAGACCCGACGC chr17:26339190-Variant-T;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Variant T tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GGTAGCTTAACC CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaTaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAggtagcttaaccAGATCGAGACCCGACGC chr17:26339190-Variant-T;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Reference G tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GTAGTCGATAAG CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgtagtcgataagAGATCGAGACCCGACGC chr17:26339190-Reference-G;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative A tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GACCGAGGTAGA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgaccgaggtagaAGATCGAGACCCGACGC chr17:26339190-Alternative-A;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative A tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CGTAGTCCGTCT CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAcgtagtccgtctAGATCGAGACCCGACGC chr17:26339190-Alternative-A;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative A tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GAGATCTCACAT CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaAaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgagatctcacatAGATCGAGACCCGACGC chr17:26339190-Alternative-A;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative C tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CTGCTTCTTGAA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAActgcttcttgaaAGATCGAGACCCGACGC chr17:26339190-Alternative-C;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative C tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GATAGATACGCA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAgatagatacgcaAGATCGAGACCCGACGC chr17:26339190-Alternative-C;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Alternative C tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc CATCGAGAGTAA CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaCaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAcatcgagagtaaAGATCGAGACCCGACGC chr17:26339190-Alternative-C;Patient-54 chr17:26339190-GT Inherited Patient-54 intergenic 0.000669 0.001025641 0.33 7.61 1.92 NLK 30497 Reference G tgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtc GGTTGTTAATCG CGACGCGGTCTCTCTCTtgggccacacaaaatatttctgtaggccacatctggctatgtctgccaaaGaaataagttccattttggaagctgcaattccaaagcaccatgcttagtcAGAGGGAGACGGACGTCTCAATAAggttgttaatcgAGATCGAGACCCGACGC chr17:26339190-Reference-G;Patient-54 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative A tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca ATTGGCTGTCAA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAattggctgtcaaAGATCGAGACCCGACGC chr17:27338080-Alternative-A;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative A tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca CGATAATCTGAC CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAcgataatctgacAGATCGAGACCCGACGC chr17:27338080-Alternative-A;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Reference G tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GCGTGATACAGG CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAgcgtgatacaggAGATCGAGACCCGACGC chr17:27338080-Reference-G;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative T tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GGTCGTGTCGAT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAggtcgtgtcgatAGATCGAGACCCGACGC chr17:27338080-Alternative-T;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative A tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca CATGCTTCGATA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAcatgcttcgataAGATCGAGACCCGACGC chr17:27338080-Alternative-A;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative A tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GGATGTCGTACC CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAggatgtcgtaccAGATCGAGACCCGACGC chr17:27338080-Alternative-A;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Reference G tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AGCTGGTCGAAG CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAagctggtcgaagAGATCGAGACCCGACGC chr17:27338080-Reference-G;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Variant C tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GGAAGACGTACA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAggaagacgtacaAGATCGAGACCCGACGC chr17:27338080-Variant-C;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative A tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AGCTACCATACG CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgAtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAagctaccatacgAGATCGAGACCCGACGC chr17:27338080-Alternative-A;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Variant C tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AATCGTATGTGC CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAaatcgtatgtgcAGATCGAGACCCGACGC chr17:27338080-Variant-C;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Variant C tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AAGTTACTCGAC CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAaagttactcgacAGATCGAGACCCGACGC chr17:27338080-Variant-C;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Variant C tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AGCCTGAAGGCA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAagcctgaaggcaAGATCGAGACCCGACGC chr17:27338080-Variant-C;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative T tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca CTATAGATGCGT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAActatagatgcgtAGATCGAGACCCGACGC chr17:27338080-Alternative-T;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Reference G tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca CGTGACATCGGT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAcgtgacatcggtAGATCGAGACCCGACGC chr17:27338080-Reference-G;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Variant C tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca AGGCGAATTACA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgCtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAaggcgaattacaAGATCGAGACCCGACGC chr17:27338080-Variant-C;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Reference G tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca ACATGAGACAGT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAacatgagacagtAGATCGAGACCCGACGC chr17:27338080-Reference-G;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative T tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GGCCGGTTAAGT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAggccggttaagtAGATCGAGACCCGACGC chr17:27338080-Alternative-T;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative T tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca CAGTCGATAAGA CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAcagtcgataagaAGATCGAGACCCGACGC chr17:27338080-Alternative-T;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Reference G tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca ACTCCGACAACT CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgGtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAactccgacaactAGATCGAGACCCGACGC chr17:27338080-Reference-G;Patient-98 chr17:27338080-GC DeNovo Patient-98 intergenic 0.000159 0.000512821 0.04 3.31 0.09 PHF12 59571 Alternative T tgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctcca GGCAAGTCTAGG CGACGCGGTCTCTCTCTtgatcagggagaaggctgcaccagtctcattggattcttcacaccagctgTtgctgaaggttcaggggttgaagttgaaagaagcccgtggggtcctccaAGAGGGAGACGGACGTCTCAATAAggcaagtctaggAGATCGAGACCCGACGC chr17:27338080-Alternative-T;Patient-98 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Variant A tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GATACTCTAGCA CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAgatactctagcaAGATCGAGACCCGACGC chr17:2737284-Variant-A;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Variant A tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GCACGAGACATC CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAgcacgagacatcAGATCGAGACCCGACGC chr17:2737284-Variant-A;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Variant A tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga CATGACCAACGT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAcatgaccaacgtAGATCGAGACCCGACGC chr17:2737284-Variant-A;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Reference G tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AGTCGGAGTGGT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAagtcggagtggtAGATCGAGACCCGACGC chr17:2737284-Reference-G;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Variant A tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AATAAGCGCACA CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAaataagcgcacaAGATCGAGACCCGACGC chr17:2737284-Variant-A;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Reference G tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga CACGGTGCGTAA CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAcacggtgcgtaaAGATCGAGACCCGACGC chr17:2737284-Reference-G;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Reference G tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GCATGCTAACCG CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAgcatgctaaccgAGATCGAGACCCGACGC chr17:2737284-Reference-G;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative C tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GGTTAATGGCTT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAggttaatggcttAGATCGAGACCCGACGC chr17:2737284-Alternative-C;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative C tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AGACGAATTGCG CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAagacgaattgcgAGATCGAGACCCGACGC chr17:2737284-Alternative-C;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative T tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GCATACGCATAT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAgcatacgcatatAGATCGAGACCCGACGC chr17:2737284-Alternative-T;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative C tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga ACGTGTGTGGAG CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAacgtgtgtggagAGATCGAGACCCGACGC chr17:2737284-Alternative-C;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative C tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga GAATCGCTCGCT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAgaatcgctcgctAGATCGAGACCCGACGC chr17:2737284-Alternative-C;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative T tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga CAACATGCGCTA CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAcaacatgcgctaAGATCGAGACCCGACGC chr17:2737284-Alternative-T;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Variant A tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga ACAATAGACGAC CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccAcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAacaatagacgacAGATCGAGACCCGACGC chr17:2737284-Variant-A;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative T tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AACTTACCTGAG CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAaacttacctgagAGATCGAGACCCGACGC chr17:2737284-Alternative-T;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative T tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AGCTCTGTGCAG CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAagctctgtgcagAGATCGAGACCCGACGC chr17:2737284-Alternative-T;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Reference G tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AGACCGCAATGT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAagaccgcaatgtAGATCGAGACCCGACGC chr17:2737284-Reference-G;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative T tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga CGTTATCCTTCT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccTcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAcgttatccttctAGATCGAGACCCGACGC chr17:2737284-Alternative-T;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Reference G tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga CACACAATCAGT CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccGcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAcacacaatcagtAGATCGAGACCCGACGC chr17:2737284-Reference-G;Patient-59 chr17:2737284-GA Inherited Patient-59 intronic RAP1GAP2 0.000733 0.000346 -0.18 0.84 -4.03 RAP1GAP2 37551 Alternative C tttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctga AACTCGTGACTA CGACGCGGTCTCTCTCTtttccagccctctgagcagctctggctgtgtcctgcgtgctgtaccctccCcccagagaagcactgtcctccgtaagtcaggtggactctcggcctctgaAGAGGGAGACGGACGTCTCAATAAaactcgtgactaAGATCGAGACCCGACGC chr17:2737284-Alternative-C;Patient-59 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Variant A catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt AGCCACTACGGT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAagccactacggtAGATCGAGACCCGACGC chr17:27763464-Variant-A;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative T catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt AGCCGATCTGCT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAagccgatctgctAGATCGAGACCCGACGC chr17:27763464-Alternative-T;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Reference C catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt ACGAAGGTGTCG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAacgaaggtgtcgAGATCGAGACCCGACGC chr17:27763464-Reference-C;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative T catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CGTATACCTGCG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAcgtatacctgcgAGATCGAGACCCGACGC chr17:27763464-Alternative-T;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative T catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt ACACGGTCACTA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAacacggtcactaAGATCGAGACCCGACGC chr17:27763464-Alternative-T;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Variant A catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CGTACTCAACGG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAcgtactcaacggAGATCGAGACCCGACGC chr17:27763464-Variant-A;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Variant A catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CGAGCACAAGAT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAcgagcacaagatAGATCGAGACCCGACGC chr17:27763464-Variant-A;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Variant A catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt AACACGTTCACA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAaacacgttcacaAGATCGAGACCCGACGC chr17:27763464-Variant-A;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative G catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt GTATCAGCTAGA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAgtatcagctagaAGATCGAGACCCGACGC chr17:27763464-Alternative-G;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Reference C catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt GATGCTCACGGT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAgatgctcacggtAGATCGAGACCCGACGC chr17:27763464-Reference-C;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative G catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CTTGGACTTCAT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAActtggacttcatAGATCGAGACCCGACGC chr17:27763464-Alternative-G;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Variant A catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt GACGCTTCAACG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttAatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAgacgcttcaacgAGATCGAGACCCGACGC chr17:27763464-Variant-A;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative T catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt AGCTACTGCGCT CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAagctactgcgctAGATCGAGACCCGACGC chr17:27763464-Alternative-T;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Reference C catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CGTAGGAGGTCA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAcgtaggaggtcaAGATCGAGACCCGACGC chr17:27763464-Reference-C;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative G catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt ACTCGCTGAATA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAactcgctgaataAGATCGAGACCCGACGC chr17:27763464-Alternative-G;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative G catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt CTCTTGAGGTGG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAActcttgaggtggAGATCGAGACCCGACGC chr17:27763464-Alternative-G;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative G catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt ACGATAGGAGAA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttGatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAacgataggagaaAGATCGAGACCCGACGC chr17:27763464-Alternative-G;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Alternative T catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt GAGACTGCGAGA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttTatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAgagactgcgagaAGATCGAGACCCGACGC chr17:27763464-Alternative-T;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Reference C catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt ACTCAAGGTCGG CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAactcaaggtcggAGATCGAGACCCGACGC chr17:27763464-Reference-C;Patient-99 chr17:27763464-CA DeNovo Patient-99 intronic TAOK1 0.000605 0.000319 0.51 9.48 0 TAOK1 45520 Reference C catttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagt GGCAAGCGTGAA CGACGCGGTCTCTCTCTcatttagttaactcttgttttgcttgatatttgtaaacatttcagctcttCatgagtcctgttcattttcctttattaaaatgttaacaatctccaaagtAGAGGGAGACGGACGTCTCAATAAggcaagcgtgaaAGATCGAGACCCGACGC chr17:27763464-Reference-C;Patient-99 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative C tctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GCATCAGTGCAC CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgcatcagtgcacAGATCGAGACCCGACGC chr17:28045376-Alternative-C;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative C tctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GCGTTCCGGATT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgcgttccggattAGATCGAGACCCGACGC chr17:28045376-Alternative-C;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative C tctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaat CACTAGCGATGA CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAcactagcgatgaAGATCGAGACCCGACGC chr17:28045376-Alternative-C;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative C tctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GTCGTCATCGCT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgtcgtcatcgctAGATCGAGACCCGACGC chr17:28045376-Alternative-C;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Variant G tctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GATCGGAGTGGT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgatcggagtggtAGATCGAGACCCGACGC chr17:28045376-Variant-G;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Variant G tctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ATAGTGGAACAC CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAatagtggaacacAGATCGAGACCCGACGC chr17:28045376-Variant-G;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Variant G tctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaat AAGACGTCTAAG CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAaagacgtctaagAGATCGAGACCCGACGC chr17:28045376-Variant-G;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative C tctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GATAAGCGCGAG CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaCcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgataagcgcgagAGATCGAGACCCGACGC chr17:28045376-Alternative-C;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative A tctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ATCTCATCACCA CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAatctcatcaccaAGATCGAGACCCGACGC chr17:28045376-Alternative-A;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Reference T tctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ACACGCACGTAT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAacacgcacgtatAGATCGAGACCCGACGC chr17:28045376-Reference-T;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative A tctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaat CTCAACGACGGT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAActcaacgacggtAGATCGAGACCCGACGC chr17:28045376-Alternative-A;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Variant G tctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GAGTCTATTACG CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgagtctattacgAGATCGAGACCCGACGC chr17:28045376-Variant-G;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Reference T tctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ACAAGCGTGTGC CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAacaagcgtgtgcAGATCGAGACCCGACGC chr17:28045376-Reference-T;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Reference T tctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaat CAGCTTCCTATA CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAcagcttcctataAGATCGAGACCCGACGC chr17:28045376-Reference-T;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Variant G tctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GATCGGTAGCCA CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaGcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgatcggtagccaAGATCGAGACCCGACGC chr17:28045376-Variant-G;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Reference T tctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaat GATCCATACCGG CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAgatccataccggAGATCGAGACCCGACGC chr17:28045376-Reference-T;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative A tctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ATACTTCGGTGT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAatacttcggtgtAGATCGAGACCCGACGC chr17:28045376-Alternative-A;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Reference T tctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaat CTCTGCTACGGT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaTcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAActctgctacggtAGATCGAGACCCGACGC chr17:28045376-Reference-T;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative A tctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaat ATTCTCGCTGAT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAattctcgctgatAGATCGAGACCCGACGC chr17:28045376-Alternative-A;Patient-82 chr17:28045376-TG DeNovo Patient-82 intronic SSH2 0.000924 0.000198 0.12 4.66 1.53 CORO6 96934 Alternative A tctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaat CGATACTAGGTT CGACGCGGTCTCTCTCTtctatatacactcttctgaatgtctttagccacacttatggctatcaccaAcctgtatgttgatgactccttattagttatctattgatgcatagcaaatAGAGGGAGACGGACGTCTCAATAAcgatactaggttAGATCGAGACCCGACGC chr17:28045376-Alternative-A;Patient-82 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative T cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GCGAAGCACGTT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgcgaagcacgttAGATCGAGACCCGACGC chr17:28177775-Alternative-T;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative T cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga CTATCACGTGAA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAActatcacgtgaaAGATCGAGACCCGACGC chr17:28177775-Alternative-T;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Reference G cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga ATCAACGTATGC CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAatcaacgtatgcAGATCGAGACCCGACGC chr17:28177775-Reference-G;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative T cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GGCGGATAATCG CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAggcggataatcgAGATCGAGACCCGACGC chr17:28177775-Alternative-T;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Reference G cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga CATGAGAATCGA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAcatgagaatcgaAGATCGAGACCCGACGC chr17:28177775-Reference-G;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative T cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga ACTCGCTATCAT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAactcgctatcatAGATCGAGACCCGACGC chr17:28177775-Alternative-T;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative T cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GCAGCTAATCAT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcTggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgcagctaatcatAGATCGAGACCCGACGC chr17:28177775-Alternative-T;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Variant A cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GTTAGCTGACAT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgttagctgacatAGATCGAGACCCGACGC chr17:28177775-Variant-A;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Variant A cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga CTAATTGATCGC CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAActaattgatcgcAGATCGAGACCCGACGC chr17:28177775-Variant-A;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Variant A cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AATAGGAGTCGT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAaataggagtcgtAGATCGAGACCCGACGC chr17:28177775-Variant-A;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative C cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GATAGGTTAGGT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgataggttaggtAGATCGAGACCCGACGC chr17:28177775-Alternative-C;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Variant A cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AGTAAGGTACAC CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAagtaaggtacacAGATCGAGACCCGACGC chr17:28177775-Variant-A;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative C cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AACGCCACTTAA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAaacgccacttaaAGATCGAGACCCGACGC chr17:28177775-Alternative-C;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative C cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AAGGTAGTAGCT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAaaggtagtagctAGATCGAGACCCGACGC chr17:28177775-Alternative-C;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Variant A cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AAGGTGCGCAGT CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcAggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAaaggtgcgcagtAGATCGAGACCCGACGC chr17:28177775-Variant-A;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative C cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga AACACAATACGG CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAaacacaatacggAGATCGAGACCCGACGC chr17:28177775-Alternative-C;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Alternative C cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GTAATCTGCCAA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcCggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgtaatctgccaaAGATCGAGACCCGACGC chr17:28177775-Alternative-C;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Reference G cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga CAGGCTAGGCTA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAcaggctaggctaAGATCGAGACCCGACGC chr17:28177775-Reference-G;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Reference G cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga ACAAGGTCGATA CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAacaaggtcgataAGATCGAGACCCGACGC chr17:28177775-Reference-G;Patient-105 chr17:28177775-GA DeNovo Patient-105 intronic SSH2 NA 3.85e-05 -0.23 0.6 -1.2 SSH2 79394 Reference G cgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtga GTATAGCACGAC CGACGCGGTCTCTCTCTcgagcgtggtggctcacgcctataatcccagcactttgggaggccgaggcGggtggatcacgaggtcaggagatcaagaccatcctgactaacatggtgaAGAGGGAGACGGACGTCTCAATAAgtatagcacgacAGATCGAGACCCGACGC chr17:28177775-Reference-G;Patient-105 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Variant A gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CGGATGGCTTGT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAcggatggcttgtAGATCGAGACCCGACGC chr17:28548260-Variant-A;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Variant A gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GGCGTAATCTAT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAggcgtaatctatAGATCGAGACCCGACGC chr17:28548260-Variant-A;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative T gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GCGCACCTCATT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAgcgcacctcattAGATCGAGACCCGACGC chr17:28548260-Alternative-T;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Reference G gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GAAGAGTAACGC CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAgaagagtaacgcAGATCGAGACCCGACGC chr17:28548260-Reference-G;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Reference G gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GGTCATCGGCTA CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAggtcatcggctaAGATCGAGACCCGACGC chr17:28548260-Reference-G;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Variant A gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CAGTCTTCGATT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAcagtcttcgattAGATCGAGACCCGACGC chr17:28548260-Variant-A;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Reference G gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GGCTACGTCTGA CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAggctacgtctgaAGATCGAGACCCGACGC chr17:28548260-Reference-G;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Variant A gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttct ATTCTTGCGTGT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAattcttgcgtgtAGATCGAGACCCGACGC chr17:28548260-Variant-A;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative T gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct ACGATTCACAGG CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAacgattcacaggAGATCGAGACCCGACGC chr17:28548260-Alternative-T;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative T gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct ATTCGGAACATC CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAattcggaacatcAGATCGAGACCCGACGC chr17:28548260-Alternative-T;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative C gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GAGTATCCGCAG CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAgagtatccgcagAGATCGAGACCCGACGC chr17:28548260-Alternative-C;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative C gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct ATTCATCACACG CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAattcatcacacgAGATCGAGACCCGACGC chr17:28548260-Alternative-C;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Reference G gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CGCACGTATGCA CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAcgcacgtatgcaAGATCGAGACCCGACGC chr17:28548260-Reference-G;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Variant A gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttct ACCTACTCGAAG CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtActgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAacctactcgaagAGATCGAGACCCGACGC chr17:28548260-Variant-A;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative C gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CTGCGATAGCGT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAActgcgatagcgtAGATCGAGACCCGACGC chr17:28548260-Alternative-C;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative T gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct AGCGTAGTCTAT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAagcgtagtctatAGATCGAGACCCGACGC chr17:28548260-Alternative-T;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative C gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GTACAAGCGATT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAgtacaagcgattAGATCGAGACCCGACGC chr17:28548260-Alternative-C;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative T gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct GCGCGAATGGAA CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtTctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAgcgcgaatggaaAGATCGAGACCCGACGC chr17:28548260-Alternative-T;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Reference G gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CTTAGTTGCGGC CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtGctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAActtagttgcggcAGATCGAGACCCGACGC chr17:28548260-Reference-G;Patient-110 chr17:28548260-GA DeNovo Patient-110 intronic SLC6A4 NA 3.98e-05 -0.66 0.03 -0.47 SLC6A4 14725 Alternative C gtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttct CAACTGTCGATT CGACGCGGTCTCTCTCTgtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagtCctgggattacaggtgtgagccaccacgcctggcgagatttgacttttctAGAGGGAGACGGACGTCTCAATAAcaactgtcgattAGATCGAGACCCGACGC chr17:28548260-Alternative-C;Patient-110 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative G ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GGTCTTGTAGAT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAggtcttgtagatAGATCGAGACCCGACGC chr17:30258668-Alternative-G;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative G ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata AACACGACTACC CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAaacacgactaccAGATCGAGACCCGACGC chr17:30258668-Alternative-G;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative G ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CACATCGCGTAC CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAcacatcgcgtacAGATCGAGACCCGACGC chr17:30258668-Alternative-G;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative G ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CTCAAGGCGAGT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAActcaaggcgagtAGATCGAGACCCGACGC chr17:30258668-Alternative-G;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative T ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata AATCGAGTTCCT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAaatcgagttcctAGATCGAGACCCGACGC chr17:30258668-Alternative-T;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative T ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata ATTCAAGCCGGT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAattcaagccggtAGATCGAGACCCGACGC chr17:30258668-Alternative-T;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative G ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CTCACCGCAATT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcGaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAActcaccgcaattAGATCGAGACCCGACGC chr17:30258668-Alternative-G;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative T ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GTTCCGAGTCGA CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAgttccgagtcgaAGATCGAGACCCGACGC chr17:30258668-Alternative-T;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative T ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CTAGCTTCGTCG CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAActagcttcgtcgAGATCGAGACCCGACGC chr17:30258668-Alternative-T;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Reference A ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GATAGGATTCGA CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAgataggattcgaAGATCGAGACCCGACGC chr17:30258668-Reference-A;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Variant C ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CGTAAGCGGCTA CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAcgtaagcggctaAGATCGAGACCCGACGC chr17:30258668-Variant-C;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Alternative T ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata ACCTTCATCACA CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcTaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAaccttcatcacaAGATCGAGACCCGACGC chr17:30258668-Alternative-T;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Variant C ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GAATGACTCGAC CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAgaatgactcgacAGATCGAGACCCGACGC chr17:30258668-Variant-C;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Variant C ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CGTTCACTTGAT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAcgttcacttgatAGATCGAGACCCGACGC chr17:30258668-Variant-C;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Reference A ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata ATCCTACTCGAT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAatcctactcgatAGATCGAGACCCGACGC chr17:30258668-Reference-A;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Reference A ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GTAGATGCTTGT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAgtagatgcttgtAGATCGAGACCCGACGC chr17:30258668-Reference-A;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Reference A ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CATAAGTAGCGA CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAcataagtagcgaAGATCGAGACCCGACGC chr17:30258668-Reference-A;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Variant C ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata CTCAATATCGCG CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAActcaatatcgcgAGATCGAGACCCGACGC chr17:30258668-Variant-C;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Variant C ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata GAGTGCTCGCAT CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcCaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAgagtgctcgcatAGATCGAGACCCGACGC chr17:30258668-Variant-C;Patient-39 chr17:30258668-AC DeNovo Patient-39 intergenic NA 0.000513 -0.19 0.76 -0.73 SUZ12 5375 Reference A ttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattata AGCATCGACGAG CGACGCGGTCTCTCTCTttctcattatcagacttgggaagacagcatagtatactgtggtgattttcAaaaaaaattctttttagcaagtagaaccattatgttcaaacaaattataAGAGGGAGACGGACGTCTCAATAAagcatcgacgagAGATCGAGACCCGACGC chr17:30258668-Reference-A;Patient-39 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative C ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GGTAGAAGCGAA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAggtagaagcgaaAGATCGAGACCCGACGC chr17:30266872-Alternative-C;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative C ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CGGCATCGTTCA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcggcatcgttcaAGATCGAGACCCGACGC chr17:30266872-Alternative-C;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Reference A ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GATAGCCTGATT CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAgatagcctgattAGATCGAGACCCGACGC chr17:30266872-Reference-A;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative C ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GAGTTGCGTACC CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAgagttgcgtaccAGATCGAGACCCGACGC chr17:30266872-Alternative-C;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative C ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GGTGGCTATATA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAggtggctatataAGATCGAGACCCGACGC chr17:30266872-Alternative-C;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative C ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CTGAGAACGATA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccCtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAActgagaacgataAGATCGAGACCCGACGC chr17:30266872-Alternative-C;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Reference A ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GTTAGGACCTTA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAgttaggaccttaAGATCGAGACCCGACGC chr17:30266872-Reference-A;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Reference A ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CGTAAGGTATCG CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcgtaaggtatcgAGATCGAGACCCGACGC chr17:30266872-Reference-A;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Variant G ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CGTACATCTAAG CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcgtacatctaagAGATCGAGACCCGACGC chr17:30266872-Variant-G;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative T ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GGATGCGAATAA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAggatgcgaataaAGATCGAGACCCGACGC chr17:30266872-Alternative-T;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Variant G ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CAACCTGGACAT CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcaacctggacatAGATCGAGACCCGACGC chr17:30266872-Variant-G;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Variant G ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CGGAGATCTGGT CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcggagatctggtAGATCGAGACCCGACGC chr17:30266872-Variant-G;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Reference A ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CTCTTCGTGGAC CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAActcttcgtggacAGATCGAGACCCGACGC chr17:30266872-Reference-A;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Variant G ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt ATCTCCGGCGTT CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAatctccggcgttAGATCGAGACCCGACGC chr17:30266872-Variant-G;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Variant G ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt AATGCCGCGGAT CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccGtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAaatgccgcggatAGATCGAGACCCGACGC chr17:30266872-Variant-G;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Reference A ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt CATCGGTGAACC CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccAtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAcatcggtgaaccAGATCGAGACCCGACGC chr17:30266872-Reference-A;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative T ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt AATCGTACGCAA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAaatcgtacgcaaAGATCGAGACCCGACGC chr17:30266872-Alternative-T;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative T ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GTTAACGGCGAG CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAgttaacggcgagAGATCGAGACCCGACGC chr17:30266872-Alternative-T;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative T ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt ATTGACACCGAC CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAattgacaccgacAGATCGAGACCCGACGC chr17:30266872-Alternative-T;Patient-87 chr17:30266872-AG Inherited Patient-87 intronic SUZ12 0.000223 4.95e-05 0.08 3.91 0.84 SUZ12 2827 Alternative T ggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttcttt GTGTCGGACCTA CGACGCGGTCTCTCTCTggcatgagccactgcgcctggccggctgactacagattttttaagtgaccTtttaaaaagtgaaattttcatcttgtttggcatcaatcaatagttctttAGAGGGAGACGGACGTCTCAATAAgtgtcggacctaAGATCGAGACCCGACGC chr17:30266872-Alternative-T;Patient-87 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative T cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct ACACCACGATAC CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAacaccacgatacAGATCGAGACCCGACGC chr17:30305037-Alternative-T;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative T cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct ACTTATGGTCGA CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAacttatggtcgaAGATCGAGACCCGACGC chr17:30305037-Alternative-T;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Reference A cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct CGTGTTGATGAT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAcgtgttgatgatAGATCGAGACCCGACGC chr17:30305037-Reference-A;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative T cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct CAACTCCGCGAA CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAcaactccgcgaaAGATCGAGACCCGACGC chr17:30305037-Alternative-T;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative T cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GGAGTACCACAG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAggagtaccacagAGATCGAGACCCGACGC chr17:30305037-Alternative-T;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Variant G cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GCCGTATCGACT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAgccgtatcgactAGATCGAGACCCGACGC chr17:30305037-Variant-G;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Reference A cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GTGCTTGAGTCG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAgtgcttgagtcgAGATCGAGACCCGACGC chr17:30305037-Reference-A;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative C cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GACAGTAGTGCG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAgacagtagtgcgAGATCGAGACCCGACGC chr17:30305037-Alternative-C;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Reference A cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct AGGAGATAGGCG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAaggagataggcgAGATCGAGACCCGACGC chr17:30305037-Reference-A;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative T cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct AACGGCTATAAC CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaTaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAaacggctataacAGATCGAGACCCGACGC chr17:30305037-Alternative-T;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Reference A cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GACATGCTCGCA CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAgacatgctcgcaAGATCGAGACCCGACGC chr17:30305037-Reference-A;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Variant G cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct CTAACCTAGCTT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAActaacctagcttAGATCGAGACCCGACGC chr17:30305037-Variant-G;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative C cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct ATAGGAACGCTA CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAataggaacgctaAGATCGAGACCCGACGC chr17:30305037-Alternative-C;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative C cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct AACGCGCCTAAG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAaacgcgcctaagAGATCGAGACCCGACGC chr17:30305037-Alternative-C;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Reference A cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct AACGTCGTTCGG CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaAaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAaacgtcgttcggAGATCGAGACCCGACGC chr17:30305037-Reference-A;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Variant G cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct CTATATCCGGTT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAActatatccggttAGATCGAGACCCGACGC chr17:30305037-Variant-G;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative C cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct AGCGCTCTGACT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAagcgctctgactAGATCGAGACCCGACGC chr17:30305037-Alternative-C;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Alternative C cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct GAGCCTAACCGT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaCaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAgagcctaaccgtAGATCGAGACCCGACGC chr17:30305037-Alternative-C;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Variant G cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct CATGCGTAGCGA CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAcatgcgtagcgaAGATCGAGACCCGACGC chr17:30305037-Variant-G;Patient-27 chr17:30305037-AG DeNovo Patient-27 intronic SUZ12 NA 4.95e-05 0.14 4.94 0.16 SUZ12 40992 Variant G cttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttct ATAGGCGAACAT CGACGCGGTCTCTCTCTcttattaaatatttctgcaatttctgtttggaaacgaaatattttagtgaGaatatcaccagtgaaagaatgtctgggaagcaaatccagcattttttctAGAGGGAGACGGACGTCTCAATAAataggcgaacatAGATCGAGACCCGACGC chr17:30305037-Variant-G;Patient-27 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative C actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GATCCTACCTGT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAgatcctacctgtAGATCGAGACCCGACGC chr17:30386356-Alternative-C;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative C actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CATAATTGGTCG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAcataattggtcgAGATCGAGACCCGACGC chr17:30386356-Alternative-C;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative C actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CGTATACCGCAA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAcgtataccgcaaAGATCGAGACCCGACGC chr17:30386356-Alternative-C;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Variant G actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CGTTGTCTCGCA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAcgttgtctcgcaAGATCGAGACCCGACGC chr17:30386356-Variant-G;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative T actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt ATCGACAGCTAA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAatcgacagctaaAGATCGAGACCCGACGC chr17:30386356-Alternative-T;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative T actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GGCAAGCATGCA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAggcaagcatgcaAGATCGAGACCCGACGC chr17:30386356-Alternative-T;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Variant G actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GCGTATCCGGTT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAgcgtatccggttAGATCGAGACCCGACGC chr17:30386356-Variant-G;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Reference A actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CGTGTTGAGTCG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAcgtgttgagtcgAGATCGAGACCCGACGC chr17:30386356-Reference-A;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Reference A actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CGTGTTGCGTAC CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAcgtgttgcgtacAGATCGAGACCCGACGC chr17:30386356-Reference-A;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative T actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GGTCACGTATCG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAggtcacgtatcgAGATCGAGACCCGACGC chr17:30386356-Alternative-T;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative T actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CTTAACAGAGCG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAActtaacagagcgAGATCGAGACCCGACGC chr17:30386356-Alternative-T;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Variant G actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GGCTACGCGTTA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAggctacgcgttaAGATCGAGACCCGACGC chr17:30386356-Variant-G;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Reference A actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt ACGGTAATCAAG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAacggtaatcaagAGATCGAGACCCGACGC chr17:30386356-Reference-A;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Variant G actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GACGCGGAGTAT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAgacgcggagtatAGATCGAGACCCGACGC chr17:30386356-Variant-G;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Variant G actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt ACCATTGTGCTT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaGaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAaccattgtgcttAGATCGAGACCCGACGC chr17:30386356-Variant-G;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative C actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CTGGCGGTCTAA CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAActggcggtctaaAGATCGAGACCCGACGC chr17:30386356-Alternative-C;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative T actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt CTCGGCTAATCG CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaTaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAActcggctaatcgAGATCGAGACCCGACGC chr17:30386356-Alternative-T;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Reference A actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt AGGTGTCGGCTT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAaggtgtcggcttAGATCGAGACCCGACGC chr17:30386356-Reference-A;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Reference A actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GGTTCATGTTCT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaAaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAggttcatgttctAGATCGAGACCCGACGC chr17:30386356-Reference-A;Patient-62 chr17:30386356-AG DeNovo Patient-62 intergenic NA 0.000513 -0.05 1.99 0.05 RHOT1 83116 Alternative C actgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgt GTAGCGCTCTGT CGACGCGGTCTCTCTCTactgcactccagcctgggtgacagaacaagactctgtgtcaaaaaaaaaaCaaaaaagaaaacaaaagaaaaaaaaaggaatgttttaggggaggcctgtAGAGGGAGACGGACGTCTCAATAAgtagcgctctgtAGATCGAGACCCGACGC chr17:30386356-Alternative-C;Patient-62 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative C ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag AGACCGACGTGA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAagaccgacgtgaAGATCGAGACCCGACGC chr17:30484728-Alternative-C;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Reference G ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag GTTACCATGCGG CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAgttaccatgcggAGATCGAGACCCGACGC chr17:30484728-Reference-G;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Reference G ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag ATTGTTCACGTC CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAattgttcacgtcAGATCGAGACCCGACGC chr17:30484728-Reference-G;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Reference G ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CTATGACGCGTC CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAActatgacgcgtcAGATCGAGACCCGACGC chr17:30484728-Reference-G;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative C ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag AATGCGGTGGAC CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAaatgcggtggacAGATCGAGACCCGACGC chr17:30484728-Alternative-C;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Reference G ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag GTCTAGCCTACG CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAgtctagcctacgAGATCGAGACCCGACGC chr17:30484728-Reference-G;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Variant A ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CATCGGACTGGT CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcatcggactggtAGATCGAGACCCGACGC chr17:30484728-Variant-A;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Reference G ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag ACGATCATGTCA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaGacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAacgatcatgtcaAGATCGAGACCCGACGC chr17:30484728-Reference-G;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative T ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CAACGGATATGA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcaacggatatgaAGATCGAGACCCGACGC chr17:30484728-Alternative-T;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Variant A ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CTGGTTATTCAC CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAActggttattcacAGATCGAGACCCGACGC chr17:30484728-Variant-A;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative T ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CGGTGTCGATAT CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcggtgtcgatatAGATCGAGACCCGACGC chr17:30484728-Alternative-T;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative T ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CATTCTCGATCA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcattctcgatcaAGATCGAGACCCGACGC chr17:30484728-Alternative-T;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Variant A ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag GAGCACTGTCGT CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAgagcactgtcgtAGATCGAGACCCGACGC chr17:30484728-Variant-A;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Variant A ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag GGACACTCGGAA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAggacactcggaaAGATCGAGACCCGACGC chr17:30484728-Variant-A;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative C ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag GCACGAGGATTA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAgcacgaggattaAGATCGAGACCCGACGC chr17:30484728-Alternative-C;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative T ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag AAGGTTAAGTCG CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAaaggttaagtcgAGATCGAGACCCGACGC chr17:30484728-Alternative-T;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative T ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CGCAACAACCGT CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaTacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcgcaacaaccgtAGATCGAGACCCGACGC chr17:30484728-Alternative-T;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Variant A ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag AACAACTCATCG CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaAacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAaacaactcatcgAGATCGAGACCCGACGC chr17:30484728-Variant-A;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative C ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag ACAGGTCGTCCA CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAacaggtcgtccaAGATCGAGACCCGACGC chr17:30484728-Alternative-C;Patient-37 chr17:30484728-GA Inherited Patient-37 intronic RHOT1 0.000415 0.000247 -0.2 0.73 0 RHOT1 15254 Alternative C ccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgag CGTTCTTATGGT CGACGCGGTCTCTCTCTccaggtgtggtggtgcacacctgtgatcccagctactcagaaggctgagaCacaggagaatcagcttgaacccaggaggtggaggttgcagtgagctgagAGAGGGAGACGGACGTCTCAATAAcgttcttatggtAGATCGAGACCCGACGC chr17:30484728-Alternative-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Reference C tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GATGAATCAGCA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgatgaatcagcaAGATCGAGACCCGACGC chr17:32401961-Reference-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative A tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GTCGAACGTGCT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtcgaacgtgctAGATCGAGACCCGACGC chr17:32401961-Alternative-A;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Reference C tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GCATGCCACAAG CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcatgccacaagAGATCGAGACCCGACGC chr17:32401961-Reference-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Reference C tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg ATAACGCGCGCA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAataacgcgcgcaAGATCGAGACCCGACGC chr17:32401961-Reference-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative A tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg AAGCGCTCATAT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaagcgctcatatAGATCGAGACCCGACGC chr17:32401961-Alternative-A;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Reference C tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GTTGACTGGTTA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgttgactggttaAGATCGAGACCCGACGC chr17:32401961-Reference-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative A tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg AGCGCGAGTCAT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagcgcgagtcatAGATCGAGACCCGACGC chr17:32401961-Alternative-A;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative A tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg AACAGCGGATGG CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaacagcggatggAGATCGAGACCCGACGC chr17:32401961-Alternative-A;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Reference C tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg ACACCGACCTGT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaCgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacaccgacctgtAGATCGAGACCCGACGC chr17:32401961-Reference-C;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative A tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg CAGCGGTATGAG CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaAgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcagcggtatgagAGATCGAGACCCGACGC chr17:32401961-Alternative-A;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Variant T tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg ACGGCGATAGCA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacggcgatagcaAGATCGAGACCCGACGC chr17:32401961-Variant-T;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Variant T tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GCGTACGTTGTC CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcgtacgttgtcAGATCGAGACCCGACGC chr17:32401961-Variant-T;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Variant T tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GACATTGTCAGA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgacattgtcagaAGATCGAGACCCGACGC chr17:32401961-Variant-T;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative G tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg CTAAGCGAGATA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActaagcgagataAGATCGAGACCCGACGC chr17:32401961-Alternative-G;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative G tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg CGGTGAACGACT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcggtgaacgactAGATCGAGACCCGACGC chr17:32401961-Alternative-G;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Variant T tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg CTTGCAATGCTT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActtgcaatgcttAGATCGAGACCCGACGC chr17:32401961-Variant-T;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Variant T tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg AGAAGTTACGCA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaTgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagaagttacgcaAGATCGAGACCCGACGC chr17:32401961-Variant-T;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative G tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg AGAACCTTCCAA CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagaaccttccaaAGATCGAGACCCGACGC chr17:32401961-Alternative-G;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative G tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg GCATCGAATAGG CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcatcgaataggAGATCGAGACCCGACGC chr17:32401961-Alternative-G;Patient-37 chr17:32401961-CT DeNovo Patient-37 intronic ASIC2 0.000736 9.9e-05 -0.4 0.18 -0.32 ASIC2 81863 Alternative G tctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttgg CGCGTAACAGGT CGACGCGGTCTCTCTCTtctcctgtctcagccccctgagtagttgggattacaggcacctgccatcaGgcctggctaatttttgtattttagtagagacagggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgcgtaacaggtAGATCGAGACCCGACGC chr17:32401961-Alternative-G;Patient-37 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Variant C cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaat CGGTGGTAGCTA CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAcggtggtagctaAGATCGAGACCCGACGC chr17:32554960-Variant-C;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Variant C cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaat CGTACAAGGTGG CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAcgtacaaggtggAGATCGAGACCCGACGC chr17:32554960-Variant-C;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Variant C cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaat GTTGTGAGTGTT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgttgtgagtgttAGATCGAGACCCGACGC chr17:32554960-Variant-C;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative A cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaat GTTGACGACATT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgttgacgacattAGATCGAGACCCGACGC chr17:32554960-Alternative-A;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative G cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaat ATTGGCGCTGCA CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAattggcgctgcaAGATCGAGACCCGACGC chr17:32554960-Alternative-G;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Variant C cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaat ACATAGTTCTGG CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAacatagttctggAGATCGAGACCCGACGC chr17:32554960-Variant-C;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Reference T cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaat GATATCTGACGT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgatatctgacgtAGATCGAGACCCGACGC chr17:32554960-Reference-T;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative A cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaat CGCGTAATGCCA CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAcgcgtaatgccaAGATCGAGACCCGACGC chr17:32554960-Alternative-A;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative A cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaat ATAGTGGTCTAC CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAatagtggtctacAGATCGAGACCCGACGC chr17:32554960-Alternative-A;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative G cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaat GACTAACCAAGA CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgactaaccaagaAGATCGAGACCCGACGC chr17:32554960-Alternative-G;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Reference T cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaat ATAGACATGCGG CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAatagacatgcggAGATCGAGACCCGACGC chr17:32554960-Reference-T;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative G cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaat GTTGAGCACAAC CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgttgagcacaacAGATCGAGACCCGACGC chr17:32554960-Alternative-G;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative G cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaat AAGGTTCCATAC CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAaaggttccatacAGATCGAGACCCGACGC chr17:32554960-Alternative-G;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative G cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaat AACTCGGCTTAA CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaGgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAaactcggcttaaAGATCGAGACCCGACGC chr17:32554960-Alternative-G;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative A cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaat GTAGCGATAAGT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgtagcgataagtAGATCGAGACCCGACGC chr17:32554960-Alternative-A;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Reference T cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaat GCGTAATCCGGT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgcgtaatccggtAGATCGAGACCCGACGC chr17:32554960-Reference-T;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Variant C cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaat ATCTGGATAGCG CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaCgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAatctggatagcgAGATCGAGACCCGACGC chr17:32554960-Variant-C;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Reference T cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaat GAGTGTAACGAT CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgagtgtaacgatAGATCGAGACCCGACGC chr17:32554960-Reference-T;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Alternative A cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaat CATTACCTACAC CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaAgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAcattacctacacAGATCGAGACCCGACGC chr17:32554960-Alternative-A;Patient-68 chr17:32554960-TC Inherited Patient-68 intergenic 0.000255 0.00205 0.44 8.78 0.23 CCL2 27335 Reference T cttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaat GTTCACCGGTTC CGACGCGGTCTCTCTCTcttggccagggcactctaaagttaacctgaaagactggttcaggccatgaTgggaaggggggttggacatgccccattatgcccttctctctttcagaatAGAGGGAGACGGACGTCTCAATAAgttcaccggttcAGATCGAGACCCGACGC chr17:32554960-Reference-T;Patient-68 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Reference T tcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ACCTTACGTTGT CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAaccttacgttgtAGATCGAGACCCGACGC chr17:33321890-Reference-T;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative A tcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt GTTAACGCATGT CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAgttaacgcatgtAGATCGAGACCCGACGC chr17:33321890-Alternative-A;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative G tcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CGTGTGCATTAA CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAcgtgtgcattaaAGATCGAGACCCGACGC chr17:33321890-Alternative-G;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative A tcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt AACACGTACGTC CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAaacacgtacgtcAGATCGAGACCCGACGC chr17:33321890-Alternative-A;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Variant C tcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ATAGGCCAATGT CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAataggccaatgtAGATCGAGACCCGACGC chr17:33321890-Variant-C;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative A tcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ACTCGGTCATGG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAactcggtcatggAGATCGAGACCCGACGC chr17:33321890-Alternative-A;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Variant C tcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CGCTCGACTACA CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAcgctcgactacaAGATCGAGACCCGACGC chr17:33321890-Variant-C;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Variant C tcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CGTCGTCGTAAG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAcgtcgtcgtaagAGATCGAGACCCGACGC chr17:33321890-Variant-C;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Reference T tcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ACATATACCTGG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAacatatacctggAGATCGAGACCCGACGC chr17:33321890-Reference-T;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Reference T tcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CTGGTATAATCG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAActggtataatcgAGATCGAGACCCGACGC chr17:33321890-Reference-T;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative A tcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt GAATCGGAGATA CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAgaatcggagataAGATCGAGACCCGACGC chr17:33321890-Alternative-A;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Reference T tcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt GAATGACCTCAT CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAgaatgacctcatAGATCGAGACCCGACGC chr17:33321890-Reference-T;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative A tcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CAGCGTATATGG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataAagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAcagcgtatatggAGATCGAGACCCGACGC chr17:33321890-Alternative-A;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Variant C tcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt CGAATCAGCGAG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAcgaatcagcgagAGATCGAGACCCGACGC chr17:33321890-Variant-C;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Variant C tcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt GTCGTTGAACAT CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataCagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAgtcgttgaacatAGATCGAGACCCGACGC chr17:33321890-Variant-C;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative G tcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ACCTGGAAGGAC CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAacctggaaggacAGATCGAGACCCGACGC chr17:33321890-Alternative-G;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Reference T tcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt GCGAGCTAGAAG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataTagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAgcgagctagaagAGATCGAGACCCGACGC chr17:33321890-Reference-T;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative G tcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt AGAACCTTGGAA CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAagaaccttggaaAGATCGAGACCCGACGC chr17:33321890-Alternative-G;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative G tcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt AACTTCACGCGC CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAaacttcacgcgcAGATCGAGACCCGACGC chr17:33321890-Alternative-G;Patient-53 chr17:33321890-TC DeNovo Patient-53 intronic LIG3 0.000669 0.000346 -0.31 0.35 -7.82 LIG3 14372 Alternative G tcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacatt ATATAGCCTACG CGACGCGGTCTCTCTCTtcaacaattatttatcagatgcttacccattgttacagctggtggggataGagcagtggaaaaaatggacaaaagttctggccaccatgaagtttacattAGAGGGAGACGGACGTCTCAATAAatatagcctacgAGATCGAGACCCGACGC chr17:33321890-Alternative-G;Patient-53 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative G acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag ACAACCGCAGCA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAacaaccgcagcaAGATCGAGACCCGACGC chr17:33492280-Alternative-G;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative G acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag ACCTAACCGAGT CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAacctaaccgagtAGATCGAGACCCGACGC chr17:33492280-Alternative-G;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Variant T acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag AGAGTAGATGAG CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAagagtagatgagAGATCGAGACCCGACGC chr17:33492280-Variant-T;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative G acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag ATCAATGCGAAG CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAatcaatgcgaagAGATCGAGACCCGACGC chr17:33492280-Alternative-G;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative G acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CTTGATGCGATA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAActtgatgcgataAGATCGAGACCCGACGC chr17:33492280-Alternative-G;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Reference C acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag AATGGCTACGAA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAaatggctacgaaAGATCGAGACCCGACGC chr17:33492280-Reference-C;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Variant T acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CTTGACACGGCA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAActtgacacggcaAGATCGAGACCCGACGC chr17:33492280-Variant-T;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative G acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GCGACATATTGA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactGatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgcgacatattgaAGATCGAGACCCGACGC chr17:33492280-Alternative-G;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Reference C acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GCAGGTGATAAG CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgcaggtgataagAGATCGAGACCCGACGC chr17:33492280-Reference-C;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Reference C acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GCATTGTAGGTT CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgcattgtaggttAGATCGAGACCCGACGC chr17:33492280-Reference-C;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Reference C acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag ATTGCGTACCGC CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAattgcgtaccgcAGATCGAGACCCGACGC chr17:33492280-Reference-C;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative A acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag AGACGTCGATAA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAagacgtcgataaAGATCGAGACCCGACGC chr17:33492280-Alternative-A;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative A acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CGATCAGCGGAT CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAcgatcagcggatAGATCGAGACCCGACGC chr17:33492280-Alternative-A;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Variant T acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GACCTAACGGAA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgacctaacggaaAGATCGAGACCCGACGC chr17:33492280-Variant-T;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative A acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GTTCACGCTATT CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgttcacgctattAGATCGAGACCCGACGC chr17:33492280-Alternative-A;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Variant T acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag GTCTACGCCACA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAgtctacgccacaAGATCGAGACCCGACGC chr17:33492280-Variant-T;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative A acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag ACCTTAAGAGGT CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAaccttaagaggtAGATCGAGACCCGACGC chr17:33492280-Alternative-A;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Variant T acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CTCGGCAGCATA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactTatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAActcggcagcataAGATCGAGACCCGACGC chr17:33492280-Variant-T;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Reference C acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CGCGAGTCTGAA CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactCatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAAcgcgagtctgaaAGATCGAGACCCGACGC chr17:33492280-Reference-C;Patient-59 chr17:33492280-CT DeNovo Patient-59 intronic UNC45B 0.000191 4.95e-05 -0.41 0.17 -3.49 UNC45B 17443 Alternative A acatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcag CTCAATGGTAGG CGACGCGGTCTCTCTCTacatgtcagcttgtcaaggagggaggcccggttctttcaagactaagactAatgtggctttgcagagctagacaggggttaggaccctcagcagctgcagAGAGGGAGACGGACGTCTCAATAActcaatggtaggAGATCGAGACCCGACGC chr17:33492280-Alternative-A;Patient-59 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Variant T tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CATGAGAGTAGT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcatgagagtagtAGATCGAGACCCGACGC chr17:35711544-Variant-T;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative A tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CATAGACGAGCA CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcatagacgagcaAGATCGAGACCCGACGC chr17:35711544-Alternative-A;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Variant T tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CGTTGATGAACT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcgttgatgaactAGATCGAGACCCGACGC chr17:35711544-Variant-T;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative A tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CTTATGCCTAGA CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAActtatgcctagaAGATCGAGACCCGACGC chr17:35711544-Alternative-A;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Variant T tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt GTGACTAATGAG CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAgtgactaatgagAGATCGAGACCCGACGC chr17:35711544-Variant-T;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative A tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt AGCGCTGCGTAA CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAagcgctgcgtaaAGATCGAGACCCGACGC chr17:35711544-Alternative-A;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative A tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt ACGCATCTGGCA CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAacgcatctggcaAGATCGAGACCCGACGC chr17:35711544-Alternative-A;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Variant T tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CGCTCGGTATAC CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcgctcggtatacAGATCGAGACCCGACGC chr17:35711544-Variant-T;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative A tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CGGACGGTTATC CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagAgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcggacggttatcAGATCGAGACCCGACGC chr17:35711544-Alternative-A;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Variant T tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt AAGTTGGACCTT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagTgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAaagttggaccttAGATCGAGACCCGACGC chr17:35711544-Variant-T;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Reference C tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt GCATCGTGTAGT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAgcatcgtgtagtAGATCGAGACCCGACGC chr17:35711544-Reference-C;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Reference C tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt ACTTCTCGTAAG CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAacttctcgtaagAGATCGAGACCCGACGC chr17:35711544-Reference-C;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Reference C tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt ACGATATACCGT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAacgatataccgtAGATCGAGACCCGACGC chr17:35711544-Reference-C;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Reference C tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt GTTGAACGGACG CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAgttgaacggacgAGATCGAGACCCGACGC chr17:35711544-Reference-C;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Reference C tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt AGATTAGCGTGG CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagCgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAagattagcgtggAGATCGAGACCCGACGC chr17:35711544-Reference-C;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative G tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt GACCTACCTATT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAgacctacctattAGATCGAGACCCGACGC chr17:35711544-Alternative-G;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative G tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt ACTACCAAGAGT CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAactaccaagagtAGATCGAGACCCGACGC chr17:35711544-Alternative-G;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative G tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt ATAGTCTCGCGG CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAatagtctcgcggAGATCGAGACCCGACGC chr17:35711544-Alternative-G;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative G tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt CGTATATGTGCA CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAcgtatatgtgcaAGATCGAGACCCGACGC chr17:35711544-Alternative-G;Patient-91 chr17:35711544-CT DeNovo Patient-91 intronic ACACA 3.2e-05 4.95e-05 -0.35 0.26 -3.52 ACACA 55326 Alternative G tagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagt GGAACTAGGTAC CGACGCGGTCTCTCTCTtagtttcttacctgtttaatatcaccttcaaatagtccattagattcaagGgaatacagtactcattacagttttttaaaattaaagaaacaggctgagtAGAGGGAGACGGACGTCTCAATAAggaactaggtacAGATCGAGACCCGACGC chr17:35711544-Alternative-G;Patient-91 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative G ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggagggga AACGTCCGACGT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAaacgtccgacgtAGATCGAGACCCGACGC chr17:36440638-Alternative-G;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative G ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggagggga CGAACGATACGC CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcgaacgatacgcAGATCGAGACCCGACGC chr17:36440638-Alternative-G;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative G ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggagggga ACGGCAGCGTAA CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAacggcagcgtaaAGATCGAGACCCGACGC chr17:36440638-Alternative-G;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Variant T ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggagggga GCAACCAACAAC CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgcaaccaacaacAGATCGAGACCCGACGC chr17:36440638-Variant-T;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Variant T ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggagggga CGCGTGCTTCTA CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcgcgtgcttctaAGATCGAGACCCGACGC chr17:36440638-Variant-T;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Variant T ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggagggga CGGATTATAACG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcggattataacgAGATCGAGACCCGACGC chr17:36440638-Variant-T;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Variant T ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggagggga GTAAGCAACGCG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgtaagcaacgcgAGATCGAGACCCGACGC chr17:36440638-Variant-T;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative A ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggagggga ATCGCGTGCAAG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAatcgcgtgcaagAGATCGAGACCCGACGC chr17:36440638-Alternative-A;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative G ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggagggga CGTAGACCATGG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcgtagaccatggAGATCGAGACCCGACGC chr17:36440638-Alternative-G;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative G ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggagggga AGGTATGTACGT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaGctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAaggtatgtacgtAGATCGAGACCCGACGC chr17:36440638-Alternative-G;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative A ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggagggga CGAACTTCCTAT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcgaacttcctatAGATCGAGACCCGACGC chr17:36440638-Alternative-A;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative A ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggagggga ATCATCTTCCGT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAatcatcttccgtAGATCGAGACCCGACGC chr17:36440638-Alternative-A;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative A ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggagggga GCATCACATAAG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgcatcacataagAGATCGAGACCCGACGC chr17:36440638-Alternative-A;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Reference C ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggagggga AAGTGTCTGGCG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAaagtgtctggcgAGATCGAGACCCGACGC chr17:36440638-Reference-C;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Variant T ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggagggga GAGTATGCCAAT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaTctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgagtatgccaatAGATCGAGACCCGACGC chr17:36440638-Variant-T;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Reference C ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggagggga CGAACGTGTAGA CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAcgaacgtgtagaAGATCGAGACCCGACGC chr17:36440638-Reference-C;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Reference C ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggagggga ATTGCGGCGAAC CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAattgcggcgaacAGATCGAGACCCGACGC chr17:36440638-Reference-C;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Reference C ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggagggga GTTCAAGAGTCT CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgttcaagagtctAGATCGAGACCCGACGC chr17:36440638-Reference-C;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Alternative A ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggagggga GAGTTGTGGTGG CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaActcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAgagttgtggtggAGATCGAGACCCGACGC chr17:36440638-Alternative-A;Patient-75 chr17:36440638-CT DeNovo Patient-75 intergenic 3.2e-05 0.000513 -0.06 1.85 0.52 SOCS7 67368 Reference C ggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggagggga ACGGTATGGATA CGACGCGGTCTCTCTCTggagcgaaagtccatctcaaaaaaaccccaaaaaagacctagtcttggaaCctcaaacctctattaatcatctatagggagagcacaaatttggaggggaAGAGGGAGACGGACGTCTCAATAAacggtatggataAGATCGAGACCCGACGC chr17:36440638-Reference-C;Patient-75 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Variant C tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AGCTTGTGCCGT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAagcttgtgccgtAGATCGAGACCCGACGC chr17:36563619-Variant-C;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative A tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AACGTCTACGGC CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAaacgtctacggcAGATCGAGACCCGACGC chr17:36563619-Alternative-A;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative A tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AGTAACAGCGAG CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAagtaacagcgagAGATCGAGACCCGACGC chr17:36563619-Alternative-A;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Variant C tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CAATATAGCGTC CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcaatatagcgtcAGATCGAGACCCGACGC chr17:36563619-Variant-C;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Variant C tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GATTCTTACAGG CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgattcttacaggAGATCGAGACCCGACGC chr17:36563619-Variant-C;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative A tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AGTCGAATGGAT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAagtcgaatggatAGATCGAGACCCGACGC chr17:36563619-Alternative-A;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Variant C tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CTATTCCTGAAC CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAActattcctgaacAGATCGAGACCCGACGC chr17:36563619-Variant-C;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Variant C tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CGTCCATTCGGT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgCtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcgtccattcggtAGATCGAGACCCGACGC chr17:36563619-Variant-C;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Reference T tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AGGTGCCAGTCA CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAaggtgccagtcaAGATCGAGACCCGACGC chr17:36563619-Reference-T;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative G tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GGACTTGACCGT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAggacttgaccgtAGATCGAGACCCGACGC chr17:36563619-Alternative-G;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative G tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GCAAGTTAGCAT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgcaagttagcatAGATCGAGACCCGACGC chr17:36563619-Alternative-G;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative A tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AAGTTGACGGTT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAaagttgacggttAGATCGAGACCCGACGC chr17:36563619-Alternative-A;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Reference T tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc ACAGCTACAACC CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAacagctacaaccAGATCGAGACCCGACGC chr17:36563619-Reference-T;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative A tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CGCGCATCTAAG CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgAtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcgcgcatctaagAGATCGAGACCCGACGC chr17:36563619-Alternative-A;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Reference T tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CATAATCGTCCT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcataatcgtcctAGATCGAGACCCGACGC chr17:36563619-Reference-T;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Reference T tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GCGCTATGTAAT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgcgctatgtaatAGATCGAGACCCGACGC chr17:36563619-Reference-T;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative G tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc CGTTGAACATCA CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAcgttgaacatcaAGATCGAGACCCGACGC chr17:36563619-Alternative-G;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative G tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc AGATTCGCAAGA CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAagattcgcaagaAGATCGAGACCCGACGC chr17:36563619-Alternative-G;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Reference T tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GTCGAACTAACC CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgTtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgtcgaactaaccAGATCGAGACCCGACGC chr17:36563619-Reference-T;Patient-61 chr17:36563619-TC Inherited Patient-61 intergenic 3.2e-05 0.000513 -0.09 1.5 0 SOCS7 55611 Alternative G tgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggc GATACGGATTCT CGACGCGGTCTCTCTCTtgttcatgttgatactgtgacctcctcccatgaatcatgaatgatctttgGtttttggaaatggagtctcactctgtcacccaggctggagtgcaatggcAGAGGGAGACGGACGTCTCAATAAgatacggattctAGATCGAGACCCGACGC chr17:36563619-Alternative-G;Patient-61 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Reference A ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CGTCCAATGCGA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcgtccaatgcgaAGATCGAGACCCGACGC chr17:37000879-Reference-A;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative C ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CGGAGCGAGATA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcggagcgagataAGATCGAGACCCGACGC chr17:37000879-Alternative-C;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative T ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GATCCGCGGTAT CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgatccgcggtatAGATCGAGACCCGACGC chr17:37000879-Alternative-T;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Variant G ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag AAGTTGGCGTTA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAaagttggcgttaAGATCGAGACCCGACGC chr17:37000879-Variant-G;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative T ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CACGAACGTTGT CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcacgaacgttgtAGATCGAGACCCGACGC chr17:37000879-Alternative-T;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative T ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag ATTCGACGGTAT CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAattcgacggtatAGATCGAGACCCGACGC chr17:37000879-Alternative-T;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Variant G ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CTGGTCGATTAA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAActggtcgattaaAGATCGAGACCCGACGC chr17:37000879-Variant-G;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Variant G ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag ATAAGCGTCGAA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAataagcgtcgaaAGATCGAGACCCGACGC chr17:37000879-Variant-G;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Reference A ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GCGCGGTTAACA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgcgcggttaacaAGATCGAGACCCGACGC chr17:37000879-Reference-A;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Variant G ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CGAAGTGAACAG CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcgaagtgaacagAGATCGAGACCCGACGC chr17:37000879-Variant-G;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Reference A ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag ATAAGGTCGGCG CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAataaggtcggcgAGATCGAGACCCGACGC chr17:37000879-Reference-A;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Reference A ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CAAGGTTCAACT CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcaaggttcaactAGATCGAGACCCGACGC chr17:37000879-Reference-A;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative C ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag ATACCACACGAC CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAataccacacgacAGATCGAGACCCGACGC chr17:37000879-Alternative-C;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Variant G ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GTGCGCTAGCAA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccGgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgtgcgctagcaaAGATCGAGACCCGACGC chr17:37000879-Variant-G;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative T ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CGCAGCTTGCTA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcgcagcttgctaAGATCGAGACCCGACGC chr17:37000879-Alternative-T;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Reference A ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CTTAAGACGCGC CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccAgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAActtaagacgcgcAGATCGAGACCCGACGC chr17:37000879-Reference-A;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative T ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GCAGTTGGTTCG CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccTgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgcagttggttcgAGATCGAGACCCGACGC chr17:37000879-Alternative-T;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative C ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GAGCAAGCCGAA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgagcaagccgaaAGATCGAGACCCGACGC chr17:37000879-Alternative-C;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative C ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag CGGATATCAACC CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAcggatatcaaccAGATCGAGACCCGACGC chr17:37000879-Alternative-C;Patient-68 chr17:37000879-AG Inherited Patient-68 intergenic 3.2e-05 0.00103 -0.24 0.56 -0.4 RPL23 9173 Alternative C ctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccag GTAGGAGCGAGA CGACGCGGTCTCTCTCTctgcctcagcctccaattagctgggattacaggcacacgccaccaggcccCgctaattttcgtattttttgtagagacagggtttcgctgtgttggccagAGAGGGAGACGGACGTCTCAATAAgtaggagcgagaAGATCGAGACCCGACGC chr17:37000879-Alternative-C;Patient-68 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative C tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ATCGAATCCGGT CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAatcgaatccggtAGATCGAGACCCGACGC chr17:37354400-Alternative-C;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Reference A tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt AGCTCAACCAAC CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAagctcaaccaacAGATCGAGACCCGACGC chr17:37354400-Reference-A;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Reference A tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ATCGGTTGATGA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAatcggttgatgaAGATCGAGACCCGACGC chr17:37354400-Reference-A;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Reference A tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ACAACGGTAACA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAacaacggtaacaAGATCGAGACCCGACGC chr17:37354400-Reference-A;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative C tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CAAGAGCAACGA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAcaagagcaacgaAGATCGAGACCCGACGC chr17:37354400-Alternative-C;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Reference A tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ACATAAGACGCA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAacataagacgcaAGATCGAGACCCGACGC chr17:37354400-Reference-A;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Variant G tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CAACATCATGGT CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAcaacatcatggtAGATCGAGACCCGACGC chr17:37354400-Variant-G;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Reference A tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt AGCATGCCTCGA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacAtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAagcatgcctcgaAGATCGAGACCCGACGC chr17:37354400-Reference-A;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative C tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CGAGCATATAGA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAcgagcatatagaAGATCGAGACCCGACGC chr17:37354400-Alternative-C;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative T tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CATAGGCAGTAA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAcataggcagtaaAGATCGAGACCCGACGC chr17:37354400-Alternative-T;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative T tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CTCTGCGATGCA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAActctgcgatgcaAGATCGAGACCCGACGC chr17:37354400-Alternative-T;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Variant G tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt CAACGCGTTCCA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAcaacgcgttccaAGATCGAGACCCGACGC chr17:37354400-Variant-G;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Variant G tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt GACTATCGGCAG CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAgactatcggcagAGATCGAGACCCGACGC chr17:37354400-Variant-G;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Variant G tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ACATAAGTGGCA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAacataagtggcaAGATCGAGACCCGACGC chr17:37354400-Variant-G;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative T tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ATAGCGTCTAAC CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAatagcgtctaacAGATCGAGACCCGACGC chr17:37354400-Alternative-T;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative C tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt GTGTTAGTTGGT CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAgtgttagttggtAGATCGAGACCCGACGC chr17:37354400-Alternative-C;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative T tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt GTGTTCGTACGG CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAgtgttcgtacggAGATCGAGACCCGACGC chr17:37354400-Alternative-T;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Variant G tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ACTTGCTCGTTA CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacGtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAacttgctcgttaAGATCGAGACCCGACGC chr17:37354400-Variant-G;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative T tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt ACAACAGCGGTT CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacTtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAacaacagcggttAGATCGAGACCCGACGC chr17:37354400-Alternative-T;Patient-61 chr17:37354400-AG Inherited Patient-61 intergenic NA 0.000512821 0.17 5.33 -3.61 RPL19 2135 Alternative C tgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgt GCACGACAGCTT CGACGCGGTCTCTCTCTtgtggggcccaggctgcctcaaaccaaacagaaaagcctctccctccaacCtggctctggggctgccggtgggaggctgaggctgagatggggagggtgtAGAGGGAGACGGACGTCTCAATAAgcacgacagcttAGATCGAGACCCGACGC chr17:37354400-Alternative-C;Patient-61 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative T cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg AACTACACCGGT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAaactacaccggtAGATCGAGACCCGACGC chr17:37388378-Alternative-T;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative T cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GTGAATCAGGCA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgtgaatcaggcaAGATCGAGACCCGACGC chr17:37388378-Alternative-T;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative T cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg ATAGTCGGAACA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAatagtcggaacaAGATCGAGACCCGACGC chr17:37388378-Alternative-T;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative A cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GCGGTCGCATAA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgcggtcgcataaAGATCGAGACCCGACGC chr17:37388378-Alternative-A;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Variant G cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg ACATGAGGTTCT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAacatgaggttctAGATCGAGACCCGACGC chr17:37388378-Variant-G;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative T cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg CACGCGTCCAAT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAcacgcgtccaatAGATCGAGACCCGACGC chr17:37388378-Alternative-T;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative T cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg CGGAATGTCGAG CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgTctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAcggaatgtcgagAGATCGAGACCCGACGC chr17:37388378-Alternative-T;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Variant G cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg AGGCTTACGTTA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAaggcttacgttaAGATCGAGACCCGACGC chr17:37388378-Variant-G;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative A cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GGAACTTCGTGC CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAggaacttcgtgcAGATCGAGACCCGACGC chr17:37388378-Alternative-A;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Variant G cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GACTATCGGACA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgactatcggacaAGATCGAGACCCGACGC chr17:37388378-Variant-G;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Variant G cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GAATCGAGTGCG CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgaatcgagtgcgAGATCGAGACCCGACGC chr17:37388378-Variant-G;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Reference C cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg AAGTCGTTGGCG CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAaagtcgttggcgAGATCGAGACCCGACGC chr17:37388378-Reference-C;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Variant G cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GACGACATACGT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgGctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgacgacatacgtAGATCGAGACCCGACGC chr17:37388378-Variant-G;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative A cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcgg CGTGTACCGTAC CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAcgtgtaccgtacAGATCGAGACCCGACGC chr17:37388378-Alternative-A;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Reference C cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg CGACTTACCGAA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAcgacttaccgaaAGATCGAGACCCGACGC chr17:37388378-Reference-C;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Reference C cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg AGTGCCGATAGT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAagtgccgatagtAGATCGAGACCCGACGC chr17:37388378-Reference-C;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Reference C cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg ACTACCAACCGA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAactaccaaccgaAGATCGAGACCCGACGC chr17:37388378-Reference-C;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative A cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GCGGTGTTGGAT CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgcggtgttggatAGATCGAGACCCGACGC chr17:37388378-Alternative-A;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Alternative A cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GCATATAAGGCA CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgActttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgcatataaggcaAGATCGAGACCCGACGC chr17:37388378-Alternative-A;Patient-81 chr17:37388378-CG DeNovo Patient-81 intergenic 9.6e-05 0.00103 0.44 8.76 2.53 RPL19 31841 Reference C cgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcgg GTATTACTGTGG CGACGCGGTCTCTCTCTcgtgagtgtggtgatgccgaggagacttcgaggcagaaagattgagcctgCctttaactgctcccttggggttaacgcctggggagagatcctgtggcggAGAGGGAGACGGACGTCTCAATAAgtattactgtggAGATCGAGACCCGACGC chr17:37388378-Reference-C;Patient-81 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative C cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CTAAGTCGCCTT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAActaagtcgccttAGATCGAGACCCGACGC chr17:37756371-Alternative-C;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Reference G cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GATACTCACGCG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAgatactcacgcgAGATCGAGACCCGACGC chr17:37756371-Reference-G;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Reference G cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc ACGACGATTATC CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAacgacgattatcAGATCGAGACCCGACGC chr17:37756371-Reference-G;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative T cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CGGTGATATGAA CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAcggtgatatgaaAGATCGAGACCCGACGC chr17:37756371-Alternative-T;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative T cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GAATATAGCGAC CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAgaatatagcgacAGATCGAGACCCGACGC chr17:37756371-Alternative-T;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative T cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CTTATGGACGCG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAActtatggacgcgAGATCGAGACCCGACGC chr17:37756371-Alternative-T;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative T cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GACATTGACGAT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAgacattgacgatAGATCGAGACCCGACGC chr17:37756371-Alternative-T;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative T cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc ACTGGCGATAAT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccTgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAactggcgataatAGATCGAGACCCGACGC chr17:37756371-Alternative-T;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Reference G cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GATTCCTTATCG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAgattccttatcgAGATCGAGACCCGACGC chr17:37756371-Reference-G;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Reference G cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GTATTCCGCGAG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAgtattccgcgagAGATCGAGACCCGACGC chr17:37756371-Reference-G;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Reference G cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CTTATGTGACGA CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccGgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAActtatgtgacgaAGATCGAGACCCGACGC chr17:37756371-Reference-G;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative C cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc AAGCAATGTGGT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAaagcaatgtggtAGATCGAGACCCGACGC chr17:37756371-Alternative-C;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative C cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CGTCGTTAGATA CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAcgtcgttagataAGATCGAGACCCGACGC chr17:37756371-Alternative-C;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative C cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc GGTTGCGTGACT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAggttgcgtgactAGATCGAGACCCGACGC chr17:37756371-Alternative-C;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Variant A cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CTAAGCGCACAT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAActaagcgcacatAGATCGAGACCCGACGC chr17:37756371-Variant-A;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Variant A cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc ATCGGATTGTGT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAatcggattgtgtAGATCGAGACCCGACGC chr17:37756371-Variant-A;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Variant A cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc ACGTGGTCGTAC CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAacgtggtcgtacAGATCGAGACCCGACGC chr17:37756371-Variant-A;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Variant A cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc CATGAAGCTCGG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAcatgaagctcggAGATCGAGACCCGACGC chr17:37756371-Variant-A;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Variant A cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc AAGACCAAGAAG CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccAgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAaagaccaagaagAGATCGAGACCCGACGC chr17:37756371-Variant-A;Patient-30 chr17:37756371-GA Inherited Patient-30 intergenic 0.000446 0.000513 NA NA NA NEUROD2 7803 Alternative C cgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtc AGAGTACGCGCT CGACGCGGTCTCTCTCTcgcatctccctcctgaaatccgttgccctccttcctgtgaacccagccccCgtcttggccttcttctcacgtccacactcccagggctggcgcccctgtcAGAGGGAGACGGACGTCTCAATAAagagtacgcgctAGATCGAGACCCGACGC chr17:37756371-Alternative-C;Patient-30 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative T tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataata CACGCAACATGA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAcacgcaacatgaAGATCGAGACCCGACGC chr17:37849979-Alternative-T;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative T tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataata GGTGAATTGACA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAggtgaattgacaAGATCGAGACCCGACGC chr17:37849979-Alternative-T;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative A tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGGCGTGGTCAT CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAaggcgtggtcatAGATCGAGACCCGACGC chr17:37849979-Alternative-A;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative A tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGATGATCGCTA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAagatgatcgctaAGATCGAGACCCGACGC chr17:37849979-Alternative-A;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative T tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataata ACTCCGCATAAG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAactccgcataagAGATCGAGACCCGACGC chr17:37849979-Alternative-T;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative A tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataata CTGGTTCTGTGC CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAActggttctgtgcAGATCGAGACCCGACGC chr17:37849979-Alternative-A;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative T tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataata ATTCATCGGCGG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAattcatcggcggAGATCGAGACCCGACGC chr17:37849979-Alternative-T;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative A tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataata ATCGTATGCCAA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAatcgtatgccaaAGATCGAGACCCGACGC chr17:37849979-Alternative-A;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative A tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataata ATCCTGATGACA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattAcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAatcctgatgacaAGATCGAGACCCGACGC chr17:37849979-Alternative-A;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Reference C tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataata GTGTCGGCCAAT CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAgtgtcggccaatAGATCGAGACCCGACGC chr17:37849979-Reference-C;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Reference C tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataata GTACACCTATGA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAgtacacctatgaAGATCGAGACCCGACGC chr17:37849979-Reference-C;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Reference C tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataata GTGTAATCAAGG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAgtgtaatcaaggAGATCGAGACCCGACGC chr17:37849979-Reference-C;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Reference C tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataata ATAGGCATTGTC CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAataggcattgtcAGATCGAGACCCGACGC chr17:37849979-Reference-C;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Reference C tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataata AAGGCTGAACGG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattCcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAaaggctgaacggAGATCGAGACCCGACGC chr17:37849979-Reference-C;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Alternative T tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGCTGTCAAGCG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattTcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAagctgtcaagcgAGATCGAGACCCGACGC chr17:37849979-Alternative-T;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Variant G tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataata GTCAATAGTTCG CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAgtcaatagttcgAGATCGAGACCCGACGC chr17:37849979-Variant-G;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Variant G tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGGACGGTTGCA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAaggacggttgcaAGATCGAGACCCGACGC chr17:37849979-Variant-G;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Variant G tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGTTCTGTCTAC CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAagttctgtctacAGATCGAGACCCGACGC chr17:37849979-Variant-G;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Variant G tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataata AGGTTGCGGCTT CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAaggttgcggcttAGATCGAGACCCGACGC chr17:37849979-Variant-G;Patient-69 chr17:37849979-CG DeNovo Patient-69 intronic ERBB2 NA 0.00016 -0.2 0.73 0 ERBB2 5585 Variant G tgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataata ACTACGTGCACA CGACGCGGTCTCTCTCTtgaacccgggaggcagaggttgcagtgagctgagattgcaccgttgcattGcagcctggacaacagagcgagactccatctcgaaaataaaataataataAGAGGGAGACGGACGTCTCAATAAactacgtgcacaAGATCGAGACCCGACGC chr17:37849979-Variant-G;Patient-69 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Reference C gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa CGGCCATTAGCT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAcggccattagctAGATCGAGACCCGACGC chr17:38076994-Reference-C;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Reference C gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa ACGCGGCGTATA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAacgcggcgtataAGATCGAGACCCGACGC chr17:38076994-Reference-C;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Variant T gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa CTCGGAAGTACG CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAActcggaagtacgAGATCGAGACCCGACGC chr17:38076994-Variant-T;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative A gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa AGCGTACATTCA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAagcgtacattcaAGATCGAGACCCGACGC chr17:38076994-Alternative-A;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Reference C gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa ACAGGCTCGTTC CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAacaggctcgttcAGATCGAGACCCGACGC chr17:38076994-Reference-C;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative A gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa ACGCGTACCTGT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAacgcgtacctgtAGATCGAGACCCGACGC chr17:38076994-Alternative-A;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative A gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GATACCGTTCGG CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgataccgttcggAGATCGAGACCCGACGC chr17:38076994-Alternative-A;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Variant T gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GAATCATGGAGA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgaatcatggagaAGATCGAGACCCGACGC chr17:38076994-Variant-T;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Reference C gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GGAACAAGGTGG CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAggaacaaggtggAGATCGAGACCCGACGC chr17:38076994-Reference-C;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Variant T gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GCATGCGTAGCA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgcatgcgtagcaAGATCGAGACCCGACGC chr17:38076994-Variant-T;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative G gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GTGCTCATCTAT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgtgctcatctatAGATCGAGACCCGACGC chr17:38076994-Alternative-G;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Reference C gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GGCCATGCTGAA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccCctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAggccatgctgaaAGATCGAGACCCGACGC chr17:38076994-Reference-C;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative A gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GCAGACGTAATA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgcagacgtaataAGATCGAGACCCGACGC chr17:38076994-Alternative-A;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative G gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GACTATGCTAGT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgactatgctagtAGATCGAGACCCGACGC chr17:38076994-Alternative-G;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative G gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa AGTACGTAACGC CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAagtacgtaacgcAGATCGAGACCCGACGC chr17:38076994-Alternative-G;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Variant T gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa CTCACATGAGAT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAActcacatgagatAGATCGAGACCCGACGC chr17:38076994-Variant-T;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative A gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa CAACGCAGTCAA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccActccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAcaacgcagtcaaAGATCGAGACCCGACGC chr17:38076994-Alternative-A;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative G gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa ACGCTAACTCAA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAacgctaactcaaAGATCGAGACCCGACGC chr17:38076994-Alternative-G;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Variant T gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa ATCTGATTGCGA CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccTctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAatctgattgcgaAGATCGAGACCCGACGC chr17:38076994-Variant-T;Patient-44 chr17:38076994-CT DeNovo Patient-44 intergenic NA 0.000513 0.16 5.23 0.44 GSDMA 42231 Alternative G gcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaa GTGTCTGATGAT CGACGCGGTCTCTCTCTgcaccacttgggaccctggctccacgtgtaaaccattgctggagtgtcccGctccttggccatggcacaggtcaccccagcctctggggccaaggcgcaaAGAGGGAGACGGACGTCTCAATAAgtgtctgatgatAGATCGAGACCCGACGC chr17:38076994-Alternative-G;Patient-44 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative G cccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc ATATAGCTGTGC CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAatatagctgtgcAGATCGAGACCCGACGC chr17:38230469-Alternative-G;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative G cccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc AGCGTTATTGAG CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAagcgttattgagAGATCGAGACCCGACGC chr17:38230469-Alternative-G;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative G cccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GCGTACTCATGC CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgcgtactcatgcAGATCGAGACCCGACGC chr17:38230469-Alternative-G;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Variant T cccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GATACTTCGGAT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgatacttcggatAGATCGAGACCCGACGC chr17:38230469-Variant-T;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative G cccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc ACACGTCCACGA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAacacgtccacgaAGATCGAGACCCGACGC chr17:38230469-Alternative-G;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative A cccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc CACGAATTACCA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAcacgaattaccaAGATCGAGACCCGACGC chr17:38230469-Alternative-A;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Variant T cccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc AGATAGCCAACA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAagatagccaacaAGATCGAGACCCGACGC chr17:38230469-Variant-T;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Variant T cccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc CGTTCACAGACG CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAcgttcacagacgAGATCGAGACCCGACGC chr17:38230469-Variant-T;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative G cccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc ACAGATCGTGAT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcGgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAacagatcgtgatAGATCGAGACCCGACGC chr17:38230469-Alternative-G;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative A cccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc ACGAATATGACG CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAacgaatatgacgAGATCGAGACCCGACGC chr17:38230469-Alternative-A;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Variant T cccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GGATCGGAGCAT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAggatcggagcatAGATCGAGACCCGACGC chr17:38230469-Variant-T;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative A cccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GTGCTTGGTGCA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgtgcttggtgcaAGATCGAGACCCGACGC chr17:38230469-Alternative-A;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Variant T cccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GTGTAACGTGTT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcTgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgtgtaacgtgttAGATCGAGACCCGACGC chr17:38230469-Variant-T;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative A cccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc CACGCGAAGTAA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAcacgcgaagtaaAGATCGAGACCCGACGC chr17:38230469-Alternative-A;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Reference C cccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GTGCTTCAGGAC CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgtgcttcaggacAGATCGAGACCCGACGC chr17:38230469-Reference-C;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Alternative A cccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GCGCATTATATC CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcAgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgcgcattatatcAGATCGAGACCCGACGC chr17:38230469-Alternative-A;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Reference C cccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc ACTACAACGACT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAactacaacgactAGATCGAGACCCGACGC chr17:38230469-Reference-C;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Reference C cccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GCGACTATATAC CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgcgactatatacAGATCGAGACCCGACGC chr17:38230469-Reference-C;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Reference C cccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc AAGGTTACCGAA CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAaaggttaccgaaAGATCGAGACCCGACGC chr17:38230469-Reference-C;Patient-92 chr17:38230469-CT Inherited Patient-92 5 prime UTR THRA NA 0.000479 -0.61 0.04 -7.89 THRA 12022 Reference C cccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgcc GACGCCAAGACT CGACGCGGTCTCTCTCTcccctgcctctctcttctctccacagggatctctggacaggacaagactcCgaagctactcccccagcacacagcccgggacccacaaacccagcttgccAGAGGGAGACGGACGTCTCAATAAgacgccaagactAGATCGAGACCCGACGC chr17:38230469-Reference-C;Patient-92 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative G ccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CGAAGCCGAATA CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcgaagccgaataAGATCGAGACCCGACGC chr17:38623834-Alternative-G;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative G ccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CTCACGTAACGG CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAActcacgtaacggAGATCGAGACCCGACGC chr17:38623834-Alternative-G;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative G ccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc ATTCATGCGTGA CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAattcatgcgtgaAGATCGAGACCCGACGC chr17:38623834-Alternative-G;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative G ccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc ACTCAACAACGG CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAactcaacaacggAGATCGAGACCCGACGC chr17:38623834-Alternative-G;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative G ccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc AAGAATCGGTAC CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggGtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAaagaatcggtacAGATCGAGACCCGACGC chr17:38623834-Alternative-G;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Variant T ccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CAAGTCGCAGGT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcaagtcgcaggtAGATCGAGACCCGACGC chr17:38623834-Variant-T;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Variant T ccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CTAATTCTGCCA CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAActaattctgccaAGATCGAGACCCGACGC chr17:38623834-Variant-T;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Variant T ccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc AACTCCGGATGG CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAaactccggatggAGATCGAGACCCGACGC chr17:38623834-Variant-T;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative A ccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CGGCGTAGATAC CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcggcgtagatacAGATCGAGACCCGACGC chr17:38623834-Alternative-A;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative A ccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CTATGAGAGCAT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAActatgagagcatAGATCGAGACCCGACGC chr17:38623834-Alternative-A;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative A ccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc GACGAACGGTAC CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAgacgaacggtacAGATCGAGACCCGACGC chr17:38623834-Alternative-A;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Variant T ccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc ACCGCCAGCTAT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAaccgccagctatAGATCGAGACCCGACGC chr17:38623834-Variant-T;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative A ccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc ACGTGCTATACT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAacgtgctatactAGATCGAGACCCGACGC chr17:38623834-Alternative-A;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Variant T ccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc AGTCGCACTTAA CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggTtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAagtcgcacttaaAGATCGAGACCCGACGC chr17:38623834-Variant-T;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Reference C ccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CACATAAGCCAA CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcacataagccaaAGATCGAGACCCGACGC chr17:38623834-Reference-C;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Reference C ccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CGAACGCGAATC CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcgaacgcgaatcAGATCGAGACCCGACGC chr17:38623834-Reference-C;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Reference C ccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc ACCGGCGAATGT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAaccggcgaatgtAGATCGAGACCCGACGC chr17:38623834-Reference-C;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Alternative A ccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CGAACTTCCGGT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggAtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcgaacttccggtAGATCGAGACCCGACGC chr17:38623834-Alternative-A;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Reference C ccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc CGGATCACGTTC CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAcggatcacgttcAGATCGAGACCCGACGC chr17:38623834-Reference-C;Patient-41 chr17:38623834-CT DeNovo Patient-41 intergenic NA 0.000513 0.36 7.91 0.76 CCR7 97901 Reference C ccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctc GAGCTCGGTCAT CGACGCGGTCTCTCTCTccccctgcccctcacacccccttgctctctggggccgctagccagactggCtgtattgcattcccttccaccacagggtctttgcacatgctggtccctcAGAGGGAGACGGACGTCTCAATAAgagctcggtcatAGATCGAGACCCGACGC chr17:38623834-Reference-C;Patient-41 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative A tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg AAGCAATGGTAC CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAaagcaatggtacAGATCGAGACCCGACGC chr17:38847193-Alternative-A;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Variant C tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg CGCACCATGTCA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAcgcaccatgtcaAGATCGAGACCCGACGC chr17:38847193-Variant-C;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative A tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg CTTACCTGACTA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAActtacctgactaAGATCGAGACCCGACGC chr17:38847193-Alternative-A;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Variant C tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GCGACATTGAAT CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgcgacattgaatAGATCGAGACCCGACGC chr17:38847193-Variant-C;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Variant C tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg ACCGAATTACGC CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAaccgaattacgcAGATCGAGACCCGACGC chr17:38847193-Variant-C;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Variant C tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg AGTAGATCCTGG CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAagtagatcctggAGATCGAGACCCGACGC chr17:38847193-Variant-C;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative A tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GGTTGTGTCTGG CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAggttgtgtctggAGATCGAGACCCGACGC chr17:38847193-Alternative-A;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative A tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GCATCCGAAGTT CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgcatccgaagttAGATCGAGACCCGACGC chr17:38847193-Alternative-A;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative A tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GAGCTCTGGTTC CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaAgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgagctctggttcAGATCGAGACCCGACGC chr17:38847193-Alternative-A;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Reference T tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg ACTCTGATTCGA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAactctgattcgaAGATCGAGACCCGACGC chr17:38847193-Reference-T;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Reference T tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GGTTGGAGCACA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAggttggagcacaAGATCGAGACCCGACGC chr17:38847193-Reference-T;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Variant C tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GCATACCTGTGC CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaCgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgcatacctgtgcAGATCGAGACCCGACGC chr17:38847193-Variant-C;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative G tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GTTGACATCGAA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgttgacatcgaaAGATCGAGACCCGACGC chr17:38847193-Alternative-G;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Reference T tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg ATAGTCGGCGAG CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAatagtcggcgagAGATCGAGACCCGACGC chr17:38847193-Reference-T;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative G tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GCGACGTTCTGA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAgcgacgttctgaAGATCGAGACCCGACGC chr17:38847193-Alternative-G;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative G tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg CGGAATCCTATA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAcggaatcctataAGATCGAGACCCGACGC chr17:38847193-Alternative-G;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative G tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg ACAATGAGGTCA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAacaatgaggtcaAGATCGAGACCCGACGC chr17:38847193-Alternative-G;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Alternative G tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg ACCTTCGCTAGA CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaGgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAaccttcgctagaAGATCGAGACCCGACGC chr17:38847193-Alternative-G;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Reference T tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GGAGGTTGTACG CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAggaggttgtacgAGATCGAGACCCGACGC chr17:38847193-Reference-T;Patient-52 chr17:38847193-TC DeNovo Patient-52 intergenic NA 0.000513 -0.35 0.25 -0.47 SMARCE1 43089 Reference T tctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttg GGTACATCATGG CGACGCGGTCTCTCTCTtctcctgcctcagactccctagtagctgggactgcaggcacccgccaccaTgcccaggtaatttttgtgtttttagtagagatggagtttcagcatgttgAGAGGGAGACGGACGTCTCAATAAggtacatcatggAGATCGAGACCCGACGC chr17:38847193-Reference-T;Patient-52 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Variant C acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac AGTGACAAGGTT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAagtgacaaggttAGATCGAGACCCGACGC chr17:39746140-Variant-C;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative A acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac ATAGCTAGGAGA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAatagctaggagaAGATCGAGACCCGACGC chr17:39746140-Alternative-A;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative T acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac GTGCGGTTCAAG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAgtgcggttcaagAGATCGAGACCCGACGC chr17:39746140-Alternative-T;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Variant C acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac GTTGATCAGTGT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAgttgatcagtgtAGATCGAGACCCGACGC chr17:39746140-Variant-C;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Variant C acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac GGTCTGTCAACG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAggtctgtcaacgAGATCGAGACCCGACGC chr17:39746140-Variant-C;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative T acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac GACATCACATGG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAgacatcacatggAGATCGAGACCCGACGC chr17:39746140-Alternative-T;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Variant C acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CGCGTACTTATA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAcgcgtacttataAGATCGAGACCCGACGC chr17:39746140-Variant-C;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative A acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac ACCTTCTTATGG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAaccttcttatggAGATCGAGACCCGACGC chr17:39746140-Alternative-A;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative A acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CATTAGTCGTGC CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAcattagtcgtgcAGATCGAGACCCGACGC chr17:39746140-Alternative-A;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative T acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac ACGCGATAACGC CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAacgcgataacgcAGATCGAGACCCGACGC chr17:39746140-Alternative-T;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Variant C acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac ACATGAGAAGCT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgCatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAacatgagaagctAGATCGAGACCCGACGC chr17:39746140-Variant-C;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative T acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac GGTTGTCTTCAT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAggttgtcttcatAGATCGAGACCCGACGC chr17:39746140-Alternative-T;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative T acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CGAAGCTCGGAA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgTatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAcgaagctcggaaAGATCGAGACCCGACGC chr17:39746140-Alternative-T;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Reference G acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CGTAATCGTACA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAcgtaatcgtacaAGATCGAGACCCGACGC chr17:39746140-Reference-G;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative A acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac AGTCGTCCGGAA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAagtcgtccggaaAGATCGAGACCCGACGC chr17:39746140-Alternative-A;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Reference G acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CTGAGTCAATGT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAActgagtcaatgtAGATCGAGACCCGACGC chr17:39746140-Reference-G;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Alternative A acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac AATCGACCTGCG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgAatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAaatcgacctgcgAGATCGAGACCCGACGC chr17:39746140-Alternative-A;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Reference G acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CGGATCGTATTA CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAcggatcgtattaAGATCGAGACCCGACGC chr17:39746140-Reference-G;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Reference G acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac AGTACGCTATGT CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAAagtacgctatgtAGATCGAGACCCGACGC chr17:39746140-Reference-G;Patient-55 chr17:39746140-GC Inherited Patient-55 intergenic 0.00086 0.00154 -0.04 2.03 -1.36 KRT16 22938 Reference G acagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaac CTTGCAAGTGCG CGACGCGGTCTCTCTCTacagtggctcacgaatataatcccagcactttgggaggccaaggcaggtgGatcacctgaggccaggagttcaagaccagcctggccaatatggtgaaacAGAGGGAGACGGACGTCTCAATAActtgcaagtgcgAGATCGAGACCCGACGC chr17:39746140-Reference-G;Patient-55 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Variant C cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg GAGGTTATTCAC CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAgaggttattcacAGATCGAGACCCGACGC chr17:39799199-Variant-C;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Variant C cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CAGCTAAGCAAG CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAcagctaagcaagAGATCGAGACCCGACGC chr17:39799199-Variant-C;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Variant C cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CACAACGAACTT CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAcacaacgaacttAGATCGAGACCCGACGC chr17:39799199-Variant-C;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative A cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CAATACGGCACG CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAcaatacggcacgAGATCGAGACCCGACGC chr17:39799199-Alternative-A;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Variant C cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg ACGTGGTAGTAA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAacgtggtagtaaAGATCGAGACCCGACGC chr17:39799199-Variant-C;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative A cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg AGATCAAGCGGT CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAagatcaagcggtAGATCGAGACCCGACGC chr17:39799199-Alternative-A;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative A cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg AGAAGAGCAACA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAagaagagcaacaAGATCGAGACCCGACGC chr17:39799199-Alternative-A;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Variant C cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg AGGAGAACGTTA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactCtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAaggagaacgttaAGATCGAGACCCGACGC chr17:39799199-Variant-C;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative A cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CAATTGCTCCTA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAcaattgctcctaAGATCGAGACCCGACGC chr17:39799199-Alternative-A;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative A cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CTCACATCGAAG CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactAtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAActcacatcgaagAGATCGAGACCCGACGC chr17:39799199-Alternative-A;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Reference G cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg AGGCGGAGAACT CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAaggcggagaactAGATCGAGACCCGACGC chr17:39799199-Reference-G;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Reference G cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CTCTTGTCCTAA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAActcttgtcctaaAGATCGAGACCCGACGC chr17:39799199-Reference-G;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Reference G cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg CGTCGAGTCGAT CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAcgtcgagtcgatAGATCGAGACCCGACGC chr17:39799199-Reference-G;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative T cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg ACTCCGGATCCA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAactccggatccaAGATCGAGACCCGACGC chr17:39799199-Alternative-T;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Reference G cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg AAGGCGACTGGT CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAaaggcgactggtAGATCGAGACCCGACGC chr17:39799199-Reference-G;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative T cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg GCGTCTGGCTTA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAgcgtctggcttaAGATCGAGACCCGACGC chr17:39799199-Alternative-T;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative T cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg ACCGTTACTCTA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAaccgttactctaAGATCGAGACCCGACGC chr17:39799199-Alternative-T;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative T cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg ACGCTGTGATTA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAacgctgtgattaAGATCGAGACCCGACGC chr17:39799199-Alternative-T;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Alternative T cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg GACCTTATCGAA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactTtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAgaccttatcgaaAGATCGAGACCCGACGC chr17:39799199-Alternative-T;Patient-78 chr17:39799199-GC DeNovo Patient-78 intergenic NA 0.000513 -0.24 0.53 -0.92 KRT16 30119 Reference G cgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtgg GGTGTAATAGCA CGACGCGGTCTCTCTCTcgcatttctttatctcctgttagttgagcacctactctgtgccaggtactGtctcagtctctgggaataaacaccacaaaccacatttttgctctcgtggAGAGGGAGACGGACGTCTCAATAAggtgtaatagcaAGATCGAGACCCGACGC chr17:39799199-Reference-G;Patient-78 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative C gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CTGCGCAATATA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAActgcgcaatataAGATCGAGACCCGACGC chr17:39831937-Alternative-C;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative C gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg AACACAGCTAGA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAaacacagctagaAGATCGAGACCCGACGC chr17:39831937-Alternative-C;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative C gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GATTAGACACAG CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgattagacacagAGATCGAGACCCGACGC chr17:39831937-Alternative-C;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative C gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CTCTTAGATGCT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAActcttagatgctAGATCGAGACCCGACGC chr17:39831937-Alternative-C;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative C gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg AACTTACGTCGA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggCtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAaacttacgtcgaAGATCGAGACCCGACGC chr17:39831937-Alternative-C;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Variant A gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CAGTCGTCGATA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAcagtcgtcgataAGATCGAGACCCGACGC chr17:39831937-Variant-A;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Variant A gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GAATCGGTATGT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgaatcggtatgtAGATCGAGACCCGACGC chr17:39831937-Variant-A;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Variant A gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GCAACTGAGTAA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgcaactgagtaaAGATCGAGACCCGACGC chr17:39831937-Variant-A;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Variant A gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg AACACCTTAACC CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAaacaccttaaccAGATCGAGACCCGACGC chr17:39831937-Variant-A;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative T gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CGAATAATCGGT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAcgaataatcggtAGATCGAGACCCGACGC chr17:39831937-Alternative-T;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Variant A gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg ACTATTCGTACC CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggAtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAactattcgtaccAGATCGAGACCCGACGC chr17:39831937-Variant-A;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative T gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CATTGACCGTGT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAcattgaccgtgtAGATCGAGACCCGACGC chr17:39831937-Alternative-T;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative T gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CTCAATTCGGTT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAActcaattcggttAGATCGAGACCCGACGC chr17:39831937-Alternative-T;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative T gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GAATCTCTTGCA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgaatctcttgcaAGATCGAGACCCGACGC chr17:39831937-Alternative-T;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Reference G gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg AAGTGCGATTGA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAaagtgcgattgaAGATCGAGACCCGACGC chr17:39831937-Reference-G;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Alternative T gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CTGAGAATAACG CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggTtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAActgagaataacgAGATCGAGACCCGACGC chr17:39831937-Alternative-T;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Reference G gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg CGATTATGACGC CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAcgattatgacgcAGATCGAGACCCGACGC chr17:39831937-Reference-G;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Reference G gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GCGAAGACCATC CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgcgaagaccatcAGATCGAGACCCGACGC chr17:39831937-Reference-G;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Reference G gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GATATGCGGCGT CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgatatgcggcgtAGATCGAGACCCGACGC chr17:39831937-Reference-G;Patient-54 chr17:39831937-GA Inherited Patient-54 intergenic 0.000102 0.000512821 0.4 8.43 0.36 EIF1 13189 Reference G gaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattg GTGCGGCTATCA CGACGCGGTCTCTCTCTgaggcggaggttgtagtgagcccagattgcatcattgcactccagcctggGtgacagagtgagaatctgtctcaaaaaaaaaaaaaaaaaaaaaaaattgAGAGGGAGACGGACGTCTCAATAAgtgcggctatcaAGATCGAGACCCGACGC chr17:39831937-Reference-G;Patient-54 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Variant C tgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CATCGAGCAGTC CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAcatcgagcagtcAGATCGAGACCCGACGC chr17:40322630-Variant-C;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Variant C tgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CTGCGAGCTAGA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAActgcgagctagaAGATCGAGACCCGACGC chr17:40322630-Variant-C;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative A tgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CAACGTCCAAGA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAcaacgtccaagaAGATCGAGACCCGACGC chr17:40322630-Alternative-A;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative A tgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg GTAGATATGTGG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAgtagatatgtggAGATCGAGACCCGACGC chr17:40322630-Alternative-A;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Variant C tgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg GTGTCGCATAAC CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAgtgtcgcataacAGATCGAGACCCGACGC chr17:40322630-Variant-C;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Reference T tgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CTCGGTAGGCTT CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAActcggtaggcttAGATCGAGACCCGACGC chr17:40322630-Reference-T;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative G tgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AAGTCGGAGCGT CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAaagtcggagcgtAGATCGAGACCCGACGC chr17:40322630-Alternative-G;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Variant C tgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AGATTAAGGCCA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAagattaaggccaAGATCGAGACCCGACGC chr17:40322630-Variant-C;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Reference T tgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg GACTGGTTGTCG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAgactggttgtcgAGATCGAGACCCGACGC chr17:40322630-Reference-T;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative G tgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AGGCGGACAAGT CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAaggcggacaagtAGATCGAGACCCGACGC chr17:40322630-Alternative-G;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Reference T tgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg ACGATCGACGTC CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAacgatcgacgtcAGATCGAGACCCGACGC chr17:40322630-Reference-T;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative G tgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CGTGTTCTCGAC CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAcgtgttctcgacAGATCGAGACCCGACGC chr17:40322630-Alternative-G;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Reference T tgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg ATCTAGGTGGAA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAatctaggtggaaAGATCGAGACCCGACGC chr17:40322630-Reference-T;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Reference T tgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg GTCAGGCAATAA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaTagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAgtcaggcaataaAGATCGAGACCCGACGC chr17:40322630-Reference-T;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative G tgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AATCAACGTAGG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAaatcaacgtaggAGATCGAGACCCGACGC chr17:40322630-Alternative-G;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative A tgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AGTACTACTACG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAagtactactacgAGATCGAGACCCGACGC chr17:40322630-Alternative-A;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Variant C tgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AGGTGGTATCGG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaCagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAaggtggtatcggAGATCGAGACCCGACGC chr17:40322630-Variant-C;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative A tgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg GGTAGACGTTCA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAggtagacgttcaAGATCGAGACCCGACGC chr17:40322630-Alternative-A;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative A tgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg CGTGGTTATCGG CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaAagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAcgtggttatcggAGATCGAGACCCGACGC chr17:40322630-Alternative-A;Patient-82 chr17:40322630-TC DeNovo Patient-82 intronic KCNH4 NA 9.9e-05 -0.08 1.56 -2.77 KCNH4 10665 Alternative G tgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtg AACAAGCGATGA CGACGCGGTCTCTCTCTtgttggggaattgacccagccaaacactctccctgccctggtggaacctaGagcctggaggggaaagagacatgacataaatcattacaggtgggaggtgAGAGGGAGACGGACGTCTCAATAAaacaagcgatgaAGATCGAGACCCGACGC chr17:40322630-Alternative-G;Patient-82 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative G taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc GCCGATCCTCTT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAgccgatcctcttAGATCGAGACCCGACGC chr17:40711337-Alternative-G;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative T taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CATTACGCTCAT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAcattacgctcatAGATCGAGACCCGACGC chr17:40711337-Alternative-T;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Variant A taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc AATGTGGAGTAC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAaatgtggagtacAGATCGAGACCCGACGC chr17:40711337-Variant-A;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative T taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc GACGCATATATC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAgacgcatatatcAGATCGAGACCCGACGC chr17:40711337-Alternative-T;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative G taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc ACTCTGAAGCTA CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAactctgaagctaAGATCGAGACCCGACGC chr17:40711337-Alternative-G;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Variant A taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CTCGCGATTAGG CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAActcgcgattaggAGATCGAGACCCGACGC chr17:40711337-Variant-A;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Variant A taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc ACATCGCACAAC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAacatcgcacaacAGATCGAGACCCGACGC chr17:40711337-Variant-A;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Reference C taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc GGCTGACCTCTT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAggctgacctcttAGATCGAGACCCGACGC chr17:40711337-Reference-C;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative G taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc AACGTGTGTTCA CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAaacgtgtgttcaAGATCGAGACCCGACGC chr17:40711337-Alternative-G;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative G taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc ACCAACTTGGAT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAaccaacttggatAGATCGAGACCCGACGC chr17:40711337-Alternative-G;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative T taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc AGGAGATAAGGT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAaggagataaggtAGATCGAGACCCGACGC chr17:40711337-Alternative-T;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative T taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CATAAGCGATGC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAcataagcgatgcAGATCGAGACCCGACGC chr17:40711337-Alternative-T;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative T taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc AGATAGCCACTT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaTtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAagatagccacttAGATCGAGACCCGACGC chr17:40711337-Alternative-T;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Reference C taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CTAGTACCAACC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAActagtaccaaccAGATCGAGACCCGACGC chr17:40711337-Reference-C;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Variant A taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CTGGTGTAACTA CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAActggtgtaactaAGATCGAGACCCGACGC chr17:40711337-Variant-A;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Alternative G taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc ATTCACTCGGAA CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaGtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAattcactcggaaAGATCGAGACCCGACGC chr17:40711337-Alternative-G;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Variant A taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc GTCTATCTCGGC CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaAtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAgtctatctcggcAGATCGAGACCCGACGC chr17:40711337-Variant-A;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Reference C taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc ATCGGAATGGAT CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAatcggaatggatAGATCGAGACCCGACGC chr17:40711337-Reference-C;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Reference C taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CGGACTTGATGG CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAcggacttgatggAGATCGAGACCCGACGC chr17:40711337-Reference-C;Patient-24 chr17:40711337-CA DeNovo Patient-24 intergenic NA 0.000513 0.56 9.95 0 COASY 2754 Reference C taaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaacc CGTTGTTCAGAA CGACGCGGTCTCTCTCTtaaaggccccaccctgcccagtgcagtggctcaggcctgtaatcccaacaCtttgggaggctgaagtgggaggactgcttgagttcaggagttggaaaccAGAGGGAGACGGACGTCTCAATAAcgttgttcagaaAGATCGAGACCCGACGC chr17:40711337-Reference-C;Patient-24 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative A cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ACCAACCGGACA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAaccaaccggacaAGATCGAGACCCGACGC chr17:41319075-Alternative-A;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative C cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GTCGCTTCTATA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgtcgcttctataAGATCGAGACCCGACGC chr17:41319075-Alternative-C;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Reference G cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag AAGACGCAACCG CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAaagacgcaaccgAGATCGAGACCCGACGC chr17:41319075-Reference-G;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative A cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag CAGTTCTAGCAA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAcagttctagcaaAGATCGAGACCCGACGC chr17:41319075-Alternative-A;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative A cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag CGACCAACCTGA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAcgaccaacctgaAGATCGAGACCCGACGC chr17:41319075-Alternative-A;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Reference G cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ATAGGTCTTGAC CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAataggtcttgacAGATCGAGACCCGACGC chr17:41319075-Reference-G;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative C cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag CGTTACGCCAAC CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAcgttacgccaacAGATCGAGACCCGACGC chr17:41319075-Alternative-C;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Reference G cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GGATGCGGCTAT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAggatgcggctatAGATCGAGACCCGACGC chr17:41319075-Reference-G;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Reference G cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ATCGTACTAGGT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAatcgtactaggtAGATCGAGACCCGACGC chr17:41319075-Reference-G;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Reference G cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ACACCTATAGCA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctGccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAacacctatagcaAGATCGAGACCCGACGC chr17:41319075-Reference-G;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative A cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag AGCCGTGTACAG CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAagccgtgtacagAGATCGAGACCCGACGC chr17:41319075-Alternative-A;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative C cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ACGCGTTGACAG CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAacgcgttgacagAGATCGAGACCCGACGC chr17:41319075-Alternative-C;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative C cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag CACAGATTCGAA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAcacagattcgaaAGATCGAGACCCGACGC chr17:41319075-Alternative-C;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Variant T cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag ACTACGCGATAT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAactacgcgatatAGATCGAGACCCGACGC chr17:41319075-Variant-T;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative A cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GATGACACGAAG CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctAccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgatgacacgaagAGATCGAGACCCGACGC chr17:41319075-Alternative-A;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Alternative C cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GTTAGACATGGT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctCccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgttagacatggtAGATCGAGACCCGACGC chr17:41319075-Alternative-C;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Variant T cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GGACGCATATAA CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAggacgcatataaAGATCGAGACCCGACGC chr17:41319075-Variant-T;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Variant T cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GATTCCGCGCAT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgattccgcgcatAGATCGAGACCCGACGC chr17:41319075-Variant-T;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Variant T cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GACAACGAACCT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgacaacgaacctAGATCGAGACCCGACGC chr17:41319075-Variant-T;Patient-10 chr17:41319075-GT DeNovo Patient-10 intergenic NA 0.000513 -0.11 1.33 0.05 BRCA1 41574 Variant T cccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccag GCGAAGCATCGT CGACGCGGTCTCTCTCTcccgttccttcccggtgttcagccactgcgttgatcctccatgggggcctTccatacagtgctctggcgaggcgtcccagtggggcaaatgcctaaccagAGAGGGAGACGGACGTCTCAATAAgcgaagcatcgtAGATCGAGACCCGACGC chr17:41319075-Variant-T;Patient-10 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative C ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc AACGCGGTATGC CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaacgcggtatgcAGATCGAGACCCGACGC chr17:41581705-Alternative-C;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Reference G ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGTTGTCTGTGC CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcgttgtctgtgcAGATCGAGACCCGACGC chr17:41581705-Reference-G;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Reference G ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGACTATAAGTC CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcgactataagtcAGATCGAGACCCGACGC chr17:41581705-Reference-G;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Reference G ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc GCGCTAATTAGT CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAgcgctaattagtAGATCGAGACCCGACGC chr17:41581705-Reference-G;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative T ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ACCTTATACGAG CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaccttatacgagAGATCGAGACCCGACGC chr17:41581705-Alternative-T;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Variant A ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ACCACAAGCTAA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaccacaagctaaAGATCGAGACCCGACGC chr17:41581705-Variant-A;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Reference G ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CAGCATTGACCA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcagcattgaccaAGATCGAGACCCGACGC chr17:41581705-Reference-G;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative T ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGGATGTGAAGG CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcggatgtgaaggAGATCGAGACCCGACGC chr17:41581705-Alternative-T;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Reference G ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ACTTCCGTCGCA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatGacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAacttccgtcgcaAGATCGAGACCCGACGC chr17:41581705-Reference-G;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative T ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGTGTGTCGGAA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcgtgtgtcggaaAGATCGAGACCCGACGC chr17:41581705-Alternative-T;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative T ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CAGTTCGATGAG CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcagttcgatgagAGATCGAGACCCGACGC chr17:41581705-Alternative-T;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative T ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ATTGAGTACCGT CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatTacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAattgagtaccgtAGATCGAGACCCGACGC chr17:41581705-Alternative-T;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Variant A ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc AAGCACGCAACT CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaagcacgcaactAGATCGAGACCCGACGC chr17:41581705-Variant-A;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Variant A ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ACTCCGTATGAA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAactccgtatgaaAGATCGAGACCCGACGC chr17:41581705-Variant-A;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative C ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc AACTTGCTCGAA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaacttgctcgaaAGATCGAGACCCGACGC chr17:41581705-Alternative-C;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative C ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc AGGCACGTAATA CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaggcacgtaataAGATCGAGACCCGACGC chr17:41581705-Alternative-C;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative C ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc GTTAACGTCCGG CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAgttaacgtccggAGATCGAGACCCGACGC chr17:41581705-Alternative-C;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Variant A ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGTAGGCCTCAT CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcgtaggcctcatAGATCGAGACCCGACGC chr17:41581705-Variant-A;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Variant A ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc ACCGTATGTAAC CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatAacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAaccgtatgtaacAGATCGAGACCCGACGC chr17:41581705-Variant-A;Patient-25 chr17:41581705-GA Inherited Patient-25 intronic DHX8 NA 4.95e-05 -0.12 1.19 -0.37 DHX8 20370 Alternative C ggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtc CGAACGGTGGAT CGACGCGGTCTCTCTCTggtcggggctgcagtgagtcaggattgcaccactgcactcccacttggatCacagagcaagaccctacctaaaaaaaaataattccagtgtcaagcagtcAGAGGGAGACGGACGTCTCAATAAcgaacggtggatAGATCGAGACCCGACGC chr17:41581705-Alternative-C;Patient-25 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Reference C aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ACAGCGCTGCAA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAacagcgctgcaaAGATCGAGACCCGACGC chr17:41652805-Reference-C;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative T aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GGCTAATTCGCG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAggctaattcgcgAGATCGAGACCCGACGC chr17:41652805-Alternative-T;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Reference C aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ACTCCTTATCGA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAactccttatcgaAGATCGAGACCCGACGC chr17:41652805-Reference-C;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Reference C aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ATCAAGCCGTGG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAatcaagccgtggAGATCGAGACCCGACGC chr17:41652805-Reference-C;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative A aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GTTCGTACGGAC CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgttcgtacggacAGATCGAGACCCGACGC chr17:41652805-Alternative-A;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Reference C aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GTCCGTGGTAAG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgtccgtggtaagAGATCGAGACCCGACGC chr17:41652805-Reference-C;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative T aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GAGGTGATATAC CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgaggtgatatacAGATCGAGACCCGACGC chr17:41652805-Alternative-T;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Reference C aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GCGACATTCTGG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcCcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgcgacattctggAGATCGAGACCCGACGC chr17:41652805-Reference-C;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative A aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ACAGGTGACGCA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAacaggtgacgcaAGATCGAGACCCGACGC chr17:41652805-Alternative-A;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Variant G aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat CGCTCTTAGCGA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAcgctcttagcgaAGATCGAGACCCGACGC chr17:41652805-Variant-G;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Variant G aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ATCATCCGATCA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAatcatccgatcaAGATCGAGACCCGACGC chr17:41652805-Variant-G;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative A aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GAGCAGGTAATT CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgagcaggtaattAGATCGAGACCCGACGC chr17:41652805-Alternative-A;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative A aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat CTAGCTGTCTTA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAActagctgtcttaAGATCGAGACCCGACGC chr17:41652805-Alternative-A;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative A aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GCATGGTTGTAA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcAcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAgcatggttgtaaAGATCGAGACCCGACGC chr17:41652805-Alternative-A;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Variant G aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat CAACGCCAAGCA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAcaacgccaagcaAGATCGAGACCCGACGC chr17:41652805-Variant-G;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative T aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat GGCTTATGTCGG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAggcttatgtcggAGATCGAGACCCGACGC chr17:41652805-Alternative-T;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Variant G aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ACGATAACGTCT CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAacgataacgtctAGATCGAGACCCGACGC chr17:41652805-Variant-G;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative T aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat CGATACGGACGA CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAcgatacggacgaAGATCGAGACCCGACGC chr17:41652805-Alternative-T;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Variant G aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat ATAAGTTGAGCG CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcGcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAataagttgagcgAGATCGAGACCCGACGC chr17:41652805-Variant-G;Patient-80 chr17:41652805-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.19 0.77 -1.23 ETV4 29004 Alternative T aggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaat CACGCAAGTAAC CGACGCGGTCTCTCTCTaggtaaagggcatcctcacagctccccccttccttctctcctgctgctgcTcgtgttgcttatgggaagtcagctgttatggggataggagtggttaaatAGAGGGAGACGGACGTCTCAATAAcacgcaagtaacAGATCGAGACCCGACGC chr17:41652805-Alternative-T;Patient-80 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative C ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacag ATTAAGCGGACA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAattaagcggacaAGATCGAGACCCGACGC chr17:41710849-Alternative-C;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative C ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacag CAGTATAAGGAC CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAcagtataaggacAGATCGAGACCCGACGC chr17:41710849-Alternative-C;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative C ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacag GCGCTCTTCGTT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgcgctcttcgttAGATCGAGACCCGACGC chr17:41710849-Alternative-C;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative C ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacag GAAGATAGGAGT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgaagataggagtAGATCGAGACCCGACGC chr17:41710849-Alternative-C;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative C ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacag GTTCTGGCGAGT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgCgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgttctggcgagtAGATCGAGACCCGACGC chr17:41710849-Alternative-C;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Variant A ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacag ACCTCATGCTAT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAacctcatgctatAGATCGAGACCCGACGC chr17:41710849-Variant-A;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Variant A ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacag CGAGTTACCATA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAcgagttaccataAGATCGAGACCCGACGC chr17:41710849-Variant-A;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Variant A ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacag CATGCTTCTCTT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAcatgcttctcttAGATCGAGACCCGACGC chr17:41710849-Variant-A;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Variant A ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacag GAGCCTAATCAA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgagcctaatcaaAGATCGAGACCCGACGC chr17:41710849-Variant-A;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Variant A ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacag GGCTGAACGGAT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgAgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAggctgaacggatAGATCGAGACCCGACGC chr17:41710849-Variant-A;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Reference T ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacag GACGGTGATAGA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgacggtgatagaAGATCGAGACCCGACGC chr17:41710849-Reference-T;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Reference T ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacag ATCGCGTTCCGT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAatcgcgttccgtAGATCGAGACCCGACGC chr17:41710849-Reference-T;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Reference T ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacag ACACCGATCAAT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAacaccgatcaatAGATCGAGACCCGACGC chr17:41710849-Reference-T;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Reference T ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacag AACGCCGCTAAG CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAaacgccgctaagAGATCGAGACCCGACGC chr17:41710849-Reference-T;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Reference T ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacag AGGAACACAGAA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgTgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAaggaacacagaaAGATCGAGACCCGACGC chr17:41710849-Reference-T;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative G ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacag GTCGCTGAACGT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgtcgctgaacgtAGATCGAGACCCGACGC chr17:41710849-Alternative-G;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative G ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacag AGATCAACACCG CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAagatcaacaccgAGATCGAGACCCGACGC chr17:41710849-Alternative-G;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative G ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacag ACTGCTTGTAGT CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAactgcttgtagtAGATCGAGACCCGACGC chr17:41710849-Alternative-G;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative G ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacag AATCGGCGCCTA CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAaatcggcgcctaAGATCGAGACCCGACGC chr17:41710849-Alternative-G;Patient-30 chr17:41710849-TA Inherited Patient-30 intergenic 0.000604 0.00103 NA NA NA ETV4 87048 Alternative G ggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacag GTTATCTTGTGC CGACGCGGTCTCTCTCTggaagagcactctgactagaatctggggtgtgtgtgtgtctgtgtgtgtgGgtgtgtgagagagagagagagagagagagagagacagacagactgacagAGAGGGAGACGGACGTCTCAATAAgttatcttgtgcAGATCGAGACCCGACGC chr17:41710849-Alternative-G;Patient-30 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative T ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat CACGATCTGTGG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAcacgatctgtggAGATCGAGACCCGACGC chr17:41855711-Alternative-T;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative T ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat AGGTTAATGACG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAaggttaatgacgAGATCGAGACCCGACGC chr17:41855711-Alternative-T;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative T ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat AGACGACAATGT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAagacgacaatgtAGATCGAGACCCGACGC chr17:41855711-Alternative-T;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Variant G ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat ATCTTAGTCTGG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAatcttagtctggAGATCGAGACCCGACGC chr17:41855711-Variant-G;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative T ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GAGTAGCGAACC CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgagtagcgaaccAGATCGAGACCCGACGC chr17:41855711-Alternative-T;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Reference A ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GTACGCTCAACG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgtacgctcaacgAGATCGAGACCCGACGC chr17:41855711-Reference-A;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative T ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat AGAGCAGCGTAC CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccTtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAagagcagcgtacAGATCGAGACCCGACGC chr17:41855711-Alternative-T;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Variant G ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GAGCTGATACTT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgagctgatacttAGATCGAGACCCGACGC chr17:41855711-Variant-G;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Reference A ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GCGTTCGGTAGT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgcgttcggtagtAGATCGAGACCCGACGC chr17:41855711-Reference-A;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Reference A ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat ACCTGACGCGTT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAacctgacgcgttAGATCGAGACCCGACGC chr17:41855711-Reference-A;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Variant G ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GGCTATACTCGG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAggctatactcggAGATCGAGACCCGACGC chr17:41855711-Variant-G;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Reference A ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GCATACGCTACG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgcatacgctacgAGATCGAGACCCGACGC chr17:41855711-Reference-A;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative C ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat CAAGTAGGTAGT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAcaagtaggtagtAGATCGAGACCCGACGC chr17:41855711-Alternative-C;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Reference A ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat ACCGTTGTGACG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccAtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAaccgttgtgacgAGATCGAGACCCGACGC chr17:41855711-Reference-A;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative C ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GTCAATCACGAC CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgtcaatcacgacAGATCGAGACCCGACGC chr17:41855711-Alternative-C;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative C ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat GCGCAATTGCCT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAgcgcaattgcctAGATCGAGACCCGACGC chr17:41855711-Alternative-C;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative C ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat CACGCTCATCAA CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAcacgctcatcaaAGATCGAGACCCGACGC chr17:41855711-Alternative-C;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Alternative C ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat AGTAACGCCGTC CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccCtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAagtaacgccgtcAGATCGAGACCCGACGC chr17:41855711-Alternative-C;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Variant G ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat ACCTTGACTGAT CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAaccttgactgatAGATCGAGACCCGACGC chr17:41855711-Variant-G;Patient-65 chr17:41855711-AG Inherited Patient-65 intronic DUSP3 6.4e-05 9.9e-05 0.66 10.74 0.06 DUSP3 656 Variant G ttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacat CGACGGAATCAG CGACGCGGTCTCTCTCTttggggtgtttaggttccctgatccgggactgccgggccgggaaaattccGtgcccgaattgtgacgtcggcccgttgccatggcggcgaaggcagacatAGAGGGAGACGGACGTCTCAATAAcgacggaatcagAGATCGAGACCCGACGC chr17:41855711-Variant-G;Patient-65 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Variant A ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagc GGTGTATCGTGC CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAggtgtatcgtgcAGATCGAGACCCGACGC chr17:41887449-Variant-A;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Reference G ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagc GGTACACGAATA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAggtacacgaataAGATCGAGACCCGACGC chr17:41887449-Reference-G;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative T ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagc AGGACGTTACGG CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAaggacgttacggAGATCGAGACCCGACGC chr17:41887449-Alternative-T;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative T ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CATCGTGTAACA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcatcgtgtaacaAGATCGAGACCCGACGC chr17:41887449-Alternative-T;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative T ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagc AGCCGACTACTA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAagccgactactaAGATCGAGACCCGACGC chr17:41887449-Alternative-T;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Reference G ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagc ATCGTCGCAGCA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAatcgtcgcagcaAGATCGAGACCCGACGC chr17:41887449-Reference-G;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative C ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CAGCGATTGTCG CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcagcgattgtcgAGATCGAGACCCGACGC chr17:41887449-Alternative-C;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative T ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CAGGTGTTCGAC CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcaggtgttcgacAGATCGAGACCCGACGC chr17:41887449-Alternative-T;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative C ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CGAGTGCGAACT CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcgagtgcgaactAGATCGAGACCCGACGC chr17:41887449-Alternative-C;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative C ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagc GGCTTGATGTGC CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAggcttgatgtgcAGATCGAGACCCGACGC chr17:41887449-Alternative-C;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative T ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagc ACCTAAGCGACT CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatTagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAacctaagcgactAGATCGAGACCCGACGC chr17:41887449-Alternative-T;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Reference G ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagc AATGATCGCCTA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAaatgatcgcctaAGATCGAGACCCGACGC chr17:41887449-Reference-G;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Variant A ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagc ATCTCGAGCCAT CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAatctcgagccatAGATCGAGACCCGACGC chr17:41887449-Variant-A;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Variant A ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CTTATGTCCGCG CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAActtatgtccgcgAGATCGAGACCCGACGC chr17:41887449-Variant-A;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Variant A ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CTTATTCGCGAA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAActtattcgcgaaAGATCGAGACCCGACGC chr17:41887449-Variant-A;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative C ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagc GATACGGCGCTA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAgatacggcgctaAGATCGAGACCCGACGC chr17:41887449-Alternative-C;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Variant A ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagc AACACGTAGCTT CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatAagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAaacacgtagcttAGATCGAGACCCGACGC chr17:41887449-Variant-A;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Alternative C ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CGACTTCGAATA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatCagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcgacttcgaataAGATCGAGACCCGACGC chr17:41887449-Alternative-C;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Reference G ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagc CATAGCATCGCG CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAcatagcatcgcgAGATCGAGACCCGACGC chr17:41887449-Reference-G;Patient-69 chr17:41887449-GA DeNovo Patient-69 intronic MPP3 0.000127 4.95e-05 0.38 8.17 3.85 MPP3 23097 Reference G ttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagc GTAAGGTCGATA CGACGCGGTCTCTCTCTttgaaactcagacttttaattttgatcactaactccctgtaagtccaaatGagtgttttcctttataggcataacgtgctttttggaatatatttcaagcAGAGGGAGACGGACGTCTCAATAAgtaaggtcgataAGATCGAGACCCGACGC chr17:41887449-Reference-G;Patient-69 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Variant G gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct CACGCAAGATCG CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAcacgcaagatcgAGATCGAGACCCGACGC chr17:42213906-Variant-G;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative T gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GTAGCGCGATCA CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgtagcgcgatcaAGATCGAGACCCGACGC chr17:42213906-Alternative-T;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Reference A gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct AGACCATGACCG CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAagaccatgaccgAGATCGAGACCCGACGC chr17:42213906-Reference-A;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Variant G gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GCAAGTCCGAAT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgcaagtccgaatAGATCGAGACCCGACGC chr17:42213906-Variant-G;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Variant G gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct AGATTCGAACAC CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAagattcgaacacAGATCGAGACCCGACGC chr17:42213906-Variant-G;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative T gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GTGCGGTTAATT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgtgcggttaattAGATCGAGACCCGACGC chr17:42213906-Alternative-T;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Reference A gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct CGTTCGACAGTT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAcgttcgacagttAGATCGAGACCCGACGC chr17:42213906-Reference-A;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Variant G gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GATGGAACGTAT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgatggaacgtatAGATCGAGACCCGACGC chr17:42213906-Variant-G;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative T gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct ATACGAAGTCGG CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAatacgaagtcggAGATCGAGACCCGACGC chr17:42213906-Alternative-T;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Reference A gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct ATATGCCGTGAT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAatatgccgtgatAGATCGAGACCCGACGC chr17:42213906-Reference-A;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Reference A gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GGTAGAACATCA CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAggtagaacatcaAGATCGAGACCCGACGC chr17:42213906-Reference-A;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Variant G gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct CGAAGAGTACAG CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcGccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAcgaagagtacagAGATCGAGACCCGACGC chr17:42213906-Variant-G;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative C gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct CACGAATTGAGT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAcacgaattgagtAGATCGAGACCCGACGC chr17:42213906-Alternative-C;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Reference A gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct ACGGCCTTATAA CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcAccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAacggccttataaAGATCGAGACCCGACGC chr17:42213906-Reference-A;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative C gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct AATGATGGTGGT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAaatgatggtggtAGATCGAGACCCGACGC chr17:42213906-Alternative-C;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative T gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct ACGCGGAGTCAT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAacgcggagtcatAGATCGAGACCCGACGC chr17:42213906-Alternative-T;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative C gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GTACGCGGACAT CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgtacgcggacatAGATCGAGACCCGACGC chr17:42213906-Alternative-C;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative C gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct ACCGCAGTATGG CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAaccgcagtatggAGATCGAGACCCGACGC chr17:42213906-Alternative-C;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative T gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct GACAACGCTAAC CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcTccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAgacaacgctaacAGATCGAGACCCGACGC chr17:42213906-Alternative-T;Patient-105 chr17:42213906-AG DeNovo Patient-105 intergenic 3.7e-05 0.000947867 -0.06 1.81 0 HDAC5 12891 Alternative C gagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctct CAGTCGAGAGCA CGACGCGGTCTCTCTCTgagtcttgctctgtctcccaggctggagtgcagtggcgtgatctcggctcCccgcaagctccgactcccgggttcacgtcattctcctgcctcagcctctAGAGGGAGACGGACGTCTCAATAAcagtcgagagcaAGATCGAGACCCGACGC chr17:42213906-Alternative-C;Patient-105 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative G tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ATAGCCAAGACA CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAatagccaagacaAGATCGAGACCCGACGC chr17:42276026-Alternative-G;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Variant T tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ACGGCAACGCTT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAacggcaacgcttAGATCGAGACCCGACGC chr17:42276026-Variant-T;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative C tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ACGTGTCCGAAT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAacgtgtccgaatAGATCGAGACCCGACGC chr17:42276026-Alternative-C;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Variant T tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CATTCGACGACG CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcattcgacgacgAGATCGAGACCCGACGC chr17:42276026-Variant-T;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative G tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CTCACCGAGTAC CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAActcaccgagtacAGATCGAGACCCGACGC chr17:42276026-Alternative-G;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Variant T tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaag GCAACTCATCTT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAgcaactcatcttAGATCGAGACCCGACGC chr17:42276026-Variant-T;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Variant T tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CAGAGCGGTTGT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcagagcggttgtAGATCGAGACCCGACGC chr17:42276026-Variant-T;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative G tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CGCCGAAGTAAC CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcgccgaagtaacAGATCGAGACCCGACGC chr17:42276026-Alternative-G;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative C tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaag GGTTACGATCAT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAggttacgatcatAGATCGAGACCCGACGC chr17:42276026-Alternative-C;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Variant T tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CTGCTCACTGGT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcTgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAActgctcactggtAGATCGAGACCCGACGC chr17:42276026-Variant-T;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative G tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaag AGAGCTGTCAAT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAagagctgtcaatAGATCGAGACCCGACGC chr17:42276026-Alternative-G;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative C tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaag GCCGTAACAGGT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAgccgtaacaggtAGATCGAGACCCGACGC chr17:42276026-Alternative-C;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative C tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ACTGTGGCGTCT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAactgtggcgtctAGATCGAGACCCGACGC chr17:42276026-Alternative-C;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative G tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaag GATGCGACAGGT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcGgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAgatgcgacaggtAGATCGAGACCCGACGC chr17:42276026-Alternative-G;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Reference A tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaag GCGTCGTATCGA CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAgcgtcgtatcgaAGATCGAGACCCGACGC chr17:42276026-Reference-A;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Reference A tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CGCTAACGCAGA CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcgctaacgcagaAGATCGAGACCCGACGC chr17:42276026-Reference-A;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Alternative C tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CAACACGACTTA CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcCgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcaacacgacttaAGATCGAGACCCGACGC chr17:42276026-Alternative-C;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Reference A tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ACTGTTCGAGAT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAactgttcgagatAGATCGAGACCCGACGC chr17:42276026-Reference-A;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Reference A tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaag ACGGTGTAACTT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAacggtgtaacttAGATCGAGACCCGACGC chr17:42276026-Reference-A;Patient-64 chr17:42276026-AT DeNovo Patient-64 intergenic NA 0.000513 1.14 14.12 1.02 UBTF 22967 Reference A tggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaag CAACGAGTCTGT CGACGCGGTCTCTCTCTtggccctaggaccctacaaccttcaccccactctgtcttcccttgaaatcAgcctgccactccacgaggggagcagagcccacaggagcctagagctaagAGAGGGAGACGGACGTCTCAATAAcaacgagtctgtAGATCGAGACCCGACGC chr17:42276026-Reference-A;Patient-64 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative G catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctat AACTAGTCTGAC CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAaactagtctgacAGATCGAGACCCGACGC chr17:42301114-Alternative-G;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative G catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctat CGCAGATATGTT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAcgcagatatgttAGATCGAGACCCGACGC chr17:42301114-Alternative-G;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative G catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctat AGTCCGTGTAAT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAagtccgtgtaatAGATCGAGACCCGACGC chr17:42301114-Alternative-G;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative G catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctat AGCGTCCATCGA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAagcgtccatcgaAGATCGAGACCCGACGC chr17:42301114-Alternative-G;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Reference T catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctat AAGAATGCGGAT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAaagaatgcggatAGATCGAGACCCGACGC chr17:42301114-Reference-T;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative G catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctat CTGGTGGACCAT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaGggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAActggtggaccatAGATCGAGACCCGACGC chr17:42301114-Alternative-G;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Reference T catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctat ACGAATCACCAC CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAacgaatcaccacAGATCGAGACCCGACGC chr17:42301114-Reference-T;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Reference T catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctat ATCGCTGTAACA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAatcgctgtaacaAGATCGAGACCCGACGC chr17:42301114-Reference-T;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Variant C catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctat CATCTTGTCGAT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAcatcttgtcgatAGATCGAGACCCGACGC chr17:42301114-Variant-C;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Reference T catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctat ATTCCTGTATCG CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAattcctgtatcgAGATCGAGACCCGACGC chr17:42301114-Reference-T;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Reference T catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctat AGCAGCTAAGCG CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaTggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAagcagctaagcgAGATCGAGACCCGACGC chr17:42301114-Reference-T;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative A catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctat CTTGCGTTCCGT CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAActtgcgttccgtAGATCGAGACCCGACGC chr17:42301114-Alternative-A;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Variant C catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctat CGAGTGGAATCA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAcgagtggaatcaAGATCGAGACCCGACGC chr17:42301114-Variant-C;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative A catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctat GTACTAGGTAGA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAgtactaggtagaAGATCGAGACCCGACGC chr17:42301114-Alternative-A;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Variant C catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctat ATTGCCATGCGC CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAattgccatgcgcAGATCGAGACCCGACGC chr17:42301114-Variant-C;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative A catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctat GGTTGGTCGTAC CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAggttggtcgtacAGATCGAGACCCGACGC chr17:42301114-Alternative-A;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative A catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctat GTTACTCATGCA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAgttactcatgcaAGATCGAGACCCGACGC chr17:42301114-Alternative-A;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Alternative A catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctat AGTACTACGAGA CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaAggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAagtactacgagaAGATCGAGACCCGACGC chr17:42301114-Alternative-A;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Variant C catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctat GTATCACGTGCG CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAgtatcacgtgcgAGATCGAGACCCGACGC chr17:42301114-Variant-C;Patient-22 chr17:42301114-TC Inherited Patient-22 intergenic 0.000541 0.00103 1.26 14.73 -2.08 UBTF 2119 Variant C catgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctat CGGTCGATTACG CGACGCGGTCTCTCTCTcatgaatcataagaatgagtatttattgattccttgggcagcaaaaactaCggctggcacccttcccacttggaaacgaattggcttgttttacatctatAGAGGGAGACGGACGTCTCAATAAcggtcgattacgAGATCGAGACCCGACGC chr17:42301114-Variant-C;Patient-22 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Reference G gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagc AGCAACGCTATT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAagcaacgctattAGATCGAGACCCGACGC chr17:42638003-Reference-G;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative T gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagc CTTGCTGACGTC CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAActtgctgacgtcAGATCGAGACCCGACGC chr17:42638003-Alternative-T;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative T gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagc AGATGTTCGACC CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAagatgttcgaccAGATCGAGACCCGACGC chr17:42638003-Alternative-T;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Variant A gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagc CTGCTACGACAC CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAActgctacgacacAGATCGAGACCCGACGC chr17:42638003-Variant-A;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative C gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagc GAGTAGTGCGCT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgagtagtgcgctAGATCGAGACCCGACGC chr17:42638003-Alternative-C;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative C gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagc CGTATAGGTGAA CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAcgtataggtgaaAGATCGAGACCCGACGC chr17:42638003-Alternative-C;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative T gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagc GTTCGTATCTGT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgttcgtatctgtAGATCGAGACCCGACGC chr17:42638003-Alternative-T;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Variant A gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagc AACTCGCATTCT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAaactcgcattctAGATCGAGACCCGACGC chr17:42638003-Variant-A;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Variant A gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagc ACGCCTAGATAT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAacgcctagatatAGATCGAGACCCGACGC chr17:42638003-Variant-A;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Variant A gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagc AGCTACAACAAG CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAagctacaacaagAGATCGAGACCCGACGC chr17:42638003-Variant-A;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative T gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagc CATTGGTGTGAT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAcattggtgtgatAGATCGAGACCCGACGC chr17:42638003-Alternative-T;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Variant A gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagc GTTACCGTGAAT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttAagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgttaccgtgaatAGATCGAGACCCGACGC chr17:42638003-Variant-A;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative T gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagc CTACGAATACCA CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttTagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAActacgaataccaAGATCGAGACCCGACGC chr17:42638003-Alternative-T;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative C gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagc GTTGTTCTTCCT CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgttgttcttcctAGATCGAGACCCGACGC chr17:42638003-Alternative-C;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative C gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagc GCCACTCCGATA CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgccactccgataAGATCGAGACCCGACGC chr17:42638003-Alternative-C;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Alternative C gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagc CAAGATAGCCAA CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttCagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAcaagatagccaaAGATCGAGACCCGACGC chr17:42638003-Alternative-C;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Reference G gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagc GTCGCAATTAGG CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgtcgcaattaggAGATCGAGACCCGACGC chr17:42638003-Reference-G;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Reference G gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagc GTCAGACCACAG CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgtcagaccacagAGATCGAGACCCGACGC chr17:42638003-Reference-G;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Reference G gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagc GAATGCAATAGG CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAgaatgcaataggAGATCGAGACCCGACGC chr17:42638003-Reference-G;Patient-25 chr17:42638003-GA Inherited Patient-25 3 prime UTR FZD2 NA 0.00016 1.63 16.43 4.94 FZD2 3190 Reference G gctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagc CGACGAGATGCA CGACGCGGTCTCTCTCTgctttagaagaagtctctggataggccctttgtggctgtgggggtgggttGagtgtttacattacattctatatcacaagattgataggatgtttaaagcAGAGGGAGACGGACGTCTCAATAAcgacgagatgcaAGATCGAGACCCGACGC chr17:42638003-Reference-G;Patient-25 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative T ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CACACAACACGT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAcacacaacacgtAGATCGAGACCCGACGC chr17:44202370-Alternative-T;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Variant G ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GTTATACGATGC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgttatacgatgcAGATCGAGACCCGACGC chr17:44202370-Variant-G;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Variant G ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggaggga AGGACGAGTTCG CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAaggacgagttcgAGATCGAGACCCGACGC chr17:44202370-Variant-G;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Variant G ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggaggga ATCTATCACGCT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAatctatcacgctAGATCGAGACCCGACGC chr17:44202370-Variant-G;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative T ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GCAGTCGTAATT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgcagtcgtaattAGATCGAGACCCGACGC chr17:44202370-Alternative-T;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative T ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CTATGACCGAAT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAActatgaccgaatAGATCGAGACCCGACGC chr17:44202370-Alternative-T;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Variant G ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GCAGGACGATAC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgcaggacgatacAGATCGAGACCCGACGC chr17:44202370-Variant-G;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative T ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CGTAACCGGTCT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAcgtaaccggtctAGATCGAGACCCGACGC chr17:44202370-Alternative-T;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Reference A ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CTTGGTTACGTT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAActtggttacgttAGATCGAGACCCGACGC chr17:44202370-Reference-A;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Variant G ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GCATGTCATCGG CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagGaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgcatgtcatcggAGATCGAGACCCGACGC chr17:44202370-Variant-G;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative T ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GACGGTACTACC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagTaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgacggtactaccAGATCGAGACCCGACGC chr17:44202370-Alternative-T;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Reference A ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CGGAGCGATCTT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAcggagcgatcttAGATCGAGACCCGACGC chr17:44202370-Reference-A;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Reference A ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggaggga ACGTATGAGCTA CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAacgtatgagctaAGATCGAGACCCGACGC chr17:44202370-Reference-A;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Reference A ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggaggga AGCGTACTCACG CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAagcgtactcacgAGATCGAGACCCGACGC chr17:44202370-Reference-A;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative C ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GTAAGCGAACAC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgtaagcgaacacAGATCGAGACCCGACGC chr17:44202370-Alternative-C;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Reference A ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CTTACCGGCTGT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagAaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAActtaccggctgtAGATCGAGACCCGACGC chr17:44202370-Reference-A;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative C ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggaggga GTTCTACTTCCT CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAgttctacttcctAGATCGAGACCCGACGC chr17:44202370-Alternative-C;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative C ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CTGGTCAGCTTA CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAActggtcagcttaAGATCGAGACCCGACGC chr17:44202370-Alternative-C;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative C ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CACGTACTCGTC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAcacgtactcgtcAGATCGAGACCCGACGC chr17:44202370-Alternative-C;Patient-28 chr17:44202370-AG DeNovo Patient-28 intronic KANSL1 5.3e-05 4.95e-05 -0.07 1.72 0 KANSL1 98803 Alternative C ataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggaggga CGAACTTACATC CGACGCGGTCTCTCTCTataactagaattagaaatcgagaattagaaggaaagaaagggaaggaaagCaagggaagggaagggaagggaggggaggtagggagggagggaggagggaAGAGGGAGACGGACGTCTCAATAAcgaacttacatcAGATCGAGACCCGACGC chr17:44202370-Alternative-C;Patient-28 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative C cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GTGGCCGTCTAA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgtggccgtctaaAGATCGAGACCCGACGC chr17:44246267-Alternative-C;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative C cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg CGTGCGCATTCT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAcgtgcgcattctAGATCGAGACCCGACGC chr17:44246267-Alternative-C;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative C cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg ATATGCGAACGG CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAatatgcgaacggAGATCGAGACCCGACGC chr17:44246267-Alternative-C;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative T cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GACCATTACGAG CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgaccattacgagAGATCGAGACCCGACGC chr17:44246267-Alternative-T;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Reference G cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GCATGCGGCTAA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgcatgcggctaaAGATCGAGACCCGACGC chr17:44246267-Reference-G;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative T cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg ACTCTCGCTTAA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAactctcgcttaaAGATCGAGACCCGACGC chr17:44246267-Alternative-T;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative C cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg AGAGCTCTGCCA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAagagctctgccaAGATCGAGACCCGACGC chr17:44246267-Alternative-C;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Reference G cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GCGTCCTGATAC CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgcgtcctgatacAGATCGAGACCCGACGC chr17:44246267-Reference-G;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Reference G cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GTACGCACCGAT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgtacgcaccgatAGATCGAGACCCGACGC chr17:44246267-Reference-G;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Variant A cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GCGGAACACATC CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgcggaacacatcAGATCGAGACCCGACGC chr17:44246267-Variant-A;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Reference G cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg AGGTAGTTCCTA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAaggtagttcctaAGATCGAGACCCGACGC chr17:44246267-Reference-G;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative C cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GGACTTCCTCGT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaCgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAggacttcctcgtAGATCGAGACCCGACGC chr17:44246267-Alternative-C;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative T cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg AACCGTGGAGAT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAaaccgtggagatAGATCGAGACCCGACGC chr17:44246267-Alternative-T;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Variant A cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg AGAATGGTTACG CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAagaatggttacgAGATCGAGACCCGACGC chr17:44246267-Variant-A;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Variant A cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg CGGTGGATTAAT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAcggtggattaatAGATCGAGACCCGACGC chr17:44246267-Variant-A;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative T cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GGCCGTACTAAG CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAggccgtactaagAGATCGAGACCCGACGC chr17:44246267-Alternative-T;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Alternative T cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg ACGGTGCGTAAC CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaTgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAacggtgcgtaacAGATCGAGACCCGACGC chr17:44246267-Alternative-T;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Variant A cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GGAACGATTGAA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAggaacgattgaaAGATCGAGACCCGACGC chr17:44246267-Variant-A;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Variant A cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GATGACATCGTT CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaAgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgatgacatcgttAGATCGAGACCCGACGC chr17:44246267-Variant-A;Patient-90 chr17:44246267-GA DeNovo Patient-90 intronic KANSL1 NA 4.95e-05 0.02 2.86 -4.12 KANSL1 54906 Reference G cattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcagg GATGTTCTCCTA CGACGCGGTCTCTCTCTcattatgtgagaagaatgctcagaactaagtagtgaatgaatggccttaaGgtttttccaagtcattaaactatcctacagaataagaaaaattctcaggAGAGGGAGACGGACGTCTCAATAAgatgttctcctaAGATCGAGACCCGACGC chr17:44246267-Reference-G;Patient-90 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Reference G tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CACATTCAGCTT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAcacattcagcttAGATCGAGACCCGACGC chr17:44575918-Reference-G;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Reference G tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GTGCGATGCACA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgtgcgatgcacaAGATCGAGACCCGACGC chr17:44575918-Reference-G;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Reference G tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc AGTTGTAATCGG CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAagttgtaatcggAGATCGAGACCCGACGC chr17:44575918-Reference-G;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative C tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc AAGTCTAGCCTT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAaagtctagccttAGATCGAGACCCGACGC chr17:44575918-Alternative-C;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative C tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CTACACCATCAT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAActacaccatcatAGATCGAGACCCGACGC chr17:44575918-Alternative-C;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative C tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GTGATACCTTGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgtgataccttgaAGATCGAGACCCGACGC chr17:44575918-Alternative-C;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative C tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GATTCGACGTAT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgattcgacgtatAGATCGAGACCCGACGC chr17:44575918-Alternative-C;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative T tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc AGGAGATCCGAC CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAaggagatccgacAGATCGAGACCCGACGC chr17:44575918-Alternative-T;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative C tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GTGCCGAGATGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatCtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgtgccgagatgaAGATCGAGACCCGACGC chr17:44575918-Alternative-C;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative T tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CGATACCTGGTT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAcgatacctggttAGATCGAGACCCGACGC chr17:44575918-Alternative-T;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Variant A tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GGTTCCATGCGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAggttccatgcgaAGATCGAGACCCGACGC chr17:44575918-Variant-A;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative T tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GTGTCCATAACA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgtgtccataacaAGATCGAGACCCGACGC chr17:44575918-Alternative-T;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Variant A tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CATTACTGACGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAcattactgacgaAGATCGAGACCCGACGC chr17:44575918-Variant-A;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative T tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GGATCTAGGCGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAggatctaggcgaAGATCGAGACCCGACGC chr17:44575918-Alternative-T;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Reference G tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CGGATTGTGTCG CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAcggattgtgtcgAGATCGAGACCCGACGC chr17:44575918-Reference-G;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Reference G tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc GACGACGTGCTT CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatGtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAgacgacgtgcttAGATCGAGACCCGACGC chr17:44575918-Reference-G;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Variant A tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CTAATAGGCATC CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAActaataggcatcAGATCGAGACCCGACGC chr17:44575918-Variant-A;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Variant A tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc AGCTGTACCGCA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAagctgtaccgcaAGATCGAGACCCGACGC chr17:44575918-Variant-A;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Alternative T tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc ACCTCCGTATTA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatTtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAacctccgtattaAGATCGAGACCCGACGC chr17:44575918-Alternative-T;Patient-22 chr17:44575918-GA Inherited Patient-22 intergenic NA 0.000243 0.21 6 0 NSF 92116 Variant A tttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggc CAACACCATCGA CGACGCGGTCTCTCTCTtttcagcgattcaagtaactacagaacatcgttaaagtactgagagaaatAtcaatccagaattctatatccagcaaaaatacccttcaacaattaaggcAGAGGGAGACGGACGTCTCAATAAcaacaccatcgaAGATCGAGACCCGACGC chr17:44575918-Variant-A;Patient-22 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Variant T acattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc GATCACGTGATT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAgatcacgtgattAGATCGAGACCCGACGC chr17:44808001-Variant-T;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Variant T acattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CAGTCGTCTGAG CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAcagtcgtctgagAGATCGAGACCCGACGC chr17:44808001-Variant-T;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Reference C acattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ATCGTGCTTACA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAatcgtgcttacaAGATCGAGACCCGACGC chr17:44808001-Reference-C;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Variant T acattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CAGTCCGAAGTC CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAcagtccgaagtcAGATCGAGACCCGACGC chr17:44808001-Variant-T;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative G acattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ATTACGTCGTGA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAattacgtcgtgaAGATCGAGACCCGACGC chr17:44808001-Alternative-G;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Reference C acattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CTGGTCCGTCTA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAActggtccgtctaAGATCGAGACCCGACGC chr17:44808001-Reference-C;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Variant T acattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc AGCGTTCAACCG CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAagcgttcaaccgAGATCGAGACCCGACGC chr17:44808001-Variant-T;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative G acattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc GTGAGGCGTACT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAgtgaggcgtactAGATCGAGACCCGACGC chr17:44808001-Alternative-G;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Variant T acattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc GTTGTTGCATGA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataTgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAgttgttgcatgaAGATCGAGACCCGACGC chr17:44808001-Variant-T;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative A acattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc AGGTGCGTTCGT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAaggtgcgttcgtAGATCGAGACCCGACGC chr17:44808001-Alternative-A;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative A acattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ACTCAAGTCGAC CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAactcaagtcgacAGATCGAGACCCGACGC chr17:44808001-Alternative-A;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative G acattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ACGTGTTCCATT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAacgtgttccattAGATCGAGACCCGACGC chr17:44808001-Alternative-G;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative G acattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CTATCAGACAAC CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAActatcagacaacAGATCGAGACCCGACGC chr17:44808001-Alternative-G;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Reference C acattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc GGCTAACATTGA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAggctaacattgaAGATCGAGACCCGACGC chr17:44808001-Reference-C;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative A acattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CTACACGTGAAC CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAActacacgtgaacAGATCGAGACCCGACGC chr17:44808001-Alternative-A;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative A acattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CGATTCCTGTTA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAcgattcctgttaAGATCGAGACCCGACGC chr17:44808001-Alternative-A;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative G acattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ACTTGCACAGTT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataGgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAacttgcacagttAGATCGAGACCCGACGC chr17:44808001-Alternative-G;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Reference C acattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc AGCCGACAACGT CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAagccgacaacgtAGATCGAGACCCGACGC chr17:44808001-Reference-C;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Reference C acattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc CACACATCGTAA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataCgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAcacacatcgtaaAGATCGAGACCCGACGC chr17:44808001-Reference-C;Patient-21 chr17:44808001-CT DeNovo Patient-21 intronic NSF NA 4.95e-05 -0.12 1.24 -4.37 WNT3 88124 Alternative A acattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtc ACGATGAGTCAA CGACGCGGTCTCTCTCTacattatcttatgcttttaaatctcacagccaatggcatagaggcttataAgtacatgcttcacaaataccttatcaacaaaaaaaaatttttcagtgtcAGAGGGAGACGGACGTCTCAATAAacgatgagtcaaAGATCGAGACCCGACGC chr17:44808001-Alternative-A;Patient-21 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative T gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACTACCGCGCTT CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAactaccgcgcttAGATCGAGACCCGACGC chr17:4481644-Alternative-T;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Variant A gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GGCCGATTGAGA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAggccgattgagaAGATCGAGACCCGACGC chr17:4481644-Variant-A;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Reference G gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GATAGCGCTGAG CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgatagcgctgagAGATCGAGACCCGACGC chr17:4481644-Reference-G;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Reference G gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc CTTACGCAATCA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAActtacgcaatcaAGATCGAGACCCGACGC chr17:4481644-Reference-G;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative C gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc AACCGCATCTAA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAaaccgcatctaaAGATCGAGACCCGACGC chr17:4481644-Alternative-C;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative C gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GTACACTTAACG CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgtacacttaacgAGATCGAGACCCGACGC chr17:4481644-Alternative-C;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative T gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACGCTATTACGA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAacgctattacgaAGATCGAGACCCGACGC chr17:4481644-Alternative-T;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Variant A gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACTGCGAAGACA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAactgcgaagacaAGATCGAGACCCGACGC chr17:4481644-Variant-A;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative T gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GCAACGATGACG CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgcaacgatgacgAGATCGAGACCCGACGC chr17:4481644-Alternative-T;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative T gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACGTAACTCGCT CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAacgtaactcgctAGATCGAGACCCGACGC chr17:4481644-Alternative-T;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative C gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACTCGGCTGTGA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAactcggctgtgaAGATCGAGACCCGACGC chr17:4481644-Alternative-C;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Variant A gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GACTAACAACGA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgactaacaacgaAGATCGAGACCCGACGC chr17:4481644-Variant-A;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative T gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GTCTATCCTACA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccTggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgtctatcctacaAGATCGAGACCCGACGC chr17:4481644-Alternative-T;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Reference G gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc CGCATTCATTGA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAcgcattcattgaAGATCGAGACCCGACGC chr17:4481644-Reference-G;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Reference G gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ATCGGCACCATC CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAatcggcaccatcAGATCGAGACCCGACGC chr17:4481644-Reference-G;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Reference G gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GCATAGTTGTGT CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccGggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgcatagttgtgtAGATCGAGACCCGACGC chr17:4481644-Reference-G;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Variant A gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc GCGTTCAGAATT CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAgcgttcagaattAGATCGAGACCCGACGC chr17:4481644-Variant-A;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Variant A gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc ACAATAGGTCCT CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccAggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAacaataggtcctAGATCGAGACCCGACGC chr17:4481644-Variant-A;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative C gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc CGGCATCGGTAA CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAcggcatcggtaaAGATCGAGACCCGACGC chr17:4481644-Alternative-C;Patient-97 chr17:4481644-GA DeNovo Patient-97 intergenic 6.4e-05 0.000976 -0.11 1.35 0 GGT6 17767 Alternative C gcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgcc CGAGTTATTACG CGACGCGGTCTCTCTCTgcccgttctcaatgagctgttgggtacacctcccagacggggtggtggccCggcagaggggctcctcacttcccagtaggggcggccaggcagaggcgccAGAGGGAGACGGACGTCTCAATAAcgagttattacgAGATCGAGACCCGACGC chr17:4481644-Alternative-C;Patient-97 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative T caccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa AGCTCCGCAAGA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAagctccgcaagaAGATCGAGACCCGACGC chr17:44866623-Alternative-T;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Variant G caccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa GCGTATCTAACT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAgcgtatctaactAGATCGAGACCCGACGC chr17:44866623-Variant-G;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative C caccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa ACTACGAACGGC CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAactacgaacggcAGATCGAGACCCGACGC chr17:44866623-Alternative-C;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative T caccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CAACTGGTACAG CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcaactggtacagAGATCGAGACCCGACGC chr17:44866623-Alternative-T;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative T caccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CGTGTGACGTCA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcgtgtgacgtcaAGATCGAGACCCGACGC chr17:44866623-Alternative-T;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Variant G caccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa ACTAACCGAGTT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAactaaccgagttAGATCGAGACCCGACGC chr17:44866623-Variant-G;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Variant G caccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa GTGCGGTAGCTA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAgtgcggtagctaAGATCGAGACCCGACGC chr17:44866623-Variant-G;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative T caccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CGTAGTTGCGCT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcgtagttgcgctAGATCGAGACCCGACGC chr17:44866623-Alternative-T;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative T caccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CGGCGAGTATGT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctTcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcggcgagtatgtAGATCGAGACCCGACGC chr17:44866623-Alternative-T;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Variant G caccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CGACGATATAGA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcgacgatatagaAGATCGAGACCCGACGC chr17:44866623-Variant-G;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Reference A caccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa ACTAGCGGTCGA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAactagcggtcgaAGATCGAGACCCGACGC chr17:44866623-Reference-A;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Variant G caccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa ACTTACGCAACA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctGcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAacttacgcaacaAGATCGAGACCCGACGC chr17:44866623-Variant-G;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Reference A caccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa GGTACAGTGTGG CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAggtacagtgtggAGATCGAGACCCGACGC chr17:44866623-Reference-A;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Reference A caccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CTCACATGAATC CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAActcacatgaatcAGATCGAGACCCGACGC chr17:44866623-Reference-A;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative C caccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa ATATTAGGCGCA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAatattaggcgcaAGATCGAGACCCGACGC chr17:44866623-Alternative-C;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative C caccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa GCCGTATGTAAT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAgccgtatgtaatAGATCGAGACCCGACGC chr17:44866623-Alternative-C;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative C caccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CGAGCGATTCAC CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcgagcgattcacAGATCGAGACCCGACGC chr17:44866623-Alternative-C;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Reference A caccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa CAAGTTACACCA CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAcaagttacaccaAGATCGAGACCCGACGC chr17:44866623-Reference-A;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Reference A caccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa AGTCGTGTAACT CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctAcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAagtcgtgtaactAGATCGAGACCCGACGC chr17:44866623-Reference-A;Patient-92 chr17:44866623-AG Inherited Patient-92 intronic WNT3 0.000383 0.000167631 -0.31 0.34 -5.38 WNT3 29502 Alternative C caccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaa GAGCAATCAACC CGACGCGGTCTCTCTCTcaccctccctgcctcacacctgatagcactggccaccagggctggcacctCcctggactgtcccatccactctcttattctatgctcttcagaaaaccaaAGAGGGAGACGGACGTCTCAATAAgagcaatcaaccAGATCGAGACCCGACGC chr17:44866623-Alternative-C;Patient-92 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative G atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat GTGCTTGCGCTA CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAgtgcttgcgctaAGATCGAGACCCGACGC chr17:44907468-Alternative-G;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative G atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat ACGACTGCCGAA CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAacgactgccgaaAGATCGAGACCCGACGC chr17:44907468-Alternative-G;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Variant T atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CAGGTCGGCATT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAcaggtcggcattAGATCGAGACCCGACGC chr17:44907468-Variant-T;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative G atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AGATAACGGCTT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAagataacggcttAGATCGAGACCCGACGC chr17:44907468-Alternative-G;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Variant T atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat ATCGGTTCCGAC CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAatcggttccgacAGATCGAGACCCGACGC chr17:44907468-Variant-T;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Variant T atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CAATAGCGTGCG CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAcaatagcgtgcgAGATCGAGACCCGACGC chr17:44907468-Variant-T;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative A atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AGCCGATTGTAA CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAagccgattgtaaAGATCGAGACCCGACGC chr17:44907468-Alternative-A;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Variant T atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat ACACCGTTGTGG CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAacaccgttgtggAGATCGAGACCCGACGC chr17:44907468-Variant-T;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative G atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AATGGCTAAGGT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAaatggctaaggtAGATCGAGACCCGACGC chr17:44907468-Alternative-G;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Reference C atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat GATTGGAATCGA CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAgattggaatcgaAGATCGAGACCCGACGC chr17:44907468-Reference-C;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Variant T atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AGTCGCGAAGCT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttTccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAagtcgcgaagctAGATCGAGACCCGACGC chr17:44907468-Variant-T;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative A atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat GTAACTATGCGA CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAgtaactatgcgaAGATCGAGACCCGACGC chr17:44907468-Alternative-A;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Reference C atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AATATGGTCGTC CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAaatatggtcgtcAGATCGAGACCCGACGC chr17:44907468-Reference-C;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative A atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat AATACCGGACGC CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAaataccggacgcAGATCGAGACCCGACGC chr17:44907468-Alternative-A;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative A atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CTTAAGGCGCAC CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAActtaaggcgcacAGATCGAGACCCGACGC chr17:44907468-Alternative-A;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative A atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CTTACCGCGGAT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttAccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAActtaccgcggatAGATCGAGACCCGACGC chr17:44907468-Alternative-A;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Reference C atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat GTTGAACAGCGG CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAgttgaacagcggAGATCGAGACCCGACGC chr17:44907468-Reference-C;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Reference C atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CATTACGCGTGC CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAcattacgcgtgcAGATCGAGACCCGACGC chr17:44907468-Reference-C;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Reference C atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat GTCTCGCATAAT CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttCccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAAgtctcgcataatAGATCGAGACCCGACGC chr17:44907468-Reference-C;Patient-25 chr17:44907468-CT Inherited Patient-25 intergenic NA 0.000243 0.05 3.51 1.25 WNT3 11341 Alternative G atcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcat CTGAAGTATACG CGACGCGGTCTCTCTCTatcctaaccaggctgtcttagtgattgaggactgttggtgacgagatgttGccagctctcttgcttttctcagactgcccaaaagccttcctcccctcatAGAGGGAGACGGACGTCTCAATAActgaagtatacgAGATCGAGACCCGACGC chr17:44907468-Alternative-G;Patient-25 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Reference C cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc ATTGGCCGCAGA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAattggccgcagaAGATCGAGACCCGACGC chr17:44966665-Reference-C;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Reference C cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AACAGCGAAGAT CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaacagcgaagatAGATCGAGACCCGACGC chr17:44966665-Reference-C;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative G cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GCCTTATAAGCA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgccttataagcaAGATCGAGACCCGACGC chr17:44966665-Alternative-G;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Variant T cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GTCGGAAGGAGA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgtcggaaggagaAGATCGAGACCCGACGC chr17:44966665-Variant-T;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative A cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AATGGCATCAAG CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaatggcatcaagAGATCGAGACCCGACGC chr17:44966665-Alternative-A;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative A cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc CACGACGTTGCA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAcacgacgttgcaAGATCGAGACCCGACGC chr17:44966665-Alternative-A;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative A cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc CGATGTGCAGTC CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAcgatgtgcagtcAGATCGAGACCCGACGC chr17:44966665-Alternative-A;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative G cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc ACCACAATCCGA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaccacaatccgaAGATCGAGACCCGACGC chr17:44966665-Alternative-G;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative G cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc CAACCTGGTATA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAcaacctggtataAGATCGAGACCCGACGC chr17:44966665-Alternative-G;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative A cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc CTAATGCGTACC CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAActaatgcgtaccAGATCGAGACCCGACGC chr17:44966665-Alternative-A;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Variant T cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GCGTTGCTCGAT CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgcgttgctcgatAGATCGAGACCCGACGC chr17:44966665-Variant-T;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Variant T cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AGGTTATCCGAA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaggttatccgaaAGATCGAGACCCGACGC chr17:44966665-Variant-T;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Variant T cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc CGTAACTCTTGT CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAcgtaactcttgtAGATCGAGACCCGACGC chr17:44966665-Variant-T;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Variant T cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GAAGTGATCCGC CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgTcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgaagtgatccgcAGATCGAGACCCGACGC chr17:44966665-Variant-T;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative G cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GTGTTCGCAACG CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgtgttcgcaacgAGATCGAGACCCGACGC chr17:44966665-Alternative-G;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Reference C cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc GAGTTAGGCTTA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAgagttaggcttaAGATCGAGACCCGACGC chr17:44966665-Reference-C;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative G cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc ATATACAGACGC CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgGcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAatatacagacgcAGATCGAGACCCGACGC chr17:44966665-Alternative-G;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Reference C cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AACGGTATGAGT CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaacggtatgagtAGATCGAGACCCGACGC chr17:44966665-Reference-C;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Alternative A cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AACTCTTCGCTT CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgActtagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaactcttcgcttAGATCGAGACCCGACGC chr17:44966665-Alternative-A;Patient-33 chr17:44966665-CT DeNovo Patient-33 intergenic NA 0.000243 NA NA NA WNT3 70538 Reference C cactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagc AAGGTGTTCAGA CGACGCGGTCTCTCTCTcactcactcagagatgtccccttcagaatcaggacctctgggtatgactgCcttagccaggcaggaagtgcctccctgggcgtggcgggggtggctcagcAGAGGGAGACGGACGTCTCAATAAaaggtgttcagaAGATCGAGACCCGACGC chr17:44966665-Reference-C;Patient-33 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative C ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttatta AGCATATGCCAA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAagcatatgccaaAGATCGAGACCCGACGC chr17:4530449-Alternative-C;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative C ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttatta CGTAGCTAACCG CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAcgtagctaaccgAGATCGAGACCCGACGC chr17:4530449-Alternative-C;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Variant A ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttatta CGGAGCTAACAG CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAcggagctaacagAGATCGAGACCCGACGC chr17:4530449-Variant-A;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Variant A ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttatta CGAACGTGCGTT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAcgaacgtgcgttAGATCGAGACCCGACGC chr17:4530449-Variant-A;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Variant A ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttatta GCGGAGAAGTGT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgcggagaagtgtAGATCGAGACCCGACGC chr17:4530449-Variant-A;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative T ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttatta GTGAACAGAGAA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgtgaacagagaaAGATCGAGACCCGACGC chr17:4530449-Alternative-T;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative C ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttatta CTCGTCCTACGA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAActcgtcctacgaAGATCGAGACCCGACGC chr17:4530449-Alternative-C;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Variant A ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttatta GGCGACTATATT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAggcgactatattAGATCGAGACCCGACGC chr17:4530449-Variant-A;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Variant A ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttatta GATTGCGACGAG CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcAtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgattgcgacgagAGATCGAGACCCGACGC chr17:4530449-Variant-A;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative C ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttatta ATCGCAATACGT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAatcgcaatacgtAGATCGAGACCCGACGC chr17:4530449-Alternative-C;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative T ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttatta GTCGTTGGTATA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgtcgttggtataAGATCGAGACCCGACGC chr17:4530449-Alternative-T;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative T ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttatta CGGATTATGCTA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAcggattatgctaAGATCGAGACCCGACGC chr17:4530449-Alternative-T;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative C ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttatta CAGGTGGACGAT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcCtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAcaggtggacgatAGATCGAGACCCGACGC chr17:4530449-Alternative-C;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Reference G ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttatta AGTAACGTGACA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAagtaacgtgacaAGATCGAGACCCGACGC chr17:4530449-Reference-G;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative T ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttatta AGATGGTATGGT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAagatggtatggtAGATCGAGACCCGACGC chr17:4530449-Alternative-T;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Reference G ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttatta GACCGTTGTGCA CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgaccgttgtgcaAGATCGAGACCCGACGC chr17:4530449-Reference-G;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Alternative T ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttatta GGCCAACCTGTT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcTtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAggccaacctgttAGATCGAGACCCGACGC chr17:4530449-Alternative-T;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Reference G ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttatta AGCTAACTCGCT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAagctaactcgctAGATCGAGACCCGACGC chr17:4530449-Reference-G;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Reference G ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttatta GTAGTCCGGCAT CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgtagtccggcatAGATCGAGACCCGACGC chr17:4530449-Reference-G;Patient-71 chr17:4530449-GA DeNovo Patient-71 intergenic 6.4e-05 0.00103 -0.41 0.17 -1.14 ALOX15 14510 Reference G ttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttatta GATAGCAGAATC CGACGCGGTCTCTCTCTttgagaagagtctacataaacaaacaaatggaagagagataactgttctcGtccattaatttctcccatatattcctaaacactttcttacagtttattaAGAGGGAGACGGACGTCTCAATAAgatagcagaatcAGATCGAGACCCGACGC chr17:4530449-Reference-G;Patient-71 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Reference T aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat GTTCATAGGCGC CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAgttcataggcgcAGATCGAGACCCGACGC chr17:46088429-Reference-T;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Reference T aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CATCTCATTACG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcatctcattacgAGATCGAGACCCGACGC chr17:46088429-Reference-T;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative G aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CGACTCATAGCG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcgactcatagcgAGATCGAGACCCGACGC chr17:46088429-Alternative-G;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative G aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat ACAACGGACCAC CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAacaacggaccacAGATCGAGACCCGACGC chr17:46088429-Alternative-G;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative A aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AGGACGTCGCTT CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAaggacgtcgcttAGATCGAGACCCGACGC chr17:46088429-Alternative-A;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative A aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat GCAATCCGTTAT CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAgcaatccgttatAGATCGAGACCCGACGC chr17:46088429-Alternative-A;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative A aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AATATATGGCCG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAaatatatggccgAGATCGAGACCCGACGC chr17:46088429-Alternative-A;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative A aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CAGCGCTCATGA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcagcgctcatgaAGATCGAGACCCGACGC chr17:46088429-Alternative-A;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative A aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CTGTCGACATGG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaAgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAActgtcgacatggAGATCGAGACCCGACGC chr17:46088429-Alternative-A;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Reference T aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat ATTATTCGGCAG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAattattcggcagAGATCGAGACCCGACGC chr17:46088429-Reference-T;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Reference T aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AAGGCGCTAGTC CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAaaggcgctagtcAGATCGAGACCCGACGC chr17:46088429-Reference-T;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative G aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AAGGCTCTATCA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAaaggctctatcaAGATCGAGACCCGACGC chr17:46088429-Alternative-G;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Reference T aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat GATTCTAACGCA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaTgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAgattctaacgcaAGATCGAGACCCGACGC chr17:46088429-Reference-T;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative G aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CAAGATACTACG CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcaagatactacgAGATCGAGACCCGACGC chr17:46088429-Alternative-G;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Alternative G aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CTACGCGACTAA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaGgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAActacgcgactaaAGATCGAGACCCGACGC chr17:46088429-Alternative-G;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Variant C aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AACTCCGGAGCA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAaactccggagcaAGATCGAGACCCGACGC chr17:46088429-Variant-C;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Variant C aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CGTCCACGTGTT CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcgtccacgtgttAGATCGAGACCCGACGC chr17:46088429-Variant-C;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Variant C aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat GGCAAGCGATAA CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAggcaagcgataaAGATCGAGACCCGACGC chr17:46088429-Variant-C;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Variant C aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat AGTGTCGTAACT CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAagtgtcgtaactAGATCGAGACCCGACGC chr17:46088429-Variant-C;Patient-55 chr17:46088429-TC Inherited Patient-55 intergenic 9.6e-05 0.00073 0.14 4.94 -2.16 COPZ2 26709 Variant C aagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtat CATTATGCGTAC CGACGCGGTCTCTCTCTaagctcttcagatgtagaaatgcacttctttcttgtacaagaaggtaaaaCgagctgcatagtcaaatgttagaatttggcttaggctttaaaggggtatAGAGGGAGACGGACGTCTCAATAAcattatgcgtacAGATCGAGACCCGACGC chr17:46088429-Variant-C;Patient-55 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative T tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AGCCGGACTGAT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAagccggactgatAGATCGAGACCCGACGC chr17:46976663-Alternative-T;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative T tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AGAATCGCATGA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAagaatcgcatgaAGATCGAGACCCGACGC chr17:46976663-Alternative-T;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative T tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat CTTGATTCTCGA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAActtgattctcgaAGATCGAGACCCGACGC chr17:46976663-Alternative-T;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Reference G tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat CAGCTTCTCGCA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAcagcttctcgcaAGATCGAGACCCGACGC chr17:46976663-Reference-G;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative C tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat CGAAGCAGTGCA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAcgaagcagtgcaAGATCGAGACCCGACGC chr17:46976663-Alternative-C;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative C tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat ACAATACGTCCA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAacaatacgtccaAGATCGAGACCCGACGC chr17:46976663-Alternative-C;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Reference G tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GGACATGGAATT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAggacatggaattAGATCGAGACCCGACGC chr17:46976663-Reference-G;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative T tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GTAATAAGCCGT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgtaataagccgtAGATCGAGACCCGACGC chr17:46976663-Alternative-T;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Variant A tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AGTGTAACCGGC CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAagtgtaaccggcAGATCGAGACCCGACGC chr17:46976663-Variant-A;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative C tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GTCTAGTCGGAG CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgtctagtcggagAGATCGAGACCCGACGC chr17:46976663-Alternative-C;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Variant A tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GGAATGACGGAG CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAggaatgacggagAGATCGAGACCCGACGC chr17:46976663-Variant-A;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative C tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AGGAAGACGATA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAaggaagacgataAGATCGAGACCCGACGC chr17:46976663-Alternative-C;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Variant A tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat ACGCGGCATAAG CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAacgcggcataagAGATCGAGACCCGACGC chr17:46976663-Variant-A;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative C tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GAGCAGTAAGTT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggCggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgagcagtaagttAGATCGAGACCCGACGC chr17:46976663-Alternative-C;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Reference G tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat CGTGACGGAATT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAcgtgacggaattAGATCGAGACCCGACGC chr17:46976663-Reference-G;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Variant A tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GTCTAGGATCTA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgtctaggatctaAGATCGAGACCCGACGC chr17:46976663-Variant-A;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Alternative T tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AATAGTGGCCGC CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggTggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAaatagtggccgcAGATCGAGACCCGACGC chr17:46976663-Alternative-T;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Reference G tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GCGATCAATTGA CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgcgatcaattgaAGATCGAGACCCGACGC chr17:46976663-Reference-G;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Reference G tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat AGTACCGGAGCT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggGggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAagtaccggagctAGATCGAGACCCGACGC chr17:46976663-Reference-G;Patient-86 chr17:46976663-GA DeNovo Patient-86 intergenic 7.4e-05 0.000487 -0.12 1.19 -2.28 ATP5MC1 6514 Variant A tacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacat GTTGAGTCAACT CGACGCGGTCTCTCTCTtacgcctgtaatcccagcactttgggaggctggggcggcgggggcgggggAggggggggggaacatgaggtcacgagttcaagaccagcctggccaacatAGAGGGAGACGGACGTCTCAATAAgttgagtcaactAGATCGAGACCCGACGC chr17:46976663-Variant-A;Patient-86 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative T actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CACGTCCGACTT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAcacgtccgacttAGATCGAGACCCGACGC chr17:46994049-Alternative-T;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative C actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GTTCGTCTATAC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgttcgtctatacAGATCGAGACCCGACGC chr17:46994049-Alternative-C;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative C actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca AGACCAATGCTT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAagaccaatgcttAGATCGAGACCCGACGC chr17:46994049-Alternative-C;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Reference G actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CGGATTACGTGC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAcggattacgtgcAGATCGAGACCCGACGC chr17:46994049-Reference-G;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Variant A actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca ACACCGGCAATT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAacaccggcaattAGATCGAGACCCGACGC chr17:46994049-Variant-A;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative C actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GCAGCACACATC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgcagcacacatcAGATCGAGACCCGACGC chr17:46994049-Alternative-C;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative C actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GGTATGCGATGG CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAggtatgcgatggAGATCGAGACCCGACGC chr17:46994049-Alternative-C;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative C actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GTCTCGCACGTT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaCtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgtctcgcacgttAGATCGAGACCCGACGC chr17:46994049-Alternative-C;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative T actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GGAGTCGAGTCA CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAggagtcgagtcaAGATCGAGACCCGACGC chr17:46994049-Alternative-T;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Variant A actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GTTACGTACGAC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgttacgtacgacAGATCGAGACCCGACGC chr17:46994049-Variant-A;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative T actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CGTAATCGCATA CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAcgtaatcgcataAGATCGAGACCCGACGC chr17:46994049-Alternative-T;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative T actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca AAGACCATGACA CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAaagaccatgacaAGATCGAGACCCGACGC chr17:46994049-Alternative-T;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Variant A actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CTGCTTGTCATA CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAActgcttgtcataAGATCGAGACCCGACGC chr17:46994049-Variant-A;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Reference G actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca ATCGATCTTCGT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAatcgatcttcgtAGATCGAGACCCGACGC chr17:46994049-Reference-G;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Reference G actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GAATTGCACGTT CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgaattgcacgttAGATCGAGACCCGACGC chr17:46994049-Reference-G;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Reference G actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GGCTGCGAGTAA CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAggctgcgagtaaAGATCGAGACCCGACGC chr17:46994049-Reference-G;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Reference G actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CTTGCGAACGTC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaGtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAActtgcgaacgtcAGATCGAGACCCGACGC chr17:46994049-Reference-G;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Variant A actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GATTCGAGTCGC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAgattcgagtcgcAGATCGAGACCCGACGC chr17:46994049-Variant-A;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Alternative T actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca GGTACAAGCGAC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaTtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAggtacaagcgacAGATCGAGACCCGACGC chr17:46994049-Alternative-T;Patient-20 chr17:46994049-GA DeNovo Patient-20 intronic UBE2Z NA 4.95e-05 -0.14 1.08 -2.12 UBE2Z 8317 Variant A actacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagca CGCTAGGCATTC CGACGCGGTCTCTCTCTactacatttgttggtatagggaaaaaaagggaattgacacgtgttttttaAtaatgaaattttttgccgaccactgtggctcacacctgtaatcccagcaAGAGGGAGACGGACGTCTCAATAAcgctaggcattcAGATCGAGACCCGACGC chr17:46994049-Variant-A;Patient-20 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Variant C cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttg AACCACAGGTGG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAaaccacaggtggAGATCGAGACCCGACGC chr17:47119025-Variant-C;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative T cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CGATTGTCCGCT CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAcgattgtccgctAGATCGAGACCCGACGC chr17:47119025-Alternative-T;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative T cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GGTCTTATCCGC CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAggtcttatccgcAGATCGAGACCCGACGC chr17:47119025-Alternative-T;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative A cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GTGTACGCGCAA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAgtgtacgcgcaaAGATCGAGACCCGACGC chr17:47119025-Alternative-A;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Variant C cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GCAGTAGAGCAA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAgcagtagagcaaAGATCGAGACCCGACGC chr17:47119025-Variant-C;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative T cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttg ACTTCTATCGAG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAacttctatcgagAGATCGAGACCCGACGC chr17:47119025-Alternative-T;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative A cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttg AAGTTAGGCGAC CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAaagttaggcgacAGATCGAGACCCGACGC chr17:47119025-Alternative-A;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative A cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GGACATGAAGCG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAggacatgaagcgAGATCGAGACCCGACGC chr17:47119025-Alternative-A;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Variant C cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GCCAACACCGAT CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAgccaacaccgatAGATCGAGACCCGACGC chr17:47119025-Variant-C;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Reference G cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CAACGACGCAAG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAcaacgacgcaagAGATCGAGACCCGACGC chr17:47119025-Reference-G;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Reference G cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttg ATCGGCGTAACG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAatcggcgtaacgAGATCGAGACCCGACGC chr17:47119025-Reference-G;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Variant C cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttg AGGAGTCGCTTC CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAaggagtcgcttcAGATCGAGACCCGACGC chr17:47119025-Variant-C;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative T cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GATATCTGTGCA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAgatatctgtgcaAGATCGAGACCCGACGC chr17:47119025-Alternative-T;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Reference G cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CAACCTAACAGG CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAcaacctaacaggAGATCGAGACCCGACGC chr17:47119025-Reference-G;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative A cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CACAACAACCTA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAcacaacaacctaAGATCGAGACCCGACGC chr17:47119025-Alternative-A;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative T cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CTTGTTCTAGCA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctTtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAActtgttctagcaAGATCGAGACCCGACGC chr17:47119025-Alternative-T;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Alternative A cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttg ACCGTACGTCGA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctAtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAaccgtacgtcgaAGATCGAGACCCGACGC chr17:47119025-Alternative-A;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Variant C cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GGCCAAGTATAA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctCtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAggccaagtataaAGATCGAGACCCGACGC chr17:47119025-Variant-C;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Reference G cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttg GTCGCCACAGAA CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAgtcgccacagaaAGATCGAGACCCGACGC chr17:47119025-Reference-G;Patient-105 chr17:47119025-GC DeNovo Patient-105 intronic IGF2BP1 NA 0.000142194 -0.88 0.01 -7.43 IGF2BP1 44250 Reference G cctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttg CGAGTAACGTTC CGACGCGGTCTCTCTCTcctcttgaagaaaaacagtcgaagtggtaaagagcatttaaaaaatccctGtaaggactggatctgcccattcccactgccatatggggcaggggtgttgAGAGGGAGACGGACGTCTCAATAAcgagtaacgttcAGATCGAGACCCGACGC chr17:47119025-Reference-G;Patient-105 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Reference G aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GCCAAGTATCGG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgccaagtatcggAGATCGAGACCCGACGC chr17:47269880-Reference-G;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Reference G aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CGGTATTCTAAC CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAcggtattctaacAGATCGAGACCCGACGC chr17:47269880-Reference-G;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Reference G aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CAGCGGTGACTT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAcagcggtgacttAGATCGAGACCCGACGC chr17:47269880-Reference-G;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative C aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GAGAGCAACGTC CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgagagcaacgtcAGATCGAGACCCGACGC chr17:47269880-Alternative-C;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative C aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CTCTTGCGTGGT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAActcttgcgtggtAGATCGAGACCCGACGC chr17:47269880-Alternative-C;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Reference G aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CATCTTAATCGG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAcatcttaatcggAGATCGAGACCCGACGC chr17:47269880-Reference-G;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative C aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc ACGCGCGTGATA CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAacgcgcgtgataAGATCGAGACCCGACGC chr17:47269880-Alternative-C;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative C aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GATTCCTGACGG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgattcctgacggAGATCGAGACCCGACGC chr17:47269880-Alternative-C;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Variant A aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc AGACGTCGCATC CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAagacgtcgcatcAGATCGAGACCCGACGC chr17:47269880-Variant-A;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Variant A aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GACAAGAGCAGT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgacaagagcagtAGATCGAGACCCGACGC chr17:47269880-Variant-A;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Variant A aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GGACATAACGCG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAggacataacgcgAGATCGAGACCCGACGC chr17:47269880-Variant-A;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative C aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GATTGTGCATGT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaCaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgattgtgcatgtAGATCGAGACCCGACGC chr17:47269880-Alternative-C;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative T aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GTGTCTCTTAAG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgtgtctcttaagAGATCGAGACCCGACGC chr17:47269880-Alternative-T;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative T aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc GTTACTGCCGTC CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAgttactgccgtcAGATCGAGACCCGACGC chr17:47269880-Alternative-T;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative T aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc AGACGCTTAAGA CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAagacgcttaagaAGATCGAGACCCGACGC chr17:47269880-Alternative-T;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative T aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CGTCACACGAAT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAcgtcacacgaatAGATCGAGACCCGACGC chr17:47269880-Alternative-T;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Reference G aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc ACAACGATTAGG CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaGaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAacaacgattaggAGATCGAGACCCGACGC chr17:47269880-Reference-G;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Alternative T aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CGGAATATGTGA CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaTaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAcggaatatgtgaAGATCGAGACCCGACGC chr17:47269880-Alternative-T;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Variant A aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc CTATGCTCGATT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAActatgctcgattAGATCGAGACCCGACGC chr17:47269880-Variant-A;Patient-79 chr17:47269880-GA DeNovo Patient-79 intergenic 6.4e-05 0.000159744 0.81 11.96 1.28 GNGT2 18055 Variant A aaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatc AACGACTGCGGT CGACGCGGTCTCTCTCTaaaggccgcccagagccctcctagcttgaggagactcgcggccgccttaaAaagccagcaggtcccatggtgtaatggttagcactctggactttgaatcAGAGGGAGACGGACGTCTCAATAAaacgactgcggtAGATCGAGACCCGACGC chr17:47269880-Variant-A;Patient-79 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative A cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CGACATGAGTGG CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcgacatgagtggAGATCGAGACCCGACGC chr17:4729214-Alternative-A;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative A cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CAGCGGCATTGT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcagcggcattgtAGATCGAGACCCGACGC chr17:4729214-Alternative-A;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Variant G cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc ACGTGACGTCAA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAacgtgacgtcaaAGATCGAGACCCGACGC chr17:4729214-Variant-G;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Variant G cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CACGGTGGATGA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcacggtggatgaAGATCGAGACCCGACGC chr17:4729214-Variant-G;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative T cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc AGCGCCTATGCT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAagcgcctatgctAGATCGAGACCCGACGC chr17:4729214-Alternative-T;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative A cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GTCTCTGACAAG CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAgtctctgacaagAGATCGAGACCCGACGC chr17:4729214-Alternative-A;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative A cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GTTGACCGAATC CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAgttgaccgaatcAGATCGAGACCCGACGC chr17:4729214-Alternative-A;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Reference C cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GCAGCGGTGTAA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAgcagcggtgtaaAGATCGAGACCCGACGC chr17:4729214-Reference-C;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative T cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc AGTAAGGCGCAC CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAagtaaggcgcacAGATCGAGACCCGACGC chr17:4729214-Alternative-T;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Variant G cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CGCACGAGATGT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcgcacgagatgtAGATCGAGACCCGACGC chr17:4729214-Variant-G;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative A cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GGAGAAGTGTAA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggAcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAggagaagtgtaaAGATCGAGACCCGACGC chr17:4729214-Alternative-A;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative T cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc ACGTCGAGTTCG CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAacgtcgagttcgAGATCGAGACCCGACGC chr17:4729214-Alternative-T;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Variant G cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc ACCACGATGCTA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAaccacgatgctaAGATCGAGACCCGACGC chr17:4729214-Variant-G;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Reference C cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc AGTTCGATACAC CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAagttcgatacacAGATCGAGACCCGACGC chr17:4729214-Reference-C;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Variant G cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GGTCGGCTTGAT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggGcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAggtcggcttgatAGATCGAGACCCGACGC chr17:4729214-Variant-G;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Reference C cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GTAATAGACCGA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAgtaatagaccgaAGATCGAGACCCGACGC chr17:4729214-Reference-C;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative T cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc ACGAATCATCCA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAacgaatcatccaAGATCGAGACCCGACGC chr17:4729214-Alternative-T;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Reference C cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CAACGCAGCGTT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcaacgcagcgttAGATCGAGACCCGACGC chr17:4729214-Reference-C;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Reference C cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc GGCGAACTTCGT CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggCcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAggcgaacttcgtAGATCGAGACCCGACGC chr17:4729214-Reference-C;Patient-23 chr17:4729214-CG DeNovo Patient-23 intergenic NA 0.000513 -0.08 1.63 0.15 PLD2 18817 Alternative T cctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggc CAGCAAGCATAA CGACGCGGTCTCTCTCTcctcggcctcccaaagtgctgggattacaggcacaagccacagcacctggTcccttttattttcttaaactgagtgtatataaaagctgggcatggtggcAGAGGGAGACGGACGTCTCAATAAcagcaagcataaAGATCGAGACCCGACGC chr17:4729214-Alternative-T;Patient-23 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative C ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GATAGCTGAACA CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgatagctgaacaAGATCGAGACCCGACGC chr17:48236185-Alternative-C;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Reference G ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CGTGTCGCTAAG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAcgtgtcgctaagAGATCGAGACCCGACGC chr17:48236185-Reference-G;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Reference G ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GATAGGCGAATA CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgataggcgaataAGATCGAGACCCGACGC chr17:48236185-Reference-G;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Reference G ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat AACTTCGTGCTT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAaacttcgtgcttAGATCGAGACCCGACGC chr17:48236185-Reference-G;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative C ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CGTTCATCGAAT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAcgttcatcgaatAGATCGAGACCCGACGC chr17:48236185-Alternative-C;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Reference G ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CATAGTAGGTTC CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAcatagtaggttcAGATCGAGACCCGACGC chr17:48236185-Reference-G;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Reference G ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat ATCCGGCTGTGA CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaGtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAatccggctgtgaAGATCGAGACCCGACGC chr17:48236185-Reference-G;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative T ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CTTAGGTTCTGT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAActtaggttctgtAGATCGAGACCCGACGC chr17:48236185-Alternative-T;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative T ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GAGCAACTGTGG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgagcaactgtggAGATCGAGACCCGACGC chr17:48236185-Alternative-T;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative T ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GAGTATACAACG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgagtatacaacgAGATCGAGACCCGACGC chr17:48236185-Alternative-T;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative T ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GTCAGTAAGAAG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgtcagtaagaagAGATCGAGACCCGACGC chr17:48236185-Alternative-T;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Variant A ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GAGATAATGTCG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgagataatgtcgAGATCGAGACCCGACGC chr17:48236185-Variant-A;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Variant A ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CATCGCGTAGCT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAcatcgcgtagctAGATCGAGACCCGACGC chr17:48236185-Variant-A;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Variant A ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat ATTGCGCGATAT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAattgcgcgatatAGATCGAGACCCGACGC chr17:48236185-Variant-A;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative C ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CTAGTTGGTCGC CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAActagttggtcgcAGATCGAGACCCGACGC chr17:48236185-Alternative-C;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Variant A ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GAGAGTAACGTT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgagagtaacgttAGATCGAGACCCGACGC chr17:48236185-Variant-A;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative T ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CTGCTATGACGG CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaTtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAActgctatgacggAGATCGAGACCCGACGC chr17:48236185-Alternative-T;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Variant A ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat GAATGCGAACAT CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaAtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAgaatgcgaacatAGATCGAGACCCGACGC chr17:48236185-Variant-A;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative C ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat CATTGTGCATTC CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAcattgtgcattcAGATCGAGACCCGACGC chr17:48236185-Alternative-C;Patient-62 chr17:48236185-GA DeNovo Patient-62 intergenic 0.000832 0.000487 0.03 3.02 0.15 COL1A1 42807 Alternative C ggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaat ACTCAACCGTAA CGACGCGGTCTCTCTCTggatgctatttggagtggcacaaaaaatgtctgtccttactacttgatgaCtaccttgaaagaaaaaaataggccaggtttggtggctcacacctgtaatAGAGGGAGACGGACGTCTCAATAAactcaaccgtaaAGATCGAGACCCGACGC chr17:48236185-Alternative-C;Patient-62 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Variant T ccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttca ATCACGCCAACA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAatcacgccaacaAGATCGAGACCCGACGC chr17:48244241-Variant-T;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Reference C ccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttca CATTGACTCCGC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcattgactccgcAGATCGAGACCCGACGC chr17:48244241-Reference-C;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Reference C ccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttca GTCCGCTATTGC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAgtccgctattgcAGATCGAGACCCGACGC chr17:48244241-Reference-C;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Variant T ccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttca CGTCACGGTTCT CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcgtcacggttctAGATCGAGACCCGACGC chr17:48244241-Variant-T;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Variant T ccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttca CGGCTGATAGTC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcggctgatagtcAGATCGAGACCCGACGC chr17:48244241-Variant-T;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative G ccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttca CGAGATCCTGGT CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcgagatcctggtAGATCGAGACCCGACGC chr17:48244241-Alternative-G;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative G ccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttca ACATCCAATCGA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAacatccaatcgaAGATCGAGACCCGACGC chr17:48244241-Alternative-G;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative G ccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttca AGTCTACGCGAC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAagtctacgcgacAGATCGAGACCCGACGC chr17:48244241-Alternative-G;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative G ccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttca CTGTGCGAACAG CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAActgtgcgaacagAGATCGAGACCCGACGC chr17:48244241-Alternative-G;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Reference C ccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttca GTCTCGTAGTTA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAgtctcgtagttaAGATCGAGACCCGACGC chr17:48244241-Reference-C;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Reference C ccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttca GGATGTAACAGT CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAggatgtaacagtAGATCGAGACCCGACGC chr17:48244241-Reference-C;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Reference C ccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttca CGAAGTGACATA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaCatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcgaagtgacataAGATCGAGACCCGACGC chr17:48244241-Reference-C;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative A ccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttca GAATTGTCGGAA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAgaattgtcggaaAGATCGAGACCCGACGC chr17:48244241-Alternative-A;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative G ccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttca AGTGACGTCGTC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaGatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAagtgacgtcgtcAGATCGAGACCCGACGC chr17:48244241-Alternative-G;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative A ccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttca AAGACGACATCA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAaagacgacatcaAGATCGAGACCCGACGC chr17:48244241-Alternative-A;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative A ccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttca GGCGGATTCGTT CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAggcggattcgttAGATCGAGACCCGACGC chr17:48244241-Alternative-A;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative A ccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttca GGCGATCATGCA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAggcgatcatgcaAGATCGAGACCCGACGC chr17:48244241-Alternative-A;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Variant T ccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttca CAGACGTCAGGT CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAcagacgtcaggtAGATCGAGACCCGACGC chr17:48244241-Variant-T;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Alternative A ccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttca ACGTGAAGATAC CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaAatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAacgtgaagatacAGATCGAGACCCGACGC chr17:48244241-Alternative-A;Patient-13 chr17:48244241-CT DeNovo Patient-13 intronic SGCA NA 4.95e-05 -0.04 2.08 0 SGCA 874 Variant T ccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttca ATTCGTGGCGCA CGACGCGGTCTCTCTCTccccacacaccgtcacacacaccccccacacacacccccacatacccccaTatacccccacacaccccccgcaaacacacaccccccacacacaccttcaAGAGGGAGACGGACGTCTCAATAAattcgtggcgcaAGATCGAGACCCGACGC chr17:48244241-Variant-T;Patient-13 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative T caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca ACGGTAGTTGAT CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAacggtagttgatAGATCGAGACCCGACGC chr17:48427885-Alternative-T;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative T caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca AAGGAACGTCGG CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAaaggaacgtcggAGATCGAGACCCGACGC chr17:48427885-Alternative-T;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative T caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CAAGACGTACGC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcaagacgtacgcAGATCGAGACCCGACGC chr17:48427885-Alternative-T;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative T caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CAACTATGACGC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcaactatgacgcAGATCGAGACCCGACGC chr17:48427885-Alternative-T;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative T caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GCGGATAAGCGA CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcTccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgcggataagcgaAGATCGAGACCCGACGC chr17:48427885-Alternative-T;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative C caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CGAGTGTGACGA CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcgagtgtgacgaAGATCGAGACCCGACGC chr17:48427885-Alternative-C;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Reference A caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CATATTCAACGC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcatattcaacgcAGATCGAGACCCGACGC chr17:48427885-Reference-A;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Reference A caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GCGCAATCCTAC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgcgcaatcctacAGATCGAGACCCGACGC chr17:48427885-Reference-A;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Variant G caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca ATATGAGCCGGC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAatatgagccggcAGATCGAGACCCGACGC chr17:48427885-Variant-G;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Reference A caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CATCGTCGTCAC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcatcgtcgtcacAGATCGAGACCCGACGC chr17:48427885-Reference-A;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Variant G caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GTAGCTCAACCG CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgtagctcaaccgAGATCGAGACCCGACGC chr17:48427885-Variant-G;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Reference A caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CAAGACCTATGG CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcaagacctatggAGATCGAGACCCGACGC chr17:48427885-Reference-A;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative C caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GTTCGATCTACG CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgttcgatctacgAGATCGAGACCCGACGC chr17:48427885-Alternative-C;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Variant G caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GATCGCAATGGT CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgatcgcaatggtAGATCGAGACCCGACGC chr17:48427885-Variant-G;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative C caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GGCTTCGAGCAT CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAggcttcgagcatAGATCGAGACCCGACGC chr17:48427885-Alternative-C;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative C caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca AGGAGTATAGCT CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAaggagtatagctAGATCGAGACCCGACGC chr17:48427885-Alternative-C;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Variant G caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca AATCTATACGGC CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAaatctatacggcAGATCGAGACCCGACGC chr17:48427885-Variant-G;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Variant G caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GACCTGGACGAA CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcGccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAgacctggacgaaAGATCGAGACCCGACGC chr17:48427885-Variant-G;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Alternative C caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca CAAGTTCCGCTT CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcCccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAcaagttccgcttAGATCGAGACCCGACGC chr17:48427885-Alternative-C;Patient-72 chr17:48427885-AG DeNovo Patient-72 intronic XYLT2 0.000105 0.00124 0.27 6.87 0.43 XYLT2 4491 Reference A caagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaaca GGCGAATATCGG CGACGCGGTCTCTCTCTcaagaatcgcttgaacccaagaggcagaggttggagtgagccgagattgcAccactgcactccagcctgggcaatagagtgagactgcctcagaaaaacaAGAGGGAGACGGACGTCTCAATAAggcgaatatcggAGATCGAGACCCGACGC chr17:48427885-Reference-A;Patient-72 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative T ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaag CAGGCGTATCAG CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcaggcgtatcagAGATCGAGACCCGACGC chr17:48623711-Alternative-T;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative T ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaag GAGATACGGTAT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgagatacggtatAGATCGAGACCCGACGC chr17:48623711-Alternative-T;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Variant G ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaag GTTGAGCTTGCG CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgttgagcttgcgAGATCGAGACCCGACGC chr17:48623711-Variant-G;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Variant G ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaag GAGTAACGTACA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgagtaacgtacaAGATCGAGACCCGACGC chr17:48623711-Variant-G;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Reference A ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaag CACGAATACCAT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcacgaataccatAGATCGAGACCCGACGC chr17:48623711-Reference-A;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative T ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaag CGAGTCCGGTAA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcgagtccggtaaAGATCGAGACCCGACGC chr17:48623711-Alternative-T;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Variant G ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaag CATAGCGGATAT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcatagcggatatAGATCGAGACCCGACGC chr17:48623711-Variant-G;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative T ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaag CGGTCCTACAAC CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcggtcctacaacAGATCGAGACCCGACGC chr17:48623711-Alternative-T;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative C ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaag CTGCGTATAACA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAActgcgtataacaAGATCGAGACCCGACGC chr17:48623711-Alternative-C;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative C ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaag GACTAAGACGAT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgactaagacgatAGATCGAGACCCGACGC chr17:48623711-Alternative-C;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Variant G ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaag ACACTGAGCACG CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAacactgagcacgAGATCGAGACCCGACGC chr17:48623711-Variant-G;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Reference A ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaag ACACCACGATCA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAacaccacgatcaAGATCGAGACCCGACGC chr17:48623711-Reference-A;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative C ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaag CACTTCCATCGC CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcacttccatcgcAGATCGAGACCCGACGC chr17:48623711-Alternative-C;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative C ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaag GCGCATTAGTAA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgcgcattagtaaAGATCGAGACCCGACGC chr17:48623711-Alternative-C;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Reference A ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaag CTCTAGCCTTCG CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAActctagccttcgAGATCGAGACCCGACGC chr17:48623711-Reference-A;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Variant G ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaag CTGGTTATTAGG CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaGactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAActggttattaggAGATCGAGACCCGACGC chr17:48623711-Variant-G;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Reference A ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaag CACACGCTGTGA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcacacgctgtgaAGATCGAGACCCGACGC chr17:48623711-Reference-A;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative T ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaag GATAACAGCTGA CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaTactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAgataacagctgaAGATCGAGACCCGACGC chr17:48623711-Alternative-T;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Alternative C ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaag GGAGATCCGGTT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaCactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAggagatccggttAGATCGAGACCCGACGC chr17:48623711-Alternative-C;Patient-103 chr17:48623711-AG DeNovo Patient-103 intergenic NA 0.000243428 0.09 4.14 -1.87 EPN3 13662 Reference A ctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaag CAGTCGTCCGTT CGACGCGGTCTCTCTCTctgcagttgctcagcccggactcactgacaagccacgggacctttgcacaAactgtacctctgcctccttccccagcactccccctgagcaccctccaagAGAGGGAGACGGACGTCTCAATAAcagtcgtccgttAGATCGAGACCCGACGC chr17:48623711-Reference-A;Patient-103 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Variant C ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GTGTTGCGCTGT CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgtgttgcgctgtAGATCGAGACCCGACGC chr17:49305949-Variant-C;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Variant C ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg ATACGGAGAACG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAatacggagaacgAGATCGAGACCCGACGC chr17:49305949-Variant-C;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative G ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg ACTCCTCTTGCG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAactcctcttgcgAGATCGAGACCCGACGC chr17:49305949-Alternative-G;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative G ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg CGTAATATCGCA CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAcgtaatatcgcaAGATCGAGACCCGACGC chr17:49305949-Alternative-G;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative G ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GAATCGAGATGG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgaatcgagatggAGATCGAGACCCGACGC chr17:49305949-Alternative-G;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative G ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg CGTACCGTTATA CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAcgtaccgttataAGATCGAGACCCGACGC chr17:49305949-Alternative-G;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Variant C ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg AGCTCAACGGAC CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAagctcaacggacAGATCGAGACCCGACGC chr17:49305949-Variant-C;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Variant C ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GGAGATTCATTC CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAggagattcattcAGATCGAGACCCGACGC chr17:49305949-Variant-C;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative G ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg ATCGATCCGTAA CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaGaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAatcgatccgtaaAGATCGAGACCCGACGC chr17:49305949-Alternative-G;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Variant C ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg ATATACACGGCG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaCaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAatatacacggcgAGATCGAGACCCGACGC chr17:49305949-Variant-C;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Reference T ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg ACGTTAGTTCGA CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAacgttagttcgaAGATCGAGACCCGACGC chr17:49305949-Reference-T;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Reference T ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg CAATATCGCTGT CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAcaatatcgctgtAGATCGAGACCCGACGC chr17:49305949-Reference-T;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Reference T ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GCGTCAAGTACG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgcgtcaagtacgAGATCGAGACCCGACGC chr17:49305949-Reference-T;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Reference T ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GACCGTAACCGT CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgaccgtaaccgtAGATCGAGACCCGACGC chr17:49305949-Reference-T;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Reference T ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg AATAAGGTGTCG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaTaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAaataaggtgtcgAGATCGAGACCCGACGC chr17:49305949-Reference-T;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative A ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg AGCTGCCGTCAT CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAagctgccgtcatAGATCGAGACCCGACGC chr17:49305949-Alternative-A;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative A ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GTTATAGCCTGA CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgttatagcctgaAGATCGAGACCCGACGC chr17:49305949-Alternative-A;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative A ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg CAGTACGTCTGG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAcagtacgtctggAGATCGAGACCCGACGC chr17:49305949-Alternative-A;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative A ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GTCAATTCGGAC CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgtcaattcggacAGATCGAGACCCGACGC chr17:49305949-Alternative-A;Patient-21 chr17:49305949-TC DeNovo Patient-21 intronic MBTD1 NA 4.95e-05 0.47 9.08 1.54 MBTD1 31477 Alternative A ttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcg GTTCGTGTGACG CGACGCGGTCTCTCTCTttccaaaataaattgcataactacaggctttgtgagaagtgaaaagaaaaAaggagacaataaaaaggacaaaaaaaaaaaaaaattgggaggctgggcgAGAGGGAGACGGACGTCTCAATAAgttcgtgtgacgAGATCGAGACCCGACGC chr17:49305949-Alternative-A;Patient-21 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative G aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ACACCTACGTCC CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAacacctacgtccAGATCGAGACCCGACGC chr17:51841865-Alternative-G;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative G aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ATAGGTACGAGA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAataggtacgagaAGATCGAGACCCGACGC chr17:51841865-Alternative-G;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative G aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GTTAGAGCGTTA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAgttagagcgttaAGATCGAGACCCGACGC chr17:51841865-Alternative-G;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative G aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca AGAATTACGGCA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAagaattacggcaAGATCGAGACCCGACGC chr17:51841865-Alternative-G;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Reference T aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GCGTCGCAGTTA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAgcgtcgcagttaAGATCGAGACCCGACGC chr17:51841865-Reference-T;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative G aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca AGCGTGGTTGCT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcGatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAagcgtggttgctAGATCGAGACCCGACGC chr17:51841865-Alternative-G;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Variant C aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca CGAATAAGGCTA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAcgaataaggctaAGATCGAGACCCGACGC chr17:51841865-Variant-C;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Reference T aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GAGCTGTCAATC CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAgagctgtcaatcAGATCGAGACCCGACGC chr17:51841865-Reference-T;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Variant C aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca AGAATGGTACAC CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAagaatggtacacAGATCGAGACCCGACGC chr17:51841865-Variant-C;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Variant C aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ACCGAACTATCA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAaccgaactatcaAGATCGAGACCCGACGC chr17:51841865-Variant-C;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Reference T aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GGAACTCGTGCT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAggaactcgtgctAGATCGAGACCCGACGC chr17:51841865-Reference-T;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Reference T aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ATAACGGTGAGT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAataacggtgagtAGATCGAGACCCGACGC chr17:51841865-Reference-T;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Variant C aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca CAACACGACAGT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAcaacacgacagtAGATCGAGACCCGACGC chr17:51841865-Variant-C;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Reference T aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GGACATACGAGA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcTatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAggacatacgagaAGATCGAGACCCGACGC chr17:51841865-Reference-T;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative A aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ACCGCATGATTA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAaccgcatgattaAGATCGAGACCCGACGC chr17:51841865-Alternative-A;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Variant C aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca CAACAGTACACG CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcCatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAcaacagtacacgAGATCGAGACCCGACGC chr17:51841865-Variant-C;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative A aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca GGTCTTAGCGGT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAggtcttagcggtAGATCGAGACCCGACGC chr17:51841865-Alternative-A;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative A aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca ACAGCTCCGTTA CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAacagctccgttaAGATCGAGACCCGACGC chr17:51841865-Alternative-A;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative A aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca CGACTCTAACGC CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAcgactctaacgcAGATCGAGACCCGACGC chr17:51841865-Alternative-A;Patient-91 chr17:51841865-TC Inherited Patient-91 intergenic 0.000414 0.000487 0.14 4.87 0.97 KIF2B 58373 Alternative A aatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatca AGTAGCGGTCGT CGACGCGGTCTCTCTCTaatcataactcttgtacactgctggtagaaatgcaaaatgatgactctgcAatggaaagcaatataaggattcctcaaaaaattaaaaataaaactatcaAGAGGGAGACGGACGTCTCAATAAagtagcggtcgtAGATCGAGACCCGACGC chr17:51841865-Alternative-A;Patient-91 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative T gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GTCATCTTCTGA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgtcatcttctgaAGATCGAGACCCGACGC chr17:52955413-Alternative-T;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative T gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GGTTACACCATA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAggttacaccataAGATCGAGACCCGACGC chr17:52955413-Alternative-T;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Reference G gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac CTTAGCGATCTT CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAActtagcgatcttAGATCGAGACCCGACGC chr17:52955413-Reference-G;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative T gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac CGAGAGCGAGTT CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAcgagagcgagttAGATCGAGACCCGACGC chr17:52955413-Alternative-T;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative T gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac AACCAATGCTTC CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAaaccaatgcttcAGATCGAGACCCGACGC chr17:52955413-Alternative-T;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Reference G gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GCGTAACAACGC CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgcgtaacaacgcAGATCGAGACCCGACGC chr17:52955413-Reference-G;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative T gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac ACTACGATGCGG CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtTacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAactacgatgcggAGATCGAGACCCGACGC chr17:52955413-Alternative-T;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Reference G gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GCGAGCTCAGTT CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgcgagctcagttAGATCGAGACCCGACGC chr17:52955413-Reference-G;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Reference G gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac ACAGATAGGCGA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAacagataggcgaAGATCGAGACCCGACGC chr17:52955413-Reference-G;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Reference G gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac AATCTTGGCGAT CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtGacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAaatcttggcgatAGATCGAGACCCGACGC chr17:52955413-Reference-G;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative C gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac ACCAACGGCATA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAaccaacggcataAGATCGAGACCCGACGC chr17:52955413-Alternative-C;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Variant A gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac AACTCCGCGGAA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAaactccgcggaaAGATCGAGACCCGACGC chr17:52955413-Variant-A;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative C gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac CATAATCGAACC CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAcataatcgaaccAGATCGAGACCCGACGC chr17:52955413-Alternative-C;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Variant A gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac CGCTAGCTCACA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAcgctagctcacaAGATCGAGACCCGACGC chr17:52955413-Variant-A;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Variant A gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GTAGCGATACGG CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgtagcgatacggAGATCGAGACCCGACGC chr17:52955413-Variant-A;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Variant A gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac CTGTCGGAGCTA CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAActgtcggagctaAGATCGAGACCCGACGC chr17:52955413-Variant-A;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative C gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GGTTATTCAACG CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAggttattcaacgAGATCGAGACCCGACGC chr17:52955413-Alternative-C;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative C gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac ATCAACCTTCGC CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAatcaaccttcgcAGATCGAGACCCGACGC chr17:52955413-Alternative-C;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Variant A gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GTGACTCTAAGT CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtAacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgtgactctaagtAGATCGAGACCCGACGC chr17:52955413-Variant-A;Patient-93 chr17:52955413-GA Inherited Patient-93 intergenic 0.000255 0.000243428 -0.09 1.48 0.23 STXBP4 90712 Alternative C gttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccac GACTGCGACATC CGACGCGGTCTCTCTCTgttttcctgcataagctctctctttgtctgccaccatccacataaggtgtCacttgctcctccttgccttccaccatgattgtgaggcttttcccaccacAGAGGGAGACGGACGTCTCAATAAgactgcgacatcAGATCGAGACCCGACGC chr17:52955413-Alternative-C;Patient-93 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Reference C caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggact GTTATGTACGCG CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAgttatgtacgcgAGATCGAGACCCGACGC chr17:53365104-Reference-C;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Reference C caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggact AATGGTAGGTGG CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAaatggtaggtggAGATCGAGACCCGACGC chr17:53365104-Reference-C;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Reference C caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggact AGGTTATAACGC CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAaggttataacgcAGATCGAGACCCGACGC chr17:53365104-Reference-C;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Reference C caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggact CGCGATTAGCAT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAcgcgattagcatAGATCGAGACCCGACGC chr17:53365104-Reference-C;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Reference C caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggact GCCGATACGTAT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatCttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAgccgatacgtatAGATCGAGACCCGACGC chr17:53365104-Reference-C;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative G caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggact ACGAGAGATAAG CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAacgagagataagAGATCGAGACCCGACGC chr17:53365104-Alternative-G;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Variant T caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggact ACCAAGACGATA CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAaccaagacgataAGATCGAGACCCGACGC chr17:53365104-Variant-T;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative A caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggact AGATGCGCCACT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAagatgcgccactAGATCGAGACCCGACGC chr17:53365104-Alternative-A;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative G caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggact GGCGAAGGTCAA CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAggcgaaggtcaaAGATCGAGACCCGACGC chr17:53365104-Alternative-G;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative G caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggact CGACACTTCGTC CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAcgacacttcgtcAGATCGAGACCCGACGC chr17:53365104-Alternative-G;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Variant T caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggact CATATGGTTGAC CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAcatatggttgacAGATCGAGACCCGACGC chr17:53365104-Variant-T;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative G caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggact AAGACGGCATCG CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAaagacggcatcgAGATCGAGACCCGACGC chr17:53365104-Alternative-G;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative A caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggact ATCTATCGCAGT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAatctatcgcagtAGATCGAGACCCGACGC chr17:53365104-Alternative-A;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative G caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggact CTCTCTGAAGTT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatGttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAActctctgaagttAGATCGAGACCCGACGC chr17:53365104-Alternative-G;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative A caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggact ACGGCATTCGGT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAacggcattcggtAGATCGAGACCCGACGC chr17:53365104-Alternative-A;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative A caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggact AAGGTAACGCAA CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAaaggtaacgcaaAGATCGAGACCCGACGC chr17:53365104-Alternative-A;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Variant T caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggact CAATGCGAACGG CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAcaatgcgaacggAGATCGAGACCCGACGC chr17:53365104-Variant-T;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Variant T caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggact CGTGAACTCACA CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAcgtgaactcacaAGATCGAGACCCGACGC chr17:53365104-Variant-T;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Variant T caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggact GTAGAGTAACGT CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatTttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAgtagagtaacgtAGATCGAGACCCGACGC chr17:53365104-Variant-T;Patient-29 chr17:53365104-CT DeNovo Patient-29 intronic HLF NA 4.95e-05 0.06 3.68 -2.08 HLF 22782 Alternative A caagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggact GTCCGGTTGACA CGACGCGGTCTCTCTCTcaagattttctcattttgcataaaacaggtgaaggtttgttgaagtccatAttccaaactcccaaagtactctggataccttggtaggtccttgtggactAGAGGGAGACGGACGTCTCAATAAgtccggttgacaAGATCGAGACCCGACGC chr17:53365104-Alternative-A;Patient-29 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative G ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GTTACTCTGAGT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAgttactctgagtAGATCGAGACCCGACGC chr17:53593492-Alternative-G;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative G ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc ACGAGCGAGTTA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAacgagcgagttaAGATCGAGACCCGACGC chr17:53593492-Alternative-G;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Reference T ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc ACTGTTCCGATA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAactgttccgataAGATCGAGACCCGACGC chr17:53593492-Reference-T;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Reference T ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GGAGACACTTCT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAggagacacttctAGATCGAGACCCGACGC chr17:53593492-Reference-T;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Reference T ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AATGCGGTGACG CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAaatgcggtgacgAGATCGAGACCCGACGC chr17:53593492-Reference-T;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative A ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GATGTCTCAACA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAgatgtctcaacaAGATCGAGACCCGACGC chr17:53593492-Alternative-A;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative G ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc CGTGTTACGGCA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAcgtgttacggcaAGATCGAGACCCGACGC chr17:53593492-Alternative-G;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Variant C ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc ATCATAACGCGT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAatcataacgcgtAGATCGAGACCCGACGC chr17:53593492-Variant-C;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Reference T ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc CGAACGACGTGA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAcgaacgacgtgaAGATCGAGACCCGACGC chr17:53593492-Reference-T;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative A ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc CTCTTGACGCGA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAActcttgacgcgaAGATCGAGACCCGACGC chr17:53593492-Alternative-A;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Reference T ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc CGACTATGTTCT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaTatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAcgactatgttctAGATCGAGACCCGACGC chr17:53593492-Reference-T;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative A ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GTACCTGCTAGG CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAgtacctgctaggAGATCGAGACCCGACGC chr17:53593492-Alternative-A;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Variant C ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc ACGAATGGTCAA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAacgaatggtcaaAGATCGAGACCCGACGC chr17:53593492-Variant-C;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative A ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AGAGTCCACGCT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAagagtccacgctAGATCGAGACCCGACGC chr17:53593492-Alternative-A;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Variant C ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GTCGGAGTTCGT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAgtcggagttcgtAGATCGAGACCCGACGC chr17:53593492-Variant-C;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Variant C ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AGCAATCGATGT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAagcaatcgatgtAGATCGAGACCCGACGC chr17:53593492-Variant-C;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative A ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AAGTGCGCGGTT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaAatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAaagtgcgcggttAGATCGAGACCCGACGC chr17:53593492-Alternative-A;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Variant C ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AACAACAGGTAC CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaCatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAaacaacaggtacAGATCGAGACCCGACGC chr17:53593492-Variant-C;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative G ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc GATAGTACGAGT CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAgatagtacgagtAGATCGAGACCCGACGC chr17:53593492-Alternative-G;Patient-25 chr17:53593492-TC DeNovo Patient-25 intergenic NA 0.000243 1.27 14.78 2.31 MMD 94150 Alternative G ccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaacc AGGAATAAGCGA CGACGCGGTCTCTCTCTccttcagtttaaaatagcacttggctggaagcccctgatgtagccttttaGatcttcccagtaaaattcctcagaagacacagaaaaaaatataaaaaccAGAGGGAGACGGACGTCTCAATAAaggaataagcgaAGATCGAGACCCGACGC chr17:53593492-Alternative-G;Patient-25 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative C gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CGGAATTACGTT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcggaattacgttAGATCGAGACCCGACGC chr17:5524558-Alternative-C;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Reference A gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc GTTCGTCGTCCA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAgttcgtcgtccaAGATCGAGACCCGACGC chr17:5524558-Reference-A;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative C gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CACGCGGTGTTA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcacgcggtgttaAGATCGAGACCCGACGC chr17:5524558-Alternative-C;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Reference A gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CGATACGTAAGA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcgatacgtaagaAGATCGAGACCCGACGC chr17:5524558-Reference-A;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative C gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc ATTGTCGTTCGT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAattgtcgttcgtAGATCGAGACCCGACGC chr17:5524558-Alternative-C;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative C gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CGGCATAAGTAA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcggcataagtaaAGATCGAGACCCGACGC chr17:5524558-Alternative-C;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Reference A gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc AAGCAAGCAACG CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAaagcaagcaacgAGATCGAGACCCGACGC chr17:5524558-Reference-A;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Variant G gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc AGATACACGAAC CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAagatacacgaacAGATCGAGACCCGACGC chr17:5524558-Variant-G;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative C gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc GAGCATCACGCT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcCtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAgagcatcacgctAGATCGAGACCCGACGC chr17:5524558-Alternative-C;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Variant G gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc GGAGAATCGTGA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAggagaatcgtgaAGATCGAGACCCGACGC chr17:5524558-Variant-G;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Variant G gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc AGTCGACTTCGG CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAagtcgacttcggAGATCGAGACCCGACGC chr17:5524558-Variant-G;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Variant G gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc GTTGAGAGTAGT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAgttgagagtagtAGATCGAGACCCGACGC chr17:5524558-Variant-G;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative T gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CAGATCGGATAA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcagatcggataaAGATCGAGACCCGACGC chr17:5524558-Alternative-T;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative T gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc AACTCTCTGCCA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAaactctctgccaAGATCGAGACCCGACGC chr17:5524558-Alternative-T;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative T gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc ACTAGTGGTAGA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAactagtggtagaAGATCGAGACCCGACGC chr17:5524558-Alternative-T;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative T gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc ACAAGGTGACTA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAacaaggtgactaAGATCGAGACCCGACGC chr17:5524558-Alternative-T;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Variant G gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc GTCCGGTGATCA CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcGtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAgtccggtgatcaAGATCGAGACCCGACGC chr17:5524558-Variant-G;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Alternative T gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc CGCGAGTACGTT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcTtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAcgcgagtacgttAGATCGAGACCCGACGC chr17:5524558-Alternative-T;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Reference A gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc ACGACTCGTAAT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAacgactcgtaatAGATCGAGACCCGACGC chr17:5524558-Reference-A;Patient-55 chr17:5524558-AG Inherited Patient-55 intergenic 0.000191 0.000513 -0.2 0.71 -3.1 NLRP1 36725 Reference A gggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagcc AGCTCAATCGAT CGACGCGGTCTCTCTCTgggctccctcgaccctggagcttcccctggcatctccctgaccacatggcAtagtcctcctgtgtttatcatctgtctcatccactgattgcgagcagccAGAGGGAGACGGACGTCTCAATAAagctcaatcgatAGATCGAGACCCGACGC chr17:5524558-Reference-A;Patient-55 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Variant G aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GTAGTAGAACGC CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgtagtagaacgcAGATCGAGACCCGACGC chr17:56287258-Variant-G;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Variant G aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GTACAGTTAGCT CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgtacagttagctAGATCGAGACCCGACGC chr17:56287258-Variant-G;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Variant G aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GCAGTACCGATA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgcagtaccgataAGATCGAGACCCGACGC chr17:56287258-Variant-G;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Variant G aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc AGTAACGGCGCA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAagtaacggcgcaAGATCGAGACCCGACGC chr17:56287258-Variant-G;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Variant G aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc AGGTAGCGAGCT CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacGagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAaggtagcgagctAGATCGAGACCCGACGC chr17:56287258-Variant-G;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative C aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CGGATGTGGTAC CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcggatgtggtacAGATCGAGACCCGACGC chr17:56287258-Alternative-C;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Reference A aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GTCTCGGAACAC CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgtctcggaacacAGATCGAGACCCGACGC chr17:56287258-Reference-A;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative C aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc AACTTCCTGCCG CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAaacttcctgccgAGATCGAGACCCGACGC chr17:56287258-Alternative-C;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative T aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GATCAGGACGCA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgatcaggacgcaAGATCGAGACCCGACGC chr17:56287258-Alternative-T;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative T aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CTATAGCAAGTC CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAActatagcaagtcAGATCGAGACCCGACGC chr17:56287258-Alternative-T;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative C aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GATGTGCCGGAT CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgatgtgccggatAGATCGAGACCCGACGC chr17:56287258-Alternative-C;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Reference A aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CAGTCGGATAAG CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcagtcggataagAGATCGAGACCCGACGC chr17:56287258-Reference-A;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative T aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc AACGTCGTCGAC CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAaacgtcgtcgacAGATCGAGACCCGACGC chr17:56287258-Alternative-T;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative C aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CGGAGCAGCATA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcggagcagcataAGATCGAGACCCGACGC chr17:56287258-Alternative-C;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative T aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CGTGCAGCCTAA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcgtgcagcctaaAGATCGAGACCCGACGC chr17:56287258-Alternative-T;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Reference A aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CGCTTCCTCGAA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcgcttcctcgaaAGATCGAGACCCGACGC chr17:56287258-Reference-A;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative T aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc ACATCAGTTGGT CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacTagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAacatcagttggtAGATCGAGACCCGACGC chr17:56287258-Alternative-T;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Reference A aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc ATAGGCGCCACA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAataggcgccacaAGATCGAGACCCGACGC chr17:56287258-Reference-A;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Reference A aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc CGCCTTAGATAA CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacAagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAcgccttagataaAGATCGAGACCCGACGC chr17:56287258-Reference-A;Patient-25 chr17:56287258-AG DeNovo Patient-25 intronic MKS1 NA 4.19e-05 0.54 9.78 2.41 MKS1 9707 Alternative C aaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttc GCGTATCGAAGG CGACGCGGTCTCTCTCTaaggcaggaagcagggggatacatcagaagttgaatgcactggcctagacCagagatggtggtggcttggtgtagggtgctggagagaacaaataggttcAGAGGGAGACGGACGTCTCAATAAgcgtatcgaaggAGATCGAGACCCGACGC chr17:56287258-Alternative-C;Patient-25 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative G caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagata AAGGCTGATGTT CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAaaggctgatgttAGATCGAGACCCGACGC chr17:56446110-Alternative-G;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative G caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagata GACCTAACGCGA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgacctaacgcgaAGATCGAGACCCGACGC chr17:56446110-Alternative-G;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative G caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagata GTGCGAACATCG CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgtgcgaacatcgAGATCGAGACCCGACGC chr17:56446110-Alternative-G;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative G caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagata GCGTACACGTTC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgcgtacacgttcAGATCGAGACCCGACGC chr17:56446110-Alternative-G;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative G caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagata CTATCATGCGGC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttGtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAActatcatgcggcAGATCGAGACCCGACGC chr17:56446110-Alternative-G;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Reference C caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagata GGATGAACGCCA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAggatgaacgccaAGATCGAGACCCGACGC chr17:56446110-Reference-C;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Reference C caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagata GACGGAACACAC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgacggaacacacAGATCGAGACCCGACGC chr17:56446110-Reference-C;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Variant T caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagata ATAGGCGGTGGT CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAataggcggtggtAGATCGAGACCCGACGC chr17:56446110-Variant-T;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Variant T caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagata GGTAATGATTGC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAggtaatgattgcAGATCGAGACCCGACGC chr17:56446110-Variant-T;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Reference C caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagata CGTAGCATTGCG CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAcgtagcattgcgAGATCGAGACCCGACGC chr17:56446110-Reference-C;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Variant T caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagata GGAGTAGATCTA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAggagtagatctaAGATCGAGACCCGACGC chr17:56446110-Variant-T;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Variant T caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagata AGTTGGACACTT CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAagttggacacttAGATCGAGACCCGACGC chr17:56446110-Variant-T;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Variant T caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagata GTGGCTCGCATA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttTtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgtggctcgcataAGATCGAGACCCGACGC chr17:56446110-Variant-T;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative A caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagata ACTGTCCTAGTT CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAactgtcctagttAGATCGAGACCCGACGC chr17:56446110-Alternative-A;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative A caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagata CACACGGCGTAA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAcacacggcgtaaAGATCGAGACCCGACGC chr17:56446110-Alternative-A;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Reference C caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagata GTCGCTTGGTTC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAgtcgcttggttcAGATCGAGACCCGACGC chr17:56446110-Reference-C;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative A caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagata GGTACCTTGGAC CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAggtaccttggacAGATCGAGACCCGACGC chr17:56446110-Alternative-A;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Reference C caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagata ATAGTCCGGTTA CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttCtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAatagtccggttaAGATCGAGACCCGACGC chr17:56446110-Reference-C;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative A caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagata CTATCGTCAACT CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAActatcgtcaactAGATCGAGACCCGACGC chr17:56446110-Alternative-A;Patient-55 chr17:56446110-CT DeNovo Patient-55 intronic RNF43 NA 4.95e-05 -0.02 2.27 0.55 SUPT4H1 16510 Alternative A caagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagata AGTAGTGTACAG CGACGCGGTCTCTCTCTcaagactctgtctcaaaaaaaaaaaaaaagaaaaaagaaaaacagatgttAtaccaaactaactatatttattacttacaatttattttctcatgagataAGAGGGAGACGGACGTCTCAATAAagtagtgtacagAGATCGAGACCCGACGC chr17:56446110-Alternative-A;Patient-55 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Reference T ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CAACAACATCCA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAcaacaacatccaAGATCGAGACCCGACGC chr17:57923660-Reference-T;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Variant G ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ACTGGTCACGAG CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAactggtcacgagAGATCGAGACCCGACGC chr17:57923660-Variant-G;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Variant G ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CAGCTGACCGAT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAcagctgaccgatAGATCGAGACCCGACGC chr17:57923660-Variant-G;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Variant G ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ACATCATTGCGA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAacatcattgcgaAGATCGAGACCCGACGC chr17:57923660-Variant-G;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Variant G ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactga GTCGACTAACGC CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAgtcgactaacgcAGATCGAGACCCGACGC chr17:57923660-Variant-G;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Reference T ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactga AGCGCACACGAT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAagcgcacacgatAGATCGAGACCCGACGC chr17:57923660-Reference-T;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Reference T ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactga AAGGTGGTAGAA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAaaggtggtagaaAGATCGAGACCCGACGC chr17:57923660-Reference-T;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative A ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactga GGTTGAACTCTA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAggttgaactctaAGATCGAGACCCGACGC chr17:57923660-Alternative-A;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Variant G ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ATCGAGATTACG CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattGaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAatcgagattacgAGATCGAGACCCGACGC chr17:57923660-Variant-G;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative A ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ACGGTGAACAAT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAacggtgaacaatAGATCGAGACCCGACGC chr17:57923660-Alternative-A;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Reference T ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CTATGGTATCGA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAActatggtatcgaAGATCGAGACCCGACGC chr17:57923660-Reference-T;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative A ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CGATACGTAGAA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAcgatacgtagaaAGATCGAGACCCGACGC chr17:57923660-Alternative-A;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Reference T ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CTCTTACCTCAT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattTaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAActcttacctcatAGATCGAGACCCGACGC chr17:57923660-Reference-T;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative A ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactga GTTCGTTCATCA CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAgttcgttcatcaAGATCGAGACCCGACGC chr17:57923660-Alternative-A;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative C ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactga GGTAGGTGCGAT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAggtaggtgcgatAGATCGAGACCCGACGC chr17:57923660-Alternative-C;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative A ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactga CGTAGCTAGCGT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattAaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAcgtagctagcgtAGATCGAGACCCGACGC chr17:57923660-Alternative-A;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative C ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ATCGATCACGAC CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAatcgatcacgacAGATCGAGACCCGACGC chr17:57923660-Alternative-C;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative C ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactga GATGATAGCCTT CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAgatgatagccttAGATCGAGACCCGACGC chr17:57923660-Alternative-C;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative C ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactga ATCTCCGGAAGG CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAatctccggaaggAGATCGAGACCCGACGC chr17:57923660-Alternative-C;Patient-100 chr17:57923660-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.33 7.54 0.64 TUBD1 46645 Alternative C ttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactga AACCGAACCGAC CGACGCGGTCTCTCTCTttgtgtcagcagcagttgctgctctaatttaggaaccctaggatctgattCaggacatttggaatctttaaggcacattcgatctagaaagtggaactgaAGAGGGAGACGGACGTCTCAATAAaaccgaaccgacAGATCGAGACCCGACGC chr17:57923660-Alternative-C;Patient-100 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Variant C aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa CGTCCGGATTCA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAcgtccggattcaAGATCGAGACCCGACGC chr17:58023860-Variant-C;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Reference T aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa CAGGTAAGAGCA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAcaggtaagagcaAGATCGAGACCCGACGC chr17:58023860-Reference-T;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative A aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa AGTAAGCGAACC CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAagtaagcgaaccAGATCGAGACCCGACGC chr17:58023860-Alternative-A;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative A aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa AGCTATGCGGAC CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAagctatgcggacAGATCGAGACCCGACGC chr17:58023860-Alternative-A;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Variant C aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa ACCTGGCTTAGG CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAacctggcttaggAGATCGAGACCCGACGC chr17:58023860-Variant-C;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Reference T aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa AGATACCTGAGA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAagatacctgagaAGATCGAGACCCGACGC chr17:58023860-Reference-T;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative A aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GTATCCTAGCGG CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgtatcctagcggAGATCGAGACCCGACGC chr17:58023860-Alternative-A;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative A aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GTCGTGTATCTT CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgtcgtgtatcttAGATCGAGACCCGACGC chr17:58023860-Alternative-A;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Reference T aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GTCAGGTCAGCT CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgtcaggtcagctAGATCGAGACCCGACGC chr17:58023860-Reference-T;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Variant C aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GAGCACGCTAAC CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgagcacgctaacAGATCGAGACCCGACGC chr17:58023860-Variant-C;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative G aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa AACGTTGCGGAA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAaacgttgcggaaAGATCGAGACCCGACGC chr17:58023860-Alternative-G;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Variant C aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GCCAAGTCAATT CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgccaagtcaattAGATCGAGACCCGACGC chr17:58023860-Variant-C;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Variant C aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GTGTTGCTGCCT CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcCtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgtgttgctgcctAGATCGAGACCCGACGC chr17:58023860-Variant-C;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Reference T aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa CGAATGGTGTGG CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAcgaatggtgtggAGATCGAGACCCGACGC chr17:58023860-Reference-T;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative G aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GATGATAGACCA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgatgatagaccaAGATCGAGACCCGACGC chr17:58023860-Alternative-G;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative G aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GCGGCGAAGTAA CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgcggcgaagtaaAGATCGAGACCCGACGC chr17:58023860-Alternative-G;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Reference T aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GTTACTATCGGT CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcTtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgttactatcggtAGATCGAGACCCGACGC chr17:58023860-Reference-T;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative A aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa ACACCGGATAGG CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcAtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAacaccggataggAGATCGAGACCCGACGC chr17:58023860-Alternative-A;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative G aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa GAGGTGTCGAAC CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAgaggtgtcgaacAGATCGAGACCCGACGC chr17:58023860-Alternative-G;Patient-67 chr17:58023860-TC DeNovo Patient-67 intronic RPS6KB1 NA 9.69e-05 0.68 10.91 -2 RPS6KB1 53452 Alternative G aaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaa AGCCGCAGTATC CGACGCGGTCTCTCTCTaaataaatgtcatgttaccccactccctttaaacgtaaaggaaatatgtcGtgttgagatgacccttaagcaaatgaatgatagctcttccttgtcttaaAGAGGGAGACGGACGTCTCAATAAagccgcagtatcAGATCGAGACCCGACGC chr17:58023860-Alternative-G;Patient-67 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative C ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GCAGGTAAGAGT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgcaggtaagagtAGATCGAGACCCGACGC chr17:58049230-Alternative-C;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative C ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CTCGTGAATCGG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAActcgtgaatcggAGATCGAGACCCGACGC chr17:58049230-Alternative-C;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative T ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GTTAGCATACGG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgttagcatacggAGATCGAGACCCGACGC chr17:58049230-Alternative-T;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Reference G ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttg AGTTAGGAACAG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAagttaggaacagAGATCGAGACCCGACGC chr17:58049230-Reference-G;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Reference G ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GAGAGCTCTCGT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgagagctctcgtAGATCGAGACCCGACGC chr17:58049230-Reference-G;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Variant A ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CACGCTAATACG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAcacgctaatacgAGATCGAGACCCGACGC chr17:58049230-Variant-A;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative T ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttg ATATAGGCACGA CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAatataggcacgaAGATCGAGACCCGACGC chr17:58049230-Alternative-T;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Variant A ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GTAGCCTATATC CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgtagcctatatcAGATCGAGACCCGACGC chr17:58049230-Variant-A;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Reference G ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CGCAAGCGATGA CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAcgcaagcgatgaAGATCGAGACCCGACGC chr17:58049230-Reference-G;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Reference G ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CTCAATTGGTCG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAActcaattggtcgAGATCGAGACCCGACGC chr17:58049230-Reference-G;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative T ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GCGATTAGCCAT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgcgattagccatAGATCGAGACCCGACGC chr17:58049230-Alternative-T;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative C ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GTGTTCACCGGT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgtgttcaccggtAGATCGAGACCCGACGC chr17:58049230-Alternative-C;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative C ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GATACCTGGTCT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgatacctggtctAGATCGAGACCCGACGC chr17:58049230-Alternative-C;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Reference G ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttg ATACCAACACCG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccGggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAataccaacaccgAGATCGAGACCCGACGC chr17:58049230-Reference-G;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Variant A ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttg ACCTGTGCGAAG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAacctgtgcgaagAGATCGAGACCCGACGC chr17:58049230-Variant-A;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Variant A ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttg GTCCGGAGATGA CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAgtccggagatgaAGATCGAGACCCGACGC chr17:58049230-Variant-A;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative C ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CTATCAACGCGG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccCggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAActatcaacgcggAGATCGAGACCCGACGC chr17:58049230-Alternative-C;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Variant A ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttg AATACGCGTACT CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccAggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAaatacgcgtactAGATCGAGACCCGACGC chr17:58049230-Variant-A;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative T ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CGATCGATCGAG CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAAcgatcgatcgagAGATCGAGACCCGACGC chr17:58049230-Alternative-T;Patient-8 chr17:58049230-GA DeNovo Patient-8 intergenic NA 0.000243 -0.02 2.29 0.25 RPS6KB1 78822 Alternative T ttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttg CTTAGTCCATAC CGACGCGGTCTCTCTCTttgaactcccaagctcaagtgatcctccctcctcagcctcccaagtttccTggactacatgtgcatgctgccacacccagctgagttctaaaattttttgAGAGGGAGACGGACGTCTCAATAActtagtccatacAGATCGAGACCCGACGC chr17:58049230-Alternative-T;Patient-8 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Variant G ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca AACTTGAGGAGT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAaacttgaggagtAGATCGAGACCCGACGC chr17:58166353-Variant-G;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Variant G ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca CTCTATTACGAC CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAActctattacgacAGATCGAGACCCGACGC chr17:58166353-Variant-G;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Variant G ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca CAGGCGAGTGTT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAcaggcgagtgttAGATCGAGACCCGACGC chr17:58166353-Variant-G;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative T ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca ACTATGTCGTTC CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAactatgtcgttcAGATCGAGACCCGACGC chr17:58166353-Alternative-T;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Reference A ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca ACGGCGCAGATA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAacggcgcagataAGATCGAGACCCGACGC chr17:58166353-Reference-A;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative C ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca AACGATGTTCGT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAaacgatgttcgtAGATCGAGACCCGACGC chr17:58166353-Alternative-C;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative T ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GACGAATAGCAT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAgacgaatagcatAGATCGAGACCCGACGC chr17:58166353-Alternative-T;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Variant G ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca CGTGTGAAGCCA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAcgtgtgaagccaAGATCGAGACCCGACGC chr17:58166353-Variant-G;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative C ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca AATGATCCGGAA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAaatgatccggaaAGATCGAGACCCGACGC chr17:58166353-Alternative-C;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Variant G ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GAGTTGTATCGA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaGtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAgagttgtatcgaAGATCGAGACCCGACGC chr17:58166353-Variant-G;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative C ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca CTCTATGGAGCT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAActctatggagctAGATCGAGACCCGACGC chr17:58166353-Alternative-C;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Reference A ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca AATCGATGCACA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAaatcgatgcacaAGATCGAGACCCGACGC chr17:58166353-Reference-A;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Reference A ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca ACGCGTCTGACT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAacgcgtctgactAGATCGAGACCCGACGC chr17:58166353-Reference-A;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative T ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca CGTCAGCCAAGT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAcgtcagccaagtAGATCGAGACCCGACGC chr17:58166353-Alternative-T;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative T ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GTCGAACTCGCA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAgtcgaactcgcaAGATCGAGACCCGACGC chr17:58166353-Alternative-T;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Reference A ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca ACTACACGGCGT CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAactacacggcgtAGATCGAGACCCGACGC chr17:58166353-Reference-A;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative T ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GGACTTACCATA CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaTtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAggacttaccataAGATCGAGACCCGACGC chr17:58166353-Alternative-T;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Reference A ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GACGAGGTACAC CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaAtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAgacgaggtacacAGATCGAGACCCGACGC chr17:58166353-Reference-A;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative C ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca AATACGTCCAAC CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAaatacgtccaacAGATCGAGACCCGACGC chr17:58166353-Alternative-C;Patient-91 chr17:58166353-AG Inherited Patient-91 intergenic NA 0.000243 0.12 4.59 -3.18 CA4 60948 Alternative C ccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatca GATTGGTTATGC CGACGCGGTCTCTCTCTccacacccgcccacctccacccccaacttccaggcctagcacctctggaaCtgagggcagggaaaagcagtacagaacaggcaggggtgctcccttatcaAGAGGGAGACGGACGTCTCAATAAgattggttatgcAGATCGAGACCCGACGC chr17:58166353-Alternative-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative G gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GTTGACGTAGTT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAgttgacgtagttAGATCGAGACCCGACGC chr17:60089096-Alternative-G;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative G gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GGATGCGTAGTC CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAggatgcgtagtcAGATCGAGACCCGACGC chr17:60089096-Alternative-G;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative G gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CAGTAGGAGATT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcagtaggagattAGATCGAGACCCGACGC chr17:60089096-Alternative-G;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative G gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CGAGTCAATAGT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcgagtcaatagtAGATCGAGACCCGACGC chr17:60089096-Alternative-G;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Variant T gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaat AAGACGGCTTAA CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAaagacggcttaaAGATCGAGACCCGACGC chr17:60089096-Variant-T;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Variant T gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GATGGCATGACG CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAgatggcatgacgAGATCGAGACCCGACGC chr17:60089096-Variant-T;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Variant T gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GTCTCGCCTCTT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAgtctcgcctcttAGATCGAGACCCGACGC chr17:60089096-Variant-T;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Variant T gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaat AAGTCCGGAACT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAaagtccggaactAGATCGAGACCCGACGC chr17:60089096-Variant-T;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Reference C gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CTCTGAACGTCC CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAActctgaacgtccAGATCGAGACCCGACGC chr17:60089096-Reference-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative A gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GGTGTATCCTGG CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAggtgtatcctggAGATCGAGACCCGACGC chr17:60089096-Alternative-A;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Reference C gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CGGCCATACGTT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcggccatacgttAGATCGAGACCCGACGC chr17:60089096-Reference-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Reference C gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CGACTCATTATC CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcgactcattatcAGATCGAGACCCGACGC chr17:60089096-Reference-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative G gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GTACTGCTGCCA CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgGtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAgtactgctgccaAGATCGAGACCCGACGC chr17:60089096-Alternative-G;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Reference C gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CAGATCCATTGT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcagatccattgtAGATCGAGACCCGACGC chr17:60089096-Reference-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative A gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaat ACACGACTTCGC CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAacacgacttcgcAGATCGAGACCCGACGC chr17:60089096-Alternative-A;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Reference C gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CTTAATCGTCAC CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgCtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAActtaatcgtcacAGATCGAGACCCGACGC chr17:60089096-Reference-C;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Variant T gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaat GTTCATCACACT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgTtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAgttcatcacactAGATCGAGACCCGACGC chr17:60089096-Variant-T;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative A gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CTTGCATGTTCA CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAActtgcatgttcaAGATCGAGACCCGACGC chr17:60089096-Alternative-A;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative A gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaat AGGAGATGACGG CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAaggagatgacggAGATCGAGACCCGACGC chr17:60089096-Alternative-A;Patient-91 chr17:60089096-CT Inherited Patient-91 intronic MED13 0.000318 4.95e-05 -0.17 0.9 -1.13 MED13 53546 Alternative A gaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaat CGCCTGTTGGTT CGACGCGGTCTCTCTCTgaaagcgtattctactctactaaatagaagttacatcagtctggaaagtgAtagaattgactgattgatgggcctcacaccatacctaccttctccaaatAGAGGGAGACGGACGTCTCAATAAcgcctgttggttAGATCGAGACCCGACGC chr17:60089096-Alternative-A;Patient-91 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Reference G aaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctac GGCTTACAAGCG CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAggcttacaagcgAGATCGAGACCCGACGC chr17:60135086-Reference-G;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative C aaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctac ACATAGCGGAGA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAacatagcggagaAGATCGAGACCCGACGC chr17:60135086-Alternative-C;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative T aaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctac AGATACGATGCA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAagatacgatgcaAGATCGAGACCCGACGC chr17:60135086-Alternative-T;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative T aaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctac AGTTCGCATTGA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAagttcgcattgaAGATCGAGACCCGACGC chr17:60135086-Alternative-T;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Reference G aaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctac GCCTTCTTAGGT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAgccttcttaggtAGATCGAGACCCGACGC chr17:60135086-Reference-G;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Reference G aaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctac CTCGCGTATTAA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAActcgcgtattaaAGATCGAGACCCGACGC chr17:60135086-Reference-G;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Reference G aaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctac GGTTATAGTCGT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAggttatagtcgtAGATCGAGACCCGACGC chr17:60135086-Reference-G;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative C aaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctac CTCATGCGATCG CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAActcatgcgatcgAGATCGAGACCCGACGC chr17:60135086-Alternative-C;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative T aaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctac AGGTTGGTGGAA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAaggttggtggaaAGATCGAGACCCGACGC chr17:60135086-Alternative-T;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Reference G aaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctac CGGAACTAGTCG CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatGataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAcggaactagtcgAGATCGAGACCCGACGC chr17:60135086-Reference-G;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Variant A aaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctac CTGTGGAGTACC CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAActgtggagtaccAGATCGAGACCCGACGC chr17:60135086-Variant-A;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Variant A aaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctac ACAGACTTCGGT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAacagacttcggtAGATCGAGACCCGACGC chr17:60135086-Variant-A;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative T aaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctac CTCAATCCGCGA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAActcaatccgcgaAGATCGAGACCCGACGC chr17:60135086-Alternative-T;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative T aaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctac CGACTTCTCACA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatTataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAcgacttctcacaAGATCGAGACCCGACGC chr17:60135086-Alternative-T;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative C aaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctac CAGGTAGTATGA CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAcaggtagtatgaAGATCGAGACCCGACGC chr17:60135086-Alternative-C;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Variant A aaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctac AAGTTGTTCCGT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAaagttgttccgtAGATCGAGACCCGACGC chr17:60135086-Variant-A;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative C aaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctac ATCCTAGATCCT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAatcctagatcctAGATCGAGACCCGACGC chr17:60135086-Alternative-C;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Variant A aaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctac CGTCCAACTGAG CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAcgtccaactgagAGATCGAGACCCGACGC chr17:60135086-Variant-A;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Variant A aaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctac GCGTCTAACAAT CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatAataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAgcgtctaacaatAGATCGAGACCCGACGC chr17:60135086-Variant-A;Patient-82 chr17:60135086-GA DeNovo Patient-82 intronic MED13 0.000191 4.95e-05 0.21 6.04 2.16 MED13 7556 Alternative C aaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctac GATAGAATCACG CGACGCGGTCTCTCTCTaaaattaaattcagaacaatagtccacttagtttgagcactattcattatCataaaattctggtataataaaactatctgaacatgttactaaaatctacAGAGGGAGACGGACGTCTCAATAAgatagaatcacgAGATCGAGACCCGACGC chr17:60135086-Alternative-C;Patient-82 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative T ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GGCACGTTACGT CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAggcacgttacgtAGATCGAGACCCGACGC chr17:61898000-Alternative-T;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Reference G ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CAACGGTGTCAC CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAcaacggtgtcacAGATCGAGACCCGACGC chr17:61898000-Reference-G;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Reference G ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CTTGATTACCAC CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAActtgattaccacAGATCGAGACCCGACGC chr17:61898000-Reference-G;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative C ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CTTAACGGCGAC CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAActtaacggcgacAGATCGAGACCCGACGC chr17:61898000-Alternative-C;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative C ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg AAGTAGGATGCT CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAaagtaggatgctAGATCGAGACCCGACGC chr17:61898000-Alternative-C;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative T ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GACATCGTGGAG CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgacatcgtggagAGATCGAGACCCGACGC chr17:61898000-Alternative-T;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Reference G ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CGTGTTACAAGT CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAcgtgttacaagtAGATCGAGACCCGACGC chr17:61898000-Reference-G;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative C ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GTATCAAGGAAC CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgtatcaaggaacAGATCGAGACCCGACGC chr17:61898000-Alternative-C;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative C ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CGTTACCGTAGG CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAcgttaccgtaggAGATCGAGACCCGACGC chr17:61898000-Alternative-C;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Variant A ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GAGTTGGAATCA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgagttggaatcaAGATCGAGACCCGACGC chr17:61898000-Variant-A;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Variant A ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GAGAGTTGGTCG CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgagagttggtcgAGATCGAGACCCGACGC chr17:61898000-Variant-A;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative T ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GCGTCGTGCTAA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgcgtcgtgctaaAGATCGAGACCCGACGC chr17:61898000-Alternative-T;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative T ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg CAGCGGTTATCG CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAcagcggttatcgAGATCGAGACCCGACGC chr17:61898000-Alternative-T;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative T ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg ACACGATACGTC CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcTtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAacacgatacgtcAGATCGAGACCCGACGC chr17:61898000-Alternative-T;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Reference G ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg ACTCACGCTAGA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAactcacgctagaAGATCGAGACCCGACGC chr17:61898000-Reference-G;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Alternative C ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GCAGCTGACGAA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcCtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAgcagctgacgaaAGATCGAGACCCGACGC chr17:61898000-Alternative-C;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Variant A ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg GGCTTGCTCGAA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAggcttgctcgaaAGATCGAGACCCGACGC chr17:61898000-Variant-A;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Reference G ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg ATAGCGTCGAGA CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcGtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAatagcgtcgagaAGATCGAGACCCGACGC chr17:61898000-Reference-G;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Variant A ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg ACGCATAGTAAG CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAacgcatagtaagAGATCGAGACCCGACGC chr17:61898000-Variant-A;Patient-57 chr17:61898000-GA DeNovo Patient-57 intronic FTSJ3 0.000128 0.000346 -0.64 0.03 -0.85 PSMC5 6769 Variant A ccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcg AGGTGAATAGCT CGACGCGGTCTCTCTCTccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgggcAtggtggttggcacctgtaatcccagctactcagaaggctgactcaagcgAGAGGGAGACGGACGTCTCAATAAaggtgaatagctAGATCGAGACCCGACGC chr17:61898000-Variant-A;Patient-57 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Reference G atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AGCAAGGCACGA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAagcaaggcacgaAGATCGAGACCCGACGC chr17:63121663-Reference-G;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Reference G atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AACCGTACATTC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAaaccgtacattcAGATCGAGACCCGACGC chr17:63121663-Reference-G;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Reference G atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt CATCCAACCGAC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAcatccaaccgacAGATCGAGACCCGACGC chr17:63121663-Reference-G;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Reference G atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GGATGTATATGG CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAggatgtatatggAGATCGAGACCCGACGC chr17:63121663-Reference-G;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Reference G atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt ATCGTTGGTCGC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagGtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAatcgttggtcgcAGATCGAGACCCGACGC chr17:63121663-Reference-G;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Variant T atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AGTAACGAAGCT CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAagtaacgaagctAGATCGAGACCCGACGC chr17:63121663-Variant-T;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative A atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GGCTCGTTAATA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAggctcgttaataAGATCGAGACCCGACGC chr17:63121663-Alternative-A;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Variant T atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GTTAGGAACATC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAgttaggaacatcAGATCGAGACCCGACGC chr17:63121663-Variant-T;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative A atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt CGTTGTGCTGAG CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAcgttgtgctgagAGATCGAGACCCGACGC chr17:63121663-Alternative-A;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Variant T atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt CGAGTGGTCCTA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAcgagtggtcctaAGATCGAGACCCGACGC chr17:63121663-Variant-T;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative C atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GTCCGTTCTGCA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAgtccgttctgcaAGATCGAGACCCGACGC chr17:63121663-Alternative-C;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Variant T atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GGACTTACACCT CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAggacttacacctAGATCGAGACCCGACGC chr17:63121663-Variant-T;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative A atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt GTTGAGCTTAAC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAgttgagcttaacAGATCGAGACCCGACGC chr17:63121663-Alternative-A;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative A atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt ACACGTCCGACT CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAacacgtccgactAGATCGAGACCCGACGC chr17:63121663-Alternative-A;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative A atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt CTCATTGGCCGT CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagAtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAActcattggccgtAGATCGAGACCCGACGC chr17:63121663-Alternative-A;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative C atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt ACATAACTCGTC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAacataactcgtcAGATCGAGACCCGACGC chr17:63121663-Alternative-C;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Variant T atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AATCGGCTGACC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagTtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAaatcggctgaccAGATCGAGACCCGACGC chr17:63121663-Variant-T;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative C atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AGACGACTAACA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAagacgactaacaAGATCGAGACCCGACGC chr17:63121663-Alternative-C;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative C atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt AAGAAGATTCGC CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAaagaagattcgcAGATCGAGACCCGACGC chr17:63121663-Alternative-C;Patient-55 chr17:63121663-GT DeNovo Patient-55 intergenic NA 0.000513 0.03 3.18 1.22 RGS9 11792 Alternative C atctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaaccctt ACCGGACAGCTA CGACGCGGTCTCTCTCTatctcaacaaagatatagtaagacactagggaaaggacaggcttcattagCtgcctggaggagatgggtcaggccagcctggaaaccctcgaaaacccttAGAGGGAGACGGACGTCTCAATAAaccggacagctaAGATCGAGACCCGACGC chr17:63121663-Alternative-C;Patient-55 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Reference A caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ACAACTAAGGCA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAacaactaaggcaAGATCGAGACCCGACGC chr17:6324632-Reference-A;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Reference A caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgcca AGTCGACGTGCT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAagtcgacgtgctAGATCGAGACCCGACGC chr17:6324632-Reference-A;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Variant C caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ATTACGTAGCGT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAattacgtagcgtAGATCGAGACCCGACGC chr17:6324632-Variant-C;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Reference A caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ACAAGGTTGCCG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAacaaggttgccgAGATCGAGACCCGACGC chr17:6324632-Reference-A;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Variant C caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GAGGTACGTCGA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgaggtacgtcgaAGATCGAGACCCGACGC chr17:6324632-Variant-C;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Variant C caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTGTTCTATTCG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgtgttctattcgAGATCGAGACCCGACGC chr17:6324632-Variant-C;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Reference A caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTAATCGGCGAG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgtaatcggcgagAGATCGAGACCCGACGC chr17:6324632-Reference-A;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative T caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgcca CGATATACGGAA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAcgatatacggaaAGATCGAGACCCGACGC chr17:6324632-Alternative-T;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative T caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTGTACTAGGTT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgtgtactaggttAGATCGAGACCCGACGC chr17:6324632-Alternative-T;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative T caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ATATGCGTGGAA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAatatgcgtggaaAGATCGAGACCCGACGC chr17:6324632-Alternative-T;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Variant C caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgcca CTTACTATGCGA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAActtactatgcgaAGATCGAGACCCGACGC chr17:6324632-Variant-C;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative T caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTTACGGACGAG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgttacggacgagAGATCGAGACCCGACGC chr17:6324632-Alternative-T;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Variant C caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgcca AGTTAGGTCTGA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaCaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAagttaggtctgaAGATCGAGACCCGACGC chr17:6324632-Variant-C;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Reference A caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTCCGTGATTCA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaAaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgtccgtgattcaAGATCGAGACCCGACGC chr17:6324632-Reference-A;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative T caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ATTGCCTCGAAG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaTaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAattgcctcgaagAGATCGAGACCCGACGC chr17:6324632-Alternative-T;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative G caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GACATACGTCTA CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgacatacgtctaAGATCGAGACCCGACGC chr17:6324632-Alternative-G;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative G caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgcca ACCTTGCACGCT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAaccttgcacgctAGATCGAGACCCGACGC chr17:6324632-Alternative-G;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative G caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgcca GTCGCAAGAACG CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAgtcgcaagaacgAGATCGAGACCCGACGC chr17:6324632-Alternative-G;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative G caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgcca CGCCAATGTCCT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAAcgccaatgtcctAGATCGAGACCCGACGC chr17:6324632-Alternative-G;Patient-39 chr17:6324632-AC DeNovo Patient-39 intergenic 0.000127 0.000513 -0.05 1.88 -0.81 AIPL1 13886 Alternative G caaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgcca CTGGCGTGTTGT CGACGCGGTCTCTCTCTcaaggcaaggaatacaggcagcctctaaaagctgaaataggcaggaaagaGaatggactctctcctccggcctctggaaagaacacagccctgcctgccaAGAGGGAGACGGACGTCTCAATAActggcgtgttgtAGATCGAGACCCGACGC chr17:6324632-Alternative-G;Patient-39 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Reference C agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc ACAAGGTCGAAC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAacaaggtcgaacAGATCGAGACCCGACGC chr17:63555037-Reference-C;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Variant T agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GATCCAAGCGAA CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgatccaagcgaaAGATCGAGACCCGACGC chr17:63555037-Variant-T;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Variant T agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GTACGAGCACAC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgtacgagcacacAGATCGAGACCCGACGC chr17:63555037-Variant-T;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative A agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GGCGTCTACGAT CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAggcgtctacgatAGATCGAGACCCGACGC chr17:63555037-Alternative-A;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Reference C agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc ACCGGAGTATGC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAaccggagtatgcAGATCGAGACCCGACGC chr17:63555037-Reference-C;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative A agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc CAAGCTCGATGA CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAcaagctcgatgaAGATCGAGACCCGACGC chr17:63555037-Alternative-A;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative A agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GAGTTATCGGAT CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgagttatcggatAGATCGAGACCCGACGC chr17:63555037-Alternative-A;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative A agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc CAACACATTGAG CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAcaacacattgagAGATCGAGACCCGACGC chr17:63555037-Alternative-A;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative G agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc CGATGCCTAACC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAcgatgcctaaccAGATCGAGACCCGACGC chr17:63555037-Alternative-G;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Variant T agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc ATAACGAGCATC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAataacgagcatcAGATCGAGACCCGACGC chr17:63555037-Variant-T;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Reference C agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc AGGCTATAAGCA CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAaggctataagcaAGATCGAGACCCGACGC chr17:63555037-Reference-C;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative G agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc ATTATCGTGTGG CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAattatcgtgtggAGATCGAGACCCGACGC chr17:63555037-Alternative-G;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative A agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc ACGATCCGCAAG CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagAgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAacgatccgcaagAGATCGAGACCCGACGC chr17:63555037-Alternative-A;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Variant T agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc AACTACCGTCTA CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAaactaccgtctaAGATCGAGACCCGACGC chr17:63555037-Variant-T;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative G agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GGTTACTCGCGA CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAggttactcgcgaAGATCGAGACCCGACGC chr17:63555037-Alternative-G;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative G agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GTAAGAATGTGC CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgtaagaatgtgcAGATCGAGACCCGACGC chr17:63555037-Alternative-G;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Alternative G agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GTCTAGGTTCGG CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagGgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgtctaggttcggAGATCGAGACCCGACGC chr17:63555037-Alternative-G;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Variant T agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc GTAGAAGAGAGT CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagTgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAgtagaagagagtAGATCGAGACCCGACGC chr17:63555037-Variant-T;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Reference C agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc AACCGGTAACTT CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAaaccggtaacttAGATCGAGACCCGACGC chr17:63555037-Reference-C;Patient-44 chr17:63555037-CT DeNovo Patient-44 intronic AXIN2 3.2e-05 0.000798 1.75 17.1 0.15 AXIN2 2702 Reference C agctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagc CAATTATGGTGG CGACGCGGTCTCTCTCTagctatctgcgaggtgctcatctaaagtatcaggcgctgcttttcaaaagCgaaatctgagctccctgcacacttttcggggttgggggtgggagggagcAGAGGGAGACGGACGTCTCAATAAcaattatggtggAGATCGAGACCCGACGC chr17:63555037-Reference-C;Patient-44 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Variant A tcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACAGATAAGCGT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAacagataagcgtAGATCGAGACCCGACGC chr17:64329663-Variant-A;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative T tcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacct AGTTAGGTAGCA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAagttaggtagcaAGATCGAGACCCGACGC chr17:64329663-Alternative-T;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Variant A tcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacct GGTACGGCTATC CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAggtacggctatcAGATCGAGACCCGACGC chr17:64329663-Variant-A;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Variant A tcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACGCATACTAAC CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAacgcatactaacAGATCGAGACCCGACGC chr17:64329663-Variant-A;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative C tcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CATTGGAGCGTC CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAcattggagcgtcAGATCGAGACCCGACGC chr17:64329663-Alternative-C;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative C tcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CGTCAGAACGAA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAcgtcagaacgaaAGATCGAGACCCGACGC chr17:64329663-Alternative-C;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Variant A tcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CACTTAGGACGT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAcacttaggacgtAGATCGAGACCCGACGC chr17:64329663-Variant-A;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative T tcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacct AGTATACGAGGT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAagtatacgaggtAGATCGAGACCCGACGC chr17:64329663-Alternative-T;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative C tcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacct GCCAATTGGATA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAgccaattggataAGATCGAGACCCGACGC chr17:64329663-Alternative-C;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative C tcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACACAGCGTTCG CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAacacagcgttcgAGATCGAGACCCGACGC chr17:64329663-Alternative-C;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative T tcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACTCGGTAGTTA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAactcggtagttaAGATCGAGACCCGACGC chr17:64329663-Alternative-T;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative T tcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CTTAGTCGAACG CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAActtagtcgaacgAGATCGAGACCCGACGC chr17:64329663-Alternative-T;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative C tcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacct GTTCAACTAGGT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaCgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAgttcaactaggtAGATCGAGACCCGACGC chr17:64329663-Alternative-C;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Variant A tcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CACACATTACCA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaAgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAcacacattaccaAGATCGAGACCCGACGC chr17:64329663-Variant-A;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Alternative T tcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACGTCCGTTAGA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaTgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAacgtccgttagaAGATCGAGACCCGACGC chr17:64329663-Alternative-T;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Reference G tcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CTCTGCCAAGAT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAActctgccaagatAGATCGAGACCCGACGC chr17:64329663-Reference-G;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Reference G tcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacct GCCAATCTATCA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAgccaatctatcaAGATCGAGACCCGACGC chr17:64329663-Reference-G;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Reference G tcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ACGCATGTCCGA CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAacgcatgtccgaAGATCGAGACCCGACGC chr17:64329663-Reference-G;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Reference G tcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacct ATTCCTGTTGCG CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAAattcctgttgcgAGATCGAGACCCGACGC chr17:64329663-Reference-G;Patient-33 chr17:64329663-GA DeNovo Patient-33 intronic PRKCA NA 4.95e-05 NA NA NA PRKCA 30718 Reference G tcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacct CTAACCAGCGGT CGACGCGGTCTCTCTCTtcactcagttgccttttatataattacattctttatcagttgttggtaaaGgttcacttcattttaactagttttcaagttctgtcaggggagagaacctAGAGGGAGACGGACGTCTCAATAActaaccagcggtAGATCGAGACCCGACGC chr17:64329663-Reference-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative G gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagtttta ATCTGGTCGATA CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAatctggtcgataAGATCGAGACCCGACGC chr17:64334136-Alternative-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative G gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CGGTGCCGATAA CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAcggtgccgataaAGATCGAGACCCGACGC chr17:64334136-Alternative-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Variant T gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagtttta AATGGCATCTGG CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAaatggcatctggAGATCGAGACCCGACGC chr17:64334136-Variant-T;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Reference C gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CTGCTTGCTACG CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAActgcttgctacgAGATCGAGACCCGACGC chr17:64334136-Reference-C;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Variant T gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GCGCGATATGGT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAgcgcgatatggtAGATCGAGACCCGACGC chr17:64334136-Variant-T;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative G gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GACGACATTACG CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAgacgacattacgAGATCGAGACCCGACGC chr17:64334136-Alternative-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative G gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagtttta ACAGGTAGAACG CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAacaggtagaacgAGATCGAGACCCGACGC chr17:64334136-Alternative-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Reference C gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagtttta AGGTACGACAGT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAaggtacgacagtAGATCGAGACCCGACGC chr17:64334136-Reference-C;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Reference C gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GATACATGTCGT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAgatacatgtcgtAGATCGAGACCCGACGC chr17:64334136-Reference-C;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative G gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CTGAATCAGTGT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccGttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAActgaatcagtgtAGATCGAGACCCGACGC chr17:64334136-Alternative-G;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative A gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CGGAACATCGCT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAcggaacatcgctAGATCGAGACCCGACGC chr17:64334136-Alternative-A;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Variant T gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagtttta AATGTCGTGACT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAaatgtcgtgactAGATCGAGACCCGACGC chr17:64334136-Variant-T;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Reference C gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CTGCTTCATTCT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAActgcttcattctAGATCGAGACCCGACGC chr17:64334136-Reference-C;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative A gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CAATGGCATATC CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAcaatggcatatcAGATCGAGACCCGACGC chr17:64334136-Alternative-A;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative A gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagtttta ATTGGACCGTGC CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAattggaccgtgcAGATCGAGACCCGACGC chr17:64334136-Alternative-A;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Variant T gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CTCGCGATACGA CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAActcgcgatacgaAGATCGAGACCCGACGC chr17:64334136-Variant-T;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative A gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GATAGTGGAACT CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAgatagtggaactAGATCGAGACCCGACGC chr17:64334136-Alternative-A;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Reference C gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GGTTCGCTCGAA CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccCttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAggttcgctcgaaAGATCGAGACCCGACGC chr17:64334136-Reference-C;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Variant T gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagtttta CGTAGCGATGAG CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccTttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAcgtagcgatgagAGATCGAGACCCGACGC chr17:64334136-Variant-T;Patient-33 chr17:64334136-CT DeNovo Patient-33 intronic PRKCA NA 0.000148 NA NA NA PRKCA 35191 Alternative A gtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagtttta GCCGGTGTTAAC CGACGCGGTCTCTCTCTgtgtgtgtatgtgtgattgaacctgggaatcttcccccccctccgcccccAttaatttccaattgagtagtgattttttgtggttggagaggtagttttaAGAGGGAGACGGACGTCTCAATAAgccggtgttaacAGATCGAGACCCGACGC chr17:64334136-Alternative-A;Patient-33 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative T tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt AAGGCGTGATAT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAaaggcgtgatatAGATCGAGACCCGACGC chr17:64795722-Alternative-T;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Variant A tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CAGATCGTGCTA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcagatcgtgctaAGATCGAGACCCGACGC chr17:64795722-Variant-A;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative T tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt ACCGGTTCATAA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAaccggttcataaAGATCGAGACCCGACGC chr17:64795722-Alternative-T;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative T tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt GATGACGACCAT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAgatgacgaccatAGATCGAGACCCGACGC chr17:64795722-Alternative-T;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Reference G tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt AAGTTCGTGAGA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAaagttcgtgagaAGATCGAGACCCGACGC chr17:64795722-Reference-G;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Variant A tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt AGCATGCGAATT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAagcatgcgaattAGATCGAGACCCGACGC chr17:64795722-Variant-A;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative T tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CGTGCAGGTTCA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcgtgcaggttcaAGATCGAGACCCGACGC chr17:64795722-Alternative-T;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative T tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CACACGGTCGAT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgTtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcacacggtcgatAGATCGAGACCCGACGC chr17:64795722-Alternative-T;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative C tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CATGTTGGCAAT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcatgttggcaatAGATCGAGACCCGACGC chr17:64795722-Alternative-C;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative C tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt GCGTTATTAACG CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAgcgttattaacgAGATCGAGACCCGACGC chr17:64795722-Alternative-C;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Variant A tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt AGTGTTGGCTTA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAagtgttggcttaAGATCGAGACCCGACGC chr17:64795722-Variant-A;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Variant A tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CGAACCTGGACA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcgaacctggacaAGATCGAGACCCGACGC chr17:64795722-Variant-A;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Variant A tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CGTCAGACCAAT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgAtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcgtcagaccaatAGATCGAGACCCGACGC chr17:64795722-Variant-A;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Reference G tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt GGCGTGTAAGCA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAggcgtgtaagcaAGATCGAGACCCGACGC chr17:64795722-Reference-G;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative C tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt ATCGCAGACGCT CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAatcgcagacgctAGATCGAGACCCGACGC chr17:64795722-Alternative-C;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative C tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt GATGGTTCACAG CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAgatggttcacagAGATCGAGACCCGACGC chr17:64795722-Alternative-C;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Reference G tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CGGTAGGACGAA CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcggtaggacgaaAGATCGAGACCCGACGC chr17:64795722-Reference-G;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Alternative C tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt GGTACACGTAGG CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgCtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAggtacacgtaggAGATCGAGACCCGACGC chr17:64795722-Alternative-C;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Reference G tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt ATACCACCAACG CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAataccaccaacgAGATCGAGACCCGACGC chr17:64795722-Reference-G;Patient-92 chr17:64795722-GA DeNovo Patient-92 intronic PRKCA NA 0.000445 -0.04 2.07 0 CACNG5 77668 Reference G tggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggt CAACGGCTAGTC CGACGCGGTCTCTCTCTtggtggtggtggtgatggtggtggtggtgatggtggtggtggtgatggtgGtggtggtggtggtggtggtgatggtaatggtggtggtgatggtggtggtAGAGGGAGACGGACGTCTCAATAAcaacggctagtcAGATCGAGACCCGACGC chr17:64795722-Reference-G;Patient-92 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Variant G ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt AGCTCGTGTAAG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAagctcgtgtaagAGATCGAGACCCGACGC chr17:64861711-Variant-G;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Variant G ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GTACTCTGAACC CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAgtactctgaaccAGATCGAGACCCGACGC chr17:64861711-Variant-G;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Variant G ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CAACCTACTGCG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcaacctactgcgAGATCGAGACCCGACGC chr17:64861711-Variant-G;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Variant G ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CGGCTTCGAGAT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcggcttcgagatAGATCGAGACCCGACGC chr17:64861711-Variant-G;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Variant G ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CAGCGATGTCGT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaGatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcagcgatgtcgtAGATCGAGACCCGACGC chr17:64861711-Variant-G;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative C ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt AATAGGCGAGCG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAaataggcgagcgAGATCGAGACCCGACGC chr17:64861711-Alternative-C;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative T ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CATAGTTCGTCT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcatagttcgtctAGATCGAGACCCGACGC chr17:64861711-Alternative-T;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative T ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CATCGTTCGGCA CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcatcgttcggcaAGATCGAGACCCGACGC chr17:64861711-Alternative-T;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative C ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GGCTTCTCATCG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAggcttctcatcgAGATCGAGACCCGACGC chr17:64861711-Alternative-C;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative C ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GCGGATGGTAAG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAgcggatggtaagAGATCGAGACCCGACGC chr17:64861711-Alternative-C;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative T ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt ACGCCGATTCTT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAacgccgattcttAGATCGAGACCCGACGC chr17:64861711-Alternative-T;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative T ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt ACGTCTAACGCG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAacgtctaacgcgAGATCGAGACCCGACGC chr17:64861711-Alternative-T;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative T ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CTCGCGACCTTA CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaTatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAActcgcgaccttaAGATCGAGACCCGACGC chr17:64861711-Alternative-T;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Reference A ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GATCGAAGCCTT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAgatcgaagccttAGATCGAGACCCGACGC chr17:64861711-Reference-A;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Reference A ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GATCGTATCACT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAgatcgtatcactAGATCGAGACCCGACGC chr17:64861711-Reference-A;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Reference A ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt GGCGAGTTGTGA CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAggcgagttgtgaAGATCGAGACCCGACGC chr17:64861711-Reference-A;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Reference A ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CTCATCGCGCTT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAActcatcgcgcttAGATCGAGACCCGACGC chr17:64861711-Reference-A;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative C ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CATTGTGCTGTT CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcattgtgctgttAGATCGAGACCCGACGC chr17:64861711-Alternative-C;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Reference A ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt AATCTGTGCCGG CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaAatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAaatctgtgccggAGATCGAGACCCGACGC chr17:64861711-Reference-A;Patient-43 chr17:64861711-AG DeNovo Patient-43 intergenic NA 0.000513 0 2.59 1.28 CACNG5 11679 Alternative C ctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttcttttttttt CGTGGCCGATTA CGACGCGGTCTCTCTCTctgtctatgtagcaggacatttgttgtacctcaggcatcaggggtaaaaaCatgcctttaaaatctttcaaatcaagtctgacaaaatttctttttttttAGAGGGAGACGGACGTCTCAATAAcgtggccgattaAGATCGAGACCCGACGC chr17:64861711-Alternative-C;Patient-43 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative T gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattg ATACGGTCGTAC CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAatacggtcgtacAGATCGAGACCCGACGC chr17:64918579-Alternative-T;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative T gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattg GTCGTGAGAATA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgtcgtgagaataAGATCGAGACCCGACGC chr17:64918579-Alternative-T;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Reference G gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattg ACTAACGTCTGA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAactaacgtctgaAGATCGAGACCCGACGC chr17:64918579-Reference-G;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Reference G gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattg GGAACGAGTACC CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAggaacgagtaccAGATCGAGACCCGACGC chr17:64918579-Reference-G;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Reference G gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattg CATGTTATCCGT CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcatgttatccgtAGATCGAGACCCGACGC chr17:64918579-Reference-G;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Reference G gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattg CACGATTGGTCA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcacgattggtcaAGATCGAGACCCGACGC chr17:64918579-Reference-G;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Reference G gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattg GTTGTGATAAGG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtGtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgttgtgataaggAGATCGAGACCCGACGC chr17:64918579-Reference-G;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Variant A gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattg GTTACTCTGACA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgttactctgacaAGATCGAGACCCGACGC chr17:64918579-Variant-A;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Variant A gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattg AACGGCTTCGCA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAaacggcttcgcaAGATCGAGACCCGACGC chr17:64918579-Variant-A;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Variant A gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattg CATCGTGACGAC CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcatcgtgacgacAGATCGAGACCCGACGC chr17:64918579-Variant-A;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Variant A gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattg GATCGGCTTCGA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgatcggcttcgaAGATCGAGACCCGACGC chr17:64918579-Variant-A;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative T gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattg GATTCGCGACCA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgattcgcgaccaAGATCGAGACCCGACGC chr17:64918579-Alternative-T;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative T gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattg CTACACAACCGC CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAActacacaaccgcAGATCGAGACCCGACGC chr17:64918579-Alternative-T;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative T gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattg AGCATCGTTAAG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtTtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAagcatcgttaagAGATCGAGACCCGACGC chr17:64918579-Alternative-T;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative C gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattg CACATCACTAAG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcacatcactaagAGATCGAGACCCGACGC chr17:64918579-Alternative-C;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative C gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattg GTCAGATTGCCG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgtcagattgccgAGATCGAGACCCGACGC chr17:64918579-Alternative-C;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Variant A gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattg CACGACGTACAG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtAtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcacgacgtacagAGATCGAGACCCGACGC chr17:64918579-Variant-A;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative C gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattg CGTAACGGATGG CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcgtaacggatggAGATCGAGACCCGACGC chr17:64918579-Alternative-C;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative C gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattg GTACCTTGAACC CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAgtaccttgaaccAGATCGAGACCCGACGC chr17:64918579-Alternative-C;Patient-30 chr17:64918579-GA Inherited Patient-30 intergenic 0.000924 0.00256 NA NA NA CACNG4 42400 Alternative C gaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattg CGAGAGCAGTCA CGACGCGGTCTCTCTCTgaacctctatgccttctctgggcatgccaccctccaagaacctccattgtCtttagctatctggaggctctcttaaccctttcctttgggatttttattgAGAGGGAGACGGACGTCTCAATAAcgagagcagtcaAGATCGAGACCCGACGC chr17:64918579-Alternative-C;Patient-30 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Reference C gctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcaga ACATCATCGGAA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAacatcatcggaaAGATCGAGACCCGACGC chr17:64922027-Reference-C;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative A gctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcaga GCAGTTCTAACA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAgcagttctaacaAGATCGAGACCCGACGC chr17:64922027-Alternative-A;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Reference C gctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcaga GTCGGCAAGTCT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAgtcggcaagtctAGATCGAGACCCGACGC chr17:64922027-Reference-C;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Reference C gctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcaga CTACCATCATGT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAActaccatcatgtAGATCGAGACCCGACGC chr17:64922027-Reference-C;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Reference C gctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcaga AACGGTCTAGCA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAaacggtctagcaAGATCGAGACCCGACGC chr17:64922027-Reference-C;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Reference C gctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcaga CGAAGGTTGGAC CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccCacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAcgaaggttggacAGATCGAGACCCGACGC chr17:64922027-Reference-C;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative A gctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcaga AGGCTAATTGGT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAaggctaattggtAGATCGAGACCCGACGC chr17:64922027-Alternative-A;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative G gctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcaga AGGCTATAGCAA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAaggctatagcaaAGATCGAGACCCGACGC chr17:64922027-Alternative-G;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative A gctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcaga ATCGATCATCCT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAatcgatcatcctAGATCGAGACCCGACGC chr17:64922027-Alternative-A;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative A gctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcaga AGAGGTGACCGT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAagaggtgaccgtAGATCGAGACCCGACGC chr17:64922027-Alternative-A;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative A gctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcaga GCAGACGGAATC CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccAacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAgcagacggaatcAGATCGAGACCCGACGC chr17:64922027-Alternative-A;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative G gctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcaga AGAACCGCCGAA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAagaaccgccgaaAGATCGAGACCCGACGC chr17:64922027-Alternative-G;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative G gctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcaga CGCCGGTATCTA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAcgccggtatctaAGATCGAGACCCGACGC chr17:64922027-Alternative-G;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Variant T gctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcaga ACCTTGCAAGAT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAaccttgcaagatAGATCGAGACCCGACGC chr17:64922027-Variant-T;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative G gctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcaga CAGTAGAGTAGT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAcagtagagtagtAGATCGAGACCCGACGC chr17:64922027-Alternative-G;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Variant T gctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcaga GGCTCTATCGAG CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAggctctatcgagAGATCGAGACCCGACGC chr17:64922027-Variant-T;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Alternative G gctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcaga GGACCATCATAT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccGacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAggaccatcatatAGATCGAGACCCGACGC chr17:64922027-Alternative-G;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Variant T gctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcaga AGATCACGGTTC CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAagatcacggttcAGATCGAGACCCGACGC chr17:64922027-Variant-T;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Variant T gctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcaga GCGGCGATTAGT CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAgcggcgattagtAGATCGAGACCCGACGC chr17:64922027-Variant-T;Patient-92 chr17:64922027-CT Inherited Patient-92 intergenic 0.000446 0.00256 -0.22 0.61 -3.34 CACNG4 38952 Variant T gctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcaga GTCGTGGTTCGA CGACGCGGTCTCTCTCTgctctgtgctagactctgggggagacagagactaaggatgaatttcccccTacttactcctaccttcagggactatgacggtgttgagatacatctcagaAGAGGGAGACGGACGTCTCAATAAgtcgtggttcgaAGATCGAGACCCGACGC chr17:64922027-Variant-T;Patient-92 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative G accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ACACTTCGCCTA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAacacttcgcctaAGATCGAGACCCGACGC chr17:64975208-Alternative-G;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative G accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CGTGACCGATCA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAcgtgaccgatcaAGATCGAGACCCGACGC chr17:64975208-Alternative-G;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Reference C accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ACTCAAGTAACC CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAactcaagtaaccAGATCGAGACCCGACGC chr17:64975208-Reference-C;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative G accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CGCAGATTCGAC CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAcgcagattcgacAGATCGAGACCCGACGC chr17:64975208-Alternative-G;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative G accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CTAAGAGCTAAG CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAActaagagctaagAGATCGAGACCCGACGC chr17:64975208-Alternative-G;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Variant T accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CGAACGTGATAA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAcgaacgtgataaAGATCGAGACCCGACGC chr17:64975208-Variant-T;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative G accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt AAGCGCCAATAT CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattGgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAaagcgccaatatAGATCGAGACCCGACGC chr17:64975208-Alternative-G;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative A accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ATACGATCGGAA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAatacgatcggaaAGATCGAGACCCGACGC chr17:64975208-Alternative-A;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Reference C accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ATCACGAATCCT CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAatcacgaatcctAGATCGAGACCCGACGC chr17:64975208-Reference-C;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Variant T accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CGACTAACCTGG CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAcgactaacctggAGATCGAGACCCGACGC chr17:64975208-Variant-T;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative A accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CTCGCGACTATC CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAActcgcgactatcAGATCGAGACCCGACGC chr17:64975208-Alternative-A;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative A accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ATATACCTGTGG CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAatatacctgtggAGATCGAGACCCGACGC chr17:64975208-Alternative-A;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Variant T accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt GTGAATAAGCGT CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAgtgaataagcgtAGATCGAGACCCGACGC chr17:64975208-Variant-T;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Variant T accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ACGATCATACGC CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAacgatcatacgcAGATCGAGACCCGACGC chr17:64975208-Variant-T;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Variant T accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt ACCTGACCGAGA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattTgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAacctgaccgagaAGATCGAGACCCGACGC chr17:64975208-Variant-T;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Reference C accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt GGTATGTTCACA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAggtatgttcacaAGATCGAGACCCGACGC chr17:64975208-Reference-C;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Reference C accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CGCAGTCAACAT CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAcgcagtcaacatAGATCGAGACCCGACGC chr17:64975208-Reference-C;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative A accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt AGGCTTAACCGG CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAaggcttaaccggAGATCGAGACCCGACGC chr17:64975208-Alternative-A;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Reference C accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt AGCGGCAACGAT CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattCgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAAagcggcaacgatAGATCGAGACCCGACGC chr17:64975208-Reference-C;Patient-77 chr17:64975208-CT DeNovo Patient-77 intronic CACNG4 3.2e-05 4.95e-05 NA NA NA CACNG4 14227 Alternative A accctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttccttttt CTCTTCGATCAA CGACGCGGTCTCTCTCTaccctggtggtttctgatgtgtctccagtcttctttgtgctgctgccattAgcacagtcccagtcaccacacccacacggccaacctgaggttcctttttAGAGGGAGACGGACGTCTCAATAActcttcgatcaaAGATCGAGACCCGACGC chr17:64975208-Alternative-A;Patient-77 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Reference G gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccacca GATGTGACCGTC CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAgatgtgaccgtcAGATCGAGACCCGACGC chr17:65298226-Reference-G;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative C gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ACCTGGAGAATA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAacctggagaataAGATCGAGACCCGACGC chr17:65298226-Alternative-C;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative T gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ATCATCCGCAGA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAatcatccgcagaAGATCGAGACCCGACGC chr17:65298226-Alternative-T;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Variant A gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccacca CGTGTCTAATGA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAcgtgtctaatgaAGATCGAGACCCGACGC chr17:65298226-Variant-A;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative C gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccacca GGTTATCGTCGG CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAggttatcgtcggAGATCGAGACCCGACGC chr17:65298226-Alternative-C;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative C gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccacca AATCTCGTACAG CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAaatctcgtacagAGATCGAGACCCGACGC chr17:65298226-Alternative-C;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative T gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccacca CTAGTCGTCGAG CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAActagtcgtcgagAGATCGAGACCCGACGC chr17:65298226-Alternative-T;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Reference G gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccacca GGTGACTATCTA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAggtgactatctaAGATCGAGACCCGACGC chr17:65298226-Reference-G;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative C gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccacca AGGACTCGAGGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAaggactcgaggtAGATCGAGACCCGACGC chr17:65298226-Alternative-C;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Reference G gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ACGCAAGAATGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAacgcaagaatgtAGATCGAGACCCGACGC chr17:65298226-Reference-G;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative T gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccacca AACTCTAGGTGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAaactctaggtgtAGATCGAGACCCGACGC chr17:65298226-Alternative-T;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Variant A gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ATCGTTCGTTGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAatcgttcgttgtAGATCGAGACCCGACGC chr17:65298226-Variant-A;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative T gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccacca CGCCGCTTAGAT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAcgccgcttagatAGATCGAGACCCGACGC chr17:65298226-Alternative-T;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Variant A gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ATTACACGCTGA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAattacacgctgaAGATCGAGACCCGACGC chr17:65298226-Variant-A;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Variant A gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccacca CACGCTTAATGA CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAcacgcttaatgaAGATCGAGACCCGACGC chr17:65298226-Variant-A;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Reference G gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccacca ATCGTAGATCGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAatcgtagatcgtAGATCGAGACCCGACGC chr17:65298226-Reference-G;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative T gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccacca GTAAGCGTGAAT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcTattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAgtaagcgtgaatAGATCGAGACCCGACGC chr17:65298226-Alternative-T;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Reference G gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccacca AGTTGTGCACCG CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcGattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAagttgtgcaccgAGATCGAGACCCGACGC chr17:65298226-Reference-G;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Alternative C gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccacca GTCGAGGTGAGT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcCattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAgtcgaggtgagtAGATCGAGACCCGACGC chr17:65298226-Alternative-C;Patient-32 chr17:65298226-GA DeNovo Patient-32 intergenic NA 0.000513 -0.22 0.64 0 PSMD12 64494 Variant A gcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccacca CGACTCGGTTCT CGACGCGGTCTCTCTCTgcagtggcatgatcttggctcactgcaacctccacctcccagattcaagcAattctcgtgccttagcctcccgagtagctgggactacaggcacccaccaAGAGGGAGACGGACGTCTCAATAAcgactcggttctAGATCGAGACCCGACGC chr17:65298226-Variant-A;Patient-32 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Variant C gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttg CTTGCGAGTAGA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAActtgcgagtagaAGATCGAGACCCGACGC chr17:66041634-Variant-C;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Reference T gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttg ACAAGCTGTCAT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAacaagctgtcatAGATCGAGACCCGACGC chr17:66041634-Reference-T;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative A gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttg CAACGATAGTCA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAcaacgatagtcaAGATCGAGACCCGACGC chr17:66041634-Alternative-A;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Variant C gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttg CAACAACGCCTT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAcaacaacgccttAGATCGAGACCCGACGC chr17:66041634-Variant-C;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Variant C gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttg AGATTAGGCATC CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAagattaggcatcAGATCGAGACCCGACGC chr17:66041634-Variant-C;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative A gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttg CGCGCGGTTATA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAcgcgcggttataAGATCGAGACCCGACGC chr17:66041634-Alternative-A;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative G gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttg ATCCTAGTGGAT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAatcctagtggatAGATCGAGACCCGACGC chr17:66041634-Alternative-G;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative G gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttg ACTCTCTGGTTA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAactctctggttaAGATCGAGACCCGACGC chr17:66041634-Alternative-G;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative G gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttg CTTGTCGGTTAT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAActtgtcggttatAGATCGAGACCCGACGC chr17:66041634-Alternative-G;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Variant C gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttg ACAGCGAACGCA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAacagcgaacgcaAGATCGAGACCCGACGC chr17:66041634-Variant-C;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Reference T gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttg GACGACGACGAT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAgacgacgacgatAGATCGAGACCCGACGC chr17:66041634-Reference-T;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Reference T gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttg ATCCTCATGTCA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAatcctcatgtcaAGATCGAGACCCGACGC chr17:66041634-Reference-T;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Reference T gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttg GTCGCATGATTA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAgtcgcatgattaAGATCGAGACCCGACGC chr17:66041634-Reference-T;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Variant C gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttg AGCTAGGATCTT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaCagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAagctaggatcttAGATCGAGACCCGACGC chr17:66041634-Variant-C;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative A gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttg CTAAGTCGCACG CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAActaagtcgcacgAGATCGAGACCCGACGC chr17:66041634-Alternative-A;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative G gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttg GGAGTTGGACCT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAggagttggacctAGATCGAGACCCGACGC chr17:66041634-Alternative-G;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative A gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttg GATTAGTGGAGT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAgattagtggagtAGATCGAGACCCGACGC chr17:66041634-Alternative-A;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Reference T gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttg CGCCTAATGGAA CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaTagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAcgcctaatggaaAGATCGAGACCCGACGC chr17:66041634-Reference-T;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative G gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttg CGGAGGTTGGTT CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaGagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAcggaggttggttAGATCGAGACCCGACGC chr17:66041634-Alternative-G;Patient-6 chr17:66041634-TC DeNovo Patient-6 intronic KPNA2 NA 4.95e-05 0.09 4.08 -2.82 KPNA2 9785 Alternative A gaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttg ACACATAGTAGG CGACGCGGTCTCTCTCTgaactggaatgtagtgttgttttaaaagttgcccgcatgattttgatacaAagaaaaggttgggagctactactgattgtaagatctttggctccagttgAGAGGGAGACGGACGTCTCAATAAacacatagtaggAGATCGAGACCCGACGC chr17:66041634-Alternative-A;Patient-6 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative G gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggac CGGACGCATAAC CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAcggacgcataacAGATCGAGACCCGACGC chr17:68239899-Alternative-G;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative G gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggac CGGCAGATCTAC CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAcggcagatctacAGATCGAGACCCGACGC chr17:68239899-Alternative-G;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative G gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggac AAGATCGATAGG CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAaagatcgataggAGATCGAGACCCGACGC chr17:68239899-Alternative-G;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative G gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggac GGTGGATCTCGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAggtggatctcgtAGATCGAGACCCGACGC chr17:68239899-Alternative-G;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Variant T gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggac GCCGATACTACG CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAgccgatactacgAGATCGAGACCCGACGC chr17:68239899-Variant-T;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative G gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggac CAACGAATACGA CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggGtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAcaacgaatacgaAGATCGAGACCCGACGC chr17:68239899-Alternative-G;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Variant T gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggac GCCGACACTAGA CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAgccgacactagaAGATCGAGACCCGACGC chr17:68239899-Variant-T;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Variant T gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggac ATAGCAGCTGTT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAatagcagctgttAGATCGAGACCCGACGC chr17:68239899-Variant-T;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Variant T gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggac GACCGTTGTACG CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAgaccgttgtacgAGATCGAGACCCGACGC chr17:68239899-Variant-T;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Reference A gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggac GCCGTAGTAGGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAgccgtagtaggtAGATCGAGACCCGACGC chr17:68239899-Reference-A;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative C gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggac AATGTGCTCAGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAaatgtgctcagtAGATCGAGACCCGACGC chr17:68239899-Alternative-C;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Reference A gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggac AGCTCTGTCAAT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAagctctgtcaatAGATCGAGACCCGACGC chr17:68239899-Reference-A;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative C gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggac AATCTCGTACGA CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAaatctcgtacgaAGATCGAGACCCGACGC chr17:68239899-Alternative-C;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Reference A gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggac AGTGACGATAAC CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAagtgacgataacAGATCGAGACCCGACGC chr17:68239899-Reference-A;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Variant T gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggac ACCTACGCCAAC CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggTtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAacctacgccaacAGATCGAGACCCGACGC chr17:68239899-Variant-T;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative C gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggac ACTTCCGAGTGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAacttccgagtgtAGATCGAGACCCGACGC chr17:68239899-Alternative-C;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative C gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggac AGATTCGAGAGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAagattcgagagtAGATCGAGACCCGACGC chr17:68239899-Alternative-C;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Reference A gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggac ATAAGCAACACG CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAataagcaacacgAGATCGAGACCCGACGC chr17:68239899-Reference-A;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Reference A gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggac GGTATCTTCTGT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggAtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAggtatcttctgtAGATCGAGACCCGACGC chr17:68239899-Reference-A;Patient-79 chr17:68239899-AT DeNovo Patient-79 intergenic NA 0.000513 -0.02 2.33 0.51 KCNJ2 74222 Alternative C gtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggac GGCAAGTAACAT CGACGCGGTCTCTCTCTgtcgcagcatctgcagtcatctgaaggcttggctggggccgaagcctgggCtagctcactcacatgctgggaggctggtactggctattggcaagaggacAGAGGGAGACGGACGTCTCAATAAggcaagtaacatAGATCGAGACCCGACGC chr17:68239899-Alternative-C;Patient-79 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Reference G atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta AACAACCGTAGT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAaacaaccgtagtAGATCGAGACCCGACGC chr17:70064540-Reference-G;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Reference G atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GCGCATAAGACG CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAgcgcataagacgAGATCGAGACCCGACGC chr17:70064540-Reference-G;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Reference G atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CATCTGACTGCG CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcatctgactgcgAGATCGAGACCCGACGC chr17:70064540-Reference-G;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Reference G atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGACGGAGTTCT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgacggagttctAGATCGAGACCCGACGC chr17:70064540-Reference-G;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Reference G atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGCATGCATAGT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactGcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgcatgcatagtAGATCGAGACCCGACGC chr17:70064540-Reference-G;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Variant T atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GGTGTATGTGAA CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAggtgtatgtgaaAGATCGAGACCCGACGC chr17:70064540-Variant-T;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative A atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CATCGGTACAGT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcatcggtacagtAGATCGAGACCCGACGC chr17:70064540-Alternative-A;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Variant T atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGCCGACTAGAT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgccgactagatAGATCGAGACCCGACGC chr17:70064540-Variant-T;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative A atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGATCAGCCAAC CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgatcagccaacAGATCGAGACCCGACGC chr17:70064540-Alternative-A;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative C atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGCACTGAACAT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgcactgaacatAGATCGAGACCCGACGC chr17:70064540-Alternative-C;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative C atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CGAACGACGAAC CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAcgaacgacgaacAGATCGAGACCCGACGC chr17:70064540-Alternative-C;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative C atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CTTAGCGATAGT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAActtagcgatagtAGATCGAGACCCGACGC chr17:70064540-Alternative-C;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Variant T atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GCGAAGCAACGA CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAgcgaagcaacgaAGATCGAGACCCGACGC chr17:70064540-Variant-T;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative A atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GACGATTAGGAT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAgacgattaggatAGATCGAGACCCGACGC chr17:70064540-Alternative-A;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative A atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta AAGCACCACAAG CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAaagcaccacaagAGATCGAGACCCGACGC chr17:70064540-Alternative-A;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative C atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta CTGGTCAACGAT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAActggtcaacgatAGATCGAGACCCGACGC chr17:70064540-Alternative-C;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Variant T atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GAGAGCAGGTTC CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAgagagcaggttcAGATCGAGACCCGACGC chr17:70064540-Variant-T;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative A atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GGTGTTATTGAC CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactAcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAggtgttattgacAGATCGAGACCCGACGC chr17:70064540-Alternative-A;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Alternative C atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta GGCTCATAGATT CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactCcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAggctcatagattAGATCGAGACCCGACGC chr17:70064540-Alternative-C;Patient-90 chr17:70064540-GT DeNovo Patient-90 intergenic 0.000128 0.00103 -0.05 1.97 0.89 SOX9 52620 Variant T atcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctcccta ACGAATCCTACG CGACGCGGTCTCTCTCTatcactctgtcacccaggctagagtgcagtggtgcaatctcatgctcactTcaagctccacctcccaggttcatgccattctcctgcttcagcctccctaAGAGGGAGACGGACGTCTCAATAAacgaatcctacgAGATCGAGACCCGACGC chr17:70064540-Variant-T;Patient-90 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative T caggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GCCAACAATGGT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgccaacaatggtAGATCGAGACCCGACGC chr17:70176735-Alternative-T;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Reference A caggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca AGCTCGGCCTTA CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAagctcggccttaAGATCGAGACCCGACGC chr17:70176735-Reference-A;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative T caggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GCGTGAACTGAG CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgcgtgaactgagAGATCGAGACCCGACGC chr17:70176735-Alternative-T;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative C caggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca ATCCGTAGCAAG CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAatccgtagcaagAGATCGAGACCCGACGC chr17:70176735-Alternative-C;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Reference A caggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca AACGGCTCGTGT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAaacggctcgtgtAGATCGAGACCCGACGC chr17:70176735-Reference-A;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative C caggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GGACAGTTGGCA CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAggacagttggcaAGATCGAGACCCGACGC chr17:70176735-Alternative-C;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative T caggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GTTCTATCATGC CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgttctatcatgcAGATCGAGACCCGACGC chr17:70176735-Alternative-T;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative C caggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca ACCGGAGAACGA CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAaccggagaacgaAGATCGAGACCCGACGC chr17:70176735-Alternative-C;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Variant G caggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca AAGTCTCGTGCA CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAaagtctcgtgcaAGATCGAGACCCGACGC chr17:70176735-Variant-G;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative T caggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca ATCGCAGAACAT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAatcgcagaacatAGATCGAGACCCGACGC chr17:70176735-Alternative-T;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative T caggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca ATAGCTGCCAAT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattTgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAatagctgccaatAGATCGAGACCCGACGC chr17:70176735-Alternative-T;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative C caggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GGACCATAAGGT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAggaccataaggtAGATCGAGACCCGACGC chr17:70176735-Alternative-C;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Variant G caggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca CATATACTTGCG CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAcatatacttgcgAGATCGAGACCCGACGC chr17:70176735-Variant-G;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Variant G caggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GCATGTTCGCTA CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgcatgttcgctaAGATCGAGACCCGACGC chr17:70176735-Variant-G;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Reference A caggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GGACATACCAAC CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAggacataccaacAGATCGAGACCCGACGC chr17:70176735-Reference-A;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Variant G caggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GTGATATGTCAC CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgtgatatgtcacAGATCGAGACCCGACGC chr17:70176735-Variant-G;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Reference A caggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GATATCGTGACG CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgatatcgtgacgAGATCGAGACCCGACGC chr17:70176735-Reference-A;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Variant G caggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca CGACTGTACGCT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattGgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAcgactgtacgctAGATCGAGACCCGACGC chr17:70176735-Variant-G;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Alternative C caggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca CTGCGACGGTAT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattCgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAActgcgacggtatAGATCGAGACCCGACGC chr17:70176735-Alternative-C;Patient-19 chr17:70176735-AG DeNovo Patient-19 intergenic NA 0.000513 0.26 6.74 2.64 SOX9 59573 Reference A caggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacaca GTTGTATGTGGT CGACGCGGTCTCTCTCTcaggcactctcaggaaagaacatctggggttctgaaccctccctcagattAgaaggacaattcccccactctgtctccaggaagtcacctctttgacacaAGAGGGAGACGGACGTCTCAATAAgttgtatgtggtAGATCGAGACCCGACGC chr17:70176735-Reference-A;Patient-19 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Reference T ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GGATCCAACAAC CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAggatccaacaacAGATCGAGACCCGACGC chr17:71178945-Reference-T;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Reference T ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CACGTTCGGCTT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAcacgttcggcttAGATCGAGACCCGACGC chr17:71178945-Reference-T;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Variant A ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GACGGAGTTGGT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgacggagttggtAGATCGAGACCCGACGC chr17:71178945-Variant-A;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Variant A ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GATACCTGGATT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgatacctggattAGATCGAGACCCGACGC chr17:71178945-Variant-A;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Reference T ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CGACTGTCCTAC CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAcgactgtcctacAGATCGAGACCCGACGC chr17:71178945-Reference-T;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Variant A ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CGGTAGACTACG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAcggtagactacgAGATCGAGACCCGACGC chr17:71178945-Variant-A;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative G ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt AACGCGGCAGAT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAaacgcggcagatAGATCGAGACCCGACGC chr17:71178945-Alternative-G;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Variant A ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GTGGCGTCTAAG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgtggcgtctaagAGATCGAGACCCGACGC chr17:71178945-Variant-A;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Reference T ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt AGTAGTGGACAT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAagtagtggacatAGATCGAGACCCGACGC chr17:71178945-Reference-T;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative G ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CTAACTCATGCT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAActaactcatgctAGATCGAGACCCGACGC chr17:71178945-Alternative-G;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative C ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GTGTAAGCGTGG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgtgtaagcgtggAGATCGAGACCCGACGC chr17:71178945-Alternative-C;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative G ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt ACCGGTTCTGAC CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAaccggttctgacAGATCGAGACCCGACGC chr17:71178945-Alternative-G;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative C ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt AGGCGATCCTGA CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAaggcgatcctgaAGATCGAGACCCGACGC chr17:71178945-Alternative-C;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative G ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GGATAAGACGCT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAggataagacgctAGATCGAGACCCGACGC chr17:71178945-Alternative-G;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Reference T ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GATATCGCCTGG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaTtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgatatcgcctggAGATCGAGACCCGACGC chr17:71178945-Reference-T;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative C ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CAATAAGACGAC CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAcaataagacgacAGATCGAGACCCGACGC chr17:71178945-Alternative-C;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative G ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GTCATTCGAGCG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaGtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgtcattcgagcgAGATCGAGACCCGACGC chr17:71178945-Alternative-G;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Variant A ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt ACTAACCAACGG CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaAtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAactaaccaacggAGATCGAGACCCGACGC chr17:71178945-Variant-A;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative C ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt GATTGCGATGTT CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAgattgcgatgttAGATCGAGACCCGACGC chr17:71178945-Alternative-C;Patient-21 chr17:71178945-TA Inherited Patient-21 intergenic 3.2e-05 0.000513 -0.01 2.4 -2.28 COG1 10227 Alternative C ccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttcctt CAGGTACACGAA CGACGCGGTCTCTCTCTccatgtgacgcaagatgaaagcaaatcggagtgcagaaaagtaaatgcaaCtagctggctacctgataaggtggcacacgctgcacaaagagtgttccttAGAGGGAGACGGACGTCTCAATAAcaggtacacgaaAGATCGAGACCCGACGC chr17:71178945-Alternative-C;Patient-21 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative C aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg AACAGCGTATGA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAaacagcgtatgaAGATCGAGACCCGACGC chr17:72298201-Alternative-C;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Reference G aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg ACGGTCGTATGC CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAacggtcgtatgcAGATCGAGACCCGACGC chr17:72298201-Reference-G;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative C aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GCACGTACATTA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgcacgtacattaAGATCGAGACCCGACGC chr17:72298201-Alternative-C;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Reference G aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GTAGGTACAGAT CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgtaggtacagatAGATCGAGACCCGACGC chr17:72298201-Reference-G;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Reference G aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg AACTTGCCGGCA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAaacttgccggcaAGATCGAGACCCGACGC chr17:72298201-Reference-G;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Reference G aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg AGCTAATCGCGG CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAagctaatcgcggAGATCGAGACCCGACGC chr17:72298201-Reference-G;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Variant A aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg CAAGCGTGAACA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAcaagcgtgaacaAGATCGAGACCCGACGC chr17:72298201-Variant-A;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative C aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GTGTCGTCAATA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgtgtcgtcaataAGATCGAGACCCGACGC chr17:72298201-Alternative-C;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative T aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg ATCGTCGGAATT CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAatcgtcggaattAGATCGAGACCCGACGC chr17:72298201-Alternative-T;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Reference G aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GCGAAGATTAGT CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaGgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgcgaagattagtAGATCGAGACCCGACGC chr17:72298201-Reference-G;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative T aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg ACGTCCAATTCT CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAacgtccaattctAGATCGAGACCCGACGC chr17:72298201-Alternative-T;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative T aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GTTCAAGCGGCA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgttcaagcggcaAGATCGAGACCCGACGC chr17:72298201-Alternative-T;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Variant A aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg CATCGGAGCATC CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAcatcggagcatcAGATCGAGACCCGACGC chr17:72298201-Variant-A;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative C aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg CTCAAGTCGGCA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAActcaagtcggcaAGATCGAGACCCGACGC chr17:72298201-Alternative-C;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Variant A aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg AAGTTCATACGC CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAaagttcatacgcAGATCGAGACCCGACGC chr17:72298201-Variant-A;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative C aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg GCATAAGCCTGG CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaCgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAgcataagcctggAGATCGAGACCCGACGC chr17:72298201-Alternative-C;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative T aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg ATAGCGACGACG CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAatagcgacgacgAGATCGAGACCCGACGC chr17:72298201-Alternative-T;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Alternative T aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg AGCTTCGTCATA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaTgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAagcttcgtcataAGATCGAGACCCGACGC chr17:72298201-Alternative-T;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Variant A aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg CAAGTAATGCGG CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAcaagtaatgcggAGATCGAGACCCGACGC chr17:72298201-Variant-A;Patient-26 chr17:72298201-GA DeNovo Patient-26 intronic DNAI2 9.1e-05 0.00148 -0.08 1.55 0 KIF19 24149 Variant A aaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaagg ATCTCAACGTGA CGACGCGGTCTCTCTCTaaagaaggaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaAgaaggaaagaaggaaggaaggaaggaaggaaggaaggaaggaaggaaggAGAGGGAGACGGACGTCTCAATAAatctcaacgtgaAGATCGAGACCCGACGC chr17:72298201-Variant-A;Patient-26 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Reference T ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GACGAACTGAAC CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAgacgaactgaacAGATCGAGACCCGACGC chr17:73154404-Reference-T;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative G ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg CTATCGTGAACA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAActatcgtgaacaAGATCGAGACCCGACGC chr17:73154404-Alternative-G;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Reference T ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg AAGTGTTGTCGT CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaagtgttgtcgtAGATCGAGACCCGACGC chr17:73154404-Reference-T;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Reference T ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GGTTATAGGCCG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAggttataggccgAGATCGAGACCCGACGC chr17:73154404-Reference-T;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Reference T ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg ATTATGAGAGCG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAattatgagagcgAGATCGAGACCCGACGC chr17:73154404-Reference-T;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative G ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GTCGCGCATAGT CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAgtcgcgcatagtAGATCGAGACCCGACGC chr17:73154404-Alternative-G;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Variant A ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GCCAGGATACCA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAgccaggataccaAGATCGAGACCCGACGC chr17:73154404-Variant-A;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Variant A ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GTATATGACCAC CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAgtatatgaccacAGATCGAGACCCGACGC chr17:73154404-Variant-A;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative G ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg AGGCTTCGTAAT CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaggcttcgtaatAGATCGAGACCCGACGC chr17:73154404-Alternative-G;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative G ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg AACCAATGCGAA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaaccaatgcgaaAGATCGAGACCCGACGC chr17:73154404-Alternative-G;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Reference T ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GGAACTCATCGA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtTtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAggaactcatcgaAGATCGAGACCCGACGC chr17:73154404-Reference-T;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Variant A ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg CGCTCAAGCAGA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAcgctcaagcagaAGATCGAGACCCGACGC chr17:73154404-Variant-A;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Variant A ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg ACCGTCACGAAG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaccgtcacgaagAGATCGAGACCCGACGC chr17:73154404-Variant-A;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Variant A ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg ACCTTAATGCGG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtAtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaccttaatgcggAGATCGAGACCCGACGC chr17:73154404-Variant-A;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative G ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg ACAACAGCAACA CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtGtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAacaacagcaacaAGATCGAGACCCGACGC chr17:73154404-Alternative-G;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative C ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg ACTTATCGGCGG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAacttatcggcggAGATCGAGACCCGACGC chr17:73154404-Alternative-C;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative C ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg CTCAAGCATAAG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAActcaagcataagAGATCGAGACCCGACGC chr17:73154404-Alternative-C;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative C ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg AACGAGCTGTGG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAaacgagctgtggAGATCGAGACCCGACGC chr17:73154404-Alternative-C;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative C ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GCCAAGTAACTT CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAgccaagtaacttAGATCGAGACCCGACGC chr17:73154404-Alternative-C;Patient-55 chr17:73154404-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.18 0.83 0 SUMO2 24693 Alternative C ctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccagg GGCTATCGAAGG CGACGCGGTCTCTCTCTctccacaggtagagcagccaggaaggctgctggttgtccatttttatggtCtttttttttttttttttttttgaaagagagtcttgctctgttgcccaggAGAGGGAGACGGACGTCTCAATAAggctatcgaaggAGATCGAGACCCGACGC chr17:73154404-Alternative-C;Patient-55 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Reference G ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GTAATTCGTGGT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgtaattcgtggtAGATCGAGACCCGACGC chr17:73332452-Reference-G;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Reference G ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GCCGATATGACC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgccgatatgaccAGATCGAGACCCGACGC chr17:73332452-Reference-G;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Reference G ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GGTCTGACAGCT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAggtctgacagctAGATCGAGACCCGACGC chr17:73332452-Reference-G;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative C ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca ATAGCCATCGAC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAatagccatcgacAGATCGAGACCCGACGC chr17:73332452-Alternative-C;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative C ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca AGCTACCTTGAA CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAagctaccttgaaAGATCGAGACCCGACGC chr17:73332452-Alternative-C;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Reference G ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca ACGTATACGCGC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAacgtatacgcgcAGATCGAGACCCGACGC chr17:73332452-Reference-G;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Reference G ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CGCATAATGCTA CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgGaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAcgcataatgctaAGATCGAGACCCGACGC chr17:73332452-Reference-G;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative T ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GAGTATCTCGCG CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgagtatctcgcgAGATCGAGACCCGACGC chr17:73332452-Alternative-T;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative T ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca AACTTCGGTCAT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAaacttcggtcatAGATCGAGACCCGACGC chr17:73332452-Alternative-T;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative T ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CTTAATCCGAAC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAActtaatccgaacAGATCGAGACCCGACGC chr17:73332452-Alternative-T;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Variant A ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CATTGTCTTACG CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAcattgtcttacgAGATCGAGACCCGACGC chr17:73332452-Variant-A;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative C ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CGGCTTGTCGTT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAcggcttgtcgttAGATCGAGACCCGACGC chr17:73332452-Alternative-C;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Variant A ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CGATTAGAGAGT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAcgattagagagtAGATCGAGACCCGACGC chr17:73332452-Variant-A;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative C ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GTTCTGCGCTGT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgttctgcgctgtAGATCGAGACCCGACGC chr17:73332452-Alternative-C;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative T ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CTCTGAGTACTT CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAActctgagtacttAGATCGAGACCCGACGC chr17:73332452-Alternative-T;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative C ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GAATATACGGAC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgCaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgaatatacggacAGATCGAGACCCGACGC chr17:73332452-Alternative-C;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Alternative T ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca CAGTACCAAGCG CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgTaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAcagtaccaagcgAGATCGAGACCCGACGC chr17:73332452-Alternative-T;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Variant A ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca ATCATACGTCGA CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAatcatacgtcgaAGATCGAGACCCGACGC chr17:73332452-Variant-A;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Variant A ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca GATAATCCGAAC CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAgataatccgaacAGATCGAGACCCGACGC chr17:73332452-Variant-A;Patient-30 chr17:73332452-GA Inherited Patient-30 intronic GRB2 0.000159 4.95e-05 NA NA NA GRB2 69337 Variant A ctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgca ACGTACCTGTGG CGACGCGGTCTCTCTCTctcctgaaatggtgaggtgtgtctacttttactgtatacacttgttcttgAaagacagagagtcagactgacaaagagctgcttgtaacctatttgtgcaAGAGGGAGACGGACGTCTCAATAAacgtacctgtggAGATCGAGACCCGACGC chr17:73332452-Variant-A;Patient-30 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Reference G agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GGTCGAGTCCAT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAggtcgagtccatAGATCGAGACCCGACGC chr17:73400518-Reference-G;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Reference G agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg CAGACACCACGT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAcagacaccacgtAGATCGAGACCCGACGC chr17:73400518-Reference-G;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Variant T agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg ACTCTGGTTGTT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAactctggttgttAGATCGAGACCCGACGC chr17:73400518-Variant-T;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Reference G agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGATAGCGATGG CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAagatagcgatggAGATCGAGACCCGACGC chr17:73400518-Reference-G;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Reference G agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg ACCTTGGAATCA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAaccttggaatcaAGATCGAGACCCGACGC chr17:73400518-Reference-G;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Variant T agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGTCATCAATCG CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAagtcatcaatcgAGATCGAGACCCGACGC chr17:73400518-Variant-T;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Reference G agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg CGTGTCCGTGAA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacGgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAcgtgtccgtgaaAGATCGAGACCCGACGC chr17:73400518-Reference-G;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Variant T agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GTCGAACTTCAA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAgtcgaacttcaaAGATCGAGACCCGACGC chr17:73400518-Variant-T;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative A agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GCAACTAATCGT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAgcaactaatcgtAGATCGAGACCCGACGC chr17:73400518-Alternative-A;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative A agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGGTTACGCTAA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAaggttacgctaaAGATCGAGACCCGACGC chr17:73400518-Alternative-A;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Variant T agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GTACAGTTATGC CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAgtacagttatgcAGATCGAGACCCGACGC chr17:73400518-Variant-T;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative A agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg ACAACGATTCAC CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAacaacgattcacAGATCGAGACCCGACGC chr17:73400518-Alternative-A;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Variant T agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg CAGTCGCGCAAT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacTgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAcagtcgcgcaatAGATCGAGACCCGACGC chr17:73400518-Variant-T;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative A agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg ATCAAGCATCCA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAatcaagcatccaAGATCGAGACCCGACGC chr17:73400518-Alternative-A;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative A agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg CTTGACCAATGA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacAgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAActtgaccaatgaAGATCGAGACCCGACGC chr17:73400518-Alternative-A;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative C agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGACTGGCGTGT CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAagactggcgtgtAGATCGAGACCCGACGC chr17:73400518-Alternative-C;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative C agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGGTTATACCAC CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAaggttataccacAGATCGAGACCCGACGC chr17:73400518-Alternative-C;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative C agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GGACGTATGACG CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAggacgtatgacgAGATCGAGACCCGACGC chr17:73400518-Alternative-C;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative C agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg GAGTCAACATGA CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAgagtcaacatgaAGATCGAGACCCGACGC chr17:73400518-Alternative-C;Patient-75 chr17:73400518-GT DeNovo Patient-75 intronic GRB2 NA 0.00016 0.12 4.58 -1.99 GRB2 1271 Alternative C agtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcg AGTAGAAGGTTC CGACGCGGTCTCTCTCTagtaaaggaacgaaagcaaggaaagagagtctcttcccgaggaaaaagacCgaatcttgaaatgagagaaaacgaacagcacgaaagggaagaaacctcgAGAGGGAGACGGACGTCTCAATAAagtagaaggttcAGATCGAGACCCGACGC chr17:73400518-Alternative-C;Patient-75 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative C aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ACTAGCGATCTT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAactagcgatcttAGATCGAGACCCGACGC chr17:73581917-Alternative-C;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative C aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GAGGTAGCAGTC CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgaggtagcagtcAGATCGAGACCCGACGC chr17:73581917-Alternative-C;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative T aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GGTTCGTCGAAC CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAggttcgtcgaacAGATCGAGACCCGACGC chr17:73581917-Alternative-T;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Reference G aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta AGAGTAGTCTTC CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAagagtagtcttcAGATCGAGACCCGACGC chr17:73581917-Reference-G;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Reference G aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ACTTCCGCGTTC CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAacttccgcgttcAGATCGAGACCCGACGC chr17:73581917-Reference-G;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative T aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ACTACAAGATGG CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAactacaagatggAGATCGAGACCCGACGC chr17:73581917-Alternative-T;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Reference G aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta CGGTCCAAGATT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAcggtccaagattAGATCGAGACCCGACGC chr17:73581917-Reference-G;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Reference G aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GTTATCAGGTCA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgttatcaggtcaAGATCGAGACCCGACGC chr17:73581917-Reference-G;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative T aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta AGCTGACGATAA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAagctgacgataaAGATCGAGACCCGACGC chr17:73581917-Alternative-T;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative C aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ATTGGACCTCAA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAattggacctcaaAGATCGAGACCCGACGC chr17:73581917-Alternative-C;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Reference G aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ACCGTTAAGTGT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcGagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAaccgttaagtgtAGATCGAGACCCGACGC chr17:73581917-Reference-G;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative T aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GTGTCTTAGCGG CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgtgtcttagcggAGATCGAGACCCGACGC chr17:73581917-Alternative-T;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative C aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GGATCAACCTAA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAggatcaacctaaAGATCGAGACCCGACGC chr17:73581917-Alternative-C;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative T aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta CAGATGCGACGA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcTagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAcagatgcgacgaAGATCGAGACCCGACGC chr17:73581917-Alternative-T;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Variant A aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GTTGGATACGTT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgttggatacgttAGATCGAGACCCGACGC chr17:73581917-Variant-A;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Variant A aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GTATCGTATGGT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgtatcgtatggtAGATCGAGACCCGACGC chr17:73581917-Variant-A;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Alternative C aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta CGCGTAGTTCGT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcCagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAcgcgtagttcgtAGATCGAGACCCGACGC chr17:73581917-Alternative-C;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Variant A aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GATGGAGTGTTA CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgatggagtgttaAGATCGAGACCCGACGC chr17:73581917-Variant-A;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Variant A aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta ATCCTATGGTTC CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAatcctatggttcAGATCGAGACCCGACGC chr17:73581917-Variant-A;Patient-39 chr17:73581917-GA DeNovo Patient-39 intergenic 3.2e-05 0.000513 0.06 3.55 0.05 RECQL5 81351 Variant A aatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctattta GCCAATGTTCTT CGACGCGGTCTCTCTCTaatgagaaaaagacagtttgagagagaaagtgggaccaggggaccatcgcAagtgtggaggctgtgaaggcccctgggcactgggagcccaggctatttaAGAGGGAGACGGACGTCTCAATAAgccaatgttcttAGATCGAGACCCGACGC chr17:73581917-Variant-A;Patient-39 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Variant T taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat ATTGCGCCACGT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAattgcgccacgtAGATCGAGACCCGACGC chr17:73663290-Variant-T;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative G taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat AAGTCATCAAGG CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAaagtcatcaaggAGATCGAGACCCGACGC chr17:73663290-Alternative-G;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative A taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CGCTTGAGTCGA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAcgcttgagtcgaAGATCGAGACCCGACGC chr17:73663290-Alternative-A;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Variant T taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CTATCACGTCGC CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAActatcacgtcgcAGATCGAGACCCGACGC chr17:73663290-Variant-T;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative A taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CGTTGTCGTTAT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAcgttgtcgttatAGATCGAGACCCGACGC chr17:73663290-Alternative-A;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Variant T taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CACGTTAGCAGA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAcacgttagcagaAGATCGAGACCCGACGC chr17:73663290-Variant-T;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Variant T taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat ATCATGGCCGCA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAatcatggccgcaAGATCGAGACCCGACGC chr17:73663290-Variant-T;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative A taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat GCAGTCAAGTTA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAgcagtcaagttaAGATCGAGACCCGACGC chr17:73663290-Alternative-A;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Reference C taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CTGTTAAGTCGA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAActgttaagtcgaAGATCGAGACCCGACGC chr17:73663290-Reference-C;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Reference C taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CTTACACCTCAA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAActtacacctcaaAGATCGAGACCCGACGC chr17:73663290-Reference-C;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative G taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CGCCGACGTAAT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAcgccgacgtaatAGATCGAGACCCGACGC chr17:73663290-Alternative-G;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Reference C taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CAATACGCGAAT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAcaatacgcgaatAGATCGAGACCCGACGC chr17:73663290-Reference-C;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative A taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat AGCTAAGCCTGG CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAagctaagcctggAGATCGAGACCCGACGC chr17:73663290-Alternative-A;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative A taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat GATAGCGAAGTT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgAgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAgatagcgaagttAGATCGAGACCCGACGC chr17:73663290-Alternative-A;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative G taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat GTAATCGGTAAG CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAgtaatcggtaagAGATCGAGACCCGACGC chr17:73663290-Alternative-G;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative G taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat ACGAGGTGATCG CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAacgaggtgatcgAGATCGAGACCCGACGC chr17:73663290-Alternative-G;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Reference C taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat GTGTAGTGGATA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAgtgtagtggataAGATCGAGACCCGACGC chr17:73663290-Reference-C;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Variant T taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat ATTCCACCGAAG CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgTgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAattccaccgaagAGATCGAGACCCGACGC chr17:73663290-Variant-T;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Alternative G taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat GAGATGACCAGA CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgGgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAAgagatgaccagaAGATCGAGACCCGACGC chr17:73663290-Alternative-G;Patient-69 chr17:73663290-CT DeNovo Patient-69 intergenic NA 0.000148471 0.46 9.05 -3.34 SAP30BP 108 Reference C taggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgat CTGCGTGTCTGT CGACGCGGTCTCTCTCTtaggcagaacccacgcaatcttatatccgtcgcgcagtgatgacgtagcgCgagcgctggcatgagggcggagccaggcgcaggaaactgccgttttgatAGAGGGAGACGGACGTCTCAATAActgcgtgtctgtAGATCGAGACCCGACGC chr17:73663290-Reference-C;Patient-69 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Reference C tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ACCGAATTGCGG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAaccgaattgcggAGATCGAGACCCGACGC chr17:73717581-Reference-C;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Reference C tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CGTACTACCGTC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAcgtactaccgtcAGATCGAGACCCGACGC chr17:73717581-Reference-C;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative G tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ATCCTATGTACG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAatcctatgtacgAGATCGAGACCCGACGC chr17:73717581-Alternative-G;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative T tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg GGTCGCGTATAC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAggtcgcgtatacAGATCGAGACCCGACGC chr17:73717581-Alternative-T;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative G tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg GTTGTTCCTAAG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAgttgttcctaagAGATCGAGACCCGACGC chr17:73717581-Alternative-G;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Variant A tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CTAGCGGTGTTC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAActagcggtgttcAGATCGAGACCCGACGC chr17:73717581-Variant-A;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative T tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ACACGTATCCGC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAacacgtatccgcAGATCGAGACCCGACGC chr17:73717581-Alternative-T;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative G tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg GGCCATTCTGAG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAggccattctgagAGATCGAGACCCGACGC chr17:73717581-Alternative-G;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Reference C tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CATAATAGCGGT CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAcataatagcggtAGATCGAGACCCGACGC chr17:73717581-Reference-C;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Variant A tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ACACCAACGTAC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAacaccaacgtacAGATCGAGACCCGACGC chr17:73717581-Variant-A;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative G tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ACCTGAGGCGAT CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAacctgaggcgatAGATCGAGACCCGACGC chr17:73717581-Alternative-G;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Variant A tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CTTGATACTACG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAActtgatactacgAGATCGAGACCCGACGC chr17:73717581-Variant-A;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Reference C tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ATCATGCGGTCC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAatcatgcggtccAGATCGAGACCCGACGC chr17:73717581-Reference-C;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative T tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg GGCAGTTCGTCA CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAggcagttcgtcaAGATCGAGACCCGACGC chr17:73717581-Alternative-T;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative T tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg GGTCTTGGCACA CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAggtcttggcacaAGATCGAGACCCGACGC chr17:73717581-Alternative-T;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative G tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg AATGTTGCGTGT CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccGgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAaatgttgcgtgtAGATCGAGACCCGACGC chr17:73717581-Alternative-G;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Variant A tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CGACTAAGGTAC CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAcgactaaggtacAGATCGAGACCCGACGC chr17:73717581-Variant-A;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Alternative T tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg AGGCTAATGGAT CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccTgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAaggctaatggatAGATCGAGACCCGACGC chr17:73717581-Alternative-T;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Variant A tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg ACCTTCCAATGT CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccAgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAaccttccaatgtAGATCGAGACCCGACGC chr17:73717581-Variant-A;Patient-65 chr17:73717581-CA Inherited Patient-65 5 prime UTR ITGB4 3.3e-05 0.000100746 0.65 10.72 1.78 ITGB4 64 Reference C tccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcg CGTCGGATAAGG CGACGCGGTCTCTCTCTtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgccCgcgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgAGAGGGAGACGGACGTCTCAATAAcgtcggataaggAGATCGAGACCCGACGC chr17:73717581-Reference-C;Patient-65 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Reference G cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc AACTTAGGCCTA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAaacttaggcctaAGATCGAGACCCGACGC chr17:73775830-Reference-G;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative T cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GACGACACACAT CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgacgacacacatAGATCGAGACCCGACGC chr17:73775830-Alternative-T;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative T cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GAGCTGTGGACA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgagctgtggacaAGATCGAGACCCGACGC chr17:73775830-Alternative-T;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative T cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GTTCGCCATTCG CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgttcgccattcgAGATCGAGACCCGACGC chr17:73775830-Alternative-T;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative T cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc ACGGCGGTCTAA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAacggcggtctaaAGATCGAGACCCGACGC chr17:73775830-Alternative-T;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Reference G cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CACACGGAATCG CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAcacacggaatcgAGATCGAGACCCGACGC chr17:73775830-Reference-G;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative A cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc AGTACTCCTAGA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAagtactcctagaAGATCGAGACCCGACGC chr17:73775830-Alternative-A;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative A cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GGTAACATCGAT CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAggtaacatcgatAGATCGAGACCCGACGC chr17:73775830-Alternative-A;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative A cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CTGTGTCTCGAC CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAActgtgtctcgacAGATCGAGACCCGACGC chr17:73775830-Alternative-A;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative A cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CGCCATCAACCA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAcgccatcaaccaAGATCGAGACCCGACGC chr17:73775830-Alternative-A;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Variant C cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GGTTGATTCTGA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAggttgattctgaAGATCGAGACCCGACGC chr17:73775830-Variant-C;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative T cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CACAACACAACC CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccTcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAcacaacacaaccAGATCGAGACCCGACGC chr17:73775830-Alternative-T;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Reference G cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GCGTCGGTACTA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgcgtcggtactaAGATCGAGACCCGACGC chr17:73775830-Reference-G;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Reference G cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc AGACGACGTATA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAagacgacgtataAGATCGAGACCCGACGC chr17:73775830-Reference-G;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Reference G cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CGTCCGAAGAGT CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccGcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAcgtccgaagagtAGATCGAGACCCGACGC chr17:73775830-Reference-G;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Alternative A cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GGACCTATACGA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccAcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAggacctatacgaAGATCGAGACCCGACGC chr17:73775830-Alternative-A;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Variant C cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GTCGGAATTGTT CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgtcggaattgttAGATCGAGACCCGACGC chr17:73775830-Variant-C;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Variant C cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc GCCAATCGATTA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAgccaatcgattaAGATCGAGACCCGACGC chr17:73775830-Variant-C;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Variant C cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc CATAGTGCTACA CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAcatagtgctacaAGATCGAGACCCGACGC chr17:73775830-Variant-C;Patient-87 chr17:73775830-GC DeNovo Patient-87 5 prime UTR H3F3B 9.6e-05 0.00016 0.41 8.52 -0.59 H3F3B 29 Variant C cttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctc ACAACCAACGGC CGACGCGGTCTCTCTCTcttccgctgcccgaggaagagccgcagtcgacgagcgaaaaaccagcaccCcccaacgaacgaccaaaccgctctgcgctccaagcccccgcgtcgcctcAGAGGGAGACGGACGTCTCAATAAacaaccaacggcAGATCGAGACCCGACGC chr17:73775830-Variant-C;Patient-87 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Reference G cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcagga CACAACCGACTT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAcacaaccgacttAGATCGAGACCCGACGC chr17:74111478-Reference-G;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative A cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcagga GCCAATCGATGC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgccaatcgatgcAGATCGAGACCCGACGC chr17:74111478-Alternative-A;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative T cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcagga AGCCGATATGAA CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAagccgatatgaaAGATCGAGACCCGACGC chr17:74111478-Alternative-T;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative A cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcagga AGCTAGCCTATC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAagctagcctatcAGATCGAGACCCGACGC chr17:74111478-Alternative-A;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Variant C cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcagga CTAATTGCAGGT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAActaattgcaggtAGATCGAGACCCGACGC chr17:74111478-Variant-C;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Reference G cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcagga GCACGTTCAGAT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgcacgttcagatAGATCGAGACCCGACGC chr17:74111478-Reference-G;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative T cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcagga AGTAAGCGATAC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAagtaagcgatacAGATCGAGACCCGACGC chr17:74111478-Alternative-T;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Reference G cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcagga ACAACTAGCTGT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAacaactagctgtAGATCGAGACCCGACGC chr17:74111478-Reference-G;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative A cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcagga CGAGATAATGCA CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAcgagataatgcaAGATCGAGACCCGACGC chr17:74111478-Alternative-A;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Reference G cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcagga ATAAGCGTACAC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAataagcgtacacAGATCGAGACCCGACGC chr17:74111478-Reference-G;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative T cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcagga GAATCTCACGAG CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgaatctcacgagAGATCGAGACCCGACGC chr17:74111478-Alternative-T;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative A cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcagga CGAATGTCCATA CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAcgaatgtccataAGATCGAGACCCGACGC chr17:74111478-Alternative-A;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Variant C cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcagga GCGAACGCTAAC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgcgaacgctaacAGATCGAGACCCGACGC chr17:74111478-Variant-C;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Reference G cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcagga GCAGGTGGTAGT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccGgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgcaggtggtagtAGATCGAGACCCGACGC chr17:74111478-Reference-G;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative T cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcagga AATGAAGCGGAA CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAaatgaagcggaaAGATCGAGACCCGACGC chr17:74111478-Alternative-T;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative A cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcagga GTAGAAGCGGAC CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccAgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgtagaagcggacAGATCGAGACCCGACGC chr17:74111478-Alternative-A;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Alternative T cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcagga GTAGGTGGATTA CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccTgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAgtaggtggattaAGATCGAGACCCGACGC chr17:74111478-Alternative-T;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Variant C cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcagga CTAATATCGCGT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAActaatatcgcgtAGATCGAGACCCGACGC chr17:74111478-Variant-C;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Variant C cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcagga AAGCATCGCACG CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAaagcatcgcacgAGATCGAGACCCGACGC chr17:74111478-Variant-C;Patient-6 chr17:74111478-GC DeNovo Patient-6 intergenic NA 0.000513 -0.16 0.91 0 FOXJ1 25901 Variant C cgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcagga AGCAAGGCGGAT CGACGCGGTCTCTCTCTcgcctcagcctcctaaagctctggggttacaggcataagccaccacttccCgccttgctagttcttaataatagtggaaactgagggacagggagcaggaAGAGGGAGACGGACGTCTCAATAAagcaaggcggatAGATCGAGACCCGACGC chr17:74111478-Variant-C;Patient-6 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative A ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcg AGTCTCGCAACG CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAagtctcgcaacgAGATCGAGACCCGACGC chr17:74515821-Alternative-A;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative C ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg CATCGGCACCTA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAcatcggcacctaAGATCGAGACCCGACGC chr17:74515821-Alternative-C;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Reference T ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GTGTTGCGGTTC CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgtgttgcggttcAGATCGAGACCCGACGC chr17:74515821-Reference-T;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Reference T ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GGCTGTATTGCG CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAggctgtattgcgAGATCGAGACCCGACGC chr17:74515821-Reference-T;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative C ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg ACCGCCGTACTT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAaccgccgtacttAGATCGAGACCCGACGC chr17:74515821-Alternative-C;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative A ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GTCTAGTCATGA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgtctagtcatgaAGATCGAGACCCGACGC chr17:74515821-Alternative-A;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative C ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg ACACAACAAGGT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAacacaacaaggtAGATCGAGACCCGACGC chr17:74515821-Alternative-C;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative C ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GATAATCTGCAC CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgataatctgcacAGATCGAGACCCGACGC chr17:74515821-Alternative-C;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative A ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcg CAACTCATAGCA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAcaactcatagcaAGATCGAGACCCGACGC chr17:74515821-Alternative-A;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative A ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GTAATCCGGCGT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgtaatccggcgtAGATCGAGACCCGACGC chr17:74515821-Alternative-A;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative C ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg AAGGCAGTTACA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcCctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAaaggcagttacaAGATCGAGACCCGACGC chr17:74515821-Alternative-C;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Alternative A ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GATGTTCGACTA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcActttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgatgttcgactaAGATCGAGACCCGACGC chr17:74515821-Alternative-A;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Reference T ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GTGCGATCAGCT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgtgcgatcagctAGATCGAGACCCGACGC chr17:74515821-Reference-T;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Reference T ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GGTGAACGGCAT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAggtgaacggcatAGATCGAGACCCGACGC chr17:74515821-Reference-T;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Variant G ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GATGATCGGATT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgatgatcggattAGATCGAGACCCGACGC chr17:74515821-Variant-G;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Variant G ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GATGCTAGGACG CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgatgctaggacgAGATCGAGACCCGACGC chr17:74515821-Variant-G;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Variant G ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GCGTAAGTTACA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgcgtaagttacaAGATCGAGACCCGACGC chr17:74515821-Variant-G;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Variant G ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg CTCGGTTCAATC CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAActcggttcaatcAGATCGAGACCCGACGC chr17:74515821-Variant-G;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Variant G ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg GTATACACGGTT CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcGctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAgtatacacggttAGATCGAGACCCGACGC chr17:74515821-Variant-G;Patient-33 chr17:74515821-TG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA AANAT 66387 Reference T ttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcg CGCTGTGAATCA CGACGCGGTCTCTCTCTttgccaagttaaacaggccagaagccctggagtccccctcaactgtcctcTctttcacccctcacatcccatccatcagtaaatcacattaaacggggcgAGAGGGAGACGGACGTCTCAATAAcgctgtgaatcaAGATCGAGACCCGACGC chr17:74515821-Reference-T;Patient-33 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Variant C aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac ATTGGTGCGAGA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAattggtgcgagaAGATCGAGACCCGACGC chr17:74616684-Variant-C;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative A aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GGTATCACTTGA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAggtatcacttgaAGATCGAGACCCGACGC chr17:74616684-Alternative-A;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Variant C aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GTGCTTCTCGAC CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgtgcttctcgacAGATCGAGACCCGACGC chr17:74616684-Variant-C;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Variant C aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GATGGTCAGTTA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgatggtcagttaAGATCGAGACCCGACGC chr17:74616684-Variant-C;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Variant C aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac ACTCCGGAGTCT CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAactccggagtctAGATCGAGACCCGACGC chr17:74616684-Variant-C;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Variant C aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CAAGCAGCGCAA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaCtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAcaagcagcgcaaAGATCGAGACCCGACGC chr17:74616684-Variant-C;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative A aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac AACCATTAGTCG CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAaaccattagtcgAGATCGAGACCCGACGC chr17:74616684-Alternative-A;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative A aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CGTACGAAGCCA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAcgtacgaagccaAGATCGAGACCCGACGC chr17:74616684-Alternative-A;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Reference G aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac AGGCGATATCGG CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAaggcgatatcggAGATCGAGACCCGACGC chr17:74616684-Reference-G;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Reference G aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GTACTATCCTAC CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgtactatcctacAGATCGAGACCCGACGC chr17:74616684-Reference-G;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative A aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac ACTCTTGATTGC CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAactcttgattgcAGATCGAGACCCGACGC chr17:74616684-Alternative-A;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Reference G aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CTGTGCATCTAA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAActgtgcatctaaAGATCGAGACCCGACGC chr17:74616684-Reference-G;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative T aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CGTCTAGAAGCG CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAcgtctagaagcgAGATCGAGACCCGACGC chr17:74616684-Alternative-T;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Reference G aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GTTAAGGCCAAT CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgttaaggccaatAGATCGAGACCCGACGC chr17:74616684-Reference-G;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative T aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac AAGGACGAACCG CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAaaggacgaaccgAGATCGAGACCCGACGC chr17:74616684-Alternative-T;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative T aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GACCGACAGCTA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgaccgacagctaAGATCGAGACCCGACGC chr17:74616684-Alternative-T;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative T aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac AAGCGCCTACCA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAaagcgcctaccaAGATCGAGACCCGACGC chr17:74616684-Alternative-T;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative A aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CTGAATCACGAA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaAtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAActgaatcacgaaAGATCGAGACCCGACGC chr17:74616684-Alternative-A;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Alternative T aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac GTTGGACGGAAC CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaTtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAgttggacggaacAGATCGAGACCCGACGC chr17:74616684-Alternative-T;Patient-105 chr17:74616684-GC DeNovo Patient-105 intergenic 3.4e-05 0.002843602 0.01 2.78 0 ST6GALNAC1 23209 Reference G aggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcac CAATGGTGGAGA CGACGCGGTCTCTCTCTaggttttggtaaatcttttctttgtgttccttttttttttttgagatgaaGtcttgctctgtcacccaggctgaaatgcagtggcacgatcttggctcacAGAGGGAGACGGACGTCTCAATAAcaatggtggagaAGATCGAGACCCGACGC chr17:74616684-Reference-G;Patient-105 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative A tttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GCGTTCGTGCAT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgcgttcgtgcatAGATCGAGACCCGACGC chr17:74801130-Alternative-A;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative A tttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt ACGCTGACAATT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAacgctgacaattAGATCGAGACCCGACGC chr17:74801130-Alternative-A;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative A tttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CTAGATACTCGT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAActagatactcgtAGATCGAGACCCGACGC chr17:74801130-Alternative-A;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Reference C tttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTCGAACCTATA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgtcgaacctataAGATCGAGACCCGACGC chr17:74801130-Reference-C;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative A tttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTCATGTGAGAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgtcatgtgagaaAGATCGAGACCCGACGC chr17:74801130-Alternative-A;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative G tttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CTGGTGCGAATC CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAActggtgcgaatcAGATCGAGACCCGACGC chr17:74801130-Alternative-G;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative A tttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CACGGAAGACCT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgAccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAcacggaagacctAGATCGAGACCCGACGC chr17:74801130-Alternative-A;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Reference C tttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTTGATCTCGTT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgttgatctcgttAGATCGAGACCCGACGC chr17:74801130-Reference-C;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative G tttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CGCAAGTTGGAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAcgcaagttggaaAGATCGAGACCCGACGC chr17:74801130-Alternative-G;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Reference C tttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTACGTGGTCGT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgtacgtggtcgtAGATCGAGACCCGACGC chr17:74801130-Reference-C;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative G tttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CATGTCTAACGA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAcatgtctaacgaAGATCGAGACCCGACGC chr17:74801130-Alternative-G;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Reference C tttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTTATACGCGAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgttatacgcgaaAGATCGAGACCCGACGC chr17:74801130-Reference-C;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Variant T tttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt ACTGCGACGCTT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAactgcgacgcttAGATCGAGACCCGACGC chr17:74801130-Variant-T;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Variant T tttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt GTGCGCAGTTGT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAgtgcgcagttgtAGATCGAGACCCGACGC chr17:74801130-Variant-T;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Variant T tttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt AAGGAAGACGAT CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAaaggaagacgatAGATCGAGACCCGACGC chr17:74801130-Variant-T;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Variant T tttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt ACTTAGGTATGC CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAacttaggtatgcAGATCGAGACCCGACGC chr17:74801130-Variant-T;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative G tttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CGAGTTAAGACA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAcgagttaagacaAGATCGAGACCCGACGC chr17:74801130-Alternative-G;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Reference C tttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt AACTCATGCGAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgCccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAaactcatgcgaaAGATCGAGACCCGACGC chr17:74801130-Reference-C;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Variant T tttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt CGTAAGCGCCAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgTccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAcgtaagcgccaaAGATCGAGACCCGACGC chr17:74801130-Variant-T;Patient-77 chr17:74801130-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA MGAT5B 63667 Alternative G tttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccactt AACGTAGGCTAA CGACGCGGTCTCTCTCTtttttctctttttttttttttttttttgagatagagtttcgttcttgttgGccaggctggagtgcaatggtgcgatctcagctcactgcagcttccacttAGAGGGAGACGGACGTCTCAATAAaacgtaggctaaAGATCGAGACCCGACGC chr17:74801130-Alternative-G;Patient-77 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Variant C ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GCGATATAGCTA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgcgatatagctaAGATCGAGACCCGACGC chr17:74935056-Variant-C;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative G ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GATGCCTAATGA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgatgcctaatgaAGATCGAGACCCGACGC chr17:74935056-Alternative-G;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Variant C ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc CTTGCTCATTGA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAActtgctcattgaAGATCGAGACCCGACGC chr17:74935056-Variant-C;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative G ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc AGCATTCGGTCG CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAagcattcggtcgAGATCGAGACCCGACGC chr17:74935056-Alternative-G;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative G ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GCGTAGATTGCG CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgcgtagattgcgAGATCGAGACCCGACGC chr17:74935056-Alternative-G;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Variant C ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc ATAGACTGACCT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAatagactgacctAGATCGAGACCCGACGC chr17:74935056-Variant-C;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Variant C ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc ACTCACGACGGT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAactcacgacggtAGATCGAGACCCGACGC chr17:74935056-Variant-C;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative G ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc CATTATTCGCAC CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAcattattcgcacAGATCGAGACCCGACGC chr17:74935056-Alternative-G;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative G ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc AACGCCACATTA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccGggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAaacgccacattaAGATCGAGACCCGACGC chr17:74935056-Alternative-G;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Reference T ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GGATACTGGATA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAggatactggataAGATCGAGACCCGACGC chr17:74935056-Reference-T;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Reference T ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc AGGTGATACCTT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAaggtgataccttAGATCGAGACCCGACGC chr17:74935056-Reference-T;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative A ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GTCGATAGCTTA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgtcgatagcttaAGATCGAGACCCGACGC chr17:74935056-Alternative-A;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Reference T ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc CGCTCCTTGCTA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAcgctccttgctaAGATCGAGACCCGACGC chr17:74935056-Reference-T;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative A ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GCGTAGAGGAGT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgcgtagaggagtAGATCGAGACCCGACGC chr17:74935056-Alternative-A;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Reference T ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GCATGAATCGGC CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgcatgaatcggcAGATCGAGACCCGACGC chr17:74935056-Reference-T;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative A ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc AGTGACCGCTGA CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAagtgaccgctgaAGATCGAGACCCGACGC chr17:74935056-Alternative-A;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative A ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc AGTCTACACGGC CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAagtctacacggcAGATCGAGACCCGACGC chr17:74935056-Alternative-A;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Reference T ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc ACAGCGTGACAT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccTggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAacagcgtgacatAGATCGAGACCCGACGC chr17:74935056-Reference-T;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Alternative A ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc CATCATGGCGCT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccAggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAcatcatggcgctAGATCGAGACCCGACGC chr17:74935056-Alternative-A;Patient-66 chr17:74935056-TC DeNovo Patient-66 intronic MGAT5B NA 4.95e-05 0.1 4.26 0.21 MGAT5B 70257 Variant C ccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatc GATCGGTGGCTT CGACGCGGTCTCTCTCTccacctcggcctctcaaagtgctgggattacagatgtgagccactgcaccCggccccaggccctctcttgatctcaccatagcttgtttcccaaggcatcAGAGGGAGACGGACGTCTCAATAAgatcggtggcttAGATCGAGACCCGACGC chr17:74935056-Variant-C;Patient-66 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative C cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatat GCGTGGAAGTAT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgcgtggaagtatAGATCGAGACCCGACGC chr17:75928330-Alternative-C;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative C cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatat AGGTACCGTCGT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaggtaccgtcgtAGATCGAGACCCGACGC chr17:75928330-Alternative-C;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative C cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatat AATAGTCTCGCA CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaatagtctcgcaAGATCGAGACCCGACGC chr17:75928330-Alternative-C;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Reference G cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatat GCCAATAGATAC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgccaatagatacAGATCGAGACCCGACGC chr17:75928330-Reference-G;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative C cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatat AATGCGATCGCG CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaatgcgatcgcgAGATCGAGACCCGACGC chr17:75928330-Alternative-C;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Reference G cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatat ACGATCACAACC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAacgatcacaaccAGATCGAGACCCGACGC chr17:75928330-Reference-G;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative T cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatat ACTATGCGTGAT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAactatgcgtgatAGATCGAGACCCGACGC chr17:75928330-Alternative-T;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative C cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatat ATCGATCGGTAC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccCgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAatcgatcggtacAGATCGAGACCCGACGC chr17:75928330-Alternative-C;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Reference G cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatat AGATAGGATAGG CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAagataggataggAGATCGAGACCCGACGC chr17:75928330-Reference-G;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Reference G cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatat CGTGACCGAGAA CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAcgtgaccgagaaAGATCGAGACCCGACGC chr17:75928330-Reference-G;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative T cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatat AGTCGAAGTCAA CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAagtcgaagtcaaAGATCGAGACCCGACGC chr17:75928330-Alternative-T;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Variant A cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatat AACGCGTTGCGT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaacgcgttgcgtAGATCGAGACCCGACGC chr17:75928330-Variant-A;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Reference G cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatat GCAAGTATCCAA CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccGgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgcaagtatccaaAGATCGAGACCCGACGC chr17:75928330-Reference-G;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative T cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatat CTCGGCTTACCT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAActcggcttacctAGATCGAGACCCGACGC chr17:75928330-Alternative-T;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Variant A cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatat GTTCGCGTAGTC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgttcgcgtagtcAGATCGAGACCCGACGC chr17:75928330-Variant-A;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative T cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatat GGACAGTACACG CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAggacagtacacgAGATCGAGACCCGACGC chr17:75928330-Alternative-T;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Alternative T cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatat GCAATGTAGGCG CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccTgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgcaatgtaggcgAGATCGAGACCCGACGC chr17:75928330-Alternative-T;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Variant A cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatat AACAGGTCGTCC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaacaggtcgtccAGATCGAGACCCGACGC chr17:75928330-Variant-A;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Variant A cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatat GATAACAGGTAC CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgataacaggtacAGATCGAGACCCGACGC chr17:75928330-Variant-A;Patient-32 chr17:75928330-GA DeNovo Patient-32 intergenic 0.000582 0.000513 -0.11 1.29 0.25 TNRC6C 71987 Variant A cacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatat GCGCTCGATCAT CGACGCGGTCTCTCTCTcacatcagtctcccaaagtgctgggattacaggcgtgagccaccgtgcccAgcctaggttttatatatatatatatatatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgcgctcgatcatAGATCGAGACCCGACGC chr17:75928330-Variant-A;Patient-32 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative T actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagt ATCTGCGCATGC CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAatctgcgcatgcAGATCGAGACCCGACGC chr17:76023617-Alternative-T;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative T actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagt CAGTATGCTAAC CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAcagtatgctaacAGATCGAGACCCGACGC chr17:76023617-Alternative-T;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative G actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagt AGTTCGTTCTGT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAagttcgttctgtAGATCGAGACCCGACGC chr17:76023617-Alternative-G;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative G actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagt GCCGCTTCTAAC CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAgccgcttctaacAGATCGAGACCCGACGC chr17:76023617-Alternative-G;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative T actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagt GATAGAACGGAA CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAgatagaacggaaAGATCGAGACCCGACGC chr17:76023617-Alternative-T;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Variant A actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagt ACCGAAGCTACC CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaccgaagctaccAGATCGAGACCCGACGC chr17:76023617-Variant-A;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative T actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagt GTCAACTGTCCT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAgtcaactgtcctAGATCGAGACCCGACGC chr17:76023617-Alternative-T;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Reference C actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagt GGTCAGTAACTT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAggtcagtaacttAGATCGAGACCCGACGC chr17:76023617-Reference-C;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Variant A actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagt ACCGGCGTAGTT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaccggcgtagttAGATCGAGACCCGACGC chr17:76023617-Variant-A;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Variant A actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagt GGTTCACATAAC CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAggttcacataacAGATCGAGACCCGACGC chr17:76023617-Variant-A;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Variant A actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagt CGAATCGCTGGT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAcgaatcgctggtAGATCGAGACCCGACGC chr17:76023617-Variant-A;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Reference C actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagt AACCGAACGGAG CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaaccgaacggagAGATCGAGACCCGACGC chr17:76023617-Reference-C;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Variant A actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagt GCGGACATTAGG CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatAcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAgcggacattaggAGATCGAGACCCGACGC chr17:76023617-Variant-A;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative T actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagt AGACGCATTCAT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatTcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAagacgcattcatAGATCGAGACCCGACGC chr17:76023617-Alternative-T;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Reference C actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagt ATTGTGTGCCGG CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAattgtgtgccggAGATCGAGACCCGACGC chr17:76023617-Reference-C;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Reference C actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagt AGGAGTCCATGG CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaggagtccatggAGATCGAGACCCGACGC chr17:76023617-Reference-C;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative G actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagt AGACTGGCAGCA CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAagactggcagcaAGATCGAGACCCGACGC chr17:76023617-Alternative-G;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Reference C actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagt AACACGCGAGCT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatCcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaacacgcgagctAGATCGAGACCCGACGC chr17:76023617-Reference-C;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative G actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagt CGATGCGTACCT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAcgatgcgtacctAGATCGAGACCCGACGC chr17:76023617-Alternative-G;Patient-57 chr17:76023617-CA DeNovo Patient-57 intronic TNRC6C NA 4.95e-05 -0.16 0.92 -1.73 TNRC6C 23298 Alternative G actctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagt AAGTCAGTTGCT CGACGCGGTCTCTCTCTactctggctagaaaaaaaacagagaaatacttgtaaagcaaggaattgatGcaagacccaatcttatgttttgggccttcatatctactttggagagagtAGAGGGAGACGGACGTCTCAATAAaagtcagttgctAGATCGAGACCCGACGC chr17:76023617-Alternative-G;Patient-57 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Variant A aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CTTAGCGATCCA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAActtagcgatccaAGATCGAGACCCGACGC chr17:76749438-Variant-A;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative T aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg ACTGGTTGACTA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAactggttgactaAGATCGAGACCCGACGC chr17:76749438-Alternative-T;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative T aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AGATAATGCGAC CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAagataatgcgacAGATCGAGACCCGACGC chr17:76749438-Alternative-T;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Variant A aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AAGTTCGAGACA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAaagttcgagacaAGATCGAGACCCGACGC chr17:76749438-Variant-A;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Variant A aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AATGCGTAACGT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAaatgcgtaacgtAGATCGAGACCCGACGC chr17:76749438-Variant-A;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Reference G aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CATAAGTGCGGC CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcataagtgcggcAGATCGAGACCCGACGC chr17:76749438-Reference-G;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative T aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CGCCGTAACACT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcgccgtaacactAGATCGAGACCCGACGC chr17:76749438-Alternative-T;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative T aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg ACACCGAGTGGT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAacaccgagtggtAGATCGAGACCCGACGC chr17:76749438-Alternative-T;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Reference G aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CGTGGACTACGT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcgtggactacgtAGATCGAGACCCGACGC chr17:76749438-Reference-G;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Variant A aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg GCAAGGCACGAA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAgcaaggcacgaaAGATCGAGACCCGACGC chr17:76749438-Variant-A;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Variant A aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CAGCGACATTCG CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaAgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcagcgacattcgAGATCGAGACCCGACGC chr17:76749438-Variant-A;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative C aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CATAGTACGGAA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcatagtacggaaAGATCGAGACCCGACGC chr17:76749438-Alternative-C;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative C aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg GTGCTAACAAGT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAgtgctaacaagtAGATCGAGACCCGACGC chr17:76749438-Alternative-C;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative C aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg CATCATACACCG CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAcatcatacaccgAGATCGAGACCCGACGC chr17:76749438-Alternative-C;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative T aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg GAGTCTCGCGTT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaTgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAgagtctcgcgttAGATCGAGACCCGACGC chr17:76749438-Alternative-T;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative C aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AGGCGGACAGAT CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAaggcggacagatAGATCGAGACCCGACGC chr17:76749438-Alternative-C;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Reference G aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AAGCGTCTGTGG CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAaagcgtctgtggAGATCGAGACCCGACGC chr17:76749438-Reference-G;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Reference G aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg AGTACTGCGCGA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAagtactgcgcgaAGATCGAGACCCGACGC chr17:76749438-Reference-G;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Reference G aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg GGCCAACCTAGA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaGgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAggccaacctagaAGATCGAGACCCGACGC chr17:76749438-Reference-G;Patient-55 chr17:76749438-GA Inherited Patient-55 intronic CYTH1 NA 4.95e-05 -0.52 0.07 -0.47 CYTH1 28937 Alternative C aaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtgg GACCACAAGTAA CGACGCGGTCTCTCTCTaaggaaaaaagaaagaaaaaataaaaacaagtcacaaggccggtgccacaCgcaagtgccaaacctccccagaagactcatgctcttggccaggcagtggAGAGGGAGACGGACGTCTCAATAAgaccacaagtaaAGATCGAGACCCGACGC chr17:76749438-Alternative-C;Patient-55 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative T gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GTGTTGAGTTCA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAgtgttgagttcaAGATCGAGACCCGACGC chr17:77802810-Alternative-T;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Variant G gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GTATACGTAAGG CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAgtatacgtaaggAGATCGAGACCCGACGC chr17:77802810-Variant-G;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative T gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt CAACCTGAACAG CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAcaacctgaacagAGATCGAGACCCGACGC chr17:77802810-Alternative-T;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Variant G gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GGACATTCAACT CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAggacattcaactAGATCGAGACCCGACGC chr17:77802810-Variant-G;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative A gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt ACCGATTGGCGA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAaccgattggcgaAGATCGAGACCCGACGC chr17:77802810-Alternative-A;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative T gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt CGAAGTCTCTGA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAcgaagtctctgaAGATCGAGACCCGACGC chr17:77802810-Alternative-T;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Variant G gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt CTACGTTGACTT CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAActacgttgacttAGATCGAGACCCGACGC chr17:77802810-Variant-G;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative A gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt ACTCCTTCTATC CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAactccttctatcAGATCGAGACCCGACGC chr17:77802810-Alternative-A;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Variant G gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt AGTTCATAGACG CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAagttcatagacgAGATCGAGACCCGACGC chr17:77802810-Variant-G;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative T gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt CGAGAGCGAATC CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAcgagagcgaatcAGATCGAGACCCGACGC chr17:77802810-Alternative-T;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Reference C gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt AGGCCGCTAGAA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAaggccgctagaaAGATCGAGACCCGACGC chr17:77802810-Reference-C;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Reference C gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GGATACGATCCA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAggatacgatccaAGATCGAGACCCGACGC chr17:77802810-Reference-C;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative A gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt AACAACACGAAC CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAaacaacacgaacAGATCGAGACCCGACGC chr17:77802810-Alternative-A;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative T gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GCAATCATAGCG CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacTtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAgcaatcatagcgAGATCGAGACCCGACGC chr17:77802810-Alternative-T;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Reference C gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt ACTACGCAAGAT CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAactacgcaagatAGATCGAGACCCGACGC chr17:77802810-Reference-C;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Reference C gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt ACAAGTACCGGT CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAacaagtaccggtAGATCGAGACCCGACGC chr17:77802810-Reference-C;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Variant G gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GTACGAAGCCAA CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacGtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAgtacgaagccaaAGATCGAGACCCGACGC chr17:77802810-Variant-G;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Reference C gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt GATCATTCTAGG CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacCtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAgatcattctaggAGATCGAGACCCGACGC chr17:77802810-Reference-C;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative A gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt AGATTCTAGCGT CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAAagattctagcgtAGATCGAGACCCGACGC chr17:77802810-Alternative-A;Patient-19 chr17:77802810-CG DeNovo Patient-19 intergenic 0.000382 0.000513 0.16 5.2 0.52 CBX4 10402 Alternative A gactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggattt CTGAATCTCCGC CGACGCGGTCTCTCTCTgactggctgtttgaccttgggcaggttactcaaggcctccatattgccacAtgtgagagagggacaatgacattccccacctcaccagatgtgaggatttAGAGGGAGACGGACGTCTCAATAActgaatctccgcAGATCGAGACCCGACGC chr17:77802810-Alternative-A;Patient-19 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Reference C tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt ACCGTGACGAGA CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAaccgtgacgagaAGATCGAGACCCGACGC chr17:7800784-Reference-C;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Variant G tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CGCCAACCGAAT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcgccaaccgaatAGATCGAGACCCGACGC chr17:7800784-Variant-G;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Variant G tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt AGCAACGGAATT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAagcaacggaattAGATCGAGACCCGACGC chr17:7800784-Variant-G;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Variant G tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt GCCAATCCTATT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAgccaatcctattAGATCGAGACCCGACGC chr17:7800784-Variant-G;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Reference C tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt AACTTCCGGCAG CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAaacttccggcagAGATCGAGACCCGACGC chr17:7800784-Reference-C;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative T tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CGCGCGAATAAC CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcgcgcgaataacAGATCGAGACCCGACGC chr17:7800784-Alternative-T;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Reference C tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt AGCATTGTTCCT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAagcattgttcctAGATCGAGACCCGACGC chr17:7800784-Reference-C;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Variant G tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt AGTGTAGTCTAC CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAagtgtagtctacAGATCGAGACCCGACGC chr17:7800784-Variant-G;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative A tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CATCTCTCGACG CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcatctctcgacgAGATCGAGACCCGACGC chr17:7800784-Alternative-A;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Reference C tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CTTATACTAGCG CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAActtatactagcgAGATCGAGACCCGACGC chr17:7800784-Reference-C;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative T tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CAGATTAGTCGT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcagattagtcgtAGATCGAGACCCGACGC chr17:7800784-Alternative-T;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative T tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CGTTCGGTCGTT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcgttcggtcgttAGATCGAGACCCGACGC chr17:7800784-Alternative-T;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Variant G tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt ACGGCTCTCTGT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaGaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAacggctctctgtAGATCGAGACCCGACGC chr17:7800784-Variant-G;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative A tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt GGTGAACTAACA CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAggtgaactaacaAGATCGAGACCCGACGC chr17:7800784-Alternative-A;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative T tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CGATCGAGTATT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAcgatcgagtattAGATCGAGACCCGACGC chr17:7800784-Alternative-T;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative A tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt GTAGTCCGGAGT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAgtagtccggagtAGATCGAGACCCGACGC chr17:7800784-Alternative-A;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative T tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt GTTGAGGTCACT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaTaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAgttgaggtcactAGATCGAGACCCGACGC chr17:7800784-Alternative-T;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Reference C tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt CTAGTGGAACGC CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaCaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAActagtggaacgcAGATCGAGACCCGACGC chr17:7800784-Reference-C;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative A tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt GTTCATCCTGCG CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAgttcatcctgcgAGATCGAGACCCGACGC chr17:7800784-Alternative-A;Patient-58 chr17:7800784-CG DeNovo Patient-58 intronic CHD3 NA 9.9e-05 0.16 5.26 2.86 CHD3 12660 Alternative A tgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgt AACTCGGTGATT CGACGCGGTCTCTCTCTtgtagctccagcctttctggccttgtttcctccaggggaacgggagaaaaAaggaggaaaatccggccaggcagtgcctcttttgtcctttgcctcctgtAGAGGGAGACGGACGTCTCAATAAaactcggtgattAGATCGAGACCCGACGC chr17:7800784-Alternative-A;Patient-58 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Reference T aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca GCAAGCGAACGA CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAgcaagcgaacgaAGATCGAGACCCGACGC chr17:78124041-Reference-T;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative A aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CGGATGAATCTT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcggatgaatcttAGATCGAGACCCGACGC chr17:78124041-Alternative-A;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Reference T aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CGTGTGGTAGTC CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcgtgtggtagtcAGATCGAGACCCGACGC chr17:78124041-Reference-T;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Variant C aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca AAGCAAGCCAGG CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAaagcaagccaggAGATCGAGACCCGACGC chr17:78124041-Variant-C;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Reference T aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca AGAGCTAATGCA CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAagagctaatgcaAGATCGAGACCCGACGC chr17:78124041-Reference-T;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative G aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca GCGATGCACAAT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAgcgatgcacaatAGATCGAGACCCGACGC chr17:78124041-Alternative-G;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative G aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CGGCTGTGAACA CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcggctgtgaacaAGATCGAGACCCGACGC chr17:78124041-Alternative-G;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative G aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CTACGGCACGAT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAActacggcacgatAGATCGAGACCCGACGC chr17:78124041-Alternative-G;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Reference T aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca GCCGCACTATAT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAgccgcactatatAGATCGAGACCCGACGC chr17:78124041-Reference-T;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Reference T aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CAGTTGCTATGA CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacTtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcagttgctatgaAGATCGAGACCCGACGC chr17:78124041-Reference-T;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative G aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CGCCTCTCCTAT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcgcctctcctatAGATCGAGACCCGACGC chr17:78124041-Alternative-G;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative A aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca GCGGATAGATGC CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAgcggatagatgcAGATCGAGACCCGACGC chr17:78124041-Alternative-A;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative A aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca AACGCGCTACGA CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAaacgcgctacgaAGATCGAGACCCGACGC chr17:78124041-Alternative-A;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Variant C aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca AACAGCGAACTT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAaacagcgaacttAGATCGAGACCCGACGC chr17:78124041-Variant-C;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative G aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CTAGACTGGTGT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacGtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAActagactggtgtAGATCGAGACCCGACGC chr17:78124041-Alternative-G;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Variant C aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca CATCTCGCGACT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAcatctcgcgactAGATCGAGACCCGACGC chr17:78124041-Variant-C;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative A aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca AATCTGCGCAAT CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAaatctgcgcaatAGATCGAGACCCGACGC chr17:78124041-Alternative-A;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Variant C aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca GAATTGACGTGC CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAgaattgacgtgcAGATCGAGACCCGACGC chr17:78124041-Variant-C;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Alternative A aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca ACCTTGGCAATC CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacAtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAaccttggcaatcAGATCGAGACCCGACGC chr17:78124041-Alternative-A;Patient-61 chr17:78124041-TC Inherited Patient-61 intergenic 0.000605 0.00103 -0.13 1.17 -0.22 EIF4A3 3058 Variant C aaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgaca ACAACAACGGCG CGACGCGGTCTCTCTCTaaatgttgtttatgccaggtgtctgaacacacatcttaaagggctctaacCtttctggggagcagtagctttttagcccagagtctatgacaatgtgacaAGAGGGAGACGGACGTCTCAATAAacaacaacggcgAGATCGAGACCCGACGC chr17:78124041-Variant-C;Patient-61 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Reference T caagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CTCGTCAATCAT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAActcgtcaatcatAGATCGAGACCCGACGC chr17:78139067-Reference-T;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative G caagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CGAGCTAGGCTA CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAcgagctaggctaAGATCGAGACCCGACGC chr17:78139067-Alternative-G;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative G caagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CGCGACTGGTAT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAcgcgactggtatAGATCGAGACCCGACGC chr17:78139067-Alternative-G;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Reference T caagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GGTTGGTCGAAG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAggttggtcgaagAGATCGAGACCCGACGC chr17:78139067-Reference-T;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative G caagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg AGGTGCGTTGCT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAaggtgcgttgctAGATCGAGACCCGACGC chr17:78139067-Alternative-G;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Reference T caagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GTCGAAGCTAGG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAgtcgaagctaggAGATCGAGACCCGACGC chr17:78139067-Reference-T;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative G caagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg ACTGCGCTTATT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAactgcgcttattAGATCGAGACCCGACGC chr17:78139067-Alternative-G;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Reference T caagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg AGGACTCTATCA CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAaggactctatcaAGATCGAGACCCGACGC chr17:78139067-Reference-T;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative A caagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GCGACAGTACAG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAgcgacagtacagAGATCGAGACCCGACGC chr17:78139067-Alternative-A;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Reference T caagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GATATCGCGTGC CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttTtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAgatatcgcgtgcAGATCGAGACCCGACGC chr17:78139067-Reference-T;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative A caagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg AGCCGCATGTAA CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAagccgcatgtaaAGATCGAGACCCGACGC chr17:78139067-Alternative-A;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative A caagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CGGATTGACTAA CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAcggattgactaaAGATCGAGACCCGACGC chr17:78139067-Alternative-A;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative A caagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg ACTCTCTAGGTT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAactctctaggttAGATCGAGACCCGACGC chr17:78139067-Alternative-A;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Variant C caagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CTAGTATCCGCG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAActagtatccgcgAGATCGAGACCCGACGC chr17:78139067-Variant-C;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Variant C caagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg ACGGTGGTAGGT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAacggtggtaggtAGATCGAGACCCGACGC chr17:78139067-Variant-C;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative A caagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg ACACTTAACCGA CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttAtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAacacttaaccgaAGATCGAGACCCGACGC chr17:78139067-Alternative-A;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Variant C caagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg ATAGATACGTGG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAatagatacgtggAGATCGAGACCCGACGC chr17:78139067-Variant-C;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Variant C caagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GATAGTGACGAG CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAgatagtgacgagAGATCGAGACCCGACGC chr17:78139067-Variant-C;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Alternative G caagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg CGCACCATAATT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttGtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAcgcaccataattAGATCGAGACCCGACGC chr17:78139067-Alternative-G;Patient-62 chr17:78139067-TC DeNovo Patient-62 intergenic 0.000147 0.000513 0.47 9.14 0 EIF4A3 18084 Variant C caagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcg GGCTAGTTGCCT CGACGCGGTCTCTCTCTcaagcccagctaattttcatgtttttttctttttttttctttttttttttCtttgagacagagtctagctctctcgcccaggctggagtgcagtggcgcgAGAGGGAGACGGACGTCTCAATAAggctagttgcctAGATCGAGACCCGACGC chr17:78139067-Variant-C;Patient-62 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative C agagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GACCATCGACCA CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAgaccatcgaccaAGATCGAGACCCGACGC chr17:78461772-Alternative-C;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative C agagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GAATATGGCTGT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAgaatatggctgtAGATCGAGACCCGACGC chr17:78461772-Alternative-C;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative C agagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg CGCGTAAGCGTT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAcgcgtaagcgttAGATCGAGACCCGACGC chr17:78461772-Alternative-C;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative C agagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AGCGCGCTAGAT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAagcgcgctagatAGATCGAGACCCGACGC chr17:78461772-Alternative-C;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative C agagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GGAATAACACAC CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtCgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAggaataacacacAGATCGAGACCCGACGC chr17:78461772-Alternative-C;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Variant A agagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GATTCTCGGACG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAgattctcggacgAGATCGAGACCCGACGC chr17:78461772-Variant-A;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Variant A agagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg ATCGATCTACGC CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAatcgatctacgcAGATCGAGACCCGACGC chr17:78461772-Variant-A;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Variant A agagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GTTGTGTCGACG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAgttgtgtcgacgAGATCGAGACCCGACGC chr17:78461772-Variant-A;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Reference G agagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg CGCCAAGAATCG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAcgccaagaatcgAGATCGAGACCCGACGC chr17:78461772-Reference-G;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative T agagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AGGACCTTAACT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAaggaccttaactAGATCGAGACCCGACGC chr17:78461772-Alternative-T;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Reference G agagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg ACGCTAGTCTGG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAacgctagtctggAGATCGAGACCCGACGC chr17:78461772-Reference-G;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative T agagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AGGTTAGTACGC CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAaggttagtacgcAGATCGAGACCCGACGC chr17:78461772-Alternative-T;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative T agagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg CTGAGTAGGTGG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAActgagtaggtggAGATCGAGACCCGACGC chr17:78461772-Alternative-T;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Reference G agagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AAGACCGATGTT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAaagaccgatgttAGATCGAGACCCGACGC chr17:78461772-Reference-G;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Variant A agagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg ACCTACTTCTGA CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAacctacttctgaAGATCGAGACCCGACGC chr17:78461772-Variant-A;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative T agagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg ACAGAGATAGCG CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAacagagatagcgAGATCGAGACCCGACGC chr17:78461772-Alternative-T;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Variant A agagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GGAGGACTCATA CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtAgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAggaggactcataAGATCGAGACCCGACGC chr17:78461772-Variant-A;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Reference G agagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg GTTGGTTCTGTT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAgttggttctgttAGATCGAGACCCGACGC chr17:78461772-Reference-G;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Alternative T agagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AGTAACACACGA CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtTgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAagtaacacacgaAGATCGAGACCCGACGC chr17:78461772-Alternative-T;Patient-25 chr17:78461772-GA DeNovo Patient-25 intergenic NA 0.000512821 -0.37 0.22 -0.86 NPTX1 11367 Reference G agagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggaggg AGCTCGCGAGTT CGACGCGGTCTCTCTCTagagggatggacacagtggagaggaggtacatggtggagaggatggacgtGgtggaggggagggacgcggtggagaggatggacgcagtggagaggagggAGAGGGAGACGGACGTCTCAATAAagctcgcgagttAGATCGAGACCCGACGC chr17:78461772-Reference-G;Patient-25 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Variant G atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga AACGCAATCGGT CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAaacgcaatcggtAGATCGAGACCCGACGC chr17:78589923-Variant-G;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative T atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga CAAGCGTGGCTA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAcaagcgtggctaAGATCGAGACCCGACGC chr17:78589923-Alternative-T;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Reference A atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga ACGCGCATGCTT CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAacgcgcatgcttAGATCGAGACCCGACGC chr17:78589923-Reference-A;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Reference A atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga ACGCGAAGTTCG CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAacgcgaagttcgAGATCGAGACCCGACGC chr17:78589923-Reference-A;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative T atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GCAGTGCATTCG CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgcagtgcattcgAGATCGAGACCCGACGC chr17:78589923-Alternative-T;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Reference A atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga ACTACCAGATCA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAactaccagatcaAGATCGAGACCCGACGC chr17:78589923-Reference-A;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Variant G atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GGCTTCGCTAGA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAggcttcgctagaAGATCGAGACCCGACGC chr17:78589923-Variant-G;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Reference A atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga AGCGCGTGATTA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAagcgcgtgattaAGATCGAGACCCGACGC chr17:78589923-Reference-A;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative T atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GGATGGTTCGAG CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAggatggttcgagAGATCGAGACCCGACGC chr17:78589923-Alternative-T;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Reference A atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga CATAATGTCCGA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacAtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAcataatgtccgaAGATCGAGACCCGACGC chr17:78589923-Reference-A;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative C atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GAGAGTAGTATC CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgagagtagtatcAGATCGAGACCCGACGC chr17:78589923-Alternative-C;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Variant G atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GACCAATAAGCA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgaccaataagcaAGATCGAGACCCGACGC chr17:78589923-Variant-G;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative C atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga CGTTGCACCTAC CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAcgttgcacctacAGATCGAGACCCGACGC chr17:78589923-Alternative-C;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative C atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GTCTAGATGGCG CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgtctagatggcgAGATCGAGACCCGACGC chr17:78589923-Alternative-C;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Variant G atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GAAGAGACTGAT CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgaagagactgatAGATCGAGACCCGACGC chr17:78589923-Variant-G;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative T atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga ATATTCGCGTAC CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAatattcgcgtacAGATCGAGACCCGACGC chr17:78589923-Alternative-T;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative C atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga CGATAGTCGTAC CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAcgatagtcgtacAGATCGAGACCCGACGC chr17:78589923-Alternative-C;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative C atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga GACGTACGCGTT CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacCtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAgacgtacgcgttAGATCGAGACCCGACGC chr17:78589923-Alternative-C;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Variant G atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga ACACCACGCTTC CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacGtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAacaccacgcttcAGATCGAGACCCGACGC chr17:78589923-Variant-G;Patient-80 chr17:78589923-AG DeNovo Patient-80 intronic RPTOR NA 3.84e-05 0.04 3.33 0.73 RPTOR 71297 Alternative T atttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatga CGATGTATCCAA CGACGCGGTCTCTCTCTatttttacttgccttggggttgatttgatgaagcctgtaccatgggtaacTtattgctggataatgaagagtggaaggaaaattagccctgaatgaatgaAGAGGGAGACGGACGTCTCAATAAcgatgtatccaaAGATCGAGACCCGACGC chr17:78589923-Alternative-T;Patient-80 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Reference C gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac GGTTATGGTCGC CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAggttatggtcgcAGATCGAGACCCGACGC chr17:78971414-Reference-C;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Variant T gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGTATACGAGAA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcgtatacgagaaAGATCGAGACCCGACGC chr17:78971414-Variant-T;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Variant T gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac GTGACTACTACA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAgtgactactacaAGATCGAGACCCGACGC chr17:78971414-Variant-T;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative G gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGACTATCATTC CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcgactatcattcAGATCGAGACCCGACGC chr17:78971414-Alternative-G;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Variant T gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CAGAGGTTCGTC CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcagaggttcgtcAGATCGAGACCCGACGC chr17:78971414-Variant-T;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative A gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CTATGTCGGTCC CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAActatgtcggtccAGATCGAGACCCGACGC chr17:78971414-Alternative-A;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Reference C gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGGAATCTCGCT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcggaatctcgctAGATCGAGACCCGACGC chr17:78971414-Reference-C;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Variant T gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGGTATCGTCGA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcggtatcgtcgaAGATCGAGACCCGACGC chr17:78971414-Variant-T;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Variant T gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGGACGTAGACT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaTggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcggacgtagactAGATCGAGACCCGACGC chr17:78971414-Variant-T;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative A gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CTCGTGCGTATT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAActcgtgcgtattAGATCGAGACCCGACGC chr17:78971414-Alternative-A;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative G gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac GGCTGTTAGTTA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAggctgttagttaAGATCGAGACCCGACGC chr17:78971414-Alternative-G;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Reference C gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CTAATGACTCCT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAActaatgactcctAGATCGAGACCCGACGC chr17:78971414-Reference-C;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Reference C gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac AGCCACGCTGAT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAagccacgctgatAGATCGAGACCCGACGC chr17:78971414-Reference-C;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative G gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac GTTCCATTCGAT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAgttccattcgatAGATCGAGACCCGACGC chr17:78971414-Alternative-G;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative G gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CGCAAGTAATCA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAcgcaagtaatcaAGATCGAGACCCGACGC chr17:78971414-Alternative-G;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative G gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CTTGCCTCATAA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaGggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAActtgcctcataaAGATCGAGACCCGACGC chr17:78971414-Alternative-G;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative A gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac ACCGTCTGTAGA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAaccgtctgtagaAGATCGAGACCCGACGC chr17:78971414-Alternative-A;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative A gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac GCGTCCTACGAA CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAgcgtcctacgaaAGATCGAGACCCGACGC chr17:78971414-Alternative-A;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Reference C gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac AGGTAAGGTGGT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaCggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAAaggtaaggtggtAGATCGAGACCCGACGC chr17:78971414-Reference-C;Patient-58 chr17:78971414-CT Inherited Patient-58 intronic CHMP6 3.2e-05 0.000346 -0.1 1.44 -3.35 CHMP6 5772 Alternative A gggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccac CTCAATCGTGGT CGACGCGGTCTCTCTCTgggtgctgggccttcctggcgcctcggcccctttctgtccccggctgtcaAggatgtggtgctggctttccccagccgtggctgctgactcacgtcccacAGAGGGAGACGGACGTCTCAATAActcaatcgtggtAGATCGAGACCCGACGC chr17:78971414-Alternative-A;Patient-58 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Variant G atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GCGGATTACGCA CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAgcggattacgcaAGATCGAGACCCGACGC chr17:7898351-Variant-G;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Variant G atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca ATCACGATGGAA CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAatcacgatggaaAGATCGAGACCCGACGC chr17:7898351-Variant-G;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Variant G atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca ATCTGCGGTAGG CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAatctgcggtaggAGATCGAGACCCGACGC chr17:7898351-Variant-G;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative T atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca CGTTCAACTTGT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAcgttcaacttgtAGATCGAGACCCGACGC chr17:7898351-Alternative-T;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Reference A atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca AAGCGCACGCTT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAaagcgcacgcttAGATCGAGACCCGACGC chr17:7898351-Reference-A;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Variant G atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca AACACTTCTAGG CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAaacacttctaggAGATCGAGACCCGACGC chr17:7898351-Variant-G;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Variant G atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca ACCGACTACGCA CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattGatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAaccgactacgcaAGATCGAGACCCGACGC chr17:7898351-Variant-G;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Reference A atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GTTAACGAGAGT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAgttaacgagagtAGATCGAGACCCGACGC chr17:7898351-Reference-A;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative C atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca ACTGAACGAACT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAactgaacgaactAGATCGAGACCCGACGC chr17:7898351-Alternative-C;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative T atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca AGTATCGCCACG CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAagtatcgccacgAGATCGAGACCCGACGC chr17:7898351-Alternative-T;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative C atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca CTATGCTTACAC CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAActatgcttacacAGATCGAGACCCGACGC chr17:7898351-Alternative-C;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative C atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GATGCGGCTAGT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAgatgcggctagtAGATCGAGACCCGACGC chr17:7898351-Alternative-C;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Reference A atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca AAGTTGAGATGC CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAaagttgagatgcAGATCGAGACCCGACGC chr17:7898351-Reference-A;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Reference A atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca CGTTCGGTCTAC CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAcgttcggtctacAGATCGAGACCCGACGC chr17:7898351-Reference-A;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative T atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca CAGATCCAACGT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAcagatccaacgtAGATCGAGACCCGACGC chr17:7898351-Alternative-T;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative C atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca CGTAGTGGTCGT CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAcgtagtggtcgtAGATCGAGACCCGACGC chr17:7898351-Alternative-C;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Reference A atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca AGATATAGTGCG CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattAatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAagatatagtgcgAGATCGAGACCCGACGC chr17:7898351-Reference-A;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative T atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GGTGATCGACAG CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAggtgatcgacagAGATCGAGACCCGACGC chr17:7898351-Alternative-T;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative C atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GTCAAGCGCACA CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattCatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAgtcaagcgcacaAGATCGAGACCCGACGC chr17:7898351-Alternative-C;Patient-73 chr17:7898351-AG DeNovo Patient-73 intergenic NA 0.000513 0.01 2.7 0.4 KCNAB3 65597 Alternative T atgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggca GCAGACGGTACA CGACGCGGTCTCTCTCTatgactttttaaaaattaggaagatgattaaaaagacaatataaaaaattTatgcataagaattatcaggaaaattctggaaaggaggagcaatgaggcaAGAGGGAGACGGACGTCTCAATAAgcagacggtacaAGATCGAGACCCGACGC chr17:7898351-Alternative-T;Patient-73 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Variant C gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GTTAGGTGTAGA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAgttaggtgtagaAGATCGAGACCCGACGC chr17:79071370-Variant-C;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Variant C gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGGAGTCTCTGT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAaggagtctctgtAGATCGAGACCCGACGC chr17:79071370-Variant-C;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Variant C gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttga ATTGGATCTGCA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAattggatctgcaAGATCGAGACCCGACGC chr17:79071370-Variant-C;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative A gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGAGTCCATACT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAagagtccatactAGATCGAGACCCGACGC chr17:79071370-Alternative-A;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Reference G gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttga CGTTATGTGAGT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAcgttatgtgagtAGATCGAGACCCGACGC chr17:79071370-Reference-G;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative A gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttga CAGGCTCTCCTA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAcaggctctcctaAGATCGAGACCCGACGC chr17:79071370-Alternative-A;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative A gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGACGATCGTAA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAagacgatcgtaaAGATCGAGACCCGACGC chr17:79071370-Alternative-A;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Variant C gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttga CAACTGTCGCGA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAcaactgtcgcgaAGATCGAGACCCGACGC chr17:79071370-Variant-C;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative T gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GTCGTTGGAAGG CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAgtcgttggaaggAGATCGAGACCCGACGC chr17:79071370-Alternative-T;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative A gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GCGTTCGCAGAT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAgcgttcgcagatAGATCGAGACCCGACGC chr17:79071370-Alternative-A;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Variant C gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGCGGCTATTGC CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttCcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAagcggctattgcAGATCGAGACCCGACGC chr17:79071370-Variant-C;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Reference G gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGAGGTGTTCAA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAagaggtgttcaaAGATCGAGACCCGACGC chr17:79071370-Reference-G;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative T gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttga CACGTCACGAGA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAcacgtcacgagaAGATCGAGACCCGACGC chr17:79071370-Alternative-T;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Reference G gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AACCGTTGCTAT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAaaccgttgctatAGATCGAGACCCGACGC chr17:79071370-Reference-G;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative T gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttga CGTCTTCGTACG CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAcgtcttcgtacgAGATCGAGACCCGACGC chr17:79071370-Alternative-T;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative T gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttga AGCGGAAGTGAT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAagcggaagtgatAGATCGAGACCCGACGC chr17:79071370-Alternative-T;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative A gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GGTGACATGTGG CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttAcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAggtgacatgtggAGATCGAGACCCGACGC chr17:79071370-Alternative-A;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Alternative T gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GTCAACACAACC CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttTcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAgtcaacacaaccAGATCGAGACCCGACGC chr17:79071370-Alternative-T;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Reference G gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GGATAACGTACA CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAggataacgtacaAGATCGAGACCCGACGC chr17:79071370-Reference-G;Patient-19 chr17:79071370-GC DeNovo Patient-19 intronic BAIAP2 NA 4.95e-05 1.53 15.92 1.79 BAIAP2 62422 Reference G gtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttga GGAGTCCGTCAT CGACGCGGTCTCTCTCTgtaggcggggcggccgcgaggctgagtcaggcaggggaggccgcccccttGcggaggccgcatcttcttaagagccgattctgaactgaccactccttgaAGAGGGAGACGGACGTCTCAATAAggagtccgtcatAGATCGAGACCCGACGC chr17:79071370-Reference-G;Patient-19 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative G ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CACTGAGAAGCA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcactgagaagcaAGATCGAGACCCGACGC chr17:79439056-Alternative-G;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative G ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc AGACGCAATCAA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAagacgcaatcaaAGATCGAGACCCGACGC chr17:79439056-Alternative-G;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Variant T ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc ACCGAACCGCTT CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAaccgaaccgcttAGATCGAGACCCGACGC chr17:79439056-Variant-T;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Reference C ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc AACACGAGAACT CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAaacacgagaactAGATCGAGACCCGACGC chr17:79439056-Reference-C;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Reference C ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc GCGAACGTTCCT CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAgcgaacgttcctAGATCGAGACCCGACGC chr17:79439056-Reference-C;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Reference C ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc GGCTAGTCGTCA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAggctagtcgtcaAGATCGAGACCCGACGC chr17:79439056-Reference-C;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative A ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc AAGTATAACGCG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAaagtataacgcgAGATCGAGACCCGACGC chr17:79439056-Alternative-A;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Reference C ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CGCGTGTTCAAG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcgcgtgttcaagAGATCGAGACCCGACGC chr17:79439056-Reference-C;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Variant T ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CGCGTGGAGTAA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcgcgtggagtaaAGATCGAGACCCGACGC chr17:79439056-Variant-T;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative A ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc GTCGCACTTGTC CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAgtcgcacttgtcAGATCGAGACCCGACGC chr17:79439056-Alternative-A;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative A ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc GAGTAGCGACAC CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAgagtagcgacacAGATCGAGACCCGACGC chr17:79439056-Alternative-A;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Reference C ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc GCGGCGCAATAT CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcCgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAgcggcgcaatatAGATCGAGACCCGACGC chr17:79439056-Reference-C;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative A ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc ATAAGCCTGAGA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAataagcctgagaAGATCGAGACCCGACGC chr17:79439056-Alternative-A;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative A ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CTTACGAGTCGG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcAgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAActtacgagtcggAGATCGAGACCCGACGC chr17:79439056-Alternative-A;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative G ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CATTACGACAGG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcattacgacaggAGATCGAGACCCGACGC chr17:79439056-Alternative-G;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Variant T ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CGGAATTCCACG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcggaattccacgAGATCGAGACCCGACGC chr17:79439056-Variant-T;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Variant T ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc AGAGCATGTCGG CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAagagcatgtcggAGATCGAGACCCGACGC chr17:79439056-Variant-T;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative G ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CGTAACCTTCTA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcgtaaccttctaAGATCGAGACCCGACGC chr17:79439056-Alternative-G;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Alternative G ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc AACTCTGAGGTT CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcGgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAaactctgaggttAGATCGAGACCCGACGC chr17:79439056-Alternative-G;Patient-92 chr17:79439056-CT Inherited Patient-92 intergenic 0.000287 0.000513 0.1 4.27 -1.96 ACTG1 40835 Variant T ttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggccc CGACAACAATGA CGACGCGGTCTCTCTCTttctgaaggatcagcaggcaaacagtgctgcccccagacacgcagggctcTgaaaagccaaagccctcagagggtgtccgaggccactgtcccagggcccAGAGGGAGACGGACGTCTCAATAAcgacaacaatgaAGATCGAGACCCGACGC chr17:79439056-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Variant T gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AGGCCGCATGAA CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAaggccgcatgaaAGATCGAGACCCGACGC chr17:79775277-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Variant T gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AGCGTTCACAAT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAagcgttcacaatAGATCGAGACCCGACGC chr17:79775277-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative A gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GTCTAGTCGTGG CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAgtctagtcgtggAGATCGAGACCCGACGC chr17:79775277-Alternative-A;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative G gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CATCTCGCCTAC CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAcatctcgcctacAGATCGAGACCCGACGC chr17:79775277-Alternative-G;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Reference C gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CTGGTAACTCAT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAActggtaactcatAGATCGAGACCCGACGC chr17:79775277-Reference-C;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative G gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AGACGTAACGAG CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAagacgtaacgagAGATCGAGACCCGACGC chr17:79775277-Alternative-G;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Reference C gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac ATACAACTCGCA CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAatacaactcgcaAGATCGAGACCCGACGC chr17:79775277-Reference-C;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Variant T gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AAGTCGATTAGG CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAaagtcgattaggAGATCGAGACCCGACGC chr17:79775277-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Reference C gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AAGGCTTAACCT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAaaggcttaacctAGATCGAGACCCGACGC chr17:79775277-Reference-C;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Variant T gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GGCCGATTATGC CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAggccgattatgcAGATCGAGACCCGACGC chr17:79775277-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Reference C gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CTAAGCGAAGTC CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAActaagcgaagtcAGATCGAGACCCGACGC chr17:79775277-Reference-C;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative A gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GTACAAGCCGCA CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAgtacaagccgcaAGATCGAGACCCGACGC chr17:79775277-Alternative-A;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative G gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GGCGCTATCAGT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAggcgctatcagtAGATCGAGACCCGACGC chr17:79775277-Alternative-G;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative G gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GTATCCGTTGCG CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAgtatccgttgcgAGATCGAGACCCGACGC chr17:79775277-Alternative-G;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative A gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac ATCTGCTTGCAT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAatctgcttgcatAGATCGAGACCCGACGC chr17:79775277-Alternative-A;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative G gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CTTAGTCAGACT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatGgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAActtagtcagactAGATCGAGACCCGACGC chr17:79775277-Alternative-G;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative A gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac AGGTATGCGACG CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAaggtatgcgacgAGATCGAGACCCGACGC chr17:79775277-Alternative-A;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Reference C gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CAGTCGTGTGCA CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatCgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAcagtcgtgtgcaAGATCGAGACCCGACGC chr17:79775277-Reference-C;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Variant T gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac GAGTAGTACTGA CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatTgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAgagtagtactgaAGATCGAGACCCGACGC chr17:79775277-Variant-T;Patient-92 chr17:79775277-CT Inherited Patient-92 intergenic 9.6e-05 0.000513 -0.37 0.22 -0.23 ARHGDIA 54004 Alternative A gcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaac CGCACGTATAGT CGACGCGGTCTCTCTCTgcaggagaatggcgtgaacccaggaggcgcagcttgcagtgagccgagatAgcgccactgcactccagcttgggcaacagagtgagactccgcctcaaacAGAGGGAGACGGACGTCTCAATAAcgcacgtatagtAGATCGAGACCCGACGC chr17:79775277-Alternative-A;Patient-92 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative T gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GTCAGATATCCT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgtcagatatcctAGATCGAGACCCGACGC chr17:79838634-Alternative-T;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative T gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg ACGCACCTACAG CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAacgcacctacagAGATCGAGACCCGACGC chr17:79838634-Alternative-T;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative T gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GTAACGTGAGCG CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgtaacgtgagcgAGATCGAGACCCGACGC chr17:79838634-Alternative-T;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative T gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GTAGATGACTGA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgtagatgactgaAGATCGAGACCCGACGC chr17:79838634-Alternative-T;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Variant A gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg CTAGGCGCTAAC CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAActaggcgctaacAGATCGAGACCCGACGC chr17:79838634-Variant-A;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Variant A gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg CAAGCTGACGCT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAcaagctgacgctAGATCGAGACCCGACGC chr17:79838634-Variant-A;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Variant A gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg AAGATAATCGCG CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAaagataatcgcgAGATCGAGACCCGACGC chr17:79838634-Variant-A;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Variant A gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg CTGAGATAACGA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAActgagataacgaAGATCGAGACCCGACGC chr17:79838634-Variant-A;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Variant A gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GGACTTATGAGA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaAgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAggacttatgagaAGATCGAGACCCGACGC chr17:79838634-Variant-A;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative C gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GGCGATTAGACG CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAggcgattagacgAGATCGAGACCCGACGC chr17:79838634-Alternative-C;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative C gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg ACCGATGAGATA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAaccgatgagataAGATCGAGACCCGACGC chr17:79838634-Alternative-C;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative C gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GGCGGTATGAGT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAggcggtatgagtAGATCGAGACCCGACGC chr17:79838634-Alternative-C;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Reference G gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg AAGATACGGTAC CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAaagatacggtacAGATCGAGACCCGACGC chr17:79838634-Reference-G;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative T gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg AGATCACGGCCA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaTgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAagatcacggccaAGATCGAGACCCGACGC chr17:79838634-Alternative-T;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative C gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GACATAATCGGT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgacataatcggtAGATCGAGACCCGACGC chr17:79838634-Alternative-C;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Reference G gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg AAGATCGCGTCG CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAaagatcgcgtcgAGATCGAGACCCGACGC chr17:79838634-Reference-G;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Reference G gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg AGCCGCCGTATT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAagccgccgtattAGATCGAGACCCGACGC chr17:79838634-Reference-G;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Reference G gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GTCATTAGGTGT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgtcattaggtgtAGATCGAGACCCGACGC chr17:79838634-Reference-G;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Alternative C gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GATTCAACGGCA CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaCgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAgattcaacggcaAGATCGAGACCCGACGC chr17:79838634-Alternative-C;Patient-15 chr17:79838634-GA DeNovo Patient-15 intergenic NA 3.92e-05 -0.06 1.8 0.23 ARHGDIA 9351 Reference G gcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatgg GGAAGTGTCGGT CGACGCGGTCTCTCTCTgcagggcgtggtggctcaggcctgtaatcccagcacttttgggaggccaaGgcggatggatcatgaggtcaggagttcaagaccagcctggccagcatggAGAGGGAGACGGACGTCTCAATAAggaagtgtcggtAGATCGAGACCCGACGC chr17:79838634-Reference-G;Patient-15 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Variant C ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GGTCTTGAAGAA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAggtcttgaagaaAGATCGAGACCCGACGC chr17:79890564-Variant-C;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Variant C ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GGCTTAGCGGAT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAggcttagcggatAGATCGAGACCCGACGC chr17:79890564-Variant-C;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Variant C ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg AGCTTAGCTTCT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAagcttagcttctAGATCGAGACCCGACGC chr17:79890564-Variant-C;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative G ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GTCAATGATGCT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAgtcaatgatgctAGATCGAGACCCGACGC chr17:79890564-Alternative-G;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Reference T ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg AGTTGGAATACG CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAagttggaatacgAGATCGAGACCCGACGC chr17:79890564-Reference-T;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Reference T ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GGTATCGCGTGA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAggtatcgcgtgaAGATCGAGACCCGACGC chr17:79890564-Reference-T;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Reference T ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ATCGGTGACATA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAatcggtgacataAGATCGAGACCCGACGC chr17:79890564-Reference-T;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Reference T ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ATCCGTTAAGGT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAatccgttaaggtAGATCGAGACCCGACGC chr17:79890564-Reference-T;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Variant C ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg CGAGTTCGCTAT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAcgagttcgctatAGATCGAGACCCGACGC chr17:79890564-Variant-C;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative G ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg CGGAAGTAAGAA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAcggaagtaagaaAGATCGAGACCCGACGC chr17:79890564-Alternative-G;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Reference T ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg AATGAGTACGCA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaTgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAaatgagtacgcaAGATCGAGACCCGACGC chr17:79890564-Reference-T;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Variant C ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ACGAATTCGGAA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaCgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAacgaattcggaaAGATCGAGACCCGACGC chr17:79890564-Variant-C;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative G ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GGAGGAGTTGCT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAggaggagttgctAGATCGAGACCCGACGC chr17:79890564-Alternative-G;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative A ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg CAGACGATGCGA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAcagacgatgcgaAGATCGAGACCCGACGC chr17:79890564-Alternative-A;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative A ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GTAGAGTGTACA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAgtagagtgtacaAGATCGAGACCCGACGC chr17:79890564-Alternative-A;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative A ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg GATACAGTTCCA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAgatacagttccaAGATCGAGACCCGACGC chr17:79890564-Alternative-A;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative G ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ACAAGTCGACAC CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAacaagtcgacacAGATCGAGACCCGACGC chr17:79890564-Alternative-G;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative A ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ACTCGTCTTGAT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAactcgtcttgatAGATCGAGACCCGACGC chr17:79890564-Alternative-A;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative A ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg CGCCTGGATAGT CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaAgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAcgcctggatagtAGATCGAGACCCGACGC chr17:79890564-Alternative-A;Patient-6 chr17:79890564-TC DeNovo Patient-6 3 prime UTR PYCR1 NA 4.95e-05 0.06 3.52 -6.18 PYCR1 4403 Alternative G ggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctgg ACCGTAGCGCTA CGACGCGGTCTCTCTCTggccacagaagttcaccagcagcccaaggagccctttccccaaatgtccaGgggatctgcgtgcttggcagccaagaggggctgtggcccttcacgctggAGAGGGAGACGGACGTCTCAATAAaccgtagcgctaAGATCGAGACCCGACGC chr17:79890564-Alternative-G;Patient-6 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Variant A taggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GAATGTCTGTGG CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgaatgtctgtggAGATCGAGACCCGACGC chr17:80228385-Variant-A;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative T taggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GGTTGATTGCCG CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAggttgattgccgAGATCGAGACCCGACGC chr17:80228385-Alternative-T;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative C taggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CAACGTGGTAAC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAcaacgtggtaacAGATCGAGACCCGACGC chr17:80228385-Alternative-C;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative C taggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CTCATGGATAAC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAActcatggataacAGATCGAGACCCGACGC chr17:80228385-Alternative-C;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative C taggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa ATTATACGGCGC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAattatacggcgcAGATCGAGACCCGACGC chr17:80228385-Alternative-C;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative C taggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa ACGCTACTCGCT CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAacgctactcgctAGATCGAGACCCGACGC chr17:80228385-Alternative-C;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative C taggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GGCTGTTAGATT CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagCtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAggctgttagattAGATCGAGACCCGACGC chr17:80228385-Alternative-C;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative T taggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GTCGCAATAAGA CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgtcgcaataagaAGATCGAGACCCGACGC chr17:80228385-Alternative-T;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative T taggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GTCATGTCTATC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgtcatgtctatcAGATCGAGACCCGACGC chr17:80228385-Alternative-T;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative T taggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CGCTGCAACGAA CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAcgctgcaacgaaAGATCGAGACCCGACGC chr17:80228385-Alternative-T;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Alternative T taggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CGTTAAGGAGGT CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagTtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAcgttaaggaggtAGATCGAGACCCGACGC chr17:80228385-Alternative-T;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Reference G taggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa AGACGGAGATCG CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAagacggagatcgAGATCGAGACCCGACGC chr17:80228385-Reference-G;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Reference G taggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GACGTATGTAAC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgacgtatgtaacAGATCGAGACCCGACGC chr17:80228385-Reference-G;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Reference G taggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa ACTGCTAGGTCG CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAactgctaggtcgAGATCGAGACCCGACGC chr17:80228385-Reference-G;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Reference G taggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GTACTGCTACTA CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgtactgctactaAGATCGAGACCCGACGC chr17:80228385-Reference-G;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Reference G taggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa GCAAGTGTTCGC CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagGtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAgcaagtgttcgcAGATCGAGACCCGACGC chr17:80228385-Reference-G;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Variant A taggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CGTGGTTCATAA CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAcgtggttcataaAGATCGAGACCCGACGC chr17:80228385-Variant-A;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Variant A taggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa CTTGGATTGGAT CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAActtggattggatAGATCGAGACCCGACGC chr17:80228385-Variant-A;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Variant A taggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa ATTGTTAGCGCT CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAattgttagcgctAGATCGAGACCCGACGC chr17:80228385-Variant-A;Patient-30 chr17:80228385-GA Inherited Patient-30 intronic CSNK1D 0.00051 4.95e-05 NA NA NA CSNK1D 3208 Variant A taggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaa ACTGCGTTAACA CGACGCGGTCTCTCTCTtaggaatggtcttaacgatactcatactagaatatacacgacacacagagAtcaagatgaagacctagttcctcgatttatgtgtaactggctgcccaaaAGAGGGAGACGGACGTCTCAATAAactgcgttaacaAGATCGAGACCCGACGC chr17:80228385-Variant-A;Patient-30 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Reference G gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GATGCGGCATCA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgatgcggcatcaAGATCGAGACCCGACGC chr17:80274718-Reference-G;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Reference G gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt ACGCAACCAAGT CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacgcaaccaagtAGATCGAGACCCGACGC chr17:80274718-Reference-G;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Reference G gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CTAGTTCGCGCA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAActagttcgcgcaAGATCGAGACCCGACGC chr17:80274718-Reference-G;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Reference G gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt ACAAGGTAGAAG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacaaggtagaagAGATCGAGACCCGACGC chr17:80274718-Reference-G;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative T gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CGGCGAGAACTA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcggcgagaactaAGATCGAGACCCGACGC chr17:80274718-Alternative-T;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Reference G gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GGTAGACCGTAC CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccGtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAggtagaccgtacAGATCGAGACCCGACGC chr17:80274718-Reference-G;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative T gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt AGACGACTGTGG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAagacgactgtggAGATCGAGACCCGACGC chr17:80274718-Alternative-T;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative T gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt ATATGACTCGGT CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAatatgactcggtAGATCGAGACCCGACGC chr17:80274718-Alternative-T;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Variant A gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GTCGCTTCATCG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgtcgcttcatcgAGATCGAGACCCGACGC chr17:80274718-Variant-A;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Variant A gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GATGAGTCCATT CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgatgagtccattAGATCGAGACCCGACGC chr17:80274718-Variant-A;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Variant A gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CTGCTGTGAATA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAActgctgtgaataAGATCGAGACCCGACGC chr17:80274718-Variant-A;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative T gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CGCGCTCGATAA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcgcgctcgataaAGATCGAGACCCGACGC chr17:80274718-Alternative-T;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative T gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CTTATGATAGCG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccTtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAActtatgatagcgAGATCGAGACCCGACGC chr17:80274718-Alternative-T;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Variant A gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt CAGACTTCTTGT CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcagacttcttgtAGATCGAGACCCGACGC chr17:80274718-Variant-A;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative C gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GTGTAAGGTCGG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgtgtaaggtcggAGATCGAGACCCGACGC chr17:80274718-Alternative-C;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative C gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GACTGACGGTCA CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgactgacggtcaAGATCGAGACCCGACGC chr17:80274718-Alternative-C;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Variant A gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt ATAACAGACGAC CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccAtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAataacagacgacAGATCGAGACCCGACGC chr17:80274718-Variant-A;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative C gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt AGATAGGATTCG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAagataggattcgAGATCGAGACCCGACGC chr17:80274718-Alternative-C;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative C gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GGAACGACATCG CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAggaacgacatcgAGATCGAGACCCGACGC chr17:80274718-Alternative-C;Patient-60 chr17:80274718-GA DeNovo Patient-60 synonymous CD7 1.8e-05 0.000148 NA NA NA CD7 761 Alternative C gagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggt GTCCGTGCTAAC CGACGCGGTCTCTCTCTgagaagtcgatgcggccccggaaccgtctgtccgtagtgggcaccaccccCtcctcgtagtaaatgatgtcttggggctgtggcccgagctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgtccgtgctaacAGATCGAGACCCGACGC chr17:80274718-Alternative-C;Patient-60 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Reference G aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa ACATCATTCGAC CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAacatcattcgacAGATCGAGACCCGACGC chr17:80993563-Reference-G;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative T aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GCGGCTTATGCA CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgcggcttatgcaAGATCGAGACCCGACGC chr17:80993563-Alternative-T;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative C aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa ACAGGTATGCTT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAacaggtatgcttAGATCGAGACCCGACGC chr17:80993563-Alternative-C;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative T aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GAATTGTGGTCG CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgaattgtggtcgAGATCGAGACCCGACGC chr17:80993563-Alternative-T;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Reference G aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AGTGTAGCCTGG CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAagtgtagcctggAGATCGAGACCCGACGC chr17:80993563-Reference-G;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Reference G aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa ACGTAGACCGAA CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAacgtagaccgaaAGATCGAGACCCGACGC chr17:80993563-Reference-G;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Reference G aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GCGTAGACGAAG CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgcgtagacgaagAGATCGAGACCCGACGC chr17:80993563-Reference-G;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Variant A aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AATCGTTGGCTT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAaatcgttggcttAGATCGAGACCCGACGC chr17:80993563-Variant-A;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Reference G aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AGCAACTGAGAT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaGtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAagcaactgagatAGATCGAGACCCGACGC chr17:80993563-Reference-G;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative T aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa CGCCATCAACGT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAcgccatcaacgtAGATCGAGACCCGACGC chr17:80993563-Alternative-T;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative C aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GGTCTGACGTGT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAggtctgacgtgtAGATCGAGACCCGACGC chr17:80993563-Alternative-C;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative C aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa CGCGAACGAACT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAcgcgaacgaactAGATCGAGACCCGACGC chr17:80993563-Alternative-C;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative T aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GTAATCGGCCGT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgtaatcggccgtAGATCGAGACCCGACGC chr17:80993563-Alternative-T;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Variant A aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GTACCAGGAGCT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgtaccaggagctAGATCGAGACCCGACGC chr17:80993563-Variant-A;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative C aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa ACCGGTGGTAAC CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAaccggtggtaacAGATCGAGACCCGACGC chr17:80993563-Alternative-C;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative C aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa CTGAATGCCGGT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaCtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAActgaatgccggtAGATCGAGACCCGACGC chr17:80993563-Alternative-C;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Variant A aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AGCTTAACGAGA CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAagcttaacgagaAGATCGAGACCCGACGC chr17:80993563-Variant-A;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Variant A aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AAGATACCGCCT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAaagataccgcctAGATCGAGACCCGACGC chr17:80993563-Variant-A;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Variant A aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa GTCGCTCTTACG CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaAtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAgtcgctcttacgAGATCGAGACCCGACGC chr17:80993563-Variant-A;Patient-87 chr17:80993563-GA Inherited Patient-87 intronic B3GNTL1 NA 4.95e-05 0.24 6.41 2.23 B3GNTL1 16122 Alternative T aaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaa AGGTAACAGCTT CGACGCGGTCTCTCTCTaaagtctgacactcactgaaggaaaaaaaaatgagatggacctttactgaTtacagcactaagctaagtcctgggaatatttttttaaacaaaattaaaaAGAGGGAGACGGACGTCTCAATAAaggtaacagcttAGATCGAGACCCGACGC chr17:80993563-Alternative-T;Patient-87 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Reference A tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AGGAGTCCGGTT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAaggagtccggttAGATCGAGACCCGACGC chr17:8537170-Reference-A;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative C tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GCCGCGTTCATA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAgccgcgttcataAGATCGAGACCCGACGC chr17:8537170-Alternative-C;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative C tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt CTTGCGTCAACG CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAActtgcgtcaacgAGATCGAGACCCGACGC chr17:8537170-Alternative-C;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative C tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AACCGCTCCGAA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAaaccgctccgaaAGATCGAGACCCGACGC chr17:8537170-Alternative-C;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Reference A tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GACAGTTAGCAT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAgacagttagcatAGATCGAGACCCGACGC chr17:8537170-Reference-A;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative C tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt CACGTCCTAGCT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAcacgtcctagctAGATCGAGACCCGACGC chr17:8537170-Alternative-C;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative C tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt ACTTCTACGGAT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaCtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAacttctacggatAGATCGAGACCCGACGC chr17:8537170-Alternative-C;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Reference A tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GGAGTAATACCA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAggagtaataccaAGATCGAGACCCGACGC chr17:8537170-Reference-A;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Reference A tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GGCTCACGATGT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAggctcacgatgtAGATCGAGACCCGACGC chr17:8537170-Reference-A;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Variant G tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AGTAAGCCGGAC CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAagtaagccggacAGATCGAGACCCGACGC chr17:8537170-Variant-G;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Variant G tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GGATCACGACCA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAggatcacgaccaAGATCGAGACCCGACGC chr17:8537170-Variant-G;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative T tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt CGGTATTAATCG CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAcggtattaatcgAGATCGAGACCCGACGC chr17:8537170-Alternative-T;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative T tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AGCATACGCTTA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAagcatacgcttaAGATCGAGACCCGACGC chr17:8537170-Alternative-T;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Variant G tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GTCGTAGGAGGT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAgtcgtaggaggtAGATCGAGACCCGACGC chr17:8537170-Variant-G;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative T tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt CTCGCTTGCCAT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAActcgcttgccatAGATCGAGACCCGACGC chr17:8537170-Alternative-T;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative T tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AGTGTTGCGAAT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAagtgttgcgaatAGATCGAGACCCGACGC chr17:8537170-Alternative-T;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Variant G tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt ACGTGGTCGAAG CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAacgtggtcgaagAGATCGAGACCCGACGC chr17:8537170-Variant-G;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Alternative T tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt GTCAACGCGTGA CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaTtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAgtcaacgcgtgaAGATCGAGACCCGACGC chr17:8537170-Alternative-T;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Variant G tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AAGCGTAAGAAG CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaGtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAaagcgtaagaagAGATCGAGACCCGACGC chr17:8537170-Variant-G;Patient-68 chr17:8537170-AG Inherited Patient-68 intergenic 0.00035 0.001025641 -0.01 2.54 -1.61 MYH10 3090 Reference A tgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccatt AATAGCCTGACT CGACGCGGTCTCTCTCTtgttttgttccatctgtacaggatatacagcattttttaaaaaaaattgaAtgaattccaacatttaaaaaccaagcactatcccatatcattagccattAGAGGGAGACGGACGTCTCAATAAaatagcctgactAGATCGAGACCCGACGC chr17:8537170-Reference-A;Patient-68 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Variant T gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CACTGAAGCCTT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAcactgaagccttAGATCGAGACCCGACGC chr17:8926107-Variant-T;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Variant T gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CGAGATTCGTCC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAcgagattcgtccAGATCGAGACCCGACGC chr17:8926107-Variant-T;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Variant T gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc ACAGCGGATTCA CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAacagcggattcaAGATCGAGACCCGACGC chr17:8926107-Variant-T;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative A gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GCGAATGCCGAT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgcgaatgccgatAGATCGAGACCCGACGC chr17:8926107-Alternative-A;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative G gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CTTGATGTGGAT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAActtgatgtggatAGATCGAGACCCGACGC chr17:8926107-Alternative-G;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative A gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GTGTCGCAGTCA CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgtgtcgcagtcaAGATCGAGACCCGACGC chr17:8926107-Alternative-A;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative G gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GAGATGTTGAGT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgagatgttgagtAGATCGAGACCCGACGC chr17:8926107-Alternative-G;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative A gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GACCTAGATACG CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgacctagatacgAGATCGAGACCCGACGC chr17:8926107-Alternative-A;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative A gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CGAATACCAACC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAcgaataccaaccAGATCGAGACCCGACGC chr17:8926107-Alternative-A;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative G gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GAGCAACCTGAG CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgagcaacctgagAGATCGAGACCCGACGC chr17:8926107-Alternative-G;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Variant T gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GTGTTAATGTCG CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgtgttaatgtcgAGATCGAGACCCGACGC chr17:8926107-Variant-T;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative G gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc ATAGGACGATAC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAataggacgatacAGATCGAGACCCGACGC chr17:8926107-Alternative-G;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Variant T gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GTTCCTAGCGAC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggTaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgttcctagcgacAGATCGAGACCCGACGC chr17:8926107-Variant-T;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative G gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CAACCGAACACG CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggGaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAcaaccgaacacgAGATCGAGACCCGACGC chr17:8926107-Alternative-G;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Alternative A gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GGCCGATATCGT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggAaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAggccgatatcgtAGATCGAGACCCGACGC chr17:8926107-Alternative-A;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Reference C gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc CGCGATCAGCAA CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAcgcgatcagcaaAGATCGAGACCCGACGC chr17:8926107-Reference-C;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Reference C gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc GTTGTACTCCGC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAgttgtactccgcAGATCGAGACCCGACGC chr17:8926107-Reference-C;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Reference C gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc ACCACGCTAGGT CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAaccacgctaggtAGATCGAGACCCGACGC chr17:8926107-Reference-C;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Reference C gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc AAGTTATACGCG CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAaagttatacgcgAGATCGAGACCCGACGC chr17:8926107-Reference-C;Patient-25 chr17:8926107-CT DeNovo Patient-25 synonymous NTN1 NA 4.95e-05 1.29 14.9 4.87 NTN1 1247 Reference C gagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggc ACTGCGTTGCAC CGACGCGGTCTCTCTCTgagaactacctgcagttcccgcacaacgtcacgctcacactgtccctcggCaagaagttcgaagtgacctacgtgagcctgcagttctgctcgccgcggcAGAGGGAGACGGACGTCTCAATAAactgcgttgcacAGATCGAGACCCGACGC chr17:8926107-Reference-C;Patient-25 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative A ctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc CGATCAGCGAGA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAcgatcagcgagaAGATCGAGACCCGACGC chr17:947958-Alternative-A;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative A ctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc ACGCTCATTGAA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAacgctcattgaaAGATCGAGACCCGACGC chr17:947958-Alternative-A;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Reference C ctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc ATACGATAGACG CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAatacgatagacgAGATCGAGACCCGACGC chr17:947958-Reference-C;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Reference C ctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AGGAACGTGATT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaggaacgtgattAGATCGAGACCCGACGC chr17:947958-Reference-C;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative A ctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AGCAAGTTCGTT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAagcaagttcgttAGATCGAGACCCGACGC chr17:947958-Alternative-A;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Reference C ctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc GAATCTTGGTAC CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAgaatcttggtacAGATCGAGACCCGACGC chr17:947958-Reference-C;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Reference C ctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc GTTCCTATGGTT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAgttcctatggttAGATCGAGACCCGACGC chr17:947958-Reference-C;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Variant T ctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AGGAGGATCTTA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaggaggatcttaAGATCGAGACCCGACGC chr17:947958-Variant-T;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative G ctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AAGGACACTCTT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaaggacactcttAGATCGAGACCCGACGC chr17:947958-Alternative-G;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative A ctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc GTTAACCAAGTC CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAgttaaccaagtcAGATCGAGACCCGACGC chr17:947958-Alternative-A;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative A ctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AAGCGGTTGTGC CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaAtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaagcggttgtgcAGATCGAGACCCGACGC chr17:947958-Alternative-A;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Reference C ctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc GCGTTCTTCCGA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaCtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAgcgttcttccgaAGATCGAGACCCGACGC chr17:947958-Reference-C;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative G ctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc CAAGGTTATCGT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAcaaggttatcgtAGATCGAGACCCGACGC chr17:947958-Alternative-G;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Variant T ctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AACCGGCACGAA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaaccggcacgaaAGATCGAGACCCGACGC chr17:947958-Variant-T;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative G ctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc CAACATCAACCG CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAcaacatcaaccgAGATCGAGACCCGACGC chr17:947958-Alternative-G;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative G ctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AAGACCTTAGCT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAaagaccttagctAGATCGAGACCCGACGC chr17:947958-Alternative-G;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Variant T ctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc ATCCGTAGGATA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAatccgtaggataAGATCGAGACCCGACGC chr17:947958-Variant-T;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Variant T ctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc CGCCTATTCTAA CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAcgcctattctaaAGATCGAGACCCGACGC chr17:947958-Variant-T;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Variant T ctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc AGTCTAGGCTAT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaTtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAagtctaggctatAGATCGAGACCCGACGC chr17:947958-Variant-T;Patient-71 chr17:947958-CT DeNovo Patient-71 intronic ABR NA 9.9e-05 0.2 5.9 2.37 TIMM22 47600 Alternative G ctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttc ATATGGCGGCGT CGACGCGGTCTCTCTCTctcttccggccaaacccccaggaatcccctccttttattcattccttctaGtggccttgcttgcagctccccgccacccctgctgaggctcctgactttcAGAGGGAGACGGACGTCTCAATAAatatggcggcgtAGATCGAGACCCGACGC chr17:947958-Alternative-G;Patient-71 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative C aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AGATGGCATGTT CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAagatggcatgttAGATCGAGACCCGACGC chr17:9525188-Alternative-C;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Reference A aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtgg CTCGCAATAGCG CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAActcgcaatagcgAGATCGAGACCCGACGC chr17:9525188-Reference-A;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative C aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AGTCTCTTGCAT CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAagtctcttgcatAGATCGAGACCCGACGC chr17:9525188-Alternative-C;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative C aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtgg CGCAGTTAACGA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAcgcagttaacgaAGATCGAGACCCGACGC chr17:9525188-Alternative-C;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Reference A aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtgg ACTCATAGGTTC CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAactcataggttcAGATCGAGACCCGACGC chr17:9525188-Reference-A;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Reference A aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtgg GTCGAACTAGAA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAgtcgaactagaaAGATCGAGACCCGACGC chr17:9525188-Reference-A;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative T aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AACGCGGCTCTA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAaacgcggctctaAGATCGAGACCCGACGC chr17:9525188-Alternative-T;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Variant G aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtgg CGTATATCGTGA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAcgtatatcgtgaAGATCGAGACCCGACGC chr17:9525188-Variant-G;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative C aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtgg CGCGACATGGAA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAcgcgacatggaaAGATCGAGACCCGACGC chr17:9525188-Alternative-C;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative C aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtgg ACACGTTGCACA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggCgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAacacgttgcacaAGATCGAGACCCGACGC chr17:9525188-Alternative-C;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative T aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtgg GCCGAATCACCA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAgccgaatcaccaAGATCGAGACCCGACGC chr17:9525188-Alternative-T;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative T aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AGGTTGCCGAAT CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAaggttgccgaatAGATCGAGACCCGACGC chr17:9525188-Alternative-T;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative T aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtgg CTCGGAGCATGT CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAActcggagcatgtAGATCGAGACCCGACGC chr17:9525188-Alternative-T;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Variant G aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AGCCGCAAGAAG CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAagccgcaagaagAGATCGAGACCCGACGC chr17:9525188-Variant-G;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Reference A aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtgg GATACACGCTAA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAgatacacgctaaAGATCGAGACCCGACGC chr17:9525188-Reference-A;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Alternative T aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AGGCGTACCACA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggTgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAaggcgtaccacaAGATCGAGACCCGACGC chr17:9525188-Alternative-T;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Variant G aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtgg GACTAGTGCGCA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAgactagtgcgcaAGATCGAGACCCGACGC chr17:9525188-Variant-G;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Variant G aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtgg ATCGCAGCTAAC CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAatcgcagctaacAGATCGAGACCCGACGC chr17:9525188-Variant-G;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Variant G aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtgg ACTAGTACTCGA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggGgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAactagtactcgaAGATCGAGACCCGACGC chr17:9525188-Variant-G;Patient-103 chr17:9525188-AG DeNovo Patient-103 intronic CFAP52 NA 0.000346432 0.07 3.71 0 CFAP52 45243 Reference A aggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtgg AACCACAACGAA CGACGCGGTCTCTCTCTaggaaggggaatatcacactctggggactgtggtggggtcgggggaggggAgagggatagcattgggagatatacctaatgctagatgacacgttagtggAGAGGGAGACGGACGTCTCAATAAaaccacaacgaaAGATCGAGACCCGACGC chr17:9525188-Reference-A;Patient-103 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative G ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GGTCTGAGAACG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAggtctgagaacgAGATCGAGACCCGACGC chr18:11063208-Alternative-G;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Variant T ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GTACCGTTAAGA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgtaccgttaagaAGATCGAGACCCGACGC chr18:11063208-Variant-T;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Variant T ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa ACCTACTTATGC CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAacctacttatgcAGATCGAGACCCGACGC chr18:11063208-Variant-T;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative G ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa AGACGCAAGCTA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAagacgcaagctaAGATCGAGACCCGACGC chr18:11063208-Alternative-G;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative G ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GCGCGTATTGAC CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgcgcgtattgacAGATCGAGACCCGACGC chr18:11063208-Alternative-G;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative G ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa ATACCGTAGGTT CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAataccgtaggttAGATCGAGACCCGACGC chr18:11063208-Alternative-G;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Variant T ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GACATATGCGAC CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgacatatgcgacAGATCGAGACCCGACGC chr18:11063208-Variant-T;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Reference C ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GGACACTTCTGA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAggacacttctgaAGATCGAGACCCGACGC chr18:11063208-Reference-C;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative A ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa AGAGTAGTGACG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAagagtagtgacgAGATCGAGACCCGACGC chr18:11063208-Alternative-A;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Variant T ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GGTTGACGATAA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAggttgacgataaAGATCGAGACCCGACGC chr18:11063208-Variant-T;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Variant T ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GACCATAATCGT CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaTtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgaccataatcgtAGATCGAGACCCGACGC chr18:11063208-Variant-T;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative A ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa CATTCTGAGACA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAcattctgagacaAGATCGAGACCCGACGC chr18:11063208-Alternative-A;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative G ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GCCTTCCATAGT CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaGtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgccttccatagtAGATCGAGACCCGACGC chr18:11063208-Alternative-G;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative A ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GGTCGCGCATTA CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAggtcgcgcattaAGATCGAGACCCGACGC chr18:11063208-Alternative-A;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative A ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GCCTTATGACGG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgccttatgacggAGATCGAGACCCGACGC chr18:11063208-Alternative-A;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Reference C ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GATATCGATAGG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgatatcgataggAGATCGAGACCCGACGC chr18:11063208-Reference-C;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Alternative A ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa ACGAATTGATCG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaAtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAacgaattgatcgAGATCGAGACCCGACGC chr18:11063208-Alternative-A;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Reference C ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa CTTGTTCTCGCG CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAActtgttctcgcgAGATCGAGACCCGACGC chr18:11063208-Reference-C;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Reference C ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa GTTGGTGTAACT CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAgttggtgtaactAGATCGAGACCCGACGC chr18:11063208-Reference-C;Patient-16 chr18:11063208-CT DeNovo Patient-16 intronic PIEZO2 NA 4.95e-05 -0.1 1.43 0 PIEZO2 85552 Reference C ttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaa ATTGTGACTCCT CGACGCGGTCTCTCTCTttctcagcaaactatcacaaggaccaaaaaacaaacaccacatgtcctcaCtcataggtgggaattgaacaatgagaacacatggacataggaaggggaaAGAGGGAGACGGACGTCTCAATAAattgtgactcctAGATCGAGACCCGACGC chr18:11063208-Reference-C;Patient-16 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative G atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GCCGATACCAAG CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgccgataccaagAGATCGAGACCCGACGC chr18:11096717-Alternative-G;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative G atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GATATTCAACGG CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgatattcaacggAGATCGAGACCCGACGC chr18:11096717-Alternative-G;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative G atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc ACTAGGCCAATT CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAactaggccaattAGATCGAGACCCGACGC chr18:11096717-Alternative-G;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative G atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc AAGATGGACGAA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAaagatggacgaaAGATCGAGACCCGACGC chr18:11096717-Alternative-G;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Variant C atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CACGATCTGTAA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcacgatctgtaaAGATCGAGACCCGACGC chr18:11096717-Variant-C;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative T atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GAGAGCATTCCT CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgagagcattcctAGATCGAGACCCGACGC chr18:11096717-Alternative-T;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative G atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GACTAACCGGTT CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaGgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgactaaccggttAGATCGAGACCCGACGC chr18:11096717-Alternative-G;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative T atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GGTCTTGGCGAA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAggtcttggcgaaAGATCGAGACCCGACGC chr18:11096717-Alternative-T;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative T atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GTCGGCGAGTAA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgtcggcgagtaaAGATCGAGACCCGACGC chr18:11096717-Alternative-T;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Reference A atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CAACTCGTTAAC CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcaactcgttaacAGATCGAGACCCGACGC chr18:11096717-Reference-A;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative T atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GCAAGATTCGCA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgcaagattcgcaAGATCGAGACCCGACGC chr18:11096717-Alternative-T;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Reference A atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CATGTTAGTAGG CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcatgttagtaggAGATCGAGACCCGACGC chr18:11096717-Reference-A;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Reference A atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc ACGAAGCAGAAG CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAacgaagcagaagAGATCGAGACCCGACGC chr18:11096717-Reference-A;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Reference A atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GTGTCCGTTGCT CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgtgtccgttgctAGATCGAGACCCGACGC chr18:11096717-Reference-A;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Variant C atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GTACGAGATCGC CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgtacgagatcgcAGATCGAGACCCGACGC chr18:11096717-Variant-C;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Variant C atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CGACAGATTCGA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcgacagattcgaAGATCGAGACCCGACGC chr18:11096717-Variant-C;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Variant C atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CAAGTAGTGCAC CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcaagtagtgcacAGATCGAGACCCGACGC chr18:11096717-Variant-C;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Reference A atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GATGCAACTCTA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaAgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgatgcaactctaAGATCGAGACCCGACGC chr18:11096717-Reference-A;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Alternative T atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc GAGTTAGCCTAA CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaTgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAgagttagcctaaAGATCGAGACCCGACGC chr18:11096717-Alternative-T;Patient-62 chr18:11096717-AC DeNovo Patient-62 intronic PIEZO2 NA 4.95e-05 -0.18 0.8 -3.78 PIEZO2 52043 Variant C atctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctc CGTAGTTAGGTT CGACGCGGTCTCTCTCTatctacctcttgtctttcaaggagatatatctaaaaactgtggaagtgaaCgacattaggagagaagggacagtgagttgcctagtcgcctacatagctcAGAGGGAGACGGACGTCTCAATAAcgtagttaggttAGATCGAGACCCGACGC chr18:11096717-Variant-C;Patient-62 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative C accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GTTCTGTCGCAC CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAgttctgtcgcacAGATCGAGACCCGACGC chr18:11128620-Alternative-C;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative C accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGAATGGATAAC CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcgaatggataacAGATCGAGACCCGACGC chr18:11128620-Alternative-C;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Variant A accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag ACAGGTATTCGT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAacaggtattcgtAGATCGAGACCCGACGC chr18:11128620-Variant-A;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative C accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GGTAGATCGTTA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAggtagatcgttaAGATCGAGACCCGACGC chr18:11128620-Alternative-C;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative C accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GCCAAGTACAAG CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAgccaagtacaagAGATCGAGACCCGACGC chr18:11128620-Alternative-C;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Variant A accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GCCAAGATATCG CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAgccaagatatcgAGATCGAGACCCGACGC chr18:11128620-Variant-A;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Variant A accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GTCAATCATGCA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAgtcaatcatgcaAGATCGAGACCCGACGC chr18:11128620-Variant-A;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Variant A accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag AGATCGGCGCTT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAagatcggcgcttAGATCGAGACCCGACGC chr18:11128620-Variant-A;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative C accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GGATGACGAATT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcCctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAggatgacgaattAGATCGAGACCCGACGC chr18:11128620-Alternative-C;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Variant A accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGGCTTGAGTCT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcActgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcggcttgagtctAGATCGAGACCCGACGC chr18:11128620-Variant-A;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative T accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGCACCATGAGA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcgcaccatgagaAGATCGAGACCCGACGC chr18:11128620-Alternative-T;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative T accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GGACAGCTAACG CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAggacagctaacgAGATCGAGACCCGACGC chr18:11128620-Alternative-T;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Reference G accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag ACGACTGACAGT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAacgactgacagtAGATCGAGACCCGACGC chr18:11128620-Reference-G;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Reference G accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GGTGGCCGATAA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAggtggccgataaAGATCGAGACCCGACGC chr18:11128620-Reference-G;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Reference G accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CAGCGTAGCAGA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcagcgtagcagaAGATCGAGACCCGACGC chr18:11128620-Reference-G;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Reference G accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGATCAGTCGAC CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcgatcagtcgacAGATCGAGACCCGACGC chr18:11128620-Reference-G;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Reference G accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag AATCGCTCTAAG CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcGctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAaatcgctctaagAGATCGAGACCCGACGC chr18:11128620-Reference-G;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative T accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGGACTTCAGCT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcggacttcagctAGATCGAGACCCGACGC chr18:11128620-Alternative-T;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative T accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag GATTGTCGACTA CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAgattgtcgactaAGATCGAGACCCGACGC chr18:11128620-Alternative-T;Patient-101 chr18:11128620-GA DeNovo Patient-101 intronic PIEZO2 3.2e-05 0.000148 -0.14 1.08 0.15 PIEZO2 20140 Alternative T accacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaag CGCCAACACGTT CGACGCGGTCTCTCTCTaccacgctgccatcagcctttccacctttgtctgaggacataaaccctgcTctgcctgaggcaacagtgatggcctcccctgaagcagtttctaggcaagAGAGGGAGACGGACGTCTCAATAAcgccaacacgttAGATCGAGACCCGACGC chr18:11128620-Alternative-T;Patient-101 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative A gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc ACCGTGTGATAT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAaccgtgtgatatAGATCGAGACCCGACGC chr18:11141991-Alternative-A;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative G gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GGACCTCATCTT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAggacctcatcttAGATCGAGACCCGACGC chr18:11141991-Alternative-G;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative A gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AGCTGATGGTAA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAagctgatggtaaAGATCGAGACCCGACGC chr18:11141991-Alternative-A;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Reference T gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc ACGCCAACAGGT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAacgccaacaggtAGATCGAGACCCGACGC chr18:11141991-Reference-T;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative A gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AGGCGGCGATAA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAaggcggcgataaAGATCGAGACCCGACGC chr18:11141991-Alternative-A;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Reference T gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc CTTGGTGGAAGG CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAActtggtggaaggAGATCGAGACCCGACGC chr18:11141991-Reference-T;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative A gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AGACCGAAGATT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAagaccgaagattAGATCGAGACCCGACGC chr18:11141991-Alternative-A;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Variant C gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc ACTTGCGAACCG CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAacttgcgaaccgAGATCGAGACCCGACGC chr18:11141991-Variant-C;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative G gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc ACACGCGGATGT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAacacgcggatgtAGATCGAGACCCGACGC chr18:11141991-Alternative-G;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative A gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GTTACGTCCTAT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaAatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAgttacgtcctatAGATCGAGACCCGACGC chr18:11141991-Alternative-A;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Variant C gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc CTCAACCAGGCA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAActcaaccaggcaAGATCGAGACCCGACGC chr18:11141991-Variant-C;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative G gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AATGTCGAGACA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAaatgtcgagacaAGATCGAGACCCGACGC chr18:11141991-Alternative-G;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Variant C gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GTCGACGTGGAA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAgtcgacgtggaaAGATCGAGACCCGACGC chr18:11141991-Variant-C;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative G gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc CGCGATACTCGA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAcgcgatactcgaAGATCGAGACCCGACGC chr18:11141991-Alternative-G;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Reference T gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AATGCACTCACA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAaatgcactcacaAGATCGAGACCCGACGC chr18:11141991-Reference-T;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Alternative G gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GGATAGCGTATA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaGatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAggatagcgtataAGATCGAGACCCGACGC chr18:11141991-Alternative-G;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Variant C gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc CGAAGTATTGAG CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAcgaagtattgagAGATCGAGACCCGACGC chr18:11141991-Variant-C;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Variant C gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GCAACTAAGTCA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaCatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAgcaactaagtcaAGATCGAGACCCGACGC chr18:11141991-Variant-C;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Reference T gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc GGTTAAGGTACA CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAggttaaggtacaAGATCGAGACCCGACGC chr18:11141991-Reference-T;Patient-79 chr18:11141991-TC DeNovo Patient-79 intronic PIEZO2 NA 4.95e-05 -0.02 2.28 -2.23 PIEZO2 6769 Reference T gaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgc AAGGCCGCGTAT CGACGCGGTCTCTCTCTgaccaaatccatcccttttttataaaatatatttataatttgcaagttcaTatacaaaaggagtttaaatatgtccatccacaatatcctagtttaatgcAGAGGGAGACGGACGTCTCAATAAaaggccgcgtatAGATCGAGACCCGACGC chr18:11141991-Reference-T;Patient-79 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Reference C taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CTATATCGGCGG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAActatatcggcggAGATCGAGACCCGACGC chr18:12309722-Reference-C;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative G taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GTGTCTCACGTC CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAgtgtctcacgtcAGATCGAGACCCGACGC chr18:12309722-Alternative-G;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Reference C taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg AGTATCCGCTAA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAagtatccgctaaAGATCGAGACCCGACGC chr18:12309722-Reference-C;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative A taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GACGGTTAGTGG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAgacggttagtggAGATCGAGACCCGACGC chr18:12309722-Alternative-A;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Reference C taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GCATCAGATAGG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAgcatcagataggAGATCGAGACCCGACGC chr18:12309722-Reference-C;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative A taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg AGTGTAGGCTAA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAagtgtaggctaaAGATCGAGACCCGACGC chr18:12309722-Alternative-A;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative G taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg ATCAATAAGCGG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAatcaataagcggAGATCGAGACCCGACGC chr18:12309722-Alternative-G;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative A taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CGGCTAGCAATC CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAcggctagcaatcAGATCGAGACCCGACGC chr18:12309722-Alternative-A;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative A taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg AGCAGGCCAAGA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAagcaggccaagaAGATCGAGACCCGACGC chr18:12309722-Alternative-A;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative A taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CGTTATTCATCG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaAtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAcgttattcatcgAGATCGAGACCCGACGC chr18:12309722-Alternative-A;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Reference C taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CGCGATATTGAG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAcgcgatattgagAGATCGAGACCCGACGC chr18:12309722-Reference-C;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Reference C taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg ACCATGGATCCA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaCtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAaccatggatccaAGATCGAGACCCGACGC chr18:12309722-Reference-C;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative G taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CTCTCTTCGCGA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAActctcttcgcgaAGATCGAGACCCGACGC chr18:12309722-Alternative-G;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative G taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg ACTCTAAGTACG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAactctaagtacgAGATCGAGACCCGACGC chr18:12309722-Alternative-G;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Alternative G taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GTAACTACGCAG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaGtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAgtaactacgcagAGATCGAGACCCGACGC chr18:12309722-Alternative-G;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Variant T taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg ATCGAGCCTATC CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAatcgagcctatcAGATCGAGACCCGACGC chr18:12309722-Variant-T;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Variant T taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg AGCGTTGTCCGA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAagcgttgtccgaAGATCGAGACCCGACGC chr18:12309722-Variant-T;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Variant T taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GACGTCAGTTCG CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAgacgtcagttcgAGATCGAGACCCGACGC chr18:12309722-Variant-T;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Variant T taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg CGTAATCGATGT CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAcgtaatcgatgtAGATCGAGACCCGACGC chr18:12309722-Variant-T;Patient-35 chr18:12309722-CT DeNovo Patient-35 intronic TUBB6 NA 4.95e-05 -0.11 1.3 -5.42 TUBB6 1464 Variant T taatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccg GGCAATATCCGA CGACGCGGTCTCTCTCTtaatccctcacccagcttgggtacatccattttcgatcttggcgagtgcaTtgcaggacaggagttgaagagcaggtcctatctggaatcatattaaccgAGAGGGAGACGGACGTCTCAATAAggcaatatccgaAGATCGAGACCCGACGC chr18:12309722-Variant-T;Patient-35 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative G cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ACGAACGAGCAT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAacgaacgagcatAGATCGAGACCCGACGC chr18:13946863-Alternative-G;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Variant T cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt AATGATCGCTGT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAaatgatcgctgtAGATCGAGACCCGACGC chr18:13946863-Variant-T;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative G cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt AAGATTGTGCAG CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAaagattgtgcagAGATCGAGACCCGACGC chr18:13946863-Alternative-G;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative G cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ATCGCGTCTATT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAatcgcgtctattAGATCGAGACCCGACGC chr18:13946863-Alternative-G;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Variant T cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt AACTCGTCATGA CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAaactcgtcatgaAGATCGAGACCCGACGC chr18:13946863-Variant-T;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative G cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GGAGATAACGAC CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAggagataacgacAGATCGAGACCCGACGC chr18:13946863-Alternative-G;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative G cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GAGATAAGTCGT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctGagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAgagataagtcgtAGATCGAGACCCGACGC chr18:13946863-Alternative-G;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Variant T cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt CGTTCTGACGAG CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAcgttctgacgagAGATCGAGACCCGACGC chr18:13946863-Variant-T;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative A cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt AGTCTAGATCGT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAagtctagatcgtAGATCGAGACCCGACGC chr18:13946863-Alternative-A;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative A cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GTCTCTCGAGCT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAgtctctcgagctAGATCGAGACCCGACGC chr18:13946863-Alternative-A;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Reference C cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ATCAATCGAGGT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAatcaatcgaggtAGATCGAGACCCGACGC chr18:13946863-Reference-C;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Variant T cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GGTTACTCGATA CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAggttactcgataAGATCGAGACCCGACGC chr18:13946863-Variant-T;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Variant T cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GACATCTCTTGT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctTagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAgacatctcttgtAGATCGAGACCCGACGC chr18:13946863-Variant-T;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative A cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt GATACAACCAGA CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAgatacaaccagaAGATCGAGACCCGACGC chr18:13946863-Alternative-A;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Reference C cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ACGGCCATAACG CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAacggccataacgAGATCGAGACCCGACGC chr18:13946863-Reference-C;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Reference C cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ATTAAGCAACGG CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAattaagcaacggAGATCGAGACCCGACGC chr18:13946863-Reference-C;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative A cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt CAGCAAGTCTAT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAcagcaagtctatAGATCGAGACCCGACGC chr18:13946863-Alternative-A;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Alternative A cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt ATAGGCGTAAGA CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctAagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAataggcgtaagaAGATCGAGACCCGACGC chr18:13946863-Alternative-A;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Reference C cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt CATCGTGGCGTT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAcatcgtggcgttAGATCGAGACCCGACGC chr18:13946863-Reference-C;Patient-87 chr18:13946863-CT Inherited Patient-87 intergenic 0.000414 0.000512821 0.05 3.39 0 MC2R 31327 Reference C cttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaatttt AGTCAGCTTCTT CGACGCGGTCTCTCTCTcttggctcactgcaacctccacctcccagattcaagcaattctcctgtctCagcctcccaagtagctgggactacaggggtgcaccagcgtgctaattttAGAGGGAGACGGACGTCTCAATAAagtcagcttcttAGATCGAGACCCGACGC chr18:13946863-Reference-C;Patient-87 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative C aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatc GCGCTGACAAGT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgcgctgacaagtAGATCGAGACCCGACGC chr18:145102-Alternative-C;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Variant A aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatc AACGTTGAACAG CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAaacgttgaacagAGATCGAGACCCGACGC chr18:145102-Variant-A;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative C aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatc GCAGAACGGTCA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgcagaacggtcaAGATCGAGACCCGACGC chr18:145102-Alternative-C;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative C aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatc GCCTTGATGACC CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgccttgatgaccAGATCGAGACCCGACGC chr18:145102-Alternative-C;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Variant A aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatc ATATGCCGACAT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAatatgccgacatAGATCGAGACCCGACGC chr18:145102-Variant-A;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative C aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatc GGAAGTTAGCTT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAggaagttagcttAGATCGAGACCCGACGC chr18:145102-Alternative-C;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Variant A aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatc AGTACTACAAGG CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAagtactacaaggAGATCGAGACCCGACGC chr18:145102-Variant-A;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Variant A aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatc CGATCACGGCTT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAcgatcacggcttAGATCGAGACCCGACGC chr18:145102-Variant-A;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative C aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatc AGGTTATCAACC CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttCttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAaggttatcaaccAGATCGAGACCCGACGC chr18:145102-Alternative-C;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Variant A aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatc GACCAATAGACA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttAttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgaccaatagacaAGATCGAGACCCGACGC chr18:145102-Variant-A;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Reference G aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatc CAAGGAAGTGCG CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAcaaggaagtgcgAGATCGAGACCCGACGC chr18:145102-Reference-G;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Reference G aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatc AGGCGATAGACA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAaggcgatagacaAGATCGAGACCCGACGC chr18:145102-Reference-G;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Reference G aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatc GACGCTGGTTGT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgacgctggttgtAGATCGAGACCCGACGC chr18:145102-Reference-G;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative T aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatc ATCGCTAGCGGT CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAatcgctagcggtAGATCGAGACCCGACGC chr18:145102-Alternative-T;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Reference G aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatc ACAGACTAACAG CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAacagactaacagAGATCGAGACCCGACGC chr18:145102-Reference-G;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Reference G aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatc ACCTATCGTAGA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttGttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAacctatcgtagaAGATCGAGACCCGACGC chr18:145102-Reference-G;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative T aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatc GATCCTGCAATA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAgatcctgcaataAGATCGAGACCCGACGC chr18:145102-Alternative-T;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative T aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatc AGTCTCTGTGCG CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAagtctctgtgcgAGATCGAGACCCGACGC chr18:145102-Alternative-T;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative T aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatc CGTCGTAACATA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAcgtcgtaacataAGATCGAGACCCGACGC chr18:145102-Alternative-T;Patient-82 chr18:145102-GA DeNovo Patient-82 intergenic 3.3e-05 0.000513 0.1 4.24 0.63 USP14 13380 Alternative T aatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatc GGAACAGCTTAA CGACGCGGTCTCTCTCTaatatcctgattttggtagttgtcctatggttatacaagtgaatgttcttTttcttacggaataacactgatttatttagagctaaatatacatcatatcAGAGGGAGACGGACGTCTCAATAAggaacagcttaaAGATCGAGACCCGACGC chr18:145102-Alternative-T;Patient-82 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Reference G tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CGATCGTAACGA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAcgatcgtaacgaAGATCGAGACCCGACGC chr18:18642651-Reference-G;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Reference G tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CGAATTGCGTCG CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAcgaattgcgtcgAGATCGAGACCCGACGC chr18:18642651-Reference-G;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Reference G tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt AGACGCACCGTT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAagacgcaccgttAGATCGAGACCCGACGC chr18:18642651-Reference-G;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Reference G tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CACGTGATAGTT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAcacgtgatagttAGATCGAGACCCGACGC chr18:18642651-Reference-G;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative T tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt AGGAACGTATAC CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAaggaacgtatacAGATCGAGACCCGACGC chr18:18642651-Alternative-T;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative T tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GATTCAACGCGC CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgattcaacgcgcAGATCGAGACCCGACGC chr18:18642651-Alternative-T;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Reference G tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GACGGCACAACA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaGcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgacggcacaacaAGATCGAGACCCGACGC chr18:18642651-Reference-G;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative T tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt ACTGGTTCAGAT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAactggttcagatAGATCGAGACCCGACGC chr18:18642651-Alternative-T;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Variant A tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GCGCTCTAATAT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgcgctctaatatAGATCGAGACCCGACGC chr18:18642651-Variant-A;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Variant A tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagt ATCGCGAACCTA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAatcgcgaacctaAGATCGAGACCCGACGC chr18:18642651-Variant-A;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative C tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GATGCTCAAGTT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgatgctcaagttAGATCGAGACCCGACGC chr18:18642651-Alternative-C;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Variant A tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagt AAGATGGTTGGT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAaagatggttggtAGATCGAGACCCGACGC chr18:18642651-Variant-A;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative T tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CTGGTAGATAGA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAActggtagatagaAGATCGAGACCCGACGC chr18:18642651-Alternative-T;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative T tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GTGCCGACCTAA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaTcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgtgccgacctaaAGATCGAGACCCGACGC chr18:18642651-Alternative-T;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative C tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt AGGAATGGACGG CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAaggaatggacggAGATCGAGACCCGACGC chr18:18642651-Alternative-C;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Variant A tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CGACGATGTACG CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAcgacgatgtacgAGATCGAGACCCGACGC chr18:18642651-Variant-A;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Variant A tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagt ACCGGTATAGAA CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaActtgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAaccggtatagaaAGATCGAGACCCGACGC chr18:18642651-Variant-A;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative C tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt CAAGCTCTGAAC CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAcaagctctgaacAGATCGAGACCCGACGC chr18:18642651-Alternative-C;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative C tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt ACGATTCCTAAG CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAacgattcctaagAGATCGAGACCCGACGC chr18:18642651-Alternative-C;Patient-84 chr18:18642651-GA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.01 2.72 -0.26 ROCK1 49160 Alternative C tcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagt GATGCGAACATT CGACGCGGTCTCTCTCTtcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaaCcttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtAGAGGGAGACGGACGTCTCAATAAgatgcgaacattAGATCGAGACCCGACGC chr18:18642651-Alternative-C;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative T cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CTGGTAGCTCGA CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAActggtagctcgaAGATCGAGACCCGACGC chr18:18642652-Alternative-T;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative G cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg ACTTAGTCCGGC CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAacttagtccggcAGATCGAGACCCGACGC chr18:18642652-Alternative-G;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Variant A cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GAGAGCATCGAC CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAgagagcatcgacAGATCGAGACCCGACGC chr18:18642652-Variant-A;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative G cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CAGGTGATTAAG CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAcaggtgattaagAGATCGAGACCCGACGC chr18:18642652-Alternative-G;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative T cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg ACAGGTCTGGTT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAacaggtctggttAGATCGAGACCCGACGC chr18:18642652-Alternative-T;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative G cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GGTAGACCGCTT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAggtagaccgcttAGATCGAGACCCGACGC chr18:18642652-Alternative-G;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative G cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CGTCCAGATGCA CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAcgtccagatgcaAGATCGAGACCCGACGC chr18:18642652-Alternative-G;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative T cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg ACTATGCGTAAG CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAactatgcgtaagAGATCGAGACCCGACGC chr18:18642652-Alternative-T;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative T cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CTCAATTATCGG CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAActcaattatcggAGATCGAGACCCGACGC chr18:18642652-Alternative-T;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative G cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GGTGAGGTTAAT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagGttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAggtgaggttaatAGATCGAGACCCGACGC chr18:18642652-Alternative-G;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Alternative T cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GACAAGCCGACT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagTttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAgacaagccgactAGATCGAGACCCGACGC chr18:18642652-Alternative-T;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Variant A cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg AACGCGCGGTAT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAaacgcgcggtatAGATCGAGACCCGACGC chr18:18642652-Variant-A;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Variant A cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg ATCTCTCAACGT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAatctctcaacgtAGATCGAGACCCGACGC chr18:18642652-Variant-A;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Variant A cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GATTCGGCGCAA CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAgattcggcgcaaAGATCGAGACCCGACGC chr18:18642652-Variant-A;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Variant A cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg AGGTGGACGGAA CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagAttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAaggtggacggaaAGATCGAGACCCGACGC chr18:18642652-Variant-A;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Reference C cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CTATTCGTGCAG CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAActattcgtgcagAGATCGAGACCCGACGC chr18:18642652-Reference-C;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Reference C cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GATGCGCTAGGT CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAgatgcgctaggtAGATCGAGACCCGACGC chr18:18642652-Reference-C;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Reference C cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg AGGCTTGTGGAG CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAaggcttgtggagAGATCGAGACCCGACGC chr18:18642652-Reference-C;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Reference C cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg CGCGTGTTCTAC CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAcgcgtgttctacAGATCGAGACCCGACGC chr18:18642652-Reference-C;Patient-84 chr18:18642652-CA Inherited Patient-84 intronic ROCK1 0.000255 0.000198 0.35 7.85 0.13 ROCK1 49159 Reference C cccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtg GATCGAGTTCTA CGACGCGGTCTCTCTCTcccctccacagcgtttggaaaaagaaaatggtaacttactagtggagaagCttgccagacactaccttaaaccaaatgataagcgttaacatcaccagtgAGAGGGAGACGGACGTCTCAATAAgatcgagttctaAGATCGAGACCCGACGC chr18:18642652-Reference-C;Patient-84 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Reference T tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatga GGCGTCGTGTTA CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAggcgtcgtgttaAGATCGAGACCCGACGC chr18:21303301-Reference-T;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Variant C tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatga CGACGACAACAG CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAcgacgacaacagAGATCGAGACCCGACGC chr18:21303301-Variant-C;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Reference T tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatga CAGATGCTCATT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAcagatgctcattAGATCGAGACCCGACGC chr18:21303301-Reference-T;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Reference T tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatga GTATTGTTCCGA CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAgtattgttccgaAGATCGAGACCCGACGC chr18:21303301-Reference-T;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative G tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatga ACCTGTGCTGAG CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAacctgtgctgagAGATCGAGACCCGACGC chr18:21303301-Alternative-G;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Variant C tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatga ATTCACGGTATC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAattcacggtatcAGATCGAGACCCGACGC chr18:21303301-Variant-C;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Variant C tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatga ATTACGTTCGTC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAattacgttcgtcAGATCGAGACCCGACGC chr18:21303301-Variant-C;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Variant C tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatga GGATCAATCGGC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAggatcaatcggcAGATCGAGACCCGACGC chr18:21303301-Variant-C;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative G tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatga CTGTTCGGACAG CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAActgttcggacagAGATCGAGACCCGACGC chr18:21303301-Alternative-G;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative A tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatga CGATGCATCCGA CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAcgatgcatccgaAGATCGAGACCCGACGC chr18:21303301-Alternative-A;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative G tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatga ACGTGAGCTGAA CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAacgtgagctgaaAGATCGAGACCCGACGC chr18:21303301-Alternative-G;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative G tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatga CTCTGATGACGC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAActctgatgacgcAGATCGAGACCCGACGC chr18:21303301-Alternative-G;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Reference T tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatga ACTAGTCACGGT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAactagtcacggtAGATCGAGACCCGACGC chr18:21303301-Reference-T;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Reference T tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatga GTCTCGCGCATT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgTccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAgtctcgcgcattAGATCGAGACCCGACGC chr18:21303301-Reference-T;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative A tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatga GGCAATAACGGC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAggcaataacggcAGATCGAGACCCGACGC chr18:21303301-Alternative-A;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative G tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatga GGATGTGCAGGT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgGccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAggatgtgcaggtAGATCGAGACCCGACGC chr18:21303301-Alternative-G;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative A tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatga ACTCAACATCGA CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAactcaacatcgaAGATCGAGACCCGACGC chr18:21303301-Alternative-A;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Variant C tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatga ATTGTGCGAATC CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgCccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAattgtgcgaatcAGATCGAGACCCGACGC chr18:21303301-Variant-C;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative A tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatga GCGCTCGTCAAT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAgcgctcgtcaatAGATCGAGACCCGACGC chr18:21303301-Alternative-A;Patient-6 chr18:21303301-TC DeNovo Patient-6 intronic LAMA3 NA 4.19e-05 0.72 11.27 2.19 LAMA3 33738 Alternative A tactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatga AGCGCTATAACT CGACGCGGTCTCTCTCTtactcaccaaagcattataaaaatagcatccagtgggaaacaatctcatgAccaataaaaggggactgactcagttagtggattaataggcaccacatgaAGAGGGAGACGGACGTCTCAATAAagcgctataactAGATCGAGACCCGACGC chr18:21303301-Alternative-A;Patient-6 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Variant G catttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CGTATATGGTAC CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAcgtatatggtacAGATCGAGACCCGACGC chr18:23626695-Variant-G;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Variant G catttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CGATTACAGGAT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAcgattacaggatAGATCGAGACCCGACGC chr18:23626695-Variant-G;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative T catttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GCAGGTAGGATA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAgcaggtaggataAGATCGAGACCCGACGC chr18:23626695-Alternative-T;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative T catttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AGACGATACAAC CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAagacgatacaacAGATCGAGACCCGACGC chr18:23626695-Alternative-T;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Variant G catttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GCGATGTGATAA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAgcgatgtgataaAGATCGAGACCCGACGC chr18:23626695-Variant-G;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Variant G catttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CTCTTCGAGACA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAActcttcgagacaAGATCGAGACCCGACGC chr18:23626695-Variant-G;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative T catttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GGTAGGTCTTCG CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAggtaggtcttcgAGATCGAGACCCGACGC chr18:23626695-Alternative-T;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative T catttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GACGAACGACAC CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAgacgaacgacacAGATCGAGACCCGACGC chr18:23626695-Alternative-T;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Variant G catttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GGATATCGTAAC CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattGtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAggatatcgtaacAGATCGAGACCCGACGC chr18:23626695-Variant-G;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative C catttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AAGGCCGGATCA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAaaggccggatcaAGATCGAGACCCGACGC chr18:23626695-Alternative-C;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative T catttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GTCGTGCGACAT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattTtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAgtcgtgcgacatAGATCGAGACCCGACGC chr18:23626695-Alternative-T;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Reference A catttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AGCCAACCTGGT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAagccaacctggtAGATCGAGACCCGACGC chr18:23626695-Reference-A;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative C catttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CGCCGGTTGATT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAcgccggttgattAGATCGAGACCCGACGC chr18:23626695-Alternative-C;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative C catttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AAGTGCGACGCA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAaagtgcgacgcaAGATCGAGACCCGACGC chr18:23626695-Alternative-C;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Reference A catttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AAGTTCGTGGTT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAaagttcgtggttAGATCGAGACCCGACGC chr18:23626695-Reference-A;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative C catttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AGTTCAAGCGAT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAagttcaagcgatAGATCGAGACCCGACGC chr18:23626695-Alternative-C;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Alternative C catttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CACGTAGACATT CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattCtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAcacgtagacattAGATCGAGACCCGACGC chr18:23626695-Alternative-C;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Reference A catttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag AAGGCTAGGCGA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAaaggctaggcgaAGATCGAGACCCGACGC chr18:23626695-Reference-A;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Reference A catttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag CTTACTAACCGG CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAActtactaaccggAGATCGAGACCCGACGC chr18:23626695-Reference-A;Patient-94 chr18:23626695-AG DeNovo Patient-94 intronic SS18 NA 4.95e-05 NA NA NA SS18 43915 Reference A catttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaag GGCTGACGTTCA CGACGCGGTCTCTCTCTcatttctttgttgcacttttatctatgttggccaagtccctctttcaattAtccaggtttgtaaaatctcatataggtttactgctgggagccaaggaagAGAGGGAGACGGACGTCTCAATAAggctgacgttcaAGATCGAGACCCGACGC chr18:23626695-Reference-A;Patient-94 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Variant C gcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ACTCGTAGCATA CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAactcgtagcataAGATCGAGACCCGACGC chr18:24244618-Variant-C;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Variant C gcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg CAACTCCGTATT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAcaactccgtattAGATCGAGACCCGACGC chr18:24244618-Variant-C;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Variant C gcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ACTACGGCGTTC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAactacggcgttcAGATCGAGACCCGACGC chr18:24244618-Variant-C;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative G gcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GTCGAGTCGACT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgtcgagtcgactAGATCGAGACCCGACGC chr18:24244618-Alternative-G;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative G gcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ACCATTGAATCG CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAaccattgaatcgAGATCGAGACCCGACGC chr18:24244618-Alternative-G;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Reference T gcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GCGGTTAATCGC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgcggttaatcgcAGATCGAGACCCGACGC chr18:24244618-Reference-T;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative G gcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GACATATGCTGT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgacatatgctgtAGATCGAGACCCGACGC chr18:24244618-Alternative-G;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Reference T gcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg CAGGTAGAACAC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAcaggtagaacacAGATCGAGACCCGACGC chr18:24244618-Reference-T;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative A gcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GAGCACACCAAC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgagcacaccaacAGATCGAGACCCGACGC chr18:24244618-Alternative-A;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Reference T gcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ATCCTACGAGAT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAatcctacgagatAGATCGAGACCCGACGC chr18:24244618-Reference-T;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative G gcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GTGCTCTCTTAA CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgtgctctcttaaAGATCGAGACCCGACGC chr18:24244618-Alternative-G;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Reference T gcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg CGGAGTATAAGT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAcggagtataagtAGATCGAGACCCGACGC chr18:24244618-Reference-T;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative G gcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg CGTAAGCGTTAT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaGtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAcgtaagcgttatAGATCGAGACCCGACGC chr18:24244618-Alternative-G;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Variant C gcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg AAGGCTGTTCGG CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAaaggctgttcggAGATCGAGACCCGACGC chr18:24244618-Variant-C;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative A gcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ATAGCGATTAGG CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAatagcgattaggAGATCGAGACCCGACGC chr18:24244618-Alternative-A;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Reference T gcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg GCGTCTTCGAAC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaTtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAgcgtcttcgaacAGATCGAGACCCGACGC chr18:24244618-Reference-T;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative A gcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg CAGACGATTATC CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAcagacgattatcAGATCGAGACCCGACGC chr18:24244618-Alternative-A;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative A gcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ATTCGCACCGAA CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAattcgcaccgaaAGATCGAGACCCGACGC chr18:24244618-Alternative-A;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Alternative A gcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ACGACTTGCAAT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaAtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAacgacttgcaatAGATCGAGACCCGACGC chr18:24244618-Alternative-A;Patient-25 chr18:24244618-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.15 5.07 0.91 KCTD1 7252 Variant C gcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttg ACATCGCACATT CGACGCGGTCTCTCTCTgcattattatactcctattattcattatttccccaaggcaagggcaagcaCtactgcaggttttcttcctatagtaaagcctacttaaagatgtcttttgAGAGGGAGACGGACGTCTCAATAAacatcgcacattAGATCGAGACCCGACGC chr18:24244618-Variant-C;Patient-25 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Variant G gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACTTACGTCAGT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAacttacgtcagtAGATCGAGACCCGACGC chr18:25734309-Variant-G;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Variant G gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ATAGCTCGTAGT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAatagctcgtagtAGATCGAGACCCGACGC chr18:25734309-Variant-G;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative T gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CGATAGTTCGCG CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcgatagttcgcgAGATCGAGACCCGACGC chr18:25734309-Alternative-T;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative T gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CAGACTTACACT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcagacttacactAGATCGAGACCCGACGC chr18:25734309-Alternative-T;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative C gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CACGCTACATCA CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcacgctacatcaAGATCGAGACCCGACGC chr18:25734309-Alternative-C;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative T gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ATTGCGGTAGGT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAattgcggtaggtAGATCGAGACCCGACGC chr18:25734309-Alternative-T;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Variant G gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc GAATCTCGTCAA CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAgaatctcgtcaaAGATCGAGACCCGACGC chr18:25734309-Variant-G;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative C gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc GGATCATCTTCT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAggatcatcttctAGATCGAGACCCGACGC chr18:25734309-Alternative-C;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Reference A gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc AGACTGCGCTGA CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAagactgcgctgaAGATCGAGACCCGACGC chr18:25734309-Reference-A;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Reference A gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACGATCTAATCG CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAacgatctaatcgAGATCGAGACCCGACGC chr18:25734309-Reference-A;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Reference A gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc GGCTTCTCGAAG CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAggcttctcgaagAGATCGAGACCCGACGC chr18:25734309-Reference-A;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative C gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACGTACCGTGTT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAacgtaccgtgttAGATCGAGACCCGACGC chr18:25734309-Alternative-C;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative C gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CTCGTTGAGGAC CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAActcgttgaggacAGATCGAGACCCGACGC chr18:25734309-Alternative-C;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative C gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CAAGCAACCGCA CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccCgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcaagcaaccgcaAGATCGAGACCCGACGC chr18:25734309-Alternative-C;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative T gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACGGCTCCGATA CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAacggctccgataAGATCGAGACCCGACGC chr18:25734309-Alternative-T;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Reference A gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CGAGTTCAAGCG CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcgagttcaagcgAGATCGAGACCCGACGC chr18:25734309-Reference-A;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Reference A gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc CATTACTCATGC CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccAgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAcattactcatgcAGATCGAGACCCGACGC chr18:25734309-Reference-A;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Alternative T gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACCAAGGAACAC CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccTgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAaccaaggaacacAGATCGAGACCCGACGC chr18:25734309-Alternative-T;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Variant G gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc ACAGCTCTCGCT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAacagctctcgctAGATCGAGACCCGACGC chr18:25734309-Variant-G;Patient-73 chr18:25734309-AG DeNovo Patient-73 intronic CDH2 0.000127 9.9e-05 0.28 6.96 1.94 CDH2 23100 Variant G gcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctc GGTAGATTCGTT CGACGCGGTCTCTCTCTgcacaattcctcaaggatgacaagcagtcaacaagccctctcggcccaccGgcgtgaaattcacgctggtcagaggatctgaactcatttagtgccgctcAGAGGGAGACGGACGTCTCAATAAggtagattcgttAGATCGAGACCCGACGC chr18:25734309-Variant-G;Patient-73 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Reference G cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg ATTCACACCGTT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAattcacaccgttAGATCGAGACCCGACGC chr18:2577326-Reference-G;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative T cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GCGTTGACGTCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgcgttgacgtctAGATCGAGACCCGACGC chr18:2577326-Alternative-T;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative T cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GAGAGTAGTCGC CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgagagtagtcgcAGATCGAGACCCGACGC chr18:2577326-Alternative-T;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative T cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg ATTGAGAGCTGT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAattgagagctgtAGATCGAGACCCGACGC chr18:2577326-Alternative-T;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative T cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GATACGTCCTAA CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgatacgtcctaaAGATCGAGACCCGACGC chr18:2577326-Alternative-T;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Reference G cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GTTGGATTAGCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgttggattagctAGATCGAGACCCGACGC chr18:2577326-Reference-G;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative T cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GGCGACTTAAGG CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctTcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAggcgacttaaggAGATCGAGACCCGACGC chr18:2577326-Alternative-T;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Variant A cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GAATCGCTTCAA CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgaatcgcttcaaAGATCGAGACCCGACGC chr18:2577326-Variant-A;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Variant A cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GTTCAACGCGCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgttcaacgcgctAGATCGAGACCCGACGC chr18:2577326-Variant-A;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Variant A cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GGACGATCCTTC CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAggacgatccttcAGATCGAGACCCGACGC chr18:2577326-Variant-A;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Variant A cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GCGGTACAAGCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgcggtacaagctAGATCGAGACCCGACGC chr18:2577326-Variant-A;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative C cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GTTGACTCCGTC CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgttgactccgtcAGATCGAGACCCGACGC chr18:2577326-Alternative-C;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative C cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GCATGATCGCAT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgcatgatcgcatAGATCGAGACCCGACGC chr18:2577326-Alternative-C;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Reference G cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GTGGCTAAGCGT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgtggctaagcgtAGATCGAGACCCGACGC chr18:2577326-Reference-G;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Reference G cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg CAAGCAAGAGCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAcaagcaagagctAGATCGAGACCCGACGC chr18:2577326-Reference-G;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative C cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg AATAGTGGTCCT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAaatagtggtcctAGATCGAGACCCGACGC chr18:2577326-Alternative-C;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative C cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GTGTTCATCCAT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgtgttcatccatAGATCGAGACCCGACGC chr18:2577326-Alternative-C;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Reference G cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GCCAACAATAAG CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctGcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgccaacaataagAGATCGAGACCCGACGC chr18:2577326-Reference-G;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Variant A cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg CAATAAGCCAAC CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctAcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAcaataagccaacAGATCGAGACCCGACGC chr18:2577326-Variant-A;Patient-68 chr18:2577326-GA Inherited Patient-68 intronic NDC80 0.000176 9.9e-05 0.08 3.85 0.67 NDC80 5815 Alternative C cgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctg GAATGACTGCAT CGACGCGGTCTCTCTCTcgatctcagctcactgcaacctctgcctcgccagttcaagcaattctcctCcctcagcctcccgagtagctgggattacaggtgcctgccaacacgtctgAGAGGGAGACGGACGTCTCAATAAgaatgactgcatAGATCGAGACCCGACGC chr18:2577326-Alternative-C;Patient-68 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Variant G aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt ACGTTGACGTAA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAacgttgacgtaaAGATCGAGACCCGACGC chr18:2948451-Variant-G;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Variant G aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GGTATGTTAGCA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAggtatgttagcaAGATCGAGACCCGACGC chr18:2948451-Variant-G;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative T aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt ATCGGTTACGAT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAatcggttacgatAGATCGAGACCCGACGC chr18:2948451-Alternative-T;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative T aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CATTAAGCGACT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAcattaagcgactAGATCGAGACCCGACGC chr18:2948451-Alternative-T;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Variant G aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CTCTATAGATCG CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAActctatagatcgAGATCGAGACCCGACGC chr18:2948451-Variant-G;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative T aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CTAGGTCCGCTA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAActaggtccgctaAGATCGAGACCCGACGC chr18:2948451-Alternative-T;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Reference A aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GTAATCACGTAC CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgtaatcacgtacAGATCGAGACCCGACGC chr18:2948451-Reference-A;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Variant G aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GCAAGGCTCTGT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgcaaggctctgtAGATCGAGACCCGACGC chr18:2948451-Variant-G;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative T aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GCAATCCTATGA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgcaatcctatgaAGATCGAGACCCGACGC chr18:2948451-Alternative-T;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative T aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CTCATGAGGCGA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatTatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAActcatgaggcgaAGATCGAGACCCGACGC chr18:2948451-Alternative-T;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Variant G aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GTTATTCTAGCG CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatGatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgttattctagcgAGATCGAGACCCGACGC chr18:2948451-Variant-G;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Reference A aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt ATCTTGGATCGC CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAatcttggatcgcAGATCGAGACCCGACGC chr18:2948451-Reference-A;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative C aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GTGTCGCATAGT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgtgtcgcatagtAGATCGAGACCCGACGC chr18:2948451-Alternative-C;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative C aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CGTCGTCTTGAC CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAcgtcgtcttgacAGATCGAGACCCGACGC chr18:2948451-Alternative-C;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Reference A aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GCAGGTAACAAT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgcaggtaacaatAGATCGAGACCCGACGC chr18:2948451-Reference-A;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative C aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GTAGAGTATCAG CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAgtagagtatcagAGATCGAGACCCGACGC chr18:2948451-Alternative-C;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative C aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt AACGCGCGTACT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAaacgcgcgtactAGATCGAGACCCGACGC chr18:2948451-Alternative-C;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Reference A aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt CGTTCTGTGTGC CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAcgttctgtgtgcAGATCGAGACCCGACGC chr18:2948451-Reference-A;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Alternative C aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt GGTTATGGACTT CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatCatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAggttatggacttAGATCGAGACCCGACGC chr18:2948451-Alternative-C;Patient-91 chr18:2948451-AG Inherited Patient-91 intronic LPIN2 NA 4.95e-05 0.02 2.99 -3.58 LPIN2 63493 Reference A aatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaatt AGCATGACTCTA CGACGCGGTCTCTCTCTaatatttctgcaattggcttacaacattcgtttgcaaattcctttagaatAatgattcttgtacaatttagtagggaacttggcatatgttttagaaattAGAGGGAGACGGACGTCTCAATAAagcatgactctaAGATCGAGACCCGACGC chr18:2948451-Reference-A;Patient-91 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Reference C ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CAGCGGCAAGAT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAcagcggcaagatAGATCGAGACCCGACGC chr18:3198548-Reference-C;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Reference C ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GATAAGAGGTTC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgataagaggttcAGATCGAGACCCGACGC chr18:3198548-Reference-C;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Reference C ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CTCTCACAACAC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAActctcacaacacAGATCGAGACCCGACGC chr18:3198548-Reference-C;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative G ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CTCACGCCAATT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAActcacgccaattAGATCGAGACCCGACGC chr18:3198548-Alternative-G;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Reference C ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GATGCAACCTAT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgatgcaacctatAGATCGAGACCCGACGC chr18:3198548-Reference-C;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Variant T ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GAGGTGGTCTTC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgaggtggtcttcAGATCGAGACCCGACGC chr18:3198548-Variant-T;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative A ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CGATTGCTTCTA CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAcgattgcttctaAGATCGAGACCCGACGC chr18:3198548-Alternative-A;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Variant T ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CACACAACCACA CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAcacacaaccacaAGATCGAGACCCGACGC chr18:3198548-Variant-T;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative G ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GAGTTATACGCT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgagttatacgctAGATCGAGACCCGACGC chr18:3198548-Alternative-G;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative A ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag AGCGCTGCGATT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAagcgctgcgattAGATCGAGACCCGACGC chr18:3198548-Alternative-A;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative G ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag ATTGTAGTCCGA CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAattgtagtccgaAGATCGAGACCCGACGC chr18:3198548-Alternative-G;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Variant T ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CAATAGCTGGAA CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAcaatagctggaaAGATCGAGACCCGACGC chr18:3198548-Variant-T;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Reference C ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GTGTCTTACCGC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggCcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgtgtcttaccgcAGATCGAGACCCGACGC chr18:3198548-Reference-C;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative G ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GGCTGAACAACG CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAggctgaacaacgAGATCGAGACCCGACGC chr18:3198548-Alternative-G;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Variant T ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag GATGATGTGCGG CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAgatgatgtgcggAGATCGAGACCCGACGC chr18:3198548-Variant-T;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Variant T ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag CGCGTATCCAAC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggTcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAcgcgtatccaacAGATCGAGACCCGACGC chr18:3198548-Variant-T;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative G ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag ACGTAATGCCTA CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggGcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAacgtaatgcctaAGATCGAGACCCGACGC chr18:3198548-Alternative-G;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative A ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag ACGATGTACGTC CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAacgatgtacgtcAGATCGAGACCCGACGC chr18:3198548-Alternative-A;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative A ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag ATAGTCGATGAG CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAatagtcgatgagAGATCGAGACCCGACGC chr18:3198548-Alternative-A;Patient-40 chr18:3198548-CT DeNovo Patient-40 intronic MYOM1 NA 4.95e-05 0 2.56 0.5 MYOM1 21557 Alternative A ttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaag ACACGGCAGATT CGACGCGGTCTCTCTCTttatggccaggcgcagtggcttacacctgtaatctcagcactttgggaggAcgaggtgggtggatcaggaggtcaggagttcacgaccagcctggccaagAGAGGGAGACGGACGTCTCAATAAacacggcagattAGATCGAGACCCGACGC chr18:3198548-Alternative-A;Patient-40 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative T acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GTTCCGTCGCAT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgttccgtcgcatAGATCGAGACCCGACGC chr18:32034757-Alternative-T;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative T acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GAATGGTTCTGG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgaatggttctggAGATCGAGACCCGACGC chr18:32034757-Alternative-T;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Variant A acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt AAGGTTGAGTCA CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAaaggttgagtcaAGATCGAGACCCGACGC chr18:32034757-Variant-A;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative T acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt ATAAGCGTATGC CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAataagcgtatgcAGATCGAGACCCGACGC chr18:32034757-Alternative-T;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Reference G acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CTGCATATACGC CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAActgcatatacgcAGATCGAGACCCGACGC chr18:32034757-Reference-G;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Variant A acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt ATCCGTTATACG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAatccgttatacgAGATCGAGACCCGACGC chr18:32034757-Variant-A;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative T acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CATAAGACCGGC CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAcataagaccggcAGATCGAGACCCGACGC chr18:32034757-Alternative-T;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Reference G acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GTCGCATCCAAG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgtcgcatccaagAGATCGAGACCCGACGC chr18:32034757-Reference-G;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Variant A acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GGCAAGCATAAG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAggcaagcataagAGATCGAGACCCGACGC chr18:32034757-Variant-A;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative C acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GTCAAGTCGTCG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgtcaagtcgtcgAGATCGAGACCCGACGC chr18:32034757-Alternative-C;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Variant A acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CTGTTATCACGT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAActgttatcacgtAGATCGAGACCCGACGC chr18:32034757-Variant-A;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Reference G acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt ACTCGGTACACG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAactcggtacacgAGATCGAGACCCGACGC chr18:32034757-Reference-G;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative T acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GCCGTCGTTAAC CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcTctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgccgtcgttaacAGATCGAGACCCGACGC chr18:32034757-Alternative-T;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Variant A acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt AGTGTTCATCCT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcActactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAagtgttcatcctAGATCGAGACCCGACGC chr18:32034757-Variant-A;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative C acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CTTGACGAACAC CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAActtgacgaacacAGATCGAGACCCGACGC chr18:32034757-Alternative-C;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative C acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CAATAACGTAGG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAcaataacgtaggAGATCGAGACCCGACGC chr18:32034757-Alternative-C;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative C acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt CATGTCTGACTT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAcatgtctgacttAGATCGAGACCCGACGC chr18:32034757-Alternative-C;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Alternative C acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt AACCGTTGTGTT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcCctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAaaccgttgtgttAGATCGAGACCCGACGC chr18:32034757-Alternative-C;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Reference G acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GACAAGGTGTCG CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgacaaggtgtcgAGATCGAGACCCGACGC chr18:32034757-Reference-G;Patient-77 chr18:32034757-GA DeNovo Patient-77 intergenic 0.000609 0.00154 NA NA NA DTNA 38496 Reference G acaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagt GATTACGTGACT CGACGCGGTCTCTCTCTacaaggtcaagagatcgaggccatcctggccaacatggtaaaaccccatcGctactaaaaatacaaaaactagctgggcatggtggcatgtgcctgtagtAGAGGGAGACGGACGTCTCAATAAgattacgtgactAGATCGAGACCCGACGC chr18:32034757-Reference-G;Patient-77 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Variant C gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CGAGCACGGTAT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAcgagcacggtatAGATCGAGACCCGACGC chr18:33793884-Variant-C;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Variant C gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg AAGATCCGATCA CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAaagatccgatcaAGATCGAGACCCGACGC chr18:33793884-Variant-C;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Variant C gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GTACGACTTCTT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgtacgacttcttAGATCGAGACCCGACGC chr18:33793884-Variant-C;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Reference A gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg AGAGGTGTCACG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAagaggtgtcacgAGATCGAGACCCGACGC chr18:33793884-Reference-A;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Variant C gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CGTCGTGTAACG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAcgtcgtgtaacgAGATCGAGACCCGACGC chr18:33793884-Variant-C;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Reference A gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg ACTCACGGTAGG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAactcacggtaggAGATCGAGACCCGACGC chr18:33793884-Reference-A;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Variant C gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GGCGGATGCAAT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagCctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAggcggatgcaatAGATCGAGACCCGACGC chr18:33793884-Variant-C;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Reference A gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CTTACCGATTGA CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAActtaccgattgaAGATCGAGACCCGACGC chr18:33793884-Reference-A;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative T gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg AGACGTCAGATT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAagacgtcagattAGATCGAGACCCGACGC chr18:33793884-Alternative-T;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative T gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg ACTGAGCACGCA CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAactgagcacgcaAGATCGAGACCCGACGC chr18:33793884-Alternative-T;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Reference A gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg AATAGACCGGAT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAaatagaccggatAGATCGAGACCCGACGC chr18:33793884-Reference-A;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative T gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg ATTATAGCTCGG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAattatagctcggAGATCGAGACCCGACGC chr18:33793884-Alternative-T;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative T gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GATCGCTATAAG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgatcgctataagAGATCGAGACCCGACGC chr18:33793884-Alternative-T;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative G gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CGCAACCACAAG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAcgcaaccacaagAGATCGAGACCCGACGC chr18:33793884-Alternative-G;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative T gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CGGCTTACGTCA CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagTctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAcggcttacgtcaAGATCGAGACCCGACGC chr18:33793884-Alternative-T;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Reference A gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GCGACTCGCATA CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagActccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgcgactcgcataAGATCGAGACCCGACGC chr18:33793884-Reference-A;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative G gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GAAGTTGGTTCT CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgaagttggttctAGATCGAGACCCGACGC chr18:33793884-Alternative-G;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative G gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GTGATAGTGCGG CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgtgatagtgcggAGATCGAGACCCGACGC chr18:33793884-Alternative-G;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative G gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg GCGTCTATCGTC CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAgcgtctatcgtcAGATCGAGACCCGACGC chr18:33793884-Alternative-G;Patient-54 chr18:33793884-AC Inherited Patient-54 intronic MOCOS NA 4.95e-05 -0.09 1.5 0.15 MOCOS 26403 Alternative G gtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacg CAGAGCGACTTC CGACGCGGTCTCTCTCTgtgagccgagatcgcaccattgcactccagtgcctgggtgacagagcaagGctccatccccctccaaccaaagaaaaaaaaaaagaagaagccgggcacgAGAGGGAGACGGACGTCTCAATAAcagagcgacttcAGATCGAGACCCGACGC chr18:33793884-Alternative-G;Patient-54 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative A gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CAAGTCCGGCAA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAcaagtccggcaaAGATCGAGACCCGACGC chr18:3491508-Alternative-A;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative A gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GGCTGACACCAT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAggctgacaccatAGATCGAGACCCGACGC chr18:3491508-Alternative-A;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative A gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTTGTGAGCGAG CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgttgtgagcgagAGATCGAGACCCGACGC chr18:3491508-Alternative-A;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Reference C gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTGTCGTCCAAG CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgtgtcgtccaagAGATCGAGACCCGACGC chr18:3491508-Reference-C;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Reference C gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GATATACCGTGT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgatataccgtgtAGATCGAGACCCGACGC chr18:3491508-Reference-C;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Reference C gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTAGAGCTAGCG CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgtagagctagcgAGATCGAGACCCGACGC chr18:3491508-Reference-C;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Reference C gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CTAGACGACGAA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAActagacgacgaaAGATCGAGACCCGACGC chr18:3491508-Reference-C;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative A gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GCCTTCGACTTA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgccttcgacttaAGATCGAGACCCGACGC chr18:3491508-Alternative-A;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Reference C gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CGGCGTAGTAGA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctCcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAcggcgtagtagaAGATCGAGACCCGACGC chr18:3491508-Reference-C;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative A gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CATGTTGGCGCT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctAcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAcatgttggcgctAGATCGAGACCCGACGC chr18:3491508-Alternative-A;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative G gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CAGCGATATCAT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAcagcgatatcatAGATCGAGACCCGACGC chr18:3491508-Alternative-G;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Variant T gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt AAGCACCAACGC CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAaagcaccaacgcAGATCGAGACCCGACGC chr18:3491508-Variant-T;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Variant T gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CTTGCGCGCTAA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAActtgcgcgctaaAGATCGAGACCCGACGC chr18:3491508-Variant-T;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative G gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GCACGACCAGAA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgcacgaccagaaAGATCGAGACCCGACGC chr18:3491508-Alternative-G;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative G gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GCAGTAAGTACC CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgcagtaagtaccAGATCGAGACCCGACGC chr18:3491508-Alternative-G;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Variant T gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt CTGCTATTACCA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAActgctattaccaAGATCGAGACCCGACGC chr18:3491508-Variant-T;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Variant T gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTGCTCAGGTAC CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgtgctcaggtacAGATCGAGACCCGACGC chr18:3491508-Variant-T;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative G gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GCAACGCTGGAA CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgcaacgctggaaAGATCGAGACCCGACGC chr18:3491508-Alternative-G;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Variant T gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTCAAGCATTGT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctTcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgtcaagcattgtAGATCGAGACCCGACGC chr18:3491508-Variant-T;Patient-61 chr18:3491508-CT Inherited Patient-61 intergenic NA 0.000513 -0.21 0.66 -1.13 TGIF1 79582 Alternative G gactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggt GTAGGATGCCGT CGACGCGGTCTCTCTCTgactgaattcaaatactagctctgtcacttgccaggaaccttgggagcctGcctaagagctctgtaattcacttgcagtgaccacctcatagcacagggtAGAGGGAGACGGACGTCTCAATAAgtaggatgccgtAGATCGAGACCCGACGC chr18:3491508-Alternative-G;Patient-61 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative C gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GATCGTGAGAAG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgatcgtgagaagAGATCGAGACCCGACGC chr18:42187854-Alternative-C;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative C gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc AGAACCGATAGG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAagaaccgataggAGATCGAGACCCGACGC chr18:42187854-Alternative-C;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Variant T gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc CGATACTTGCTT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAcgatacttgcttAGATCGAGACCCGACGC chr18:42187854-Variant-T;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Reference A gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GCAAGTATACGT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgcaagtatacgtAGATCGAGACCCGACGC chr18:42187854-Reference-A;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Reference A gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GAGATAACGGAA CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgagataacggaaAGATCGAGACCCGACGC chr18:42187854-Reference-A;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Reference A gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc CTCAATCGAACT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAActcaatcgaactAGATCGAGACCCGACGC chr18:42187854-Reference-A;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative C gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc CTCGCTAATTCG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAActcgctaattcgAGATCGAGACCCGACGC chr18:42187854-Alternative-C;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative C gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc ATTAAGCTGCCA CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAattaagctgccaAGATCGAGACCCGACGC chr18:42187854-Alternative-C;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative C gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GATGCTAATGAG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagCaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgatgctaatgagAGATCGAGACCCGACGC chr18:42187854-Alternative-C;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Reference A gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc ACTTCGGCAACG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAacttcggcaacgAGATCGAGACCCGACGC chr18:42187854-Reference-A;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Variant T gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc AACAAGATTCGG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAaacaagattcggAGATCGAGACCCGACGC chr18:42187854-Variant-T;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Variant T gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc AAGCATAGACGC CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAaagcatagacgcAGATCGAGACCCGACGC chr18:42187854-Variant-T;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Variant T gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc ACCTTAACCAAG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAaccttaaccaagAGATCGAGACCCGACGC chr18:42187854-Variant-T;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Reference A gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc ACGTGCCAGACT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagAaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAacgtgccagactAGATCGAGACCCGACGC chr18:42187854-Reference-A;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Variant T gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GCCGCAGCATAT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagTaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgccgcagcatatAGATCGAGACCCGACGC chr18:42187854-Variant-T;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative G gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GAATATATCGCG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgaatatatcgcgAGATCGAGACCCGACGC chr18:42187854-Alternative-G;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative G gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GTTCACGTGTGG CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgttcacgtgtggAGATCGAGACCCGACGC chr18:42187854-Alternative-G;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative G gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc ACCGTTGTACTA CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAaccgttgtactaAGATCGAGACCCGACGC chr18:42187854-Alternative-G;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative G gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc GACTACTCCGTC CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAgactactccgtcAGATCGAGACCCGACGC chr18:42187854-Alternative-G;Patient-52 chr18:42187854-AT DeNovo Patient-52 intergenic NA 0.000513 0.21 6.03 2.57 SETBP1 72283 Alternative G gtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgc CAAGCGATTCAT CGACGCGGTCTCTCTCTgtagaagctcaaccaaggtgaagctgttgtacttaaaacaaaagaaggagGaacagcatcaactttatggatgtcattctgagtgcattgcatgtattgcAGAGGGAGACGGACGTCTCAATAAcaagcgattcatAGATCGAGACCCGACGC chr18:42187854-Alternative-G;Patient-52 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Reference T gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgat CTTATCGGCGAG CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAActtatcggcgagAGATCGAGACCCGACGC chr18:42192921-Reference-T;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative A gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgat GACGATCGGTTC CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAgacgatcggttcAGATCGAGACCCGACGC chr18:42192921-Alternative-A;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Variant G gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgat CGAACAGCGTTC CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAcgaacagcgttcAGATCGAGACCCGACGC chr18:42192921-Variant-G;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative A gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgat GAGATGATGGTT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAgagatgatggttAGATCGAGACCCGACGC chr18:42192921-Alternative-A;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Reference T gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgat GACCGGTTAATT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAgaccggttaattAGATCGAGACCCGACGC chr18:42192921-Reference-T;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Variant G gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgat AGAACGCTCAGT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAagaacgctcagtAGATCGAGACCCGACGC chr18:42192921-Variant-G;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Variant G gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgat GGAGAAGATGAT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAggagaagatgatAGATCGAGACCCGACGC chr18:42192921-Variant-G;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Reference T gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgat CGCAATAGGTTA CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAcgcaataggttaAGATCGAGACCCGACGC chr18:42192921-Reference-T;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Reference T gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgat CGCGAGAATGGT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAcgcgagaatggtAGATCGAGACCCGACGC chr18:42192921-Reference-T;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Variant G gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgat CTATCGTTGACT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAActatcgttgactAGATCGAGACCCGACGC chr18:42192921-Variant-G;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Reference T gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgat CTTAGGAGCGCT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacTctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAActtaggagcgctAGATCGAGACCCGACGC chr18:42192921-Reference-T;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative A gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgat GCGTCGAGTGTT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAgcgtcgagtgttAGATCGAGACCCGACGC chr18:42192921-Alternative-A;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Variant G gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgat CTGTTCCACTAA CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacGctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAActgttccactaaAGATCGAGACCCGACGC chr18:42192921-Variant-G;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative A gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgat CGCAGCAATCGT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAcgcagcaatcgtAGATCGAGACCCGACGC chr18:42192921-Alternative-A;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative A gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgat AACCAACGACCG CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacActttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAaaccaacgaccgAGATCGAGACCCGACGC chr18:42192921-Alternative-A;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative C gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgat AGTTGTGCAGTT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAagttgtgcagttAGATCGAGACCCGACGC chr18:42192921-Alternative-C;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative C gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgat ATCGCGTCATAA CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAatcgcgtcataaAGATCGAGACCCGACGC chr18:42192921-Alternative-C;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative C gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgat CGCAAGCCTGAT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAcgcaagcctgatAGATCGAGACCCGACGC chr18:42192921-Alternative-C;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative C gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgat ACTTGAAGCGAT CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAacttgaagcgatAGATCGAGACCCGACGC chr18:42192921-Alternative-C;Patient-39 chr18:42192921-TG DeNovo Patient-39 intergenic NA 0.000512821 0.2 5.89 2.23 SETBP1 67216 Alternative C gaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgat GAGCTGAACAAC CGACGCGGTCTCTCTCTgaggaagccagacccttaccctctccatcaatatcccctaaaccccaaacCctttcaaggaatgggacagttacatggctcttctcattttctccatgatAGAGGGAGACGGACGTCTCAATAAgagctgaacaacAGATCGAGACCCGACGC chr18:42192921-Alternative-C;Patient-39 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Reference C gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg CTTGACGAGTTA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAActtgacgagttaAGATCGAGACCCGACGC chr18:43747141-Reference-C;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative G gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GCGCACGAAGAA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgcgcacgaagaaAGATCGAGACCCGACGC chr18:43747141-Alternative-G;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative G gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ACGCACGCGTAA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAacgcacgcgtaaAGATCGAGACCCGACGC chr18:43747141-Alternative-G;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative G gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GAGATCTGCCGA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgagatctgccgaAGATCGAGACCCGACGC chr18:43747141-Alternative-G;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Variant T gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg AATAGCGTGTTC CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAaatagcgtgttcAGATCGAGACCCGACGC chr18:43747141-Variant-T;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative G gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg AACGCATTGAGA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAaacgcattgagaAGATCGAGACCCGACGC chr18:43747141-Alternative-G;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative G gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ACACGGACCATC CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaGgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAacacggaccatcAGATCGAGACCCGACGC chr18:43747141-Alternative-G;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative A gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GTAATGCACCAT CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgtaatgcaccatAGATCGAGACCCGACGC chr18:43747141-Alternative-A;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Reference C gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg CACGTGTAGTTA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAcacgtgtagttaAGATCGAGACCCGACGC chr18:43747141-Reference-C;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative A gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ATCGGTGTTCGG CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAatcggtgttcggAGATCGAGACCCGACGC chr18:43747141-Alternative-A;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Reference C gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ACCTACGAATCA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAacctacgaatcaAGATCGAGACCCGACGC chr18:43747141-Reference-C;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Variant T gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GTGCGAATTCTA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgtgcgaattctaAGATCGAGACCCGACGC chr18:43747141-Variant-T;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Variant T gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg CGCGATCGTAGA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAcgcgatcgtagaAGATCGAGACCCGACGC chr18:43747141-Variant-T;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative A gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GACGACGTATAA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgacgacgtataaAGATCGAGACCCGACGC chr18:43747141-Alternative-A;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative A gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ACGGCTCCAACA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAacggctccaacaAGATCGAGACCCGACGC chr18:43747141-Alternative-A;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Alternative A gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GACCTATACGAG CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaAgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgacctatacgagAGATCGAGACCCGACGC chr18:43747141-Alternative-A;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Reference C gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GTAACGACGAGA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgtaacgacgagaAGATCGAGACCCGACGC chr18:43747141-Reference-C;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Reference C gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ATCGTTAGGCGC CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaCgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAatcgttaggcgcAGATCGAGACCCGACGC chr18:43747141-Reference-C;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Variant T gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg GTTACCACCGTC CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAgttaccaccgtcAGATCGAGACCCGACGC chr18:43747141-Variant-T;Patient-34 chr18:43747141-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 -0.41 0.16 -1.09 PSTPIP2 94890 Variant T gccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggagg ACGCTGGAACGA CGACGCGGTCTCTCTCTgccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctagaTgtggtggtgggcgcctgtagtttcagctacttgggaggcttaagggaggAGAGGGAGACGGACGTCTCAATAAacgctggaacgaAGATCGAGACCCGACGC chr18:43747141-Variant-T;Patient-34 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative G ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GGTTGCGGACAT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAggttgcggacatAGATCGAGACCCGACGC chr18:44788856-Alternative-G;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Reference C ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag ACCAATGCGGCA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAaccaatgcggcaAGATCGAGACCCGACGC chr18:44788856-Reference-C;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Reference C ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag ATCGTGTCTTGT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAatcgtgtcttgtAGATCGAGACCCGACGC chr18:44788856-Reference-C;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative T ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag AGATACTAACCG CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAagatactaaccgAGATCGAGACCCGACGC chr18:44788856-Alternative-T;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative T ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GGCGCAGAGTTA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAggcgcagagttaAGATCGAGACCCGACGC chr18:44788856-Alternative-T;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative T ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GGCGACAACTGA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAggcgacaactgaAGATCGAGACCCGACGC chr18:44788856-Alternative-T;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Reference C ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag ATAGCCGGTCCA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAatagccggtccaAGATCGAGACCCGACGC chr18:44788856-Reference-C;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative T ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GGCGATCGGATA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAggcgatcggataAGATCGAGACCCGACGC chr18:44788856-Alternative-T;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative G ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag CTGAAGACGTCC CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAActgaagacgtccAGATCGAGACCCGACGC chr18:44788856-Alternative-G;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative T ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GCCGAATGTATA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaTcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgccgaatgtataAGATCGAGACCCGACGC chr18:44788856-Alternative-T;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Reference C ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag CGTTCGCGGATA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAcgttcgcggataAGATCGAGACCCGACGC chr18:44788856-Reference-C;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Variant A ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GCGACTAGAATA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgcgactagaataAGATCGAGACCCGACGC chr18:44788856-Variant-A;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Variant A ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GTCGTCTGATGG CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgtcgtctgatggAGATCGAGACCCGACGC chr18:44788856-Variant-A;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Variant A ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag CAAGATTCGGAA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAcaagattcggaaAGATCGAGACCCGACGC chr18:44788856-Variant-A;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Reference C ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GTTGGATGCGAC CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaCcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgttggatgcgacAGATCGAGACCCGACGC chr18:44788856-Reference-C;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Variant A ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag CGTGTCGAGCAT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAcgtgtcgagcatAGATCGAGACCCGACGC chr18:44788856-Variant-A;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Variant A ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag ACTTCAGCTTGT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaAcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAacttcagcttgtAGATCGAGACCCGACGC chr18:44788856-Variant-A;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative G ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag CTAGACGAGTCA CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAActagacgagtcaAGATCGAGACCCGACGC chr18:44788856-Alternative-G;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative G ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GACTGCCACCAT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgactgccaccatAGATCGAGACCCGACGC chr18:44788856-Alternative-G;Patient-36 chr18:44788856-CA DeNovo Patient-36 intergenic NA 0.000512821 0.39 8.23 2.42 SKOR2 13301 Alternative G ggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccag GCCACGTGTGAT CGACGCGGTCTCTCTCTggtggaaggcaccgcagaccgactgtgcacgaagtccacacgcgcgcagaGcgccgccggccctcgccttgcgcgtgagcgagtcaggtttgcgacccagAGAGGGAGACGGACGTCTCAATAAgccacgtgtgatAGATCGAGACCCGACGC chr18:44788856-Alternative-G;Patient-36 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Reference G tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GATGCCGTCACT CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAgatgccgtcactAGATCGAGACCCGACGC chr18:45397728-Reference-G;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative T tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CTTACTCGACGC CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAActtactcgacgcAGATCGAGACCCGACGC chr18:45397728-Alternative-T;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Variant A tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CGAATTATCGCA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAcgaattatcgcaAGATCGAGACCCGACGC chr18:45397728-Variant-A;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Reference G tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CAACTCCAACTT CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAcaactccaacttAGATCGAGACCCGACGC chr18:45397728-Reference-G;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative T tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga AGGAGATAAGCA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAaggagataagcaAGATCGAGACCCGACGC chr18:45397728-Alternative-T;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Reference G tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GCGGTAGTATGG CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAgcggtagtatggAGATCGAGACCCGACGC chr18:45397728-Reference-G;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Reference G tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga AACACCGAAGTT CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAaacaccgaagttAGATCGAGACCCGACGC chr18:45397728-Reference-G;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Reference G tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga AGATGCGTACTA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcGgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAagatgcgtactaAGATCGAGACCCGACGC chr18:45397728-Reference-G;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative T tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga ATAGGCTAGTCA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAataggctagtcaAGATCGAGACCCGACGC chr18:45397728-Alternative-T;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative T tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CTGCGCATGTGA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAActgcgcatgtgaAGATCGAGACCCGACGC chr18:45397728-Alternative-T;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative T tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GTTAGCAAGCTA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcTgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAgttagcaagctaAGATCGAGACCCGACGC chr18:45397728-Alternative-T;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Variant A tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga AACCGGTCTAGG CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAaaccggtctaggAGATCGAGACCCGACGC chr18:45397728-Variant-A;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative C tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CGGACGACTCTT CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAcggacgactcttAGATCGAGACCCGACGC chr18:45397728-Alternative-C;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative C tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CGACCGAAGATA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAcgaccgaagataAGATCGAGACCCGACGC chr18:45397728-Alternative-C;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Variant A tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GACTATATCGCA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAgactatatcgcaAGATCGAGACCCGACGC chr18:45397728-Variant-A;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative C tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga ACTGGTAGGACG CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAactggtaggacgAGATCGAGACCCGACGC chr18:45397728-Alternative-C;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Variant A tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GCGTCATTGCGT CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAgcgtcattgcgtAGATCGAGACCCGACGC chr18:45397728-Variant-A;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative C tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga CATCCAATCAAG CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAcatccaatcaagAGATCGAGACCCGACGC chr18:45397728-Alternative-C;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Variant A tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga AAGGACCGTCGA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcAgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAaaggaccgtcgaAGATCGAGACCCGACGC chr18:45397728-Variant-A;Patient-87 chr18:45397728-GA DeNovo Patient-87 intronic SMAD2 0.000159 4.95e-05 -0.13 1.11 -0.47 SMAD2 59788 Alternative C tctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattga GGAACACAATCA CGACGCGGTCTCTCTCTtctgaaaagtccatttcttacatattacaaaatcatcaaaacttcaatgcCgataaaggagtatttcaaaacatcttttgaaaatgaatcaagcaattgaAGAGGGAGACGGACGTCTCAATAAggaacacaatcaAGATCGAGACCCGACGC chr18:45397728-Alternative-C;Patient-87 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Variant A gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg AGTCAGTTCCAA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAagtcagttccaaAGATCGAGACCCGACGC chr18:45438922-Variant-A;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Variant A gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg AACGCATCGCGA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAaacgcatcgcgaAGATCGAGACCCGACGC chr18:45438922-Variant-A;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative C gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACTCTTGTACGC CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAactcttgtacgcAGATCGAGACCCGACGC chr18:45438922-Alternative-C;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative C gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GGCTGTTCGTCT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAggctgttcgtctAGATCGAGACCCGACGC chr18:45438922-Alternative-C;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative C gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GGACGCGAATCA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAggacgcgaatcaAGATCGAGACCCGACGC chr18:45438922-Alternative-C;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative C gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg CAGTTACCTGTT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAcagttacctgttAGATCGAGACCCGACGC chr18:45438922-Alternative-C;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Variant A gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GTCGCTTCATTA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAgtcgcttcattaAGATCGAGACCCGACGC chr18:45438922-Variant-A;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative C gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACGCCGCTATCA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtCtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAacgccgctatcaAGATCGAGACCCGACGC chr18:45438922-Alternative-C;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Variant A gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACTCCTACTCGG CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAactcctactcggAGATCGAGACCCGACGC chr18:45438922-Variant-A;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative T gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACAGGATCGCAC CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAacaggatcgcacAGATCGAGACCCGACGC chr18:45438922-Alternative-T;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative T gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg CGCGACTATCGA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAcgcgactatcgaAGATCGAGACCCGACGC chr18:45438922-Alternative-T;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative T gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACAGATCTAACC CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAacagatctaaccAGATCGAGACCCGACGC chr18:45438922-Alternative-T;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Variant A gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GCCGAAGTTACA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtAtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAgccgaagttacaAGATCGAGACCCGACGC chr18:45438922-Variant-A;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative T gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg CTTATTGCCGAA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAActtattgccgaaAGATCGAGACCCGACGC chr18:45438922-Alternative-T;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Alternative T gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GAATGCGCTCGT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtTtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAgaatgcgctcgtAGATCGAGACCCGACGC chr18:45438922-Alternative-T;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Reference G gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GGCTCGTTCTGT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAggctcgttctgtAGATCGAGACCCGACGC chr18:45438922-Reference-G;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Reference G gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GCACGCCATTCA CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAgcacgccattcaAGATCGAGACCCGACGC chr18:45438922-Reference-G;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Reference G gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg GGCGTGAACGAT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAggcgtgaacgatAGATCGAGACCCGACGC chr18:45438922-Reference-G;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Reference G gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg ACTTCCGACGAG CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAacttccgacgagAGATCGAGACCCGACGC chr18:45438922-Reference-G;Patient-45 chr18:45438922-GA Inherited Patient-45 intronic SMAD2 0.000414 0.00016 -0.03 2.22 -3.64 SMAD2 18594 Reference G gccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttg AACGTAGACAGT CGACGCGGTCTCTCTCTgccaggaggcagcataaaatatagtagactcaggggagctagcagtcagtGtacaagtaagagtgtgtgccagagctaggcagagacaactggtgtcttgAGAGGGAGACGGACGTCTCAATAAaacgtagacagtAGATCGAGACCCGACGC chr18:45438922-Reference-G;Patient-45 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Reference G ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CTCTGAACCTTA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAActctgaaccttaAGATCGAGACCCGACGC chr18:45533205-Reference-G;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Reference G ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg ATTGGCGTCTAA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAattggcgtctaaAGATCGAGACCCGACGC chr18:45533205-Reference-G;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Reference G ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GAGTAGAGGTGG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAgagtagaggtggAGATCGAGACCCGACGC chr18:45533205-Reference-G;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Reference G ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CACGTTATTCAC CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAcacgttattcacAGATCGAGACCCGACGC chr18:45533205-Reference-G;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Reference G ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg AGACGGTTGTGG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagGgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAagacggttgtggAGATCGAGACCCGACGC chr18:45533205-Reference-G;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative T ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CAACAACCGCAG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAcaacaaccgcagAGATCGAGACCCGACGC chr18:45533205-Alternative-T;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative T ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg AACGTGATCGCG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAaacgtgatcgcgAGATCGAGACCCGACGC chr18:45533205-Alternative-T;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative T ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GGTTGTGTCCGA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAggttgtgtccgaAGATCGAGACCCGACGC chr18:45533205-Alternative-T;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative T ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GCGCACACATTA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAgcgcacacattaAGATCGAGACCCGACGC chr18:45533205-Alternative-T;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative T ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CATATAAGGACG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagTgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAcatataaggacgAGATCGAGACCCGACGC chr18:45533205-Alternative-T;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative A ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg AGATGAAGTGCG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAagatgaagtgcgAGATCGAGACCCGACGC chr18:45533205-Alternative-A;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative A ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CGGAATCGAGCA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAcggaatcgagcaAGATCGAGACCCGACGC chr18:45533205-Alternative-A;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative A ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CTCAAGTGTACA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAActcaagtgtacaAGATCGAGACCCGACGC chr18:45533205-Alternative-A;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative A ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg AATCAACTGTGG CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAaatcaactgtggAGATCGAGACCCGACGC chr18:45533205-Alternative-A;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Alternative A ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GATAGGACGCGT CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagAgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAgataggacgcgtAGATCGAGACCCGACGC chr18:45533205-Alternative-A;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Variant C ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg ATTGAGTGCGGC CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAattgagtgcggcAGATCGAGACCCGACGC chr18:45533205-Variant-C;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Variant C ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg ATCGATAGGAGA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAatcgataggagaAGATCGAGACCCGACGC chr18:45533205-Variant-C;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Variant C ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GATCGAACTATC CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAgatcgaactatcAGATCGAGACCCGACGC chr18:45533205-Variant-C;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Variant C ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg CTCAACGGCCAA CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAActcaacggccaaAGATCGAGACCCGACGC chr18:45533205-Variant-C;Patient-68 chr18:45533205-GC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.39 0.2 -3.42 SMAD2 75687 Variant C ctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctg GTCCGGAACAAT CGACGCGGTCTCTCTCTctcggctggataggatgatgtaaagtgctcccacagcgtcttgtccacagCgggtgcaccaccagcatcctccttggaaatgctggccacaggtgccctgAGAGGGAGACGGACGTCTCAATAAgtccggaacaatAGATCGAGACCCGACGC chr18:45533205-Variant-C;Patient-68 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Variant G cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc AGTGTACTGCAT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAagtgtactgcatAGATCGAGACCCGACGC chr18:47044425-Variant-G;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Variant G cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc AAGACTAAGCCA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAaagactaagccaAGATCGAGACCCGACGC chr18:47044425-Variant-G;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative C cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc ACTCGTATGGAT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAactcgtatggatAGATCGAGACCCGACGC chr18:47044425-Alternative-C;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Variant G cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CGTTCAAGGCGA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAcgttcaaggcgaAGATCGAGACCCGACGC chr18:47044425-Variant-G;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative T cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc ATATAAGGCCGT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAatataaggccgtAGATCGAGACCCGACGC chr18:47044425-Alternative-T;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Variant G cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc AAGTGCTCTAAC CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAaagtgctctaacAGATCGAGACCCGACGC chr18:47044425-Variant-G;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Variant G cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CTGCTATGAGCG CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaGaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAActgctatgagcgAGATCGAGACCCGACGC chr18:47044425-Variant-G;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative C cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GTAGATTCGGAA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAgtagattcggaaAGATCGAGACCCGACGC chr18:47044425-Alternative-C;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative C cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CTATGGACGACC CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAActatggacgaccAGATCGAGACCCGACGC chr18:47044425-Alternative-C;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative C cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GGCTCTATCGGT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAggctctatcggtAGATCGAGACCCGACGC chr18:47044425-Alternative-C;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Reference A cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CTGTGGATGCGT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAActgtggatgcgtAGATCGAGACCCGACGC chr18:47044425-Reference-A;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative T cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GCGTATAGTGCG CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAgcgtatagtgcgAGATCGAGACCCGACGC chr18:47044425-Alternative-T;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative C cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc AAGGAACCTCAA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaCaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAaaggaacctcaaAGATCGAGACCCGACGC chr18:47044425-Alternative-C;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Reference A cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GATAGCGTTCCT CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAgatagcgttcctAGATCGAGACCCGACGC chr18:47044425-Reference-A;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Reference A cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GATATGTTGTCG CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAgatatgttgtcgAGATCGAGACCCGACGC chr18:47044425-Reference-A;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative T cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CTTACGCGCAGA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAActtacgcgcagaAGATCGAGACCCGACGC chr18:47044425-Alternative-T;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative T cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GCGATACTGCGA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAgcgatactgcgaAGATCGAGACCCGACGC chr18:47044425-Alternative-T;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Reference A cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc GGATGATACCGG CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAggatgataccggAGATCGAGACCCGACGC chr18:47044425-Reference-A;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Alternative T cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CGGATCATTCGC CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaTaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAAcggatcattcgcAGATCGAGACCCGACGC chr18:47044425-Alternative-T;Patient-57 chr18:47044425-AG DeNovo Patient-57 intergenic NA 0.000513 0 2.58 0.23 RPL17-C18orf32 25489 Reference A cactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcacc CTCGCACCTCAA CGACGCGGTCTCTCTCTcactccagcctgagcaacaatagtgaaattccatctcaaaacaaaacaaaAaaactccccaaaaatactttcgaagaaacatctggaataatgtttcaccAGAGGGAGACGGACGTCTCAATAActcgcacctcaaAGATCGAGACCCGACGC chr18:47044425-Reference-A;Patient-57 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Reference A tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CTTGTAAGCATC CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAActtgtaagcatcAGATCGAGACCCGACGC chr18:47049620-Reference-A;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative C tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ACGCAGCTTAAC CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAacgcagcttaacAGATCGAGACCCGACGC chr18:47049620-Alternative-C;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Reference A tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ATCCTACACCGG CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAatcctacaccggAGATCGAGACCCGACGC chr18:47049620-Reference-A;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Reference A tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ACGTTCCGATCG CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAacgttccgatcgAGATCGAGACCCGACGC chr18:47049620-Reference-A;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative C tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CGGCTCTAATAA CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAcggctctaataaAGATCGAGACCCGACGC chr18:47049620-Alternative-C;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Reference A tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ATTCAACGTCGA CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAattcaacgtcgaAGATCGAGACCCGACGC chr18:47049620-Reference-A;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative C tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat GTATCTCGTCAT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAgtatctcgtcatAGATCGAGACCCGACGC chr18:47049620-Alternative-C;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Variant G tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CTGAGTGCTACG CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAActgagtgctacgAGATCGAGACCCGACGC chr18:47049620-Variant-G;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Variant G tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ACGCTAGGAGGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAacgctaggaggtAGATCGAGACCCGACGC chr18:47049620-Variant-G;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative C tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat AGGACGGAGTCA CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAaggacggagtcaAGATCGAGACCCGACGC chr18:47049620-Alternative-C;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative T tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CTGAGCATCGAC CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAActgagcatcgacAGATCGAGACCCGACGC chr18:47049620-Alternative-T;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Variant G tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat GGTGCGCTATGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAggtgcgctatgtAGATCGAGACCCGACGC chr18:47049620-Variant-G;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Variant G tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat GCGTAGTCGCTA CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAgcgtagtcgctaAGATCGAGACCCGACGC chr18:47049620-Variant-G;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative C tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ATCAATCCGCGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccCtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAatcaatccgcgtAGATCGAGACCCGACGC chr18:47049620-Alternative-C;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative T tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat AATCATCGACGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAaatcatcgacgtAGATCGAGACCCGACGC chr18:47049620-Alternative-T;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative T tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat GCGAATTCGGAC CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAgcgaattcggacAGATCGAGACCCGACGC chr18:47049620-Alternative-T;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative T tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat ATCTTAGACGGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAatcttagacggtAGATCGAGACCCGACGC chr18:47049620-Alternative-T;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Alternative T tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CGGTAACTCGCT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccTtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAcggtaactcgctAGATCGAGACCCGACGC chr18:47049620-Alternative-T;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Variant G tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat CTCGGCTACAAC CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccGtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAActcggctacaacAGATCGAGACCCGACGC chr18:47049620-Variant-G;Patient-80 chr18:47049620-AG DeNovo Patient-80 intergenic 0.000637 0.00185 -0.33 0.29 -3.48 RPL17-C18orf32 30684 Reference A tcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaat GATGAGTAACGT CGACGCGGTCTCTCTCTtcttgtttttgtcttaatagaagaagtcaatatcactccttcattcatccAtaaatatttactgagtatctatcatgtgtcaaatatataaataggaaatAGAGGGAGACGGACGTCTCAATAAgatgagtaacgtAGATCGAGACCCGACGC chr18:47049620-Reference-A;Patient-80 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative A tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AGATACGAACGG CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAagatacgaacggAGATCGAGACCCGACGC chr18:47254780-Alternative-A;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Reference C tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GGATAGGTATGT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAggataggtatgtAGATCGAGACCCGACGC chr18:47254780-Reference-C;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Reference C tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AGCGCTCATCGT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAagcgctcatcgtAGATCGAGACCCGACGC chr18:47254780-Reference-C;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Reference C tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct ATCGCGGTTGTC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAatcgcggttgtcAGATCGAGACCCGACGC chr18:47254780-Reference-C;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Reference C tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AAGCGTACTAAC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAaagcgtactaacAGATCGAGACCCGACGC chr18:47254780-Reference-C;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative A tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GCCTTCGTTATT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAgccttcgttattAGATCGAGACCCGACGC chr18:47254780-Alternative-A;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Reference C tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AAGGCGCGTATC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgCgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAaaggcgcgtatcAGATCGAGACCCGACGC chr18:47254780-Reference-C;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative G tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GGTAGGTAGTCG CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAggtaggtagtcgAGATCGAGACCCGACGC chr18:47254780-Alternative-G;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative A tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GTCATACCTTCG CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAgtcataccttcgAGATCGAGACCCGACGC chr18:47254780-Alternative-A;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative G tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct ACTTGTCTTGGT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAacttgtcttggtAGATCGAGACCCGACGC chr18:47254780-Alternative-G;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative A tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GACCATGACGAT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAgaccatgacgatAGATCGAGACCCGACGC chr18:47254780-Alternative-A;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative G tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct CTAACGGAGTCA CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAActaacggagtcaAGATCGAGACCCGACGC chr18:47254780-Alternative-G;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Variant T tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct CAGCATTCAACC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAcagcattcaaccAGATCGAGACCCGACGC chr18:47254780-Variant-T;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Variant T tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct CGTGCGTAGCAA CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAcgtgcgtagcaaAGATCGAGACCCGACGC chr18:47254780-Variant-T;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Variant T tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct CGTGCTACAACC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAcgtgctacaaccAGATCGAGACCCGACGC chr18:47254780-Variant-T;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative G tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AAGGTTCGTTGT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAaaggttcgttgtAGATCGAGACCCGACGC chr18:47254780-Alternative-G;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Variant T tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GATATTGGACGA CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAgatattggacgaAGATCGAGACCCGACGC chr18:47254780-Variant-T;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative G tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct GGTCAAGTACTT CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgGgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAggtcaagtacttAGATCGAGACCCGACGC chr18:47254780-Alternative-G;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Alternative A tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct AAGGTAGGAGCG CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgAgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAaaggtaggagcgAGATCGAGACCCGACGC chr18:47254780-Alternative-A;Patient-100 chr18:47254780-CT DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.5 0.29 ACAA2 85470 Variant T tgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtct ATTAAGCGGAAC CGACGCGGTCTCTCTCTtgacagcagcaagtcggggccagggtgaatacccttgggcctcggtagtgTgaggagtggcttccagaagagagtttggggcatcccagtggcagtgtctAGAGGGAGACGGACGTCTCAATAAattaagcggaacAGATCGAGACCCGACGC chr18:47254780-Variant-T;Patient-100 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative T attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccacta GGTATGCGATTA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAggtatgcgattaAGATCGAGACCCGACGC chr18:47311332-Alternative-T;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Reference G attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccacta ACCGACGCGAAT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAaccgacgcgaatAGATCGAGACCCGACGC chr18:47311332-Reference-G;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Reference G attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccacta ACGCGGTTACGT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAacgcggttacgtAGATCGAGACCCGACGC chr18:47311332-Reference-G;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Reference G attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccacta GTACGGTTCGAC CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAgtacggttcgacAGATCGAGACCCGACGC chr18:47311332-Reference-G;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative T attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CGCGACACAGAA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcgcgacacagaaAGATCGAGACCCGACGC chr18:47311332-Alternative-T;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative T attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccacta AGTGTAGATGCA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAagtgtagatgcaAGATCGAGACCCGACGC chr18:47311332-Alternative-T;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Reference G attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CATTCAGAATCG CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcattcagaatcgAGATCGAGACCCGACGC chr18:47311332-Reference-G;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Reference G attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccacta AGACTACGCGGT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaGagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAagactacgcggtAGATCGAGACCCGACGC chr18:47311332-Reference-G;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative T attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccacta AGATACGTCGTT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAagatacgtcgttAGATCGAGACCCGACGC chr18:47311332-Alternative-T;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative T attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CAGCATACTCCT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaTagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcagcatactcctAGATCGAGACCCGACGC chr18:47311332-Alternative-T;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Variant A attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccacta GACAGTATCCAA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAgacagtatccaaAGATCGAGACCCGACGC chr18:47311332-Variant-A;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative C attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CGGACATACGGT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcggacatacggtAGATCGAGACCCGACGC chr18:47311332-Alternative-C;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative C attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccacta GCCGAACTGAAT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAgccgaactgaatAGATCGAGACCCGACGC chr18:47311332-Alternative-C;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Variant A attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CTCTACGACGCT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAActctacgacgctAGATCGAGACCCGACGC chr18:47311332-Variant-A;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative C attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccacta ACGTCGACATTA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAacgtcgacattaAGATCGAGACCCGACGC chr18:47311332-Alternative-C;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Variant A attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccacta GAATTAACGGAC CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAgaattaacggacAGATCGAGACCCGACGC chr18:47311332-Variant-A;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Variant A attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CATTACCAACAG CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcattaccaacagAGATCGAGACCCGACGC chr18:47311332-Variant-A;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Variant A attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccacta AATCGCGACGAG CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaAagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAaatcgcgacgagAGATCGAGACCCGACGC chr18:47311332-Variant-A;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative C attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccacta CGATGCGTGACA CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAcgatgcgtgacaAGATCGAGACCCGACGC chr18:47311332-Alternative-C;Patient-68 chr18:47311332-GA DeNovo Patient-68 intronic ACAA2 3.2e-05 0.000346 -0.22 0.62 -3.27 ACAA2 28918 Alternative C attatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccacta AGCGCTCGAGTT CGACGCGGTCTCTCTCTattatctgctcatgcagtgaacacaagctgagtggggcacacagtgcacaCagactggacacacagaggaagagcttggttcttaagtgcaaagccactaAGAGGGAGACGGACGTCTCAATAAagcgctcgagttAGATCGAGACCCGACGC chr18:47311332-Alternative-C;Patient-68 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative T gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CACTATCCGTAA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcactatccgtaaAGATCGAGACCCGACGC chr18:47825013-Alternative-T;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Variant C gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc AGTAGAAGCGAT CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAagtagaagcgatAGATCGAGACCCGACGC chr18:47825013-Variant-C;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Reference G gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GATCAGTCGTCA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgatcagtcgtcaAGATCGAGACCCGACGC chr18:47825013-Reference-G;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Variant C gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CGCGAATCGTTC CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcgcgaatcgttcAGATCGAGACCCGACGC chr18:47825013-Variant-C;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Variant C gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GTCATGACGACC CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgtcatgacgaccAGATCGAGACCCGACGC chr18:47825013-Variant-C;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative T gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CATTGTCCTACA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcattgtcctacaAGATCGAGACCCGACGC chr18:47825013-Alternative-T;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative T gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GATATCGCTGCG CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgatatcgctgcgAGATCGAGACCCGACGC chr18:47825013-Alternative-T;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative T gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CGTCAAGTGTCG CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcgtcaagtgtcgAGATCGAGACCCGACGC chr18:47825013-Alternative-T;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Variant C gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc ATTGACTGACGA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAattgactgacgaAGATCGAGACCCGACGC chr18:47825013-Variant-C;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative T gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GTGTAGCCTGAC CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcTgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgtgtagcctgacAGATCGAGACCCGACGC chr18:47825013-Alternative-T;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Reference G gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CGACTTCGATAA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcgacttcgataaAGATCGAGACCCGACGC chr18:47825013-Reference-G;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Reference G gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GACAAGTTCCTA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgacaagttcctaAGATCGAGACCCGACGC chr18:47825013-Reference-G;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative A gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CTTGCGGTATAA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAActtgcggtataaAGATCGAGACCCGACGC chr18:47825013-Alternative-A;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative A gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CATGCTCGAACT CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcatgctcgaactAGATCGAGACCCGACGC chr18:47825013-Alternative-A;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative A gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CGCGTATGACCA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcgcgtatgaccaAGATCGAGACCCGACGC chr18:47825013-Alternative-A;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Reference G gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GGTAACGCGCAT CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAggtaacgcgcatAGATCGAGACCCGACGC chr18:47825013-Reference-G;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Reference G gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc GCCAGGATTATT CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcGgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAgccaggattattAGATCGAGACCCGACGC chr18:47825013-Reference-G;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Variant C gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CATCAAGAACGA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcCgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcatcaagaacgaAGATCGAGACCCGACGC chr18:47825013-Variant-C;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative A gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc CGCCATCGATGT CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAcgccatcgatgtAGATCGAGACCCGACGC chr18:47825013-Alternative-A;Patient-110 chr18:47825013-GC DeNovo Patient-110 intergenic NA 3.98e-05 -0.82 0.01 -3.81 SKA1 76378 Alternative A gccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatc ACCTTGCGTCAA CGACGCGGTCTCTCTCTgccctgcatcctaccaaggagcccccagaagtcgggccctgcgtggggtcAgttggcctggtggagtgtgtccaacctctgacccgcttttgggaggatcAGAGGGAGACGGACGTCTCAATAAaccttgcgtcaaAGATCGAGACCCGACGC chr18:47825013-Alternative-A;Patient-110 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative A ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CTTACCGGATAT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAActtaccggatatAGATCGAGACCCGACGC chr18:48647696-Alternative-A;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Reference G ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagc ACCAACGCGGAT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAaccaacgcggatAGATCGAGACCCGACGC chr18:48647696-Reference-G;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Reference G ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CACATTGTCGTT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcacattgtcgttAGATCGAGACCCGACGC chr18:48647696-Reference-G;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Reference G ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagc ACGCATGCACAT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAacgcatgcacatAGATCGAGACCCGACGC chr18:48647696-Reference-G;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Reference G ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CTTGACCGCTGA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAActtgaccgctgaAGATCGAGACCCGACGC chr18:48647696-Reference-G;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Variant C ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagc GTGCTAGATCCT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAgtgctagatcctAGATCGAGACCCGACGC chr18:48647696-Variant-C;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Reference G ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagc GTCGTTCGTCAC CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggGagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAgtcgttcgtcacAGATCGAGACCCGACGC chr18:48647696-Reference-G;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative T ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagc GTCGAACTAAGA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAgtcgaactaagaAGATCGAGACCCGACGC chr18:48647696-Alternative-T;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative A ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CGGAACAACATA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcggaacaacataAGATCGAGACCCGACGC chr18:48647696-Alternative-A;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Variant C ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagc AGTAGCGCGCAA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAagtagcgcgcaaAGATCGAGACCCGACGC chr18:48647696-Variant-C;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative T ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagc GTACCTACATTC CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAgtacctacattcAGATCGAGACCCGACGC chr18:48647696-Alternative-T;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative T ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagc AACCGAGTCAAG CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAaaccgagtcaagAGATCGAGACCCGACGC chr18:48647696-Alternative-T;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Variant C ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagc GAATTGCGGCCA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAgaattgcggccaAGATCGAGACCCGACGC chr18:48647696-Variant-C;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative T ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagc AGCAAGCGCAAG CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAagcaagcgcaagAGATCGAGACCCGACGC chr18:48647696-Alternative-T;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative A ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CGTTATCGTCAT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcgttatcgtcatAGATCGAGACCCGACGC chr18:48647696-Alternative-A;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative A ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CGGTAAGCAGCT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcggtaagcagctAGATCGAGACCCGACGC chr18:48647696-Alternative-A;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Variant C ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagc AGTGAGGTTGTC CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAagtgaggttgtcAGATCGAGACCCGACGC chr18:48647696-Variant-C;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative A ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagc AATGTTCGCTGA CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggAagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAaatgttcgctgaAGATCGAGACCCGACGC chr18:48647696-Alternative-A;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Alternative T ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CAACCGATACGT CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggTagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcaaccgatacgtAGATCGAGACCCGACGC chr18:48647696-Alternative-T;Patient-50 chr18:48647696-GC DeNovo Patient-50 intergenic NA 0.000513 -0.12 1.22 0.4 SMAD4 91112 Variant C ccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagc CATCATTGATCG CGACGCGGTCTCTCTCTccccggttcccacccgtgcctttccggccacacctccctgcaagctgaggCagccggctctggcctcagccagcccaggaaggggttcccacagtggagcAGAGGGAGACGGACGTCTCAATAAcatcattgatcgAGATCGAGACCCGACGC chr18:48647696-Variant-C;Patient-50 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Variant T aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CTTAACCGGTCC CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAActtaaccggtccAGATCGAGACCCGACGC chr18:52558643-Variant-T;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Variant T aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ACCGTAGATTGT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAaccgtagattgtAGATCGAGACCCGACGC chr18:52558643-Variant-T;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Variant T aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CTTACGCCTACA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAActtacgcctacaAGATCGAGACCCGACGC chr18:52558643-Variant-T;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative A aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ATTGATTACGGC CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAattgattacggcAGATCGAGACCCGACGC chr18:52558643-Alternative-A;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Variant T aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CGTCGAGTACCA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAcgtcgagtaccaAGATCGAGACCCGACGC chr18:52558643-Variant-T;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Variant T aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CGCGCTTGACTA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgTtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAcgcgcttgactaAGATCGAGACCCGACGC chr18:52558643-Variant-T;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative G aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CATGCCATAGCA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAcatgccatagcaAGATCGAGACCCGACGC chr18:52558643-Alternative-G;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative G aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta AAGAATGCGACT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAaagaatgcgactAGATCGAGACCCGACGC chr18:52558643-Alternative-G;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative A aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ACTATCGTGCAT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAactatcgtgcatAGATCGAGACCCGACGC chr18:52558643-Alternative-A;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative G aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta GATAGATAGCCA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAgatagatagccaAGATCGAGACCCGACGC chr18:52558643-Alternative-G;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative G aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CATTATCTGCCA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAcattatctgccaAGATCGAGACCCGACGC chr18:52558643-Alternative-G;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative G aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta AGTCGTGTAGAA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgGtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAagtcgtgtagaaAGATCGAGACCCGACGC chr18:52558643-Alternative-G;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative A aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta GTTACTCGTTGT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAgttactcgttgtAGATCGAGACCCGACGC chr18:52558643-Alternative-A;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative A aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ATAACGACCGTT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAataacgaccgttAGATCGAGACCCGACGC chr18:52558643-Alternative-A;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Reference C aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ATACTAGACGCT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAatactagacgctAGATCGAGACCCGACGC chr18:52558643-Reference-C;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Alternative A aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta CGCTCGATGACT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgAtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAcgctcgatgactAGATCGAGACCCGACGC chr18:52558643-Alternative-A;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Reference C aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta AGGACAGATTCT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAaggacagattctAGATCGAGACCCGACGC chr18:52558643-Reference-C;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Reference C aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta GACCACGCCATT CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAgaccacgccattAGATCGAGACCCGACGC chr18:52558643-Reference-C;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Reference C aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta ACTGTGCATCAA CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAactgtgcatcaaAGATCGAGACCCGACGC chr18:52558643-Reference-C;Patient-88 chr18:52558643-CT DeNovo Patient-88 3 prime UTR RAB27B 0.000224 0.00032 0.21 5.98 1.2 RAB27B 62934 Reference C aagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagcta AACCGATTAGTC CGACGCGGTCTCTCTCTaagatgggttgtggctgggtattccctcccatggtgtttcctctgggatgCtcttcattatctcaatgcctgtgccatgaagatagaaaactgtaagctaAGAGGGAGACGGACGTCTCAATAAaaccgattagtcAGATCGAGACCCGACGC chr18:52558643-Reference-C;Patient-88 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Variant A taataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CTTACTGATCGT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAActtactgatcgtAGATCGAGACCCGACGC chr18:55234867-Variant-A;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative C taataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa AGATGGCGACAC CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAagatggcgacacAGATCGAGACCCGACGC chr18:55234867-Alternative-C;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative C taataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GTGGCATTCCGA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgtggcattccgaAGATCGAGACCCGACGC chr18:55234867-Alternative-C;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative C taataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa ACGCTGACTACG CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAacgctgactacgAGATCGAGACCCGACGC chr18:55234867-Alternative-C;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Variant A taataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GTCATTAGGCCG CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgtcattaggccgAGATCGAGACCCGACGC chr18:55234867-Variant-A;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative C taataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa AGTGTCCGAATC CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAagtgtccgaatcAGATCGAGACCCGACGC chr18:55234867-Alternative-C;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Variant A taataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CATCGAATTCCT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAcatcgaattcctAGATCGAGACCCGACGC chr18:55234867-Variant-A;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative C taataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GTCTATACCTGT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggCctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgtctatacctgtAGATCGAGACCCGACGC chr18:55234867-Alternative-C;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Reference G taataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CTCTGCGCAGAT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAActctgcgcagatAGATCGAGACCCGACGC chr18:55234867-Reference-G;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Reference G taataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GTTGGACGCGAT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgttggacgcgatAGATCGAGACCCGACGC chr18:55234867-Reference-G;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Variant A taataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CTTGTTCTCCTA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAActtgttctcctaAGATCGAGACCCGACGC chr18:55234867-Variant-A;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Variant A taataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa AGCTGTGTTCTT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggActgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAagctgtgttcttAGATCGAGACCCGACGC chr18:55234867-Variant-A;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Reference G taataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GGAACGGTAACA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAggaacggtaacaAGATCGAGACCCGACGC chr18:55234867-Reference-G;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative T taataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CTTACGCACCTA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAActtacgcacctaAGATCGAGACCCGACGC chr18:55234867-Alternative-T;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Reference G taataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa ACAATTGGCGCG CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAacaattggcgcgAGATCGAGACCCGACGC chr18:55234867-Reference-G;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Reference G taataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa CTTATCGAACGT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggGctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAActtatcgaacgtAGATCGAGACCCGACGC chr18:55234867-Reference-G;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative T taataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa ACCTTGGTCTTA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAaccttggtcttaAGATCGAGACCCGACGC chr18:55234867-Alternative-T;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative T taataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GACTATGCTCGG CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgactatgctcggAGATCGAGACCCGACGC chr18:55234867-Alternative-T;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative T taataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa GACCGCCTACTT CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAgaccgcctacttAGATCGAGACCCGACGC chr18:55234867-Alternative-T;Patient-55 chr18:55234867-GA Inherited Patient-55 intronic FECH 3.2e-05 4.95e-05 0.24 6.35 2.07 FECH 19101 Alternative T taataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaa AGAGGTGTCGCA CGACGCGGTCTCTCTCTtaataaataataagaccatgataatgttactgtccaaagcattagcagggTctgcaactatgaatgtgacataaattgccacaagaaacatttaggttaaAGAGGGAGACGGACGTCTCAATAAagaggtgtcgcaAGATCGAGACCCGACGC chr18:55234867-Alternative-T;Patient-55 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative G atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AAGCAGTAACCA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAaagcagtaaccaAGATCGAGACCCGACGC chr18:55235462-Alternative-G;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative G atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AATCGCTTGCTT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAaatcgcttgcttAGATCGAGACCCGACGC chr18:55235462-Alternative-G;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Variant A atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt ACGTTGCCGACT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAacgttgccgactAGATCGAGACCCGACGC chr18:55235462-Variant-A;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Variant A atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AACGAGATGACG CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAaacgagatgacgAGATCGAGACCCGACGC chr18:55235462-Variant-A;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative T atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt CTTATACGTCCA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAActtatacgtccaAGATCGAGACCCGACGC chr18:55235462-Alternative-T;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Variant A atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt CGTTATCTCCGT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAcgttatctccgtAGATCGAGACCCGACGC chr18:55235462-Variant-A;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative T atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AGTTCCAATCCT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAagttccaatcctAGATCGAGACCCGACGC chr18:55235462-Alternative-T;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Variant A atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt ACCTTCGGATAA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAaccttcggataaAGATCGAGACCCGACGC chr18:55235462-Variant-A;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Reference C atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GCAACGCTTATT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgcaacgcttattAGATCGAGACCCGACGC chr18:55235462-Reference-C;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Reference C atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AGACGCTCTCGA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAagacgctctcgaAGATCGAGACCCGACGC chr18:55235462-Reference-C;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative G atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt ACGGTATTAAGG CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAacggtattaaggAGATCGAGACCCGACGC chr18:55235462-Alternative-G;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Variant A atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GCCGTCAGACTT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaActgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgccgtcagacttAGATCGAGACCCGACGC chr18:55235462-Variant-A;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative G atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt ACACGAAGGCAA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAacacgaaggcaaAGATCGAGACCCGACGC chr18:55235462-Alternative-G;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Reference C atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GATTGCGGTCCA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgattgcggtccaAGATCGAGACCCGACGC chr18:55235462-Reference-C;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Reference C atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt AGGCGTAGTTCG CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAaggcgtagttcgAGATCGAGACCCGACGC chr18:55235462-Reference-C;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative T atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GTTCTGACGTAA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgttctgacgtaaAGATCGAGACCCGACGC chr18:55235462-Alternative-T;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative G atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt CTCGTGTGGAGT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaGctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAActcgtgtggagtAGATCGAGACCCGACGC chr18:55235462-Alternative-G;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Reference C atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GCGAACTAGTCG CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaCctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgcgaactagtcgAGATCGAGACCCGACGC chr18:55235462-Reference-C;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative T atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GCCGTACGCAAT CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgccgtacgcaatAGATCGAGACCCGACGC chr18:55235462-Alternative-T;Patient-61 chr18:55235462-CA Inherited Patient-61 intronic FECH 0.000287 0.000148 0.31 7.3 0.17 FECH 18506 Alternative T atgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagtt GATCGATAAGCA CGACGCGGTCTCTCTCTatgacatccccagtgctgcaggtcaaccggcttctcgcattttcttttcaTctgtccagtatctgaaggttacggtctaaatgcctagggtctgggagttAGAGGGAGACGGACGTCTCAATAAgatcgataagcaAGATCGAGACCCGACGC chr18:55235462-Alternative-T;Patient-61 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Variant A attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CATTACTGGCGC CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAcattactggcgcAGATCGAGACCCGACGC chr18:57322741-Variant-A;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Variant A attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GCGTTGAGAACG CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgcgttgagaacgAGATCGAGACCCGACGC chr18:57322741-Variant-A;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Reference G attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GTTATTAGTCGG CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgttattagtcggAGATCGAGACCCGACGC chr18:57322741-Reference-G;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Reference G attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GTTGTGACTCTT CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgttgtgactcttAGATCGAGACCCGACGC chr18:57322741-Reference-G;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative C attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GCCAATCGTCGA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgccaatcgtcgaAGATCGAGACCCGACGC chr18:57322741-Alternative-C;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Variant A attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt AATAGTCCGCTA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAaatagtccgctaAGATCGAGACCCGACGC chr18:57322741-Variant-A;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative T attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CGCAATCAGGAC CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAcgcaatcaggacAGATCGAGACCCGACGC chr18:57322741-Alternative-T;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Variant A attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CTTGCTTGTCAA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAActtgcttgtcaaAGATCGAGACCCGACGC chr18:57322741-Variant-A;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Variant A attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CTTGTCGTTACA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagAtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAActtgtcgttacaAGATCGAGACCCGACGC chr18:57322741-Variant-A;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative C attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GAGGTTAGACTT CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgaggttagacttAGATCGAGACCCGACGC chr18:57322741-Alternative-C;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative T attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GACCTCCAATCG CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgacctccaatcgAGATCGAGACCCGACGC chr18:57322741-Alternative-T;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative C attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt ACGCTAATGCTA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAacgctaatgctaAGATCGAGACCCGACGC chr18:57322741-Alternative-C;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative C attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GATGAACTGCGG CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgatgaactgcggAGATCGAGACCCGACGC chr18:57322741-Alternative-C;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative C attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt GATGTACTTGGT CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagCtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAgatgtacttggtAGATCGAGACCCGACGC chr18:57322741-Alternative-C;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Reference G attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CGTAAGGTTAGA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAcgtaaggttagaAGATCGAGACCCGACGC chr18:57322741-Reference-G;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative T attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt ACGCGTCCTGAT CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAacgcgtcctgatAGATCGAGACCCGACGC chr18:57322741-Alternative-T;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative T attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt ACGTTACACCGA CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAacgttacaccgaAGATCGAGACCCGACGC chr18:57322741-Alternative-T;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Alternative T attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CAATAGCTAACC CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagTtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAcaatagctaaccAGATCGAGACCCGACGC chr18:57322741-Alternative-T;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Reference G attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt ACTCTAGTCAGT CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAAactctagtcagtAGATCGAGACCCGACGC chr18:57322741-Reference-G;Patient-55 chr18:57322741-GA Inherited Patient-55 intronic CCBE1 3.2e-05 4.95e-05 0.01 2.71 2 CCBE1 41902 Reference G attaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgttt CTAGTTGACGGC CGACGCGGTCTCTCTCTattaaaaaaacatttgaattcagtttctctccacaggtttttcagtacagGtccatatggagatcctttgggctttttacaggcaatgaagtctctgtttAGAGGGAGACGGACGTCTCAATAActagttgacggcAGATCGAGACCCGACGC chr18:57322741-Reference-G;Patient-55 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative G gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CGAGTATAGGCG CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcgagtataggcgAGATCGAGACCCGACGC chr18:57356572-Alternative-G;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Variant T gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact AGAATATGCGAC CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAagaatatgcgacAGATCGAGACCCGACGC chr18:57356572-Variant-T;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative A gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CACATAGCAACG CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcacatagcaacgAGATCGAGACCCGACGC chr18:57356572-Alternative-A;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative G gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GGAACACCACCA CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAggaacaccaccaAGATCGAGACCCGACGC chr18:57356572-Alternative-G;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative A gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GTACTAATGCGT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAgtactaatgcgtAGATCGAGACCCGACGC chr18:57356572-Alternative-A;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative A gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CATTGTCTTCGA CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcattgtcttcgaAGATCGAGACCCGACGC chr18:57356572-Alternative-A;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative G gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact ATTAAGGTGACG CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAattaaggtgacgAGATCGAGACCCGACGC chr18:57356572-Alternative-G;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative A gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GTTACGGTAGAA CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAgttacggtagaaAGATCGAGACCCGACGC chr18:57356572-Alternative-A;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative G gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact ACGCGCTGTTCA CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAacgcgctgttcaAGATCGAGACCCGACGC chr18:57356572-Alternative-G;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Variant T gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact ACATAAGCGGAT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAacataagcggatAGATCGAGACCCGACGC chr18:57356572-Variant-T;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Variant T gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact AGCTTATGTGGT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAagcttatgtggtAGATCGAGACCCGACGC chr18:57356572-Variant-T;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Variant T gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GGCCGGTCATAA CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAggccggtcataaAGATCGAGACCCGACGC chr18:57356572-Variant-T;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Reference C gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GGTGATAGTAGT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAggtgatagtagtAGATCGAGACCCGACGC chr18:57356572-Reference-C;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative A gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CACGATGTCGGT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaAggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcacgatgtcggtAGATCGAGACCCGACGC chr18:57356572-Alternative-A;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Reference C gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GGCTCACTTGCT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAggctcacttgctAGATCGAGACCCGACGC chr18:57356572-Reference-C;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Reference C gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CGATCGATTGCG CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcgatcgattgcgAGATCGAGACCCGACGC chr18:57356572-Reference-C;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Alternative G gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact ACCTGTCGTCGT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaGggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAacctgtcgtcgtAGATCGAGACCCGACGC chr18:57356572-Alternative-G;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Reference C gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact ACTACGGTTCAC CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAactacggttcacAGATCGAGACCCGACGC chr18:57356572-Reference-C;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Variant T gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact GTCAACGCGTTC CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaTggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAgtcaacgcgttcAGATCGAGACCCGACGC chr18:57356572-Variant-T;Patient-43 chr18:57356572-CT DeNovo Patient-43 intronic CCBE1 NA 4.95e-05 -0.89 0.01 -5.48 CCBE1 8071 Reference C gaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaact CAGCTTACGAAT CGACGCGGTCTCTCTCTgaggcaaatagaatgtcccacaggagtggccaagaaggaaaggtctagaaCggatgtggtcccagtttctgaagtcctcaaggtcatggtaagatgaactAGAGGGAGACGGACGTCTCAATAAcagcttacgaatAGATCGAGACCCGACGC chr18:57356572-Reference-C;Patient-43 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Reference G caaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACTTGCGTGCAG CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAacttgcgtgcagAGATCGAGACCCGACGC chr18:58030284-Reference-G;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Reference G caaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GATAGCGGTATC CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAgatagcggtatcAGATCGAGACCCGACGC chr18:58030284-Reference-G;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Reference G caaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta CGCAGCGTTATA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAcgcagcgttataAGATCGAGACCCGACGC chr18:58030284-Reference-G;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Reference G caaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GTAGTCGTACAT CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAgtagtcgtacatAGATCGAGACCCGACGC chr18:58030284-Reference-G;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative A caaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GATATCAGGCAA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAgatatcaggcaaAGATCGAGACCCGACGC chr18:58030284-Alternative-A;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Reference G caaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACGATAGTTCGT CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaGtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAacgatagttcgtAGATCGAGACCCGACGC chr18:58030284-Reference-G;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Variant T caaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta AGTACCACGTGC CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAagtaccacgtgcAGATCGAGACCCGACGC chr18:58030284-Variant-T;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Variant T caaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta CATAGTACGACC CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAcatagtacgaccAGATCGAGACCCGACGC chr18:58030284-Variant-T;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Variant T caaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta AACTAGTACGCA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAaactagtacgcaAGATCGAGACCCGACGC chr18:58030284-Variant-T;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative C caaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACCGTAGCTACG CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAaccgtagctacgAGATCGAGACCCGACGC chr18:58030284-Alternative-C;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Variant T caaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACCAAGCGGTCA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAaccaagcggtcaAGATCGAGACCCGACGC chr18:58030284-Variant-T;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative A caaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GCCGGTATGAAC CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAgccggtatgaacAGATCGAGACCCGACGC chr18:58030284-Alternative-A;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative C caaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACGTTAGTACAG CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAacgttagtacagAGATCGAGACCCGACGC chr18:58030284-Alternative-C;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative A caaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta AACAATTAGGCG CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAaacaattaggcgAGATCGAGACCCGACGC chr18:58030284-Alternative-A;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Variant T caaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta AGGTAGGCGTGA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaTtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAaggtaggcgtgaAGATCGAGACCCGACGC chr18:58030284-Variant-T;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative A caaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta CGCAATGCGTCA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAcgcaatgcgtcaAGATCGAGACCCGACGC chr18:58030284-Alternative-A;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative C caaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GGCCAATCAACT CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAggccaatcaactAGATCGAGACCCGACGC chr18:58030284-Alternative-C;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative A caaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ACCTGATAGAAG CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaAtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAacctgatagaagAGATCGAGACCCGACGC chr18:58030284-Alternative-A;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative C caaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta GACCAATGTTCA CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAgaccaatgttcaAGATCGAGACCCGACGC chr18:58030284-Alternative-C;Patient-25 chr18:58030284-GT Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.24 0.55 -1.26 MC4R 9716 Alternative C caaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgta ATCTCTAGTCGT CGACGCGGTCTCTCTCTcaaattttagaacaattaacatttttggtgataacaaattatcctttggaCtacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaAGAGGGAGACGGACGTCTCAATAAatctctagtcgtAGATCGAGACCCGACGC chr18:58030284-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Reference T aaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa CTATGGAGTCGG CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAActatggagtcggAGATCGAGACCCGACGC chr18:58030285-Reference-T;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Reference T aaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa ACTGAGGCTAAT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAactgaggctaatAGATCGAGACCCGACGC chr18:58030285-Reference-T;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Variant A aaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa AGCGTTAACGAA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAagcgttaacgaaAGATCGAGACCCGACGC chr18:58030285-Variant-A;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Variant A aaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GTAGTGTACGCG CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgtagtgtacgcgAGATCGAGACCCGACGC chr18:58030285-Variant-A;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Variant A aaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GCGATTATTGGT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgcgattattggtAGATCGAGACCCGACGC chr18:58030285-Variant-A;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative C aaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa ACTCTTCGAGAA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAactcttcgagaaAGATCGAGACCCGACGC chr18:58030285-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Variant A aaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa ACGCGAACGCAA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAacgcgaacgcaaAGATCGAGACCCGACGC chr18:58030285-Variant-A;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Reference T aaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GGATCTGCGGAT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAggatctgcggatAGATCGAGACCCGACGC chr18:58030285-Reference-T;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Variant A aaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GCAGGCCTTAGT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagAacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgcaggccttagtAGATCGAGACCCGACGC chr18:58030285-Variant-A;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Reference T aaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GTCAACGTGTTA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgtcaacgtgttaAGATCGAGACCCGACGC chr18:58030285-Reference-T;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative C aaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa AGATGCTTCGCA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAagatgcttcgcaAGATCGAGACCCGACGC chr18:58030285-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative C aaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GTGTATCAGTGT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgtgtatcagtgtAGATCGAGACCCGACGC chr18:58030285-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative G aaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa ACTTGAGTTGCA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAacttgagttgcaAGATCGAGACCCGACGC chr18:58030285-Alternative-G;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Reference T aaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GACGAGTGGATA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagTacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgacgagtggataAGATCGAGACCCGACGC chr18:58030285-Reference-T;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative C aaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa AGCGTCGGAACA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAagcgtcggaacaAGATCGAGACCCGACGC chr18:58030285-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative C aaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa CACGCATAAGAA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagCacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAcacgcataagaaAGATCGAGACCCGACGC chr18:58030285-Alternative-C;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative G aaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa ATACGTCCTAGA CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAatacgtcctagaAGATCGAGACCCGACGC chr18:58030285-Alternative-G;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative G aaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GGTTCACTTCGC CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAggttcacttcgcAGATCGAGACCCGACGC chr18:58030285-Alternative-G;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative G aaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GGCGTATCCTGT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAggcgtatcctgtAGATCGAGACCCGACGC chr18:58030285-Alternative-G;Patient-25 chr18:58030285-TA Inherited Patient-25 intergenic 3.2e-05 0.000513 -0.2 0.73 -3.01 MC4R 9715 Alternative G aaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaa GACCTGCTCGTT CGACGCGGTCTCTCTCTaaattttagaacaattaacatttttggtgataacaaattatcctttggagGacagatatgcccatgtattatgttcaaatatatttacataaaaatgtaaAGAGGGAGACGGACGTCTCAATAAgacctgctcgttAGATCGAGACCCGACGC chr18:58030285-Alternative-G;Patient-25 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative C atcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GAGCAGTATAGT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAgagcagtatagtAGATCGAGACCCGACGC chr18:58126491-Alternative-C;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Variant A atcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt AGTCGCACGAAC CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAagtcgcacgaacAGATCGAGACCCGACGC chr18:58126491-Variant-A;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative G atcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GACGTCAGACCT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAgacgtcagacctAGATCGAGACCCGACGC chr18:58126491-Alternative-G;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative G atcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt CGTGCTGGAATT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAcgtgctggaattAGATCGAGACCCGACGC chr18:58126491-Alternative-G;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative G atcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ACGACGAATTGC CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAacgacgaattgcAGATCGAGACCCGACGC chr18:58126491-Alternative-G;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Variant A atcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GGCTAACTTGGT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAggctaacttggtAGATCGAGACCCGACGC chr18:58126491-Variant-A;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative C atcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GAGGTTAGGCCA CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAgaggttaggccaAGATCGAGACCCGACGC chr18:58126491-Alternative-C;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative G atcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt CGTCCACTATCG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAcgtccactatcgAGATCGAGACCCGACGC chr18:58126491-Alternative-G;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Variant A atcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ACATAACGTGCT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAacataacgtgctAGATCGAGACCCGACGC chr18:58126491-Variant-A;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Reference T atcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ACCTACAACAGG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAacctacaacaggAGATCGAGACCCGACGC chr18:58126491-Reference-T;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative C atcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ATACATTCGGAG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAatacattcggagAGATCGAGACCCGACGC chr18:58126491-Alternative-C;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Reference T atcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt CGATGTTAGGTT CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAcgatgttaggttAGATCGAGACCCGACGC chr18:58126491-Reference-T;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative C atcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt AGTTGGTCGTCG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAagttggtcgtcgAGATCGAGACCCGACGC chr18:58126491-Alternative-C;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Reference T atcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt CTGAACGGAACG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAActgaacggaacgAGATCGAGACCCGACGC chr18:58126491-Reference-T;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Variant A atcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt AGTCAACGAGCG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAagtcaacgagcgAGATCGAGACCCGACGC chr18:58126491-Variant-A;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative G atcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt CTATCGGAATGA CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagGtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAActatcggaatgaAGATCGAGACCCGACGC chr18:58126491-Alternative-G;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Reference T atcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ACACTATGTCGA CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAacactatgtcgaAGATCGAGACCCGACGC chr18:58126491-Reference-T;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Alternative C atcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GGACTTACGGAG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagCtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAggacttacggagAGATCGAGACCCGACGC chr18:58126491-Alternative-C;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Reference T atcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt ACTGTGCACAAC CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagTtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAactgtgcacaacAGATCGAGACCCGACGC chr18:58126491-Reference-T;Patient-37 chr18:58126491-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.07 1.71 -2.07 MC4R 86489 Variant A atcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgttttt GTACCTGGTAAG CGACGCGGTCTCTCTCTatcataattaatttataagcaactctgcagaaaatttttattgtgccaagAtttctcatcagacaaaattgttttgtcttccacttaggtggatgtttttAGAGGGAGACGGACGTCTCAATAAgtacctggtaagAGATCGAGACCCGACGC chr18:58126491-Variant-A;Patient-37 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Reference A taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CGACGTACGGAA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcgacgtacggaaAGATCGAGACCCGACGC chr18:60436122-Reference-A;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative T taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg ACAAGCGGACCT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAacaagcggacctAGATCGAGACCCGACGC chr18:60436122-Alternative-T;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative T taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CAACTAGTACAC CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcaactagtacacAGATCGAGACCCGACGC chr18:60436122-Alternative-T;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Reference A taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CAAGCGCCACTT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcaagcgccacttAGATCGAGACCCGACGC chr18:60436122-Reference-A;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Variant C taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg GTCGTTGTAGAT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAgtcgttgtagatAGATCGAGACCCGACGC chr18:60436122-Variant-C;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Reference A taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg AAGTGCGAGAGT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAaagtgcgagagtAGATCGAGACCCGACGC chr18:60436122-Reference-A;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Reference A taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CGATAGCGCTGT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcgatagcgctgtAGATCGAGACCCGACGC chr18:60436122-Reference-A;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Reference A taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg GTATCCTACGTT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataAttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAgtatcctacgttAGATCGAGACCCGACGC chr18:60436122-Reference-A;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Variant C taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CAAGCTAACCTA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcaagctaacctaAGATCGAGACCCGACGC chr18:60436122-Variant-C;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Variant C taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg AACGCGGAGCAA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAaacgcggagcaaAGATCGAGACCCGACGC chr18:60436122-Variant-C;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Variant C taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CATAGCTCGCGA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcatagctcgcgaAGATCGAGACCCGACGC chr18:60436122-Variant-C;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Variant C taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg GTAAGCGTCGCT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataCttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAgtaagcgtcgctAGATCGAGACCCGACGC chr18:60436122-Variant-C;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative T taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CGCGAAGACCAT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcgcgaagaccatAGATCGAGACCCGACGC chr18:60436122-Alternative-T;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative G taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg AACTCGCGATTA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAaactcgcgattaAGATCGAGACCCGACGC chr18:60436122-Alternative-G;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative T taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg GTGATACACCAC CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAgtgatacaccacAGATCGAGACCCGACGC chr18:60436122-Alternative-T;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative G taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg GTCAAGTACGCG CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAgtcaagtacgcgAGATCGAGACCCGACGC chr18:60436122-Alternative-G;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative G taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CGATATCCGAGT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAcgatatccgagtAGATCGAGACCCGACGC chr18:60436122-Alternative-G;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative G taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg CTATCCAGGAGT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAActatccaggagtAGATCGAGACCCGACGC chr18:60436122-Alternative-G;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative T taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg AGACGTCACGAA CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataTttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAagacgtcacgaaAGATCGAGACCCGACGC chr18:60436122-Alternative-T;Patient-105 chr18:60436122-AC DeNovo Patient-105 intronic PHLPP1 NA 3.85e-05 -0.19 0.74 -5.05 PHLPP1 53449 Alternative G taaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctgg AGGTGTACCTAT CGACGCGGTCTCTCTCTtaaaagcaaacaatttatgccttagtaagcttttagctatcagaattataGttttagtttataggtatcaagaaaatgatttatatgctgtattctctggAGAGGGAGACGGACGTCTCAATAAaggtgtacctatAGATCGAGACCCGACGC chr18:60436122-Alternative-G;Patient-105 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Variant A ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AGATTCGGACGG CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagattcggacggAGATCGAGACCCGACGC chr18:60438404-Variant-A;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Variant A ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AACGTAACGACC CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaacgtaacgaccAGATCGAGACCCGACGC chr18:60438404-Variant-A;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative T ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa ACCGCAATAGTC CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaccgcaatagtcAGATCGAGACCCGACGC chr18:60438404-Alternative-T;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative T ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa CTTACTCTGAAC CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActtactctgaacAGATCGAGACCCGACGC chr18:60438404-Alternative-T;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Reference G ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa GTTCGAGACATT CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttcgagacattAGATCGAGACCCGACGC chr18:60438404-Reference-G;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative T ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa ACAATTGCGAGA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacaattgcgagaAGATCGAGACCCGACGC chr18:60438404-Alternative-T;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative T ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa GCAGCTATCGGT CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcagctatcggtAGATCGAGACCCGACGC chr18:60438404-Alternative-T;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative T ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AGCGTAAGCAAG CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcTccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagcgtaagcaagAGATCGAGACCCGACGC chr18:60438404-Alternative-T;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Variant A ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AGCTTCGAACTA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagcttcgaactaAGATCGAGACCCGACGC chr18:60438404-Variant-A;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Reference G ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa CTTAACTGGCAA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActtaactggcaaAGATCGAGACCCGACGC chr18:60438404-Reference-G;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Reference G ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa CAACTCCAATCA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcaactccaatcaAGATCGAGACCCGACGC chr18:60438404-Reference-G;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Variant A ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa CACTTAACGTGA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcacttaacgtgaAGATCGAGACCCGACGC chr18:60438404-Variant-A;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Reference G ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AACGCCTTAACA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaacgccttaacaAGATCGAGACCCGACGC chr18:60438404-Reference-G;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative C ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa GCAGAATAACAC CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcagaataacacAGATCGAGACCCGACGC chr18:60438404-Alternative-C;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Reference G ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AGCCGTCGGATT CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcGccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagccgtcggattAGATCGAGACCCGACGC chr18:60438404-Reference-G;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Variant A ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa AATAGCCTTCGA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcAccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaatagccttcgaAGATCGAGACCCGACGC chr18:60438404-Variant-A;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative C ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa GACAACTCATCA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgacaactcatcaAGATCGAGACCCGACGC chr18:60438404-Alternative-C;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative C ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa ACTCTGACGGCA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactctgacggcaAGATCGAGACCCGACGC chr18:60438404-Alternative-C;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative C ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa GCCGATACAATA CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgccgatacaataAGATCGAGACCCGACGC chr18:60438404-Alternative-C;Patient-29 chr18:60438404-GA DeNovo Patient-29 intronic PHLPP1 3.3e-05 4.95e-05 0.02 2.92 0.23 PHLPP1 55731 Alternative C ggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaa ACTCTGAGTTCT CGACGCGGTCTCTCTCTggaaaatcgcttgaacccgggaggtggaggttgcagtgagccgagattgcCccattgccctccagcctgggcgacagagtgagactgtctcaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactctgagttctAGATCGAGACCCGACGC chr18:60438404-Alternative-C;Patient-29 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative G gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GCCGACCTAAGT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgccgacctaagtAGATCGAGACCCGACGC chr18:63508936-Alternative-G;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative G gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GTGTTGTCTAAG CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgtgttgtctaagAGATCGAGACCCGACGC chr18:63508936-Alternative-G;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Variant T gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat ATCTCTCGCTAA CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAatctctcgctaaAGATCGAGACCCGACGC chr18:63508936-Variant-T;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative G gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat CGAATAGACAAC CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAcgaatagacaacAGATCGAGACCCGACGC chr18:63508936-Alternative-G;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative G gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GAATGCCACTAT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgaatgccactatAGATCGAGACCCGACGC chr18:63508936-Alternative-G;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Variant T gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat CTGGTTCCAACC CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAActggttccaaccAGATCGAGACCCGACGC chr18:63508936-Variant-T;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative A gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GCGAGGTGGATT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgcgaggtggattAGATCGAGACCCGACGC chr18:63508936-Alternative-A;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Variant T gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GCGTCCGGAATA CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgcgtccggaataAGATCGAGACCCGACGC chr18:63508936-Variant-T;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Variant T gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GTTCTGTGGACG CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgttctgtggacgAGATCGAGACCCGACGC chr18:63508936-Variant-T;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative G gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat ATCGTGTTGGAT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttGttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAatcgtgttggatAGATCGAGACCCGACGC chr18:63508936-Alternative-G;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative A gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GCGTAACGGATT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgcgtaacggattAGATCGAGACCCGACGC chr18:63508936-Alternative-A;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Variant T gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat ATACGGTCGGAG CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttTttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAatacggtcggagAGATCGAGACCCGACGC chr18:63508936-Variant-T;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative A gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat CGGTGATTACAC CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAcggtgattacacAGATCGAGACCCGACGC chr18:63508936-Alternative-A;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative A gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat CTGTGTTCGTTA CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAActgtgttcgttaAGATCGAGACCCGACGC chr18:63508936-Alternative-A;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Reference C gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat ACTTGCGACATA CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAacttgcgacataAGATCGAGACCCGACGC chr18:63508936-Reference-C;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Alternative A gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat AGTAGTATCCGT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttAttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAagtagtatccgtAGATCGAGACCCGACGC chr18:63508936-Alternative-A;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Reference C gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GAGTATCGAGCG CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgagtatcgagcgAGATCGAGACCCGACGC chr18:63508936-Reference-C;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Reference C gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat ATTGCGCTGACG CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAattgcgctgacgAGATCGAGACCCGACGC chr18:63508936-Reference-C;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Reference C gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GATGCAATAGCA CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgatgcaatagcaAGATCGAGACCCGACGC chr18:63508936-Reference-C;Patient-69 chr18:63508936-CT DeNovo Patient-69 intronic CDH7 3.2e-05 4.95e-05 -0.16 0.93 -3.24 CDH7 91447 Reference C gttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatat GTACACCACCAT CGACGCGGTCTCTCTCTgttggaatttatagataggcccaagaaaattttatgagtaggtcaggtttCttaagagaggatttgcttcagaatcacttgacgagccttctaaaaatatAGAGGGAGACGGACGTCTCAATAAgtacaccaccatAGATCGAGACCCGACGC chr18:63508936-Reference-C;Patient-69 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative T aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CTCGGTGTACGA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAActcggtgtacgaAGATCGAGACCCGACGC chr18:67009210-Alternative-T;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Reference G aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc ACTGAGTCGTTA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAactgagtcgttaAGATCGAGACCCGACGC chr18:67009210-Reference-G;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Reference G aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc ATTATGGTACGG CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAattatggtacggAGATCGAGACCCGACGC chr18:67009210-Reference-G;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative T aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CATTGTCGAGCG CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcattgtcgagcgAGATCGAGACCCGACGC chr18:67009210-Alternative-T;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative C aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CTTGTTCCACGA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAActtgttccacgaAGATCGAGACCCGACGC chr18:67009210-Alternative-C;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Reference G aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc ATATACCTTGCG CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAatataccttgcgAGATCGAGACCCGACGC chr18:67009210-Reference-G;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative T aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CGTAAGCCAACC CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcgtaagccaaccAGATCGAGACCCGACGC chr18:67009210-Alternative-T;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Variant A aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc AACCAAGCGAAC CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAaaccaagcgaacAGATCGAGACCCGACGC chr18:67009210-Variant-A;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Variant A aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CGAAGGATCAAG CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcgaaggatcaagAGATCGAGACCCGACGC chr18:67009210-Variant-A;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Reference G aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc AATAGCTCGGTT CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAaatagctcggttAGATCGAGACCCGACGC chr18:67009210-Reference-G;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative C aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc GCCGTCTAACCT CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAgccgtctaacctAGATCGAGACCCGACGC chr18:67009210-Alternative-C;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Variant A aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc GCCAATCGGCTA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAgccaatcggctaAGATCGAGACCCGACGC chr18:67009210-Variant-A;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative C aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc ACTCAACCGAGT CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAactcaaccgagtAGATCGAGACCCGACGC chr18:67009210-Alternative-C;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Variant A aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CATTACTGTTCG CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcattactgttcgAGATCGAGACCCGACGC chr18:67009210-Variant-A;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative T aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CGGCGATTAGCA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcggcgattagcaAGATCGAGACCCGACGC chr18:67009210-Alternative-T;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative C aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CAACCGTGCGAA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcaaccgtgcgaaAGATCGAGACCCGACGC chr18:67009210-Alternative-C;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative T aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CATCCATTCGAC CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaTaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcatccattcgacAGATCGAGACCCGACGC chr18:67009210-Alternative-T;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Variant A aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc CACGAATTGACC CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaAaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAcacgaattgaccAGATCGAGACCCGACGC chr18:67009210-Variant-A;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Alternative C aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc AATGCACCGTAA CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaCaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAaatgcaccgtaaAGATCGAGACCCGACGC chr18:67009210-Alternative-C;Patient-93 chr18:67009210-GA Inherited Patient-93 intergenic 0.000319 0.00103 -0.16 0.9 -3.2 DOK6 59073 Reference G aatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttc AACGAGGCGGAT CGACGCGGTCTCTCTCTaatttctgttgcaatgaatgttgtaaaatgtaaacttttataaatatagaGaaataaaaagtgtgaagtctctttaaaatcttagtagaatggtgctttcAGAGGGAGACGGACGTCTCAATAAaacgaggcggatAGATCGAGACCCGACGC chr18:67009210-Reference-G;Patient-93 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Variant G tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GGAACACGACAC CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAggaacacgacacAGATCGAGACCCGACGC chr18:67911163-Variant-G;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Variant G tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GCGGATATGACG CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgcggatatgacgAGATCGAGACCCGACGC chr18:67911163-Variant-G;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Variant G tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GTGTTGAGTAGA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgtgttgagtagaAGATCGAGACCCGACGC chr18:67911163-Variant-G;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Variant G tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac ACGATCCGGACA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAacgatccggacaAGATCGAGACCCGACGC chr18:67911163-Variant-G;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Reference A tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GCGAAGGAACGT CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgcgaaggaacgtAGATCGAGACCCGACGC chr18:67911163-Reference-A;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative T tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CGAGTCGGATGA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAcgagtcggatgaAGATCGAGACCCGACGC chr18:67911163-Alternative-T;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative C tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CAGTACCTGTGG CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAcagtacctgtggAGATCGAGACCCGACGC chr18:67911163-Alternative-C;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Reference A tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GAATTAATCGGC CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgaattaatcggcAGATCGAGACCCGACGC chr18:67911163-Reference-A;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Variant G tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CATCGCGATCGT CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaGaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAcatcgcgatcgtAGATCGAGACCCGACGC chr18:67911163-Variant-G;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative T tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GGTGTTAGATGA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAggtgttagatgaAGATCGAGACCCGACGC chr18:67911163-Alternative-T;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative C tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac AGTGACATACGA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAagtgacatacgaAGATCGAGACCCGACGC chr18:67911163-Alternative-C;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative T tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac ACGCAACGCCTA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAacgcaacgcctaAGATCGAGACCCGACGC chr18:67911163-Alternative-T;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative C tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GAATGCACCGTC CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgaatgcaccgtcAGATCGAGACCCGACGC chr18:67911163-Alternative-C;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Reference A tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac ATTCTTGCGGAA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAattcttgcggaaAGATCGAGACCCGACGC chr18:67911163-Reference-A;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Reference A tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GTCGATGCTATA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgtcgatgctataAGATCGAGACCCGACGC chr18:67911163-Reference-A;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative T tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CACATACGGTCA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAcacatacggtcaAGATCGAGACCCGACGC chr18:67911163-Alternative-T;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative T tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CATTACGGAATC CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaTaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAcattacggaatcAGATCGAGACCCGACGC chr18:67911163-Alternative-T;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Reference A tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac CTACAAGTACAC CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaAaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAActacaagtacacAGATCGAGACCCGACGC chr18:67911163-Reference-A;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative C tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GCATAACATCCA CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgcataacatccaAGATCGAGACCCGACGC chr18:67911163-Alternative-C;Patient-54 chr18:67911163-AG DeNovo Patient-54 intergenic 0.000324 0.000513 0.18 5.53 1.9 RTTN 38200 Alternative C tacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgac GTACGTCTAAGT CGACGCGGTCTCTCTCTtacaacataatattccctcccctttgccctagcaaagaatttaaaaaaaaCaaagaaagaaagaaaagaaaaagaaaagactatcgcatgaatttctgacAGAGGGAGACGGACGTCTCAATAAgtacgtctaagtAGATCGAGACCCGACGC chr18:67911163-Alternative-C;Patient-54 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative C gtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca GTAATATCTGCG CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAgtaatatctgcgAGATCGAGACCCGACGC chr18:6875967-Alternative-C;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Variant A gtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca AGCGCTGAACGT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAagcgctgaacgtAGATCGAGACCCGACGC chr18:6875967-Variant-A;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Variant A gtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca CGACGCAGTAAG CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAcgacgcagtaagAGATCGAGACCCGACGC chr18:6875967-Variant-A;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative T gtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca GTACCAAGCGGT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAgtaccaagcggtAGATCGAGACCCGACGC chr18:6875967-Alternative-T;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative T gtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca CGACAATTATGC CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAcgacaattatgcAGATCGAGACCCGACGC chr18:6875967-Alternative-T;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Reference G gtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca AGTGTCGGCGAA CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAagtgtcggcgaaAGATCGAGACCCGACGC chr18:6875967-Reference-G;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Reference G gtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca CGGCAGCATGTT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAcggcagcatgttAGATCGAGACCCGACGC chr18:6875967-Reference-G;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Reference G gtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca CTTAGGCATTCA CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAActtaggcattcaAGATCGAGACCCGACGC chr18:6875967-Reference-G;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Reference G gtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ATCTTAGGCTGA CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAatcttaggctgaAGATCGAGACCCGACGC chr18:6875967-Reference-G;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Reference G gtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca GTCGTTCAACTT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacGttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAgtcgttcaacttAGATCGAGACCCGACGC chr18:6875967-Reference-G;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative C gtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ACCGTAACCGAC CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAaccgtaaccgacAGATCGAGACCCGACGC chr18:6875967-Alternative-C;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative C gtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ATAGCCGAACCG CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAatagccgaaccgAGATCGAGACCCGACGC chr18:6875967-Alternative-C;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative C gtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca AGATGTCTGACG CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAagatgtctgacgAGATCGAGACCCGACGC chr18:6875967-Alternative-C;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Variant A gtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca CTAGCGTCGCTT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAActagcgtcgcttAGATCGAGACCCGACGC chr18:6875967-Variant-A;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Variant A gtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca GATAGGATCTTC CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAgataggatcttcAGATCGAGACCCGACGC chr18:6875967-Variant-A;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Variant A gtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ATCTATCCGGAC CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacAttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAatctatccggacAGATCGAGACCCGACGC chr18:6875967-Variant-A;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative T gtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca AGCGCAAGTAGA CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAagcgcaagtagaAGATCGAGACCCGACGC chr18:6875967-Alternative-T;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative T gtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca GGTGAGTACAAT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAggtgagtacaatAGATCGAGACCCGACGC chr18:6875967-Alternative-T;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative T gtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ACGCAGCTTCCT CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacTttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAacgcagcttcctAGATCGAGACCCGACGC chr18:6875967-Alternative-T;Patient-45 chr18:6875967-GA Inherited Patient-45 intronic ARHGAP28 0.00035 0.000594 0.14 4.96 2.07 ARHGAP28 41534 Alternative C gtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgcca ACACTTCGTAAG CGACGCGGTCTCTCTCTgtataactgctataaatctctactttctcatttgcatgtcggaggataacCttgacgtcataggatggttatgaacatttaacacagcattcaagtgccaAGAGGGAGACGGACGTCTCAATAAacacttcgtaagAGATCGAGACCCGACGC chr18:6875967-Alternative-C;Patient-45 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Reference C cctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AGATCGCATAGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAagatcgcatagtAGATCGAGACCCGACGC chr18:71803976-Reference-C;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Reference C cctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GGTGGAGTGAGA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAggtggagtgagaAGATCGAGACCCGACGC chr18:71803976-Reference-C;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Reference C cctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GCAAGCTAGCCA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgcaagctagccaAGATCGAGACCCGACGC chr18:71803976-Reference-C;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Reference C cctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga CTAGTCAAGCTA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAActagtcaagctaAGATCGAGACCCGACGC chr18:71803976-Reference-C;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Variant T cctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GTCGAATCGCGA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgtcgaatcgcgaAGATCGAGACCCGACGC chr18:71803976-Variant-T;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative A cctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GGTTGACGAGGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAggttgacgaggtAGATCGAGACCCGACGC chr18:71803976-Alternative-A;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative A cctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga CGTTCACTTAGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAcgttcacttagtAGATCGAGACCCGACGC chr18:71803976-Alternative-A;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative A cctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AACGACGTAAGA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAaacgacgtaagaAGATCGAGACCCGACGC chr18:71803976-Alternative-A;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Reference C cctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GACGACTTCATA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagCgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgacgacttcataAGATCGAGACCCGACGC chr18:71803976-Reference-C;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative A cctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AAGGTGTTACCT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAaaggtgttacctAGATCGAGACCCGACGC chr18:71803976-Alternative-A;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative A cctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga CAGGTGGAGTGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagAgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAcaggtggagtgtAGATCGAGACCCGACGC chr18:71803976-Alternative-A;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Variant T cctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga ACTTGATGCGGC CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAacttgatgcggcAGATCGAGACCCGACGC chr18:71803976-Variant-T;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Variant T cctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga CTAACCGGATGG CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAActaaccggatggAGATCGAGACCCGACGC chr18:71803976-Variant-T;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative G cctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GCCGAATACGGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgccgaatacggtAGATCGAGACCCGACGC chr18:71803976-Alternative-G;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative G cctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GCGGACTGGATA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgcggactggataAGATCGAGACCCGACGC chr18:71803976-Alternative-G;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Variant T cctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AACAACTGTTCG CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAaacaactgttcgAGATCGAGACCCGACGC chr18:71803976-Variant-T;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Variant T cctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AACTATACGCGC CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagTgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAaactatacgcgcAGATCGAGACCCGACGC chr18:71803976-Variant-T;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative G cctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga GTAGTGGATAGT CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAgtagtggatagtAGATCGAGACCCGACGC chr18:71803976-Alternative-G;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative G cctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AGACGACACGCA CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAagacgacacgcaAGATCGAGACCCGACGC chr18:71803976-Alternative-G;Patient-72 chr18:71803976-CT DeNovo Patient-72 intronic FBXO15 9.6e-05 9.9e-05 -0.52 0.07 -5.79 FBXO15 11123 Alternative G cctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtga AATGGTTATCGC CGACGCGGTCTCTCTCTcctatttctatgatctcagaattctataaaacacagtaataatctgaaagGgactagaaagtatcactagtgtcaagaagtcaggagtgcgcctctgtgaAGAGGGAGACGGACGTCTCAATAAaatggttatcgcAGATCGAGACCCGACGC chr18:71803976-Alternative-G;Patient-72 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative T gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CGGATGCGCTAA CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcggatgcgctaaAGATCGAGACCCGACGC chr18:720302-Alternative-T;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative C gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AGCAGCACATAA CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAagcagcacataaAGATCGAGACCCGACGC chr18:720302-Alternative-C;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Variant A gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AGGCGTGGAGAT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAaggcgtggagatAGATCGAGACCCGACGC chr18:720302-Variant-A;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Variant A gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CAGTTCTAACAG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcagttctaacagAGATCGAGACCCGACGC chr18:720302-Variant-A;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative C gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CAACGCATTCGG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcaacgcattcggAGATCGAGACCCGACGC chr18:720302-Alternative-C;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative T gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CGATCCGTGCTT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcgatccgtgcttAGATCGAGACCCGACGC chr18:720302-Alternative-T;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative C gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CTGGTGACGTGT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAActggtgacgtgtAGATCGAGACCCGACGC chr18:720302-Alternative-C;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Variant A gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CAGCAATCAACG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcagcaatcaacgAGATCGAGACCCGACGC chr18:720302-Variant-A;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Variant A gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AACGGTGATCAT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAaacggtgatcatAGATCGAGACCCGACGC chr18:720302-Variant-A;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative C gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AGCAGGACGTGT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAagcaggacgtgtAGATCGAGACCCGACGC chr18:720302-Alternative-C;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Variant A gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc ATCGGTAATTCG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcAtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAatcggtaattcgAGATCGAGACCCGACGC chr18:720302-Variant-A;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative C gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc ACTTGCTTCGAT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcCtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAacttgcttcgatAGATCGAGACCCGACGC chr18:720302-Alternative-C;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative T gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AAGACGTTCCTA CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAaagacgttcctaAGATCGAGACCCGACGC chr18:720302-Alternative-T;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative T gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CTGCGGTTCCAT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAActgcggttccatAGATCGAGACCCGACGC chr18:720302-Alternative-T;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Alternative T gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc ATTCGGACAGCG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcTtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAattcggacagcgAGATCGAGACCCGACGC chr18:720302-Alternative-T;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Reference G gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CGCTAATCAACT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcgctaatcaactAGATCGAGACCCGACGC chr18:720302-Reference-G;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Reference G gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CAATAGGAGGTT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAcaataggaggttAGATCGAGACCCGACGC chr18:720302-Reference-G;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Reference G gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc CTACACCTAGTT CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAActacacctagttAGATCGAGACCCGACGC chr18:720302-Reference-G;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Reference G gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc GCATGTCTAACA CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAgcatgtctaacaAGATCGAGACCCGACGC chr18:720302-Reference-G;Patient-54 chr18:720302-GA DeNovo Patient-54 intergenic 0.000192 0.00103 -0.57 0.05 0 TYMS 62697 Reference G gagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagc AACGTGTCTCGG CGACGCGGTCTCTCTCTgagatggggtttcaccatgttaaccaggatggtcttgatctcctgacctcGtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagcAGAGGGAGACGGACGTCTCAATAAaacgtgtctcggAGATCGAGACCCGACGC chr18:720302-Reference-G;Patient-54 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative G tttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt GCATTGGCGTGT CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAgcattggcgtgtAGATCGAGACCCGACGC chr18:721815-Alternative-G;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative G tttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AACGGCCTTAAG CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAaacggccttaagAGATCGAGACCCGACGC chr18:721815-Alternative-G;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative G tttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt CGAAGGACGCTA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAcgaaggacgctaAGATCGAGACCCGACGC chr18:721815-Alternative-G;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Variant C tttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt CGATGAAGTACC CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAcgatgaagtaccAGATCGAGACCCGACGC chr18:721815-Variant-C;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Variant C tttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AAGTACCTCGGC CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAaagtacctcggcAGATCGAGACCCGACGC chr18:721815-Variant-C;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Variant C tttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AGATAGCGCATA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAagatagcgcataAGATCGAGACCCGACGC chr18:721815-Variant-C;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Variant C tttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt ATCCTGGTCACT CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAatcctggtcactAGATCGAGACCCGACGC chr18:721815-Variant-C;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative A tttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt GTCGTTACGTGG CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAgtcgttacgtggAGATCGAGACCCGACGC chr18:721815-Alternative-A;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative A tttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt ACGTGTAGATGA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAacgtgtagatgaAGATCGAGACCCGACGC chr18:721815-Alternative-A;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Reference T tttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt CTATCCTGTCGG CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAActatcctgtcggAGATCGAGACCCGACGC chr18:721815-Reference-T;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative A tttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AGGTAGCGAATA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAaggtagcgaataAGATCGAGACCCGACGC chr18:721815-Alternative-A;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Reference T tttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AGGTGACCGCTT CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAaggtgaccgcttAGATCGAGACCCGACGC chr18:721815-Reference-T;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative A tttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt AGAACCTGGCGA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAagaacctggcgaAGATCGAGACCCGACGC chr18:721815-Alternative-A;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative A tttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt ACTTGGTCCGCT CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataAtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAacttggtccgctAGATCGAGACCCGACGC chr18:721815-Alternative-A;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Variant C tttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt GGTTCGTTACTA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataCtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAggttcgttactaAGATCGAGACCCGACGC chr18:721815-Variant-C;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Reference T tttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt CGATAGTGTACG CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAcgatagtgtacgAGATCGAGACCCGACGC chr18:721815-Reference-T;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Reference T tttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt ACCGATCCTAGA CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAaccgatcctagaAGATCGAGACCCGACGC chr18:721815-Reference-T;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Reference T tttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt CTAGCGGAGGTT CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataTtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAActagcggaggttAGATCGAGACCCGACGC chr18:721815-Reference-T;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative G tttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt ATTATTAGCGGC CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAattattagcggcAGATCGAGACCCGACGC chr18:721815-Alternative-G;Patient-30 chr18:721815-TC Inherited Patient-30 3 prime UTR YES1 0.000573 0.000479 NA NA NA YES1 90423 Alternative G tttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgt GTCATACGCCAC CGACGCGGTCTCTCTCTtttttatttcaattatccacaaaacaatattacaatactttataaaaataGtaagtttaggctaccattattcatttaaaaaagtgtgctagaaggctgtAGAGGGAGACGGACGTCTCAATAAgtcatacgccacAGATCGAGACCCGACGC chr18:721815-Alternative-G;Patient-30 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Variant A ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa ACACGTACTACC CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAacacgtactaccAGATCGAGACCCGACGC chr18:72249791-Variant-A;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative T ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CGCGTAATCGCA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcgcgtaatcgcaAGATCGAGACCCGACGC chr18:72249791-Alternative-T;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Variant A ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GAGTTACGGTCC CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgagttacggtccAGATCGAGACCCGACGC chr18:72249791-Variant-A;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Variant A ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CGTACTGCTTCG CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcgtactgcttcgAGATCGAGACCCGACGC chr18:72249791-Variant-A;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative C ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa AGAGCATTCGTC CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAagagcattcgtcAGATCGAGACCCGACGC chr18:72249791-Alternative-C;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative C ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa AACACCACGTAA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAaacaccacgtaaAGATCGAGACCCGACGC chr18:72249791-Alternative-C;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Reference G ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GATTCACGCATA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgattcacgcataAGATCGAGACCCGACGC chr18:72249791-Reference-G;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative T ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GATATAGGCTGA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgatataggctgaAGATCGAGACCCGACGC chr18:72249791-Alternative-T;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Reference G ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CGGTCGAACTTA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcggtcgaacttaAGATCGAGACCCGACGC chr18:72249791-Reference-G;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Reference G ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GTAGATGCCGGT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgtagatgccggtAGATCGAGACCCGACGC chr18:72249791-Reference-G;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Reference G ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GCATCCGGCTAT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgcatccggctatAGATCGAGACCCGACGC chr18:72249791-Reference-G;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative T ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GTTCTAACCTGG CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgttctaacctggAGATCGAGACCCGACGC chr18:72249791-Alternative-T;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative C ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GAGGTTACCGTC CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgaggttaccgtcAGATCGAGACCCGACGC chr18:72249791-Alternative-C;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative T ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CGAGCAGTTGAG CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcgagcagttgagAGATCGAGACCCGACGC chr18:72249791-Alternative-T;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative T ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa AGCGGATAGACA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagTgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAagcggatagacaAGATCGAGACCCGACGC chr18:72249791-Alternative-T;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Reference G ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CAACGAGTGAAT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagGgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcaacgagtgaatAGATCGAGACCCGACGC chr18:72249791-Reference-G;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative C ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa GTAGCGTTCCGT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAgtagcgttccgtAGATCGAGACCCGACGC chr18:72249791-Alternative-C;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Alternative C ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CTGTGCGCTCTT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagCgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAActgtgcgctcttAGATCGAGACCCGACGC chr18:72249791-Alternative-C;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Variant A ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CGATTGTTACCT CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAAcgattgttacctAGATCGAGACCCGACGC chr18:72249791-Variant-A;Patient-20 chr18:72249791-GA DeNovo Patient-20 intronic CNDP1 NA 4.95e-05 -0.03 2.23 0.54 CNDP1 48115 Variant A ccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaa CTATACCGGCCA CGACGCGGTCTCTCTCTccaaagaagtcccacttccataatatttaattcatgaagaaacaatatagAgacattgtcttgtgtcgtgccaaaaatgcatgacctcttgcaatcacaaAGAGGGAGACGGACGTCTCAATAActataccggccaAGATCGAGACCCGACGC chr18:72249791-Variant-A;Patient-20 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Reference G gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg AACCGGACGAGA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAaaccggacgagaAGATCGAGACCCGACGC chr18:732299-Reference-G;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative T gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg CAAGGAGGTAGG CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAcaaggaggtaggAGATCGAGACCCGACGC chr18:732299-Alternative-T;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative T gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg AACTCCGGACAG CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAaactccggacagAGATCGAGACCCGACGC chr18:732299-Alternative-T;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative T gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACGCTACGATTA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAacgctacgattaAGATCGAGACCCGACGC chr18:732299-Alternative-T;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Reference G gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg CTCGGCGTTATA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAActcggcgttataAGATCGAGACCCGACGC chr18:732299-Reference-G;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Reference G gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg CTTGGTTGAGCG CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAActtggttgagcgAGATCGAGACCCGACGC chr18:732299-Reference-G;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative T gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg GTCCGTGCAAGT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAgtccgtgcaagtAGATCGAGACCCGACGC chr18:732299-Alternative-T;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Reference G gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACGCTTCTCACA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAacgcttctcacaAGATCGAGACCCGACGC chr18:732299-Reference-G;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Reference G gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACGGTCTAGCTA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggGtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAacggtctagctaAGATCGAGACCCGACGC chr18:732299-Reference-G;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative A gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg GATGTTCGTCAA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAgatgttcgtcaaAGATCGAGACCCGACGC chr18:732299-Alternative-A;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative T gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACTGTCGTCGCT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggTtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAactgtcgtcgctAGATCGAGACCCGACGC chr18:732299-Alternative-T;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative A gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACCTAACGCTTC CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAacctaacgcttcAGATCGAGACCCGACGC chr18:732299-Alternative-A;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative A gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg GCGTTGCGGTAA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAgcgttgcggtaaAGATCGAGACCCGACGC chr18:732299-Alternative-A;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative A gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg GTAATCTCGTCT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAgtaatctcgtctAGATCGAGACCCGACGC chr18:732299-Alternative-A;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Alternative A gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg CTCATTCTGCGG CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggAtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAActcattctgcggAGATCGAGACCCGACGC chr18:732299-Alternative-A;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Variant C gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg AACGAGTGGTCT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAaacgagtggtctAGATCGAGACCCGACGC chr18:732299-Variant-C;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Variant C gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg AGAATGCCTAAC CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAagaatgcctaacAGATCGAGACCCGACGC chr18:732299-Variant-C;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Variant C gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg AACAAGAGAGCA CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAaacaagagagcaAGATCGAGACCCGACGC chr18:732299-Variant-C;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Variant C gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ACAGCAATGCTT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAacagcaatgcttAGATCGAGACCCGACGC chr18:732299-Variant-C;Patient-91 chr18:732299-GC Inherited Patient-91 intronic YES1 0.000578 0.000197961 -0.29 0.39 -0.47 TYMS 74694 Variant C gccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcagg ATCATGCGGCGT CGACGCGGTCTCTCTCTgccaacatggcaaaaccccatctctactaaaaatacaaaaaattagctggCtgtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggAGAGGGAGACGGACGTCTCAATAAatcatgcggcgtAGATCGAGACCCGACGC chr18:732299-Variant-C;Patient-91 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative T gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CGCGTTAGGCTT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcgcgttaggcttAGATCGAGACCCGACGC chr18:76658755-Alternative-T;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Variant A gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt ACCACATTCGGC CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAaccacattcggcAGATCGAGACCCGACGC chr18:76658755-Variant-A;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative T gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt GCGGCTGTATCA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAgcggctgtatcaAGATCGAGACCCGACGC chr18:76658755-Alternative-T;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative T gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt ACCGTACGCATA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAaccgtacgcataAGATCGAGACCCGACGC chr18:76658755-Alternative-T;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative T gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CGCATTGGTCCT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcgcattggtcctAGATCGAGACCCGACGC chr18:76658755-Alternative-T;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Reference C gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CGGACGAGAGAT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcggacgagagatAGATCGAGACCCGACGC chr18:76658755-Reference-C;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative T gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt GTTAGGTGGTCA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaTcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAgttaggtggtcaAGATCGAGACCCGACGC chr18:76658755-Alternative-T;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative G gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt AGACGACCAATA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAagacgaccaataAGATCGAGACCCGACGC chr18:76658755-Alternative-G;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Reference C gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CGGTATGAACTT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcggtatgaacttAGATCGAGACCCGACGC chr18:76658755-Reference-C;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Reference C gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt GTTAGACCAACG CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAgttagaccaacgAGATCGAGACCCGACGC chr18:76658755-Reference-C;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Reference C gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt ATCATGGAGCAA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAatcatggagcaaAGATCGAGACCCGACGC chr18:76658755-Reference-C;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Variant A gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt GCGTAACTCTGA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAgcgtaactctgaAGATCGAGACCCGACGC chr18:76658755-Variant-A;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Reference C gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CATGACCTAGAT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaCcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcatgacctagatAGATCGAGACCCGACGC chr18:76658755-Reference-C;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Variant A gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CTCAAGCGGTCT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAActcaagcggtctAGATCGAGACCCGACGC chr18:76658755-Variant-A;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative G gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt AATGGCGCAAGA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAaatggcgcaagaAGATCGAGACCCGACGC chr18:76658755-Alternative-G;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Variant A gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CGGCAACGAGAT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcggcaacgagatAGATCGAGACCCGACGC chr18:76658755-Variant-A;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Variant A gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CATAAGGTGACA CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaAcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAcataaggtgacaAGATCGAGACCCGACGC chr18:76658755-Variant-A;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative G gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt CTCATTCGGCAG CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAActcattcggcagAGATCGAGACCCGACGC chr18:76658755-Alternative-G;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative G gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt ACTCCTACACAC CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAactcctacacacAGATCGAGACCCGACGC chr18:76658755-Alternative-G;Patient-89 chr18:76658755-CA Inherited Patient-89 intergenic NA 0.000513 0.11 4.44 1.05 SALL3 81519 Alternative G gcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgt GGCTCATAATGT CGACGCGGTCTCTCTCTgcccgtcatgatgaagatgatgacgatgaccatcatgggagtggtggggaGcctggagactgtgaagccccagcatcgtgatgatgataatgaccatcgtAGAGGGAGACGGACGTCTCAATAAggctcataatgtAGATCGAGACCCGACGC chr18:76658755-Alternative-G;Patient-89 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Reference G gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GGATCAACAACT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAggatcaacaactAGATCGAGACCCGACGC chr18:77249797-Reference-G;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Reference G gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg CGGCTTGTAACG CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAcggcttgtaacgAGATCGAGACCCGACGC chr18:77249797-Reference-G;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative C gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg AGTTCCGACGAC CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAagttccgacgacAGATCGAGACCCGACGC chr18:77249797-Alternative-C;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative T gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg CGATTGTAACGT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAcgattgtaacgtAGATCGAGACCCGACGC chr18:77249797-Alternative-T;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative T gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg ATTCGAGCGTAA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAattcgagcgtaaAGATCGAGACCCGACGC chr18:77249797-Alternative-T;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative C gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg CAGTTCCACGAG CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAcagttccacgagAGATCGAGACCCGACGC chr18:77249797-Alternative-C;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative C gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg AGCATCCGAACG CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAagcatccgaacgAGATCGAGACCCGACGC chr18:77249797-Alternative-C;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative C gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GAGTCATACTGA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgagtcatactgaAGATCGAGACCCGACGC chr18:77249797-Alternative-C;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Variant A gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GTAGTCGATTCA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgtagtcgattcaAGATCGAGACCCGACGC chr18:77249797-Variant-A;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Variant A gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GTACGTGCGGAT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgtacgtgcggatAGATCGAGACCCGACGC chr18:77249797-Variant-A;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Variant A gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GCGTATAGATGA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgcgtatagatgaAGATCGAGACCCGACGC chr18:77249797-Variant-A;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Variant A gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GTAGCCACGTAC CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgtagccacgtacAGATCGAGACCCGACGC chr18:77249797-Variant-A;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Variant A gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GCCTTCGACGAA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactAttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgccttcgacgaaAGATCGAGACCCGACGC chr18:77249797-Variant-A;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative T gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg CTCATCGTAGTT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAActcatcgtagttAGATCGAGACCCGACGC chr18:77249797-Alternative-T;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Reference G gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GACGACATCGTC CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgacgacatcgtcAGATCGAGACCCGACGC chr18:77249797-Reference-G;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative T gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg ACCAAGTTCACA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAaccaagttcacaAGATCGAGACCCGACGC chr18:77249797-Alternative-T;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Reference G gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg GTGACGACCAGA CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAgtgacgaccagaAGATCGAGACCCGACGC chr18:77249797-Reference-G;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative C gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg ACGAATTCGGTT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactCttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAacgaattcggttAGATCGAGACCCGACGC chr18:77249797-Alternative-C;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Alternative T gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg CTACGTACATGG CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactTttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAActacgtacatggAGATCGAGACCCGACGC chr18:77249797-Alternative-T;Patient-33 chr18:77249797-GA DeNovo Patient-33 intronic NFATC1 0.000446 4.95e-05 NA NA NA NFATC1 94024 Reference G gccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctgg ATCCTGGCTAAT CGACGCGGTCTCTCTCTgccggtcctgggaccttgagcacagaccccgagcgccagccctgcacactGttctggtcacagtttatgggtcctgtgtgcttctgcctccataacctggAGAGGGAGACGGACGTCTCAATAAatcctggctaatAGATCGAGACCCGACGC chr18:77249797-Reference-G;Patient-33 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative C aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CAGTCGTATCGG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcagtcgtatcggAGATCGAGACCCGACGC chr18:77407708-Alternative-C;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Reference A aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CTCTCTGTATGT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAActctctgtatgtAGATCGAGACCCGACGC chr18:77407708-Reference-A;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative C aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga AATGTCGGTATC CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAaatgtcggtatcAGATCGAGACCCGACGC chr18:77407708-Alternative-C;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative C aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ACGAACTAACAG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAacgaactaacagAGATCGAGACCCGACGC chr18:77407708-Alternative-C;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative C aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CATCGCGTTCCT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcatcgcgttcctAGATCGAGACCCGACGC chr18:77407708-Alternative-C;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative C aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ATAGTCGACACG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatCtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAatagtcgacacgAGATCGAGACCCGACGC chr18:77407708-Alternative-C;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Reference A aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ATTCGCACTATC CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAattcgcactatcAGATCGAGACCCGACGC chr18:77407708-Reference-A;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Reference A aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ACGATGAAGCTT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAacgatgaagcttAGATCGAGACCCGACGC chr18:77407708-Reference-A;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Reference A aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ATTGGACCACAG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAattggaccacagAGATCGAGACCCGACGC chr18:77407708-Reference-A;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Variant G aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CACGAGATCACG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcacgagatcacgAGATCGAGACCCGACGC chr18:77407708-Variant-G;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Variant G aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga AGTTGGTTGCAT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAagttggttgcatAGATCGAGACCCGACGC chr18:77407708-Variant-G;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Variant G aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga GACCAACGAATA CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAgaccaacgaataAGATCGAGACCCGACGC chr18:77407708-Variant-G;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative T aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CAACCGATGACA CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcaaccgatgacaAGATCGAGACCCGACGC chr18:77407708-Alternative-T;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Reference A aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga GTACAATGGTGT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatAtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAgtacaatggtgtAGATCGAGACCCGACGC chr18:77407708-Reference-A;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative T aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga GTTCGATCTTGT CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAgttcgatcttgtAGATCGAGACCCGACGC chr18:77407708-Alternative-T;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Variant G aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CATATGGACCTA CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcatatggacctaAGATCGAGACCCGACGC chr18:77407708-Variant-G;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative T aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ATTCGTCAGCTA CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAattcgtcagctaAGATCGAGACCCGACGC chr18:77407708-Alternative-T;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative T aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga CATTATTCTCGG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAcattattctcggAGATCGAGACCCGACGC chr18:77407708-Alternative-T;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Alternative T aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga GATTGTGCTCGG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatTtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAgattgtgctcggAGATCGAGACCCGACGC chr18:77407708-Alternative-T;Patient-39 chr18:77407708-AG DeNovo Patient-39 intergenic 0.000733 0.000481 0.01 2.77 0.98 CTDP1 32092 Variant G aaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactga ACCTACATTAGG CGACGCGGTCTCTCTCTaaaacaattccatttacaatagcatcaaaaataataaaatagtattaaatGtaacaagacatgcaatattcgttcactgaaagctacaaaacatcactgaAGAGGGAGACGGACGTCTCAATAAacctacattaggAGATCGAGACCCGACGC chr18:77407708-Variant-G;Patient-39 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Reference G tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ACCTACAGAACG CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAacctacagaacgAGATCGAGACCCGACGC chr18:77732108-Reference-G;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Reference G tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca AGTCTCGCGTGT CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAagtctcgcgtgtAGATCGAGACCCGACGC chr18:77732108-Reference-G;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Reference G tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ACTATGTGCAGT CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAactatgtgcagtAGATCGAGACCCGACGC chr18:77732108-Reference-G;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Reference G tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CGGACTGCGATA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAcggactgcgataAGATCGAGACCCGACGC chr18:77732108-Reference-G;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Reference G tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CTGAATACGCGC CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccGtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAActgaatacgcgcAGATCGAGACCCGACGC chr18:77732108-Reference-G;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative T tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca GGCGGAGGAATA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAggcggaggaataAGATCGAGACCCGACGC chr18:77732108-Alternative-T;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative C tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CGAGATCTGCGT CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAcgagatctgcgtAGATCGAGACCCGACGC chr18:77732108-Alternative-C;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative T tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CTCGCGTTCAGA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAActcgcgttcagaAGATCGAGACCCGACGC chr18:77732108-Alternative-T;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative T tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca GACAACGGCGAT CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAgacaacggcgatAGATCGAGACCCGACGC chr18:77732108-Alternative-T;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative C tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ATCGCAGGTAGA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAatcgcaggtagaAGATCGAGACCCGACGC chr18:77732108-Alternative-C;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative C tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ACTGCTTCTTGA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAactgcttcttgaAGATCGAGACCCGACGC chr18:77732108-Alternative-C;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Variant A tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ACCGTATCACTT CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAaccgtatcacttAGATCGAGACCCGACGC chr18:77732108-Variant-A;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative T tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CTACCGCAGCTA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAActaccgcagctaAGATCGAGACCCGACGC chr18:77732108-Alternative-T;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Variant A tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CTTGATCCATAC CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAActtgatccatacAGATCGAGACCCGACGC chr18:77732108-Variant-A;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Variant A tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca GTTATCGGTAGA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAgttatcggtagaAGATCGAGACCCGACGC chr18:77732108-Variant-A;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Variant A tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca GCGGAACTTCTA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAgcggaacttctaAGATCGAGACCCGACGC chr18:77732108-Variant-A;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative C tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca ATCGAACCGAAC CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAatcgaaccgaacAGATCGAGACCCGACGC chr18:77732108-Alternative-C;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative T tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca CGAACGAGTATC CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccTtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAcgaacgagtatcAGATCGAGACCCGACGC chr18:77732108-Alternative-T;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Variant A tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca AGTTACGATCGC CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccAtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAagttacgatcgcAGATCGAGACCCGACGC chr18:77732108-Variant-A;Patient-57 chr18:77732108-GA DeNovo Patient-57 intergenic NA 0.000513 -0.18 0.84 -1.97 TXNL4A 16423 Alternative C tcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcacca GGCTGATCCTGA CGACGCGGTCTCTCTCTtcatttgtactgtatgtaaaaaatgtgcttcattctgtaagtaccctcccCtttccacaacagcaatcaatctcccgacagcagcgagccctgtgcaccaAGAGGGAGACGGACGTCTCAATAAggctgatcctgaAGATCGAGACCCGACGC chr18:77732108-Alternative-C;Patient-57 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Variant C ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg ACGAGTACGCGT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAacgagtacgcgtAGATCGAGACCCGACGC chr18:9011518-Variant-C;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Variant C ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg ACGTACGAACTT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAacgtacgaacttAGATCGAGACCCGACGC chr18:9011518-Variant-C;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative A ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CAGCATAGGCCT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAcagcataggcctAGATCGAGACCCGACGC chr18:9011518-Alternative-A;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative A ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg ACGAACAGCATA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAacgaacagcataAGATCGAGACCCGACGC chr18:9011518-Alternative-A;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Variant C ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg AGGTGTCTTAGT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAaggtgtcttagtAGATCGAGACCCGACGC chr18:9011518-Variant-C;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative A ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg GCACGATCTAAT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAgcacgatctaatAGATCGAGACCCGACGC chr18:9011518-Alternative-A;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Variant C ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CGCGACAGCTAT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAcgcgacagctatAGATCGAGACCCGACGC chr18:9011518-Variant-C;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative A ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CTGCGTTATCTA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAActgcgttatctaAGATCGAGACCCGACGC chr18:9011518-Alternative-A;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative A ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CTAACCAACCGC CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaAgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAActaaccaaccgcAGATCGAGACCCGACGC chr18:9011518-Alternative-A;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Variant C ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CTTGCGCTGAAC CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaCgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAActtgcgctgaacAGATCGAGACCCGACGC chr18:9011518-Variant-C;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Reference T ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg AAGGTGAGGTCA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAaaggtgaggtcaAGATCGAGACCCGACGC chr18:9011518-Reference-T;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative G ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg GACCGGTTCGAT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAgaccggttcgatAGATCGAGACCCGACGC chr18:9011518-Alternative-G;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Reference T ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg AACTTGAGTCAC CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAaacttgagtcacAGATCGAGACCCGACGC chr18:9011518-Reference-T;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative G ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CTAGTCATGACA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAActagtcatgacaAGATCGAGACCCGACGC chr18:9011518-Alternative-G;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Reference T ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg GCCAGGTAAGAA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAgccaggtaagaaAGATCGAGACCCGACGC chr18:9011518-Reference-T;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative G ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CGAACGCGTACA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAcgaacgcgtacaAGATCGAGACCCGACGC chr18:9011518-Alternative-G;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative G ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CGTAGCAAGATA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAcgtagcaagataAGATCGAGACCCGACGC chr18:9011518-Alternative-G;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Alternative G ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg GTTGTACGTGAT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaGgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAgttgtacgtgatAGATCGAGACCCGACGC chr18:9011518-Alternative-G;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Reference T ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg GGCGTGATTATT CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAggcgtgattattAGATCGAGACCCGACGC chr18:9011518-Reference-T;Patient-91 chr18:9011518-TC Inherited Patient-91 intergenic 0.000223 0.000513 -0.19 0.79 -1.44 NDUFV2 91109 Reference T ccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtgg CGGTCGTGTAGA CGACGCGGTCTCTCTCTccgaaggagagttagctacctgtgaggaactccccatcgagtgtgacaaaTgcataaacacgcacatacagctgggaaggcagggctgtggtgggagtggAGAGGGAGACGGACGTCTCAATAAcggtcgtgtagaAGATCGAGACCCGACGC chr18:9011518-Reference-T;Patient-91 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative T tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg GTCATGAGTGAA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAgtcatgagtgaaAGATCGAGACCCGACGC chr18:9438522-Alternative-T;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative T tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg GCGATTGCGCTT CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAgcgattgcgcttAGATCGAGACCCGACGC chr18:9438522-Alternative-T;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Reference C tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg CGAACAGCATCG CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAcgaacagcatcgAGATCGAGACCCGACGC chr18:9438522-Reference-C;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Reference C tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg AGCGTATCCGAC CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAagcgtatccgacAGATCGAGACCCGACGC chr18:9438522-Reference-C;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative T tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg AAGACTGTGCCG CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAaagactgtgccgAGATCGAGACCCGACGC chr18:9438522-Alternative-T;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative T tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg GACGTCGCTAAC CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAgacgtcgctaacAGATCGAGACCCGACGC chr18:9438522-Alternative-T;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Variant G tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ACCTTCGTTCGG CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAaccttcgttcggAGATCGAGACCCGACGC chr18:9438522-Variant-G;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative A tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg CAAGCCGCATTC CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAcaagccgcattcAGATCGAGACCCGACGC chr18:9438522-Alternative-A;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative A tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ATTCGGTACCTT CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAattcggtaccttAGATCGAGACCCGACGC chr18:9438522-Alternative-A;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative T tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ACGGCGACTAAG CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctTaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAacggcgactaagAGATCGAGACCCGACGC chr18:9438522-Alternative-T;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Variant G tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ACTAAGGCTGAA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAactaaggctgaaAGATCGAGACCCGACGC chr18:9438522-Variant-G;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Variant G tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg AACTAGTGGCTA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAaactagtggctaAGATCGAGACCCGACGC chr18:9438522-Variant-G;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Variant G tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg GAAGATCGATGA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAgaagatcgatgaAGATCGAGACCCGACGC chr18:9438522-Variant-G;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Reference C tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg AAGCGCTAGCGA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAaagcgctagcgaAGATCGAGACCCGACGC chr18:9438522-Reference-C;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative A tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ATACGATATCGG CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAatacgatatcggAGATCGAGACCCGACGC chr18:9438522-Alternative-A;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative A tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ATCGAGTCCATA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAatcgagtccataAGATCGAGACCCGACGC chr18:9438522-Alternative-A;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Variant G tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ACGATCTTCTGT CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctGaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAacgatcttctgtAGATCGAGACCCGACGC chr18:9438522-Variant-G;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Reference C tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg GGCTTAGATTGA CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAggcttagattgaAGATCGAGACCCGACGC chr18:9438522-Reference-C;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Alternative A tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg ACTGGTGCGGAT CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctAaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAactggtgcggatAGATCGAGACCCGACGC chr18:9438522-Alternative-A;Patient-20 chr18:9438522-CG DeNovo Patient-20 intergenic NA 0.000513 0.06 3.61 0.24 RALBP1 37007 Reference C tttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactg AGTGCGGTGTTC CGACGCGGTCTCTCTCTtttttttttttcatagagtcagggttttgctatgttgcccaggctggcctCaaactcctggcctcaactggtcctcccacattagcctcccaaagcactgAGAGGGAGACGGACGTCTCAATAAagtgcggtgttcAGATCGAGACCCGACGC chr18:9438522-Reference-C;Patient-20 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative T ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat AGTTCATCGGTT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAagttcatcggttAGATCGAGACCCGACGC chr18:9470573-Alternative-T;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Variant C ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat ATACGAGTCACG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAatacgagtcacgAGATCGAGACCCGACGC chr18:9470573-Variant-C;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Variant C ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GTATCGTACCTT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgtatcgtaccttAGATCGAGACCCGACGC chr18:9470573-Variant-C;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Reference G ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GGCGACATATGG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAggcgacatatggAGATCGAGACCCGACGC chr18:9470573-Reference-G;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative T ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat ACAAGATCGGCG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAacaagatcggcgAGATCGAGACCCGACGC chr18:9470573-Alternative-T;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative T ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat CGGTAGAACGCA CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAcggtagaacgcaAGATCGAGACCCGACGC chr18:9470573-Alternative-T;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative A ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GGTTCAGAATGA CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAggttcagaatgaAGATCGAGACCCGACGC chr18:9470573-Alternative-A;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative A ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat CTACGTCCATCG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAActacgtccatcgAGATCGAGACCCGACGC chr18:9470573-Alternative-A;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative A ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GATACGTTCTGA CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgatacgttctgaAGATCGAGACCCGACGC chr18:9470573-Alternative-A;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Reference G ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat CTGAGCGCGAAT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAActgagcgcgaatAGATCGAGACCCGACGC chr18:9470573-Reference-G;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative A ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GCGGTGGAACAT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgcggtggaacatAGATCGAGACCCGACGC chr18:9470573-Alternative-A;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Variant C ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GTCGGACATTAT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgtcggacattatAGATCGAGACCCGACGC chr18:9470573-Variant-C;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative T ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat CGTACCAATTGA CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAcgtaccaattgaAGATCGAGACCCGACGC chr18:9470573-Alternative-T;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative T ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat CTAAGGTAGTCT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctTggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAActaaggtagtctAGATCGAGACCCGACGC chr18:9470573-Alternative-T;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Reference G ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat ATAGTGCTACAC CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAatagtgctacacAGATCGAGACCCGACGC chr18:9470573-Reference-G;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Variant C ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat ACATCAGACCGG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAacatcagaccggAGATCGAGACCCGACGC chr18:9470573-Variant-C;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Reference G ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GATTACAGTTCG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgattacagttcgAGATCGAGACCCGACGC chr18:9470573-Reference-G;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Alternative A ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GTTGTATTCCGT CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctAggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgttgtattccgtAGATCGAGACCCGACGC chr18:9470573-Alternative-A;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Reference G ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GTGTTACCGCAG CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctGggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgtgttaccgcagAGATCGAGACCCGACGC chr18:9470573-Reference-G;Patient-37 chr18:9470573-GC DeNovo Patient-37 intergenic NA 0.000512821 0.11 4.38 0.16 RALBP1 4956 Variant C ttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaat GCGACTCTTGCA CGACGCGGTCTCTCTCTttgaactcctgaccccaggtgatctgtctgccttggcctcccaaagtgctCggattacaagcgtgagccgcccatgcccggttgatgtttgatatttaatAGAGGGAGACGGACGTCTCAATAAgcgactcttgcaAGATCGAGACCCGACGC chr18:9470573-Variant-C;Patient-37 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative A aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa AACGACCGCCTA CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAaacgaccgcctaAGATCGAGACCCGACGC chr19:11054585-Alternative-A;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative A aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CATAGGCATCAA CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAcataggcatcaaAGATCGAGACCCGACGC chr19:11054585-Alternative-A;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Reference C aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CGTGCGATTATA CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtgcgattataAGATCGAGACCCGACGC chr19:11054585-Reference-C;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Reference C aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GTCGAACATGTT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcgaacatgttAGATCGAGACCCGACGC chr19:11054585-Reference-C;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Reference C aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CACAGCGGTACT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAcacagcggtactAGATCGAGACCCGACGC chr19:11054585-Reference-C;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative A aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CGTGTTGTACTT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtgttgtacttAGATCGAGACCCGACGC chr19:11054585-Alternative-A;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative A aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa AGGACCTAACGG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggacctaacggAGATCGAGACCCGACGC chr19:11054585-Alternative-A;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Reference C aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CTTATCGTCCGG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAActtatcgtccggAGATCGAGACCCGACGC chr19:11054585-Reference-C;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Reference C aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GGTAACGTAACC CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgCgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAggtaacgtaaccAGATCGAGACCCGACGC chr19:11054585-Reference-C;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative A aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GTTCACACGGCA CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgAgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttcacacggcaAGATCGAGACCCGACGC chr19:11054585-Alternative-A;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Variant T aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa ATCTTACACAGG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAatcttacacaggAGATCGAGACCCGACGC chr19:11054585-Variant-T;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Variant T aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa ACGAAGTAATCG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgaagtaatcgAGATCGAGACCCGACGC chr19:11054585-Variant-T;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Variant T aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa ACTAGCGACGCT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAactagcgacgctAGATCGAGACCCGACGC chr19:11054585-Variant-T;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative G aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa AGGAACAACAAG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggaacaacaagAGATCGAGACCCGACGC chr19:11054585-Alternative-G;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative G aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GGCGGAGTTGTT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAggcggagttgttAGATCGAGACCCGACGC chr19:11054585-Alternative-G;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative G aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa ATAGAGTACGAC CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAatagagtacgacAGATCGAGACCCGACGC chr19:11054585-Alternative-G;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative G aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GGACCGACGTTA CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAggaccgacgttaAGATCGAGACCCGACGC chr19:11054585-Alternative-G;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Variant T aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa AAGACTGTCGTT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagactgtcgttAGATCGAGACCCGACGC chr19:11054585-Variant-T;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Variant T aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa CTATGTCTAAGG CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgTgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAActatgtctaaggAGATCGAGACCCGACGC chr19:11054585-Variant-T;Patient-93 chr19:11054585-CT Inherited Patient-93 intergenic 9.7e-05 0.000513 -0.28 0.41 0 YIPF2 15227 Alternative G aggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaa GGATCGGAATAT CGACGCGGTCTCTCTCTaggagaatcgcttgaacctgggaggcagaggttgccgtgaactgagatcgGgccactgcactccagcctgggtgacagaccaagactccctctaaaaaaaAGAGGGAGACGGACGTCTCAATAAggatcggaatatAGATCGAGACCCGACGC chr19:11054585-Alternative-G;Patient-93 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Variant T ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GGTTCCAATCGT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAggttccaatcgtAGATCGAGACCCGACGC chr19:11233671-Variant-T;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Reference G ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GACGACAACTAA CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAgacgacaactaaAGATCGAGACCCGACGC chr19:11233671-Reference-G;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Variant T ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc AGGCCGATTGTC CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAaggccgattgtcAGATCGAGACCCGACGC chr19:11233671-Variant-T;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Variant T ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CAAGTTACGAAG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcaagttacgaagAGATCGAGACCCGACGC chr19:11233671-Variant-T;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative A ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GGCAAGCGTATA CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAggcaagcgtataAGATCGAGACCCGACGC chr19:11233671-Alternative-A;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative A ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CGCTGTGATCCA CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcgctgtgatccaAGATCGAGACCCGACGC chr19:11233671-Alternative-A;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Variant T ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GTTACGAGTCAT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAgttacgagtcatAGATCGAGACCCGACGC chr19:11233671-Variant-T;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative A ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CAACGAGGCTGA CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcaacgaggctgaAGATCGAGACCCGACGC chr19:11233671-Alternative-A;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Reference G ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CACGCTATTAAG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcacgctattaagAGATCGAGACCCGACGC chr19:11233671-Reference-G;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Reference G ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GGACTCGTATGC CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAggactcgtatgcAGATCGAGACCCGACGC chr19:11233671-Reference-G;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Variant T ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GGAGGTTAAGGT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttTtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAggaggttaaggtAGATCGAGACCCGACGC chr19:11233671-Variant-T;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative A ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc AGATATAGTCGG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAagatatagtcggAGATCGAGACCCGACGC chr19:11233671-Alternative-A;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Reference G ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CATCACGGATTA CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcatcacggattaAGATCGAGACCCGACGC chr19:11233671-Reference-G;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Reference G ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc ATCTTACGCGTT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttGtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAatcttacgcgttAGATCGAGACCCGACGC chr19:11233671-Reference-G;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative A ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GTAACGACAGAT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttAtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAgtaacgacagatAGATCGAGACCCGACGC chr19:11233671-Alternative-A;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative C ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GTCTACACGCGT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAgtctacacgcgtAGATCGAGACCCGACGC chr19:11233671-Alternative-C;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative C ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CGTACATCGCAG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAcgtacatcgcagAGATCGAGACCCGACGC chr19:11233671-Alternative-C;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative C ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc CTCACGGAATGT CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAActcacggaatgtAGATCGAGACCCGACGC chr19:11233671-Alternative-C;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative C ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc GGATAGGCGAAG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAggataggcgaagAGATCGAGACCCGACGC chr19:11233671-Alternative-C;Patient-81 chr19:11233671-GT DeNovo Patient-81 intronic LDLR NA 0.000989805 -0.36 0.23 -0.4 SPC24 32812 Alternative C ggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactcc ATAACTGTGTGG CGACGCGGTCTCTCTCTggagtacaggtgtgcaccaccacacctggctaatttttttttttttttttCtatatagagatggtattttgccatgttgaccaggctagtcttaaactccAGAGGGAGACGGACGTCTCAATAAataactgtgtggAGATCGAGACCCGACGC chr19:11233671-Alternative-C;Patient-81 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative G gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ATACCAACAAGG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAataccaacaaggAGATCGAGACCCGACGC chr19:11271141-Alternative-G;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative G gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt AATCGCGCTACG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaatcgcgctacgAGATCGAGACCCGACGC chr19:11271141-Alternative-G;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative G gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CGTATGCTAACA CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAcgtatgctaacaAGATCGAGACCCGACGC chr19:11271141-Alternative-G;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Variant A gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt AATCTGCGAGTT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaatctgcgagttAGATCGAGACCCGACGC chr19:11271141-Variant-A;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative G gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt AACCGACGCTAT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaaccgacgctatAGATCGAGACCCGACGC chr19:11271141-Alternative-G;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative G gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ACTCGCCTTACG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacGatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAactcgccttacgAGATCGAGACCCGACGC chr19:11271141-Alternative-G;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative T gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CTGGTTCTAAGA CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAActggttctaagaAGATCGAGACCCGACGC chr19:11271141-Alternative-T;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative T gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CTAACCGTCAGA CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAActaaccgtcagaAGATCGAGACCCGACGC chr19:11271141-Alternative-T;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Variant A gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt GCAGCACACCTA CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAgcagcacacctaAGATCGAGACCCGACGC chr19:11271141-Variant-A;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Reference C gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CGTAAGTGGCGT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAcgtaagtggcgtAGATCGAGACCCGACGC chr19:11271141-Reference-C;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Variant A gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CTGCGAGTATCG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAActgcgagtatcgAGATCGAGACCCGACGC chr19:11271141-Variant-A;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative T gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CAGTAACGTACG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAcagtaacgtacgAGATCGAGACCCGACGC chr19:11271141-Alternative-T;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Reference C gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ACAGATTCACCG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAacagattcaccgAGATCGAGACCCGACGC chr19:11271141-Reference-C;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Reference C gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ACACAGCATTCA CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAacacagcattcaAGATCGAGACCCGACGC chr19:11271141-Reference-C;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Variant A gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ACCGAACTAAGT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaccgaactaagtAGATCGAGACCCGACGC chr19:11271141-Variant-A;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Reference C gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt AACAATGCGCGC CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaacaatgcgcgcAGATCGAGACCCGACGC chr19:11271141-Reference-C;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Variant A gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt ACGCATGAGGAC CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacAatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAacgcatgaggacAGATCGAGACCCGACGC chr19:11271141-Variant-A;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative T gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt GTAGTCTAGGCG CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAgtagtctaggcgAGATCGAGACCCGACGC chr19:11271141-Alternative-T;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Reference C gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt CATCATGGAACT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacCatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAcatcatggaactAGATCGAGACCCGACGC chr19:11271141-Reference-C;Patient-15 chr19:11271141-CA DeNovo Patient-15 intergenic NA 3.92e-05 -0.25 0.51 -2.1 SPC24 4656 Alternative T gggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgt AGGCGGCCAATT CGACGCGGTCTCTCTCTgggtgccgtttgcaaaaaagccatggaaggaactgtacacttttgtgcacTatttgtgcacagaatgtattcattttatacctgaagaaaaaagaactgtAGAGGGAGACGGACGTCTCAATAAaggcggccaattAGATCGAGACCCGACGC chr19:11271141-Alternative-T;Patient-15 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative G accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacaggg GTGTTCAATGCT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgtgttcaatgctAGATCGAGACCCGACGC chr19:11365960-Alternative-G;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative G accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacaggg CTAGACTATGAG CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAActagactatgagAGATCGAGACCCGACGC chr19:11365960-Alternative-G;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative G accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacaggg GATTCCGTGACG CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgattccgtgacgAGATCGAGACCCGACGC chr19:11365960-Alternative-G;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Variant T accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacaggg GCGTGATTCAAT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgcgtgattcaatAGATCGAGACCCGACGC chr19:11365960-Variant-T;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Variant T accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacaggg GTTACGTGGCGT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgttacgtggcgtAGATCGAGACCCGACGC chr19:11365960-Variant-T;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative G accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacaggg GATATAGCTTCG CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgatatagcttcgAGATCGAGACCCGACGC chr19:11365960-Alternative-G;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative G accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacaggg CGGTCATATCAA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggGatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAcggtcatatcaaAGATCGAGACCCGACGC chr19:11365960-Alternative-G;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Reference C accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacaggg GTGAACTCCAGT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgtgaactccagtAGATCGAGACCCGACGC chr19:11365960-Reference-C;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Reference C accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacaggg GTAGCGCACTGA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgtagcgcactgaAGATCGAGACCCGACGC chr19:11365960-Reference-C;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Reference C accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacaggg ATCATGCATCAG CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAatcatgcatcagAGATCGAGACCCGACGC chr19:11365960-Reference-C;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Reference C accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacaggg GGCGTACACTGA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAggcgtacactgaAGATCGAGACCCGACGC chr19:11365960-Reference-C;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Reference C accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacaggg AGCAGCTTCGCA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggCatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAagcagcttcgcaAGATCGAGACCCGACGC chr19:11365960-Reference-C;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative A accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacaggg CATAACGGCGCT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAcataacggcgctAGATCGAGACCCGACGC chr19:11365960-Alternative-A;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative A accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacaggg CGAACGCAAGAA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAcgaacgcaagaaAGATCGAGACCCGACGC chr19:11365960-Alternative-A;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative A accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacaggg ACTCGTACCGTC CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAactcgtaccgtcAGATCGAGACCCGACGC chr19:11365960-Alternative-A;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative A accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacaggg CGAATTGGTCAT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAcgaattggtcatAGATCGAGACCCGACGC chr19:11365960-Alternative-A;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Alternative A accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacaggg GATCGTCCAGCA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggAatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAgatcgtccagcaAGATCGAGACCCGACGC chr19:11365960-Alternative-A;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Variant T accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacaggg ATTCCGTATCCA CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAattccgtatccaAGATCGAGACCCGACGC chr19:11365960-Variant-T;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Variant T accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacaggg AATGGCGATTCT CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAaatggcgattctAGATCGAGACCCGACGC chr19:11365960-Variant-T;Patient-30 chr19:11365960-CT Inherited Patient-30 intronic DOCK6 0.000623 4.95e-05 NA NA NA DOCK6 7207 Variant T accttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacaggg CATGCCATACAG CGACGCGGTCTCTCTCTaccttaggtgacacacctgcctcagcctcccaaagtgctgggattacaggTatgagccaccgctcccggcctactttttttttttttttttgagacagggAGAGGGAGACGGACGTCTCAATAAcatgccatacagAGATCGAGACCCGACGC chr19:11365960-Variant-T;Patient-30 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Reference G aactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc ATCCTGTCGCGA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAatcctgtcgcgaAGATCGAGACCCGACGC chr19:12762428-Reference-G;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Reference G aactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc AGAGTTGTACGA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAagagttgtacgaAGATCGAGACCCGACGC chr19:12762428-Reference-G;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative T aactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc AACGCTTCGAAC CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAaacgcttcgaacAGATCGAGACCCGACGC chr19:12762428-Alternative-T;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Variant A aactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc AGGTACCGATGT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAaggtaccgatgtAGATCGAGACCCGACGC chr19:12762428-Variant-A;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative T aactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GGTACGAGTAAT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAggtacgagtaatAGATCGAGACCCGACGC chr19:12762428-Alternative-T;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Variant A aactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc CGTAGTCGTACG CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAcgtagtcgtacgAGATCGAGACCCGACGC chr19:12762428-Variant-A;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Reference G aactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GGATGACACGAA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAggatgacacgaaAGATCGAGACCCGACGC chr19:12762428-Reference-G;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Variant A aactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc ACAAGCGCCAGT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAacaagcgccagtAGATCGAGACCCGACGC chr19:12762428-Variant-A;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative T aactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GAGTAATCGTGC CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgagtaatcgtgcAGATCGAGACCCGACGC chr19:12762428-Alternative-T;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative T aactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GATTATCTGACG CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgattatctgacgAGATCGAGACCCGACGC chr19:12762428-Alternative-T;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative T aactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc AGGAGATAGTCA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacTcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAaggagatagtcaAGATCGAGACCCGACGC chr19:12762428-Alternative-T;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Reference G aactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GATCAGGAATGT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgatcaggaatgtAGATCGAGACCCGACGC chr19:12762428-Reference-G;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Reference G aactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc ACGCTCGTAGCA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacGcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAacgctcgtagcaAGATCGAGACCCGACGC chr19:12762428-Reference-G;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative C aactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc CATTAAGCGTGT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAcattaagcgtgtAGATCGAGACCCGACGC chr19:12762428-Alternative-C;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Variant A aactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GTTGATTACCGA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgttgattaccgaAGATCGAGACCCGACGC chr19:12762428-Variant-A;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative C aactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc CGACTAGTAACG CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAcgactagtaacgAGATCGAGACCCGACGC chr19:12762428-Alternative-C;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative C aactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GACTAGGCGCTA CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgactaggcgctaAGATCGAGACCCGACGC chr19:12762428-Alternative-C;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Variant A aactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc CAAGTCGTAGCG CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacAcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAcaagtcgtagcgAGATCGAGACCCGACGC chr19:12762428-Variant-A;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative C aactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc GATCGGACAACG CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAgatcggacaacgAGATCGAGACCCGACGC chr19:12762428-Alternative-C;Patient-55 chr19:12762428-GA Inherited Patient-55 intronic MAN2B1 3.2e-05 4.19e-05 -0.36 0.24 -4.07 MAN2B1 15162 Alternative C aactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtc AGCATCCAGGAT CGACGCGGTCTCTCTCTaactatatacagatatgcagacattcatctcaaagggactcacatgaaacCcgaggctcttgaatgtggacaaatgtgagttttgtcatctatgaaagtcAGAGGGAGACGGACGTCTCAATAAagcatccaggatAGATCGAGACCCGACGC chr19:12762428-Alternative-C;Patient-55 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative A tggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc CTCAATCGAGTT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAActcaatcgagttAGATCGAGACCCGACGC chr19:1281522-Alternative-A;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative A tggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GTATAGAATCGC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAgtatagaatcgcAGATCGAGACCCGACGC chr19:1281522-Alternative-A;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Variant G tggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GAGCTCTCAACG CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAgagctctcaacgAGATCGAGACCCGACGC chr19:1281522-Variant-G;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Reference C tggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc ATAAGTTCGCCA CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAataagttcgccaAGATCGAGACCCGACGC chr19:1281522-Reference-C;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative A tggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GCCGTCGCAATT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAgccgtcgcaattAGATCGAGACCCGACGC chr19:1281522-Alternative-A;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Variant G tggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc CGTAGTGACCGA CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAcgtagtgaccgaAGATCGAGACCCGACGC chr19:1281522-Variant-G;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Reference C tggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc CACTATTCGGAT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAcactattcggatAGATCGAGACCCGACGC chr19:1281522-Reference-C;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Variant G tggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc AATGAGATGCAC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAaatgagatgcacAGATCGAGACCCGACGC chr19:1281522-Variant-G;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Reference C tggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc CAGCGAATACGG CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAcagcgaatacggAGATCGAGACCCGACGC chr19:1281522-Reference-C;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Variant G tggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc ATACTTCAACGG CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAatacttcaacggAGATCGAGACCCGACGC chr19:1281522-Variant-G;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative A tggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc AGCGGAAGTATT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAagcggaagtattAGATCGAGACCCGACGC chr19:1281522-Alternative-A;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Reference C tggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc AGCGTATACACG CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAagcgtatacacgAGATCGAGACCCGACGC chr19:1281522-Reference-C;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Reference C tggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GGAGGACACATC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccCtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAggaggacacatcAGATCGAGACCCGACGC chr19:1281522-Reference-C;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative T tggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GTGATGACGGCA CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAgtgatgacggcaAGATCGAGACCCGACGC chr19:1281522-Alternative-T;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative T tggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc AACACGCCTCGT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAaacacgcctcgtAGATCGAGACCCGACGC chr19:1281522-Alternative-T;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Variant G tggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc CTCTCGGATGCT CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccGtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAActctcggatgctAGATCGAGACCCGACGC chr19:1281522-Variant-G;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative A tggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc GATGTCGGCGAA CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccAtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAgatgtcggcgaaAGATCGAGACCCGACGC chr19:1281522-Alternative-A;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative T tggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc AGGCTTCGGTTC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAaggcttcggttcAGATCGAGACCCGACGC chr19:1281522-Alternative-T;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative T tggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc ACCTGTTCAATC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAacctgttcaatcAGATCGAGACCCGACGC chr19:1281522-Alternative-T;Patient-19 chr19:1281522-CG DeNovo Patient-19 intergenic NA 0.000513 -0.07 1.76 -0.09 STK11 75723 Alternative T tggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtc ATTCTGGTTGTC CGACGCGGTCTCTCTCTtggggccgacattcatcctggggagatagagacagggctcctctgccgccTtggtgccggggtgccccagggatgtggccccatgtgccaaatcacagtcAGAGGGAGACGGACGTCTCAATAAattctggttgtcAGATCGAGACCCGACGC chr19:1281522-Alternative-T;Patient-19 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Variant G tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ATCGGTAACGCG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAatcggtaacgcgAGATCGAGACCCGACGC chr19:12971012-Variant-G;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Variant G tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ATATAGTGGTGG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAatatagtggtggAGATCGAGACCCGACGC chr19:12971012-Variant-G;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Variant G tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ACTGAACGGCCA CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAactgaacggccaAGATCGAGACCCGACGC chr19:12971012-Variant-G;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative A tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GTTGATGGACGG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAgttgatggacggAGATCGAGACCCGACGC chr19:12971012-Alternative-A;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Reference T tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GCGTCGATATCG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAgcgtcgatatcgAGATCGAGACCCGACGC chr19:12971012-Reference-T;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative A tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ACGCGGAGCTAA CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAacgcggagctaaAGATCGAGACCCGACGC chr19:12971012-Alternative-A;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative C tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ACATCAGGTCGG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAacatcaggtcggAGATCGAGACCCGACGC chr19:12971012-Alternative-C;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative A tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct CGTAACGTTCGG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAcgtaacgttcggAGATCGAGACCCGACGC chr19:12971012-Alternative-A;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Reference T tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GTCGCTCGTACT CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAgtcgctcgtactAGATCGAGACCCGACGC chr19:12971012-Reference-T;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Variant G tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GGTGGACCGTAA CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAggtggaccgtaaAGATCGAGACCCGACGC chr19:12971012-Variant-G;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Variant G tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct AGTATAAGGTCG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcGccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAagtataaggtcgAGATCGAGACCCGACGC chr19:12971012-Variant-G;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative A tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct CAAGATCCGCGT CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAcaagatccgcgtAGATCGAGACCCGACGC chr19:12971012-Alternative-A;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Reference T tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct CGTCGCCATTGT CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAcgtcgccattgtAGATCGAGACCCGACGC chr19:12971012-Reference-T;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative C tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ATCGGAGGATCG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAatcggaggatcgAGATCGAGACCCGACGC chr19:12971012-Alternative-C;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative C tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct CAATGAAGCTGA CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAcaatgaagctgaAGATCGAGACCCGACGC chr19:12971012-Alternative-C;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative C tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct AGATACAGGACG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAagatacaggacgAGATCGAGACCCGACGC chr19:12971012-Alternative-C;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Reference T tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GGTTGACACCGT CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAggttgacaccgtAGATCGAGACCCGACGC chr19:12971012-Reference-T;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative A tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct CAGCGTACGTTA CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcAccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAcagcgtacgttaAGATCGAGACCCGACGC chr19:12971012-Alternative-A;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Reference T tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct GCGAACTGAAGG CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcTccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAgcgaactgaaggAGATCGAGACCCGACGC chr19:12971012-Reference-T;Patient-55 chr19:12971012-TG Inherited Patient-55 intronic MAST1 NA 4.95e-05 -0.03 2.14 0.27 MAST1 21752 Alternative C tctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagct ACACACAACGGC CGACGCGGTCTCTCTCTtctgtctcccaggctggagtgcagtggcgcaatctcagctcactgcaagcCccacctcctaggttcacaccattctcctgcctcagcctcctgagtagctAGAGGGAGACGGACGTCTCAATAAacacacaacggcAGATCGAGACCCGACGC chr19:12971012-Alternative-C;Patient-55 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Variant T tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ACGCTTGGATGC CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAacgcttggatgcAGATCGAGACCCGACGC chr19:13015519-Variant-T;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Variant T tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CTCACCGCGATA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAActcaccgcgataAGATCGAGACCCGACGC chr19:13015519-Variant-T;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Variant T tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CAAGCTAGACAT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcaagctagacatAGATCGAGACCCGACGC chr19:13015519-Variant-T;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative A tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc GGAAGACCTACC CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAggaagacctaccAGATCGAGACCCGACGC chr19:13015519-Alternative-A;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Reference C tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CACGGTATTCAA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcacggtattcaaAGATCGAGACCCGACGC chr19:13015519-Reference-C;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Reference C tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc GGACGAATTCGA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAggacgaattcgaAGATCGAGACCCGACGC chr19:13015519-Reference-C;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative A tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ACGCAGCATCCA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAacgcagcatccaAGATCGAGACCCGACGC chr19:13015519-Alternative-A;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Reference C tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ATAGCGCCACAG CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAatagcgccacagAGATCGAGACCCGACGC chr19:13015519-Reference-C;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative A tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CACATTCAGCAA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcacattcagcaaAGATCGAGACCCGACGC chr19:13015519-Alternative-A;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative A tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc GGATGTAACCGG CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAggatgtaaccggAGATCGAGACCCGACGC chr19:13015519-Alternative-A;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Variant T tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CATGCTAGTAGT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcatgctagtagtAGATCGAGACCCGACGC chr19:13015519-Variant-T;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative A tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CTGGCGAGTGAT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctAagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAActggcgagtgatAGATCGAGACCCGACGC chr19:13015519-Alternative-A;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Reference C tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc AAGGCTGAAGAT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAaaggctgaagatAGATCGAGACCCGACGC chr19:13015519-Reference-C;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative G tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CATTCTAACGCT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcattctaacgctAGATCGAGACCCGACGC chr19:13015519-Alternative-G;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative G tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc AGTCGTTGGCGA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAagtcgttggcgaAGATCGAGACCCGACGC chr19:13015519-Alternative-G;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Variant T tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ATAGCAGTCGAG CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctTagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAatagcagtcgagAGATCGAGACCCGACGC chr19:13015519-Variant-T;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Reference C tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc CGGTGTCACGTT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctCagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAcggtgtcacgttAGATCGAGACCCGACGC chr19:13015519-Reference-C;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative G tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc GTTGTACCTGTT CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAgttgtacctgttAGATCGAGACCCGACGC chr19:13015519-Alternative-G;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative G tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ACCTACCTAGAA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAacctacctagaaAGATCGAGACCCGACGC chr19:13015519-Alternative-G;Patient-33 chr19:13015519-CT DeNovo Patient-33 intronic SYCE2 NA 4.95e-05 NA NA NA GCDH 13575 Alternative G tggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagc ATCGCTAGTGAA CGACGCGGTCTCTCTCTtggcaactggcactggaggtggcgacacaagggcaagaaacctgacttctGagagtacaggaagcggccaggtgtagtcgctcatgcctgtaatctcagcAGAGGGAGACGGACGTCTCAATAAatcgctagtgaaAGATCGAGACCCGACGC chr19:13015519-Alternative-G;Patient-33 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Variant G tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GTTGAGACATTC CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgttgagacattcAGATCGAGACCCGACGC chr19:13118000-Variant-G;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Variant G tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GTGTCGAGCGTT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgtgtcgagcgttAGATCGAGACCCGACGC chr19:13118000-Variant-G;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative T tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GAGTAGCGCCAA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgagtagcgccaaAGATCGAGACCCGACGC chr19:13118000-Alternative-T;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Variant G tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg AGATGCGACGGT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAagatgcgacggtAGATCGAGACCCGACGC chr19:13118000-Variant-G;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Variant G tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CTCGTGTATTGT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAActcgtgtattgtAGATCGAGACCCGACGC chr19:13118000-Variant-G;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative T tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GATGGCACTACC CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgatggcactaccAGATCGAGACCCGACGC chr19:13118000-Alternative-T;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Variant G tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GGATAGCGGCAT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccGcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAggatagcggcatAGATCGAGACCCGACGC chr19:13118000-Variant-G;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative T tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CTGCTTCTAAGT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAActgcttctaagtAGATCGAGACCCGACGC chr19:13118000-Alternative-T;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative T tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg AACGCACGAGCA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAaacgcacgagcaAGATCGAGACCCGACGC chr19:13118000-Alternative-T;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Reference C tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CATCTAACCGGC CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAcatctaaccggcAGATCGAGACCCGACGC chr19:13118000-Reference-C;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative T tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CGTTAGCGTACT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccTcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAcgttagcgtactAGATCGAGACCCGACGC chr19:13118000-Alternative-T;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Reference C tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GCGTCAACACAG CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgcgtcaacacagAGATCGAGACCCGACGC chr19:13118000-Reference-C;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative A tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CGCTCTGGTACA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAcgctctggtacaAGATCGAGACCCGACGC chr19:13118000-Alternative-A;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative A tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg AGCCAAGTAGAA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAagccaagtagaaAGATCGAGACCCGACGC chr19:13118000-Alternative-A;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Reference C tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GTTGAGGCGAGT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAgttgaggcgagtAGATCGAGACCCGACGC chr19:13118000-Reference-C;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative A tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg GGCACGGTTAGA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAggcacggttagaAGATCGAGACCCGACGC chr19:13118000-Alternative-A;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Reference C tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CTAGAACGTAGG CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAActagaacgtaggAGATCGAGACCCGACGC chr19:13118000-Reference-C;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative A tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CTCACGGAACAT CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAActcacggaacatAGATCGAGACCCGACGC chr19:13118000-Alternative-A;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Reference C tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg AGTACGCGATAA CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccCcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAagtacgcgataaAGATCGAGACCCGACGC chr19:13118000-Reference-C;Patient-86 chr19:13118000-CG DeNovo Patient-86 intronic NFIX 3.2e-05 4.95e-05 1.6 16.26 3.49 NFIX 11415 Alternative A tgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctg CATCTGACGTCC CGACGCGGTCTCTCTCTtgcttgcctgtaatggctcaccatttttggcatctcttccccctccccccAcataggcgccaacctcacttccaaacccgccgccatcgttggctctctgAGAGGGAGACGGACGTCTCAATAAcatctgacgtccAGATCGAGACCCGACGC chr19:13118000-Alternative-A;Patient-86 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative A gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GGTATGTATCGC CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAggtatgtatcgcAGATCGAGACCCGACGC chr19:13275110-Alternative-A;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Variant T gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ATCCTCGACAGT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAatcctcgacagtAGATCGAGACCCGACGC chr19:13275110-Variant-T;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Variant T gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagagga AGCTTACACCGG CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAagcttacaccggAGATCGAGACCCGACGC chr19:13275110-Variant-T;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Reference C gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagagga CAGGCTAATAAC CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAcaggctaataacAGATCGAGACCCGACGC chr19:13275110-Reference-C;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Reference C gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GGAGATGCATCA CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAggagatgcatcaAGATCGAGACCCGACGC chr19:13275110-Reference-C;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Reference C gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ACTAGCCTACTA CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAactagcctactaAGATCGAGACCCGACGC chr19:13275110-Reference-C;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative A gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ACCAAGCAAGCA CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAaccaagcaagcaAGATCGAGACCCGACGC chr19:13275110-Alternative-A;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative A gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ATCCGTCATTCT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAatccgtcattctAGATCGAGACCCGACGC chr19:13275110-Alternative-A;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Variant T gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ACGCGTATGCCT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAacgcgtatgcctAGATCGAGACCCGACGC chr19:13275110-Variant-T;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Reference C gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GCAGGTGGACAT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAgcaggtggacatAGATCGAGACCCGACGC chr19:13275110-Reference-C;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Variant T gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagagga AGTGGCATCAAT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAagtggcatcaatAGATCGAGACCCGACGC chr19:13275110-Variant-T;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative A gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagagga ATATACACGACC CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAatatacacgaccAGATCGAGACCCGACGC chr19:13275110-Alternative-A;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Variant T gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GGCAATAGACAT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacTcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAggcaatagacatAGATCGAGACCCGACGC chr19:13275110-Variant-T;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative G gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagagga CAAGCGAACGAG CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAcaagcgaacgagAGATCGAGACCCGACGC chr19:13275110-Alternative-G;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative A gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GCGCATCTGCAT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacAcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAgcgcatctgcatAGATCGAGACCCGACGC chr19:13275110-Alternative-A;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative G gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagagga CAAGCTACGGCA CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAcaagctacggcaAGATCGAGACCCGACGC chr19:13275110-Alternative-G;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative G gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GCATCTAATACG CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAgcatctaatacgAGATCGAGACCCGACGC chr19:13275110-Alternative-G;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative G gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GCCGTCTGTTGT CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAgccgtctgttgtAGATCGAGACCCGACGC chr19:13275110-Alternative-G;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Alternative G gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GCGTTAACGCCA CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacGcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAgcgttaacgccaAGATCGAGACCCGACGC chr19:13275110-Alternative-G;Patient-85 chr19:13275110-CT DeNovo Patient-85 intergenic NA 0.000513 0.39 8.32 1.81 STX10 13921 Reference C gagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagagga GGTCATCTACGG CGACGCGGTCTCTCTCTgagtgatctgaaatcagatggaggaggggtgggatgttaaactttcggacCcagggatgcttggggtggagcgggggcatggctggagggaggcagaggaAGAGGGAGACGGACGTCTCAATAAggtcatctacggAGATCGAGACCCGACGC chr19:13275110-Reference-C;Patient-85 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Reference G aattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggatt ACGATAACACAG CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAacgataacacagAGATCGAGACCCGACGC chr19:13517327-Reference-G;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative C aattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggatt AATAGTGGATGC CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAaatagtggatgcAGATCGAGACCCGACGC chr19:13517327-Alternative-C;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Reference G aattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CGACATAGGTCG CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAcgacataggtcgAGATCGAGACCCGACGC chr19:13517327-Reference-G;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative C aattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggatt ACGAACTCCGAC CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAacgaactccgacAGATCGAGACCCGACGC chr19:13517327-Alternative-C;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative C aattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CATAGCAACGAA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAcatagcaacgaaAGATCGAGACCCGACGC chr19:13517327-Alternative-C;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Reference G aattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GTCAACGAGTCT CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAgtcaacgagtctAGATCGAGACCCGACGC chr19:13517327-Reference-G;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative C aattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CGATTGTTCGAA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAcgattgttcgaaAGATCGAGACCCGACGC chr19:13517327-Alternative-C;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Variant A aattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GAAGATCGAGAA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAgaagatcgagaaAGATCGAGACCCGACGC chr19:13517327-Variant-A;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Reference G aattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggatt ATCATCCGACAT CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAatcatccgacatAGATCGAGACCCGACGC chr19:13517327-Reference-G;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative T aattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GGCTTGTCTATA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAggcttgtctataAGATCGAGACCCGACGC chr19:13517327-Alternative-T;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Variant A aattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggatt AGATGTGAACGT CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAagatgtgaacgtAGATCGAGACCCGACGC chr19:13517327-Variant-A;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Reference G aattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggatt AGCATCGTTATC CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatGaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAagcatcgttatcAGATCGAGACCCGACGC chr19:13517327-Reference-G;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative T aattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CTGAGAGTACGG CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAActgagagtacggAGATCGAGACCCGACGC chr19:13517327-Alternative-T;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative T aattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CAGATTGCTCTA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAcagattgctctaAGATCGAGACCCGACGC chr19:13517327-Alternative-T;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative C aattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggatt CAGACTCGATAC CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatCaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAcagactcgatacAGATCGAGACCCGACGC chr19:13517327-Alternative-C;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Variant A aattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggatt AGCGTTAATTGC CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAagcgttaattgcAGATCGAGACCCGACGC chr19:13517327-Variant-A;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative T aattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GCATACTGATGA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAgcatactgatgaAGATCGAGACCCGACGC chr19:13517327-Alternative-T;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Variant A aattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GTACTCGATTGA CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAgtactcgattgaAGATCGAGACCCGACGC chr19:13517327-Variant-A;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Alternative T aattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GACCTATACAGT CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatTaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAgacctatacagtAGATCGAGACCCGACGC chr19:13517327-Alternative-T;Patient-37 chr19:13517327-GA DeNovo Patient-37 intronic CACNA1A NA 4.95e-05 -0.09 1.54 0 CACNA1A 99946 Variant A aattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggatt GGTGTTCGCCTT CGACGCGGTCTCTCTCTaattatatatatatatatatatatatatatatatatatatatatatatatAaagggaatctgatccctaacattagtggaacagcttcaattcagggattAGAGGGAGACGGACGTCTCAATAAggtgttcgccttAGATCGAGACCCGACGC chr19:13517327-Variant-A;Patient-37 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative C tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CGACGCAACATC CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAcgacgcaacatcAGATCGAGACCCGACGC chr19:14126513-Alternative-C;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative C tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GATGGTGACTAA CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAgatggtgactaaAGATCGAGACCCGACGC chr19:14126513-Alternative-C;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Variant T tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg AACGTTGTGGTT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAaacgttgtggttAGATCGAGACCCGACGC chr19:14126513-Variant-T;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Variant T tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GACAAGTCGCGT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAgacaagtcgcgtAGATCGAGACCCGACGC chr19:14126513-Variant-T;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Variant T tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg ATCGAAGTGACT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAatcgaagtgactAGATCGAGACCCGACGC chr19:14126513-Variant-T;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Reference G tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CTAGTACCGGCA CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAActagtaccggcaAGATCGAGACCCGACGC chr19:14126513-Reference-G;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative A tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GTCGACATTCGG CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAgtcgacattcggAGATCGAGACCCGACGC chr19:14126513-Alternative-A;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Reference G tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg AGGCTAGTGGCA CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAaggctagtggcaAGATCGAGACCCGACGC chr19:14126513-Reference-G;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Reference G tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GGTAGTACCAGG CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAggtagtaccaggAGATCGAGACCCGACGC chr19:14126513-Reference-G;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Reference G tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GTTAGCAAGTCA CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAgttagcaagtcaAGATCGAGACCCGACGC chr19:14126513-Reference-G;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Reference G tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CACAACAAGAGT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttGgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAcacaacaagagtAGATCGAGACCCGACGC chr19:14126513-Reference-G;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative A tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CGTCTTGATACT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAcgtcttgatactAGATCGAGACCCGACGC chr19:14126513-Alternative-A;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative A tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg ATACAACGGTCT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAatacaacggtctAGATCGAGACCCGACGC chr19:14126513-Alternative-A;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Variant T tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GATCCGTGATAC CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAgatccgtgatacAGATCGAGACCCGACGC chr19:14126513-Variant-T;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative A tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CACAGATGCGTC CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAcacagatgcgtcAGATCGAGACCCGACGC chr19:14126513-Alternative-A;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative C tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GGCTCTGTGTTC CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAggctctgtgttcAGATCGAGACCCGACGC chr19:14126513-Alternative-C;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative C tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CGGATTATGCAT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAcggattatgcatAGATCGAGACCCGACGC chr19:14126513-Alternative-C;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Variant T tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg CTACCAGGATAT CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttTgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAActaccaggatatAGATCGAGACCCGACGC chr19:14126513-Variant-T;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative C tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg GGTGTCTCAACG CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttCgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAggtgtctcaacgAGATCGAGACCCGACGC chr19:14126513-Alternative-C;Patient-55 chr19:14126513-GT Inherited Patient-55 intergenic NA 0.000513 0.04 3.25 0 RFX1 9378 Alternative A tttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtg ACTACGTATGCA CGACGCGGTCTCTCTCTtttcacatgtcatgttggcaagaaaccaaagttcgataacactctctgttAgtaaggctgtaaggcagcagaacttttacccattgctagagagagtgtgAGAGGGAGACGGACGTCTCAATAAactacgtatgcaAGATCGAGACCCGACGC chr19:14126513-Alternative-A;Patient-55 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative C tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGATGGAAGGAT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgatggaaggatAGATCGAGACCCGACGC chr19:14230220-Alternative-C;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Reference G tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GACTGGACGAAG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgactggacgaagAGATCGAGACCCGACGC chr19:14230220-Reference-G;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative C tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGATAGTCACCG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgatagtcaccgAGATCGAGACCCGACGC chr19:14230220-Alternative-C;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative A tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GTTAAGGTTGAG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgttaaggttgagAGATCGAGACCCGACGC chr19:14230220-Alternative-A;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative C tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GGTAGAAGCGTC CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAggtagaagcgtcAGATCGAGACCCGACGC chr19:14230220-Alternative-C;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Variant T tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CAGGATCGTACT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcaggatcgtactAGATCGAGACCCGACGC chr19:14230220-Variant-T;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative C tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GGAACGGAAGCA CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAggaacggaagcaAGATCGAGACCCGACGC chr19:14230220-Alternative-C;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Reference G tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctgg AGATGCTGAGAT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAagatgctgagatAGATCGAGACCCGACGC chr19:14230220-Reference-G;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Variant T tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GTGACTCGCTGA CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgtgactcgctgaAGATCGAGACCCGACGC chr19:14230220-Variant-T;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Variant T tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CATAAGTTCACG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcataagttcacgAGATCGAGACCCGACGC chr19:14230220-Variant-T;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative A tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctgg ATCGCAGGACGA CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAatcgcaggacgaAGATCGAGACCCGACGC chr19:14230220-Alternative-A;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative C tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GTCGTTACTAAG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaCaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgtcgttactaagAGATCGAGACCCGACGC chr19:14230220-Alternative-C;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Variant T tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GGTATCCATAGT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAggtatccatagtAGATCGAGACCCGACGC chr19:14230220-Variant-T;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative A tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGACTGGTGTAC CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgactggtgtacAGATCGAGACCCGACGC chr19:14230220-Alternative-A;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Variant T tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGAACCGAACCT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaTaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgaaccgaacctAGATCGAGACCCGACGC chr19:14230220-Variant-T;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative A tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctgg AACGCAGAAGAT CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAaacgcagaagatAGATCGAGACCCGACGC chr19:14230220-Alternative-A;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Reference G tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGATAGGCTATA CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgataggctataAGATCGAGACCCGACGC chr19:14230220-Reference-G;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Reference G tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GTAAGGCGATCG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgtaaggcgatcgAGATCGAGACCCGACGC chr19:14230220-Reference-G;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Alternative A tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctgg GTTAGCGCACAC CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaAaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAgttagcgcacacAGATCGAGACCCGACGC chr19:14230220-Alternative-A;Patient-13 chr19:14230220-GT DeNovo Patient-13 intergenic NA 0.00016 0.08 3.9 1.09 PRKACA 1660 Reference G tctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctgg CGACTCGTATGG CGACGCGGTCTCTCTCTtctggaatacaactgtagaaccaattaagactggagtaggaagctggaaaGaagacgtgggacagccaacccactggacagggcaagaggccacttctggAGAGGGAGACGGACGTCTCAATAAcgactcgtatggAGATCGAGACCCGACGC chr19:14230220-Reference-G;Patient-13 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Reference C agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgccc CGACGGCTTGAT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAcgacggcttgatAGATCGAGACCCGACGC chr19:14615029-Reference-C;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Reference C agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgccc GTACACCTAGAT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgtacacctagatAGATCGAGACCCGACGC chr19:14615029-Reference-C;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative A agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgccc CAGCGTCGATTA CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAcagcgtcgattaAGATCGAGACCCGACGC chr19:14615029-Alternative-A;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative A agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgccc AGAGCTACGACG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAagagctacgacgAGATCGAGACCCGACGC chr19:14615029-Alternative-A;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Reference C agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgccc CATCGCATGTGG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAcatcgcatgtggAGATCGAGACCCGACGC chr19:14615029-Reference-C;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Reference C agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgccc GCGATCTCGTCA CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgcgatctcgtcaAGATCGAGACCCGACGC chr19:14615029-Reference-C;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative A agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgccc ATAGCAACATCG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAatagcaacatcgAGATCGAGACCCGACGC chr19:14615029-Alternative-A;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Reference C agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgccc CACGTTCAGACG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacCcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAcacgttcagacgAGATCGAGACCCGACGC chr19:14615029-Reference-C;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative A agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgccc GGTTCATACCTT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAggttcataccttAGATCGAGACCCGACGC chr19:14615029-Alternative-A;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Variant G agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgccc GTGTTGCTGGAC CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgtgttgctggacAGATCGAGACCCGACGC chr19:14615029-Variant-G;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative A agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgccc GTGGCGTTCGTT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacAcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgtggcgttcgttAGATCGAGACCCGACGC chr19:14615029-Alternative-A;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative T agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgccc GATGTCTACGAT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgatgtctacgatAGATCGAGACCCGACGC chr19:14615029-Alternative-T;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Variant G agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgccc GTCAGATCTAAG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgtcagatctaagAGATCGAGACCCGACGC chr19:14615029-Variant-G;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative T agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgccc GAGCCTTACGAC CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAgagccttacgacAGATCGAGACCCGACGC chr19:14615029-Alternative-T;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Variant G agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgccc GGTATTCGGTAT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAggtattcggtatAGATCGAGACCCGACGC chr19:14615029-Variant-G;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Variant G agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgccc GGAGACAACAGG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAggagacaacaggAGATCGAGACCCGACGC chr19:14615029-Variant-G;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative T agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgccc CGTGTGCGTGTT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAcgtgtgcgtgttAGATCGAGACCCGACGC chr19:14615029-Alternative-T;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Variant G agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgccc CTATGATCGTGC CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacGcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAActatgatcgtgcAGATCGAGACCCGACGC chr19:14615029-Variant-G;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative T agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgccc AAGGCTACGGAG CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAAaaggctacggagAGATCGAGACCCGACGC chr19:14615029-Alternative-T;Patient-36 chr19:14615029-CG DeNovo Patient-36 intergenic 0.000355 0.000513 -0.46 0.12 -0.24 GIPC1 8067 Alternative T agctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgccc CTAGTCAAGACT CGACGCGGTCTCTCTCTagctcaccgtagccttgacctcctaggctcgagtgggtgtcctaccacacTcagctaattttggtatttttcatagagatggggttttgccatgttgcccAGAGGGAGACGGACGTCTCAATAActagtcaagactAGATCGAGACCCGACGC chr19:14615029-Alternative-T;Patient-36 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Variant A aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GTTAACGGAGGT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgttaacggaggtAGATCGAGACCCGACGC chr19:14666894-Variant-A;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Variant A aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca CGTGATCGAACC CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAcgtgatcgaaccAGATCGAGACCCGACGC chr19:14666894-Variant-A;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Variant A aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GGCGCAATAACG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAggcgcaataacgAGATCGAGACCCGACGC chr19:14666894-Variant-A;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative C aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GTGTAAGGTACA CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgtgtaaggtacaAGATCGAGACCCGACGC chr19:14666894-Alternative-C;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Variant A aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GCAGCGGATGTT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgcagcggatgttAGATCGAGACCCGACGC chr19:14666894-Variant-A;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative C aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca ATACTACGGAAC CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAatactacggaacAGATCGAGACCCGACGC chr19:14666894-Alternative-C;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative C aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca ATACGTCCTACC CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAatacgtcctaccAGATCGAGACCCGACGC chr19:14666894-Alternative-C;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative T aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GTGTTAACAACG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgtgttaacaacgAGATCGAGACCCGACGC chr19:14666894-Alternative-T;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Variant A aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca CGTAGATTGGTT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccAtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAcgtagattggttAGATCGAGACCCGACGC chr19:14666894-Variant-A;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative C aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca AGACGCGTTGGT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAagacgcgttggtAGATCGAGACCCGACGC chr19:14666894-Alternative-C;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative T aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca AGCGTAGCGACT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAagcgtagcgactAGATCGAGACCCGACGC chr19:14666894-Alternative-T;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Reference G aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GACCTACAACAG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgacctacaacagAGATCGAGACCCGACGC chr19:14666894-Reference-G;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative T aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca CGACTTACGTGG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAcgacttacgtggAGATCGAGACCCGACGC chr19:14666894-Alternative-T;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative C aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca CATTCGTTGGCG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccCtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAcattcgttggcgAGATCGAGACCCGACGC chr19:14666894-Alternative-C;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Reference G aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GTGAACTGCGAA CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgtgaactgcgaaAGATCGAGACCCGACGC chr19:14666894-Reference-G;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative T aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca AGTCGAATCAAG CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAagtcgaatcaagAGATCGAGACCCGACGC chr19:14666894-Alternative-T;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Reference G aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca ACACATCGCACA CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAacacatcgcacaAGATCGAGACCCGACGC chr19:14666894-Reference-G;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Reference G aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GTCATGAGTACT CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgtcatgagtactAGATCGAGACCCGACGC chr19:14666894-Reference-G;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Alternative T aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca GATCGACACCAC CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccTtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAAgatcgacaccacAGATCGAGACCCGACGC chr19:14666894-Alternative-T;Patient-77 chr19:14666894-GA DeNovo Patient-77 intronic TECR 9.6e-05 4.95e-05 NA NA NA NDUFB7 15994 Reference G aaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctca CTGCGGTCATTC CGACGCGGTCTCTCTCTaaccctctatggctgccacttcactcagagtaaaagctaacgtcctccccGtggcccacaaagccgtggcacagaccgccacatcacctttctgccctcaAGAGGGAGACGGACGTCTCAATAActgcggtcattcAGATCGAGACCCGACGC chr19:14666894-Reference-G;Patient-77 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Variant G gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggaga AGAGTGTCGTAA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAagagtgtcgtaaAGATCGAGACCCGACGC chr19:15673118-Variant-G;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative T gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggaga CGTGTTGGATCG CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAcgtgttggatcgAGATCGAGACCCGACGC chr19:15673118-Alternative-T;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Variant G gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggaga CATAGATGCGGC CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAcatagatgcggcAGATCGAGACCCGACGC chr19:15673118-Variant-G;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative T gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GGTTGGTCATCG CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAggttggtcatcgAGATCGAGACCCGACGC chr19:15673118-Alternative-T;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative T gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggaga ATCTCTTGATGC CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAatctcttgatgcAGATCGAGACCCGACGC chr19:15673118-Alternative-T;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Variant G gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggaga AATCGATGTCGA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAaatcgatgtcgaAGATCGAGACCCGACGC chr19:15673118-Variant-G;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Variant G gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggaga ATTCTTGGCGCG CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAattcttggcgcgAGATCGAGACCCGACGC chr19:15673118-Variant-G;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative A gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggaga CAATAGCGGCTT CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAcaatagcggcttAGATCGAGACCCGACGC chr19:15673118-Alternative-A;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Variant G gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GGTTAATTCGCA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccGtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAggttaattcgcaAGATCGAGACCCGACGC chr19:15673118-Variant-G;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative T gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GGAACAAGGAGA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAggaacaaggagaAGATCGAGACCCGACGC chr19:15673118-Alternative-T;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative A gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggaga ATAGACCGTATC CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAatagaccgtatcAGATCGAGACCCGACGC chr19:15673118-Alternative-A;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative A gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggaga ACCGATCAGCTA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAaccgatcagctaAGATCGAGACCCGACGC chr19:15673118-Alternative-A;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative T gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GAGCAACACGCA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccTtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAgagcaacacgcaAGATCGAGACCCGACGC chr19:15673118-Alternative-T;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative A gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggaga AGTTAGGCCGCA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAagttaggccgcaAGATCGAGACCCGACGC chr19:15673118-Alternative-A;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Alternative A gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GGACGCAACCTT CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccAtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAggacgcaaccttAGATCGAGACCCGACGC chr19:15673118-Alternative-A;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Reference C gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggaga ACGAGCATTCCA CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAacgagcattccaAGATCGAGACCCGACGC chr19:15673118-Reference-C;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Reference C gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggaga CGTTGATTGGAT CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAcgttgattggatAGATCGAGACCCGACGC chr19:15673118-Reference-C;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Reference C gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggaga GGTCGTTGTACG CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAggtcgttgtacgAGATCGAGACCCGACGC chr19:15673118-Reference-C;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Reference C gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggaga AATACGTCACGT CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAaatacgtcacgtAGATCGAGACCCGACGC chr19:15673118-Reference-C;Patient-72 chr19:15673118-CG DeNovo Patient-72 intergenic 0.000191 0.00103 -0.03 2.24 0.23 CYP4F3 78588 Reference C gagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggaga CGCACCGGTTAT CGACGCGGTCTCTCTCTgagaacacccaacaggggatttcaggacagtatctggacaagatgtgcccCtttaaggccaacatcccatttcccagataggaagactgagcccaggagaAGAGGGAGACGGACGTCTCAATAAcgcaccggttatAGATCGAGACCCGACGC chr19:15673118-Reference-C;Patient-72 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative T ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagc CACGCAATTGAC CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAcacgcaattgacAGATCGAGACCCGACGC chr19:15764442-Alternative-T;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Variant A ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagc AACGCTTGCGAC CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAaacgcttgcgacAGATCGAGACCCGACGC chr19:15764442-Variant-A;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative C ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GTCTAGGATTGT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgtctaggattgtAGATCGAGACCCGACGC chr19:15764442-Alternative-C;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Reference G ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagc CATTAAGTCGCA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAcattaagtcgcaAGATCGAGACCCGACGC chr19:15764442-Reference-G;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Variant A ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ATTGGTGATCCA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAattggtgatccaAGATCGAGACCCGACGC chr19:15764442-Variant-A;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative T ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ACGTTACGACGC CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAacgttacgacgcAGATCGAGACCCGACGC chr19:15764442-Alternative-T;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Reference G ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ACGCAGATGCAG CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAacgcagatgcagAGATCGAGACCCGACGC chr19:15764442-Reference-G;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Reference G ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ATCTGCATACGA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAatctgcatacgaAGATCGAGACCCGACGC chr19:15764442-Reference-G;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Variant A ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagc CGTTAGGATTGT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAcgttaggattgtAGATCGAGACCCGACGC chr19:15764442-Variant-A;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Reference G ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GACGTTACGTAT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgacgttacgtatAGATCGAGACCCGACGC chr19:15764442-Reference-G;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative T ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GGTGAACCAGAT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAggtgaaccagatAGATCGAGACCCGACGC chr19:15764442-Alternative-T;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Variant A ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ATAAGTGGCCGC CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAataagtggccgcAGATCGAGACCCGACGC chr19:15764442-Variant-A;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative T ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ATCTGGATACGG CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAatctggatacggAGATCGAGACCCGACGC chr19:15764442-Alternative-T;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Reference G ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagc CACGCATAGAGT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaGttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAcacgcatagagtAGATCGAGACCCGACGC chr19:15764442-Reference-G;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative C ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GTAGGATGGCTA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgtaggatggctaAGATCGAGACCCGACGC chr19:15764442-Alternative-C;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative T ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagc CATGCGAAGATT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaTttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAcatgcgaagattAGATCGAGACCCGACGC chr19:15764442-Alternative-T;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative C ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagc ACAGATGGTTGT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAacagatggttgtAGATCGAGACCCGACGC chr19:15764442-Alternative-C;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Variant A ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GTATCCTGGTAA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaAttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgtatcctggtaaAGATCGAGACCCGACGC chr19:15764442-Variant-A;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative C ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GCATGCTTACTA CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgcatgcttactaAGATCGAGACCCGACGC chr19:15764442-Alternative-C;Patient-15 chr19:15764442-GA DeNovo Patient-15 intronic CYP4F3 NA 9.69e-05 0.42 8.57 -1.28 CYP4F3 12734 Alternative C ggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagc GATCGCGAAGCT CGACGCGGTCTCTCTCTggggtttacagtaagggaagcaggactaggggggtatagaaagtgtctcaCttgaaagcctgaataatgatcagtagataattgggtacagttggggagcAGAGGGAGACGGACGTCTCAATAAgatcgcgaagctAGATCGAGACCCGACGC chr19:15764442-Alternative-C;Patient-15 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Variant T tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtg ACTAAGTGAGCG CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAactaagtgagcgAGATCGAGACCCGACGC chr19:15822424-Variant-T;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Variant T tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtg CGTAGCGCACTT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcgtagcgcacttAGATCGAGACCCGACGC chr19:15822424-Variant-T;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Variant T tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtg GGATAGCACGAT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAggatagcacgatAGATCGAGACCCGACGC chr19:15822424-Variant-T;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Variant T tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtg CGGCTAACAACG CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcggctaacaacgAGATCGAGACCCGACGC chr19:15822424-Variant-T;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative G tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtg GGTTGATCCACG CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAggttgatccacgAGATCGAGACCCGACGC chr19:15822424-Alternative-G;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Variant T tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtg AGCGGAATTCTT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggTtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAagcggaattcttAGATCGAGACCCGACGC chr19:15822424-Variant-T;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative G tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtg AACACGTGCGAG CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAaacacgtgcgagAGATCGAGACCCGACGC chr19:15822424-Alternative-G;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative G tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtg GATAGGAGCCAA CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgataggagccaaAGATCGAGACCCGACGC chr19:15822424-Alternative-G;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Reference A tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtg GATAGATGGCGA CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgatagatggcgaAGATCGAGACCCGACGC chr19:15822424-Reference-A;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative G tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtg CGACTTACGTAT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcgacttacgtatAGATCGAGACCCGACGC chr19:15822424-Alternative-G;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Reference A tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtg GTACCGTGTAAT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgtaccgtgtaatAGATCGAGACCCGACGC chr19:15822424-Reference-A;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative G tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtg GTAGGATGTGAT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggGtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgtaggatgtgatAGATCGAGACCCGACGC chr19:15822424-Alternative-G;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Reference A tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtg CGGTGAGTAATT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcggtgagtaattAGATCGAGACCCGACGC chr19:15822424-Reference-A;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Reference A tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtg AACGCTCACGCA CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAaacgctcacgcaAGATCGAGACCCGACGC chr19:15822424-Reference-A;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Reference A tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtg AGTCCGGTAATT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggAtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAagtccggtaattAGATCGAGACCCGACGC chr19:15822424-Reference-A;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative C tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtg GTTGTGTTAGGT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgttgtgttaggtAGATCGAGACCCGACGC chr19:15822424-Alternative-C;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative C tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtg GATGGTGGATAT CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgatggtggatatAGATCGAGACCCGACGC chr19:15822424-Alternative-C;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative C tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtg CGCATACGCAAG CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcgcatacgcaagAGATCGAGACCCGACGC chr19:15822424-Alternative-C;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative C tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtg GTGCGATAGATA CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAgtgcgatagataAGATCGAGACCCGACGC chr19:15822424-Alternative-C;Patient-35 chr19:15822424-AT DeNovo Patient-35 intergenic NA 0.000513 -0.03 2.17 0 CYP4F3 70716 Alternative C tgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtg CAGCAACTAGAA CGACGCGGTCTCTCTCTtgaaactagacccctaactctcaccctattcaaaaatcaaatcatgatggCtgtattagtcagggttctctagagggacagaactaataggatagatgtgAGAGGGAGACGGACGTCTCAATAAcagcaactagaaAGATCGAGACCCGACGC chr19:15822424-Alternative-C;Patient-35 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Reference G gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac CGGTATAGTGCG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAcggtatagtgcgAGATCGAGACCCGACGC chr19:15849101-Reference-G;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Reference G gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ACTGGCGTGTGA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAactggcgtgtgaAGATCGAGACCCGACGC chr19:15849101-Reference-G;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative T gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac GGTTCGGTATTA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAggttcggtattaAGATCGAGACCCGACGC chr19:15849101-Alternative-T;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Reference G gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac AACTTGGAACGA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAaacttggaacgaAGATCGAGACCCGACGC chr19:15849101-Reference-G;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Reference G gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac GTGCTATGCCTA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAgtgctatgcctaAGATCGAGACCCGACGC chr19:15849101-Reference-G;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative T gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ATATGACCATGG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAatatgaccatggAGATCGAGACCCGACGC chr19:15849101-Alternative-T;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative T gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac AGACTGATGAGA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAagactgatgagaAGATCGAGACCCGACGC chr19:15849101-Alternative-T;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative T gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac CAGCGCTATCAA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAcagcgctatcaaAGATCGAGACCCGACGC chr19:15849101-Alternative-T;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative T gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ATTGTTCAACGG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattTtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAattgttcaacggAGATCGAGACCCGACGC chr19:15849101-Alternative-T;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Reference G gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac AGTAAGTCAACG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattGtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAagtaagtcaacgAGATCGAGACCCGACGC chr19:15849101-Reference-G;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Variant A gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac AACTAGGTGTTC CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAaactaggtgttcAGATCGAGACCCGACGC chr19:15849101-Variant-A;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Variant A gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ACGCCGCAACAT CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAacgccgcaacatAGATCGAGACCCGACGC chr19:15849101-Variant-A;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative C gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac CGATAATTGTCG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAcgataattgtcgAGATCGAGACCCGACGC chr19:15849101-Alternative-C;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Variant A gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac GTTCGAGCGTGT CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAgttcgagcgtgtAGATCGAGACCCGACGC chr19:15849101-Variant-A;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Variant A gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac CACAATCCGTCG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAcacaatccgtcgAGATCGAGACCCGACGC chr19:15849101-Variant-A;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Variant A gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ACGAGGCGGTAT CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattAtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAacgaggcggtatAGATCGAGACCCGACGC chr19:15849101-Variant-A;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative C gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ACAAGCGACATA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAacaagcgacataAGATCGAGACCCGACGC chr19:15849101-Alternative-C;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative C gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ATTCGATGCGAT CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAattcgatgcgatAGATCGAGACCCGACGC chr19:15849101-Alternative-C;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative C gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac CTATTCTCGGCG CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAActattctcggcgAGATCGAGACCCGACGC chr19:15849101-Alternative-C;Patient-91 chr19:15849101-GA Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.14 1.09 -0.33 CYP4F3 97393 Alternative C gattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaac ACTTAGACGGAA CGACGCGGTCTCTCTCTgattgaaataatcatgatttttctttttaaatcgattcctgtgataaattCtatgataggttttctgatgttaaccaatcttgtcatttatggaataaacAGAGGGAGACGGACGTCTCAATAAacttagacggaaAGATCGAGACCCGACGC chr19:15849101-Alternative-C;Patient-91 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Reference C ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacact CGATATACACAC CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAcgatatacacacAGATCGAGACCCGACGC chr19:16104388-Reference-C;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Reference C ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacact CTTGGATACGGC CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAActtggatacggcAGATCGAGACCCGACGC chr19:16104388-Reference-C;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Reference C ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacact AGCGTGTTATCA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAagcgtgttatcaAGATCGAGACCCGACGC chr19:16104388-Reference-C;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative A ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacact GATTAGGCCTAA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAgattaggcctaaAGATCGAGACCCGACGC chr19:16104388-Alternative-A;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative A ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacact ACCGAAGAGTAT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAaccgaagagtatAGATCGAGACCCGACGC chr19:16104388-Alternative-A;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Reference C ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacact CTCGTAGTCTAT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAActcgtagtctatAGATCGAGACCCGACGC chr19:16104388-Reference-C;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative A ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacact GGAACTTATCGT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAggaacttatcgtAGATCGAGACCCGACGC chr19:16104388-Alternative-A;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Reference C ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacact CATGTTCGGTAA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaCttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAcatgttcggtaaAGATCGAGACCCGACGC chr19:16104388-Reference-C;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative A ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacact CGTTGACAGATT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAcgttgacagattAGATCGAGACCCGACGC chr19:16104388-Alternative-A;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative A ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacact GCATCGAACACG CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaAttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAgcatcgaacacgAGATCGAGACCCGACGC chr19:16104388-Alternative-A;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative G ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacact GGTTCGATGCCT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAggttcgatgcctAGATCGAGACCCGACGC chr19:16104388-Alternative-G;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Variant T ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacact ATACGTGTGGTT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAatacgtgtggttAGATCGAGACCCGACGC chr19:16104388-Variant-T;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative G ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacact GTCGTGGACGAA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAgtcgtggacgaaAGATCGAGACCCGACGC chr19:16104388-Alternative-G;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Variant T ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacact GTCAAGCGGTCA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAgtcaagcggtcaAGATCGAGACCCGACGC chr19:16104388-Variant-T;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Variant T ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacact AGTCGCTCTAGG CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAagtcgctctaggAGATCGAGACCCGACGC chr19:16104388-Variant-T;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative G ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacact CGATGTAAGCTT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAcgatgtaagcttAGATCGAGACCCGACGC chr19:16104388-Alternative-G;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Variant T ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacact GTCGTGTGGTCA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAgtcgtgtggtcaAGATCGAGACCCGACGC chr19:16104388-Variant-T;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Variant T ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacact CATCAGGACGCT CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaTttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAcatcaggacgctAGATCGAGACCCGACGC chr19:16104388-Variant-T;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative G ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacact AACGTCTAGCGG CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAaacgtctagcggAGATCGAGACCCGACGC chr19:16104388-Alternative-G;Patient-55 chr19:16104388-CT Inherited Patient-55 intergenic 3.2e-05 0.00016 0.04 3.31 0.37 CYP4F2 95503 Alternative G ggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacact ACGTCACCGATA CGACGCGGTCTCTCTCTggttagaaatcctgctccactattccaacctcgattattagctaggtaaaGttgggcaagctccctaatctcttagacccactgtttcatcatctacactAGAGGGAGACGGACGTCTCAATAAacgtcaccgataAGATCGAGACCCGACGC chr19:16104388-Alternative-G;Patient-55 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative T tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ACTCGTGTACTT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAactcgtgtacttAGATCGAGACCCGACGC chr19:16562630-Alternative-T;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative T tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ATCCTGGAATGT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAatcctggaatgtAGATCGAGACCCGACGC chr19:16562630-Alternative-T;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative T tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt CACTTATACGTC CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAcacttatacgtcAGATCGAGACCCGACGC chr19:16562630-Alternative-T;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative T tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt AAGTAAGCCGGT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAaagtaagccggtAGATCGAGACCCGACGC chr19:16562630-Alternative-T;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Reference G tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt GGTTCAACGTCG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAggttcaacgtcgAGATCGAGACCCGACGC chr19:16562630-Reference-G;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Variant A tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt CTGCGTTGATAA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAActgcgttgataaAGATCGAGACCCGACGC chr19:16562630-Variant-A;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Variant A tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ACCGTACGACGT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAaccgtacgacgtAGATCGAGACCCGACGC chr19:16562630-Variant-A;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Variant A tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ATCCTGCATCTA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAatcctgcatctaAGATCGAGACCCGACGC chr19:16562630-Variant-A;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative T tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt GATCCTCGTTCG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccTcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAgatcctcgttcgAGATCGAGACCCGACGC chr19:16562630-Alternative-T;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Variant A tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt GACGAGAGTATT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAgacgagagtattAGATCGAGACCCGACGC chr19:16562630-Variant-A;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative C tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt AGCCGTCTTGGT CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAagccgtcttggtAGATCGAGACCCGACGC chr19:16562630-Alternative-C;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative C tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt CATCGAGGACGA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAcatcgaggacgaAGATCGAGACCCGACGC chr19:16562630-Alternative-C;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative C tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ACAGGTGTCGAG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAacaggtgtcgagAGATCGAGACCCGACGC chr19:16562630-Alternative-C;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Variant A tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ACTTAGGTAGCG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccAcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAacttaggtagcgAGATCGAGACCCGACGC chr19:16562630-Variant-A;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative C tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt CGACGTATGTCA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAcgacgtatgtcaAGATCGAGACCCGACGC chr19:16562630-Alternative-C;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Reference G tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt AAGCGGCGCTTA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAaagcggcgcttaAGATCGAGACCCGACGC chr19:16562630-Reference-G;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Alternative C tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt CGTATGCGTCCA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccCcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAcgtatgcgtccaAGATCGAGACCCGACGC chr19:16562630-Alternative-C;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Reference G tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt GAGGTAGGACGA CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAgaggtaggacgaAGATCGAGACCCGACGC chr19:16562630-Reference-G;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Reference G tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt GACAAGCGCAAG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAgacaagcgcaagAGATCGAGACCCGACGC chr19:16562630-Reference-G;Patient-25 chr19:16562630-GA Inherited Patient-25 intronic EPS15L1 0.000858 0.000297 -0.52 0.08 0 EPS15L1 20192 Reference G tccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggt ACTGTGCGACAG CGACGCGGTCTCTCTCTtccacccgcctcggcctgccagagtgctgggattacaggcgtgagccaccGcgcctggcctacaatttctaagattaaaaaaaaacaggccaggcacggtAGAGGGAGACGGACGTCTCAATAAactgtgcgacagAGATCGAGACCCGACGC chr19:16562630-Reference-G;Patient-25 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Reference C tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GCGTACTCCACA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgcgtactccacaAGATCGAGACCCGACGC chr19:16714453-Reference-C;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Reference C tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CGGTCAGCTAGA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcggtcagctagaAGATCGAGACCCGACGC chr19:16714453-Reference-C;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative T tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GATAATCTGTGC CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgataatctgtgcAGATCGAGACCCGACGC chr19:16714453-Alternative-T;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative T tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca ATTCGCGTGATA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAattcgcgtgataAGATCGAGACCCGACGC chr19:16714453-Alternative-T;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative G tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GCGCTGACACTT CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgcgctgacacttAGATCGAGACCCGACGC chr19:16714453-Alternative-G;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative T tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CAGGACGGAGAA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcaggacggagaaAGATCGAGACCCGACGC chr19:16714453-Alternative-T;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Variant A tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GACAACACGGAC CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgacaacacggacAGATCGAGACCCGACGC chr19:16714453-Variant-A;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Reference C tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca ACTGCGAGTAAT CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAactgcgagtaatAGATCGAGACCCGACGC chr19:16714453-Reference-C;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative T tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca AGAGTCATGTGA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAagagtcatgtgaAGATCGAGACCCGACGC chr19:16714453-Alternative-T;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative G tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CGTTAACGGATT CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcgttaacggattAGATCGAGACCCGACGC chr19:16714453-Alternative-G;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative G tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca ATCGATACGGCG CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAatcgatacggcgAGATCGAGACCCGACGC chr19:16714453-Alternative-G;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative G tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CGACTAGTGCAC CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcgactagtgcacAGATCGAGACCCGACGC chr19:16714453-Alternative-G;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Variant A tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GTTACCGACGGT CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgttaccgacggtAGATCGAGACCCGACGC chr19:16714453-Variant-A;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Variant A tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GTTGTGGACCAC CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgttgtggaccacAGATCGAGACCCGACGC chr19:16714453-Variant-A;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative T tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca GAGCAAGTACAC CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaTtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAgagcaagtacacAGATCGAGACCCGACGC chr19:16714453-Alternative-T;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Alternative G tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca ACGACTATCGCG CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaGtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAacgactatcgcgAGATCGAGACCCGACGC chr19:16714453-Alternative-G;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Reference C tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca AACGTCGGATGG CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAaacgtcggatggAGATCGAGACCCGACGC chr19:16714453-Reference-C;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Variant A tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CGTTGGCCTCTT CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcgttggcctcttAGATCGAGACCCGACGC chr19:16714453-Variant-A;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Reference C tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca CGCGACGGAATA CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaCtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAcgcgacggaataAGATCGAGACCCGACGC chr19:16714453-Reference-C;Patient-69 chr19:16714453-CA DeNovo Patient-69 intronic MED26 NA 9.9e-05 -0.27 0.45 -2 MED26 24561 Variant A tcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctccccca AAGCAGCACACG CGACGCGGTCTCTCTCTtcagcccctgagccgcagtctccccatcggtcaatagcagggccccaacaAtgcctatctcggtatgtgggggccagatgtaaacaggtactctcccccaAGAGGGAGACGGACGTCTCAATAAaagcagcacacgAGATCGAGACCCGACGC chr19:16714453-Variant-A;Patient-69 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Reference G ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GAGTATGACGCG CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgagtatgacgcgAGATCGAGACCCGACGC chr19:1674951-Reference-G;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative C ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc ACGTCCTGGTTC CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAacgtcctggttcAGATCGAGACCCGACGC chr19:1674951-Alternative-C;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Reference G ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CAATAATGCGCA CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcaataatgcgcaAGATCGAGACCCGACGC chr19:1674951-Reference-G;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Variant T ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc ACGACGGCAGAT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAacgacggcagatAGATCGAGACCCGACGC chr19:1674951-Variant-T;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Variant T ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CGCTCCATAGTT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcgctccatagttAGATCGAGACCCGACGC chr19:1674951-Variant-T;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Variant T ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CTAGTTCGTCAC CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAActagttcgtcacAGATCGAGACCCGACGC chr19:1674951-Variant-T;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative A ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CTATCCTGCGAG CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAActatcctgcgagAGATCGAGACCCGACGC chr19:1674951-Alternative-A;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Variant T ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GAATCGCGGTTA CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgaatcgcggttaAGATCGAGACCCGACGC chr19:1674951-Variant-T;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative C ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc ACGTATCACACT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAacgtatcacactAGATCGAGACCCGACGC chr19:1674951-Alternative-C;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative A ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CATTCGAGGCCT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcattcgaggcctAGATCGAGACCCGACGC chr19:1674951-Alternative-A;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative A ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GAGTAGTATGGT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgagtagtatggtAGATCGAGACCCGACGC chr19:1674951-Alternative-A;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative A ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc ACACTTCCTATC CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAacacttcctatcAGATCGAGACCCGACGC chr19:1674951-Alternative-A;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Variant T ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc AGTGACTTAGTC CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacTcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAagtgacttagtcAGATCGAGACCCGACGC chr19:1674951-Variant-T;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative C ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GCGGTTCGGATT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgcggttcggattAGATCGAGACCCGACGC chr19:1674951-Alternative-C;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative A ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GACCGATGCACA CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacActtgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgaccgatgcacaAGATCGAGACCCGACGC chr19:1674951-Alternative-A;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative C ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc CAGCGCAATACT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcagcgcaatactAGATCGAGACCCGACGC chr19:1674951-Alternative-C;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Alternative C ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc AACGCGTGTGCA CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacCcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAaacgcgtgtgcaAGATCGAGACCCGACGC chr19:1674951-Alternative-C;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Reference G ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc ATACAACTGTGG CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAatacaactgtggAGATCGAGACCCGACGC chr19:1674951-Reference-G;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Reference G ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc AACGGTATGCTT CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAaacggtatgcttAGATCGAGACCCGACGC chr19:1674951-Reference-G;Patient-86 chr19:1674951-GT DeNovo Patient-86 intergenic NA 0.000512821 -0.51 0.08 0 TCF3 22622 Reference G ggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtc GCAAGTGTATCG CGACGCGGTCTCTCTCTggaccaaccagaaaagaagtcactattactggccgggcgcggtggctcacGcttgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgcaagtgtatcgAGATCGAGACCCGACGC chr19:1674951-Reference-G;Patient-86 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Reference G ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AACTTCGTACCT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAaacttcgtacctAGATCGAGACCCGACGC chr19:16821689-Reference-G;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Reference G ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AGAACGAGTCAT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAagaacgagtcatAGATCGAGACCCGACGC chr19:16821689-Reference-G;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative T ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc GCGAGTACTATC CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAgcgagtactatcAGATCGAGACCCGACGC chr19:16821689-Alternative-T;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Reference G ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc CAGCAACATGAA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAcagcaacatgaaAGATCGAGACCCGACGC chr19:16821689-Reference-G;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Reference G ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc ACAAGCCGGAGA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAacaagccggagaAGATCGAGACCCGACGC chr19:16821689-Reference-G;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative T ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AGCGTAGCGGAT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAagcgtagcggatAGATCGAGACCCGACGC chr19:16821689-Alternative-T;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Reference G ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc ATCTGCCACTAT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaGcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAatctgccactatAGATCGAGACCCGACGC chr19:16821689-Reference-G;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative T ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc GACATGCTCGGT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAgacatgctcggtAGATCGAGACCCGACGC chr19:16821689-Alternative-T;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Variant A ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc ATCATAGGCTGT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAatcataggctgtAGATCGAGACCCGACGC chr19:16821689-Variant-A;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative T ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc GATCGAGTGTAA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAgatcgagtgtaaAGATCGAGACCCGACGC chr19:16821689-Alternative-T;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative T ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc CAATGGACGCGA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaTcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAcaatggacgcgaAGATCGAGACCCGACGC chr19:16821689-Alternative-T;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative C ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc GCGACGATAATA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAgcgacgataataAGATCGAGACCCGACGC chr19:16821689-Alternative-C;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Variant A ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AGAGTGTCGAAG CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAagagtgtcgaagAGATCGAGACCCGACGC chr19:16821689-Variant-A;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Variant A ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AAGTGACGGTTA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAaagtgacggttaAGATCGAGACCCGACGC chr19:16821689-Variant-A;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Variant A ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc GACGATTGTCTA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAgacgattgtctaAGATCGAGACCCGACGC chr19:16821689-Variant-A;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Variant A ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc CAGCAGCATGAG CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaAcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAcagcagcatgagAGATCGAGACCCGACGC chr19:16821689-Variant-A;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative C ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc ACCACATGTCAA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAaccacatgtcaaAGATCGAGACCCGACGC chr19:16821689-Alternative-C;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative C ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AGATTCGGCTAT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAagattcggctatAGATCGAGACCCGACGC chr19:16821689-Alternative-C;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative C ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc CGTATGCTAGAT CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAcgtatgctagatAGATCGAGACCCGACGC chr19:16821689-Alternative-C;Patient-54 chr19:16821689-GA Inherited Patient-54 intergenic NA 0.000513 0.57 10.06 0 MED26 82673 Alternative C ttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatc AACGACTCGCGA CGACGCGGTCTCTCTCTttttatcatgacatgacacctaacttccccagagcaagcaatccaagaaaCcaaagaagacctagtaccatttctgatctggtctgagtcaaacaccatcAGAGGGAGACGGACGTCTCAATAAaacgactcgcgaAGATCGAGACCCGACGC chr19:16821689-Alternative-C;Patient-54 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative G ccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GCGTATGTTAGA CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAgcgtatgttagaAGATCGAGACCCGACGC chr19:16946072-Alternative-G;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Variant T ccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc CTGTTCATGGTT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAActgttcatggttAGATCGAGACCCGACGC chr19:16946072-Variant-T;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative G ccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc CAGGTCATAAGT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAcaggtcataagtAGATCGAGACCCGACGC chr19:16946072-Alternative-G;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative G ccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc ATATACGGCTGT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAatatacggctgtAGATCGAGACCCGACGC chr19:16946072-Alternative-G;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative G ccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GTTCGTTCGTGC CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAgttcgttcgtgcAGATCGAGACCCGACGC chr19:16946072-Alternative-G;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative A ccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc CGCGTACGTACT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAcgcgtacgtactAGATCGAGACCCGACGC chr19:16946072-Alternative-A;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative G ccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc AGACCTAGCACG CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgGtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAagacctagcacgAGATCGAGACCCGACGC chr19:16946072-Alternative-G;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative A ccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc AGTAAGGTGGAA CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAagtaaggtggaaAGATCGAGACCCGACGC chr19:16946072-Alternative-A;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Variant T ccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc CAAGCCAGGCTT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAcaagccaggcttAGATCGAGACCCGACGC chr19:16946072-Variant-T;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Variant T ccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GCGGCTCTCTTA CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAgcggctctcttaAGATCGAGACCCGACGC chr19:16946072-Variant-T;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Reference C ccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc AAGACGGCTAAT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAaagacggctaatAGATCGAGACCCGACGC chr19:16946072-Reference-C;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Variant T ccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc ATCAAGGCAGTT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAatcaaggcagttAGATCGAGACCCGACGC chr19:16946072-Variant-T;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Variant T ccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc ACGAGTTGGTGG CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgTtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAacgagttggtggAGATCGAGACCCGACGC chr19:16946072-Variant-T;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Reference C ccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc ATCTCGCGGAGT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAatctcgcggagtAGATCGAGACCCGACGC chr19:16946072-Reference-C;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative A ccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GCATTCTCGATT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAgcattctcgattAGATCGAGACCCGACGC chr19:16946072-Alternative-A;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Reference C ccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc AAGAACGCTGAG CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAaagaacgctgagAGATCGAGACCCGACGC chr19:16946072-Reference-C;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative A ccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc AACTCGTGGAAC CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAaactcgtggaacAGATCGAGACCCGACGC chr19:16946072-Alternative-A;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Alternative A ccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc CACTTAAGAGGT CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgAtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAcacttaagaggtAGATCGAGACCCGACGC chr19:16946072-Alternative-A;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Reference C ccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GCGGAGTTGACA CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAgcggagttgacaAGATCGAGACCCGACGC chr19:16946072-Reference-C;Patient-69 chr19:16946072-CT DeNovo Patient-69 intronic SIN3B NA 9.9e-05 -0.15 1.01 0.16 SIN3B 5853 Reference C ccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatc GGTTATGCATCA CGACGCGGTCTCTCTCTccactgcacctggccatcttttttttttttttttttgagacagagtctcgCtgtgttgcccaggctggagtgcaatggcacgatcttggctcgctgcatcAGAGGGAGACGGACGTCTCAATAAggttatgcatcaAGATCGAGACCCGACGC chr19:16946072-Reference-C;Patient-69 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Reference T ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg ACTAGGCTAAGA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAactaggctaagaAGATCGAGACCCGACGC chr19:16994672-Reference-T;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative G ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg AACTTGCGAGAT CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAaacttgcgagatAGATCGAGACCCGACGC chr19:16994672-Alternative-G;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Reference T ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CTGCGAATACTA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAActgcgaatactaAGATCGAGACCCGACGC chr19:16994672-Reference-T;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative A ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CATCGGCTACGA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAcatcggctacgaAGATCGAGACCCGACGC chr19:16994672-Alternative-A;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative G ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg AGCTAACGTCAC CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAagctaacgtcacAGATCGAGACCCGACGC chr19:16994672-Alternative-G;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative A ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GTTCATAGTGCA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAgttcatagtgcaAGATCGAGACCCGACGC chr19:16994672-Alternative-A;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative G ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CACGCACTACTA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAcacgcactactaAGATCGAGACCCGACGC chr19:16994672-Alternative-G;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative A ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GGAACCTACAAC CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAggaacctacaacAGATCGAGACCCGACGC chr19:16994672-Alternative-A;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Reference T ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg ATAGTGAGCTGT CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAatagtgagctgtAGATCGAGACCCGACGC chr19:16994672-Reference-T;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative A ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GTGTAATCACCA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAgtgtaatcaccaAGATCGAGACCCGACGC chr19:16994672-Alternative-A;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Variant C ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg ACTAGGCTTCGG CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAactaggcttcggAGATCGAGACCCGACGC chr19:16994672-Variant-C;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Variant C ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg AAGTGCTATTCG CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAaagtgctattcgAGATCGAGACCCGACGC chr19:16994672-Variant-C;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative G ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CAGCATTCTAAG CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAcagcattctaagAGATCGAGACCCGACGC chr19:16994672-Alternative-G;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Variant C ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GTCGGCGATATC CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAgtcggcgatatcAGATCGAGACCCGACGC chr19:16994672-Variant-C;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Reference T ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg AACGATGGACTA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAaacgatggactaAGATCGAGACCCGACGC chr19:16994672-Reference-T;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative A ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GGAATGGTGTCG CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatAtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAggaatggtgtcgAGATCGAGACCCGACGC chr19:16994672-Alternative-A;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Reference T ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg ACAGAGCTGTAA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatTtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAacagagctgtaaAGATCGAGACCCGACGC chr19:16994672-Reference-T;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Variant C ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CGACATAGGTAA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAcgacataggtaaAGATCGAGACCCGACGC chr19:16994672-Variant-C;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Alternative G ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg CGCTCAACCACA CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatGtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAcgctcaaccacaAGATCGAGACCCGACGC chr19:16994672-Alternative-G;Patient-40 chr19:16994672-TC DeNovo Patient-40 intergenic 3.2e-05 0.000513 -0.04 2.11 -1.21 SIN3B 54453 Variant C ctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctgg GCGATGTCGTCT CGACGCGGTCTCTCTCTctgggagtggagcctcagcccttggtacagtggagcaaacaaactctgatCtggggccccagagaggaagcgctgggaatccaggggttggacaggctggAGAGGGAGACGGACGTCTCAATAAgcgatgtcgtctAGATCGAGACCCGACGC chr19:16994672-Variant-C;Patient-40 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Reference T gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaatta GTGTCGTGAACC CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAgtgtcgtgaaccAGATCGAGACCCGACGC chr19:17625152-Reference-T;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Reference T gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaatta ATAGGCGTGATA CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAataggcgtgataAGATCGAGACCCGACGC chr19:17625152-Reference-T;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Reference T gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaatta CATCTCTTAGGT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcatctcttaggtAGATCGAGACCCGACGC chr19:17625152-Reference-T;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Variant C gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaatta CAACGAACTCGG CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcaacgaactcggAGATCGAGACCCGACGC chr19:17625152-Variant-C;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Variant C gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaatta ACGTACGTAAGG CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAacgtacgtaaggAGATCGAGACCCGACGC chr19:17625152-Variant-C;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Reference T gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaatta CACTTATGCGAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcacttatgcgatAGATCGAGACCCGACGC chr19:17625152-Reference-T;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Variant C gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaatta ATCCTCAACGCG CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAatcctcaacgcgAGATCGAGACCCGACGC chr19:17625152-Variant-C;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative G gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaatta GATGTAAGGCAA CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAgatgtaaggcaaAGATCGAGACCCGACGC chr19:17625152-Alternative-G;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Variant C gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaatta CGCTCCTTGCAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcgctccttgcatAGATCGAGACCCGACGC chr19:17625152-Variant-C;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Reference T gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaatta AGGTACTGACTT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaTtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAaggtactgacttAGATCGAGACCCGACGC chr19:17625152-Reference-T;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative G gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaatta AGCACCTATGAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAagcacctatgatAGATCGAGACCCGACGC chr19:17625152-Alternative-G;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Variant C gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaatta ACCTTGGTTCAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaCtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAaccttggttcatAGATCGAGACCCGACGC chr19:17625152-Variant-C;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative A gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaatta ACGCAGAATCTT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAacgcagaatcttAGATCGAGACCCGACGC chr19:17625152-Alternative-A;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative G gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaatta GTCGCATAGTAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAgtcgcatagtatAGATCGAGACCCGACGC chr19:17625152-Alternative-G;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative A gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaatta AACAGAGCGACC CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAaacagagcgaccAGATCGAGACCCGACGC chr19:17625152-Alternative-A;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative A gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaatta AACGTTATCCGC CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAaacgttatccgcAGATCGAGACCCGACGC chr19:17625152-Alternative-A;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative A gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaatta CAACACGTTCTT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcaacacgttcttAGATCGAGACCCGACGC chr19:17625152-Alternative-A;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative G gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaatta AGTTCCGCGGAT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAagttccgcggatAGATCGAGACCCGACGC chr19:17625152-Alternative-G;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative G gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaatta CACACAACTAGT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaGtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcacacaactagtAGATCGAGACCCGACGC chr19:17625152-Alternative-G;Patient-104 chr19:17625152-TC DeNovo Patient-104 intronic PGLS NA 3.91e-05 0.05 3.42 0.72 PGLS 2719 Alternative A gccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaatta CGGATGTGGTGT CGACGCGGTCTCTCTCTgccttcttggattctgtgtgtcttctcatcttatataaggacgccagtcaAtggatttagggcccacactaatccactatgacttgttcttaactaattaAGAGGGAGACGGACGTCTCAATAAcggatgtggtgtAGATCGAGACCCGACGC chr19:17625152-Alternative-A;Patient-104 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Variant T gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GCAGACGCATTC CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAgcagacgcattcAGATCGAGACCCGACGC chr19:17855482-Variant-T;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Reference C gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct ATTAACGCTCCT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAattaacgctcctAGATCGAGACCCGACGC chr19:17855482-Reference-C;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Reference C gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CGGCGATTAGGT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAcggcgattaggtAGATCGAGACCCGACGC chr19:17855482-Reference-C;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative A gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CTGAGCGAAGCA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAActgagcgaagcaAGATCGAGACCCGACGC chr19:17855482-Alternative-A;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Variant T gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct AGTTGGATTAGG CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAagttggattaggAGATCGAGACCCGACGC chr19:17855482-Variant-T;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Variant T gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct ACGCACTCAATA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAacgcactcaataAGATCGAGACCCGACGC chr19:17855482-Variant-T;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Variant T gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CATTGGCGTACA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAcattggcgtacaAGATCGAGACCCGACGC chr19:17855482-Variant-T;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Variant T gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GGACGGTTGTTC CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcTgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAggacggttgttcAGATCGAGACCCGACGC chr19:17855482-Variant-T;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Reference C gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct AATATGCGACGA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAaatatgcgacgaAGATCGAGACCCGACGC chr19:17855482-Reference-C;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative A gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CTTGACGATCAA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAActtgacgatcaaAGATCGAGACCCGACGC chr19:17855482-Alternative-A;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative A gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GTGTCTTCAACT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAgtgtcttcaactAGATCGAGACCCGACGC chr19:17855482-Alternative-A;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Reference C gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct ACTTAAGGACCT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAacttaaggacctAGATCGAGACCCGACGC chr19:17855482-Reference-C;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative A gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct AAGAACCTATGG CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAaagaacctatggAGATCGAGACCCGACGC chr19:17855482-Alternative-A;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative G gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CAGCTCTAGTAA CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAcagctctagtaaAGATCGAGACCCGACGC chr19:17855482-Alternative-G;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative G gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GCGCACGATAAG CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAgcgcacgataagAGATCGAGACCCGACGC chr19:17855482-Alternative-G;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative A gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GGTGAGCTGTTC CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcAgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAggtgagctgttcAGATCGAGACCCGACGC chr19:17855482-Alternative-A;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative G gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct ATACGAGCGCGT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAatacgagcgcgtAGATCGAGACCCGACGC chr19:17855482-Alternative-G;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Reference C gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GCGCCACTATGT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcCgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAgcgccactatgtAGATCGAGACCCGACGC chr19:17855482-Reference-C;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative G gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct GCCACGAATTAT CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAAgccacgaattatAGATCGAGACCCGACGC chr19:17855482-Alternative-G;Patient-110 chr19:17855482-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.05 1.98 0 FCHO1 3044 Alternative G gaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtct CTGTTAGAATCG CGACGCGGTCTCTCTCTgaggcaggagaattgcttgaacctgggaagcggaggttgttgcagtgagcGgagatcacgcaactgcactccagcctggcaacagagcgagactctgtctAGAGGGAGACGGACGTCTCAATAActgttagaatcgAGATCGAGACCCGACGC chr19:17855482-Alternative-G;Patient-110 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Reference G accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ATTACCTCGTAC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAattacctcgtacAGATCGAGACCCGACGC chr19:18167415-Reference-G;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Reference G accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ATAAGATCGGCA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAataagatcggcaAGATCGAGACCCGACGC chr19:18167415-Reference-G;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Reference G accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GAGTATACTTCG CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgagtatacttcgAGATCGAGACCCGACGC chr19:18167415-Reference-G;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Reference G accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GGTTGTTCCTAA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAggttgttcctaaAGATCGAGACCCGACGC chr19:18167415-Reference-G;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Reference G accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg CACGCTAGATTA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccGccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAcacgctagattaAGATCGAGACCCGACGC chr19:18167415-Reference-G;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative T accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ACGTGTGCGAGA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAacgtgtgcgagaAGATCGAGACCCGACGC chr19:18167415-Alternative-T;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative T accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GCGAGATGATGC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgcgagatgatgcAGATCGAGACCCGACGC chr19:18167415-Alternative-T;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative T accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GCGTCACGATGT CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgcgtcacgatgtAGATCGAGACCCGACGC chr19:18167415-Alternative-T;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative T accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ACGGTCGTAGTC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAacggtcgtagtcAGATCGAGACCCGACGC chr19:18167415-Alternative-T;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative T accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg CTCGTTGAGTGG CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccTccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAActcgttgagtggAGATCGAGACCCGACGC chr19:18167415-Alternative-T;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Variant A accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ATCATGTTCGCA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAatcatgttcgcaAGATCGAGACCCGACGC chr19:18167415-Variant-A;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Variant A accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GTCGATTGACGC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgtcgattgacgcAGATCGAGACCCGACGC chr19:18167415-Variant-A;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Variant A accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg AGCTTGCTAAGA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAagcttgctaagaAGATCGAGACCCGACGC chr19:18167415-Variant-A;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Variant A accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ACCAATTGCTGA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAaccaattgctgaAGATCGAGACCCGACGC chr19:18167415-Variant-A;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Variant A accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg CTAATAGCTCGA CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccAccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAActaatagctcgaAGATCGAGACCCGACGC chr19:18167415-Variant-A;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative C accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GGCCATGAAGTC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAggccatgaagtcAGATCGAGACCCGACGC chr19:18167415-Alternative-C;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative C accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GATTCCATTCGC CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgattccattcgcAGATCGAGACCCGACGC chr19:18167415-Alternative-C;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative C accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg ACGTCCAATAGT CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAacgtccaatagtAGATCGAGACCCGACGC chr19:18167415-Alternative-C;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative C accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg GATCGCGATAAT CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAgatcgcgataatAGATCGAGACCCGACGC chr19:18167415-Alternative-C;Patient-55 chr19:18167415-GA Inherited Patient-55 intergenic 3.2e-05 0.000512821 -0.02 2.31 0.15 MAST3 41187 Alternative C accatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccgg AGTTGTTCTTCG CGACGCGGTCTCTCTCTaccatgttggccaggctggcctcgaactcctgagctcaagcgatcggcccCccttggcctcccaaagtgctgggattacaggtgtgagccaccgcgccggAGAGGGAGACGGACGTCTCAATAAagttgttcttcgAGATCGAGACCCGACGC chr19:18167415-Alternative-C;Patient-55 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative C ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GACATTACGCTA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgacattacgctaAGATCGAGACCCGACGC chr19:18642327-Alternative-C;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative C ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GGTGGATGGTAA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAggtggatggtaaAGATCGAGACCCGACGC chr19:18642327-Alternative-C;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative C ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GACGTATGAGAT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgacgtatgagatAGATCGAGACCCGACGC chr19:18642327-Alternative-C;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative C ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GACGATAGATGG CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgacgatagatggAGATCGAGACCCGACGC chr19:18642327-Alternative-C;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative C ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg CGAGGTAGTTAT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgCgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAcgaggtagttatAGATCGAGACCCGACGC chr19:18642327-Alternative-C;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative A ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AGCTATTGTACG CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAagctattgtacgAGATCGAGACCCGACGC chr19:18642327-Alternative-A;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative A ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AGGCTTCTTGAT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAaggcttcttgatAGATCGAGACCCGACGC chr19:18642327-Alternative-A;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative A ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg CTATCTCGACTA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAActatctcgactaAGATCGAGACCCGACGC chr19:18642327-Alternative-A;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative A ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg CGCTATTCGTCG CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAcgctattcgtcgAGATCGAGACCCGACGC chr19:18642327-Alternative-A;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Alternative A ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GACGTCCACGTT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgAgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgacgtccacgttAGATCGAGACCCGACGC chr19:18642327-Alternative-A;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Variant T ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg CATGTTGGAACG CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAcatgttggaacgAGATCGAGACCCGACGC chr19:18642327-Variant-T;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Variant T ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AAGTCGGAACTT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAaagtcggaacttAGATCGAGACCCGACGC chr19:18642327-Variant-T;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Variant T ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg CATAGGCGTATA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAcataggcgtataAGATCGAGACCCGACGC chr19:18642327-Variant-T;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Variant T ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg ACTCCTTCGGCA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAactccttcggcaAGATCGAGACCCGACGC chr19:18642327-Variant-T;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Variant T ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AGCCGCAAGTTA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgTgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAagccgcaagttaAGATCGAGACCCGACGC chr19:18642327-Variant-T;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Reference G ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AGTGTACTGCGC CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAagtgtactgcgcAGATCGAGACCCGACGC chr19:18642327-Reference-G;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Reference G ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg AGACGCAGTATA CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAagacgcagtataAGATCGAGACCCGACGC chr19:18642327-Reference-G;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Reference G ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GATGCACTCGGT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgatgcactcggtAGATCGAGACCCGACGC chr19:18642327-Reference-G;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Reference G ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GTTAATTCCGGT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAgttaattccggtAGATCGAGACCCGACGC chr19:18642327-Reference-G;Patient-30 chr19:18642327-GT Inherited Patient-30 intergenic NA 0.00016 NA NA NA ELL 9389 Reference G ctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttg GGTCACGCTTCT CGACGCGGTCTCTCTCTctggatttcaggtgagtaaacagtgaacgctggggtaacgagtggagctgGgcagtaacacccccagagtccagctgagtcagacctctcaacccacttgAGAGGGAGACGGACGTCTCAATAAggtcacgcttctAGATCGAGACCCGACGC chr19:18642327-Reference-G;Patient-30 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Variant A caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CTCAACGCCTAT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAActcaacgcctatAGATCGAGACCCGACGC chr19:18909562-Variant-A;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Variant A caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CGATTCTCGCGT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAcgattctcgcgtAGATCGAGACCCGACGC chr19:18909562-Variant-A;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Variant A caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GATATGGCTGTT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAgatatggctgttAGATCGAGACCCGACGC chr19:18909562-Variant-A;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Variant A caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AGATTCTCGAAC CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAagattctcgaacAGATCGAGACCCGACGC chr19:18909562-Variant-A;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Variant A caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AGGCGCACTAAC CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcAgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAaggcgcactaacAGATCGAGACCCGACGC chr19:18909562-Variant-A;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative C caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc ACCGATCGCATA CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAaccgatcgcataAGATCGAGACCCGACGC chr19:18909562-Alternative-C;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative C caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CGGACTAATTCT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAcggactaattctAGATCGAGACCCGACGC chr19:18909562-Alternative-C;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Reference G caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GGTACTGCGAAC CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAggtactgcgaacAGATCGAGACCCGACGC chr19:18909562-Reference-G;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative T caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AGACTACACGTT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAagactacacgttAGATCGAGACCCGACGC chr19:18909562-Alternative-T;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative C caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AGGACATACGAG CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAaggacatacgagAGATCGAGACCCGACGC chr19:18909562-Alternative-C;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative C caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GAATCGCGAATT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAgaatcgcgaattAGATCGAGACCCGACGC chr19:18909562-Alternative-C;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative T caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AGCTCTCGAACG CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAagctctcgaacgAGATCGAGACCCGACGC chr19:18909562-Alternative-T;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Reference G caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GCGAATAAGTAC CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAgcgaataagtacAGATCGAGACCCGACGC chr19:18909562-Reference-G;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative T caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GTAATGCGGCGA CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAgtaatgcggcgaAGATCGAGACCCGACGC chr19:18909562-Alternative-T;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative T caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CGGATTGCCATC CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAcggattgccatcAGATCGAGACCCGACGC chr19:18909562-Alternative-T;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative C caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GGCAGTTAACTT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcCgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAggcagttaacttAGATCGAGACCCGACGC chr19:18909562-Alternative-C;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Reference G caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc AACTAGCTGACT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAaactagctgactAGATCGAGACCCGACGC chr19:18909562-Reference-G;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Reference G caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CTGCTAGTCTAT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAActgctagtctatAGATCGAGACCCGACGC chr19:18909562-Reference-G;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Reference G caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc CATATAGCGGAT CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcGgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAcatatagcggatAGATCGAGACCCGACGC chr19:18909562-Reference-G;Patient-14 chr19:18909562-GA DeNovo Patient-14 intergenic NA 0.000513 1.11 13.94 2.02 COMP 7447 Alternative T caggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggcc GAGCTGTTCACG CGACGCGGTCTCTCTCTcaggaggcccttgttcaggggagtgatggatggcgtgggaggccgagggcTgggtgtgtttacccaccggcggctgcagacaggagcccaggccagggccAGAGGGAGACGGACGTCTCAATAAgagctgttcacgAGATCGAGACCCGACGC chr19:18909562-Alternative-T;Patient-14 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Variant G ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GATGAGAGTAGA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgatgagagtagaAGATCGAGACCCGACGC chr19:18923361-Variant-G;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative C ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CAGTTATACGGT CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAcagttatacggtAGATCGAGACCCGACGC chr19:18923361-Alternative-C;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Variant G ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg AGCCACTAACCA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAagccactaaccaAGATCGAGACCCGACGC chr19:18923361-Variant-G;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative A ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CGTCGGTATGCA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAcgtcggtatgcaAGATCGAGACCCGACGC chr19:18923361-Alternative-A;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Reference T ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GAAGATGATCGC CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgaagatgatcgcAGATCGAGACCCGACGC chr19:18923361-Reference-T;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Reference T ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CGTATGTTACCT CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAcgtatgttacctAGATCGAGACCCGACGC chr19:18923361-Reference-T;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative A ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GGATCGTACCGT CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAggatcgtaccgtAGATCGAGACCCGACGC chr19:18923361-Alternative-A;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Variant G ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg AGAACCGCAATA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAagaaccgcaataAGATCGAGACCCGACGC chr19:18923361-Variant-G;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative A ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GCGTAGATATGA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgcgtagatatgaAGATCGAGACCCGACGC chr19:18923361-Alternative-A;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Reference T ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GGCACCAATTGA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAggcaccaattgaAGATCGAGACCCGACGC chr19:18923361-Reference-T;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Reference T ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg AGCGCGCGAATA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAagcgcgcgaataAGATCGAGACCCGACGC chr19:18923361-Reference-T;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative A ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg AGACCTACATGG CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAagacctacatggAGATCGAGACCCGACGC chr19:18923361-Alternative-A;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Reference T ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CTTGCATTATGC CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatTtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAActtgcattatgcAGATCGAGACCCGACGC chr19:18923361-Reference-T;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Variant G ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GCGATATGGTTA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgcgatatggttaAGATCGAGACCCGACGC chr19:18923361-Variant-G;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative C ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg AGCCAAGATTGA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAagccaagattgaAGATCGAGACCCGACGC chr19:18923361-Alternative-C;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative A ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GCGATAGTAAGT CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatAtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgcgatagtaagtAGATCGAGACCCGACGC chr19:18923361-Alternative-A;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative C ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg GCAACTGGCAAG CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAgcaactggcaagAGATCGAGACCCGACGC chr19:18923361-Alternative-C;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Variant G ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CGATCCGGTCTA CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatGtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAAcgatccggtctaAGATCGAGACCCGACGC chr19:18923361-Variant-G;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative C ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CTCGCGTTATCG CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAActcgcgttatcgAGATCGAGACCCGACGC chr19:18923361-Alternative-C;Patient-39 chr19:18923361-TG DeNovo Patient-39 intergenic NA 0.000513 -0.11 1.31 -0.4 UPF1 19382 Alternative C ctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtg CTCGCTAACCAC CGACGCGGTCTCTCTCTctcgatgtgtatatagggtgggggtccacagggcccacagggaagtgtatCtggtttcccaccatcacaccttccaaaacagcctcggtagccggatgtgAGAGGGAGACGGACGTCTCAATAActcgctaaccacAGATCGAGACCCGACGC chr19:18923361-Alternative-C;Patient-39 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Reference C ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct ACGTGGTCGACT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAacgtggtcgactAGATCGAGACCCGACGC chr19:19098253-Reference-C;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative A ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GACCGGCTACTA CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgaccggctactaAGATCGAGACCCGACGC chr19:19098253-Alternative-A;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative A ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GGTATTACGCTA CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAggtattacgctaAGATCGAGACCCGACGC chr19:19098253-Alternative-A;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Reference C ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GCGAACTATGTT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgcgaactatgttAGATCGAGACCCGACGC chr19:19098253-Reference-C;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative A ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GTACTATTCGCT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtactattcgctAGATCGAGACCCGACGC chr19:19098253-Alternative-A;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Reference C ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GTCGGATGATAA CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtcggatgataaAGATCGAGACCCGACGC chr19:19098253-Reference-C;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative A ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CAGCTTGCGTAC CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAcagcttgcgtacAGATCGAGACCCGACGC chr19:19098253-Alternative-A;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Reference C ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GTTAGATACGCG CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgttagatacgcgAGATCGAGACCCGACGC chr19:19098253-Reference-C;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative A ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CGTGTAAGCGCT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctAtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgtgtaagcgctAGATCGAGACCCGACGC chr19:19098253-Alternative-A;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Reference C ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CTAACGTACGCG CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctCtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAActaacgtacgcgAGATCGAGACCCGACGC chr19:19098253-Reference-C;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative T ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GTGTTATGCATC CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtgttatgcatcAGATCGAGACCCGACGC chr19:19098253-Alternative-T;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative T ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CGATTAGCTGCG CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgattagctgcgAGATCGAGACCCGACGC chr19:19098253-Alternative-T;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative T ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct ATTCGAGCAAGT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAattcgagcaagtAGATCGAGACCCGACGC chr19:19098253-Alternative-T;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative T ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct ACCGTCCGTGAA CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAaccgtccgtgaaAGATCGAGACCCGACGC chr19:19098253-Alternative-T;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Variant G ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CGGCTATACTAA CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAcggctatactaaAGATCGAGACCCGACGC chr19:19098253-Variant-G;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Alternative T ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GGCTTAACGATT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctTtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAggcttaacgattAGATCGAGACCCGACGC chr19:19098253-Alternative-T;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Variant G ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct CGCCTATTAACG CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgcctattaacgAGATCGAGACCCGACGC chr19:19098253-Variant-G;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Variant G ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct ATCGTTGGTAAC CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAatcgttggtaacAGATCGAGACCCGACGC chr19:19098253-Variant-G;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Variant G ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct GAGTAGTGGTAT CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAgagtagtggtatAGATCGAGACCCGACGC chr19:19098253-Variant-G;Patient-54 chr19:19098253-CG DeNovo Patient-54 intergenic 0.000446 0.00154 -0.61 0.04 -0.47 DDX49 67768 Variant G ctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcct ACTGTTAGAACG CGACGCGGTCTCTCTCTctttaattctcttttttgtgtgtgttgggggttggcggcagggtcttgctGtgtcgtccaggctgggctgcagtggtgcattcatagctcactgcagcctAGAGGGAGACGGACGTCTCAATAAactgttagaacgAGATCGAGACCCGACGC chr19:19098253-Variant-G;Patient-54 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative G cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GTAAGGCTATCA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgtaaggctatcaAGATCGAGACCCGACGC chr19:19351987-Alternative-G;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Variant T cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GACAAGGTAGGT CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgacaaggtaggtAGATCGAGACCCGACGC chr19:19351987-Variant-T;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Variant T cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag AGATACCTGCAT CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAagatacctgcatAGATCGAGACCCGACGC chr19:19351987-Variant-T;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative G cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag ATCGTAGCACCA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAatcgtagcaccaAGATCGAGACCCGACGC chr19:19351987-Alternative-G;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative A cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GGAATTATCGGT CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAggaattatcggtAGATCGAGACCCGACGC chr19:19351987-Alternative-A;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative G cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GGTGTTGATTCA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAggtgttgattcaAGATCGAGACCCGACGC chr19:19351987-Alternative-G;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Variant T cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GACGCTACTCCT CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgacgctactcctAGATCGAGACCCGACGC chr19:19351987-Variant-T;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative G cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag AAGTTCTGGTGG CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAaagttctggtggAGATCGAGACCCGACGC chr19:19351987-Alternative-G;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Reference C cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag ATTGGATTCTGG CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAattggattctggAGATCGAGACCCGACGC chr19:19351987-Reference-C;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative A cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GGTAAGCGTACC CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAggtaagcgtaccAGATCGAGACCCGACGC chr19:19351987-Alternative-A;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Reference C cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GTTGGCGTGAGA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgttggcgtgagaAGATCGAGACCCGACGC chr19:19351987-Reference-C;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative A cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag CTTATAAGGCGA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAActtataaggcgaAGATCGAGACCCGACGC chr19:19351987-Alternative-A;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative A cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GTTGAACATGCT CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgttgaacatgctAGATCGAGACCCGACGC chr19:19351987-Alternative-A;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Variant T cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GCAACCTATGAA CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgcaacctatgaaAGATCGAGACCCGACGC chr19:19351987-Variant-T;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative A cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag AGGTAGATAGTC CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaActgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAaggtagatagtcAGATCGAGACCCGACGC chr19:19351987-Alternative-A;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Variant T cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GTAGTCAGACGC CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaTctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgtagtcagacgcAGATCGAGACCCGACGC chr19:19351987-Variant-T;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Alternative G cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GGATCGTAACAC CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaGctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAggatcgtaacacAGATCGAGACCCGACGC chr19:19351987-Alternative-G;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Reference C cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag CTGCATCTTAAC CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAActgcatcttaacAGATCGAGACCCGACGC chr19:19351987-Reference-C;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Reference C cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag GTACCGACATCG CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAgtaccgacatcgAGATCGAGACCCGACGC chr19:19351987-Reference-C;Patient-88 chr19:19351987-CT DeNovo Patient-88 intronic NCAN NA 0.000148 -0.05 1.89 0.4 NCAN 29204 Reference C cgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcag CATTGCGTGTGG CGACGCGGTCTCTCTCTcgcctctaatcccagctactcaggaggctgaggcgtgagaatcgcttgaaCctgtgaggcggaggttgcagtgagccgagatcactccactgcacttcagAGAGGGAGACGGACGTCTCAATAAcattgcgtgtggAGATCGAGACCCGACGC chr19:19351987-Reference-C;Patient-88 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Variant T agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg GTCTCGTAAGAA CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAgtctcgtaagaaAGATCGAGACCCGACGC chr19:19480233-Variant-T;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative G agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg GATCACGTTCGG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAgatcacgttcggAGATCGAGACCCGACGC chr19:19480233-Alternative-G;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative G agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ACTCATGCTTGT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAactcatgcttgtAGATCGAGACCCGACGC chr19:19480233-Alternative-G;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Variant T agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CTCTCGATTCTA CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAActctcgattctaAGATCGAGACCCGACGC chr19:19480233-Variant-T;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative G agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ACGCTTGATCAT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAacgcttgatcatAGATCGAGACCCGACGC chr19:19480233-Alternative-G;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Variant T agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CATAGACGGCAG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAcatagacggcagAGATCGAGACCCGACGC chr19:19480233-Variant-T;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative A agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CGTAACTACGCA CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAcgtaactacgcaAGATCGAGACCCGACGC chr19:19480233-Alternative-A;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative A agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CGCATAATACGC CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAcgcataatacgcAGATCGAGACCCGACGC chr19:19480233-Alternative-A;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Variant T agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ATAACATTGGCG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAataacattggcgAGATCGAGACCCGACGC chr19:19480233-Variant-T;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Reference C agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg AAGATCATAGCG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAaagatcatagcgAGATCGAGACCCGACGC chr19:19480233-Reference-C;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Reference C agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CTTGGAATGTGC CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAActtggaatgtgcAGATCGAGACCCGACGC chr19:19480233-Reference-C;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative G agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ATAGCGAAGTCT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAatagcgaagtctAGATCGAGACCCGACGC chr19:19480233-Alternative-G;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Reference C agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg AGGTTAGTAACG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAaggttagtaacgAGATCGAGACCCGACGC chr19:19480233-Reference-C;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Reference C agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg GATGACACGCAT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAgatgacacgcatAGATCGAGACCCGACGC chr19:19480233-Reference-C;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative A agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CAGCTAGCACAT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAcagctagcacatAGATCGAGACCCGACGC chr19:19480233-Alternative-A;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative G agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ACAAGTTCGAAG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgGggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAacaagttcgaagAGATCGAGACCCGACGC chr19:19480233-Alternative-G;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Reference C agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg CTCATCGACGTC CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgCggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAActcatcgacgtcAGATCGAGACCCGACGC chr19:19480233-Reference-C;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Variant T agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg ACCTTAGCGGAG CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgTggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAaccttagcggagAGATCGAGACCCGACGC chr19:19480233-Variant-T;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative A agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg GAGCCTATGTAA CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAgagcctatgtaaAGATCGAGACCCGACGC chr19:19480233-Alternative-A;Patient-39 chr19:19480233-CT DeNovo Patient-39 intergenic 0.000224 0.000513 -0.13 1.12 0.1 GATAD2A 16408 Alternative A agagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtgg AAGCGCAAGCGT CGACGCGGTCTCTCTCTagagtgagaatctgtctcaaaaaaaaaatttttttctctttggtcatgtgAggtagctcacgcctgtaatcccagcactttgggaggccaaggcaggtggAGAGGGAGACGGACGTCTCAATAAaagcgcaagcgtAGATCGAGACCCGACGC chr19:19480233-Alternative-A;Patient-39 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative T gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagtttttt ATCGCACAGTCG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAatcgcacagtcgAGATCGAGACCCGACGC chr19:21405977-Alternative-T;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Reference G gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagtttttt AACGGTGTCTAT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAaacggtgtctatAGATCGAGACCCGACGC chr19:21405977-Reference-G;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative T gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTCGGCATAAGG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgtcggcataaggAGATCGAGACCCGACGC chr19:21405977-Alternative-T;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Reference G gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagtttttt ACCTAACCGTAC CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAacctaaccgtacAGATCGAGACCCGACGC chr19:21405977-Reference-G;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Variant A gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagtttttt ACGTAATCAACC CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAacgtaatcaaccAGATCGAGACCCGACGC chr19:21405977-Variant-A;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Reference G gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTCAGGTAAGCG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgtcaggtaagcgAGATCGAGACCCGACGC chr19:21405977-Reference-G;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative T gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagtttttt CGTAGGTTCGGT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAcgtaggttcggtAGATCGAGACCCGACGC chr19:21405977-Alternative-T;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Reference G gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTTGATGCGAAT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgttgatgcgaatAGATCGAGACCCGACGC chr19:21405977-Reference-G;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Variant A gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagtttttt ATTCACTGCGCG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAattcactgcgcgAGATCGAGACCCGACGC chr19:21405977-Variant-A;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Reference G gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagtttttt CGGAACGCTAAC CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagGtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAcggaacgctaacAGATCGAGACCCGACGC chr19:21405977-Reference-G;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Variant A gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GGTTCGGCAACT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAggttcggcaactAGATCGAGACCCGACGC chr19:21405977-Variant-A;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative C gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GCGGTGATAACG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgcggtgataacgAGATCGAGACCCGACGC chr19:21405977-Alternative-C;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative C gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTAACAAGGTGT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgtaacaaggtgtAGATCGAGACCCGACGC chr19:21405977-Alternative-C;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Variant A gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagtttttt CATGAGATGTGA CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAcatgagatgtgaAGATCGAGACCCGACGC chr19:21405977-Variant-A;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Variant A gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTAAGGCTCTTA CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagAtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgtaaggctcttaAGATCGAGACCCGACGC chr19:21405977-Variant-A;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative T gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagtttttt AGCTATGTGCCG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAagctatgtgccgAGATCGAGACCCGACGC chr19:21405977-Alternative-T;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative T gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GTGACGATACGG CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagTtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAgtgacgatacggAGATCGAGACCCGACGC chr19:21405977-Alternative-T;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative C gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagtttttt AGCTGTTCCACT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAagctgttccactAGATCGAGACCCGACGC chr19:21405977-Alternative-C;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative C gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagtttttt AACGTAGTCGAA CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAaacgtagtcgaaAGATCGAGACCCGACGC chr19:21405977-Alternative-C;Patient-82 chr19:21405977-GA DeNovo Patient-82 intergenic NA 0.000513 0.25 6.6 0.9 ZNF431 81136 Alternative C gaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagtttttt GGTGGATAGATT CGACGCGGTCTCTCTCTgaacatgtttaagagactctcagaatctctaactcagacaattgttcaagCtatgccaggggaaagccacattataaagattgggacaggtaagttttttAGAGGGAGACGGACGTCTCAATAAggtggatagattAGATCGAGACCCGACGC chr19:21405977-Alternative-C;Patient-82 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Variant T gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg AGATGAAGCGAT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAagatgaagcgatAGATCGAGACCCGACGC chr19:21423970-Variant-T;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Variant T gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CTGGTGTAGTAT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActggtgtagtatAGATCGAGACCCGACGC chr19:21423970-Variant-T;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative A gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CGTGCCGTCTAT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgtgccgtctatAGATCGAGACCCGACGC chr19:21423970-Alternative-A;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative A gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GCAACGGTATCA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgcaacggtatcaAGATCGAGACCCGACGC chr19:21423970-Alternative-A;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative A gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GATACTAAGCGA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgatactaagcgaAGATCGAGACCCGACGC chr19:21423970-Alternative-A;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Variant T gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CGCAACGGTGTT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgcaacggtgttAGATCGAGACCCGACGC chr19:21423970-Variant-T;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative A gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg AACTCACGGTAT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaactcacggtatAGATCGAGACCCGACGC chr19:21423970-Alternative-A;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Variant T gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg ACGTAGCTAGAA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAacgtagctagaaAGATCGAGACCCGACGC chr19:21423970-Variant-T;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Variant T gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg ACTCGCATCGAG CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacTgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAactcgcatcgagAGATCGAGACCCGACGC chr19:21423970-Variant-T;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative G gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CACGTTGTCGAG CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcacgttgtcgagAGATCGAGACCCGACGC chr19:21423970-Alternative-G;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative A gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GGCTCATCACGA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacAgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAggctcatcacgaAGATCGAGACCCGACGC chr19:21423970-Alternative-A;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Reference C gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GGACGCTAATGA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAggacgctaatgaAGATCGAGACCCGACGC chr19:21423970-Reference-C;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative G gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CAAGCTGCCAAG CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcaagctgccaagAGATCGAGACCCGACGC chr19:21423970-Alternative-G;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative G gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GTCTAGGACTTA CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgtctaggacttaAGATCGAGACCCGACGC chr19:21423970-Alternative-G;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Reference C gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CTAGTTGTGCTT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActagttgtgcttAGATCGAGACCCGACGC chr19:21423970-Reference-C;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative G gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg AACAGGACACAG CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaacaggacacagAGATCGAGACCCGACGC chr19:21423970-Alternative-G;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Reference C gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg CTATCGAAGACT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActatcgaagactAGATCGAGACCCGACGC chr19:21423970-Reference-C;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Alternative G gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg AAGCGTTGGATT CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacGgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaagcgttggattAGATCGAGACCCGACGC chr19:21423970-Alternative-G;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Reference C gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GATCCGATGTCG CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgatccgatgtcgAGATCGAGACCCGACGC chr19:21423970-Reference-C;Patient-7 chr19:21423970-CT DeNovo Patient-7 intergenic NA 0.000512821 -0.54 0.06 -0.89 ZNF431 99129 Reference C gttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctgg GGTGAACATCGC CGACGCGGTCTCTCTCTgttgctcaagctgaagtgcaatggaaatgatcttggctcaccacaaccacCgcctcctgggctcaagtgattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAggtgaacatcgcAGATCGAGACCCGACGC chr19:21423970-Reference-C;Patient-7 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Reference C ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccat ACAGCAATCCGG CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAacagcaatccggAGATCGAGACCCGACGC chr19:2714302-Reference-C;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Reference C ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccat ACAGCGTTCGGT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAacagcgttcggtAGATCGAGACCCGACGC chr19:2714302-Reference-C;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Reference C ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccat ACCGTCGCAAGT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAaccgtcgcaagtAGATCGAGACCCGACGC chr19:2714302-Reference-C;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Reference C ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccat AGGCTTAGGACG CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAaggcttaggacgAGATCGAGACCCGACGC chr19:2714302-Reference-C;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Reference C ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccat AGTAGCCGAACC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaCcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAagtagccgaaccAGATCGAGACCCGACGC chr19:2714302-Reference-C;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative A ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccat GATTCACGTGAT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAgattcacgtgatAGATCGAGACCCGACGC chr19:2714302-Alternative-A;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative A ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccat CGCCTCGACATT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcgcctcgacattAGATCGAGACCCGACGC chr19:2714302-Alternative-A;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative A ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccat CGGAGGTTACCT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcggaggttacctAGATCGAGACCCGACGC chr19:2714302-Alternative-A;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Variant T ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccat GCGAGTGTTGTC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAgcgagtgttgtcAGATCGAGACCCGACGC chr19:2714302-Variant-T;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Variant T ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccat CGTAAGCTGTGC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcgtaagctgtgcAGATCGAGACCCGACGC chr19:2714302-Variant-T;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative G ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccat AAGTAAGCGGCG CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAaagtaagcggcgAGATCGAGACCCGACGC chr19:2714302-Alternative-G;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative G ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccat CGCTTATCGGAG CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcgcttatcggagAGATCGAGACCCGACGC chr19:2714302-Alternative-G;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative A ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccat CGCCTACTATAT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcgcctactatatAGATCGAGACCCGACGC chr19:2714302-Alternative-A;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative A ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccat ATCAACCGTGAA CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaAcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAatcaaccgtgaaAGATCGAGACCCGACGC chr19:2714302-Alternative-A;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative G ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccat GATCCTTCATAC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAgatccttcatacAGATCGAGACCCGACGC chr19:2714302-Alternative-G;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative G ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccat GCCTTACTATAC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAgccttactatacAGATCGAGACCCGACGC chr19:2714302-Alternative-G;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Variant T ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccat AGCGGAACCTGT CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAagcggaacctgtAGATCGAGACCCGACGC chr19:2714302-Variant-T;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Alternative G ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccat CATTAAGACCAC CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaGcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAcattaagaccacAGATCGAGACCCGACGC chr19:2714302-Alternative-G;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Variant T ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccat GTGTAGGTGATA CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAgtgtaggtgataAGATCGAGACCCGACGC chr19:2714302-Variant-T;Patient-89 chr19:2714302-CT DeNovo Patient-89 intergenic 0.000583 0.00872 -0.13 1.14 -1.84 GNG7 11555 Variant T ccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccat ACGTAGACAACA CGACGCGGTCTCTCTCTccttcatcccatccctcacttcctacacccaccaccttctcaacccttcaTcccatccctcacttcctccacccaccacctcctccacccttcatcccatAGAGGGAGACGGACGTCTCAATAAacgtagacaacaAGATCGAGACCCGACGC chr19:2714302-Variant-T;Patient-89 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative G ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CAATATCGTACC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcaatatcgtaccAGATCGAGACCCGACGC chr19:29607764-Alternative-G;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative G ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga AACAGCGTCGTC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAaacagcgtcgtcAGATCGAGACCCGACGC chr19:29607764-Alternative-G;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative G ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CGTTGGAGGTTC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcgttggaggttcAGATCGAGACCCGACGC chr19:29607764-Alternative-G;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative G ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga ACTTAGCGGTCG CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAacttagcggtcgAGATCGAGACCCGACGC chr19:29607764-Alternative-G;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative G ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CATTGTTCTCGA CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaGtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcattgttctcgaAGATCGAGACCCGACGC chr19:29607764-Alternative-G;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Variant T ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga AGAGTACGTCGC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAagagtacgtcgcAGATCGAGACCCGACGC chr19:29607764-Variant-T;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative C ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga GTAGATTCGCCA CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAgtagattcgccaAGATCGAGACCCGACGC chr19:29607764-Alternative-C;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Variant T ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga ACTATGGTCGGC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAactatggtcggcAGATCGAGACCCGACGC chr19:29607764-Variant-T;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Variant T ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga AAGTATTCGTCG CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAaagtattcgtcgAGATCGAGACCCGACGC chr19:29607764-Variant-T;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative C ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga GCGGCTTGTCTT CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAgcggcttgtcttAGATCGAGACCCGACGC chr19:29607764-Alternative-C;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Variant T ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CACTATTGTCGT CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcactattgtcgtAGATCGAGACCCGACGC chr19:29607764-Variant-T;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Reference A ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga ATTCGGCCACCA CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAattcggccaccaAGATCGAGACCCGACGC chr19:29607764-Reference-A;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Reference A ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga AGGTACCGTAGA CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAaggtaccgtagaAGATCGAGACCCGACGC chr19:29607764-Reference-A;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative C ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga ATCGTACCAACA CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAatcgtaccaacaAGATCGAGACCCGACGC chr19:29607764-Alternative-C;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative C ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CAAGTACGAGGT CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcaagtacgaggtAGATCGAGACCCGACGC chr19:29607764-Alternative-C;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Reference A ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CGTACTCTCGAC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcgtactctcgacAGATCGAGACCCGACGC chr19:29607764-Reference-A;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Variant T ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga GATTAATTCGGC CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaTtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAgattaattcggcAGATCGAGACCCGACGC chr19:29607764-Variant-T;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Alternative C ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CAGCACCAATGT CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaCtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcagcaccaatgtAGATCGAGACCCGACGC chr19:29607764-Alternative-C;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Reference A ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga CGAGGTACAAGT CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAcgaggtacaagtAGATCGAGACCCGACGC chr19:29607764-Reference-A;Patient-37 chr19:29607764-AT DeNovo Patient-37 intergenic NA 0.000512821 0.06 3.64 0.5 UQCRFS1 96371 Reference A ctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggaggga GCAGGTGAATCG CGACGCGGTCTCTCTCTctatcactgaaagaaggtatgtgatatggtttggctctgtccccacccaaAtctcatcttgaattgtagttcccataatccccacatgttgtgggagggaAGAGGGAGACGGACGTCTCAATAAgcaggtgaatcgAGATCGAGACCCGACGC chr19:29607764-Reference-A;Patient-37 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Variant G gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttcctt GACCTTGCTTAT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAgaccttgcttatAGATCGAGACCCGACGC chr19:29734075-Variant-G;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Variant G gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttcctt GGCGCTATGAAC CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAggcgctatgaacAGATCGAGACCCGACGC chr19:29734075-Variant-G;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative T gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttcctt GCGTTAACGACT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAgcgttaacgactAGATCGAGACCCGACGC chr19:29734075-Alternative-T;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Variant G gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttcctt GGTAAGCGGACA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAggtaagcggacaAGATCGAGACCCGACGC chr19:29734075-Variant-G;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative T gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttcctt AACGTCGCTGAC CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAaacgtcgctgacAGATCGAGACCCGACGC chr19:29734075-Alternative-T;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Variant G gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttcctt GGTGAACCTTAT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAggtgaaccttatAGATCGAGACCCGACGC chr19:29734075-Variant-G;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Reference A gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttcctt CGGCGTAAGGTT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAcggcgtaaggttAGATCGAGACCCGACGC chr19:29734075-Reference-A;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Reference A gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttcctt ACTTGGTATGCA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAacttggtatgcaAGATCGAGACCCGACGC chr19:29734075-Reference-A;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative C gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttcctt GCGCATCGTAGA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAgcgcatcgtagaAGATCGAGACCCGACGC chr19:29734075-Alternative-C;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Variant G gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttcctt GGTAATCGCGTC CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaGgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAggtaatcgcgtcAGATCGAGACCCGACGC chr19:29734075-Variant-G;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Reference A gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttcctt CATTGAACGAGT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAcattgaacgagtAGATCGAGACCCGACGC chr19:29734075-Reference-A;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative T gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttcctt AAGATCGCGGCA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAaagatcgcggcaAGATCGAGACCCGACGC chr19:29734075-Alternative-T;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative C gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttcctt ATTGTTAGACGG CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAattgttagacggAGATCGAGACCCGACGC chr19:29734075-Alternative-C;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative C gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttcctt CGACCGTGAATC CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAcgaccgtgaatcAGATCGAGACCCGACGC chr19:29734075-Alternative-C;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Reference A gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttcctt AACTTCCTGGTT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAaacttcctggttAGATCGAGACCCGACGC chr19:29734075-Reference-A;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative T gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttcctt ACGGTGGTCTGT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAacggtggtctgtAGATCGAGACCCGACGC chr19:29734075-Alternative-T;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Reference A gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttcctt AAGTTGACTCGT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaAgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAaagttgactcgtAGATCGAGACCCGACGC chr19:29734075-Reference-A;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative T gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttcctt GCGAGATCATGT CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaTgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAgcgagatcatgtAGATCGAGACCCGACGC chr19:29734075-Alternative-T;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative C gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttcctt CGGCGTGTTAGA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAcggcgtgttagaAGATCGAGACCCGACGC chr19:29734075-Alternative-C;Patient-27 chr19:29734075-AG DeNovo Patient-27 intergenic NA 0.000513 -0.2 0.71 -3.93 UQCRFS1 29938 Alternative C gagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttcctt ACGCCTTATCTA CGACGCGGTCTCTCTCTgagaggttatacttaatgaatctccctgtttttcaaaatatcagacagtaCgggactttattccttccttcttccctgtctcccatacatttccttccttAGAGGGAGACGGACGTCTCAATAAacgccttatctaAGATCGAGACCCGACGC chr19:29734075-Alternative-C;Patient-27 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Reference G aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg GCGTCGCTTGTT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAgcgtcgcttgttAGATCGAGACCCGACGC chr19:30169218-Reference-G;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative T aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg GCAAGCAGTAGA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAgcaagcagtagaAGATCGAGACCCGACGC chr19:30169218-Alternative-T;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative T aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg AGTTGACTCTGA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAagttgactctgaAGATCGAGACCCGACGC chr19:30169218-Alternative-T;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Reference G aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CGTTAACGATGT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcgttaacgatgtAGATCGAGACCCGACGC chr19:30169218-Reference-G;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative T aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg GCAGTAACAGCT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAgcagtaacagctAGATCGAGACCCGACGC chr19:30169218-Alternative-T;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Reference G aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CGTTGATCCAGG CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcgttgatccaggAGATCGAGACCCGACGC chr19:30169218-Reference-G;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Reference G aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg ATAGACACCGCG CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAatagacaccgcgAGATCGAGACCCGACGC chr19:30169218-Reference-G;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Variant A aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg ATTACCGACTTC CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAattaccgacttcAGATCGAGACCCGACGC chr19:30169218-Variant-A;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Reference G aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CACTTACCATCA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttGaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcacttaccatcaAGATCGAGACCCGACGC chr19:30169218-Reference-G;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative T aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CTTGTCGAAGAT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAActtgtcgaagatAGATCGAGACCCGACGC chr19:30169218-Alternative-T;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Variant A aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg AGTCGCGCGAAT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAagtcgcgcgaatAGATCGAGACCCGACGC chr19:30169218-Variant-A;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Variant A aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg AGATCGGCAAGT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAagatcggcaagtAGATCGAGACCCGACGC chr19:30169218-Variant-A;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative T aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CGACAGCAGTAT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttTaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcgacagcagtatAGATCGAGACCCGACGC chr19:30169218-Alternative-T;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative C aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg ACCTACGTACGC CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAacctacgtacgcAGATCGAGACCCGACGC chr19:30169218-Alternative-C;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Variant A aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CTTGAGTGCGCA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAActtgagtgcgcaAGATCGAGACCCGACGC chr19:30169218-Variant-A;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative C aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg GATTCGGCGTGT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAgattcggcgtgtAGATCGAGACCCGACGC chr19:30169218-Alternative-C;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative C aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg AATAGGCTAACC CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAaataggctaaccAGATCGAGACCCGACGC chr19:30169218-Alternative-C;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative C aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CGAACGAGATGA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcgaacgagatgaAGATCGAGACCCGACGC chr19:30169218-Alternative-C;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Variant A aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg GACGCGAATTAT CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttAaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAgacgcgaattatAGATCGAGACCCGACGC chr19:30169218-Variant-A;Patient-53 chr19:30169218-GA DeNovo Patient-53 intergenic NA 0.000513 -0.12 1.21 -2.12 C19orf12 37477 Alternative C aagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctggg CGCCAACACCTA CGACGCGGTCTCTCTCTaagcagaatgacccccaggactgcatggtgtttggggccagtgtgagtttCaatgaatcggggtccctggccactgaggcacagaggggagtatgctgggAGAGGGAGACGGACGTCTCAATAAcgccaacacctaAGATCGAGACCCGACGC chr19:30169218-Alternative-C;Patient-53 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Variant G cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTACCATCAAGG CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActaccatcaaggAGATCGAGACCCGACGC chr19:30374664-Variant-G;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative T cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CATTACCACGTT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAcattaccacgttAGATCGAGACCCGACGC chr19:30374664-Alternative-T;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative T cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc GTTAACACGCTA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAgttaacacgctaAGATCGAGACCCGACGC chr19:30374664-Alternative-T;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Variant G cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc GATGCGCAGACT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAgatgcgcagactAGATCGAGACCCGACGC chr19:30374664-Variant-G;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative T cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CGCAACCTTCAT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAcgcaaccttcatAGATCGAGACCCGACGC chr19:30374664-Alternative-T;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative A cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CGCTTACCGAAG CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAcgcttaccgaagAGATCGAGACCCGACGC chr19:30374664-Alternative-A;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative T cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc ACTGTCCGACGT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAactgtccgacgtAGATCGAGACCCGACGC chr19:30374664-Alternative-T;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative T cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTGGTTGCAATC CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacTcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActggttgcaatcAGATCGAGACCCGACGC chr19:30374664-Alternative-T;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Variant G cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CGGAACACGACT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAcggaacacgactAGATCGAGACCCGACGC chr19:30374664-Variant-G;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative A cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTAAGCGGTCGT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActaagcggtcgtAGATCGAGACCCGACGC chr19:30374664-Alternative-A;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative A cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc ACGTGGTCGAGA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAacgtggtcgagaAGATCGAGACCCGACGC chr19:30374664-Alternative-A;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative A cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc GTACGCAACGAG CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAgtacgcaacgagAGATCGAGACCCGACGC chr19:30374664-Alternative-A;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Reference C cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc ACCGAACGCTTA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAaccgaacgcttaAGATCGAGACCCGACGC chr19:30374664-Reference-C;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Reference C cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTAGTAGAACGG CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActagtagaacggAGATCGAGACCCGACGC chr19:30374664-Reference-C;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Variant G cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc ACTCCTTCTTGT CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAactccttcttgtAGATCGAGACCCGACGC chr19:30374664-Variant-G;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Reference C cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc GTGACCGCAATA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAgtgaccgcaataAGATCGAGACCCGACGC chr19:30374664-Reference-C;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Reference C cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTAATTGGATGC CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActaattggatgcAGATCGAGACCCGACGC chr19:30374664-Reference-C;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Variant G cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc AGCTTGAGCTAA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacGcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAagcttgagctaaAGATCGAGACCCGACGC chr19:30374664-Variant-G;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Alternative A cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CGGAGATTCGCA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacAcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAAcggagattcgcaAGATCGAGACCCGACGC chr19:30374664-Alternative-A;Patient-36 chr19:30374664-CG DeNovo Patient-36 intergenic NA 0.000512821 -0.2 0.7 0.25 URI1 39886 Reference C cagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctc CTAAGATCGGAA CGACGCGGTCTCTCTCTcagcaaattttttttttttttttttttgagacagagtcttgctctgtcacCcaggctggagtacagtggcacgatcttggctcactgcaagctccgcctcAGAGGGAGACGGACGTCTCAATAActaagatcggaaAGATCGAGACCCGACGC chr19:30374664-Reference-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative C ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacaca CACGATGTAACG CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAcacgatgtaacgAGATCGAGACCCGACGC chr19:30375304-Alternative-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative T ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GTCGAGTCGAAG CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgtcgagtcgaagAGATCGAGACCCGACGC chr19:30375304-Alternative-T;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Reference G ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacaca AATATAGCGGCA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAaatatagcggcaAGATCGAGACCCGACGC chr19:30375304-Reference-G;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative C ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GGTGAGTCTATA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAggtgagtctataAGATCGAGACCCGACGC chr19:30375304-Alternative-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative C ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GCCTTACATGTT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgccttacatgttAGATCGAGACCCGACGC chr19:30375304-Alternative-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Reference G ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacaca CGCGCAGAGATA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAcgcgcagagataAGATCGAGACCCGACGC chr19:30375304-Reference-G;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Variant A ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacaca GCATGGCTTGGT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgcatggcttggtAGATCGAGACCCGACGC chr19:30375304-Variant-A;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Reference G ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacaca AGGTAGCGTGGT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAaggtagcgtggtAGATCGAGACCCGACGC chr19:30375304-Reference-G;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative T ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacaca AATACCGGTTCA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAaataccggttcaAGATCGAGACCCGACGC chr19:30375304-Alternative-T;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Variant A ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacaca ACGCAGTCGTGT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAacgcagtcgtgtAGATCGAGACCCGACGC chr19:30375304-Variant-A;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Variant A ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacaca ATTGACGGCCGT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAattgacggccgtAGATCGAGACCCGACGC chr19:30375304-Variant-A;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Variant A ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacaca CATTCGATACGA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAcattcgatacgaAGATCGAGACCCGACGC chr19:30375304-Variant-A;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Reference G ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GCCGCGATAATT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgccgcgataattAGATCGAGACCCGACGC chr19:30375304-Reference-G;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative T ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GGAGTATGTCAA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAggagtatgtcaaAGATCGAGACCCGACGC chr19:30375304-Alternative-T;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative T ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacaca CGCCTTGAGTAC CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAcgccttgagtacAGATCGAGACCCGACGC chr19:30375304-Alternative-T;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Reference G ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacaca CTGCGCAGTCAT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatGctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAActgcgcagtcatAGATCGAGACCCGACGC chr19:30375304-Reference-G;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative C ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GCGCGTGATTCT CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgcgcgtgattctAGATCGAGACCCGACGC chr19:30375304-Alternative-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative T ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacaca GGAGTAACGCCA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatTctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAggagtaacgccaAGATCGAGACCCGACGC chr19:30375304-Alternative-T;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Alternative C ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacaca AGGAGAATGGAA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatCctttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAaggagaatggaaAGATCGAGACCCGACGC chr19:30375304-Alternative-C;Patient-36 chr19:30375304-GA DeNovo Patient-36 intergenic NA 0.000513 -0.09 1.45 0.47 URI1 39246 Variant A ggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacaca GATCGACCAAGA CGACGCGGTCTCTCTCTggttacacaaattaaggtgaaccgaatacatctatatttagcaagtgaatActttaacttcaacacacatagatacttcctagaaaccctccccaacacaAGAGGGAGACGGACGTCTCAATAAgatcgaccaagaAGATCGAGACCCGACGC chr19:30375304-Variant-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Reference T tctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcataca AACGAACACGAT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAaacgaacacgatAGATCGAGACCCGACGC chr19:30388808-Reference-T;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative A tctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcataca GGAATTGTGAGT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAggaattgtgagtAGATCGAGACCCGACGC chr19:30388808-Alternative-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative C tctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcataca ATCTGCTTGACT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAatctgcttgactAGATCGAGACCCGACGC chr19:30388808-Alternative-C;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative A tctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcataca GAGTGTACAGAT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAgagtgtacagatAGATCGAGACCCGACGC chr19:30388808-Alternative-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative C tctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcataca ACGTCTGGATAT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAacgtctggatatAGATCGAGACCCGACGC chr19:30388808-Alternative-C;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative C tctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcataca AGACGATCCGTC CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAagacgatccgtcAGATCGAGACCCGACGC chr19:30388808-Alternative-C;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Reference T tctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcataca GGCTAACAACCG CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAggctaacaaccgAGATCGAGACCCGACGC chr19:30388808-Reference-T;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative A tctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcataca CGTGTCTCTGAC CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAcgtgtctctgacAGATCGAGACCCGACGC chr19:30388808-Alternative-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Reference T tctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcataca ACGGCATACGCT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAacggcatacgctAGATCGAGACCCGACGC chr19:30388808-Reference-T;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative C tctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcataca GATGCTCGTGGT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAgatgctcgtggtAGATCGAGACCCGACGC chr19:30388808-Alternative-C;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Reference T tctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcataca AAGACGAGGACG CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAaagacgaggacgAGATCGAGACCCGACGC chr19:30388808-Reference-T;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative C tctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcataca ATCATACTTCGG CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattCtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAatcatacttcggAGATCGAGACCCGACGC chr19:30388808-Alternative-C;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative A tctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcataca ACTGAGGTTCTA CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAactgaggttctaAGATCGAGACCCGACGC chr19:30388808-Alternative-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Reference T tctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcataca AAGACTGACGGC CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattTtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAaagactgacggcAGATCGAGACCCGACGC chr19:30388808-Reference-T;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Alternative A tctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcataca AGCTCCGTTGCT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattAtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAagctccgttgctAGATCGAGACCCGACGC chr19:30388808-Alternative-A;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Variant G tctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcataca CTAGTGACGAAT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAActagtgacgaatAGATCGAGACCCGACGC chr19:30388808-Variant-G;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Variant G tctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcataca GTACTTAATCGC CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAgtacttaatcgcAGATCGAGACCCGACGC chr19:30388808-Variant-G;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Variant G tctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcataca GACTATTCGCCT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAgactattcgcctAGATCGAGACCCGACGC chr19:30388808-Variant-G;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Variant G tctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcataca GTGAACGCAACG CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAAgtgaacgcaacgAGATCGAGACCCGACGC chr19:30388808-Variant-G;Patient-36 chr19:30388808-TG DeNovo Patient-36 intergenic 0.000938 0.0441 0 2.6 0 URI1 25742 Variant G tctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcataca CTCGCGTGCATT CGACGCGGTCTCTCTCTtctctggctcttgtgaataaacaataaacattttaatttttatttttattGtttttttttattttttttttttaaaggacatatcatatttattcatacaAGAGGGAGACGGACGTCTCAATAActcgcgtgcattAGATCGAGACCCGACGC chr19:30388808-Variant-G;Patient-36 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative C gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacgga GTTATCACGCGG CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgttatcacgcggAGATCGAGACCCGACGC chr19:3216782-Alternative-C;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative C gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacgga GTTACCGCCATC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgttaccgccatcAGATCGAGACCCGACGC chr19:3216782-Alternative-C;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative C gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacgga AACGATCGGCGT CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAaacgatcggcgtAGATCGAGACCCGACGC chr19:3216782-Alternative-C;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative T gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacgga CTCTCACCGAGA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAActctcaccgagaAGATCGAGACCCGACGC chr19:3216782-Alternative-T;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative C gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacgga AATCGGCGACAC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAaatcggcgacacAGATCGAGACCCGACGC chr19:3216782-Alternative-C;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Variant A gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacgga AGCCAACAGATA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAagccaacagataAGATCGAGACCCGACGC chr19:3216782-Variant-A;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative T gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacgga ACAACTGGCGTC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAacaactggcgtcAGATCGAGACCCGACGC chr19:3216782-Alternative-T;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative T gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacgga ACCGGATGGTAC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAaccggatggtacAGATCGAGACCCGACGC chr19:3216782-Alternative-T;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative T gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacgga GTTACGCGGCAT CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgttacgcggcatAGATCGAGACCCGACGC chr19:3216782-Alternative-T;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Variant A gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacgga GTAGCGGTGACT CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgtagcggtgactAGATCGAGACCCGACGC chr19:3216782-Variant-A;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Variant A gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacgga ATTCCGACACCG CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAattccgacaccgAGATCGAGACCCGACGC chr19:3216782-Variant-A;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Variant A gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacgga CTAATCGGCTAT CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAActaatcggctatAGATCGAGACCCGACGC chr19:3216782-Variant-A;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Variant A gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacgga GCAAGGCTATAA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattAccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgcaaggctataaAGATCGAGACCCGACGC chr19:3216782-Variant-A;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Reference G gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacgga GACCGAGTCTGA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgaccgagtctgaAGATCGAGACCCGACGC chr19:3216782-Reference-G;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative C gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacgga AATCGTACGGAT CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattCccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAaatcgtacggatAGATCGAGACCCGACGC chr19:3216782-Alternative-C;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Alternative T gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacgga CTTGTACTCCAA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattTccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAActtgtactccaaAGATCGAGACCCGACGC chr19:3216782-Alternative-T;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Reference G gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacgga CACAACACCAAC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAcacaacaccaacAGATCGAGACCCGACGC chr19:3216782-Reference-G;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Reference G gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacgga GCGTTCGAGTAA CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgcgttcgagtaaAGATCGAGACCCGACGC chr19:3216782-Reference-G;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Reference G gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacgga AATCTGGCCGAC CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAaatctggccgacAGATCGAGACCCGACGC chr19:3216782-Reference-G;Patient-30 chr19:3216782-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA S1PR4 38045 Reference G gagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacgga GAAGTGTCGTGG CGACGCGGTCTCTCTCTgagcaagtctctatctcaaaaaaaaaaaaaagaaatttaaaaatagaattGccataagagccagcattcccactcctgggtatattcccagcaaaacggaAGAGGGAGACGGACGTCTCAATAAgaagtgtcgtggAGATCGAGACCCGACGC chr19:3216782-Reference-G;Patient-30 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative G caccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggcta GTCGAAGTGTTC CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAgtcgaagtgttcAGATCGAGACCCGACGC chr19:3301347-Alternative-G;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative G caccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CGGACGCTAGTT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAcggacgctagttAGATCGAGACCCGACGC chr19:3301347-Alternative-G;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative G caccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggcta GAGGTTGTCTTA CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAgaggttgtcttaAGATCGAGACCCGACGC chr19:3301347-Alternative-G;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Reference T caccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggcta AACAGACGACAT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAaacagacgacatAGATCGAGACCCGACGC chr19:3301347-Reference-T;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative G caccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CTACGGCAAGTC CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAActacggcaagtcAGATCGAGACCCGACGC chr19:3301347-Alternative-G;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative G caccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggcta AGGACTTATTCG CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttGttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAaggacttattcgAGATCGAGACCCGACGC chr19:3301347-Alternative-G;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative A caccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggcta ACTTAGCGATAC CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAacttagcgatacAGATCGAGACCCGACGC chr19:3301347-Alternative-A;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative A caccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggcta AAGCGTTGTTCT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAaagcgttgttctAGATCGAGACCCGACGC chr19:3301347-Alternative-A;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative A caccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggcta ATCGTTCGCGGT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAatcgttcgcggtAGATCGAGACCCGACGC chr19:3301347-Alternative-A;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Variant C caccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CTGAAGTCGGAG CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAActgaagtcggagAGATCGAGACCCGACGC chr19:3301347-Variant-C;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Variant C caccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggcta GTATAGCGGATA CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAgtatagcggataAGATCGAGACCCGACGC chr19:3301347-Variant-C;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative A caccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggcta AGAGTGCGGTAT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAagagtgcggtatAGATCGAGACCCGACGC chr19:3301347-Alternative-A;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Reference T caccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CGGAATTCGTCG CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAcggaattcgtcgAGATCGAGACCCGACGC chr19:3301347-Reference-T;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Variant C caccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggcta AGTTAGGACCGG CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAagttaggaccggAGATCGAGACCCGACGC chr19:3301347-Variant-C;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Reference T caccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggcta ACGCAAGATAAC CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAacgcaagataacAGATCGAGACCCGACGC chr19:3301347-Reference-T;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Reference T caccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CGGATCATTAGT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAcggatcattagtAGATCGAGACCCGACGC chr19:3301347-Reference-T;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Alternative A caccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CACATTACGTCT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttAttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAcacattacgtctAGATCGAGACCCGACGC chr19:3301347-Alternative-A;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Reference T caccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggcta ACAGGTCTGTCG CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttTttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAacaggtctgtcgAGATCGAGACCCGACGC chr19:3301347-Reference-T;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Variant C caccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggcta CGCGACAACACT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAcgcgacaacactAGATCGAGACCCGACGC chr19:3301347-Variant-C;Patient-77 chr19:3301347-TC DeNovo Patient-77 intergenic 0.000226 0.000512821 NA NA NA NFIC 58213 Variant C caccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggcta GACCTGTAACCT CGACGCGGTCTCTCTCTcaccgcacccggcaggggtttttttctgttttttttttttttttttttttCttttttttttttttttttaagacagagtctcgctctgtcacccaggctaAGAGGGAGACGGACGTCTCAATAAgacctgtaacctAGATCGAGACCCGACGC chr19:3301347-Variant-C;Patient-77 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Reference A ttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt AAGCGTTCGACG CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAaagcgttcgacgAGATCGAGACCCGACGC chr19:33872392-Reference-A;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Reference A ttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt CGCGTTAACGAC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAcgcgttaacgacAGATCGAGACCCGACGC chr19:33872392-Reference-A;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Reference A ttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt AAGCAGTTCGAA CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAaagcagttcgaaAGATCGAGACCCGACGC chr19:33872392-Reference-A;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative T ttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt GCGCATGGTAAC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAgcgcatggtaacAGATCGAGACCCGACGC chr19:33872392-Alternative-T;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative T ttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt GTTGTGGTGCAC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAgttgtggtgcacAGATCGAGACCCGACGC chr19:33872392-Alternative-T;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative T ttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt ACTGGCGTCACT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAactggcgtcactAGATCGAGACCCGACGC chr19:33872392-Alternative-T;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative T ttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt CGATACAGTTCT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAcgatacagttctAGATCGAGACCCGACGC chr19:33872392-Alternative-T;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative T ttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt ACTACGAACCTT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacTccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAactacgaaccttAGATCGAGACCCGACGC chr19:33872392-Alternative-T;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Variant G ttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt AGTCATGTCTGA CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAagtcatgtctgaAGATCGAGACCCGACGC chr19:33872392-Variant-G;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Variant G ttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt GCGTGACCGTAA CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAgcgtgaccgtaaAGATCGAGACCCGACGC chr19:33872392-Variant-G;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Variant G ttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt GCAGGATCGTCT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAgcaggatcgtctAGATCGAGACCCGACGC chr19:33872392-Variant-G;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Variant G ttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt AAGGACATTCGC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAaaggacattcgcAGATCGAGACCCGACGC chr19:33872392-Variant-G;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Variant G ttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt CGGTAGGATCGT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacGccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAcggtaggatcgtAGATCGAGACCCGACGC chr19:33872392-Variant-G;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Reference A ttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt AGTGCTATCCGC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAagtgctatccgcAGATCGAGACCCGACGC chr19:33872392-Reference-A;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Reference A ttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt CAGACGGTACAG CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacAccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAcagacggtacagAGATCGAGACCCGACGC chr19:33872392-Reference-A;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative C ttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt ACTCCTTCTGAA CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAactccttctgaaAGATCGAGACCCGACGC chr19:33872392-Alternative-C;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative C ttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt ACCGATCAAGAT CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAaccgatcaagatAGATCGAGACCCGACGC chr19:33872392-Alternative-C;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative C ttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt ACGACACTTACA CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAacgacacttacaAGATCGAGACCCGACGC chr19:33872392-Alternative-C;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative C ttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt GTAATGATGCAG CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAgtaatgatgcagAGATCGAGACCCGACGC chr19:33872392-Alternative-C;Patient-30 chr19:33872392-AG Inherited Patient-30 3 prime UTR CEBPG 0.000478 0.00016 NA NA NA CEBPG 7816 Alternative C ttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgttt CAGCTGTAACGC CGACGCGGTCTCTCTCTttaactccctatagagccaggagacaggataggggtttctagggtccaacCccagcttaccttggagtatgaatctacccatgaaggatgagagatgtttAGAGGGAGACGGACGTCTCAATAAcagctgtaacgcAGATCGAGACCCGACGC chr19:33872392-Alternative-C;Patient-30 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Variant C gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc ACGACATCTGCG CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAacgacatctgcgAGATCGAGACCCGACGC chr19:34294736-Variant-C;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Reference T gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc AGTATTCTCCGT CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAagtattctccgtAGATCGAGACCCGACGC chr19:34294736-Reference-T;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Variant C gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CATAGACTACGC CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcatagactacgcAGATCGAGACCCGACGC chr19:34294736-Variant-C;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Reference T gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc AAGTCGGCGTGA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAaagtcggcgtgaAGATCGAGACCCGACGC chr19:34294736-Reference-T;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Reference T gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CGGCGGTGATAT CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcggcggtgatatAGATCGAGACCCGACGC chr19:34294736-Reference-T;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative A gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc ATCTTAACGGAC CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAatcttaacggacAGATCGAGACCCGACGC chr19:34294736-Alternative-A;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative A gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc ACGTAACCGAAT CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAacgtaaccgaatAGATCGAGACCCGACGC chr19:34294736-Alternative-A;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Reference T gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc AAGTACGTTGAG CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAaagtacgttgagAGATCGAGACCCGACGC chr19:34294736-Reference-T;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative A gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CGGTCTACGCAA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcggtctacgcaaAGATCGAGACCCGACGC chr19:34294736-Alternative-A;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Reference T gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc GCGACCTGTCAA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaTtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAgcgacctgtcaaAGATCGAGACCCGACGC chr19:34294736-Reference-T;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative A gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CTAAGGACGCGA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAActaaggacgcgaAGATCGAGACCCGACGC chr19:34294736-Alternative-A;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Variant C gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc GACAAGACGTCG CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAgacaagacgtcgAGATCGAGACCCGACGC chr19:34294736-Variant-C;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative G gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc AGTAGAGCACGA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAagtagagcacgaAGATCGAGACCCGACGC chr19:34294736-Alternative-G;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative G gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CAGTACGGCGAA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcagtacggcgaaAGATCGAGACCCGACGC chr19:34294736-Alternative-G;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative G gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CAGCGTACCAAG CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcagcgtaccaagAGATCGAGACCCGACGC chr19:34294736-Alternative-G;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative G gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CTGGTTGTAACA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAActggttgtaacaAGATCGAGACCCGACGC chr19:34294736-Alternative-G;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Variant C gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc GCATCGCGATTA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAgcatcgcgattaAGATCGAGACCCGACGC chr19:34294736-Variant-C;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative G gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc GACGAATGGTTA CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaGtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAgacgaatggttaAGATCGAGACCCGACGC chr19:34294736-Alternative-G;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Alternative A gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc ACATCGTAGGTT CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaAtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAacatcgtaggttAGATCGAGACCCGACGC chr19:34294736-Alternative-A;Patient-96 chr19:34294736-TC DeNovo Patient-96 intronic KCTD15 NA 9.8e-05 1.09 13.83 2.53 KCTD15 6984 Variant C gccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggc CGTGCATTAAGT CGACGCGGTCTCTCTCTgccaggagcttcagaactcttaaaacctggtgcctgaaacagccaggaaaCtggagccagagcttaaaaaaaaaaaggaaataaacgagaagacgaaggcAGAGGGAGACGGACGTCTCAATAAcgtgcattaagtAGATCGAGACCCGACGC chr19:34294736-Variant-C;Patient-96 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative G gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CTCTCGCAAGTC CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAActctcgcaagtcAGATCGAGACCCGACGC chr19:34296431-Alternative-G;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Reference T gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CGACCAATATCG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcgaccaatatcgAGATCGAGACCCGACGC chr19:34296431-Reference-T;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative A gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc ACCTAAGCTGTT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAacctaagctgttAGATCGAGACCCGACGC chr19:34296431-Alternative-A;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative G gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CTTGAACATCAG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAActtgaacatcagAGATCGAGACCCGACGC chr19:34296431-Alternative-G;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Variant C gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CAACGGTATGGT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcaacggtatggtAGATCGAGACCCGACGC chr19:34296431-Variant-C;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Variant C gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc GATAAGCACGCG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAgataagcacgcgAGATCGAGACCCGACGC chr19:34296431-Variant-C;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Variant C gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc AGTTATGGCGGT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAagttatggcggtAGATCGAGACCCGACGC chr19:34296431-Variant-C;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Reference T gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CGGCTGTTGCTA CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcggctgttgctaAGATCGAGACCCGACGC chr19:34296431-Reference-T;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Reference T gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc ACAGGTATCACG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAacaggtatcacgAGATCGAGACCCGACGC chr19:34296431-Reference-T;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Reference T gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc AACACAGAGGCG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAaacacagaggcgAGATCGAGACCCGACGC chr19:34296431-Reference-T;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Reference T gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CGCCGGATTGTT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggTgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcgccggattgttAGATCGAGACCCGACGC chr19:34296431-Reference-T;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative G gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc GTGGCGTGTCTT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAgtggcgtgtcttAGATCGAGACCCGACGC chr19:34296431-Alternative-G;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Variant C gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CACGTGACTACG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcacgtgactacgAGATCGAGACCCGACGC chr19:34296431-Variant-C;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Variant C gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc ACCGCATGTATC CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggCgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAaccgcatgtatcAGATCGAGACCCGACGC chr19:34296431-Variant-C;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative A gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc AGCCGAATTCGG CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAagccgaattcggAGATCGAGACCCGACGC chr19:34296431-Alternative-A;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative A gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc GTACAAGCAAGT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAgtacaagcaagtAGATCGAGACCCGACGC chr19:34296431-Alternative-A;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative G gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CGAGAGTATCCA CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcgagagtatccaAGATCGAGACCCGACGC chr19:34296431-Alternative-G;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative A gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc CAGCGGAAGTAT CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAcagcggaagtatAGATCGAGACCCGACGC chr19:34296431-Alternative-A;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative G gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc ACTCGCATGCGA CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggGgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAactcgcatgcgaAGATCGAGACCCGACGC chr19:34296431-Alternative-G;Patient-20 chr19:34296431-TC DeNovo Patient-20 intronic KCTD15 NA 4.95e-05 0.16 5.23 0.5 KCTD15 8679 Alternative A gagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggc GCGCCGTAGATA CGACGCGGTCTCTCTCTgagtgggctgctgttagaacagggggcatccctgcaggggtccctgctggAgcaggcagagagtgaggggcttaggctccagattgtgtgcaggccgggcAGAGGGAGACGGACGTCTCAATAAgcgccgtagataAGATCGAGACCCGACGC chr19:34296431-Alternative-A;Patient-20 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative G cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct ACGACACCTATA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAacgacacctataAGATCGAGACCCGACGC chr19:35536643-Alternative-G;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Variant T cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GCGCCTAACCTA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgcgcctaacctaAGATCGAGACCCGACGC chr19:35536643-Variant-T;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative A cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GACGAATGCAAG CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgacgaatgcaagAGATCGAGACCCGACGC chr19:35536643-Alternative-A;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative A cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CACATCAATGCT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAcacatcaatgctAGATCGAGACCCGACGC chr19:35536643-Alternative-A;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative G cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct AGGAACAGATGT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAaggaacagatgtAGATCGAGACCCGACGC chr19:35536643-Alternative-G;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Reference C cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GCGGTTGTGTTC CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgcggttgtgttcAGATCGAGACCCGACGC chr19:35536643-Reference-C;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Variant T cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct AACAACCGCCAA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAaacaaccgccaaAGATCGAGACCCGACGC chr19:35536643-Variant-T;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Variant T cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct AGGTTGATCTAC CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAaggttgatctacAGATCGAGACCCGACGC chr19:35536643-Variant-T;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative A cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CGTCGAACGAAC CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAcgtcgaacgaacAGATCGAGACCCGACGC chr19:35536643-Alternative-A;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative G cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CGCGATGTACGA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAcgcgatgtacgaAGATCGAGACCCGACGC chr19:35536643-Alternative-G;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Variant T cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GTATCGCGATCG CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgtatcgcgatcgAGATCGAGACCCGACGC chr19:35536643-Variant-T;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Reference C cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GTTGGCATCACA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgttggcatcacaAGATCGAGACCCGACGC chr19:35536643-Reference-C;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative A cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct ATAGCAACGTGA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAatagcaacgtgaAGATCGAGACCCGACGC chr19:35536643-Alternative-A;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Variant T cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CACGAAGAATGT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaTgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAcacgaagaatgtAGATCGAGACCCGACGC chr19:35536643-Variant-T;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Reference C cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct ACGATAGCCTTA CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAacgatagccttaAGATCGAGACCCGACGC chr19:35536643-Reference-C;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative A cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GCGGAATGTCCT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaAgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgcggaatgtcctAGATCGAGACCCGACGC chr19:35536643-Alternative-A;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Reference C cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct GAATTATGCGGT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAgaattatgcggtAGATCGAGACCCGACGC chr19:35536643-Reference-C;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Reference C cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct AATACGCGTCAT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaCgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAaatacgcgtcatAGATCGAGACCCGACGC chr19:35536643-Reference-C;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative G cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CTGTCGGAGGTT CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAActgtcggaggttAGATCGAGACCCGACGC chr19:35536643-Alternative-G;Patient-26 chr19:35536643-CT DeNovo Patient-26 intronic HPN 0.000183 0.000891 -0.12 1.24 -1.03 HPN 5232 Alternative G cgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgct CACGATATCGAC CGACGCGGTCTCTCTCTcgtcccacaccctgggccagatgaggatgctgcctgtcccagtagagacaGgcagggaggatgaggatgcgtcccacaccgtgggccagatgaggatgctAGAGGGAGACGGACGTCTCAATAAcacgatatcgacAGATCGAGACCCGACGC chr19:35536643-Alternative-G;Patient-26 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Reference C ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GCAACGCTCTGA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgcaacgctctgaAGATCGAGACCCGACGC chr19:35840371-Reference-C;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Reference C ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc CGGCGGCATATA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAcggcggcatataAGATCGAGACCCGACGC chr19:35840371-Reference-C;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Reference C ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GCGAGAGTTGCA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgcgagagttgcaAGATCGAGACCCGACGC chr19:35840371-Reference-C;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Reference C ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GTCGAATGCGCT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgtcgaatgcgctAGATCGAGACCCGACGC chr19:35840371-Reference-C;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Variant A ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GGAATAAGCGCG CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAggaataagcgcgAGATCGAGACCCGACGC chr19:35840371-Variant-A;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative T ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GATCAAGCAACC CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgatcaagcaaccAGATCGAGACCCGACGC chr19:35840371-Alternative-T;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative T ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc ATCATCGCAGTT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAatcatcgcagttAGATCGAGACCCGACGC chr19:35840371-Alternative-T;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative G ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc CGCGTATGCAAG CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAcgcgtatgcaagAGATCGAGACCCGACGC chr19:35840371-Alternative-G;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative T ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc ACAAGTCGAACT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAacaagtcgaactAGATCGAGACCCGACGC chr19:35840371-Alternative-T;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Variant A ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc ACTGGTCGCGAA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAactggtcgcgaaAGATCGAGACCCGACGC chr19:35840371-Variant-A;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Variant A ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc CAGAGCGCTAAC CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAcagagcgctaacAGATCGAGACCCGACGC chr19:35840371-Variant-A;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative G ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GACGACTTGACC CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgacgacttgaccAGATCGAGACCCGACGC chr19:35840371-Alternative-G;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative G ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GGTTGCACATAT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAggttgcacatatAGATCGAGACCCGACGC chr19:35840371-Alternative-G;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Variant A ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GATATGAGTACG CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgatatgagtacgAGATCGAGACCCGACGC chr19:35840371-Variant-A;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Reference C ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GGTAGTCCGGTT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaCaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAggtagtccggttAGATCGAGACCCGACGC chr19:35840371-Reference-C;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative G ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GACTATCAACGT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAgactatcaacgtAGATCGAGACCCGACGC chr19:35840371-Alternative-G;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative T ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc GGCCGTAGATGT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAggccgtagatgtAGATCGAGACCCGACGC chr19:35840371-Alternative-T;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative T ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc AACAACCGTACA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaTaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAaacaaccgtacaAGATCGAGACCCGACGC chr19:35840371-Alternative-T;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Alternative G ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc ACGTAGCTACGT CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaGaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAacgtagctacgtAGATCGAGACCCGACGC chr19:35840371-Alternative-G;Patient-92 chr19:35840371-CA Inherited Patient-92 intergenic 0.000764 0.00308 0.01 2.73 0.47 CD22 20301 Variant A ccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgc AGCGGCTGTCTA CGACGCGGTCTCTCTCTccacactgctgtggattcttcctccattctgtccatttctcagttcccaaAaacacactgaacagtaggaggccagttctccgctcacagcgggcgctgcAGAGGGAGACGGACGTCTCAATAAagcggctgtctaAGATCGAGACCCGACGC chr19:35840371-Variant-A;Patient-92 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Reference G caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac AAGTGTCGTTGT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAaagtgtcgttgtAGATCGAGACCCGACGC chr19:3697123-Reference-G;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative T caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GTCTCGACGAGT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgtctcgacgagtAGATCGAGACCCGACGC chr19:3697123-Alternative-T;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative T caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac ACAGGAGTACTA CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAacaggagtactaAGATCGAGACCCGACGC chr19:3697123-Alternative-T;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Reference G caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac ACAGCAACAAGG CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAacagcaacaaggAGATCGAGACCCGACGC chr19:3697123-Reference-G;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative T caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GTACTGAACATC CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgtactgaacatcAGATCGAGACCCGACGC chr19:3697123-Alternative-T;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative T caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac ATTACCTCCGGT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAattacctccggtAGATCGAGACCCGACGC chr19:3697123-Alternative-T;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Reference G caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GTTGGAGCACGA CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgttggagcacgaAGATCGAGACCCGACGC chr19:3697123-Reference-G;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative T caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac CGAAGTACCGTC CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacTaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAcgaagtaccgtcAGATCGAGACCCGACGC chr19:3697123-Alternative-T;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Variant A caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac AGCATTCGACAT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAagcattcgacatAGATCGAGACCCGACGC chr19:3697123-Variant-A;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Reference G caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac ACGCAGCTAAGG CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAacgcagctaaggAGATCGAGACCCGACGC chr19:3697123-Reference-G;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Variant A caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac ACTTGCGACACG CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAacttgcgacacgAGATCGAGACCCGACGC chr19:3697123-Variant-A;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Variant A caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac CTGCATGTCGTC CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAActgcatgtcgtcAGATCGAGACCCGACGC chr19:3697123-Variant-A;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Reference G caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GAGTTGTGTAGA CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacGaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgagttgtgtagaAGATCGAGACCCGACGC chr19:3697123-Reference-G;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative C caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac AACTAACGCCAC CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAaactaacgccacAGATCGAGACCCGACGC chr19:3697123-Alternative-C;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Variant A caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac AATCTTGGTTCG CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAaatcttggttcgAGATCGAGACCCGACGC chr19:3697123-Variant-A;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Variant A caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GATCGTGGTTAT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacAaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgatcgtggttatAGATCGAGACCCGACGC chr19:3697123-Variant-A;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative C caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac CGAACTCAAGCT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAcgaactcaagctAGATCGAGACCCGACGC chr19:3697123-Alternative-C;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative C caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GTCGTTCATGCA CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgtcgttcatgcaAGATCGAGACCCGACGC chr19:3697123-Alternative-C;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative C caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac AAGGCTCGAACT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAaaggctcgaactAGATCGAGACCCGACGC chr19:3697123-Alternative-C;Patient-37 chr19:3697123-GA DeNovo Patient-37 intronic PIP5K1C 0.000294 4.95e-05 -0.44 0.14 -0.72 PIP5K1C 3353 Alternative C caaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggac GCAATCCGGCTT CGACGCGGTCTCTCTCTcaaggaggaccgagctggaccgaggaggaccaaggaggaccgagccagacCaaggaggactgagccggacgaaggagaaccgagccggacagaggaggacAGAGGGAGACGGACGTCTCAATAAgcaatccggcttAGATCGAGACCCGACGC chr19:3697123-Alternative-C;Patient-37 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative G ccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctccccc GCAACTGCGATT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAgcaactgcgattAGATCGAGACCCGACGC chr19:376850-Alternative-G;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative G ccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AGCTCTAAGCAT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAagctctaagcatAGATCGAGACCCGACGC chr19:376850-Alternative-G;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Variant A ccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctccccc GGTGTCTCTGCT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAggtgtctctgctAGATCGAGACCCGACGC chr19:376850-Variant-A;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative G ccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctccccc GGAATTCGCAAT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAggaattcgcaatAGATCGAGACCCGACGC chr19:376850-Alternative-G;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Variant A ccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AAGGCGATTCAA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAaaggcgattcaaAGATCGAGACCCGACGC chr19:376850-Variant-A;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative G ccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CGTTATAATCGG CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAcgttataatcggAGATCGAGACCCGACGC chr19:376850-Alternative-G;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Variant A ccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CTGCGAATGTCG CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAActgcgaatgtcgAGATCGAGACCCGACGC chr19:376850-Variant-A;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative C ccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AGGTGACTCCGT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAaggtgactccgtAGATCGAGACCCGACGC chr19:376850-Alternative-C;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Reference T ccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctccccc GTAGTAAGCTGA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAgtagtaagctgaAGATCGAGACCCGACGC chr19:376850-Reference-T;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative G ccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CGTGTTCGTAAG CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgGgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAcgtgttcgtaagAGATCGAGACCCGACGC chr19:376850-Alternative-G;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Reference T ccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CGCTAATAACGA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAcgctaataacgaAGATCGAGACCCGACGC chr19:376850-Reference-T;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Variant A ccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AGGCAGTACGGT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAaggcagtacggtAGATCGAGACCCGACGC chr19:376850-Variant-A;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative C ccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctccccc ATTGCGTCATGA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAattgcgtcatgaAGATCGAGACCCGACGC chr19:376850-Alternative-C;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Reference T ccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctccccc ATCTCACGCGGT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAatctcacgcggtAGATCGAGACCCGACGC chr19:376850-Reference-T;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Variant A ccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctccccc GTAACTTGGTGT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgAgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAgtaacttggtgtAGATCGAGACCCGACGC chr19:376850-Variant-A;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Reference T ccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CATGCGTATAGA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAcatgcgtatagaAGATCGAGACCCGACGC chr19:376850-Reference-T;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative C ccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AGATGGTAGTCA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAagatggtagtcaAGATCGAGACCCGACGC chr19:376850-Alternative-C;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative C ccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctccccc AGATTAGGACGC CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAagattaggacgcAGATCGAGACCCGACGC chr19:376850-Alternative-C;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Reference T ccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctccccc ACCTACGCCTGA CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgTgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAacctacgcctgaAGATCGAGACCCGACGC chr19:376850-Reference-T;Patient-39 chr19:376850-TA DeNovo Patient-39 intergenic NA 0.000513 0.38 8.12 0 SHC2 84145 Alternative C ccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctccccc CGAAGAGCAACT CGACGCGGTCTCTCTCTccccacccagcctctccccctccgtgccccacccagcctctccccccccgCgcctccacccagcctctccccctctgtgcccccacccagcctctcccccAGAGGGAGACGGACGTCTCAATAAcgaagagcaactAGATCGAGACCCGACGC chr19:376850-Alternative-C;Patient-39 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Reference C gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ATTGATTAGCGG CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAattgattagcggAGATCGAGACCCGACGC chr19:38703539-Reference-C;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Reference C gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ATCACGTGAATC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAatcacgtgaatcAGATCGAGACCCGACGC chr19:38703539-Reference-C;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Reference C gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GGATATGGTCGG CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAggatatggtcggAGATCGAGACCCGACGC chr19:38703539-Reference-C;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Reference C gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ACTCTACGCAAT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAactctacgcaatAGATCGAGACCCGACGC chr19:38703539-Reference-C;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative A gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata CTTACACCATAC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAActtacaccatacAGATCGAGACCCGACGC chr19:38703539-Alternative-A;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative A gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata AATGTTGGTCGT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAaatgttggtcgtAGATCGAGACCCGACGC chr19:38703539-Alternative-A;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative A gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GTTATGATGACC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAgttatgatgaccAGATCGAGACCCGACGC chr19:38703539-Alternative-A;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative A gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GACTATGCTAAC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAgactatgctaacAGATCGAGACCCGACGC chr19:38703539-Alternative-A;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Reference C gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ACGTTCGGTCCT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcCaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAacgttcggtcctAGATCGAGACCCGACGC chr19:38703539-Reference-C;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Variant T gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GTCGAGTAACTT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAgtcgagtaacttAGATCGAGACCCGACGC chr19:38703539-Variant-T;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Variant T gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GGAGTACAGACT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAggagtacagactAGATCGAGACCCGACGC chr19:38703539-Variant-T;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Variant T gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata CGTATCTGTTGT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAcgtatctgttgtAGATCGAGACCCGACGC chr19:38703539-Variant-T;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative A gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GCGTACGTCGAA CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcAaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAgcgtacgtcgaaAGATCGAGACCCGACGC chr19:38703539-Alternative-A;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Variant T gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ACATAACAGGAC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAacataacaggacAGATCGAGACCCGACGC chr19:38703539-Variant-T;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative G gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata GTTACTGGCACA CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAgttactggcacaAGATCGAGACCCGACGC chr19:38703539-Alternative-G;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Variant T gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata CTCGCGACGATA CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcTaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAActcgcgacgataAGATCGAGACCCGACGC chr19:38703539-Variant-T;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative G gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ATAAGCGAGAAG CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAataagcgagaagAGATCGAGACCCGACGC chr19:38703539-Alternative-G;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative G gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ATAGTGTACCGT CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAatagtgtaccgtAGATCGAGACCCGACGC chr19:38703539-Alternative-G;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative G gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata ACGTACACCTTC CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAacgtacaccttcAGATCGAGACCCGACGC chr19:38703539-Alternative-G;Patient-99 chr19:38703539-CT DeNovo Patient-99 intronic DPF1 NA 4.95e-05 0.04 3.24 0.39 DPF1 16777 Alternative G gggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgata AGCTTAAGATGG CGACGCGGTCTCTCTCTgggctcaaaattcctcagcctcccaaagtgctgggattacacaggtgggcGaccgctcccggtctgtgggaagtttaaatgacaccaagatgatctgataAGAGGGAGACGGACGTCTCAATAAagcttaagatggAGATCGAGACCCGACGC chr19:38703539-Alternative-G;Patient-99 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Reference G agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CGCGGTTAATAA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAcgcggttaataaAGATCGAGACCCGACGC chr19:38751813-Reference-G;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Reference G agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag ACGATCTTCACG CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAacgatcttcacgAGATCGAGACCCGACGC chr19:38751813-Reference-G;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Reference G agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CGAGCTCTATGG CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAcgagctctatggAGATCGAGACCCGACGC chr19:38751813-Reference-G;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Reference G agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag ACGTTATACGGC CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAacgttatacggcAGATCGAGACCCGACGC chr19:38751813-Reference-G;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Reference G agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CAACGCGCGATA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaGgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAcaacgcgcgataAGATCGAGACCCGACGC chr19:38751813-Reference-G;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative A agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag AGCAATCCTGAA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAagcaatcctgaaAGATCGAGACCCGACGC chr19:38751813-Alternative-A;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Variant C agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GTGATATGTCGT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAgtgatatgtcgtAGATCGAGACCCGACGC chr19:38751813-Variant-C;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative T agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GATGAAGTCAGA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAgatgaagtcagaAGATCGAGACCCGACGC chr19:38751813-Alternative-T;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Variant C agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag AGTAGAGGCGGT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAagtagaggcggtAGATCGAGACCCGACGC chr19:38751813-Variant-C;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative T agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GGTTGCTCACGA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAggttgctcacgaAGATCGAGACCCGACGC chr19:38751813-Alternative-T;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative A agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag AGTACCGTCTAA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAagtaccgtctaaAGATCGAGACCCGACGC chr19:38751813-Alternative-A;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative A agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag ATTCACGACGAT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAattcacgacgatAGATCGAGACCCGACGC chr19:38751813-Alternative-A;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative T agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GAGAGTACCTAC CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAgagagtacctacAGATCGAGACCCGACGC chr19:38751813-Alternative-T;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative A agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag AGACGACCAAGT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAagacgaccaagtAGATCGAGACCCGACGC chr19:38751813-Alternative-A;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Variant C agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag AACAACGCGCGT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAaacaacgcgcgtAGATCGAGACCCGACGC chr19:38751813-Variant-C;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative A agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GATTAGCGACGG CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaAgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAgattagcgacggAGATCGAGACCCGACGC chr19:38751813-Alternative-A;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Variant C agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag GAGTACCTCGGT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAgagtacctcggtAGATCGAGACCCGACGC chr19:38751813-Variant-C;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative T agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CTAGGCGGTATC CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAActaggcggtatcAGATCGAGACCCGACGC chr19:38751813-Alternative-T;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Variant C agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CACTGAACGATT CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaCgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAcactgaacgattAGATCGAGACCCGACGC chr19:38751813-Variant-C;Patient-110 chr19:38751813-GC Inherited Patient-110 intergenic NA 3.98e-05 -0.12 1.2 0 DPF1 31495 Alternative T agacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgag CATTCGAAGTCA CGACGCGGTCTCTCTCTagacaggatttctccatgttggtcaggatggtcttgaactcccgacctcaTgtgatccgctcgcctcggcctcccaaagtgctgagattacaggtgtgagAGAGGGAGACGGACGTCTCAATAAcattcgaagtcaAGATCGAGACCCGACGC chr19:38751813-Alternative-T;Patient-110 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative T cctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GCGACGGAATCA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgcgacggaatcaAGATCGAGACCCGACGC chr19:39031532-Alternative-T;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative T cctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatat CTCGTACCACGT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAActcgtaccacgtAGATCGAGACCCGACGC chr19:39031532-Alternative-T;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative T cctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GTGAGACACCAT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgtgagacaccatAGATCGAGACCCGACGC chr19:39031532-Alternative-T;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Variant A cctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GTGTAGCTACTA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgtgtagctactaAGATCGAGACCCGACGC chr19:39031532-Variant-A;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative C cctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GCGTATCGCGTT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgcgtatcgcgttAGATCGAGACCCGACGC chr19:39031532-Alternative-C;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Variant A cctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GCGTATAGTTGT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgcgtatagttgtAGATCGAGACCCGACGC chr19:39031532-Variant-A;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Variant A cctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatat AGACCTCTACGA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAagacctctacgaAGATCGAGACCCGACGC chr19:39031532-Variant-A;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Variant A cctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatat AAGCGTACGTCG CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAaagcgtacgtcgAGATCGAGACCCGACGC chr19:39031532-Variant-A;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Variant A cctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatat ACCTGGATATCA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtAtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAacctggatatcaAGATCGAGACCCGACGC chr19:39031532-Variant-A;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Reference G cctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatat ATATGGAGCCGC CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAatatggagccgcAGATCGAGACCCGACGC chr19:39031532-Reference-G;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative C cctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatat CGAAGTACGCCT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAcgaagtacgcctAGATCGAGACCCGACGC chr19:39031532-Alternative-C;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative T cctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GTCAGTTACAAG CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgtcagttacaagAGATCGAGACCCGACGC chr19:39031532-Alternative-T;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative C cctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatat CTCAATCCGCAG CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAActcaatccgcagAGATCGAGACCCGACGC chr19:39031532-Alternative-C;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative C cctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GACGATCCATTA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgacgatccattaAGATCGAGACCCGACGC chr19:39031532-Alternative-C;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative C cctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatat AGCTGGTCTATA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtCtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAagctggtctataAGATCGAGACCCGACGC chr19:39031532-Alternative-C;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Alternative T cctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatat ATCATAGACGCT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtTtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAatcatagacgctAGATCGAGACCCGACGC chr19:39031532-Alternative-T;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Reference G cctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatat CTATCGACAGTT CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAActatcgacagttAGATCGAGACCCGACGC chr19:39031532-Reference-G;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Reference G cctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatat CGGCAAGCATCA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAcggcaagcatcaAGATCGAGACCCGACGC chr19:39031532-Reference-G;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Reference G cctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatat GTGTCTCTGGCA CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAgtgtctctggcaAGATCGAGACCCGACGC chr19:39031532-Reference-G;Patient-82 chr19:39031532-GA DeNovo Patient-82 intronic RYR1 NA 0.000841 -0.13 1.18 0 MAP4K1 77110 Reference G cctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatat AAGTCGCCGAAG CGACGCGGTCTCTCTCTcctccaatcatatactacagtgtaataaacctccaatcatatactacagtGtaataaacctccaatcatatactacagtgtaataaacctccaatcatatAGAGGGAGACGGACGTCTCAATAAaagtcgccgaagAGATCGAGACCCGACGC chr19:39031532-Reference-G;Patient-82 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Reference G acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GCGCTCTTAAGG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgcgctcttaaggAGATCGAGACCCGACGC chr19:39155019-Reference-G;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Reference G acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GACGGTGAGGTT CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgacggtgaggttAGATCGAGACCCGACGC chr19:39155019-Reference-G;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Reference G acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg AGGCTGCCACTA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAaggctgccactaAGATCGAGACCCGACGC chr19:39155019-Reference-G;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Reference G acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CTAATCATAGCG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAActaatcatagcgAGATCGAGACCCGACGC chr19:39155019-Reference-G;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative T acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GATCGTCGCGTT CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgatcgtcgcgttAGATCGAGACCCGACGC chr19:39155019-Alternative-T;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative T acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CGGATATCGGAC CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcggatatcggacAGATCGAGACCCGACGC chr19:39155019-Alternative-T;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Reference G acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg AGACCATCTCAA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccGagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAagaccatctcaaAGATCGAGACCCGACGC chr19:39155019-Reference-G;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Variant A acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CATAAGGAACGG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcataaggaacggAGATCGAGACCCGACGC chr19:39155019-Variant-A;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative T acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GGAGATGCGCTT CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAggagatgcgcttAGATCGAGACCCGACGC chr19:39155019-Alternative-T;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Variant A acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GATGGTGAACGA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgatggtgaacgaAGATCGAGACCCGACGC chr19:39155019-Variant-A;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Variant A acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg ACGTAACAGCTA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAacgtaacagctaAGATCGAGACCCGACGC chr19:39155019-Variant-A;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative C acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GATGCTTGGTCG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgatgcttggtcgAGATCGAGACCCGACGC chr19:39155019-Alternative-C;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative T acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GGTAGCACAACC CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAggtagcacaaccAGATCGAGACCCGACGC chr19:39155019-Alternative-T;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative C acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg AGTATCCTGGCG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAagtatcctggcgAGATCGAGACCCGACGC chr19:39155019-Alternative-C;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Variant A acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CGACTGTACTAA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcgactgtactaaAGATCGAGACCCGACGC chr19:39155019-Variant-A;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative C acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CAACCGACCTAC CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcaaccgacctacAGATCGAGACCCGACGC chr19:39155019-Alternative-C;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Variant A acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CATGAAGTCGGC CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccAagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcatgaagtcggcAGATCGAGACCCGACGC chr19:39155019-Variant-A;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative C acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg GCGGCGTACTAA CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAgcggcgtactaaAGATCGAGACCCGACGC chr19:39155019-Alternative-C;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative T acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg ATCGACCATACG CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccTagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAatcgaccatacgAGATCGAGACCCGACGC chr19:39155019-Alternative-T;Patient-37 chr19:39155019-GA DeNovo Patient-37 intronic ACTN4 NA 4.95e-05 -0.03 2.19 -2.17 ACTN4 16751 Alternative C acttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttg CGTAGGACGTCT CGACGCGGTCTCTCTCTacttaaataccgcagtgtccttgatattgccttccccacaccgacaaaccCagttgcattctggtcccactgtgggataaggttagggtagcggcgcttgAGAGGGAGACGGACGTCTCAATAAcgtaggacgtctAGATCGAGACCCGACGC chr19:39155019-Alternative-C;Patient-37 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Variant A ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CGCGCGTGATAA CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcgcgcgtgataaAGATCGAGACCCGACGC chr19:39189788-Variant-A;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Variant A ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt ACCATTGCGCCA CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAaccattgcgccaAGATCGAGACCCGACGC chr19:39189788-Variant-A;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative T ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt GTCTAGAAGCTT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAgtctagaagcttAGATCGAGACCCGACGC chr19:39189788-Alternative-T;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Reference C ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CGGAACGTCAGT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcggaacgtcagtAGATCGAGACCCGACGC chr19:39189788-Reference-C;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Reference C ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt ACACGGCCAATC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAacacggccaatcAGATCGAGACCCGACGC chr19:39189788-Reference-C;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Variant A ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CAACGATTATGC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcaacgattatgcAGATCGAGACCCGACGC chr19:39189788-Variant-A;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative T ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt AGACTACTACGC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAagactactacgcAGATCGAGACCCGACGC chr19:39189788-Alternative-T;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative T ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt GTTCGTAGACTA CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAgttcgtagactaAGATCGAGACCCGACGC chr19:39189788-Alternative-T;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Reference C ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt AAGACCTAGTCT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAaagacctagtctAGATCGAGACCCGACGC chr19:39189788-Reference-C;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative T ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt ACTTACTCGACT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAacttactcgactAGATCGAGACCCGACGC chr19:39189788-Alternative-T;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Reference C ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CATGCGAATAAC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcatgcgaataacAGATCGAGACCCGACGC chr19:39189788-Reference-C;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative T ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CTAGTGGATTCA CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgTctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAActagtggattcaAGATCGAGACCCGACGC chr19:39189788-Alternative-T;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative G ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CGATGTACGACC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcgatgtacgaccAGATCGAGACCCGACGC chr19:39189788-Alternative-G;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Variant A ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt GACGACTACTAT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAgacgactactatAGATCGAGACCCGACGC chr19:39189788-Variant-A;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative G ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt ACTATTGTCGAG CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAactattgtcgagAGATCGAGACCCGACGC chr19:39189788-Alternative-G;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Variant A ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt ATCCGATAGTAC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgActgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAatccgatagtacAGATCGAGACCCGACGC chr19:39189788-Variant-A;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative G ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CGAGAATCGTGC CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcgagaatcgtgcAGATCGAGACCCGACGC chr19:39189788-Alternative-G;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Reference C ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt AGCTTGTACTGA CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgCctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAagcttgtactgaAGATCGAGACCCGACGC chr19:39189788-Reference-C;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative G ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt CGCTATAACGAG CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAcgctataacgagAGATCGAGACCCGACGC chr19:39189788-Alternative-G;Patient-89 chr19:39189788-CA Inherited Patient-89 intronic ACTN4 NA 4.95e-05 0.03 3.14 -0.67 ACTN4 51520 Alternative G ttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgt AGGCCATCGTCT CGACGCGGTCTCTCTCTttcccaggtcctgttgcaggagggtgcgtgggctggtttccctgaaggcgGctgggcgtgttggtgttaactgatctgagatcttctgtggccctgatgtAGAGGGAGACGGACGTCTCAATAAaggccatcgtctAGATCGAGACCCGACGC chr19:39189788-Alternative-G;Patient-89 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative G agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggct CACGGCTGAATC CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAcacggctgaatcAGATCGAGACCCGACGC chr19:39537484-Alternative-G;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative G agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggct AGGCTCTAAGCG CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAaggctctaagcgAGATCGAGACCCGACGC chr19:39537484-Alternative-G;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative G agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GGAGATCCAAGA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAggagatccaagaAGATCGAGACCCGACGC chr19:39537484-Alternative-G;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative G agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggct AGCTCGGTATAT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAagctcggtatatAGATCGAGACCCGACGC chr19:39537484-Alternative-G;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative G agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GTGGCCGTGTTA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaGattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAgtggccgtgttaAGATCGAGACCCGACGC chr19:39537484-Alternative-G;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Reference T agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggct AAGGCTAACTGA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAaaggctaactgaAGATCGAGACCCGACGC chr19:39537484-Reference-T;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative A agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggct AGAACGGCATTA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAagaacggcattaAGATCGAGACCCGACGC chr19:39537484-Alternative-A;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative A agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggct CGGTCATCGGAT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAcggtcatcggatAGATCGAGACCCGACGC chr19:39537484-Alternative-A;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative A agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GTTCGTTCATAC CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAgttcgttcatacAGATCGAGACCCGACGC chr19:39537484-Alternative-A;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative A agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GACTATCTCGTT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAgactatctcgttAGATCGAGACCCGACGC chr19:39537484-Alternative-A;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Variant C agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GCATCGAGTTCG CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAgcatcgagttcgAGATCGAGACCCGACGC chr19:39537484-Variant-C;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Alternative A agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggct AACAGCGGACGA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaAattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAaacagcggacgaAGATCGAGACCCGACGC chr19:39537484-Alternative-A;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Reference T agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggct ACAGCTTGTCAA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAacagcttgtcaaAGATCGAGACCCGACGC chr19:39537484-Reference-T;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Reference T agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GGAACAAGTCAT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAggaacaagtcatAGATCGAGACCCGACGC chr19:39537484-Reference-T;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Reference T agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggct GCGGTGTACGTT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAgcggtgtacgttAGATCGAGACCCGACGC chr19:39537484-Reference-T;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Variant C agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggct ACGTGTGCTGCA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAacgtgtgctgcaAGATCGAGACCCGACGC chr19:39537484-Variant-C;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Reference T agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggct CTAACGGAGCTA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaTattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAActaacggagctaAGATCGAGACCCGACGC chr19:39537484-Reference-T;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Variant C agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggct ACGTTCACGGCA CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAacgttcacggcaAGATCGAGACCCGACGC chr19:39537484-Variant-C;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Variant C agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggct CATCCAATCCGG CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAcatccaatccggAGATCGAGACCCGACGC chr19:39537484-Variant-C;Patient-79 chr19:39537484-TC DeNovo Patient-79 intergenic 3.2e-05 0.000513 0.55 9.86 0.16 PAK4 78935 Variant C agccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggct ACGAGCACGAAT CGACGCGGTCTCTCTCTagccatgggagggtttgaagtagggatgttatctgattcaggcattgtgaCattgtgatttacaataagatatatgtacaattggctgggcgtggtggctAGAGGGAGACGGACGTCTCAATAAacgagcacgaatAGATCGAGACCCGACGC chr19:39537484-Variant-C;Patient-79 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative G cgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc AAGTGATACACG CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAaagtgatacacgAGATCGAGACCCGACGC chr19:39553103-Alternative-G;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative G cgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CTTGCGGCATCA CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAActtgcggcatcaAGATCGAGACCCGACGC chr19:39553103-Alternative-G;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Variant T cgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc AGTAACGGCGAC CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAagtaacggcgacAGATCGAGACCCGACGC chr19:39553103-Variant-T;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Reference C cgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GACGTATGGTGG CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAgacgtatggtggAGATCGAGACCCGACGC chr19:39553103-Reference-C;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Reference C cgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CAGTTCTGCGAC CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcagttctgcgacAGATCGAGACCCGACGC chr19:39553103-Reference-C;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative G cgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CTGAGTGTAGAA CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAActgagtgtagaaAGATCGAGACCCGACGC chr19:39553103-Alternative-G;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Reference C cgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CAGGAGTCCACT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcaggagtccactAGATCGAGACCCGACGC chr19:39553103-Reference-C;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative G cgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CGATTGTGCGCA CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcgattgtgcgcaAGATCGAGACCCGACGC chr19:39553103-Alternative-G;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Variant T cgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc ACAGATGTCTGT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAacagatgtctgtAGATCGAGACCCGACGC chr19:39553103-Variant-T;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative G cgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GCGATACTACTA CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactGttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAgcgatactactaAGATCGAGACCCGACGC chr19:39553103-Alternative-G;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Reference C cgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CATCGGCGTTGT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcatcggcgttgtAGATCGAGACCCGACGC chr19:39553103-Reference-C;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative A cgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GCGGAGGTTCAT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAgcggaggttcatAGATCGAGACCCGACGC chr19:39553103-Alternative-A;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Reference C cgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GACCAACAACGC CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactCttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAgaccaacaacgcAGATCGAGACCCGACGC chr19:39553103-Reference-C;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Variant T cgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GGCGTCTATCCT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAggcgtctatcctAGATCGAGACCCGACGC chr19:39553103-Variant-T;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Variant T cgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GGCAGTATCACA CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAggcagtatcacaAGATCGAGACCCGACGC chr19:39553103-Variant-T;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative A cgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CGCGAACTTATT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcgcgaacttattAGATCGAGACCCGACGC chr19:39553103-Alternative-A;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative A cgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CGATGTACCTTC CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcgatgtaccttcAGATCGAGACCCGACGC chr19:39553103-Alternative-A;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative A cgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CATAACGTGACT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAcataacgtgactAGATCGAGACCCGACGC chr19:39553103-Alternative-A;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Variant T cgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc CTAGATACTGCT CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactTttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAActagatactgctAGATCGAGACCCGACGC chr19:39553103-Variant-T;Patient-54 chr19:39553103-CT DeNovo Patient-54 intergenic NA 0.000512821 -0.08 1.61 0.24 PAK4 63316 Alternative A cgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaacc GTTGTGTTCAAG CGACGCGGTCTCTCTCTcgcctgggtgttttttttttttttttttttttttgagacagagtttcactAttgttgcccaggctggagagcaatagctcgatctcagctcactgcaaccAGAGGGAGACGGACGTCTCAATAAgttgtgttcaagAGATCGAGACCCGACGC chr19:39553103-Alternative-A;Patient-54 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative G gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga AGATCGGCTAGG CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAagatcggctaggAGATCGAGACCCGACGC chr19:3958176-Alternative-G;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative G gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GGATAGCAACGC CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAggatagcaacgcAGATCGAGACCCGACGC chr19:3958176-Alternative-G;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative G gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga AAGGTAGCTTCT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAaaggtagcttctAGATCGAGACCCGACGC chr19:3958176-Alternative-G;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative G gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga AAGGTACACAGG CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAaaggtacacaggAGATCGAGACCCGACGC chr19:3958176-Alternative-G;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Reference T gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CTATGGTGTCTT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAActatggtgtcttAGATCGAGACCCGACGC chr19:3958176-Reference-T;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative A gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CTAGGCGCACTT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAActaggcgcacttAGATCGAGACCCGACGC chr19:3958176-Alternative-A;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative G gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CTGCGTACACCA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgGaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAActgcgtacaccaAGATCGAGACCCGACGC chr19:3958176-Alternative-G;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative A gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga ATACTTAGCGAC CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAatacttagcgacAGATCGAGACCCGACGC chr19:3958176-Alternative-A;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Variant C gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CTAGCGGCTGAT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAActagcggctgatAGATCGAGACCCGACGC chr19:3958176-Variant-C;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative A gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GATTCTCGCGCT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAgattctcgcgctAGATCGAGACCCGACGC chr19:3958176-Alternative-A;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Reference T gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GTATCGCGAATA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAgtatcgcgaataAGATCGAGACCCGACGC chr19:3958176-Reference-T;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Reference T gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga ATCGCGTAGTTA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAatcgcgtagttaAGATCGAGACCCGACGC chr19:3958176-Reference-T;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Variant C gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga ACCTCGAAGTTA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAacctcgaagttaAGATCGAGACCCGACGC chr19:3958176-Variant-C;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Reference T gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GATTACGGACGG CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAgattacggacggAGATCGAGACCCGACGC chr19:3958176-Reference-T;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative A gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga ACATCGTCACGA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAacatcgtcacgaAGATCGAGACCCGACGC chr19:3958176-Alternative-A;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Reference T gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CGGATCTTGTCG CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgTaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAcggatcttgtcgAGATCGAGACCCGACGC chr19:3958176-Reference-T;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Variant C gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga ACGCAACTCGCA CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAacgcaactcgcaAGATCGAGACCCGACGC chr19:3958176-Variant-C;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Variant C gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GTCGTCGTCCAT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAgtcgtcgtccatAGATCGAGACCCGACGC chr19:3958176-Variant-C;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Variant C gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga CAGATACTTACG CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgCaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAcagatacttacgAGATCGAGACCCGACGC chr19:3958176-Variant-C;Patient-68 chr19:3958176-TC Inherited Patient-68 intergenic 0.000543 0.00205 -0.31 0.33 -4.08 PIAS4 49467 Alternative A gtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccaga GAGTCACGGCTT CGACGCGGTCTCTCTCTgtggctccagacggggcaggggctcccacgtgggacacagcagcatcccgAaaggcgcaaagggacaggaaacgcttctgatccacctcagctgcccagaAGAGGGAGACGGACGTCTCAATAAgagtcacggcttAGATCGAGACCCGACGC chr19:3958176-Alternative-A;Patient-68 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Reference A tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CGAGTTGACAGG CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAcgagttgacaggAGATCGAGACCCGACGC chr19:39710220-Reference-A;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Reference A tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGGCTAATCGTT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAaggctaatcgttAGATCGAGACCCGACGC chr19:39710220-Reference-A;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Reference A tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGTTCGTACCGC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAagttcgtaccgcAGATCGAGACCCGACGC chr19:39710220-Reference-A;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative C tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga GGAAGACCATAC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAggaagaccatacAGATCGAGACCCGACGC chr19:39710220-Alternative-C;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative T tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga ACTACGGACGCT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAactacggacgctAGATCGAGACCCGACGC chr19:39710220-Alternative-T;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative C tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga ACTATAGCGTAC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAactatagcgtacAGATCGAGACCCGACGC chr19:39710220-Alternative-C;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Reference A tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CTGAATGGCCGT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAActgaatggccgtAGATCGAGACCCGACGC chr19:39710220-Reference-A;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative C tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGCGTTCTGACG CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAagcgttctgacgAGATCGAGACCCGACGC chr19:39710220-Alternative-C;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative C tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga GGTGGTACACAG CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAggtggtacacagAGATCGAGACCCGACGC chr19:39710220-Alternative-C;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative C tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CAACGTACCAAT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcCgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAcaacgtaccaatAGATCGAGACCCGACGC chr19:39710220-Alternative-C;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Reference A tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CAAGCGTTACTA CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcAgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAcaagcgttactaAGATCGAGACCCGACGC chr19:39710220-Reference-A;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative T tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga GGATAGGTTCGG CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAggataggttcggAGATCGAGACCCGACGC chr19:39710220-Alternative-T;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative T tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CACGATAGTATC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAcacgatagtatcAGATCGAGACCCGACGC chr19:39710220-Alternative-T;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative T tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGTAGCGCGAGT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAagtagcgcgagtAGATCGAGACCCGACGC chr19:39710220-Alternative-T;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Variant G tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga GTAACAAGGTAC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAgtaacaaggtacAGATCGAGACCCGACGC chr19:39710220-Variant-G;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Variant G tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGCTTCGTGGAC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAagcttcgtggacAGATCGAGACCCGACGC chr19:39710220-Variant-G;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Variant G tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga ACGGTATCCATA CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAacggtatccataAGATCGAGACCCGACGC chr19:39710220-Variant-G;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Variant G tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga AGCCTGCGATAC CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAagcctgcgatacAGATCGAGACCCGACGC chr19:39710220-Variant-G;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Variant G tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga ATTGGCGTTGAT CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcGgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAattggcgttgatAGATCGAGACCCGACGC chr19:39710220-Variant-G;Patient-76 chr19:39710220-AG DeNovo Patient-76 intergenic 3.2e-05 0.000513 0.26 6.64 0 PAK4 93799 Alternative T tcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgaga CGGAACACAATA CGACGCGGTCTCTCTCTtcaggacactgaggcatgagagttgcttgaacccaggaggtggaggctgcTgtgagctgagaatgtgccactgcactgtagcctgtgcaacagaatgagaAGAGGGAGACGGACGTCTCAATAAcggaacacaataAGATCGAGACCCGACGC chr19:39710220-Alternative-T;Patient-76 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Reference C aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GATGTTCTACGA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgatgttctacgaAGATCGAGACCCGACGC chr19:39715726-Reference-C;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Variant A aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GTACCGGACCTT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgtaccggaccttAGATCGAGACCCGACGC chr19:39715726-Variant-A;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Variant A aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GATGGCTTGTGC CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgatggcttgtgcAGATCGAGACCCGACGC chr19:39715726-Variant-A;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Variant A aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ATCGTGGTCACG CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAatcgtggtcacgAGATCGAGACCCGACGC chr19:39715726-Variant-A;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Reference C aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ATCGGTGCGCTT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAatcggtgcgcttAGATCGAGACCCGACGC chr19:39715726-Reference-C;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Variant A aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CGTTAATACGCA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAcgttaatacgcaAGATCGAGACCCGACGC chr19:39715726-Variant-A;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Reference C aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CGACTAGATAAG CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAcgactagataagAGATCGAGACCCGACGC chr19:39715726-Reference-C;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Variant A aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CGTTGCACACCT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcAacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAcgttgcacacctAGATCGAGACCCGACGC chr19:39715726-Variant-A;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative G aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ACAGCTGTACTA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAacagctgtactaAGATCGAGACCCGACGC chr19:39715726-Alternative-G;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative G aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc AACCATGACCTA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAaaccatgacctaAGATCGAGACCCGACGC chr19:39715726-Alternative-G;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative T aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CAGCTAAGCCGT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAcagctaagccgtAGATCGAGACCCGACGC chr19:39715726-Alternative-T;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative G aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CTCGGTCGTGTT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAActcggtcgtgttAGATCGAGACCCGACGC chr19:39715726-Alternative-G;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Reference C aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GTCGCCTGATGA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgtcgcctgatgaAGATCGAGACCCGACGC chr19:39715726-Reference-C;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative G aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GTCGGACCGTTA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgtcggaccgttaAGATCGAGACCCGACGC chr19:39715726-Alternative-G;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative T aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CACGTTAGCGGT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAcacgttagcggtAGATCGAGACCCGACGC chr19:39715726-Alternative-T;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative G aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ACTCTTGAACCT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcGacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAactcttgaacctAGATCGAGACCCGACGC chr19:39715726-Alternative-G;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Reference C aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc CTCTGGTACATA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcCacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAActctggtacataAGATCGAGACCCGACGC chr19:39715726-Reference-C;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative T aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ACGTTGCGAATA CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAacgttgcgaataAGATCGAGACCCGACGC chr19:39715726-Alternative-T;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative T aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc GATAACAGAGCG CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAgataacagagcgAGATCGAGACCCGACGC chr19:39715726-Alternative-T;Patient-61 chr19:39715726-CA Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.11 1.28 -0.38 PAK4 99305 Alternative T aagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatccc ACACGCTGGTCT CGACGCGGTCTCTCTCTaagccagagtgaaactttgaagagacaagtgtttgaagaagtggtgttgcTacaagagggggcagttgaaagagcctggtgcccccagatgattcatcccAGAGGGAGACGGACGTCTCAATAAacacgctggtctAGATCGAGACCCGACGC chr19:39715726-Alternative-T;Patient-61 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative A cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CAAGAGCAAGTT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcaagagcaagttAGATCGAGACCCGACGC chr19:4032743-Alternative-A;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Reference C cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CAGTCGCGTACT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcagtcgcgtactAGATCGAGACCCGACGC chr19:4032743-Reference-C;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Reference C cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca AGCGGTAGGTAC CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAagcggtaggtacAGATCGAGACCCGACGC chr19:4032743-Reference-C;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Reference C cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CGGAATCTCTTA CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcggaatctcttaAGATCGAGACCCGACGC chr19:4032743-Reference-C;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Reference C cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CGACAATGGACG CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcgacaatggacgAGATCGAGACCCGACGC chr19:4032743-Reference-C;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Reference C cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CTAAGAGTGCGC CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttCggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAActaagagtgcgcAGATCGAGACCCGACGC chr19:4032743-Reference-C;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative G cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca AGATCAAGACGG CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAagatcaagacggAGATCGAGACCCGACGC chr19:4032743-Alternative-G;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative G cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CTACACGGTGGT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAActacacggtggtAGATCGAGACCCGACGC chr19:4032743-Alternative-G;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative G cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca GTCGATGCCGTT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAgtcgatgccgttAGATCGAGACCCGACGC chr19:4032743-Alternative-G;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative G cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CAGGTAGATTGT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcaggtagattgtAGATCGAGACCCGACGC chr19:4032743-Alternative-G;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative G cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca ACTATAAGGACG CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttGggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAactataaggacgAGATCGAGACCCGACGC chr19:4032743-Alternative-G;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative A cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CAACGTCGAGTT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAcaacgtcgagttAGATCGAGACCCGACGC chr19:4032743-Alternative-A;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Variant T cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca CTATCCGATGTT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAActatccgatgttAGATCGAGACCCGACGC chr19:4032743-Variant-T;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Variant T cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca GAATAACGCATC CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAgaataacgcatcAGATCGAGACCCGACGC chr19:4032743-Variant-T;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative A cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca GATACGCCTCTT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAgatacgcctcttAGATCGAGACCCGACGC chr19:4032743-Alternative-A;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative A cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca AACGGTGCGCTA CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAaacggtgcgctaAGATCGAGACCCGACGC chr19:4032743-Alternative-A;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Variant T cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca AACACATTGTCG CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAaacacattgtcgAGATCGAGACCCGACGC chr19:4032743-Variant-T;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Variant T cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca GGTACCTCGAGT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAggtacctcgagtAGATCGAGACCCGACGC chr19:4032743-Variant-T;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Alternative A cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca GAGCCTTAAGAA CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttAggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAgagccttaagaaAGATCGAGACCCGACGC chr19:4032743-Alternative-A;Patient-49 chr19:4032743-CT Inherited Patient-49 intronic PIAS4 0.000925 0.000396 -0.41 0.17 -2.06 PIAS4 25098 Variant T cccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgca AGTCATTGGTGT CGACGCGGTCTCTCTCTcccaaagagtccctgcctcattccccgctgtggccttggggatggtgcttTggtgacagaatgaagtcacagcaatgactctttcggtggctgtgttgcaAGAGGGAGACGGACGTCTCAATAAagtcattggtgtAGATCGAGACCCGACGC chr19:4032743-Variant-T;Patient-49 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative C taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GTGCGCTTATAA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgtgcgcttataaAGATCGAGACCCGACGC chr19:40450540-Alternative-C;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Variant A taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca ATTCGGCTACAT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAattcggctacatAGATCGAGACCCGACGC chr19:40450540-Variant-A;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative C taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GAGTCACTAGAA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgagtcactagaaAGATCGAGACCCGACGC chr19:40450540-Alternative-C;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Reference G taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AGCGGCGTACTT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAagcggcgtacttAGATCGAGACCCGACGC chr19:40450540-Reference-G;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Variant A taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AAGTCGATATGG CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAaagtcgatatggAGATCGAGACCCGACGC chr19:40450540-Variant-A;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Reference G taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AACGCTAACATC CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAaacgctaacatcAGATCGAGACCCGACGC chr19:40450540-Reference-G;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative T taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AGCTACCGACTT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAagctaccgacttAGATCGAGACCCGACGC chr19:40450540-Alternative-T;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative C taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca ATAGACGCGCAG CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAatagacgcgcagAGATCGAGACCCGACGC chr19:40450540-Alternative-C;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Reference G taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GATTGCTCCAAC CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgattgctccaacAGATCGAGACCCGACGC chr19:40450540-Reference-G;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative C taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca ATATAGGCGAGT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAatataggcgagtAGATCGAGACCCGACGC chr19:40450540-Alternative-C;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Reference G taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca CAGTAAGCCGCT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAcagtaagccgctAGATCGAGACCCGACGC chr19:40450540-Reference-G;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Variant A taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GTGCCGCGAATA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgtgccgcgaataAGATCGAGACCCGACGC chr19:40450540-Variant-A;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative C taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AGGAGAACGAGA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcCgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAaggagaacgagaAGATCGAGACCCGACGC chr19:40450540-Alternative-C;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Variant A taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca ACCGGATCTCGT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAaccggatctcgtAGATCGAGACCCGACGC chr19:40450540-Variant-A;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Variant A taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca AATAGCGTCAGA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcAgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAaatagcgtcagaAGATCGAGACCCGACGC chr19:40450540-Variant-A;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative T taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GATGCGGCTGTT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgatgcggctgttAGATCGAGACCCGACGC chr19:40450540-Alternative-T;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative T taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GGTCAAGACGGT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAggtcaagacggtAGATCGAGACCCGACGC chr19:40450540-Alternative-T;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Reference G taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca GCGGTAGACGAA CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcGgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAgcggtagacgaaAGATCGAGACCCGACGC chr19:40450540-Reference-G;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative T taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca CAGCGTGTCTAC CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAcagcgtgtctacAGATCGAGACCCGACGC chr19:40450540-Alternative-T;Patient-75 chr19:40450540-GA DeNovo Patient-75 intergenic 0.000223 0.000513 0.06 3.62 0.16 PSMC4 26371 Alternative T taaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatca CAGTCGTGCGAT CGACGCGGTCTCTCTCTtaaaaggaagaggttacagtgagatagaaggtacagtggctgggcgcggcTgctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaAGAGGGAGACGGACGTCTCAATAAcagtcgtgcgatAGATCGAGACCCGACGC chr19:40450540-Alternative-T;Patient-75 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Variant T cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccag GACATTATGCAC CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgacattatgcacAGATCGAGACCCGACGC chr19:4067987-Variant-T;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative A cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccag GTCGATGTTCTT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgtcgatgttcttAGATCGAGACCCGACGC chr19:4067987-Alternative-A;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Variant T cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccag GCAACACGCAAT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgcaacacgcaatAGATCGAGACCCGACGC chr19:4067987-Variant-T;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Reference G cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccag GACGTAACTTGA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgacgtaacttgaAGATCGAGACCCGACGC chr19:4067987-Reference-G;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Variant T cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccag CAGACGCTTCCT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAcagacgcttcctAGATCGAGACCCGACGC chr19:4067987-Variant-T;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Reference G cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccag ACACCTTATTGC CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAacaccttattgcAGATCGAGACCCGACGC chr19:4067987-Reference-G;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Variant T cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccag ATCTAGGATAGG CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAatctaggataggAGATCGAGACCCGACGC chr19:4067987-Variant-T;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Variant T cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccag AAGTTATCGTCG CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggTgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAaagttatcgtcgAGATCGAGACCCGACGC chr19:4067987-Variant-T;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative A cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccag CGACCAAGAGAT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAcgaccaagagatAGATCGAGACCCGACGC chr19:4067987-Alternative-A;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative A cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccag CTGTGTCTGGCA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAActgtgtctggcaAGATCGAGACCCGACGC chr19:4067987-Alternative-A;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative A cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccag GTTCGACTCCGT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgttcgactccgtAGATCGAGACCCGACGC chr19:4067987-Alternative-A;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative C cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccag GATCATTCAGCA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgatcattcagcaAGATCGAGACCCGACGC chr19:4067987-Alternative-C;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative A cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccag GAGTACCAGAAG CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggAgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgagtaccagaagAGATCGAGACCCGACGC chr19:4067987-Alternative-A;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Reference G cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccag GTCGCGTGGTTA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgtcgcgtggttaAGATCGAGACCCGACGC chr19:4067987-Reference-G;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative C cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccag GCGGCTACGTAA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgcggctacgtaaAGATCGAGACCCGACGC chr19:4067987-Alternative-C;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative C cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccag CGAGTCCTTCGA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAcgagtccttcgaAGATCGAGACCCGACGC chr19:4067987-Alternative-C;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative C cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccag GTAGTAACAACG CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgtagtaacaacgAGATCGAGACCCGACGC chr19:4067987-Alternative-C;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Alternative C cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccag GTACGCCTTCTA CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggCgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgtacgccttctaAGATCGAGACCCGACGC chr19:4067987-Alternative-C;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Reference G cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccag GTTCGAAGAGTT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgttcgaagagttAGATCGAGACCCGACGC chr19:4067987-Reference-G;Patient-25 chr19:4067987-GT Inherited Patient-25 intergenic NA 0.000513 0.35 7.84 0.05 MAP2K2 56138 Reference G cgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccag GACGCACCTCAT CGACGCGGTCTCTCTCTcgtcctggcccggcccggggagggctggctggtgcgaccgcgcgcctgggGgggggggggagggctccaggactcagtttccccttcctcattcctccagAGAGGGAGACGGACGTCTCAATAAgacgcacctcatAGATCGAGACCCGACGC chr19:4067987-Reference-G;Patient-25 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative T tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg CGTCTTGTGCGT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAcgtcttgtgcgtAGATCGAGACCCGACGC chr19:40764469-Alternative-T;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative C tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg AGCGTAACATGA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAagcgtaacatgaAGATCGAGACCCGACGC chr19:40764469-Alternative-C;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative T tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg ATTCGGTCTGAA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAattcggtctgaaAGATCGAGACCCGACGC chr19:40764469-Alternative-T;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Reference A tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg CTATCCTAGGTT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAActatcctaggttAGATCGAGACCCGACGC chr19:40764469-Reference-A;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative C tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg ACGACACGATGG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAacgacacgatggAGATCGAGACCCGACGC chr19:40764469-Alternative-C;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Reference A tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg ACCTTGCGATCG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAaccttgcgatcgAGATCGAGACCCGACGC chr19:40764469-Reference-A;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Reference A tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GACCTGTTAGCG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAgacctgttagcgAGATCGAGACCCGACGC chr19:40764469-Reference-A;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Reference A tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg ACCACATCACAT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAaccacatcacatAGATCGAGACCCGACGC chr19:40764469-Reference-A;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative C tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg ACGAGAAGATGA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAacgagaagatgaAGATCGAGACCCGACGC chr19:40764469-Alternative-C;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Reference A tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GGTAGTTCGTCG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggAggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAggtagttcgtcgAGATCGAGACCCGACGC chr19:40764469-Reference-A;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative C tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg CAGTTGCCTAAC CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAcagttgcctaacAGATCGAGACCCGACGC chr19:40764469-Alternative-C;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Variant G tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg CAGCGAGCTGTT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAcagcgagctgttAGATCGAGACCCGACGC chr19:40764469-Variant-G;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative C tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GTGTCTCTTGAT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggCggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAgtgtctcttgatAGATCGAGACCCGACGC chr19:40764469-Alternative-C;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative T tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg CGAGTAGTATGA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAcgagtagtatgaAGATCGAGACCCGACGC chr19:40764469-Alternative-T;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Variant G tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg AAGCAACGAACG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAaagcaacgaacgAGATCGAGACCCGACGC chr19:40764469-Variant-G;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Variant G tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GGTCTGACATAA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAggtctgacataaAGATCGAGACCCGACGC chr19:40764469-Variant-G;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative T tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GCCTTCGATTCA CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAgccttcgattcaAGATCGAGACCCGACGC chr19:40764469-Alternative-T;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Variant G tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg GGTAACGTTGTT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAggtaacgttgttAGATCGAGACCCGACGC chr19:40764469-Variant-G;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Variant G tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg AGCCGCGTCATT CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggGggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAagccgcgtcattAGATCGAGACCCGACGC chr19:40764469-Variant-G;Patient-62 chr19:40764469-AG DeNovo Patient-62 intronic AKT2 0.00032 4.95e-05 0.19 5.64 0 AKT2 26832 Alternative T tttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatgg AAGCGCTAACCG CGACGCGGTCTCTCTCTtttaattagccaggagtcgttgcgtgtgcctgaagtcccagctactcaggTggccgaaatggcagaatcacctgagctcaagaaattgaagctatgatggAGAGGGAGACGGACGTCTCAATAAaagcgctaaccgAGATCGAGACCCGACGC chr19:40764469-Alternative-T;Patient-62 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative T cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagc ACGTACCGGTTC CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAacgtaccggttcAGATCGAGACCCGACGC chr19:40767964-Alternative-T;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Reference G cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagc ACGACTGATTGA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAacgactgattgaAGATCGAGACCCGACGC chr19:40767964-Reference-G;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Variant A cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGAACGAATCAA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcgaacgaatcaaAGATCGAGACCCGACGC chr19:40767964-Variant-A;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Variant A cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagc GATATGCCACTA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAgatatgccactaAGATCGAGACCCGACGC chr19:40767964-Variant-A;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative T cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CTGCGAAGGCAA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAActgcgaaggcaaAGATCGAGACCCGACGC chr19:40767964-Alternative-T;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative T cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CATCGCAGATAT CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcatcgcagatatAGATCGAGACCCGACGC chr19:40767964-Alternative-T;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Reference G cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagc ACGGTGTATCAT CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAacggtgtatcatAGATCGAGACCCGACGC chr19:40767964-Reference-G;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Reference G cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagc GAGATACGCGCA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAgagatacgcgcaAGATCGAGACCCGACGC chr19:40767964-Reference-G;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Reference G cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagc GGAGAATATTCG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAggagaatattcgAGATCGAGACCCGACGC chr19:40767964-Reference-G;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative T cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagc ATCGGTATAGTC CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAatcggtatagtcAGATCGAGACCCGACGC chr19:40767964-Alternative-T;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative C cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagc AACTCGGCAATA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAaactcggcaataAGATCGAGACCCGACGC chr19:40767964-Alternative-C;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Variant A cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGAGCGCGATAT CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcgagcgcgatatAGATCGAGACCCGACGC chr19:40767964-Variant-A;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative C cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGGATCTCGGAT CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcggatctcggatAGATCGAGACCCGACGC chr19:40767964-Alternative-C;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative T cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGATCAATGGAT CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaTtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcgatcaatggatAGATCGAGACCCGACGC chr19:40767964-Alternative-T;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Reference G cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CAGTAGTACACG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaGtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcagtagtacacgAGATCGAGACCCGACGC chr19:40767964-Reference-G;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Variant A cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGAACGTTAACG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcgaacgttaacgAGATCGAGACCCGACGC chr19:40767964-Variant-A;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative C cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CGAACTGAGTGG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcgaactgagtggAGATCGAGACCCGACGC chr19:40767964-Alternative-C;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative C cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagc GATTGGTTGAGA CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAgattggttgagaAGATCGAGACCCGACGC chr19:40767964-Alternative-C;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Variant A cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagc CAGTTACTGCGG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaAtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAcagttactgcggAGATCGAGACCCGACGC chr19:40767964-Variant-A;Patient-39 chr19:40767964-GA DeNovo Patient-39 intronic AKT2 NA 4.95e-05 -0.16 0.94 -3.08 AKT2 23337 Alternative C cggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagc ATAGGATCTAGG CGACGCGGTCTCTCTCTcggggaccgtcttattctatttcttgaactgtacactgggattggggcgaCtttattatccaggcatttatctgtggcctttcatactttggtaacaagcAGAGGGAGACGGACGTCTCAATAAataggatctaggAGATCGAGACCCGACGC chr19:40767964-Alternative-C;Patient-39 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Variant C gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc CGGATTAGCGGT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAcggattagcggtAGATCGAGACCCGACGC chr19:40785729-Variant-C;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Variant C gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GTATATGAAGCG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgtatatgaagcgAGATCGAGACCCGACGC chr19:40785729-Variant-C;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Variant C gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc CTCAAGTTCGTT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAActcaagttcgttAGATCGAGACCCGACGC chr19:40785729-Variant-C;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative A gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GCAGTAACGCCT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgcagtaacgcctAGATCGAGACCCGACGC chr19:40785729-Alternative-A;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Variant C gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GACGGCAGATGT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgacggcagatgtAGATCGAGACCCGACGC chr19:40785729-Variant-C;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative A gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc CAAGGAAGACCG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAcaaggaagaccgAGATCGAGACCCGACGC chr19:40785729-Alternative-A;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Variant C gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GTATCAGTTGGT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaCcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgtatcagttggtAGATCGAGACCCGACGC chr19:40785729-Variant-C;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Reference G gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GGTTGTTCCAGG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAggttgttccaggAGATCGAGACCCGACGC chr19:40785729-Reference-G;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Reference G gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc AGTTATAACGCG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAagttataacgcgAGATCGAGACCCGACGC chr19:40785729-Reference-G;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative T gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GTGATAGCGACT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgtgatagcgactAGATCGAGACCCGACGC chr19:40785729-Alternative-T;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Reference G gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GATTACCTACAG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgattacctacagAGATCGAGACCCGACGC chr19:40785729-Reference-G;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Reference G gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GAGATGGAGCAT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgagatggagcatAGATCGAGACCCGACGC chr19:40785729-Reference-G;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative A gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc AAGCGCACATCG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAaagcgcacatcgAGATCGAGACCCGACGC chr19:40785729-Alternative-A;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative T gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GTTAGACGCAAT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgttagacgcaatAGATCGAGACCCGACGC chr19:40785729-Alternative-T;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative T gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GGTCATGTCCAT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAggtcatgtccatAGATCGAGACCCGACGC chr19:40785729-Alternative-T;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative A gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc AGGCGTAACCAC CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAaggcgtaaccacAGATCGAGACCCGACGC chr19:40785729-Alternative-A;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative T gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GATGTTGATGAG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgatgttgatgagAGATCGAGACCCGACGC chr19:40785729-Alternative-T;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Reference G gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GTTCGCTGCAAG CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaGcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgttcgctgcaagAGATCGAGACCCGACGC chr19:40785729-Reference-G;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative T gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GCAGTTAGCCGT CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaTcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgcagttagccgtAGATCGAGACCCGACGC chr19:40785729-Alternative-T;Patient-37 chr19:40785729-GC Inherited Patient-37 intronic AKT2 NA 0.00016 0.11 4.36 1.09 AKT2 5572 Alternative A gaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagc GCATACGCAACC CGACGCGGTCTCTCTCTgaagcccagattcatagcctgtccccaacacttcctggttgggggactcaAcacaagctacagaggctctccaggcttcagttctcaccacttgtaaagcAGAGGGAGACGGACGTCTCAATAAgcatacgcaaccAGATCGAGACCCGACGC chr19:40785729-Alternative-A;Patient-37 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative T gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctg ACACCGATTCGC CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAacaccgattcgcAGATCGAGACCCGACGC chr19:40937427-Alternative-T;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative G gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctg CATGACTGCCAA CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAcatgactgccaaAGATCGAGACCCGACGC chr19:40937427-Alternative-G;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative T gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctg GAGTCATTACAC CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgagtcattacacAGATCGAGACCCGACGC chr19:40937427-Alternative-T;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative T gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctg GCACCAACGAAT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgcaccaacgaatAGATCGAGACCCGACGC chr19:40937427-Alternative-T;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Reference C gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctg CTCGCCTAGTCT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAActcgcctagtctAGATCGAGACCCGACGC chr19:40937427-Reference-C;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative T gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctg GTCATACGAACG CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgtcatacgaacgAGATCGAGACCCGACGC chr19:40937427-Alternative-T;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative T gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctg ACAGGATTGACT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccTactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAacaggattgactAGATCGAGACCCGACGC chr19:40937427-Alternative-T;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Variant A gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctg CACAACGACGAG CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAcacaacgacgagAGATCGAGACCCGACGC chr19:40937427-Variant-A;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Reference C gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctg ACTAGGTGACTT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAactaggtgacttAGATCGAGACCCGACGC chr19:40937427-Reference-C;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Variant A gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctg CGTCCGCGTATT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAcgtccgcgtattAGATCGAGACCCGACGC chr19:40937427-Variant-A;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative G gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctg CGTAGTGGAACG CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAcgtagtggaacgAGATCGAGACCCGACGC chr19:40937427-Alternative-G;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Variant A gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctg GTACCGCGTAAC CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgtaccgcgtaacAGATCGAGACCCGACGC chr19:40937427-Variant-A;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative G gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctg GGTTCGAATAAC CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAggttcgaataacAGATCGAGACCCGACGC chr19:40937427-Alternative-G;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Reference C gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctg GGTTAACAAGGT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAggttaacaaggtAGATCGAGACCCGACGC chr19:40937427-Reference-C;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative G gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctg GCGTAGTTGCGT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgcgtagttgcgtAGATCGAGACCCGACGC chr19:40937427-Alternative-G;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Reference C gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctg GGTACGTAGTGG CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAggtacgtagtggAGATCGAGACCCGACGC chr19:40937427-Reference-C;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Variant A gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctg GTAGTCAGATCA CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgtagtcagatcaAGATCGAGACCCGACGC chr19:40937427-Variant-A;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Reference C gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctg AACCGTAGCACG CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccCactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAaaccgtagcacgAGATCGAGACCCGACGC chr19:40937427-Reference-C;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Alternative G gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctg GTTACCGTACTT CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccGactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAAgttaccgtacttAGATCGAGACCCGACGC chr19:40937427-Alternative-G;Patient-85 chr19:40937427-CA DeNovo Patient-85 intergenic NA 0.000513 -0.24 0.55 -1.01 BLVRB 34297 Variant A gaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctg CTCTACGGCATC CGACGCGGTCTCTCTCTgaatttttaataataaaattaaggtaagatgctaattagaaccaggccccAactaggcaaattcacattttctgccctccagaatccatttttatggctgAGAGGGAGACGGACGTCTCAATAActctacggcatcAGATCGAGACCCGACGC chr19:40937427-Variant-A;Patient-85 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Variant C tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CTCGCTTATTGA CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAActcgcttattgaAGATCGAGACCCGACGC chr19:4098410-Variant-C;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Reference T tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca GTAACTCTTAGG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAgtaactcttaggAGATCGAGACCCGACGC chr19:4098410-Reference-T;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Reference T tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca ACGAGTGGCGTT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAacgagtggcgttAGATCGAGACCCGACGC chr19:4098410-Reference-T;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative A tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CACATAGCGCAT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAcacatagcgcatAGATCGAGACCCGACGC chr19:4098410-Alternative-A;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Reference T tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca GTCATGACCTGG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAgtcatgacctggAGATCGAGACCCGACGC chr19:4098410-Reference-T;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative G tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CATGAGGTCGCA CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAcatgaggtcgcaAGATCGAGACCCGACGC chr19:4098410-Alternative-G;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative G tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca ATATGGCGGTAA CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAatatggcggtaaAGATCGAGACCCGACGC chr19:4098410-Alternative-G;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Reference T tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CGCGATATGTGA CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAcgcgatatgtgaAGATCGAGACCCGACGC chr19:4098410-Reference-T;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Reference T tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca ATAGAGTGTTCG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgTgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAatagagtgttcgAGATCGAGACCCGACGC chr19:4098410-Reference-T;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative G tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CAGCGACGTATC CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAcagcgacgtatcAGATCGAGACCCGACGC chr19:4098410-Alternative-G;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Variant C tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca GGACCGTGACTT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAggaccgtgacttAGATCGAGACCCGACGC chr19:4098410-Variant-C;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Variant C tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca AAGCGTCCAACC CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAaagcgtccaaccAGATCGAGACCCGACGC chr19:4098410-Variant-C;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative G tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca CATTATCAACGG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAcattatcaacggAGATCGAGACCCGACGC chr19:4098410-Alternative-G;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative G tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca GCGAAGTTCCGT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgGgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAgcgaagttccgtAGATCGAGACCCGACGC chr19:4098410-Alternative-G;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative A tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca AGAGTAATCACG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAagagtaatcacgAGATCGAGACCCGACGC chr19:4098410-Alternative-A;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative A tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca AACTCACATCAG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAaactcacatcagAGATCGAGACCCGACGC chr19:4098410-Alternative-A;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative A tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca GACGTCACTAAT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAgacgtcactaatAGATCGAGACCCGACGC chr19:4098410-Alternative-A;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Variant C tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca AGGTTATCGCTA CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAaggttatcgctaAGATCGAGACCCGACGC chr19:4098410-Variant-C;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Variant C tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca ACGCATCACGAT CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgCgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAacgcatcacgatAGATCGAGACCCGACGC chr19:4098410-Variant-C;Patient-65 chr19:4098410-TC Inherited Patient-65 intronic MAP2K2 NA 4.95e-05 -0.62 0.04 -3.91 MAP2K2 25715 Alternative A tgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctaca ACTTCGCTTCGG CGACGCGGTCTCTCTCTtgtgactgaaaaccactgaactgctcacctgaaatgagttgtggggtgtgAgctttgtagttcggaaacatggttttaaaaccaaccacagtccgctacaAGAGGGAGACGGACGTCTCAATAAacttcgcttcggAGATCGAGACCCGACGC chr19:4098410-Alternative-A;Patient-65 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Reference T agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CAACGTACCTAC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcaacgtacctacAGATCGAGACCCGACGC chr19:41389487-Reference-T;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Variant C agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ATCATCGAGGCG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAatcatcgaggcgAGATCGAGACCCGACGC chr19:41389487-Variant-C;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Variant C agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ACAAGCTGTGAA CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAacaagctgtgaaAGATCGAGACCCGACGC chr19:41389487-Variant-C;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Variant C agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGGCGGTAGATT CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcggcggtagattAGATCGAGACCCGACGC chr19:41389487-Variant-C;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative A agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ACTGGTCGGTCT CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAactggtcggtctAGATCGAGACCCGACGC chr19:41389487-Alternative-A;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Variant C agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg GCAGCTATGTCG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAgcagctatgtcgAGATCGAGACCCGACGC chr19:41389487-Variant-C;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Reference T agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ACTTCACGTAGG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAacttcacgtaggAGATCGAGACCCGACGC chr19:41389487-Reference-T;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Variant C agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGCTCTAACGTC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagCtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcgctctaacgtcAGATCGAGACCCGACGC chr19:41389487-Variant-C;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative A agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ACACGAATATGG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAacacgaatatggAGATCGAGACCCGACGC chr19:41389487-Alternative-A;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative G agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ATTGACTGAACG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAattgactgaacgAGATCGAGACCCGACGC chr19:41389487-Alternative-G;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative A agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CTGGTCAACTGA CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAActggtcaactgaAGATCGAGACCCGACGC chr19:41389487-Alternative-A;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Reference T agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGTACTGACTAA CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcgtactgactaaAGATCGAGACCCGACGC chr19:41389487-Reference-T;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Reference T agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGATGCAATCAG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcgatgcaatcagAGATCGAGACCCGACGC chr19:41389487-Reference-T;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative G agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CTGTGTTACCGC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAActgtgttaccgcAGATCGAGACCCGACGC chr19:41389487-Alternative-G;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative A agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGCTCGTTGAGT CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcgctcgttgagtAGATCGAGACCCGACGC chr19:41389487-Alternative-A;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative A agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg GACCTGTTCGTC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagAtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAgacctgttcgtcAGATCGAGACCCGACGC chr19:41389487-Alternative-A;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Reference T agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CGTTCGTGTTCG CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagTtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcgttcgtgttcgAGATCGAGACCCGACGC chr19:41389487-Reference-T;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative G agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg CAACATGTGAAC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAcaacatgtgaacAGATCGAGACCCGACGC chr19:41389487-Alternative-G;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative G agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg GATAGTGAGGAC CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAgatagtgaggacAGATCGAGACCCGACGC chr19:41389487-Alternative-G;Patient-21 chr19:41389487-TC Inherited Patient-21 intergenic NA 0.000512821 0.13 4.68 -1 EGLN2 84438 Alternative G agccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtg ATTACCGGACAT CGACGCGGTCTCTCTCTagccctcctgtccttccttcagggaaattcttccttagtaaacaggacagGtaccctttggtgagcatggtcatatatgggaagattaagtctaggtgtgAGAGGGAGACGGACGTCTCAATAAattaccggacatAGATCGAGACCCGACGC chr19:41389487-Alternative-G;Patient-21 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Reference C ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa ACCTGTACTGCG CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAacctgtactgcgAGATCGAGACCCGACGC chr19:4161605-Reference-C;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Reference C ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GCATAGATCACG CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgcatagatcacgAGATCGAGACCCGACGC chr19:4161605-Reference-C;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Reference C ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GAGCAACAACGA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgagcaacaacgaAGATCGAGACCCGACGC chr19:4161605-Reference-C;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Reference C ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GTCTCTGCTACG CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgtctctgctacgAGATCGAGACCCGACGC chr19:4161605-Reference-C;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative G ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa AATACGGTGAAC CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAaatacggtgaacAGATCGAGACCCGACGC chr19:4161605-Alternative-G;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative G ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa AGGCTTCTGTAA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAaggcttctgtaaAGATCGAGACCCGACGC chr19:4161605-Alternative-G;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Reference C ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa CGTCGAGATTGC CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacCcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAcgtcgagattgcAGATCGAGACCCGACGC chr19:4161605-Reference-C;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative G ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GTCGACGGTTCA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgtcgacggttcaAGATCGAGACCCGACGC chr19:4161605-Alternative-G;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Variant A ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GCATACTGGACG CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgcatactggacgAGATCGAGACCCGACGC chr19:4161605-Variant-A;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative T ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa AGGACCTACAAC CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAaggacctacaacAGATCGAGACCCGACGC chr19:4161605-Alternative-T;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative G ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GCCGATATGTAA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgccgatatgtaaAGATCGAGACCCGACGC chr19:4161605-Alternative-G;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative T ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa ATCATCCGTCAA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAatcatccgtcaaAGATCGAGACCCGACGC chr19:4161605-Alternative-T;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative T ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa AACGTAGCCACT CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAaacgtagccactAGATCGAGACCCGACGC chr19:4161605-Alternative-T;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative T ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GGAATGCGATGC CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAggaatgcgatgcAGATCGAGACCCGACGC chr19:4161605-Alternative-T;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative G ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GCAGTCAGACGA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacGcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgcagtcagacgaAGATCGAGACCCGACGC chr19:4161605-Alternative-G;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Variant A ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa CTCATCACCATA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAActcatcaccataAGATCGAGACCCGACGC chr19:4161605-Variant-A;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Alternative T ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa CATAGCATGTCA CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacTcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAcatagcatgtcaAGATCGAGACCCGACGC chr19:4161605-Alternative-T;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Variant A ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa CGTCCAAGACGT CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAcgtccaagacgtAGATCGAGACCCGACGC chr19:4161605-Variant-A;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Variant A ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa CGGACGTTGTTC CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAcggacgttgttcAGATCGAGACCCGACGC chr19:4161605-Variant-A;Patient-91 chr19:4161605-CA Inherited Patient-91 intronic CREB3L3 0.000144 4.95e-05 0.05 3.42 -1.32 CREB3L3 8006 Variant A ccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaa GATTCTATCGGT CGACGCGGTCTCTCTCTccatctaccctgccaagggcttcacgctcccataagccaggtttgacaacAcaaacccattttgcagatgagaaggtaggtcaaggcccagagaggttaaAGAGGGAGACGGACGTCTCAATAAgattctatcggtAGATCGAGACCCGACGC chr19:4161605-Variant-A;Patient-91 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative G gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CTGGTACACACG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAActggtacacacgAGATCGAGACCCGACGC chr19:41901552-Alternative-G;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative G gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct AATACGCGACTT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaatacgcgacttAGATCGAGACCCGACGC chr19:41901552-Alternative-G;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Reference C gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CGTGTCGTATGG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAcgtgtcgtatggAGATCGAGACCCGACGC chr19:41901552-Reference-C;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Variant T gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct AGGCTACAAGCG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaggctacaagcgAGATCGAGACCCGACGC chr19:41901552-Variant-T;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative G gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GGCGAATTAGCT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAggcgaattagctAGATCGAGACCCGACGC chr19:41901552-Alternative-G;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative G gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CTCGCGTAGTCA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAActcgcgtagtcaAGATCGAGACCCGACGC chr19:41901552-Alternative-G;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative G gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct ACCGACAGCGAA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcGccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaccgacagcgaaAGATCGAGACCCGACGC chr19:41901552-Alternative-G;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Variant T gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GCAGTTCGTACG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAgcagttcgtacgAGATCGAGACCCGACGC chr19:41901552-Variant-T;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Variant T gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct AGATCGTGTGCG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAagatcgtgtgcgAGATCGAGACCCGACGC chr19:41901552-Variant-T;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Variant T gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GCGCCACATCAT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAgcgccacatcatAGATCGAGACCCGACGC chr19:41901552-Variant-T;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Reference C gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CTAAGTTGTGGT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAActaagttgtggtAGATCGAGACCCGACGC chr19:41901552-Reference-C;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Reference C gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct ACTAGCGCACAG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAactagcgcacagAGATCGAGACCCGACGC chr19:41901552-Reference-C;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Reference C gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CTCAAGGAGAAG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAActcaaggagaagAGATCGAGACCCGACGC chr19:41901552-Reference-C;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Variant T gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GTTGATTGAAGG CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcTccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAgttgattgaaggAGATCGAGACCCGACGC chr19:41901552-Variant-T;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative A gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GTAGCTCAAGCA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAgtagctcaagcaAGATCGAGACCCGACGC chr19:41901552-Alternative-A;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Reference C gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct AATCTGCGGTAT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcCccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaatctgcggtatAGATCGAGACCCGACGC chr19:41901552-Reference-C;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative A gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct AAGCGCTCCTAA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaagcgctcctaaAGATCGAGACCCGACGC chr19:41901552-Alternative-A;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative A gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct ACCAACGACTTA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAaccaacgacttaAGATCGAGACCCGACGC chr19:41901552-Alternative-A;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative A gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct CGACTTACGATA CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAcgacttacgataAGATCGAGACCCGACGC chr19:41901552-Alternative-A;Patient-79 chr19:41901552-CT DeNovo Patient-79 intronic EXOSC5 0.000159 4.95e-05 0.27 6.85 -1.44 EXOSC5 1703 Alternative A gctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcct GCAACCAGACTT CGACGCGGTCTCTCTCTgctgaaacagctggtcagccctcacatctcagacatgctcttttcttggcAccaggtcaccaccatctcctggtttccccctaactctctgggcgttcctAGAGGGAGACGGACGTCTCAATAAgcaaccagacttAGATCGAGACCCGACGC chr19:41901552-Alternative-A;Patient-79 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Reference C tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GGACGGAGACAT CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAggacggagacatAGATCGAGACCCGACGC chr19:42232830-Reference-C;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative G tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CAACTAGCGTGA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAcaactagcgtgaAGATCGAGACCCGACGC chr19:42232830-Alternative-G;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Reference C tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CTACGTGCGTCA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAActacgtgcgtcaAGATCGAGACCCGACGC chr19:42232830-Reference-C;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Reference C tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GGATACTTGGAA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAggatacttggaaAGATCGAGACCCGACGC chr19:42232830-Reference-C;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Reference C tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GGATCGACACAG CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAggatcgacacagAGATCGAGACCCGACGC chr19:42232830-Reference-C;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative G tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CGTTATGGCGCA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAcgttatggcgcaAGATCGAGACCCGACGC chr19:42232830-Alternative-G;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative G tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac ACCAATTATCGC CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAaccaattatcgcAGATCGAGACCCGACGC chr19:42232830-Alternative-G;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative A tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac ACTCAAGCAGAA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAactcaagcagaaAGATCGAGACCCGACGC chr19:42232830-Alternative-A;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative G tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac ATAGACACATCG CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAatagacacatcgAGATCGAGACCCGACGC chr19:42232830-Alternative-G;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Variant T tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GTCAAGCCACCA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAgtcaagccaccaAGATCGAGACCCGACGC chr19:42232830-Variant-T;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative G tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac ACCGACGTACAG CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagGtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAaccgacgtacagAGATCGAGACCCGACGC chr19:42232830-Alternative-G;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Variant T tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CTCTGGCGTAGT CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAActctggcgtagtAGATCGAGACCCGACGC chr19:42232830-Variant-T;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Reference C tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac ACGTTCGTCGCT CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagCtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAacgttcgtcgctAGATCGAGACCCGACGC chr19:42232830-Reference-C;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative A tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CTCATACCACCA CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAActcataccaccaAGATCGAGACCCGACGC chr19:42232830-Alternative-A;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative A tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac AAGACGAGAGAT CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAaagacgagagatAGATCGAGACCCGACGC chr19:42232830-Alternative-A;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Variant T tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CTCTAGTCGAAT CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAActctagtcgaatAGATCGAGACCCGACGC chr19:42232830-Variant-T;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Variant T tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CATGACTCCGTC CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAcatgactccgtcAGATCGAGACCCGACGC chr19:42232830-Variant-T;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative A tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac CGCGTCTATTGC CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAcgcgtctattgcAGATCGAGACCCGACGC chr19:42232830-Alternative-A;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Alternative A tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GTCTAGCTTGCG CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagAtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAgtctagcttgcgAGATCGAGACCCGACGC chr19:42232830-Alternative-A;Patient-81 chr19:42232830-CT DeNovo Patient-81 intronic CEACAM5 NA 0.000319 -0.4 0.19 -0.51 CEACAM5 20299 Variant T tcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcac GCATCGTTCAAG CGACGCGGTCTCTCTCTtcattaatgggctccaccaggaaattaggaatctagttgagaaacagaagTtgaatggaaaggccaccttatttgatatgttaaattatatgggaagcacAGAGGGAGACGGACGTCTCAATAAgcatcgttcaagAGATCGAGACCCGACGC chr19:42232830-Variant-T;Patient-81 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Variant G aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CTGCGTGGTAGT CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAActgcgtggtagtAGATCGAGACCCGACGC chr19:42452361-Variant-G;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Variant G aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CTATGTTCCAAC CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAActatgttccaacAGATCGAGACCCGACGC chr19:42452361-Variant-G;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Variant G aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctg AGGCACGAATCA CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAaggcacgaatcaAGATCGAGACCCGACGC chr19:42452361-Variant-G;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Variant G aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACTCGCACTAAG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAactcgcactaagAGATCGAGACCCGACGC chr19:42452361-Variant-G;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Reference T aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACTGCTTGACTT CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAactgcttgacttAGATCGAGACCCGACGC chr19:42452361-Reference-T;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Reference T aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CTACAAGACGCG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAActacaagacgcgAGATCGAGACCCGACGC chr19:42452361-Reference-T;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Variant G aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACGATAAGCAGT CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacGgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAacgataagcagtAGATCGAGACCCGACGC chr19:42452361-Variant-G;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative A aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CTGAAGGTCGAG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAActgaaggtcgagAGATCGAGACCCGACGC chr19:42452361-Alternative-A;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Reference T aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CTGTGTTCGGAG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAActgtgttcggagAGATCGAGACCCGACGC chr19:42452361-Reference-T;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Reference T aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctg GGCCATTAAGAA CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAggccattaagaaAGATCGAGACCCGACGC chr19:42452361-Reference-T;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative C aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACCTAACGCCAA CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAacctaacgccaaAGATCGAGACCCGACGC chr19:42452361-Alternative-C;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative A aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctg AGGTAGATCGGT CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAaggtagatcggtAGATCGAGACCCGACGC chr19:42452361-Alternative-A;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative A aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACGTACGTCTGG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAacgtacgtctggAGATCGAGACCCGACGC chr19:42452361-Alternative-A;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative C aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CGTCGAATCGAC CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAcgtcgaatcgacAGATCGAGACCCGACGC chr19:42452361-Alternative-C;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative A aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctg CGCGTGTGGTTA CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAcgcgtgtggttaAGATCGAGACCCGACGC chr19:42452361-Alternative-A;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative A aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctg GACCGATTAAGA CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacAgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAgaccgattaagaAGATCGAGACCCGACGC chr19:42452361-Alternative-A;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Reference T aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctg AGACGCTCCAGT CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacTgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAagacgctccagtAGATCGAGACCCGACGC chr19:42452361-Reference-T;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative C aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ATACCGGTAGCG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAataccggtagcgAGATCGAGACCCGACGC chr19:42452361-Alternative-C;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative C aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctg GGCTTCGAATCG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAggcttcgaatcgAGATCGAGACCCGACGC chr19:42452361-Alternative-C;Patient-87 chr19:42452361-TG DeNovo Patient-87 intergenic NA 0.000513 -0.16 0.93 0.59 RABAC1 11166 Alternative C aattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctg ACCTATGCTAAG CGACGCGGTCTCTCTCTaattaaattaaattaaattagcaagctagtctgtcacctcacaaatgtacCgggacaatgatctctgtataacaacctacacaaccagaccccatttctgAGAGGGAGACGGACGTCTCAATAAacctatgctaagAGATCGAGACCCGACGC chr19:42452361-Alternative-C;Patient-87 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Reference T ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc AGTCCGACTTAA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAagtccgacttaaAGATCGAGACCCGACGC chr19:45332708-Reference-T;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Reference T ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc ACTCGCCAATAA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAactcgccaataaAGATCGAGACCCGACGC chr19:45332708-Reference-T;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Variant C ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc GGCTTATTGCGG CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAggcttattgcggAGATCGAGACCCGACGC chr19:45332708-Variant-C;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Variant C ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CTTATTAGGTGG CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAActtattaggtggAGATCGAGACCCGACGC chr19:45332708-Variant-C;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative A ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CTGCTGCGAGAT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAActgctgcgagatAGATCGAGACCCGACGC chr19:45332708-Alternative-A;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Reference T ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CTCGTTAGGACG CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAActcgttaggacgAGATCGAGACCCGACGC chr19:45332708-Reference-T;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative A ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc ATCCGACGTCGA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAatccgacgtcgaAGATCGAGACCCGACGC chr19:45332708-Alternative-A;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Variant C ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc GGAACTCGTTCG CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAggaactcgttcgAGATCGAGACCCGACGC chr19:45332708-Variant-C;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Reference T ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc GCGAGTTAACGG CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAgcgagttaacggAGATCGAGACCCGACGC chr19:45332708-Reference-T;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative A ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc AACGTCACGCGA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAaacgtcacgcgaAGATCGAGACCCGACGC chr19:45332708-Alternative-A;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative A ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CGAGTCATCGGT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAcgagtcatcggtAGATCGAGACCCGACGC chr19:45332708-Alternative-A;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Variant C ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc ACTAGGTTACAC CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAactaggttacacAGATCGAGACCCGACGC chr19:45332708-Variant-C;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative A ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc GGTAGTCGTCCA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattActcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAggtagtcgtccaAGATCGAGACCCGACGC chr19:45332708-Alternative-A;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Variant C ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CAGCTCGTAACC CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattCctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAcagctcgtaaccAGATCGAGACCCGACGC chr19:45332708-Variant-C;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Reference T ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc ACGCCAACACGA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattTctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAacgccaacacgaAGATCGAGACCCGACGC chr19:45332708-Reference-T;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative G ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc AACGTGTGGTAT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAaacgtgtggtatAGATCGAGACCCGACGC chr19:45332708-Alternative-G;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative G ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CGAACGAATTGA CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAcgaacgaattgaAGATCGAGACCCGACGC chr19:45332708-Alternative-G;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative G ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc CGGACTGAAGCT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAcggactgaagctAGATCGAGACCCGACGC chr19:45332708-Alternative-G;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative G ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc GCGAACGCGATT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAgcgaacgcgattAGATCGAGACCCGACGC chr19:45332708-Alternative-G;Patient-92 chr19:45332708-TC Inherited Patient-92 intergenic NA 0.000513 0.73 11.31 0.59 CBLC 51581 Alternative G ataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgcc AGTTAACCGTGT CGACGCGGTCTCTCTCTataaataaatagcagattagaaacccgtctgtgactcaggttttctcattGctcttagaataaaattcaaactcctacaaaaggctgcgtgcatagtgccAGAGGGAGACGGACGTCTCAATAAagttaaccgtgtAGATCGAGACCCGACGC chr19:45332708-Alternative-G;Patient-92 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative C tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GGTCGTCATTAA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAggtcgtcattaaAGATCGAGACCCGACGC chr19:45523752-Alternative-C;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative T tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt AGTTGTGTTACG CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAagttgtgttacgAGATCGAGACCCGACGC chr19:45523752-Alternative-T;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Reference G tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt AGTTCACAGACA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAagttcacagacaAGATCGAGACCCGACGC chr19:45523752-Reference-G;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Reference G tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt AACGATGTCCTA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAaacgatgtcctaAGATCGAGACCCGACGC chr19:45523752-Reference-G;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Reference G tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt ACGGCAACGTTC CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAacggcaacgttcAGATCGAGACCCGACGC chr19:45523752-Reference-G;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative T tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt CGACACCTTATT CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAcgacaccttattAGATCGAGACCCGACGC chr19:45523752-Alternative-T;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Reference G tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt CGGTAATCTCGG CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAcggtaatctcggAGATCGAGACCCGACGC chr19:45523752-Reference-G;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative T tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GGCCGTATGAAC CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAggccgtatgaacAGATCGAGACCCGACGC chr19:45523752-Alternative-T;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative T tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt CTAGCGAATCAA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAActagcgaatcaaAGATCGAGACCCGACGC chr19:45523752-Alternative-T;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Reference G tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt ACGAATTGATGC CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcGtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAacgaattgatgcAGATCGAGACCCGACGC chr19:45523752-Reference-G;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative T tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GCAACAACGGCA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcTtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAgcaacaacggcaAGATCGAGACCCGACGC chr19:45523752-Alternative-T;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative C tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GATGACACCGTC CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAgatgacaccgtcAGATCGAGACCCGACGC chr19:45523752-Alternative-C;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Variant A tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt CGCAACGAGTTA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAcgcaacgagttaAGATCGAGACCCGACGC chr19:45523752-Variant-A;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative C tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt AGGCGTCCGAAT CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAaggcgtccgaatAGATCGAGACCCGACGC chr19:45523752-Alternative-C;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Variant A tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GACCATGAGAAG CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAgaccatgagaagAGATCGAGACCCGACGC chr19:45523752-Variant-A;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Variant A tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GCATCGACGGTT CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAgcatcgacggttAGATCGAGACCCGACGC chr19:45523752-Variant-A;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative C tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt AGCTTCGGCTGA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAagcttcggctgaAGATCGAGACCCGACGC chr19:45523752-Alternative-C;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Alternative C tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt GTTCTGCGAGCA CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcCtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAgttctgcgagcaAGATCGAGACCCGACGC chr19:45523752-Alternative-C;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Variant A tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt ACCGCAGTAGAT CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAAaccgcagtagatAGATCGAGACCCGACGC chr19:45523752-Variant-A;Patient-65 chr19:45523752-GA DeNovo Patient-65 intronic RELB NA 4.95e-05 -0.04 2.1 -0.35 RELB 19044 Variant A tctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgt CTTGACTGATCG CGACGCGGTCTCTCTCTtctcaagcagtcctcccacctcaacctcccaaagtactgggattacaggcAtgagccactgtgcctggcccatcatttgttgtcttttaaccccaaatgtAGAGGGAGACGGACGTCTCAATAActtgactgatcgAGATCGAGACCCGACGC chr19:45523752-Variant-A;Patient-65 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Variant A ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ACTCGTGCTTCG CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAactcgtgcttcgAGATCGAGACCCGACGC chr19:45872637-Variant-A;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Variant A ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga CGATTGCACATA CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAcgattgcacataAGATCGAGACCCGACGC chr19:45872637-Variant-A;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Variant A ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GGTCAATTCGGC CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAggtcaattcggcAGATCGAGACCCGACGC chr19:45872637-Variant-A;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative T ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GCATACGTGAAC CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgcatacgtgaacAGATCGAGACCCGACGC chr19:45872637-Alternative-T;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative C ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ATAGTTGACAGG CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAatagttgacaggAGATCGAGACCCGACGC chr19:45872637-Alternative-C;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Variant A ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ATCCTACGTTGT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAatcctacgttgtAGATCGAGACCCGACGC chr19:45872637-Variant-A;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative C ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GGTTGTTCAGCG CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAggttgttcagcgAGATCGAGACCCGACGC chr19:45872637-Alternative-C;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Reference G ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ACGCGACGACTA CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAacgcgacgactaAGATCGAGACCCGACGC chr19:45872637-Reference-G;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative T ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga CTTGGTTCTAGT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAActtggttctagtAGATCGAGACCCGACGC chr19:45872637-Alternative-T;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative C ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga CGAACTTGCGCT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAcgaacttgcgctAGATCGAGACCCGACGC chr19:45872637-Alternative-C;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative C ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GATCGTCCTTAT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgatcgtccttatAGATCGAGACCCGACGC chr19:45872637-Alternative-C;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative C ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GATGTTGGCTTA CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaCcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgatgttggcttaAGATCGAGACCCGACGC chr19:45872637-Alternative-C;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Reference G ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GCGCTACCTAGT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgcgctacctagtAGATCGAGACCCGACGC chr19:45872637-Reference-G;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative T ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GTGTCGCGTACT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgtgtcgcgtactAGATCGAGACCCGACGC chr19:45872637-Alternative-T;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative T ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga AGGACATAAGTC CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAaggacataagtcAGATCGAGACCCGACGC chr19:45872637-Alternative-T;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Variant A ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GCGGATGGAACT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaAcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgcggatggaactAGATCGAGACCCGACGC chr19:45872637-Variant-A;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Alternative T ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GCATATTGCGGC CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaTcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgcatattgcggcAGATCGAGACCCGACGC chr19:45872637-Alternative-T;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Reference G ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga GTGACTAAGGCG CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAgtgactaaggcgAGATCGAGACCCGACGC chr19:45872637-Reference-G;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Reference G ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ACAAGATACGGT CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAacaagatacggtAGATCGAGACCCGACGC chr19:45872637-Reference-G;Patient-67 chr19:45872637-GA DeNovo Patient-67 intronic ERCC2 3.2e-05 0.000165 -0.12 1.19 -1.7 ERCC2 1207 Reference G ggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttggga ATACGGACAAGG CGACGCGGTCTCTCTCTggcaagtaccttcacctccccagacctcagtatccctatctctaaaatgaGcctaaagccaggcgtggtggctcacacctgtaatcccagcactttgggaAGAGGGAGACGGACGTCTCAATAAatacggacaaggAGATCGAGACCCGACGC chr19:45872637-Reference-G;Patient-67 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative A cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc CAACGACTTGCG CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAcaacgacttgcgAGATCGAGACCCGACGC chr19:458758-Alternative-A;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative A cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc ACGGTGTTCGGT CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAacggtgttcggtAGATCGAGACCCGACGC chr19:458758-Alternative-A;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative A cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc AACAGGTATCGT CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAaacaggtatcgtAGATCGAGACCCGACGC chr19:458758-Alternative-A;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative C cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc CTAAGACGGACG CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAActaagacggacgAGATCGAGACCCGACGC chr19:458758-Alternative-C;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative C cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc CGGTCGAGTTCT CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAcggtcgagttctAGATCGAGACCCGACGC chr19:458758-Alternative-C;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative C cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GCGAGTGGTCAA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAgcgagtggtcaaAGATCGAGACCCGACGC chr19:458758-Alternative-C;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative A cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc AGTGGCGGCATA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAagtggcggcataAGATCGAGACCCGACGC chr19:458758-Alternative-A;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative C cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc ATCTGCGAACGC CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAatctgcgaacgcAGATCGAGACCCGACGC chr19:458758-Alternative-C;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative A cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GGCTAAGGCGAA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccAgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAggctaaggcgaaAGATCGAGACCCGACGC chr19:458758-Alternative-A;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Variant T cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GTAAGTATCGAG CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAgtaagtatcgagAGATCGAGACCCGACGC chr19:458758-Variant-T;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Variant T cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GGAAGTATACGC CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAggaagtatacgcAGATCGAGACCCGACGC chr19:458758-Variant-T;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Alternative C cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc CAGTACAGACGC CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccCgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAcagtacagacgcAGATCGAGACCCGACGC chr19:458758-Alternative-C;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Variant T cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GCGCATTGATAA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAgcgcattgataaAGATCGAGACCCGACGC chr19:458758-Variant-T;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Reference G cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc AACTACGGTCAA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAaactacggtcaaAGATCGAGACCCGACGC chr19:458758-Reference-G;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Variant T cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc AGCGTCAACAAC CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAagcgtcaacaacAGATCGAGACCCGACGC chr19:458758-Variant-T;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Variant T cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc ATTGCGGTAGCG CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccTgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAattgcggtagcgAGATCGAGACCCGACGC chr19:458758-Variant-T;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Reference G cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc AGTCGTAGAGCG CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAagtcgtagagcgAGATCGAGACCCGACGC chr19:458758-Reference-G;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Reference G cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc ACATCGGTTCTA CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAacatcggttctaAGATCGAGACCCGACGC chr19:458758-Reference-G;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Reference G cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GTCGCTCGTCAT CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAgtcgctcgtcatAGATCGAGACCCGACGC chr19:458758-Reference-G;Patient-45 chr19:458758-GT Inherited Patient-45 intronic SHC2 0.000626 0.000247 -0.39 0.19 -2.45 SHC2 2237 Reference G cgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggc GAGATCTGCGAC CGACGCGGTCTCTCTCTcgggtcttggggaggcggaagtgggttccggggaggcggaagcgggtcccGgggaggcggaggcgggttccggggaggcggaagcgggtcctggggaggcAGAGGGAGACGGACGTCTCAATAAgagatctgcgacAGATCGAGACCCGACGC chr19:458758-Reference-G;Patient-45 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative A aaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CAGTATGTATCG CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcagtatgtatcgAGATCGAGACCCGACGC chr19:46098601-Alternative-A;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Reference C aaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GTGTTATCGTAC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgtgttatcgtacAGATCGAGACCCGACGC chr19:46098601-Reference-C;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative G aaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CAATGTCCGCGT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcaatgtccgcgtAGATCGAGACCCGACGC chr19:46098601-Alternative-G;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Reference C aaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa AATGATCGGCGG CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAaatgatcggcggAGATCGAGACCCGACGC chr19:46098601-Reference-C;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative A aaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GCAACCGTGGTT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgcaaccgtggttAGATCGAGACCCGACGC chr19:46098601-Alternative-A;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Reference C aaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa AACAGGTCTGTT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAaacaggtctgttAGATCGAGACCCGACGC chr19:46098601-Reference-C;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Variant T aaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CAACCAGCAAGT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcaaccagcaagtAGATCGAGACCCGACGC chr19:46098601-Variant-T;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Variant T aaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CGATTAATCACG CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcgattaatcacgAGATCGAGACCCGACGC chr19:46098601-Variant-T;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Variant T aaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CGTATAGCCTGG CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcgtatagcctggAGATCGAGACCCGACGC chr19:46098601-Variant-T;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative A aaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GGCGGTAGTACA CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAggcggtagtacaAGATCGAGACCCGACGC chr19:46098601-Alternative-A;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative A aaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GAGATCCTACAG CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgagatcctacagAGATCGAGACCCGACGC chr19:46098601-Alternative-A;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative G aaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GTTGTGTAACCA CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgttgtgtaaccaAGATCGAGACCCGACGC chr19:46098601-Alternative-G;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Reference C aaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GGACCGGCTATT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAggaccggctattAGATCGAGACCCGACGC chr19:46098601-Reference-C;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Reference C aaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GATAGTTCTGAC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccCtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgatagttctgacAGATCGAGACCCGACGC chr19:46098601-Reference-C;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Variant T aaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa ATTCGTGAAGTC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAattcgtgaagtcAGATCGAGACCCGACGC chr19:46098601-Variant-T;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Variant T aaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CGTGGTAGGTTC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccTtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcgtggtaggttcAGATCGAGACCCGACGC chr19:46098601-Variant-T;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative A aaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GACGTACTACTA CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccAtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAgacgtactactaAGATCGAGACCCGACGC chr19:46098601-Alternative-A;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative G aaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa CGGTAGCAGACT CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAcggtagcagactAGATCGAGACCCGACGC chr19:46098601-Alternative-G;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative G aaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GGTTGGTACGTC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAggttggtacgtcAGATCGAGACCCGACGC chr19:46098601-Alternative-G;Patient-54 chr19:46098601-CT DeNovo Patient-54 intronic GPR4 0.000544 0.000479233 0.06 3.53 0.06 GPR4 6864 Alternative G aaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaa GGACATTCAATC CGACGCGGTCTCTCTCTaaataaataaataaataaataaataaaaaataactggacagaaaagggccGtgggctgccagtggggactgggaaccaaagctgcagaggagtaagggaaAGAGGGAGACGGACGTCTCAATAAggacattcaatcAGATCGAGACCCGACGC chr19:46098601-Alternative-G;Patient-54 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative A cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GCGACTTATGAT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAgcgacttatgatAGATCGAGACCCGACGC chr19:46360592-Alternative-A;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Reference C cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc ACAGAGCGAGAT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAacagagcgagatAGATCGAGACCCGACGC chr19:46360592-Reference-C;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative A cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc ATATACGAGCGA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAatatacgagcgaAGATCGAGACCCGACGC chr19:46360592-Alternative-A;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Reference C cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GGACTCTGCGAA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAggactctgcgaaAGATCGAGACCCGACGC chr19:46360592-Reference-C;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Reference C cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc AAGATGGCGCAG CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAaagatggcgcagAGATCGAGACCCGACGC chr19:46360592-Reference-C;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative A cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GGAACCTAACAT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAggaacctaacatAGATCGAGACCCGACGC chr19:46360592-Alternative-A;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Reference C cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc AGTACCTTCGTT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAagtaccttcgttAGATCGAGACCCGACGC chr19:46360592-Reference-C;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Reference C cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc CAGGCTCGTAGA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccCgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAcaggctcgtagaAGATCGAGACCCGACGC chr19:46360592-Reference-C;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative A cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc CTCATGATCCAT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAActcatgatccatAGATCGAGACCCGACGC chr19:46360592-Alternative-A;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative A cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc CTAATCTGATGG CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccAgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAActaatctgatggAGATCGAGACCCGACGC chr19:46360592-Alternative-A;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative G cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc AATAGCGTCGAA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAaatagcgtcgaaAGATCGAGACCCGACGC chr19:46360592-Alternative-G;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Variant T cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GACCGCAATAGG CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAgaccgcaataggAGATCGAGACCCGACGC chr19:46360592-Variant-T;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative G cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GGCTCGATAAGG CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAggctcgataaggAGATCGAGACCCGACGC chr19:46360592-Alternative-G;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative G cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GGAGGACGTTCA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAggaggacgttcaAGATCGAGACCCGACGC chr19:46360592-Alternative-G;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Variant T cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc CGGCATTAGATT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAcggcattagattAGATCGAGACCCGACGC chr19:46360592-Variant-T;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative G cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GCGCTCGTTACA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAgcgctcgttacaAGATCGAGACCCGACGC chr19:46360592-Alternative-G;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Alternative G cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GTGATCGTAAGA CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccGgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAgtgatcgtaagaAGATCGAGACCCGACGC chr19:46360592-Alternative-G;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Variant T cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc AAGATATACGGC CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAaagatatacggcAGATCGAGACCCGACGC chr19:46360592-Variant-T;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Variant T cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc CAGACGTACCTT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAcagacgtaccttAGATCGAGACCCGACGC chr19:46360592-Variant-T;Patient-35 chr19:46360592-CT DeNovo Patient-35 intronic SYMPK 0.000179 0.000639 -0.13 1.17 0 SYMPK 5955 Variant T cctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagcc GTTCTGGCTCGT CGACGCGGTCTCTCTCTcctgtattcccagctactcgggaggctgaggcaggagaatggcatgaaccTgggaagcggaacttgcagtgagctgagatcacaacactgtactcgagccAGAGGGAGACGGACGTCTCAATAAgttctggctcgtAGATCGAGACCCGACGC chr19:46360592-Variant-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Reference G agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GTCGATAATGCT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgtcgataatgctAGATCGAGACCCGACGC chr19:46380512-Reference-G;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative T agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat AGCTATACACCT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAagctatacacctAGATCGAGACCCGACGC chr19:46380512-Alternative-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative T agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CTAAGCGAACAG CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAActaagcgaacagAGATCGAGACCCGACGC chr19:46380512-Alternative-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Reference G agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CAAGTTATGCGT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAcaagttatgcgtAGATCGAGACCCGACGC chr19:46380512-Reference-G;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Reference G agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GAATCATGGCTT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgaatcatggcttAGATCGAGACCCGACGC chr19:46380512-Reference-G;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative T agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat ATTGGTCGAACC CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAattggtcgaaccAGATCGAGACCCGACGC chr19:46380512-Alternative-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative T agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GGCTCGTTACGA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAggctcgttacgaAGATCGAGACCCGACGC chr19:46380512-Alternative-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative T agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CGCTACCGTCTA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggTgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAcgctaccgtctaAGATCGAGACCCGACGC chr19:46380512-Alternative-T;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Reference G agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat ACTCATAGTGCT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAactcatagtgctAGATCGAGACCCGACGC chr19:46380512-Reference-G;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Variant A agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CGGACCGTACAT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAcggaccgtacatAGATCGAGACCCGACGC chr19:46380512-Variant-A;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Variant A agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GGTGGCGTACTA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAggtggcgtactaAGATCGAGACCCGACGC chr19:46380512-Variant-A;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Reference G agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GCGATCGTGCTT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggGgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgcgatcgtgcttAGATCGAGACCCGACGC chr19:46380512-Reference-G;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Variant A agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GCATTGTCCTAC CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgcattgtcctacAGATCGAGACCCGACGC chr19:46380512-Variant-A;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative C agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CTTAACGGAACT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAActtaacggaactAGATCGAGACCCGACGC chr19:46380512-Alternative-C;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Variant A agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GATAGGTGGCGT CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgataggtggcgtAGATCGAGACCCGACGC chr19:46380512-Variant-A;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Variant A agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GTATCAGGTTCA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggAgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgtatcaggttcaAGATCGAGACCCGACGC chr19:46380512-Variant-A;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative C agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CGCTTCATCCGA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAcgcttcatccgaAGATCGAGACCCGACGC chr19:46380512-Alternative-C;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative C agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat GATGTTCCGACG CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAgatgttccgacgAGATCGAGACCCGACGC chr19:46380512-Alternative-C;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative C agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat AGACCGTTGTCG CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAagaccgttgtcgAGATCGAGACCCGACGC chr19:46380512-Alternative-C;Patient-35 chr19:46380512-GA DeNovo Patient-35 intergenic 0.000191 0.00205 0.48 9.24 3.64 FOXA3 12993 Alternative C agacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacat CGCAGCGTATGA CGACGCGGTCTCTCTCTagacatgggacgcatggacagacacgggacgccacgaatcagggatgtggCgtggccatggggacacaggcggccctgggctgtgggcctaaggtgacatAGAGGGAGACGGACGTCTCAATAAcgcagcgtatgaAGATCGAGACCCGACGC chr19:46380512-Alternative-C;Patient-35 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Reference G ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGAATCGCTGCA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcgaatcgctgcaAGATCGAGACCCGACGC chr19:47785200-Reference-G;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Reference G ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag ACATGCTGAGAA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAacatgctgagaaAGATCGAGACCCGACGC chr19:47785200-Reference-G;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Reference G ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGTGCCGTAACT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcgtgccgtaactAGATCGAGACCCGACGC chr19:47785200-Reference-G;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative C ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGGTAGCATATA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcggtagcatataAGATCGAGACCCGACGC chr19:47785200-Alternative-C;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative C ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GCGAGTTGATGG CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAgcgagttgatggAGATCGAGACCCGACGC chr19:47785200-Alternative-C;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Variant A ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GCAGCAACCTAT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAgcagcaacctatAGATCGAGACCCGACGC chr19:47785200-Variant-A;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Variant A ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CTATGCGATGAA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAActatgcgatgaaAGATCGAGACCCGACGC chr19:47785200-Variant-A;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative C ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GTCATGACTCTT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAgtcatgactcttAGATCGAGACCCGACGC chr19:47785200-Alternative-C;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative T ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GGTAGATGTGCG CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAggtagatgtgcgAGATCGAGACCCGACGC chr19:47785200-Alternative-T;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Reference G ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag AGCTAATTGACC CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAagctaattgaccAGATCGAGACCCGACGC chr19:47785200-Reference-G;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative C ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CTAGGTAGCGGT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAActaggtagcggtAGATCGAGACCCGACGC chr19:47785200-Alternative-C;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Reference G ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGCTCCTAGCTT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccGcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcgctcctagcttAGATCGAGACCCGACGC chr19:47785200-Reference-G;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Variant A ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGATAGGATCGG CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcgataggatcggAGATCGAGACCCGACGC chr19:47785200-Variant-A;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative T ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag CGTTAAGTTGGT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAcgttaagttggtAGATCGAGACCCGACGC chr19:47785200-Alternative-T;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative T ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GTAGATGTTCAC CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAgtagatgttcacAGATCGAGACCCGACGC chr19:47785200-Alternative-T;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative T ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GGAGATTCGGCA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAggagattcggcaAGATCGAGACCCGACGC chr19:47785200-Alternative-T;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative C ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag ACTCACAACGAT CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccCcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAactcacaacgatAGATCGAGACCCGACGC chr19:47785200-Alternative-C;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Variant A ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GGTCGATATAGA CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAggtcgatatagaAGATCGAGACCCGACGC chr19:47785200-Variant-A;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Variant A ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag GACATAGTTGAG CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccAcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAgacatagttgagAGATCGAGACCCGACGC chr19:47785200-Variant-A;Patient-42 chr19:47785200-GA DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.05 1.98 0 C5AR1 27930 Alternative T ccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaag ACGATGAGTCGG CGACGCGGTCTCTCTCTccttggcctcccaaagtgttgggattacaggcgtgagccaccgcaccaccTcacccggccgcagcgtcctgttgtcaaggcttttctgggtgaaagcaagAGAGGGAGACGGACGTCTCAATAAacgatgagtcggAGATCGAGACCCGACGC chr19:47785200-Alternative-T;Patient-42 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative G tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CTCGCATGATGT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAActcgcatgatgtAGATCGAGACCCGACGC chr19:4780567-Alternative-G;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative G tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GGACGATCAGCA CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAggacgatcagcaAGATCGAGACCCGACGC chr19:4780567-Alternative-G;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Reference C tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg ACTCATGCGGAG CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAactcatgcggagAGATCGAGACCCGACGC chr19:4780567-Reference-C;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative A tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GACGCGGCTTAA CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAgacgcggcttaaAGATCGAGACCCGACGC chr19:4780567-Alternative-A;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative G tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GTGCGATACTTA CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAgtgcgatacttaAGATCGAGACCCGACGC chr19:4780567-Alternative-G;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative A tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg AGTGTACTAACC CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAagtgtactaaccAGATCGAGACCCGACGC chr19:4780567-Alternative-A;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative G tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CGTTACGCGGTT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAcgttacgcggttAGATCGAGACCCGACGC chr19:4780567-Alternative-G;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Reference C tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GGAAGTACGCAT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAggaagtacgcatAGATCGAGACCCGACGC chr19:4780567-Reference-C;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative A tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GTCGTGGACGTT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAgtcgtggacgttAGATCGAGACCCGACGC chr19:4780567-Alternative-A;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative G tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GGTTCGCAACAC CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgGggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAggttcgcaacacAGATCGAGACCCGACGC chr19:4780567-Alternative-G;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Variant T tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CAACCACACCTT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAcaaccacaccttAGATCGAGACCCGACGC chr19:4780567-Variant-T;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Reference C tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CGTGTAGCAGTC CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAcgtgtagcagtcAGATCGAGACCCGACGC chr19:4780567-Reference-C;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Variant T tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CTCGTTATGACT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAActcgttatgactAGATCGAGACCCGACGC chr19:4780567-Variant-T;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative A tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg ACTAAGCCGACC CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAactaagccgaccAGATCGAGACCCGACGC chr19:4780567-Alternative-A;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Reference C tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CTATGACCGATA CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAActatgaccgataAGATCGAGACCCGACGC chr19:4780567-Reference-C;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Variant T tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg ACCGAGAATCAA CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAaccgagaatcaaAGATCGAGACCCGACGC chr19:4780567-Variant-T;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Variant T tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CGTCGTGTATGG CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAcgtcgtgtatggAGATCGAGACCCGACGC chr19:4780567-Variant-T;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Alternative A tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg GCGTCTTGATGG CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgAggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAgcgtcttgatggAGATCGAGACCCGACGC chr19:4780567-Alternative-A;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Variant T tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg AGACGGTCCGTT CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgTggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAagacggtccgttAGATCGAGACCCGACGC chr19:4780567-Variant-T;Patient-88 chr19:4780567-CT DeNovo Patient-88 intergenic 6.4e-05 0.000513 -0.01 2.43 0 TICAM1 51186 Reference C tgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcgg CGAGCTAATAAG CGACGCGGTCTCTCTCTtgtgtgatggtcttaaaacatccacagccgggcacggtggctgctgggcgCggtggctcacgcctgtaatcccagcactttgggaggccgaggtgggcggAGAGGGAGACGGACGTCTCAATAAcgagctaataagAGATCGAGACCCGACGC chr19:4780567-Reference-C;Patient-88 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Reference C gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ACCGCACTTACG CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAaccgcacttacgAGATCGAGACCCGACGC chr19:47811543-Reference-C;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Reference C gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc AACAATGCGTCT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAaacaatgcgtctAGATCGAGACCCGACGC chr19:47811543-Reference-C;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Reference C gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc GTAGTACGGTGG CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAgtagtacggtggAGATCGAGACCCGACGC chr19:47811543-Reference-C;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Reference C gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ACAAGTCGGCCA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAacaagtcggccaAGATCGAGACCCGACGC chr19:47811543-Reference-C;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Reference C gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc AGTCAACGGCGA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagCtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAagtcaacggcgaAGATCGAGACCCGACGC chr19:47811543-Reference-C;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative A gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc CGGTGACTTACG CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAcggtgacttacgAGATCGAGACCCGACGC chr19:47811543-Alternative-A;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative A gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc CACGACATAGTT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAcacgacatagttAGATCGAGACCCGACGC chr19:47811543-Alternative-A;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative A gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc CTTACTGGATGA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAActtactggatgaAGATCGAGACCCGACGC chr19:47811543-Alternative-A;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative A gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc AGCAGTAAGTGT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAagcagtaagtgtAGATCGAGACCCGACGC chr19:47811543-Alternative-A;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative A gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc CTCAATCCTAGT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagAtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAActcaatcctagtAGATCGAGACCCGACGC chr19:47811543-Alternative-A;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Variant T gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc GGTGTTGCGTCA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAggtgttgcgtcaAGATCGAGACCCGACGC chr19:47811543-Variant-T;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Variant T gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ATTACTGCGCAA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAattactgcgcaaAGATCGAGACCCGACGC chr19:47811543-Variant-T;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Variant T gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc GTCGTCCATCGT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAgtcgtccatcgtAGATCGAGACCCGACGC chr19:47811543-Variant-T;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Variant T gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc AATGACTGACCT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAaatgactgacctAGATCGAGACCCGACGC chr19:47811543-Variant-T;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Variant T gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc GGCTTAGATGTT CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagTtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAggcttagatgttAGATCGAGACCCGACGC chr19:47811543-Variant-T;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative G gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc GGTCGATATATC CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAggtcgatatatcAGATCGAGACCCGACGC chr19:47811543-Alternative-G;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative G gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ACGTTGACGTCG CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAacgttgacgtcgAGATCGAGACCCGACGC chr19:47811543-Alternative-G;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative G gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ATCAAGTAACGG CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAatcaagtaacggAGATCGAGACCCGACGC chr19:47811543-Alternative-G;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative G gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ACATCGCGGTTC CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAacatcgcggttcAGATCGAGACCCGACGC chr19:47811543-Alternative-G;Patient-30 chr19:47811543-CT Inherited Patient-30 intergenic 6.5e-05 0.000512821 NA NA NA C5AR1 1587 Alternative G gagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcacc ATTCATCGTCCA CGACGCGGTCTCTCTCTgagcatgaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagGtccttatgagaatctaatgcctgatgatctgtcactgtatcccatcaccAGAGGGAGACGGACGTCTCAATAAattcatcgtccaAGATCGAGACCCGACGC chr19:47811543-Alternative-G;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative C aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GATATCTTCGCT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgatatcttcgctAGATCGAGACCCGACGC chr19:47811550-Alternative-C;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative C aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CAACATCGCATT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcaacatcgcattAGATCGAGACCCGACGC chr19:47811550-Alternative-C;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative C aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GGTATCTGTAGT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAggtatctgtagtAGATCGAGACCCGACGC chr19:47811550-Alternative-C;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative C aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat AATGAGCGCAAG CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAaatgagcgcaagAGATCGAGACCCGACGC chr19:47811550-Alternative-C;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative C aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CGATACGCATGC CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaCgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcgatacgcatgcAGATCGAGACCCGACGC chr19:47811550-Alternative-C;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative A aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GTAACCTTGCGG CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgtaaccttgcggAGATCGAGACCCGACGC chr19:47811550-Alternative-A;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative A aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GACGACTTAGTT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgacgacttagttAGATCGAGACCCGACGC chr19:47811550-Alternative-A;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative A aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat ACAATGATTGCG CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAacaatgattgcgAGATCGAGACCCGACGC chr19:47811550-Alternative-A;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative A aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GAGTCCGTTCCT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgagtccgttcctAGATCGAGACCCGACGC chr19:47811550-Alternative-A;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Alternative A aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat AATGTAGGCCGC CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaAgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAaatgtaggccgcAGATCGAGACCCGACGC chr19:47811550-Alternative-A;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Reference T aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GTTACTGAACGT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgttactgaacgtAGATCGAGACCCGACGC chr19:47811550-Reference-T;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Reference T aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CAGTAGCGTCCA CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcagtagcgtccaAGATCGAGACCCGACGC chr19:47811550-Reference-T;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Reference T aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat ACAGGATTCGTT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAacaggattcgttAGATCGAGACCCGACGC chr19:47811550-Reference-T;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Reference T aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CAGTTATCGTTC CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcagttatcgttcAGATCGAGACCCGACGC chr19:47811550-Reference-T;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Reference T aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GTCATGTTCGAA CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaTgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgtcatgttcgaaAGATCGAGACCCGACGC chr19:47811550-Reference-T;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Variant G aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CGCTTGAGCCTT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcgcttgagccttAGATCGAGACCCGACGC chr19:47811550-Variant-G;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Variant G aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat ACACCAACTAGT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAacaccaactagtAGATCGAGACCCGACGC chr19:47811550-Variant-G;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Variant G aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat AGGACGATTCTT CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAaggacgattcttAGATCGAGACCCGACGC chr19:47811550-Variant-G;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Variant G aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat GACCAACGATAA CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAgaccaacgataaAGATCGAGACCCGACGC chr19:47811550-Variant-G;Patient-30 chr19:47811550-TG Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA C5AR1 1580 Variant G aaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagat CGGTAATCGTTA CGACGCGGTCTCTCTCTaaccctgttgtgaacagcgcatgtgagggatctgggttgcaagctccttaGgagaatctaatgcctgatgatctgtcactgtatcccatcacccccagatAGAGGGAGACGGACGTCTCAATAAcggtaatcgttaAGATCGAGACCCGACGC chr19:47811550-Variant-G;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative C ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt AGTAGCCGTCCT CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAagtagccgtcctAGATCGAGACCCGACGC chr19:48502601-Alternative-C;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative C ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt AAGATAATGCGG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAaagataatgcggAGATCGAGACCCGACGC chr19:48502601-Alternative-C;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative C ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CGTAGTCTGTAA CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcgtagtctgtaaAGATCGAGACCCGACGC chr19:48502601-Alternative-C;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative C ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt ACGTCTGCCAAG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAacgtctgccaagAGATCGAGACCCGACGC chr19:48502601-Alternative-C;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative C ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt ATAACATGCGTC CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctCtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAataacatgcgtcAGATCGAGACCCGACGC chr19:48502601-Alternative-C;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Reference A ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GGTTAAGGCACG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAggttaaggcacgAGATCGAGACCCGACGC chr19:48502601-Reference-A;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Reference A ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CAATTGCTGCCG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcaattgctgccgAGATCGAGACCCGACGC chr19:48502601-Reference-A;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Reference A ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CGATAAGGCCGA CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcgataaggccgaAGATCGAGACCCGACGC chr19:48502601-Reference-A;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Reference A ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GTAGCTTATACG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAgtagcttatacgAGATCGAGACCCGACGC chr19:48502601-Reference-A;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Reference A ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CGAGAAGCTGGT CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctAtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcgagaagctggtAGATCGAGACCCGACGC chr19:48502601-Reference-A;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative T ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CAACGAATGTGC CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcaacgaatgtgcAGATCGAGACCCGACGC chr19:48502601-Alternative-T;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative T ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CATAGATCGGAA CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcatagatcggaaAGATCGAGACCCGACGC chr19:48502601-Alternative-T;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative T ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GATCCGAGTATC CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAgatccgagtatcAGATCGAGACCCGACGC chr19:48502601-Alternative-T;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative T ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CACGGTATCACA CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcacggtatcacaAGATCGAGACCCGACGC chr19:48502601-Alternative-T;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Alternative T ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CGGCTCATATGG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctTtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcggctcatatggAGATCGAGACCCGACGC chr19:48502601-Alternative-T;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Variant G ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GGTCTTGAAGTT CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAggtcttgaagttAGATCGAGACCCGACGC chr19:48502601-Variant-G;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Variant G ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt CGTAGCTTGTGG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAcgtagcttgtggAGATCGAGACCCGACGC chr19:48502601-Variant-G;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Variant G ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GATGTGTTGGCG CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAgatgtgttggcgAGATCGAGACCCGACGC chr19:48502601-Variant-G;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Variant G ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt AACTCGCGTACC CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAaactcgcgtaccAGATCGAGACCCGACGC chr19:48502601-Variant-G;Patient-30 chr19:48502601-AG Inherited Patient-30 intronic ELSPBP1 0.000268 0.00016 NA NA NA ELSPBP1 4692 Variant G ttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttctttttt GCGTTGCGCTTA CGACGCGGTCTCTCTCTttagtggcgacaagcacattcacaatgttgcaccatcatcaccattatctGtttccaggaacttgtcaccaccccatactgaaagcctcatttcttttttAGAGGGAGACGGACGTCTCAATAAgcgttgcgcttaAGATCGAGACCCGACGC chr19:48502601-Variant-G;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Variant G gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GCAACGATCGTC CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAgcaacgatcgtcAGATCGAGACCCGACGC chr19:48505919-Variant-G;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Reference C gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CGACATCTAACA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcgacatctaacaAGATCGAGACCCGACGC chr19:48505919-Reference-C;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Reference C gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CGACCAACGTGT CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcgaccaacgtgtAGATCGAGACCCGACGC chr19:48505919-Reference-C;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Reference C gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GGTCAAGATAAC CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAggtcaagataacAGATCGAGACCCGACGC chr19:48505919-Reference-C;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Reference C gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GTCGCGTTCACA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAgtcgcgttcacaAGATCGAGACCCGACGC chr19:48505919-Reference-C;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Reference C gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CGCATTGAAGAA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctCgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcgcattgaagaaAGATCGAGACCCGACGC chr19:48505919-Reference-C;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative A gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg ACGTCTTCAACC CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAacgtcttcaaccAGATCGAGACCCGACGC chr19:48505919-Alternative-A;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative A gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CAGTTGGCATTA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcagttggcattaAGATCGAGACCCGACGC chr19:48505919-Alternative-A;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative A gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GATCAGTTGAGA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAgatcagttgagaAGATCGAGACCCGACGC chr19:48505919-Alternative-A;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative A gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GTTAATTGTGCG CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAgttaattgtgcgAGATCGAGACCCGACGC chr19:48505919-Alternative-A;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative A gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GGTCGTTCAGCA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctAgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAggtcgttcagcaAGATCGAGACCCGACGC chr19:48505919-Alternative-A;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Variant G gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg GATGATAACGCG CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAgatgataacgcgAGATCGAGACCCGACGC chr19:48505919-Variant-G;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Variant G gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg AAGAACCAGTAC CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAaagaaccagtacAGATCGAGACCCGACGC chr19:48505919-Variant-G;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Variant G gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CTCATTGAACCT CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAActcattgaacctAGATCGAGACCCGACGC chr19:48505919-Variant-G;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative T gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CTGGTGCAAGTC CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAActggtgcaagtcAGATCGAGACCCGACGC chr19:48505919-Alternative-T;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative T gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CGGAACGGACTA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcggaacggactaAGATCGAGACCCGACGC chr19:48505919-Alternative-T;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative T gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg CAACTAGACGTT CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAcaactagacgttAGATCGAGACCCGACGC chr19:48505919-Alternative-T;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative T gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg ATCGTCATCGTT CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAatcgtcatcgttAGATCGAGACCCGACGC chr19:48505919-Alternative-T;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Alternative T gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg ATCCGCACTCGA CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctTgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAatccgcactcgaAGATCGAGACCCGACGC chr19:48505919-Alternative-T;Patient-30 chr19:48505919-CG Inherited Patient-30 intronic ELSPBP1 0.000319 0.00016 NA NA NA ELSPBP1 8010 Variant G gaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttg ATTGTCAGCTGT CGACGCGGTCTCTCTCTgaaaccgtgtctctactaaaaagacaaaaaaatagctgagcgtgatggctGgtgcctgtaatcccagtgactcaggaggccgaggcaagagaattgcttgAGAGGGAGACGGACGTCTCAATAAattgtcagctgtAGATCGAGACCCGACGC chr19:48505919-Variant-G;Patient-30 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative C caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CATAAGGTACAG CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAcataaggtacagAGATCGAGACCCGACGC chr19:48581388-Alternative-C;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Variant G caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa AGCAGCAATCAA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAagcagcaatcaaAGATCGAGACCCGACGC chr19:48581388-Variant-G;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Variant G caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa GACTGCCGGATT CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAgactgccggattAGATCGAGACCCGACGC chr19:48581388-Variant-G;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Variant G caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ACGTCGATTGAT CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAacgtcgattgatAGATCGAGACCCGACGC chr19:48581388-Variant-G;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Reference A caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ACTCTTGCAAGA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAactcttgcaagaAGATCGAGACCCGACGC chr19:48581388-Reference-A;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Variant G caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CTAGTAGCTCTA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAActagtagctctaAGATCGAGACCCGACGC chr19:48581388-Variant-G;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Variant G caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa GTGCTAATGGAA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcGtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAgtgctaatggaaAGATCGAGACCCGACGC chr19:48581388-Variant-G;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative T caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CGATTACAACGC CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAcgattacaacgcAGATCGAGACCCGACGC chr19:48581388-Alternative-T;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative C caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ACACGTGATTCA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAacacgtgattcaAGATCGAGACCCGACGC chr19:48581388-Alternative-C;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Reference A caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CGAGACACAGCA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAcgagacacagcaAGATCGAGACCCGACGC chr19:48581388-Reference-A;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative T caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ATAGGAGCTACG CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAataggagctacgAGATCGAGACCCGACGC chr19:48581388-Alternative-T;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative C caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ACAGACGAACAC CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAacagacgaacacAGATCGAGACCCGACGC chr19:48581388-Alternative-C;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Reference A caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ATCGGCAGATAA CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAatcggcagataaAGATCGAGACCCGACGC chr19:48581388-Reference-A;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Reference A caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ATCACGTCGTCC CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAatcacgtcgtccAGATCGAGACCCGACGC chr19:48581388-Reference-A;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative T caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ATAAGCCACGCG CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAataagccacgcgAGATCGAGACCCGACGC chr19:48581388-Alternative-T;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative T caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa ACCGATCAACCG CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAaccgatcaaccgAGATCGAGACCCGACGC chr19:48581388-Alternative-T;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative T caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa AGCTACTATGCT CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcTtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAagctactatgctAGATCGAGACCCGACGC chr19:48581388-Alternative-T;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative C caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CGGTAACATCAT CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAcggtaacatcatAGATCGAGACCCGACGC chr19:48581388-Alternative-C;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Reference A caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa CGAGATGCGAAG CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcAtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAcgagatgcgaagAGATCGAGACCCGACGC chr19:48581388-Reference-A;Patient-93 chr19:48581388-AG DeNovo Patient-93 intronic PLA2G4C NA 4.95e-05 0.67 10.83 0.16 PLA2G4C 32720 Alternative C caagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaa GTAACTAGGCGC CGACGCGGTCTCTCTCTcaagtcaacaaatgtgatatatcacagaaacagaattaaaaacaaaaatcCtaggagatgcagaagcatttcacaaaatcccacatccctttatgattaaAGAGGGAGACGGACGTCTCAATAAgtaactaggcgcAGATCGAGACCCGACGC chr19:48581388-Alternative-C;Patient-93 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Reference C tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc GTCGTCGATAAT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAgtcgtcgataatAGATCGAGACCCGACGC chr19:48614779-Reference-C;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Reference C tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CGAGTCGGCTAT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcgagtcggctatAGATCGAGACCCGACGC chr19:48614779-Reference-C;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Reference C tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGTAAGCAACCA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAagtaagcaaccaAGATCGAGACCCGACGC chr19:48614779-Reference-C;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Reference C tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CACTTCGTGATT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcacttcgtgattAGATCGAGACCCGACGC chr19:48614779-Reference-C;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Reference C tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGGTTGGTAACA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcCaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAaggttggtaacaAGATCGAGACCCGACGC chr19:48614779-Reference-C;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative A tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CAAGCCGTCAAT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcaagccgtcaatAGATCGAGACCCGACGC chr19:48614779-Alternative-A;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative A tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc ATCCGCAATAGG CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAatccgcaataggAGATCGAGACCCGACGC chr19:48614779-Alternative-A;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative A tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc ATACGTTGTGGT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAatacgttgtggtAGATCGAGACCCGACGC chr19:48614779-Alternative-A;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative A tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGAGTATCCTGT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAagagtatcctgtAGATCGAGACCCGACGC chr19:48614779-Alternative-A;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Variant G tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CGCGTTAGACCA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcgcgttagaccaAGATCGAGACCCGACGC chr19:48614779-Variant-G;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Variant G tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGGCTGTTCATA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAaggctgttcataAGATCGAGACCCGACGC chr19:48614779-Variant-G;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative T tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGTGTCGCGGAT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAagtgtcgcggatAGATCGAGACCCGACGC chr19:48614779-Alternative-T;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Variant G tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AAGTATAGGCGT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAaagtataggcgtAGATCGAGACCCGACGC chr19:48614779-Variant-G;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative T tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGCGTACACTAT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAagcgtacactatAGATCGAGACCCGACGC chr19:48614779-Alternative-T;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative T tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CGCTTACATACG CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcgcttacatacgAGATCGAGACCCGACGC chr19:48614779-Alternative-T;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Variant G tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc ACCTGAAGTACT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAacctgaagtactAGATCGAGACCCGACGC chr19:48614779-Variant-G;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative T tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CATTCGTGGTAA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAcattcgtggtaaAGATCGAGACCCGACGC chr19:48614779-Alternative-T;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Variant G tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc GAGCAACTCCAA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcGaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAgagcaactccaaAGATCGAGACCCGACGC chr19:48614779-Variant-G;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative A tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc CTGCGTTCCTAA CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcAaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAActgcgttcctaaAGATCGAGACCCGACGC chr19:48614779-Alternative-A;Patient-68 chr19:48614779-CG Inherited Patient-68 intergenic 6.4e-05 0.000487 -0.23 0.57 -0.47 LIG1 59080 Alternative T tgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttcc AGGTGACGAACT CGACGCGGTCTCTCTCTtgaccgagttccagtcagtgcaatcgggcatctgtggggagcaccgcttcTaagagtggctcctagaaacctcccatactaccctcctgcctactcttccAGAGGGAGACGGACGTCTCAATAAaggtgacgaactAGATCGAGACCCGACGC chr19:48614779-Alternative-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative A ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GACTATAGCGAA CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgactatagcgaaAGATCGAGACCCGACGC chr19:48691835-Alternative-A;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative A ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CGGAGTAGTGCT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAcggagtagtgctAGATCGAGACCCGACGC chr19:48691835-Alternative-A;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Variant T ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GACGTTACGCGT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgacgttacgcgtAGATCGAGACCCGACGC chr19:48691835-Variant-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative A ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GACGCCGGATTA CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgacgccggattaAGATCGAGACCCGACGC chr19:48691835-Alternative-A;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Variant T ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CAGATTGCTGAG CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAcagattgctgagAGATCGAGACCCGACGC chr19:48691835-Variant-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Variant T ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca ATTGGTAGGCGG CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAattggtaggcggAGATCGAGACCCGACGC chr19:48691835-Variant-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative A ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CTTATCGCCTAT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAActtatcgcctatAGATCGAGACCCGACGC chr19:48691835-Alternative-A;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative G ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca AATGTGCTGACT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAaatgtgctgactAGATCGAGACCCGACGC chr19:48691835-Alternative-G;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative G ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CAACCGAACGCA CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAcaaccgaacgcaAGATCGAGACCCGACGC chr19:48691835-Alternative-G;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Variant T ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GTCGAGGTAACG CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgtcgaggtaacgAGATCGAGACCCGACGC chr19:48691835-Variant-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Variant T ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca AGACGTCTTGAT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcTagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAagacgtcttgatAGATCGAGACCCGACGC chr19:48691835-Variant-T;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative G ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CGTTCAGGCCTA CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAcgttcaggcctaAGATCGAGACCCGACGC chr19:48691835-Alternative-G;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Reference C ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca AATCGTTCACGT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAaatcgttcacgtAGATCGAGACCCGACGC chr19:48691835-Reference-C;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative G ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CTCTGCTATAGA CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAActctgctatagaAGATCGAGACCCGACGC chr19:48691835-Alternative-G;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Reference C ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GACCTAACAGAT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgacctaacagatAGATCGAGACCCGACGC chr19:48691835-Reference-C;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative G ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CTGAGCATCTGG CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcGagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAActgagcatctggAGATCGAGACCCGACGC chr19:48691835-Alternative-G;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Reference C ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca CTGTTCGGAACG CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAActgttcggaacgAGATCGAGACCCGACGC chr19:48691835-Reference-C;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Reference C ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca AGCTATCGCCAC CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAagctatcgccacAGATCGAGACCCGACGC chr19:48691835-Reference-C;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Alternative A ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GGTATCTGCAAT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcAagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAggtatctgcaatAGATCGAGACCCGACGC chr19:48691835-Alternative-A;Patient-68 chr19:48691835-CT Inherited Patient-68 intergenic 6.4e-05 9.9e-05 0.04 3.32 1.02 LIG1 17974 Reference C ttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagca GCATGCCTAAGT CGACGCGGTCTCTCTCTttaacaccttttatcacctgccctgcctgatgatgatgggctttggggtcCagtcacatctccattccctcacttgtggcaggcaccagggtaaccagcaAGAGGGAGACGGACGTCTCAATAAgcatgcctaagtAGATCGAGACCCGACGC chr19:48691835-Reference-C;Patient-68 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Reference C ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagacc CGGCTGGTAAGA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAcggctggtaagaAGATCGAGACCCGACGC chr19:48986066-Reference-C;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Reference C ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagacc GCACGCATAATT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAgcacgcataattAGATCGAGACCCGACGC chr19:48986066-Reference-C;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Variant A ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagacc AGCATCGACGCT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAagcatcgacgctAGATCGAGACCCGACGC chr19:48986066-Variant-A;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Reference C ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagacc CTATGGTCATTC CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAActatggtcattcAGATCGAGACCCGACGC chr19:48986066-Reference-C;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Reference C ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagacc GTCGTACGGTCA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAgtcgtacggtcaAGATCGAGACCCGACGC chr19:48986066-Reference-C;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Variant A ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagacc AATCACGCGTGG CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAaatcacgcgtggAGATCGAGACCCGACGC chr19:48986066-Variant-A;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Reference C ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagacc GCGAACGAATTA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttCctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAgcgaacgaattaAGATCGAGACCCGACGC chr19:48986066-Reference-C;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Variant A ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagacc ATATACTCGTGG CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAatatactcgtggAGATCGAGACCCGACGC chr19:48986066-Variant-A;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Variant A ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagacc CAGTCTTCGACC CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAcagtcttcgaccAGATCGAGACCCGACGC chr19:48986066-Variant-A;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative G ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagacc ATTCCGCGTCCT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAattccgcgtcctAGATCGAGACCCGACGC chr19:48986066-Alternative-G;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative G ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagacc AGCAGCTTGTTA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAagcagcttgttaAGATCGAGACCCGACGC chr19:48986066-Alternative-G;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative T ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagacc AGAACGGAATGA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAagaacggaatgaAGATCGAGACCCGACGC chr19:48986066-Alternative-T;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative T ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagacc AACAAGCCTTCT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAaacaagccttctAGATCGAGACCCGACGC chr19:48986066-Alternative-T;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Variant A ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagacc CGGTAGGTTAAT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttActccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAcggtaggttaatAGATCGAGACCCGACGC chr19:48986066-Variant-A;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative G ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagacc CGATTGGATTCA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAcgattggattcaAGATCGAGACCCGACGC chr19:48986066-Alternative-G;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative G ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagacc GCACGACGTTGT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAgcacgacgttgtAGATCGAGACCCGACGC chr19:48986066-Alternative-G;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative T ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagacc AGAATAATCGCG CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAagaataatcgcgAGATCGAGACCCGACGC chr19:48986066-Alternative-T;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative G ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagacc GTTAACGTATCG CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttGctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAgttaacgtatcgAGATCGAGACCCGACGC chr19:48986066-Alternative-G;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative T ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagacc CTAAGGTACGGT CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAActaaggtacggtAGATCGAGACCCGACGC chr19:48986066-Alternative-T;Patient-32 chr19:48986066-CA DeNovo Patient-32 intergenic NA 0.000243 -0.19 0.78 -1.82 KCNJ14 27101 Alternative T ggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagacc ACGTGTCTCTTA CGACGCGGTCTCTCTCTggaccccggcccctcctccctcagacccagaagtccaggccccagcccttTctccctcagacccaggagtccaggcccccatcccctcctccctcagaccAGAGGGAGACGGACGTCTCAATAAacgtgtctcttaAGATCGAGACCCGACGC chr19:48986066-Alternative-T;Patient-32 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Variant T aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc AGCATGTAACCT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAagcatgtaacctAGATCGAGACCCGACGC chr19:49046222-Variant-T;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Variant T aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GCATACCTTAAG CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcataccttaagAGATCGAGACCCGACGC chr19:49046222-Variant-T;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Reference G aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GTACCGCGGTAT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgtaccgcggtatAGATCGAGACCCGACGC chr19:49046222-Reference-G;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Variant T aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GATTGGTCGATT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgattggtcgattAGATCGAGACCCGACGC chr19:49046222-Variant-T;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Variant T aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CGTCTAACGTGG CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcgtctaacgtggAGATCGAGACCCGACGC chr19:49046222-Variant-T;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Variant T aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CTCTTGTAGGCG CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagTctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActcttgtaggcgAGATCGAGACCCGACGC chr19:49046222-Variant-T;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative A aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GCGAGCTAGACT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcgagctagactAGATCGAGACCCGACGC chr19:49046222-Alternative-A;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Reference G aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CGTTAGGTGCGA CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcgttaggtgcgaAGATCGAGACCCGACGC chr19:49046222-Reference-G;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative C aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GCCAATTAACCT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgccaattaacctAGATCGAGACCCGACGC chr19:49046222-Alternative-C;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative C aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc AACGCACGATGT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAaacgcacgatgtAGATCGAGACCCGACGC chr19:49046222-Alternative-C;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative A aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CTAGATATCCGG CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActagatatccggAGATCGAGACCCGACGC chr19:49046222-Alternative-A;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative A aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc AGCATAACAGGT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAagcataacaggtAGATCGAGACCCGACGC chr19:49046222-Alternative-A;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative A aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GCGAAGCATTCG CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcgaagcattcgAGATCGAGACCCGACGC chr19:49046222-Alternative-A;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Reference G aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CGGAATGGATTA CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcggaatggattaAGATCGAGACCCGACGC chr19:49046222-Reference-G;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative C aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GTCGTTGTCGTC CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgtcgttgtcgtcAGATCGAGACCCGACGC chr19:49046222-Alternative-C;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative A aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GATAGTGTACCT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagActgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgatagtgtacctAGATCGAGACCCGACGC chr19:49046222-Alternative-A;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative C aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc AGATTGCAGGAC CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAagattgcaggacAGATCGAGACCCGACGC chr19:49046222-Alternative-C;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Alternative C aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CGGCATTGTGCA CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagCctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcggcattgtgcaAGATCGAGACCCGACGC chr19:49046222-Alternative-C;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Reference G aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc CTAACCAGTCAT CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActaaccagtcatAGATCGAGACCCGACGC chr19:49046222-Reference-G;Patient-72 chr19:49046222-GT DeNovo Patient-72 intergenic NA 0.000487 -0.45 0.13 -0.4 SULT2B1 9206 Reference G aaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagc GCCGTATGCATC CGACGCGGTCTCTCTCTaaactggctgggcatgggagcacgtgcctgtaattccagctattcaggagGctgaggcaagagattcacttgaacccaggaggcagaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgccgtatgcatcAGATCGAGACCCGACGC chr19:49046222-Reference-G;Patient-72 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Reference C agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggaca CAGGTGATCGAG CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAcaggtgatcgagAGATCGAGACCCGACGC chr19:49200051-Reference-C;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative A agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AGCTTATGGCTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAagcttatggctaAGATCGAGACCCGACGC chr19:49200051-Alternative-A;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative A agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggaca ATCGACTAGGCG CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAatcgactaggcgAGATCGAGACCCGACGC chr19:49200051-Alternative-A;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Reference C agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggaca CTGGTGCGGTTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAActggtgcggttaAGATCGAGACCCGACGC chr19:49200051-Reference-C;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Reference C agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AGTCAGATCGAA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAagtcagatcgaaAGATCGAGACCCGACGC chr19:49200051-Reference-C;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Reference C agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggaca CGATTAGTGTAC CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAcgattagtgtacAGATCGAGACCCGACGC chr19:49200051-Reference-C;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative A agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AATCGGCTGTTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAaatcggctgttaAGATCGAGACCCGACGC chr19:49200051-Alternative-A;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Variant T agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GGCCGTGTTCAA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAggccgtgttcaaAGATCGAGACCCGACGC chr19:49200051-Variant-T;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Variant T agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggaca CTAGCGATTGAT CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAActagcgattgatAGATCGAGACCCGACGC chr19:49200051-Variant-T;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Variant T agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GGAATGGCATTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAggaatggcattaAGATCGAGACCCGACGC chr19:49200051-Variant-T;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative A agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GATTAGTACCGT CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAgattagtaccgtAGATCGAGACCCGACGC chr19:49200051-Alternative-A;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Variant T agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GTGTCTCAAGCA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAgtgtctcaagcaAGATCGAGACCCGACGC chr19:49200051-Variant-T;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Variant T agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AGCCAATACGTC CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccTggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAagccaatacgtcAGATCGAGACCCGACGC chr19:49200051-Variant-T;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Reference C agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggaca CACGTAGACGCT CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccCggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAcacgtagacgctAGATCGAGACCCGACGC chr19:49200051-Reference-C;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative A agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GGTGCGTTAATT CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccAggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAggtgcgttaattAGATCGAGACCCGACGC chr19:49200051-Alternative-A;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative G agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggaca ACGCGTATACTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAacgcgtatactaAGATCGAGACCCGACGC chr19:49200051-Alternative-G;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative G agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggaca GTACCGGTAAGG CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAgtaccggtaaggAGATCGAGACCCGACGC chr19:49200051-Alternative-G;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative G agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AGTGTCTGAGAA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAagtgtctgagaaAGATCGAGACCCGACGC chr19:49200051-Alternative-G;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative G agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggaca ACCAACGCATTA CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAaccaacgcattaAGATCGAGACCCGACGC chr19:49200051-Alternative-G;Patient-32 chr19:49200051-CT DeNovo Patient-32 intronic FUT2 NA 0.00016 0.05 3.51 -2.48 FUT2 822 Alternative G agcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggaca AGTGCGCTCGTT CGACGCGGTCTCTCTCTagcgagctcgaggcagtggggtgcgactgagccggatgtgctgagctgccGggggcacggggcggttggggtagagaaaggctttcagagctgggggacaAGAGGGAGACGGACGTCTCAATAAagtgcgctcgttAGATCGAGACCCGACGC chr19:49200051-Alternative-G;Patient-32 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Reference G ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGCCAGTAGGTT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgccagtaggttAGATCGAGACCCGACGC chr19:49974868-Reference-G;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Reference G ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGCACGCATCAA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgcacgcatcaaAGATCGAGACCCGACGC chr19:49974868-Reference-G;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Reference G ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CTCGTAAGGTTA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAActcgtaaggttaAGATCGAGACCCGACGC chr19:49974868-Reference-G;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Reference G ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta AACGACACGGCA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAaacgacacggcaAGATCGAGACCCGACGC chr19:49974868-Reference-G;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative T ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GACGATAGCAAG CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAgacgatagcaagAGATCGAGACCCGACGC chr19:49974868-Alternative-T;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Reference G ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGATTCTCCGGT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcGacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgattctccggtAGATCGAGACCCGACGC chr19:49974868-Reference-G;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative T ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGACGCCGTAAT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgacgccgtaatAGATCGAGACCCGACGC chr19:49974868-Alternative-T;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative T ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGTGACGAACCT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgtgacgaacctAGATCGAGACCCGACGC chr19:49974868-Alternative-T;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Variant A ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta ACGTTCTTACGT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAacgttcttacgtAGATCGAGACCCGACGC chr19:49974868-Variant-A;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative T ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CGACGACCGTTA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAcgacgaccgttaAGATCGAGACCCGACGC chr19:49974868-Alternative-T;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative T ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta ACCGGTAGATCG CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcTacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAaccggtagatcgAGATCGAGACCCGACGC chr19:49974868-Alternative-T;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Variant A ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GTCGACGCGATT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAgtcgacgcgattAGATCGAGACCCGACGC chr19:49974868-Variant-A;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Variant A ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GGCTCTTATATC CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAggctcttatatcAGATCGAGACCCGACGC chr19:49974868-Variant-A;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative C ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GATCCTGAACAT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAgatcctgaacatAGATCGAGACCCGACGC chr19:49974868-Alternative-C;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative C ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta AACGCAGTGACT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAaacgcagtgactAGATCGAGACCCGACGC chr19:49974868-Alternative-C;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative C ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GTGATCTAGCGA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAgtgatctagcgaAGATCGAGACCCGACGC chr19:49974868-Alternative-C;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative C ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta GTAGTCGCACGT CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAgtagtcgcacgtAGATCGAGACCCGACGC chr19:49974868-Alternative-C;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Alternative C ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta AGCGCTAGCAGA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcCacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAagcgctagcagaAGATCGAGACCCGACGC chr19:49974868-Alternative-C;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Variant A ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta AATGTGCTCCAA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAAaatgtgctccaaAGATCGAGACCCGACGC chr19:49974868-Variant-A;Patient-73 chr19:49974868-GA DeNovo Patient-73 intergenic NA 0.000243 -0.42 0.16 -0.23 SLC17A7 30059 Variant A ttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgccta CTAGCGTAATGA CGACGCGGTCTCTCTCTttttaggctgtaatacagtggcgcagtcacagcttactgaacccaccctcAacctgggctcaatcctcccacctcggccgggcgtggtggctcacgcctaAGAGGGAGACGGACGTCTCAATAActagcgtaatgaAGATCGAGACCCGACGC chr19:49974868-Variant-A;Patient-73 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Reference G cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc ACTCTACTCCAA CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAactctactccaaAGATCGAGACCCGACGC chr19:50047103-Reference-G;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Reference G cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GCAGCAATCGTC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgcagcaatcgtcAGATCGAGACCCGACGC chr19:50047103-Reference-G;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Variant A cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GATACTGCATGT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgatactgcatgtAGATCGAGACCCGACGC chr19:50047103-Variant-A;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Variant A cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc AGCACGCTACTA CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAagcacgctactaAGATCGAGACCCGACGC chr19:50047103-Variant-A;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Variant A cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc AACGAGTTCTAC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAaacgagttctacAGATCGAGACCCGACGC chr19:50047103-Variant-A;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Variant A cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc AAGGCTACCAAT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAaaggctaccaatAGATCGAGACCCGACGC chr19:50047103-Variant-A;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative C cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GTGCCGCATATA CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgtgccgcatataAGATCGAGACCCGACGC chr19:50047103-Alternative-C;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Reference G cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc CGTTGCGTGTTC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcgttgcgtgttcAGATCGAGACCCGACGC chr19:50047103-Reference-G;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative C cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GCGGTTGCAATT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgcggttgcaattAGATCGAGACCCGACGC chr19:50047103-Alternative-C;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative T cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc CGTATAGTAACC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcgtatagtaaccAGATCGAGACCCGACGC chr19:50047103-Alternative-T;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative T cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc ACGTCCGGAGAT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAacgtccggagatAGATCGAGACCCGACGC chr19:50047103-Alternative-T;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Variant A cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc AGCAGAAGTTCA CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacAcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAagcagaagttcaAGATCGAGACCCGACGC chr19:50047103-Variant-A;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Reference G cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc ATTGACTAAGCG CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAattgactaagcgAGATCGAGACCCGACGC chr19:50047103-Reference-G;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative T cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc ATCTATCGGCGC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAatctatcggcgcAGATCGAGACCCGACGC chr19:50047103-Alternative-T;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative C cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GGCAAGCTATGG CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAggcaagctatggAGATCGAGACCCGACGC chr19:50047103-Alternative-C;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative C cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc CGGTAGACATCG CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcggtagacatcgAGATCGAGACCCGACGC chr19:50047103-Alternative-C;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative T cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GACTACTCGCAT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAgactactcgcatAGATCGAGACCCGACGC chr19:50047103-Alternative-T;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Reference G cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc ATACCGTGATAC CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacGcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAataccgtgatacAGATCGAGACCCGACGC chr19:50047103-Reference-G;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative C cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc CGAGATGTGCAG CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacCcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAcgagatgtgcagAGATCGAGACCCGACGC chr19:50047103-Alternative-C;Patient-92 chr19:50047103-GA Inherited Patient-92 intergenic 0.000223 0.000159744 -0.09 1.53 -0.55 RRAS 96296 Alternative T cagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtc GGCACCAACGTT CGACGCGGTCTCTCTCTcagtataaaacaaacaaacaaaaaaaattgggccaggcccggtggctcacTcctgtaagcccagcaatttgggaggctgaggcgggtagatcacgaggtcAGAGGGAGACGGACGTCTCAATAAggcaccaacgttAGATCGAGACCCGACGC chr19:50047103-Alternative-T;Patient-92 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative G gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GCATAAGTACGA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgcataagtacgaAGATCGAGACCCGACGC chr19:50204028-Alternative-G;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative G gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CTTGCACACGCT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAActtgcacacgctAGATCGAGACCCGACGC chr19:50204028-Alternative-G;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative G gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc AATAGGCTCCAT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAaataggctccatAGATCGAGACCCGACGC chr19:50204028-Alternative-G;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Variant T gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CTCACGTCCATA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAActcacgtccataAGATCGAGACCCGACGC chr19:50204028-Variant-T;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative G gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CTATTCGCTCGG CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAActattcgctcggAGATCGAGACCCGACGC chr19:50204028-Alternative-G;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Variant T gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CACGAAGGTGGT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAcacgaaggtggtAGATCGAGACCCGACGC chr19:50204028-Variant-T;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Variant T gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GGCTAATTAAGG CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAggctaattaaggAGATCGAGACCCGACGC chr19:50204028-Variant-T;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Variant T gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GTCAGACCATAC CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgtcagaccatacAGATCGAGACCCGACGC chr19:50204028-Variant-T;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative A gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc ATCGTAGCTTCT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAatcgtagcttctAGATCGAGACCCGACGC chr19:50204028-Alternative-A;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Variant T gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GTCCGGAAGCTA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaTgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgtccggaagctaAGATCGAGACCCGACGC chr19:50204028-Variant-T;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative A gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CTTGACAAGGTT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAActtgacaaggttAGATCGAGACCCGACGC chr19:50204028-Alternative-A;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Reference C gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc AGGAACGTAAGT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAaggaacgtaagtAGATCGAGACCCGACGC chr19:50204028-Reference-C;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Reference C gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc CTATCAACGAAC CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAActatcaacgaacAGATCGAGACCCGACGC chr19:50204028-Reference-C;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Reference C gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc AGGAAGTTCTGA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAaggaagttctgaAGATCGAGACCCGACGC chr19:50204028-Reference-C;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative G gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc ACCTTCGTGTTA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaGgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAaccttcgtgttaAGATCGAGACCCGACGC chr19:50204028-Alternative-G;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative A gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GTTGTTACGTCA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgttgttacgtcaAGATCGAGACCCGACGC chr19:50204028-Alternative-A;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative A gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc ATTAACCGGTCA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAattaaccggtcaAGATCGAGACCCGACGC chr19:50204028-Alternative-A;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Alternative A gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GAGTTAGGAACA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaAgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgagttaggaacaAGATCGAGACCCGACGC chr19:50204028-Alternative-A;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Reference C gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc GCATCGAGCACA CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAgcatcgagcacaAGATCGAGACCCGACGC chr19:50204028-Reference-C;Patient-71 chr19:50204028-CT DeNovo Patient-71 synonymous CPT1C 4e-06 9.86e-05 0.55 9.88 -0.26 CPT1C 9662 Reference C gccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagcccc AGCTTGTAGTGT CGACGCGGTCTCTCTCTgccgcgctgtttgcctcgtgtttgtggggagccctgatcttcacactgcaCgtggccctgaggctgcttctgtcctaccacggctggcttcttgagccccAGAGGGAGACGGACGTCTCAATAAagcttgtagtgtAGATCGAGACCCGACGC chr19:50204028-Reference-C;Patient-71 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative C gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta ATACGTGTTCCT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAatacgtgttcctAGATCGAGACCCGACGC chr19:50227109-Alternative-C;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative C gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GTTATTACGCGT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAgttattacgcgtAGATCGAGACCCGACGC chr19:50227109-Alternative-C;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Reference A gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GGTTCGTGGTCA CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAggttcgtggtcaAGATCGAGACCCGACGC chr19:50227109-Reference-A;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative C gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GGCTTACTCAAT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAggcttactcaatAGATCGAGACCCGACGC chr19:50227109-Alternative-C;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Reference A gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta ATACTTGTTCGG CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAatacttgttcggAGATCGAGACCCGACGC chr19:50227109-Reference-A;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative T gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta CATGACGCGAGA CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAcatgacgcgagaAGATCGAGACCCGACGC chr19:50227109-Alternative-T;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Reference A gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta AATACGGTACCT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAaatacggtacctAGATCGAGACCCGACGC chr19:50227109-Reference-A;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative T gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta AGTATCACGTGT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAagtatcacgtgtAGATCGAGACCCGACGC chr19:50227109-Alternative-T;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Reference A gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta ACGAACGATCTT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAacgaacgatcttAGATCGAGACCCGACGC chr19:50227109-Reference-A;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative T gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta ACGTCGCGTAGA CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAacgtcgcgtagaAGATCGAGACCCGACGC chr19:50227109-Alternative-T;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative T gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GATGTAGTGCGG CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAgatgtagtgcggAGATCGAGACCCGACGC chr19:50227109-Alternative-T;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative T gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GGATACCATAAG CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccTctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAggataccataagAGATCGAGACCCGACGC chr19:50227109-Alternative-T;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Reference A gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta CTTAACGAACCT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccActgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAActtaacgaacctAGATCGAGACCCGACGC chr19:50227109-Reference-A;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative C gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GTGTTCGGATAT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAgtgttcggatatAGATCGAGACCCGACGC chr19:50227109-Alternative-C;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Variant G gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta AGGAATGGCGCT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAaggaatggcgctAGATCGAGACCCGACGC chr19:50227109-Variant-G;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Variant G gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta CATCTCCGTGGT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAcatctccgtggtAGATCGAGACCCGACGC chr19:50227109-Variant-G;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Variant G gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta CATCGGTACTAT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAcatcggtactatAGATCGAGACCCGACGC chr19:50227109-Variant-G;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Alternative C gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GAGCTAACTAAC CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccCctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAgagctaactaacAGATCGAGACCCGACGC chr19:50227109-Alternative-C;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Variant G gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta AGTAGCGGCGAT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAagtagcggcgatAGATCGAGACCCGACGC chr19:50227109-Variant-G;Patient-57 chr19:50227109-AG DeNovo Patient-57 intergenic 0.000736 0.000730282 0.12 4.52 0 CPT1C 32743 Variant G gaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaacta GGCTAGTCGGAT CGACGCGGTCTCTCTCTgaatcgctggaacctgggaggaagaggttgcagtgggcagagatggcgccGctgcactccagcctgggtgacagagcaagacttcatctcaaaaaaactaAGAGGGAGACGGACGTCTCAATAAggctagtcggatAGATCGAGACCCGACGC chr19:50227109-Variant-G;Patient-57 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative C tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat CACTTAGCCACG CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAcacttagccacgAGATCGAGACCCGACGC chr19:50767514-Alternative-C;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative C tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GATGGACGGAGA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgatggacggagaAGATCGAGACCCGACGC chr19:50767514-Alternative-C;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative T tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat CATTAGCAAGCT CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAcattagcaagctAGATCGAGACCCGACGC chr19:50767514-Alternative-T;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Variant G tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GTCAACACAGAT CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgtcaacacagatAGATCGAGACCCGACGC chr19:50767514-Variant-G;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Variant G tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AGGCTAGGATCG CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAaggctaggatcgAGATCGAGACCCGACGC chr19:50767514-Variant-G;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative T tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GTTAGCATACCA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgttagcataccaAGATCGAGACCCGACGC chr19:50767514-Alternative-T;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Reference A tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GGAGAACGGAGT CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAggagaacggagtAGATCGAGACCCGACGC chr19:50767514-Reference-A;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative T tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GCGTTCCGTAGA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgcgttccgtagaAGATCGAGACCCGACGC chr19:50767514-Alternative-T;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative T tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat ATTGTGCTCCTA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAattgtgctcctaAGATCGAGACCCGACGC chr19:50767514-Alternative-T;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Reference A tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AGCCACGCGATA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAagccacgcgataAGATCGAGACCCGACGC chr19:50767514-Reference-A;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative T tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AGCGGTAACGTC CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccTgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAagcggtaacgtcAGATCGAGACCCGACGC chr19:50767514-Alternative-T;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative C tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GATTCCTGTTCA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgattcctgttcaAGATCGAGACCCGACGC chr19:50767514-Alternative-C;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Reference A tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AGCCTTACTCTA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAagccttactctaAGATCGAGACCCGACGC chr19:50767514-Reference-A;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Reference A tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat CGTTACAACGCA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAcgttacaacgcaAGATCGAGACCCGACGC chr19:50767514-Reference-A;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative C tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AACACGATACAG CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAaacacgatacagAGATCGAGACCCGACGC chr19:50767514-Alternative-C;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Variant G tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AACGATGTGGAT CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAaacgatgtggatAGATCGAGACCCGACGC chr19:50767514-Variant-G;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Alternative C tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat GCGCGTCGAATA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccCgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAgcgcgtcgaataAGATCGAGACCCGACGC chr19:50767514-Alternative-C;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Variant G tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat AATAGCCGTCTA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAaatagccgtctaAGATCGAGACCCGACGC chr19:50767514-Variant-G;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Reference A tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat CTTGCCTCTGAG CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccAgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAActtgcctctgagAGATCGAGACCCGACGC chr19:50767514-Reference-A;Patient-39 chr19:50767514-AG DeNovo Patient-39 intronic MYH14 NA 4.95e-05 0.04 3.2 0 MYH14 60628 Variant G tatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacat ATTAACGTCGCA CGACGCGGTCTCTCTCTtatgcacggagtattgccaaccagggaagctcacctgagccttgatgtccGgcgtttttcctggggctggtcacacaggcatggacaaggtcacacacatAGAGGGAGACGGACGTCTCAATAAattaacgtcgcaAGATCGAGACCCGACGC chr19:50767514-Variant-G;Patient-39 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative G ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GCGTTACGCTGA CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgcgttacgctgaAGATCGAGACCCGACGC chr19:52264449-Alternative-G;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative G ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTGTCTCATGTT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgtgtctcatgttAGATCGAGACCCGACGC chr19:52264449-Alternative-G;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative T ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTTGAGCTTACA CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgttgagcttacaAGATCGAGACCCGACGC chr19:52264449-Alternative-T;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative G ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GACGTCGACATC CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgacgtcgacatcAGATCGAGACCCGACGC chr19:52264449-Alternative-G;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative T ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg CAGATATCGTGG CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAcagatatcgtggAGATCGAGACCCGACGC chr19:52264449-Alternative-T;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative T ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg CTCTCGATTCAT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAActctcgattcatAGATCGAGACCCGACGC chr19:52264449-Alternative-T;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative T ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg CTTACGCACGCT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAActtacgcacgctAGATCGAGACCCGACGC chr19:52264449-Alternative-T;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative G ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTCAAGCTAACA CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgtcaagctaacaAGATCGAGACCCGACGC chr19:52264449-Alternative-G;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Variant A ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg ACTTCTGGCTTA CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAacttctggcttaAGATCGAGACCCGACGC chr19:52264449-Variant-A;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative T ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg ACACGTTCTCAT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagTcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAacacgttctcatAGATCGAGACCCGACGC chr19:52264449-Alternative-T;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Reference C ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg CGTTATAGCGGC CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAcgttatagcggcAGATCGAGACCCGACGC chr19:52264449-Reference-C;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Alternative G ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg AGATGCAGGATT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagGcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAagatgcaggattAGATCGAGACCCGACGC chr19:52264449-Alternative-G;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Variant A ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTATCAACTGGT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgtatcaactggtAGATCGAGACCCGACGC chr19:52264449-Variant-A;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Reference C ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg AGTAGGTGACCG CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAagtaggtgaccgAGATCGAGACCCGACGC chr19:52264449-Reference-C;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Reference C ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTGCTACCGAAG CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgtgctaccgaagAGATCGAGACCCGACGC chr19:52264449-Reference-C;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Variant A ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GCCTGGATAATT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgcctggataattAGATCGAGACCCGACGC chr19:52264449-Variant-A;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Reference C ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg AAGCAGGTGTCG CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAaagcaggtgtcgAGATCGAGACCCGACGC chr19:52264449-Reference-C;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Variant A ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg GTAGTAACGAAG CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAgtagtaacgaagAGATCGAGACCCGACGC chr19:52264449-Variant-A;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Variant A ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg AGGACTTCCAGT CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagAcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAaggacttccagtAGATCGAGACCCGACGC chr19:52264449-Variant-A;Patient-30 chr19:52264449-CA Inherited Patient-30 intergenic 0.000159 0.00016 NA NA NA FPR2 3 Reference C ttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactg CAAGTACCGCAA CGACGCGGTCTCTCTCTttcagtagtctccgcgaaagcccttagagccggtgttgctccacaggaagCcaagaagcacacaggaaaaggagcttagctgctggtaagttggggactgAGAGGGAGACGGACGTCTCAATAAcaagtaccgcaaAGATCGAGACCCGACGC chr19:52264449-Reference-C;Patient-30 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative G ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CTTGGTGGCGTT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAActtggtggcgttAGATCGAGACCCGACGC chr19:524231-Alternative-G;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative G ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CGATCCGTTACA CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcgatccgttacaAGATCGAGACCCGACGC chr19:524231-Alternative-G;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Variant C ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga AAGTCGGATTCT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAaagtcggattctAGATCGAGACCCGACGC chr19:524231-Variant-C;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Variant C ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CTACGTTGCATT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAActacgttgcattAGATCGAGACCCGACGC chr19:524231-Variant-C;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative G ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CATAACTAAGCG CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcataactaagcgAGATCGAGACCCGACGC chr19:524231-Alternative-G;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative G ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga AGCACCTCTTCG CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAagcacctcttcgAGATCGAGACCCGACGC chr19:524231-Alternative-G;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Variant C ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CGCTACCGTGTT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcgctaccgtgttAGATCGAGACCCGACGC chr19:524231-Variant-C;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative G ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CTCGCTGTTATA CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccGgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAActcgctgttataAGATCGAGACCCGACGC chr19:524231-Alternative-G;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Reference T ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CATTACGACGAT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcattacgacgatAGATCGAGACCCGACGC chr19:524231-Reference-T;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Reference T ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CATTACCATGCT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcattaccatgctAGATCGAGACCCGACGC chr19:524231-Reference-T;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Variant C ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga GAGATAAGTAGG CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAgagataagtaggAGATCGAGACCCGACGC chr19:524231-Variant-C;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Variant C ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga GTGACGAGGTGT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccCgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAgtgacgaggtgtAGATCGAGACCCGACGC chr19:524231-Variant-C;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Reference T ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga AAGTCGCTCGCA CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAaagtcgctcgcaAGATCGAGACCCGACGC chr19:524231-Reference-T;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Reference T ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CGCTAGTGCGAT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcgctagtgcgatAGATCGAGACCCGACGC chr19:524231-Reference-T;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Reference T ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CTAGGCTCGACT CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccTgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAActaggctcgactAGATCGAGACCCGACGC chr19:524231-Reference-T;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative A ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga AATGACTCGCTA CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAaatgactcgctaAGATCGAGACCCGACGC chr19:524231-Alternative-A;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative A ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CGTTACTAACAG CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcgttactaacagAGATCGAGACCCGACGC chr19:524231-Alternative-A;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative A ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga GAGATGCCGTAC CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAgagatgccgtacAGATCGAGACCCGACGC chr19:524231-Alternative-A;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative A ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CAGACTCGTCAA CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcagactcgtcaaAGATCGAGACCCGACGC chr19:524231-Alternative-A;Patient-104 chr19:524231-TC DeNovo Patient-104 intergenic 0.000128 0.000947867 -0.1 1.4 -0.09 CDC34 7501 Alternative A ccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgagga CGGCGATATCAG CGACGCGGTCTCTCTCTccgaccgaagcccacctcccctgccccgcccagctccccggggcctccccAgatccctgaccctgtgccgcccactgtgcccgccctcaggtcccgaggaAGAGGGAGACGGACGTCTCAATAAcggcgatatcagAGATCGAGACCCGACGC chr19:524231-Alternative-A;Patient-104 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative T cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GTGAACGTTCAC CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAgtgaacgttcacAGATCGAGACCCGACGC chr19:54424884-Alternative-T;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative T cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CTAGAGAGTAGT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAActagagagtagtAGATCGAGACCCGACGC chr19:54424884-Alternative-T;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative T cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg AGTGCTCGAACC CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAagtgctcgaaccAGATCGAGACCCGACGC chr19:54424884-Alternative-T;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative A cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CATCGAACGTAT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAcatcgaacgtatAGATCGAGACCCGACGC chr19:54424884-Alternative-A;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative T cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GAAGAGATAGCA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAgaagagatagcaAGATCGAGACCCGACGC chr19:54424884-Alternative-T;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Reference G cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CGGAATCAACTT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAcggaatcaacttAGATCGAGACCCGACGC chr19:54424884-Reference-G;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative A cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CTGTTAATCCGA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAActgttaatccgaAGATCGAGACCCGACGC chr19:54424884-Alternative-A;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Reference G cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg AGATATGCCGAT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAagatatgccgatAGATCGAGACCCGACGC chr19:54424884-Reference-G;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative T cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg AGTCGGATAACA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaTtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAagtcggataacaAGATCGAGACCCGACGC chr19:54424884-Alternative-T;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Variant C cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg ACGTCGTTCAGA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAacgtcgttcagaAGATCGAGACCCGACGC chr19:54424884-Variant-C;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Variant C cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GGTCGTCCTTGT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAggtcgtccttgtAGATCGAGACCCGACGC chr19:54424884-Variant-C;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Reference G cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GCGGTGTTCTAC CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAgcggtgttctacAGATCGAGACCCGACGC chr19:54424884-Reference-G;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Variant C cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg AAGATATAGGCG CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAaagatataggcgAGATCGAGACCCGACGC chr19:54424884-Variant-C;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative A cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CGAACGCAGCAA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAcgaacgcagcaaAGATCGAGACCCGACGC chr19:54424884-Alternative-A;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Reference G cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg ACAACGTCTTGA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAacaacgtcttgaAGATCGAGACCCGACGC chr19:54424884-Reference-G;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative A cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GACGTACGGTCT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAgacgtacggtctAGATCGAGACCCGACGC chr19:54424884-Alternative-A;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Variant C cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg ATACAACCGCCA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAatacaaccgccaAGATCGAGACCCGACGC chr19:54424884-Variant-C;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Alternative A cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg ACCGAATCAACC CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaAtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAaccgaatcaaccAGATCGAGACCCGACGC chr19:54424884-Alternative-A;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Variant C cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg GTACTCTCAACT CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaCtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAgtactctcaactAGATCGAGACCCGACGC chr19:54424884-Variant-C;Patient-100 chr19:54424884-GC DeNovo Patient-100 intronic CACNG7 0.000508 0.00169 0.03 3.13 0 CACNG7 8892 Reference G cccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattg CGGAAGCGGATA CGACGCGGTCTCTCTCTcccaggtctggtcattggtggagtcgtccccaggtctggtcattggtggaGtcgtccccaggtctggtcattggtggacttgccccaggtctggtcattgAGAGGGAGACGGACGTCTCAATAAcggaagcggataAGATCGAGACCCGACGC chr19:54424884-Reference-G;Patient-100 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative C gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CTAGGCCGATGA CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAActaggccgatgaAGATCGAGACCCGACGC chr19:54685882-Alternative-C;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Reference G gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag AACCGACTAGAT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAaaccgactagatAGATCGAGACCCGACGC chr19:54685882-Reference-G;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative C gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag ACAGACGGTTCG CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAacagacggttcgAGATCGAGACCCGACGC chr19:54685882-Alternative-C;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Variant A gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CACTGTATTCGT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAcactgtattcgtAGATCGAGACCCGACGC chr19:54685882-Variant-A;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Variant A gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag GCCGATGTTCGT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAgccgatgttcgtAGATCGAGACCCGACGC chr19:54685882-Variant-A;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Reference G gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CGCAATAAGACA CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAcgcaataagacaAGATCGAGACCCGACGC chr19:54685882-Reference-G;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative C gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag GTCAGGTTGCAC CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAgtcaggttgcacAGATCGAGACCCGACGC chr19:54685882-Alternative-C;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Reference G gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag GTTCGCGTCGTT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAgttcgcgtcgttAGATCGAGACCCGACGC chr19:54685882-Reference-G;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative T gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag ACGATGAAGCCA CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAacgatgaagccaAGATCGAGACCCGACGC chr19:54685882-Alternative-T;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Reference G gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CTTGGTCTATGG CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAActtggtctatggAGATCGAGACCCGACGC chr19:54685882-Reference-G;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative T gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag ACACCACGAACC CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAacaccacgaaccAGATCGAGACCCGACGC chr19:54685882-Alternative-T;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative T gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag GTAGATGCGACG CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAgtagatgcgacgAGATCGAGACCCGACGC chr19:54685882-Alternative-T;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Variant A gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CTCATGCTCACG CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAActcatgctcacgAGATCGAGACCCGACGC chr19:54685882-Variant-A;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative T gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag AACCGCCTAAGG CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAaaccgcctaaggAGATCGAGACCCGACGC chr19:54685882-Alternative-T;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Variant A gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CAGCTTGATCTT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAcagcttgatcttAGATCGAGACCCGACGC chr19:54685882-Variant-A;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative T gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag AGCTCTTAACGA CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaTggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAagctcttaacgaAGATCGAGACCCGACGC chr19:54685882-Alternative-T;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative C gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag AGTGTTAGCGGC CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAagtgttagcggcAGATCGAGACCCGACGC chr19:54685882-Alternative-C;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Variant A gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag AGCCTGCGATGT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaAggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAagcctgcgatgtAGATCGAGACCCGACGC chr19:54685882-Variant-A;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Reference G gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag ACCAACAGCATC CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaGggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAaccaacagcatcAGATCGAGACCCGACGC chr19:54685882-Reference-G;Patient-111 chr19:54685882-GA Inherited Patient-111 intronic MBOAT7 NA 0.000241476 -0.26 0.46 -1.4 MBOAT7 7850 Alternative C gaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaag CGATCCGAGCAT CGACGCGGTCTCTCTCTgaaggagggagggaaggagggaaggaaggagggagggaaggaaggagggaCggaaggagggaaggaaggagggagggaaggaaggagggaaggaaggaagAGAGGGAGACGGACGTCTCAATAAcgatccgagcatAGATCGAGACCCGACGC chr19:54685882-Alternative-C;Patient-111 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Reference C ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc GGCTTATCCGCT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAggcttatccgctAGATCGAGACCCGACGC chr19:550848-Reference-C;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Reference C ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc AGTCTCTGCGAA CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAagtctctgcgaaAGATCGAGACCCGACGC chr19:550848-Reference-C;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Reference C ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTACCGACACAT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActaccgacacatAGATCGAGACCCGACGC chr19:550848-Reference-C;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Reference C ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc AGAGTAATCGAC CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAagagtaatcgacAGATCGAGACCCGACGC chr19:550848-Reference-C;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Reference C ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc GCGGCAAGAGTT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaCcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAgcggcaagagttAGATCGAGACCCGACGC chr19:550848-Reference-C;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative A ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc ACGTCTATGCCT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAacgtctatgcctAGATCGAGACCCGACGC chr19:550848-Alternative-A;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Variant G ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTGGCGTTATGG CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActggcgttatggAGATCGAGACCCGACGC chr19:550848-Variant-G;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Variant G ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTTGATGCTCAT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActtgatgctcatAGATCGAGACCCGACGC chr19:550848-Variant-G;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Variant G ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CAGCTCGTTCAC CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAcagctcgttcacAGATCGAGACCCGACGC chr19:550848-Variant-G;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative T ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc ATAGGAGTTGGT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAataggagttggtAGATCGAGACCCGACGC chr19:550848-Alternative-T;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative A ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTGCATCACGCT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActgcatcacgctAGATCGAGACCCGACGC chr19:550848-Alternative-A;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative A ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CGAGATCTGTCG CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAcgagatctgtcgAGATCGAGACCCGACGC chr19:550848-Alternative-A;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative T ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc AGAGTACGGATA CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAagagtacggataAGATCGAGACCCGACGC chr19:550848-Alternative-T;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Variant G ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTGAACGGAGCA CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActgaacggagcaAGATCGAGACCCGACGC chr19:550848-Variant-G;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative T ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc GTGTTGGTCCGA CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAgtgttggtccgaAGATCGAGACCCGACGC chr19:550848-Alternative-T;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative A ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc CTATATCCGTGT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAActatatccgtgtAGATCGAGACCCGACGC chr19:550848-Alternative-A;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative T ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc AGAGTACGTAGT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAagagtacgtagtAGATCGAGACCCGACGC chr19:550848-Alternative-T;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Variant G ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc AATAAGCCGCAG CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaGcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAaataagccgcagAGATCGAGACCCGACGC chr19:550848-Variant-G;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative T ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc GTACGCATCGGT CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaTcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAgtacgcatcggtAGATCGAGACCCGACGC chr19:550848-Alternative-T;Patient-21 chr19:550848-CG DeNovo Patient-21 intergenic 0.000458 0.00513 0.04 3.3 -0.88 BSG 20428 Alternative A ctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagc GGATGCTCGCTA CGACGCGGTCTCTCTCTctgtcaccccagcaccccgaaaacaggcctgtccccctgtcaccccagcaAcccgaaaacaggcctgtccccactgtcaccccagcaccccgaaaacagcAGAGGGAGACGGACGTCTCAATAAggatgctcgctaAGATCGAGACCCGACGC chr19:550848-Alternative-A;Patient-21 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Variant C accatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CGCGTACCAAGA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcgcgtaccaagaAGATCGAGACCCGACGC chr19:55633815-Variant-C;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Variant C accatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GTGTTATGACCA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAgtgttatgaccaAGATCGAGACCCGACGC chr19:55633815-Variant-C;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative T accatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GGTAGTAGGTAA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAggtagtaggtaaAGATCGAGACCCGACGC chr19:55633815-Alternative-T;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Variant C accatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CGAATGGTGATA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcgaatggtgataAGATCGAGACCCGACGC chr19:55633815-Variant-C;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative T accatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GGCTCTAAGGCA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAggctctaaggcaAGATCGAGACCCGACGC chr19:55633815-Alternative-T;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Variant C accatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc AACACAGCGTGT CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAaacacagcgtgtAGATCGAGACCCGACGC chr19:55633815-Variant-C;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative T accatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc AGATCCAACCTA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAagatccaacctaAGATCGAGACCCGACGC chr19:55633815-Alternative-T;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative G accatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GTACCTCTCACG CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAgtacctctcacgAGATCGAGACCCGACGC chr19:55633815-Alternative-G;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative G accatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CTACGAACATGA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAActacgaacatgaAGATCGAGACCCGACGC chr19:55633815-Alternative-G;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative G accatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CATAAGGTACGA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcataaggtacgaAGATCGAGACCCGACGC chr19:55633815-Alternative-G;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative G accatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GACCGTCGAGTT CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAgaccgtcgagttAGATCGAGACCCGACGC chr19:55633815-Alternative-G;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative T accatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc ATCGATGTATGG CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAatcgatgtatggAGATCGAGACCCGACGC chr19:55633815-Alternative-T;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative T accatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CGTACTCACGTC CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactTtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcgtactcacgtcAGATCGAGACCCGACGC chr19:55633815-Alternative-T;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Reference A accatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CAATGGAATCAG CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcaatggaatcagAGATCGAGACCCGACGC chr19:55633815-Reference-A;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Reference A accatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CACGGTGCGATA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcacggtgcgataAGATCGAGACCCGACGC chr19:55633815-Reference-A;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Reference A accatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc AACGATTGCCAT CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAaacgattgccatAGATCGAGACCCGACGC chr19:55633815-Reference-A;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Alternative G accatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CGGAGCTACAAC CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactGtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcggagctacaacAGATCGAGACCCGACGC chr19:55633815-Alternative-G;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Reference A accatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc AATACCACCTGA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAaataccacctgaAGATCGAGACCCGACGC chr19:55633815-Reference-A;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Variant C accatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc GTCTCGACGCAA CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactCtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAgtctcgacgcaaAGATCGAGACCCGACGC chr19:55633815-Variant-C;Patient-59 chr19:55633815-AC DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.41 0.13 PPP1R12C 4846 Reference A accatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgcc CGACTTAGTAAG CGACGCGGTCTCTCTCTaccatgcctggctactttttgtgtgttttcagtagagatggggtttcactAtgctgaccaggctggtcttgaactcctggcctcaagtgatccacccgccAGAGGGAGACGGACGTCTCAATAAcgacttagtaagAGATCGAGACCCGACGC chr19:55633815-Reference-A;Patient-59 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Reference G tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcact AGGCAATCGTGG CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAaggcaatcgtggAGATCGAGACCCGACGC chr19:56215569-Reference-G;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Reference G tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GAGCAGTTGACG CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAgagcagttgacgAGATCGAGACCCGACGC chr19:56215569-Reference-G;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative T tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CAGACGGCCTTA CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcagacggccttaAGATCGAGACCCGACGC chr19:56215569-Alternative-T;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative T tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcact AGCGTATGACTT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAagcgtatgacttAGATCGAGACCCGACGC chr19:56215569-Alternative-T;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative T tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcact AAGATCCTTCGA CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAaagatccttcgaAGATCGAGACCCGACGC chr19:56215569-Alternative-T;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative A tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CTTAACGGCACG CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAActtaacggcacgAGATCGAGACCCGACGC chr19:56215569-Alternative-A;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Variant C tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcact AAGTAGCTTGTC CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAaagtagcttgtcAGATCGAGACCCGACGC chr19:56215569-Variant-C;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative T tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CAGCTCACAACG CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcagctcacaacgAGATCGAGACCCGACGC chr19:56215569-Alternative-T;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative A tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CGATTGACGACC CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcgattgacgaccAGATCGAGACCCGACGC chr19:56215569-Alternative-A;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative T tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GCGAACACATAA CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccTccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAgcgaacacataaAGATCGAGACCCGACGC chr19:56215569-Alternative-T;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Variant C tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GTTGAACGCTAT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAgttgaacgctatAGATCGAGACCCGACGC chr19:56215569-Variant-C;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Variant C tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcact AAGGACGACAGT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAaaggacgacagtAGATCGAGACCCGACGC chr19:56215569-Variant-C;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative A tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CGTAGGTACATT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcgtaggtacattAGATCGAGACCCGACGC chr19:56215569-Alternative-A;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Variant C tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GGACAGTCGTCT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAggacagtcgtctAGATCGAGACCCGACGC chr19:56215569-Variant-C;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Variant C tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcact ACGCCACTTATT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccCccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAacgccacttattAGATCGAGACCCGACGC chr19:56215569-Variant-C;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative A tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CGGATCGCTGAT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcggatcgctgatAGATCGAGACCCGACGC chr19:56215569-Alternative-A;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Alternative A tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CGAACGTAATGA CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccAccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcgaacgtaatgaAGATCGAGACCCGACGC chr19:56215569-Alternative-A;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Reference G tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GTGAGGATTCTT CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAgtgaggattcttAGATCGAGACCCGACGC chr19:56215569-Reference-G;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Reference G tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcact CAGCGATATAGA CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAcagcgatatagaAGATCGAGACCCGACGC chr19:56215569-Reference-G;Patient-81 chr19:56215569-GC DeNovo Patient-81 intergenic 9.6e-05 0.001025641 0 2.55 0.24 EPN1 29007 Reference G tagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcact GATTCGGAATCG CGACGCGGTCTCTCTCTtagacggcacgtgctctccacgctctttctccagcgccccttgctcacccGccccccgttggagtggcccatcctctccgcttagacacctgcagtcactAGAGGGAGACGGACGTCTCAATAAgattcggaatcgAGATCGAGACCCGACGC chr19:56215569-Reference-G;Patient-81 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative A gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CACGAATTGCAT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcacgaattgcatAGATCGAGACCCGACGC chr19:5662283-Alternative-A;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative A gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcaga GTTGTGGTATGT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAgttgtggtatgtAGATCGAGACCCGACGC chr19:5662283-Alternative-A;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Variant T gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ATTGAGGACACT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAattgaggacactAGATCGAGACCCGACGC chr19:5662283-Variant-T;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative A gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ATTCCGAGTAGT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAattccgagtagtAGATCGAGACCCGACGC chr19:5662283-Alternative-A;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative A gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcaga GCAGCTGGTATC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAgcagctggtatcAGATCGAGACCCGACGC chr19:5662283-Alternative-A;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative G gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CATCTGACTATC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcatctgactatcAGATCGAGACCCGACGC chr19:5662283-Alternative-G;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative G gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CGAGGTACGTAT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcgaggtacgtatAGATCGAGACCCGACGC chr19:5662283-Alternative-G;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Reference C gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ACCGAACACGTC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAaccgaacacgtcAGATCGAGACCCGACGC chr19:5662283-Reference-C;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative A gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ATCGGTGTTAGT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggAggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAatcggtgttagtAGATCGAGACCCGACGC chr19:5662283-Alternative-A;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Reference C gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CGGACCTACAAG CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcggacctacaagAGATCGAGACCCGACGC chr19:5662283-Reference-C;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Variant T gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ATAGCCGATAAG CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAatagccgataagAGATCGAGACCCGACGC chr19:5662283-Variant-T;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Reference C gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CGCCGGTGATAA CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcgccggtgataaAGATCGAGACCCGACGC chr19:5662283-Reference-C;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative G gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcaga GAAGTGTTCGGC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAgaagtgttcggcAGATCGAGACCCGACGC chr19:5662283-Alternative-G;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Reference C gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CACGGTTCCAAC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcacggttccaacAGATCGAGACCCGACGC chr19:5662283-Reference-C;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative G gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CGCTACACCTTA CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcgctacaccttaAGATCGAGACCCGACGC chr19:5662283-Alternative-G;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Reference C gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcaga GCAACTCTTCGT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggCggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAgcaactcttcgtAGATCGAGACCCGACGC chr19:5662283-Reference-C;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Variant T gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcaga ACTCTGGCTGGT CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAactctggctggtAGATCGAGACCCGACGC chr19:5662283-Variant-T;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Variant T gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcaga GTCGCATAATCA CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAgtcgcataatcaAGATCGAGACCCGACGC chr19:5662283-Variant-T;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Alternative G gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CGAACGTTGCAC CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggGggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAAcgaacgttgcacAGATCGAGACCCGACGC chr19:5662283-Alternative-G;Patient-77 chr19:5662283-CT DeNovo Patient-77 intronic SAFB NA 4.95e-05 NA NA NA RPL36 27988 Variant T gtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcaga CTAGGTCGCGAA CGACGCGGTCTCTCTCTgtgcgctagttcacgcctgtaatcctaacattttgggaggccagggtgggTggattgccttagctcaggagttgaagaccagcctggccaacatggcagaAGAGGGAGACGGACGTCTCAATAActaggtcgcgaaAGATCGAGACCCGACGC chr19:5662283-Variant-T;Patient-77 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative C gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat ACTACCAACACG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAactaccaacacgAGATCGAGACCCGACGC chr19:56657129-Alternative-C;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative C gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GTTGGCATCCGA CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAgttggcatccgaAGATCGAGACCCGACGC chr19:56657129-Alternative-C;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative C gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AACCGTGGACAG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAaaccgtggacagAGATCGAGACCCGACGC chr19:56657129-Alternative-C;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative C gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGGCGAGCGAAT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAaggcgagcgaatAGATCGAGACCCGACGC chr19:56657129-Alternative-C;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative C gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGGAATATGGCG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccCtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAaggaatatggcgAGATCGAGACCCGACGC chr19:56657129-Alternative-C;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Variant A gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat ACGCAGAGATGT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAacgcagagatgtAGATCGAGACCCGACGC chr19:56657129-Variant-A;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Variant A gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGTCGTGCAGCT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAagtcgtgcagctAGATCGAGACCCGACGC chr19:56657129-Variant-A;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Variant A gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGTGCGCATGGT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAagtgcgcatggtAGATCGAGACCCGACGC chr19:56657129-Variant-A;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Variant A gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AATGCTATGACC CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAaatgctatgaccAGATCGAGACCCGACGC chr19:56657129-Variant-A;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Variant A gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat ATTGTAATGCCG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccAtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAattgtaatgccgAGATCGAGACCCGACGC chr19:56657129-Variant-A;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative T gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GCGAACACCGAA CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAgcgaacaccgaaAGATCGAGACCCGACGC chr19:56657129-Alternative-T;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative T gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGACGGTCGGAT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAagacggtcggatAGATCGAGACCCGACGC chr19:56657129-Alternative-T;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative T gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat CAACAAGACCGT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAcaacaagaccgtAGATCGAGACCCGACGC chr19:56657129-Alternative-T;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative T gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat ATCGTCACCGAT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAatcgtcaccgatAGATCGAGACCCGACGC chr19:56657129-Alternative-T;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Alternative T gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GTCGCCTATAAG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccTtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAgtcgcctataagAGATCGAGACCCGACGC chr19:56657129-Alternative-T;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Reference G gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GCGATAACGTGG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAgcgataacgtggAGATCGAGACCCGACGC chr19:56657129-Reference-G;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Reference G gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AGTACTTACCGA CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAagtacttaccgaAGATCGAGACCCGACGC chr19:56657129-Reference-G;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Reference G gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GATATAGGCGCG CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAgatataggcgcgAGATCGAGACCCGACGC chr19:56657129-Reference-G;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Reference G gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat GGTATCGTAAGA CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAggtatcgtaagaAGATCGAGACCCGACGC chr19:56657129-Reference-G;Patient-30 chr19:56657129-GA Inherited Patient-30 intronic ZNF444 0.000669 0.00016 NA NA NA ZNF444 4593 Reference G gtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttat AACAACGTCGTT CGACGCGGTCTCTCTCTgtgctggcacccagatcgcaaattcccagcggaagggactgggacaggccGtcatagctgtcatagcggagcaccgtggactgaactgctatgagcttatAGAGGGAGACGGACGTCTCAATAAaacaacgtcgttAGATCGAGACCCGACGC chr19:56657129-Reference-G;Patient-30 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Variant A gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GACTAGTTCTGA CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgactagttctgaAGATCGAGACCCGACGC chr19:5691983-Variant-A;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative T gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GACTAGTCGATT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgactagtcgattAGATCGAGACCCGACGC chr19:5691983-Alternative-T;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Variant A gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GCGAGATACGGT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgcgagatacggtAGATCGAGACCCGACGC chr19:5691983-Variant-A;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative C gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc AACGCTAGCGTC CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAaacgctagcgtcAGATCGAGACCCGACGC chr19:5691983-Alternative-C;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Variant A gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc CTAAGGTCGGTT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAActaaggtcggttAGATCGAGACCCGACGC chr19:5691983-Variant-A;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Variant A gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc AGATCAGCGGCA CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAagatcagcggcaAGATCGAGACCCGACGC chr19:5691983-Variant-A;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative T gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc CAACTAGGCCGA CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAcaactaggccgaAGATCGAGACCCGACGC chr19:5691983-Alternative-T;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative C gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc CGTCAAGCGGAT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAcgtcaagcggatAGATCGAGACCCGACGC chr19:5691983-Alternative-C;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Variant A gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc CGGTAATCGTAC CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaAcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAcggtaatcgtacAGATCGAGACCCGACGC chr19:5691983-Variant-A;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Reference G gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc AGTTCTAGCGTT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAagttctagcgttAGATCGAGACCCGACGC chr19:5691983-Reference-G;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative C gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GTGTAATACCGT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgtgtaataccgtAGATCGAGACCCGACGC chr19:5691983-Alternative-C;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative T gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc AGCTGACGTCGT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAagctgacgtcgtAGATCGAGACCCGACGC chr19:5691983-Alternative-T;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Reference G gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GCGGTATAGCAT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgcggtatagcatAGATCGAGACCCGACGC chr19:5691983-Reference-G;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative T gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GTGTAACTTGCA CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgtgtaacttgcaAGATCGAGACCCGACGC chr19:5691983-Alternative-T;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative C gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc CACGATTCCTGG CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAcacgattcctggAGATCGAGACCCGACGC chr19:5691983-Alternative-C;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Reference G gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GTCGTATCCGCT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgtcgtatccgctAGATCGAGACCCGACGC chr19:5691983-Reference-G;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative C gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc AACAACGCACTA CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaCcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAaacaacgcactaAGATCGAGACCCGACGC chr19:5691983-Alternative-C;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Reference G gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc ACGTATCTTGGT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAacgtatcttggtAGATCGAGACCCGACGC chr19:5691983-Reference-G;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Alternative T gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GAGCTAGGACGT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaTcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgagctaggacgtAGATCGAGACCCGACGC chr19:5691983-Alternative-T;Patient-60 chr19:5691983-GA DeNovo Patient-60 3 prime UTR LONP1 NA 9.9e-05 NA NA NA RPL36 1710 Reference G gagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtccc GTCCGTCGTCAT CGACGCGGTCTCTCTCTgagctgctcgctcggtggctccactgccaggtccgggcgcgctccccacaGcgctcagttctggcccagacagggcctgacatccgccgcctgcagtcccAGAGGGAGACGGACGTCTCAATAAgtccgtcgtcatAGATCGAGACCCGACGC chr19:5691983-Reference-G;Patient-60 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Reference C caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CTCGCTTAACAT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAActcgcttaacatAGATCGAGACCCGACGC chr19:5815848-Reference-C;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative G caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CTGTCTAATTGC CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAActgtctaattgcAGATCGAGACCCGACGC chr19:5815848-Alternative-G;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Variant T caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca GTACTTGCGTCC CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAgtacttgcgtccAGATCGAGACCCGACGC chr19:5815848-Variant-T;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative G caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca ACGTTCCGGTAC CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAacgttccggtacAGATCGAGACCCGACGC chr19:5815848-Alternative-G;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative G caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CTGTCCTACATA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAActgtcctacataAGATCGAGACCCGACGC chr19:5815848-Alternative-G;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Variant T caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca GTGGCATCTGGT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAgtggcatctggtAGATCGAGACCCGACGC chr19:5815848-Variant-T;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative G caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AGACGTCGTTCA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAagacgtcgttcaAGATCGAGACCCGACGC chr19:5815848-Alternative-G;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Reference C caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca GGAGTCTCGCTA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAggagtctcgctaAGATCGAGACCCGACGC chr19:5815848-Reference-C;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative G caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AGTCAGTATGGT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccGgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAagtcagtatggtAGATCGAGACCCGACGC chr19:5815848-Alternative-G;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Variant T caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AGAACGTCGAAT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAagaacgtcgaatAGATCGAGACCCGACGC chr19:5815848-Variant-T;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Variant T caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CGAGTTGTATCA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAcgagttgtatcaAGATCGAGACCCGACGC chr19:5815848-Variant-T;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Reference C caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CGTGTTCAACTT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAcgtgttcaacttAGATCGAGACCCGACGC chr19:5815848-Reference-C;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Reference C caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AGATCATGCTGT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAagatcatgctgtAGATCGAGACCCGACGC chr19:5815848-Reference-C;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Reference C caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CTTAGTAGCGAA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccCgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAActtagtagcgaaAGATCGAGACCCGACGC chr19:5815848-Reference-C;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Variant T caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AGTCAACACCAT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccTgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAagtcaacaccatAGATCGAGACCCGACGC chr19:5815848-Variant-T;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative A caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CGCTCACTTAAG CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAcgctcacttaagAGATCGAGACCCGACGC chr19:5815848-Alternative-A;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative A caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CTCTCGTAGTAT CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAActctcgtagtatAGATCGAGACCCGACGC chr19:5815848-Alternative-A;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative A caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca AACCAACGCTTA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAaaccaacgcttaAGATCGAGACCCGACGC chr19:5815848-Alternative-A;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative A caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca ACCTCCGGACTA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAacctccggactaAGATCGAGACCCGACGC chr19:5815848-Alternative-A;Patient-24 chr19:5815848-CT Inherited Patient-24 intergenic 0.000838 0.00103 -0.2 0.73 0 NDUFA11 88175 Alternative A caggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattaca CGTTCGCCGTTA CGACGCGGTCTCTCTCTcaggctggagtgcaatggtgcgatctcgactcactgcaacctccttctccAgggttcaagcaattcttctgcctcagcctcctgagtagttgggattacaAGAGGGAGACGGACGTCTCAATAAcgttcgccgttaAGATCGAGACCCGACGC chr19:5815848-Alternative-A;Patient-24 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative G gatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt ACTCGCAAGAGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAactcgcaagagtAGATCGAGACCCGACGC chr19:58783068-Alternative-G;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative G gatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GGACGAGTGATA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAggacgagtgataAGATCGAGACCCGACGC chr19:58783068-Alternative-G;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative G gatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt ACGAACGAGAGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAacgaacgagagtAGATCGAGACCCGACGC chr19:58783068-Alternative-G;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative G gatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GAGTACTGACGG CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAgagtactgacggAGATCGAGACCCGACGC chr19:58783068-Alternative-G;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Variant T gatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt CACTATACCAAG CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAcactataccaagAGATCGAGACCCGACGC chr19:58783068-Variant-T;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative G gatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GGCTTGAGGAGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcGcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAggcttgaggagtAGATCGAGACCCGACGC chr19:58783068-Alternative-G;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Variant T gatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt CTCTGATTGTGA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAActctgattgtgaAGATCGAGACCCGACGC chr19:58783068-Variant-T;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Reference A gatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggt CTCGTCCGAACT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAActcgtccgaactAGATCGAGACCCGACGC chr19:58783068-Reference-A;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Variant T gatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GCATCCGGTGAA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAgcatccggtgaaAGATCGAGACCCGACGC chr19:58783068-Variant-T;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Variant T gatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt CTTAGCGTGTAA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAActtagcgtgtaaAGATCGAGACCCGACGC chr19:58783068-Variant-T;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Reference A gatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggt AATGTGGACGGC CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAaatgtggacggcAGATCGAGACCCGACGC chr19:58783068-Reference-A;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Variant T gatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt CAGGTAGCACCT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcTcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAcaggtagcacctAGATCGAGACCCGACGC chr19:58783068-Variant-T;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative C gatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt ACCGTTGCTGAG CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAaccgttgctgagAGATCGAGACCCGACGC chr19:58783068-Alternative-C;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative C gatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GACGGTTGACGA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAgacggttgacgaAGATCGAGACCCGACGC chr19:58783068-Alternative-C;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Reference A gatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggt GTCTAGTCGCGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAgtctagtcgcgtAGATCGAGACCCGACGC chr19:58783068-Reference-A;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Reference A gatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggt CGTATGGACGGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAcgtatggacggtAGATCGAGACCCGACGC chr19:58783068-Reference-A;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative C gatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt ACTGCGATCCGT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAactgcgatccgtAGATCGAGACCCGACGC chr19:58783068-Alternative-C;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative C gatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt GGAACAGATTCT CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAggaacagattctAGATCGAGACCCGACGC chr19:58783068-Alternative-C;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Reference A gatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggt GACCTTGACGAC CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcActtcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAgaccttgacgacAGATCGAGACCCGACGC chr19:58783068-Reference-A;Patient-91 chr19:58783068-AT Inherited Patient-91 intergenic 6.4e-05 0.000188 0.23 6.33 1.57 ZSCAN22 55316 Alternative C gatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggt AATGTCTACGCA CGACGCGGTCTCTCTCTgatgagtactttcccttttaagcccatagcatttaattccctggtggttcCcttcttatttggataactaacaaattatttcaaatgtgtgcctataggtAGAGGGAGACGGACGTCTCAATAAaatgtctacgcaAGATCGAGACCCGACGC chr19:58783068-Alternative-C;Patient-91 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Reference C gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac GAATTGATCGCT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAgaattgatcgctAGATCGAGACCCGACGC chr19:6462751-Reference-C;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Reference C gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AATCGGCCTGAG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAaatcggcctgagAGATCGAGACCCGACGC chr19:6462751-Reference-C;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative G gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AGGTACTATGAG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAaggtactatgagAGATCGAGACCCGACGC chr19:6462751-Alternative-G;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative G gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AGTCATGTGACT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAagtcatgtgactAGATCGAGACCCGACGC chr19:6462751-Alternative-G;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Variant T gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac GGATCGACTCGT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAggatcgactcgtAGATCGAGACCCGACGC chr19:6462751-Variant-T;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative G gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac ATACCAACTGCG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAataccaactgcgAGATCGAGACCCGACGC chr19:6462751-Alternative-G;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative G gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac GGACGAGTTAGG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAggacgagttaggAGATCGAGACCCGACGC chr19:6462751-Alternative-G;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative G gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac CGACGCCGAATT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgGtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAcgacgccgaattAGATCGAGACCCGACGC chr19:6462751-Alternative-G;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative A gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac ATAGCGTCGGAG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAatagcgtcggagAGATCGAGACCCGACGC chr19:6462751-Alternative-A;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative A gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac GTGACGCTAATA CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAgtgacgctaataAGATCGAGACCCGACGC chr19:6462751-Alternative-A;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Reference C gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AAGACCTCTACG CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAaagacctctacgAGATCGAGACCCGACGC chr19:6462751-Reference-C;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Variant T gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac CACGCGTTGGTT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAcacgcgttggttAGATCGAGACCCGACGC chr19:6462751-Variant-T;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Variant T gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac CTGCGGCATATC CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAActgcggcatatcAGATCGAGACCCGACGC chr19:6462751-Variant-T;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Reference C gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac CGCGTCGATTCT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAcgcgtcgattctAGATCGAGACCCGACGC chr19:6462751-Reference-C;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Variant T gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac GCGGTGTCCATA CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAgcggtgtccataAGATCGAGACCCGACGC chr19:6462751-Variant-T;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Variant T gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AAGTCGTGAACA CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgTtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAaagtcgtgaacaAGATCGAGACCCGACGC chr19:6462751-Variant-T;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative A gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac ACTTCGTATCGT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAacttcgtatcgtAGATCGAGACCCGACGC chr19:6462751-Alternative-A;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative A gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac ATTACCGGTATC CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAattaccggtatcAGATCGAGACCCGACGC chr19:6462751-Alternative-A;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Alternative A gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AATCACGCGATA CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgAtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAaatcacgcgataAGATCGAGACCCGACGC chr19:6462751-Alternative-A;Patient-44 chr19:6462751-CT DeNovo Patient-44 intergenic NA 0.000513 0.37 8.07 0.16 GTF2F1 69459 Reference C gtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaac AGTCTCTCTCTT CGACGCGGTCTCTCTCTgtggtatgtatccatttggttatatttcttttctttttttgacagtcttgCtctgtcacccaggctagagtgcagtggcgtgatctcggctcactgcaacAGAGGGAGACGGACGTCTCAATAAagtctctctcttAGATCGAGACCCGACGC chr19:6462751-Reference-C;Patient-44 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative A ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GTAATTCGACGT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgtaattcgacgtAGATCGAGACCCGACGC chr19:6659146-Alternative-A;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Reference C ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GTACCTGTCATT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgtacctgtcattAGATCGAGACCCGACGC chr19:6659146-Reference-C;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative A ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct AGGCAATCGCAC CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAaggcaatcgcacAGATCGAGACCCGACGC chr19:6659146-Alternative-A;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative A ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GCCGATGCTCAT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgccgatgctcatAGATCGAGACCCGACGC chr19:6659146-Alternative-A;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Variant T ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct AGCTTGGCATAT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAagcttggcatatAGATCGAGACCCGACGC chr19:6659146-Variant-T;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Variant T ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GCGATGTTCGGT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgcgatgttcggtAGATCGAGACCCGACGC chr19:6659146-Variant-T;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative A ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct AATAAGCCTGAG CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAaataagcctgagAGATCGAGACCCGACGC chr19:6659146-Alternative-A;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Reference C ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GGAATGTGGTTA CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAggaatgtggttaAGATCGAGACCCGACGC chr19:6659146-Reference-C;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative A ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct AATAACGCGTCT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactAgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAaataacgcgtctAGATCGAGACCCGACGC chr19:6659146-Alternative-A;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative G ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct CTATCCATTAGG CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAActatccattaggAGATCGAGACCCGACGC chr19:6659146-Alternative-G;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Reference C ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct CTCTCGTCATGG CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAActctcgtcatggAGATCGAGACCCGACGC chr19:6659146-Reference-C;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Reference C ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct CAACTCCTTCTT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAcaactccttcttAGATCGAGACCCGACGC chr19:6659146-Reference-C;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative G ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GTCATGATCGGC CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgtcatgatcggcAGATCGAGACCCGACGC chr19:6659146-Alternative-G;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Reference C ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct ACTGGTTGTCAA CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactCgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAactggttgtcaaAGATCGAGACCCGACGC chr19:6659146-Reference-C;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Variant T ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct CGTTGGACCGAA CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAcgttggaccgaaAGATCGAGACCCGACGC chr19:6659146-Variant-T;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative G ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GCGAGATCAAGA CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgcgagatcaagaAGATCGAGACCCGACGC chr19:6659146-Alternative-G;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Variant T ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GAGCTGTGTTCG CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAgagctgtgttcgAGATCGAGACCCGACGC chr19:6659146-Variant-T;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative G ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct AGTATAGGTTCG CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAagtataggttcgAGATCGAGACCCGACGC chr19:6659146-Alternative-G;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Variant T ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct CGGCGTCATACT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactTgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAcggcgtcatactAGATCGAGACCCGACGC chr19:6659146-Variant-T;Patient-14 chr19:6659146-CT DeNovo Patient-14 intergenic NA 0.000513 0.23 6.22 0 C3 61515 Alternative G ggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgct GGCTGTGTCGAT CGACGCGGTCTCTCTCTggaaacaaacaaaagaggtaaataaaaagaattaatccaatggcttcactGgacttaggtgcagttttaaggggcccgacccaggcttggggtctgtgctAGAGGGAGACGGACGTCTCAATAAggctgtgtcgatAGATCGAGACCCGACGC chr19:6659146-Alternative-G;Patient-14 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative G cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GGATATTCTGGT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAggatattctggtAGATCGAGACCCGACGC chr19:6783569-Alternative-G;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Reference C cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ATCGGCTATACT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAatcggctatactAGATCGAGACCCGACGC chr19:6783569-Reference-C;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative G cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ACCGGATTACTA CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAaccggattactaAGATCGAGACCCGACGC chr19:6783569-Alternative-G;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Variant T cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GACATGGTGACT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAgacatggtgactAGATCGAGACCCGACGC chr19:6783569-Variant-T;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative G cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GGTTAATCCGAA CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAggttaatccgaaAGATCGAGACCCGACGC chr19:6783569-Alternative-G;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative A cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GAGATGGTTGAT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAgagatggttgatAGATCGAGACCCGACGC chr19:6783569-Alternative-A;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Variant T cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ACGTGTGCTCGA CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAacgtgtgctcgaAGATCGAGACCCGACGC chr19:6783569-Variant-T;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Variant T cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GTGTCGCTGTTC CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAgtgtcgctgttcAGATCGAGACCCGACGC chr19:6783569-Variant-T;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative A cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ATAACACGCCAC CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAataacacgccacAGATCGAGACCCGACGC chr19:6783569-Alternative-A;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative A cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc CAGGACGTTCAT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAcaggacgttcatAGATCGAGACCCGACGC chr19:6783569-Alternative-A;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative A cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GCATGGTAGTTA CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAgcatggtagttaAGATCGAGACCCGACGC chr19:6783569-Alternative-A;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Variant T cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc AGGAAGACTGCG CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAaggaagactgcgAGATCGAGACCCGACGC chr19:6783569-Variant-T;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative G cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GGTTACGTAAGA CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAggttacgtaagaAGATCGAGACCCGACGC chr19:6783569-Alternative-G;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative A cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc CGTTAACCGACG CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaAggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAcgttaaccgacgAGATCGAGACCCGACGC chr19:6783569-Alternative-A;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Alternative G cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc CGTAGTAAGCGG CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaGggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAcgtagtaagcggAGATCGAGACCCGACGC chr19:6783569-Alternative-G;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Reference C cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc CATCATGTTGCT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAcatcatgttgctAGATCGAGACCCGACGC chr19:6783569-Reference-C;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Reference C cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc GAGGTGTAACAT CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAgaggtgtaacatAGATCGAGACCCGACGC chr19:6783569-Reference-C;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Variant T cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ACCGATAGCACG CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaTggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAaccgatagcacgAGATCGAGACCCGACGC chr19:6783569-Variant-T;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Reference C cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc CAGCGATTGACC CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAcagcgattgaccAGATCGAGACCCGACGC chr19:6783569-Reference-C;Patient-80 chr19:6783569-CT DeNovo Patient-80 intronic VAV1 0.000354 0.000142 -0.08 1.62 0.15 VAV1 10889 Reference C cttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctccc ATTGTTCATCGC CGACGCGGTCTCTCTCTcttttcctccaggctggagtgcaatggcgcgatctctgttcagtgcatcaCggcaacctccgcctcccaggttcaagtgattctcctgcctcagcctcccAGAGGGAGACGGACGTCTCAATAAattgttcatcgcAGATCGAGACCCGACGC chr19:6783569-Reference-C;Patient-80 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Variant C caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag ACTTACGATCGA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAacttacgatcgaAGATCGAGACCCGACGC chr19:7654777-Variant-C;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Variant C caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GGCTTGTTAGCG CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAggcttgttagcgAGATCGAGACCCGACGC chr19:7654777-Variant-C;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Variant C caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag CGCAATCCTATT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAcgcaatcctattAGATCGAGACCCGACGC chr19:7654777-Variant-C;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Variant C caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag AGCGGTACATCG CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAagcggtacatcgAGATCGAGACCCGACGC chr19:7654777-Variant-C;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Variant C caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GTACGACGCAGA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaCagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgtacgacgcagaAGATCGAGACCCGACGC chr19:7654777-Variant-C;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative A caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GTCCGGAGATAC CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgtccggagatacAGATCGAGACCCGACGC chr19:7654777-Alternative-A;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative A caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GGTTGCGTAGCA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAggttgcgtagcaAGATCGAGACCCGACGC chr19:7654777-Alternative-A;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative A caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag CTCATGTCTCTT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAActcatgtctcttAGATCGAGACCCGACGC chr19:7654777-Alternative-A;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative A caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag ATCTGCTTCTGA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAatctgcttctgaAGATCGAGACCCGACGC chr19:7654777-Alternative-A;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative A caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag AACAAGGTAACG CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaAagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAaacaaggtaacgAGATCGAGACCCGACGC chr19:7654777-Alternative-A;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Reference T caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GAGCAATCGTAA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgagcaatcgtaaAGATCGAGACCCGACGC chr19:7654777-Reference-T;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Reference T caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag CTGAGGCGAGTT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAActgaggcgagttAGATCGAGACCCGACGC chr19:7654777-Reference-T;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Reference T caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GCCGATGTATGT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgccgatgtatgtAGATCGAGACCCGACGC chr19:7654777-Reference-T;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Reference T caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag ACGACGGAACAC CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAacgacggaacacAGATCGAGACCCGACGC chr19:7654777-Reference-T;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Reference T caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag ACATGCTCTAAG CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaTagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAacatgctctaagAGATCGAGACCCGACGC chr19:7654777-Reference-T;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative G caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GCACGGTGGATA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgcacggtggataAGATCGAGACCCGACGC chr19:7654777-Alternative-G;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative G caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GCAGTAGGTGGT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgcagtaggtggtAGATCGAGACCCGACGC chr19:7654777-Alternative-G;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative G caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag GCGTTGCGAGTT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAgcgttgcgagttAGATCGAGACCCGACGC chr19:7654777-Alternative-G;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative G caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag CGCTCTGATTGT CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAcgctctgattgtAGATCGAGACCCGACGC chr19:7654777-Alternative-G;Patient-30 chr19:7654777-TC Inherited Patient-30 intergenic 0.00086 0.00154 NA NA NA XAB2 39661 Alternative G caaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaag CGACCAAGTAGA CGACGCGGTCTCTCTCTcaaagtactgggattacaggcatgcgccactgtgcccgtcctgaaggtcaGagacattgagagaagggtgaaccagcctcatactggaagggctgcaaagAGAGGGAGACGGACGTCTCAATAAcgaccaagtagaAGATCGAGACCCGACGC chr19:7654777-Alternative-G;Patient-30 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Variant A aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgag GACTATCAAGCT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgactatcaagctAGATCGAGACCCGACGC chr19:775768-Variant-A;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Variant A aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgag AGCATGCCTAGT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAagcatgcctagtAGATCGAGACCCGACGC chr19:775768-Variant-A;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Variant A aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgag CATGACCACAGG CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAcatgaccacaggAGATCGAGACCCGACGC chr19:775768-Variant-A;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Variant A aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgag GACGGTCAGTAC CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgacggtcagtacAGATCGAGACCCGACGC chr19:775768-Variant-A;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative T aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgag GTGCGGAGCTAA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgtgcggagctaaAGATCGAGACCCGACGC chr19:775768-Alternative-T;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Reference C aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgag AATGCTCTAGGT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAaatgctctaggtAGATCGAGACCCGACGC chr19:775768-Reference-C;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Reference C aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgag CGAAGTGGCAGT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAcgaagtggcagtAGATCGAGACCCGACGC chr19:775768-Reference-C;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Reference C aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgag GGTGAATTCCTA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAggtgaattcctaAGATCGAGACCCGACGC chr19:775768-Reference-C;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Reference C aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgag CGTGTATCGCGA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAcgtgtatcgcgaAGATCGAGACCCGACGC chr19:775768-Reference-C;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Variant A aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgag GCGTATACAACT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaAaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgcgtatacaactAGATCGAGACCCGACGC chr19:775768-Variant-A;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Reference C aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgag GTAGAATTAGCG CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaCaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgtagaattagcgAGATCGAGACCCGACGC chr19:775768-Reference-C;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative T aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgag ACGGCAACTCGT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAacggcaactcgtAGATCGAGACCCGACGC chr19:775768-Alternative-T;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative T aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgag GTCGCTTCGTCA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgtcgcttcgtcaAGATCGAGACCCGACGC chr19:775768-Alternative-T;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative T aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgag CGTCCAGATCGA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAcgtccagatcgaAGATCGAGACCCGACGC chr19:775768-Alternative-T;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative T aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgag ATCCGCTTACCA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaTaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAatccgcttaccaAGATCGAGACCCGACGC chr19:775768-Alternative-T;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative G aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgag GTACGTCAGATA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgtacgtcagataAGATCGAGACCCGACGC chr19:775768-Alternative-G;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative G aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgag GCGTATGACTAA CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgcgtatgactaaAGATCGAGACCCGACGC chr19:775768-Alternative-G;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative G aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgag CATCGGTACCTT CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAcatcggtaccttAGATCGAGACCCGACGC chr19:775768-Alternative-G;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative G aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgag GTGTAACTAGTC CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAgtgtaactagtcAGATCGAGACCCGACGC chr19:775768-Alternative-G;Patient-89 chr19:775768-CA Inherited Patient-89 intergenic NA 0.000513 0.08 3.91 0 PTBP1 21623 Alternative G aggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgag GGAATGCCACAG CGACGCGGTCTCTCTCTaggttgaggctgcagtgagctatgattgcaccactgctctccagcctggaGaacagaacgacccactttctcaaataaataaataaataaatacgctgagAGAGGGAGACGGACGTCTCAATAAggaatgccacagAGATCGAGACCCGACGC chr19:775768-Alternative-G;Patient-89 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative T attatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GTTATTGCGCGC CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAgttattgcgcgcAGATCGAGACCCGACGC chr19:7931178-Alternative-T;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative T attatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca AAGATGCGCTAA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAaagatgcgctaaAGATCGAGACCCGACGC chr19:7931178-Alternative-T;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative G attatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GTTGGATTGTCA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAgttggattgtcaAGATCGAGACCCGACGC chr19:7931178-Alternative-G;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative T attatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca ATTCCACCATAC CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAattccaccatacAGATCGAGACCCGACGC chr19:7931178-Alternative-T;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative G attatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GCGTCACACCAT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAgcgtcacaccatAGATCGAGACCCGACGC chr19:7931178-Alternative-G;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative T attatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca AGGTGACGCAGT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAaggtgacgcagtAGATCGAGACCCGACGC chr19:7931178-Alternative-T;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative G attatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca CGGCAGTTAACA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAcggcagttaacaAGATCGAGACCCGACGC chr19:7931178-Alternative-G;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative G attatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca AGTGCCTCGTCT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAagtgcctcgtctAGATCGAGACCCGACGC chr19:7931178-Alternative-G;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Variant C attatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca AACAGCGGCGAT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAaacagcggcgatAGATCGAGACCCGACGC chr19:7931178-Variant-C;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative T attatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca CGGAGTAACGGT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgTacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAcggagtaacggtAGATCGAGACCCGACGC chr19:7931178-Alternative-T;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Alternative G attatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GGTCGGCACAAT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgGacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAggtcggcacaatAGATCGAGACCCGACGC chr19:7931178-Alternative-G;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Reference A attatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca CATCAATGTTCG CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAcatcaatgttcgAGATCGAGACCCGACGC chr19:7931178-Reference-A;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Reference A attatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca AGGCGAAGTAAT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAaggcgaagtaatAGATCGAGACCCGACGC chr19:7931178-Reference-A;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Variant C attatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GTCATAGCAACA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAgtcatagcaacaAGATCGAGACCCGACGC chr19:7931178-Variant-C;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Reference A attatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca ACGTCAATCGCA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAacgtcaatcgcaAGATCGAGACCCGACGC chr19:7931178-Reference-A;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Reference A attatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GAGCATGGTATC CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAgagcatggtatcAGATCGAGACCCGACGC chr19:7931178-Reference-A;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Reference A attatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca GGAGTAGTATGT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgAacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAggagtagtatgtAGATCGAGACCCGACGC chr19:7931178-Reference-A;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Variant C attatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca CGTCACTTCGAC CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAcgtcacttcgacAGATCGAGACCCGACGC chr19:7931178-Variant-C;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Variant C attatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca ATACGTAGAGGT CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAatacgtagaggtAGATCGAGACCCGACGC chr19:7931178-Variant-C;Patient-82 chr19:7931178-AC DeNovo Patient-82 intergenic NA 0.000513 -0.03 2.16 0.15 SNAPC2 54015 Variant C attatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattaca CGCCTAACCGAA CGACGCGGTCTCTCTCTattatttttagtaaagatggggtttcaccatgttggccaggatagttttgCacccctgacctcaggtgatccacccgcctcccaaagtgctgggattacaAGAGGGAGACGGACGTCTCAATAAcgcctaaccgaaAGATCGAGACCCGACGC chr19:7931178-Variant-C;Patient-82 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative G aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CAGCGATCATAC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcagcgatcatacAGATCGAGACCCGACGC chr19:795036-Alternative-G;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative G aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CGATTGAGGCCT CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcgattgaggcctAGATCGAGACCCGACGC chr19:795036-Alternative-G;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative G aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt AGCACCTAATCA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAagcacctaatcaAGATCGAGACCCGACGC chr19:795036-Alternative-G;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative G aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CATGCTCGGAAC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcatgctcggaacAGATCGAGACCCGACGC chr19:795036-Alternative-G;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Reference T aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt ATCGAATCCTGA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAatcgaatcctgaAGATCGAGACCCGACGC chr19:795036-Reference-T;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative G aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GAGCAATGTCGG CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaGactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAgagcaatgtcggAGATCGAGACCCGACGC chr19:795036-Alternative-G;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Reference T aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GCGATGGAGTAA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAgcgatggagtaaAGATCGAGACCCGACGC chr19:795036-Reference-T;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Reference T aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt AGCTAGCGCCTA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAagctagcgcctaAGATCGAGACCCGACGC chr19:795036-Reference-T;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative A aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GCGCGCAATAAC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAgcgcgcaataacAGATCGAGACCCGACGC chr19:795036-Alternative-A;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Variant C aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GACCTCGATTGC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAgacctcgattgcAGATCGAGACCCGACGC chr19:795036-Variant-C;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Reference T aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt ACGAATCATGCT CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAacgaatcatgctAGATCGAGACCCGACGC chr19:795036-Reference-T;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative A aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CGTGCTCCGTTA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcgtgctccgttaAGATCGAGACCCGACGC chr19:795036-Alternative-A;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Variant C aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CGTGCTCACATC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcgtgctcacatcAGATCGAGACCCGACGC chr19:795036-Variant-C;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Variant C aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GCGAGTCGTTCA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAgcgagtcgttcaAGATCGAGACCCGACGC chr19:795036-Variant-C;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Variant C aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CATATGGCGGCA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcatatggcggcaAGATCGAGACCCGACGC chr19:795036-Variant-C;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Reference T aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CTTAGGTCCGTC CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaTactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAActtaggtccgtcAGATCGAGACCCGACGC chr19:795036-Reference-T;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative A aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt GGCGAGCTAGAA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAggcgagctagaaAGATCGAGACCCGACGC chr19:795036-Alternative-A;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative A aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt CACAACATGCTA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAcacaacatgctaAGATCGAGACCCGACGC chr19:795036-Alternative-A;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Variant C aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt ATTCCTATCGGT CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaCactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAattcctatcggtAGATCGAGACCCGACGC chr19:795036-Variant-C;Patient-64 chr19:795036-TC DeNovo Patient-64 intergenic NA 0.000513 -0.04 2.03 -0.24 PTBP1 2355 Alternative A aggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggtt ACACATAGGCTA CGACGCGGTCTCTCTCTaggtggctggtcatgtggggcttgcggggtaagggatggccttgggtttaAactttgagcaagacaggaggcctggcggggccacgatcagaagtgggttAGAGGGAGACGGACGTCTCAATAAacacataggctaAGATCGAGACCCGACGC chr19:795036-Alternative-A;Patient-64 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Variant C ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt AGAATTACGCAG CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAagaattacgcagAGATCGAGACCCGACGC chr19:823704-Variant-C;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Variant C ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt GGCGTATTGAAT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAggcgtattgaatAGATCGAGACCCGACGC chr19:823704-Variant-C;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Variant C ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CTTGGTAACACT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAActtggtaacactAGATCGAGACCCGACGC chr19:823704-Variant-C;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative A ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt GGTACGCCGTTA CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAggtacgccgttaAGATCGAGACCCGACGC chr19:823704-Alternative-A;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Variant C ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt ATCATAAGCGTC CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAatcataagcgtcAGATCGAGACCCGACGC chr19:823704-Variant-C;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Variant C ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt AAGGCGGCGAAT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaCgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAaaggcggcgaatAGATCGAGACCCGACGC chr19:823704-Variant-C;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative A ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CGCGTCTAACAG CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAcgcgtctaacagAGATCGAGACCCGACGC chr19:823704-Alternative-A;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Reference G ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt ACTTGCCGAAGG CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAacttgccgaaggAGATCGAGACCCGACGC chr19:823704-Reference-G;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Reference G ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt GTAGAGCATCTT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAgtagagcatcttAGATCGAGACCCGACGC chr19:823704-Reference-G;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Reference G ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CACGGCGTATGT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAcacggcgtatgtAGATCGAGACCCGACGC chr19:823704-Reference-G;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative T ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt GCGGCAATAACG CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAgcggcaataacgAGATCGAGACCCGACGC chr19:823704-Alternative-T;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Reference G ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CACAGCAACCTT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAcacagcaaccttAGATCGAGACCCGACGC chr19:823704-Reference-G;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Reference G ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CGGTCAATAAGA CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaGgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAcggtcaataagaAGATCGAGACCCGACGC chr19:823704-Reference-G;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative A ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CTAAGCAAGTCT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAActaagcaagtctAGATCGAGACCCGACGC chr19:823704-Alternative-A;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative T ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt AAGGAACGCTTA CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAaaggaacgcttaAGATCGAGACCCGACGC chr19:823704-Alternative-T;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative T ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt CTCGGTAACGGT CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAActcggtaacggtAGATCGAGACCCGACGC chr19:823704-Alternative-T;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative T ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt GTTGACGCGAAG CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAgttgacgcgaagAGATCGAGACCCGACGC chr19:823704-Alternative-T;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative T ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt ACGCTTAGTCAA CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaTgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAacgcttagtcaaAGATCGAGACCCGACGC chr19:823704-Alternative-T;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative A ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt AAGGCGCTTGAC CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAaaggcgcttgacAGATCGAGACCCGACGC chr19:823704-Alternative-A;Patient-92 chr19:823704-GC DeNovo Patient-92 intergenic NA 0.000513 0.29 7.1 1.03 CFD 35960 Alternative A ggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccatt ACAACAGGATCA CGACGCGGTCTCTCTCTggactgcacggactgcctggggaggggtctttggccccccggttcctgcaAgggggctcggggaggccctgtgagcagttggtcacaggtgggtcccattAGAGGGAGACGGACGTCTCAATAAacaacaggatcaAGATCGAGACCCGACGC chr19:823704-Alternative-A;Patient-92 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative G agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga CGACCGTTCGAA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAcgaccgttcgaaAGATCGAGACCCGACGC chr19:8269495-Alternative-G;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative G agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GGTGACGTACGA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAggtgacgtacgaAGATCGAGACCCGACGC chr19:8269495-Alternative-G;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative G agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga CGGAGATTAGAT CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAcggagattagatAGATCGAGACCCGACGC chr19:8269495-Alternative-G;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Variant C agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACCGAATCGTAA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAaccgaatcgtaaAGATCGAGACCCGACGC chr19:8269495-Variant-C;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Variant C agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga AGTTAGGCTGTT CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAagttaggctgttAGATCGAGACCCGACGC chr19:8269495-Variant-C;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Variant C agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GTGATAAGCGAG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAgtgataagcgagAGATCGAGACCCGACGC chr19:8269495-Variant-C;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Variant C agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga CTGTTCACCAAT CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAActgttcaccaatAGATCGAGACCCGACGC chr19:8269495-Variant-C;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative A agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga AGCTAGAAGCTA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAagctagaagctaAGATCGAGACCCGACGC chr19:8269495-Alternative-A;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative A agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACACTTCCTGCA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAacacttcctgcaAGATCGAGACCCGACGC chr19:8269495-Alternative-A;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Reference T agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GTGACATCGTTC CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAgtgacatcgttcAGATCGAGACCCGACGC chr19:8269495-Reference-T;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative A agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga CGTTGTTAGCAA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAcgttgttagcaaAGATCGAGACCCGACGC chr19:8269495-Alternative-A;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative A agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga AAGATGAACGCA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAaagatgaacgcaAGATCGAGACCCGACGC chr19:8269495-Alternative-A;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Variant C agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACACTTATTGCG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaCcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAacacttattgcgAGATCGAGACCCGACGC chr19:8269495-Variant-C;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative A agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GATTCCGCGACT CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaAcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAgattccgcgactAGATCGAGACCCGACGC chr19:8269495-Alternative-A;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative G agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACAGCACACGAG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAacagcacacgagAGATCGAGACCCGACGC chr19:8269495-Alternative-G;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Reference T agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACAAGCAGTTCT CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAacaagcagttctAGATCGAGACCCGACGC chr19:8269495-Reference-T;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Reference T agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga AAGACCATCGCG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAaagaccatcgcgAGATCGAGACCCGACGC chr19:8269495-Reference-T;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Alternative G agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga ACTACGCTGTGG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaGcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAactacgctgtggAGATCGAGACCCGACGC chr19:8269495-Alternative-G;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Reference T agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GGTCATGAATCG CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAggtcatgaatcgAGATCGAGACCCGACGC chr19:8269495-Reference-T;Patient-30 chr19:8269495-TC Inherited Patient-30 intergenic 0.00016 0.00103 NA NA NA CERS4 4721 Reference T agctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgaga GTTCACGGCTGA CGACGCGGTCTCTCTCTagctaattcttaaaattctttaggctgggcgtggtggctcatgcctgtaaTcccagaactttgggaggcgggcggactacctgaggtcaggagtttgagaAGAGGGAGACGGACGTCTCAATAAgttcacggctgaAGATCGAGACCCGACGC chr19:8269495-Reference-T;Patient-30 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Reference T gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ATACGTCTACGA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAatacgtctacgaAGATCGAGACCCGACGC chr19:8458890-Reference-T;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative A gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CGGTGTGGTAGT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcggtgtggtagtAGATCGAGACCCGACGC chr19:8458890-Alternative-A;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative A gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc GAATTAGGCAGT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAgaattaggcagtAGATCGAGACCCGACGC chr19:8458890-Alternative-A;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative A gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CGCCTGGAACTA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcgcctggaactaAGATCGAGACCCGACGC chr19:8458890-Alternative-A;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative A gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc AACGGTACATCA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAaacggtacatcaAGATCGAGACCCGACGC chr19:8458890-Alternative-A;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Reference T gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ACAACCTTCTGT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAacaaccttctgtAGATCGAGACCCGACGC chr19:8458890-Reference-T;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Reference T gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc GGTGCCAGTTGT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAggtgccagttgtAGATCGAGACCCGACGC chr19:8458890-Reference-T;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative A gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc GTGTAACAGCTT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcAgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAgtgtaacagcttAGATCGAGACCCGACGC chr19:8458890-Alternative-A;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Reference T gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc AACTTCCGACGG CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAaacttccgacggAGATCGAGACCCGACGC chr19:8458890-Reference-T;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Variant C gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc GCGACTCAGACT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAgcgactcagactAGATCGAGACCCGACGC chr19:8458890-Variant-C;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Variant C gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ATCGACTCACCG CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAatcgactcaccgAGATCGAGACCCGACGC chr19:8458890-Variant-C;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative G gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc AAGATATCGTCC CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAaagatatcgtccAGATCGAGACCCGACGC chr19:8458890-Alternative-G;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Variant C gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CAATAGAGCACA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcaatagagcacaAGATCGAGACCCGACGC chr19:8458890-Variant-C;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative G gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CAAGTCAGGTCG CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcaagtcaggtcgAGATCGAGACCCGACGC chr19:8458890-Alternative-G;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative G gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc AGAACGGACTAT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAagaacggactatAGATCGAGACCCGACGC chr19:8458890-Alternative-G;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative G gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ACCGATGTTAGG CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAaccgatgttaggAGATCGAGACCCGACGC chr19:8458890-Alternative-G;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Alternative G gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CGGCTCTAGCAA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcGgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcggctctagcaaAGATCGAGACCCGACGC chr19:8458890-Alternative-G;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Reference T gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ACACCACTTGTT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcTgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAacaccacttgttAGATCGAGACCCGACGC chr19:8458890-Reference-T;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Variant C gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc CACGGAAGTTAT CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAcacggaagttatAGATCGAGACCCGACGC chr19:8458890-Variant-C;Patient-88 chr19:8458890-TC DeNovo Patient-88 intronic RAB11B NA 4.95e-05 0.73 11.35 -2.54 RAB11B 3684 Variant C gtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtc ATAGCGCGTGCA CGACGCGGTCTCTCTCTgtcgcttcccagccagtgaagccaccaacttctgtggaaatgctcggagcCgtgtcctcaagggctctttatttccccaagacaacagattgcttgtgtcAGAGGGAGACGGACGTCTCAATAAatagcgcgtgcaAGATCGAGACCCGACGC chr19:8458890-Variant-C;Patient-88 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative C gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg ACCACACGCAAT CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAaccacacgcaatAGATCGAGACCCGACGC chr19:8629192-Alternative-C;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative C gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GATGGTAACAAC CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgatggtaacaacAGATCGAGACCCGACGC chr19:8629192-Alternative-C;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative C gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg ATAACGGTCGAG CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAataacggtcgagAGATCGAGACCCGACGC chr19:8629192-Alternative-C;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative C gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg CGGAGGTAATCA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAcggaggtaatcaAGATCGAGACCCGACGC chr19:8629192-Alternative-C;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative T gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCAGTGCTCTTA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcagtgctcttaAGATCGAGACCCGACGC chr19:8629192-Alternative-T;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Reference G gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GGAGTACTAACC CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAggagtactaaccAGATCGAGACCCGACGC chr19:8629192-Reference-G;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative T gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg CGCGCGTAATCA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAcgcgcgtaatcaAGATCGAGACCCGACGC chr19:8629192-Alternative-T;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative C gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GACGTATCCGCA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagCaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgacgtatccgcaAGATCGAGACCCGACGC chr19:8629192-Alternative-C;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative T gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg ACGACGCATGAG CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAacgacgcatgagAGATCGAGACCCGACGC chr19:8629192-Alternative-T;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Variant A gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCGGCGTATCTT CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcggcgtatcttAGATCGAGACCCGACGC chr19:8629192-Variant-A;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Reference G gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg CATCTCTCACTT CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAcatctctcacttAGATCGAGACCCGACGC chr19:8629192-Reference-G;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Variant A gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCACGACTAACC CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcacgactaaccAGATCGAGACCCGACGC chr19:8629192-Variant-A;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative T gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg ATTGGATTGTGC CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAattggattgtgcAGATCGAGACCCGACGC chr19:8629192-Alternative-T;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Alternative T gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg AGGAGTACCTGG CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagTaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAaggagtacctggAGATCGAGACCCGACGC chr19:8629192-Alternative-T;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Reference G gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCAGTATCGGAG CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcagtatcggagAGATCGAGACCCGACGC chr19:8629192-Reference-G;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Variant A gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg CTTATGCGTACA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAActtatgcgtacaAGATCGAGACCCGACGC chr19:8629192-Variant-A;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Variant A gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg AACGTCGACAGG CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAaacgtcgacaggAGATCGAGACCCGACGC chr19:8629192-Variant-A;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Reference G gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCACCATAAGAA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcaccataagaaAGATCGAGACCCGACGC chr19:8629192-Reference-G;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Reference G gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCACGCGAACTA CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagGaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcacgcgaactaAGATCGAGACCCGACGC chr19:8629192-Reference-G;Patient-86 chr19:8629192-GA DeNovo Patient-86 intronic MYO1F 0.000287 9.9e-05 -0.29 0.4 -0.76 MYO1F 13138 Variant A gtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctgg GCATGTTCAATC CGACGCGGTCTCTCTCTgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccagAaggcagaggttgcagtgagccaagatcatgccattgcacttcagcctggAGAGGGAGACGGACGTCTCAATAAgcatgttcaatcAGATCGAGACCCGACGC chr19:8629192-Variant-A;Patient-86 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Reference C ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CTGAGTAACACT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAActgagtaacactAGATCGAGACCCGACGC chr19:8742063-Reference-C;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Reference C ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CGTGAAGGACGT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAcgtgaaggacgtAGATCGAGACCCGACGC chr19:8742063-Reference-C;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Reference C ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa ACGATACGAGAT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAacgatacgagatAGATCGAGACCCGACGC chr19:8742063-Reference-C;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Reference C ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa GCACGATCAATT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAgcacgatcaattAGATCGAGACCCGACGC chr19:8742063-Reference-C;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative A ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa ACTCAACGACTA CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAactcaacgactaAGATCGAGACCCGACGC chr19:8742063-Alternative-A;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Variant G ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa AGGTGTACTATC CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAaggtgtactatcAGATCGAGACCCGACGC chr19:8742063-Variant-G;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Reference C ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa ACGGCGGTATAC CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctCtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAacggcggtatacAGATCGAGACCCGACGC chr19:8742063-Reference-C;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Variant G ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CGTGCAGTTCGA CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAcgtgcagttcgaAGATCGAGACCCGACGC chr19:8742063-Variant-G;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Variant G ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa AACCGTAATGCT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAaaccgtaatgctAGATCGAGACCCGACGC chr19:8742063-Variant-G;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Variant G ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa ATCGTTGAGCTA CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAatcgttgagctaAGATCGAGACCCGACGC chr19:8742063-Variant-G;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative A ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CAACGCGTAAGG CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAcaacgcgtaaggAGATCGAGACCCGACGC chr19:8742063-Alternative-A;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative T ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa GTGTTCACAAGT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAgtgttcacaagtAGATCGAGACCCGACGC chr19:8742063-Alternative-T;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Variant G ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa GATGCCGTACGA CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctGtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAgatgccgtacgaAGATCGAGACCCGACGC chr19:8742063-Variant-G;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative A ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CTGCTCGGTCTA CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAActgctcggtctaAGATCGAGACCCGACGC chr19:8742063-Alternative-A;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative T ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa AACTCTGATTGC CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAaactctgattgcAGATCGAGACCCGACGC chr19:8742063-Alternative-T;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative T ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa ATAACTGCTTCG CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAataactgcttcgAGATCGAGACCCGACGC chr19:8742063-Alternative-T;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative T ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa GAATGGCGGCAT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAgaatggcggcatAGATCGAGACCCGACGC chr19:8742063-Alternative-T;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative T ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa AAGTACTGCTGT CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctTtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAaagtactgctgtAGATCGAGACCCGACGC chr19:8742063-Alternative-T;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative A ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa CAACACCAACAC CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAcaacaccaacacAGATCGAGACCCGACGC chr19:8742063-Alternative-A;Patient-87 chr19:8742063-CG Inherited Patient-87 intergenic 0.000223 0.00154 -0.34 0.27 -0.26 ACTL9 67108 Alternative A ctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaa GGTCTTATTGAG CGACGCGGTCTCTCTCTctgacggtttacagatgccatggcaacatcaggaagttaccctctatgctAtaaaaacgggaggtatgaataatccaccccttgtttagcatatcatcaaAGAGGGAGACGGACGTCTCAATAAggtcttattgagAGATCGAGACCCGACGC chr19:8742063-Alternative-A;Patient-87 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Reference G gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CGAACTGAGAAG CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAcgaactgagaagAGATCGAGACCCGACGC chr19:9153711-Reference-G;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative A gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg ACTTCATTGCGT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAacttcattgcgtAGATCGAGACCCGACGC chr19:9153711-Alternative-A;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Variant T gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg ACAGCGATGACC CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAacagcgatgaccAGATCGAGACCCGACGC chr19:9153711-Variant-T;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Variant T gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg ATCGTGGCTATA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAatcgtggctataAGATCGAGACCCGACGC chr19:9153711-Variant-T;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Variant T gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg AAGGAATTGACC CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAaaggaattgaccAGATCGAGACCCGACGC chr19:9153711-Variant-T;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Reference G gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GTACCAGAACGG CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAgtaccagaacggAGATCGAGACCCGACGC chr19:9153711-Reference-G;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Variant T gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GAATGGTAGTCA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAgaatggtagtcaAGATCGAGACCCGACGC chr19:9153711-Variant-T;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative A gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GTCGGACAACAG CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAgtcggacaacagAGATCGAGACCCGACGC chr19:9153711-Alternative-A;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative A gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GTAGGTATCTGT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAgtaggtatctgtAGATCGAGACCCGACGC chr19:9153711-Alternative-A;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Reference G gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CACGGATGCGAT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAcacggatgcgatAGATCGAGACCCGACGC chr19:9153711-Reference-G;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Reference G gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg ATAGTCACCGAC CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAatagtcaccgacAGATCGAGACCCGACGC chr19:9153711-Reference-G;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative A gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg ACGCATACTGAT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAacgcatactgatAGATCGAGACCCGACGC chr19:9153711-Alternative-A;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative C gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GTCAACGACAGG CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAgtcaacgacaggAGATCGAGACCCGACGC chr19:9153711-Alternative-C;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative A gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg GGCCATCGACAT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagAtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAggccatcgacatAGATCGAGACCCGACGC chr19:9153711-Alternative-A;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Reference G gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg AACTCTCGTACT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagGtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAaactctcgtactAGATCGAGACCCGACGC chr19:9153711-Reference-G;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative C gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CAAGCCTGACTA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAcaagcctgactaAGATCGAGACCCGACGC chr19:9153711-Alternative-C;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Variant T gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CACAATAAGGCA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagTtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAcacaataaggcaAGATCGAGACCCGACGC chr19:9153711-Variant-T;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative C gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CTCTTGGACGCT CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAActcttggacgctAGATCGAGACCCGACGC chr19:9153711-Alternative-C;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative C gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg CGCGTTCGATCA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAcgcgttcgatcaAGATCGAGACCCGACGC chr19:9153711-Alternative-C;Patient-53 chr19:9153711-GT DeNovo Patient-53 intergenic NA 0.000512821 -0.06 1.87 0 OR7G2 60270 Alternative C gacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatg AGCTAGGTTACA CGACGCGGTCTCTCTCTgacaggcgcagtggctcacgcctgtaatcccaacactttgggatgccaagCtaggcagatcgcctgaggtcgggagttcaagaagagcctgaccaacatgAGAGGGAGACGGACGTCTCAATAAagctaggttacaAGATCGAGACCCGACGC chr19:9153711-Alternative-C;Patient-53 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative G gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgatttttt AGCCGACGTGAT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAagccgacgtgatAGATCGAGACCCGACGC chr19:9276932-Alternative-G;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Reference T gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GGACGTTATACT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAggacgttatactAGATCGAGACCCGACGC chr19:9276932-Reference-T;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Reference T gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GATTGCGAATGT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgattgcgaatgtAGATCGAGACCCGACGC chr19:9276932-Reference-T;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Reference T gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GGTGACGTAGGT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAggtgacgtaggtAGATCGAGACCCGACGC chr19:9276932-Reference-T;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Reference T gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GTTCCGCTAAGG CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgttccgctaaggAGATCGAGACCCGACGC chr19:9276932-Reference-T;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative G gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgatttttt ACGCTAACGAGT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAacgctaacgagtAGATCGAGACCCGACGC chr19:9276932-Alternative-G;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative A gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GATGGTAAGCGG CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgatggtaagcggAGATCGAGACCCGACGC chr19:9276932-Alternative-A;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Reference T gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgatttttt AATCTGGTGCGC CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcTgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAaatctggtgcgcAGATCGAGACCCGACGC chr19:9276932-Reference-T;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative G gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgatttttt CAAGTTGGAGCG CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAcaagttggagcgAGATCGAGACCCGACGC chr19:9276932-Alternative-G;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative A gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GATCCTATCGCT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgatcctatcgctAGATCGAGACCCGACGC chr19:9276932-Alternative-A;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative G gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GCGATAGTTCGA CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgcgatagttcgaAGATCGAGACCCGACGC chr19:9276932-Alternative-G;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Variant C gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgatttttt CACGAACCTAAC CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAcacgaacctaacAGATCGAGACCCGACGC chr19:9276932-Variant-C;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative G gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgatttttt ATCGAGCCGCTT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcGgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAatcgagccgcttAGATCGAGACCCGACGC chr19:9276932-Alternative-G;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative A gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgatttttt ACGTTCGACTAA CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAacgttcgactaaAGATCGAGACCCGACGC chr19:9276932-Alternative-A;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Variant C gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgatttttt AGGAGAATCGAG CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAaggagaatcgagAGATCGAGACCCGACGC chr19:9276932-Variant-C;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Variant C gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgatttttt CAATGGACTAAC CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAcaatggactaacAGATCGAGACCCGACGC chr19:9276932-Variant-C;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Variant C gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgatttttt ATTGTCCGAACT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAattgtccgaactAGATCGAGACCCGACGC chr19:9276932-Variant-C;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Variant C gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgatttttt ATAGCCTTCCAT CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcCgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAatagccttccatAGATCGAGACCCGACGC chr19:9276932-Variant-C;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative A gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GTGCTCGATAAG CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAgtgctcgataagAGATCGAGACCCGACGC chr19:9276932-Alternative-A;Patient-54 chr19:9276932-TC Inherited Patient-54 intergenic 3.2e-05 0.000513 0.25 6.58 0.15 OR7G2 62949 Alternative A gcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgatttttt GGTAGGTAGACA CGACGCGGTCTCTCTCTgcatgtatgtgtcacgttttattcattcatctattgatgaacatttgggcAgtttctacctcttggctattgtgaatcatactgatattgatgattttttAGAGGGAGACGGACGTCTCAATAAggtaggtagacaAGATCGAGACCCGACGC chr19:9276932-Alternative-A;Patient-54 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Variant C cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt ACTAGCGTGTAC CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAactagcgtgtacAGATCGAGACCCGACGC chr2:100093851-Variant-C;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Variant C cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GATGTAGGTTCT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAgatgtaggttctAGATCGAGACCCGACGC chr2:100093851-Variant-C;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Reference T cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt CGCTCCTACAAG CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAcgctcctacaagAGATCGAGACCCGACGC chr2:100093851-Reference-T;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Reference T cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt AATCGGAGCCGT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAaatcggagccgtAGATCGAGACCCGACGC chr2:100093851-Reference-T;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Variant C cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt AGCTACACGTCG CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAagctacacgtcgAGATCGAGACCCGACGC chr2:100093851-Variant-C;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Variant C cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt CACGCAACTGGT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAcacgcaactggtAGATCGAGACCCGACGC chr2:100093851-Variant-C;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Variant C cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt CACGATAATTCG CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaCggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAcacgataattcgAGATCGAGACCCGACGC chr2:100093851-Variant-C;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative A cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt AGTCGGCGAGAT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAagtcggcgagatAGATCGAGACCCGACGC chr2:100093851-Alternative-A;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative A cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GTGTAAGAGTCT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAgtgtaagagtctAGATCGAGACCCGACGC chr2:100093851-Alternative-A;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative A cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt AGTCGCGAACGT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAagtcgcgaacgtAGATCGAGACCCGACGC chr2:100093851-Alternative-A;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative A cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt ACAGCACACGCT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAacagcacacgctAGATCGAGACCCGACGC chr2:100093851-Alternative-A;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative A cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GGATCATGCGGT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaAggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAggatcatgcggtAGATCGAGACCCGACGC chr2:100093851-Alternative-A;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Reference T cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GCGATCGTACCT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAgcgatcgtacctAGATCGAGACCCGACGC chr2:100093851-Reference-T;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Reference T cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GTTACCTGACCA CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAgttacctgaccaAGATCGAGACCCGACGC chr2:100093851-Reference-T;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative G cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GTTCTAGTACAG CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAgttctagtacagAGATCGAGACCCGACGC chr2:100093851-Alternative-G;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative G cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt CAGACGCTGCAT CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAcagacgctgcatAGATCGAGACCCGACGC chr2:100093851-Alternative-G;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative G cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt GGTAATCACGAA CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAggtaatcacgaaAGATCGAGACCCGACGC chr2:100093851-Alternative-G;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative G cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt ATAGACCTAGTC CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAatagacctagtcAGATCGAGACCCGACGC chr2:100093851-Alternative-G;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Reference T cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt CGATCTTACGAA CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaTggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAcgatcttacgaaAGATCGAGACCCGACGC chr2:100093851-Reference-T;Patient-30 chr2:100093851-TC Inherited Patient-30 intronic REV1 0.000255 0.00016 NA NA NA REV1 12628 Alternative G cagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggt ATCAACAACCGA CGACGCGGTCTCTCTCTcagttgtgaggtaacccagcttcaaccatgggaataaggacaataccctaGggaagggctaagcacacagagaactgtggaacccctaaaacactgaggtAGAGGGAGACGGACGTCTCAATAAatcaacaaccgaAGATCGAGACCCGACGC chr2:100093851-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Variant C ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GGCACGGATTGA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAggcacggattgaAGATCGAGACCCGACGC chr2:100142628-Variant-C;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Variant C ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GGTACCTACCAT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAggtacctaccatAGATCGAGACCCGACGC chr2:100142628-Variant-C;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Variant C ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggcc AGCCGATAAGAT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAagccgataagatAGATCGAGACCCGACGC chr2:100142628-Variant-C;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative A ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggcc CGGAAGCGTACA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAcggaagcgtacaAGATCGAGACCCGACGC chr2:100142628-Alternative-A;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative A ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GAGCCTTGGTAA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgagccttggtaaAGATCGAGACCCGACGC chr2:100142628-Alternative-A;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative A ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GGAGGACGGTAA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAggaggacggtaaAGATCGAGACCCGACGC chr2:100142628-Alternative-A;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative A ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggcc ACGTCGTGCGAT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAacgtcgtgcgatAGATCGAGACCCGACGC chr2:100142628-Alternative-A;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative A ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggcc CTCATGACTCTA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccAagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAActcatgactctaAGATCGAGACCCGACGC chr2:100142628-Alternative-A;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Reference T ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GATACAGACGAG CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgatacagacgagAGATCGAGACCCGACGC chr2:100142628-Reference-T;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Reference T ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GATTCGGTAGTT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgattcggtagttAGATCGAGACCCGACGC chr2:100142628-Reference-T;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Reference T ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggcc ACGTGTGTTCGG CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAacgtgtgttcggAGATCGAGACCCGACGC chr2:100142628-Reference-T;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Reference T ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GCGATGCGGATT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgcgatgcggattAGATCGAGACCCGACGC chr2:100142628-Reference-T;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Reference T ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggcc CACGCTACAATT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccTagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAcacgctacaattAGATCGAGACCCGACGC chr2:100142628-Reference-T;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative G ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggcc AACGGCAATAGT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAaacggcaatagtAGATCGAGACCCGACGC chr2:100142628-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative G ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GACATTCGACGA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgacattcgacgaAGATCGAGACCCGACGC chr2:100142628-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative G ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggcc ACTATCTGACAG CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAactatctgacagAGATCGAGACCCGACGC chr2:100142628-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative G ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggcc ATTCGCCTAGTT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAattcgcctagttAGATCGAGACCCGACGC chr2:100142628-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Alternative G ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggcc GATCGACATGTT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccGagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAgatcgacatgttAGATCGAGACCCGACGC chr2:100142628-Alternative-G;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Variant C ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggcc AGGCTGCGTCAT CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAaggctgcgtcatAGATCGAGACCCGACGC chr2:100142628-Variant-C;Patient-30 chr2:100142628-TC Inherited Patient-30 intergenic 0.000574 0.001025641 NA NA NA REV1 36147 Variant C ctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggcc CAATACGGTAGA CGACGCGGTCTCTCTCTctgcctcagcctcccaagtagctgggattacaggcatgtgccgccacaccCagctaactttctgtatttttagtggagacagggtttcaccatgttggccAGAGGGAGACGGACGTCTCAATAAcaatacggtagaAGATCGAGACCCGACGC chr2:100142628-Variant-C;Patient-30 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative C tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AATAGCGGAGCG CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAaatagcggagcgAGATCGAGACCCGACGC chr2:1002266-Alternative-C;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative C tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AAGTTGGTAGGT CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAaagttggtaggtAGATCGAGACCCGACGC chr2:1002266-Alternative-C;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Reference A tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg CACAGCTCACGA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAcacagctcacgaAGATCGAGACCCGACGC chr2:1002266-Reference-A;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative C tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg GGATGGCATCCA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAggatggcatccaAGATCGAGACCCGACGC chr2:1002266-Alternative-C;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative C tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AGGAATGCGACC CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAaggaatgcgaccAGATCGAGACCCGACGC chr2:1002266-Alternative-C;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative C tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg ATTGAATACGCG CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaCccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAattgaatacgcgAGATCGAGACCCGACGC chr2:1002266-Alternative-C;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Reference A tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg GATACACCAAGA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAgatacaccaagaAGATCGAGACCCGACGC chr2:1002266-Reference-A;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Reference A tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg GTATTCGTCGAA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAgtattcgtcgaaAGATCGAGACCCGACGC chr2:1002266-Reference-A;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative T tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AACTTCAGCACA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAaacttcagcacaAGATCGAGACCCGACGC chr2:1002266-Alternative-T;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Variant G tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AGATACGAGTCT CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAagatacgagtctAGATCGAGACCCGACGC chr2:1002266-Variant-G;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative T tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg CTATACTTAGCG CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAActatacttagcgAGATCGAGACCCGACGC chr2:1002266-Alternative-T;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Variant G tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AGGTAGAGCTAA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAaggtagagctaaAGATCGAGACCCGACGC chr2:1002266-Variant-G;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative T tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg CGATCCGGCATA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAcgatccggcataAGATCGAGACCCGACGC chr2:1002266-Alternative-T;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Reference A tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg CAAGCTACCAGG CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAcaagctaccaggAGATCGAGACCCGACGC chr2:1002266-Reference-A;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Reference A tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg GAGCAACGTATA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaAccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAgagcaacgtataAGATCGAGACCCGACGC chr2:1002266-Reference-A;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative T tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg ACTGTTCACGCG CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAactgttcacgcgAGATCGAGACCCGACGC chr2:1002266-Alternative-T;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Alternative T tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg CGGAAGGACCTT CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaTccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAcggaaggaccttAGATCGAGACCCGACGC chr2:1002266-Alternative-T;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Variant G tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg ATCGTAGCCTAA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAatcgtagcctaaAGATCGAGACCCGACGC chr2:1002266-Variant-G;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Variant G tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg AGATGACCGCCA CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAagatgaccgccaAGATCGAGACCCGACGC chr2:1002266-Variant-G;Patient-36 chr2:1002266-AG DeNovo Patient-36 intronic SNTG2 NA 4.95e-05 -0.23 0.57 -0.84 SNTG2 55711 Variant G tttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatg ACACACTAGACT CGACGCGGTCTCTCTCTtttagttatacttttctgtatagacttggcccgccacatccgtgggttcaGccaactgtggatggaatgcatttgaatagaaaatgtgtctgtacttatgAGAGGGAGACGGACGTCTCAATAAacacactagactAGATCGAGACCCGACGC chr2:1002266-Variant-G;Patient-36 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative G gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ACCTGACAGATT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAacctgacagattAGATCGAGACCCGACGC chr2:100982045-Alternative-G;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative T gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ATCACGTGAGAA CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAatcacgtgagaaAGATCGAGACCCGACGC chr2:100982045-Alternative-T;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative T gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GGTTGATCTCGG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAggttgatctcggAGATCGAGACCCGACGC chr2:100982045-Alternative-T;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Variant A gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GACCGCAAGTAC CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAgaccgcaagtacAGATCGAGACCCGACGC chr2:100982045-Variant-A;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative G gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac AGGTATCTATCG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAaggtatctatcgAGATCGAGACCCGACGC chr2:100982045-Alternative-G;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative T gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GGATGTTGCATT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAggatgttgcattAGATCGAGACCCGACGC chr2:100982045-Alternative-T;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Variant A gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CTAGACGAACCG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAActagacgaaccgAGATCGAGACCCGACGC chr2:100982045-Variant-A;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative G gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GGACTCAGTAGG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAggactcagtaggAGATCGAGACCCGACGC chr2:100982045-Alternative-G;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Reference C gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CTGAACGCGCTT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAActgaacgcgcttAGATCGAGACCCGACGC chr2:100982045-Reference-C;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative T gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CAACGGATCGAG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAcaacggatcgagAGATCGAGACCCGACGC chr2:100982045-Alternative-T;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Variant A gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CATTCGACGCAG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAcattcgacgcagAGATCGAGACCCGACGC chr2:100982045-Variant-A;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Variant A gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ATAAGTGCCGCG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAataagtgccgcgAGATCGAGACCCGACGC chr2:100982045-Variant-A;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Variant A gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GAGCAAGCTAAG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgActtcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAgagcaagctaagAGATCGAGACCCGACGC chr2:100982045-Variant-A;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative G gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac AGGTAGGCTCGA CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAaggtaggctcgaAGATCGAGACCCGACGC chr2:100982045-Alternative-G;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative G gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ACCGATGCTAAT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgGcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAaccgatgctaatAGATCGAGACCCGACGC chr2:100982045-Alternative-G;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Reference C gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ATCTGTATCGAG CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAatctgtatcgagAGATCGAGACCCGACGC chr2:100982045-Reference-C;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Alternative T gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CGTTCTGTGCGA CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgTcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAcgttctgtgcgaAGATCGAGACCCGACGC chr2:100982045-Alternative-T;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Reference C gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac CGTCGAGCGAAT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAcgtcgagcgaatAGATCGAGACCCGACGC chr2:100982045-Reference-C;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Reference C gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac GCAAGTGCTTAT CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAgcaagtgcttatAGATCGAGACCCGACGC chr2:100982045-Reference-C;Patient-92 chr2:100982045-CA Inherited Patient-92 intergenic 0.000159 0.00103 -0.04 2.11 0 CHST10 52084 Reference C gccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctac ATACGGCTCATA CGACGCGGTCTCTCTCTgccccataactgcaaagcaagaatacagatgttttgtaacatgggccgtgCcttcccctgtttggcaagtagcccagttaaaacctgagaaggtgtctacAGAGGGAGACGGACGTCTCAATAAatacggctcataAGATCGAGACCCGACGC chr2:100982045-Reference-C;Patient-92 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative G catgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GATAGTATCCGA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgatagtatccgaAGATCGAGACCCGACGC chr2:101058938-Alternative-G;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative G catgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGCTCGGAGAGT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagctcggagagtAGATCGAGACCCGACGC chr2:101058938-Alternative-G;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative A catgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGGCAATCAACC CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAaggcaatcaaccAGATCGAGACCCGACGC chr2:101058938-Alternative-A;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative G catgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AATACTACGCGT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAaatactacgcgtAGATCGAGACCCGACGC chr2:101058938-Alternative-G;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative A catgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GATCGCGACTGA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgatcgcgactgaAGATCGAGACCCGACGC chr2:101058938-Alternative-A;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Reference C catgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GATGCATACGCT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgatgcatacgctAGATCGAGACCCGACGC chr2:101058938-Reference-C;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Reference C catgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGATACTCGGTT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagatactcggttAGATCGAGACCCGACGC chr2:101058938-Reference-C;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Reference C catgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGCACGCATCCA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagcacgcatccaAGATCGAGACCCGACGC chr2:101058938-Reference-C;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Variant T catgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GTACAAGTCGCG CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgtacaagtcgcgAGATCGAGACCCGACGC chr2:101058938-Variant-T;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Variant T catgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AACTCTCTTGCA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAaactctcttgcaAGATCGAGACCCGACGC chr2:101058938-Variant-T;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative A catgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc CACAACGTACGT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAcacaacgtacgtAGATCGAGACCCGACGC chr2:101058938-Alternative-A;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative G catgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc CGCGAAGGAACA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAcgcgaaggaacaAGATCGAGACCCGACGC chr2:101058938-Alternative-G;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Reference C catgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGCGTCTAAGCG CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagcgtctaagcgAGATCGAGACCCGACGC chr2:101058938-Reference-C;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Variant T catgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GACTAAGCGTAT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgactaagcgtatAGATCGAGACCCGACGC chr2:101058938-Variant-T;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Reference C catgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GCGAGATAAGCG CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtCgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgcgagataagcgAGATCGAGACCCGACGC chr2:101058938-Reference-C;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative G catgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGCGGTCGTATC CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtGgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagcggtcgtatcAGATCGAGACCCGACGC chr2:101058938-Alternative-G;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative A catgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc GACCTCGTTATT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAgacctcgttattAGATCGAGACCCGACGC chr2:101058938-Alternative-A;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Variant T catgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AACGCGCACTGA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAaacgcgcactgaAGATCGAGACCCGACGC chr2:101058938-Variant-T;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Variant T catgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AGTGTCGCATAT CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtTgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAagtgtcgcatatAGATCGAGACCCGACGC chr2:101058938-Variant-T;Patient-99 chr2:101058938-CT DeNovo Patient-99 intergenic 0.000446 0.00103 0.06 3.59 0.77 NMS 28005 Alternative A catgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgcc AAGTTGACAGCA CGACGCGGTCTCTCTCTcatgctgattttgacataaggagcacatttcaaacgaatattttcacagtAgtcctgactaactcacccttccagcctcatttcccagctcagtgttgccAGAGGGAGACGGACGTCTCAATAAaagttgacagcaAGATCGAGACCCGACGC chr2:101058938-Alternative-A;Patient-99 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative G catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GCATCCGAGCAA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgcatccgagcaaAGATCGAGACCCGACGC chr2:101072850-Alternative-G;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative G catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CGCTAATAGACA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAcgctaatagacaAGATCGAGACCCGACGC chr2:101072850-Alternative-G;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative G catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat ACAATAGTGCGA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAacaatagtgcgaAGATCGAGACCCGACGC chr2:101072850-Alternative-G;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative G catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat AACTACGTATCG CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAaactacgtatcgAGATCGAGACCCGACGC chr2:101072850-Alternative-G;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative G catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GTACAGATCCGG CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtGatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgtacagatccggAGATCGAGACCCGACGC chr2:101072850-Alternative-G;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Reference T catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CGCTATACGTCC CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAcgctatacgtccAGATCGAGACCCGACGC chr2:101072850-Reference-T;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Reference T catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CGGAACAGCAAG CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAcggaacagcaagAGATCGAGACCCGACGC chr2:101072850-Reference-T;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Reference T catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GATGGCATGCGA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgatggcatgcgaAGATCGAGACCCGACGC chr2:101072850-Reference-T;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative A catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat AGTACGTAGAGT CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAagtacgtagagtAGATCGAGACCCGACGC chr2:101072850-Alternative-A;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Reference T catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CTTGCGAGACAC CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAActtgcgagacacAGATCGAGACCCGACGC chr2:101072850-Reference-T;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Reference T catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat AATCGTGTTGTC CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtTatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAaatcgtgttgtcAGATCGAGACCCGACGC chr2:101072850-Reference-T;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Variant C catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat ACGCTTCGTCAC CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAacgcttcgtcacAGATCGAGACCCGACGC chr2:101072850-Variant-C;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative A catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CGTAACGGTATT CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAcgtaacggtattAGATCGAGACCCGACGC chr2:101072850-Alternative-A;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Variant C catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat ATAGCGTACACG CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAatagcgtacacgAGATCGAGACCCGACGC chr2:101072850-Variant-C;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Variant C catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GAGCTGTTCGCA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgagctgttcgcaAGATCGAGACCCGACGC chr2:101072850-Variant-C;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative A catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat AGGCGCACTTGA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAaggcgcacttgaAGATCGAGACCCGACGC chr2:101072850-Alternative-A;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative A catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GGTGGAATGCCA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAggtggaatgccaAGATCGAGACCCGACGC chr2:101072850-Alternative-A;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Variant C catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GACGCGAGTGTT CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgacgcgagtgttAGATCGAGACCCGACGC chr2:101072850-Variant-C;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Alternative A catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat CATCACGAGGAC CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtAatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAcatcacgaggacAGATCGAGACCCGACGC chr2:101072850-Alternative-A;Patient-101 chr2:101072850-TC DeNovo Patient-101 intergenic NA 0.000513 0.22 6.17 0.11 NMS 14093 Variant C catataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataat GACTGACAGTTA CGACGCGGTCTCTCTCTcatataaaactagactaaaaaacaggaaataagagagatgtaaaggaagtCatagaaataaagaggtgttttttggaaataaagcttaaagagaaataatAGAGGGAGACGGACGTCTCAATAAgactgacagttaAGATCGAGACCCGACGC chr2:101072850-Variant-C;Patient-101 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative G ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga ATACGTGTCTTC CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAatacgtgtcttcAGATCGAGACCCGACGC chr2:101102437-Alternative-G;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Variant T ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga CAGCTCTATTCT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAcagctctattctAGATCGAGACCCGACGC chr2:101102437-Variant-T;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Variant T ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga CGAGTAATGCCG CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAcgagtaatgccgAGATCGAGACCCGACGC chr2:101102437-Variant-T;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative G ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga ACATCGAACTGA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAacatcgaactgaAGATCGAGACCCGACGC chr2:101102437-Alternative-G;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Variant T ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GGATGAACCTTA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAggatgaaccttaAGATCGAGACCCGACGC chr2:101102437-Variant-T;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Variant T ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GGACACCTTATA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAggacaccttataAGATCGAGACCCGACGC chr2:101102437-Variant-T;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Variant T ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga AATGTGGTTGAG CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggTgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAaatgtggttgagAGATCGAGACCCGACGC chr2:101102437-Variant-T;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative G ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga ACAGCGCATGAT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAacagcgcatgatAGATCGAGACCCGACGC chr2:101102437-Alternative-G;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Reference C ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GACTGAAGTATC CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAgactgaagtatcAGATCGAGACCCGACGC chr2:101102437-Reference-C;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative G ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga ACCTGTTATGCT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAacctgttatgctAGATCGAGACCCGACGC chr2:101102437-Alternative-G;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative G ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GGACATTACAAG CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggGgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAggacattacaagAGATCGAGACCCGACGC chr2:101102437-Alternative-G;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative A ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GTTGTGATTCGA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAgttgtgattcgaAGATCGAGACCCGACGC chr2:101102437-Alternative-A;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Reference C ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GCAAGGCGTGAT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAgcaaggcgtgatAGATCGAGACCCGACGC chr2:101102437-Reference-C;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative A ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GACGTCTAGATT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAgacgtctagattAGATCGAGACCCGACGC chr2:101102437-Alternative-A;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative A ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GGCTCTATCCGA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAggctctatccgaAGATCGAGACCCGACGC chr2:101102437-Alternative-A;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Reference C ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga GTCGCACAAGCA CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAgtcgcacaagcaAGATCGAGACCCGACGC chr2:101102437-Reference-C;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Reference C ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga CTATACATTGCG CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAActatacattgcgAGATCGAGACCCGACGC chr2:101102437-Reference-C;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative A ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga CTACCGGCATTC CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAActaccggcattcAGATCGAGACCCGACGC chr2:101102437-Alternative-A;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Alternative A ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga ATAAGTCGCGTT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggAgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAataagtcgcgttAGATCGAGACCCGACGC chr2:101102437-Alternative-A;Patient-87 chr2:101102437-CT Inherited Patient-87 intergenic 9.6e-05 0.001536885 -0.39 0.19 -0.27 NMS 15492 Reference C ccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatga CATTCGAAGACT CGACGCGGTCTCTCTCTccaatgtggcaaaaccctgcctctactaaaaaatacaaaaattagctgggCgtggtggcacgcacctgtaatcacagctacttgggaggctgaggcatgaAGAGGGAGACGGACGTCTCAATAAcattcgaagactAGATCGAGACCCGACGC chr2:101102437-Reference-C;Patient-87 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Reference G tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc AATCGGTACCGG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAaatcggtaccggAGATCGAGACCCGACGC chr2:101456101-Reference-G;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative T tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CGCAACGTCACT CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcgcaacgtcactAGATCGAGACCCGACGC chr2:101456101-Alternative-T;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Reference G tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CACGAGCACGAT CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcacgagcacgatAGATCGAGACCCGACGC chr2:101456101-Reference-G;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative T tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CGATTCACGAAC CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcgattcacgaacAGATCGAGACCCGACGC chr2:101456101-Alternative-T;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Reference G tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc GTATACGATGAG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAgtatacgatgagAGATCGAGACCCGACGC chr2:101456101-Reference-G;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Variant C tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc GTGTAATCATCG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAgtgtaatcatcgAGATCGAGACCCGACGC chr2:101456101-Variant-C;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative T tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc AGTGATAGCACA CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAagtgatagcacaAGATCGAGACCCGACGC chr2:101456101-Alternative-T;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Reference G tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc ATAATCTGTGCG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAataatctgtgcgAGATCGAGACCCGACGC chr2:101456101-Reference-G;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Reference G tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc AATGTGTTCGGT CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggGggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAaatgtgttcggtAGATCGAGACCCGACGC chr2:101456101-Reference-G;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative A tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc GACAAGTTAACG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAgacaagttaacgAGATCGAGACCCGACGC chr2:101456101-Alternative-A;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Variant C tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CGAATACGATGA CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcgaatacgatgaAGATCGAGACCCGACGC chr2:101456101-Variant-C;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative T tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CGGAACGTGCAT CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcggaacgtgcatAGATCGAGACCCGACGC chr2:101456101-Alternative-T;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative A tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc AACTTGCTCCGC CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAaacttgctccgcAGATCGAGACCCGACGC chr2:101456101-Alternative-A;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative T tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CATCTGACAGAT CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggTggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcatctgacagatAGATCGAGACCCGACGC chr2:101456101-Alternative-T;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative A tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CTGAGACTGTGC CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAActgagactgtgcAGATCGAGACCCGACGC chr2:101456101-Alternative-A;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Variant C tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc ACGATGCCGTGA CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAacgatgccgtgaAGATCGAGACCCGACGC chr2:101456101-Variant-C;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative A tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc GGTATGCGACAG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAggtatgcgacagAGATCGAGACCCGACGC chr2:101456101-Alternative-A;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Alternative A tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc ATCGGTTCCAAG CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggAggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAatcggttccaagAGATCGAGACCCGACGC chr2:101456101-Alternative-A;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Variant C tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc CACAATCAGCCA CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAcacaatcagccaAGATCGAGACCCGACGC chr2:101456101-Variant-C;Patient-21 chr2:101456101-GC DeNovo Patient-21 intronic NPAS2 NA 4.95e-05 -0.28 0.41 -0.74 NPAS2 19487 Variant C tatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgc AGGAGATCATCA CGACGCGGTCTCTCTCTtatcagtaaggcttctggtcaacagtaggttattcatagttaagttttggCggaatcaaaggttatatactcatattttcaacttcatgagagttggtgcAGAGGGAGACGGACGTCTCAATAAaggagatcatcaAGATCGAGACCCGACGC chr2:101456101-Variant-C;Patient-21 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative A tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta GGCTCGTCATGA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAggctcgtcatgaAGATCGAGACCCGACGC chr2:101553631-Alternative-A;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative G tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta AACTCTGGCCGT CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAaactctggccgtAGATCGAGACCCGACGC chr2:101553631-Alternative-G;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative G tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CTTAGTGTAGGT CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAActtagtgtaggtAGATCGAGACCCGACGC chr2:101553631-Alternative-G;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Variant T tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CGGCGTTCAAGT CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAcggcgttcaagtAGATCGAGACCCGACGC chr2:101553631-Variant-T;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative A tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CTCGTGAAGTCA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAActcgtgaagtcaAGATCGAGACCCGACGC chr2:101553631-Alternative-A;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative G tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ACAGATGGAGAA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAacagatggagaaAGATCGAGACCCGACGC chr2:101553631-Alternative-G;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Reference C tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ACTCATAACGAG CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAactcataacgagAGATCGAGACCCGACGC chr2:101553631-Reference-C;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Variant T tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta GATTAGCTTCGA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAgattagcttcgaAGATCGAGACCCGACGC chr2:101553631-Variant-T;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Variant T tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta AATACGAGATGC CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAaatacgagatgcAGATCGAGACCCGACGC chr2:101553631-Variant-T;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative A tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ACACCTCGGTCA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAacacctcggtcaAGATCGAGACCCGACGC chr2:101553631-Alternative-A;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative A tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CTAGGCCGGTAA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAActaggccggtaaAGATCGAGACCCGACGC chr2:101553631-Alternative-A;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Variant T tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CGGTATATTAGG CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAcggtatattaggAGATCGAGACCCGACGC chr2:101553631-Variant-T;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Reference C tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta AGCGTTGTCGAC CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAagcgttgtcgacAGATCGAGACCCGACGC chr2:101553631-Reference-C;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Variant T tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ACGTAGCGAGCA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaTgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAacgtagcgagcaAGATCGAGACCCGACGC chr2:101553631-Variant-T;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Reference C tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta GAGAGTATCGAA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAgagagtatcgaaAGATCGAGACCCGACGC chr2:101553631-Reference-C;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative A tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta CGCATTCTGCAC CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaAgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAcgcattctgcacAGATCGAGACCCGACGC chr2:101553631-Alternative-A;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative G tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta AGCAAGTACGCA CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAagcaagtacgcaAGATCGAGACCCGACGC chr2:101553631-Alternative-G;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Reference C tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ATTAATGCGTCC CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAattaatgcgtccAGATCGAGACCCGACGC chr2:101553631-Reference-C;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Reference C tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta AAGCATACGCGG CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaCgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAaagcatacgcggAGATCGAGACCCGACGC chr2:101553631-Reference-C;Patient-87 chr2:101553631-CT Inherited Patient-87 intronic NPAS2 3.2e-05 4.95e-05 -0.11 1.32 -0.83 RPL31 65059 Alternative G tgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttcttta ACCGCCACGATT CGACGCGGTCTCTCTCTtgcatggatttttcagacattctgaaatgcttacggatccagttgagttaGgcaacccccacacccacccagccctgtagagtaatgtgaatgttctttaAGAGGGAGACGGACGTCTCAATAAaccgccacgattAGATCGAGACCCGACGC chr2:101553631-Alternative-G;Patient-87 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Reference G tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CTACCATTGGTT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAActaccattggttAGATCGAGACCCGACGC chr2:10256906-Reference-G;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Reference G tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt GGATGATGAATC CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAggatgatgaatcAGATCGAGACCCGACGC chr2:10256906-Reference-G;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Reference G tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CGTATCGTAACA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcgtatcgtaacaAGATCGAGACCCGACGC chr2:10256906-Reference-G;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative A tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt GGATAGATCGGC CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAggatagatcggcAGATCGAGACCCGACGC chr2:10256906-Alternative-A;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative A tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CATGTCCATTCT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcatgtccattctAGATCGAGACCCGACGC chr2:10256906-Alternative-A;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Reference G tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CTCTGAAGCGCT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAActctgaagcgctAGATCGAGACCCGACGC chr2:10256906-Reference-G;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Variant C tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AGACGCCAACAC CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAagacgccaacacAGATCGAGACCCGACGC chr2:10256906-Variant-C;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative A tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CAAGTAGCGGAA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcaagtagcggaaAGATCGAGACCCGACGC chr2:10256906-Alternative-A;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Variant C tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt GTCATGATCACA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAgtcatgatcacaAGATCGAGACCCGACGC chr2:10256906-Variant-C;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative T tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AGGTGAGTGTTA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAaggtgagtgttaAGATCGAGACCCGACGC chr2:10256906-Alternative-T;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Variant C tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt GATTCAATCCGT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAgattcaatccgtAGATCGAGACCCGACGC chr2:10256906-Variant-C;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Reference G tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CGCTAATAGCAA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattGcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcgctaatagcaaAGATCGAGACCCGACGC chr2:10256906-Reference-G;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Variant C tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AACTACCGTGAA CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAaactaccgtgaaAGATCGAGACCCGACGC chr2:10256906-Variant-C;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative A tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt ACGCTAGGACCT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAacgctaggacctAGATCGAGACCCGACGC chr2:10256906-Alternative-A;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative T tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CATCATACGCAG CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcatcatacgcagAGATCGAGACCCGACGC chr2:10256906-Alternative-T;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Variant C tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt GCAGCATCGCAT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattCcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAgcagcatcgcatAGATCGAGACCCGACGC chr2:10256906-Variant-C;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative T tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt CGGACTGGTTCT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAcggactggttctAGATCGAGACCCGACGC chr2:10256906-Alternative-T;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative A tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AGTAAGGTAAGG CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattAcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAagtaaggtaaggAGATCGAGACCCGACGC chr2:10256906-Alternative-A;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative T tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AGTAGTGTGGAT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAagtagtgtggatAGATCGAGACCCGACGC chr2:10256906-Alternative-T;Patient-78 chr2:10256906-GC Inherited Patient-78 intergenic 3.2e-05 0.000513 -0.15 0.97 0.15 RRM2 5788 Alternative T tgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttcttttt AGTTCGCACAAT CGACGCGGTCTCTCTCTtgggaggattgcttaaatccaggagttgaaggttgtagtgagccattattTcaccactgcactccagaccaggtgacagagcaagaccctgtttctttttAGAGGGAGACGGACGTCTCAATAAagttcgcacaatAGATCGAGACCCGACGC chr2:10256906-Alternative-T;Patient-78 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative G gatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcat GTCGAATACGTT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgtcgaatacgttAGATCGAGACCCGACGC chr2:103193883-Alternative-G;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative G gatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcat GTATTCTACGAG CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgtattctacgagAGATCGAGACCCGACGC chr2:103193883-Alternative-G;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative G gatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcat GCGCGGTACATA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgcgcggtacataAGATCGAGACCCGACGC chr2:103193883-Alternative-G;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Variant T gatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcat CGACGGTAGGAT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAcgacggtaggatAGATCGAGACCCGACGC chr2:103193883-Variant-T;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative G gatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcat GTAACGCCTTAT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgtaacgccttatAGATCGAGACCCGACGC chr2:103193883-Alternative-G;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Variant T gatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcat GGTAACGTACCA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAggtaacgtaccaAGATCGAGACCCGACGC chr2:103193883-Variant-T;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative G gatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcat GTGAACGACGAC CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagGtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgtgaacgacgacAGATCGAGACCCGACGC chr2:103193883-Alternative-G;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Variant T gatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcat AACACGCGTAAT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAaacacgcgtaatAGATCGAGACCCGACGC chr2:103193883-Variant-T;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Reference A gatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcat CACAATTGCGAT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAcacaattgcgatAGATCGAGACCCGACGC chr2:103193883-Reference-A;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Reference A gatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcat GGATACCGTTCG CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAggataccgttcgAGATCGAGACCCGACGC chr2:103193883-Reference-A;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative C gatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcat CTGCGTCTAATT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAActgcgtctaattAGATCGAGACCCGACGC chr2:103193883-Alternative-C;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Variant T gatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcat ACGTGACATCCA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAacgtgacatccaAGATCGAGACCCGACGC chr2:103193883-Variant-T;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Variant T gatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcat GATGAGTGCGGT CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagTtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgatgagtgcggtAGATCGAGACCCGACGC chr2:103193883-Variant-T;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Reference A gatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcat GAGAGTAGCTTA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgagagtagcttaAGATCGAGACCCGACGC chr2:103193883-Reference-A;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Reference A gatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcat GGCGATCGAGAA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAggcgatcgagaaAGATCGAGACCCGACGC chr2:103193883-Reference-A;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative C gatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcat AGCAAGATGCTA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAagcaagatgctaAGATCGAGACCCGACGC chr2:103193883-Alternative-C;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative C gatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcat ACTGGCCGCTTA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAactggccgcttaAGATCGAGACCCGACGC chr2:103193883-Alternative-C;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Reference A gatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcat AAGATCACGTGA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagAtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAaagatcacgtgaAGATCGAGACCCGACGC chr2:103193883-Reference-A;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative C gatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcat GCCTTGGCATGA CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgccttggcatgaAGATCGAGACCCGACGC chr2:103193883-Alternative-C;Patient-72 chr2:103193883-AT DeNovo Patient-72 intergenic 0.000191 0.00103 0.16 5.27 0 SLC9A2 42282 Alternative C gatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcat GCATCTTAGACG CGACGCGGTCTCTCTCTgatttgaagtcttctactactatattattgttgtcaatctctctctttagCtctattaatatttgttttatttatttagttgccctcatattgagtgcatAGAGGGAGACGGACGTCTCAATAAgcatcttagacgAGATCGAGACCCGACGC chr2:103193883-Alternative-C;Patient-72 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative A ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctct CGTATGTTCTAC CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAcgtatgttctacAGATCGAGACCCGACGC chr2:106305491-Alternative-A;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Reference G ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctct CTAACGACCACA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAActaacgaccacaAGATCGAGACCCGACGC chr2:106305491-Reference-G;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Reference G ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctct GCGGACATTCGT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAgcggacattcgtAGATCGAGACCCGACGC chr2:106305491-Reference-G;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative A ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctct GGTTGACAGACG CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAggttgacagacgAGATCGAGACCCGACGC chr2:106305491-Alternative-A;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Variant C ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctct GGAAGTGTTGAT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAggaagtgttgatAGATCGAGACCCGACGC chr2:106305491-Variant-C;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative T ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctct GTAACCTGACCG CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAgtaacctgaccgAGATCGAGACCCGACGC chr2:106305491-Alternative-T;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative T ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctct AAGCGGCTCCTA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAaagcggctcctaAGATCGAGACCCGACGC chr2:106305491-Alternative-T;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Reference G ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctct CAAGGTCAATGA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAcaaggtcaatgaAGATCGAGACCCGACGC chr2:106305491-Reference-G;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative A ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctct GCATCCGTCGAA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAgcatccgtcgaaAGATCGAGACCCGACGC chr2:106305491-Alternative-A;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Variant C ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctct CAGCGTGAACAT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAcagcgtgaacatAGATCGAGACCCGACGC chr2:106305491-Variant-C;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative A ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctct AGCTACGAAGAT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAagctacgaagatAGATCGAGACCCGACGC chr2:106305491-Alternative-A;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Variant C ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctct AAGCGGTAAGAA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAaagcggtaagaaAGATCGAGACCCGACGC chr2:106305491-Variant-C;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative T ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctct CGTCGTCTATAT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAcgtcgtctatatAGATCGAGACCCGACGC chr2:106305491-Alternative-T;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative T ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctct GATATTCACCGA CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAgatattcaccgaAGATCGAGACCCGACGC chr2:106305491-Alternative-T;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative A ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctct GGTAGCTACAAT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttAggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAggtagctacaatAGATCGAGACCCGACGC chr2:106305491-Alternative-A;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Alternative T ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctct ACACGGTCGAAG CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttTggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAacacggtcgaagAGATCGAGACCCGACGC chr2:106305491-Alternative-T;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Reference G ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctct CGGATGCTAGGT CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAcggatgctaggtAGATCGAGACCCGACGC chr2:106305491-Reference-G;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Variant C ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctct ATCGGTGAGTGG CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAatcggtgagtggAGATCGAGACCCGACGC chr2:106305491-Variant-C;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Reference G ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctct GGACGTGACTTC CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttGggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAggacgtgacttcAGATCGAGACCCGACGC chr2:106305491-Reference-G;Patient-90 chr2:106305491-GC DeNovo Patient-90 intergenic 0.000638 0.000513 -0.13 1.17 0.14 NCK2 56028 Variant C ggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctct ATACGCAGACGG CGACGCGGTCTCTCTCTggcagctgtgcccccagctcagcagggctaccctctgcccaaatctgcttCggcggaacatccctgattggctcagcgccagccccagcacccccgctctAGAGGGAGACGGACGTCTCAATAAatacgcagacggAGATCGAGACCCGACGC chr2:106305491-Variant-C;Patient-90 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Reference T tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CTTGGTCGACGA CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAActtggtcgacgaAGATCGAGACCCGACGC chr2:108461296-Reference-T;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative A tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CAGATTGTGCAT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcagattgtgcatAGATCGAGACCCGACGC chr2:108461296-Alternative-A;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative C tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CTTATGATCGTC CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAActtatgatcgtcAGATCGAGACCCGACGC chr2:108461296-Alternative-C;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Reference T tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CGATGTGCGTGT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcgatgtgcgtgtAGATCGAGACCCGACGC chr2:108461296-Reference-T;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative A tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CTATACTACACG CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAActatactacacgAGATCGAGACCCGACGC chr2:108461296-Alternative-A;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative C tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CAACGCTCTAAC CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcaacgctctaacAGATCGAGACCCGACGC chr2:108461296-Alternative-C;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative C tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg ATTGTTCGACCT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAattgttcgacctAGATCGAGACCCGACGC chr2:108461296-Alternative-C;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative A tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CGAACATCACCA CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcgaacatcaccaAGATCGAGACCCGACGC chr2:108461296-Alternative-A;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Reference T tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg GATTCAATGTGC CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAgattcaatgtgcAGATCGAGACCCGACGC chr2:108461296-Reference-T;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Variant G tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg GGTATCCTAGAT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAggtatcctagatAGATCGAGACCCGACGC chr2:108461296-Variant-G;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Reference T tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg ATCTTGGCATGT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAatcttggcatgtAGATCGAGACCCGACGC chr2:108461296-Reference-T;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Variant G tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CGTCCGGTGTAA CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcgtccggtgtaaAGATCGAGACCCGACGC chr2:108461296-Variant-G;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Variant G tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg AAGGACGAAGAT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAaaggacgaagatAGATCGAGACCCGACGC chr2:108461296-Variant-G;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Reference T tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg ACGCGTCTAGTC CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttTttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAacgcgtctagtcAGATCGAGACCCGACGC chr2:108461296-Reference-T;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative A tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg AATATACCTGCG CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAaatatacctgcgAGATCGAGACCCGACGC chr2:108461296-Alternative-A;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative C tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg CAACACAGCAGT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAcaacacagcagtAGATCGAGACCCGACGC chr2:108461296-Alternative-C;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Variant G tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg GATTGATCACGA CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAgattgatcacgaAGATCGAGACCCGACGC chr2:108461296-Variant-G;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Variant G tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg GTAGCGTGAGCT CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttGttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAgtagcgtgagctAGATCGAGACCCGACGC chr2:108461296-Variant-G;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative A tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg GTCGTGGTAGTC CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttAttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAgtcgtggtagtcAGATCGAGACCCGACGC chr2:108461296-Alternative-A;Patient-81 chr2:108461296-TG DeNovo Patient-81 intronic RGPD4 NA 9.9e-05 -0.17 0.86 0 RGPD4 17907 Alternative C tgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtg ATAGGCGCTGAG CGACGCGGTCTCTCTCTtgtatgtgggttcctttctttctttctttctttcttttttgtttttttttCttttttttttttttgagagggagtcttgctctgtcaccaggctggagtgAGAGGGAGACGGACGTCTCAATAAataggcgctgagAGATCGAGACCCGACGC chr2:108461296-Alternative-C;Patient-81 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative A agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CGACCATTGCGA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAcgaccattgcgaAGATCGAGACCCGACGC chr2:109008193-Alternative-A;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative A agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa ACGGCCTGATGT CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAacggcctgatgtAGATCGAGACCCGACGC chr2:109008193-Alternative-A;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Reference G agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa ATCTTGCGAATC CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAatcttgcgaatcAGATCGAGACCCGACGC chr2:109008193-Reference-G;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative T agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa ATCCGCGATTCG CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAatccgcgattcgAGATCGAGACCCGACGC chr2:109008193-Alternative-T;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Reference G agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GTTCGTCGACAG CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAgttcgtcgacagAGATCGAGACCCGACGC chr2:109008193-Reference-G;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative T agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa ACGTCGGCTATA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAacgtcggctataAGATCGAGACCCGACGC chr2:109008193-Alternative-T;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative T agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CTACCGGAGTCT CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAActaccggagtctAGATCGAGACCCGACGC chr2:109008193-Alternative-T;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Variant C agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GGTGGACTTCGT CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAggtggacttcgtAGATCGAGACCCGACGC chr2:109008193-Variant-C;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Reference G agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GATGCAGGTCAT CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAgatgcaggtcatAGATCGAGACCCGACGC chr2:109008193-Reference-G;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Reference G agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CTTGCGTAGCCA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAActtgcgtagccaAGATCGAGACCCGACGC chr2:109008193-Reference-G;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative T agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GTGCGAGAGCAA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAgtgcgagagcaaAGATCGAGACCCGACGC chr2:109008193-Alternative-T;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative A agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CTTGATGGTATC CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAActtgatggtatcAGATCGAGACCCGACGC chr2:109008193-Alternative-A;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative T agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GATTGACCTCGG CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgTagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAgattgacctcggAGATCGAGACCCGACGC chr2:109008193-Alternative-T;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Reference G agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CGTGGCTTACCT CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgGagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAcgtggcttacctAGATCGAGACCCGACGC chr2:109008193-Reference-G;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Variant C agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GGCGTCCACTAA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAggcgtccactaaAGATCGAGACCCGACGC chr2:109008193-Variant-C;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative A agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa GATAGCATACGA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAgatagcatacgaAGATCGAGACCCGACGC chr2:109008193-Alternative-A;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Variant C agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa AGTACTCACCGC CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAagtactcaccgcAGATCGAGACCCGACGC chr2:109008193-Variant-C;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Alternative A agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa AGTGCTTGATGG CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgAagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAagtgcttgatggAGATCGAGACCCGACGC chr2:109008193-Alternative-A;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Variant C agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CGTTGGCAATCG CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAcgttggcaatcgAGATCGAGACCCGACGC chr2:109008193-Variant-C;Patient-86 chr2:109008193-GC DeNovo Patient-86 intergenic NA 0.000512821 0.22 6.16 0.05 GCC2 56823 Variant C agaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaa CGGTGAATCGCA CGACGCGGTCTCTCTCTagaatatcaacaaagagataaaaactattataacaaccaaacaaattctgCagctaaaaaatcaataaccaaagttgaaaattcacatacagttcaaaaaAGAGGGAGACGGACGTCTCAATAAcggtgaatcgcaAGATCGAGACCCGACGC chr2:109008193-Variant-C;Patient-86 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative A agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagt ACAAGCGCGAAG CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAacaagcgcgaagAGATCGAGACCCGACGC chr2:109078941-Alternative-A;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative A agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GTCAGTACGTTC CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgtcagtacgttcAGATCGAGACCCGACGC chr2:109078941-Alternative-A;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Reference C agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagt ATACGGTGGATA CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAatacggtggataAGATCGAGACCCGACGC chr2:109078941-Reference-C;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative A agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CGGCGTCAAGAA CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAcggcgtcaagaaAGATCGAGACCCGACGC chr2:109078941-Alternative-A;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative A agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CGACATGGCTGT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAcgacatggctgtAGATCGAGACCCGACGC chr2:109078941-Alternative-A;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Reference C agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GATAATACCGGT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgataataccggtAGATCGAGACCCGACGC chr2:109078941-Reference-C;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Reference C agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GTAATCCGGTAT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgtaatccggtatAGATCGAGACCCGACGC chr2:109078941-Reference-C;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Reference C agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CTCATACGGTGG CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAActcatacggtggAGATCGAGACCCGACGC chr2:109078941-Reference-C;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative A agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CGGTGCAAGTCA CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaAtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAcggtgcaagtcaAGATCGAGACCCGACGC chr2:109078941-Alternative-A;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative T agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GTTCGTAGGCGT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgttcgtaggcgtAGATCGAGACCCGACGC chr2:109078941-Alternative-T;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Reference C agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagt ACTTGCATGCGC CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaCtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAacttgcatgcgcAGATCGAGACCCGACGC chr2:109078941-Reference-C;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative T agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GGAATTCGTTGT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAggaattcgttgtAGATCGAGACCCGACGC chr2:109078941-Alternative-T;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative T agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagt AATCTAGGTCGC CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAaatctaggtcgcAGATCGAGACCCGACGC chr2:109078941-Alternative-T;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Variant G agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagt AGAACCGATTCT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAagaaccgattctAGATCGAGACCCGACGC chr2:109078941-Variant-G;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative T agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagt ATAGGTGTACGA CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAataggtgtacgaAGATCGAGACCCGACGC chr2:109078941-Alternative-T;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Variant G agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CTGCGAACGTGT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAActgcgaacgtgtAGATCGAGACCCGACGC chr2:109078941-Variant-G;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Alternative T agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CTATATCAGGCA CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaTtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAActatatcaggcaAGATCGAGACCCGACGC chr2:109078941-Alternative-T;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Variant G agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GCAGACGAGTAT CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgcagacgagtatAGATCGAGACCCGACGC chr2:109078941-Variant-G;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Variant G agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagt CGCGGACTTAAG CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAcgcggacttaagAGATCGAGACCCGACGC chr2:109078941-Variant-G;Patient-91 chr2:109078941-CG Inherited Patient-91 intronic GCC2 3.6e-05 4.95e-05 -0.18 0.8 0 GCC2 13923 Variant G agtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagt GTGGCAATCGAC CGACGCGGTCTCTCTCTagtgagccgagatcatgccactgcactccagcctggggggcagagcgagaGtcagtctcaaaataaataaataaataaatatttggtcactttatggagtAGAGGGAGACGGACGTCTCAATAAgtggcaatcgacAGATCGAGACCCGACGC chr2:109078941-Variant-G;Patient-91 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative G ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GGTCGTCGATGT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAggtcgtcgatgtAGATCGAGACCCGACGC chr2:109354797-Alternative-G;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Variant T ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CGACGGTTACGT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAcgacggttacgtAGATCGAGACCCGACGC chr2:109354797-Variant-T;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative G ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CTCTTACTTAGG CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAActcttacttaggAGATCGAGACCCGACGC chr2:109354797-Alternative-G;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative G ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CGCATAAGTGAA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAcgcataagtgaaAGATCGAGACCCGACGC chr2:109354797-Alternative-G;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative A ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CGTGCCGTACAT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAcgtgccgtacatAGATCGAGACCCGACGC chr2:109354797-Alternative-A;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative A ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga AACGTGGTTGTT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAaacgtggttgttAGATCGAGACCCGACGC chr2:109354797-Alternative-A;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative A ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GATATGAGTGGT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAgatatgagtggtAGATCGAGACCCGACGC chr2:109354797-Alternative-A;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Reference C ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GTACGTTACGCA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAgtacgttacgcaAGATCGAGACCCGACGC chr2:109354797-Reference-C;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Variant T ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CTGTGTTCCATA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAActgtgttccataAGATCGAGACCCGACGC chr2:109354797-Variant-T;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative A ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CAACCGGTTGCT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAcaaccggttgctAGATCGAGACCCGACGC chr2:109354797-Alternative-A;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Reference C ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga ATATGACGCACG CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAatatgacgcacgAGATCGAGACCCGACGC chr2:109354797-Reference-C;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Reference C ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga AACAAGCTCGCG CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAaacaagctcgcgAGATCGAGACCCGACGC chr2:109354797-Reference-C;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative G ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga AGGTACGGACAT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAaggtacggacatAGATCGAGACCCGACGC chr2:109354797-Alternative-G;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Variant T ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga AAGTGAATCGCA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAaagtgaatcgcaAGATCGAGACCCGACGC chr2:109354797-Variant-T;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Variant T ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga CGACTATCGAGT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAcgactatcgagtAGATCGAGACCCGACGC chr2:109354797-Variant-T;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Reference C ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GATCCGAGGAGT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAgatccgaggagtAGATCGAGACCCGACGC chr2:109354797-Reference-C;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Reference C ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GTGAGACAAGTT CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgCtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAgtgagacaagttAGATCGAGACCCGACGC chr2:109354797-Reference-C;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Variant T ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga AGCGTTGGAACG CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgTtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAagcgttggaacgAGATCGAGACCCGACGC chr2:109354797-Variant-T;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative G ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga ACATGTCGAGAA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgGtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAacatgtcgagaaAGATCGAGACCCGACGC chr2:109354797-Alternative-G;Patient-75 chr2:109354797-CT DeNovo Patient-75 intronic RANBP2 NA 0.000198 -0.06 1.8 0 RANBP2 18859 Alternative A ggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttga GGATCTACGCCA CGACGCGGTCTCTCTCTggtcttgatctcctgaccttgtgatccgcccgcctcggcctcccaaagtgAtgggattacaggtgtgagccaccgcgcccagctggtcctgatctcttgaAGAGGGAGACGGACGTCTCAATAAggatctacgccaAGATCGAGACCCGACGC chr2:109354797-Alternative-A;Patient-75 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Reference T gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag ACTAATGCGCGC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAactaatgcgcgcAGATCGAGACCCGACGC chr2:110868774-Reference-T;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative G gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GATCATATGCGT CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgatcatatgcgtAGATCGAGACCCGACGC chr2:110868774-Alternative-G;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative G gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag ATACCGTGAGAA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAataccgtgagaaAGATCGAGACCCGACGC chr2:110868774-Alternative-G;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Variant C gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag AGTCAAGCGCAC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAagtcaagcgcacAGATCGAGACCCGACGC chr2:110868774-Variant-C;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Reference T gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag CAACGAGAATCA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAcaacgagaatcaAGATCGAGACCCGACGC chr2:110868774-Reference-T;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative A gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GTCGGAACACAG CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgtcggaacacagAGATCGAGACCCGACGC chr2:110868774-Alternative-A;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative A gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag AACAACCACGCG CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAaacaaccacgcgAGATCGAGACCCGACGC chr2:110868774-Alternative-A;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative A gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag CGAGTACTAGCT CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAcgagtactagctAGATCGAGACCCGACGC chr2:110868774-Alternative-A;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Variant C gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GCGATGCTACGA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgcgatgctacgaAGATCGAGACCCGACGC chr2:110868774-Variant-C;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative A gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GTGCGATCGCTA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgtgcgatcgctaAGATCGAGACCCGACGC chr2:110868774-Alternative-A;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Reference T gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GGTGGTGTGAAC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAggtggtgtgaacAGATCGAGACCCGACGC chr2:110868774-Reference-T;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Reference T gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GCGACATTACAC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgcgacattacacAGATCGAGACCCGACGC chr2:110868774-Reference-T;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Reference T gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag ACGACATTGACC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaTagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAacgacattgaccAGATCGAGACCCGACGC chr2:110868774-Reference-T;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Variant C gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GACGGCGAAGTT CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgacggcgaagttAGATCGAGACCCGACGC chr2:110868774-Variant-C;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Variant C gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag CAGCGGATGTGA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAcagcggatgtgaAGATCGAGACCCGACGC chr2:110868774-Variant-C;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Variant C gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag ACACGACGGACA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaCagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAacacgacggacaAGATCGAGACCCGACGC chr2:110868774-Variant-C;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative G gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag GACGCCGGTATA CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAgacgccggtataAGATCGAGACCCGACGC chr2:110868774-Alternative-G;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative G gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag CAGTCTTGTCAT CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAcagtcttgtcatAGATCGAGACCCGACGC chr2:110868774-Alternative-G;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative A gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag CGGCAACTAAGG CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaAagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAcggcaactaaggAGATCGAGACCCGACGC chr2:110868774-Alternative-A;Patient-53 chr2:110868774-TC DeNovo Patient-53 intronic MALL NA 4.95e-05 0.14 4.91 0 MALL 5368 Alternative G gagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaag ACTTCGAGAATC CGACGCGGTCTCTCTCTgagaactgaaacaagacaaggatgcccactctcaccactcctcttcaccaGagtactggaagtcctagccagagcaatcagacaagagaaagaaataaagAGAGGGAGACGGACGTCTCAATAAacttcgagaatcAGATCGAGACCCGACGC chr2:110868774-Alternative-G;Patient-53 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative G attctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagac GATAGCTCTCGG CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAgatagctctcggAGATCGAGACCCGACGC chr2:11119215-Alternative-G;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Reference C attctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagac ATCTGGTAGGCG CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAatctggtaggcgAGATCGAGACCCGACGC chr2:11119215-Reference-C;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Variant T attctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagac CGAACCGAATTA CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAcgaaccgaattaAGATCGAGACCCGACGC chr2:11119215-Variant-T;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Variant T attctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagac CTAATGGCTAGT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAActaatggctagtAGATCGAGACCCGACGC chr2:11119215-Variant-T;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative A attctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagac CGTTGCGTAACG CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAcgttgcgtaacgAGATCGAGACCCGACGC chr2:11119215-Alternative-A;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Variant T attctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagac ATCGACCACATT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAatcgaccacattAGATCGAGACCCGACGC chr2:11119215-Variant-T;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Variant T attctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagac ACCTATTCGACT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAacctattcgactAGATCGAGACCCGACGC chr2:11119215-Variant-T;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative A attctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagac ATAGCGAGAATC CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAatagcgagaatcAGATCGAGACCCGACGC chr2:11119215-Alternative-A;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative G attctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagac GCAGCGTCAAGT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAgcagcgtcaagtAGATCGAGACCCGACGC chr2:11119215-Alternative-G;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative G attctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagac ACGCATGCGCTT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAacgcatgcgcttAGATCGAGACCCGACGC chr2:11119215-Alternative-G;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Reference C attctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagac GTGTCACAGCGT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAgtgtcacagcgtAGATCGAGACCCGACGC chr2:11119215-Reference-C;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Reference C attctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagac ATTCCTAGGTGT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAattcctaggtgtAGATCGAGACCCGACGC chr2:11119215-Reference-C;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Variant T attctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagac ATACATTCGCCT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaTacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAatacattcgcctAGATCGAGACCCGACGC chr2:11119215-Variant-T;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative A attctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagac CGCTGCAACGTT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAcgctgcaacgttAGATCGAGACCCGACGC chr2:11119215-Alternative-A;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative A attctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagac GGATGTGGACAC CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAggatgtggacacAGATCGAGACCCGACGC chr2:11119215-Alternative-A;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative G attctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagac ACCGCAATAAGA CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAaccgcaataagaAGATCGAGACCCGACGC chr2:11119215-Alternative-G;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Reference C attctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagac CTCTATTCTGAG CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAActctattctgagAGATCGAGACCCGACGC chr2:11119215-Reference-C;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Reference C attctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagac AATGCGTAGTCT CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaCacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAaatgcgtagtctAGATCGAGACCCGACGC chr2:11119215-Reference-C;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative G attctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagac CGACACGGAACA CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaGacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAcgacacggaacaAGATCGAGACCCGACGC chr2:11119215-Alternative-G;Patient-43 chr2:11119215-CT DeNovo Patient-43 intergenic 0.000701 0.00103 0.05 3.48 -0.33 KCNF1 67151 Alternative A attctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagac AGTAGGTAATCG CGACGCGGTCTCTCTCTattctgccccgacacccacttcatatggcaaggggaatattcctttgacaAacacttactgagcacctgctctgggccagactgagggaggtcatcagacAGAGGGAGACGGACGTCTCAATAAagtaggtaatcgAGATCGAGACCCGACGC chr2:11119215-Alternative-A;Patient-43 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Reference T tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GCAGACGATCCT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAgcagacgatcctAGATCGAGACCCGACGC chr2:112618710-Reference-T;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative A tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CTAGCTGATCTT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAActagctgatcttAGATCGAGACCCGACGC chr2:112618710-Alternative-A;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Reference T tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact ACACCGGCGTAA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAacaccggcgtaaAGATCGAGACCCGACGC chr2:112618710-Reference-T;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Reference T tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact ATTGGATCGAGT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAattggatcgagtAGATCGAGACCCGACGC chr2:112618710-Reference-T;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative A tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GCGAGTAACAAG CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAgcgagtaacaagAGATCGAGACCCGACGC chr2:112618710-Alternative-A;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative A tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact ACGACATTCTGA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAacgacattctgaAGATCGAGACCCGACGC chr2:112618710-Alternative-A;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative A tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact AGTTGGCGATAA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAagttggcgataaAGATCGAGACCCGACGC chr2:112618710-Alternative-A;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative A tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CGAGCAACGTGA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagAagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAcgagcaacgtgaAGATCGAGACCCGACGC chr2:112618710-Alternative-A;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Reference T tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact ATTGAACGACGC CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAattgaacgacgcAGATCGAGACCCGACGC chr2:112618710-Reference-T;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Variant C tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CACGCGTCATGT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAcacgcgtcatgtAGATCGAGACCCGACGC chr2:112618710-Variant-C;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Reference T tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GCGCGTGTAGTT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagTagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAgcgcgtgtagttAGATCGAGACCCGACGC chr2:112618710-Reference-T;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Variant C tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact AGATAGACCACG CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAagatagaccacgAGATCGAGACCCGACGC chr2:112618710-Variant-C;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative G tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GGTTGCATTCTT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAggttgcattcttAGATCGAGACCCGACGC chr2:112618710-Alternative-G;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative G tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact ACACCTCTAAGA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAacacctctaagaAGATCGAGACCCGACGC chr2:112618710-Alternative-G;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative G tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CTAGTTATCGGT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAActagttatcggtAGATCGAGACCCGACGC chr2:112618710-Alternative-G;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Variant C tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GGAGGTCGTCAA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAggaggtcgtcaaAGATCGAGACCCGACGC chr2:112618710-Variant-C;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Variant C tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CTATGACCTGTT CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAActatgacctgttAGATCGAGACCCGACGC chr2:112618710-Variant-C;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative G tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact CTAGCTACGCAA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAActagctacgcaaAGATCGAGACCCGACGC chr2:112618710-Alternative-G;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Variant C tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GGTTCGAACATA CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagCagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAggttcgaacataAGATCGAGACCCGACGC chr2:112618710-Variant-C;Patient-55 chr2:112618710-TC Inherited Patient-55 intronic ANAPC1 NA 4.95e-05 -0.01 2.47 0.24 ANAPC1 23556 Alternative G tttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgact GTCGTCTTGTGC CGACGCGGTCTCTCTCTtttttttctttttcagacagtctcactctgttgcccaagctggagtgcagGagtgtgctcttggctcactgcaacctccaactcccaggttcaaatgactAGAGGGAGACGGACGTCTCAATAAgtcgtcttgtgcAGATCGAGACCCGACGC chr2:112618710-Alternative-G;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative G tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CTGGTGTCTTAT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAActggtgtcttatAGATCGAGACCCGACGC chr2:113743873-Alternative-G;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative G tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa AAGATATCGGCA CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAaagatatcggcaAGATCGAGACCCGACGC chr2:113743873-Alternative-G;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Reference C tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CTAGCTGATCGG CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAActagctgatcggAGATCGAGACCCGACGC chr2:113743873-Reference-C;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Reference C tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa AATCGTATGCCT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAaatcgtatgcctAGATCGAGACCCGACGC chr2:113743873-Reference-C;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Reference C tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa ATCGAGTTCGAC CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAatcgagttcgacAGATCGAGACCCGACGC chr2:113743873-Reference-C;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Reference C tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GTGAATGCGGAG CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAgtgaatgcggagAGATCGAGACCCGACGC chr2:113743873-Reference-C;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative G tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GGTGCGAAGTAT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAggtgcgaagtatAGATCGAGACCCGACGC chr2:113743873-Alternative-G;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Reference C tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa AGTCGTTAACGT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaCgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAagtcgttaacgtAGATCGAGACCCGACGC chr2:113743873-Reference-C;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative A tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GGTTACGCGCAA CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAggttacgcgcaaAGATCGAGACCCGACGC chr2:113743873-Alternative-A;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative A tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa AGGACCATCATT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAaggaccatcattAGATCGAGACCCGACGC chr2:113743873-Alternative-A;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Variant T tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GTGACCGTAAGG CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAgtgaccgtaaggAGATCGAGACCCGACGC chr2:113743873-Variant-T;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative A tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa ATACGATTCGAC CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAatacgattcgacAGATCGAGACCCGACGC chr2:113743873-Alternative-A;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative A tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CAGTAGAGTACC CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAcagtagagtaccAGATCGAGACCCGACGC chr2:113743873-Alternative-A;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative G tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CTGAGTGATAGA CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAActgagtgatagaAGATCGAGACCCGACGC chr2:113743873-Alternative-G;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Variant T tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CGTTCGTCTAAT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAcgttcgtctaatAGATCGAGACCCGACGC chr2:113743873-Variant-T;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Variant T tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CGATCTAGCGGT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAcgatctagcggtAGATCGAGACCCGACGC chr2:113743873-Variant-T;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Variant T tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa ATTACGGAACGA CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAattacggaacgaAGATCGAGACCCGACGC chr2:113743873-Variant-T;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative A tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GATTCCTGTTGT CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaAgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAgattcctgttgtAGATCGAGACCCGACGC chr2:113743873-Alternative-A;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Variant T tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa GACGCCGTATCA CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaTgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAgacgccgtatcaAGATCGAGACCCGACGC chr2:113743873-Variant-T;Patient-55 chr2:113743873-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.19 0.79 -0.47 IL37 73324 Alternative G tcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaa CGAGATCGTTCG CGACGCGGTCTCTCTCTtcccccttcaccctctgccatgattggaagcttcctgaggcctccctagaGgccaaacagataccaataccaagcttcctgtaaagcctgcagaacagaaAGAGGGAGACGGACGTCTCAATAAcgagatcgttcgAGATCGAGACCCGACGC chr2:113743873-Alternative-G;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative T cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa CATAGCGGCAAT CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAcatagcggcaatAGATCGAGACCCGACGC chr2:114672335-Alternative-T;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative T cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GAATTGTCGAAG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgaattgtcgaagAGATCGAGACCCGACGC chr2:114672335-Alternative-T;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative T cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GTCGTGTGTGCA CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgtcgtgtgtgcaAGATCGAGACCCGACGC chr2:114672335-Alternative-T;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Variant A cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GATAAGTCGAAC CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgataagtcgaacAGATCGAGACCCGACGC chr2:114672335-Variant-A;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Variant A cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa AGTATTCCGCGG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAagtattccgcggAGATCGAGACCCGACGC chr2:114672335-Variant-A;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative T cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GATCGCAGAGGT CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgatcgcagaggtAGATCGAGACCCGACGC chr2:114672335-Alternative-T;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Variant A cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa CAATACGCCACA CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAcaatacgccacaAGATCGAGACCCGACGC chr2:114672335-Variant-A;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Variant A cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa ACGATTGCTGAG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAacgattgctgagAGATCGAGACCCGACGC chr2:114672335-Variant-A;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative C cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa AGTTGTGCATCA CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAagttgtgcatcaAGATCGAGACCCGACGC chr2:114672335-Alternative-C;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative T cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GTCGTTGATCGG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttTatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgtcgttgatcggAGATCGAGACCCGACGC chr2:114672335-Alternative-T;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative C cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa CGCCAGTATAAC CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAcgccagtataacAGATCGAGACCCGACGC chr2:114672335-Alternative-C;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Variant A cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GCCGAAGCTATA CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttAatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgccgaagctataAGATCGAGACCCGACGC chr2:114672335-Variant-A;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative C cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GTGACTAGATGA CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgtgactagatgaAGATCGAGACCCGACGC chr2:114672335-Alternative-C;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative C cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa ACATGCGACATT CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAacatgcgacattAGATCGAGACCCGACGC chr2:114672335-Alternative-C;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Alternative C cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa AGTCTCGGATAT CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttCatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAagtctcggatatAGATCGAGACCCGACGC chr2:114672335-Alternative-C;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Reference G cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa CTAAGACTAAGG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAActaagactaaggAGATCGAGACCCGACGC chr2:114672335-Reference-G;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Reference G cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa CAGGTAGCTCGT CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAcaggtagctcgtAGATCGAGACCCGACGC chr2:114672335-Reference-G;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Reference G cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GTTCGCTACGTC CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgttcgctacgtcAGATCGAGACCCGACGC chr2:114672335-Reference-G;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Reference G cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GGAACTTACCAC CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAggaacttaccacAGATCGAGACCCGACGC chr2:114672335-Reference-G;Patient-55 chr2:114672335-GA Inherited Patient-55 intronic ACTR3 NA 4.95e-05 0.08 3.96 1.47 ACTR3 24823 Reference G cctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaa GTTAGATAGTGG CGACGCGGTCTCTCTCTcctcactttctagaaacaaacttatttgacttgtgtgtttctcctattttGatacacttttctaggaatcaattatgtaagaacttaggctactgcctaaAGAGGGAGACGGACGTCTCAATAAgttagatagtggAGATCGAGACCCGACGC chr2:114672335-Reference-G;Patient-55 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Reference G agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt GATTGCGATTGA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAgattgcgattgaAGATCGAGACCCGACGC chr2:11526390-Reference-G;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Reference G agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt GCATATCTATGG CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAgcatatctatggAGATCGAGACCCGACGC chr2:11526390-Reference-G;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative A agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CAGAGATCGAGT CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcagagatcgagtAGATCGAGACCCGACGC chr2:11526390-Alternative-A;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Reference G agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CGCGCATTCGAA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcgcgcattcgaaAGATCGAGACCCGACGC chr2:11526390-Reference-G;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Reference G agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CGGAATGTAAGA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcggaatgtaagaAGATCGAGACCCGACGC chr2:11526390-Reference-G;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative A agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ACGCGACACATC CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAacgcgacacatcAGATCGAGACCCGACGC chr2:11526390-Alternative-A;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Reference G agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CACGTACGACTA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaGcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcacgtacgactaAGATCGAGACCCGACGC chr2:11526390-Reference-G;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Variant T agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ACTAATCGCGAC CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAactaatcgcgacAGATCGAGACCCGACGC chr2:11526390-Variant-T;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative A agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ACTAGGCTTAGT CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAactaggcttagtAGATCGAGACCCGACGC chr2:11526390-Alternative-A;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Variant T agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt GAATGGCGGTAC CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAgaatggcggtacAGATCGAGACCCGACGC chr2:11526390-Variant-T;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Variant T agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt GATGTATCGCGG CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAgatgtatcgcggAGATCGAGACCCGACGC chr2:11526390-Variant-T;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Variant T agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt AGATGCGGCACA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAagatgcggcacaAGATCGAGACCCGACGC chr2:11526390-Variant-T;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Variant T agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt GTCTAGACTACA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaTcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAgtctagactacaAGATCGAGACCCGACGC chr2:11526390-Variant-T;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative C agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CGTTCTGCAACC CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcgttctgcaaccAGATCGAGACCCGACGC chr2:11526390-Alternative-C;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative A agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ACATGCGAACAT CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAacatgcgaacatAGATCGAGACCCGACGC chr2:11526390-Alternative-A;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative A agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CAGTAACCAAGA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaAcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAcagtaaccaagaAGATCGAGACCCGACGC chr2:11526390-Alternative-A;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative C agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ATACTTCGTCGT CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAatacttcgtcgtAGATCGAGACCCGACGC chr2:11526390-Alternative-C;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative C agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt ACCTTACGTAAG CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAaccttacgtaagAGATCGAGACCCGACGC chr2:11526390-Alternative-C;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative C agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt CTCGCATAATGA CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAActcgcataatgaAGATCGAGACCCGACGC chr2:11526390-Alternative-C;Patient-110 chr2:11526390-GT DeNovo Patient-110 intergenic NA 3.98e-05 0.01 2.83 1.57 ROCK2 41678 Alternative C agagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagtt AATGACGAGCAT CGACGCGGTCTCTCTCTagagccctggaatgaagcaacgctgcctacaccttgccttcagatttctaCcctccggagctgtagggaaataaattcctgctgtttaagcccttcagttAGAGGGAGACGGACGTCTCAATAAaatgacgagcatAGATCGAGACCCGACGC chr2:11526390-Alternative-C;Patient-110 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative G acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CTTACTGACGAG CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAActtactgacgagAGATCGAGACCCGACGC chr2:11633476-Alternative-G;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative G acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt ACTCTCGTACTA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAactctcgtactaAGATCGAGACCCGACGC chr2:11633476-Alternative-G;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Reference T acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt AAGGCCGCTTAA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAaaggccgcttaaAGATCGAGACCCGACGC chr2:11633476-Reference-T;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative G acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CGTTGGTTAGAA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAcgttggttagaaAGATCGAGACCCGACGC chr2:11633476-Alternative-G;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative G acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GATATCGAACCG CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgatatcgaaccgAGATCGAGACCCGACGC chr2:11633476-Alternative-G;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative G acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GATAGGCGGTAC CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggGattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgataggcggtacAGATCGAGACCCGACGC chr2:11633476-Alternative-G;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Reference T acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt ATCACGCCGTCA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAatcacgccgtcaAGATCGAGACCCGACGC chr2:11633476-Reference-T;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Reference T acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CGCTAACCGAAC CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAcgctaaccgaacAGATCGAGACCCGACGC chr2:11633476-Reference-T;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Reference T acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GAGTAGTAGAAG CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgagtagtagaagAGATCGAGACCCGACGC chr2:11633476-Reference-T;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative A acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GTCGAGAGCCTT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgtcgagagccttAGATCGAGACCCGACGC chr2:11633476-Alternative-A;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative A acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt ACATCATCGTCT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAacatcatcgtctAGATCGAGACCCGACGC chr2:11633476-Alternative-A;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative A acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt ACCGTAAGTACT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAaccgtaagtactAGATCGAGACCCGACGC chr2:11633476-Alternative-A;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Variant C acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CTCAATCATCCT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAActcaatcatcctAGATCGAGACCCGACGC chr2:11633476-Variant-C;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Variant C acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt AGTTGTAAGGCA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAagttgtaaggcaAGATCGAGACCCGACGC chr2:11633476-Variant-C;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Variant C acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt ACTAATCTCGCT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAactaatctcgctAGATCGAGACCCGACGC chr2:11633476-Variant-C;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Reference T acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CGCCTAGCTAAC CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggTattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAcgcctagctaacAGATCGAGACCCGACGC chr2:11633476-Reference-T;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Variant C acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GGTCGTGGTTCA CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAggtcgtggttcaAGATCGAGACCCGACGC chr2:11633476-Variant-C;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Variant C acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt CAAGTTACGCAT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggCattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAcaagttacgcatAGATCGAGACCCGACGC chr2:11633476-Variant-C;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative A acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GTTCGTCTAACT CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgttcgtctaactAGATCGAGACCCGACGC chr2:11633476-Alternative-A;Patient-91 chr2:11633476-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 -0.29 0.4 -0.47 E2F6 27172 Alternative A acagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagt GAATCAGGATAC CGACGCGGTCTCTCTCTacagacagggtgtgggggagggtgaaactattccacctcagatcatcaggAattagattctcataaggagcgtgcaacctggatcccttgtaggcgcagtAGAGGGAGACGGACGTCTCAATAAgaatcaggatacAGATCGAGACCCGACGC chr2:11633476-Alternative-A;Patient-91 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative G tgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg ATTCCGTGTGTT CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAattccgtgtgttAGATCGAGACCCGACGC chr2:118475883-Alternative-G;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Reference T tgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GATCCGTATGCA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgatccgtatgcaAGATCGAGACCCGACGC chr2:118475883-Reference-T;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Reference T tgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg AGCGGAAGCGAA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAagcggaagcgaaAGATCGAGACCCGACGC chr2:118475883-Reference-T;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative G tgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GCGCGACTAACA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgcgcgactaacaAGATCGAGACCCGACGC chr2:118475883-Alternative-G;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Reference T tgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GACATGTCCGAC CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgacatgtccgacAGATCGAGACCCGACGC chr2:118475883-Reference-T;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative G tgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg AACCACACGCGA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAaaccacacgcgaAGATCGAGACCCGACGC chr2:118475883-Alternative-G;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative G tgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg AACTAGATCGAG CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAaactagatcgagAGATCGAGACCCGACGC chr2:118475883-Alternative-G;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Reference T tgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg CGGAGTCTGAAC CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAcggagtctgaacAGATCGAGACCCGACGC chr2:118475883-Reference-T;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative G tgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg CGAGTAATTCCA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaGcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAcgagtaattccaAGATCGAGACCCGACGC chr2:118475883-Alternative-G;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative A tgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagagg AAGGCGTGGTCT CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAaaggcgtggtctAGATCGAGACCCGACGC chr2:118475883-Alternative-A;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Reference T tgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GTCGATAGCGTC CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaTcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgtcgatagcgtcAGATCGAGACCCGACGC chr2:118475883-Reference-T;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Variant C tgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg AAGTCAGACGCA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAaagtcagacgcaAGATCGAGACCCGACGC chr2:118475883-Variant-C;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative A tgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagagg ATAAGTAGCGCA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAataagtagcgcaAGATCGAGACCCGACGC chr2:118475883-Alternative-A;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative A tgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagagg CATAGTGTTACG CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAcatagtgttacgAGATCGAGACCCGACGC chr2:118475883-Alternative-A;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Variant C tgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GATGTGGATCTT CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgatgtggatcttAGATCGAGACCCGACGC chr2:118475883-Variant-C;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Variant C tgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg AACAGCTGATGA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAaacagctgatgaAGATCGAGACCCGACGC chr2:118475883-Variant-C;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative A tgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagagg AGCTGCGTAATA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAagctgcgtaataAGATCGAGACCCGACGC chr2:118475883-Alternative-A;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Variant C tgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg CTCTCTCTGTGC CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAActctctctgtgcAGATCGAGACCCGACGC chr2:118475883-Variant-C;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Alternative A tgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagagg GTGACGAGATTA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaActtttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgtgacgagattaAGATCGAGACCCGACGC chr2:118475883-Alternative-A;Patient-25 chr2:118475883-TC Inherited Patient-25 intergenic 6.4e-05 0.000512821 0.28 6.99 -1.27 DDX18 96371 Variant C tgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagagg GTAAGCAGCATA CGACGCGGTCTCTCTCTtgcataagcgataattattcctataattaaaagaggaagcatttaatctaCcttttcattacatttgattgtagccagtggaatcagcatgcatcagaggAGAGGGAGACGGACGTCTCAATAAgtaagcagcataAGATCGAGACCCGACGC chr2:118475883-Variant-C;Patient-25 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative C gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GACGCGGAATCA CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgacgcggaatcaAGATCGAGACCCGACGC chr2:119622556-Alternative-C;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Variant A gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GTCGTTAAGGTT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgtcgttaaggttAGATCGAGACCCGACGC chr2:119622556-Variant-A;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative C gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc CGGACTGTCAAG CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAcggactgtcaagAGATCGAGACCCGACGC chr2:119622556-Alternative-C;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Variant A gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GGTAGGCTTGCT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAggtaggcttgctAGATCGAGACCCGACGC chr2:119622556-Variant-A;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative C gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GATCACCAACGA CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgatcaccaacgaAGATCGAGACCCGACGC chr2:119622556-Alternative-C;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Variant A gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GCGATTGAACGG CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgcgattgaacggAGATCGAGACCCGACGC chr2:119622556-Variant-A;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative C gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GATGTTCACAAC CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgatgttcacaacAGATCGAGACCCGACGC chr2:119622556-Alternative-C;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Variant A gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagc AAGGCTTGACGG CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAaaggcttgacggAGATCGAGACCCGACGC chr2:119622556-Variant-A;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative G gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc CGGACTGTCTAC CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAcggactgtctacAGATCGAGACCCGACGC chr2:119622556-Alternative-G;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Variant A gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GATACCATTGGT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaActcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgataccattggtAGATCGAGACCCGACGC chr2:119622556-Variant-A;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Reference T gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc ATACGCCTACGG CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAatacgcctacggAGATCGAGACCCGACGC chr2:119622556-Reference-T;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative G gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GCATGCTCGTGA CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgcatgctcgtgaAGATCGAGACCCGACGC chr2:119622556-Alternative-G;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative G gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc AGAGCTGACAAG CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAagagctgacaagAGATCGAGACCCGACGC chr2:119622556-Alternative-G;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative G gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc CGTTCAGGTCGA CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAcgttcaggtcgaAGATCGAGACCCGACGC chr2:119622556-Alternative-G;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative C gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc CGAATGCAACAC CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaCctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAcgaatgcaacacAGATCGAGACCCGACGC chr2:119622556-Alternative-C;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Alternative G gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc AAGTGCCGATGC CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaGctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAaagtgccgatgcAGATCGAGACCCGACGC chr2:119622556-Alternative-G;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Reference T gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GATATCGCAACT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgatatcgcaactAGATCGAGACCCGACGC chr2:119622556-Reference-T;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Reference T gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GAGAGTTGCAAT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgagagttgcaatAGATCGAGACCCGACGC chr2:119622556-Reference-T;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Reference T gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc GCGTATAGCGGT CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAgcgtatagcggtAGATCGAGACCCGACGC chr2:119622556-Reference-T;Patient-19 chr2:119622556-TA DeNovo Patient-19 intergenic 0.000605 0.00256 -0.23 0.58 -4.81 EN1 16796 Reference T gcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagc AGCGTCGTCTTC CGACGCGGTCTCTCTCTgcacaccagatttcaaaggcttagcaagaagaaaaaaagattacaaagtaTctcattcccatttggaaaggagctctttgctctagagaggtcctgcagcAGAGGGAGACGGACGTCTCAATAAagcgtcgtcttcAGATCGAGACCCGACGC chr2:119622556-Reference-T;Patient-19 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative C agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AAGGTTCGTACC CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAaaggttcgtaccAGATCGAGACCCGACGC chr2:121082179-Alternative-C;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative C agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GTTCCGTCGACT CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgttccgtcgactAGATCGAGACCCGACGC chr2:121082179-Alternative-C;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative C agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata ATTGACTCCGGC CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAattgactccggcAGATCGAGACCCGACGC chr2:121082179-Alternative-C;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative C agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GTCCGAAGTAAT CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgtccgaagtaatAGATCGAGACCCGACGC chr2:121082179-Alternative-C;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative C agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGCAATCCTGCG CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagCaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAagcaatcctgcgAGATCGAGACCCGACGC chr2:121082179-Alternative-C;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Reference G agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata CGACAACATGAA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAcgacaacatgaaAGATCGAGACCCGACGC chr2:121082179-Reference-G;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Reference G agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata CTAGGCATCTGG CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAActaggcatctggAGATCGAGACCCGACGC chr2:121082179-Reference-G;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Reference G agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata CGGTATATACGA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAcggtatatacgaAGATCGAGACCCGACGC chr2:121082179-Reference-G;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative A agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GTGTTGTCTCAT CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgtgttgtctcatAGATCGAGACCCGACGC chr2:121082179-Alternative-A;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative A agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGTATTACCACG CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAagtattaccacgAGATCGAGACCCGACGC chr2:121082179-Alternative-A;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative A agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGCGCATAACGC CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAagcgcataacgcAGATCGAGACCCGACGC chr2:121082179-Alternative-A;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Reference G agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GATCGCTAGACG CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgatcgctagacgAGATCGAGACCCGACGC chr2:121082179-Reference-G;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative A agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGCAAGGCTTAA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAagcaaggcttaaAGATCGAGACCCGACGC chr2:121082179-Alternative-A;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Variant T agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GCGTTGGCATGT CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgcgttggcatgtAGATCGAGACCCGACGC chr2:121082179-Variant-T;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Variant T agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GAGCTAACGGAG CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgagctaacggagAGATCGAGACCCGACGC chr2:121082179-Variant-T;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Reference G agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGACGCCGAATA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagGaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAagacgccgaataAGATCGAGACCCGACGC chr2:121082179-Reference-G;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Variant T agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata AGGTATGACATC CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAaggtatgacatcAGATCGAGACCCGACGC chr2:121082179-Variant-T;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Variant T agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata CTAAGCGCGTGA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAActaagcgcgtgaAGATCGAGACCCGACGC chr2:121082179-Variant-T;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Variant T agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata ACACGGACAAGT CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagTaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAacacggacaagtAGATCGAGACCCGACGC chr2:121082179-Variant-T;Patient-62 chr2:121082179-GT DeNovo Patient-62 intergenic NA 0.000513 0.01 2.8 0.09 RALB 71764 Alternative A agttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaata GAGTTGCTCATA CGACGCGGTCTCTCTCTagttacctttaagtcgcccatggggccaggtcagggtgacgttgccttagAaagggcgaccctggagctgcgtccagaccaaggtcgtgatgggggaataAGAGGGAGACGGACGTCTCAATAAgagttgctcataAGATCGAGACCCGACGC chr2:121082179-Alternative-A;Patient-62 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative G aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CTTACCAATGCT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAActtaccaatgctAGATCGAGACCCGACGC chr2:121137201-Alternative-G;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative C aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CTAGCCGCTTCT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAActagccgcttctAGATCGAGACCCGACGC chr2:121137201-Alternative-C;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative G aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CTTGACAGAGCT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAActtgacagagctAGATCGAGACCCGACGC chr2:121137201-Alternative-G;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Variant T aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CATTATAAGGCG CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAcattataaggcgAGATCGAGACCCGACGC chr2:121137201-Variant-T;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative G aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GATGACCTAGTT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAgatgacctagttAGATCGAGACCCGACGC chr2:121137201-Alternative-G;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Reference A aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GGCACCGTAATA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAggcaccgtaataAGATCGAGACCCGACGC chr2:121137201-Reference-A;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative G aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc AGAGTTGTTGCT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAagagttgttgctAGATCGAGACCCGACGC chr2:121137201-Alternative-G;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Variant T aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GACGCATGACGA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAgacgcatgacgaAGATCGAGACCCGACGC chr2:121137201-Variant-T;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative G aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc AAGCAACACAGG CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggGcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAaagcaacacaggAGATCGAGACCCGACGC chr2:121137201-Alternative-G;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Variant T aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc ACCGACTTCCTA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAaccgacttcctaAGATCGAGACCCGACGC chr2:121137201-Variant-T;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Reference A aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CGTTGAGCGATA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAcgttgagcgataAGATCGAGACCCGACGC chr2:121137201-Reference-A;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Variant T aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CGGCTTGCATCA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAcggcttgcatcaAGATCGAGACCCGACGC chr2:121137201-Variant-T;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Reference A aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GCGCTAGGCATT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAgcgctaggcattAGATCGAGACCCGACGC chr2:121137201-Reference-A;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Reference A aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GCAAGCGATCGT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAgcaagcgatcgtAGATCGAGACCCGACGC chr2:121137201-Reference-A;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative C aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc GTGCGATATGAA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAgtgcgatatgaaAGATCGAGACCCGACGC chr2:121137201-Alternative-C;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Variant T aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc ATAGCTGGCGAT CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggTcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAatagctggcgatAGATCGAGACCCGACGC chr2:121137201-Variant-T;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative C aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CTAGGTGTCTGG CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAActaggtgtctggAGATCGAGACCCGACGC chr2:121137201-Alternative-C;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative C aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc ATATGCTCTTCG CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAatatgctcttcgAGATCGAGACCCGACGC chr2:121137201-Alternative-C;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Alternative C aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc CGAGTACTACCA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggCcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAcgagtactaccaAGATCGAGACCCGACGC chr2:121137201-Alternative-C;Patient-64 chr2:121137201-AT DeNovo Patient-64 intergenic NA 0.000513 -0.18 0.84 -1.01 INHBB 33481 Reference A aacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggc ACAACGCTCTAA CGACGCGGTCTCTCTCTaacaattcagagcgaagactgggcaccaggctcccgagtgggtagagaggAcagggaggcctgggaggggtaggggcctccccacttcttaccatagggcAGAGGGAGACGGACGTCTCAATAAacaacgctctaaAGATCGAGACCCGACGC chr2:121137201-Reference-A;Patient-64 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Variant A gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa AACAACTCCAAC CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAaacaactccaacAGATCGAGACCCGACGC chr2:121647885-Variant-A;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Variant A gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ATAGACGTCGAG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAatagacgtcgagAGATCGAGACCCGACGC chr2:121647885-Variant-A;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative C gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa CGTAATAGTTCG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAcgtaatagttcgAGATCGAGACCCGACGC chr2:121647885-Alternative-C;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative C gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GCATTCCATTCA CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAgcattccattcaAGATCGAGACCCGACGC chr2:121647885-Alternative-C;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative C gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa AACGCCGTTATT CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAaacgccgttattAGATCGAGACCCGACGC chr2:121647885-Alternative-C;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Variant A gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ACGAGCAATCAA CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAacgagcaatcaaAGATCGAGACCCGACGC chr2:121647885-Variant-A;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative C gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa AGTTACGCAACC CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAagttacgcaaccAGATCGAGACCCGACGC chr2:121647885-Alternative-C;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Variant A gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa AATGATGCGTGA CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAaatgatgcgtgaAGATCGAGACCCGACGC chr2:121647885-Variant-A;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative C gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ACATCGGTGTCG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaCtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAacatcggtgtcgAGATCGAGACCCGACGC chr2:121647885-Alternative-C;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative T gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ATCGGAATGGCG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAatcggaatggcgAGATCGAGACCCGACGC chr2:121647885-Alternative-T;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative T gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa AATAAGACCGAC CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAaataagaccgacAGATCGAGACCCGACGC chr2:121647885-Alternative-T;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Variant A gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ACGCCATCATGC CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaAtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAacgccatcatgcAGATCGAGACCCGACGC chr2:121647885-Variant-A;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative T gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GCAGGTATGCAG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAgcaggtatgcagAGATCGAGACCCGACGC chr2:121647885-Alternative-T;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative T gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ATCCGGAGGTAC CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAatccggaggtacAGATCGAGACCCGACGC chr2:121647885-Alternative-T;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Reference G gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GGCTGATACTTA CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAggctgatacttaAGATCGAGACCCGACGC chr2:121647885-Reference-G;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Alternative T gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ATTGTAAGGCGT CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaTtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAattgtaaggcgtAGATCGAGACCCGACGC chr2:121647885-Alternative-T;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Reference G gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GGCGCTAATTCG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAggcgctaattcgAGATCGAGACCCGACGC chr2:121647885-Reference-G;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Reference G gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa ACCACGGTTACA CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAaccacggttacaAGATCGAGACCCGACGC chr2:121647885-Reference-G;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Reference G gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GATACACCGTCG CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAgatacaccgtcgAGATCGAGACCCGACGC chr2:121647885-Reference-G;Patient-53 chr2:121647885-GA DeNovo Patient-53 intronic GLI2 NA 4.95e-05 0.11 4.48 1.53 GLI2 93017 Reference G gaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaa GCATGAAGTGAT CGACGCGGTCTCTCTCTgaaattttagaaatggagaacagatcaatggtttccagggtttaatgacaGtaggggtgagggagaggagggcagcagaagggtgctcatcgtgacagaaAGAGGGAGACGGACGTCTCAATAAgcatgaagtgatAGATCGAGACCCGACGC chr2:121647885-Reference-G;Patient-53 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative C ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat GAGGTTCATGTT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAgaggttcatgttAGATCGAGACCCGACGC chr2:122344804-Alternative-C;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative C ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CATAATCGGTTC CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcataatcggttcAGATCGAGACCCGACGC chr2:122344804-Alternative-C;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Reference G ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CATCAGATATGG CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcatcagatatggAGATCGAGACCCGACGC chr2:122344804-Reference-G;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative T ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat AATAACGGAGCT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAaataacggagctAGATCGAGACCCGACGC chr2:122344804-Alternative-T;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Reference G ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat GTTCCGTACCGA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAgttccgtaccgaAGATCGAGACCCGACGC chr2:122344804-Reference-G;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Variant A ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CGCAACGGTATA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcgcaacggtataAGATCGAGACCCGACGC chr2:122344804-Variant-A;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Variant A ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CGTTGACAGACA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcgttgacagacaAGATCGAGACCCGACGC chr2:122344804-Variant-A;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative T ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat ACGAGAAGCATC CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAacgagaagcatcAGATCGAGACCCGACGC chr2:122344804-Alternative-T;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative C ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat GTTACGCGGTAC CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAgttacgcggtacAGATCGAGACCCGACGC chr2:122344804-Alternative-C;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative T ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat GTCGCTGGAACA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAgtcgctggaacaAGATCGAGACCCGACGC chr2:122344804-Alternative-T;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Reference G ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat ACTACCGCATCG CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAactaccgcatcgAGATCGAGACCCGACGC chr2:122344804-Reference-G;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative C ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CTATATCTCCGT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAActatatctccgtAGATCGAGACCCGACGC chr2:122344804-Alternative-C;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Reference G ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CGCGTAGAAGCT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcgcgtagaagctAGATCGAGACCCGACGC chr2:122344804-Reference-G;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Reference G ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat GTGTAGTGCGCA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcGagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAgtgtagtgcgcaAGATCGAGACCCGACGC chr2:122344804-Reference-G;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative T ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat ACCAACTTCAGA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAaccaacttcagaAGATCGAGACCCGACGC chr2:122344804-Alternative-T;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative T ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat ACGCATTGACCA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcTagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAacgcattgaccaAGATCGAGACCCGACGC chr2:122344804-Alternative-T;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Variant A ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CTCAATTGGCGA CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAActcaattggcgaAGATCGAGACCCGACGC chr2:122344804-Variant-A;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Variant A ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat AGCTGACTTAGT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAagctgacttagtAGATCGAGACCCGACGC chr2:122344804-Variant-A;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Variant A ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CGTTCTTATACG CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcAagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcgttcttatacgAGATCGAGACCCGACGC chr2:122344804-Variant-A;Patient-43 chr2:122344804-GA DeNovo Patient-43 intronic CLASP1 NA 4.95e-05 -0.35 0.25 -0.85 CLASP1 62247 Alternative C ttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagat CGTGATAATCGT CGACGCGGTCTCTCTCTttgcagtgagctgagatcacaccactgcactccagcctgggcaacgcggcCagactctgtttcaaaaaaagaaaaaaaaggaagaagacagagaatagatAGAGGGAGACGGACGTCTCAATAAcgtgataatcgtAGATCGAGACCCGACGC chr2:122344804-Alternative-C;Patient-43 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Reference A actggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CACAACAATGAG CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcacaacaatgagAGATCGAGACCCGACGC chr2:122369134-Reference-A;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative T actggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggag GCATCCAAGGAC CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAgcatccaaggacAGATCGAGACCCGACGC chr2:122369134-Alternative-T;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Reference A actggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CAGACTACGAGA CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcagactacgagaAGATCGAGACCCGACGC chr2:122369134-Reference-A;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative T actggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CATCTTCGATGT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcatcttcgatgtAGATCGAGACCCGACGC chr2:122369134-Alternative-T;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Reference A actggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGCAGCATCCAT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcgcagcatccatAGATCGAGACCCGACGC chr2:122369134-Reference-A;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative T actggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGTCGGTCATGA CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcgtcggtcatgaAGATCGAGACCCGACGC chr2:122369134-Alternative-T;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Reference A actggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggag GTGATCACGTCG CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAgtgatcacgtcgAGATCGAGACCCGACGC chr2:122369134-Reference-A;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Variant G actggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGGACTCTCGAT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcggactctcgatAGATCGAGACCCGACGC chr2:122369134-Variant-G;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative C actggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CATCAGATGCTA CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcatcagatgctaAGATCGAGACCCGACGC chr2:122369134-Alternative-C;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Variant G actggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CAGATAATACGG CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcagataatacggAGATCGAGACCCGACGC chr2:122369134-Variant-G;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Reference A actggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggag ATTCCTGCGCCT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggAggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAattcctgcgcctAGATCGAGACCCGACGC chr2:122369134-Reference-A;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Variant G actggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGGAAGACGCAT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcggaagacgcatAGATCGAGACCCGACGC chr2:122369134-Variant-G;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative T actggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggag AAGGTAGCAATC CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAaaggtagcaatcAGATCGAGACCCGACGC chr2:122369134-Alternative-T;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative T actggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGCTAACAAGCG CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggTggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcgctaacaagcgAGATCGAGACCCGACGC chr2:122369134-Alternative-T;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Variant G actggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggag GGCTTGTCGTTC CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAggcttgtcgttcAGATCGAGACCCGACGC chr2:122369134-Variant-G;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative C actggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggag AGGCGGATTATT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAaggcggattattAGATCGAGACCCGACGC chr2:122369134-Alternative-C;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Variant G actggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggag GAGGTGTTCAGG CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggGggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAgaggtgttcaggAGATCGAGACCCGACGC chr2:122369134-Variant-G;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative C actggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGGCTGCTTGTT CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcggctgcttgttAGATCGAGACCCGACGC chr2:122369134-Alternative-C;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative C actggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggag GCGTGATAGATA CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAgcgtgatagataAGATCGAGACCCGACGC chr2:122369134-Alternative-C;Patient-78 chr2:122369134-AG DeNovo Patient-78 intronic CLASP1 NA 0.000159744 0.3 7.16 0.96 CLASP1 37917 Alternative C actggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggag CGCATCGTGAGA CGACGCGGTCTCTCTCTactggaggaggaggagttggaggagttacaggagaaagaggaactggaggCggaagaggagttacaggaggaagaggaactggaggaggaggagttggagAGAGGGAGACGGACGTCTCAATAAcgcatcgtgagaAGATCGAGACCCGACGC chr2:122369134-Alternative-C;Patient-78 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct AGACGGCACAAC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAagacggcacaacAGATCGAGACCCGACGC chr2:127979535-Alternative-A;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Variant C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GTATCGGACGTC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtatcggacgtcAGATCGAGACCCGACGC chr2:127979535-Variant-C;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Variant C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GCGGTTGTTGCT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgcggttgttgctAGATCGAGACCCGACGC chr2:127979535-Variant-C;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GGTGGCTTAGTC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAggtggcttagtcAGATCGAGACCCGACGC chr2:127979535-Alternative-A;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CGTATCGGTGCA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgtatcggtgcaAGATCGAGACCCGACGC chr2:127979535-Alternative-A;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CAGCTAACCAAC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcagctaaccaacAGATCGAGACCCGACGC chr2:127979535-Alternative-A;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CGCATAGACTTC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgcatagacttcAGATCGAGACCCGACGC chr2:127979535-Alternative-A;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Variant C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CATAGTTGCACA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcatagttgcacaAGATCGAGACCCGACGC chr2:127979535-Variant-C;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GTACTATGGTCA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtactatggtcaAGATCGAGACCCGACGC chr2:127979535-Alternative-T;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GTGTTCGACCTA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtgttcgacctaAGATCGAGACCCGACGC chr2:127979535-Alternative-T;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GTCAGACGAGCT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgtcagacgagctAGATCGAGACCCGACGC chr2:127979535-Alternative-T;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CTGTGTCTAACT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAActgtgtctaactAGATCGAGACCCGACGC chr2:127979535-Alternative-T;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CGATCGCTCGTT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgatcgctcgttAGATCGAGACCCGACGC chr2:127979535-Alternative-T;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CGTAGCCGTACT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgtagccgtactAGATCGAGACCCGACGC chr2:127979535-Reference-G;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct ATTGGAATCAGG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAattggaatcaggAGATCGAGACCCGACGC chr2:127979535-Reference-G;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CGATCTCGACAG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcgatctcgacagAGATCGAGACCCGACGC chr2:127979535-Reference-G;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct AGCGCACATCGA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAagcgcacatcgaAGATCGAGACCCGACGC chr2:127979535-Reference-G;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Variant C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GCCTTATTATGC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgccttattatgcAGATCGAGACCCGACGC chr2:127979535-Variant-C;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Variant C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct CAACTAACTGGT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAcaactaactggtAGATCGAGACCCGACGC chr2:127979535-Variant-C;Patient-30 chr2:127979535-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA ERCC3 72216 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcct GAGCACTCGGTT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaggtggagcttgcagtgagccgagatcttgccactgcactgcagcctAGAGGGAGACGGACGTCTCAATAAgagcactcggttAGATCGAGACCCGACGC chr2:127979535-Reference-G;Patient-30 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative G aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GGCGAGATATCG CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAggcgagatatcgAGATCGAGACCCGACGC chr2:129056469-Alternative-G;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Variant T aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag CACATTATACGC CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAcacattatacgcAGATCGAGACCCGACGC chr2:129056469-Variant-T;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Variant T aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GGAACCTGATAC CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAggaacctgatacAGATCGAGACCCGACGC chr2:129056469-Variant-T;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative G aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag AGTTGATCGTCA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAagttgatcgtcaAGATCGAGACCCGACGC chr2:129056469-Alternative-G;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Variant T aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag ATTGACAGGAGA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAattgacaggagaAGATCGAGACCCGACGC chr2:129056469-Variant-T;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative G aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag AAGGCTTCGATT CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAaaggcttcgattAGATCGAGACCCGACGC chr2:129056469-Alternative-G;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative G aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GACATTAGCGAC CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgacattagcgacAGATCGAGACCCGACGC chr2:129056469-Alternative-G;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Variant T aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag ACAGGTCGGAGA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAacaggtcggagaAGATCGAGACCCGACGC chr2:129056469-Variant-T;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative G aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GGTTGCGTAACC CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctGaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAggttgcgtaaccAGATCGAGACCCGACGC chr2:129056469-Alternative-G;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Variant T aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GTGTCCGTGTGA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctTaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgtgtccgtgtgaAGATCGAGACCCGACGC chr2:129056469-Variant-T;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative A aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GACTACTATACG CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgactactatacgAGATCGAGACCCGACGC chr2:129056469-Alternative-A;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Reference C aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag ACCGCTCTATGG CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAaccgctctatggAGATCGAGACCCGACGC chr2:129056469-Reference-C;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Reference C aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GTTCCGCTTACG CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgttccgcttacgAGATCGAGACCCGACGC chr2:129056469-Reference-C;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative A aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GGCAGTATCTTA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAggcagtatcttaAGATCGAGACCCGACGC chr2:129056469-Alternative-A;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative A aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GACGCATCTATA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgacgcatctataAGATCGAGACCCGACGC chr2:129056469-Alternative-A;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Reference C aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GCATTGGCCGAT CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgcattggccgatAGATCGAGACCCGACGC chr2:129056469-Reference-C;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative A aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag ACGTATGCATCA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAacgtatgcatcaAGATCGAGACCCGACGC chr2:129056469-Alternative-A;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Reference C aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag CGAATAAGGAGA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAcgaataaggagaAGATCGAGACCCGACGC chr2:129056469-Reference-C;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Alternative A aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag GTCGACTACGGT CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctAaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAgtcgactacggtAGATCGAGACCCGACGC chr2:129056469-Alternative-A;Patient-7 chr2:129056469-CT DeNovo Patient-7 intronic HS6ST1 NA 4.95e-05 -0.16 0.95 -1.83 HS6ST1 19701 Reference C aaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccag AGAGTGTAACCA CGACGCGGTCTCTCTCTaaggctttcccacaacgagtgtcctcaagagccaagtcccaacagcttctCaggagggaaagcagcacgtccctgggcgcggccaccctgggcccaccagAGAGGGAGACGGACGTCTCAATAAagagtgtaaccaAGATCGAGACCCGACGC chr2:129056469-Reference-C;Patient-7 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Reference G acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GGCTTACAGTCG CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAggcttacagtcgAGATCGAGACCCGACGC chr2:130677956-Reference-G;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Reference G acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatac ATCACGTGCGCT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAatcacgtgcgctAGATCGAGACCCGACGC chr2:130677956-Reference-G;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Reference G acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GACATGAGAACT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAgacatgagaactAGATCGAGACCCGACGC chr2:130677956-Reference-G;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Reference G acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatac ATCGTGCTCGTC CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAatcgtgctcgtcAGATCGAGACCCGACGC chr2:130677956-Reference-G;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative T acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GGATCGATGTGA CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAggatcgatgtgaAGATCGAGACCCGACGC chr2:130677956-Alternative-T;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative T acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GCCGTAACAACT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAgccgtaacaactAGATCGAGACCCGACGC chr2:130677956-Alternative-T;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Reference G acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GGCCAACCGTAA CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaGgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAggccaaccgtaaAGATCGAGACCCGACGC chr2:130677956-Reference-G;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative T acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatac ACGTAAGCGTCT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAacgtaagcgtctAGATCGAGACCCGACGC chr2:130677956-Alternative-T;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative T acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GACGTACAGTTA CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAgacgtacagttaAGATCGAGACCCGACGC chr2:130677956-Alternative-T;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative T acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GAGCTCGTCTAC CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaTgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAgagctcgtctacAGATCGAGACCCGACGC chr2:130677956-Alternative-T;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Variant A acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatac CTACGTTATGCT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAActacgttatgctAGATCGAGACCCGACGC chr2:130677956-Variant-A;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Variant A acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatac ATAACGGTCGTT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAataacggtcgttAGATCGAGACCCGACGC chr2:130677956-Variant-A;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Variant A acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatac CGGTAGTCATGG CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAcggtagtcatggAGATCGAGACCCGACGC chr2:130677956-Variant-A;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Variant A acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GTCATGAGGTGG CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAgtcatgaggtggAGATCGAGACCCGACGC chr2:130677956-Variant-A;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Variant A acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatac AGTTAACAGCGA CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaAgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAagttaacagcgaAGATCGAGACCCGACGC chr2:130677956-Variant-A;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative C acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatac CTAATGCTCCGC CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAActaatgctccgcAGATCGAGACCCGACGC chr2:130677956-Alternative-C;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative C acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatac GGACAGACGAAT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAggacagacgaatAGATCGAGACCCGACGC chr2:130677956-Alternative-C;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative C acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatac CGTCCACAACCT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAcgtccacaacctAGATCGAGACCCGACGC chr2:130677956-Alternative-C;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative C acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatac CAACCTTCCAAG CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAcaaccttccaagAGATCGAGACCCGACGC chr2:130677956-Alternative-C;Patient-55 chr2:130677956-GA Inherited Patient-55 intergenic 0.000478 0.00205 -0.22 0.62 0 RAB6C 59278 Alternative C acacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatac ACTTCGAATCCT CGACGCGGTCTCTCTCTacacagactaaaaaatgtttaacaaaatgtcaatagtaagtccttccctaCgataattattttaaatataagtgcagtaaatataagtgcatacaaatacAGAGGGAGACGGACGTCTCAATAAacttcgaatcctAGATCGAGACCCGACGC chr2:130677956-Alternative-C;Patient-55 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative C aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta ACACCAACAACC CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAacaccaacaaccAGATCGAGACCCGACGC chr2:1329117-Alternative-C;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative C aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta ACCGTAGTGTGG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAaccgtagtgtggAGATCGAGACCCGACGC chr2:1329117-Alternative-C;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative C aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta GGCTAGCCATTA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAggctagccattaAGATCGAGACCCGACGC chr2:1329117-Alternative-C;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative C aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta ACGTCGCTACGA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAacgtcgctacgaAGATCGAGACCCGACGC chr2:1329117-Alternative-C;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative A aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CTAACAGCACAC CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAActaacagcacacAGATCGAGACCCGACGC chr2:1329117-Alternative-A;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative C aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CGGATAGGAATA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgCaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAcggataggaataAGATCGAGACCCGACGC chr2:1329117-Alternative-C;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Variant G aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CACATAGCCTGG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAcacatagcctggAGATCGAGACCCGACGC chr2:1329117-Variant-G;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Variant G aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CATCACCACCAC CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAcatcaccaccacAGATCGAGACCCGACGC chr2:1329117-Variant-G;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative A aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta GCGAATTACGTT CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAgcgaattacgttAGATCGAGACCCGACGC chr2:1329117-Alternative-A;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Variant G aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CTCTGGTTGCGT CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAActctggttgcgtAGATCGAGACCCGACGC chr2:1329117-Variant-G;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative A aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta ATCGGTAGCGTC CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAatcggtagcgtcAGATCGAGACCCGACGC chr2:1329117-Alternative-A;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative A aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CTGTCGTAATGA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAActgtcgtaatgaAGATCGAGACCCGACGC chr2:1329117-Alternative-A;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Alternative A aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CAAGATTCGACG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgAaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAcaagattcgacgAGATCGAGACCCGACGC chr2:1329117-Alternative-A;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Reference T aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta AATGGACGCAGA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAaatggacgcagaAGATCGAGACCCGACGC chr2:1329117-Reference-T;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Variant G aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta GTGCTCATTACG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAgtgctcattacgAGATCGAGACCCGACGC chr2:1329117-Variant-G;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Reference T aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta GCCGTACAAGGT CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAgccgtacaaggtAGATCGAGACCCGACGC chr2:1329117-Reference-T;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Reference T aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta CGCGGATTAACG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAcgcggattaacgAGATCGAGACCCGACGC chr2:1329117-Reference-T;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Reference T aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta AGGTTGTGTCTA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAaggttgtgtctaAGATCGAGACCCGACGC chr2:1329117-Reference-T;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Reference T aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta GTTATTCTGTCG CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgTaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAgttattctgtcgAGATCGAGACCCGACGC chr2:1329117-Reference-T;Patient-35 chr2:1329117-TG DeNovo Patient-35 intronic SNTG2 NA 4.95e-05 0.57 10 0 TPO 88115 Variant G aggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgta ATACGGAATGCA CGACGCGGTCTCTCTCTaggtaaatgtttaagttttgctcacaaaagtatagtttacccaattgctgGaagctgtaaatagtttaaaagaaaaaaagaaagacttttttactctgtaAGAGGGAGACGGACGTCTCAATAAatacggaatgcaAGATCGAGACCCGACGC chr2:1329117-Variant-G;Patient-35 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative A ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag ATCCTCGTGTCG CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAatcctcgtgtcgAGATCGAGACCCGACGC chr2:136790614-Alternative-A;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative A ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GGTTATTGAAGG CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAggttattgaaggAGATCGAGACCCGACGC chr2:136790614-Alternative-A;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative G ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag ATCATCGGTTCA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAatcatcggttcaAGATCGAGACCCGACGC chr2:136790614-Alternative-G;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative A ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GTAGCTCGTACG CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAgtagctcgtacgAGATCGAGACCCGACGC chr2:136790614-Alternative-A;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative A ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CGTATGGTGGAG CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAcgtatggtggagAGATCGAGACCCGACGC chr2:136790614-Alternative-A;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative A ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GGCGCTGATAGA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcAattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAggcgctgatagaAGATCGAGACCCGACGC chr2:136790614-Alternative-A;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Reference T ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag ATTGTAACGGAC CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAattgtaacggacAGATCGAGACCCGACGC chr2:136790614-Reference-T;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative G ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CTGAGACTGGCA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAActgagactggcaAGATCGAGACCCGACGC chr2:136790614-Alternative-G;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative G ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag AGGTACGAAGAA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAaggtacgaagaaAGATCGAGACCCGACGC chr2:136790614-Alternative-G;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Reference T ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CGCGAAGTACGT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAcgcgaagtacgtAGATCGAGACCCGACGC chr2:136790614-Reference-T;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Variant C ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CGACTGGCACTA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAcgactggcactaAGATCGAGACCCGACGC chr2:136790614-Variant-C;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Reference T ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag ACTCGGACATAT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAactcggacatatAGATCGAGACCCGACGC chr2:136790614-Reference-T;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative G ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CGGCAAGTTATT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAcggcaagttattAGATCGAGACCCGACGC chr2:136790614-Alternative-G;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Reference T ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GAATGAAGCGAT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAgaatgaagcgatAGATCGAGACCCGACGC chr2:136790614-Reference-T;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Variant C ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag AATGTGCGAGAT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAaatgtgcgagatAGATCGAGACCCGACGC chr2:136790614-Variant-C;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Variant C ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GCAGCATGACGA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAgcagcatgacgaAGATCGAGACCCGACGC chr2:136790614-Variant-C;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Alternative G ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag CTAGTAGCTAGA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcGattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAActagtagctagaAGATCGAGACCCGACGC chr2:136790614-Alternative-G;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Reference T ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GCAGTCAATCGA CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcTattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAgcagtcaatcgaAGATCGAGACCCGACGC chr2:136790614-Reference-T;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Variant C ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag GAGGTGTCGCTT CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAgaggtgtcgcttAGATCGAGACCCGACGC chr2:136790614-Variant-C;Patient-89 chr2:136790614-TC DeNovo Patient-89 intergenic NA 0.000513 0.34 7.69 1.07 DARS 47391 Variant C ttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgag AACGAGTGGAAC CGACGCGGTCTCTCTCTttttttcttttttataagtctgtggtaagttggtgattgtagtttcactcCattctcatgagtgtaacttaacactattgggtttaccctggcatgtgagAGAGGGAGACGGACGTCTCAATAAaacgagtggaacAGATCGAGACCCGACGC chr2:136790614-Variant-C;Patient-89 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative T gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc GCACGATACTTA CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAgcacgatacttaAGATCGAGACCCGACGC chr2:1383373-Alternative-T;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative A gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CGCTGAGATAGA CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcgctgagatagaAGATCGAGACCCGACGC chr2:1383373-Alternative-A;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative T gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc AACTCTGGTCGC CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAaactctggtcgcAGATCGAGACCCGACGC chr2:1383373-Alternative-T;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative A gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CAAGGAACGCAA CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcaaggaacgcaaAGATCGAGACCCGACGC chr2:1383373-Alternative-A;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative A gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc AGTATATCGGAG CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAagtatatcggagAGATCGAGACCCGACGC chr2:1383373-Alternative-A;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative T gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CAGACTAACGAT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcagactaacgatAGATCGAGACCCGACGC chr2:1383373-Alternative-T;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative T gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc ATCAAGGCGTGC CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAatcaaggcgtgcAGATCGAGACCCGACGC chr2:1383373-Alternative-T;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative A gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc ACTGAGATGCGC CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAactgagatgcgcAGATCGAGACCCGACGC chr2:1383373-Alternative-A;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Variant G gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc GGAACTCGGAGT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAggaactcggagtAGATCGAGACCCGACGC chr2:1383373-Variant-G;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative A gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc GGATATGCGTAT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggActtcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAggatatgcgtatAGATCGAGACCCGACGC chr2:1383373-Alternative-A;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Reference C gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CTAGCCTTGTAA CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAActagccttgtaaAGATCGAGACCCGACGC chr2:1383373-Reference-C;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Variant G gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc GTACTCTTCGAT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAgtactcttcgatAGATCGAGACCCGACGC chr2:1383373-Variant-G;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Alternative T gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc ATACGTGGTCTA CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggTcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAatacgtggtctaAGATCGAGACCCGACGC chr2:1383373-Alternative-T;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Reference C gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CGCATAATGTGC CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcgcataatgtgcAGATCGAGACCCGACGC chr2:1383373-Reference-C;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Reference C gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CATCTTGTTCCT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcatcttgttcctAGATCGAGACCCGACGC chr2:1383373-Reference-C;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Variant G gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc ACTGCGAGAGCT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAactgcgagagctAGATCGAGACCCGACGC chr2:1383373-Variant-G;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Reference C gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CGGCTGTGTTCT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcggctgtgttctAGATCGAGACCCGACGC chr2:1383373-Reference-C;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Variant G gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CATCACGTCGTC CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcatcacgtcgtcAGATCGAGACCCGACGC chr2:1383373-Variant-G;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Variant G gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc CAGCTGGTCAAG CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggGcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAcagctggtcaagAGATCGAGACCCGACGC chr2:1383373-Variant-G;Patient-49 chr2:1383373-CG Inherited Patient-49 intergenic 0.000127 0.000512821 -0.28 0.42 -0.8 TPO 33859 Reference C gctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttccc GAGTTGTTACGT CGACGCGGTCTCTCTCTgctcctgtgggtgatgtctccttacgcagatgtgcttcaataatctcgggCcttcttgtaaaccagggcgtcggtatagctcacagccttccatcttcccAGAGGGAGACGGACGTCTCAATAAgagttgttacgtAGATCGAGACCCGACGC chr2:1383373-Reference-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative T gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt ACTGCGTTGTGG CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAactgcgttgtggAGATCGAGACCCGACGC chr2:145226226-Alternative-T;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Variant A gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt GATATCTTGGCA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAgatatcttggcaAGATCGAGACCCGACGC chr2:145226226-Variant-A;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Reference G gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CTCGGACAATTA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAActcggacaattaAGATCGAGACCCGACGC chr2:145226226-Reference-G;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative T gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AGGTATGTCGGT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAaggtatgtcggtAGATCGAGACCCGACGC chr2:145226226-Alternative-T;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Variant A gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt GAATAAGGCGAA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAgaataaggcgaaAGATCGAGACCCGACGC chr2:145226226-Variant-A;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative T gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AACGTTAACGGC CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAaacgttaacggcAGATCGAGACCCGACGC chr2:145226226-Alternative-T;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative T gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt GGCGTGGAGTAT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAggcgtggagtatAGATCGAGACCCGACGC chr2:145226226-Alternative-T;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative T gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt ATCGAGCGTCCA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcTtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAatcgagcgtccaAGATCGAGACCCGACGC chr2:145226226-Alternative-T;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative C gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt GCAGGTCGAGAT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAgcaggtcgagatAGATCGAGACCCGACGC chr2:145226226-Alternative-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Reference G gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AAGTCGCATTGT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAaagtcgcattgtAGATCGAGACCCGACGC chr2:145226226-Reference-G;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Reference G gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt GTTCTAGTCGAA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAgttctagtcgaaAGATCGAGACCCGACGC chr2:145226226-Reference-G;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Variant A gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CATGTCACCATT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAcatgtcaccattAGATCGAGACCCGACGC chr2:145226226-Variant-A;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Reference G gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AACAACAGATCG CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAaacaacagatcgAGATCGAGACCCGACGC chr2:145226226-Reference-G;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Variant A gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt ATAGGTCTGAAC CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAataggtctgaacAGATCGAGACCCGACGC chr2:145226226-Variant-A;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative C gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CGTGTACCGGTT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAcgtgtaccggttAGATCGAGACCCGACGC chr2:145226226-Alternative-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative C gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CGGCATCGGATT CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAcggcatcggattAGATCGAGACCCGACGC chr2:145226226-Alternative-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative C gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CACAGCTGCCAA CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAcacagctgccaaAGATCGAGACCCGACGC chr2:145226226-Alternative-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Alternative C gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt CATGTCATCGGC CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcCtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAcatgtcatcggcAGATCGAGACCCGACGC chr2:145226226-Alternative-C;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Variant A gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AGATCCTCGACG CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcAtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAagatcctcgacgAGATCGAGACCCGACGC chr2:145226226-Variant-A;Patient-49 chr2:145226226-GA Inherited Patient-49 intronic ZEB2 NA 4.63e-05 0.21 5.92 1.58 ZEB2 51731 Reference G gttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaatt AACTAACCAGTC CGACGCGGTCTCTCTCTgttagcacatgtgtgtgtgcatgtgtgtgtacatgcacacacatgtttgcGtgtattacagtacaacagggggtgaggacagaagggcaaagaccaaattAGAGGGAGACGGACGTCTCAATAAaactaaccagtcAGATCGAGACCCGACGC chr2:145226226-Reference-G;Patient-49 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative G cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CTGCGCCTACAT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAActgcgcctacatAGATCGAGACCCGACGC chr2:145296910-Alternative-G;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Reference A cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CGTAAGTGTAAC CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAcgtaagtgtaacAGATCGAGACCCGACGC chr2:145296910-Reference-A;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Reference A cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GACCGATGTCGT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAgaccgatgtcgtAGATCGAGACCCGACGC chr2:145296910-Reference-A;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Reference A cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa ACAAGTTGACCT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAacaagttgacctAGATCGAGACCCGACGC chr2:145296910-Reference-A;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Reference A cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa AAGCAGGTTGCA CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAaagcaggttgcaAGATCGAGACCCGACGC chr2:145296910-Reference-A;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative G cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GCGAACATGACC CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAgcgaacatgaccAGATCGAGACCCGACGC chr2:145296910-Alternative-G;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Variant C cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa AATCACGGTGTT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAaatcacggtgttAGATCGAGACCCGACGC chr2:145296910-Variant-C;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Variant C cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GGCTGACTTCCT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAggctgacttcctAGATCGAGACCCGACGC chr2:145296910-Variant-C;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Reference A cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CGCATGTAGTAC CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgAacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAcgcatgtagtacAGATCGAGACCCGACGC chr2:145296910-Reference-A;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Variant C cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GATCCGGAATAA CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAgatccggaataaAGATCGAGACCCGACGC chr2:145296910-Variant-C;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative T cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa ACGTGCAGTAAC CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAacgtgcagtaacAGATCGAGACCCGACGC chr2:145296910-Alternative-T;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative T cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GATAGCCGACCT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAgatagccgacctAGATCGAGACCCGACGC chr2:145296910-Alternative-T;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative T cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CTGGTACACAAT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAActggtacacaatAGATCGAGACCCGACGC chr2:145296910-Alternative-T;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative G cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa ACGTTAGATGCT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAacgttagatgctAGATCGAGACCCGACGC chr2:145296910-Alternative-G;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative T cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa GATCCTTGGACG CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAgatccttggacgAGATCGAGACCCGACGC chr2:145296910-Alternative-T;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative T cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CAAGTAAGTAGG CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgTacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAcaagtaagtaggAGATCGAGACCCGACGC chr2:145296910-Alternative-T;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative G cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa AACAGACGCGAC CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAaacagacgcgacAGATCGAGACCCGACGC chr2:145296910-Alternative-G;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Alternative G cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CGGTGTACCTGT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgGacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAcggtgtacctgtAGATCGAGACCCGACGC chr2:145296910-Alternative-G;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Variant C cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa AGCTCAGGTTCT CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAAagctcaggttctAGATCGAGACCCGACGC chr2:145296910-Variant-C;Patient-57 chr2:145296910-AC DeNovo Patient-57 intergenic NA 0.000513 1.69 16.74 3.02 ZEB2 18951 Variant C cattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaa CTCGCCTTAACA CGACGCGGTCTCTCTCTcattgaaaggacagtttagaatgttgtatttatgcaagtgaggtgccatgCacatgtacttgtccgaggtggacatgatcagaacaagcttgttcacaaaAGAGGGAGACGGACGTCTCAATAActcgccttaacaAGATCGAGACCCGACGC chr2:145296910-Variant-C;Patient-57 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative A tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CGCACGAACCTT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAcgcacgaaccttAGATCGAGACCCGACGC chr2:150403951-Alternative-A;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative A tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CAAGGTATTCGT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAcaaggtattcgtAGATCGAGACCCGACGC chr2:150403951-Alternative-A;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative A tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttg ACGCACTACGAT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAacgcactacgatAGATCGAGACCCGACGC chr2:150403951-Alternative-A;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative A tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CTCGTTCGTGCA CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAActcgttcgtgcaAGATCGAGACCCGACGC chr2:150403951-Alternative-A;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Reference C tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttg AATGTAACGCGT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAaatgtaacgcgtAGATCGAGACCCGACGC chr2:150403951-Reference-C;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Reference C tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CTGTCTATCACA CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAActgtctatcacaAGATCGAGACCCGACGC chr2:150403951-Reference-C;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Reference C tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttg ACCTCCGTACCA CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAacctccgtaccaAGATCGAGACCCGACGC chr2:150403951-Reference-C;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Reference C tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CAAGCGCAACGT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAcaagcgcaacgtAGATCGAGACCCGACGC chr2:150403951-Reference-C;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Reference C tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttg GACAAGTTGTTC CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccCacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAgacaagttgttcAGATCGAGACCCGACGC chr2:150403951-Reference-C;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative A tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttg GCAATCGTGCAC CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccAacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAgcaatcgtgcacAGATCGAGACCCGACGC chr2:150403951-Alternative-A;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative T tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttg ACGCGGTGTAAG CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAacgcggtgtaagAGATCGAGACCCGACGC chr2:150403951-Alternative-T;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative T tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttg ATACCGCAGCGT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAataccgcagcgtAGATCGAGACCCGACGC chr2:150403951-Alternative-T;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Variant G tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttg GGACGCTCGATT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAggacgctcgattAGATCGAGACCCGACGC chr2:150403951-Variant-G;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Variant G tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CTGCGTGTGGAT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAActgcgtgtggatAGATCGAGACCCGACGC chr2:150403951-Variant-G;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative T tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttg GTACGAAGCCGT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAgtacgaagccgtAGATCGAGACCCGACGC chr2:150403951-Alternative-T;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative T tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttg ACTCTACACCAT CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAactctacaccatAGATCGAGACCCGACGC chr2:150403951-Alternative-T;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Alternative T tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttg GAATCGTACGCG CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccTacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAgaatcgtacgcgAGATCGAGACCCGACGC chr2:150403951-Alternative-T;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Variant G tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttg AGGAGATTGCCG CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAaggagattgccgAGATCGAGACCCGACGC chr2:150403951-Variant-G;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Variant G tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CATTACCTAGTC CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAcattacctagtcAGATCGAGACCCGACGC chr2:150403951-Variant-G;Patient-15 chr2:150403951-CG DeNovo Patient-15 intergenic NA 3.92e-05 -0.43 0.14 0 MMADHC 40378 Variant G tttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttg CAGATGCGATAA CGACGCGGTCTCTCTCTtttattgatttgcatatattgaaccagccttgcatcccagggatgaagccGacttgatcatggtggataagctttttgatgtgctgttggattcggtttgAGAGGGAGACGGACGTCTCAATAAcagatgcgataaAGATCGAGACCCGACGC chr2:150403951-Variant-G;Patient-15 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative C taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga AGTATACAACGG CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAagtatacaacggAGATCGAGACCCGACGC chr2:153033295-Alternative-C;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative C taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GACGAGCATAAT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgacgagcataatAGATCGAGACCCGACGC chr2:153033295-Alternative-C;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative C taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GGTTGCGTTACG CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAggttgcgttacgAGATCGAGACCCGACGC chr2:153033295-Alternative-C;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative C taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GTCAATGGTAGA CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgtcaatggtagaAGATCGAGACCCGACGC chr2:153033295-Alternative-C;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Reference A taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga CAGGATACCTTA CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAcaggataccttaAGATCGAGACCCGACGC chr2:153033295-Reference-A;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Reference A taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga CAAGATTCGAGT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAcaagattcgagtAGATCGAGACCCGACGC chr2:153033295-Reference-A;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Variant G taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga CGTCTATCAATC CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAcgtctatcaatcAGATCGAGACCCGACGC chr2:153033295-Variant-G;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Variant G taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga ATAGCGACACCG CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAatagcgacaccgAGATCGAGACCCGACGC chr2:153033295-Variant-G;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Variant G taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga ATCGGACGAGGT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAatcggacgaggtAGATCGAGACCCGACGC chr2:153033295-Variant-G;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Variant G taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga CAGTTGTTACGA CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAcagttgttacgaAGATCGAGACCCGACGC chr2:153033295-Variant-G;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative C taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GTGAACGTCCAT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacCgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgtgaacgtccatAGATCGAGACCCGACGC chr2:153033295-Alternative-C;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative T taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga ATCGTGTCACTT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAatcgtgtcacttAGATCGAGACCCGACGC chr2:153033295-Alternative-T;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative T taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GCAGGTGATCAT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgcaggtgatcatAGATCGAGACCCGACGC chr2:153033295-Alternative-T;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative T taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GTAAGCCACCGA CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgtaagccaccgaAGATCGAGACCCGACGC chr2:153033295-Alternative-T;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative T taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GGCGTGTTACGT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAggcgtgttacgtAGATCGAGACCCGACGC chr2:153033295-Alternative-T;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Variant G taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GCATACTAGGTT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacGgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgcatactaggttAGATCGAGACCCGACGC chr2:153033295-Variant-G;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Reference A taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga AGGACGGTTGAC CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAaggacggttgacAGATCGAGACCCGACGC chr2:153033295-Reference-A;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Reference A taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GCGAATCGTAGG CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgcgaatcgtaggAGATCGAGACCCGACGC chr2:153033295-Reference-A;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Alternative T taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GGTAAGCATTGT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacTgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAggtaagcattgtAGATCGAGACCCGACGC chr2:153033295-Alternative-T;Patient-92 chr2:153033295-AG Inherited Patient-92 intergenic 0.000414 0.000513 0.09 4.04 -1.56 CACNB4 77701 Reference A taatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattga GTTCGAGAGCAT CGACGCGGTCTCTCTCTtaatagacgctcaatgcttttcgaatgaagctgtaactttctaactgaacAgtgcgtatctaaagatgtcaactactggtaaattgcagccatttattgaAGAGGGAGACGGACGTCTCAATAAgttcgagagcatAGATCGAGACCCGACGC chr2:153033295-Reference-A;Patient-92 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Reference T acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GAGCACAATAAC CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgagcacaataacAGATCGAGACCCGACGC chr2:157133672-Reference-T;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative G acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CAGTAGGAGCGT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcagtaggagcgtAGATCGAGACCCGACGC chr2:157133672-Alternative-G;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Reference T acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ACTGTTAATCGC CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAactgttaatcgcAGATCGAGACCCGACGC chr2:157133672-Reference-T;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Reference T acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GCGATACTAACG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgcgatactaacgAGATCGAGACCCGACGC chr2:157133672-Reference-T;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Reference T acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc AGGTGATTCGTT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAaggtgattcgttAGATCGAGACCCGACGC chr2:157133672-Reference-T;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative G acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CGAATTAGGTTC CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcgaattaggttcAGATCGAGACCCGACGC chr2:157133672-Alternative-G;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Variant C acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GTTCCATGACGG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgttccatgacggAGATCGAGACCCGACGC chr2:157133672-Variant-C;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Reference T acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ATCGAAGAGAGT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagTtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAatcgaagagagtAGATCGAGACCCGACGC chr2:157133672-Reference-T;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative G acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ACGTAGGCTAAT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAacgtaggctaatAGATCGAGACCCGACGC chr2:157133672-Alternative-G;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative A acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CGAGTATTCGCG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcgagtattcgcgAGATCGAGACCCGACGC chr2:157133672-Alternative-A;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative A acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GGCTGTAGATCG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAggctgtagatcgAGATCGAGACCCGACGC chr2:157133672-Alternative-A;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative A acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GACCTACATCCA CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgacctacatccaAGATCGAGACCCGACGC chr2:157133672-Alternative-A;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Variant C acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GCAGGTGTTGAG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgcaggtgttgagAGATCGAGACCCGACGC chr2:157133672-Variant-C;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Variant C acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CGAATCGCGCTT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcgaatcgcgcttAGATCGAGACCCGACGC chr2:157133672-Variant-C;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Variant C acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc GAATATTCCTGG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAgaatattcctggAGATCGAGACCCGACGC chr2:157133672-Variant-C;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative A acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ACGTTCTGAGAT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAacgttctgagatAGATCGAGACCCGACGC chr2:157133672-Alternative-A;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative A acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ACAGGTCTTCTT CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagAtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAacaggtcttcttAGATCGAGACCCGACGC chr2:157133672-Alternative-A;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Variant C acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CAGACGGACCTA CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagCtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcagacggacctaAGATCGAGACCCGACGC chr2:157133672-Variant-C;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative G acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc ACCAAGATGCCG CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAaccaagatgccgAGATCGAGACCCGACGC chr2:157133672-Alternative-G;Patient-91 chr2:157133672-TC Inherited Patient-91 intergenic 3.2e-05 0.000513 0.1 4.24 -0.03 NR4A2 55614 Alternative G acatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggacc CGCGCTAGGTTA CGACGCGGTCTCTCTCTacatctgttaatgaagcctaagcactgaactgtttctatcagttgggaagGtgctagctctgtggccaggcattgctctatacaaaagtgaataaggaccAGAGGGAGACGGACGTCTCAATAAcgcgctaggttaAGATCGAGACCCGACGC chr2:157133672-Alternative-G;Patient-91 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Reference G gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CTCACAACCAGA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAActcacaaccagaAGATCGAGACCCGACGC chr2:157259652-Reference-G;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative T gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GGCGAAGAGCAT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAggcgaagagcatAGATCGAGACCCGACGC chr2:157259652-Alternative-T;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative A gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GACATTATGACC CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgacattatgaccAGATCGAGACCCGACGC chr2:157259652-Alternative-A;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative T gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GAGCAGCAGTGT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgagcagcagtgtAGATCGAGACCCGACGC chr2:157259652-Alternative-T;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative T gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GCAATCGCGAAC CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgcaatcgcgaacAGATCGAGACCCGACGC chr2:157259652-Alternative-T;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Reference G gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa AATGTCGGCGCA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAaatgtcggcgcaAGATCGAGACCCGACGC chr2:157259652-Reference-G;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative A gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GGCGCGATTAGT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAggcgcgattagtAGATCGAGACCCGACGC chr2:157259652-Alternative-A;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Reference G gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CTAGCGCGAGTT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAActagcgcgagttAGATCGAGACCCGACGC chr2:157259652-Reference-G;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative T gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa AACACCGCATTA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAaacaccgcattaAGATCGAGACCCGACGC chr2:157259652-Alternative-T;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Reference G gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GCATATAAGACG CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgcatataagacgAGATCGAGACCCGACGC chr2:157259652-Reference-G;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative T gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CGTAACATGCTA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaTaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAcgtaacatgctaAGATCGAGACCCGACGC chr2:157259652-Alternative-T;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Variant C gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GCAACTGTTCGG CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgcaactgttcggAGATCGAGACCCGACGC chr2:157259652-Variant-C;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Variant C gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GCGGTTGCGTAA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgcggttgcgtaaAGATCGAGACCCGACGC chr2:157259652-Variant-C;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Reference G gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa AGTGAATGCACA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaGaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAagtgaatgcacaAGATCGAGACCCGACGC chr2:157259652-Reference-G;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative A gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa ATATAGCGCGAA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAatatagcgcgaaAGATCGAGACCCGACGC chr2:157259652-Alternative-A;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Variant C gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CAGGCGAACGAA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAcaggcgaacgaaAGATCGAGACCCGACGC chr2:157259652-Variant-C;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative A gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa AGTATCGTGCGA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAagtatcgtgcgaAGATCGAGACCCGACGC chr2:157259652-Alternative-A;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Variant C gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CGTGCTATCAGT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAcgtgctatcagtAGATCGAGACCCGACGC chr2:157259652-Variant-C;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Alternative A gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa CTGGCATACTGA CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaAaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAActggcatactgaAGATCGAGACCCGACGC chr2:157259652-Alternative-A;Patient-1 chr2:157259652-GC DeNovo Patient-1 intergenic NA 0.000513 -0.21 0.68 0.27 GPD2 32312 Variant C gggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaa GTACTATACGGT CGACGCGGTCTCTCTCTgggcgacaaagtgagcccctgtctcaaaaaaaaaaaaaaaaaaaatctcaCaacacaaggaaaaaagtcttatgtaaaacattactagtggcctacctaaAGAGGGAGACGGACGTCTCAATAAgtactatacggtAGATCGAGACCCGACGC chr2:157259652-Variant-C;Patient-1 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative C ctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgttt AGACCATACAGT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAagaccatacagtAGATCGAGACCCGACGC chr2:158445665-Alternative-C;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative T ctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgttt AGCAGCGGTAAC CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAagcagcggtaacAGATCGAGACCCGACGC chr2:158445665-Alternative-T;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative T ctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgttt CTATTGTCGTCA CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAActattgtcgtcaAGATCGAGACCCGACGC chr2:158445665-Alternative-T;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Variant A ctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgttt ACCACATGCCAT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAaccacatgccatAGATCGAGACCCGACGC chr2:158445665-Variant-A;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Variant A ctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgttt CGCAATGCTCTA CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAcgcaatgctctaAGATCGAGACCCGACGC chr2:158445665-Variant-A;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Reference G ctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GCATGTTGTCAA CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAgcatgttgtcaaAGATCGAGACCCGACGC chr2:158445665-Reference-G;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Reference G ctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgttt CGGTGTTCGGAT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAcggtgttcggatAGATCGAGACCCGACGC chr2:158445665-Reference-G;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative C ctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GCAACTCTAACT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAgcaactctaactAGATCGAGACCCGACGC chr2:158445665-Alternative-C;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative C ctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgttt CGTACGCCTATC CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAcgtacgcctatcAGATCGAGACCCGACGC chr2:158445665-Alternative-C;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative C ctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgttt AAGCATGAGTGG CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAaagcatgagtggAGATCGAGACCCGACGC chr2:158445665-Alternative-C;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Variant A ctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgttt ATATGTGCGGTT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAatatgtgcggttAGATCGAGACCCGACGC chr2:158445665-Variant-A;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Variant A ctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GTACACAGCGTC CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAgtacacagcgtcAGATCGAGACCCGACGC chr2:158445665-Variant-A;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative T ctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GTCGTCAAGTAA CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAgtcgtcaagtaaAGATCGAGACCCGACGC chr2:158445665-Alternative-T;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Reference G ctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgttt ACATCGTTCGCG CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAacatcgttcgcgAGATCGAGACCCGACGC chr2:158445665-Reference-G;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Reference G ctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GGAACTTCTCTT CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAggaacttctcttAGATCGAGACCCGACGC chr2:158445665-Reference-G;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Reference G ctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgttt AGCATACTAAGG CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaGggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAagcatactaaggAGATCGAGACCCGACGC chr2:158445665-Reference-G;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative T ctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GTTACGATAAGG CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAgttacgataaggAGATCGAGACCCGACGC chr2:158445665-Alternative-T;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Variant A ctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgttt AATCGGTGTCTA CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaAggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAaatcggtgtctaAGATCGAGACCCGACGC chr2:158445665-Variant-A;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative C ctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgttt GGCAAGCTATAC CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaCggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAggcaagctatacAGATCGAGACCCGACGC chr2:158445665-Alternative-C;Patient-30 chr2:158445665-GA Inherited Patient-30 intronic ACVR1C 0.000609 9.9e-05 NA NA NA ACVR1C 39851 Alternative T ctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgttt ACTCATAGATGG CGACGCGGTCTCTCTCTctccatactgttttccatagacactgtaataatttaagttcccatcagcaTggtataagcatttgcttttcaccatatccacaccaaacatctattgtttAGAGGGAGACGGACGTCTCAATAAactcatagatggAGATCGAGACCCGACGC chr2:158445665-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative C agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GAAGAGATCGGC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgaagagatcggcAGATCGAGACCCGACGC chr2:158477798-Alternative-C;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative C agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CGTCCATCGTGT CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAcgtccatcgtgtAGATCGAGACCCGACGC chr2:158477798-Alternative-C;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative C agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GCGGTTGGTTCT CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgcggttggttctAGATCGAGACCCGACGC chr2:158477798-Alternative-C;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative C agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GTGTACTGAACC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgtgtactgaaccAGATCGAGACCCGACGC chr2:158477798-Alternative-C;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Variant A agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat AACGTACCTACG CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAaacgtacctacgAGATCGAGACCCGACGC chr2:158477798-Variant-A;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Variant A agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat ATCGGCTTGCGA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAatcggcttgcgaAGATCGAGACCCGACGC chr2:158477798-Variant-A;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Variant A agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat ATAGATTACCGC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAatagattaccgcAGATCGAGACCCGACGC chr2:158477798-Variant-A;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Variant A agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat ACTCACATCACG CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAactcacatcacgAGATCGAGACCCGACGC chr2:158477798-Variant-A;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Variant A agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CGTGACGCGATT CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccAtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAcgtgacgcgattAGATCGAGACCCGACGC chr2:158477798-Variant-A;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative T agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GTTAGCCTACTT CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgttagcctacttAGATCGAGACCCGACGC chr2:158477798-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative T agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GGTTCGGAGACA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAggttcggagacaAGATCGAGACCCGACGC chr2:158477798-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative T agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CAACGCGGAGAA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAcaacgcggagaaAGATCGAGACCCGACGC chr2:158477798-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative T agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CGGATCGTTGAG CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAcggatcgttgagAGATCGAGACCCGACGC chr2:158477798-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative T agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GATCGGCTGTGA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccTtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgatcggctgtgaAGATCGAGACCCGACGC chr2:158477798-Alternative-T;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Reference G agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CTATCACCAACC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAActatcaccaaccAGATCGAGACCCGACGC chr2:158477798-Reference-G;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Reference G agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GGTAGTAAGGCA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAggtagtaaggcaAGATCGAGACCCGACGC chr2:158477798-Reference-G;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Reference G agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat CGGCCAAGATAC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAcggccaagatacAGATCGAGACCCGACGC chr2:158477798-Reference-G;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Reference G agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GACGAGCGATAC CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAgacgagcgatacAGATCGAGACCCGACGC chr2:158477798-Reference-G;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Reference G agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat AATGGCGAACAG CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccGtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAaatggcgaacagAGATCGAGACCCGACGC chr2:158477798-Reference-G;Patient-30 chr2:158477798-GA Inherited Patient-30 intronic ACVR1C 0.000637 9.9e-05 NA NA NA ACVR1C 7718 Alternative C agaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcat GGATATCGATCA CGACGCGGTCTCTCTCTagaagctattctagaggaaaaaaagtgaagaatcaggacacagcagagccCtgttagcctggctggccaatcagagcagtgaattcaaggggcacatcatAGAGGGAGACGGACGTCTCAATAAggatatcgatcaAGATCGAGACCCGACGC chr2:158477798-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Reference T gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CTTGACTGTCAT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAActtgactgtcatAGATCGAGACCCGACGC chr2:158666150-Reference-T;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Reference T gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga ACTGCGTGGTTC CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAactgcgtggttcAGATCGAGACCCGACGC chr2:158666150-Reference-T;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative G gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GTGATACACGTT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgtgatacacgttAGATCGAGACCCGACGC chr2:158666150-Alternative-G;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative G gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GTAGTCGTATGT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgtagtcgtatgtAGATCGAGACCCGACGC chr2:158666150-Alternative-G;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative G gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga ATCTCACCGATT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAatctcaccgattAGATCGAGACCCGACGC chr2:158666150-Alternative-G;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative G gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CGCAGAGAATCA CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAcgcagagaatcaAGATCGAGACCCGACGC chr2:158666150-Alternative-G;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative G gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CAGTCGGATTAT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaGaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAcagtcggattatAGATCGAGACCCGACGC chr2:158666150-Alternative-G;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative C gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CAATACTTGGAC CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAcaatacttggacAGATCGAGACCCGACGC chr2:158666150-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative C gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CACGTCCGGATT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAcacgtccggattAGATCGAGACCCGACGC chr2:158666150-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative C gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga CAGATGCGATGC CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAcagatgcgatgcAGATCGAGACCCGACGC chr2:158666150-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative C gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga AGTTGGCAAGTT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAagttggcaagttAGATCGAGACCCGACGC chr2:158666150-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Alternative C gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga AAGCACGTTCAT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaCaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAaagcacgttcatAGATCGAGACCCGACGC chr2:158666150-Alternative-C;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Variant A gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GTTCAATAGCGT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgttcaatagcgtAGATCGAGACCCGACGC chr2:158666150-Variant-A;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Variant A gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga ACCTCGAGGCTA CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAacctcgaggctaAGATCGAGACCCGACGC chr2:158666150-Variant-A;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Variant A gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GCGGATTCGAAC CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgcggattcgaacAGATCGAGACCCGACGC chr2:158666150-Variant-A;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Variant A gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GTAACACACGAA CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgtaacacacgaaAGATCGAGACCCGACGC chr2:158666150-Variant-A;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Variant A gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GGCGAGCTGAAT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaAaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAggcgagctgaatAGATCGAGACCCGACGC chr2:158666150-Variant-A;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Reference T gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga GATCCACGGCTT CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAgatccacggcttAGATCGAGACCCGACGC chr2:158666150-Reference-T;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Reference T gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga AGAGTAGTGTAC CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAagagtagtgtacAGATCGAGACCCGACGC chr2:158666150-Reference-T;Patient-30 chr2:158666150-TA Inherited Patient-30 intronic ACVR1 0.000734 0.000319489 NA NA NA ACVR1 66223 Reference T gatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtaggga ATAACTCGTAGG CGACGCGGTCTCTCTCTgatataaccaaaaaaccacccactcgaccagaaacactcactgacctaaaTaagaaaacaatgttaaaagtaaaaataaatgcactctatgaagtagggaAGAGGGAGACGGACGTCTCAATAAataactcgtaggAGATCGAGACCCGACGC chr2:158666150-Reference-T;Patient-30 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Reference A tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GGTTGCACATTA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAggttgcacattaAGATCGAGACCCGACGC chr2:158761841-Reference-A;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Reference A tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg CAGTTGGTCATA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAcagttggtcataAGATCGAGACCCGACGC chr2:158761841-Reference-A;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Reference A tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg ATAAGCGGCGCT CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAataagcggcgctAGATCGAGACCCGACGC chr2:158761841-Reference-A;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative C tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GCGCAAGATGAT CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgcgcaagatgatAGATCGAGACCCGACGC chr2:158761841-Alternative-C;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Reference A tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GTGTCCGTTGTC CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgtgtccgttgtcAGATCGAGACCCGACGC chr2:158761841-Reference-A;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative C tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg CGGAATGTGTGG CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAcggaatgtgtggAGATCGAGACCCGACGC chr2:158761841-Alternative-C;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Reference A tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GATACTTGCCGG CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccAgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgatacttgccggAGATCGAGACCCGACGC chr2:158761841-Reference-A;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative C tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg CGCTAGCTCTTA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAcgctagctcttaAGATCGAGACCCGACGC chr2:158761841-Alternative-C;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Variant T tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg AAGCATGCTAGA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAaagcatgctagaAGATCGAGACCCGACGC chr2:158761841-Variant-T;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative C tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GACATACTAACC CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgacatactaaccAGATCGAGACCCGACGC chr2:158761841-Alternative-C;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Variant T tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg CGATCGGATTCG CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAcgatcggattcgAGATCGAGACCCGACGC chr2:158761841-Variant-T;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative G tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg CAAGGAATTGAG CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAcaaggaattgagAGATCGAGACCCGACGC chr2:158761841-Alternative-G;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative C tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg ACTTGAGTTCGA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccCgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAacttgagttcgaAGATCGAGACCCGACGC chr2:158761841-Alternative-C;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Variant T tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GCAAGTGATCTT CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgcaagtgatcttAGATCGAGACCCGACGC chr2:158761841-Variant-T;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative G tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GAGGTTAACAAC CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgaggttaacaacAGATCGAGACCCGACGC chr2:158761841-Alternative-G;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative G tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GACGGACCTAAT CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgacggacctaatAGATCGAGACCCGACGC chr2:158761841-Alternative-G;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative G tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg AAGCAATCAGCA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAaagcaatcagcaAGATCGAGACCCGACGC chr2:158761841-Alternative-G;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Variant T tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GAGTCTAGTGAA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAgagtctagtgaaAGATCGAGACCCGACGC chr2:158761841-Variant-T;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Variant T tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg GGATAGACCATA CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccTgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAggatagaccataAGATCGAGACCCGACGC chr2:158761841-Variant-T;Patient-10 chr2:158761841-AT DeNovo Patient-10 intergenic NA 0.000513 0.04 3.21 0.19 ACVR1 29466 Alternative G tacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctg ATCCTCGCCAAG CGACGCGGTCTCTCTCTtacctcagcctcaccagtagctggggctataggcacaagccaccatgcccGgctaacttctgtattttttgtggaaacgggattttgtggccaggcgctgAGAGGGAGACGGACGTCTCAATAAatcctcgccaagAGATCGAGACCCGACGC chr2:158761841-Alternative-G;Patient-10 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Reference G tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataa CAAGGAAGTATC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAcaaggaagtatcAGATCGAGACCCGACGC chr2:158785702-Reference-G;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Variant A tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AGCTTCCTCGAC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAagcttcctcgacAGATCGAGACCCGACGC chr2:158785702-Variant-A;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Reference G tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataa ACAGCGGTATCG CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAacagcggtatcgAGATCGAGACCCGACGC chr2:158785702-Reference-G;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative T tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AACGACTAACGA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAaacgactaacgaAGATCGAGACCCGACGC chr2:158785702-Alternative-T;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative C tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataa GTTCGTGCAGCA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAgttcgtgcagcaAGATCGAGACCCGACGC chr2:158785702-Alternative-C;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Variant A tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AGGTGTTCGTAA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAaggtgttcgtaaAGATCGAGACCCGACGC chr2:158785702-Variant-A;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative C tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataa GGTTACCGGTTC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAggttaccggttcAGATCGAGACCCGACGC chr2:158785702-Alternative-C;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Reference G tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AGTCGGAGCAGT CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAagtcggagcagtAGATCGAGACCCGACGC chr2:158785702-Reference-G;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Variant A tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AGTGGCATCGAG CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAagtggcatcgagAGATCGAGACCCGACGC chr2:158785702-Variant-A;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative C tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataa ACTTCACTTGAC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAacttcacttgacAGATCGAGACCCGACGC chr2:158785702-Alternative-C;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative C tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataa CAACGAATCGGC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAcaacgaatcggcAGATCGAGACCCGACGC chr2:158785702-Alternative-C;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Variant A tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AACGTCCGGTAA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAaacgtccggtaaAGATCGAGACCCGACGC chr2:158785702-Variant-A;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative T tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataa GTACGTGTTGCA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAgtacgtgttgcaAGATCGAGACCCGACGC chr2:158785702-Alternative-T;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Reference G tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataa CACGATCCAAGG CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAcacgatccaaggAGATCGAGACCCGACGC chr2:158785702-Reference-G;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative C tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataa AATGTCTACGGT CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaCcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAaatgtctacggtAGATCGAGACCCGACGC chr2:158785702-Alternative-C;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative T tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataa GTACGAGTGAAT CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAgtacgagtgaatAGATCGAGACCCGACGC chr2:158785702-Alternative-T;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Reference G tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataa ACGCGAGTGTTC CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaGcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAacgcgagtgttcAGATCGAGACCCGACGC chr2:158785702-Reference-G;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Variant A tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataa CGATACATGCGA CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaAcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAcgatacatgcgaAGATCGAGACCCGACGC chr2:158785702-Variant-A;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative T tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataa ACACGTGATAAG CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAacacgtgataagAGATCGAGACCCGACGC chr2:158785702-Alternative-T;Patient-3 chr2:158785702-GA DeNovo Patient-3 intergenic NA 0.000513 0.1 4.24 0.42 ACVR1 53327 Alternative T tgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataa ATAGCGAGAACG CGACGCGGTCTCTCTCTtgtctcatcagctgtagtcaatgtctttctgggacaataatgccagagcaTcaatgtctcatcagcattatagacttgttctggcatccaattttcataaAGAGGGAGACGGACGTCTCAATAAatagcgagaacgAGATCGAGACCCGACGC chr2:158785702-Alternative-T;Patient-3 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Variant G cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CTCTAGCCAAGT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAActctagccaagtAGATCGAGACCCGACGC chr2:159369116-Variant-G;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Variant G cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CGTTGGACGTCA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcgttggacgtcaAGATCGAGACCCGACGC chr2:159369116-Variant-G;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Reference T cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtata AGAACGCCTCGA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAagaacgcctcgaAGATCGAGACCCGACGC chr2:159369116-Reference-T;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Reference T cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtata AGCTACTGGTCA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAagctactggtcaAGATCGAGACCCGACGC chr2:159369116-Reference-T;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Variant G cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtata GCCGCATGTAAC CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAgccgcatgtaacAGATCGAGACCCGACGC chr2:159369116-Variant-G;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative C cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtata GTGTAACAGGCG CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAgtgtaacaggcgAGATCGAGACCCGACGC chr2:159369116-Alternative-C;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative C cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtata GACGCTGTTGGT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAgacgctgttggtAGATCGAGACCCGACGC chr2:159369116-Alternative-C;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative C cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CAAGCATACGTT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcaagcatacgttAGATCGAGACCCGACGC chr2:159369116-Alternative-C;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative A cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CAAGGTTGGTAA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcaaggttggtaaAGATCGAGACCCGACGC chr2:159369116-Alternative-A;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Variant G cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CGGTATGACCGA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcggtatgaccgaAGATCGAGACCCGACGC chr2:159369116-Variant-G;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative C cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtata AAGGCCATGCGA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAaaggccatgcgaAGATCGAGACCCGACGC chr2:159369116-Alternative-C;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative C cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CAGCATCGATAC CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagCgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcagcatcgatacAGATCGAGACCCGACGC chr2:159369116-Alternative-C;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative A cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtata AATGCGCATAAC CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAaatgcgcataacAGATCGAGACCCGACGC chr2:159369116-Alternative-A;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative A cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtata ACCGGTTAGTAT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAaccggttagtatAGATCGAGACCCGACGC chr2:159369116-Alternative-A;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative A cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CACATAACGACC CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAcacataacgaccAGATCGAGACCCGACGC chr2:159369116-Alternative-A;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Alternative A cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtata GCAACCGATCAT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagAgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAgcaaccgatcatAGATCGAGACCCGACGC chr2:159369116-Alternative-A;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Reference T cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtata GACGATAGATAC CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAgacgatagatacAGATCGAGACCCGACGC chr2:159369116-Reference-T;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Variant G cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtata ACAATAGCATCG CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagGgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAacaatagcatcgAGATCGAGACCCGACGC chr2:159369116-Variant-G;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Reference T cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtata CTGTGCTCAATT CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAActgtgctcaattAGATCGAGACCCGACGC chr2:159369116-Reference-T;Patient-30 chr2:159369116-TG Inherited Patient-30 intronic PKP4 0.000955 0.000319 NA NA NA PKP4 55639 Reference T cactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtata ACCGGTAATGAA CGACGCGGTCTCTCTCTcactgtacacttgtgaatcaacatgtaactgttttcatcatgttctaaagTgactaatagatgtatattacccatcatgaccaaccttttgatttgtataAGAGGGAGACGGACGTCTCAATAAaccggtaatgaaAGATCGAGACCCGACGC chr2:159369116-Reference-T;Patient-30 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Variant T ttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaa CGGAGTTCACAG CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAcggagttcacagAGATCGAGACCCGACGC chr2:161354704-Variant-T;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Reference A ttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GGTAAGCACGTC CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAggtaagcacgtcAGATCGAGACCCGACGC chr2:161354704-Reference-A;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Reference A ttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaa ACGTCGTCAGGT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAacgtcgtcaggtAGATCGAGACCCGACGC chr2:161354704-Reference-A;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Variant T ttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GTACGGATCGTC CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgtacggatcgtcAGATCGAGACCCGACGC chr2:161354704-Variant-T;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Reference A ttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaa AGCCAATGGATA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAagccaatggataAGATCGAGACCCGACGC chr2:161354704-Reference-A;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Reference A ttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaa ACGACTCCGTCT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAacgactccgtctAGATCGAGACCCGACGC chr2:161354704-Reference-A;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Reference A ttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GAGTATATGCGA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttAtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgagtatatgcgaAGATCGAGACCCGACGC chr2:161354704-Reference-A;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative G ttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaa AGACGCGGAACA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAagacgcggaacaAGATCGAGACCCGACGC chr2:161354704-Alternative-G;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Variant T ttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GGATAATCGAGT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAggataatcgagtAGATCGAGACCCGACGC chr2:161354704-Variant-T;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative G ttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaa ACTGCGTCCACA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAactgcgtccacaAGATCGAGACCCGACGC chr2:161354704-Alternative-G;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative G ttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaa ACACATTACGCG CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAacacattacgcgAGATCGAGACCCGACGC chr2:161354704-Alternative-G;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Variant T ttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GATGACTGACTT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgatgactgacttAGATCGAGACCCGACGC chr2:161354704-Variant-T;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative G ttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GTTCTAGCGTAA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgttctagcgtaaAGATCGAGACCCGACGC chr2:161354704-Alternative-G;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative C ttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaa CTGAATTAACGG CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAActgaattaacggAGATCGAGACCCGACGC chr2:161354704-Alternative-C;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative G ttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GAATGCGCGCTA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttGtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgaatgcgcgctaAGATCGAGACCCGACGC chr2:161354704-Alternative-G;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Variant T ttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GACAAGTAACCA CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttTtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgacaagtaaccaAGATCGAGACCCGACGC chr2:161354704-Variant-T;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative C ttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaa ATCCGTTACCAT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAatccgttaccatAGATCGAGACCCGACGC chr2:161354704-Alternative-C;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative C ttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GCAGCATCGACT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgcagcatcgactAGATCGAGACCCGACGC chr2:161354704-Alternative-C;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative C ttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaa GTTGGTCATCGG CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAgttggtcatcggAGATCGAGACCCGACGC chr2:161354704-Alternative-C;Patient-59 chr2:161354704-AT Inherited Patient-59 intergenic 7.6e-05 0.00103 0.04 3.31 -0.46 RBMS1 4385 Alternative C ttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaa AGGACCTCTAAT CGACGCGGTCTCTCTCTttttttttttcttttggctttttagcatgataagattgtcccaggttcttCtacggttcatacccagatctgagtcagctatcagccatttctctttaaaAGAGGGAGACGGACGTCTCAATAAaggacctctaatAGATCGAGACCCGACGC chr2:161354704-Alternative-C;Patient-59 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Reference T ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GTGTCGTGTAAT CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgtgtcgtgtaatAGATCGAGACCCGACGC chr2:16136867-Reference-T;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Reference T ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CTTAACGCTCTA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAActtaacgctctaAGATCGAGACCCGACGC chr2:16136867-Reference-T;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative G ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ATTCCAACAACC CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAattccaacaaccAGATCGAGACCCGACGC chr2:16136867-Alternative-G;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative G ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CGATACGATAGA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAcgatacgatagaAGATCGAGACCCGACGC chr2:16136867-Alternative-G;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative G ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GGATAGGCATGC CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAggataggcatgcAGATCGAGACCCGACGC chr2:16136867-Alternative-G;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Reference T ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CTAGCCGCGTAT CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAActagccgcgtatAGATCGAGACCCGACGC chr2:16136867-Reference-T;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative G ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GCAGTTCCATGG CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgcagttccatggAGATCGAGACCCGACGC chr2:16136867-Alternative-G;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Variant C ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ACCTACGCTCGT CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAacctacgctcgtAGATCGAGACCCGACGC chr2:16136867-Variant-C;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Variant C ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CGAGTTCGACAC CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAcgagttcgacacAGATCGAGACCCGACGC chr2:16136867-Variant-C;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative A ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GGTGTCTGTCGA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAggtgtctgtcgaAGATCGAGACCCGACGC chr2:16136867-Alternative-A;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Variant C ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ACTGTTCGGTGG CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAactgttcggtggAGATCGAGACCCGACGC chr2:16136867-Variant-C;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative A ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GTTGGATGGTCG CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgttggatggtcgAGATCGAGACCCGACGC chr2:16136867-Alternative-A;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Variant C ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ACGCGTACGTTC CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAacgcgtacgttcAGATCGAGACCCGACGC chr2:16136867-Variant-C;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Variant C ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GAGATCTGGTAA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccCggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgagatctggtaaAGATCGAGACCCGACGC chr2:16136867-Variant-C;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative A ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GATAGTCTCGGC CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgatagtctcggcAGATCGAGACCCGACGC chr2:16136867-Alternative-A;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative A ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CGTCTAATATGG CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAcgtctaatatggAGATCGAGACCCGACGC chr2:16136867-Alternative-A;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative A ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttca CGACCGCAATTA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccAggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAcgaccgcaattaAGATCGAGACCCGACGC chr2:16136867-Alternative-A;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Alternative G ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ACAGCTACGCGA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccGggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAacagctacgcgaAGATCGAGACCCGACGC chr2:16136867-Alternative-G;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Reference T ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttca GCCGAAGATCCA CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAgccgaagatccaAGATCGAGACCCGACGC chr2:16136867-Reference-T;Patient-6 chr2:16136867-TC DeNovo Patient-6 intergenic NA 0.000513 0.63 10.5 1.95 MYCN 56183 Reference T ttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttca ACGATGCTAACG CGACGCGGTCTCTCTCTttgtgcaaattaaccagaatatagtaaagtagcaagctctactgagggccTggaatccatttcatgtcctaatgcatagtcattactcataatatgttcaAGAGGGAGACGGACGTCTCAATAAacgatgctaacgAGATCGAGACCCGACGC chr2:16136867-Reference-T;Patient-6 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Variant G cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CAATGCGTACAT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAcaatgcgtacatAGATCGAGACCCGACGC chr2:161902190-Variant-G;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative T cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CTCGCTCTCGTT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAActcgctctcgttAGATCGAGACCCGACGC chr2:161902190-Alternative-T;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative T cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga GGATGATTAGCA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAggatgattagcaAGATCGAGACCCGACGC chr2:161902190-Alternative-T;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Variant G cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga ACACCTTCTTGA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAacaccttcttgaAGATCGAGACCCGACGC chr2:161902190-Variant-G;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Variant G cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga GAGTTGAACAAG CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAgagttgaacaagAGATCGAGACCCGACGC chr2:161902190-Variant-G;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Variant G cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CTAATCGGTAGA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAActaatcggtagaAGATCGAGACCCGACGC chr2:161902190-Variant-G;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Variant G cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CGAACCTCGTGA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtGaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAcgaacctcgtgaAGATCGAGACCCGACGC chr2:161902190-Variant-G;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative T cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga ATTGCCGCAGCA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAattgccgcagcaAGATCGAGACCCGACGC chr2:161902190-Alternative-T;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative T cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CGGATAAGACTA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAcggataagactaAGATCGAGACCCGACGC chr2:161902190-Alternative-T;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative T cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga ACGATAAGCGAA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtTaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAacgataagcgaaAGATCGAGACCCGACGC chr2:161902190-Alternative-T;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Reference A cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CTTGGACGACCA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAActtggacgaccaAGATCGAGACCCGACGC chr2:161902190-Reference-A;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Reference A cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga GGACATGCTATT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAggacatgctattAGATCGAGACCCGACGC chr2:161902190-Reference-A;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative C cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga ACGGCTGCGTTA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAacggctgcgttaAGATCGAGACCCGACGC chr2:161902190-Alternative-C;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative C cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga ATAAGGCGTACA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAataaggcgtacaAGATCGAGACCCGACGC chr2:161902190-Alternative-C;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative C cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga GGAACGCCTGAA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAggaacgcctgaaAGATCGAGACCCGACGC chr2:161902190-Alternative-C;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Reference A cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga GGCTATACGGTT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAggctatacggttAGATCGAGACCCGACGC chr2:161902190-Reference-A;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Reference A cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga AATCGAGGTGTT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAaatcgaggtgttAGATCGAGACCCGACGC chr2:161902190-Reference-A;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Reference A cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CTGGTCATCTAT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtAaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAActggtcatctatAGATCGAGACCCGACGC chr2:161902190-Reference-A;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative C cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CGATTCGGTGGT CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAcgattcggtggtAGATCGAGACCCGACGC chr2:161902190-Alternative-C;Patient-30 chr2:161902190-AG Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA TANK 91275 Alternative C cccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatga CAAGCAACGCCA CGACGCGGTCTCTCTCTcccacttgaaggttaagttccaggagcaaagggactttgttcactgcagtCaccccagcacctggatcattacttgcatatagcaaatgctcatgaatgaAGAGGGAGACGGACGTCTCAATAAcaagcaacgccaAGATCGAGACCCGACGC chr2:161902190-Alternative-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Reference C caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac AATGAGTGAACC CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAaatgagtgaaccAGATCGAGACCCGACGC chr2:161980415-Reference-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Reference C caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac ATTGCGTTCGAA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAattgcgttcgaaAGATCGAGACCCGACGC chr2:161980415-Reference-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Variant A caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CAACCGTCTGAA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAcaaccgtctgaaAGATCGAGACCCGACGC chr2:161980415-Variant-A;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Variant A caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CAAGACTAACAG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAcaagactaacagAGATCGAGACCCGACGC chr2:161980415-Variant-A;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Reference C caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac ACGCACTTGTAA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAacgcacttgtaaAGATCGAGACCCGACGC chr2:161980415-Reference-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Variant A caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac AGAGTTACGGCG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAagagttacggcgAGATCGAGACCCGACGC chr2:161980415-Variant-A;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Variant A caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CACTTCCTGAAC CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAcacttcctgaacAGATCGAGACCCGACGC chr2:161980415-Variant-A;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Variant A caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac ATTAAGGACGCA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcAacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAattaaggacgcaAGATCGAGACCCGACGC chr2:161980415-Variant-A;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Reference C caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac GAATTGCGCTTA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAgaattgcgcttaAGATCGAGACCCGACGC chr2:161980415-Reference-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative T caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac GTGTAGTTGGCG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAgtgtagttggcgAGATCGAGACCCGACGC chr2:161980415-Alternative-T;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative T caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac GAGTTGTAACAC CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAgagttgtaacacAGATCGAGACCCGACGC chr2:161980415-Alternative-T;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Reference C caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CGTCGTAGGTGT CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcCacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAcgtcgtaggtgtAGATCGAGACCCGACGC chr2:161980415-Reference-C;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative T caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac GCATAACGTGAA CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAgcataacgtgaaAGATCGAGACCCGACGC chr2:161980415-Alternative-T;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative T caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CTGAATGCACCG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAActgaatgcaccgAGATCGAGACCCGACGC chr2:161980415-Alternative-T;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative T caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac AACCGATCTGCG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcTacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAaaccgatctgcgAGATCGAGACCCGACGC chr2:161980415-Alternative-T;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative G caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CTATACGAAGTC CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAActatacgaagtcAGATCGAGACCCGACGC chr2:161980415-Alternative-G;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative G caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac AATGTACGAAGG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAaatgtacgaaggAGATCGAGACCCGACGC chr2:161980415-Alternative-G;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative G caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac ATCTGTAACACG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAatctgtaacacgAGATCGAGACCCGACGC chr2:161980415-Alternative-G;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative G caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac CATATAAGGCGT CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAcatataaggcgtAGATCGAGACCCGACGC chr2:161980415-Alternative-G;Patient-30 chr2:161980415-CA Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA TANK 13050 Alternative G caaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaac GTACTATCAGCG CGACGCGGTCTCTCTCTcaaactggtccaaccacattgactgaagcaatagtttgagaaaacaagtcGacaaatcaaaccttcttgttctgtctatagatataacctgaatctaaacAGAGGGAGACGGACGTCTCAATAAgtactatcagcgAGATCGAGACCCGACGC chr2:161980415-Alternative-G;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Variant C gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctg ATCCGGATTGAT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAatccggattgatAGATCGAGACCCGACGC chr2:162058700-Variant-C;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Reference T gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctg GGTTGCTCATGG CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAggttgctcatggAGATCGAGACCCGACGC chr2:162058700-Reference-T;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Reference T gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctg AGAACGGATTCA CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAagaacggattcaAGATCGAGACCCGACGC chr2:162058700-Reference-T;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Reference T gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctg ACAACGTTGTGT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAacaacgttgtgtAGATCGAGACCCGACGC chr2:162058700-Reference-T;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative G gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctg GATCCACGCGTT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAgatccacgcgttAGATCGAGACCCGACGC chr2:162058700-Alternative-G;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative G gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctg GACCTTAAGTAC CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAgaccttaagtacAGATCGAGACCCGACGC chr2:162058700-Alternative-G;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative G gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctg GGACGATTGCGA CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAggacgattgcgaAGATCGAGACCCGACGC chr2:162058700-Alternative-G;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative A gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctg GCACGGTGTATC CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAgcacggtgtatcAGATCGAGACCCGACGC chr2:162058700-Alternative-A;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Reference T gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctg ATCCGGATTCCT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAatccggattcctAGATCGAGACCCGACGC chr2:162058700-Reference-T;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Reference T gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctg AGCCGATCAATT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttTttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAagccgatcaattAGATCGAGACCCGACGC chr2:162058700-Reference-T;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Variant C gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctg GGAGTAGATCAT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAggagtagatcatAGATCGAGACCCGACGC chr2:162058700-Variant-C;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Variant C gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctg CGTCGAGCAACT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAcgtcgagcaactAGATCGAGACCCGACGC chr2:162058700-Variant-C;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Variant C gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctg GTAACGTAGAGT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAgtaacgtagagtAGATCGAGACCCGACGC chr2:162058700-Variant-C;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Variant C gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctg GTTGTGCGTAAT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttCttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAgttgtgcgtaatAGATCGAGACCCGACGC chr2:162058700-Variant-C;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative A gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctg AGATGCCGTGGT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAagatgccgtggtAGATCGAGACCCGACGC chr2:162058700-Alternative-A;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative A gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctg CACGCTGGTAAG CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAcacgctggtaagAGATCGAGACCCGACGC chr2:162058700-Alternative-A;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative A gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctg CTAGGCTTACGG CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAActaggcttacggAGATCGAGACCCGACGC chr2:162058700-Alternative-A;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative A gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctg GGTGAACAAGTT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttAttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAggtgaacaagttAGATCGAGACCCGACGC chr2:162058700-Alternative-A;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative G gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctg ATTACCTGGCTT CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAattacctggcttAGATCGAGACCCGACGC chr2:162058700-Alternative-G;Patient-30 chr2:162058700-TC Inherited Patient-30 intronic TANK 0.000172 4.95e-05 NA NA NA TANK 65233 Alternative G gttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctg AGTAAGTTACGC CGACGCGGTCTCTCTCTgttcacctttcatttgggaaaatgtagtatttagctctaatttcttttttGttttttttttttttttttgagacagagtctggatctgttgcccaggctgAGAGGGAGACGGACGTCTCAATAAagtaagttacgcAGATCGAGACCCGACGC chr2:162058700-Alternative-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Variant G taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattctttt ACACGCGAAGAT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAacacgcgaagatAGATCGAGACCCGACGC chr2:162060744-Variant-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Variant G taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CTTGTCTGGATA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAActtgtctggataAGATCGAGACCCGACGC chr2:162060744-Variant-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Variant G taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GTTATACTTGCG CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAgttatacttgcgAGATCGAGACCCGACGC chr2:162060744-Variant-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Variant G taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CGATTCAACGGC CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAcgattcaacggcAGATCGAGACCCGACGC chr2:162060744-Variant-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative T taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattctttt ATTCGGTGTTCT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAattcggtgttctAGATCGAGACCCGACGC chr2:162060744-Alternative-T;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative T taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CGTACGGATCGT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAcgtacggatcgtAGATCGAGACCCGACGC chr2:162060744-Alternative-T;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Variant G taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattctttt AAGAACCGTTGT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaGtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAaagaaccgttgtAGATCGAGACCCGACGC chr2:162060744-Variant-G;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative T taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattctttt AGCTTGCCATAA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAagcttgccataaAGATCGAGACCCGACGC chr2:162060744-Alternative-T;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative T taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CATTCATCGACC CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAcattcatcgaccAGATCGAGACCCGACGC chr2:162060744-Alternative-T;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative C taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CGCGTCTTCTGA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAcgcgtcttctgaAGATCGAGACCCGACGC chr2:162060744-Alternative-C;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Reference A taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CTTAACGTGTGA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAActtaacgtgtgaAGATCGAGACCCGACGC chr2:162060744-Reference-A;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative T taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GTCATAGCGTAA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaTtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAgtcatagcgtaaAGATCGAGACCCGACGC chr2:162060744-Alternative-T;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative C taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GAGTGCGAATCA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAgagtgcgaatcaAGATCGAGACCCGACGC chr2:162060744-Alternative-C;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative C taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattctttt AGACGAATCCGA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAagacgaatccgaAGATCGAGACCCGACGC chr2:162060744-Alternative-C;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Reference A taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GTTATCGGCATA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAgttatcggcataAGATCGAGACCCGACGC chr2:162060744-Reference-A;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Reference A taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GGACCACAGCTT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAggaccacagcttAGATCGAGACCCGACGC chr2:162060744-Reference-A;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative C taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattctttt AGTAGTGGCTAA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAagtagtggctaaAGATCGAGACCCGACGC chr2:162060744-Alternative-C;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Alternative C taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CTCTGATGAACA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaCtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAActctgatgaacaAGATCGAGACCCGACGC chr2:162060744-Alternative-C;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Reference A taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattctttt GTCGTTCGGTCT CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAgtcgttcggtctAGATCGAGACCCGACGC chr2:162060744-Reference-A;Patient-30 chr2:162060744-AG Inherited Patient-30 intronic TANK 0.000159 4.95e-05 NA NA NA TANK 67277 Reference A taggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattctttt CAGTAACATCCA CGACGCGGTCTCTCTCTtaggaaaagaagaattctgatagaatatataaaccaaaatattaactggaAtaattcacaggtgataaaaatttgggtagcatttactttttattcttttAGAGGGAGACGGACGTCTCAATAAcagtaacatccaAGATCGAGACCCGACGC chr2:162060744-Reference-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative T aattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataataca GCCGAAGCTGAT CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAgccgaagctgatAGATCGAGACCCGACGC chr2:162060796-Alternative-T;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative T aattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataataca AATGTAAGCACG CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAaatgtaagcacgAGATCGAGACCCGACGC chr2:162060796-Alternative-T;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Reference G aattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataataca AATCGTCGGCCA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAaatcgtcggccaAGATCGAGACCCGACGC chr2:162060796-Reference-G;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Reference G aattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataataca ACGGCAGCATTC CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAacggcagcattcAGATCGAGACCCGACGC chr2:162060796-Reference-G;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative C aattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataataca ACAGCGAAGGAT CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAacagcgaaggatAGATCGAGACCCGACGC chr2:162060796-Alternative-C;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative C aattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataataca CGTCTGGAGCAT CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAcgtctggagcatAGATCGAGACCCGACGC chr2:162060796-Alternative-C;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative C aattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataataca CATCAGTCGCGA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAcatcagtcgcgaAGATCGAGACCCGACGC chr2:162060796-Alternative-C;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Variant A aattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataataca GACCGCAGCTAT CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAgaccgcagctatAGATCGAGACCCGACGC chr2:162060796-Variant-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Variant A aattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataataca ACAAGCGACGCA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAacaagcgacgcaAGATCGAGACCCGACGC chr2:162060796-Variant-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Variant A aattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataataca GCGACTCTTGAC CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAgcgactcttgacAGATCGAGACCCGACGC chr2:162060796-Variant-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Variant A aattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataataca ACTTGTCGTTGT CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAacttgtcgttgtAGATCGAGACCCGACGC chr2:162060796-Variant-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Variant A aattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataataca AGACCGGCGTTA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgActgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAagaccggcgttaAGATCGAGACCCGACGC chr2:162060796-Variant-A;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative T aattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataataca CGTGACAAGTAA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAcgtgacaagtaaAGATCGAGACCCGACGC chr2:162060796-Alternative-T;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative T aattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataataca CGGCCAATCAAG CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAcggccaatcaagAGATCGAGACCCGACGC chr2:162060796-Alternative-T;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative T aattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataataca GGATCATGCGCA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgTctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAggatcatgcgcaAGATCGAGACCCGACGC chr2:162060796-Alternative-T;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Reference G aattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataataca ATCGCTCTCGCA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAatcgctctcgcaAGATCGAGACCCGACGC chr2:162060796-Reference-G;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Reference G aattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataataca GAGCAATCGTGG CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAgagcaatcgtggAGATCGAGACCCGACGC chr2:162060796-Reference-G;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative C aattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataataca GGTTGGATCGTC CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAggttggatcgtcAGATCGAGACCCGACGC chr2:162060796-Alternative-C;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Alternative C aattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataataca GAATCGGCGAGA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgCctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAgaatcggcgagaAGATCGAGACCCGACGC chr2:162060796-Alternative-C;Patient-30 chr2:162060796-GA Inherited Patient-30 intronic TANK 6.4e-05 4.95e-05 NA NA NA TANK 67329 Reference G aattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataataca AGTTCACGACTA CGACGCGGTCTCTCTCTaattcacaggtgataaaaatttgggtagcatttactttttattctttttgGctgtctgcattttctaattttcccataataagcatggagtcataatacaAGAGGGAGACGGACGTCTCAATAAagttcacgactaAGATCGAGACCCGACGC chr2:162060796-Reference-G;Patient-30 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative A tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CTGTGTGCTTAT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAActgtgtgcttatAGATCGAGACCCGACGC chr2:162170175-Alternative-A;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Variant C tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AAGGACCATAAC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAaaggaccataacAGATCGAGACCCGACGC chr2:162170175-Variant-C;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative G tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AGGCTTGTCGGT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAaggcttgtcggtAGATCGAGACCCGACGC chr2:162170175-Alternative-G;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative G tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatc GTTAGACGGCAG CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAgttagacggcagAGATCGAGACCCGACGC chr2:162170175-Alternative-G;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative G tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CTGGTGTGATCG CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAActggtgtgatcgAGATCGAGACCCGACGC chr2:162170175-Alternative-G;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative G tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AGACCGTGCATC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAagaccgtgcatcAGATCGAGACCCGACGC chr2:162170175-Alternative-G;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative A tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AGATCAGCACCT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAagatcagcacctAGATCGAGACCCGACGC chr2:162170175-Alternative-A;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Variant C tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CTAATCACGTCC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAActaatcacgtccAGATCGAGACCCGACGC chr2:162170175-Variant-C;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Variant C tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatc GTCAGATTGTTC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAgtcagattgttcAGATCGAGACCCGACGC chr2:162170175-Variant-C;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Variant C tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatc GTTCGACCTTAT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAgttcgaccttatAGATCGAGACCCGACGC chr2:162170175-Variant-C;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Reference T tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatc ACTGGTATTCCT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAactggtattcctAGATCGAGACCCGACGC chr2:162170175-Reference-T;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Reference T tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CGGATGAAGTTA CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAcggatgaagttaAGATCGAGACCCGACGC chr2:162170175-Reference-T;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative G tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CAACAGGTACGC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttGattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAcaacaggtacgcAGATCGAGACCCGACGC chr2:162170175-Alternative-G;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Variant C tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatc ACAACGCGAAGG CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttCattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAacaacgcgaaggAGATCGAGACCCGACGC chr2:162170175-Variant-C;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Reference T tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AACACAACTGAG CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAaacacaactgagAGATCGAGACCCGACGC chr2:162170175-Reference-T;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative A tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AAGTCTCCAGTC CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAaagtctccagtcAGATCGAGACCCGACGC chr2:162170175-Alternative-A;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Reference T tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatc GGATGAACTAGA CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAggatgaactagaAGATCGAGACCCGACGC chr2:162170175-Reference-T;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative A tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatc CTCGTTCGAAGG CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAActcgttcgaaggAGATCGAGACCCGACGC chr2:162170175-Alternative-A;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Reference T tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatc GTACTCACAAGT CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttTattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAgtactcacaagtAGATCGAGACCCGACGC chr2:162170175-Reference-T;Patient-43 chr2:162170175-TC DeNovo Patient-43 intronic PSMD14 NA 0.00016 0 2.61 -0.89 PSMD14 5388 Alternative A tgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatc AACCGGATAACA CGACGCGGTCTCTCTCTtgctgggattacaggcatgagccaccacgcccagcctaaatacaagtgttAattctgtattttcttggttttgaaggtacatatatcttcatatatcatcAGAGGGAGACGGACGTCTCAATAAaaccggataacaAGATCGAGACCCGACGC chr2:162170175-Alternative-A;Patient-43 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative T caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GGTCAATGTGTT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAggtcaatgtgttAGATCGAGACCCGACGC chr2:162311580-Alternative-T;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative C caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CTATGGCTAACG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAActatggctaacgAGATCGAGACCCGACGC chr2:162311580-Alternative-C;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Variant A caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CGGTAGCGTGAA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAcggtagcgtgaaAGATCGAGACCCGACGC chr2:162311580-Variant-A;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative T caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CGCTAACGAATA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAcgctaacgaataAGATCGAGACCCGACGC chr2:162311580-Alternative-T;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative T caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GCATAATCGAGA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgcataatcgagaAGATCGAGACCCGACGC chr2:162311580-Alternative-T;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Variant A caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca ACTATCGCAGAT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAactatcgcagatAGATCGAGACCCGACGC chr2:162311580-Variant-A;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative T caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GGTAGCACGAAG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAggtagcacgaagAGATCGAGACCCGACGC chr2:162311580-Alternative-T;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative C caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CTATCACATGCT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAActatcacatgctAGATCGAGACCCGACGC chr2:162311580-Alternative-C;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative C caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CAGCGGTTAAGG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAcagcggttaaggAGATCGAGACCCGACGC chr2:162311580-Alternative-C;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Variant A caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GTTCATCTTCGA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgttcatcttcgaAGATCGAGACCCGACGC chr2:162311580-Variant-A;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative C caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca CGTATACCACCG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAcgtataccaccgAGATCGAGACCCGACGC chr2:162311580-Alternative-C;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Reference G caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca ACTTATTCCTGG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAacttattcctggAGATCGAGACCCGACGC chr2:162311580-Reference-G;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Variant A caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca ACGATGGCTCGT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAacgatggctcgtAGATCGAGACCCGACGC chr2:162311580-Variant-A;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative C caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GGTCAGTTCGCA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtCtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAggtcagttcgcaAGATCGAGACCCGACGC chr2:162311580-Alternative-C;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Reference G caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GTAGCGGTCGAT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgtagcggtcgatAGATCGAGACCCGACGC chr2:162311580-Reference-G;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Variant A caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GTTAGGATGCTA CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtAtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgttaggatgctaAGATCGAGACCCGACGC chr2:162311580-Variant-A;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Reference G caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca ATCGGACTTGCG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAatcggacttgcgAGATCGAGACCCGACGC chr2:162311580-Reference-G;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Alternative T caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GAAGTGACTCGG CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtTtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgaagtgactcggAGATCGAGACCCGACGC chr2:162311580-Alternative-T;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Reference G caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GATGGAACTTCT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgatggaacttctAGATCGAGACCCGACGC chr2:162311580-Reference-G;Patient-31 chr2:162311580-GA DeNovo Patient-31 intergenic NA 0.000513 -0.1 1.42 0 TBR1 38959 Reference G caccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtaca GCATCTATCTGT CGACGCGGTCTCTCTCTcaccactacgcctgactaatttttgtgtgtgtgtgtgtgtgtgtgtgtgtGtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttagtacaAGAGGGAGACGGACGTCTCAATAAgcatctatctgtAGATCGAGACCCGACGC chr2:162311580-Reference-G;Patient-31 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative A ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc AGTTCACGCGAC CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAagttcacgcgacAGATCGAGACCCGACGC chr2:162964601-Alternative-A;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative A ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GATTCACTGCGG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAgattcactgcggAGATCGAGACCCGACGC chr2:162964601-Alternative-A;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Reference T ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GACGGCTGTACT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAgacggctgtactAGATCGAGACCCGACGC chr2:162964601-Reference-T;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative A ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc AGGAATGTACGA CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAaggaatgtacgaAGATCGAGACCCGACGC chr2:162964601-Alternative-A;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Reference T ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ATAGCAGGATAC CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAatagcaggatacAGATCGAGACCCGACGC chr2:162964601-Reference-T;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Variant C ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GATAAGACGGTT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAgataagacggttAGATCGAGACCCGACGC chr2:162964601-Variant-C;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Variant C ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc AATGCGTGGTGG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAaatgcgtggtggAGATCGAGACCCGACGC chr2:162964601-Variant-C;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Reference T ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc CTGTGCTCGGAA CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAActgtgctcggaaAGATCGAGACCCGACGC chr2:162964601-Reference-T;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Variant C ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ACTTAATGCCGT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAacttaatgccgtAGATCGAGACCCGACGC chr2:162964601-Variant-C;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Reference T ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GTGAGGTTCGAG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAgtgaggttcgagAGATCGAGACCCGACGC chr2:162964601-Reference-T;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative A ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ATCTTACGAGGT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAatcttacgaggtAGATCGAGACCCGACGC chr2:162964601-Alternative-A;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative A ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ACGCTACGGACA CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaAtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAacgctacggacaAGATCGAGACCCGACGC chr2:162964601-Alternative-A;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Variant C ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ATTCGTACTACG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAattcgtactacgAGATCGAGACCCGACGC chr2:162964601-Variant-C;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Reference T ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GATAGTTCGCTA CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaTtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAgatagttcgctaAGATCGAGACCCGACGC chr2:162964601-Reference-T;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Variant C ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc CGCACCGTGTTA CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaCtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAcgcaccgtgttaAGATCGAGACCCGACGC chr2:162964601-Variant-C;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative G ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ACTATGTGCCGG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAactatgtgccggAGATCGAGACCCGACGC chr2:162964601-Alternative-G;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative G ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc ATTCGCACTGCG CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAattcgcactgcgAGATCGAGACCCGACGC chr2:162964601-Alternative-G;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative G ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc AATACTAGCCGC CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAaatactagccgcAGATCGAGACCCGACGC chr2:162964601-Alternative-G;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative G ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc CTCACGCAACCT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAActcacgcaacctAGATCGAGACCCGACGC chr2:162964601-Alternative-G;Patient-101 chr2:162964601-TC DeNovo Patient-101 intergenic NA 0.000513 -0.03 2.15 -0.35 DPP4 33548 Alternative G ggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctc GGCTGTTAATGT CGACGCGGTCTCTCTCTggcttacatgaaatgagatgatggctacgtttttaaaatttctgttctaaGtgctaacacagtagatctcaatagacatggcacacataaacaaaagctcAGAGGGAGACGGACGTCTCAATAAggctgttaatgtAGATCGAGACCCGACGC chr2:162964601-Alternative-G;Patient-101 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Reference G gagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AAGGCCAATAGT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaaggccaatagtAGATCGAGACCCGACGC chr2:162998440-Reference-G;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Reference G gagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AATGTCGGTGAA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaatgtcggtgaaAGATCGAGACCCGACGC chr2:162998440-Reference-G;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Reference G gagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt CGACGTACGAAC CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAcgacgtacgaacAGATCGAGACCCGACGC chr2:162998440-Reference-G;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative T gagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt ATACGCTCACTT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAatacgctcacttAGATCGAGACCCGACGC chr2:162998440-Alternative-T;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative T gagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt CAAGCGTACTAA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAcaagcgtactaaAGATCGAGACCCGACGC chr2:162998440-Alternative-T;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Reference G gagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AGGACCATGTTC CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaggaccatgttcAGATCGAGACCCGACGC chr2:162998440-Reference-G;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Variant A gagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GAGTATGTGACA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgagtatgtgacaAGATCGAGACCCGACGC chr2:162998440-Variant-A;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative C gagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GCGAGCTAAGCA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgcgagctaagcaAGATCGAGACCCGACGC chr2:162998440-Alternative-C;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Variant A gagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GCGAGAAGCTGT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgcgagaagctgtAGATCGAGACCCGACGC chr2:162998440-Variant-A;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative T gagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt CGCTTGTCCGAA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAcgcttgtccgaaAGATCGAGACCCGACGC chr2:162998440-Alternative-T;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Reference G gagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GCAGCTATACTT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccGagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgcagctatacttAGATCGAGACCCGACGC chr2:162998440-Reference-G;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Variant A gagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AGACTACCATGT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAagactaccatgtAGATCGAGACCCGACGC chr2:162998440-Variant-A;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative C gagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AACGTCTGATGT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaacgtctgatgtAGATCGAGACCCGACGC chr2:162998440-Alternative-C;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative T gagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AAGTACCTACGG CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaagtacctacggAGATCGAGACCCGACGC chr2:162998440-Alternative-T;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Variant A gagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GATAGCGGTAAG CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgatagcggtaagAGATCGAGACCCGACGC chr2:162998440-Variant-A;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative C gagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt GTTGGTCTGTAA CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAgttggtctgtaaAGATCGAGACCCGACGC chr2:162998440-Alternative-C;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative C gagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt ACGCGGTCAATC CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAacgcggtcaatcAGATCGAGACCCGACGC chr2:162998440-Alternative-C;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative T gagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt CGTGCTGTGTTC CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccTagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAcgtgctgtgttcAGATCGAGACCCGACGC chr2:162998440-Alternative-T;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Variant A gagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt ACCTACGGTAGG CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccAagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAacctacggtaggAGATCGAGACCCGACGC chr2:162998440-Variant-A;Patient-72 chr2:162998440-GA DeNovo Patient-72 intergenic 0.000733 0.00308 0.01 2.72 0.68 GCG 10473 Alternative C gagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctattt AACGCGCTAGGT CGACGCGGTCTCTCTCTgagaagctgacagacataattttgacacatacagtggtaccttctgccccCagctgctccgtgacaatcattttaggatgaatacttcaggacgctatttAGAGGGAGACGGACGTCTCAATAAaacgcgctaggtAGATCGAGACCCGACGC chr2:162998440-Alternative-C;Patient-72 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative T ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt CGATAATGAGCA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAcgataatgagcaAGATCGAGACCCGACGC chr2:163252839-Alternative-T;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Reference G ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GTGACGTGTCGT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgtgacgtgtcgtAGATCGAGACCCGACGC chr2:163252839-Reference-G;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative C ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt AGGCGGATTCGA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAaggcggattcgaAGATCGAGACCCGACGC chr2:163252839-Alternative-C;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Reference G ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt ACGCCAGAATAA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAacgccagaataaAGATCGAGACCCGACGC chr2:163252839-Reference-G;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Reference G ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GTTACCTGCGCT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgttacctgcgctAGATCGAGACCCGACGC chr2:163252839-Reference-G;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative T ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt CGCGTCGTTCAT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAcgcgtcgttcatAGATCGAGACCCGACGC chr2:163252839-Alternative-T;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative C ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt ATTCTCGTAGCT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAattctcgtagctAGATCGAGACCCGACGC chr2:163252839-Alternative-C;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Reference G ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GTGATACAGGAT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgtgatacaggatAGATCGAGACCCGACGC chr2:163252839-Reference-G;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Reference G ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt AGTTCGCACGAC CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtGaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAagttcgcacgacAGATCGAGACCCGACGC chr2:163252839-Reference-G;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative T ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GTATATGGTCGT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgtatatggtcgtAGATCGAGACCCGACGC chr2:163252839-Alternative-T;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative C ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt CTCGTGTCTAAG CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAActcgtgtctaagAGATCGAGACCCGACGC chr2:163252839-Alternative-C;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Variant A ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GTAAGAGTCACT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgtaagagtcactAGATCGAGACCCGACGC chr2:163252839-Variant-A;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Variant A ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GCAGCAGCTAGA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgcagcagctagaAGATCGAGACCCGACGC chr2:163252839-Variant-A;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative C ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt AGACCGGATGCT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAagaccggatgctAGATCGAGACCCGACGC chr2:163252839-Alternative-C;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Variant A ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt CGGAGTATGTGG CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAcggagtatgtggAGATCGAGACCCGACGC chr2:163252839-Variant-A;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative T ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GCGTGTGCATGT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgcgtgtgcatgtAGATCGAGACCCGACGC chr2:163252839-Alternative-T;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Variant A ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt ACGCAAGAATCA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAacgcaagaatcaAGATCGAGACCCGACGC chr2:163252839-Variant-A;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative C ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GACTATAGCCTA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtCaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgactatagcctaAGATCGAGACCCGACGC chr2:163252839-Alternative-C;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Alternative T ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt CGCGGTAACATT CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtTaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAcgcggtaacattAGATCGAGACCCGACGC chr2:163252839-Alternative-T;Patient-19 chr2:163252839-GA DeNovo Patient-19 intronic KCNH7 NA 4.95e-05 -0.04 2.05 0.46 IFIH1 77620 Variant A ttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatatt GAGTACTCGTGA CGACGCGGTCTCTCTCTttaaataggaaactaaacttgaatgaggttaattttttcattattattgtAaagacactgataaccaatgtacagtgtaaataatagctgagagaatattAGAGGGAGACGGACGTCTCAATAAgagtactcgtgaAGATCGAGACCCGACGC chr2:163252839-Variant-A;Patient-19 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Variant G atacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatata CTAGAGGTGACG CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAActagaggtgacgAGATCGAGACCCGACGC chr2:163793692-Variant-G;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative T atacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatata CAGATTCGACGC CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAcagattcgacgcAGATCGAGACCCGACGC chr2:163793692-Alternative-T;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Variant G atacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatata CGGACGCAAGAT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAcggacgcaagatAGATCGAGACCCGACGC chr2:163793692-Variant-G;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Variant G atacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatata GCCTTGACTTCG CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgccttgacttcgAGATCGAGACCCGACGC chr2:163793692-Variant-G;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative T atacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatata GAGTTGCTCTAA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgagttgctctaaAGATCGAGACCCGACGC chr2:163793692-Alternative-T;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Variant G atacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatata AGCTGTGAGCTA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAagctgtgagctaAGATCGAGACCCGACGC chr2:163793692-Variant-G;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Variant G atacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatata AGCTAATCTCGA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattGtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAagctaatctcgaAGATCGAGACCCGACGC chr2:163793692-Variant-G;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative T atacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatata GCATACTGCGTC CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgcatactgcgtcAGATCGAGACCCGACGC chr2:163793692-Alternative-T;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative T atacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatata CGTGGTCAAGCT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAcgtggtcaagctAGATCGAGACCCGACGC chr2:163793692-Alternative-T;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Reference A atacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatata GTCTATTGACAG CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgtctattgacagAGATCGAGACCCGACGC chr2:163793692-Reference-A;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Reference A atacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatata AACGCGTGACGT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAaacgcgtgacgtAGATCGAGACCCGACGC chr2:163793692-Reference-A;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative T atacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatata ACCGTTCCTAAT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattTtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAaccgttcctaatAGATCGAGACCCGACGC chr2:163793692-Alternative-T;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative C atacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatata GTGAACGCATAA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgtgaacgcataaAGATCGAGACCCGACGC chr2:163793692-Alternative-C;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative C atacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatata CATCAAGCGGAC CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAcatcaagcggacAGATCGAGACCCGACGC chr2:163793692-Alternative-C;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Reference A atacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatata ACAACTCCTAAG CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAacaactcctaagAGATCGAGACCCGACGC chr2:163793692-Reference-A;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Reference A atacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatata GAGTGTAACAGT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgagtgtaacagtAGATCGAGACCCGACGC chr2:163793692-Reference-A;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative C atacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatata ACCGTCGTTCAC CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAaccgtcgttcacAGATCGAGACCCGACGC chr2:163793692-Alternative-C;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative C atacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatata GTACGTACGTGA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgtacgtacgtgaAGATCGAGACCCGACGC chr2:163793692-Alternative-C;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Reference A atacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatata AGGTACTAACCT CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattAtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAaggtactaacctAGATCGAGACCCGACGC chr2:163793692-Reference-A;Patient-98 chr2:163793692-AG DeNovo Patient-98 intergenic 0.000519 0.134221315 -0.11 1.34 0 KCNH7 98434 Alternative C atacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatata GAATGACCGATA CGACGCGGTCTCTCTCTatacatattatatattatatattgtatatataatatacatattatatattCtatattgtatatataatatacatattatatattatatattgtatatataAGAGGGAGACGGACGTCTCAATAAgaatgaccgataAGATCGAGACCCGACGC chr2:163793692-Alternative-C;Patient-98 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative T ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacat ATCGTCTTGTCA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAatcgtcttgtcaAGATCGAGACCCGACGC chr2:166031974-Alternative-T;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative T ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CTAGTCATTGGT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAActagtcattggtAGATCGAGACCCGACGC chr2:166031974-Alternative-T;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Reference G ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AGACGATACGGC CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAagacgatacggcAGATCGAGACCCGACGC chr2:166031974-Reference-G;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Reference G ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacat ACGCCTAGGTAA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAacgcctaggtaaAGATCGAGACCCGACGC chr2:166031974-Reference-G;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Reference G ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacat ACGGCTATACCA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAacggctataccaAGATCGAGACCCGACGC chr2:166031974-Reference-G;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative T ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AACGTGCTAACA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAaacgtgctaacaAGATCGAGACCCGACGC chr2:166031974-Alternative-T;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative T ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CGATCGCATATT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAcgatcgcatattAGATCGAGACCCGACGC chr2:166031974-Alternative-T;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative A ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CTCTAGTCTAGT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAActctagtctagtAGATCGAGACCCGACGC chr2:166031974-Alternative-A;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative T ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CTTAATCGACGA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgTatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAActtaatcgacgaAGATCGAGACCCGACGC chr2:166031974-Alternative-T;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative A ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacat GACGTAGAAGTT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAgacgtagaagttAGATCGAGACCCGACGC chr2:166031974-Alternative-A;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Reference G ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CTGCGGCTTCTA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAActgcggcttctaAGATCGAGACCCGACGC chr2:166031974-Reference-G;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Reference G ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AGTACGACGATA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgGatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAagtacgacgataAGATCGAGACCCGACGC chr2:166031974-Reference-G;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative A ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CTGTGTCGTCGT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAActgtgtcgtcgtAGATCGAGACCCGACGC chr2:166031974-Alternative-A;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative A ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AGTGCGCTACCT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAagtgcgctacctAGATCGAGACCCGACGC chr2:166031974-Alternative-A;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Alternative A ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AAGTACGCTCTT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgAatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAaagtacgctcttAGATCGAGACCCGACGC chr2:166031974-Alternative-A;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Variant C ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacat CGGAAGCTCTGA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAcggaagctctgaAGATCGAGACCCGACGC chr2:166031974-Variant-C;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Variant C ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacat GATCCATAGTGT CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAgatccatagtgtAGATCGAGACCCGACGC chr2:166031974-Variant-C;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Variant C ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AGTGTCGACAAC CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAagtgtcgacaacAGATCGAGACCCGACGC chr2:166031974-Variant-C;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Variant C ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacat AACGCGCTGTGA CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAaacgcgctgtgaAGATCGAGACCCGACGC chr2:166031974-Variant-C;Patient-54 chr2:166031974-GC DeNovo Patient-54 intronic SCN3A NA 4.95e-05 -0.04 2.11 1.27 SCN3A 28602 Variant C ttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacat GGAGTAATGCGG CGACGCGGTCTCTCTCTttttagcattaggaaagcacagtcataaccactaatttaaatcatgtatgCatggagaaaatttgaaagttctttctttttggtcttccaattttgacatAGAGGGAGACGGACGTCTCAATAAggagtaatgcggAGATCGAGACCCGACGC chr2:166031974-Variant-C;Patient-54 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative C ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt AACGCTAGATCA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAaacgctagatcaAGATCGAGACCCGACGC chr2:166089599-Alternative-C;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Variant A ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt ACTGTGCGATGG CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAactgtgcgatggAGATCGAGACCCGACGC chr2:166089599-Variant-A;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Variant A ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt AGTGTAATACGG CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAagtgtaatacggAGATCGAGACCCGACGC chr2:166089599-Variant-A;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative C ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CAGGAGATTCAA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAcaggagattcaaAGATCGAGACCCGACGC chr2:166089599-Alternative-C;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative C ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GGTCTTCGTGCT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAggtcttcgtgctAGATCGAGACCCGACGC chr2:166089599-Alternative-C;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative C ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CAGTCCGACTTC CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAcagtccgacttcAGATCGAGACCCGACGC chr2:166089599-Alternative-C;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Variant A ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CATTGCCGATTA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAcattgccgattaAGATCGAGACCCGACGC chr2:166089599-Variant-A;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Variant A ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GCATCCAACAGT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgcatccaacagtAGATCGAGACCCGACGC chr2:166089599-Variant-A;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative T ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt ACGTGCAGATAA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAacgtgcagataaAGATCGAGACCCGACGC chr2:166089599-Alternative-T;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Variant A ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CGATGTTCACTT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagAaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAcgatgttcacttAGATCGAGACCCGACGC chr2:166089599-Variant-A;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative C ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt AGTTCCGCCGAA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagCaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAagttccgccgaaAGATCGAGACCCGACGC chr2:166089599-Alternative-C;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative T ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CTCGCGCGTATA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAActcgcgcgtataAGATCGAGACCCGACGC chr2:166089599-Alternative-T;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Reference G ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GGAGTCGAACGT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAggagtcgaacgtAGATCGAGACCCGACGC chr2:166089599-Reference-G;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Reference G ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GACCTAACATGA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgacctaacatgaAGATCGAGACCCGACGC chr2:166089599-Reference-G;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative T ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GTTCATGTCGAT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgttcatgtcgatAGATCGAGACCCGACGC chr2:166089599-Alternative-T;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Reference G ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt CTTATGCACCAT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAActtatgcaccatAGATCGAGACCCGACGC chr2:166089599-Reference-G;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Reference G ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GCGTATCGGAGT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgcgtatcggagtAGATCGAGACCCGACGC chr2:166089599-Reference-G;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Reference G ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GAATATGCGTAC CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagGaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgaatatgcgtacAGATCGAGACCCGACGC chr2:166089599-Reference-G;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative T ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt GCGGATAGACCT CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAgcggatagacctAGATCGAGACCCGACGC chr2:166089599-Alternative-T;Patient-26 chr2:166089599-GA DeNovo Patient-26 intergenic NA 0.000513 -0.16 0.94 -3.03 SCN2A 6312 Alternative T ctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggt ACAACTGTTCGA CGACGCGGTCTCTCTCTctttgatgtaccaatgactccagcaggctgggaagatattacttccccagTaaaactctgccccatttctgtttatgcaagtagctgtccttgctgaggtAGAGGGAGACGGACGTCTCAATAAacaactgttcgaAGATCGAGACCCGACGC chr2:166089599-Alternative-T;Patient-26 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Variant A aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GTAACTCAAGCT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgtaactcaagctAGATCGAGACCCGACGC chr2:166181690-Variant-A;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative T aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GCGTACAATGAA CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgcgtacaatgaaAGATCGAGACCCGACGC chr2:166181690-Alternative-T;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative T aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CATTGCGCGCAT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAcattgcgcgcatAGATCGAGACCCGACGC chr2:166181690-Alternative-T;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative T aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcct ACCTAGCTGAAC CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAacctagctgaacAGATCGAGACCCGACGC chr2:166181690-Alternative-T;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative T aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcct ACGATCTCGTCC CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAacgatctcgtccAGATCGAGACCCGACGC chr2:166181690-Alternative-T;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative T aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CTCTAATCCGCG CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctTtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAActctaatccgcgAGATCGAGACCCGACGC chr2:166181690-Alternative-T;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Reference G aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GAGTCACGAACG CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgagtcacgaacgAGATCGAGACCCGACGC chr2:166181690-Reference-G;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Reference G aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcct ACAATGCGTAAC CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAacaatgcgtaacAGATCGAGACCCGACGC chr2:166181690-Reference-G;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Reference G aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CGTTCGCACTTA CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAcgttcgcacttaAGATCGAGACCCGACGC chr2:166181690-Reference-G;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Reference G aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CGCACGCTATAC CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAcgcacgctatacAGATCGAGACCCGACGC chr2:166181690-Reference-G;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Reference G aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GCCTTCGTATCG CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctGtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgccttcgtatcgAGATCGAGACCCGACGC chr2:166181690-Reference-G;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative C aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GGCAATCGGAGT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAggcaatcggagtAGATCGAGACCCGACGC chr2:166181690-Alternative-C;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Variant A aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcct AGGTTCGTTGAT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAaggttcgttgatAGATCGAGACCCGACGC chr2:166181690-Variant-A;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Variant A aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CGCGTGGTACAT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAcgcgtggtacatAGATCGAGACCCGACGC chr2:166181690-Variant-A;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Variant A aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcct AATACGTCTGGT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAaatacgtctggtAGATCGAGACCCGACGC chr2:166181690-Variant-A;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Variant A aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GCGACGGTGAAT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctAtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgcgacggtgaatAGATCGAGACCCGACGC chr2:166181690-Variant-A;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative C aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcct CAGTACAAGACA CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAcagtacaagacaAGATCGAGACCCGACGC chr2:166181690-Alternative-C;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative C aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcct AGTCCGGAATCG CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAagtccggaatcgAGATCGAGACCCGACGC chr2:166181690-Alternative-C;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative C aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcct GTGCTTACCTAT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAgtgcttacctatAGATCGAGACCCGACGC chr2:166181690-Alternative-C;Patient-30 chr2:166181690-GA Inherited Patient-30 intronic SCN2A NA 4.95e-05 NA NA NA SCN2A 85777 Alternative C aaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcct AGCTCTATCTGT CGACGCGGTCTCTCTCTaaaagcaaatctacaattaccatgcaggaatacagacagactgtcagtctCtcagaaattatttagcatttatcaataattatcataaatctcctgtcctAGAGGGAGACGGACGTCTCAATAAagctctatctgtAGATCGAGACCCGACGC chr2:166181690-Alternative-C;Patient-30 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative C ctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt GTATCCGAACGG CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAgtatccgaacggAGATCGAGACCCGACGC chr2:1686212-Alternative-C;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative C ctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CGGAAGACATAT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAcggaagacatatAGATCGAGACCCGACGC chr2:1686212-Alternative-C;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative C ctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt GTCATGTGACTA CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAgtcatgtgactaAGATCGAGACCCGACGC chr2:1686212-Alternative-C;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Variant A ctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt ACGCAACCGAGA CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAacgcaaccgagaAGATCGAGACCCGACGC chr2:1686212-Variant-A;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative C ctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CAATAGTGGTAC CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAcaatagtggtacAGATCGAGACCCGACGC chr2:1686212-Alternative-C;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Reference G ctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CTTACATGGTAC CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAActtacatggtacAGATCGAGACCCGACGC chr2:1686212-Reference-G;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Reference G ctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CTATGACTCCGC CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAActatgactccgcAGATCGAGACCCGACGC chr2:1686212-Reference-G;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Reference G ctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CTATACTACGGT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAActatactacggtAGATCGAGACCCGACGC chr2:1686212-Reference-G;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative C ctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt AGTACGCACGCT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctCgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAagtacgcacgctAGATCGAGACCCGACGC chr2:1686212-Alternative-C;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Reference G ctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt ATTCGCTGCGCT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAattcgctgcgctAGATCGAGACCCGACGC chr2:1686212-Reference-G;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Variant A ctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt GCAGGATCAAGA CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAgcaggatcaagaAGATCGAGACCCGACGC chr2:1686212-Variant-A;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Variant A ctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CTAATCTCGCAT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAActaatctcgcatAGATCGAGACCCGACGC chr2:1686212-Variant-A;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Variant A ctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt ATAGCAGCGGAC CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAatagcagcggacAGATCGAGACCCGACGC chr2:1686212-Variant-A;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Variant A ctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CTGGTTAGTGAA CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctAgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAActggttagtgaaAGATCGAGACCCGACGC chr2:1686212-Variant-A;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative T ctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt GGTTCTAACCGG CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAggttctaaccggAGATCGAGACCCGACGC chr2:1686212-Alternative-T;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative T ctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt AAGACTGAAGCT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAaagactgaagctAGATCGAGACCCGACGC chr2:1686212-Alternative-T;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative T ctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt AGCGGCGTTAAC CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAagcggcgttaacAGATCGAGACCCGACGC chr2:1686212-Alternative-T;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative T ctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CAAGAGTAGGTT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAcaagagtaggttAGATCGAGACCCGACGC chr2:1686212-Alternative-T;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Alternative T ctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt GGTTCCGGATGA CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctTgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAggttccggatgaAGATCGAGACCCGACGC chr2:1686212-Alternative-T;Patient-91 chr2:1686212-GA Inherited Patient-91 intronic PXDN 6.4e-05 9.9e-05 -0.07 1.66 1.43 PXDN 62078 Reference G ctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagttt CGGATAGACAGT CGACGCGGTCTCTCTCTctccactttatttcactgaagagataaaacaaatcacataagaccactctGgagttaggcttgtctcttggcattttctgtttctttctaggtctagtttAGAGGGAGACGGACGTCTCAATAAcggatagacagtAGATCGAGACCCGACGC chr2:1686212-Reference-G;Patient-91 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Reference T tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt ACGAATTCTGAG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAacgaattctgagAGATCGAGACCCGACGC chr2:169214263-Reference-T;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative C tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CGACGGTTAAGG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcgacggttaaggAGATCGAGACCCGACGC chr2:169214263-Alternative-C;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Reference T tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt AGCAATCGCAGT CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAagcaatcgcagtAGATCGAGACCCGACGC chr2:169214263-Reference-T;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Reference T tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CACAATCGACGC CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcacaatcgacgcAGATCGAGACCCGACGC chr2:169214263-Reference-T;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Variant G tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GGATGATCGCGA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAggatgatcgcgaAGATCGAGACCCGACGC chr2:169214263-Variant-G;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Reference T tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CGGCAAGTGAGA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcggcaagtgagaAGATCGAGACCCGACGC chr2:169214263-Reference-T;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Variant G tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt AGGTGTAGTCGG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAaggtgtagtcggAGATCGAGACCCGACGC chr2:169214263-Variant-G;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Variant G tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CTCGGTGTAATA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAActcggtgtaataAGATCGAGACCCGACGC chr2:169214263-Variant-G;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Variant G tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CGTAGTAGGACG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcgtagtaggacgAGATCGAGACCCGACGC chr2:169214263-Variant-G;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Reference T tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GTCGAAGCTCGT CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatTgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgtcgaagctcgtAGATCGAGACCCGACGC chr2:169214263-Reference-T;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative A tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GCCGGATGGTAT CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgccggatggtatAGATCGAGACCCGACGC chr2:169214263-Alternative-A;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative A tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GCCGGTAAGAAG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgccggtaagaagAGATCGAGACCCGACGC chr2:169214263-Alternative-A;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Variant G tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CAGGCTTATCGG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatGgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcaggcttatcggAGATCGAGACCCGACGC chr2:169214263-Variant-G;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative C tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CAGGCTATAAGA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcaggctataagaAGATCGAGACCCGACGC chr2:169214263-Alternative-C;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative C tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CGATGCTTACGG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcgatgcttacggAGATCGAGACCCGACGC chr2:169214263-Alternative-C;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative A tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GATCCTACGTAA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgatcctacgtaaAGATCGAGACCCGACGC chr2:169214263-Alternative-A;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative C tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt CACGACTAACCA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAcacgactaaccaAGATCGAGACCCGACGC chr2:169214263-Alternative-C;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative A tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GATGAGATGTCG CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgatgagatgtcgAGATCGAGACCCGACGC chr2:169214263-Alternative-A;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative A tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GAGTCATTCCAA CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatAgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgagtcattccaaAGATCGAGACCCGACGC chr2:169214263-Alternative-A;Patient-79 chr2:169214263-TG DeNovo Patient-79 intergenic 0.000159 0.000513 0.33 7.53 -0.66 CERS6 98495 Alternative C tgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagt GACCAACGTCGT CGACGCGGTCTCTCTCTtgcagaactgggtgaaaaatgagaatcaaggctcagaagtgaccctttatCgaggcattaaccaaaaaaatttaaaaaatttttttagtagaaatgaagtAGAGGGAGACGGACGTCTCAATAAgaccaacgtcgtAGATCGAGACCCGACGC chr2:169214263-Alternative-C;Patient-79 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative C cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GTCAGTAACAAC CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgtcagtaacaacAGATCGAGACCCGACGC chr2:169256326-Alternative-C;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative C cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CGAGTACGTAAT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcgagtacgtaatAGATCGAGACCCGACGC chr2:169256326-Alternative-C;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative C cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GGCCGAAGTGAA CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAggccgaagtgaaAGATCGAGACCCGACGC chr2:169256326-Alternative-C;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative A cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GTAATTCTGACG CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgtaattctgacgAGATCGAGACCCGACGC chr2:169256326-Alternative-A;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative A cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CGAGTCGCATGT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcgagtcgcatgtAGATCGAGACCCGACGC chr2:169256326-Alternative-A;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative A cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GGCTCCAACAAG CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAggctccaacaagAGATCGAGACCCGACGC chr2:169256326-Alternative-A;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Variant T cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CGGTGGACAGTT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcggtggacagttAGATCGAGACCCGACGC chr2:169256326-Variant-T;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative A cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg AGGACGTTAGTT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAaggacgttagttAGATCGAGACCCGACGC chr2:169256326-Alternative-A;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative A cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CGAATACGCGAG CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaAgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcgaatacgcgagAGATCGAGACCCGACGC chr2:169256326-Alternative-A;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative C cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GATATGTGCGAA CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgatatgtgcgaaAGATCGAGACCCGACGC chr2:169256326-Alternative-C;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Reference G cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GATGTGAGAATC CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgatgtgagaatcAGATCGAGACCCGACGC chr2:169256326-Reference-G;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Reference G cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg AGTTACTCGTTC CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAagttactcgttcAGATCGAGACCCGACGC chr2:169256326-Reference-G;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Variant T cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CTCTGCTAGATA CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAActctgctagataAGATCGAGACCCGACGC chr2:169256326-Variant-T;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Variant T cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GCGCAAGCTAAC CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgcgcaagctaacAGATCGAGACCCGACGC chr2:169256326-Variant-T;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Alternative C cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CTTGTCAGATGT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaCgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAActtgtcagatgtAGATCGAGACCCGACGC chr2:169256326-Alternative-C;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Variant T cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CTCGCTGGTAGA CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAActcgctggtagaAGATCGAGACCCGACGC chr2:169256326-Variant-T;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Reference G cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CGCACGGACTAA CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcgcacggactaaAGATCGAGACCCGACGC chr2:169256326-Reference-G;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Variant T cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg GCGATGTCGAGT CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaTgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAgcgatgtcgagtAGATCGAGACCCGACGC chr2:169256326-Variant-T;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Reference G cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg CATAGGTGGACG CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAcataggtggacgAGATCGAGACCCGACGC chr2:169256326-Reference-G;Patient-24 chr2:169256326-GT Inherited Patient-24 intergenic NA 0.000513 0.31 7.32 0.23 CERS6 56432 Reference G cttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctg AGCTTCGTCGAG CGACGCGGTCTCTCTCTcttgccactctatgctttttaagtagggcgtgtagcccatttacattcaaGgtcaatatttatatgtgaagatttgatcctgtcattgtgttgttagctgAGAGGGAGACGGACGTCTCAATAAagcttcgtcgagAGATCGAGACCCGACGC chr2:169256326-Reference-G;Patient-24 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Variant T catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatag ACTTGCTCTCTT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAacttgctctcttAGATCGAGACCCGACGC chr2:169667957-Variant-T;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative A catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatag CTCTCTGACACG CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAActctctgacacgAGATCGAGACCCGACGC chr2:169667957-Alternative-A;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative A catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatag ACGCAATGTTCA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAacgcaatgttcaAGATCGAGACCCGACGC chr2:169667957-Alternative-A;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Variant T catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTAACGGTAGAT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgtaacggtagatAGATCGAGACCCGACGC chr2:169667957-Variant-T;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative A catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTCAAGCATGTT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgtcaagcatgttAGATCGAGACCCGACGC chr2:169667957-Alternative-A;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative A catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatag CTATCCATACCA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAActatccataccaAGATCGAGACCCGACGC chr2:169667957-Alternative-A;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative A catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatag ACAATAGCACGA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaAgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAacaatagcacgaAGATCGAGACCCGACGC chr2:169667957-Alternative-A;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative G catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTAGCGTACGAC CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgtagcgtacgacAGATCGAGACCCGACGC chr2:169667957-Alternative-G;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Reference C catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatag CACGTATAGGTT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAcacgtataggttAGATCGAGACCCGACGC chr2:169667957-Reference-C;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Reference C catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTTCGTGTCTTA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgttcgtgtcttaAGATCGAGACCCGACGC chr2:169667957-Reference-C;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Variant T catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTTCGACAGTAT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgttcgacagtatAGATCGAGACCCGACGC chr2:169667957-Variant-T;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative G catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatag ACGTGAAGCGTC CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAacgtgaagcgtcAGATCGAGACCCGACGC chr2:169667957-Alternative-G;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative G catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatag ATCGGAGTTCAA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAatcggagttcaaAGATCGAGACCCGACGC chr2:169667957-Alternative-G;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Variant T catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatag ACCTGAAGCGAA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAacctgaagcgaaAGATCGAGACCCGACGC chr2:169667957-Variant-T;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative G catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatag CTTGGATGGTTA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAActtggatggttaAGATCGAGACCCGACGC chr2:169667957-Alternative-G;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Reference C catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTTCCACGCCAA CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgttccacgccaaAGATCGAGACCCGACGC chr2:169667957-Reference-C;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Reference C catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatag GAATTACGCGCG CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgaattacgcgcgAGATCGAGACCCGACGC chr2:169667957-Reference-C;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Alternative G catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatag GTTGTGACGTAT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaGgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgttgtgacgtatAGATCGAGACCCGACGC chr2:169667957-Alternative-G;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Variant T catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatag GGACAGTTGACG CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaTgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAggacagttgacgAGATCGAGACCCGACGC chr2:169667957-Variant-T;Patient-20 chr2:169667957-CT DeNovo Patient-20 intronic NOSTRIN 9.6e-05 4.95e-05 -0.33 0.3 -9.18 NOSTRIN 24907 Reference C catctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatag GCATTGTTGCTT CGACGCGGTCTCTCTCTcatctttattttaagaactcatccaaaaggtataaatgcctgtagctgcaCgatcctttataatgacagtcatagttatagtagttttctgaatttatagAGAGGGAGACGGACGTCTCAATAAgcattgttgcttAGATCGAGACCCGACGC chr2:169667957-Reference-C;Patient-20 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Variant C cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GTCGAATATGCT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgtcgaatatgctAGATCGAGACCCGACGC chr2:170242495-Variant-C;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Variant C cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GTCGTAGACGTC CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgtcgtagacgtcAGATCGAGACCCGACGC chr2:170242495-Variant-C;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Variant C cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg AGACTGACAAGT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAagactgacaagtAGATCGAGACCCGACGC chr2:170242495-Variant-C;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Variant C cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CGTGGAATTCGC CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcgtggaattcgcAGATCGAGACCCGACGC chr2:170242495-Variant-C;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Reference A cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GTAGAGGTTGAT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgtagaggttgatAGATCGAGACCCGACGC chr2:170242495-Reference-A;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Reference A cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg AGGAACGTTAGA CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAaggaacgttagaAGATCGAGACCCGACGC chr2:170242495-Reference-A;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Reference A cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CAATGAGTGAAC CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcaatgagtgaacAGATCGAGACCCGACGC chr2:170242495-Reference-A;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Variant C cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg ACGTTGCGACAC CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcCcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAacgttgcgacacAGATCGAGACCCGACGC chr2:170242495-Variant-C;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative G cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CGATATGCTGTT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcgatatgctgttAGATCGAGACCCGACGC chr2:170242495-Alternative-G;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative G cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GCGTTAAGTACA CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgcgttaagtacaAGATCGAGACCCGACGC chr2:170242495-Alternative-G;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative G cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CGAATTAAGACG CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcgaattaagacgAGATCGAGACCCGACGC chr2:170242495-Alternative-G;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Reference A cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GAGCATGAAGTT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgagcatgaagttAGATCGAGACCCGACGC chr2:170242495-Reference-A;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative G cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GATCGATGCGGT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgatcgatgcggtAGATCGAGACCCGACGC chr2:170242495-Alternative-G;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative T cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GTGTCTAATACG CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgtgtctaatacgAGATCGAGACCCGACGC chr2:170242495-Alternative-T;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative G cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CATAACGGCGAG CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcGcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcataacggcgagAGATCGAGACCCGACGC chr2:170242495-Alternative-G;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative T cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CGTCGATAAGAA CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAcgtcgataagaaAGATCGAGACCCGACGC chr2:170242495-Alternative-T;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative T cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GCATGCATGCTA CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAgcatgcatgctaAGATCGAGACCCGACGC chr2:170242495-Alternative-T;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative T cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg ACAGGATCCATT CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAacaggatccattAGATCGAGACCCGACGC chr2:170242495-Alternative-T;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Alternative T cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg CTCGTACACCGA CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcTcttgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAActcgtacaccgaAGATCGAGACCCGACGC chr2:170242495-Alternative-T;Patient-81 chr2:170242495-AC DeNovo Patient-81 intergenic 0.000233 0.00103 -0.03 2.23 0.16 LRP2 23372 Reference A cacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccg GGTATCGAACGG CGACGCGGTCTCTCTCTcacacacattaaaaaaaaaaaaaaaaaagaaaggccaaggcgggcggatcActtgaggctaggagtttcagaccagcctggccaacatggcaaaaccccgAGAGGGAGACGGACGTCTCAATAAggtatcgaacggAGATCGAGACCCGACGC chr2:170242495-Reference-A;Patient-81 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Variant G tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GGCTGACGGTAA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAggctgacggtaaAGATCGAGACCCGACGC chr2:170250550-Variant-G;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Reference T tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CGCAGTTACACT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAcgcagttacactAGATCGAGACCCGACGC chr2:170250550-Reference-T;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative A tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GGTAACAGTACC CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAggtaacagtaccAGATCGAGACCCGACGC chr2:170250550-Alternative-A;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative A tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CAACTCGGTCGA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAcaactcggtcgaAGATCGAGACCCGACGC chr2:170250550-Alternative-A;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Variant G tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat AACGGTCAGGCA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAaacggtcaggcaAGATCGAGACCCGACGC chr2:170250550-Variant-G;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Variant G tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GATGAGTCGATA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAgatgagtcgataAGATCGAGACCCGACGC chr2:170250550-Variant-G;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Reference T tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CGCTTGTTCACG CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAcgcttgttcacgAGATCGAGACCCGACGC chr2:170250550-Reference-T;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative C tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GCCGATCTGTCA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAgccgatctgtcaAGATCGAGACCCGACGC chr2:170250550-Alternative-C;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative C tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat AATCTTGTCTGG CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAaatcttgtctggAGATCGAGACCCGACGC chr2:170250550-Alternative-C;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative C tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CTATGTGAAGCT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAActatgtgaagctAGATCGAGACCCGACGC chr2:170250550-Alternative-C;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative C tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GGTCGCCTAACA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAggtcgcctaacaAGATCGAGACCCGACGC chr2:170250550-Alternative-C;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative C tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CGACCGGTTCAT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaCgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAcgaccggttcatAGATCGAGACCCGACGC chr2:170250550-Alternative-C;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative A tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat ACGTATACGTGT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAacgtatacgtgtAGATCGAGACCCGACGC chr2:170250550-Alternative-A;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Reference T tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GATGAGTCAAGA CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAgatgagtcaagaAGATCGAGACCCGACGC chr2:170250550-Reference-T;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative A tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CTACACCGACCT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAActacaccgacctAGATCGAGACCCGACGC chr2:170250550-Alternative-A;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Reference T tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat ACGTCTGAACAT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAacgtctgaacatAGATCGAGACCCGACGC chr2:170250550-Reference-T;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Reference T tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CTTGAATCCTGG CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaTgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAActtgaatcctggAGATCGAGACCCGACGC chr2:170250550-Reference-T;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Variant G tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GGCTCTGAAGTC CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAggctctgaagtcAGATCGAGACCCGACGC chr2:170250550-Variant-G;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Alternative A tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat GCCGTACATGCT CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaAgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAgccgtacatgctAGATCGAGACCCGACGC chr2:170250550-Alternative-A;Patient-54 chr2:170250550-TG Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.17 0.85 -0.77 LRP2 31427 Variant G tggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgat CAGATGCCGAAC CGACGCGGTCTCTCTCTtggtgtgctgcacccattaactcgtcatttacattaggtatatctcctaaGgctatccctccctcctcccccaactccacaacaggccctggtgtgtgatAGAGGGAGACGGACGTCTCAATAAcagatgccgaacAGATCGAGACCCGACGC chr2:170250550-Variant-G;Patient-54 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Reference G tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CAGATAACGTGA CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAcagataacgtgaAGATCGAGACCCGACGC chr2:170266786-Reference-G;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Reference G tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GGTTGGTCAACA CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAggttggtcaacaAGATCGAGACCCGACGC chr2:170266786-Reference-G;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Reference G tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GTAGTCTATCAG CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAgtagtctatcagAGATCGAGACCCGACGC chr2:170266786-Reference-G;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Reference G tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca ACGACGATCGTC CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAacgacgatcgtcAGATCGAGACCCGACGC chr2:170266786-Reference-G;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Reference G tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CTGAAGTGCGAG CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaGgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAActgaagtgcgagAGATCGAGACCCGACGC chr2:170266786-Reference-G;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative C tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CTCGCTTACGCA CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAActcgcttacgcaAGATCGAGACCCGACGC chr2:170266786-Alternative-C;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative C tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CGTGGAGTCGTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAcgtggagtcgttAGATCGAGACCCGACGC chr2:170266786-Alternative-C;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative C tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GAGTATTCAACC CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAgagtattcaaccAGATCGAGACCCGACGC chr2:170266786-Alternative-C;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative C tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GTAGTAATCTGG CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAgtagtaatctggAGATCGAGACCCGACGC chr2:170266786-Alternative-C;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative C tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca AAGTTGACGTCT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaCgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAaagttgacgtctAGATCGAGACCCGACGC chr2:170266786-Alternative-C;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Variant A tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca ACAGGATAACAC CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAacaggataacacAGATCGAGACCCGACGC chr2:170266786-Variant-A;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Variant A tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca ACGTGCAGACGA CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAacgtgcagacgaAGATCGAGACCCGACGC chr2:170266786-Variant-A;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Variant A tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CGGCTAAGCGTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAcggctaagcgttAGATCGAGACCCGACGC chr2:170266786-Variant-A;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Variant A tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca ACAGGATACCTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAacaggataccttAGATCGAGACCCGACGC chr2:170266786-Variant-A;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Variant A tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GTCGATGCGCTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaAgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAgtcgatgcgcttAGATCGAGACCCGACGC chr2:170266786-Variant-A;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative T tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CGCGCGAATCTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAcgcgcgaatcttAGATCGAGACCCGACGC chr2:170266786-Alternative-T;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative T tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca CTACGAGTCATT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAActacgagtcattAGATCGAGACCCGACGC chr2:170266786-Alternative-T;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative T tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GGTTCAATCCGC CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAggttcaatccgcAGATCGAGACCCGACGC chr2:170266786-Alternative-T;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative T tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca GGTGTTGCTCGA CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAggtgttgctcgaAGATCGAGACCCGACGC chr2:170266786-Alternative-T;Patient-30 chr2:170266786-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA LRP2 47663 Alternative T tgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagcca AATGGCTGTGTT CGACGCGGTCTCTCTCTtgcaactctggttcttttgtgctcctgttgtcctctggttcagtgacagaTgggtgggctgagggagtcgctgagggatcccacagtagttttgcagccaAGAGGGAGACGGACGTCTCAATAAaatggctgtgttAGATCGAGACCCGACGC chr2:170266786-Alternative-T;Patient-30 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative T tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaac CTACGTGCTAAT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAActacgtgctaatAGATCGAGACCCGACGC chr2:170497853-Alternative-T;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Variant C tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaac CTCGTACATACG CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAActcgtacatacgAGATCGAGACCCGACGC chr2:170497853-Variant-C;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative G tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaac GGCCAATCCTAC CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAggccaatcctacAGATCGAGACCCGACGC chr2:170497853-Alternative-G;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative G tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaac AATATGCTCGAC CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAaatatgctcgacAGATCGAGACCCGACGC chr2:170497853-Alternative-G;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative G tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaac CACTTCCTTACA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAcacttccttacaAGATCGAGACCCGACGC chr2:170497853-Alternative-G;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative G tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaac GGACATAGAGCA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAggacatagagcaAGATCGAGACCCGACGC chr2:170497853-Alternative-G;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative T tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaac CGTCTGATGACC CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAcgtctgatgaccAGATCGAGACCCGACGC chr2:170497853-Alternative-T;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative T tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaac AAGGCGGCAATC CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAaaggcggcaatcAGATCGAGACCCGACGC chr2:170497853-Alternative-T;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Variant C tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaac CGGCTGTCTAAG CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAcggctgtctaagAGATCGAGACCCGACGC chr2:170497853-Variant-C;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative G tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaac AGGACGCTGAAT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaGacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAaggacgctgaatAGATCGAGACCCGACGC chr2:170497853-Alternative-G;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Reference A tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaac GCCTTCGGATGA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAgccttcggatgaAGATCGAGACCCGACGC chr2:170497853-Reference-A;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative T tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaac ACTGTTCGTCAT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAactgttcgtcatAGATCGAGACCCGACGC chr2:170497853-Alternative-T;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Alternative T tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaac ACCACAGCATCA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaTacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAaccacagcatcaAGATCGAGACCCGACGC chr2:170497853-Alternative-T;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Variant C tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaac CTATCGTATTCG CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAActatcgtattcgAGATCGAGACCCGACGC chr2:170497853-Variant-C;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Variant C tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaac ACGATTAAGGCA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAacgattaaggcaAGATCGAGACCCGACGC chr2:170497853-Variant-C;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Reference A tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaac CTCATCTATCGT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAActcatctatcgtAGATCGAGACCCGACGC chr2:170497853-Reference-A;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Reference A tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaac GGATAGTGGATT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAggatagtggattAGATCGAGACCCGACGC chr2:170497853-Reference-A;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Reference A tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaac GTTAACCTTGCT CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAgttaaccttgctAGATCGAGACCCGACGC chr2:170497853-Reference-A;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Reference A tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaac CAGTAGCGGCAA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaAacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAcagtagcggcaaAGATCGAGACCCGACGC chr2:170497853-Reference-A;Patient-22 chr2:170497853-AC Inherited Patient-22 intergenic 0.000127 0.000513 1.9 18.28 4.57 PPIG 57002 Variant C tagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaac AGCAATCCGATA CGACGCGGTCTCTCTCTtagtctagtaattgttgaacttttctgcaaactgcattttacaaaattgaCacttggaagctgtattaacttttatagttaaacattgtattaaataaacAGAGGGAGACGGACGTCTCAATAAagcaatccgataAGATCGAGACCCGACGC chr2:170497853-Variant-C;Patient-22 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative G tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca CTAGAAGCGATT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAActagaagcgattAGATCGAGACCCGACGC chr2:172543309-Alternative-G;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative G tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca ACGTTCGGCAGT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAacgttcggcagtAGATCGAGACCCGACGC chr2:172543309-Alternative-G;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative T tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GGTGGCTATCCA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAggtggctatccaAGATCGAGACCCGACGC chr2:172543309-Alternative-T;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative T tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GCAGTCGTTAAT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgcagtcgttaatAGATCGAGACCCGACGC chr2:172543309-Alternative-T;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative G tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca CGCACTTCGGAA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAcgcacttcggaaAGATCGAGACCCGACGC chr2:172543309-Alternative-G;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Reference A tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GACTACTACGGC CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgactactacggcAGATCGAGACCCGACGC chr2:172543309-Reference-A;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative T tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GCACGCGTTAAT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgcacgcgttaatAGATCGAGACCCGACGC chr2:172543309-Alternative-T;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative G tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca ACGCCTAACGCA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAacgcctaacgcaAGATCGAGACCCGACGC chr2:172543309-Alternative-G;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative T tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca AGGTGGTGTCGA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAaggtggtgtcgaAGATCGAGACCCGACGC chr2:172543309-Alternative-T;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative G tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca AGACCTGGACGA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaGataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAagacctggacgaAGATCGAGACCCGACGC chr2:172543309-Alternative-G;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Alternative T tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca ACCGATACTCAA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaTataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAaccgatactcaaAGATCGAGACCCGACGC chr2:172543309-Alternative-T;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Reference A tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca CAGCTACCTTCG CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAcagctaccttcgAGATCGAGACCCGACGC chr2:172543309-Reference-A;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Variant C tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca AGGCTCTATCAA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAaggctctatcaaAGATCGAGACCCGACGC chr2:172543309-Variant-C;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Reference A tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca CTTGTAGTCCAT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAActtgtagtccatAGATCGAGACCCGACGC chr2:172543309-Reference-A;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Variant C tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GACCAATTCACA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgaccaattcacaAGATCGAGACCCGACGC chr2:172543309-Variant-C;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Reference A tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GTGACGTCGATT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgtgacgtcgattAGATCGAGACCCGACGC chr2:172543309-Reference-A;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Variant C tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca AGCCTTAAGAAG CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAagccttaagaagAGATCGAGACCCGACGC chr2:172543309-Variant-C;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Variant C tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca GCACGATCACGA CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAgcacgatcacgaAGATCGAGACCCGACGC chr2:172543309-Variant-C;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Variant C tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca ACACACAGGTGG CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaCataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAacacacaggtggAGATCGAGACCCGACGC chr2:172543309-Variant-C;Patient-91 chr2:172543309-AC Inherited Patient-91 intergenic 0.000159 0.000513 0.53 9.67 3 DYNC1I2 609 Reference A tctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtataca CGGTGTCACACT CGACGCGGTCTCTCTCTtctagaacatagaaaagatattaccttggtgttagctttaactcctgccaAataatgctttaaattatttaaactttaaaaaggtgtgtcaatgtatacaAGAGGGAGACGGACGTCTCAATAAcggtgtcacactAGATCGAGACCCGACGC chr2:172543309-Reference-A;Patient-91 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative C ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GCGGAAGCTGTT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcggaagctgttAGATCGAGACCCGACGC chr2:172810118-Alternative-C;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative C ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa AGGCGCTGTGAT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggcgctgtgatAGATCGAGACCCGACGC chr2:172810118-Alternative-C;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative C ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa ACCTGTTGTACT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacctgttgtactAGATCGAGACCCGACGC chr2:172810118-Alternative-C;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative C ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GCCAGACTTATA CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgccagacttataAGATCGAGACCCGACGC chr2:172810118-Alternative-C;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative T ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GAGCATTGAGAT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgagcattgagatAGATCGAGACCCGACGC chr2:172810118-Alternative-T;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Reference G ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa CGCATCACTAAC CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgcatcactaacAGATCGAGACCCGACGC chr2:172810118-Reference-G;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Variant A ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GCAACACATTGA CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcaacacattgaAGATCGAGACCCGACGC chr2:172810118-Variant-A;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Reference G ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa CGGACTATAGCG CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggactatagcgAGATCGAGACCCGACGC chr2:172810118-Reference-G;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Reference G ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GGATAGCCGCTT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggatagccgcttAGATCGAGACCCGACGC chr2:172810118-Reference-G;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative T ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa ATTGGCGGTCGT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattggcggtcgtAGATCGAGACCCGACGC chr2:172810118-Alternative-T;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative C ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa ATTACGTGAGCG CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccCggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattacgtgagcgAGATCGAGACCCGACGC chr2:172810118-Alternative-C;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Variant A ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa CTAATCGCTACA CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActaatcgctacaAGATCGAGACCCGACGC chr2:172810118-Variant-A;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative T ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GTTGTTCACATC CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgttgttcacatcAGATCGAGACCCGACGC chr2:172810118-Alternative-T;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Reference G ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa ACGGTCGGTAGA CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacggtcggtagaAGATCGAGACCCGACGC chr2:172810118-Reference-G;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative T ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GTCGGAAGGTGT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcggaaggtgtAGATCGAGACCCGACGC chr2:172810118-Alternative-T;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Variant A ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa GTCGCAGTAGTC CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcgcagtagtcAGATCGAGACCCGACGC chr2:172810118-Variant-A;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Reference G ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa CTCAACTGCGAG CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccGggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActcaactgcgagAGATCGAGACCCGACGC chr2:172810118-Reference-G;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Variant A ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa ACTTGCTTGCGG CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacttgcttgcggAGATCGAGACCCGACGC chr2:172810118-Variant-A;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Alternative T ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa CACGGTGGTAAC CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccTggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcacggtggtaacAGATCGAGACCCGACGC chr2:172810118-Alternative-T;Patient-62 chr2:172810118-GA DeNovo Patient-62 intronic HAT1 3.9e-05 4.95e-05 -0.36 0.23 -0.45 HAT1 31182 Variant A ggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaa AGCTCGTAGTAT CGACGCGGTCTCTCTCTggagcttgaggctgccagtgagccatgatggcaccactgcactccagcccAggcaacagaacaagaccctgtctcttaaaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagctcgtagtatAGATCGAGACCCGACGC chr2:172810118-Variant-A;Patient-62 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Variant C cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa AGTCGCGTGGTT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAagtcgcgtggttAGATCGAGACCCGACGC chr2:172997894-Variant-C;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Variant C cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GATTGTACGCTA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgattgtacgctaAGATCGAGACCCGACGC chr2:172997894-Variant-C;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Reference A cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GAGCTCACGTCA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgagctcacgtcaAGATCGAGACCCGACGC chr2:172997894-Reference-A;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Reference A cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa ATCTGGCGTGCT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAatctggcgtgctAGATCGAGACCCGACGC chr2:172997894-Reference-A;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative G cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GACTAGTGGAGA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgactagtggagaAGATCGAGACCCGACGC chr2:172997894-Alternative-G;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Reference A cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GATCGCACAACC CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgatcgcacaaccAGATCGAGACCCGACGC chr2:172997894-Reference-A;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative G cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GGCGACTGGTAA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAggcgactggtaaAGATCGAGACCCGACGC chr2:172997894-Alternative-G;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative G cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa CACATTCAGACT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAcacattcagactAGATCGAGACCCGACGC chr2:172997894-Alternative-G;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative G cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa AGTAGCCGGTAC CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAagtagccggtacAGATCGAGACCCGACGC chr2:172997894-Alternative-G;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Reference A cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GATGGACGACAC CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgatggacgacacAGATCGAGACCCGACGC chr2:172997894-Reference-A;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative T cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa ATTCGACGCATA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAattcgacgcataAGATCGAGACCCGACGC chr2:172997894-Alternative-T;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative G cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa AACGGCACAACG CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcGccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAaacggcacaacgAGATCGAGACCCGACGC chr2:172997894-Alternative-G;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Variant C cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa CGGTGAACTGGT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAcggtgaactggtAGATCGAGACCCGACGC chr2:172997894-Variant-C;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Variant C cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa AACTCCTATGGT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAaactcctatggtAGATCGAGACCCGACGC chr2:172997894-Variant-C;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative T cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa CACGTGAACTAT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAcacgtgaactatAGATCGAGACCCGACGC chr2:172997894-Alternative-T;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative T cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GAGTGTTAGCTA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgagtgttagctaAGATCGAGACCCGACGC chr2:172997894-Alternative-T;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative T cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa CTCTGAGAAGCG CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAActctgagaagcgAGATCGAGACCCGACGC chr2:172997894-Alternative-T;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Reference A cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa ACCATTAGCCAT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcAccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAaccattagccatAGATCGAGACCCGACGC chr2:172997894-Reference-A;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Variant C cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa CAAGCTCGACTT CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcCccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAcaagctcgacttAGATCGAGACCCGACGC chr2:172997894-Variant-C;Patient-65 chr2:172997894-AC DeNovo Patient-65 intergenic NA 0.000512821 0.47 9.13 3.23 DLX1 47685 Alternative T cctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaa GCACGGTTGGAA CGACGCGGTCTCTCTCTcctcaagtcattctcagaatggtcttgtgaaactttggaacccaaatgtcTccattttggaatagtaaacatatttgttcaacagctaatctgtatttaaAGAGGGAGACGGACGTCTCAATAAgcacggttggaaAGATCGAGACCCGACGC chr2:172997894-Alternative-T;Patient-65 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Variant A tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CAATTACCGGAT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcaattaccggatAGATCGAGACCCGACGC chr2:173201665-Variant-A;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Variant A tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AGCGTGTGAAGG CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAagcgtgtgaaggAGATCGAGACCCGACGC chr2:173201665-Variant-A;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative T tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CACGCGACAACA CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcacgcgacaacaAGATCGAGACCCGACGC chr2:173201665-Alternative-T;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Variant A tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AACTTGCGGAAC CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAaacttgcggaacAGATCGAGACCCGACGC chr2:173201665-Variant-A;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Variant A tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac ACATAGCTACGA CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAacatagctacgaAGATCGAGACCCGACGC chr2:173201665-Variant-A;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative C tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CAACTGAGAGAT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcaactgagagatAGATCGAGACCCGACGC chr2:173201665-Alternative-C;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative T tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AGATGTCTACGG CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAagatgtctacggAGATCGAGACCCGACGC chr2:173201665-Alternative-T;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative C tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac ACCGATGAAGTT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAaccgatgaagttAGATCGAGACCCGACGC chr2:173201665-Alternative-C;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Variant A tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CAGCAACGGAGT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatAttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcagcaacggagtAGATCGAGACCCGACGC chr2:173201665-Variant-A;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative C tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AGCCACTCTTGT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAagccactcttgtAGATCGAGACCCGACGC chr2:173201665-Alternative-C;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative C tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac ACTGTGTGCATT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAactgtgtgcattAGATCGAGACCCGACGC chr2:173201665-Alternative-C;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative T tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AGAATTGCATCG CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAagaattgcatcgAGATCGAGACCCGACGC chr2:173201665-Alternative-T;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative T tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CACACATTATGG CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcacacattatggAGATCGAGACCCGACGC chr2:173201665-Alternative-T;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Reference G tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac CATGCTAGTCGC CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAcatgctagtcgcAGATCGAGACCCGACGC chr2:173201665-Reference-G;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative C tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac ACAAGTTCAACC CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatCttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAacaagttcaaccAGATCGAGACCCGACGC chr2:173201665-Alternative-C;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Reference G tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac GCAGTCATCAAT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAgcagtcatcaatAGATCGAGACCCGACGC chr2:173201665-Reference-G;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Alternative T tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac GGAATTCGCCGT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatTttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAggaattcgccgtAGATCGAGACCCGACGC chr2:173201665-Alternative-T;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Reference G tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac AATAGGTGCGAT CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAaataggtgcgatAGATCGAGACCCGACGC chr2:173201665-Reference-G;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Reference G tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac ATCGGTTCGTAA CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAatcggttcgtaaAGATCGAGACCCGACGC chr2:173201665-Reference-G;Patient-61 chr2:173201665-GA DeNovo Patient-61 intergenic 3.2e-05 0.000513 -0.08 1.55 1.13 ITGA6 90648 Reference G tgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacac GCGTAAGGATAA CGACGCGGTCTCTCTCTtgactctgctgctggagcttatatgtttttgtgcctgcttattcataaatGttggtatgtgtggcagaattctgaatgaaatctgccttcattttcacacAGAGGGAGACGGACGTCTCAATAAgcgtaaggataaAGATCGAGACCCGACGC chr2:173201665-Reference-G;Patient-61 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative G ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtca GCAATGCGCAAG CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgcaatgcgcaagAGATCGAGACCCGACGC chr2:173632067-Alternative-G;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative G ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtca AAGTCGTCGTGC CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAaagtcgtcgtgcAGATCGAGACCCGACGC chr2:173632067-Alternative-G;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative G ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtca GCAGTATACGTT CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgcagtatacgttAGATCGAGACCCGACGC chr2:173632067-Alternative-G;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Variant T ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtca GCGATAGCGGAA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgcgatagcggaaAGATCGAGACCCGACGC chr2:173632067-Variant-T;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative G ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtca AGTCGATTGACG CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAagtcgattgacgAGATCGAGACCCGACGC chr2:173632067-Alternative-G;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Variant T ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtca GTGCGAGTATAA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgtgcgagtataaAGATCGAGACCCGACGC chr2:173632067-Variant-T;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative A ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtca GTGGCGTCTTGT CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgtggcgtcttgtAGATCGAGACCCGACGC chr2:173632067-Alternative-A;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative A ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtca ATCGCGCTCACA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAatcgcgctcacaAGATCGAGACCCGACGC chr2:173632067-Alternative-A;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Reference C ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtca GTAACGTCAATC CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgtaacgtcaatcAGATCGAGACCCGACGC chr2:173632067-Reference-C;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Variant T ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtca GGACGAGTTGCA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAggacgagttgcaAGATCGAGACCCGACGC chr2:173632067-Variant-T;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Variant T ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtca AACGCGTAATCA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAaacgcgtaatcaAGATCGAGACCCGACGC chr2:173632067-Variant-T;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative G ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtca CGCGGTACTAAG CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccGggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcgcggtactaagAGATCGAGACCCGACGC chr2:173632067-Alternative-G;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative A ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtca GGTTGTTCGCCT CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAggttgttcgcctAGATCGAGACCCGACGC chr2:173632067-Alternative-A;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative A ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtca CGAAGTAACAAC CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcgaagtaacaacAGATCGAGACCCGACGC chr2:173632067-Alternative-A;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Variant T ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtca ATCATCCGATGT CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccTggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAatcatccgatgtAGATCGAGACCCGACGC chr2:173632067-Variant-T;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Alternative A ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtca ATCGTCCATTCA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccAggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAatcgtccattcaAGATCGAGACCCGACGC chr2:173632067-Alternative-A;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Reference C ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtca GATCACGTCACG CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgatcacgtcacgAGATCGAGACCCGACGC chr2:173632067-Reference-C;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Reference C ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtca CTTGGTTGTCTA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAActtggttgtctaAGATCGAGACCCGACGC chr2:173632067-Reference-C;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Reference C ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtca ACGGCCATCATA CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAacggccatcataAGATCGAGACCCGACGC chr2:173632067-Reference-C;Patient-77 chr2:173632067-CT DeNovo Patient-77 intronic RAPGEF4 0.000224 4.95e-05 NA NA NA RAPGEF4 31541 Reference C ctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtca GACCTCGGCTAT CGACGCGGTCTCTCTCTctgcctcagcttcccgagtagctgggattacaggcatgcgccaccatgccCggctagtttttgtatttttagtatagacagggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgacctcggctatAGATCGAGACCCGACGC chr2:173632067-Reference-C;Patient-77 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Reference G tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CTTAGTACGGCG CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAActtagtacggcgAGATCGAGACCCGACGC chr2:175139473-Reference-G;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative T tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AATGCGATCTAC CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAaatgcgatctacAGATCGAGACCCGACGC chr2:175139473-Alternative-T;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Variant C tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttat GATCCGAAGTAC CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAgatccgaagtacAGATCGAGACCCGACGC chr2:175139473-Variant-C;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative A tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttat ATAATGCGCTGA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAataatgcgctgaAGATCGAGACCCGACGC chr2:175139473-Alternative-A;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative A tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CGAGCGGTTAGT CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAcgagcggttagtAGATCGAGACCCGACGC chr2:175139473-Alternative-A;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative T tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AAGTCCGCTATA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAaagtccgctataAGATCGAGACCCGACGC chr2:175139473-Alternative-T;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative T tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AGAGTTGTAGTC CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAagagttgtagtcAGATCGAGACCCGACGC chr2:175139473-Alternative-T;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Variant C tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CATAACGCTCGG CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAcataacgctcggAGATCGAGACCCGACGC chr2:175139473-Variant-C;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Variant C tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttat ATATAAGGTGCG CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAatataaggtgcgAGATCGAGACCCGACGC chr2:175139473-Variant-C;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative A tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AATCACGCGAGT CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAaatcacgcgagtAGATCGAGACCCGACGC chr2:175139473-Alternative-A;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative A tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttat ACTGTCTTATGC CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAactgtcttatgcAGATCGAGACCCGACGC chr2:175139473-Alternative-A;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Variant C tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CGTCAGGTAATT CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAcgtcaggtaattAGATCGAGACCCGACGC chr2:175139473-Variant-C;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative T tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttat GACGTACGAGCA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAgacgtacgagcaAGATCGAGACCCGACGC chr2:175139473-Alternative-T;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Reference G tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AACCATGACCAC CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAaaccatgaccacAGATCGAGACCCGACGC chr2:175139473-Reference-G;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Variant C tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CGGCTACCTTGA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttCgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAcggctaccttgaAGATCGAGACCCGACGC chr2:175139473-Variant-C;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative A tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttat GGTATGCTTCAA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttAgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAggtatgcttcaaAGATCGAGACCCGACGC chr2:175139473-Alternative-A;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Alternative T tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttat GAATTGGCCGGT CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttTgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAgaattggccggtAGATCGAGACCCGACGC chr2:175139473-Alternative-T;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Reference G tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttat AACAGATCCGAT CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAaacagatccgatAGATCGAGACCCGACGC chr2:175139473-Reference-G;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Reference G tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttat GACGCAGTACGA CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAAgacgcagtacgaAGATCGAGACCCGACGC chr2:175139473-Reference-G;Patient-37 chr2:175139473-GC Inherited Patient-37 intergenic NA 0.000513 0.16 5.23 -0.06 SP9 60347 Reference G tagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttat CTCTCTCTGTCG CGACGCGGTCTCTCTCTtagcctttacacctcctgagtgcattgttgagcctagtgattaaggacttGgggggaattttacataagaaaacaggtggttatagagtgttgcttttatAGAGGGAGACGGACGTCTCAATAActctctctgtcgAGATCGAGACCCGACGC chr2:175139473-Reference-G;Patient-37 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative G tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GCAGCTTCTAGG CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgcagcttctaggAGATCGAGACCCGACGC chr2:175804442-Alternative-G;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Reference A tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc CGGTAGACTAAT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAcggtagactaatAGATCGAGACCCGACGC chr2:175804442-Reference-A;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Variant T tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GACGCTGTAACC CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgacgctgtaaccAGATCGAGACCCGACGC chr2:175804442-Variant-T;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative G tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GGACTTCTGGAT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAggacttctggatAGATCGAGACCCGACGC chr2:175804442-Alternative-G;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative G tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GTTACTGACGCG CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgttactgacgcgAGATCGAGACCCGACGC chr2:175804442-Alternative-G;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Variant T tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GTTCGATTATGG CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgttcgattatggAGATCGAGACCCGACGC chr2:175804442-Variant-T;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Reference A tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc ATAGACGAGCCA CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAatagacgagccaAGATCGAGACCCGACGC chr2:175804442-Reference-A;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Variant T tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GCCTGACGTGAT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgcctgacgtgatAGATCGAGACCCGACGC chr2:175804442-Variant-T;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative G tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc AGGTGCGCTAAC CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAaggtgcgctaacAGATCGAGACCCGACGC chr2:175804442-Alternative-G;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Reference A tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GCATGATTATGC CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgcatgattatgcAGATCGAGACCCGACGC chr2:175804442-Reference-A;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Reference A tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc AGTGTTACGCTA CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAagtgttacgctaAGATCGAGACCCGACGC chr2:175804442-Reference-A;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative C tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GATACATGCTGT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgatacatgctgtAGATCGAGACCCGACGC chr2:175804442-Alternative-C;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Variant T tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc CAATGGACGTAA CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAcaatggacgtaaAGATCGAGACCCGACGC chr2:175804442-Variant-T;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Reference A tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc CATCTCCGACGT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttAaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAcatctccgacgtAGATCGAGACCCGACGC chr2:175804442-Reference-A;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative C tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc ACGTAGCATAAG CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAacgtagcataagAGATCGAGACCCGACGC chr2:175804442-Alternative-C;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative G tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc AATACTTCGACG CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttGaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAaatacttcgacgAGATCGAGACCCGACGC chr2:175804442-Alternative-G;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative C tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc CGAGCGTATGCT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAcgagcgtatgctAGATCGAGACCCGACGC chr2:175804442-Alternative-C;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative C tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc AGGACGTAGCGT CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAaggacgtagcgtAGATCGAGACCCGACGC chr2:175804442-Alternative-C;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Variant T tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc AGGAACTTCCTA CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttTaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAaggaacttcctaAGATCGAGACCCGACGC chr2:175804442-Variant-T;Patient-79 chr2:175804442-AT DeNovo Patient-79 intronic CHN1 NA 4.95e-05 0.2 5.81 1.28 CHN1 65664 Alternative C tgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagc GTCGCAACCAAC CGACGCGGTCTCTCTCTtgtgaacagaacatgaaacaaaatgaaacattttattaaatagcatttttCaaattcccattacatgcaaattatttaatcatccttgatcacagcgagcAGAGGGAGACGGACGTCTCAATAAgtcgcaaccaacAGATCGAGACCCGACGC chr2:175804442-Alternative-C;Patient-79 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative G ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ACGTAGACGGCA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAacgtagacggcaAGATCGAGACCCGACGC chr2:175905279-Alternative-G;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative A ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ACATCAGGAACA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAacatcaggaacaAGATCGAGACCCGACGC chr2:175905279-Alternative-A;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Variant T ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata CGTGCGTATATA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAcgtgcgtatataAGATCGAGACCCGACGC chr2:175905279-Variant-T;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Variant T ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ATCAATGCGGCG CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAatcaatgcggcgAGATCGAGACCCGACGC chr2:175905279-Variant-T;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative G ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata GGACTTAACCGA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAggacttaaccgaAGATCGAGACCCGACGC chr2:175905279-Alternative-G;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Reference C ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ACTGAAGCGCGA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAactgaagcgcgaAGATCGAGACCCGACGC chr2:175905279-Reference-C;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Variant T ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata AGCCAGGCTAAC CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAagccaggctaacAGATCGAGACCCGACGC chr2:175905279-Variant-T;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Reference C ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata AATCATCGGAAC CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAaatcatcggaacAGATCGAGACCCGACGC chr2:175905279-Reference-C;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative G ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata AGCGGTGGAACT CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAagcggtggaactAGATCGAGACCCGACGC chr2:175905279-Alternative-G;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative G ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata AGATGCGCTAAT CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAagatgcgctaatAGATCGAGACCCGACGC chr2:175905279-Alternative-G;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Reference C ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata CATGCGATGCGA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAcatgcgatgcgaAGATCGAGACCCGACGC chr2:175905279-Reference-C;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Reference C ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata GGTTGTGACTAT CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAggttgtgactatAGATCGAGACCCGACGC chr2:175905279-Reference-C;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Variant T ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata CGTGTAAGTTCA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAcgtgtaagttcaAGATCGAGACCCGACGC chr2:175905279-Variant-T;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative A ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ACCGTTGTTATC CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAaccgttgttatcAGATCGAGACCCGACGC chr2:175905279-Alternative-A;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative G ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata CGCAAGTATTCG CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcGgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAcgcaagtattcgAGATCGAGACCCGACGC chr2:175905279-Alternative-G;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Reference C ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata GCGTACAAGTAA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcCgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAgcgtacaagtaaAGATCGAGACCCGACGC chr2:175905279-Reference-C;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative A ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ACCGTTCGATAA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAaccgttcgataaAGATCGAGACCCGACGC chr2:175905279-Alternative-A;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative A ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata ATCCGCGCTATA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAatccgcgctataAGATCGAGACCCGACGC chr2:175905279-Alternative-A;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Variant T ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata CATAGTAAGCGA CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcTgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAcatagtaagcgaAGATCGAGACCCGACGC chr2:175905279-Variant-T;Patient-81 chr2:175905279-CT DeNovo Patient-81 intergenic 0.000127 0.00154 -0.31 0.33 -0.4 CHN1 35171 Alternative A ctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtata GGTCATAGTACT CGACGCGGTCTCTCTCTctttctcctgctctgccatggtaagatgtgcttgattcccctttgctttcAgccatgtttcctaagtttcccgaggcttcccagccatgcctcctgtataAGAGGGAGACGGACGTCTCAATAAggtcatagtactAGATCGAGACCCGACGC chr2:175905279-Alternative-A;Patient-81 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Reference C gaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GGTATTGCGTGC CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAggtattgcgtgcAGATCGAGACCCGACGC chr2:17677309-Reference-C;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative G gaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CGAGATACTGAT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAcgagatactgatAGATCGAGACCCGACGC chr2:17677309-Alternative-G;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative G gaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattatt ACCTAGAATTGC CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAacctagaattgcAGATCGAGACCCGACGC chr2:17677309-Alternative-G;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Reference C gaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CTCGCGTACCTT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAActcgcgtaccttAGATCGAGACCCGACGC chr2:17677309-Reference-C;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Variant A gaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattatt AACAAGAGCCTT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAaacaagagccttAGATCGAGACCCGACGC chr2:17677309-Variant-A;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Variant A gaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CTCTCGGCTACA CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAActctcggctacaAGATCGAGACCCGACGC chr2:17677309-Variant-A;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative G gaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GCATCTAACGAA CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgcatctaacgaaAGATCGAGACCCGACGC chr2:17677309-Alternative-G;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Reference C gaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CATTCGCAGCGT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAcattcgcagcgtAGATCGAGACCCGACGC chr2:17677309-Reference-C;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Reference C gaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattatt AACGTGCAGGAC CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAaacgtgcaggacAGATCGAGACCCGACGC chr2:17677309-Reference-C;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative T gaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CAAGACGTTCGT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAcaagacgttcgtAGATCGAGACCCGACGC chr2:17677309-Alternative-T;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative T gaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattatt AGTGGCTCTGAC CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAagtggctctgacAGATCGAGACCCGACGC chr2:17677309-Alternative-T;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Variant A gaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GGTGGATGGAGA CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAggtggatggagaAGATCGAGACCCGACGC chr2:17677309-Variant-A;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Reference C gaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GCCTGAAGGAGT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcCtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgcctgaaggagtAGATCGAGACCCGACGC chr2:17677309-Reference-C;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Variant A gaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattatt CTATTGTGTCAC CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAActattgtgtcacAGATCGAGACCCGACGC chr2:17677309-Variant-A;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative G gaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattatt AATAACGTGACG CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAaataacgtgacgAGATCGAGACCCGACGC chr2:17677309-Alternative-G;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative T gaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GCGAAGATCGCA CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgcgaagatcgcaAGATCGAGACCCGACGC chr2:17677309-Alternative-T;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative T gaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattatt AGTGTCGACAGG CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAagtgtcgacaggAGATCGAGACCCGACGC chr2:17677309-Alternative-T;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative G gaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GTCTCGAGTGGT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcGtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgtctcgagtggtAGATCGAGACCCGACGC chr2:17677309-Alternative-G;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Alternative T gaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GATAGCATGAGT CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcTtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgatagcatgagtAGATCGAGACCCGACGC chr2:17677309-Alternative-T;Patient-59 chr2:17677309-CA Inherited Patient-59 intergenic 0.000957 0.00205 0.48 9.17 0.63 VSNL1 44497 Variant A gaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattatt GCCTGGACAACA CGACGCGGTCTCTCTCTgaacatccagagactttcacaatcacatctatacccacttaccttctcgcAtgttaccaaagataataaattttcaggctcctacctaaagccaattattAGAGGGAGACGGACGTCTCAATAAgcctggacaacaAGATCGAGACCCGACGC chr2:17677309-Variant-A;Patient-59 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative G atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcct GGTATCTGCGGT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAggtatctgcggtAGATCGAGACCCGACGC chr2:176782482-Alternative-G;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative G atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcct ACGCATACCTGG CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAacgcatacctggAGATCGAGACCCGACGC chr2:176782482-Alternative-G;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative G atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcct GTGACATAGGCG CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAgtgacataggcgAGATCGAGACCCGACGC chr2:176782482-Alternative-G;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative G atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcct AGATCGTATGCT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAagatcgtatgctAGATCGAGACCCGACGC chr2:176782482-Alternative-G;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative G atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcct AGATCGAGAGCT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgGcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAagatcgagagctAGATCGAGACCCGACGC chr2:176782482-Alternative-G;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative T atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcct CTTATGCATCCA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAActtatgcatccaAGATCGAGACCCGACGC chr2:176782482-Alternative-T;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Reference A atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcct CGGTGTACTCGT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAcggtgtactcgtAGATCGAGACCCGACGC chr2:176782482-Reference-A;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Reference A atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcct CATCGACGACGT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAcatcgacgacgtAGATCGAGACCCGACGC chr2:176782482-Reference-A;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Variant C atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcct ACTAAGACCTAC CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAactaagacctacAGATCGAGACCCGACGC chr2:176782482-Variant-C;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Variant C atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcct AGACGAACATCG CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAagacgaacatcgAGATCGAGACCCGACGC chr2:176782482-Variant-C;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative T atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcct GATCAAGCCTGA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAgatcaagcctgaAGATCGAGACCCGACGC chr2:176782482-Alternative-T;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Reference A atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcct CATTAGGCGCGA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAcattaggcgcgaAGATCGAGACCCGACGC chr2:176782482-Reference-A;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Reference A atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcct ACGTCGAGTCGT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAacgtcgagtcgtAGATCGAGACCCGACGC chr2:176782482-Reference-A;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Reference A atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcct ACTTGACCGTAA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgAcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAacttgaccgtaaAGATCGAGACCCGACGC chr2:176782482-Reference-A;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative T atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcct ATCGTAAGCCGC CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAatcgtaagccgcAGATCGAGACCCGACGC chr2:176782482-Alternative-T;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative T atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcct GACATCGGATGG CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAgacatcggatggAGATCGAGACCCGACGC chr2:176782482-Alternative-T;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Variant C atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcct CGGCTAATGCAC CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAcggctaatgcacAGATCGAGACCCGACGC chr2:176782482-Variant-C;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Alternative T atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcct AGCAAGCTATGT CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgTcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAagcaagctatgtAGATCGAGACCCGACGC chr2:176782482-Alternative-T;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Variant C atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcct GTACGAGTGTAA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAgtacgagtgtaaAGATCGAGACCCGACGC chr2:176782482-Variant-C;Patient-87 chr2:176782482-AC Inherited Patient-87 intergenic 0.000382 0.00103 0.12 4.67 1.25 LNPK 84535 Variant C atttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcct CGGCTTAACCGA CGACGCGGTCTCTCTCTatttgtatattaattttgccgctagtgtggcatggctgctttttctcctgCcagtatggcttctggccataggaatattttgaagaattctttaatgcctAGAGGGAGACGGACGTCTCAATAAcggcttaaccgaAGATCGAGACCCGACGC chr2:176782482-Variant-C;Patient-87 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative C tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg AGACGTAATGCA CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAagacgtaatgcaAGATCGAGACCCGACGC chr2:176907190-Alternative-C;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative C tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg CACAACTCTGCG CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAcacaactctgcgAGATCGAGACCCGACGC chr2:176907190-Alternative-C;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative C tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GCATAATGGCGC CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAgcataatggcgcAGATCGAGACCCGACGC chr2:176907190-Alternative-C;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Reference G tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg AGAATCTCTAGG CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAagaatctctaggAGATCGAGACCCGACGC chr2:176907190-Reference-G;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Variant T tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ACTCCGGTTATT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAactccggttattAGATCGAGACCCGACGC chr2:176907190-Variant-T;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative A tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ATTCGCACGCGA CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAattcgcacgcgaAGATCGAGACCCGACGC chr2:176907190-Alternative-A;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Variant T tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GCCAATCAGGTT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAgccaatcaggttAGATCGAGACCCGACGC chr2:176907190-Variant-T;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative A tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GGCTATCCTTCG CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAggctatccttcgAGATCGAGACCCGACGC chr2:176907190-Alternative-A;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Reference G tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ACATCGAGTCAT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAacatcgagtcatAGATCGAGACCCGACGC chr2:176907190-Reference-G;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Variant T tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg CACGGAACAGTT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAcacggaacagttAGATCGAGACCCGACGC chr2:176907190-Variant-T;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Variant T tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ATTGAGGTCTGA CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAattgaggtctgaAGATCGAGACCCGACGC chr2:176907190-Variant-T;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative A tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ACGTGTGTCGAT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAacgtgtgtcgatAGATCGAGACCCGACGC chr2:176907190-Alternative-A;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Variant T tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GACATACGGTGG CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagTtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAgacatacggtggAGATCGAGACCCGACGC chr2:176907190-Variant-T;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Reference G tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg ATCAAGTTCCGT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAatcaagttccgtAGATCGAGACCCGACGC chr2:176907190-Reference-G;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Reference G tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg CAACCGACGGAA CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAcaaccgacggaaAGATCGAGACCCGACGC chr2:176907190-Reference-G;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative A tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GTTACTACAACC CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAgttactacaaccAGATCGAGACCCGACGC chr2:176907190-Alternative-A;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative C tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg GCGACCATAACT CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAgcgaccataactAGATCGAGACCCGACGC chr2:176907190-Alternative-C;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative A tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg AAGATCCGTACA CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagAtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAaagatccgtacaAGATCGAGACCCGACGC chr2:176907190-Alternative-A;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Alternative C tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg AGACGATGCGAC CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagCtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAagacgatgcgacAGATCGAGACCCGACGC chr2:176907190-Alternative-C;Patient-54 chr2:176907190-GT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.59 10.22 0.34 HOXD13 50341 Reference G tccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaagg AACCGTGCGAAC CGACGCGGTCTCTCTCTtccaaatagggagaagctggaaactgtctcctgcccaagactcagcacagGtgtctgacttctttgagaggggcatccatcaagaggaatacttaaaaggAGAGGGAGACGGACGTCTCAATAAaaccgtgcgaacAGATCGAGACCCGACGC chr2:176907190-Reference-G;Patient-54 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative A cactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CTAAGACGTAAG CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAActaagacgtaagAGATCGAGACCCGACGC chr2:176951389-Alternative-A;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative A cactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca GCCGTAGGAGAA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAgccgtaggagaaAGATCGAGACCCGACGC chr2:176951389-Alternative-A;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Variant C cactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca GGTATGCGGTCT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAggtatgcggtctAGATCGAGACCCGACGC chr2:176951389-Variant-C;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative A cactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca GTCATCTAGGAT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAgtcatctaggatAGATCGAGACCCGACGC chr2:176951389-Alternative-A;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Reference T cactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CTGCGAACTGGT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAActgcgaactggtAGATCGAGACCCGACGC chr2:176951389-Reference-T;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative A cactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CGTCGCGTACTA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcgtcgcgtactaAGATCGAGACCCGACGC chr2:176951389-Alternative-A;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Reference T cactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca ACGATGACACCG CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAacgatgacaccgAGATCGAGACCCGACGC chr2:176951389-Reference-T;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Reference T cactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca GATGCTCGCCTA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAgatgctcgcctaAGATCGAGACCCGACGC chr2:176951389-Reference-T;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative G cactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CAGCTCACCGAA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcagctcaccgaaAGATCGAGACCCGACGC chr2:176951389-Alternative-G;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Reference T cactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca GATCGTACTTGT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAgatcgtacttgtAGATCGAGACCCGACGC chr2:176951389-Reference-T;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Reference T cactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CTTATCGATGCT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttTtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAActtatcgatgctAGATCGAGACCCGACGC chr2:176951389-Reference-T;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative G cactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CGGCAGGTGATA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcggcaggtgataAGATCGAGACCCGACGC chr2:176951389-Alternative-G;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative A cactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CGCTATCACTAT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttAtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcgctatcactatAGATCGAGACCCGACGC chr2:176951389-Alternative-A;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Variant C cactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CGCTCGCCTAAT CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcgctcgcctaatAGATCGAGACCCGACGC chr2:176951389-Variant-C;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative G cactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CAGTTCGCTAAG CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAcagttcgctaagAGATCGAGACCCGACGC chr2:176951389-Alternative-G;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Variant C cactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca ATAGTTGGAACG CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAatagttggaacgAGATCGAGACCCGACGC chr2:176951389-Variant-C;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative G cactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca CTGTGTCGCATC CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAActgtgtcgcatcAGATCGAGACCCGACGC chr2:176951389-Alternative-G;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Alternative G cactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca AATCTTATCCGC CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttGtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAaatcttatccgcAGATCGAGACCCGACGC chr2:176951389-Alternative-G;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Variant C cactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca ACGGCAGTTGAG CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAacggcagttgagAGATCGAGACCCGACGC chr2:176951389-Variant-C;Patient-91 chr2:176951389-TC DeNovo Patient-91 intergenic NA 0.000513 0.45 8.87 0.43 EVX2 2698 Variant C cactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattaca ACGTAGGATCAA CGACGCGGTCTCTCTCTcactatttctcagcagcaccttcattcattagtggctttgaaaactatttCtgcaccttttaaatgacactgatagtgcatttctagcacgtttattacaAGAGGGAGACGGACGTCTCAATAAacgtaggatcaaAGATCGAGACCCGACGC chr2:176951389-Variant-C;Patient-91 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Variant G tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CATCAATCAGCG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcatcaatcagcgAGATCGAGACCCGACGC chr2:178076805-Variant-G;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative A tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ACGCTTATCGTT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacgcttatcgttAGATCGAGACCCGACGC chr2:178076805-Alternative-A;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Variant G tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ACCTAGCACACG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacctagcacacgAGATCGAGACCCGACGC chr2:178076805-Variant-G;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Variant G tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CGACACCAAGTC CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcgacaccaagtcAGATCGAGACCCGACGC chr2:178076805-Variant-G;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Reference T tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt GACCTGGCTCTT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgacctggctcttAGATCGAGACCCGACGC chr2:178076805-Reference-T;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative A tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ACATGCGCAGCA CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacatgcgcagcaAGATCGAGACCCGACGC chr2:178076805-Alternative-A;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative A tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CTAGCGAACCTT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAActagcgaaccttAGATCGAGACCCGACGC chr2:178076805-Alternative-A;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Reference T tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt GAGTTACACGGC CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgagttacacggcAGATCGAGACCCGACGC chr2:178076805-Reference-T;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Variant G tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ATTCTTGGCCGG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAattcttggccggAGATCGAGACCCGACGC chr2:178076805-Variant-G;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Reference T tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ACTCCAATCTGT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAactccaatctgtAGATCGAGACCCGACGC chr2:178076805-Reference-T;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative A tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CGCGGTACATAT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcgcggtacatatAGATCGAGACCCGACGC chr2:178076805-Alternative-A;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Reference T tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ACGCGAATGTGG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAacgcgaatgtggAGATCGAGACCCGACGC chr2:178076805-Reference-T;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Reference T tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt AGATATGGACGG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttTcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAagatatggacggAGATCGAGACCCGACGC chr2:178076805-Reference-T;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative A tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt GGTTATGCGTCG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttActtgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAggttatgcgtcgAGATCGAGACCCGACGC chr2:178076805-Alternative-A;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Variant G tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt GAGTCTCTTGTT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttGcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAgagtctcttgttAGATCGAGACCCGACGC chr2:178076805-Variant-G;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative C tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CGGAGTATATGA CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcggagtatatgaAGATCGAGACCCGACGC chr2:178076805-Alternative-C;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative C tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CATCTCGCTCCT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcatctcgctcctAGATCGAGACCCGACGC chr2:178076805-Alternative-C;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative C tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt AAGCGGTGCGAT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAaagcggtgcgatAGATCGAGACCCGACGC chr2:178076805-Alternative-C;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative C tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt CAGGACGTAACT CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAcaggacgtaactAGATCGAGACCCGACGC chr2:178076805-Alternative-C;Patient-101 chr2:178076805-TG DeNovo Patient-101 intergenic 6.4e-05 0.000513 0.43 8.69 0.66 HNRNPA3 616 Alternative C tttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggt ATCGCGCTATCG CGACGCGGTCTCTCTCTtttccacactaacttgaaagaagcacattagaaaatagtcctgacttgttCcttgagatcagtaactaatgaactgacctccaccagtcctgcctcaggtAGAGGGAGACGGACGTCTCAATAAatcgcgctatcgAGATCGAGACCCGACGC chr2:178076805-Alternative-C;Patient-101 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Variant C aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa ACAACTAAGACG CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAacaactaagacgAGATCGAGACCCGACGC chr2:179860145-Variant-C;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Variant C aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CAGGTCGAAGAT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAcaggtcgaagatAGATCGAGACCCGACGC chr2:179860145-Variant-C;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Variant C aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa GTATCGTCGCGA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAgtatcgtcgcgaAGATCGAGACCCGACGC chr2:179860145-Variant-C;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Variant C aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa AATGTTGCTCGA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAaatgttgctcgaAGATCGAGACCCGACGC chr2:179860145-Variant-C;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Reference A aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa AATAGCGGTACA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAaatagcggtacaAGATCGAGACCCGACGC chr2:179860145-Reference-A;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Reference A aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CGCTGACATGAA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAcgctgacatgaaAGATCGAGACCCGACGC chr2:179860145-Reference-A;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative T aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CAAGATGCTCTT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAcaagatgctcttAGATCGAGACCCGACGC chr2:179860145-Alternative-T;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Reference A aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa ACAGGCGTCGTT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAacaggcgtcgttAGATCGAGACCCGACGC chr2:179860145-Reference-A;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Variant C aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CGTGAACGCAAT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgCttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAcgtgaacgcaatAGATCGAGACCCGACGC chr2:179860145-Variant-C;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Reference A aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa ATCTGCTATTGC CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAatctgctattgcAGATCGAGACCCGACGC chr2:179860145-Reference-A;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Reference A aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa GATAGCGGTCTA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgAttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAgatagcggtctaAGATCGAGACCCGACGC chr2:179860145-Reference-A;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative G aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CAAGCTGTAACT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAcaagctgtaactAGATCGAGACCCGACGC chr2:179860145-Alternative-G;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative G aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CTTGTAGTTCGT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAActtgtagttcgtAGATCGAGACCCGACGC chr2:179860145-Alternative-G;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative T aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CTGCTCAACGTT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAActgctcaacgttAGATCGAGACCCGACGC chr2:179860145-Alternative-T;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative G aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa GACTAGAAGGTT CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAgactagaaggttAGATCGAGACCCGACGC chr2:179860145-Alternative-G;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative T aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa CTCTCGACCACA CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAActctcgaccacaAGATCGAGACCCGACGC chr2:179860145-Alternative-T;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative T aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa GGCTATTATGAG CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAggctattatgagAGATCGAGACCCGACGC chr2:179860145-Alternative-T;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative T aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa ATCCTGCAACGG CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgTttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAatcctgcaacggAGATCGAGACCCGACGC chr2:179860145-Alternative-T;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative G aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa GATCGCTTGTGG CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAgatcgcttgtggAGATCGAGACCCGACGC chr2:179860145-Alternative-G;Patient-25 chr2:179860145-AC Inherited Patient-25 intronic CCDC141 0.000796 0.000148 -0.02 2.35 0.23 CCDC141 54640 Alternative G aagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaa ATACTAACCTGG CGACGCGGTCTCTCTCTaagacttattcactatcatgagaacagcacgggaaagacctgctcccatgGttcaattatctcccaccaggtccctcccacaacacatgggaattcaaaaAGAGGGAGACGGACGTCTCAATAAatactaacctggAGATCGAGACCCGACGC chr2:179860145-Alternative-G;Patient-25 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Reference G ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgt CATCATCGTGCG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcatcatcgtgcgAGATCGAGACCCGACGC chr2:18122759-Reference-G;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Reference G ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgt CGTTGACCTATT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcgttgacctattAGATCGAGACCCGACGC chr2:18122759-Reference-G;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative C ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgt AGGTTGACTATC CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAaggttgactatcAGATCGAGACCCGACGC chr2:18122759-Alternative-C;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative T ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgt ATCCGGTTACGG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAatccggttacggAGATCGAGACCCGACGC chr2:18122759-Alternative-T;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative T ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgt CGACATTAGTGT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcgacattagtgtAGATCGAGACCCGACGC chr2:18122759-Alternative-T;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative T ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgt AACCGTGATGAT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAaaccgtgatgatAGATCGAGACCCGACGC chr2:18122759-Alternative-T;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative C ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgt ACCGTTGTTCGG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAaccgttgttcggAGATCGAGACCCGACGC chr2:18122759-Alternative-C;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Reference G ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgt ATCGAGTTGGCG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAatcgagttggcgAGATCGAGACCCGACGC chr2:18122759-Reference-G;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Reference G ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgt CGTCTGCTATTA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcgtctgctattaAGATCGAGACCCGACGC chr2:18122759-Reference-G;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Reference G ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgt CGTCCAACCAGA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttGaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcgtccaaccagaAGATCGAGACCCGACGC chr2:18122759-Reference-G;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative C ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgt ATAAGCGGCATA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAataagcggcataAGATCGAGACCCGACGC chr2:18122759-Alternative-C;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Variant A ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgt AGCTGAACGATA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAagctgaacgataAGATCGAGACCCGACGC chr2:18122759-Variant-A;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative T ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgt GTAGGTGGAAGG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAgtaggtggaaggAGATCGAGACCCGACGC chr2:18122759-Alternative-T;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative T ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgt CTGCTCGATGCT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttTaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAActgctcgatgctAGATCGAGACCCGACGC chr2:18122759-Alternative-T;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Variant A ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgt CACGGTAGTAGG CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcacggtagtaggAGATCGAGACCCGACGC chr2:18122759-Variant-A;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative C ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgt CTGTTCGATGAA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAActgttcgatgaaAGATCGAGACCCGACGC chr2:18122759-Alternative-C;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Variant A ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgt CGCTTGTCAATT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcgcttgtcaattAGATCGAGACCCGACGC chr2:18122759-Variant-A;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Alternative C ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgt CATCCAACAACA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttCaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAcatccaacaacaAGATCGAGACCCGACGC chr2:18122759-Alternative-C;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Variant A ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgt ACGTTGAGCGCA CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAacgttgagcgcaAGATCGAGACCCGACGC chr2:18122759-Variant-A;Patient-66 chr2:18122759-GA DeNovo Patient-66 intergenic NA 0.000512821 0.05 3.39 -1.75 KCNS3 62813 Variant A ggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgt ACAACGAGGATT CGACGCGGTCTCTCTCTggaatagggaaggaccctatagcttttattgtgagtgattgattgcccttAaggatcagattatttattatggttttgtctcatatccaatttcatttgtAGAGGGAGACGGACGTCTCAATAAacaacgaggattAGATCGAGACCCGACGC chr2:18122759-Variant-A;Patient-66 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative G aaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GGACATGGTAGA CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAggacatggtagaAGATCGAGACCCGACGC chr2:182102-Alternative-G;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative G aaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GGTACAGTAAGT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAggtacagtaagtAGATCGAGACCCGACGC chr2:182102-Alternative-G;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative G aaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ACTATGCTGACA CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAactatgctgacaAGATCGAGACCCGACGC chr2:182102-Alternative-G;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative G aaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ATTCTTAGCCGA CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAattcttagccgaAGATCGAGACCCGACGC chr2:182102-Alternative-G;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative G aaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat CAACTCCGACAT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaGatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAcaactccgacatAGATCGAGACCCGACGC chr2:182102-Alternative-G;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Variant A aaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat CGACTACGAGCT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAcgactacgagctAGATCGAGACCCGACGC chr2:182102-Variant-A;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative C aaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat CGTCAGTATATC CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAcgtcagtatatcAGATCGAGACCCGACGC chr2:182102-Alternative-C;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Reference T aaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ACCAATAATCGG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAaccaataatcggAGATCGAGACCCGACGC chr2:182102-Reference-T;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Reference T aaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ACTCGGATGGAG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAactcggatggagAGATCGAGACCCGACGC chr2:182102-Reference-T;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Variant A aaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GACGTTGCTACG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAgacgttgctacgAGATCGAGACCCGACGC chr2:182102-Variant-A;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Reference T aaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat AACGATGGAGAA CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAaacgatggagaaAGATCGAGACCCGACGC chr2:182102-Reference-T;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Reference T aaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GGCCGTAGCTAT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAggccgtagctatAGATCGAGACCCGACGC chr2:182102-Reference-T;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative C aaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat CTCTCACAAGCG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAActctcacaagcgAGATCGAGACCCGACGC chr2:182102-Alternative-C;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Variant A aaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GCGTAATATTCG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAgcgtaatattcgAGATCGAGACCCGACGC chr2:182102-Variant-A;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative C aaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat AGAGGTGCGGAT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAagaggtgcggatAGATCGAGACCCGACGC chr2:182102-Alternative-C;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Reference T aaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ACGGTGAGCGAT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaTatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAacggtgagcgatAGATCGAGACCCGACGC chr2:182102-Reference-T;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative C aaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat AATAGATTGCCG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAaatagattgccgAGATCGAGACCCGACGC chr2:182102-Alternative-C;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Alternative C aaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat GAGTGTGGTAAG CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaCatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAgagtgtggtaagAGATCGAGACCCGACGC chr2:182102-Alternative-C;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Variant A aaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ATTCCTAGCAGT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAattcctagcagtAGATCGAGACCCGACGC chr2:182102-Variant-A;Patient-44 chr2:182102-TA DeNovo Patient-44 intergenic NA 0.000513 -0.43 0.15 -0.3 ACP1 82766 Variant A aaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaat ATAGCGATCGAT CGACGCGGTCTCTCTCTaaaaatggctaacagaaataactttaaataatgactagatttttttctgaAatcttaattttcagaagtaatctagataggctgttaaaaatgaaagaatAGAGGGAGACGGACGTCTCAATAAatagcgatcgatAGATCGAGACCCGACGC chr2:182102-Variant-A;Patient-44 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative G gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaata ACCTGAACGTGC CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAacctgaacgtgcAGATCGAGACCCGACGC chr2:182308848-Alternative-G;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative G gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaata AGCTAGCGGTCA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAagctagcggtcaAGATCGAGACCCGACGC chr2:182308848-Alternative-G;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative C gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaata AGTACACTCGGC CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAagtacactcggcAGATCGAGACCCGACGC chr2:182308848-Alternative-C;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative G gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaata GGAGATGCCGAA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAggagatgccgaaAGATCGAGACCCGACGC chr2:182308848-Alternative-G;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative G gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaata GGTAACAACAGG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAggtaacaacaggAGATCGAGACCCGACGC chr2:182308848-Alternative-G;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Reference T gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaata CAGCTCGTATGG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAcagctcgtatggAGATCGAGACCCGACGC chr2:182308848-Reference-T;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Reference T gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaata GACTATCGTGCG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAgactatcgtgcgAGATCGAGACCCGACGC chr2:182308848-Reference-T;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative C gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaata CATGAGATATCG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAcatgagatatcgAGATCGAGACCCGACGC chr2:182308848-Alternative-C;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Variant A gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaata CTCAACAACAGG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAActcaacaacaggAGATCGAGACCCGACGC chr2:182308848-Variant-A;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Reference T gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaata CTACGTTCAACT CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAActacgttcaactAGATCGAGACCCGACGC chr2:182308848-Reference-T;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Variant A gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaata CGCTTATAAGTC CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAcgcttataagtcAGATCGAGACCCGACGC chr2:182308848-Variant-A;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative C gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaata CACTAGAACGCG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAcactagaacgcgAGATCGAGACCCGACGC chr2:182308848-Alternative-C;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Variant A gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaata AGACTGATCGCG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAagactgatcgcgAGATCGAGACCCGACGC chr2:182308848-Variant-A;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Variant A gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaata ACCTCAAGTACA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAacctcaagtacaAGATCGAGACCCGACGC chr2:182308848-Variant-A;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative G gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaata ACGATCATGCGG CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttGcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAacgatcatgcggAGATCGAGACCCGACGC chr2:182308848-Alternative-G;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative C gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaata GGCCGTGATGAT CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAggccgtgatgatAGATCGAGACCCGACGC chr2:182308848-Alternative-C;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Variant A gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaata ACGCTGACGCTA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttAcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAacgctgacgctaAGATCGAGACCCGACGC chr2:182308848-Variant-A;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Alternative C gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaata GGTCTGTCGAAC CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttCcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAggtctgtcgaacAGATCGAGACCCGACGC chr2:182308848-Alternative-C;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Reference T gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaata CAGCTCGATCGA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAcagctcgatcgaAGATCGAGACCCGACGC chr2:182308848-Reference-T;Patient-80 chr2:182308848-TA DeNovo Patient-80 intergenic 3.2e-05 3.84e-05 -0.02 2.3 -1.33 ITGA4 13103 Reference T gatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaata GTCATAGAGTCA CGACGCGGTCTCTCTCTgatttccagtgtataccaaaaatagcacatccaagctgtctgctggtcttTcaatgcacagacatgagagagctgatattattttttatttgtagtaataAGAGGGAGACGGACGTCTCAATAAgtcatagagtcaAGATCGAGACCCGACGC chr2:182308848-Reference-T;Patient-80 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative T tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct CGTTGCATTCGC CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAcgttgcattcgcAGATCGAGACCCGACGC chr2:183357196-Alternative-T;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative T tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GGCTTACGCAGT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAggcttacgcagtAGATCGAGACCCGACGC chr2:183357196-Alternative-T;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative T tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GGTGACTCGTAC CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAggtgactcgtacAGATCGAGACCCGACGC chr2:183357196-Alternative-T;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Reference G tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct ACCGCAATATCA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAaccgcaatatcaAGATCGAGACCCGACGC chr2:183357196-Reference-G;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative T tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGTAAGCTGTGA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAagtaagctgtgaAGATCGAGACCCGACGC chr2:183357196-Alternative-T;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Reference G tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct ATCCGTCATCTT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAatccgtcatcttAGATCGAGACCCGACGC chr2:183357196-Reference-G;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative C tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGCATACGTAAG CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAagcatacgtaagAGATCGAGACCCGACGC chr2:183357196-Alternative-C;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative T tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct CGATACGCGAGA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttTgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAcgatacgcgagaAGATCGAGACCCGACGC chr2:183357196-Alternative-T;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Reference G tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGGTAGGTGATT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAaggtaggtgattAGATCGAGACCCGACGC chr2:183357196-Reference-G;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Reference G tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGACCGTACATT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAagaccgtacattAGATCGAGACCCGACGC chr2:183357196-Reference-G;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Reference G tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGTAGTGGTAGT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttGgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAagtagtggtagtAGATCGAGACCCGACGC chr2:183357196-Reference-G;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Variant A tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GACGAAGCTCGA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAgacgaagctcgaAGATCGAGACCCGACGC chr2:183357196-Variant-A;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative C tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GTGACGATAACA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAgtgacgataacaAGATCGAGACCCGACGC chr2:183357196-Alternative-C;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Variant A tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GGTTGACCTACG CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAggttgacctacgAGATCGAGACCCGACGC chr2:183357196-Variant-A;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative C tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GCACGCCATCTA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAgcacgccatctaAGATCGAGACCCGACGC chr2:183357196-Alternative-C;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Variant A tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AATGGTGTACGT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAaatggtgtacgtAGATCGAGACCCGACGC chr2:183357196-Variant-A;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative C tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GTGCCTCTTCGA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAgtgcctcttcgaAGATCGAGACCCGACGC chr2:183357196-Alternative-C;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Variant A tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct ATAACGCGTAAC CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAataacgcgtaacAGATCGAGACCCGACGC chr2:183357196-Variant-A;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Alternative C tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct AGCCTTGTCATA CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttCgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAagccttgtcataAGATCGAGACCCGACGC chr2:183357196-Alternative-C;Patient-10 chr2:183357196-GA DeNovo Patient-10 intronic PDE1A NA 4.95e-05 0.19 5.74 2.45 PDE1A 30375 Variant A tttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattct GTACGCAACACT CGACGCGGTCTCTCTCTtttgtgaatgagtgaactgatggatgataaatggatctctttatacttttAgctttcaaatctaaacatcacataaaatttttagtaatagcaagattctAGAGGGAGACGGACGTCTCAATAAgtacgcaacactAGATCGAGACCCGACGC chr2:183357196-Variant-A;Patient-10 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative C aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgagga GTGTCTCGTGCT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAgtgtctcgtgctAGATCGAGACCCGACGC chr2:190631837-Alternative-C;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative C aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgagga CGCACTAAGATT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcgcactaagattAGATCGAGACCCGACGC chr2:190631837-Alternative-C;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative C aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgagga CTCGGTTAACCT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAActcggttaacctAGATCGAGACCCGACGC chr2:190631837-Alternative-C;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative C aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgagga CAACTCCGAGCA CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcaactccgagcaAGATCGAGACCCGACGC chr2:190631837-Alternative-C;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative T aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgagga CACGGTCGAGTT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcacggtcgagttAGATCGAGACCCGACGC chr2:190631837-Alternative-T;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Variant A aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgagga GTACTTGCTAAC CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAgtacttgctaacAGATCGAGACCCGACGC chr2:190631837-Variant-A;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative C aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgagga GACGCTCGGTAT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgCgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAgacgctcggtatAGATCGAGACCCGACGC chr2:190631837-Alternative-C;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative T aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgagga AGCAGTTCGCAC CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAagcagttcgcacAGATCGAGACCCGACGC chr2:190631837-Alternative-T;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Reference G aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgagga AACAGCTCGCAC CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAaacagctcgcacAGATCGAGACCCGACGC chr2:190631837-Reference-G;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative T aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgagga CGTGTAATCGAT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcgtgtaatcgatAGATCGAGACCCGACGC chr2:190631837-Alternative-T;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative T aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgagga CAGTAAGCACCT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcagtaagcacctAGATCGAGACCCGACGC chr2:190631837-Alternative-T;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Variant A aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgagga CGCACGACATGA CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcgcacgacatgaAGATCGAGACCCGACGC chr2:190631837-Variant-A;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Alternative T aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgagga CATGCTCTTAGT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgTgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcatgctcttagtAGATCGAGACCCGACGC chr2:190631837-Alternative-T;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Variant A aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgagga CTCGCAACTAAT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAActcgcaactaatAGATCGAGACCCGACGC chr2:190631837-Variant-A;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Variant A aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgagga CACGATCGCATA CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcacgatcgcataAGATCGAGACCCGACGC chr2:190631837-Variant-A;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Reference G aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgagga CATTGATCAGGT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcattgatcaggtAGATCGAGACCCGACGC chr2:190631837-Reference-G;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Reference G aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgagga CAGAGCGTACGA CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcagagcgtacgaAGATCGAGACCCGACGC chr2:190631837-Reference-G;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Reference G aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgagga CGGTGAACTCCT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAcggtgaactcctAGATCGAGACCCGACGC chr2:190631837-Reference-G;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Variant A aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgagga ATTACCTGACCT CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgAgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAattacctgacctAGATCGAGACCCGACGC chr2:190631837-Variant-A;Patient-9 chr2:190631837-GA DeNovo Patient-9 intergenic NA 0.000513 -0.1 1.36 0.63 OSGEPL1 3912 Reference G aacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgagga AAGGTTCTGAGA CGACGCGGTCTCTCTCTaacatagatgtacaaattatctgtccaagttcctgcttttacttcttttgGgtatatacccggaagtggaattgctggatataattttaatttttgaggaAGAGGGAGACGGACGTCTCAATAAaaggttctgagaAGATCGAGACCCGACGC chr2:190631837-Reference-G;Patient-9 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative C gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CGTTGGCGCAAT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAcgttggcgcaatAGATCGAGACCCGACGC chr2:190659876-Alternative-C;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative C gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GACCACGTGGAA CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAgaccacgtggaaAGATCGAGACCCGACGC chr2:190659876-Alternative-C;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Variant A gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CGATGCAGGTTC CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAcgatgcaggttcAGATCGAGACCCGACGC chr2:190659876-Variant-A;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative C gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GCCGATGACTTC CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAgccgatgacttcAGATCGAGACCCGACGC chr2:190659876-Alternative-C;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative C gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CGCTCACGGATT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAcgctcacggattAGATCGAGACCCGACGC chr2:190659876-Alternative-C;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative C gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GATAACGCAAGT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatCtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAgataacgcaagtAGATCGAGACCCGACGC chr2:190659876-Alternative-C;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Variant A gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt AAGGACATAGCG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAaaggacatagcgAGATCGAGACCCGACGC chr2:190659876-Variant-A;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Variant A gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CTAATCTCGCGG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAActaatctcgcggAGATCGAGACCCGACGC chr2:190659876-Variant-A;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Variant A gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt ACTGGCAATAAG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAactggcaataagAGATCGAGACCCGACGC chr2:190659876-Variant-A;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Variant A gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CTAATCGTTCAC CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatAtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAActaatcgttcacAGATCGAGACCCGACGC chr2:190659876-Variant-A;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative T gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GGCTACCTGCAA CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAggctacctgcaaAGATCGAGACCCGACGC chr2:190659876-Alternative-T;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative T gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt AGAGTCTCTCGG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAagagtctctcggAGATCGAGACCCGACGC chr2:190659876-Alternative-T;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative T gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt AGTAAGGATAGG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAagtaaggataggAGATCGAGACCCGACGC chr2:190659876-Alternative-T;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative T gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CACGTGTCGCTT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAcacgtgtcgcttAGATCGAGACCCGACGC chr2:190659876-Alternative-T;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Reference G gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GCAGGTAACACG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAgcaggtaacacgAGATCGAGACCCGACGC chr2:190659876-Reference-G;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Reference G gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt CGGATAGCGGTT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAcggatagcggttAGATCGAGACCCGACGC chr2:190659876-Reference-G;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Reference G gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt ACCTGTCCTAAT CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAacctgtcctaatAGATCGAGACCCGACGC chr2:190659876-Reference-G;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Alternative T gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt ACAGATACTACG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatTtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAacagatactacgAGATCGAGACCCGACGC chr2:190659876-Alternative-T;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Reference G gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GAGATCTGTGCG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAgagatctgtgcgAGATCGAGACCCGACGC chr2:190659876-Reference-G;Patient-25 chr2:190659876-GA Inherited Patient-25 intronic PMS1 3.2e-05 4.95e-05 -0.15 1.01 -1.97 PMS1 11064 Reference G gtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagattt GGCGTCAATGAG CGACGCGGTCTCTCTCTgtcttgattttttttcaaattaaaaacttactgtggttgctaaattagatGtgttttctcagcagtttcctgttagatggctgtttgcagaaaaagatttAGAGGGAGACGGACGTCTCAATAAggcgtcaatgagAGATCGAGACCCGACGC chr2:190659876-Reference-G;Patient-25 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Reference T gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CTCTACACGCCT CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAActctacacgcctAGATCGAGACCCGACGC chr2:190744217-Reference-T;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Reference T gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta ACGAACCGAACG CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAacgaaccgaacgAGATCGAGACCCGACGC chr2:190744217-Reference-T;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Reference T gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta GCGCGGTCAATA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAgcgcggtcaataAGATCGAGACCCGACGC chr2:190744217-Reference-T;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Reference T gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta GTGATACTGACA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAgtgatactgacaAGATCGAGACCCGACGC chr2:190744217-Reference-T;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Reference T gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CGGTATGCATCG CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcTagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAcggtatgcatcgAGATCGAGACCCGACGC chr2:190744217-Reference-T;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative G gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta AGTAGATGCGAA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAagtagatgcgaaAGATCGAGACCCGACGC chr2:190744217-Alternative-G;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative G gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta AGTTGGTATTGC CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAagttggtattgcAGATCGAGACCCGACGC chr2:190744217-Alternative-G;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative G gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta AACTAGCCGATT CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAaactagccgattAGATCGAGACCCGACGC chr2:190744217-Alternative-G;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative A gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CTTAGGCGGTCA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAActtaggcggtcaAGATCGAGACCCGACGC chr2:190744217-Alternative-A;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative G gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta ACTTGTACGCGG CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAacttgtacgcggAGATCGAGACCCGACGC chr2:190744217-Alternative-G;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative G gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta AGTGGCCGGTAT CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcGagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAagtggccggtatAGATCGAGACCCGACGC chr2:190744217-Alternative-G;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative A gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CGGCATTAGTAT CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAcggcattagtatAGATCGAGACCCGACGC chr2:190744217-Alternative-A;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative A gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CGGACATTGCGA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAcggacattgcgaAGATCGAGACCCGACGC chr2:190744217-Alternative-A;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative A gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta GAAGTTGGTCTT CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAgaagttggtcttAGATCGAGACCCGACGC chr2:190744217-Alternative-A;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Alternative A gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta GCATCTTCCTGG CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcAagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAgcatcttcctggAGATCGAGACCCGACGC chr2:190744217-Alternative-A;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Variant C gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta GCGATCGAAGTC CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAgcgatcgaagtcAGATCGAGACCCGACGC chr2:190744217-Variant-C;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Variant C gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta AGAGCACGCAAG CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAagagcacgcaagAGATCGAGACCCGACGC chr2:190744217-Variant-C;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Variant C gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta CTATGCGTATAC CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAActatgcgtatacAGATCGAGACCCGACGC chr2:190744217-Variant-C;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Variant C gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta ATAGGTACACGA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAataggtacacgaAGATCGAGACCCGACGC chr2:190744217-Variant-C;Patient-79 chr2:190744217-TC DeNovo Patient-79 intergenic NA 0.000513 -0.09 1.5 0.28 PMS1 95405 Variant C gactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagccta ACGCTACTACTA CGACGCGGTCTCTCTCTgactggagtagcagactggcgtgaacaggaatgggcttcaggtgagggtcCagcgttgccccacggaccaatcctggttgacgaggctaagggaagcctaAGAGGGAGACGGACGTCTCAATAAacgctactactaAGATCGAGACCCGACGC chr2:190744217-Variant-C;Patient-79 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative C aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GACCTTGCGGAA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgaccttgcggaaAGATCGAGACCCGACGC chr2:191148378-Alternative-C;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative C aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GTGACGTTGACC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgtgacgttgaccAGATCGAGACCCGACGC chr2:191148378-Alternative-C;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative C aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GGCAGTTAACCA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAggcagttaaccaAGATCGAGACCCGACGC chr2:191148378-Alternative-C;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Variant G aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GCGATTAGTAGA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgcgattagtagaAGATCGAGACCCGACGC chr2:191148378-Variant-G;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative C aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaa CACGTAGATCTA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAcacgtagatctaAGATCGAGACCCGACGC chr2:191148378-Alternative-C;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Variant G aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ATCCGCTAATGA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAatccgctaatgaAGATCGAGACCCGACGC chr2:191148378-Variant-G;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative C aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ACTTAGGTCTTC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaCccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAacttaggtcttcAGATCGAGACCCGACGC chr2:191148378-Alternative-C;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Variant G aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaa AAGGAACGTGCG CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAaaggaacgtgcgAGATCGAGACCCGACGC chr2:191148378-Variant-G;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Variant G aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GCGATGCTTGTC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgcgatgcttgtcAGATCGAGACCCGACGC chr2:191148378-Variant-G;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Reference T aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaa AGCACGACGTAT CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAagcacgacgtatAGATCGAGACCCGACGC chr2:191148378-Reference-T;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative A aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GAATTACCACCA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgaattaccaccaAGATCGAGACCCGACGC chr2:191148378-Alternative-A;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Variant G aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaa CTACGTATGTGA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaGccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAActacgtatgtgaAGATCGAGACCCGACGC chr2:191148378-Variant-G;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Reference T aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ATTCTGCGACTT CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAattctgcgacttAGATCGAGACCCGACGC chr2:191148378-Reference-T;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Reference T aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ATTCGACATCGT CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAattcgacatcgtAGATCGAGACCCGACGC chr2:191148378-Reference-T;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Reference T aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ACCACACCGAAC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAaccacaccgaacAGATCGAGACCCGACGC chr2:191148378-Reference-T;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Reference T aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaa CTCGTCACCTTC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaTccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAActcgtcaccttcAGATCGAGACCCGACGC chr2:191148378-Reference-T;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative A aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GAATCAGCGCGA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgaatcagcgcgaAGATCGAGACCCGACGC chr2:191148378-Alternative-A;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative A aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GTGATCGGTAGG CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgtgatcggtaggAGATCGAGACCCGACGC chr2:191148378-Alternative-A;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative A aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaa GACGTTATAGTC CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAgacgttatagtcAGATCGAGACCCGACGC chr2:191148378-Alternative-A;Patient-7 chr2:191148378-TG DeNovo Patient-7 intronic HIBCH NA 4.19e-05 0.31 7.35 0.24 HIBCH 36392 Alternative A aaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaa ATTCTGCCGGCA CGACGCGGTCTCTCTCTaaaatccaaaacactcctcgtcctaagcatttcagacaagagatgctcaaAccataatatttatggctattaaaaaagagggaagaacttcagtctttaaAGAGGGAGACGGACGTCTCAATAAattctgccggcaAGATCGAGACCCGACGC chr2:191148378-Alternative-A;Patient-7 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative A tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga AGTCGACGCGAT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAagtcgacgcgatAGATCGAGACCCGACGC chr2:191708224-Alternative-A;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative A tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CGAATATCGACC CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcgaatatcgaccAGATCGAGACCCGACGC chr2:191708224-Alternative-A;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Variant T tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga AATGAGGATCGT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAaatgaggatcgtAGATCGAGACCCGACGC chr2:191708224-Variant-T;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Variant T tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CGCAAGATGAAC CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcgcaagatgaacAGATCGAGACCCGACGC chr2:191708224-Variant-T;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Reference C tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga AGCATATAGCGA CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAagcatatagcgaAGATCGAGACCCGACGC chr2:191708224-Reference-C;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Reference C tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CATAACTCTAGG CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcataactctaggAGATCGAGACCCGACGC chr2:191708224-Reference-C;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Reference C tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga ACTGTGTTCGCG CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAactgtgttcgcgAGATCGAGACCCGACGC chr2:191708224-Reference-C;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative A tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga ACCGAAGACGAT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAaccgaagacgatAGATCGAGACCCGACGC chr2:191708224-Alternative-A;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative A tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga AACGTTCCGGCA CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAaacgttccggcaAGATCGAGACCCGACGC chr2:191708224-Alternative-A;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative A tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga ACGACGAGATAT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggAagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAacgacgagatatAGATCGAGACCCGACGC chr2:191708224-Alternative-A;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Variant T tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CGATACGCAAGT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcgatacgcaagtAGATCGAGACCCGACGC chr2:191708224-Variant-T;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Variant T tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga ATCGCGAGCCAA CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAatcgcgagccaaAGATCGAGACCCGACGC chr2:191708224-Variant-T;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative G tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga ACTTAGGCCGCT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAacttaggccgctAGATCGAGACCCGACGC chr2:191708224-Alternative-G;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative G tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CTAACTGCGATT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAActaactgcgattAGATCGAGACCCGACGC chr2:191708224-Alternative-G;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Reference C tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga GGCTGTCATGGT CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAggctgtcatggtAGATCGAGACCCGACGC chr2:191708224-Reference-C;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Reference C tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CGATCCACGAAG CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggCagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcgatccacgaagAGATCGAGACCCGACGC chr2:191708224-Reference-C;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative G tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga GTACAAGTAACG CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAgtacaagtaacgAGATCGAGACCCGACGC chr2:191708224-Alternative-G;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative G tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga CGTAGGCTTGAC CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAcgtaggcttgacAGATCGAGACCCGACGC chr2:191708224-Alternative-G;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Alternative G tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga GAGCTCGGTAAC CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggGagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAgagctcggtaacAGATCGAGACCCGACGC chr2:191708224-Alternative-G;Patient-25 chr2:191708224-CT DeNovo Patient-25 intergenic NA 0.000513 -0.31 0.35 -0.84 GLS 37322 Variant T tcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtga AACACGCTTGCG CGACGCGGTCTCTCTCTtcccaggtactcaggaggctgaggcaggagaactgcttgaacccgggaggTagaggttgcagtgagctgagatggcgccactgcacaccagcctgggtgaAGAGGGAGACGGACGTCTCAATAAaacacgcttgcgAGATCGAGACCCGACGC chr2:191708224-Variant-T;Patient-25 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Reference G agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GTGATGAGTCGG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgtgatgagtcggAGATCGAGACCCGACGC chr2:192109948-Reference-G;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Reference G agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CGGCTATATCTT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAcggctatatcttAGATCGAGACCCGACGC chr2:192109948-Reference-G;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Reference G agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GATGCCTCATAA CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgatgcctcataaAGATCGAGACCCGACGC chr2:192109948-Reference-G;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Reference G agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CATGTTATTGCG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAcatgttattgcgAGATCGAGACCCGACGC chr2:192109948-Reference-G;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative T agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg ATTAATGTCGGC CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAattaatgtcggcAGATCGAGACCCGACGC chr2:192109948-Alternative-T;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Reference G agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg AAGTCGGCAGGT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccGgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAaagtcggcaggtAGATCGAGACCCGACGC chr2:192109948-Reference-G;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative T agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg ATATGCGCATTC CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAatatgcgcattcAGATCGAGACCCGACGC chr2:192109948-Alternative-T;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative T agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg AGAGCAGTATCA CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAagagcagtatcaAGATCGAGACCCGACGC chr2:192109948-Alternative-T;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Variant A agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GTCGGCGTAGAA CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgtcggcgtagaaAGATCGAGACCCGACGC chr2:192109948-Variant-A;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative T agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CAACGCTCATAA CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAcaacgctcataaAGATCGAGACCCGACGC chr2:192109948-Alternative-T;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative T agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg AGTTACAACGCT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccTgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAagttacaacgctAGATCGAGACCCGACGC chr2:192109948-Alternative-T;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative C agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GTGATAGTAACG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgtgatagtaacgAGATCGAGACCCGACGC chr2:192109948-Alternative-C;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative C agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CTATTCGCACTA CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAActattcgcactaAGATCGAGACCCGACGC chr2:192109948-Alternative-C;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative C agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg ACAACGTACGGT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAacaacgtacggtAGATCGAGACCCGACGC chr2:192109948-Alternative-C;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Variant A agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GATAGAACGCAG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgatagaacgcagAGATCGAGACCCGACGC chr2:192109948-Variant-A;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative C agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CTGCTGTCATAT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAActgctgtcatatAGATCGAGACCCGACGC chr2:192109948-Alternative-C;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Alternative C agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg CTAGTCAGACGG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccCgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAActagtcagacggAGATCGAGACCCGACGC chr2:192109948-Alternative-C;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Variant A agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GTGTATGTGCGC CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgtgtatgtgcgcAGATCGAGACCCGACGC chr2:192109948-Variant-A;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Variant A agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg ATTATCCGTGCG CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAattatccgtgcgAGATCGAGACCCGACGC chr2:192109948-Variant-A;Patient-20 chr2:192109948-GA DeNovo Patient-20 intergenic NA 0.00016 2 19.22 -0.54 STAT4 93625 Variant A agggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcgg GACGGCTTAATT CGACGCGGTCTCTCTCTagggtcgggccgcaaacccgcaaggcgcggaggccgccgcgacgctcaccAgggggcgctgtgaagccggcaccgggcggacagaggtgagtcggctcggAGAGGGAGACGGACGTCTCAATAAgacggcttaattAGATCGAGACCCGACGC chr2:192109948-Variant-A;Patient-20 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Reference G cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg ACTGTGCGCATA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAactgtgcgcataAGATCGAGACCCGACGC chr2:192166518-Reference-G;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Variant T cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CATCCAACCTAT CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAcatccaacctatAGATCGAGACCCGACGC chr2:192166518-Variant-T;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Reference G cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg ATCGCATCGCGT CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAatcgcatcgcgtAGATCGAGACCCGACGC chr2:192166518-Reference-G;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Reference G cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg AGCCTGATAGAA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAagcctgatagaaAGATCGAGACCCGACGC chr2:192166518-Reference-G;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative A cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg AATGGAACGTCC CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAaatggaacgtccAGATCGAGACCCGACGC chr2:192166518-Alternative-A;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative A cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CGACCGACAGTT CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAcgaccgacagttAGATCGAGACCCGACGC chr2:192166518-Alternative-A;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Reference G cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CTGCGAACTCCT CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAActgcgaactcctAGATCGAGACCCGACGC chr2:192166518-Reference-G;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Reference G cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GGACCTACATTA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaGttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAggacctacattaAGATCGAGACCCGACGC chr2:192166518-Reference-G;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative A cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg AGACCGTCATTA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAagaccgtcattaAGATCGAGACCCGACGC chr2:192166518-Alternative-A;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative C cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GTCATGGATTCA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAgtcatggattcaAGATCGAGACCCGACGC chr2:192166518-Alternative-C;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Variant T cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GCGCTACAAGCA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAgcgctacaagcaAGATCGAGACCCGACGC chr2:192166518-Variant-T;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative A cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CATCAAGACCAT CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAcatcaagaccatAGATCGAGACCCGACGC chr2:192166518-Alternative-A;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Variant T cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CAAGCAACTGCG CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAcaagcaactgcgAGATCGAGACCCGACGC chr2:192166518-Variant-T;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Variant T cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg AATGTTGGTACG CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAaatgttggtacgAGATCGAGACCCGACGC chr2:192166518-Variant-T;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Variant T cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg ATCTCGATACGC CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaTttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAatctcgatacgcAGATCGAGACCCGACGC chr2:192166518-Variant-T;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative C cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg ATCGCGTCCTGA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAatcgcgtcctgaAGATCGAGACCCGACGC chr2:192166518-Alternative-C;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative A cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg CTAGCCAATCGG CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaAttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAActagccaatcggAGATCGAGACCCGACGC chr2:192166518-Alternative-A;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative C cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GTGACCGGCTAA CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAgtgaccggctaaAGATCGAGACCCGACGC chr2:192166518-Alternative-C;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative C cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GTTAGCCTTAAC CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAgttagccttaacAGATCGAGACCCGACGC chr2:192166518-Alternative-C;Patient-49 chr2:192166518-GT DeNovo Patient-49 intronic MYO1B 0.000223 4.95e-05 0.21 6.03 -1.13 MYO1B 56410 Alternative C cttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttg GTTCCACGTTCG CGACGCGGTCTCTCTCTcttccacttagttgcaatagcactgtgacagtgcaccttcagatattttaCttaccaaatccactggccttttgtgttgggtgattgccttttaaccttgAGAGGGAGACGGACGTCTCAATAAgttccacgttcgAGATCGAGACCCGACGC chr2:192166518-Alternative-C;Patient-49 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative C actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt AACAGCTGTAGA CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAaacagctgtagaAGATCGAGACCCGACGC chr2:19562925-Alternative-C;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative C actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt CGCATACCGGTT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAcgcataccggttAGATCGAGACCCGACGC chr2:19562925-Alternative-C;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative C actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GAGTGCTATACG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgagtgctatacgAGATCGAGACCCGACGC chr2:19562925-Alternative-C;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative C actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTAGGTACACAC CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgtaggtacacacAGATCGAGACCCGACGC chr2:19562925-Alternative-C;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative C actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GGCGTCAACGTT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctCaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAggcgtcaacgttAGATCGAGACCCGACGC chr2:19562925-Alternative-C;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Reference A actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt AGCTTACATCGT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAagcttacatcgtAGATCGAGACCCGACGC chr2:19562925-Reference-A;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Reference A actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt ACTTAGTGGCCG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAacttagtggccgAGATCGAGACCCGACGC chr2:19562925-Reference-A;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Variant G actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt ACTACACGTCCT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAactacacgtcctAGATCGAGACCCGACGC chr2:19562925-Variant-G;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Variant G actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTTGTGAGGTGG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgttgtgaggtggAGATCGAGACCCGACGC chr2:19562925-Variant-G;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Variant G actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GAATCGAATGCA CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgaatcgaatgcaAGATCGAGACCCGACGC chr2:19562925-Variant-G;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Reference A actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt ACCTGGTATCGC CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAacctggtatcgcAGATCGAGACCCGACGC chr2:19562925-Reference-A;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative T actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTTCATTCTACG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgttcattctacgAGATCGAGACCCGACGC chr2:19562925-Alternative-T;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Variant G actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt CTAGGCCGGATA CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAActaggccggataAGATCGAGACCCGACGC chr2:19562925-Variant-G;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative T actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTCAGACGTCGT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgtcagacgtcgtAGATCGAGACCCGACGC chr2:19562925-Alternative-T;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Variant G actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt CGATACGAACCG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctGaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAcgatacgaaccgAGATCGAGACCCGACGC chr2:19562925-Variant-G;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Reference A actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTTATGAGCCGC CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgttatgagccgcAGATCGAGACCCGACGC chr2:19562925-Reference-A;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Reference A actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt CAACCGTTGTGG CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctAaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAcaaccgttgtggAGATCGAGACCCGACGC chr2:19562925-Reference-A;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative T actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt AGACGTTCACGT CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAagacgttcacgtAGATCGAGACCCGACGC chr2:19562925-Alternative-T;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative T actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GGTTACTACGAC CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAggttactacgacAGATCGAGACCCGACGC chr2:19562925-Alternative-T;Patient-60 chr2:19562925-AG Inherited Patient-60 intergenic 3.2e-05 0.00154 NA NA NA OSR1 4552 Alternative T actcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggacccctt GTTCTAGAACAC CGACGCGGTCTCTCTCTactcggagagagtccggctgcgaggtttcgagattctgggacgcaatcctTaagaaaacgtgccccctgctggcgagcaagccacatctcgggaccccttAGAGGGAGACGGACGTCTCAATAAgttctagaacacAGATCGAGACCCGACGC chr2:19562925-Alternative-T;Patient-60 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Variant A cccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt CTCGTGAGACAC CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAActcgtgagacacAGATCGAGACCCGACGC chr2:196513016-Variant-A;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative T cccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GCATACTCGATA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgcatactcgataAGATCGAGACCCGACGC chr2:196513016-Alternative-T;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Variant A cccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt AACGTCCAAGAA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAaacgtccaagaaAGATCGAGACCCGACGC chr2:196513016-Variant-A;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative T cccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt ATAGTACGCGTT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAatagtacgcgttAGATCGAGACCCGACGC chr2:196513016-Alternative-T;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Variant A cccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt CAAGCTACTACA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAcaagctactacaAGATCGAGACCCGACGC chr2:196513016-Variant-A;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Variant A cccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt AAGCGGATCGGT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAaagcggatcggtAGATCGAGACCCGACGC chr2:196513016-Variant-A;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative T cccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt AGCAAGTTCCTA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAagcaagttcctaAGATCGAGACCCGACGC chr2:196513016-Alternative-T;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Variant A cccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt ACCTACAATACG CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcAgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAacctacaatacgAGATCGAGACCCGACGC chr2:196513016-Variant-A;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative C cccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt ATAGCGTCCGGT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAatagcgtccggtAGATCGAGACCCGACGC chr2:196513016-Alternative-C;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative C cccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GCGGCAATCGAT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgcggcaatcgatAGATCGAGACCCGACGC chr2:196513016-Alternative-C;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative C cccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GGAGGTCGTATT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAggaggtcgtattAGATCGAGACCCGACGC chr2:196513016-Alternative-C;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Reference G cccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GATGGAACGCTT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgatggaacgcttAGATCGAGACCCGACGC chr2:196513016-Reference-G;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Reference G cccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt CGGCATATGCGT CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAcggcatatgcgtAGATCGAGACCCGACGC chr2:196513016-Reference-G;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative T cccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GTACAGTCGTGC CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgtacagtcgtgcAGATCGAGACCCGACGC chr2:196513016-Alternative-T;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative C cccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt ACGCATCGGACA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAacgcatcggacaAGATCGAGACCCGACGC chr2:196513016-Alternative-C;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative C cccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt CATAGCTCAAGG CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcCgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAcatagctcaaggAGATCGAGACCCGACGC chr2:196513016-Alternative-C;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Alternative T cccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt CTTAAGTCGTGA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcTgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAActtaagtcgtgaAGATCGAGACCCGACGC chr2:196513016-Alternative-T;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Reference G cccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GACCTAGCGTGA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgacctagcgtgaAGATCGAGACCCGACGC chr2:196513016-Reference-G;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Reference G cccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GCATCGTCTATA CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgcatcgtctataAGATCGAGACCCGACGC chr2:196513016-Reference-G;Patient-37 chr2:196513016-GA DeNovo Patient-37 intergenic NA 0.000513 -0.36 0.24 -0.32 SLC39A10 8515 Reference G cccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactattttt GACATTCTAACG CGACGCGGTCTCTCTCTcccatcttggcctccgcctatgctggaattataggtgagctactgaactcGgcccttatctggcttcttatatcaagactgtgcacaggtcactatttttAGAGGGAGACGGACGTCTCAATAAgacattctaacgAGATCGAGACCCGACGC chr2:196513016-Reference-G;Patient-37 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative A gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact CTTATGCAGCAA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAActtatgcagcaaAGATCGAGACCCGACGC chr2:197440566-Alternative-A;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Reference C gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GGTCGTGCTTCT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAggtcgtgcttctAGATCGAGACCCGACGC chr2:197440566-Reference-C;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Reference C gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact AACCGCATGACG CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAaaccgcatgacgAGATCGAGACCCGACGC chr2:197440566-Reference-C;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative A gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GACGTCGTATTA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgacgtcgtattaAGATCGAGACCCGACGC chr2:197440566-Alternative-A;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative A gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GGTGATTACGCA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAggtgattacgcaAGATCGAGACCCGACGC chr2:197440566-Alternative-A;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Reference C gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GTAATTCTACGC CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgtaattctacgcAGATCGAGACCCGACGC chr2:197440566-Reference-C;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative A gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GTCAAGTGTCAC CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgtcaagtgtcacAGATCGAGACCCGACGC chr2:197440566-Alternative-A;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Variant T gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GATCCATTACGC CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgatccattacgcAGATCGAGACCCGACGC chr2:197440566-Variant-T;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative A gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact AATCATAGGTGG CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcAaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAaatcataggtggAGATCGAGACCCGACGC chr2:197440566-Alternative-A;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Reference C gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact ACTCGCGAATTA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAactcgcgaattaAGATCGAGACCCGACGC chr2:197440566-Reference-C;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Reference C gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GTACGACGTCCA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcCaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgtacgacgtccaAGATCGAGACCCGACGC chr2:197440566-Reference-C;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Variant T gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact CTTAATGACGGT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAActtaatgacggtAGATCGAGACCCGACGC chr2:197440566-Variant-T;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative G gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact ACGCATTGAGAA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAacgcattgagaaAGATCGAGACCCGACGC chr2:197440566-Alternative-G;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative G gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GAGAGTCACCTT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgagagtcaccttAGATCGAGACCCGACGC chr2:197440566-Alternative-G;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Variant T gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GTACGAGTTGTT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgtacgagttgttAGATCGAGACCCGACGC chr2:197440566-Variant-T;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative G gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact ACTTACCGCATT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAacttaccgcattAGATCGAGACCCGACGC chr2:197440566-Alternative-G;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Variant T gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact CGAACTCGCGAA CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAcgaactcgcgaaAGATCGAGACCCGACGC chr2:197440566-Variant-T;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative G gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact CGTTCGCTCGAT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAcgttcgctcgatAGATCGAGACCCGACGC chr2:197440566-Alternative-G;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Alternative G gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact CAGGCTTGATGC CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcGaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAcaggcttgatgcAGATCGAGACCCGACGC chr2:197440566-Alternative-G;Patient-21 chr2:197440566-CT DeNovo Patient-21 intronic HECW2 NA 0.00016 -0.06 1.78 -0.3 HECW2 16768 Variant T gctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataact GTAAGCTGACTT CGACGCGGTCTCTCTCTgctaagcaggagcaggcgtgtcacatggcaagaggaagcaagagagctgcTaagctcttttaaacaaccacctcttgcatgaactaacagagcaataactAGAGGGAGACGGACGTCTCAATAAgtaagctgacttAGATCGAGACCCGACGC chr2:197440566-Variant-T;Patient-21 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Variant G attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc AATCGCACCGTC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAaatcgcaccgtcAGATCGAGACCCGACGC chr2:198237359-Variant-G;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative C attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc AGATTGCGACCT CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAagattgcgacctAGATCGAGACCCGACGC chr2:198237359-Alternative-C;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Variant G attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CTCTAATTGACC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAActctaattgaccAGATCGAGACCCGACGC chr2:198237359-Variant-G;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative C attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CGTGGTGGAATC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcgtggtggaatcAGATCGAGACCCGACGC chr2:198237359-Alternative-C;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative T attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CATGACTTCGGC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcatgacttcggcAGATCGAGACCCGACGC chr2:198237359-Alternative-T;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative T attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GAATGGTATACG CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgaatggtatacgAGATCGAGACCCGACGC chr2:198237359-Alternative-T;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative T attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GGCTCGTTGTTC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAggctcgttgttcAGATCGAGACCCGACGC chr2:198237359-Alternative-T;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative T attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc AGTGGCTACATA CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAagtggctacataAGATCGAGACCCGACGC chr2:198237359-Alternative-T;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Variant G attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CGCTAACTTGAA CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcgctaacttgaaAGATCGAGACCCGACGC chr2:198237359-Variant-G;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Variant G attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GTCGTATTCCTA CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgtcgtattcctaAGATCGAGACCCGACGC chr2:198237359-Variant-G;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Variant G attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GCCAATAGTACC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccGgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgccaatagtaccAGATCGAGACCCGACGC chr2:198237359-Variant-G;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative C attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CGCCGTGTTAAC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcgccgtgttaacAGATCGAGACCCGACGC chr2:198237359-Alternative-C;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative C attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GTGCTTCTTGAT CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgtgcttcttgatAGATCGAGACCCGACGC chr2:198237359-Alternative-C;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Reference A attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CGGTCACCATGT CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcggtcaccatgtAGATCGAGACCCGACGC chr2:198237359-Reference-A;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative C attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GGATAGCTACAC CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccCgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAggatagctacacAGATCGAGACCCGACGC chr2:198237359-Alternative-C;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Reference A attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GATGCTATTGCA CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgatgctattgcaAGATCGAGACCCGACGC chr2:198237359-Reference-A;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Reference A attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GAGTACGTACGG CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgagtacgtacggAGATCGAGACCCGACGC chr2:198237359-Reference-A;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Reference A attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc AGGTTCGGCGAA CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAaggttcggcgaaAGATCGAGACCCGACGC chr2:198237359-Reference-A;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Reference A attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc GCGAGTCGTCAT CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccAgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAgcgagtcgtcatAGATCGAGACCCGACGC chr2:198237359-Reference-A;Patient-45 chr2:198237359-AG Inherited Patient-45 intergenic 3.2e-05 0.000513 0.39 8.23 2.83 SF3B1 62411 Alternative T attcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctc CAAGCGCTCTGT CGACGCGGTCTCTCTCTattcaaacttttttaatgagagcatattaaaagcagcatctttttatcccTgagccactgccccccgcatttgaagccccagccctcaggaggaaacctcAGAGGGAGACGGACGTCTCAATAAcaagcgctctgtAGATCGAGACCCGACGC chr2:198237359-Alternative-T;Patient-45 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Reference G tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcct CAGGTCGTATTA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcaggtcgtattaAGATCGAGACCCGACGC chr2:198672771-Reference-G;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Reference G tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcct GAGTTACAACCG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgagttacaaccgAGATCGAGACCCGACGC chr2:198672771-Reference-G;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Reference G tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcct GTCGCAACTGGT CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgtcgcaactggtAGATCGAGACCCGACGC chr2:198672771-Reference-G;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Reference G tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcct AACAGACTCGCG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAaacagactcgcgAGATCGAGACCCGACGC chr2:198672771-Reference-G;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative T tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcct GGATGGAGATAC CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAggatggagatacAGATCGAGACCCGACGC chr2:198672771-Alternative-T;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative C tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcct GATCGCTTCATA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgatcgcttcataAGATCGAGACCCGACGC chr2:198672771-Alternative-C;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative C tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcct CGATGCGGAGAA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcgatgcggagaaAGATCGAGACCCGACGC chr2:198672771-Alternative-C;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Variant A tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcct CAAGACCTTGGT CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcaagaccttggtAGATCGAGACCCGACGC chr2:198672771-Variant-A;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Variant A tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcct CGATTCACGGCA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcgattcacggcaAGATCGAGACCCGACGC chr2:198672771-Variant-A;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Reference G tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcct GACCGACTGAAT CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaGaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgaccgactgaatAGATCGAGACCCGACGC chr2:198672771-Reference-G;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative C tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcct GTACACGTGGAG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgtacacgtggagAGATCGAGACCCGACGC chr2:198672771-Alternative-C;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative T tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcct CGTACAGAACGG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcgtacagaacggAGATCGAGACCCGACGC chr2:198672771-Alternative-T;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative C tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcct GTTATAAGCGCA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgttataagcgcaAGATCGAGACCCGACGC chr2:198672771-Alternative-C;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative T tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcct CAGCACCTATAA CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAcagcacctataaAGATCGAGACCCGACGC chr2:198672771-Alternative-T;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative T tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcct ACCAACCTTGCG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAaccaaccttgcgAGATCGAGACCCGACGC chr2:198672771-Alternative-T;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Variant A tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcct AGGCTGAATAAC CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAaggctgaataacAGATCGAGACCCGACGC chr2:198672771-Variant-A;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Variant A tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcct GACCACGTCGAT CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgaccacgtcgatAGATCGAGACCCGACGC chr2:198672771-Variant-A;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative T tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcct AGGAATACGAAG CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaTaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAaggaatacgaagAGATCGAGACCCGACGC chr2:198672771-Alternative-T;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Alternative C tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcct GCGAACATATAC CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaCaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAAgcgaacatatacAGATCGAGACCCGACGC chr2:198672771-Alternative-C;Patient-10 chr2:198672771-GA DeNovo Patient-10 intronic PLCL1 NA 4.95e-05 0.62 10.43 -0.28 PLCL1 3344 Variant A tcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcct CTCGCTTGGCTT CGACGCGGTCTCTCTCTtcttctgagctgaggaaaacaatgacaacatttatctgtatgcatcttcaAaaattctttctactgacattgtgtttcttccccacatataaccaatcctAGAGGGAGACGGACGTCTCAATAActcgcttggcttAGATCGAGACCCGACGC chr2:198672771-Variant-A;Patient-10 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Reference T tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaag AGCGTACTCTAA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAagcgtactctaaAGATCGAGACCCGACGC chr2:198745409-Reference-T;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Reference T tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaag AATGCTCGATGA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAaatgctcgatgaAGATCGAGACCCGACGC chr2:198745409-Reference-T;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative G tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GTTGGCTTAAGT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgttggcttaagtAGATCGAGACCCGACGC chr2:198745409-Alternative-G;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative G tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaag ACCGAGTTCCAA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAaccgagttccaaAGATCGAGACCCGACGC chr2:198745409-Alternative-G;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Reference T tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GACGGACGATAC CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgacggacgatacAGATCGAGACCCGACGC chr2:198745409-Reference-T;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Reference T tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CAGCTCGTGACA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcagctcgtgacaAGATCGAGACCCGACGC chr2:198745409-Reference-T;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative C tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CGTGAATACGTT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcgtgaatacgttAGATCGAGACCCGACGC chr2:198745409-Alternative-C;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative G tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CACAGACGGTCT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcacagacggtctAGATCGAGACCCGACGC chr2:198745409-Alternative-G;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Reference T tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GTCTAGTCGATA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagTggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgtctagtcgataAGATCGAGACCCGACGC chr2:198745409-Reference-T;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative G tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CGCGAGTAACCA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcgcgagtaaccaAGATCGAGACCCGACGC chr2:198745409-Alternative-G;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative C tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GCGTTCATATAC CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgcgttcatatacAGATCGAGACCCGACGC chr2:198745409-Alternative-C;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative G tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GGTGAATTGCTT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagGggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAggtgaattgcttAGATCGAGACCCGACGC chr2:198745409-Alternative-G;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Variant A tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CACGTGCATTAA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcacgtgcattaaAGATCGAGACCCGACGC chr2:198745409-Variant-A;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Variant A tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GTAGGTATCGTT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgtaggtatcgttAGATCGAGACCCGACGC chr2:198745409-Variant-A;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Variant A tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaag ACCGTATCTGTT CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAaccgtatctgttAGATCGAGACCCGACGC chr2:198745409-Variant-A;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative C tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CAACCTAACGAG CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcaacctaacgagAGATCGAGACCCGACGC chr2:198745409-Alternative-C;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative C tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GATTCGTCGGCA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgattcgtcggcaAGATCGAGACCCGACGC chr2:198745409-Alternative-C;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Variant A tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaag GTACGAGCGCAA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAgtacgagcgcaaAGATCGAGACCCGACGC chr2:198745409-Variant-A;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Alternative C tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaag AGACGGTCCTAC CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagCggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAagacggtcctacAGATCGAGACCCGACGC chr2:198745409-Alternative-C;Patient-91 chr2:198745409-TA Inherited Patient-91 intronic PLCL1 0.000351 9.9e-05 -0.08 1.61 -0.62 PLCL1 75982 Variant A tctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaag CATCATTGCGAA CGACGCGGTCTCTCTCTtctagcacatctagagtctagaatgaacaacattatgtataggagaaaagAggaatatttatagttttttgttttttaaagagatgaaatctcactgaagAGAGGGAGACGGACGTCTCAATAAcatcattgcgaaAGATCGAGACCCGACGC chr2:198745409-Variant-A;Patient-91 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Reference G catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CGGTGAATCAAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcggtgaatcaatAGATCGAGACCCGACGC chr2:200261507-Reference-G;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Reference G catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatct AATGTTCCGTCT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAaatgttccgtctAGATCGAGACCCGACGC chr2:200261507-Reference-G;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Reference G catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatct AGGTATTCTGCA CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAaggtattctgcaAGATCGAGACCCGACGC chr2:200261507-Reference-G;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative T catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatct ACCGTCGTGTTC CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAaccgtcgtgttcAGATCGAGACCCGACGC chr2:200261507-Alternative-T;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative T catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CGTAGGATCGAG CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcgtaggatcgagAGATCGAGACCCGACGC chr2:200261507-Alternative-T;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Reference G catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CTGAGTAGTAAG CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAActgagtagtaagAGATCGAGACCCGACGC chr2:200261507-Reference-G;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative T catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatct AGTGCCGTTCCA CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAagtgccgttccaAGATCGAGACCCGACGC chr2:200261507-Alternative-T;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Variant A catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatct ACGAGCCACGTT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAacgagccacgttAGATCGAGACCCGACGC chr2:200261507-Variant-A;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Variant A catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatct ATAAGGCCATGA CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAataaggccatgaAGATCGAGACCCGACGC chr2:200261507-Variant-A;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Variant A catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatct GACATTATGCCA CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAgacattatgccaAGATCGAGACCCGACGC chr2:200261507-Variant-A;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative T catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CGCGGTCATGTT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcgcggtcatgttAGATCGAGACCCGACGC chr2:200261507-Alternative-T;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Variant A catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatct GACGCGGTGAAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAgacgcggtgaatAGATCGAGACCCGACGC chr2:200261507-Variant-A;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Variant A catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatct GCGCGACAGTAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacAgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAgcgcgacagtatAGATCGAGACCCGACGC chr2:200261507-Variant-A;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative T catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CAGTTGTTGGAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacTgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcagttgttggatAGATCGAGACCCGACGC chr2:200261507-Alternative-T;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative C catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatct AAGTCGGCATAA CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAaagtcggcataaAGATCGAGACCCGACGC chr2:200261507-Alternative-C;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative C catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatct GCGGAGCATGTT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAgcggagcatgttAGATCGAGACCCGACGC chr2:200261507-Alternative-C;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Reference G catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CAGCTAAGACAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacGgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcagctaagacatAGATCGAGACCCGACGC chr2:200261507-Reference-G;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative C catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CACGATCCTTAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcacgatccttatAGATCGAGACCCGACGC chr2:200261507-Alternative-C;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative C catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatct GGTCGTAGCCAT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAggtcgtagccatAGATCGAGACCCGACGC chr2:200261507-Alternative-C;Patient-55 chr2:200261507-GA Inherited Patient-55 intronic SATB2 NA 4.95e-05 0.77 11.67 -2.62 SATB2 74481 Alternative C catttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatct CGAGTGTAACTT CGACGCGGTCTCTCTCTcatttctgctttaatggaaaagatccgggttcacactaatcaggcccaacCgaaggccatattagcaatttggcaggtacccgagggccatacctaatctAGAGGGAGACGGACGTCTCAATAAcgagtgtaacttAGATCGAGACCCGACGC chr2:200261507-Alternative-C;Patient-55 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Variant T ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc AGCAGGCCATCA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAagcaggccatcaAGATCGAGACCCGACGC chr2:200309612-Variant-T;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Variant T ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CTTACGTGTGAA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAActtacgtgtgaaAGATCGAGACCCGACGC chr2:200309612-Variant-T;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Reference C ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GATTCGTACTGA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgattcgtactgaAGATCGAGACCCGACGC chr2:200309612-Reference-C;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Variant T ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc ATCCTCATAAGG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAatcctcataaggAGATCGAGACCCGACGC chr2:200309612-Variant-T;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative A ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GACGCACTTAAG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgacgcacttaagAGATCGAGACCCGACGC chr2:200309612-Alternative-A;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative G ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GGTGGAGTATTA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAggtggagtattaAGATCGAGACCCGACGC chr2:200309612-Alternative-G;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative A ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GTTGACCATCGG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgttgaccatcggAGATCGAGACCCGACGC chr2:200309612-Alternative-A;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Reference C ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CGGAATTGTAAC CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAcggaattgtaacAGATCGAGACCCGACGC chr2:200309612-Reference-C;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Variant T ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GGTAGCTAATGA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAggtagctaatgaAGATCGAGACCCGACGC chr2:200309612-Variant-T;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative G ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CTTATTGACGTC CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAActtattgacgtcAGATCGAGACCCGACGC chr2:200309612-Alternative-G;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Variant T ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CAACAGCGATAA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagTaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAcaacagcgataaAGATCGAGACCCGACGC chr2:200309612-Variant-T;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Reference C ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc AAGACCGTGACG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAaagaccgtgacgAGATCGAGACCCGACGC chr2:200309612-Reference-C;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative G ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CAGCATTCAGCG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAcagcattcagcgAGATCGAGACCCGACGC chr2:200309612-Alternative-G;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative G ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GTGAACCAGTAA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgtgaaccagtaaAGATCGAGACCCGACGC chr2:200309612-Alternative-G;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative A ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GCGTAAGGCTGT CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgcgtaaggctgtAGATCGAGACCCGACGC chr2:200309612-Alternative-A;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative G ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc ACATGACCACAG CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagGaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAacatgaccacagAGATCGAGACCCGACGC chr2:200309612-Alternative-G;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative A ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GGTACTATTCCT CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAggtactattcctAGATCGAGACCCGACGC chr2:200309612-Alternative-A;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Alternative A ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GCATAAGGCCGA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagAaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAgcataaggccgaAGATCGAGACCCGACGC chr2:200309612-Alternative-A;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Reference C ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc GGCTATCTCGCT CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAAggctatctcgctAGATCGAGACCCGACGC chr2:200309612-Reference-C;Patient-9 chr2:200309612-CT DeNovo Patient-9 intronic SATB2 NA 4.95e-05 1.82 17.64 3.06 SATB2 26376 Reference C ttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggc CTAGATCTGCAA CGACGCGGTCTCTCTCTttattttgttaacacaaataggatcgacaaacagctatgttttcaaagagCaagcctgtgtttattctatatatgagaggctggcggcgagaaagatggcAGAGGGAGACGGACGTCTCAATAActagatctgcaaAGATCGAGACCCGACGC chr2:200309612-Reference-C;Patient-9 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Reference G ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa CTATGTTCAACC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAActatgttcaaccAGATCGAGACCCGACGC chr2:202266338-Reference-G;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Reference G ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa CAAGTCAATGCT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAcaagtcaatgctAGATCGAGACCCGACGC chr2:202266338-Reference-G;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Reference G ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa GAATCAACACGA CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAgaatcaacacgaAGATCGAGACCCGACGC chr2:202266338-Reference-G;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Reference G ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa ATTGGCCGCGTT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAattggccgcgttAGATCGAGACCCGACGC chr2:202266338-Reference-G;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Variant T ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa AGCGCTACAATT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAagcgctacaattAGATCGAGACCCGACGC chr2:202266338-Variant-T;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative A ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa ATCGTCCTGGAG CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAatcgtcctggagAGATCGAGACCCGACGC chr2:202266338-Alternative-A;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative A ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa CATCTTCCTATC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAcatcttcctatcAGATCGAGACCCGACGC chr2:202266338-Alternative-A;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative A ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa CGATCGCACTAA CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAcgatcgcactaaAGATCGAGACCCGACGC chr2:202266338-Alternative-A;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative C ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa GTTCTACAGGAT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAgttctacaggatAGATCGAGACCCGACGC chr2:202266338-Alternative-C;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative A ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa AGCTCTAAGACT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAagctctaagactAGATCGAGACCCGACGC chr2:202266338-Alternative-A;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative C ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa ATACCGCATACG CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAataccgcatacgAGATCGAGACCCGACGC chr2:202266338-Alternative-C;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative C ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa ATAGACCATCGT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAatagaccatcgtAGATCGAGACCCGACGC chr2:202266338-Alternative-C;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Variant T ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa GCCGTACTAACC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAgccgtactaaccAGATCGAGACCCGACGC chr2:202266338-Variant-T;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative C ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa ACTTGTCCGAAG CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAacttgtccgaagAGATCGAGACCCGACGC chr2:202266338-Alternative-C;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative C ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa AACGCTTGCTTC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatCaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAaacgcttgcttcAGATCGAGACCCGACGC chr2:202266338-Alternative-C;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Alternative A ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa GCATGACCTACC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatAaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAgcatgacctaccAGATCGAGACCCGACGC chr2:202266338-Alternative-A;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Variant T ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa GTAACATCTGCA CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAgtaacatctgcaAGATCGAGACCCGACGC chr2:202266338-Variant-T;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Variant T ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa CTGTGCGGCTAT CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAActgtgcggctatAGATCGAGACCCGACGC chr2:202266338-Variant-T;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Variant T ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa AGATGCCTGTTA CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatTaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAagatgcctgttaAGATCGAGACCCGACGC chr2:202266338-Variant-T;Patient-25 chr2:202266338-GT DeNovo Patient-25 intronic TRAK2 NA 4.95e-05 -0.22 0.65 -0.57 TRAK2 49980 Reference G ctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaa AGCGGCGTATAC CGACGCGGTCTCTCTCTctaatgtaaacaaggaacaggatttgaaggactttttctggttctgttatGaaccataattcctttaggcttaattaaaaaccctttacttgtataaaaaAGAGGGAGACGGACGTCTCAATAAagcggcgtatacAGATCGAGACCCGACGC chr2:202266338-Reference-G;Patient-25 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Reference C atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GAAGTTACCGAC CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAgaagttaccgacAGATCGAGACCCGACGC chr2:202843701-Reference-C;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Reference C atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GGACCACACGAT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAggaccacacgatAGATCGAGACCCGACGC chr2:202843701-Reference-C;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Reference C atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GTTCGATGTGCG CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAgttcgatgtgcgAGATCGAGACCCGACGC chr2:202843701-Reference-C;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Reference C atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtaga AATGCGATCTGT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaatgcgatctgtAGATCGAGACCCGACGC chr2:202843701-Reference-C;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Reference C atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtaga ATTGCATCAGGT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatCcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAattgcatcaggtAGATCGAGACCCGACGC chr2:202843701-Reference-C;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Variant A atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtaga AAGGAACATGCT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaaggaacatgctAGATCGAGACCCGACGC chr2:202843701-Variant-A;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative G atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtaga ACTAGTGGCGCA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAactagtggcgcaAGATCGAGACCCGACGC chr2:202843701-Alternative-G;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative T atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtaga AATGGCACTATC CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaatggcactatcAGATCGAGACCCGACGC chr2:202843701-Alternative-T;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative G atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtaga AGGTGAATCGAA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaggtgaatcgaaAGATCGAGACCCGACGC chr2:202843701-Alternative-G;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative G atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GGTCGGTCAATC CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAggtcggtcaatcAGATCGAGACCCGACGC chr2:202843701-Alternative-G;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Variant A atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtaga GTAGTCTATCCT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAgtagtctatcctAGATCGAGACCCGACGC chr2:202843701-Variant-A;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Variant A atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtaga AGGCGAACCAGA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaggcgaaccagaAGATCGAGACCCGACGC chr2:202843701-Variant-A;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative G atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtaga ACGTCAATTGCG CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAacgtcaattgcgAGATCGAGACCCGACGC chr2:202843701-Alternative-G;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative T atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtaga CGGACGTAAGCA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAcggacgtaagcaAGATCGAGACCCGACGC chr2:202843701-Alternative-T;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative T atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtaga AGCATGTGACTT CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAagcatgtgacttAGATCGAGACCCGACGC chr2:202843701-Alternative-T;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative T atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GTAATGCGGCAG CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAgtaatgcggcagAGATCGAGACCCGACGC chr2:202843701-Alternative-T;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative T atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtaga ACACCTCGATAA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatTcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAacacctcgataaAGATCGAGACCCGACGC chr2:202843701-Alternative-T;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Alternative G atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtaga GTCGCATAGTTA CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatGcttcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAgtcgcatagttaAGATCGAGACCCGACGC chr2:202843701-Alternative-G;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Variant A atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtaga AATGTGCGCGAG CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAAaatgtgcgcgagAGATCGAGACCCGACGC chr2:202843701-Variant-A;Patient-37 chr2:202843701-CA Inherited Patient-37 intergenic 7.3e-05 0.000513 0.58 10.09 -1.8 FZD7 55608 Variant A atatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtaga CTCTCGATTCGG CGACGCGGTCTCTCTCTatatatgcagcacatgtctctccaacaggctatacaaggtttgagcagatActtcatttctttggatatttatatgcacaggggttgccctaattgtagaAGAGGGAGACGGACGTCTCAATAActctcgattcggAGATCGAGACCCGACGC chr2:202843701-Variant-A;Patient-37 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative G agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GCGCGACATAAC CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgcgcgacataacAGATCGAGACCCGACGC chr2:203235322-Alternative-G;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative G agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CGTGCATGCTTC CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcgtgcatgcttcAGATCGAGACCCGACGC chr2:203235322-Alternative-G;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Variant T agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CGCGACCAATTA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcgcgaccaattaAGATCGAGACCCGACGC chr2:203235322-Variant-T;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative G agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CACGTCGTCGAA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcacgtcgtcgaaAGATCGAGACCCGACGC chr2:203235322-Alternative-G;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Variant T agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GAGTATAGTACG CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgagtatagtacgAGATCGAGACCCGACGC chr2:203235322-Variant-T;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Variant T agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct AATGACATCGTC CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAaatgacatcgtcAGATCGAGACCCGACGC chr2:203235322-Variant-T;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative A agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct ATCTGCCGGTAC CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAatctgccggtacAGATCGAGACCCGACGC chr2:203235322-Alternative-A;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative G agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct AGTCAAGCGTGC CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAagtcaagcgtgcAGATCGAGACCCGACGC chr2:203235322-Alternative-G;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Reference C agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CGTCGAGTAGCT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcgtcgagtagctAGATCGAGACCCGACGC chr2:203235322-Reference-C;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Variant T agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct ACGTTGAGATGA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAacgttgagatgaAGATCGAGACCCGACGC chr2:203235322-Variant-T;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative A agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GCGCATACTAAT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgcgcatactaatAGATCGAGACCCGACGC chr2:203235322-Alternative-A;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Variant T agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CAACAACCTTGA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctTggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcaacaaccttgaAGATCGAGACCCGACGC chr2:203235322-Variant-T;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative G agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct ACACCGGTAACG CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctGggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAacaccggtaacgAGATCGAGACCCGACGC chr2:203235322-Alternative-G;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative A agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GGCGGTCAAGAA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAggcggtcaagaaAGATCGAGACCCGACGC chr2:203235322-Alternative-A;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Reference C agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct AGCTAATCCGAT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAagctaatccgatAGATCGAGACCCGACGC chr2:203235322-Reference-C;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative A agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GATTGACTCGTT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgattgactcgttAGATCGAGACCCGACGC chr2:203235322-Alternative-A;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Alternative A agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GCGCTACTCGAT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctAggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgcgctactcgatAGATCGAGACCCGACGC chr2:203235322-Alternative-A;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Reference C agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CGTCGGCCAATA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcgtcggccaataAGATCGAGACCCGACGC chr2:203235322-Reference-C;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Reference C agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct CGATTAAGCAGA CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAcgattaagcagaAGATCGAGACCCGACGC chr2:203235322-Reference-C;Patient-93 chr2:203235322-CT Inherited Patient-93 intergenic 9.6e-05 0.000513 -0.84 0.01 -1.04 BMPR2 5727 Reference C agaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcct GATAAGTTCGCT CGACGCGGTCTCTCTCTagaaggggtttcacctgtctcgaactcctgaccttgtgatctgcccgcctCggcctcccaaagtgctgggattacacgcgtgagccactgctcccagcctAGAGGGAGACGGACGTCTCAATAAgataagttcgctAGATCGAGACCCGACGC chr2:203235322-Reference-C;Patient-93 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative A atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc AACGTTCGCGAC CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAaacgttcgcgacAGATCGAGACCCGACGC chr2:20373668-Alternative-A;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative A atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc ATTATTCCTCGG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAattattcctcggAGATCGAGACCCGACGC chr2:20373668-Alternative-A;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Reference T atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GTGGCAAGTATA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAgtggcaagtataAGATCGAGACCCGACGC chr2:20373668-Reference-T;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative A atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc ACGCCTGTTAAG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAacgcctgttaagAGATCGAGACCCGACGC chr2:20373668-Alternative-A;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative A atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc AAGCACGACCGA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAaagcacgaccgaAGATCGAGACCCGACGC chr2:20373668-Alternative-A;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative A atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GCGTTAAGACGG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgAcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAgcgttaagacggAGATCGAGACCCGACGC chr2:20373668-Alternative-A;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Variant C atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CTGTCGTAGCGA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAActgtcgtagcgaAGATCGAGACCCGACGC chr2:20373668-Variant-C;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Reference T atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CGACGAGTACGA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAcgacgagtacgaAGATCGAGACCCGACGC chr2:20373668-Reference-T;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Variant C atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CGAAGCTTCTGA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAcgaagcttctgaAGATCGAGACCCGACGC chr2:20373668-Variant-C;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Reference T atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc ACGAGTCCATTA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAacgagtccattaAGATCGAGACCCGACGC chr2:20373668-Reference-T;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Variant C atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GGTTACCGAAGG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAggttaccgaaggAGATCGAGACCCGACGC chr2:20373668-Variant-C;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Variant C atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GACGTACGAACG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAgacgtacgaacgAGATCGAGACCCGACGC chr2:20373668-Variant-C;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Reference T atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GCGCATTCTCGT CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAgcgcattctcgtAGATCGAGACCCGACGC chr2:20373668-Reference-T;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative G atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc GTTGAGTTGCGG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAgttgagttgcggAGATCGAGACCCGACGC chr2:20373668-Alternative-G;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Reference T atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc ACCTTGCATAGT CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgTcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAaccttgcatagtAGATCGAGACCCGACGC chr2:20373668-Reference-T;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative G atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CGAGAGTAATCA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAcgagagtaatcaAGATCGAGACCCGACGC chr2:20373668-Alternative-G;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative G atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CTTACTTATCGG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAActtacttatcggAGATCGAGACCCGACGC chr2:20373668-Alternative-G;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative G atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc ACGCATTCTTGT CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAacgcattcttgtAGATCGAGACCCGACGC chr2:20373668-Alternative-G;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Alternative G atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc CAGTAGATAGCA CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgGcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAcagtagatagcaAGATCGAGACCCGACGC chr2:20373668-Alternative-G;Patient-49 chr2:20373668-TC DeNovo Patient-49 intergenic NA 0.000513 0.2 5.78 0.01 SDC1 51525 Variant C atatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtc AGTCTATTGCAG CGACGCGGTCTCTCTCTatatccttgcagggcctggaaaagttttctagttatttgttagcttcatgCcaagcagaatggctttctttcattcttcagctgtactcggccagaagtcAGAGGGAGACGGACGTCTCAATAAagtctattgcagAGATCGAGACCCGACGC chr2:20373668-Variant-C;Patient-49 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Variant G cttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctca ACGACCGATAGT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAacgaccgatagtAGATCGAGACCCGACGC chr2:204536145-Variant-G;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Variant G cttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctca GCAGCTTGGTGT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgcagcttggtgtAGATCGAGACCCGACGC chr2:204536145-Variant-G;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Variant G cttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctca CTTGATCATGCT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAActtgatcatgctAGATCGAGACCCGACGC chr2:204536145-Variant-G;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Variant G cttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctca CTCGCTTGTCGA CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAActcgcttgtcgaAGATCGAGACCCGACGC chr2:204536145-Variant-G;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative T cttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctca CAACGTCGCCTT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAcaacgtcgccttAGATCGAGACCCGACGC chr2:204536145-Alternative-T;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Variant G cttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctca GACTAACATGCT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccGggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgactaacatgctAGATCGAGACCCGACGC chr2:204536145-Variant-G;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative T cttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctca CGGCATACGCAT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAcggcatacgcatAGATCGAGACCCGACGC chr2:204536145-Alternative-T;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative T cttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctca CAACTAATCGAG CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAcaactaatcgagAGATCGAGACCCGACGC chr2:204536145-Alternative-T;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Reference A cttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctca CGTCGCACATCA CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAcgtcgcacatcaAGATCGAGACCCGACGC chr2:204536145-Reference-A;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Reference A cttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctca GTTACGACGTTA CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgttacgacgttaAGATCGAGACCCGACGC chr2:204536145-Reference-A;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative T cttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctca AGACCGACTGAT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAagaccgactgatAGATCGAGACCCGACGC chr2:204536145-Alternative-T;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Reference A cttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctca GTTAACGACGTT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgttaacgacgttAGATCGAGACCCGACGC chr2:204536145-Reference-A;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative C cttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctca ATACCAAGACGA CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAataccaagacgaAGATCGAGACCCGACGC chr2:204536145-Alternative-C;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Reference A cttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctca AAGTCATTGACG CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAaagtcattgacgAGATCGAGACCCGACGC chr2:204536145-Reference-A;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative T cttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctca GACCTAGCAACA CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccTggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgacctagcaacaAGATCGAGACCCGACGC chr2:204536145-Alternative-T;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative C cttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctca GTCGTTGAGTCG CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAgtcgttgagtcgAGATCGAGACCCGACGC chr2:204536145-Alternative-C;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative C cttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctca AGTCATAGCGCG CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAagtcatagcgcgAGATCGAGACCCGACGC chr2:204536145-Alternative-C;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative C cttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctca AGTGACTTCCAT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAagtgacttccatAGATCGAGACCCGACGC chr2:204536145-Alternative-C;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Reference A cttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctca AGAATCGACCGT CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccAggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAagaatcgaccgtAGATCGAGACCCGACGC chr2:204536145-Reference-A;Patient-84 chr2:204536145-AG Inherited Patient-84 intergenic 0.000192 0.000513 -0.05 1.93 -1.26 CD28 35052 Alternative C cttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctca AAGATCGGCACG CGACGCGGTCTCTCTCTcttctttcatagtaccaattttctttctacttatattgatcctcctttccCggcttcttctaggacttctcttattatgctcacacccccactaccctcaAGAGGGAGACGGACGTCTCAATAAaagatcggcacgAGATCGAGACCCGACGC chr2:204536145-Alternative-C;Patient-84 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative G gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttatt GTGTATCTGCAA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAgtgtatctgcaaAGATCGAGACCCGACGC chr2:204628929-Alternative-G;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative G gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttatt ACGTGTCGTGGT CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAacgtgtcgtggtAGATCGAGACCCGACGC chr2:204628929-Alternative-G;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative G gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CACATCATCTAC CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAcacatcatctacAGATCGAGACCCGACGC chr2:204628929-Alternative-G;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Variant T gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CGGATTCTACGG CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAcggattctacggAGATCGAGACCCGACGC chr2:204628929-Variant-T;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Variant T gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttatt ATTCAATAGGCG CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAattcaataggcgAGATCGAGACCCGACGC chr2:204628929-Variant-T;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Variant T gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CAGCGAAGTACG CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAcagcgaagtacgAGATCGAGACCCGACGC chr2:204628929-Variant-T;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Variant T gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttatt AAGACGAAGGAT CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAaagacgaaggatAGATCGAGACCCGACGC chr2:204628929-Variant-T;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Variant T gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttatt ATACGGTTCTGA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacTgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAatacggttctgaAGATCGAGACCCGACGC chr2:204628929-Variant-T;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative G gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CAGTTGAGCTAA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAcagttgagctaaAGATCGAGACCCGACGC chr2:204628929-Alternative-G;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative G gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttatt GTACGAGAATCA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacGgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAgtacgagaatcaAGATCGAGACCCGACGC chr2:204628929-Alternative-G;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative A gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CTATTGGTTCAC CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAActattggttcacAGATCGAGACCCGACGC chr2:204628929-Alternative-A;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative A gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttatt ACAACACAACCT CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAacaacacaacctAGATCGAGACCCGACGC chr2:204628929-Alternative-A;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Reference C gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CACGTAGATATC CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAcacgtagatatcAGATCGAGACCCGACGC chr2:204628929-Reference-C;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Reference C gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttatt GTACTTAAGTCG CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAgtacttaagtcgAGATCGAGACCCGACGC chr2:204628929-Reference-C;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative A gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CTCACCTTCGCT CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAActcaccttcgctAGATCGAGACCCGACGC chr2:204628929-Alternative-A;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative A gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttatt GTGCGAATCGCA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAgtgcgaatcgcaAGATCGAGACCCGACGC chr2:204628929-Alternative-A;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Reference C gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttatt AGGAGTTCGACC CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAaggagttcgaccAGATCGAGACCCGACGC chr2:204628929-Reference-C;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Alternative A gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttatt GGAACGCTGACA CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacAgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAggaacgctgacaAGATCGAGACCCGACGC chr2:204628929-Alternative-A;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Reference C gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttatt CTAAGAGATGGT CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAActaagagatggtAGATCGAGACCCGACGC chr2:204628929-Reference-C;Patient-30 chr2:204628929-CT Inherited Patient-30 intergenic 3.2e-05 0.00032041 NA NA NA CD28 57730 Reference C gagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttatt AAGGTATCCAAG CGACGCGGTCTCTCTCTgagtgttacttgggcttttctaaggcctaaaatgtgctaagtgaaaacacCgaccttgtgctttttttttctttttattttgacctctgaaatttttattAGAGGGAGACGGACGTCTCAATAAaaggtatccaagAGATCGAGACCCGACGC chr2:204628929-Reference-C;Patient-30 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Variant C tgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AGAGGTACATGG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAagaggtacatggAGATCGAGACCCGACGC chr2:204821125-Variant-C;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative A tgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CTAAGACCAACC CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAActaagaccaaccAGATCGAGACCCGACGC chr2:204821125-Alternative-A;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Variant C tgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat ACGATTCGTCGG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAacgattcgtcggAGATCGAGACCCGACGC chr2:204821125-Variant-C;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Reference T tgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CGCGTTGGTAAG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAcgcgttggtaagAGATCGAGACCCGACGC chr2:204821125-Reference-T;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Variant C tgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat ACGAACGTCACT CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAacgaacgtcactAGATCGAGACCCGACGC chr2:204821125-Variant-C;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Variant C tgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AGCCAAGTATCG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAagccaagtatcgAGATCGAGACCCGACGC chr2:204821125-Variant-C;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Variant C tgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CGGCGGAGATAA CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttCtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAcggcggagataaAGATCGAGACCCGACGC chr2:204821125-Variant-C;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative A tgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat ATCGTCTGAGCG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAatcgtctgagcgAGATCGAGACCCGACGC chr2:204821125-Alternative-A;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative A tgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat GTGTTGTCATGA CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAgtgttgtcatgaAGATCGAGACCCGACGC chr2:204821125-Alternative-A;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Reference T tgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CGCATCCGTTAT CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAcgcatccgttatAGATCGAGACCCGACGC chr2:204821125-Reference-T;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Reference T tgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat GTGAGAACGTCG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAgtgagaacgtcgAGATCGAGACCCGACGC chr2:204821125-Reference-T;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative A tgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AAGATTACGCGA CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAaagattacgcgaAGATCGAGACCCGACGC chr2:204821125-Alternative-A;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Reference T tgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AACGGTAAGGCG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAaacggtaaggcgAGATCGAGACCCGACGC chr2:204821125-Reference-T;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative A tgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CTTGAATTCGTC CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttAtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAActtgaattcgtcAGATCGAGACCCGACGC chr2:204821125-Alternative-A;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Reference T tgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat GTTAACGTCGCG CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttTtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAgttaacgtcgcgAGATCGAGACCCGACGC chr2:204821125-Reference-T;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative G tgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AATGACGGTTCT CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAaatgacggttctAGATCGAGACCCGACGC chr2:204821125-Alternative-G;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative G tgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat AGACGCAAGTCA CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAagacgcaagtcaAGATCGAGACCCGACGC chr2:204821125-Alternative-G;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative G tgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CAAGGAACTTCT CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAcaaggaacttctAGATCGAGACCCGACGC chr2:204821125-Alternative-G;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative G tgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat GAGAGTAGTGCA CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAAgagagtagtgcaAGATCGAGACCCGACGC chr2:204821125-Alternative-G;Patient-7 chr2:204821125-TC DeNovo Patient-7 intronic ICOS NA 4.19e-05 0.19 5.71 2.12 ICOS 19653 Alternative G tgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaat CTAGATCTACGC CGACGCGGTCTCTCTCTtgatgattgaaaatcatagttttataacattacttttactattacctcttGtataaaaatataggcagaaaagccctttctattaaccacatttgtaaatAGAGGGAGACGGACGTCTCAATAActagatctacgcAGATCGAGACCCGACGC chr2:204821125-Alternative-G;Patient-7 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative C agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta GCAATGGCTCGT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAgcaatggctcgtAGATCGAGACCCGACGC chr2:205417729-Alternative-C;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Variant G agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ATATTCGACGCA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAatattcgacgcaAGATCGAGACCCGACGC chr2:205417729-Variant-G;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Reference A agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta AATCGCATGTCA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAaatcgcatgtcaAGATCGAGACCCGACGC chr2:205417729-Reference-A;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative C agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CTAACGAACGCT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAActaacgaacgctAGATCGAGACCCGACGC chr2:205417729-Alternative-C;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative C agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ATCGGAACTCGT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAatcggaactcgtAGATCGAGACCCGACGC chr2:205417729-Alternative-C;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative C agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ACGATACTTGCA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAacgatacttgcaAGATCGAGACCCGACGC chr2:205417729-Alternative-C;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Variant G agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ATTCCGCGGTAC CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAattccgcggtacAGATCGAGACCCGACGC chr2:205417729-Variant-G;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Variant G agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta GTCAGTATCGCG CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAgtcagtatcgcgAGATCGAGACCCGACGC chr2:205417729-Variant-G;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative C agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ATAAGGCCGATT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacCtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAataaggccgattAGATCGAGACCCGACGC chr2:205417729-Alternative-C;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Variant G agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta AGGCGCGAGATA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAaggcgcgagataAGATCGAGACCCGACGC chr2:205417729-Variant-G;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Variant G agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta ACACGACACTTA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacGtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAacacgacacttaAGATCGAGACCCGACGC chr2:205417729-Variant-G;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Reference A agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta GGAGTATACCTT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAggagtataccttAGATCGAGACCCGACGC chr2:205417729-Reference-A;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative T agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta GGCTCCTGTAGA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAggctcctgtagaAGATCGAGACCCGACGC chr2:205417729-Alternative-T;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative T agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CTGGCGTTCAAG CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAActggcgttcaagAGATCGAGACCCGACGC chr2:205417729-Alternative-T;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative T agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta GGATACCATACT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAggataccatactAGATCGAGACCCGACGC chr2:205417729-Alternative-T;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative T agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta AGCTTAGGTTCA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAagcttaggttcaAGATCGAGACCCGACGC chr2:205417729-Alternative-T;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Alternative T agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CGACGGTTGTCA CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacTtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAcgacggttgtcaAGATCGAGACCCGACGC chr2:205417729-Alternative-T;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Reference A agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CGTAATATGCGT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAcgtaatatgcgtAGATCGAGACCCGACGC chr2:205417729-Reference-A;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Reference A agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CAGCGCATCGAT CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAcagcgcatcgatAGATCGAGACCCGACGC chr2:205417729-Reference-A;Patient-69 chr2:205417729-AG DeNovo Patient-69 intronic PARD3B 3.2e-05 4.95e-05 -0.25 0.52 -0.47 PARD3B 7212 Reference A agtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaatta CGAGTGTCTAAG CGACGCGGTCTCTCTCTagtgtaaacagacaacccacagagtgggagaaaatctttgcaatctatacAtctgacaaaggactaatatccagaatctacaatgaactcaaacaaattaAGAGGGAGACGGACGTCTCAATAAcgagtgtctaagAGATCGAGACCCGACGC chr2:205417729-Reference-A;Patient-69 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative C acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa CTTAGAGAGCAT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAActtagagagcatAGATCGAGACCCGACGC chr2:210657395-Alternative-C;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative A acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa AGCGCGAGATCA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAagcgcgagatcaAGATCGAGACCCGACGC chr2:210657395-Alternative-A;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative A acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GTGTCTTACGTT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgtgtcttacgttAGATCGAGACCCGACGC chr2:210657395-Alternative-A;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative C acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa AAGATGACGCAA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAaagatgacgcaaAGATCGAGACCCGACGC chr2:210657395-Alternative-C;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative C acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GTGAGCTACATA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgtgagctacataAGATCGAGACCCGACGC chr2:210657395-Alternative-C;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative C acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GAGAGCACGATT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgagagcacgattAGATCGAGACCCGACGC chr2:210657395-Alternative-C;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative C acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GAGTAGTGTACA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaCtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgagtagtgtacaAGATCGAGACCCGACGC chr2:210657395-Alternative-C;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Reference T acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GTGCTTGTCATT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgtgcttgtcattAGATCGAGACCCGACGC chr2:210657395-Reference-T;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative A acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa CGATATACCACG CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAcgatataccacgAGATCGAGACCCGACGC chr2:210657395-Alternative-A;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative A acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa CGGCATTCTGCT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAcggcattctgctAGATCGAGACCCGACGC chr2:210657395-Alternative-A;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Alternative A acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa CAAGTACGCGAA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaAtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAcaagtacgcgaaAGATCGAGACCCGACGC chr2:210657395-Alternative-A;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Reference T acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa CAGCGTATAACG CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAcagcgtataacgAGATCGAGACCCGACGC chr2:210657395-Reference-T;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Reference T acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa ACGATTGCTCTT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAacgattgctcttAGATCGAGACCCGACGC chr2:210657395-Reference-T;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Reference T acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa AAGTGACGACTA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAaagtgacgactaAGATCGAGACCCGACGC chr2:210657395-Reference-T;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Variant G acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GCGGCTCAAGTT CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgcggctcaagttAGATCGAGACCCGACGC chr2:210657395-Variant-G;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Reference T acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GCGTTCTTCGCA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaTtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgcgttcttcgcaAGATCGAGACCCGACGC chr2:210657395-Reference-T;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Variant G acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa ACGCTTAGCCGA CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAacgcttagccgaAGATCGAGACCCGACGC chr2:210657395-Variant-G;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Variant G acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GTACACGTATCG CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgtacacgtatcgAGATCGAGACCCGACGC chr2:210657395-Variant-G;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Variant G acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GTGCGAGTAACG CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAgtgcgagtaacgAGATCGAGACCCGACGC chr2:210657395-Variant-G;Patient-68 chr2:210657395-TG Inherited Patient-68 intronic UNC80 NA 9.9e-05 0.16 5.29 -0.75 UNC80 20677 Variant G acaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaa GGAGTCGACTTC CGACGCGGTCTCTCTCTacaggcatgagccaccgcgcccggttccatcttaatactttttatattgaGtctatgttgaaatgataattaggggttaaaaagaatatattattaaaaaAGAGGGAGACGGACGTCTCAATAAggagtcgacttcAGATCGAGACCCGACGC chr2:210657395-Variant-G;Patient-68 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Variant G tattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat CGTTGCTTCGAC CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAcgttgcttcgacAGATCGAGACCCGACGC chr2:210715133-Variant-G;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Variant G tattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ACGGCGTATATT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAacggcgtatattAGATCGAGACCCGACGC chr2:210715133-Variant-G;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Variant G tattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AGTAAGCTTGCT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAagtaagcttgctAGATCGAGACCCGACGC chr2:210715133-Variant-G;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative T tattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ATTACGGATTGC CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAattacggattgcAGATCGAGACCCGACGC chr2:210715133-Alternative-T;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative T tattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat CGGTAGGCGATT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAcggtaggcgattAGATCGAGACCCGACGC chr2:210715133-Alternative-T;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative C tattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ACGCCTTAAGAT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAacgccttaagatAGATCGAGACCCGACGC chr2:210715133-Alternative-C;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative T tattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat CATGAGTTCGAT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAcatgagttcgatAGATCGAGACCCGACGC chr2:210715133-Alternative-T;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative T tattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ATCAAGACGGCG CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAatcaagacggcgAGATCGAGACCCGACGC chr2:210715133-Alternative-T;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Variant G tattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat CTTGTCGTATGT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAActtgtcgtatgtAGATCGAGACCCGACGC chr2:210715133-Variant-G;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative T tattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AGATACGGAGCT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagTacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAagatacggagctAGATCGAGACCCGACGC chr2:210715133-Alternative-T;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative C tattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ACTAAGCGAGGT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAactaagcgaggtAGATCGAGACCCGACGC chr2:210715133-Alternative-C;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Variant G tattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AAGGCGTACCGA CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagGacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAaaggcgtaccgaAGATCGAGACCCGACGC chr2:210715133-Variant-G;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Reference A tattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat GAGCACGATAAT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAgagcacgataatAGATCGAGACCCGACGC chr2:210715133-Reference-A;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative C tattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat CGGCGAGAAGTT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAcggcgagaagttAGATCGAGACCCGACGC chr2:210715133-Alternative-C;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Reference A tattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AGTCGAATTGAG CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAagtcgaattgagAGATCGAGACCCGACGC chr2:210715133-Reference-A;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative C tattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat GCAAGCGGTTGT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAgcaagcggttgtAGATCGAGACCCGACGC chr2:210715133-Alternative-C;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Alternative C tattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AGACGACATCGT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagCacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAagacgacatcgtAGATCGAGACCCGACGC chr2:210715133-Alternative-C;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Reference A tattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat AATGCGGTATCA CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAaatgcggtatcaAGATCGAGACCCGACGC chr2:210715133-Reference-A;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Reference A tattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat ACCAACGACGAG CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAaccaacgacgagAGATCGAGACCCGACGC chr2:210715133-Reference-A;Patient-37 chr2:210715133-AG Inherited Patient-37 intronic UNC80 NA 4.95e-05 0.08 3.99 1.37 UNC80 78415 Reference A tattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttat GCCGGTGATACT CGACGCGGTCTCTCTCTtattttattttaacttttaaagaagacaaactgaaatagatttttattagAacaaaaaactttaagcctgccaataaatgatccttttttcgggttttatAGAGGGAGACGGACGTCTCAATAAgccggtgatactAGATCGAGACCCGACGC chr2:210715133-Reference-A;Patient-37 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative A tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagtt CGTATCACTGTT CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcgtatcactgttAGATCGAGACCCGACGC chr2:211203677-Alternative-A;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative A tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagtt GACAACGAAGTT CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAgacaacgaagttAGATCGAGACCCGACGC chr2:211203677-Alternative-A;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative A tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagtt GACCTATGACCG CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAgacctatgaccgAGATCGAGACCCGACGC chr2:211203677-Alternative-A;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative A tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagtt CAGGTGATTCTA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcaggtgattctaAGATCGAGACCCGACGC chr2:211203677-Alternative-A;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative A tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagtt CTACGACGCTGA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaAtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAActacgacgctgaAGATCGAGACCCGACGC chr2:211203677-Alternative-A;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Variant C tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagtt GAGGTGGACAAG CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAgaggtggacaagAGATCGAGACCCGACGC chr2:211203677-Variant-C;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative G tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagtt CAATAGGCGCAC CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcaataggcgcacAGATCGAGACCCGACGC chr2:211203677-Alternative-G;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Variant C tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagtt GGCGAACTACCA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAggcgaactaccaAGATCGAGACCCGACGC chr2:211203677-Variant-C;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Variant C tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagtt CATTGGCGTCCT CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcattggcgtcctAGATCGAGACCCGACGC chr2:211203677-Variant-C;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Reference T tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagtt ACCTCGTTATCA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAacctcgttatcaAGATCGAGACCCGACGC chr2:211203677-Reference-T;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative G tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagtt ACCACAGGTAGA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAaccacaggtagaAGATCGAGACCCGACGC chr2:211203677-Alternative-G;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative G tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagtt CAACGTGCAGTC CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcaacgtgcagtcAGATCGAGACCCGACGC chr2:211203677-Alternative-G;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Reference T tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagtt CTTAGTTCTGCA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAActtagttctgcaAGATCGAGACCCGACGC chr2:211203677-Reference-T;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative G tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagtt CACAGCAGTTCG CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcacagcagttcgAGATCGAGACCCGACGC chr2:211203677-Alternative-G;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Variant C tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagtt ACACCGGTCCTA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAacaccggtcctaAGATCGAGACCCGACGC chr2:211203677-Variant-C;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Variant C tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagtt GACGACCGGATT CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaCtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAgacgaccggattAGATCGAGACCCGACGC chr2:211203677-Variant-C;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Reference T tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagtt CATATAGCTCGA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcatatagctcgaAGATCGAGACCCGACGC chr2:211203677-Reference-T;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Alternative G tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagtt ACGGTCGGCATT CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaGtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAacggtcggcattAGATCGAGACCCGACGC chr2:211203677-Alternative-G;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Reference T tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagtt CGATCGTACGCA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAcgatcgtacgcaAGATCGAGACCCGACGC chr2:211203677-Reference-T;Patient-55 chr2:211203677-TC DeNovo Patient-55 intergenic 6.4e-05 0.000512821 -0.12 1.2 0 MYL1 23781 Reference T tgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagtt GCATTCTATCCA CGACGCGGTCTCTCTCTtgctctggtgtcgggtgcacatatgttcagaagtgtatgcctttgctgaaTtgatccctttatcattatataatgaacttctttgtctctttttatagttAGAGGGAGACGGACGTCTCAATAAgcattctatccaAGATCGAGACCCGACGC chr2:211203677-Reference-T;Patient-55 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative G tttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CAAGCGGTTGAC CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAcaagcggttgacAGATCGAGACCCGACGC chr2:214224914-Alternative-G;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Reference T tttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GTTAACCTTAGG CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAgttaaccttaggAGATCGAGACCCGACGC chr2:214224914-Reference-T;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Reference T tttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat ACACGGATCGAA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAacacggatcgaaAGATCGAGACCCGACGC chr2:214224914-Reference-T;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative A tttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CTACCGTAGTAT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAActaccgtagtatAGATCGAGACCCGACGC chr2:214224914-Alternative-A;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Reference T tttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CTATAAGACCAC CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAActataagaccacAGATCGAGACCCGACGC chr2:214224914-Reference-T;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative G tttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CTAACGCGCATT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAActaacgcgcattAGATCGAGACCCGACGC chr2:214224914-Alternative-G;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Reference T tttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GTCGCGTCATTC CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAgtcgcgtcattcAGATCGAGACCCGACGC chr2:214224914-Reference-T;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative G tttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat ATCCGTTCTGAA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAatccgttctgaaAGATCGAGACCCGACGC chr2:214224914-Alternative-G;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative A tttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat AATCAATGTCGG CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAaatcaatgtcggAGATCGAGACCCGACGC chr2:214224914-Alternative-A;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Reference T tttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat ACACGGACGATT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttTgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAacacggacgattAGATCGAGACCCGACGC chr2:214224914-Reference-T;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative A tttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CGGACCGTAGAA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAcggaccgtagaaAGATCGAGACCCGACGC chr2:214224914-Alternative-A;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative G tttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat ACTTAGTCCGAA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAacttagtccgaaAGATCGAGACCCGACGC chr2:214224914-Alternative-G;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Variant C tttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat CAGGTCGAGTCT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAcaggtcgagtctAGATCGAGACCCGACGC chr2:214224914-Variant-C;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative G tttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GTATCGGCGGTT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttGgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAgtatcggcggttAGATCGAGACCCGACGC chr2:214224914-Alternative-G;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Variant C tttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GACATCGCTGAC CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAgacatcgctgacAGATCGAGACCCGACGC chr2:214224914-Variant-C;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Variant C tttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GGCTTGCGGTTA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAggcttgcggttaAGATCGAGACCCGACGC chr2:214224914-Variant-C;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative A tttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat ACTCTCTAGCTA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAactctctagctaAGATCGAGACCCGACGC chr2:214224914-Alternative-A;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Variant C tttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat GCAGTGTACCGT CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAgcagtgtaccgtAGATCGAGACCCGACGC chr2:214224914-Variant-C;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Alternative A tttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat AACAGGATAGCG CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttAgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAaacaggatagcgAGATCGAGACCCGACGC chr2:214224914-Alternative-A;Patient-82 chr2:214224914-TC DeNovo Patient-82 intronic SPAG16 NA 4.95e-05 0.19 5.64 2.15 SPAG16 75810 Variant C tttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggat AACGCTACGCGA CGACGCGGTCTCTCTCTtttaccatggacaatgctaatactgaatacttgatactctttcagaatttCgttatacttgtcaatggaaactggatgtggcagccaccattctcaggatAGAGGGAGACGGACGTCTCAATAAaacgctacgcgaAGATCGAGACCCGACGC chr2:214224914-Variant-C;Patient-82 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Reference A tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttct CTGGTAGATCAT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAActggtagatcatAGATCGAGACCCGACGC chr2:216156754-Reference-A;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Reference A tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGTAGCGCATAA CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAagtagcgcataaAGATCGAGACCCGACGC chr2:216156754-Reference-A;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative T tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGGACGAGGAGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAaggacgaggagtAGATCGAGACCCGACGC chr2:216156754-Alternative-T;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Reference A tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ACGATGCGGCAA CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAacgatgcggcaaAGATCGAGACCCGACGC chr2:216156754-Reference-A;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Reference A tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttct CGCTATGATCGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAcgctatgatcgtAGATCGAGACCCGACGC chr2:216156754-Reference-A;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Reference A tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGTAGTCTTGGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcAggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAagtagtcttggtAGATCGAGACCCGACGC chr2:216156754-Reference-A;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative C tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttct CAACTGCGTGCT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAcaactgcgtgctAGATCGAGACCCGACGC chr2:216156754-Alternative-C;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative T tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ACAGGCGAACGA CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAacaggcgaacgaAGATCGAGACCCGACGC chr2:216156754-Alternative-T;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative C tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGCGGAATGCGA CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAagcggaatgcgaAGATCGAGACCCGACGC chr2:216156754-Alternative-C;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative C tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGTTCCTATTCG CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAagttcctattcgAGATCGAGACCCGACGC chr2:216156754-Alternative-C;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative C tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ACGGTCATACCA CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAacggtcataccaAGATCGAGACCCGACGC chr2:216156754-Alternative-C;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative C tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttct GTATACCTTGGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcCggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAgtataccttggtAGATCGAGACCCGACGC chr2:216156754-Alternative-C;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative T tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttct GTGCTCGTTAGG CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAgtgctcgttaggAGATCGAGACCCGACGC chr2:216156754-Alternative-T;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Variant G tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ACCTCATGTAGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAacctcatgtagtAGATCGAGACCCGACGC chr2:216156754-Variant-G;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative T tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttct GACTAGTCATTC CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAgactagtcattcAGATCGAGACCCGACGC chr2:216156754-Alternative-T;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Alternative T tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttct CATGCTTACGTT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcTggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAcatgcttacgttAGATCGAGACCCGACGC chr2:216156754-Alternative-T;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Variant G tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ACATCAGTTGAG CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAacatcagttgagAGATCGAGACCCGACGC chr2:216156754-Variant-G;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Variant G tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttct ATTCAAGACCGT CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAattcaagaccgtAGATCGAGACCCGACGC chr2:216156754-Variant-G;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Variant G tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttct GCACGTTCAACG CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAgcacgttcaacgAGATCGAGACCCGACGC chr2:216156754-Variant-G;Patient-60 chr2:216156754-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ATIC 19924 Variant G tgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttct AGATAACGCATC CGACGCGGTCTCTCTCTtgataaggctttatatagaggaaattgtgcaaggaagggaaagaaaatgcGggagaatgtaaagcggttttgcaaatactttaataactaactctcttctAGAGGGAGACGGACGTCTCAATAAagataacgcatcAGATCGAGACCCGACGC chr2:216156754-Variant-G;Patient-60 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Variant C tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GCCACTTATGCT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgccacttatgctAGATCGAGACCCGACGC chr2:216380702-Variant-C;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Variant C tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ACTTACTCCGCA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAacttactccgcaAGATCGAGACCCGACGC chr2:216380702-Variant-C;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Variant C tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CAACGCATTGAT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcaacgcattgatAGATCGAGACCCGACGC chr2:216380702-Variant-C;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Variant C tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CAAGGACGATGA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcaaggacgatgaAGATCGAGACCCGACGC chr2:216380702-Variant-C;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Variant C tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CAGCTAGAACGC CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataCagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcagctagaacgcAGATCGAGACCCGACGC chr2:216380702-Variant-C;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative A tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GTCAGTGTAGAA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgtcagtgtagaaAGATCGAGACCCGACGC chr2:216380702-Alternative-A;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative A tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GGATGTGATCGC CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAggatgtgatcgcAGATCGAGACCCGACGC chr2:216380702-Alternative-A;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative A tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GTAGCGTAGTTA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgtagcgtagttaAGATCGAGACCCGACGC chr2:216380702-Alternative-A;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative G tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GTATCTTAGCGA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgtatcttagcgaAGATCGAGACCCGACGC chr2:216380702-Alternative-G;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative G tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GTTCCAGGATAT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgttccaggatatAGATCGAGACCCGACGC chr2:216380702-Alternative-G;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative G tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca AGTAAGCGAGAA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAagtaagcgagaaAGATCGAGACCCGACGC chr2:216380702-Alternative-G;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative A tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CGCTGGAATATT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcgctggaatattAGATCGAGACCCGACGC chr2:216380702-Alternative-A;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative G tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ACCTAGCGGATA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAacctagcggataAGATCGAGACCCGACGC chr2:216380702-Alternative-G;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Reference T tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CAACTCTAACGT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcaactctaacgtAGATCGAGACCCGACGC chr2:216380702-Reference-T;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative G tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca CGGATTCAACTA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataGagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAcggattcaactaAGATCGAGACCCGACGC chr2:216380702-Alternative-G;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Reference T tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ACAACCAGGCGT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAacaaccaggcgtAGATCGAGACCCGACGC chr2:216380702-Reference-T;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Reference T tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca GATGCGATCGCA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAgatgcgatcgcaAGATCGAGACCCGACGC chr2:216380702-Reference-T;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Reference T tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ACTTGCGCCGTT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAacttgcgccgttAGATCGAGACCCGACGC chr2:216380702-Reference-T;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Alternative A tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ACTCGCATGCCT CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataAagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAactcgcatgcctAGATCGAGACCCGACGC chr2:216380702-Alternative-A;Patient-62 chr2:216380702-TC DeNovo Patient-62 intergenic 0.000382 0.000513 0.01 2.76 -2.31 FN1 79806 Reference T tacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaaca ATCGCGTTGTAA CGACGCGGTCTCTCTCTtacaaaaaacattaccataaatttcaaaaggttcttatttcagatccataTagcaatgtgaagtggcaaatgtaagaagtgatttaaataatttaaaacaAGAGGGAGACGGACGTCTCAATAAatcgcgttgtaaAGATCGAGACCCGACGC chr2:216380702-Reference-T;Patient-62 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Reference C gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc GTGTAATCCGGC CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAgtgtaatccggcAGATCGAGACCCGACGC chr2:217246761-Reference-C;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Variant A gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CTTATAGGTCGG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAActtataggtcggAGATCGAGACCCGACGC chr2:217246761-Variant-A;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Reference C gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc AAGTTGACGTTC CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAaagttgacgttcAGATCGAGACCCGACGC chr2:217246761-Reference-C;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Variant A gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc GCGGAATGTACG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAgcggaatgtacgAGATCGAGACCCGACGC chr2:217246761-Variant-A;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Variant A gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CTGTCTTCTTGT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAActgtcttcttgtAGATCGAGACCCGACGC chr2:217246761-Variant-A;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Variant A gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CAACGAAGATGG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcaacgaagatggAGATCGAGACCCGACGC chr2:217246761-Variant-A;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Reference C gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CGTAGTCATGAT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcgtagtcatgatAGATCGAGACCCGACGC chr2:217246761-Reference-C;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Reference C gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc ACGTGCAGAGGT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAacgtgcagaggtAGATCGAGACCCGACGC chr2:217246761-Reference-C;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Variant A gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc AGGCTCCTAGTT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttAttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAaggctcctagttAGATCGAGACCCGACGC chr2:217246761-Variant-A;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Reference C gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc GACCGTTCTTCG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttCttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAgaccgttcttcgAGATCGAGACCCGACGC chr2:217246761-Reference-C;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative G gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CGTTCGGCCATT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcgttcggccattAGATCGAGACCCGACGC chr2:217246761-Alternative-G;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative G gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CTCTCGTTACGG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAActctcgttacggAGATCGAGACCCGACGC chr2:217246761-Alternative-G;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative G gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CGTTGACTACTT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcgttgactacttAGATCGAGACCCGACGC chr2:217246761-Alternative-G;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative G gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CGGAGTCTAGCA CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcggagtctagcaAGATCGAGACCCGACGC chr2:217246761-Alternative-G;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative T gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc CGGATCGCTTCT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAcggatcgcttctAGATCGAGACCCGACGC chr2:217246761-Alternative-T;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative T gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc GTTGATATGCGT CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAgttgatatgcgtAGATCGAGACCCGACGC chr2:217246761-Alternative-T;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative T gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc AGAATCTCTCGA CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAagaatctctcgaAGATCGAGACCCGACGC chr2:217246761-Alternative-T;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative T gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc AGTGTACTCGGC CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAagtgtactcggcAGATCGAGACCCGACGC chr2:217246761-Alternative-T;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative G gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc GACGGAAGGAAC CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttGttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAgacggaaggaacAGATCGAGACCCGACGC chr2:217246761-Alternative-G;Patient-101 chr2:217246761-CA DeNovo Patient-101 intergenic 0.000127 0.00103 0.38 8.16 0.55 43528 10010 Alternative T gctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagc AGACCTATGACG CGACGCGGTCTCTCTCTgctagacctcttgagccaaacagcaaagttatgaatacagagaaaaagttTttgaaggaatttaaaagtactacagtgaacacatgaatgataagaaagcAGAGGGAGACGGACGTCTCAATAAagacctatgacgAGATCGAGACCCGACGC chr2:217246761-Alternative-T;Patient-101 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Reference C aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CTAAGACGTCGC CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAActaagacgtcgcAGATCGAGACCCGACGC chr2:219008008-Reference-C;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Reference C aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CAGTAGTACCGA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcagtagtaccgaAGATCGAGACCCGACGC chr2:219008008-Reference-C;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Reference C aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGGCAACGTAGT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcggcaacgtagtAGATCGAGACCCGACGC chr2:219008008-Reference-C;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Reference C aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGTGTATGTAGT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgtgtatgtagtAGATCGAGACCCGACGC chr2:219008008-Reference-C;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Reference C aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGCTCATTCGAC CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaCctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgctcattcgacAGATCGAGACCCGACGC chr2:219008008-Reference-C;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative A aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GGTCGTTCATAA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAggtcgttcataaAGATCGAGACCCGACGC chr2:219008008-Alternative-A;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative A aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GCAGACGCGAAT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAgcagacgcgaatAGATCGAGACCCGACGC chr2:219008008-Alternative-A;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative A aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGATGTTGGTTC CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgatgttggttcAGATCGAGACCCGACGC chr2:219008008-Alternative-A;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative A aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac ACCGATGCCTGA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAaccgatgcctgaAGATCGAGACCCGACGC chr2:219008008-Alternative-A;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative A aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GGAACGGTCGAT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaActagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAggaacggtcgatAGATCGAGACCCGACGC chr2:219008008-Alternative-A;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Variant T aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac AGCAGCATTGAA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAagcagcattgaaAGATCGAGACCCGACGC chr2:219008008-Variant-T;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Variant T aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GCGGCGTTACTT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAgcggcgttacttAGATCGAGACCCGACGC chr2:219008008-Variant-T;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Variant T aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGTTATCTTCGA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgttatcttcgaAGATCGAGACCCGACGC chr2:219008008-Variant-T;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Variant T aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CTACGGACCTAT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAActacggacctatAGATCGAGACCCGACGC chr2:219008008-Variant-T;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Variant T aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CATGTCTCATCA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaTctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcatgtctcatcaAGATCGAGACCCGACGC chr2:219008008-Variant-T;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative G aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGCGATCCAAGA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgcgatccaagaAGATCGAGACCCGACGC chr2:219008008-Alternative-G;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative G aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GGACCATTATCA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAggaccattatcaAGATCGAGACCCGACGC chr2:219008008-Alternative-G;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative G aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CGACATCACCTT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcgacatcaccttAGATCGAGACCCGACGC chr2:219008008-Alternative-G;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative G aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac CACGGTACACCT CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAcacggtacacctAGATCGAGACCCGACGC chr2:219008008-Alternative-G;Patient-30 chr2:219008008-CT Inherited Patient-30 intergenic 0.000991 0.00154 NA NA NA CXCR2 17994 Alternative G aggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttac GAATCGTCCATA CGACGCGGTCTCTCTCTaggtgggcaggtcgtggggagcatttttgggctccgacaccatgacagcaGctagggttgagtgtttacagctcccaaaaccccagtgggcatgtgttacAGAGGGAGACGGACGTCTCAATAAgaatcgtccataAGATCGAGACCCGACGC chr2:219008008-Alternative-G;Patient-30 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative G aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GCAAGTGCGCAT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgcaagtgcgcatAGATCGAGACCCGACGC chr2:220014068-Alternative-G;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative G aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CGCGCAGATAAG CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAcgcgcagataagAGATCGAGACCCGACGC chr2:220014068-Alternative-G;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative G aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GTTGGACGGCTA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgttggacggctaAGATCGAGACCCGACGC chr2:220014068-Alternative-G;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative G aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CAAGTAGCCGAT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAcaagtagccgatAGATCGAGACCCGACGC chr2:220014068-Alternative-G;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative G aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GACGTTGTCTAA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcGggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgacgttgtctaaAGATCGAGACCCGACGC chr2:220014068-Alternative-G;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Variant T aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt ACGTCTGTTCAT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAacgtctgttcatAGATCGAGACCCGACGC chr2:220014068-Variant-T;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative A aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt ACCTGAGAACGC CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAacctgagaacgcAGATCGAGACCCGACGC chr2:220014068-Alternative-A;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative A aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GATGCGACTAAT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgatgcgactaatAGATCGAGACCCGACGC chr2:220014068-Alternative-A;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Reference C aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GATAAGCCGCGT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgataagccgcgtAGATCGAGACCCGACGC chr2:220014068-Reference-C;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Reference C aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GACATGGAACGA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgacatggaacgaAGATCGAGACCCGACGC chr2:220014068-Reference-C;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Reference C aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CTAAGGACGGCA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAActaaggacggcaAGATCGAGACCCGACGC chr2:220014068-Reference-C;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Variant T aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CATCTGGCTACC CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAcatctggctaccAGATCGAGACCCGACGC chr2:220014068-Variant-T;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative A aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GATCCTACTACC CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgatcctactaccAGATCGAGACCCGACGC chr2:220014068-Alternative-A;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Reference C aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt AGTACGTTCGAT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAagtacgttcgatAGATCGAGACCCGACGC chr2:220014068-Reference-C;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative A aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GCGCTACCTTGA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgcgctaccttgaAGATCGAGACCCGACGC chr2:220014068-Alternative-A;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Reference C aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GGCGATACCTGT CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcCggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAggcgatacctgtAGATCGAGACCCGACGC chr2:220014068-Reference-C;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Variant T aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GCGCAAGTGTAC CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAgcgcaagtgtacAGATCGAGACCCGACGC chr2:220014068-Variant-T;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Variant T aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CTCAAGCGTTCG CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAActcaagcgttcgAGATCGAGACCCGACGC chr2:220014068-Variant-T;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Alternative A aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt GGCCATATACTA CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcAggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAggccatatactaAGATCGAGACCCGACGC chr2:220014068-Alternative-A;Patient-68 chr2:220014068-CT Inherited Patient-68 intronic NHEJ1 0.000828 0.000126 -0.41 0.17 -1.14 NHEJ1 11518 Variant T aattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggatt CGAATAAGACCG CGACGCGGTCTCTCTCTaattcacctacacaaggtgtccattaacctgtcaaaaaaaataactaggcTggctcatgcctgtaatcccagcattttgggaggccaacgttggaggattAGAGGGAGACGGACGTCTCAATAAcgaataagaccgAGATCGAGACCCGACGC chr2:220014068-Variant-T;Patient-68 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative C aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GTATCGTTACCT CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgtatcgttacctAGATCGAGACCCGACGC chr2:220159440-Alternative-C;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative C aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CGTAGCCATATA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcgtagccatataAGATCGAGACCCGACGC chr2:220159440-Alternative-C;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative C aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg AGAGTTGGACTA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAagagttggactaAGATCGAGACCCGACGC chr2:220159440-Alternative-C;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative C aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg ATTCACGTGGAC CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAattcacgtggacAGATCGAGACCCGACGC chr2:220159440-Alternative-C;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative C aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GTAGCGACATGG CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccCggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgtagcgacatggAGATCGAGACCCGACGC chr2:220159440-Alternative-C;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative T aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CGTAATCTTGTC CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcgtaatcttgtcAGATCGAGACCCGACGC chr2:220159440-Alternative-T;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Variant A aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GGTGAACAGTAT CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAggtgaacagtatAGATCGAGACCCGACGC chr2:220159440-Variant-A;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Variant A aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CGAGATGTCGTC CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcgagatgtcgtcAGATCGAGACCCGACGC chr2:220159440-Variant-A;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Variant A aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GTCGAAGTACGG CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgtcgaagtacggAGATCGAGACCCGACGC chr2:220159440-Variant-A;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Variant A aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GTCGCGGCTATA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgtcgcggctataAGATCGAGACCCGACGC chr2:220159440-Variant-A;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative T aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GTAAGCGAGTCG CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgtaagcgagtcgAGATCGAGACCCGACGC chr2:220159440-Alternative-T;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative T aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg AGCTAAGGCTAA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAagctaaggctaaAGATCGAGACCCGACGC chr2:220159440-Alternative-T;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Reference G aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg AGCATGTCTCGG CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAagcatgtctcggAGATCGAGACCCGACGC chr2:220159440-Reference-G;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Variant A aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg GCACCTATTCTA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccAggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAgcacctattctaAGATCGAGACCCGACGC chr2:220159440-Variant-A;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Reference G aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CAGATTCTGCAA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcagattctgcaaAGATCGAGACCCGACGC chr2:220159440-Reference-G;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative T aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg ACGCACTAAGCG CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAacgcactaagcgAGATCGAGACCCGACGC chr2:220159440-Alternative-T;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Alternative T aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg ATTAAGACCGTC CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccTggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAattaagaccgtcAGATCGAGACCCGACGC chr2:220159440-Alternative-T;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Reference G aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CGAGGCATCCAA CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcgaggcatccaaAGATCGAGACCCGACGC chr2:220159440-Reference-G;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Reference G aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CATGCCTATGTT CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcatgcctatgttAGATCGAGACCCGACGC chr2:220159440-Reference-G;Patient-99 chr2:220159440-GA DeNovo Patient-99 intronic PTPRN NA 0.000198 0.32 7.47 -1.26 PTPRN 14854 Reference G aagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctgg CGTCGACACGAT CGACGCGGTCTCTCTCTaagcagagggccctctggaggaagcaggtggaggagaaggagccagtcccGggagcgtgagagggagggagcagagcagcagcggccggcgcggagctggAGAGGGAGACGGACGTCTCAATAAcgtcgacacgatAGATCGAGACCCGACGC chr2:220159440-Reference-G;Patient-99 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative G ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtct AGACTGGAACAC CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagactggaacacAGATCGAGACCCGACGC chr2:220314366-Alternative-G;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative A ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtct GTAGGAGATTGC CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAgtaggagattgcAGATCGAGACCCGACGC chr2:220314366-Alternative-A;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative G ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtct GGATAGCTACGA CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAggatagctacgaAGATCGAGACCCGACGC chr2:220314366-Alternative-G;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative G ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtct AGAACGGTCCGA CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagaacggtccgaAGATCGAGACCCGACGC chr2:220314366-Alternative-G;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative A ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtct GCGTAGAATAAC CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAgcgtagaataacAGATCGAGACCCGACGC chr2:220314366-Alternative-A;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Variant T ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtct CTATGACGCGGT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAActatgacgcggtAGATCGAGACCCGACGC chr2:220314366-Variant-T;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative G ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtct CATCTTGGCATT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAcatcttggcattAGATCGAGACCCGACGC chr2:220314366-Alternative-G;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Variant T ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtct AACAACTCGTGT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAaacaactcgtgtAGATCGAGACCCGACGC chr2:220314366-Variant-T;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Variant T ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtct GAGGTGGAACAG CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAgaggtggaacagAGATCGAGACCCGACGC chr2:220314366-Variant-T;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative A ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtct ACATGTTCGCAT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAacatgttcgcatAGATCGAGACCCGACGC chr2:220314366-Alternative-A;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Variant T ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtct ATAGCTAGACGC CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAatagctagacgcAGATCGAGACCCGACGC chr2:220314366-Variant-T;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Reference C ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtct AGCCGTACGGTT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagccgtacggttAGATCGAGACCCGACGC chr2:220314366-Reference-C;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative A ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtct ATCTCGCGATAA CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAatctcgcgataaAGATCGAGACCCGACGC chr2:220314366-Alternative-A;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Variant T ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtct GGTAGACGAACT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacTcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAggtagacgaactAGATCGAGACCCGACGC chr2:220314366-Variant-T;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative A ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtct AGTCGCCTGATT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacAcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagtcgcctgattAGATCGAGACCCGACGC chr2:220314366-Alternative-A;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Reference C ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtct CAGAGATGCGCT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAcagagatgcgctAGATCGAGACCCGACGC chr2:220314366-Reference-C;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Alternative G ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtct AGTGTATCAAGG CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacGcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagtgtatcaaggAGATCGAGACCCGACGC chr2:220314366-Alternative-G;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Reference C ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtct CGTCGGCTAACA CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAcgtcggctaacaAGATCGAGACCCGACGC chr2:220314366-Reference-C;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Reference C ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtct AGCTTGACTTCT CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAagcttgacttctAGATCGAGACCCGACGC chr2:220314366-Reference-C;Patient-66 chr2:220314366-CT DeNovo Patient-66 intronic SPEG 6.4e-05 9.9e-05 -0.33 0.29 -1.13 SPEG 14665 Reference C ttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtct AACCGGTCAACG CGACGCGGTCTCTCTCTttggatcaagaaccactactggggggatgcactggtgggaacctaaggacCcccctccatacccccaatccctctgttggggagagatggtagatggtctAGAGGGAGACGGACGTCTCAATAAaaccggtcaacgAGATCGAGACCCGACGC chr2:220314366-Reference-C;Patient-66 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Reference G ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc CTCAACCAACCT CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAActcaaccaacctAGATCGAGACCCGACGC chr2:220376430-Reference-G;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Reference G ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc CAGTATACACAC CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAcagtatacacacAGATCGAGACCCGACGC chr2:220376430-Reference-G;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Reference G ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AGCGGAGCCTTA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAagcggagccttaAGATCGAGACCCGACGC chr2:220376430-Reference-G;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative T ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GGCTCCTTATGC CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAggctccttatgcAGATCGAGACCCGACGC chr2:220376430-Alternative-T;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Variant A ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GTCAGATTATGC CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAgtcagattatgcAGATCGAGACCCGACGC chr2:220376430-Variant-A;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Reference G ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AGATAAGCCAAG CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAagataagccaagAGATCGAGACCCGACGC chr2:220376430-Reference-G;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative T ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GGTTGTGTTAGT CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAggttgtgttagtAGATCGAGACCCGACGC chr2:220376430-Alternative-T;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative T ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GCGCGAGTATCA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAgcgcgagtatcaAGATCGAGACCCGACGC chr2:220376430-Alternative-T;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative T ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AACGTGCACCGT CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAaacgtgcaccgtAGATCGAGACCCGACGC chr2:220376430-Alternative-T;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative T ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AAGGACTCGGCA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccTggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAaaggactcggcaAGATCGAGACCCGACGC chr2:220376430-Alternative-T;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Reference G ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GCAGACTAAGCA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccGggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAgcagactaagcaAGATCGAGACCCGACGC chr2:220376430-Reference-G;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative C ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AGCTATATCGGT CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAagctatatcggtAGATCGAGACCCGACGC chr2:220376430-Alternative-C;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Variant A ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc CGTTGACTCCGA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAcgttgactccgaAGATCGAGACCCGACGC chr2:220376430-Variant-A;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Variant A ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc CGTCGTCTAGCT CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAcgtcgtctagctAGATCGAGACCCGACGC chr2:220376430-Variant-A;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Variant A ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AGTACAGATTGC CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAagtacagattgcAGATCGAGACCCGACGC chr2:220376430-Variant-A;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative C ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc ATTGGCTCGACG CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAattggctcgacgAGATCGAGACCCGACGC chr2:220376430-Alternative-C;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative C ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc CTGCATCGGCTA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAActgcatcggctaAGATCGAGACCCGACGC chr2:220376430-Alternative-C;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative C ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AGGCGAATGTAA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAaggcgaatgtaaAGATCGAGACCCGACGC chr2:220376430-Alternative-C;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Alternative C ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc AAGCGGAGTCGA CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccCggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAaagcggagtcgaAGATCGAGACCCGACGC chr2:220376430-Alternative-C;Patient-70 chr2:220376430-GA Inherited Patient-70 intergenic 0.000959 0.000512821 0.74 11.36 4.27 CHPF 32078 Variant A ccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggc GGCTTAGTGGAG CGACGCGGTCTCTCTCTccagccacacttgtccctgatgcctcactgcaaggggcagctggtcccccAggagtgggtgggggaagcagggaggggtgggggagcttgggcgcagggcAGAGGGAGACGGACGTCTCAATAAggcttagtggagAGATCGAGACCCGACGC chr2:220376430-Variant-A;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Reference T agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggttt AATGATGGCGAT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAaatgatggcgatAGATCGAGACCCGACGC chr2:223253785-Reference-T;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative G agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GAGATAACGACG CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgagataacgacgAGATCGAGACCCGACGC chr2:223253785-Alternative-G;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Reference T agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CGCTACGTGCAT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAcgctacgtgcatAGATCGAGACCCGACGC chr2:223253785-Reference-T;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Reference T agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GCATTGAGTACT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgcattgagtactAGATCGAGACCCGACGC chr2:223253785-Reference-T;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative A agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggttt AAGGCGACACGA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAaaggcgacacgaAGATCGAGACCCGACGC chr2:223253785-Alternative-A;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative G agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CTGAGTTCGAAT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAActgagttcgaatAGATCGAGACCCGACGC chr2:223253785-Alternative-G;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Variant C agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GTCGAGAGATGT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgtcgagagatgtAGATCGAGACCCGACGC chr2:223253785-Variant-C;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Reference T agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggttt ACATCGCTTCTT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAacatcgcttcttAGATCGAGACCCGACGC chr2:223253785-Reference-T;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Variant C agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GTAACAGCGAAG CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgtaacagcgaagAGATCGAGACCCGACGC chr2:223253785-Variant-C;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative A agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggttt ATTCCTAGTACG CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAattcctagtacgAGATCGAGACCCGACGC chr2:223253785-Alternative-A;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative A agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CAAGCTGTGTCG CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAcaagctgtgtcgAGATCGAGACCCGACGC chr2:223253785-Alternative-A;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Variant C agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GGTAGGTGGTAA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAggtaggtggtaaAGATCGAGACCCGACGC chr2:223253785-Variant-C;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative A agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CATGTTGGTCAA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAcatgttggtcaaAGATCGAGACCCGACGC chr2:223253785-Alternative-A;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Variant C agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GAGCTGTTCATA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgagctgttcataAGATCGAGACCCGACGC chr2:223253785-Variant-C;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative G agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GATACGCGAGGT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgatacgcgaggtAGATCGAGACCCGACGC chr2:223253785-Alternative-G;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative G agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GCGATAGAACGA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgcgatagaacgaAGATCGAGACCCGACGC chr2:223253785-Alternative-G;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Reference T agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GGTGGCTATTGC CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtTcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAggtggctattgcAGATCGAGACCCGACGC chr2:223253785-Reference-T;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Variant C agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggttt GTATCCTACGAA CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtCcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAgtatcctacgaaAGATCGAGACCCGACGC chr2:223253785-Variant-C;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative G agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CGATTCAAGACG CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtGcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAAcgattcaagacgAGATCGAGACCCGACGC chr2:223253785-Alternative-G;Patient-70 chr2:223253785-TC Inherited Patient-70 intergenic 0.000383 0.001538462 0.54 9.73 0.16 PAX3 90069 Alternative A agagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggttt CTGAGAGTCTAT CGACGCGGTCTCTCTCTagagaggaatgcaggcagtctctaggagctggaaaaagctaggaatgggtAcacccctagaatgcccagaaggaactcagctctgccaataccttggtttAGAGGGAGACGGACGTCTCAATAActgagagtctatAGATCGAGACCCGACGC chr2:223253785-Alternative-A;Patient-70 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Variant C atttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc AGCTAACTCGGC CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAagctaactcggcAGATCGAGACCCGACGC chr2:224610875-Variant-C;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Variant C atttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GTTGTGCGTCCT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAgttgtgcgtcctAGATCGAGACCCGACGC chr2:224610875-Variant-C;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Variant C atttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CTGGTGATATGG CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAActggtgatatggAGATCGAGACCCGACGC chr2:224610875-Variant-C;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Variant C atttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc AATGAGGCTACA CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAaatgaggctacaAGATCGAGACCCGACGC chr2:224610875-Variant-C;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Variant C atttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GTAACGAGACAT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattCgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAgtaacgagacatAGATCGAGACCCGACGC chr2:224610875-Variant-C;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative A atttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc AATGCAATTGCG CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAaatgcaattgcgAGATCGAGACCCGACGC chr2:224610875-Alternative-A;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative A atttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GGCGAGATGGTT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAggcgagatggttAGATCGAGACCCGACGC chr2:224610875-Alternative-A;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative A atttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CGGACGATGCTA CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAcggacgatgctaAGATCGAGACCCGACGC chr2:224610875-Alternative-A;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative A atttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GTGACATCATGG CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAgtgacatcatggAGATCGAGACCCGACGC chr2:224610875-Alternative-A;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative A atttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CGTTGCATTGTT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattAgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAcgttgcattgttAGATCGAGACCCGACGC chr2:224610875-Alternative-A;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Reference T atttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CTGCTAGTTGTT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAActgctagttgttAGATCGAGACCCGACGC chr2:224610875-Reference-T;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Reference T atttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CGGTCAATCGCT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAcggtcaatcgctAGATCGAGACCCGACGC chr2:224610875-Reference-T;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Reference T atttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GATCGTATGAGT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAgatcgtatgagtAGATCGAGACCCGACGC chr2:224610875-Reference-T;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Reference T atttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc CTCTACGAGTGT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAActctacgagtgtAGATCGAGACCCGACGC chr2:224610875-Reference-T;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Reference T atttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc ATACGGCTGTCA CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattTgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAatacggctgtcaAGATCGAGACCCGACGC chr2:224610875-Reference-T;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative G atttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc AGATTACCAACC CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAagattaccaaccAGATCGAGACCCGACGC chr2:224610875-Alternative-G;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative G atttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc AGTAGTGGATGT CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAagtagtggatgtAGATCGAGACCCGACGC chr2:224610875-Alternative-G;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative G atttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc ACTTGGTTCGAA CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAacttggttcgaaAGATCGAGACCCGACGC chr2:224610875-Alternative-G;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative G atttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc ATTCAAGCGACC CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAattcaagcgaccAGATCGAGACCCGACGC chr2:224610875-Alternative-G;Patient-30 chr2:224610875-TC Inherited Patient-30 intergenic 7e-04 0.00103 NA NA NA AP1S3 91443 Alternative G atttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttccc GATTGACCATGA CGACGCGGTCTCTCTCTatttcccaatcaattttctgttcagttttatttttctaaatattaatattGgcaatttttactaaatatacaatcaattttctgtttagtgtgatttcccAGAGGGAGACGGACGTCTCAATAAgattgaccatgaAGATCGAGACCCGACGC chr2:224610875-Alternative-G;Patient-30 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative G ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GTCGTCGTCTAC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgtcgtcgtctacAGATCGAGACCCGACGC chr2:224688218-Alternative-G;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Variant C ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GTACGACGGTTC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgtacgacggttcAGATCGAGACCCGACGC chr2:224688218-Variant-C;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative G ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca ACTTGATGATGC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAacttgatgatgcAGATCGAGACCCGACGC chr2:224688218-Alternative-G;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative G ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GGCGTACTAAGG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAggcgtactaaggAGATCGAGACCCGACGC chr2:224688218-Alternative-G;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative G ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca CTTAAGTCGAGT CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAActtaagtcgagtAGATCGAGACCCGACGC chr2:224688218-Alternative-G;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Variant C ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca ACTTCTAGCCAA CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAacttctagccaaAGATCGAGACCCGACGC chr2:224688218-Variant-C;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative G ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca ACGCGACATTAT CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaGatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAacgcgacattatAGATCGAGACCCGACGC chr2:224688218-Alternative-G;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Variant C ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GGCTACCGGTAT CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAggctaccggtatAGATCGAGACCCGACGC chr2:224688218-Variant-C;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Reference T ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca AGGTTACTCGCG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAaggttactcgcgAGATCGAGACCCGACGC chr2:224688218-Reference-T;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Reference T ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GCAGACTCGTTA CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgcagactcgttaAGATCGAGACCCGACGC chr2:224688218-Reference-T;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Reference T ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GCGAACACATCG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgcgaacacatcgAGATCGAGACCCGACGC chr2:224688218-Reference-T;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Reference T ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca AGCAGTAAGCCA CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAagcagtaagccaAGATCGAGACCCGACGC chr2:224688218-Reference-T;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative A ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca ATAACGCGATAC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAataacgcgatacAGATCGAGACCCGACGC chr2:224688218-Alternative-A;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Reference T ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca CTAATGGATTGC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaTatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAActaatggattgcAGATCGAGACCCGACGC chr2:224688218-Reference-T;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Variant C ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca CTGTGTTCAGCG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAActgtgttcagcgAGATCGAGACCCGACGC chr2:224688218-Variant-C;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative A ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca CTCGTGGTCTGT CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAActcgtggtctgtAGATCGAGACCCGACGC chr2:224688218-Alternative-A;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Variant C ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GTACCGACCAGA CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaCatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgtaccgaccagaAGATCGAGACCCGACGC chr2:224688218-Variant-C;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative A ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GTACTAGCTCGG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgtactagctcggAGATCGAGACCCGACGC chr2:224688218-Alternative-A;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative A ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca GTCTCGCTAGTC CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAAgtctcgctagtcAGATCGAGACCCGACGC chr2:224688218-Alternative-A;Patient-79 chr2:224688218-TC DeNovo Patient-79 intronic AP1S3 NA 9.9e-05 -0.24 0.53 -1.87 AP1S3 14100 Alternative A ctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagca CTTATATGACGG CGACGCGGTCTCTCTCTctgaaagacattatattaagtgagacaagccaagcacagaaaaagtaccaAatgatcacacttaaatgtgaaatcaaagaaagatgaagtcatagaagcaAGAGGGAGACGGACGTCTCAATAActtatatgacggAGATCGAGACCCGACGC chr2:224688218-Alternative-A;Patient-79 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Variant T tagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta CGTATACAGACT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAcgtatacagactAGATCGAGACCCGACGC chr2:225540627-Variant-T;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Variant T tagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GTGAGGAGTAGG CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgtgaggagtaggAGATCGAGACCCGACGC chr2:225540627-Variant-T;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Variant T tagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta AAGCATCAGGCA CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAaagcatcaggcaAGATCGAGACCCGACGC chr2:225540627-Variant-T;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Reference C tagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GTCGCATATGGT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgtcgcatatggtAGATCGAGACCCGACGC chr2:225540627-Reference-C;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Variant T tagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GACGCTACGGAT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgacgctacggatAGATCGAGACCCGACGC chr2:225540627-Variant-T;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Reference C tagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GAGATAGCCGCA CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgagatagccgcaAGATCGAGACCCGACGC chr2:225540627-Reference-C;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative A tagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GGCTAGGATTAT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAggctaggattatAGATCGAGACCCGACGC chr2:225540627-Alternative-A;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative A tagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GTAATCGTTCCT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgtaatcgttcctAGATCGAGACCCGACGC chr2:225540627-Alternative-A;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Reference C tagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GACCGGAGAGAT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgaccggagagatAGATCGAGACCCGACGC chr2:225540627-Reference-C;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Variant T tagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GACCTCGTGCTT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagTtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgacctcgtgcttAGATCGAGACCCGACGC chr2:225540627-Variant-T;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative G tagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta AACCACGTACAC CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAaaccacgtacacAGATCGAGACCCGACGC chr2:225540627-Alternative-G;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Reference C tagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GATTAGTATCGG CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgattagtatcggAGATCGAGACCCGACGC chr2:225540627-Reference-C;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Reference C tagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta ACTAGTGACGTT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagCtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAactagtgacgttAGATCGAGACCCGACGC chr2:225540627-Reference-C;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative G tagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta AAGACCAACCGC CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAaagaccaaccgcAGATCGAGACCCGACGC chr2:225540627-Alternative-G;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative A tagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GCAAGTTAACGA CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgcaagttaacgaAGATCGAGACCCGACGC chr2:225540627-Alternative-A;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative A tagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GATGAACGTAAC CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgatgaacgtaacAGATCGAGACCCGACGC chr2:225540627-Alternative-A;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative A tagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GTTGGCGCACTT CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagAtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgttggcgcacttAGATCGAGACCCGACGC chr2:225540627-Alternative-A;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative G tagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta AGAAGATTCGCA CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAagaagattcgcaAGATCGAGACCCGACGC chr2:225540627-Alternative-G;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative G tagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta GAATTGTGCGCG CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAgaattgtgcgcgAGATCGAGACCCGACGC chr2:225540627-Alternative-G;Patient-16 chr2:225540627-CT DeNovo Patient-16 intergenic NA 0.000513 0.09 4.07 0.24 CUL3 90512 Alternative G tagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgta ATACGCACCACA CGACGCGGTCTCTCTCTtagttcaagatgagatttgggtggggacacagctaaaccatattaactagGtacctgaaaagtggaggaggagagttcccagcagagggaaaagcttgtaAGAGGGAGACGGACGTCTCAATAAatacgcaccacaAGATCGAGACCCGACGC chr2:225540627-Alternative-G;Patient-16 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative G ttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatat GAGAGTACTCTT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgagagtactcttAGATCGAGACCCGACGC chr2:227954351-Alternative-G;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Variant T ttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatat AATGGATTGCGT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAaatggattgcgtAGATCGAGACCCGACGC chr2:227954351-Variant-T;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative A ttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatat CATAGATTGTGC CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAcatagattgtgcAGATCGAGACCCGACGC chr2:227954351-Alternative-A;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative G ttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatat ATAGCGTCGTAA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAatagcgtcgtaaAGATCGAGACCCGACGC chr2:227954351-Alternative-G;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Variant T ttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatat ATCTGTACCGAT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAatctgtaccgatAGATCGAGACCCGACGC chr2:227954351-Variant-T;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative G ttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatat CGTTCGTGCATC CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAcgttcgtgcatcAGATCGAGACCCGACGC chr2:227954351-Alternative-G;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Variant T ttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatat CATCTGACGTGG CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAcatctgacgtggAGATCGAGACCCGACGC chr2:227954351-Variant-T;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative G ttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatat CTAGTAGCGCGT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAActagtagcgcgtAGATCGAGACCCGACGC chr2:227954351-Alternative-G;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Variant T ttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatat AGGCTCATCGGT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAaggctcatcggtAGATCGAGACCCGACGC chr2:227954351-Variant-T;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Variant T ttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatat CGGATCTAAGCG CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaTacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAcggatctaagcgAGATCGAGACCCGACGC chr2:227954351-Variant-T;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative G ttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatat ATTCCACGGCGA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaGacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAattccacggcgaAGATCGAGACCCGACGC chr2:227954351-Alternative-G;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative A ttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatat GATACAACAGCA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgatacaacagcaAGATCGAGACCCGACGC chr2:227954351-Alternative-A;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative A ttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatat GAGCATTCAAGA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgagcattcaagaAGATCGAGACCCGACGC chr2:227954351-Alternative-A;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative A ttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatat GTCCGTTAATGA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgtccgttaatgaAGATCGAGACCCGACGC chr2:227954351-Alternative-A;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Reference C ttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatat GCATATCGCGGT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgcatatcgcggtAGATCGAGACCCGACGC chr2:227954351-Reference-C;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Alternative A ttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatat AATAGAGGCGGC CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaAacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAaatagaggcggcAGATCGAGACCCGACGC chr2:227954351-Alternative-A;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Reference C ttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatat ACCGTGGTAGCT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAaccgtggtagctAGATCGAGACCCGACGC chr2:227954351-Reference-C;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Reference C ttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatat AAGATAGGACGA CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAaagataggacgaAGATCGAGACCCGACGC chr2:227954351-Reference-C;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Reference C ttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatat CACGGCTAGCTT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAcacggctagcttAGATCGAGACCCGACGC chr2:227954351-Reference-C;Patient-39 chr2:227954351-CT DeNovo Patient-39 intronic COL4A4 NA 8.38e-05 -0.18 0.82 -1.52 COL4A4 74923 Reference C ttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatat GATGGTTAAGGT CGACGCGGTCTCTCTCTttccatatatatatatatatatatacatacatatatataaatatataagaCacaaggctttgacttttataatatataagacacaaggctttataaatatAGAGGGAGACGGACGTCTCAATAAgatggttaaggtAGATCGAGACCCGACGC chr2:227954351-Reference-C;Patient-39 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative C tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaagg AGACCTGTGCAC CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAagacctgtgcacAGATCGAGACCCGACGC chr2:227991337-Alternative-C;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative C tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaagg AGGCTATAACAG CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAaggctataacagAGATCGAGACCCGACGC chr2:227991337-Alternative-C;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative A tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaagg GCGCGATCGAAT CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgcgcgatcgaatAGATCGAGACCCGACGC chr2:227991337-Alternative-A;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative C tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaagg ATAAGATCGCAG CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAataagatcgcagAGATCGAGACCCGACGC chr2:227991337-Alternative-C;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative C tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaagg GATTGCGAGTTA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgattgcgagttaAGATCGAGACCCGACGC chr2:227991337-Alternative-C;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative C tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaagg AACGAATCTCGT CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgCtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAaacgaatctcgtAGATCGAGACCCGACGC chr2:227991337-Alternative-C;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Reference G tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaagg GTACGCGTAATA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgtacgcgtaataAGATCGAGACCCGACGC chr2:227991337-Reference-G;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative A tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaagg GTCATGATGCTA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgtcatgatgctaAGATCGAGACCCGACGC chr2:227991337-Alternative-A;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Reference G tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaagg ATAGGACCGCCA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAataggaccgccaAGATCGAGACCCGACGC chr2:227991337-Reference-G;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Reference G tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaagg ATAACTGAAGCG CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAataactgaagcgAGATCGAGACCCGACGC chr2:227991337-Reference-G;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative A tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaagg AAGTCGTTATGC CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAaagtcgttatgcAGATCGAGACCCGACGC chr2:227991337-Alternative-A;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative A tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaagg CGGATGTGGAGA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAcggatgtggagaAGATCGAGACCCGACGC chr2:227991337-Alternative-A;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Alternative A tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaagg AGCGGTCAACGT CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgAtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAagcggtcaacgtAGATCGAGACCCGACGC chr2:227991337-Alternative-A;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Variant T tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaagg GTTGAGTTGAAC CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgttgagttgaacAGATCGAGACCCGACGC chr2:227991337-Variant-T;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Variant T tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaagg GATGCTAAGCTT CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgatgctaagcttAGATCGAGACCCGACGC chr2:227991337-Variant-T;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Variant T tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaagg ATAGAGTCCGTT CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAatagagtccgttAGATCGAGACCCGACGC chr2:227991337-Variant-T;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Reference G tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaagg GTATCGATAGTC CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAgtatcgatagtcAGATCGAGACCCGACGC chr2:227991337-Reference-G;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Variant T tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaagg CAGGTAGCGAAG CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAcaggtagcgaagAGATCGAGACCCGACGC chr2:227991337-Variant-T;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Reference G tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaagg CGGCATAGAGCA CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgGtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAcggcatagagcaAGATCGAGACCCGACGC chr2:227991337-Reference-G;Patient-82 chr2:227991337-GT DeNovo Patient-82 intronic COL4A4 0.000191 4.19e-05 -0.21 0.66 -2.55 COL4A4 37937 Variant T tttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaagg CGGAGGATCTAC CGACGCGGTCTCTCTCTtttctccttttttacaactgtgaagactttgtgattttgtatttagtgcgTtttttttgtattttaataagtattttgctacatgataaatttttaaaggAGAGGGAGACGGACGTCTCAATAAcggaggatctacAGATCGAGACCCGACGC chr2:227991337-Variant-T;Patient-82 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Reference C aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt CATCGTTGACGG CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAcatcgttgacggAGATCGAGACCCGACGC chr2:2281548-Reference-C;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Reference C aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GTGTTATCGGTT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgtgttatcggttAGATCGAGACCCGACGC chr2:2281548-Reference-C;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative A aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GCAGAAGAGTGT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgcagaagagtgtAGATCGAGACCCGACGC chr2:2281548-Alternative-A;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative T aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GACTAAGTCAGT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgactaagtcagtAGATCGAGACCCGACGC chr2:2281548-Alternative-T;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative A aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GCGATCCTGCAT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgcgatcctgcatAGATCGAGACCCGACGC chr2:2281548-Alternative-A;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Reference C aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AACGTACACGAC CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAaacgtacacgacAGATCGAGACCCGACGC chr2:2281548-Reference-C;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Reference C aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt ATTCATAGGTCG CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAattcataggtcgAGATCGAGACCCGACGC chr2:2281548-Reference-C;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative T aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt CGTAGCGACATC CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAcgtagcgacatcAGATCGAGACCCGACGC chr2:2281548-Alternative-T;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative T aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AGGTAGGCGAAC CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAaggtaggcgaacAGATCGAGACCCGACGC chr2:2281548-Alternative-T;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative A aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GACATCGTAGTT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgacatcgtagttAGATCGAGACCCGACGC chr2:2281548-Alternative-A;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative T aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AGCTCGAGCTGT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAagctcgagctgtAGATCGAGACCCGACGC chr2:2281548-Alternative-T;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative A aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt ATAGACGTAGCA CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAatagacgtagcaAGATCGAGACCCGACGC chr2:2281548-Alternative-A;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative A aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GCCTTATACTGA CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccAtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgccttatactgaAGATCGAGACCCGACGC chr2:2281548-Alternative-A;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Reference C aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GGTCATGGTTCT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccCtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAggtcatggttctAGATCGAGACCCGACGC chr2:2281548-Reference-C;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Alternative T aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AGCGTAAGGTAA CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccTtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAagcgtaaggtaaAGATCGAGACCCGACGC chr2:2281548-Alternative-T;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Variant G aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt GCGTATGAGTAT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAgcgtatgagtatAGATCGAGACCCGACGC chr2:2281548-Variant-G;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Variant G aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt CGGCGACATAAC CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAcggcgacataacAGATCGAGACCCGACGC chr2:2281548-Variant-G;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Variant G aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AGTTCAACGTAC CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAagttcaacgtacAGATCGAGACCCGACGC chr2:2281548-Variant-G;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Variant G aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt CGGTCATAACAT CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAcggtcataacatAGATCGAGACCCGACGC chr2:2281548-Variant-G;Patient-71 chr2:2281548-CG DeNovo Patient-71 intronic MYT1L NA 0.000319 -0.19 0.75 -0.4 MYT1L 53417 Variant G aaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagt AAGCAGCAACTA CGACGCGGTCTCTCTCTaaatggtcatataacaattgtaattatagaaaaaaatggggttgtataccGtttgcaacagaataaaaaagaaagaaaaaatacccacgatacagccagtAGAGGGAGACGGACGTCTCAATAAaagcagcaactaAGATCGAGACCCGACGC chr2:2281548-Variant-G;Patient-71 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Variant C cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CTGAACGCGTGA CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAActgaacgcgtgaAGATCGAGACCCGACGC chr2:228691817-Variant-C;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Variant C cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CGTATCTCATGT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcgtatctcatgtAGATCGAGACCCGACGC chr2:228691817-Variant-C;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Variant C cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttac AAGCGCGTACCT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAaagcgcgtacctAGATCGAGACCCGACGC chr2:228691817-Variant-C;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Variant C cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CAGACACTCGGT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcagacactcggtAGATCGAGACCCGACGC chr2:228691817-Variant-C;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Variant C cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GCAACGGCTTGT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcCtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAgcaacggcttgtAGATCGAGACCCGACGC chr2:228691817-Variant-C;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative A cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttac ACCTGAACGATT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAacctgaacgattAGATCGAGACCCGACGC chr2:228691817-Alternative-A;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative A cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GGCAGTTCGCAT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAggcagttcgcatAGATCGAGACCCGACGC chr2:228691817-Alternative-A;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative A cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CGGATGAACCGA CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcggatgaaccgaAGATCGAGACCCGACGC chr2:228691817-Alternative-A;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative A cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CGTTAACCACAG CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcgttaaccacagAGATCGAGACCCGACGC chr2:228691817-Alternative-A;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative A cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttac AGCTTAGCGATT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcAtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAagcttagcgattAGATCGAGACCCGACGC chr2:228691817-Alternative-A;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Reference T cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CAGCGATTCATA CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcagcgattcataAGATCGAGACCCGACGC chr2:228691817-Reference-T;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Reference T cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CAGCGGAGTCAT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcagcggagtcatAGATCGAGACCCGACGC chr2:228691817-Reference-T;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Reference T cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GGTTATTCATGG CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAggttattcatggAGATCGAGACCCGACGC chr2:228691817-Reference-T;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Reference T cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CGCGAACATATA CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAcgcgaacatataAGATCGAGACCCGACGC chr2:228691817-Reference-T;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Reference T cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttac ACGCTTCTTGTT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcTtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAacgcttcttgttAGATCGAGACCCGACGC chr2:228691817-Reference-T;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative G cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttac ACCGACCTATCG CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAaccgacctatcgAGATCGAGACCCGACGC chr2:228691817-Alternative-G;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative G cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GACGAGTTCGTC CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAgacgagttcgtcAGATCGAGACCCGACGC chr2:228691817-Alternative-G;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative G cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GGAGGTTCTGCT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAggaggttctgctAGATCGAGACCCGACGC chr2:228691817-Alternative-G;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative G cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttac GCGTAGCCATTC CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAAgcgtagccattcAGATCGAGACCCGACGC chr2:228691817-Alternative-G;Patient-30 chr2:228691817-TC Inherited Patient-30 intergenic 6.4e-05 0.000513 NA NA NA CCL20 13258 Alternative G cctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttac CTCATCGCACGT CGACGCGGTCTCTCTCTcctcagcttggggtgcagggccttccatgatccagttctcatcctgcctcGtagagtgatttatgtgtttcacatactccaggcacactggcttctttacAGAGGGAGACGGACGTCTCAATAActcatcgcacgtAGATCGAGACCCGACGC chr2:228691817-Alternative-G;Patient-30 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Variant T caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ATACCAACCACG CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAataccaaccacgAGATCGAGACCCGACGC chr2:231505325-Variant-T;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative G caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GCAGCAGCTAAG CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgcagcagctaagAGATCGAGACCCGACGC chr2:231505325-Alternative-G;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative G caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc CTAACCGTAAGT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAActaaccgtaagtAGATCGAGACCCGACGC chr2:231505325-Alternative-G;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative G caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc CATGTGAATTGC CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAcatgtgaattgcAGATCGAGACCCGACGC chr2:231505325-Alternative-G;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Variant T caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ATCGTCCTACAC CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAatcgtcctacacAGATCGAGACCCGACGC chr2:231505325-Variant-T;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative A caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ACATGAGTGGAT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAacatgagtggatAGATCGAGACCCGACGC chr2:231505325-Alternative-A;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Variant T caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ATTGTGACGGAA CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAattgtgacggaaAGATCGAGACCCGACGC chr2:231505325-Variant-T;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Variant T caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GGTCAACTGTGC CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAggtcaactgtgcAGATCGAGACCCGACGC chr2:231505325-Variant-T;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative A caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GTAGCTTGACGA CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgtagcttgacgaAGATCGAGACCCGACGC chr2:231505325-Alternative-A;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative A caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GCGTATTAGTGT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgcgtattagtgtAGATCGAGACCCGACGC chr2:231505325-Alternative-A;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Variant T caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ATCGCGCTTGCA CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcTcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAatcgcgcttgcaAGATCGAGACCCGACGC chr2:231505325-Variant-T;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative A caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GCAGTTACACTT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgcagttacacttAGATCGAGACCCGACGC chr2:231505325-Alternative-A;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative G caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc CGACGATCATTA CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAcgacgatcattaAGATCGAGACCCGACGC chr2:231505325-Alternative-G;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative G caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GACGCTAAGACG CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcGcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgacgctaagacgAGATCGAGACCCGACGC chr2:231505325-Alternative-G;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Alternative A caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc AGCAAGTACCTT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcAcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAagcaagtaccttAGATCGAGACCCGACGC chr2:231505325-Alternative-A;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Reference C caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc ATCGAATGTCGT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAatcgaatgtcgtAGATCGAGACCCGACGC chr2:231505325-Reference-C;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Reference C caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc AGCTTCTCGTGC CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAagcttctcgtgcAGATCGAGACCCGACGC chr2:231505325-Reference-C;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Reference C caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc AGCTCGCATCGA CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAagctcgcatcgaAGATCGAGACCCGACGC chr2:231505325-Reference-C;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Reference C caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc GATACGATGAGT CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAgatacgatgagtAGATCGAGACCCGACGC chr2:231505325-Reference-C;Patient-41 chr2:231505325-CT DeNovo Patient-41 intergenic NA 0.000513 0.07 3.69 0.37 CAB39 72231 Reference C caagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttcc CGTAGCCAATCG CGACGCGGTCTCTCTCTcaagggttgctagcaacaccagaagctgtgagaaacaaggaagcgttctcCcccagggagcaccacctgctgacgtctttagctcagatttctagcttccAGAGGGAGACGGACGTCTCAATAAcgtagccaatcgAGATCGAGACCCGACGC chr2:231505325-Reference-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative G aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca ATTACGCGATCA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAattacgcgatcaAGATCGAGACCCGACGC chr2:231513192-Alternative-G;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Reference A aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca ACCATGCTACGC CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAaccatgctacgcAGATCGAGACCCGACGC chr2:231513192-Reference-A;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative G aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca AGAGTGCGGACA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAagagtgcggacaAGATCGAGACCCGACGC chr2:231513192-Alternative-G;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative T aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CAGCTTACATCA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcagcttacatcaAGATCGAGACCCGACGC chr2:231513192-Alternative-T;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Variant C aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca AATATGTGGACG CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAaatatgtggacgAGATCGAGACCCGACGC chr2:231513192-Variant-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Variant C aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CGTACTTGTAAG CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcgtacttgtaagAGATCGAGACCCGACGC chr2:231513192-Variant-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative T aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca AGCAGCTTAAGA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAagcagcttaagaAGATCGAGACCCGACGC chr2:231513192-Alternative-T;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Variant C aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca ACGTGTCGAGCT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAacgtgtcgagctAGATCGAGACCCGACGC chr2:231513192-Variant-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Reference A aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CGATCATATACG CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcgatcatatacgAGATCGAGACCCGACGC chr2:231513192-Reference-A;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Variant C aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca GACTGTGTTCAA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAgactgtgttcaaAGATCGAGACCCGACGC chr2:231513192-Variant-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Reference A aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca ACAACATCGCGT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAacaacatcgcgtAGATCGAGACCCGACGC chr2:231513192-Reference-A;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative G aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca GGCGTCTGACTT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAggcgtctgacttAGATCGAGACCCGACGC chr2:231513192-Alternative-G;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative G aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CATTAGCGCCGT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcattagcgccgtAGATCGAGACCCGACGC chr2:231513192-Alternative-G;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Reference A aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca GTCGCATTCTGG CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAgtcgcattctggAGATCGAGACCCGACGC chr2:231513192-Reference-A;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative T aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca GGTACGCCTAAC CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAggtacgcctaacAGATCGAGACCCGACGC chr2:231513192-Alternative-T;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative T aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CGTGCCGAAGAT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcgtgccgaagatAGATCGAGACCCGACGC chr2:231513192-Alternative-T;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative G aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CTTACGTGTCTA CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaGagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAActtacgtgtctaAGATCGAGACCCGACGC chr2:231513192-Alternative-G;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Alternative T aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca AGCTTAGGAGAT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaTagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAagcttaggagatAGATCGAGACCCGACGC chr2:231513192-Alternative-T;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Variant C aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca AACTTGGTATCG CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaCagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAaacttggtatcgAGATCGAGACCCGACGC chr2:231513192-Variant-C;Patient-41 chr2:231513192-AC DeNovo Patient-41 intergenic NA 0.000513 0.22 6.08 1.69 CAB39 64364 Reference A aagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatca CGCCTTGGTAGT CGACGCGGTCTCTCTCTaagtaacccagttttaaaatggacaaaggacttgaatagacatttctccaAagaagacatacaaacggccaacgagcacacgagaagatgttcaacatcaAGAGGGAGACGGACGTCTCAATAAcgccttggtagtAGATCGAGACCCGACGC chr2:231513192-Reference-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative A cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccct ATTGCAGTGCTT CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAattgcagtgcttAGATCGAGACCCGACGC chr2:231531926-Alternative-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Reference C cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccct AGGCGGCATCAA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAaggcggcatcaaAGATCGAGACCCGACGC chr2:231531926-Reference-C;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Reference C cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CGTGAACGTGAA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAcgtgaacgtgaaAGATCGAGACCCGACGC chr2:231531926-Reference-C;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative A cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CTCGGCTACATT CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAActcggctacattAGATCGAGACCCGACGC chr2:231531926-Alternative-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Reference C cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CGTCGTAAGCGA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAcgtcgtaagcgaAGATCGAGACCCGACGC chr2:231531926-Reference-C;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative G cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccct ACTTCTGACGTT CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAacttctgacgttAGATCGAGACCCGACGC chr2:231531926-Alternative-G;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative A cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccct ACCGATAACGCG CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAaccgataacgcgAGATCGAGACCCGACGC chr2:231531926-Alternative-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative G cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccct ACCATTATACGC CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAaccattatacgcAGATCGAGACCCGACGC chr2:231531926-Alternative-G;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative G cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CGGCTTCGGATA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAcggcttcggataAGATCGAGACCCGACGC chr2:231531926-Alternative-G;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative G cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GAATGCCGGTTA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAgaatgccggttaAGATCGAGACCCGACGC chr2:231531926-Alternative-G;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative A cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GGTATGTACCGA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAggtatgtaccgaAGATCGAGACCCGACGC chr2:231531926-Alternative-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Variant T cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccct ATAAGTCGCTGT CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAataagtcgctgtAGATCGAGACCCGACGC chr2:231531926-Variant-T;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative G cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccct AACTAACGGCAT CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaGcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAaactaacggcatAGATCGAGACCCGACGC chr2:231531926-Alternative-G;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Reference C cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GGTCTGTACTTA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAggtctgtacttaAGATCGAGACCCGACGC chr2:231531926-Reference-C;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Reference C cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GAGTAGGACTTA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaCcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAgagtaggacttaAGATCGAGACCCGACGC chr2:231531926-Reference-C;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Variant T cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GATGCGTACTAA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAgatgcgtactaaAGATCGAGACCCGACGC chr2:231531926-Variant-T;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Variant T cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccct GTTCGATCCAAC CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAgttcgatccaacAGATCGAGACCCGACGC chr2:231531926-Variant-T;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Variant T cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CGAATCCGACAG CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAcgaatccgacagAGATCGAGACCCGACGC chr2:231531926-Variant-T;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Alternative A cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccct CACGAGATTAGG CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaAcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAcacgagattaggAGATCGAGACCCGACGC chr2:231531926-Alternative-A;Patient-41 chr2:231531926-CT DeNovo Patient-41 intergenic NA 0.000513 0.1 4.29 0.98 CAB39 45630 Variant T cgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccct AGCCGGTGATCA CGACGCGGTCTCTCTCTcgactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaTcatgctccctccaaaagcactgggaaggatccattccaggcctctccctAGAGGGAGACGGACGTCTCAATAAagccggtgatcaAGATCGAGACCCGACGC chr2:231531926-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Variant T actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CATCTAGCTAAC CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAcatctagctaacAGATCGAGACCCGACGC chr2:231531928-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Variant T actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GAATCAACCTAC CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgaatcaacctacAGATCGAGACCCGACGC chr2:231531928-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Variant T actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GACCTGTCAACG CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgacctgtcaacgAGATCGAGACCCGACGC chr2:231531928-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Variant T actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GTATACCGCCAC CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgtataccgccacAGATCGAGACCCGACGC chr2:231531928-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Reference A actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CTAAGACCATAC CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAActaagaccatacAGATCGAGACCCGACGC chr2:231531928-Reference-A;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative C actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctga ATCTGCCGGCTT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAatctgccggcttAGATCGAGACCCGACGC chr2:231531928-Alternative-C;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Reference A actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GTGCTAAGATCA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgtgctaagatcaAGATCGAGACCCGACGC chr2:231531928-Reference-A;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Reference A actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GCGACGCAAGAT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgcgacgcaagatAGATCGAGACCCGACGC chr2:231531928-Reference-A;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative C actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GTGAACAGCGGT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgtgaacagcggtAGATCGAGACCCGACGC chr2:231531928-Alternative-C;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Variant T actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctga AACCGGTGGAGA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccTtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAaaccggtggagaAGATCGAGACCCGACGC chr2:231531928-Variant-T;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Reference A actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CACGTGAGAATA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAcacgtgagaataAGATCGAGACCCGACGC chr2:231531928-Reference-A;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative C actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CGTTCATGGTAA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAcgttcatggtaaAGATCGAGACCCGACGC chr2:231531928-Alternative-C;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Reference A actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctga AACGGTCGATGT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccAtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAaacggtcgatgtAGATCGAGACCCGACGC chr2:231531928-Reference-A;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative C actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CACGTGATCAAG CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAcacgtgatcaagAGATCGAGACCCGACGC chr2:231531928-Alternative-C;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative G actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GTTGGATTCGAT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgttggattcgatAGATCGAGACCCGACGC chr2:231531928-Alternative-G;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative G actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctga GCGACGACTAGA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAgcgacgactagaAGATCGAGACCCGACGC chr2:231531928-Alternative-G;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative G actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctga AAGGTTGCTCTA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAaaggttgctctaAGATCGAGACCCGACGC chr2:231531928-Alternative-G;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative G actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CTCTTAGGCCGT CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAActcttaggccgtAGATCGAGACCCGACGC chr2:231531928-Alternative-G;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative G actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctga CTGCTCACACCA CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccGtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAActgctcacaccaAGATCGAGACCCGACGC chr2:231531928-Alternative-G;Patient-41 chr2:231531928-AT DeNovo Patient-41 intergenic NA 0.000513 -0.04 2.02 -0.53 CAB39 45628 Alternative C actcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctga AATAACAGACGC CGACGCGGTCTCTCTCTactcacaggtctggaagccagaagcctgaaatcgaggtgttagcagcaccCtgctccctccaaaagcactgggaaggatccattccaggcctctccctgaAGAGGGAGACGGACGTCTCAATAAaataacagacgcAGATCGAGACCCGACGC chr2:231531928-Alternative-C;Patient-41 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Reference C aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GCATCCATTCCA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAgcatccattccaAGATCGAGACCCGACGC chr2:231778895-Reference-C;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Reference C aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg ACGCCGGACTAA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAacgccggactaaAGATCGAGACCCGACGC chr2:231778895-Reference-C;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Reference C aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg ACCTTAGAGCTA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAaccttagagctaAGATCGAGACCCGACGC chr2:231778895-Reference-C;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Reference C aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AAGCATACGTCC CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAaagcatacgtccAGATCGAGACCCGACGC chr2:231778895-Reference-C;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Reference C aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GGATAATGACCA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaCgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAggataatgaccaAGATCGAGACCCGACGC chr2:231778895-Reference-C;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative A aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AAGACCGGAGGT CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAaagaccggaggtAGATCGAGACCCGACGC chr2:231778895-Alternative-A;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative A aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg ACTACCAGACTA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAactaccagactaAGATCGAGACCCGACGC chr2:231778895-Alternative-A;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative A aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg CGTACTCGGAAC CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAcgtactcggaacAGATCGAGACCCGACGC chr2:231778895-Alternative-A;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative A aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AGACGTAGACCA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAagacgtagaccaAGATCGAGACCCGACGC chr2:231778895-Alternative-A;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative A aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AAGTGCTCGAAG CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaAgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAaagtgctcgaagAGATCGAGACCCGACGC chr2:231778895-Alternative-A;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Variant T aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GCGAGACTGTCA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAgcgagactgtcaAGATCGAGACCCGACGC chr2:231778895-Variant-T;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Variant T aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg ACGATACCAAGA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAacgataccaagaAGATCGAGACCCGACGC chr2:231778895-Variant-T;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Variant T aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg ATTGCTGGCGAC CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAattgctggcgacAGATCGAGACCCGACGC chr2:231778895-Variant-T;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Variant T aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg CATTCGTACATC CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAcattcgtacatcAGATCGAGACCCGACGC chr2:231778895-Variant-T;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Variant T aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AGTTCATCGTCT CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaTgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAagttcatcgtctAGATCGAGACCCGACGC chr2:231778895-Variant-T;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative G aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GATTACTCAACG CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAgattactcaacgAGATCGAGACCCGACGC chr2:231778895-Alternative-G;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative G aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GGTAATGCTCTA CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAggtaatgctctaAGATCGAGACCCGACGC chr2:231778895-Alternative-G;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative G aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AGCTGCCGTTGT CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAagctgccgttgtAGATCGAGACCCGACGC chr2:231778895-Alternative-G;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative G aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg GGATACGCTCGT CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAggatacgctcgtAGATCGAGACCCGACGC chr2:231778895-Alternative-G;Patient-30 chr2:231778895-CT Inherited Patient-30 intronic GPR55 0.00035 0.00016 NA NA NA GPR55 11045 Alternative G aagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcagg AACAATTGGACG CGACGCGGTCTCTCTCTaagtccaacccaaacccagacacagtgtgtggctgaattgggggaacaaaGgaataacaacgggaggaaagtgatctgacagaaagcacacaacctcaggAGAGGGAGACGGACGTCTCAATAAaacaattggacgAGATCGAGACCCGACGC chr2:231778895-Alternative-G;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Reference C ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CAAGACAGTACC CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcaagacagtaccAGATCGAGACCCGACGC chr2:232055623-Reference-C;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Reference C ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AGCTGTCTTCAT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAagctgtcttcatAGATCGAGACCCGACGC chr2:232055623-Reference-C;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Reference C ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CGCGTCGGATAT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcgcgtcggatatAGATCGAGACCCGACGC chr2:232055623-Reference-C;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Reference C ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CATCGATAACGG CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcatcgataacggAGATCGAGACCCGACGC chr2:232055623-Reference-C;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Reference C ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AAGTCGTTCTGA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccCgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAaagtcgttctgaAGATCGAGACCCGACGC chr2:232055623-Reference-C;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative A ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CAGATGTGGACG CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcagatgtggacgAGATCGAGACCCGACGC chr2:232055623-Alternative-A;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative A ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct GAAGAGTAGAGT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAgaagagtagagtAGATCGAGACCCGACGC chr2:232055623-Alternative-A;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative A ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CAGGACGTGTGA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcaggacgtgtgaAGATCGAGACCCGACGC chr2:232055623-Alternative-A;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative A ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CACGCCTGAGAA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcacgcctgagaaAGATCGAGACCCGACGC chr2:232055623-Alternative-A;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative A ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AATGACTGGCAA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccAgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAaatgactggcaaAGATCGAGACCCGACGC chr2:232055623-Alternative-A;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Variant T ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AACAGGTAGCTA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAaacaggtagctaAGATCGAGACCCGACGC chr2:232055623-Variant-T;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Variant T ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AAGATCCTACCA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAaagatcctaccaAGATCGAGACCCGACGC chr2:232055623-Variant-T;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Variant T ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct GCGTATGGATGG CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAgcgtatggatggAGATCGAGACCCGACGC chr2:232055623-Variant-T;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Variant T ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct ATCGGACCACGT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAatcggaccacgtAGATCGAGACCCGACGC chr2:232055623-Variant-T;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Variant T ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct GTCAACGCATTA CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccTgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAgtcaacgcattaAGATCGAGACCCGACGC chr2:232055623-Variant-T;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative G ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct AGGCTTGGAACG CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAaggcttggaacgAGATCGAGACCCGACGC chr2:232055623-Alternative-G;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative G ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CTATAGAATCGG CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAActatagaatcggAGATCGAGACCCGACGC chr2:232055623-Alternative-G;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative G ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct ACATCGACTGGT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAacatcgactggtAGATCGAGACCCGACGC chr2:232055623-Alternative-G;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative G ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct ACTCGGCGAACT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAactcggcgaactAGATCGAGACCCGACGC chr2:232055623-Alternative-G;Patient-30 chr2:232055623-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA HTR2B 65798 Alternative G ccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtct CGTCGGACAAGT CGACGCGGTCTCTCTCTccctcgctcgcttctcttggctggaggccgcgggacgggctcgctcccccGgccgggacccagatcgggaactggcccccacgccagtctggctgcgtctAGAGGGAGACGGACGTCTCAATAAcgtcggacaagtAGATCGAGACCCGACGC chr2:232055623-Alternative-G;Patient-30 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative A aactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc CATCTACGACGG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAcatctacgacggAGATCGAGACCCGACGC chr2:232068132-Alternative-A;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative G aactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc ACGGCGCAATCA CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAacggcgcaatcaAGATCGAGACCCGACGC chr2:232068132-Alternative-G;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative A aactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc AGTGACATAGGT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAagtgacataggtAGATCGAGACCCGACGC chr2:232068132-Alternative-A;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative A aactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc CTCTGCTTGTGG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAActctgcttgtggAGATCGAGACCCGACGC chr2:232068132-Alternative-A;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Reference C aactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GCGATAGGCAGT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAgcgataggcagtAGATCGAGACCCGACGC chr2:232068132-Reference-C;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative G aactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc CGTGCACAACGT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAcgtgcacaacgtAGATCGAGACCCGACGC chr2:232068132-Alternative-G;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative A aactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GACTGACAGCCA CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAgactgacagccaAGATCGAGACCCGACGC chr2:232068132-Alternative-A;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Reference C aactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc ACTCATTGAAGG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAactcattgaaggAGATCGAGACCCGACGC chr2:232068132-Reference-C;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Reference C aactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GCCTGAGGTGTT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAgcctgaggtgttAGATCGAGACCCGACGC chr2:232068132-Reference-C;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative G aactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc CGCATGCTCCAA CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAcgcatgctccaaAGATCGAGACCCGACGC chr2:232068132-Alternative-G;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Variant T aactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc AGCCTGAGAATA CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAagcctgagaataAGATCGAGACCCGACGC chr2:232068132-Variant-T;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Reference C aactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GGTCTTAGTGCG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAggtcttagtgcgAGATCGAGACCCGACGC chr2:232068132-Reference-C;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative A aactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc AGCCAATCCGGT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagAgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAagccaatccggtAGATCGAGACCCGACGC chr2:232068132-Alternative-A;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Reference C aactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GGAACGATAGTT CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagCgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAggaacgatagttAGATCGAGACCCGACGC chr2:232068132-Reference-C;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative G aactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc ACGAATAACACG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAacgaataacacgAGATCGAGACCCGACGC chr2:232068132-Alternative-G;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Variant T aactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc CAGATAGTCTAC CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAcagatagtctacAGATCGAGACCCGACGC chr2:232068132-Variant-T;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Variant T aactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GTTACACGTCGG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAgttacacgtcggAGATCGAGACCCGACGC chr2:232068132-Variant-T;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Alternative G aactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc ACTCTGCGATAA CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagGgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAactctgcgataaAGATCGAGACCCGACGC chr2:232068132-Alternative-G;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Variant T aactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc GATATACTGACC CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAgatatactgaccAGATCGAGACCCGACGC chr2:232068132-Variant-T;Patient-54 chr2:232068132-CT DeNovo Patient-54 intronic ARMC9 3.2e-05 0.00016 -0.14 1.08 -0.94 ARMC9 4871 Variant T aactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggc AATCGCGTGACG CGACGCGGTCTCTCTCTaactggtctgcagattgtgcctcttctgccttttccatctggactcacagTgctcatggcccctcttgcttatccaaatgatgctcatggctggcgtggcAGAGGGAGACGGACGTCTCAATAAaatcgcgtgacgAGATCGAGACCCGACGC chr2:232068132-Variant-T;Patient-54 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Reference G ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga GCGCATCTAATT CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAgcgcatctaattAGATCGAGACCCGACGC chr2:232243520-Reference-G;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Reference G ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga CTCGTTACCACG CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAActcgttaccacgAGATCGAGACCCGACGC chr2:232243520-Reference-G;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Variant A ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga AATCGCTCGCCT CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAaatcgctcgcctAGATCGAGACCCGACGC chr2:232243520-Variant-A;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative T ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ACACAACCGTCA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAacacaaccgtcaAGATCGAGACCCGACGC chr2:232243520-Alternative-T;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative T ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ACGGCTAATTGT CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAacggctaattgtAGATCGAGACCCGACGC chr2:232243520-Alternative-T;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative T ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga AACGTGACGGAC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAaacgtgacggacAGATCGAGACCCGACGC chr2:232243520-Alternative-T;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Reference G ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ACGTAAGCGATA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAacgtaagcgataAGATCGAGACCCGACGC chr2:232243520-Reference-G;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Variant A ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ACTTGCTGCGTC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAacttgctgcgtcAGATCGAGACCCGACGC chr2:232243520-Variant-A;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Variant A ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga GGACGGTTAGAT CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAggacggttagatAGATCGAGACCCGACGC chr2:232243520-Variant-A;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Variant A ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga CACATCATTGAC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAcacatcattgacAGATCGAGACCCGACGC chr2:232243520-Variant-A;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative T ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga AAGCAACCGTCT CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAaagcaaccgtctAGATCGAGACCCGACGC chr2:232243520-Alternative-T;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Variant A ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga AGCTACAAGACA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggAtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAagctacaagacaAGATCGAGACCCGACGC chr2:232243520-Variant-A;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative C ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga CGTTACAGTACC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAcgttacagtaccAGATCGAGACCCGACGC chr2:232243520-Alternative-C;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative T ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga CATGCGGACTTC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggTtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAcatgcggacttcAGATCGAGACCCGACGC chr2:232243520-Alternative-T;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Reference G ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga GTCGGCGATAGA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAgtcggcgatagaAGATCGAGACCCGACGC chr2:232243520-Reference-G;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative C ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ACGCAGATTATC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAacgcagattatcAGATCGAGACCCGACGC chr2:232243520-Alternative-C;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative C ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ATAGAGCGACTA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAatagagcgactaAGATCGAGACCCGACGC chr2:232243520-Alternative-C;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative C ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga CGCGTCATATGG CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAcgcgtcatatggAGATCGAGACCCGACGC chr2:232243520-Alternative-C;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Reference G ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga GAGTAACAAGTC CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggGtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAgagtaacaagtcAGATCGAGACCCGACGC chr2:232243520-Reference-G;Patient-62 chr2:232243520-GA DeNovo Patient-62 intergenic NA 0.000513 -0.07 1.7 -0.8 B3GNT7 16814 Alternative C ggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctga ATTATTCGGCGA CGACGCGGTCTCTCTCTggccctgaggggcaggaccagggaccctgggtttactgagggaaggtgggCtagaggctggataaagtacctcggccaaaggcaagaagagtggggctgaAGAGGGAGACGGACGTCTCAATAAattattcggcgaAGATCGAGACCCGACGC chr2:232243520-Alternative-C;Patient-62 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Reference T ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CGGATAGACTAT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcggatagactatAGATCGAGACCCGACGC chr2:232294256-Reference-T;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative G ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcatacc ACGGTATGCGGT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAacggtatgcggtAGATCGAGACCCGACGC chr2:232294256-Alternative-G;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Reference T ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CAGATTGCTTCT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcagattgcttctAGATCGAGACCCGACGC chr2:232294256-Reference-T;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative G ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CTGCGGACGTTA CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAActgcggacgttaAGATCGAGACCCGACGC chr2:232294256-Alternative-G;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative G ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CGAGATAATCGA CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcgagataatcgaAGATCGAGACCCGACGC chr2:232294256-Alternative-G;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative G ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcatacc ACTTGCTAGTCT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAacttgctagtctAGATCGAGACCCGACGC chr2:232294256-Alternative-G;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative G ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcatacc GGTTGTGCCGTT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccGctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAggttgtgccgttAGATCGAGACCCGACGC chr2:232294256-Alternative-G;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Reference T ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcatacc ACGTTGCTTAGT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAacgttgcttagtAGATCGAGACCCGACGC chr2:232294256-Reference-T;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative C ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcatacc AGGTTGACGGAC CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAaggttgacggacAGATCGAGACCCGACGC chr2:232294256-Alternative-C;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Variant A ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcatacc CGGCTACCAGAT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcggctaccagatAGATCGAGACCCGACGC chr2:232294256-Variant-A;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Reference T ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcatacc AGCGTTCAAGAT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAagcgttcaagatAGATCGAGACCCGACGC chr2:232294256-Reference-T;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative C ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CTGAGTGGATGG CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAActgagtggatggAGATCGAGACCCGACGC chr2:232294256-Alternative-C;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative C ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcatacc GTTACGCCTGAG CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAgttacgcctgagAGATCGAGACCCGACGC chr2:232294256-Alternative-C;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative C ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcatacc CGGATTAGCTAT CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcggattagctatAGATCGAGACCCGACGC chr2:232294256-Alternative-C;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Variant A ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcatacc ACGATAACAGCA CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAacgataacagcaAGATCGAGACCCGACGC chr2:232294256-Variant-A;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Variant A ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcatacc GCAGCGCATAAG CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAgcagcgcataagAGATCGAGACCCGACGC chr2:232294256-Variant-A;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Reference T ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcatacc AAGCAAGTCGAC CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccTctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAaagcaagtcgacAGATCGAGACCCGACGC chr2:232294256-Reference-T;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Alternative C ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcatacc GAGTGTAAGGCA CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccCctcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAgagtgtaaggcaAGATCGAGACCCGACGC chr2:232294256-Alternative-C;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Variant A ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcatacc ACACGTACCACA CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAacacgtaccacaAGATCGAGACCCGACGC chr2:232294256-Variant-A;Patient-54 chr2:232294256-TA Inherited Patient-54 intergenic 0.000987 0.000513 0.05 3.49 0 NCL 34948 Variant A ggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcatacc CGGTATTCGTGC CGACGCGGTCTCTCTCTggctctaagagctgctttaaaaacgaaaacttcccagggaccccttttccActcttatctgcctaaaataatttcttaactcctacaacactatcataccAGAGGGAGACGGACGTCTCAATAAcggtattcgtgcAGATCGAGACCCGACGC chr2:232294256-Variant-A;Patient-54 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative A cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaactt CTATGCGGAAGG CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAActatgcggaaggAGATCGAGACCCGACGC chr2:232404037-Alternative-A;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative A cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaactt CACACATTAGCG CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAcacacattagcgAGATCGAGACCCGACGC chr2:232404037-Alternative-A;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative A cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GTAAGTCGGATA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgtaagtcggataAGATCGAGACCCGACGC chr2:232404037-Alternative-A;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative A cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GCGGTAGCAACT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgcggtagcaactAGATCGAGACCCGACGC chr2:232404037-Alternative-A;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Variant C cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GTCGAGTATCGC CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgtcgagtatcgcAGATCGAGACCCGACGC chr2:232404037-Variant-C;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Variant C cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaactt ACTTCTCGATCA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAacttctcgatcaAGATCGAGACCCGACGC chr2:232404037-Variant-C;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative A cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaactt CGGAGTGGTCAT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttAagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAcggagtggtcatAGATCGAGACCCGACGC chr2:232404037-Alternative-A;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Variant C cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaactt AACGGTCCAACA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAaacggtccaacaAGATCGAGACCCGACGC chr2:232404037-Variant-C;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Reference T cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GTCTCGTAACTA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgtctcgtaactaAGATCGAGACCCGACGC chr2:232404037-Reference-T;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Variant C cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaactt AGTTCCGACGCA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAagttccgacgcaAGATCGAGACCCGACGC chr2:232404037-Variant-C;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative G cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GGACCGTCTTCT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAggaccgtcttctAGATCGAGACCCGACGC chr2:232404037-Alternative-G;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative G cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaactt CGGAACGTTAGG CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAcggaacgttaggAGATCGAGACCCGACGC chr2:232404037-Alternative-G;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Variant C cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaactt AGTATTGTTCGC CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttCagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAagtattgttcgcAGATCGAGACCCGACGC chr2:232404037-Variant-C;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Reference T cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GGTGGAGTTGGT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAggtggagttggtAGATCGAGACCCGACGC chr2:232404037-Reference-T;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Reference T cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GCAAGCTGCCTA CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgcaagctgcctaAGATCGAGACCCGACGC chr2:232404037-Reference-T;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Reference T cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaactt ACAGCAATCTGT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAacagcaatctgtAGATCGAGACCCGACGC chr2:232404037-Reference-T;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative G cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaactt ACACCGCAGAGT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAacaccgcagagtAGATCGAGACCCGACGC chr2:232404037-Alternative-G;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Reference T cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaactt GTGCTACCTGAG CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttTagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAgtgctacctgagAGATCGAGACCCGACGC chr2:232404037-Reference-T;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative G cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaactt AGCCTTACGACG CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAagccttacgacgAGATCGAGACCCGACGC chr2:232404037-Alternative-G;Patient-55 chr2:232404037-TC DeNovo Patient-55 intergenic NA 0.000513 0.03 3.03 0.13 NMUR1 8854 Alternative G cacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaactt CAGCTTCCGTGT CGACGCGGTCTCTCTCTcacgctccatcactgtacatgggaatgacagcatttctagaggacaagttGagcaacagctaccaatatatagaagtctatccttttggctctgaaacttAGAGGGAGACGGACGTCTCAATAAcagcttccgtgtAGATCGAGACCCGACGC chr2:232404037-Alternative-G;Patient-55 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Variant C gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactccca GTCAGTAAGCGG CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAgtcagtaagcggAGATCGAGACCCGACGC chr2:232404329-Variant-C;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Variant C gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactccca AGCCTGAACGAT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAagcctgaacgatAGATCGAGACCCGACGC chr2:232404329-Variant-C;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Variant C gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactccca AGGAGTAGTCAA CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAaggagtagtcaaAGATCGAGACCCGACGC chr2:232404329-Variant-C;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative G gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactccca ATTGATCCGACG CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAattgatccgacgAGATCGAGACCCGACGC chr2:232404329-Alternative-G;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative G gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactccca GATAAGTAGTCG CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAgataagtagtcgAGATCGAGACCCGACGC chr2:232404329-Alternative-G;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative T gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactccca CGTCCGTTACAC CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAcgtccgttacacAGATCGAGACCCGACGC chr2:232404329-Alternative-T;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Variant C gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactccca AACGCGCATGGT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAaacgcgcatggtAGATCGAGACCCGACGC chr2:232404329-Variant-C;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Variant C gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactccca CAGCATTGTTCT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaCccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAcagcattgttctAGATCGAGACCCGACGC chr2:232404329-Variant-C;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative G gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactccca ACGAAGCTTGTT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAacgaagcttgttAGATCGAGACCCGACGC chr2:232404329-Alternative-G;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative G gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactccca CTATGGTCAGTT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAActatggtcagttAGATCGAGACCCGACGC chr2:232404329-Alternative-G;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative G gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactccca ATCTTATCGCCA CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaGccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAatcttatcgccaAGATCGAGACCCGACGC chr2:232404329-Alternative-G;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative T gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactccca AGTAGATGGACG CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAagtagatggacgAGATCGAGACCCGACGC chr2:232404329-Alternative-T;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative T gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactccca CGAGCGTAATTA CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAcgagcgtaattaAGATCGAGACCCGACGC chr2:232404329-Alternative-T;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative T gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactccca GCGACAGCTGTT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAgcgacagctgttAGATCGAGACCCGACGC chr2:232404329-Alternative-T;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Alternative T gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactccca ACGATACTCGGC CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaTccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAacgatactcggcAGATCGAGACCCGACGC chr2:232404329-Alternative-T;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Reference A gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactccca ACACGGTTAGAA CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAacacggttagaaAGATCGAGACCCGACGC chr2:232404329-Reference-A;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Reference A gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactccca AGATCAGGTAAC CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAagatcaggtaacAGATCGAGACCCGACGC chr2:232404329-Reference-A;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Reference A gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactccca AAGGTACATCGA CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAaaggtacatcgaAGATCGAGACCCGACGC chr2:232404329-Reference-A;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Reference A gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactccca ATTCGTGTACGT CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAattcgtgtacgtAGATCGAGACCCGACGC chr2:232404329-Reference-A;Patient-49 chr2:232404329-AC Inherited Patient-49 intergenic 0.00051 0.001025641 0.02 2.98 0.24 NMUR1 9146 Reference A gtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactccca CGTGACAAGACG CGACGCGGTCTCTCTCTgtgcctgtagtcccagctgctgaggaggctgagacaggaggatcacttgaAccagatcatgccactgcactccagcctgggtgacacagcaagactcccaAGAGGGAGACGGACGTCTCAATAAcgtgacaagacgAGATCGAGACCCGACGC chr2:232404329-Reference-A;Patient-49 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Variant T atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg CGGAGGAAGTGT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAcggaggaagtgtAGATCGAGACCCGACGC chr2:232759743-Variant-T;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative G atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg AACTTGACAAGG CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAaacttgacaaggAGATCGAGACCCGACGC chr2:232759743-Alternative-G;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Variant T atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ATCGATTCCTGT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAatcgattcctgtAGATCGAGACCCGACGC chr2:232759743-Variant-T;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Variant T atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ATCGTCCGCGTT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAatcgtccgcgttAGATCGAGACCCGACGC chr2:232759743-Variant-T;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative G atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg AATATAGGTCGG CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAaatataggtcggAGATCGAGACCCGACGC chr2:232759743-Alternative-G;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Variant T atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ATCATCCAACGA CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAatcatccaacgaAGATCGAGACCCGACGC chr2:232759743-Variant-T;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative G atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg CAAGTCGCCACA CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAcaagtcgccacaAGATCGAGACCCGACGC chr2:232759743-Alternative-G;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative G atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg CGACATACGGAT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAcgacatacggatAGATCGAGACCCGACGC chr2:232759743-Alternative-G;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative A atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GGCCGGTGAATT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAggccggtgaattAGATCGAGACCCGACGC chr2:232759743-Alternative-A;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative A atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GATCGCGACGAA CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAgatcgcgacgaaAGATCGAGACCCGACGC chr2:232759743-Alternative-A;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative A atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg AAGATTACGGAC CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAaagattacggacAGATCGAGACCCGACGC chr2:232759743-Alternative-A;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Variant T atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GCGGCTGTTAAC CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccTagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAgcggctgttaacAGATCGAGACCCGACGC chr2:232759743-Variant-T;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative G atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ACTCGCGAACAG CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccGagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAactcgcgaacagAGATCGAGACCCGACGC chr2:232759743-Alternative-G;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative A atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GTATTGTCGGAC CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAgtattgtcggacAGATCGAGACCCGACGC chr2:232759743-Alternative-A;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Alternative A atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ACGGTGATCTTA CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccAagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAacggtgatcttaAGATCGAGACCCGACGC chr2:232759743-Alternative-A;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Reference C atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg CGGAGAACTCGT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAcggagaactcgtAGATCGAGACCCGACGC chr2:232759743-Reference-C;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Reference C atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GATAGAGCGTCG CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAgatagagcgtcgAGATCGAGACCCGACGC chr2:232759743-Reference-C;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Reference C atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg CGCGCGGTTAAT CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAcgcgcggttaatAGATCGAGACCCGACGC chr2:232759743-Reference-C;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Reference C atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg ACTGCGACTTCG CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAactgcgacttcgAGATCGAGACCCGACGC chr2:232759743-Reference-C;Patient-69 chr2:232759743-CT DeNovo Patient-69 intergenic 0.000446 0.001025641 -0.44 0.14 -1.19 DIS3L2 66549 Reference C atacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtg GTACTAACGTAC CGACGCGGTCTCTCTCTatacattcaaagaagaaggggaaagatatggtttgaatctgtgtccctccCagatctcctgtggaattataatcctcagtgttggaggtggggcctggtgAGAGGGAGACGGACGTCTCAATAAgtactaacgtacAGATCGAGACCCGACGC chr2:232759743-Reference-C;Patient-69 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Variant C tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa AGGTTACTGAAC CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaggttactgaacAGATCGAGACCCGACGC chr2:233380609-Variant-C;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative A tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa ATCCGAACGAAT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAatccgaacgaatAGATCGAGACCCGACGC chr2:233380609-Alternative-A;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative A tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GTTAACGCTACA CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgttaacgctacaAGATCGAGACCCGACGC chr2:233380609-Alternative-A;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Reference G tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa AATGCGCCACAG CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaatgcgccacagAGATCGAGACCCGACGC chr2:233380609-Reference-G;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative A tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa CATTAAGCGGTT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAcattaagcggttAGATCGAGACCCGACGC chr2:233380609-Alternative-A;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Variant C tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa CTGAGAATGCGC CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAActgagaatgcgcAGATCGAGACCCGACGC chr2:233380609-Variant-C;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative T tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GTATAGGCGCGT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgtataggcgcgtAGATCGAGACCCGACGC chr2:233380609-Alternative-T;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Reference G tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa CACTTATGGCTT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAcacttatggcttAGATCGAGACCCGACGC chr2:233380609-Reference-G;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative A tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa AAGACCGGCCTT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaagaccggccttAGATCGAGACCCGACGC chr2:233380609-Alternative-A;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Reference G tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GTTATTCTGTGC CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgttattctgtgcAGATCGAGACCCGACGC chr2:233380609-Reference-G;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Variant C tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GATCCAACGGAG CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgatccaacggagAGATCGAGACCCGACGC chr2:233380609-Variant-C;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative T tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GCGGTCTGAGAT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgcggtctgagatAGATCGAGACCCGACGC chr2:233380609-Alternative-T;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative T tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa ATTCCGACGTAT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAattccgacgtatAGATCGAGACCCGACGC chr2:233380609-Alternative-T;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Variant C tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa AACGTCGTACAT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaacgtcgtacatAGATCGAGACCCGACGC chr2:233380609-Variant-C;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Variant C tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa ATTACGTGGTAC CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgCtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAattacgtggtacAGATCGAGACCCGACGC chr2:233380609-Variant-C;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative T tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa ATCGGCGCAGTT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAatcggcgcagttAGATCGAGACCCGACGC chr2:233380609-Alternative-T;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative A tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GAGCTCGAATCG CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgAtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgagctcgaatcgAGATCGAGACCCGACGC chr2:233380609-Alternative-A;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Alternative T tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa AATGTGTGGAGT CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgTtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaatgtgtggagtAGATCGAGACCCGACGC chr2:233380609-Alternative-T;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Reference G tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa ACCGGCTATCCA CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAaccggctatccaAGATCGAGACCCGACGC chr2:233380609-Reference-G;Patient-10 chr2:233380609-GC DeNovo Patient-10 intergenic NA 0.000513 -0.15 0.99 -0.2 CHRND 10260 Reference G tgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaa GCGCAATTACTA CGACGCGGTCTCTCTCTtgtctctgtgtcttcttgtaaggacaccagcctattggatgaagggcccgGtgtgacctcattattaactaactacaactgcagcaaccttatttctgaaAGAGGGAGACGGACGTCTCAATAAgcgcaattactaAGATCGAGACCCGACGC chr2:233380609-Reference-G;Patient-10 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative T tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GACGTACGACAG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgacgtacgacagAGATCGAGACCCGACGC chr2:233460016-Alternative-T;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative T tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GCGGTATTCACG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgcggtattcacgAGATCGAGACCCGACGC chr2:233460016-Alternative-T;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative T tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa ATAGTGGCAAGT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAatagtggcaagtAGATCGAGACCCGACGC chr2:233460016-Alternative-T;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative T tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa ACACCGCAAGCA CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAacaccgcaagcaAGATCGAGACCCGACGC chr2:233460016-Alternative-T;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Reference A tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GATCGCGGTTCT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgatcgcggttctAGATCGAGACCCGACGC chr2:233460016-Reference-A;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Reference A tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa AGATGCTAACCT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAagatgctaacctAGATCGAGACCCGACGC chr2:233460016-Reference-A;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Reference A tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GAGAGCGTTCAT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgagagcgttcatAGATCGAGACCCGACGC chr2:233460016-Reference-A;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Reference A tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GTAATCCGTTGT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgtaatccgttgtAGATCGAGACCCGACGC chr2:233460016-Reference-A;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative C tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CGGACAACATAA CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAcggacaacataaAGATCGAGACCCGACGC chr2:233460016-Alternative-C;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative C tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GGTTAGATCGAT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAggttagatcgatAGATCGAGACCCGACGC chr2:233460016-Alternative-C;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Reference A tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CATTATGTCGAG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaAgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAcattatgtcgagAGATCGAGACCCGACGC chr2:233460016-Reference-A;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Variant G tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CTCGCGCGATAT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAActcgcgcgatatAGATCGAGACCCGACGC chr2:233460016-Variant-G;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative C tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CGGTCGTAGGAT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAcggtcgtaggatAGATCGAGACCCGACGC chr2:233460016-Alternative-C;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Variant G tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CATTGGTTACCT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAcattggttacctAGATCGAGACCCGACGC chr2:233460016-Variant-G;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Variant G tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa ATCCGACTGACG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAatccgactgacgAGATCGAGACCCGACGC chr2:233460016-Variant-G;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Variant G tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa AACGAATCGGAT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAaacgaatcggatAGATCGAGACCCGACGC chr2:233460016-Variant-G;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative T tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa AGTCCGAAGATA CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaTgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAagtccgaagataAGATCGAGACCCGACGC chr2:233460016-Alternative-T;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative C tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa GACATCTACGAG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAgacatctacgagAGATCGAGACCCGACGC chr2:233460016-Alternative-C;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Variant G tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa AACCACAGAGGT CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaGgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAaaccacagaggtAGATCGAGACCCGACGC chr2:233460016-Variant-G;Patient-61 chr2:233460016-AG Inherited Patient-61 intergenic NA 0.000513 -0.09 1.51 0 CHRNG 55578 Alternative C tctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaa CGCGTCATACAG CGACGCGGTCTCTCTCTtctgtcccgcccccccgcccaaaaaaagtgctaaaaacaaaaacaagcaaCgaaaccacattgatgggacatgtcaaagggacgcagaagccacctgaaaAGAGGGAGACGGACGTCTCAATAAcgcgtcatacagAGATCGAGACCCGACGC chr2:233460016-Alternative-C;Patient-61 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative A acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttccc CTAATCGACGAT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAActaatcgacgatAGATCGAGACCCGACGC chr2:234898769-Alternative-A;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative A acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AACTCAACGTAC CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAaactcaacgtacAGATCGAGACCCGACGC chr2:234898769-Alternative-A;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative G acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttccc CGTCCACGTAGA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAcgtccacgtagaAGATCGAGACCCGACGC chr2:234898769-Alternative-G;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative A acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttccc CAAGCTAGGAGT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAcaagctaggagtAGATCGAGACCCGACGC chr2:234898769-Alternative-A;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative G acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttccc GTGTCGGAGCAA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAgtgtcggagcaaAGATCGAGACCCGACGC chr2:234898769-Alternative-G;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative A acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AACAGCGATCAT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAaacagcgatcatAGATCGAGACCCGACGC chr2:234898769-Alternative-A;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative G acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttccc GTGCTCGTAGCA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAgtgctcgtagcaAGATCGAGACCCGACGC chr2:234898769-Alternative-G;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative G acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttccc ACATCATGCTGA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAacatcatgctgaAGATCGAGACCCGACGC chr2:234898769-Alternative-G;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative A acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AATGAGCGACCT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagAgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAaatgagcgacctAGATCGAGACCCGACGC chr2:234898769-Alternative-A;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Variant T acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttccc CGCTCATTAAGA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAcgctcattaagaAGATCGAGACCCGACGC chr2:234898769-Variant-T;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Alternative G acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttccc GTAATGCGCTTA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagGgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAgtaatgcgcttaAGATCGAGACCCGACGC chr2:234898769-Alternative-G;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Variant T acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttccc ATCGCTTCAACC CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAatcgcttcaaccAGATCGAGACCCGACGC chr2:234898769-Variant-T;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Variant T acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AGAATCGGCAAT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAagaatcggcaatAGATCGAGACCCGACGC chr2:234898769-Variant-T;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Reference C acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttccc GGTACCTATCGC CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAggtacctatcgcAGATCGAGACCCGACGC chr2:234898769-Reference-C;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Variant T acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttccc ACTTGTACGCAT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAacttgtacgcatAGATCGAGACCCGACGC chr2:234898769-Variant-T;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Variant T acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttccc ATATGCGGAATC CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagTgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAatatgcggaatcAGATCGAGACCCGACGC chr2:234898769-Variant-T;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Reference C acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AACTCCAATCAG CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAaactccaatcagAGATCGAGACCCGACGC chr2:234898769-Reference-C;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Reference C acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttccc AATGCTTCTGAG CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAaatgcttctgagAGATCGAGACCCGACGC chr2:234898769-Reference-C;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Reference C acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttccc CATGCTTGACTT CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAcatgcttgacttAGATCGAGACCCGACGC chr2:234898769-Reference-C;Patient-66 chr2:234898769-CT DeNovo Patient-66 intronic TRPM8 9.6e-05 4.95e-05 -0.5 0.09 -3.94 TRPM8 72725 Reference C acagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttccc GTGTCGTGCACA CGACGCGGTCTCTCTCTacagtctaagggaggttattgaattggggtgaaaagaatagaaagaagagCgcagataattgtaatagtaacaatagctaatatttattgaagctttcccAGAGGGAGACGGACGTCTCAATAAgtgtcgtgcacaAGATCGAGACCCGACGC chr2:234898769-Reference-C;Patient-66 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative A aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GCGTAGCTTGCT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAgcgtagcttgctAGATCGAGACCCGACGC chr2:237493382-Alternative-A;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Variant C aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GGAAGTATAAGG CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAggaagtataaggAGATCGAGACCCGACGC chr2:237493382-Variant-C;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Variant C aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct ACTTACTAACGC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAacttactaacgcAGATCGAGACCCGACGC chr2:237493382-Variant-C;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Variant C aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GTATTGTCATGG CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAgtattgtcatggAGATCGAGACCCGACGC chr2:237493382-Variant-C;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Variant C aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GTCGGCTGAATC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAgtcggctgaatcAGATCGAGACCCGACGC chr2:237493382-Variant-C;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative G aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CGTGATAGTGGT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAcgtgatagtggtAGATCGAGACCCGACGC chr2:237493382-Alternative-G;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative G aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CGTATACCTGTT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAcgtatacctgttAGATCGAGACCCGACGC chr2:237493382-Alternative-G;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative A aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CTGGTGACTCCT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAActggtgactcctAGATCGAGACCCGACGC chr2:237493382-Alternative-A;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Reference T aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CGATCCTTCGCA CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAcgatccttcgcaAGATCGAGACCCGACGC chr2:237493382-Reference-T;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Reference T aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GGTAGTTCGATT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAggtagttcgattAGATCGAGACCCGACGC chr2:237493382-Reference-T;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Reference T aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GCATATTGAACC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAgcatattgaaccAGATCGAGACCCGACGC chr2:237493382-Reference-T;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative G aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CGTATCTCTCTT CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAcgtatctctcttAGATCGAGACCCGACGC chr2:237493382-Alternative-G;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative G aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GGCGTGATCTAC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAggcgtgatctacAGATCGAGACCCGACGC chr2:237493382-Alternative-G;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative G aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct ACGAGTGTTATC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctGgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAacgagtgttatcAGATCGAGACCCGACGC chr2:237493382-Alternative-G;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Reference T aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct ACTACGCAACCG CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAactacgcaaccgAGATCGAGACCCGACGC chr2:237493382-Reference-T;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Reference T aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct AGTCGCTCGTGA CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctTgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAagtcgctcgtgaAGATCGAGACCCGACGC chr2:237493382-Reference-T;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative A aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GTTACAGTAAGG CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAgttacagtaaggAGATCGAGACCCGACGC chr2:237493382-Alternative-A;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative A aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct GGAAGACGTTCG CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAggaagacgttcgAGATCGAGACCCGACGC chr2:237493382-Alternative-A;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Alternative A aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct AATCGGCGCTGA CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctAgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAaatcggcgctgaAGATCGAGACCCGACGC chr2:237493382-Alternative-A;Patient-59 chr2:237493382-TC Inherited Patient-59 intergenic 0.000319 0.00205 -0.3 0.36 -4.02 ACKR3 15001 Variant C aggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgct CGGAACGACATC CGACGCGGTCTCTCTCTaggcacagggtgggacctcagagttgggagaaaagcagctttggctttctCgatggcgcttcctggagcctcctcccatcccaggctctaatactctgctAGAGGGAGACGGACGTCTCAATAAcggaacgacatcAGATCGAGACCCGACGC chr2:237493382-Variant-C;Patient-59 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative C agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GGTTCCGTCGAA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAggttccgtcgaaAGATCGAGACCCGACGC chr2:237521432-Alternative-C;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative C agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc ATAGTCGATAGG CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAatagtcgataggAGATCGAGACCCGACGC chr2:237521432-Alternative-C;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative C agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CTAGTTAAGGCA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAActagttaaggcaAGATCGAGACCCGACGC chr2:237521432-Alternative-C;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative C agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CAACGGCTGTCA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcaacggctgtcaAGATCGAGACCCGACGC chr2:237521432-Alternative-C;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative C agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc AAGTATCCGGAG CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggCttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAaagtatccggagAGATCGAGACCCGACGC chr2:237521432-Alternative-C;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative A agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GTTCGATGACAT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAgttcgatgacatAGATCGAGACCCGACGC chr2:237521432-Alternative-A;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative A agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc ATATAATCGCGG CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAatataatcgcggAGATCGAGACCCGACGC chr2:237521432-Alternative-A;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative A agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CGGAACTATAAG CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcggaactataagAGATCGAGACCCGACGC chr2:237521432-Alternative-A;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative A agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GTTAATCGTGCT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAgttaatcgtgctAGATCGAGACCCGACGC chr2:237521432-Alternative-A;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Alternative A agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CGTACGCAGTGT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggAttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcgtacgcagtgtAGATCGAGACCCGACGC chr2:237521432-Alternative-A;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Variant T agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc ATCCGGTTCGCT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAatccggttcgctAGATCGAGACCCGACGC chr2:237521432-Variant-T;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Variant T agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GTCTCGATAGCG CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAgtctcgatagcgAGATCGAGACCCGACGC chr2:237521432-Variant-T;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Variant T agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CATCGCGACTAA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcatcgcgactaaAGATCGAGACCCGACGC chr2:237521432-Variant-T;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Variant T agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CGTGTTAGGCCA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcgtgttaggccaAGATCGAGACCCGACGC chr2:237521432-Variant-T;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Variant T agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GATGACGGCGAT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggTttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAgatgacggcgatAGATCGAGACCCGACGC chr2:237521432-Variant-T;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Reference G agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CGTCTGTGCGAT CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcgtctgtgcgatAGATCGAGACCCGACGC chr2:237521432-Reference-G;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Reference G agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GGCGCAACGTAA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAggcgcaacgtaaAGATCGAGACCCGACGC chr2:237521432-Reference-G;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Reference G agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc ATTCTCGATCGC CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAattctcgatcgcAGATCGAGACCCGACGC chr2:237521432-Reference-G;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Reference G agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc CGTTCACCATTA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAcgttcaccattaAGATCGAGACCCGACGC chr2:237521432-Reference-G;Patient-30 chr2:237521432-GT Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACKR3 43051 Reference G agtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagc GACGACGCTAGA CGACGCGGTCTCTCTCTagtaccgaccccaacctgacttacacagggagtcccgtgaaacctcggggGttactcgcccgggatttcctacctgaccttcaggcagggcttattcagcAGAGGGAGACGGACGTCTCAATAAgacgacgctagaAGATCGAGACCCGACGC chr2:237521432-Reference-G;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative C atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcaga ACAAGCGCCGTT CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAacaagcgccgttAGATCGAGACCCGACGC chr2:237912056-Alternative-C;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative C atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcaga CGGCTGAGATGA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcggctgagatgaAGATCGAGACCCGACGC chr2:237912056-Alternative-C;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative C atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcaga CAACGTAGGCGA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcaacgtaggcgaAGATCGAGACCCGACGC chr2:237912056-Alternative-C;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative C atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcaga CGGTATATGACG CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcggtatatgacgAGATCGAGACCCGACGC chr2:237912056-Alternative-C;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative C atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcaga CACGTCGAAGTC CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcCccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcacgtcgaagtcAGATCGAGACCCGACGC chr2:237912056-Alternative-C;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Variant A atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcaga GCGATATCGCGT CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAgcgatatcgcgtAGATCGAGACCCGACGC chr2:237912056-Variant-A;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Variant A atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcaga CAGAGCTGATGG CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcagagctgatggAGATCGAGACCCGACGC chr2:237912056-Variant-A;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Variant A atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcaga ATCGCAATGTCA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAatcgcaatgtcaAGATCGAGACCCGACGC chr2:237912056-Variant-A;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Variant A atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcaga ACGTATCGCGAC CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAacgtatcgcgacAGATCGAGACCCGACGC chr2:237912056-Variant-A;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Variant A atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcaga AACGTTACGCGC CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcAccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAaacgttacgcgcAGATCGAGACCCGACGC chr2:237912056-Variant-A;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative T atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcaga ACTCGCCAACCA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAactcgccaaccaAGATCGAGACCCGACGC chr2:237912056-Alternative-T;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative T atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcaga GCGTTAACCTGG CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAgcgttaacctggAGATCGAGACCCGACGC chr2:237912056-Alternative-T;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative T atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcaga CATTCGGTGACG CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcattcggtgacgAGATCGAGACCCGACGC chr2:237912056-Alternative-T;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative T atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcaga AGCTTAGATTCG CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAagcttagattcgAGATCGAGACCCGACGC chr2:237912056-Alternative-T;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Alternative T atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcaga AGCTAGCCAATA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcTccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAagctagccaataAGATCGAGACCCGACGC chr2:237912056-Alternative-T;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Reference G atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcaga CTGTCGTGGTTC CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAActgtcgtggttcAGATCGAGACCCGACGC chr2:237912056-Reference-G;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Reference G atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcaga CTACGAGATAAC CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAActacgagataacAGATCGAGACCCGACGC chr2:237912056-Reference-G;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Reference G atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcaga CGAACTTAGCGT CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAcgaacttagcgtAGATCGAGACCCGACGC chr2:237912056-Reference-G;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Reference G atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcaga GTCGCCTAACCA CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAAgtcgcctaaccaAGATCGAGACCCGACGC chr2:237912056-Reference-G;Patient-30 chr2:237912056-GA Inherited Patient-30 intergenic 0.000701 0.000513 NA NA NA COPS8 82027 Reference G atgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcaga CTTACGCATTCT CGACGCGGTCTCTCTCTatgcaagggtgactcattttaaacaaagcagttaatttgtctaacacagcGccggacaactgatcccactgagaacactccagcatgccattatttcagaAGAGGGAGACGGACGTCTCAATAActtacgcattctAGATCGAGACCCGACGC chr2:237912056-Reference-G;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative A agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca AGCTTGCGACAC CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAagcttgcgacacAGATCGAGACCCGACGC chr2:238283203-Alternative-A;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative A agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CGTCCGGACTAT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAcgtccggactatAGATCGAGACCCGACGC chr2:238283203-Alternative-A;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative T agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CTAGTATCAGGT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAActagtatcaggtAGATCGAGACCCGACGC chr2:238283203-Alternative-T;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative T agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CTTAAGACGCTA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAActtaagacgctaAGATCGAGACCCGACGC chr2:238283203-Alternative-T;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative T agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca GATTACGACTGA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAgattacgactgaAGATCGAGACCCGACGC chr2:238283203-Alternative-T;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative T agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CGGAACAAGATT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAcggaacaagattAGATCGAGACCCGACGC chr2:238283203-Alternative-T;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Variant C agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca ACTTCGACGCGT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAacttcgacgcgtAGATCGAGACCCGACGC chr2:238283203-Variant-C;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Variant C agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca GGTTGCCTCTGT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAggttgcctctgtAGATCGAGACCCGACGC chr2:238283203-Variant-C;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Variant C agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca GTGTTAACGCAT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAgtgttaacgcatAGATCGAGACCCGACGC chr2:238283203-Variant-C;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Variant C agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca AACGTGGACATA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAaacgtggacataAGATCGAGACCCGACGC chr2:238283203-Variant-C;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Variant C agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CGTACTATGCTT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatCgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAcgtactatgcttAGATCGAGACCCGACGC chr2:238283203-Variant-C;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative A agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CTAACTACGGAA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAActaactacggaaAGATCGAGACCCGACGC chr2:238283203-Alternative-A;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative A agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca GGTTCATCAACA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAggttcatcaacaAGATCGAGACCCGACGC chr2:238283203-Alternative-A;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative A agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca ACGAACCTAAGT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatAgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAacgaacctaagtAGATCGAGACCCGACGC chr2:238283203-Alternative-A;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Alternative T agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca AGGTTCAGGCCA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatTgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAaggttcaggccaAGATCGAGACCCGACGC chr2:238283203-Alternative-T;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Reference G agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CTGAGGTTCCGA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAActgaggttccgaAGATCGAGACCCGACGC chr2:238283203-Reference-G;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Reference G agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CTCGCTCGTAAG CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAActcgctcgtaagAGATCGAGACCCGACGC chr2:238283203-Reference-G;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Reference G agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca AGTCGAGCGCTA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAagtcgagcgctaAGATCGAGACCCGACGC chr2:238283203-Reference-G;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Reference G agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca CAGCGGAGTTCT CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAcagcggagttctAGATCGAGACCCGACGC chr2:238283203-Reference-G;Patient-30 chr2:238283203-GC Inherited Patient-30 synonymous COL6A3 8.8e-05 0.000184 NA NA NA COL6A3 39646 Reference G agctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggca GACAACGGATTA CGACGCGGTCTCTCTCTagctggcgaaaggtgggaatggccacggcaaagtccgggatgaaggagatGgtctgcatctctgtgatgtcagcgttcccgatgccaatgccaatgggcaAGAGGGAGACGGACGTCTCAATAAgacaacggattaAGATCGAGACCCGACGC chr2:238283203-Reference-G;Patient-30 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative T atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GTTGAGAGCACG CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgttgagagcacgAGATCGAGACCCGACGC chr2:238325954-Alternative-T;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative T atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag CGCGGTTATCAA CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAcgcggttatcaaAGATCGAGACCCGACGC chr2:238325954-Alternative-T;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Reference G atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag CATTCGCTAGCG CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAcattcgctagcgAGATCGAGACCCGACGC chr2:238325954-Reference-G;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Reference G atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag CGGCTAATGCCT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAcggctaatgcctAGATCGAGACCCGACGC chr2:238325954-Reference-G;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative T atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GTAGCGGATCGT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgtagcggatcgtAGATCGAGACCCGACGC chr2:238325954-Alternative-T;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Reference G atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GGATAGCGTGGT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAggatagcgtggtAGATCGAGACCCGACGC chr2:238325954-Reference-G;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative T atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag ATAGGCGCGACT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAataggcgcgactAGATCGAGACCCGACGC chr2:238325954-Alternative-T;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Reference G atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GAGATACTCCGC CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgagatactccgcAGATCGAGACCCGACGC chr2:238325954-Reference-G;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative T atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GTAACGCGATAT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactTttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgtaacgcgatatAGATCGAGACCCGACGC chr2:238325954-Alternative-T;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Variant A atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag ACTTCGTGCGTC CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAacttcgtgcgtcAGATCGAGACCCGACGC chr2:238325954-Variant-A;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Reference G atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GATGCTCTAAGT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactGttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgatgctctaagtAGATCGAGACCCGACGC chr2:238325954-Reference-G;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative C atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag ACTACGCGACCT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAactacgcgacctAGATCGAGACCCGACGC chr2:238325954-Alternative-C;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative C atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag ACTATGTGGTCA CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAactatgtggtcaAGATCGAGACCCGACGC chr2:238325954-Alternative-C;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Variant A atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GACCGGCTGTTA CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgaccggctgttaAGATCGAGACCCGACGC chr2:238325954-Variant-A;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative C atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GTAACGGAAGCG CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgtaacggaagcgAGATCGAGACCCGACGC chr2:238325954-Alternative-C;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Variant A atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GACTGCATAGAT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgactgcatagatAGATCGAGACCCGACGC chr2:238325954-Variant-A;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Variant A atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GAAGATGAGTCT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgaagatgagtctAGATCGAGACCCGACGC chr2:238325954-Variant-A;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative C atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GTCGGACAGATT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAgtcggacagattAGATCGAGACCCGACGC chr2:238325954-Alternative-C;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Alternative C atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag GGTAGCAAGTAT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactCttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAAggtagcaagtatAGATCGAGACCCGACGC chr2:238325954-Alternative-C;Patient-61 chr2:238325954-GA Inherited Patient-61 intergenic 3.2e-05 0.000512821 0.01 2.85 0.47 COL6A3 3103 Variant A atgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgag CTCGTCTAGCGT CGACGCGGTCTCTCTCTatgagagtcaaatgttagtggttcacacccacgccctttcctggaggactAttcgtggatgctgggatctgtctcttctggacacattggggtgtgtgagAGAGGGAGACGGACGTCTCAATAActcgtctagcgtAGATCGAGACCCGACGC chr2:238325954-Variant-A;Patient-61 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Reference C cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt ACAGCGTGGCTA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAacagcgtggctaAGATCGAGACCCGACGC chr2:238336651-Reference-C;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative A cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GACCGGTGATGA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAgaccggtgatgaAGATCGAGACCCGACGC chr2:238336651-Alternative-A;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative A cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt ACTCCGGCTAGT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAactccggctagtAGATCGAGACCCGACGC chr2:238336651-Alternative-A;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Reference C cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GGCTACCTTCGT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAggctaccttcgtAGATCGAGACCCGACGC chr2:238336651-Reference-C;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Reference C cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt CGTTCCAACCTT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAcgttccaaccttAGATCGAGACCCGACGC chr2:238336651-Reference-C;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Reference C cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt AGGCTGACGCAA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAaggctgacgcaaAGATCGAGACCCGACGC chr2:238336651-Reference-C;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative A cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt AACTTGCATCGA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAaacttgcatcgaAGATCGAGACCCGACGC chr2:238336651-Alternative-A;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Reference C cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt CGCGAACGATAC CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaCcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAcgcgaacgatacAGATCGAGACCCGACGC chr2:238336651-Reference-C;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative A cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GGAGTAGTGTTA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAggagtagtgttaAGATCGAGACCCGACGC chr2:238336651-Alternative-A;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Variant T cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt ATACGGAATCGA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAatacggaatcgaAGATCGAGACCCGACGC chr2:238336651-Variant-T;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative G cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt CGTTAATCGGAA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAcgttaatcggaaAGATCGAGACCCGACGC chr2:238336651-Alternative-G;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Variant T cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt AATCTGGTTACG CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAaatctggttacgAGATCGAGACCCGACGC chr2:238336651-Variant-T;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative G cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GCGTTATGTGCG CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAgcgttatgtgcgAGATCGAGACCCGACGC chr2:238336651-Alternative-G;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative G cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt AACTACGGACGT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAaactacggacgtAGATCGAGACCCGACGC chr2:238336651-Alternative-G;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Variant T cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GTTAGGCATTGA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAgttaggcattgaAGATCGAGACCCGACGC chr2:238336651-Variant-T;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative G cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GGCCGACTTCAT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAggccgacttcatAGATCGAGACCCGACGC chr2:238336651-Alternative-G;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Variant T cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GGACCTATGTGC CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAggacctatgtgcAGATCGAGACCCGACGC chr2:238336651-Variant-T;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Variant T cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt GCGACCGTAGTT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaTcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAgcgaccgtagttAGATCGAGACCCGACGC chr2:238336651-Variant-T;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative A cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt ACGGTCTAAGTT CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaAcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAAacggtctaagttAGATCGAGACCCGACGC chr2:238336651-Alternative-A;Patient-54 chr2:238336651-CT DeNovo Patient-54 intergenic NA 0.000513 0.13 4.75 0.73 COL6A3 13800 Alternative G cttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagt CTAAGCACCTAA CGACGCGGTCTCTCTCTcttccagatgtctatgaggttgtgccaagcagcccctctcacatgccttaGcactgggttccagtggtgtctctactctggctgtgaaaggccatgtagtAGAGGGAGACGGACGTCTCAATAActaagcacctaaAGATCGAGACCCGACGC chr2:238336651-Alternative-G;Patient-54 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Reference C gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CACGACACTCTT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcacgacactcttAGATCGAGACCCGACGC chr2:238347842-Reference-C;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Variant A gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GTCATACGTGCG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgtcatacgtgcgAGATCGAGACCCGACGC chr2:238347842-Variant-A;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Reference C gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GCCGCGTTAAGA CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgccgcgttaagaAGATCGAGACCCGACGC chr2:238347842-Reference-C;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Reference C gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc ACACTTCGCCGT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAacacttcgccgtAGATCGAGACCCGACGC chr2:238347842-Reference-C;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Reference C gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CGAAGCAATCGC CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcgaagcaatcgcAGATCGAGACCCGACGC chr2:238347842-Reference-C;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Reference C gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc AACGACGACGCA CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacCctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAaacgacgacgcaAGATCGAGACCCGACGC chr2:238347842-Reference-C;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative G gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GTAGTGACGACG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgtagtgacgacgAGATCGAGACCCGACGC chr2:238347842-Alternative-G;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative G gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CGAACTGCGCTT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcgaactgcgcttAGATCGAGACCCGACGC chr2:238347842-Alternative-G;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Variant A gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CGCAGTTAACAG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcgcagttaacagAGATCGAGACCCGACGC chr2:238347842-Variant-A;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Variant A gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GGAATTACACGT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAggaattacacgtAGATCGAGACCCGACGC chr2:238347842-Variant-A;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative T gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GTCGAACGAATA CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgtcgaacgaataAGATCGAGACCCGACGC chr2:238347842-Alternative-T;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative G gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CGCATGCTGTAA CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcgcatgctgtaaAGATCGAGACCCGACGC chr2:238347842-Alternative-G;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative G gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc AGTATTCGAGCT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAagtattcgagctAGATCGAGACCCGACGC chr2:238347842-Alternative-G;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative T gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GTAAGAGTTGCA CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgtaagagttgcaAGATCGAGACCCGACGC chr2:238347842-Alternative-T;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative G gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc AGGACCGTTAGG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacGctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAaggaccgttaggAGATCGAGACCCGACGC chr2:238347842-Alternative-G;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative T gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CGAAGACCGGTT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAcgaagaccggttAGATCGAGACCCGACGC chr2:238347842-Alternative-T;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative T gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc GCGTTCGTATGG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAgcgttcgtatggAGATCGAGACCCGACGC chr2:238347842-Alternative-T;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Alternative T gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc CTTGGTCGTATT CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacTctgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAActtggtcgtattAGATCGAGACCCGACGC chr2:238347842-Alternative-T;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Variant A gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc ACGGCTACGAAC CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAacggctacgaacAGATCGAGACCCGACGC chr2:238347842-Variant-A;Patient-69 chr2:238347842-CA DeNovo Patient-69 intergenic 0.00074 0.001025641 -0.4 0.18 -0.4 COL6A3 24991 Variant A gatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagc ATCGCTTATTCG CGACGCGGTCTCTCTCTgatcacctgaggtcaggaattcaagaccagcctggccaaaatggtgaaacActgtctctactaaaaaatacaaaaattagccaggcgtggtggtgggagcAGAGGGAGACGGACGTCTCAATAAatcgcttattcgAGATCGAGACCCGACGC chr2:238347842-Variant-A;Patient-69 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Variant A cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTGGTTGCTATT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActggttgctattAGATCGAGACCCGACGC chr2:241035735-Variant-A;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Variant A cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgacc ATTGGCGTCACG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAattggcgtcacgAGATCGAGACCCGACGC chr2:241035735-Variant-A;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative C cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgacc GTAATTCCTCGT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAgtaattcctcgtAGATCGAGACCCGACGC chr2:241035735-Alternative-C;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative C cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgacc AGCGTGAGAACG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAagcgtgagaacgAGATCGAGACCCGACGC chr2:241035735-Alternative-C;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Reference G cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgacc ACCACGGATTCG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAaccacggattcgAGATCGAGACCCGACGC chr2:241035735-Reference-G;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative C cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgacc GACGCTATGCGA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAgacgctatgcgaAGATCGAGACCCGACGC chr2:241035735-Alternative-C;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Reference G cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgacc AATACCAACAGG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAaataccaacaggAGATCGAGACCCGACGC chr2:241035735-Reference-G;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Variant A cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTTGTTCAGCTA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActtgttcagctaAGATCGAGACCCGACGC chr2:241035735-Variant-A;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative C cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTGTCATTGCCG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActgtcattgccgAGATCGAGACCCGACGC chr2:241035735-Alternative-C;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative C cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgacc GGCTACATCTGG CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctCccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAggctacatctggAGATCGAGACCCGACGC chr2:241035735-Alternative-C;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Variant A cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTTACTGCGCGA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActtactgcgcgaAGATCGAGACCCGACGC chr2:241035735-Variant-A;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Variant A cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgacc AATGCCTAACGA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctAccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAaatgcctaacgaAGATCGAGACCCGACGC chr2:241035735-Variant-A;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Reference G cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgacc AACTCCAGTACA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAaactccagtacaAGATCGAGACCCGACGC chr2:241035735-Reference-G;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Reference G cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTATCATTGCGT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActatcattgcgtAGATCGAGACCCGACGC chr2:241035735-Reference-G;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative T cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgacc GTCGATTGCGGT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAgtcgattgcggtAGATCGAGACCCGACGC chr2:241035735-Alternative-T;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative T cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgacc AGTCTAGCACAT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAagtctagcacatAGATCGAGACCCGACGC chr2:241035735-Alternative-T;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative T cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CGTAGTTCGATA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAcgtagttcgataAGATCGAGACCCGACGC chr2:241035735-Alternative-T;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative T cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CAACACAATCGT CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAcaacacaatcgtAGATCGAGACCCGACGC chr2:241035735-Alternative-T;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Reference G cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CTCTAATCCGAA CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctGccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAActctaatccgaaAGATCGAGACCCGACGC chr2:241035735-Reference-G;Patient-55 chr2:241035735-GA Inherited Patient-55 intergenic 0.000797 0.00103 1.37 15.22 0.15 NDUFA10 70915 Alternative T cagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgacc CGGCTTGCTAAC CGACGCGGTCTCTCTCTcagcgcaaacccgccccgtccagccccctcctggctttgccccgccacctTccctggtagcttcacacaagggacagaatctcttgggagctacatgaccAGAGGGAGACGGACGTCTCAATAAcggcttgctaacAGATCGAGACCCGACGC chr2:241035735-Alternative-T;Patient-55 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Reference C cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ACCTCGAGTTCT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAacctcgagttctAGATCGAGACCCGACGC chr2:241406055-Reference-C;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Reference C cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CGTGACTCCGTT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAcgtgactccgttAGATCGAGACCCGACGC chr2:241406055-Reference-C;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative G cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg GCAACATGAGAT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAgcaacatgagatAGATCGAGACCCGACGC chr2:241406055-Alternative-G;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Reference C cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg GATAATGCGTCA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAgataatgcgtcaAGATCGAGACCCGACGC chr2:241406055-Reference-C;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Reference C cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ACTACGCTACGG CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAactacgctacggAGATCGAGACCCGACGC chr2:241406055-Reference-C;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Reference C cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CTCGCACTACGT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccCgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAActcgcactacgtAGATCGAGACCCGACGC chr2:241406055-Reference-C;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative G cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ATCGTAGGTTCA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAatcgtaggttcaAGATCGAGACCCGACGC chr2:241406055-Alternative-G;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Variant T cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CTAGTTGATGCA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAActagttgatgcaAGATCGAGACCCGACGC chr2:241406055-Variant-T;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative G cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CGATCGAGGCTA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAcgatcgaggctaAGATCGAGACCCGACGC chr2:241406055-Alternative-G;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative A cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CAACGATACCGT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAcaacgataccgtAGATCGAGACCCGACGC chr2:241406055-Alternative-A;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Variant T cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg GTTCCTATCACG CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAgttcctatcacgAGATCGAGACCCGACGC chr2:241406055-Variant-T;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative G cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ACTACGCCTAAC CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAactacgcctaacAGATCGAGACCCGACGC chr2:241406055-Alternative-G;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative A cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg AAGGAACGACGC CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAaaggaacgacgcAGATCGAGACCCGACGC chr2:241406055-Alternative-A;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative G cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ATCTCCGTGTGC CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccGgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAatctccgtgtgcAGATCGAGACCCGACGC chr2:241406055-Alternative-G;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Variant T cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ATCCGGTAGCTT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAatccggtagcttAGATCGAGACCCGACGC chr2:241406055-Variant-T;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Variant T cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CACGGCATCGAA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAcacggcatcgaaAGATCGAGACCCGACGC chr2:241406055-Variant-T;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative A cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg AGCCTGCGTACT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAagcctgcgtactAGATCGAGACCCGACGC chr2:241406055-Alternative-A;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Variant T cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg CGGTGAATCCGA CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccTgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAcggtgaatccgaAGATCGAGACCCGACGC chr2:241406055-Variant-T;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative A cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg GGCGATTAGTGG CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAggcgattagtggAGATCGAGACCCGACGC chr2:241406055-Alternative-A;Patient-64 chr2:241406055-CT DeNovo Patient-64 3 prime UTR GPC1 3.2e-05 0.00016 0.03 3.04 -0.69 GPC1 30939 Alternative A cgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactg ATTGACGGTCCT CGACGCGGTCTCTCTCTcgccgcagaagcagcccctcgaggcctacagaggaggcctcaaagcaaccAgctggagcccacagcgagcctgtgccttcctccccgcctcctcccactgAGAGGGAGACGGACGTCTCAATAAattgacggtcctAGATCGAGACCCGACGC chr2:241406055-Alternative-A;Patient-64 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative C aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CGACACATAAGA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcgacacataagaAGATCGAGACCCGACGC chr2:241583143-Alternative-C;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Reference G aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CGGAAGTTAGAT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcggaagttagatAGATCGAGACCCGACGC chr2:241583143-Reference-G;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative C aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GGTGAGGTGTAC CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAggtgaggtgtacAGATCGAGACCCGACGC chr2:241583143-Alternative-C;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative C aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg ACCGGTGTCTGT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAaccggtgtctgtAGATCGAGACCCGACGC chr2:241583143-Alternative-C;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative T aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg ACCTAATGTCGA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAacctaatgtcgaAGATCGAGACCCGACGC chr2:241583143-Alternative-T;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative C aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CAACATAGGCGG CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcaacataggcggAGATCGAGACCCGACGC chr2:241583143-Alternative-C;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Variant A aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg ACTGGCGACATT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAactggcgacattAGATCGAGACCCGACGC chr2:241583143-Variant-A;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Variant A aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GGAAGTTGGTCG CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAggaagttggtcgAGATCGAGACCCGACGC chr2:241583143-Variant-A;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Variant A aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg AAGCGGCTATAT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAaagcggctatatAGATCGAGACCCGACGC chr2:241583143-Variant-A;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative T aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GTATCCTGATGA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAgtatcctgatgaAGATCGAGACCCGACGC chr2:241583143-Alternative-T;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Variant A aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GGCTTCTAGCGT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAggcttctagcgtAGATCGAGACCCGACGC chr2:241583143-Variant-A;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative T aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg ACCTACGGTCGA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAacctacggtcgaAGATCGAGACCCGACGC chr2:241583143-Alternative-T;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Reference G aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CTAGTTGTTCAC CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAActagttgttcacAGATCGAGACCCGACGC chr2:241583143-Reference-G;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Variant A aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GGCGAATATTCA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgAgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAggcgaatattcaAGATCGAGACCCGACGC chr2:241583143-Variant-A;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative C aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CGATTCGCAACG CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgCgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcgattcgcaacgAGATCGAGACCCGACGC chr2:241583143-Alternative-C;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Reference G aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg AGCGTACCTGCA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAagcgtacctgcaAGATCGAGACCCGACGC chr2:241583143-Reference-G;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative T aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg AGAGTATCCGTT CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAagagtatccgttAGATCGAGACCCGACGC chr2:241583143-Alternative-T;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Alternative T aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CATGCTACAACA CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgTgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcatgctacaacaAGATCGAGACCCGACGC chr2:241583143-Alternative-T;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Reference G aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg GTAGCGTAACGG CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAgtagcgtaacggAGATCGAGACCCGACGC chr2:241583143-Reference-G;Patient-22 chr2:241583143-GA Inherited Patient-22 intergenic 0.000128 0.000513 0.12 4.56 0.43 GPR35 38317 Reference G aggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctggg CAAGGTAACGAG CGACGCGGTCTCTCTCTaggtcctggggattctgcagaattcccaccccacttaggagctgttcctgGgagggtggtgcagcagagaggccacgcaccccgccctgcttaccctgggAGAGGGAGACGGACGTCTCAATAAcaaggtaacgagAGATCGAGACCCGACGC chr2:241583143-Reference-G;Patient-22 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative G agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GGATGGTTAGAA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAggatggttagaaAGATCGAGACCCGACGC chr2:241801917-Alternative-G;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative G agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AGTAATCGGCTT CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAagtaatcggcttAGATCGAGACCCGACGC chr2:241801917-Alternative-G;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative G agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa ACTCCGACGCAA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAactccgacgcaaAGATCGAGACCCGACGC chr2:241801917-Alternative-G;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative G agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AAGGCCGATACG CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAaaggccgatacgAGATCGAGACCCGACGC chr2:241801917-Alternative-G;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative G agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AAGTCCGCCTAA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaGatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAaagtccgcctaaAGATCGAGACCCGACGC chr2:241801917-Alternative-G;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Variant T agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AGCGTGTGGTCA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAagcgtgtggtcaAGATCGAGACCCGACGC chr2:241801917-Variant-T;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Variant T agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CGCGATTAAGCG CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcgcgattaagcgAGATCGAGACCCGACGC chr2:241801917-Variant-T;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Variant T agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CAGTTCCGCTGA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcagttccgctgaAGATCGAGACCCGACGC chr2:241801917-Variant-T;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Reference C agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GCGGTCAGCTTA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAgcggtcagcttaAGATCGAGACCCGACGC chr2:241801917-Reference-C;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Variant T agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AGCGCAATAACA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAagcgcaataacaAGATCGAGACCCGACGC chr2:241801917-Variant-T;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Variant T agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CGCTAACTCGCA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaTatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcgctaactcgcaAGATCGAGACCCGACGC chr2:241801917-Variant-T;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Reference C agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CACATTACTACG CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcacattactacgAGATCGAGACCCGACGC chr2:241801917-Reference-C;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Reference C agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GGTGGAACGAAG CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAggtggaacgaagAGATCGAGACCCGACGC chr2:241801917-Reference-C;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative A agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GCGTTAATCACG CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAgcgttaatcacgAGATCGAGACCCGACGC chr2:241801917-Alternative-A;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative A agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CGATCCTTCAAT CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcgatccttcaatAGATCGAGACCCGACGC chr2:241801917-Alternative-A;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Reference C agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CACGCGTGATGA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcacgcgtgatgaAGATCGAGACCCGACGC chr2:241801917-Reference-C;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative A agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GGACGGAATAAC CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAggacggaataacAGATCGAGACCCGACGC chr2:241801917-Alternative-A;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative A agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa AACCGGCGTTCA CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAaaccggcgttcaAGATCGAGACCCGACGC chr2:241801917-Alternative-A;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Reference C agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa CGACGCGGTATT CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaCatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAcgacgcggtattAGATCGAGACCCGACGC chr2:241801917-Reference-C;Patient-72 chr2:241801917-CT DeNovo Patient-72 intergenic 3.2e-05 0.00154 0 2.67 0 AGXT 6244 Alternative A agagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataa GTGACGGTTATT CGACGCGGTCTCTCTCTagagggtacgaatatgaactcctccctttggattaatagcaaaacctttaAatgaaaccctcaaaggagctgagggacaacctctaacatggactaataaAGAGGGAGACGGACGTCTCAATAAgtgacggttattAGATCGAGACCCGACGC chr2:241801917-Alternative-A;Patient-72 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative G acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga CTACAACGTCAA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAActacaacgtcaaAGATCGAGACCCGACGC chr2:241857463-Alternative-G;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative G acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AATCGATGCATC CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaatcgatgcatcAGATCGAGACCCGACGC chr2:241857463-Alternative-G;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative G acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AGTAGCGCAATA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAagtagcgcaataAGATCGAGACCCGACGC chr2:241857463-Alternative-G;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative G acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga GGCAGTAACGGT CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAggcagtaacggtAGATCGAGACCCGACGC chr2:241857463-Alternative-G;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative G acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AATCATAGCGCA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgGgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaatcatagcgcaAGATCGAGACCCGACGC chr2:241857463-Alternative-G;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Variant T acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga ATAGTCGAGCTA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAatagtcgagctaAGATCGAGACCCGACGC chr2:241857463-Variant-T;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Variant T acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AAGCGCGACATT CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaagcgcgacattAGATCGAGACCCGACGC chr2:241857463-Variant-T;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Variant T acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AGTTGATGCTGT CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAagttgatgctgtAGATCGAGACCCGACGC chr2:241857463-Variant-T;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Variant T acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga CGACACACAGAT CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAcgacacacagatAGATCGAGACCCGACGC chr2:241857463-Variant-T;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Reference A acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga GTACCGGTTGTC CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAgtaccggttgtcAGATCGAGACCCGACGC chr2:241857463-Reference-A;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Variant T acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AGGCTCCTAATA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgTgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaggctcctaataAGATCGAGACCCGACGC chr2:241857463-Variant-T;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Reference A acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga CAGGCTAGCCAA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAcaggctagccaaAGATCGAGACCCGACGC chr2:241857463-Reference-A;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Reference A acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AACTAGGCGGAG CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaactaggcggagAGATCGAGACCCGACGC chr2:241857463-Reference-A;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Reference A acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga GAAGTGTACGAC CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAgaagtgtacgacAGATCGAGACCCGACGC chr2:241857463-Reference-A;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative C acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga GACGCAACTGAG CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAgacgcaactgagAGATCGAGACCCGACGC chr2:241857463-Alternative-C;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative C acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga CAGTCGACGTAC CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAcagtcgacgtacAGATCGAGACCCGACGC chr2:241857463-Alternative-C;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative C acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga AGGTAGTCGGCA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAaggtagtcggcaAGATCGAGACCCGACGC chr2:241857463-Alternative-C;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative C acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga ACAGCGGATGCT CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAacagcggatgctAGATCGAGACCCGACGC chr2:241857463-Alternative-C;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Reference A acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga GAATCGACGATA CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgAgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAgaatcgacgataAGATCGAGACCCGACGC chr2:241857463-Reference-A;Patient-83 chr2:241857463-AT Inherited Patient-83 intergenic NA 0.000513 -0.13 1.17 -0.75 KIF1A 97737 Alternative C acccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattgga ACATCGAATTCG CGACGCGGTCTCTCTCTacccaggcactcctggggcagaagggcagccattcagcaaacacctcctgCgtgtgagcccaggtcctgggccttcctgcccacttctgggcctattggaAGAGGGAGACGGACGTCTCAATAAacatcgaattcgAGATCGAGACCCGACGC chr2:241857463-Alternative-C;Patient-83 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Reference A tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GTTACAATAGCG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgttacaatagcgAGATCGAGACCCGACGC chr2:241861703-Reference-A;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Reference A tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CTGAGCGCGATA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAActgagcgcgataAGATCGAGACCCGACGC chr2:241861703-Reference-A;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative T tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CTGTTCACAGTT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAActgttcacagttAGATCGAGACCCGACGC chr2:241861703-Alternative-T;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative T tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CAGATTACCGGT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAcagattaccggtAGATCGAGACCCGACGC chr2:241861703-Alternative-T;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative C tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc AAGATCCGTAGT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAaagatccgtagtAGATCGAGACCCGACGC chr2:241861703-Alternative-C;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative C tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CTAATCATGCGT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAActaatcatgcgtAGATCGAGACCCGACGC chr2:241861703-Alternative-C;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Reference A tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GCGGCTTGACAT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgcggcttgacatAGATCGAGACCCGACGC chr2:241861703-Reference-A;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative C tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc ATTAAGTAGCGG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAattaagtagcggAGATCGAGACCCGACGC chr2:241861703-Alternative-C;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative C tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GACTATCTATCG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgactatctatcgAGATCGAGACCCGACGC chr2:241861703-Alternative-C;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative C tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GAGGTGACTACG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcCgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgaggtgactacgAGATCGAGACCCGACGC chr2:241861703-Alternative-C;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative T tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc ACCTCGGATAAT CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAacctcggataatAGATCGAGACCCGACGC chr2:241861703-Alternative-T;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Variant G tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GTTACCTAGTAC CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgttacctagtacAGATCGAGACCCGACGC chr2:241861703-Variant-G;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Variant G tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc AACACGACGTGG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAaacacgacgtggAGATCGAGACCCGACGC chr2:241861703-Variant-G;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Reference A tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GCGCTCTCAATA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgcgctctcaataAGATCGAGACCCGACGC chr2:241861703-Reference-A;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Variant G tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc AGGTACGCATAA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAaggtacgcataaAGATCGAGACCCGACGC chr2:241861703-Variant-G;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Variant G tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc ATCCTCGATAAG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAatcctcgataagAGATCGAGACCCGACGC chr2:241861703-Variant-G;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative T tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CGACATCTAAGG CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAcgacatctaaggAGATCGAGACCCGACGC chr2:241861703-Alternative-T;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Variant G tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc GATGAACAGCGA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcGgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAgatgaacagcgaAGATCGAGACCCGACGC chr2:241861703-Variant-G;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Reference A tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CAAGTAGCTACA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcAgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAcaagtagctacaAGATCGAGACCCGACGC chr2:241861703-Reference-A;Patient-34 chr2:241861703-AG Inherited Patient-34 intergenic 0.000733 0.00154 0.2 5.88 0.08 AGXT 53540 Alternative T tgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggc CGACTAGTACCA CGACGCGGTCTCTCTCTtgggccaccatactcacactgtcctcaaggcctgatgggattggcacatcTgtgcaacccagcatgcccctgcccctcccctcctctgccagccgtgggcAGAGGGAGACGGACGTCTCAATAAcgactagtaccaAGATCGAGACCCGACGC chr2:241861703-Alternative-T;Patient-34 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative G ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GAGATCTGTCGC CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAgagatctgtcgcAGATCGAGACCCGACGC chr2:242767312-Alternative-G;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative G ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggag AATCGTGTACCT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAaatcgtgtacctAGATCGAGACCCGACGC chr2:242767312-Alternative-G;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative G ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GGACCATGTAAC CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAggaccatgtaacAGATCGAGACCCGACGC chr2:242767312-Alternative-G;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative G ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ACACTTCGCAGA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAacacttcgcagaAGATCGAGACCCGACGC chr2:242767312-Alternative-G;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Variant T ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ACTACACGTCAA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAactacacgtcaaAGATCGAGACCCGACGC chr2:242767312-Variant-T;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative G ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ACCGTAATAGCG CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagGgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAaccgtaatagcgAGATCGAGACCCGACGC chr2:242767312-Alternative-G;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Variant T ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggag CGGTCGTTCACA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAcggtcgttcacaAGATCGAGACCCGACGC chr2:242767312-Variant-T;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Reference C ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggag AGCGTTAGTAAC CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAagcgttagtaacAGATCGAGACCCGACGC chr2:242767312-Reference-C;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative A ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ACTTCGAACGCA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAacttcgaacgcaAGATCGAGACCCGACGC chr2:242767312-Alternative-A;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Reference C ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggag CTAGATTCGGAT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAActagattcggatAGATCGAGACCCGACGC chr2:242767312-Reference-C;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Reference C ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GTCTAGGATGTT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAgtctaggatgttAGATCGAGACCCGACGC chr2:242767312-Reference-C;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Reference C ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ATAGCTTCTCGT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAatagcttctcgtAGATCGAGACCCGACGC chr2:242767312-Reference-C;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative A ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ACGAACGGAACA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAacgaacggaacaAGATCGAGACCCGACGC chr2:242767312-Alternative-A;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Variant T ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GTTGGACGTGCT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAgttggacgtgctAGATCGAGACCCGACGC chr2:242767312-Variant-T;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Variant T ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GGCTCTAGCTAT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAggctctagctatAGATCGAGACCCGACGC chr2:242767312-Variant-T;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Variant T ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggag CGGATCGTCCAT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagTgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAcggatcgtccatAGATCGAGACCCGACGC chr2:242767312-Variant-T;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative A ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggag CGGTGTAACGTC CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAcggtgtaacgtcAGATCGAGACCCGACGC chr2:242767312-Alternative-A;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative A ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggag ATCGGTATGGTT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAatcggtatggttAGATCGAGACCCGACGC chr2:242767312-Alternative-A;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Alternative A ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GGAACTAAGCGA CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagAgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAggaactaagcgaAGATCGAGACCCGACGC chr2:242767312-Alternative-A;Patient-35 chr2:242767312-CT DeNovo Patient-35 intergenic 3.2e-05 0.000512821 0.97 13.06 0 NEU4 17151 Reference C ccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggag GTACGACATTGT CGACGCGGTCTCTCTCTccacccacctccgcctcccaaagtgctgggattacaggcgtgagccacagCgcccggccctcattcttcttaataattgcatgagagctgctggtgggagAGAGGGAGACGGACGTCTCAATAAgtacgacattgtAGATCGAGACCCGACGC chr2:242767312-Reference-C;Patient-35 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative C tggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcatttt ACAAGTACACGA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAacaagtacacgaAGATCGAGACCCGACGC chr2:25084392-Alternative-C;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative C tggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcatttt GTTGACATCGGC CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAgttgacatcggcAGATCGAGACCCGACGC chr2:25084392-Alternative-C;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Variant A tggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcatttt GGTGCGACTACA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAggtgcgactacaAGATCGAGACCCGACGC chr2:25084392-Variant-A;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Reference G tggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcatttt ATAGCTCGGAAC CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAatagctcggaacAGATCGAGACCCGACGC chr2:25084392-Reference-G;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative C tggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CTCTGAGTGTGG CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAActctgagtgtggAGATCGAGACCCGACGC chr2:25084392-Alternative-C;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Variant A tggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CACTATGAGCGA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcactatgagcgaAGATCGAGACCCGACGC chr2:25084392-Variant-A;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Reference G tggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcatttt AAGGCAATCAGT CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAaaggcaatcagtAGATCGAGACCCGACGC chr2:25084392-Reference-G;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative T tggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CTAGAATCGTAC CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAActagaatcgtacAGATCGAGACCCGACGC chr2:25084392-Alternative-T;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative C tggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcatttt GAGTACACCGGT CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAgagtacaccggtAGATCGAGACCCGACGC chr2:25084392-Alternative-C;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative C tggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CAGACGCGAGAA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagCactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcagacgcgagaaAGATCGAGACCCGACGC chr2:25084392-Alternative-C;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Reference G tggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CATATAATCGCG CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcatataatcgcgAGATCGAGACCCGACGC chr2:25084392-Reference-G;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Reference G tggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcatttt GTCGTTGTTGCG CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAgtcgttgttgcgAGATCGAGACCCGACGC chr2:25084392-Reference-G;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Reference G tggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcatttt AATGCTTACACG CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagGactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAaatgcttacacgAGATCGAGACCCGACGC chr2:25084392-Reference-G;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Variant A tggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CGACTATGTGCG CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcgactatgtgcgAGATCGAGACCCGACGC chr2:25084392-Variant-A;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative T tggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcatttt AGTACTCTTCGC CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAagtactcttcgcAGATCGAGACCCGACGC chr2:25084392-Alternative-T;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative T tggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcatttt GTGTTCGGCACA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAgtgttcggcacaAGATCGAGACCCGACGC chr2:25084392-Alternative-T;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative T tggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CATAACGCGGCA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcataacgcggcaAGATCGAGACCCGACGC chr2:25084392-Alternative-T;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Variant A tggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CTGGTTGCGTGA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAActggttgcgtgaAGATCGAGACCCGACGC chr2:25084392-Variant-A;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Variant A tggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcatttt AAGTGTAGCAGT CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagAactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAaagtgtagcagtAGATCGAGACCCGACGC chr2:25084392-Variant-A;Patient-27 chr2:25084392-GA DeNovo Patient-27 intronic ADCY3 NA 4.95e-05 -0.34 0.27 -4.2 ADCY3 57662 Alternative T tggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcatttt CGACTCTCGCTA CGACGCGGTCTCTCTCTtggctctttggagccacttccaaaccaggttctgtttcctctcataccagTactgtctgcggccctttccaaagtgtttttccatctattatctcattttAGAGGGAGACGGACGTCTCAATAAcgactctcgctaAGATCGAGACCCGACGC chr2:25084392-Alternative-T;Patient-27 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Reference A aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg ACCGTAATGCCG CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAaccgtaatgccgAGATCGAGACCCGACGC chr2:25092071-Reference-A;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Variant G aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg AATATAAGCGCG CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAaatataagcgcgAGATCGAGACCCGACGC chr2:25092071-Variant-G;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative T aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg ACGGTGGTGTGA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAacggtggtgtgaAGATCGAGACCCGACGC chr2:25092071-Alternative-T;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Reference A aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg CTCGGCTAGCTA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAActcggctagctaAGATCGAGACCCGACGC chr2:25092071-Reference-A;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative T aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg AGGAGAAGCGAC CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAaggagaagcgacAGATCGAGACCCGACGC chr2:25092071-Alternative-T;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Variant G aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GTATAACGAGGT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgtataacgaggtAGATCGAGACCCGACGC chr2:25092071-Variant-G;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Variant G aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg CGCTATCAATCA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAcgctatcaatcaAGATCGAGACCCGACGC chr2:25092071-Variant-G;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative T aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GAATATCTGTCG CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgaatatctgtcgAGATCGAGACCCGACGC chr2:25092071-Alternative-T;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative T aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg CGTGAATCTCAA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAcgtgaatctcaaAGATCGAGACCCGACGC chr2:25092071-Alternative-T;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Variant G aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GTAACGTTCTTC CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgtaacgttcttcAGATCGAGACCCGACGC chr2:25092071-Variant-G;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Reference A aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GATCATAAGCGA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgatcataagcgaAGATCGAGACCCGACGC chr2:25092071-Reference-A;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Reference A aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GAGCATTGCGCT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgagcattgcgctAGATCGAGACCCGACGC chr2:25092071-Reference-A;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative T aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GTGTAACCTTGA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaTagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgtgtaaccttgaAGATCGAGACCCGACGC chr2:25092071-Alternative-T;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Variant G aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GTCGCTTCAGCT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaGagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgtcgcttcagctAGATCGAGACCCGACGC chr2:25092071-Variant-G;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Reference A aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg CGACTACCATAT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaAagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAcgactaccatatAGATCGAGACCCGACGC chr2:25092071-Reference-A;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative C aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg CACGGACCTCTA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAcacggacctctaAGATCGAGACCCGACGC chr2:25092071-Alternative-C;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative C aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg AAGATCCAAGCA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAaagatccaagcaAGATCGAGACCCGACGC chr2:25092071-Alternative-C;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative C aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg ATTGGCGACTTA CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAattggcgacttaAGATCGAGACCCGACGC chr2:25092071-Alternative-C;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative C aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg AGTACAGTGCTT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAagtacagtgcttAGATCGAGACCCGACGC chr2:25092071-Alternative-C;Patient-54 chr2:25092071-AG DeNovo Patient-54 intronic ADCY3 NA 4.95e-05 -0.01 2.48 -0.75 ADCY3 49983 Alternative C aattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttg GTTCAACGCAAT CGACGCGGTCTCTCTCTaattatcttcagtaatgaaaaaaaggaacatcattacccatttcagacaaCagataaaaagaaaatattaagaatattatgccaaaattttgaaaatttgAGAGGGAGACGGACGTCTCAATAAgttcaacgcaatAGATCGAGACCCGACGC chr2:25092071-Alternative-C;Patient-54 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative A ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GCGGATGTTATA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgcggatgttataAGATCGAGACCCGACGC chr2:25945081-Alternative-A;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative A ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa AGCGTTCGACCA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAagcgttcgaccaAGATCGAGACCCGACGC chr2:25945081-Alternative-A;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative G ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GCCTTATTCCGG CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgccttattccggAGATCGAGACCCGACGC chr2:25945081-Alternative-G;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative A ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa ATAGCGGCAGCA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAatagcggcagcaAGATCGAGACCCGACGC chr2:25945081-Alternative-A;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative A ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa CTTACGAGGTAC CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAActtacgaggtacAGATCGAGACCCGACGC chr2:25945081-Alternative-A;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Reference C ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa CGCTAGGTAGGT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAcgctaggtaggtAGATCGAGACCCGACGC chr2:25945081-Reference-C;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Reference C ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa AATAGTGGCAGT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAaatagtggcagtAGATCGAGACCCGACGC chr2:25945081-Reference-C;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative G ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa ATAGTCGTGGAA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAatagtcgtggaaAGATCGAGACCCGACGC chr2:25945081-Alternative-G;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Variant T ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GTATCTGATGGT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgtatctgatggtAGATCGAGACCCGACGC chr2:25945081-Variant-T;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Variant T ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GGTACTGACAGG CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAggtactgacaggAGATCGAGACCCGACGC chr2:25945081-Variant-T;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative G ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa CGGAATTGTGTT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAcggaattgtgttAGATCGAGACCCGACGC chr2:25945081-Alternative-G;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Reference C ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa AGGTAGGATTCA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAaggtaggattcaAGATCGAGACCCGACGC chr2:25945081-Reference-C;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative A ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GCGAATATACAC CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttAgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgcgaatatacacAGATCGAGACCCGACGC chr2:25945081-Alternative-A;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative G ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GATTGCACAGAA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgattgcacagaaAGATCGAGACCCGACGC chr2:25945081-Alternative-G;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Reference C ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa AACGTGGTCGTC CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAaacgtggtcgtcAGATCGAGACCCGACGC chr2:25945081-Reference-C;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Variant T ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa ACTTACTGACCT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAacttactgacctAGATCGAGACCCGACGC chr2:25945081-Variant-T;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Variant T ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GACGGAGCAACT CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgacggagcaactAGATCGAGACCCGACGC chr2:25945081-Variant-T;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Alternative G ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa CGGATAGTCGTC CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttGgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAcggatagtcgtcAGATCGAGACCCGACGC chr2:25945081-Alternative-G;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Reference C ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa CGTAGCCTATTA CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttCgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAcgtagcctattaAGATCGAGACCCGACGC chr2:25945081-Reference-C;Patient-87 chr2:25945081-CT Inherited Patient-87 intergenic 0.000383 0.000513 -0.05 1.99 0.24 DTNB 48564 Variant T ccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaa GCATATAAGGAC CGACGCGGTCTCTCTCTccctctgaaggaaagcgaggaggtgtatataaaattcatgatattaggttTgtgcaaaagtaattgcggtttttgccgttaaaaatggcaaaaaccacaaAGAGGGAGACGGACGTCTCAATAAgcatataaggacAGATCGAGACCCGACGC chr2:25945081-Variant-T;Patient-87 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative G gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CAGCACGAATAA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcagcacgaataaAGATCGAGACCCGACGC chr2:26069475-Alternative-G;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative G gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CGTGCACGCATA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcgtgcacgcataAGATCGAGACCCGACGC chr2:26069475-Alternative-G;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative G gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GGTTACTCACAT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAggttactcacatAGATCGAGACCCGACGC chr2:26069475-Alternative-G;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative G gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CGACTCTGAACA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcgactctgaacaAGATCGAGACCCGACGC chr2:26069475-Alternative-G;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative G gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag ACGCGAACGACT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgGcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAacgcgaacgactAGATCGAGACCCGACGC chr2:26069475-Alternative-G;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Variant T gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CGTTACCGTTCG CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcgttaccgttcgAGATCGAGACCCGACGC chr2:26069475-Variant-T;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Variant T gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GTTGGATGTAGA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAgttggatgtagaAGATCGAGACCCGACGC chr2:26069475-Variant-T;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Reference C gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CAACGAATGTCA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcaacgaatgtcaAGATCGAGACCCGACGC chr2:26069475-Reference-C;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Variant T gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GATGTGCTGCGT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAgatgtgctgcgtAGATCGAGACCCGACGC chr2:26069475-Variant-T;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Reference C gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GGCCGAGAATCA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAggccgagaatcaAGATCGAGACCCGACGC chr2:26069475-Reference-C;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative A gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag AACGAAGGCCGA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAaacgaaggccgaAGATCGAGACCCGACGC chr2:26069475-Alternative-A;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Variant T gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CTAGGTGATCAT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAActaggtgatcatAGATCGAGACCCGACGC chr2:26069475-Variant-T;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Variant T gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag AACGTGGTAGAT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgTcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAaacgtggtagatAGATCGAGACCCGACGC chr2:26069475-Variant-T;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative A gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GTTACGGTGCGT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAgttacggtgcgtAGATCGAGACCCGACGC chr2:26069475-Alternative-A;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative A gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GCGTACACTAGT CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAgcgtacactagtAGATCGAGACCCGACGC chr2:26069475-Alternative-A;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative A gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag AAGCACGCGTAC CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAaagcacgcgtacAGATCGAGACCCGACGC chr2:26069475-Alternative-A;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Alternative A gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GCGGAGTATCAG CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgAcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAgcggagtatcagAGATCGAGACCCGACGC chr2:26069475-Alternative-A;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Reference C gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag CGAACACCGTAC CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAcgaacaccgtacAGATCGAGACCCGACGC chr2:26069475-Reference-C;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Reference C gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag GGTACGAGAGCA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAggtacgagagcaAGATCGAGACCCGACGC chr2:26069475-Reference-C;Patient-55 chr2:26069475-CT Inherited Patient-55 intronic ASXL2 NA 4.95e-05 -0.07 1.73 0.42 ASXL2 31836 Reference C gagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaag AGTTCGCACCGA CGACGCGGTCTCTCTCTgagaatcacttgaacctgggagacagaggttgcagtgagctgggatcatgCcactgcactccatcctgggcaacagagcgagactccatctcaaaaaaagAGAGGGAGACGGACGTCTCAATAAagttcgcaccgaAGATCGAGACCCGACGC chr2:26069475-Reference-C;Patient-55 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Variant A atgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AATGCTTGATGC CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaatgcttgatgcAGATCGAGACCCGACGC chr2:26639079-Variant-A;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Variant A atgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AATAGCAAGTCG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaatagcaagtcgAGATCGAGACCCGACGC chr2:26639079-Variant-A;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Reference T atgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AGACTGTATCAG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAagactgtatcagAGATCGAGACCCGACGC chr2:26639079-Reference-T;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Variant A atgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcatttttttt CATCGAGAGCTA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAcatcgagagctaAGATCGAGACCCGACGC chr2:26639079-Variant-A;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative C atgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt CGACGGTACACT CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAcgacggtacactAGATCGAGACCCGACGC chr2:26639079-Alternative-C;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative C atgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt GAGGTACGGCTA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAgaggtacggctaAGATCGAGACCCGACGC chr2:26639079-Alternative-C;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative C atgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt ATTGCGGCCAAG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAattgcggccaagAGATCGAGACCCGACGC chr2:26639079-Alternative-C;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Reference T atgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt GTCTCGCAATAA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAgtctcgcaataaAGATCGAGACCCGACGC chr2:26639079-Reference-T;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Reference T atgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt GTAGCGTGAGAA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAgtagcgtgagaaAGATCGAGACCCGACGC chr2:26639079-Reference-T;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Reference T atgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt GATTATCTAGCG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAgattatctagcgAGATCGAGACCCGACGC chr2:26639079-Reference-T;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Variant A atgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcatttttttt CTCTCTCACGTC CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAActctctcacgtcAGATCGAGACCCGACGC chr2:26639079-Variant-A;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative C atgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt CAATGGCTACTA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAcaatggctactaAGATCGAGACCCGACGC chr2:26639079-Alternative-C;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Variant A atgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AAGGTGAATTCG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaActgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaaggtgaattcgAGATCGAGACCCGACGC chr2:26639079-Variant-A;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative C atgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AAGCGCACAACC CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaCctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaagcgcacaaccAGATCGAGACCCGACGC chr2:26639079-Alternative-C;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Reference T atgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt ACGTCCGGTTCA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaTctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAacgtccggttcaAGATCGAGACCCGACGC chr2:26639079-Reference-T;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative G atgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AACCGTTAGCGG CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaaccgttagcggAGATCGAGACCCGACGC chr2:26639079-Alternative-G;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative G atgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AGCTGGTATAGA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAagctggtatagaAGATCGAGACCCGACGC chr2:26639079-Alternative-G;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative G atgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt ACACTAGGCCGA CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAacactaggccgaAGATCGAGACCCGACGC chr2:26639079-Alternative-G;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative G atgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt AAGGTAGTCGGC CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAaaggtagtcggcAGATCGAGACCCGACGC chr2:26639079-Alternative-G;Patient-104 chr2:26639079-TA DeNovo Patient-104 intronic DRC1 NA 3.91e-05 0.03 3.06 1.62 DRC1 14294 Alternative G atgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcatttttttt CAGGCTACGGAT CGACGCGGTCTCTCTCTatgctcccttcctcaagattaaggcattgattattagttctgacctaagaGctgggcaggctggtccccacccttgaccctgcagtttttcattttttttAGAGGGAGACGGACGTCTCAATAAcaggctacggatAGATCGAGACCCGACGC chr2:26639079-Alternative-G;Patient-104 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Reference G ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc AATCTCGCGGAC CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAaatctcgcggacAGATCGAGACCCGACGC chr2:26941004-Reference-G;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Variant T ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CACGCCACTACA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcacgccactacaAGATCGAGACCCGACGC chr2:26941004-Variant-T;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Reference G ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc ATCTGTTGGTCT CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAatctgttggtctAGATCGAGACCCGACGC chr2:26941004-Reference-G;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Variant T ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CGGAACAGATTA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcggaacagattaAGATCGAGACCCGACGC chr2:26941004-Variant-T;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Variant T ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CGTAACGTAGAA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcgtaacgtagaaAGATCGAGACCCGACGC chr2:26941004-Variant-T;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Reference G ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GCGTTACGTCGA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAgcgttacgtcgaAGATCGAGACCCGACGC chr2:26941004-Reference-G;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative A ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GTGTCGTCAACG CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAgtgtcgtcaacgAGATCGAGACCCGACGC chr2:26941004-Alternative-A;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Reference G ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GGCTGTAACTAA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAggctgtaactaaAGATCGAGACCCGACGC chr2:26941004-Reference-G;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Variant T ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GGATCGTAAGTT CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAggatcgtaagttAGATCGAGACCCGACGC chr2:26941004-Variant-T;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Variant T ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GAATGACGCGTC CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagTcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAgaatgacgcgtcAGATCGAGACCCGACGC chr2:26941004-Variant-T;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Reference G ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc AGTACGGTCGAG CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagGcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAagtacggtcgagAGATCGAGACCCGACGC chr2:26941004-Reference-G;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative C ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CAGGACGCGAAT CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcaggacgcgaatAGATCGAGACCCGACGC chr2:26941004-Alternative-C;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative C ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CGACAGGATAGA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcgacaggatagaAGATCGAGACCCGACGC chr2:26941004-Alternative-C;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative A ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CGACGACACCTA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcgacgacacctaAGATCGAGACCCGACGC chr2:26941004-Alternative-A;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative C ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CATCGCGCTAAG CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcatcgcgctaagAGATCGAGACCCGACGC chr2:26941004-Alternative-C;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative A ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GTTCTGCACCAC CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAgttctgcaccacAGATCGAGACCCGACGC chr2:26941004-Alternative-A;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative C ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CATCGACGCGAA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAcatcgacgcgaaAGATCGAGACCCGACGC chr2:26941004-Alternative-C;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative C ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc ATTCGACGGCGT CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagCcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAattcgacggcgtAGATCGAGACCCGACGC chr2:26941004-Alternative-C;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative A ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc CTCTCGCGTTCA CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAActctcgcgttcaAGATCGAGACCCGACGC chr2:26941004-Alternative-A;Patient-37 chr2:26941004-GT Inherited Patient-37 intronic KCNK3 NA 4.95e-05 0.31 7.38 -0.6 KCNK3 25422 Alternative A ctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccacc GGCAAGAACGTC CGACGCGGTCTCTCTCTctcctcctctcatcccgaactcttggatcctccgcttccctctagctcagAcctgagcacttgacaactggaccatgcagaggacctcagtggatccaccAGAGGGAGACGGACGTCTCAATAAggcaagaacgtcAGATCGAGACCCGACGC chr2:26941004-Alternative-A;Patient-37 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Variant A ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc CTTGCGGAAGCA CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAActtgcggaagcaAGATCGAGACCCGACGC chr2:26971791-Variant-A;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Variant A ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc ACCGAATTCCGA CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAaccgaattccgaAGATCGAGACCCGACGC chr2:26971791-Variant-A;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Variant A ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GAATCTTGCGCG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgaatcttgcgcgAGATCGAGACCCGACGC chr2:26971791-Variant-A;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Variant A ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc ATCTCCGGATGC CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAatctccggatgcAGATCGAGACCCGACGC chr2:26971791-Variant-A;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative C ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GTATAGCCGATT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgtatagccgattAGATCGAGACCCGACGC chr2:26971791-Alternative-C;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative T ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GTTACTCTGCCG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgttactctgccgAGATCGAGACCCGACGC chr2:26971791-Alternative-T;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Reference G ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GAGATATCTAGG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgagatatctaggAGATCGAGACCCGACGC chr2:26971791-Reference-G;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative C ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc ACACGAACCGCA CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAacacgaaccgcaAGATCGAGACCCGACGC chr2:26971791-Alternative-C;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative C ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GCGTACAGATAA CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgcgtacagataaAGATCGAGACCCGACGC chr2:26971791-Alternative-C;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative T ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GATCCGACCAAG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgatccgaccaagAGATCGAGACCCGACGC chr2:26971791-Alternative-T;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative T ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc AGCCGCGGATAT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAagccgcggatatAGATCGAGACCCGACGC chr2:26971791-Alternative-T;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative C ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GTTCGTGTGTGG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgttcgtgtgtggAGATCGAGACCCGACGC chr2:26971791-Alternative-C;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Variant A ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GCCTGATGTAAT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcAcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgcctgatgtaatAGATCGAGACCCGACGC chr2:26971791-Variant-A;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative T ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc CATATTGGACGT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAcatattggacgtAGATCGAGACCCGACGC chr2:26971791-Alternative-T;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative C ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc CACGTAACCGAT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcCcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAcacgtaaccgatAGATCGAGACCCGACGC chr2:26971791-Alternative-C;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Alternative T ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc CGATAGCATTGT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcTcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAcgatagcattgtAGATCGAGACCCGACGC chr2:26971791-Alternative-T;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Reference G ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc ACCGACGGTAAG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAaccgacggtaagAGATCGAGACCCGACGC chr2:26971791-Reference-G;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Reference G ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc ACGTGCGGTGAT CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAacgtgcggtgatAGATCGAGACCCGACGC chr2:26971791-Reference-G;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Reference G ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc GCACGGCATAAC CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAgcacggcataacAGATCGAGACCCGACGC chr2:26971791-Reference-G;Patient-91 chr2:26971791-GA DeNovo Patient-91 intergenic 0.00096 0.000513 -0.48 0.1 -0.9 SLC35F6 15350 Reference G ggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgcc CACATCGCTTCG CGACGCGGTCTCTCTCTggtgggaatctaaacttttttttttccttgagacagagtcttgctctgtcGcccaagctggagtgcagtggcacaaactcggctcactgcaacctccgccAGAGGGAGACGGACGTCTCAATAAcacatcgcttcgAGATCGAGACCCGACGC chr2:26971791-Reference-G;Patient-91 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative G tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctg CTCTTCGCGTAC CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAActcttcgcgtacAGATCGAGACCCGACGC chr2:26981743-Alternative-G;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative G tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctg CTCGTTGTCTGG CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAActcgttgtctggAGATCGAGACCCGACGC chr2:26981743-Alternative-G;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Reference T tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctg ATCGGCAAGTTA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAatcggcaagttaAGATCGAGACCCGACGC chr2:26981743-Reference-T;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative G tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctg GTGAATTCTGCA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAgtgaattctgcaAGATCGAGACCCGACGC chr2:26981743-Alternative-G;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative G tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctg CATCAACTATGG CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAcatcaactatggAGATCGAGACCCGACGC chr2:26981743-Alternative-G;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Reference T tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctg CGCGCATATGGT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAcgcgcatatggtAGATCGAGACCCGACGC chr2:26981743-Reference-T;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative G tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctg GTCTACGCGTCA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcGctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAgtctacgcgtcaAGATCGAGACCCGACGC chr2:26981743-Alternative-G;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Reference T tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctg CAAGCTCTAGGT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAcaagctctaggtAGATCGAGACCCGACGC chr2:26981743-Reference-T;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Variant C tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctg AATCTTGGCACA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAaatcttggcacaAGATCGAGACCCGACGC chr2:26981743-Variant-C;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Variant C tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctg GATCGGTTAGTT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAgatcggttagttAGATCGAGACCCGACGC chr2:26981743-Variant-C;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative A tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctg AATCAAGCAGCA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAaatcaagcagcaAGATCGAGACCCGACGC chr2:26981743-Alternative-A;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Reference T tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctg ATCGTCATGACT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAatcgtcatgactAGATCGAGACCCGACGC chr2:26981743-Reference-T;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Variant C tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctg GGATGGTAGACA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAggatggtagacaAGATCGAGACCCGACGC chr2:26981743-Variant-C;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative A tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctg ACGCATTCAACC CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAacgcattcaaccAGATCGAGACCCGACGC chr2:26981743-Alternative-A;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative A tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctg CTCTTACCGGCA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAActcttaccggcaAGATCGAGACCCGACGC chr2:26981743-Alternative-A;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Variant C tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctg CGTAATCCGAAT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAcgtaatccgaatAGATCGAGACCCGACGC chr2:26981743-Variant-C;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative A tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctg GATCGCGTTATT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAgatcgcgttattAGATCGAGACCCGACGC chr2:26981743-Alternative-A;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Reference T tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctg ACGACAACAGAT CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcTctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAacgacaacagatAGATCGAGACCCGACGC chr2:26981743-Reference-T;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Alternative A tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctg ACTCGCATTATC CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcActaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAactcgcattatcAGATCGAGACCCGACGC chr2:26981743-Alternative-A;Patient-66 chr2:26981743-TC DeNovo Patient-66 intergenic NA 0.000513 0.56 9.88 2.88 CENPA 27138 Variant C tccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctg CGGAACAAGCCA CGACGCGGTCTCTCTCTtccttaagggcagtgaccttgtcttgcttccttaggaccccatatctggcCctaggccttaaacttagtggactccacggatatttgccaataaactctgAGAGGGAGACGGACGTCTCAATAAcggaacaagccaAGATCGAGACCCGACGC chr2:26981743-Variant-C;Patient-66 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Variant G agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GTGTCGAGAGCA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgtgtcgagagcaAGATCGAGACCCGACGC chr2:27041964-Variant-G;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Variant G agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagt ATCGCTTGTTCT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAatcgcttgttctAGATCGAGACCCGACGC chr2:27041964-Variant-G;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Variant G agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CGAGGTGTAACC CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAcgaggtgtaaccAGATCGAGACCCGACGC chr2:27041964-Variant-G;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative A agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CTACCAGTCGCT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAActaccagtcgctAGATCGAGACCCGACGC chr2:27041964-Alternative-A;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Variant G agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagt ACACGTAACCGG CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAacacgtaaccggAGATCGAGACCCGACGC chr2:27041964-Variant-G;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Variant G agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GATTATTCGCGT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctGcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgattattcgcgtAGATCGAGACCCGACGC chr2:27041964-Variant-G;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative A agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagt AACTTGATGACC CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAaacttgatgaccAGATCGAGACCCGACGC chr2:27041964-Alternative-A;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative A agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GCATGAGGCTGA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgcatgaggctgaAGATCGAGACCCGACGC chr2:27041964-Alternative-A;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Reference C agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CTCGTCTTGATA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAActcgtcttgataAGATCGAGACCCGACGC chr2:27041964-Reference-C;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Reference C agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GGCTAATGACGG CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAggctaatgacggAGATCGAGACCCGACGC chr2:27041964-Reference-C;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Reference C agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CTGTTATCCTGA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAActgttatcctgaAGATCGAGACCCGACGC chr2:27041964-Reference-C;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative A agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GCGTAACATTCT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgcgtaacattctAGATCGAGACCCGACGC chr2:27041964-Alternative-A;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative T agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagt AGCTACGGCGAA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAagctacggcgaaAGATCGAGACCCGACGC chr2:27041964-Alternative-T;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative T agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CTCTGGCTATCG CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAActctggctatcgAGATCGAGACCCGACGC chr2:27041964-Alternative-T;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative T agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GCGTTCCTAGGT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgcgttcctaggtAGATCGAGACCCGACGC chr2:27041964-Alternative-T;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative A agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagt AAGCATCCAAGA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctAcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAaagcatccaagaAGATCGAGACCCGACGC chr2:27041964-Alternative-A;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative T agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GTAGATCCTTCT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgtagatccttctAGATCGAGACCCGACGC chr2:27041964-Alternative-T;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Reference C agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagt GTATTACGTGGT CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAgtattacgtggtAGATCGAGACCCGACGC chr2:27041964-Reference-C;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Alternative T agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CTCTTGAAGCCA CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctTcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAActcttgaagccaAGATCGAGACCCGACGC chr2:27041964-Alternative-T;Patient-77 chr2:27041964-CG DeNovo Patient-77 intergenic 3.2e-05 0.000513 NA NA NA DPYSL5 29004 Reference C agggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagt CGTAACGACAGG CGACGCGGTCTCTCTCTagggcacccttgctttagtatccacatgagctgtgctgctgcacgctcctCcctcctgctcttgctctcctccacccacacctggaagcctttatctagtAGAGGGAGACGGACGTCTCAATAAcgtaacgacaggAGATCGAGACCCGACGC chr2:27041964-Reference-C;Patient-77 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Variant A ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct ACACGTAGGAGA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacacgtaggagaAGATCGAGACCCGACGC chr2:27104884-Variant-A;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Variant A ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct CGGTGTCGTTGT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAcggtgtcgttgtAGATCGAGACCCGACGC chr2:27104884-Variant-A;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative C ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GTGTCGCTCCAT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtgtcgctccatAGATCGAGACCCGACGC chr2:27104884-Alternative-C;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative C ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AGCCACGTGAGA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAagccacgtgagaAGATCGAGACCCGACGC chr2:27104884-Alternative-C;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Variant A ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AGACCGATAGGT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAagaccgataggtAGATCGAGACCCGACGC chr2:27104884-Variant-A;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative C ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GGCTCATTATGA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAggctcattatgaAGATCGAGACCCGACGC chr2:27104884-Alternative-C;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative C ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct CGCTATGTACTT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAcgctatgtacttAGATCGAGACCCGACGC chr2:27104884-Alternative-C;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Reference G ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct ACTGGTTGGATT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAactggttggattAGATCGAGACCCGACGC chr2:27104884-Reference-G;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Reference G ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AGATGGACGTGC CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAagatggacgtgcAGATCGAGACCCGACGC chr2:27104884-Reference-G;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative T ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GTGCTAGTGACA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtgctagtgacaAGATCGAGACCCGACGC chr2:27104884-Alternative-T;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Reference G ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AGGCTTGACCAC CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggcttgaccacAGATCGAGACCCGACGC chr2:27104884-Reference-G;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Reference G ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct ACGCAACAACTA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacgcaacaactaAGATCGAGACCCGACGC chr2:27104884-Reference-G;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative C ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GGCTTGCCTCTT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcCggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAggcttgcctcttAGATCGAGACCCGACGC chr2:27104884-Alternative-C;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Variant A ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct ACAAGGACTCGG CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacaaggactcggAGATCGAGACCCGACGC chr2:27104884-Variant-A;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative T ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct CGCCAAGACAAC CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAcgccaagacaacAGATCGAGACCCGACGC chr2:27104884-Alternative-T;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative T ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GACGACACACGA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgacgacacacgaAGATCGAGACCCGACGC chr2:27104884-Alternative-T;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative T ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AATGGATAGCGA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaatggatagcgaAGATCGAGACCCGACGC chr2:27104884-Alternative-T;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Reference G ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct AAGGACGTACCT CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcGggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaaggacgtacctAGATCGAGACCCGACGC chr2:27104884-Reference-G;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Variant A ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GTATCTTGGCAA CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcAggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtatcttggcaaAGATCGAGACCCGACGC chr2:27104884-Variant-A;Patient-81 chr2:27104884-GA DeNovo Patient-81 intronic DPYSL5 0.000341 0.000799 -0.2 0.72 0.05 DPYSL5 33914 Alternative T ctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcct GATGGAGCTAAG CGACGCGGTCTCTCTCTctgcagtctcagctactcgggaggctgaggcaggagaatggcgtgaacgcTggaggcagagcttgcagtgagccgagatcacaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgatggagctaagAGATCGAGACCCGACGC chr2:27104884-Alternative-T;Patient-81 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Variant C tggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GTATAAGGACGT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAgtataaggacgtAGATCGAGACCCGACGC chr2:27183848-Variant-C;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Variant C tggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta AGTTCTGTTGCT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAagttctgttgctAGATCGAGACCCGACGC chr2:27183848-Variant-C;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Reference A tggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGTAAGTTCAAG CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcgtaagttcaagAGATCGAGACCCGACGC chr2:27183848-Reference-A;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Variant C tggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta ACTAGATCAACC CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAactagatcaaccAGATCGAGACCCGACGC chr2:27183848-Variant-C;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Reference A tggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GTGCCGGTCTAA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAgtgccggtctaaAGATCGAGACCCGACGC chr2:27183848-Reference-A;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Reference A tggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGTGTAATGCTA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcgtgtaatgctaAGATCGAGACCCGACGC chr2:27183848-Reference-A;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Variant C tggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GTTCATCGCTTA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAgttcatcgcttaAGATCGAGACCCGACGC chr2:27183848-Variant-C;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative T tggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GTCGCGTGAATT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAgtcgcgtgaattAGATCGAGACCCGACGC chr2:27183848-Alternative-T;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Reference A tggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta AATCTTAGGCGA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAaatcttaggcgaAGATCGAGACCCGACGC chr2:27183848-Reference-A;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Reference A tggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta AAGTACACGTCC CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaAcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAaagtacacgtccAGATCGAGACCCGACGC chr2:27183848-Reference-A;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Variant C tggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGCGTTAGAGGT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaCcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcgcgttagaggtAGATCGAGACCCGACGC chr2:27183848-Variant-C;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative T tggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta AACTCGCGGTCT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAaactcgcggtctAGATCGAGACCCGACGC chr2:27183848-Alternative-T;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative T tggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGGTCGTTCGAT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcggtcgttcgatAGATCGAGACCCGACGC chr2:27183848-Alternative-T;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative T tggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGTTACCATGAA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcgttaccatgaaAGATCGAGACCCGACGC chr2:27183848-Alternative-T;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative G tggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GGTTGTACGCCA CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAggttgtacgccaAGATCGAGACCCGACGC chr2:27183848-Alternative-G;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative T tggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGGTATACATGG CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaTcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcggtatacatggAGATCGAGACCCGACGC chr2:27183848-Alternative-T;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative G tggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CGGAACGAGTCT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcggaacgagtctAGATCGAGACCCGACGC chr2:27183848-Alternative-G;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative G tggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta CAAGAGTGTCTT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAcaagagtgtcttAGATCGAGACCCGACGC chr2:27183848-Alternative-G;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative G tggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta AGCTGCCTAATT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAagctgcctaattAGATCGAGACCCGACGC chr2:27183848-Alternative-G;Patient-21 chr2:27183848-AC Inherited Patient-21 intergenic NA 0.000512821 -0.07 1.74 0.24 MAPRE3 9631 Alternative G tggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtccctta GGCGTCATGGTT CGACGCGGTCTCTCTCTtggggattaactgtcttggacacatcttccctccagacgtctacttcccaGcctctcaatcttttttgcctcccttccacactcattgttgcgtcccttaAGAGGGAGACGGACGTCTCAATAAggcgtcatggttAGATCGAGACCCGACGC chr2:27183848-Alternative-G;Patient-21 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative C gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GTCATACGTGAA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgtcatacgtgaaAGATCGAGACCCGACGC chr2:27209812-Alternative-C;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative C gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg CAACCTTACACG CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAcaaccttacacgAGATCGAGACCCGACGC chr2:27209812-Alternative-C;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Reference G gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GCGGACATGCTA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgcggacatgctaAGATCGAGACCCGACGC chr2:27209812-Reference-G;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative C gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GGCCATAGCCAT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAggccatagccatAGATCGAGACCCGACGC chr2:27209812-Alternative-C;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Variant A gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ATTACTCCGAAG CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAattactccgaagAGATCGAGACCCGACGC chr2:27209812-Variant-A;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Reference G gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ACGCCAGACTTA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAacgccagacttaAGATCGAGACCCGACGC chr2:27209812-Reference-G;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative C gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GATCAAGCTACA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgatcaagctacaAGATCGAGACCCGACGC chr2:27209812-Alternative-C;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative T gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GATTGCCTCGCT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgattgcctcgctAGATCGAGACCCGACGC chr2:27209812-Alternative-T;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Reference G gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg AAGCAACCGGTT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAaagcaaccggttAGATCGAGACCCGACGC chr2:27209812-Reference-G;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Variant A gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg CGATACGCATAT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAcgatacgcatatAGATCGAGACCCGACGC chr2:27209812-Variant-A;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Variant A gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg CAGCGGTTATTA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAcagcggttattaAGATCGAGACCCGACGC chr2:27209812-Variant-A;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Reference G gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ACTAGTTGTGCG CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAactagttgtgcgAGATCGAGACCCGACGC chr2:27209812-Reference-G;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Variant A gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ACGCTCCATAAG CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAacgctccataagAGATCGAGACCCGACGC chr2:27209812-Variant-A;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative C gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GGTTGCATCGGT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccCtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAggttgcatcggtAGATCGAGACCCGACGC chr2:27209812-Alternative-C;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Reference G gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg AACGAACACAAC CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccGtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAaacgaacacaacAGATCGAGACCCGACGC chr2:27209812-Reference-G;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative T gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ATTGCTGGCCGA CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAattgctggccgaAGATCGAGACCCGACGC chr2:27209812-Alternative-T;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative T gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GTTACCGCGAAG CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgttaccgcgaagAGATCGAGACCCGACGC chr2:27209812-Alternative-T;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative T gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg ATCTAGCAGTGT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAatctagcagtgtAGATCGAGACCCGACGC chr2:27209812-Alternative-T;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Alternative T gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GGTGTTGCTCCT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccTtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAggtgttgctcctAGATCGAGACCCGACGC chr2:27209812-Alternative-T;Patient-54 chr2:27209812-GA Inherited Patient-54 intronic MAPRE3 3.2e-05 0.00016 -0.31 0.33 -4.33 MAPRE3 16331 Variant A gtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccg GTCAACGTGATT CGACGCGGTCTCTCTCTgtgcttgtggagtgttggttggagggagagtgggaagctgaggagccaccAtgtgaaagagtttccacctagaggtaagaactcaggagggagtgccccgAGAGGGAGACGGACGTCTCAATAAgtcaacgtgattAGATCGAGACCCGACGC chr2:27209812-Variant-A;Patient-54 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative T ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTGCTTCGGCTT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgtgcttcggcttAGATCGAGACCCGACGC chr2:27504747-Alternative-T;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative G ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa CGATTGACGAGT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAcgattgacgagtAGATCGAGACCCGACGC chr2:27504747-Alternative-G;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative G ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTTCGAGCGTCA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgttcgagcgtcaAGATCGAGACCCGACGC chr2:27504747-Alternative-G;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative G ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa AAGCAACGGACA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAaagcaacggacaAGATCGAGACCCGACGC chr2:27504747-Alternative-G;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative G ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa CTATAAGGCGCG CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAActataaggcgcgAGATCGAGACCCGACGC chr2:27504747-Alternative-G;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative T ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTACGCATCCAA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgtacgcatccaaAGATCGAGACCCGACGC chr2:27504747-Alternative-T;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative G ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa CTCGCTAACGAT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagGctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAActcgctaacgatAGATCGAGACCCGACGC chr2:27504747-Alternative-G;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Reference C ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GATACGCCTATA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgatacgcctataAGATCGAGACCCGACGC chr2:27504747-Reference-C;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Reference C ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa ACTTGCGGTATA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAacttgcggtataAGATCGAGACCCGACGC chr2:27504747-Reference-C;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Reference C ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTTGTACTTGCT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgttgtacttgctAGATCGAGACCCGACGC chr2:27504747-Reference-C;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Variant A ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa ACCTACAGATAC CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAacctacagatacAGATCGAGACCCGACGC chr2:27504747-Variant-A;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative T ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTCGAGTATCAT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgtcgagtatcatAGATCGAGACCCGACGC chr2:27504747-Alternative-T;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative T ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GAATTGACACCT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgaattgacacctAGATCGAGACCCGACGC chr2:27504747-Alternative-T;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Alternative T ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GATCGTTCGTAA CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagTctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgatcgttcgtaaAGATCGAGACCCGACGC chr2:27504747-Alternative-T;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Variant A ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa CAACAGATCACG CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAcaacagatcacgAGATCGAGACCCGACGC chr2:27504747-Variant-A;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Variant A ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GTCAACTAGGCG CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgtcaactaggcgAGATCGAGACCCGACGC chr2:27504747-Variant-A;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Reference C ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GGTTACACAGCT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAggttacacagctAGATCGAGACCCGACGC chr2:27504747-Reference-C;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Reference C ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GACTGCCGTATC CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagCctcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgactgccgtatcAGATCGAGACCCGACGC chr2:27504747-Reference-C;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Variant A ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa GACATAGTACCT CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAgacatagtacctAGATCGAGACCCGACGC chr2:27504747-Variant-A;Patient-104 chr2:27504747-CA DeNovo Patient-104 intergenic NA 3.91e-05 0.87 12.37 1.64 TRIM54 549 Variant A ggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaa AGTACTAGGCGC CGACGCGGTCTCTCTCTggggcatgctcataggtaggtccaggccttggcacaacagtcatttctagActcttgagcttcttttcctagggtgatataagaaaaggccagggaagaaAGAGGGAGACGGACGTCTCAATAAagtactaggcgcAGATCGAGACCCGACGC chr2:27504747-Variant-A;Patient-104 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Variant A caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GAGATGATCGGC CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAgagatgatcggcAGATCGAGACCCGACGC chr2:27694433-Variant-A;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative C caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GACATAACTCGT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAgacataactcgtAGATCGAGACCCGACGC chr2:27694433-Alternative-C;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Variant A caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc ACGCCTAGGTTC CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAacgcctaggttcAGATCGAGACCCGACGC chr2:27694433-Variant-A;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Variant A caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GCATGATGCGCA CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAgcatgatgcgcaAGATCGAGACCCGACGC chr2:27694433-Variant-A;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative C caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc CGACACCTTACG CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAcgacaccttacgAGATCGAGACCCGACGC chr2:27694433-Alternative-C;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative T caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GGATGTCGAGGT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAggatgtcgaggtAGATCGAGACCCGACGC chr2:27694433-Alternative-T;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Variant A caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc CGTAGGTCTGAC CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAcgtaggtctgacAGATCGAGACCCGACGC chr2:27694433-Variant-A;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Reference G caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GGTTCCACCAAG CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAggttccaccaagAGATCGAGACCCGACGC chr2:27694433-Reference-G;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Variant A caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GTTGGCTCTGAG CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaAtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAgttggctctgagAGATCGAGACCCGACGC chr2:27694433-Variant-A;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative C caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc ACTACAACGTCA CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAactacaacgtcaAGATCGAGACCCGACGC chr2:27694433-Alternative-C;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Reference G caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc AGCGTGCTGGAA CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAagcgtgctggaaAGATCGAGACCCGACGC chr2:27694433-Reference-G;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative C caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc CAAGTTGGTCGA CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAcaagttggtcgaAGATCGAGACCCGACGC chr2:27694433-Alternative-C;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Reference G caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GGACTCGTGACT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAggactcgtgactAGATCGAGACCCGACGC chr2:27694433-Reference-G;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative C caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc AGCTCTAGCGGT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaCtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAagctctagcggtAGATCGAGACCCGACGC chr2:27694433-Alternative-C;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative T caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GATACACTCGGC CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAgatacactcggcAGATCGAGACCCGACGC chr2:27694433-Alternative-T;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Reference G caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc ACCACGCCAGAA CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAaccacgccagaaAGATCGAGACCCGACGC chr2:27694433-Reference-G;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative T caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc AATGACTCGCAT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAaatgactcgcatAGATCGAGACCCGACGC chr2:27694433-Alternative-T;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative T caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc GGTTAACATGAG CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAggttaacatgagAGATCGAGACCCGACGC chr2:27694433-Alternative-T;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Alternative T caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc ACGACGTCAACT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaTtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAacgacgtcaactAGATCGAGACCCGACGC chr2:27694433-Alternative-T;Patient-56 chr2:27694433-GA DeNovo Patient-56 intronic IFT172 9.6e-05 4.95e-05 0.1 4.27 1.22 IFT172 18137 Reference G caatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggc CGTCCACAAGGT CGACGCGGTCTCTCTCTcaatgagggacgaagaggctgtcctccagccagttcatgctatcagataaGtgtggctgaaaagcactggacagcaggtctaggtgaaggtcagctaggcAGAGGGAGACGGACGTCTCAATAAcgtccacaaggtAGATCGAGACCCGACGC chr2:27694433-Reference-G;Patient-56 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative C gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat AACCAACCGCAG CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAaaccaaccgcagAGATCGAGACCCGACGC chr2:28909949-Alternative-C;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative C gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat GACATCATCCAA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAgacatcatccaaAGATCGAGACCCGACGC chr2:28909949-Alternative-C;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative C gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat GATGCTCCGTCA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAgatgctccgtcaAGATCGAGACCCGACGC chr2:28909949-Alternative-C;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative C gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CTAGGTCCTAAT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAActaggtcctaatAGATCGAGACCCGACGC chr2:28909949-Alternative-C;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative C gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CTCTTAAGATCG CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggCaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAActcttaagatcgAGATCGAGACCCGACGC chr2:28909949-Alternative-C;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Variant A gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CATTGACGCGTC CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAcattgacgcgtcAGATCGAGACCCGACGC chr2:28909949-Variant-A;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Variant A gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat AGCTGGCCTCAT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAagctggcctcatAGATCGAGACCCGACGC chr2:28909949-Variant-A;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Variant A gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat AGACCTCAATCA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAagacctcaatcaAGATCGAGACCCGACGC chr2:28909949-Variant-A;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Variant A gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CGGCCAAGTTGT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAcggccaagttgtAGATCGAGACCCGACGC chr2:28909949-Variant-A;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Variant A gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat ACTAGTGAACGA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggAaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAactagtgaacgaAGATCGAGACCCGACGC chr2:28909949-Variant-A;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative T gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CTACGTTAACCT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAActacgttaacctAGATCGAGACCCGACGC chr2:28909949-Alternative-T;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative T gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat ACCTTCAACGTT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAaccttcaacgttAGATCGAGACCCGACGC chr2:28909949-Alternative-T;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative T gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CGGCTTGCATGT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAcggcttgcatgtAGATCGAGACCCGACGC chr2:28909949-Alternative-T;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative T gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat AAGATGCTGTTC CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAaagatgctgttcAGATCGAGACCCGACGC chr2:28909949-Alternative-T;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Alternative T gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CTACAACTGTTC CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggTaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAActacaactgttcAGATCGAGACCCGACGC chr2:28909949-Alternative-T;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Reference G gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat GTAGAGCTCCGT CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAgtagagctccgtAGATCGAGACCCGACGC chr2:28909949-Reference-G;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Reference G gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat GTGTCTGTCGTC CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAgtgtctgtcgtcAGATCGAGACCCGACGC chr2:28909949-Reference-G;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Reference G gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CTCTCGGAGACA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAActctcggagacaAGATCGAGACCCGACGC chr2:28909949-Reference-G;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Reference G gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat CATTCAGATGCA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAcattcagatgcaAGATCGAGACCCGACGC chr2:28909949-Reference-G;Patient-30 chr2:28909949-GA Inherited Patient-30 intergenic 0.00051 0.00154 NA NA NA PPP1CB 64664 Reference G gggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaat AGCAAGCGAGCA CGACGCGGTCTCTCTCTgggagaaatggtgcatggctaataagagacaatgaatagaccggtttgggGaggccaggttggagaaatgggcggagtccaattgcaagggctgatgaatAGAGGGAGACGGACGTCTCAATAAagcaagcgagcaAGATCGAGACCCGACGC chr2:28909949-Reference-G;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative C tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AATGCCGTAAGA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAaatgccgtaagaAGATCGAGACCCGACGC chr2:28975432-Alternative-C;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative C tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CTAACCGTGTGG CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAActaaccgtgtggAGATCGAGACCCGACGC chr2:28975432-Alternative-C;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative C tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CTAGGCGCGTAA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAActaggcgcgtaaAGATCGAGACCCGACGC chr2:28975432-Alternative-C;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative C tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AGCTCGATAAGA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAagctcgataagaAGATCGAGACCCGACGC chr2:28975432-Alternative-C;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative C tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CAGGTCGATTCA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtCgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcaggtcgattcaAGATCGAGACCCGACGC chr2:28975432-Alternative-C;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Variant A tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc GGTTAACGTCTA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAggttaacgtctaAGATCGAGACCCGACGC chr2:28975432-Variant-A;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Variant A tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CAAGCGTCGTGT CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcaagcgtcgtgtAGATCGAGACCCGACGC chr2:28975432-Variant-A;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Variant A tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc ACCGAGACAAGG CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAaccgagacaaggAGATCGAGACCCGACGC chr2:28975432-Variant-A;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Variant A tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CGCGGCTACAAT CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcgcggctacaatAGATCGAGACCCGACGC chr2:28975432-Variant-A;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Variant A tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CATGCTATGTTC CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtAgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcatgctatgttcAGATCGAGACCCGACGC chr2:28975432-Variant-A;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative T tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AGTCCGTTGCCT CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAagtccgttgcctAGATCGAGACCCGACGC chr2:28975432-Alternative-T;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative T tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc GAGTTGCGCTGA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAgagttgcgctgaAGATCGAGACCCGACGC chr2:28975432-Alternative-T;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative T tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc GCGTTGGAGCAA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAgcgttggagcaaAGATCGAGACCCGACGC chr2:28975432-Alternative-T;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative T tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CGTCTGAGGCTA CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcgtctgaggctaAGATCGAGACCCGACGC chr2:28975432-Alternative-T;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Alternative T tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AGAGCAGTCAAG CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtTgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAagagcagtcaagAGATCGAGACCCGACGC chr2:28975432-Alternative-T;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Reference G tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AGCGCACTTGTC CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAagcgcacttgtcAGATCGAGACCCGACGC chr2:28975432-Reference-G;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Reference G tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc GTAAGTGTAACG CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAgtaagtgtaacgAGATCGAGACCCGACGC chr2:28975432-Reference-G;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Reference G tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc CGCGGATCTTGT CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAcgcggatcttgtAGATCGAGACCCGACGC chr2:28975432-Reference-G;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Reference G tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc AAGAACGAACCT CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAaagaacgaacctAGATCGAGACCCGACGC chr2:28975432-Reference-G;Patient-30 chr2:28975432-GA Inherited Patient-30 intronic PPP1CB 6.4e-05 4.95e-05 NA NA NA PPP1CB 817 Reference G tgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctc GAATATATGCGC CGACGCGGTCTCTCTCTtgacccgaggatggggagaggatgcctgccactgggctttgtgcgtccgtGgaatcactgttcttctctgttctctttgtgcattgcccttggctgcctcAGAGGGAGACGGACGTCTCAATAAgaatatatgcgcAGATCGAGACCCGACGC chr2:28975432-Reference-G;Patient-30 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative C aagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctga GTGATCGGATAA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgtgatcggataaAGATCGAGACCCGACGC chr2:30103420-Alternative-C;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Reference A aagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctga GTGTCACGCGAA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgtgtcacgcgaaAGATCGAGACCCGACGC chr2:30103420-Reference-A;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative C aagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctga ATTCGTACACCA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAattcgtacaccaAGATCGAGACCCGACGC chr2:30103420-Alternative-C;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Reference A aagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctga GACAAGATTCGC CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgacaagattcgcAGATCGAGACCCGACGC chr2:30103420-Reference-A;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Reference A aagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctga AGGCGAGTGAAC CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAaggcgagtgaacAGATCGAGACCCGACGC chr2:30103420-Reference-A;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative T aagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctga ATAGCGTCTGTT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAatagcgtctgttAGATCGAGACCCGACGC chr2:30103420-Alternative-T;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative T aagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctga GGACACTTAGTT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAggacacttagttAGATCGAGACCCGACGC chr2:30103420-Alternative-T;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Reference A aagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctga GATGATACCATC CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgatgataccatcAGATCGAGACCCGACGC chr2:30103420-Reference-A;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Reference A aagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctga CTCATCGCATGC CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttAtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAActcatcgcatgcAGATCGAGACCCGACGC chr2:30103420-Reference-A;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative C aagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctga GGACTCATAGCT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAggactcatagctAGATCGAGACCCGACGC chr2:30103420-Alternative-C;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative T aagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctga ACGAGTGTGACG CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAacgagtgtgacgAGATCGAGACCCGACGC chr2:30103420-Alternative-T;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Variant G aagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctga GACCTGCTTCGT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgacctgcttcgtAGATCGAGACCCGACGC chr2:30103420-Variant-G;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Variant G aagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctga GTTGGATGAACA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgttggatgaacaAGATCGAGACCCGACGC chr2:30103420-Variant-G;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Variant G aagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctga AACCGAATGTGG CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAaaccgaatgtggAGATCGAGACCCGACGC chr2:30103420-Variant-G;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative C aagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctga CAAGTTGTTGCG CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAcaagttgttgcgAGATCGAGACCCGACGC chr2:30103420-Alternative-C;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Variant G aagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctga ACAGCGAACTAA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAacagcgaactaaAGATCGAGACCCGACGC chr2:30103420-Variant-G;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Variant G aagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctga AACGACGAACAT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttGtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAaacgacgaacatAGATCGAGACCCGACGC chr2:30103420-Variant-G;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative T aagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctga AGACGAGTAGAA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAagacgagtagaaAGATCGAGACCCGACGC chr2:30103420-Alternative-T;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative C aagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctga CTTGACATGAGT CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttCtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAActtgacatgagtAGATCGAGACCCGACGC chr2:30103420-Alternative-C;Patient-80 chr2:30103420-AG DeNovo Patient-80 intronic ALK NA 0.000142 -0.42 0.15 -5.47 ALK 41056 Alternative T aagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctga GTCTCGTTGTAA CGACGCGGTCTCTCTCTaagccattgacttagtggctgtcacccacccccacttaagctcctactttTtaagtccccagggatctatggctaggtatatttggattttcagtgctgaAGAGGGAGACGGACGTCTCAATAAgtctcgttgtaaAGATCGAGACCCGACGC chr2:30103420-Alternative-T;Patient-80 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative G gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgc CAAGAGCTAACA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAcaagagctaacaAGATCGAGACCCGACGC chr2:30187160-Alternative-G;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Reference C gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgc ACCTCCGTTGGT CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAacctccgttggtAGATCGAGACCCGACGC chr2:30187160-Reference-C;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Reference C gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgc AAGGACGGTAGT CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAaaggacggtagtAGATCGAGACCCGACGC chr2:30187160-Reference-C;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Variant T gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgc GTCTATTCTACG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAgtctattctacgAGATCGAGACCCGACGC chr2:30187160-Variant-T;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Variant T gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgc AGTTGATGGCTA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAagttgatggctaAGATCGAGACCCGACGC chr2:30187160-Variant-T;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Variant T gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgc GATCCTTGTCGG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAgatccttgtcggAGATCGAGACCCGACGC chr2:30187160-Variant-T;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative A gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgc AATCGTGACAAG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAaatcgtgacaagAGATCGAGACCCGACGC chr2:30187160-Alternative-A;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative G gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgc GACATATTGCGA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAgacatattgcgaAGATCGAGACCCGACGC chr2:30187160-Alternative-G;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Variant T gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgc GGCTAGTCTGGT CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAggctagtctggtAGATCGAGACCCGACGC chr2:30187160-Variant-T;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative A gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgc GACAACGTGCAG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAgacaacgtgcagAGATCGAGACCCGACGC chr2:30187160-Alternative-A;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative A gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgc ATATGTGCACCG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAatatgtgcaccgAGATCGAGACCCGACGC chr2:30187160-Alternative-A;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Variant T gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgc CGGATATCATTC CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaTggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAcggatatcattcAGATCGAGACCCGACGC chr2:30187160-Variant-T;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Reference C gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgc AGTTCAATCACG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAagttcaatcacgAGATCGAGACCCGACGC chr2:30187160-Reference-C;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Reference C gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgc AGTACGCTTCTA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAagtacgcttctaAGATCGAGACCCGACGC chr2:30187160-Reference-C;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative G gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgc CTATTGGTGCGG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAActattggtgcggAGATCGAGACCCGACGC chr2:30187160-Alternative-G;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative G gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgc CGTACATTACGA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAcgtacattacgaAGATCGAGACCCGACGC chr2:30187160-Alternative-G;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative G gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgc GGTCAATTCCAA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaGggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAggtcaattccaaAGATCGAGACCCGACGC chr2:30187160-Alternative-G;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative A gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgc CGCAAGATCAAG CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAcgcaagatcaagAGATCGAGACCCGACGC chr2:30187160-Alternative-A;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Alternative A gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgc CGCTACGCTTGT CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaAggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAcgctacgcttgtAGATCGAGACCCGACGC chr2:30187160-Alternative-A;Patient-42 chr2:30187160-CT DeNovo Patient-42 intergenic 0.000797 0.001 -0.34 0.28 -5.98 ALK 42682 Reference C gtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgc AATGAGGCGATA CGACGCGGTCTCTCTCTgtgcagagatggcagctccaagcagcaactgcttctccagcctcctgtcaCggggctgctctcctccctcctgacacccccaggactgagcccactatgcAGAGGGAGACGGACGTCTCAATAAaatgaggcgataAGATCGAGACCCGACGC chr2:30187160-Reference-C;Patient-42 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative T aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggact GCGGATGGTAGA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAgcggatggtagaAGATCGAGACCCGACGC chr2:30590634-Alternative-T;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Reference G aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggact GGTATGAAGACT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAggtatgaagactAGATCGAGACCCGACGC chr2:30590634-Reference-G;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Reference G aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggact CGTATATCCAAG CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAcgtatatccaagAGATCGAGACCCGACGC chr2:30590634-Reference-G;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Reference G aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggact CAGTTGTTCGAA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAcagttgttcgaaAGATCGAGACCCGACGC chr2:30590634-Reference-G;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Reference G aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggact CGTGCTTCGAAT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAcgtgcttcgaatAGATCGAGACCCGACGC chr2:30590634-Reference-G;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative T aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggact CTTGTTCATGCA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAActtgttcatgcaAGATCGAGACCCGACGC chr2:30590634-Alternative-T;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative T aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggact GCATAAGCCAAT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAgcataagccaatAGATCGAGACCCGACGC chr2:30590634-Alternative-T;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Variant A aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggact GTAAGCCGAACC CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAgtaagccgaaccAGATCGAGACCCGACGC chr2:30590634-Variant-A;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative T aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggact GGTAGGTGTACG CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAggtaggtgtacgAGATCGAGACCCGACGC chr2:30590634-Alternative-T;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Reference G aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggact GGATAATCTGCT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcGgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAggataatctgctAGATCGAGACCCGACGC chr2:30590634-Reference-G;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Variant A aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggact GGTTGCGTGAGA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAggttgcgtgagaAGATCGAGACCCGACGC chr2:30590634-Variant-A;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Variant A aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggact CTCTTGACCGTT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAActcttgaccgttAGATCGAGACCCGACGC chr2:30590634-Variant-A;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative T aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggact ACGCAACGCGAA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcTgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAacgcaacgcgaaAGATCGAGACCCGACGC chr2:30590634-Alternative-T;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Variant A aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggact AAGATCGTTCAC CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAaagatcgttcacAGATCGAGACCCGACGC chr2:30590634-Variant-A;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Variant A aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggact CGACAGGTGGAT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcAgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAcgacaggtggatAGATCGAGACCCGACGC chr2:30590634-Variant-A;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative C aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggact ACCGATGGACGA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAaccgatggacgaAGATCGAGACCCGACGC chr2:30590634-Alternative-C;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative C aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggact AGTCGTCGTGCA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAagtcgtcgtgcaAGATCGAGACCCGACGC chr2:30590634-Alternative-C;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative C aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggact GCCGATGTTAGA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAgccgatgttagaAGATCGAGACCCGACGC chr2:30590634-Alternative-C;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative C aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggact GGATAGCGTCCA CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAAggatagcgtccaAGATCGAGACCCGACGC chr2:30590634-Alternative-C;Patient-93 chr2:30590634-GA DeNovo Patient-93 intergenic NA 0.000513 -0.47 0.11 -6.62 LCLAT1 79488 Alternative C aagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggact CTGCGTATCATT CGACGCGGTCTCTCTCTaagtgcccaggtgtcctggctctcaatccctaacctgcaagggaatgggcCgggctgtttctattccccctctgcaccccagattctggtgggaaggactAGAGGGAGACGGACGTCTCAATAActgcgtatcattAGATCGAGACCCGACGC chr2:30590634-Alternative-C;Patient-93 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative A tacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt CATCTCGCTTAA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAcatctcgcttaaAGATCGAGACCCGACGC chr2:308908-Alternative-A;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative G tacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt CGACGAAGCTGA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAcgacgaagctgaAGATCGAGACCCGACGC chr2:308908-Alternative-G;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative A tacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt AGTTCTGAGGTT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAagttctgaggttAGATCGAGACCCGACGC chr2:308908-Alternative-A;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative A tacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt CTGCTTGCAATT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAActgcttgcaattAGATCGAGACCCGACGC chr2:308908-Alternative-A;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Variant T tacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GATCAGGTCACT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgatcaggtcactAGATCGAGACCCGACGC chr2:308908-Variant-T;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Variant T tacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCGACTGCGTAA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcgactgcgtaaAGATCGAGACCCGACGC chr2:308908-Variant-T;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Variant T tacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCATAGGTTATC CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcataggttatcAGATCGAGACCCGACGC chr2:308908-Variant-T;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative G tacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt AACCATGAGTCT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAaaccatgagtctAGATCGAGACCCGACGC chr2:308908-Alternative-G;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Variant T tacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt CAGGCGACTAGT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAcaggcgactagtAGATCGAGACCCGACGC chr2:308908-Variant-T;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative A tacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCAGCTTCTGAG CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcagcttctgagAGATCGAGACCCGACGC chr2:308908-Alternative-A;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative G tacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GTACGCAAGATT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgtacgcaagattAGATCGAGACCCGACGC chr2:308908-Alternative-G;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative A tacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCAACTGCGTTC CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagAgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcaactgcgttcAGATCGAGACCCGACGC chr2:308908-Alternative-A;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative G tacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCGTGATTATCA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcgtgattatcaAGATCGAGACCCGACGC chr2:308908-Alternative-G;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Variant T tacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GAGCTAATGAGT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagTgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgagctaatgagtAGATCGAGACCCGACGC chr2:308908-Variant-T;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Reference C tacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt ACAGGTCTTGAT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAacaggtcttgatAGATCGAGACCCGACGC chr2:308908-Reference-C;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Alternative G tacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GGTTGACTCGCA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagGgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAggttgactcgcaAGATCGAGACCCGACGC chr2:308908-Alternative-G;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Reference C tacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GCGATTAATGCT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgcgattaatgctAGATCGAGACCCGACGC chr2:308908-Reference-C;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Reference C tacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt GAGCACGAATCA CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAgagcacgaatcaAGATCGAGACCCGACGC chr2:308908-Reference-C;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Reference C tacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt AGATGATGTGGT CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAAagatgatgtggtAGATCGAGACCCGACGC chr2:308908-Reference-C;Patient-49 chr2:308908-CT Inherited Patient-49 intergenic 0.000148 0.0841 -0.16 0.92 0 ACP1 44038 Reference C tacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgt CTCTACTATCAG CGACGCGGTCTCTCTCTtacacacacagggagcgaggaggccggggtgttaatacacacacagggagCgaggaggccggcgtgttaatacacacacaggtagcgaggaggccggcgtAGAGGGAGACGGACGTCTCAATAActctactatcagAGATCGAGACCCGACGC chr2:308908-Reference-C;Patient-49 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative A aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaac AGATGATCAGCA CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAagatgatcagcaAGATCGAGACCCGACGC chr2:31571733-Alternative-A;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative G aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaac CACAGACTACGG CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcacagactacggAGATCGAGACCCGACGC chr2:31571733-Alternative-G;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative A aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaac AATAGCTTACGC CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAaatagcttacgcAGATCGAGACCCGACGC chr2:31571733-Alternative-A;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative A aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaac AGACGAACCAGG CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAagacgaaccaggAGATCGAGACCCGACGC chr2:31571733-Alternative-A;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative A aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaac GCGGCCATAAGT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAgcggccataagtAGATCGAGACCCGACGC chr2:31571733-Alternative-A;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative G aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGATAGCCTACG CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgatagcctacgAGATCGAGACCCGACGC chr2:31571733-Alternative-G;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Reference C aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaac ACTAGCTTCCGG CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAactagcttccggAGATCGAGACCCGACGC chr2:31571733-Reference-C;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Reference C aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGTGTTACGATA CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgtgttacgataAGATCGAGACCCGACGC chr2:31571733-Reference-C;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Reference C aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaac ACAATTGACGCT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAacaattgacgctAGATCGAGACCCGACGC chr2:31571733-Reference-C;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Reference C aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaac GATTGAGAAGCT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAgattgagaagctAGATCGAGACCCGACGC chr2:31571733-Reference-C;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative A aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGCGATATATGG CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagAggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgcgatatatggAGATCGAGACCCGACGC chr2:31571733-Alternative-A;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Reference C aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaac AACTACGGAGAA CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagCggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAaactacggagaaAGATCGAGACCCGACGC chr2:31571733-Reference-C;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative G aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaac GTAGCTTACGGC CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAgtagcttacggcAGATCGAGACCCGACGC chr2:31571733-Alternative-G;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Variant T aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaac AGGAGAACGCGT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAaggagaacgcgtAGATCGAGACCCGACGC chr2:31571733-Variant-T;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative G aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGTACACCTCGA CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgtacacctcgaAGATCGAGACCCGACGC chr2:31571733-Alternative-G;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Variant T aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaac GACCTACTCGCT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAgacctactcgctAGATCGAGACCCGACGC chr2:31571733-Variant-T;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Alternative G aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGAGTCGATGAA CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagGggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgagtcgatgaaAGATCGAGACCCGACGC chr2:31571733-Alternative-G;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Variant T aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaac ATTATGTCCGCT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAattatgtccgctAGATCGAGACCCGACGC chr2:31571733-Variant-T;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Variant T aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaac CGATTGACTAAC CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAcgattgactaacAGATCGAGACCCGACGC chr2:31571733-Variant-T;Patient-27 chr2:31571733-CT DeNovo Patient-27 intronic XDH 2.5e-05 9.72e-05 -0.08 1.62 -3.57 XDH 65877 Variant T aatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaac AGGCCGCATGTT CGACGCGGTCTCTCTCTaatttcccttgcaatactgtaaacaacagggaaatggggtcccagtccagTggagatggacacaattctataaagcaattacctgattcagaaaaggaacAGAGGGAGACGGACGTCTCAATAAaggccgcatgttAGATCGAGACCCGACGC chr2:31571733-Variant-T;Patient-27 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Variant G gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt ACAGATCGCCTA CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAacagatcgcctaAGATCGAGACCCGACGC chr2:32335143-Variant-G;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Variant G gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AAGTGGCGGTCT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAaagtggcggtctAGATCGAGACCCGACGC chr2:32335143-Variant-G;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative T gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GGATCGGTTCAC CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAggatcggttcacAGATCGAGACCCGACGC chr2:32335143-Alternative-T;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative T gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AAGATGCGTAGA CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAaagatgcgtagaAGATCGAGACCCGACGC chr2:32335143-Alternative-T;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative T gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AGAGTCTGACTT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAagagtctgacttAGATCGAGACCCGACGC chr2:32335143-Alternative-T;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative T gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt ATCATGGACCGG CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAatcatggaccggAGATCGAGACCCGACGC chr2:32335143-Alternative-T;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative C gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AATAGGAGGTTC CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAaataggaggttcAGATCGAGACCCGACGC chr2:32335143-Alternative-C;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative T gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GCACGGATGTTC CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtTtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgcacggatgttcAGATCGAGACCCGACGC chr2:32335143-Alternative-T;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative C gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GGTGTCGCTAGT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAggtgtcgctagtAGATCGAGACCCGACGC chr2:32335143-Alternative-C;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Variant G gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt CTCTAAGTTCAC CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAActctaagttcacAGATCGAGACCCGACGC chr2:32335143-Variant-G;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative C gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AAGTTGATCGTC CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAaagttgatcgtcAGATCGAGACCCGACGC chr2:32335143-Alternative-C;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Reference A gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AAGGTAACACGA CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAaaggtaacacgaAGATCGAGACCCGACGC chr2:32335143-Reference-A;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Variant G gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt AGATTGTCAGCT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAagattgtcagctAGATCGAGACCCGACGC chr2:32335143-Variant-G;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative C gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GCCGTGAAGGTT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgccgtgaaggttAGATCGAGACCCGACGC chr2:32335143-Alternative-C;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Alternative C gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GCCAATAAGACA CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtCtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgccaataagacaAGATCGAGACCCGACGC chr2:32335143-Alternative-C;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Variant G gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt ACCTATCTCGCG CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtGtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAacctatctcgcgAGATCGAGACCCGACGC chr2:32335143-Variant-G;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Reference A gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GACCAATTGCTT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgaccaattgcttAGATCGAGACCCGACGC chr2:32335143-Reference-A;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Reference A gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt CTCTTGTCGTGG CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAActcttgtcgtggAGATCGAGACCCGACGC chr2:32335143-Reference-A;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Reference A gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GCATCGTTCATA CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgcatcgttcataAGATCGAGACCCGACGC chr2:32335143-Reference-A;Patient-88 chr2:32335143-AG DeNovo Patient-88 intronic SPAST 0.000218 4.95e-05 -0.11 1.3 0 SPAST 46462 Reference A gctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgtttttt GCGTGCAGTTGT CGACGCGGTCTCTCTCTgctgtaaatgtatatataaactatatgtatacagttatatatgtatttgtAtatgtgtgtatacatatatagttttttttgttttttttttttgttttttAGAGGGAGACGGACGTCTCAATAAgcgtgcagttgtAGATCGAGACCCGACGC chr2:32335143-Reference-A;Patient-88 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Variant T aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CTCATTAGCCTA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAActcattagcctaAGATCGAGACCCGACGC chr2:33206880-Variant-T;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Variant T aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GCAACGAGTAAT CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgcaacgagtaatAGATCGAGACCCGACGC chr2:33206880-Variant-T;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative G aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc ATCTCAGTACGA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAatctcagtacgaAGATCGAGACCCGACGC chr2:33206880-Alternative-G;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Variant T aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CAGCATTGTCGG CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAcagcattgtcggAGATCGAGACCCGACGC chr2:33206880-Variant-T;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative A aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CGGTAGCAGCAT CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAcggtagcagcatAGATCGAGACCCGACGC chr2:33206880-Alternative-A;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Reference C aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CGTTGCTTGTGC CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAcgttgcttgtgcAGATCGAGACCCGACGC chr2:33206880-Reference-C;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative G aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GCGGTGATAGCA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgcggtgatagcaAGATCGAGACCCGACGC chr2:33206880-Alternative-G;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative A aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GGCGTAATTAGT CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAggcgtaattagtAGATCGAGACCCGACGC chr2:33206880-Alternative-A;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Variant T aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CTGGTCACGACT CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAActggtcacgactAGATCGAGACCCGACGC chr2:33206880-Variant-T;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative A aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GCGCTACGTGAA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgcgctacgtgaaAGATCGAGACCCGACGC chr2:33206880-Alternative-A;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Reference C aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GTTACCGCAAGA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgttaccgcaagaAGATCGAGACCCGACGC chr2:33206880-Reference-C;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Reference C aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GACCGGTGACTT CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgaccggtgacttAGATCGAGACCCGACGC chr2:33206880-Reference-C;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative A aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GTGTTAGTGCGC CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgtgttagtgcgcAGATCGAGACCCGACGC chr2:33206880-Alternative-A;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative A aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GATTGCTGAATC CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgAtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgattgctgaatcAGATCGAGACCCGACGC chr2:33206880-Alternative-A;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Reference C aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc ATATAGCGAGCA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAatatagcgagcaAGATCGAGACCCGACGC chr2:33206880-Reference-C;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Reference C aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc AACGCTATGCTA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgCtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAaacgctatgctaAGATCGAGACCCGACGC chr2:33206880-Reference-C;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative G aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc GTAAGCGGTGCA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAgtaagcggtgcaAGATCGAGACCCGACGC chr2:33206880-Alternative-G;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Variant T aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc CTCTCGTTGACG CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgTtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAActctcgttgacgAGATCGAGACCCGACGC chr2:33206880-Variant-T;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative G aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc AGGCGGTTACGA CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAaggcggttacgaAGATCGAGACCCGACGC chr2:33206880-Alternative-G;Patient-6 chr2:33206880-CT DeNovo Patient-6 intronic LTBP1 NA 4.95e-05 0.05 3.47 0.23 LTBP1 34510 Alternative G aagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctc ACTATCGCGACC CGACGCGGTCTCTCTCTaagtctcacaagatctgatggttttagaaagggaagttcctctgcacatgGtttcatgcctgctgccatgtaagacgtgcttttgctcctcctttgcctcAGAGGGAGACGGACGTCTCAATAAactatcgcgaccAGATCGAGACCCGACGC chr2:33206880-Alternative-G;Patient-6 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative T ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattga ACGTGATCCTGG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAacgtgatcctggAGATCGAGACCCGACGC chr2:33728646-Alternative-T;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Variant G ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattga GGATAGCGGTAA CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAggatagcggtaaAGATCGAGACCCGACGC chr2:33728646-Variant-G;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Reference A ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattga CTCGTACGTTCG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAActcgtacgttcgAGATCGAGACCCGACGC chr2:33728646-Reference-A;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Variant G ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattga ACTCTGCCACAG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAactctgccacagAGATCGAGACCCGACGC chr2:33728646-Variant-G;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative T ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattga CACGTGTACAAT CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAcacgtgtacaatAGATCGAGACCCGACGC chr2:33728646-Alternative-T;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative T ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattga GGTAACGCTAAC CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAggtaacgctaacAGATCGAGACCCGACGC chr2:33728646-Alternative-T;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Reference A ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattga AACAGCTTAGCG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAaacagcttagcgAGATCGAGACCCGACGC chr2:33728646-Reference-A;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative C ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattga GATAGCTCGGAG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAgatagctcggagAGATCGAGACCCGACGC chr2:33728646-Alternative-C;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Variant G ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattga CTTGCTATCCGC CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAActtgctatccgcAGATCGAGACCCGACGC chr2:33728646-Variant-G;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative T ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattga CGGTAGACGCAA CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAcggtagacgcaaAGATCGAGACCCGACGC chr2:33728646-Alternative-T;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Variant G ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattga ACCTTCGGAACG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAaccttcggaacgAGATCGAGACCCGACGC chr2:33728646-Variant-G;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative T ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattga AGCCGGTTGACA CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatTattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAagccggttgacaAGATCGAGACCCGACGC chr2:33728646-Alternative-T;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Variant G ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattga GAGCTAGGCTGA CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatGattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAgagctaggctgaAGATCGAGACCCGACGC chr2:33728646-Variant-G;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Reference A ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattga CGAATAGTCTAC CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAcgaatagtctacAGATCGAGACCCGACGC chr2:33728646-Reference-A;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Reference A ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattga ATCCTATGCCAT CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAatcctatgccatAGATCGAGACCCGACGC chr2:33728646-Reference-A;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative C ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattga GATACAATGTGG CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAgatacaatgtggAGATCGAGACCCGACGC chr2:33728646-Alternative-C;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative C ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattga CTCTAACAACCT CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAActctaacaacctAGATCGAGACCCGACGC chr2:33728646-Alternative-C;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative C ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattga AACCGAGTTATC CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAaaccgagttatcAGATCGAGACCCGACGC chr2:33728646-Alternative-C;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Reference A ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattga ACAGCAACCGAA CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatAattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAacagcaaccgaaAGATCGAGACCCGACGC chr2:33728646-Reference-A;Patient-24 chr2:33728646-AG DeNovo Patient-24 intronic RASGRP3 NA 0.00016 1.51 15.85 2.61 RASGRP3 67229 Alternative C ttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattga CATCGTGCGTGT CGACGCGGTCTCTCTCTttctaattatgggcctcaagctgtgtaactttatttgagagcacagaaatCattttaaacacacttttttttttggttcctgtactttaccgttaattgaAGAGGGAGACGGACGTCTCAATAAcatcgtgcgtgtAGATCGAGACCCGACGC chr2:33728646-Alternative-C;Patient-24 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Reference C taagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GGAACGTGGTAA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAggaacgtggtaaAGATCGAGACCCGACGC chr2:349109-Reference-C;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Reference C taagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg AGGCTTCGGCAT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAaggcttcggcatAGATCGAGACCCGACGC chr2:349109-Reference-C;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Reference C taagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GTCGGCTACGTT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAgtcggctacgttAGATCGAGACCCGACGC chr2:349109-Reference-C;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative A taagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GTGCTAATAAGG CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAgtgctaataaggAGATCGAGACCCGACGC chr2:349109-Alternative-A;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Variant T taagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GATGTGCATCTA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAgatgtgcatctaAGATCGAGACCCGACGC chr2:349109-Variant-T;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Variant T taagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg ACACAGCAACGG CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAacacagcaacggAGATCGAGACCCGACGC chr2:349109-Variant-T;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Reference C taagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg AGTATAGCGCGC CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAagtatagcgcgcAGATCGAGACCCGACGC chr2:349109-Reference-C;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Reference C taagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg AGGCTGTGTCAC CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtCctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAaggctgtgtcacAGATCGAGACCCGACGC chr2:349109-Reference-C;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative A taagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg ATAGGCACGAAT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAataggcacgaatAGATCGAGACCCGACGC chr2:349109-Alternative-A;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative A taagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg CAGGTCGGTGTT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAcaggtcggtgttAGATCGAGACCCGACGC chr2:349109-Alternative-A;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative A taagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg ATAAGCCGGCGT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAataagccggcgtAGATCGAGACCCGACGC chr2:349109-Alternative-A;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Variant T taagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg ACACACATCGCA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAacacacatcgcaAGATCGAGACCCGACGC chr2:349109-Variant-T;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative G taagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg CAACCTAATCGA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAcaacctaatcgaAGATCGAGACCCGACGC chr2:349109-Alternative-G;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative A taagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg CTACGGTGCGAT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtActgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAActacggtgcgatAGATCGAGACCCGACGC chr2:349109-Alternative-A;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative G taagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GTAATCGATCCA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAgtaatcgatccaAGATCGAGACCCGACGC chr2:349109-Alternative-G;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative G taagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GTACGGCTACGT CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAgtacggctacgtAGATCGAGACCCGACGC chr2:349109-Alternative-G;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative G taagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg GGAGGAATGTGG CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAggaggaatgtggAGATCGAGACCCGACGC chr2:349109-Alternative-G;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Alternative G taagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg AGATTCTGGTCA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtGctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAagattctggtcaAGATCGAGACCCGACGC chr2:349109-Alternative-G;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Variant T taagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg AACGTTACTCGA CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAaacgttactcgaAGATCGAGACCCGACGC chr2:349109-Variant-T;Patient-45 chr2:349109-CT DeNovo Patient-45 intergenic NA 0.000513 0.18 5.61 2.04 ACP1 84239 Variant T taagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcgg ACCTAACCGGAG CGACGCGGTCTCTCTCTtaagaatataatagcaattctttttgatgaagactatgttttatttgagtTctgaaggaaggtagaggtggagctagaagagaagtgcagggaagagcggAGAGGGAGACGGACGTCTCAATAAacctaaccggagAGATCGAGACCCGACGC chr2:349109-Variant-T;Patient-45 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative T agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaa GCGGCAATACGA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAgcggcaatacgaAGATCGAGACCCGACGC chr2:3583037-Alternative-T;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative T agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaa AGTAAGCGCGAG CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAagtaagcgcgagAGATCGAGACCCGACGC chr2:3583037-Alternative-T;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative T agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaa CGTCACACCTTC CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcgtcacaccttcAGATCGAGACCCGACGC chr2:3583037-Alternative-T;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Reference G agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaa AACTCATACGGT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAaactcatacggtAGATCGAGACCCGACGC chr2:3583037-Reference-G;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Reference G agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaa GCGGCTGTAGAA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAgcggctgtagaaAGATCGAGACCCGACGC chr2:3583037-Reference-G;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Reference G agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaa GCATCGGATGAA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAgcatcggatgaaAGATCGAGACCCGACGC chr2:3583037-Reference-G;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Variant A agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaa CAAGGTTAGTAC CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcaaggttagtacAGATCGAGACCCGACGC chr2:3583037-Variant-A;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative T agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaa AGGACCTAAGGT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAaggacctaaggtAGATCGAGACCCGACGC chr2:3583037-Alternative-T;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Variant A agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaa CGTGAGGTTATC CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcgtgaggttatcAGATCGAGACCCGACGC chr2:3583037-Variant-A;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative C agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaa AGGAACAACCTA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAaggaacaacctaAGATCGAGACCCGACGC chr2:3583037-Alternative-C;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Reference G agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaa CTCTTAACAGGT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAActcttaacaggtAGATCGAGACCCGACGC chr2:3583037-Reference-G;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative T agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaa CGCAATCCGCTT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaTgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcgcaatccgcttAGATCGAGACCCGACGC chr2:3583037-Alternative-T;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Reference G agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaa GTCCGCCTAACA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaGgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAgtccgcctaacaAGATCGAGACCCGACGC chr2:3583037-Reference-G;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Variant A agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaa CGACGGTCATGT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcgacggtcatgtAGATCGAGACCCGACGC chr2:3583037-Variant-A;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Variant A agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaa GCAACTCCTTCG CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAgcaactccttcgAGATCGAGACCCGACGC chr2:3583037-Variant-A;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative C agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaa AGGTAGCATCGT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAaggtagcatcgtAGATCGAGACCCGACGC chr2:3583037-Alternative-C;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative C agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaa AGATATCCGAAC CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAagatatccgaacAGATCGAGACCCGACGC chr2:3583037-Alternative-C;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative C agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaa ACCTTCCAGTAT CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAaccttccagtatAGATCGAGACCCGACGC chr2:3583037-Alternative-C;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Variant A agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaa CAATAGTGGCGC CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaAgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcaatagtggcgcAGATCGAGACCCGACGC chr2:3583037-Variant-A;Patient-90 chr2:3583037-GA DeNovo Patient-90 intergenic 0.000182 0.000513 -0.02 2.39 0 RPS7 39815 Alternative C agcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaa CGTCACAGATCA CGACGCGGTCTCTCTCTagcctgcgtgacagagtgagactatcctgtctaaaaaaaaaaaaaaaaaaCgttaagatgttaactttatgttatgtatattttaccataattttagaaaAGAGGGAGACGGACGTCTCAATAAcgtcacagatcaAGATCGAGACCCGACGC chr2:3583037-Alternative-C;Patient-90 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Variant G cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca ACGTATGCTGTT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAacgtatgctgttAGATCGAGACCCGACGC chr2:36870524-Variant-G;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Variant G cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca AACGCATGATCA CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAaacgcatgatcaAGATCGAGACCCGACGC chr2:36870524-Variant-G;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative T cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GGATCTCGAAGG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAggatctcgaaggAGATCGAGACCCGACGC chr2:36870524-Alternative-T;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Variant G cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca AACGGCGGCAAT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAaacggcggcaatAGATCGAGACCCGACGC chr2:36870524-Variant-G;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative T cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GACGTTCGATGC CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgacgttcgatgcAGATCGAGACCCGACGC chr2:36870524-Alternative-T;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative T cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GCGGCATTAAGG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgcggcattaaggAGATCGAGACCCGACGC chr2:36870524-Alternative-T;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative T cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GTTGACTGGATT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgttgactggattAGATCGAGACCCGACGC chr2:36870524-Alternative-T;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative A cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CTCTCTTGGTGG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAActctcttggtggAGATCGAGACCCGACGC chr2:36870524-Alternative-A;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Variant G cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GGCTAATAGACT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAggctaatagactAGATCGAGACCCGACGC chr2:36870524-Variant-G;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Variant G cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GAGCTGTCATCG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccGagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgagctgtcatcgAGATCGAGACCCGACGC chr2:36870524-Variant-G;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative A cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CGCTGAACGCTA CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAcgctgaacgctaAGATCGAGACCCGACGC chr2:36870524-Alternative-A;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative A cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GCGTACTCAATA CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgcgtactcaataAGATCGAGACCCGACGC chr2:36870524-Alternative-A;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative T cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca AGCAGTAGTCGG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccTagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAagcagtagtcggAGATCGAGACCCGACGC chr2:36870524-Alternative-T;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative A cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CGTTCTTACGCG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAcgttcttacgcgAGATCGAGACCCGACGC chr2:36870524-Alternative-A;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Reference C cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca GAATCGACCATT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAgaatcgaccattAGATCGAGACCCGACGC chr2:36870524-Reference-C;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Alternative A cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CAGAGCGATCCT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccAagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAcagagcgatcctAGATCGAGACCCGACGC chr2:36870524-Alternative-A;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Reference C cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CTGAATTGGCGC CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAActgaattggcgcAGATCGAGACCCGACGC chr2:36870524-Reference-C;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Reference C cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CGGTACTGCGAT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAAcggtactgcgatAGATCGAGACCCGACGC chr2:36870524-Reference-C;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Reference C cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CTCTTCGTTCAT CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAActcttcgttcatAGATCGAGACCCGACGC chr2:36870524-Reference-C;Patient-55 chr2:36870524-CG Inherited Patient-55 intergenic 0.000351 0.000513 -0.01 2.51 0 FEZ2 45191 Reference C cagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatca CTAGTGGTGGAG CGACGCGGTCTCTCTCTcagaaatagaaaaaaacaatcctaaaatgtatatgaaagcataaaagaccCagactagacaaagctatcctgagttaaaagaacaaaactggaggaatcaAGAGGGAGACGGACGTCTCAATAActagtggtggagAGATCGAGACCCGACGC chr2:36870524-Reference-C;Patient-55 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Variant G tggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GGACAGTTACGG CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAggacagttacggAGATCGAGACCCGACGC chr2:37540470-Variant-G;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative A tggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag ATAAGGCTACCT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAataaggctacctAGATCGAGACCCGACGC chr2:37540470-Alternative-A;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Variant G tggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GGTCGAAGACGT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAggtcgaagacgtAGATCGAGACCCGACGC chr2:37540470-Variant-G;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Variant G tggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GCGACGTTGCTA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAgcgacgttgctaAGATCGAGACCCGACGC chr2:37540470-Variant-G;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative T tggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CGATAGAACGAG CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAcgatagaacgagAGATCGAGACCCGACGC chr2:37540470-Alternative-T;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative T tggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag ACATCGTGCGAC CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAacatcgtgcgacAGATCGAGACCCGACGC chr2:37540470-Alternative-T;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Variant G tggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GTAGTATAACGG CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAgtagtataacggAGATCGAGACCCGACGC chr2:37540470-Variant-G;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Variant G tggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GACCACGCGTAT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagGggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAgaccacgcgtatAGATCGAGACCCGACGC chr2:37540470-Variant-G;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Reference C tggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag ATAGCCTGACTA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAatagcctgactaAGATCGAGACCCGACGC chr2:37540470-Reference-C;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative T tggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag ATCTGACGCTAA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAatctgacgctaaAGATCGAGACCCGACGC chr2:37540470-Alternative-T;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative A tggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GGTTGAGCAACG CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAggttgagcaacgAGATCGAGACCCGACGC chr2:37540470-Alternative-A;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Reference C tggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CTGTCGACGTTC CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAActgtcgacgttcAGATCGAGACCCGACGC chr2:37540470-Reference-C;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative A tggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag GTGTTAGATGCT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAgtgttagatgctAGATCGAGACCCGACGC chr2:37540470-Alternative-A;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Reference C tggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag ACATCGGAAGTT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAacatcggaagttAGATCGAGACCCGACGC chr2:37540470-Reference-C;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative T tggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CTGAGACAGTAA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAActgagacagtaaAGATCGAGACCCGACGC chr2:37540470-Alternative-T;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Reference C tggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CGCTACAACAAC CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAcgctacaacaacAGATCGAGACCCGACGC chr2:37540470-Reference-C;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative A tggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CGTGTCACGTGA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAcgtgtcacgtgaAGATCGAGACCCGACGC chr2:37540470-Alternative-A;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative A tggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CTCAATTCGCTA CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagAggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAActcaattcgctaAGATCGAGACCCGACGC chr2:37540470-Alternative-A;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Reference C tggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CGCCATGCGTAT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagCggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAcgccatgcgtatAGATCGAGACCCGACGC chr2:37540470-Reference-C;Patient-43 chr2:37540470-CG DeNovo Patient-43 intronic PRKD3 NA 4.95e-05 -0.34 0.27 -0.93 PRKD3 3751 Alternative T tggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcag CGTCGGTATGGT CGACGCGGTCTCTCTCTtggtgggccagattcggcttatggatacagattgctgacccctgcattagTggaattgatgaaaaaaaaaaaaactgtaaagagtataattaaccagcagAGAGGGAGACGGACGTCTCAATAAcgtcggtatggtAGATCGAGACCCGACGC chr2:37540470-Alternative-T;Patient-43 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative G ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa CTATCCGCGCTT CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAActatccgcgcttAGATCGAGACCCGACGC chr2:38935423-Alternative-G;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative G ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GACGTACGACGA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgacgtacgacgaAGATCGAGACCCGACGC chr2:38935423-Alternative-G;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative G ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa ACAACCAACCGG CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAacaaccaaccggAGATCGAGACCCGACGC chr2:38935423-Alternative-G;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Reference C ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GAGTACTTGCGG CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgagtacttgcggAGATCGAGACCCGACGC chr2:38935423-Reference-C;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative G ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GTTAGATACCAC CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgttagataccacAGATCGAGACCCGACGC chr2:38935423-Alternative-G;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative G ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa CACGACTGTCAA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaGagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAcacgactgtcaaAGATCGAGACCCGACGC chr2:38935423-Alternative-G;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative T ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GGATGGTAAGCA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAggatggtaagcaAGATCGAGACCCGACGC chr2:38935423-Alternative-T;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative T ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa AGCGCGAAGTCA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAagcgcgaagtcaAGATCGAGACCCGACGC chr2:38935423-Alternative-T;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Variant A ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa CGTTCTTCTTGT CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAcgttcttcttgtAGATCGAGACCCGACGC chr2:38935423-Variant-A;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Variant A ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GCGAACTGGTAC CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgcgaactggtacAGATCGAGACCCGACGC chr2:38935423-Variant-A;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative T ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GTTCCGTAGATT CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgttccgtagattAGATCGAGACCCGACGC chr2:38935423-Alternative-T;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Variant A ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GGACAGCGGTTA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAggacagcggttaAGATCGAGACCCGACGC chr2:38935423-Variant-A;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative T ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GTCTCCATTCTT CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgtctccattcttAGATCGAGACCCGACGC chr2:38935423-Alternative-T;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Alternative T ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GCAGCAACTGCT CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaTagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgcagcaactgctAGATCGAGACCCGACGC chr2:38935423-Alternative-T;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Variant A ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa CGTAAGCGATAA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAcgtaagcgataaAGATCGAGACCCGACGC chr2:38935423-Variant-A;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Reference C ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa CATCGCGTACCA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAcatcgcgtaccaAGATCGAGACCCGACGC chr2:38935423-Reference-C;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Variant A ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GCGTATGAGGAC CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaAagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgcgtatgaggacAGATCGAGACCCGACGC chr2:38935423-Variant-A;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Reference C ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa GATTGGTCATAC CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAgattggtcatacAGATCGAGACCCGACGC chr2:38935423-Reference-C;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Reference C ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa ATCGGAGGTACG CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAatcggaggtacgAGATCGAGACCCGACGC chr2:38935423-Reference-C;Patient-89 chr2:38935423-CA Inherited Patient-89 intronic GALM NA 4.95e-05 -0.11 1.31 0.31 GALM 42370 Reference C ctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaa AGATACCAACGA CGACGCGGTCTCTCTCTctaggggctacagtgagctgtgatcacgccactgcactccagctgggtgaCagagcaagaccctgtctctaaaaaaataaaaataataaaaataaataaaAGAGGGAGACGGACGTCTCAATAAagataccaacgaAGATCGAGACCCGACGC chr2:38935423-Reference-C;Patient-89 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Reference G acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CGGAATACGCGT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcggaatacgcgtAGATCGAGACCCGACGC chr2:39316594-Reference-G;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Variant A acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc AGCATTCTCGAA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAagcattctcgaaAGATCGAGACCCGACGC chr2:39316594-Variant-A;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Variant A acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc ACTCTAGGCGTC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAactctaggcgtcAGATCGAGACCCGACGC chr2:39316594-Variant-A;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Variant A acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CGTAGAGTCCGA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcgtagagtccgaAGATCGAGACCCGACGC chr2:39316594-Variant-A;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Variant A acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc GAGATAGGATGA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAgagataggatgaAGATCGAGACCCGACGC chr2:39316594-Variant-A;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Variant A acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc GCATCGCTCTGT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaAcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAgcatcgctctgtAGATCGAGACCCGACGC chr2:39316594-Variant-A;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative C acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc GTATACACAGCT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAgtatacacagctAGATCGAGACCCGACGC chr2:39316594-Alternative-C;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative C acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc ATAGATCCTGCA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAatagatcctgcaAGATCGAGACCCGACGC chr2:39316594-Alternative-C;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative C acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc AACGTCCGGTTC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAaacgtccggttcAGATCGAGACCCGACGC chr2:39316594-Alternative-C;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative C acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CTCTGACGTCAC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAActctgacgtcacAGATCGAGACCCGACGC chr2:39316594-Alternative-C;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative T acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc GGACCATCACGT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAggaccatcacgtAGATCGAGACCCGACGC chr2:39316594-Alternative-T;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative C acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc GAGTTGTGGTAC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaCcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAgagttgtggtacAGATCGAGACCCGACGC chr2:39316594-Alternative-C;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Reference G acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CAGTTATGGTGT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcagttatggtgtAGATCGAGACCCGACGC chr2:39316594-Reference-G;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative T acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CGGCGTGTGATA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcggcgtgtgataAGATCGAGACCCGACGC chr2:39316594-Alternative-T;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative T acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CGATATCGGCGT CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcgatatcggcgtAGATCGAGACCCGACGC chr2:39316594-Alternative-T;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Reference G acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc AATAGTCGGAAC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAaatagtcggaacAGATCGAGACCCGACGC chr2:39316594-Reference-G;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative T acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CGTAGTCAAGCG CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAcgtagtcaagcgAGATCGAGACCCGACGC chr2:39316594-Alternative-T;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Reference G acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc AATAGCGAGTCA CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAaatagcgagtcaAGATCGAGACCCGACGC chr2:39316594-Reference-G;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Alternative T acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc CTTACCTCAACC CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaTcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAActtacctcaaccAGATCGAGACCCGACGC chr2:39316594-Alternative-T;Patient-44 chr2:39316594-GA DeNovo Patient-44 intronic SOS1 0.000782 0.000198 -0.24 0.53 -0.8 SOS1 31009 Reference G acacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagcc AACCAATGCGCG CGACGCGGTCTCTCTCTacacctgtaatcccagctactcgggaggctgaagcatgagaattgcttgaGcctgggaggtggaggttgcagtgagccattgtgccatggcactccagccAGAGGGAGACGGACGTCTCAATAAaaccaatgcgcgAGATCGAGACCCGACGC chr2:39316594-Reference-G;Patient-44 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Reference C tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt AATCTAGGCGGC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAaatctaggcggcAGATCGAGACCCGACGC chr2:42822529-Reference-C;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative G tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CTCTATCGAGAT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAActctatcgagatAGATCGAGACCCGACGC chr2:42822529-Alternative-G;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Variant T tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt ACCACAGCGGAT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAaccacagcggatAGATCGAGACCCGACGC chr2:42822529-Variant-T;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Reference C tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GCGTAGATGCAC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgcgtagatgcacAGATCGAGACCCGACGC chr2:42822529-Reference-C;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Variant T tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GATCGCAACATA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgatcgcaacataAGATCGAGACCCGACGC chr2:42822529-Variant-T;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Variant T tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GATAGCGTGGAC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgatagcgtggacAGATCGAGACCCGACGC chr2:42822529-Variant-T;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Variant T tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CACGTCGCATTC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAcacgtcgcattcAGATCGAGACCCGACGC chr2:42822529-Variant-T;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative G tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CGCGATGTCTAC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAcgcgatgtctacAGATCGAGACCCGACGC chr2:42822529-Alternative-G;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative G tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt ATTCTCGATAGG CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAattctcgataggAGATCGAGACCCGACGC chr2:42822529-Alternative-G;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative G tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GATTCGACCGCA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgattcgaccgcaAGATCGAGACCCGACGC chr2:42822529-Alternative-G;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative A tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CGATCAGCTGAC CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAcgatcagctgacAGATCGAGACCCGACGC chr2:42822529-Alternative-A;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative G tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GCATCGAGAGAT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaGgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgcatcgagagatAGATCGAGACCCGACGC chr2:42822529-Alternative-G;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Variant T tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt ACTTCGTTGGTT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaTgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAacttcgttggttAGATCGAGACCCGACGC chr2:42822529-Variant-T;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative A tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CTCTACGCTCCT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAActctacgctcctAGATCGAGACCCGACGC chr2:42822529-Alternative-A;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative A tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GTATCTGCGATA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgtatctgcgataAGATCGAGACCCGACGC chr2:42822529-Alternative-A;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative A tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CACGAACCGTCA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAcacgaaccgtcaAGATCGAGACCCGACGC chr2:42822529-Alternative-A;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Alternative A tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GTGACGCAACGA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaAgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgtgacgcaacgaAGATCGAGACCCGACGC chr2:42822529-Alternative-A;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Reference C tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt GACGCGGTACTA CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAgacgcggtactaAGATCGAGACCCGACGC chr2:42822529-Reference-C;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Reference C tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt AACCGCTCTCCT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAAaaccgctctcctAGATCGAGACCCGACGC chr2:42822529-Reference-C;Patient-75 chr2:42822529-CT DeNovo Patient-75 intronic MTA3 NA 4.95e-05 -0.02 2.27 0.26 MTA3 26857 Reference C tgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgt CTTAGGATCGAT CGACGCGGTCTCTCTCTtgacctcgtgatctgcctgcctcggcctcccaaagtgctgggattacagaCgtgagccactgtgcccggcatgtttttatatttttaaaaggccacatgtAGAGGGAGACGGACGTCTCAATAActtaggatcgatAGATCGAGACCCGACGC chr2:42822529-Reference-C;Patient-75 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative G tatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattacc ATAGTTCCGACC CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAatagttccgaccAGATCGAGACCCGACGC chr2:42825840-Alternative-G;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative G tatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattacc CGACGCGAAGTT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcgacgcgaagttAGATCGAGACCCGACGC chr2:42825840-Alternative-G;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative G tatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattacc GAGTCAATCGTT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAgagtcaatcgttAGATCGAGACCCGACGC chr2:42825840-Alternative-G;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative T tatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattacc CTGCTCGTGGTT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAActgctcgtggttAGATCGAGACCCGACGC chr2:42825840-Alternative-T;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative G tatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattacc GGTTAACAGGCG CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAggttaacaggcgAGATCGAGACCCGACGC chr2:42825840-Alternative-G;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative T tatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattacc AGATACTTCCGT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAagatacttccgtAGATCGAGACCCGACGC chr2:42825840-Alternative-T;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative T tatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattacc CGAATGTGTTGT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcgaatgtgttgtAGATCGAGACCCGACGC chr2:42825840-Alternative-T;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative G tatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattacc AATACGCGCAAT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagGcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAaatacgcgcaatAGATCGAGACCCGACGC chr2:42825840-Alternative-G;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Reference C tatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattacc GTAACTAGGTTC CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAgtaactaggttcAGATCGAGACCCGACGC chr2:42825840-Reference-C;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Variant A tatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattacc CATTCGTGCATT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcattcgtgcattAGATCGAGACCCGACGC chr2:42825840-Variant-A;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative T tatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattacc CGATCGGCAGTT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcgatcggcagttAGATCGAGACCCGACGC chr2:42825840-Alternative-T;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Reference C tatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattacc GTGCTAAGATGT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAgtgctaagatgtAGATCGAGACCCGACGC chr2:42825840-Reference-C;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Variant A tatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattacc AGCGCAACATCG CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAagcgcaacatcgAGATCGAGACCCGACGC chr2:42825840-Variant-A;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Alternative T tatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattacc AGCCGTGATCCT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagTcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAagccgtgatcctAGATCGAGACCCGACGC chr2:42825840-Alternative-T;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Variant A tatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattacc CGATAGTCGGAG CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcgatagtcggagAGATCGAGACCCGACGC chr2:42825840-Variant-A;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Reference C tatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattacc CGCTTACTCATT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAcgcttactcattAGATCGAGACCCGACGC chr2:42825840-Reference-C;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Reference C tatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattacc AGATCATCACCA CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAagatcatcaccaAGATCGAGACCCGACGC chr2:42825840-Reference-C;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Variant A tatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattacc GGAACACACGCA CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAggaacacacgcaAGATCGAGACCCGACGC chr2:42825840-Variant-A;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Reference C tatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattacc GTTCATGCTAGA CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagCcttaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAgttcatgctagaAGATCGAGACCCGACGC chr2:42825840-Reference-C;Patient-69 chr2:42825840-CA DeNovo Patient-69 intronic MTA3 0.000191 4.95e-05 -0.32 0.33 -2.77 MTA3 30168 Variant A tatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattacc ACTCGGTGAATT CGACGCGGTCTCTCTCTtatgtttgtataatttggcattatggggcagataaattaacgttgttgagActtaattcatctttacaagggactcattaatactttctaccttattaccAGAGGGAGACGGACGTCTCAATAAactcggtgaattAGATCGAGACCCGACGC chr2:42825840-Variant-A;Patient-69 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative C gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CTCTAGGAGATA CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAActctaggagataAGATCGAGACCCGACGC chr2:42835928-Alternative-C;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative C gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat ACGGCATCTGAC CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAacggcatctgacAGATCGAGACCCGACGC chr2:42835928-Alternative-C;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative C gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat AGTCAACAACGA CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAagtcaacaacgaAGATCGAGACCCGACGC chr2:42835928-Alternative-C;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative C gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat AGGACGCAGAAG CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAaggacgcagaagAGATCGAGACCCGACGC chr2:42835928-Alternative-C;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative C gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat ACTCAACCAGCG CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagCcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAactcaaccagcgAGATCGAGACCCGACGC chr2:42835928-Alternative-C;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative A gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat GAGAGTTACACT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAgagagttacactAGATCGAGACCCGACGC chr2:42835928-Alternative-A;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative A gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CTAAGATGTCGT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAActaagatgtcgtAGATCGAGACCCGACGC chr2:42835928-Alternative-A;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative A gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat GAATGACGACTA CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAgaatgacgactaAGATCGAGACCCGACGC chr2:42835928-Alternative-A;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative A gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CATTAGGTAAGG CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAcattaggtaaggAGATCGAGACCCGACGC chr2:42835928-Alternative-A;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Alternative A gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat ACTGCGGACCTT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagAcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAactgcggaccttAGATCGAGACCCGACGC chr2:42835928-Alternative-A;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Variant T gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat AATAGAGCGTAC CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAaatagagcgtacAGATCGAGACCCGACGC chr2:42835928-Variant-T;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Variant T gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat GGTGAACAATGT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAggtgaacaatgtAGATCGAGACCCGACGC chr2:42835928-Variant-T;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Variant T gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CGGATTGGTCGT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAcggattggtcgtAGATCGAGACCCGACGC chr2:42835928-Variant-T;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Variant T gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat ATTCCATACGAG CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAattccatacgagAGATCGAGACCCGACGC chr2:42835928-Variant-T;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Variant T gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat GTCTCTCGTCCT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagTcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAgtctctcgtcctAGATCGAGACCCGACGC chr2:42835928-Variant-T;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Reference G gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CAGCTAGACATC CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAcagctagacatcAGATCGAGACCCGACGC chr2:42835928-Reference-G;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Reference G gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CATTGAGGACGG CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAcattgaggacggAGATCGAGACCCGACGC chr2:42835928-Reference-G;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Reference G gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat CGAATTAGTGCT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAcgaattagtgctAGATCGAGACCCGACGC chr2:42835928-Reference-G;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Reference G gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat AACGACCAGTAA CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAaacgaccagtaaAGATCGAGACCCGACGC chr2:42835928-Reference-G;Patient-30 chr2:42835928-GT Inherited Patient-30 intronic MTA3 0.000414 0.000148 NA NA NA MTA3 40256 Reference G gccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagat AGTAACGTGCTT CGACGCGGTCTCTCTCTgccaggtgtggtgatgtacgcctgtaatcacagctactctggaggctaagGcacaagaattgcttgaacctaggtggtggtgtttgcagtgagctgagatAGAGGGAGACGGACGTCTCAATAAagtaacgtgcttAGATCGAGACCCGACGC chr2:42835928-Reference-G;Patient-30 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative G acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct AGTGAGGCGTAT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAagtgaggcgtatAGATCGAGACCCGACGC chr2:42843141-Alternative-G;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative G acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CTCTAACTTGCA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAActctaacttgcaAGATCGAGACCCGACGC chr2:42843141-Alternative-G;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Variant C acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CTGGCATGTGGT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAActggcatgtggtAGATCGAGACCCGACGC chr2:42843141-Variant-C;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative G acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CTGAGAACGGCA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAActgagaacggcaAGATCGAGACCCGACGC chr2:42843141-Alternative-G;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Variant C acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GTACGGTGAACG CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgtacggtgaacgAGATCGAGACCCGACGC chr2:42843141-Variant-C;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Reference T acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GCATAAGGCGAC CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgcataaggcgacAGATCGAGACCCGACGC chr2:42843141-Reference-T;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative G acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CGCATTCCGAAC CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAcgcattccgaacAGATCGAGACCCGACGC chr2:42843141-Alternative-G;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative G acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GAGTACGTGTAA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaGgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgagtacgtgtaaAGATCGAGACCCGACGC chr2:42843141-Alternative-G;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Variant C acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CGCGCTATATTA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAcgcgctatattaAGATCGAGACCCGACGC chr2:42843141-Variant-C;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Reference T acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GATGGAGGTACA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgatggaggtacaAGATCGAGACCCGACGC chr2:42843141-Reference-T;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Variant C acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GATCGATTAGCT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgatcgattagctAGATCGAGACCCGACGC chr2:42843141-Variant-C;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Reference T acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct AGTCCGTGTGGT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAagtccgtgtggtAGATCGAGACCCGACGC chr2:42843141-Reference-T;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Reference T acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GACGAGAGCATC CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgacgagagcatcAGATCGAGACCCGACGC chr2:42843141-Reference-T;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative A acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CGACATATACGG CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAcgacatatacggAGATCGAGACCCGACGC chr2:42843141-Alternative-A;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative A acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct AGCGCAAGATTA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAagcgcaagattaAGATCGAGACCCGACGC chr2:42843141-Alternative-A;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Reference T acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct AGTACCTTGGAT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaTgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAagtaccttggatAGATCGAGACCCGACGC chr2:42843141-Reference-T;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative A acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GGTCTTCATCTA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAggtcttcatctaAGATCGAGACCCGACGC chr2:42843141-Alternative-A;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative A acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CGCAGCTATGGT CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAcgcagctatggtAGATCGAGACCCGACGC chr2:42843141-Alternative-A;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Variant C acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct CGAACGTAACCA CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaCgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAcgaacgtaaccaAGATCGAGACCCGACGC chr2:42843141-Variant-C;Patient-63 chr2:42843141-TC Inherited Patient-63 intronic MTA3 0.000192 4.95e-05 0.07 3.79 0.05 MTA3 47469 Alternative A acctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgct GCAAGATAACAC CGACGCGGTCTCTCTCTacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcaAgagccaccgtgcccggccgtacaggcgtgagccaccgagactggccgctAGAGGGAGACGGACGTCTCAATAAgcaagataacacAGATCGAGACCCGACGC chr2:42843141-Alternative-A;Patient-63 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Reference T cttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GGAGGTCTGTTC CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAggaggtctgttcAGATCGAGACCCGACGC chr2:42956253-Reference-T;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative A cttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc ATCTAGCAGGTT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAatctagcaggttAGATCGAGACCCGACGC chr2:42956253-Alternative-A;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative A cttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GATAGCGGTCAT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgatagcggtcatAGATCGAGACCCGACGC chr2:42956253-Alternative-A;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Reference T cttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc AGCTGAAGTACG CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAagctgaagtacgAGATCGAGACCCGACGC chr2:42956253-Reference-T;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative A cttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc CTAGTGAATCAG CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAActagtgaatcagAGATCGAGACCCGACGC chr2:42956253-Alternative-A;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative G cttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GTATCGCATCAA CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgtatcgcatcaaAGATCGAGACCCGACGC chr2:42956253-Alternative-G;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Reference T cttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc CGGATAGGCGAA CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAcggataggcgaaAGATCGAGACCCGACGC chr2:42956253-Reference-T;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Reference T cttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GTATCTGTAACG CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgtatctgtaacgAGATCGAGACCCGACGC chr2:42956253-Reference-T;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Reference T cttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc AGGAGGATTAAG CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttTcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAaggaggattaagAGATCGAGACCCGACGC chr2:42956253-Reference-T;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative A cttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GGTAGCGGTGTT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAggtagcggtgttAGATCGAGACCCGACGC chr2:42956253-Alternative-A;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative A cttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc CGCGAATACGGT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttAcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAcgcgaatacggtAGATCGAGACCCGACGC chr2:42956253-Alternative-A;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative G cttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc AATACGAGCCGG CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAaatacgagccggAGATCGAGACCCGACGC chr2:42956253-Alternative-G;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Variant C cttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GACCTACGGTAC CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgacctacggtacAGATCGAGACCCGACGC chr2:42956253-Variant-C;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Variant C cttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc CACACGTCACGA CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAcacacgtcacgaAGATCGAGACCCGACGC chr2:42956253-Variant-C;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Variant C cttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GACAGTAGCCGT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgacagtagccgtAGATCGAGACCCGACGC chr2:42956253-Variant-C;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Variant C cttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GTCTATCTCAGT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgtctatctcagtAGATCGAGACCCGACGC chr2:42956253-Variant-C;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Variant C cttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc AAGGCCGAATAA CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttCcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAaaggccgaataaAGATCGAGACCCGACGC chr2:42956253-Variant-C;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative G cttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc AATGTTCGACAC CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAaatgttcgacacAGATCGAGACCCGACGC chr2:42956253-Alternative-G;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative G cttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc CTATACCGTGAA CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAActataccgtgaaAGATCGAGACCCGACGC chr2:42956253-Alternative-G;Patient-69 chr2:42956253-TC DeNovo Patient-69 intergenic NA 6.28e-05 -0.01 2.45 0 HAAO 63497 Alternative G cttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctc GATGCTATCAGT CGACGCGGTCTCTCTCTcttttattagtttcacagtttgagttttttttttttttttttttttttttGcacagagtcatgctctgttgctcaggctggagtgcagtggcacaatctcAGAGGGAGACGGACGTCTCAATAAgatgctatcagtAGATCGAGACCCGACGC chr2:42956253-Alternative-G;Patient-69 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Reference C gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcattttttta AATCGGACTAAC CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAaatcggactaacAGATCGAGACCCGACGC chr2:43079846-Reference-C;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Reference C gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcattttttta CATTGGTAGGTT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAcattggtaggttAGATCGAGACCCGACGC chr2:43079846-Reference-C;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Reference C gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcattttttta GTTAATGTCCGA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAgttaatgtccgaAGATCGAGACCCGACGC chr2:43079846-Reference-C;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Reference C gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcattttttta ACAGCAAGCTAT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAacagcaagctatAGATCGAGACCCGACGC chr2:43079846-Reference-C;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Reference C gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcattttttta AAGGTGCGAATC CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggCgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAaaggtgcgaatcAGATCGAGACCCGACGC chr2:43079846-Reference-C;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative A gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcattttttta CAGTTCCGCCTA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAcagttccgcctaAGATCGAGACCCGACGC chr2:43079846-Alternative-A;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative A gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcattttttta CTGAAGTTGGCG CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAActgaagttggcgAGATCGAGACCCGACGC chr2:43079846-Alternative-A;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative A gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcattttttta CGGATCGAATAA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAcggatcgaataaAGATCGAGACCCGACGC chr2:43079846-Alternative-A;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative A gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcattttttta AGTGTCACTAGT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAagtgtcactagtAGATCGAGACCCGACGC chr2:43079846-Alternative-A;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative A gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcattttttta GGTTCGTCCAGA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggAgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAggttcgtccagaAGATCGAGACCCGACGC chr2:43079846-Alternative-A;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Variant T gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcattttttta GCAAGTTGGACG CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAgcaagttggacgAGATCGAGACCCGACGC chr2:43079846-Variant-T;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Variant T gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcattttttta CTAGACTAATCG CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAActagactaatcgAGATCGAGACCCGACGC chr2:43079846-Variant-T;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Variant T gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcattttttta ACTATTGGTTCG CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAactattggttcgAGATCGAGACCCGACGC chr2:43079846-Variant-T;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Variant T gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcattttttta GGTTCGACTCGA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAggttcgactcgaAGATCGAGACCCGACGC chr2:43079846-Variant-T;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Variant T gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcattttttta ACATCGACTCCT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggTgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAacatcgactcctAGATCGAGACCCGACGC chr2:43079846-Variant-T;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative G gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcattttttta CTGAAGTGACAT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAActgaagtgacatAGATCGAGACCCGACGC chr2:43079846-Alternative-G;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative G gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcattttttta ATACGCTCTAAG CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAatacgctctaagAGATCGAGACCCGACGC chr2:43079846-Alternative-G;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative G gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcattttttta CTACAACGTGTT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAActacaacgtgttAGATCGAGACCCGACGC chr2:43079846-Alternative-G;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative G gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcattttttta CGATCGACGTGT CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAcgatcgacgtgtAGATCGAGACCCGACGC chr2:43079846-Alternative-G;Patient-30 chr2:43079846-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA OXER1 88444 Alternative G gaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcattttttta ACGTCCATTCCA CGACGCGGTCTCTCTCTgaggcctcatgaaaggctgccgcagagagcacaagggcacggcgagggggGgctgcttggatcatggacgctttattatttggaaatcttcatttttttaAGAGGGAGACGGACGTCTCAATAAacgtccattccaAGATCGAGACCCGACGC chr2:43079846-Alternative-G;Patient-30 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Variant C gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggc ATAACTTGTCGG CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAataacttgtcggAGATCGAGACCCGACGC chr2:43080057-Variant-C;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Reference T gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggc CGCTCAATGCTA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAcgctcaatgctaAGATCGAGACCCGACGC chr2:43080057-Reference-T;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative G gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggc AGTAAGCGTCGG CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAagtaagcgtcggAGATCGAGACCCGACGC chr2:43080057-Alternative-G;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative G gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggc GATCAATGGTGT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAgatcaatggtgtAGATCGAGACCCGACGC chr2:43080057-Alternative-G;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative G gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggc GATCCAACTAAC CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAgatccaactaacAGATCGAGACCCGACGC chr2:43080057-Alternative-G;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative A gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggc CTTGTACCTTGA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAActtgtaccttgaAGATCGAGACCCGACGC chr2:43080057-Alternative-A;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative A gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggc GGCTCGATTCCA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAggctcgattccaAGATCGAGACCCGACGC chr2:43080057-Alternative-A;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative G gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggc CGAGTCATTGCG CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAcgagtcattgcgAGATCGAGACCCGACGC chr2:43080057-Alternative-G;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative G gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggc CGAGCCTATTAA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaGgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAcgagcctattaaAGATCGAGACCCGACGC chr2:43080057-Alternative-G;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative A gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggc GGAACTTCCAAT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAggaacttccaatAGATCGAGACCCGACGC chr2:43080057-Alternative-A;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Reference T gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggc ACTCGCTTGTTA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAactcgcttgttaAGATCGAGACCCGACGC chr2:43080057-Reference-T;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Reference T gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggc CGATACGTACCA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAcgatacgtaccaAGATCGAGACCCGACGC chr2:43080057-Reference-T;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative A gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggc AGCTAGCTCGGT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAagctagctcggtAGATCGAGACCCGACGC chr2:43080057-Alternative-A;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Variant C gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggc GTTGACGCAACT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAgttgacgcaactAGATCGAGACCCGACGC chr2:43080057-Variant-C;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Reference T gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggc AGGCAATAACGT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAaggcaataacgtAGATCGAGACCCGACGC chr2:43080057-Reference-T;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Variant C gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggc AAGATTGACGGT CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAaagattgacggtAGATCGAGACCCGACGC chr2:43080057-Variant-C;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Reference T gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggc GCCGATAAGACG CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaTgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAgccgataagacgAGATCGAGACCCGACGC chr2:43080057-Reference-T;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Variant C gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggc CGCACGTTGCTA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAcgcacgttgctaAGATCGAGACCCGACGC chr2:43080057-Variant-C;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Alternative A gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggc CTTGGAAGTGAA CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaAgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAActtggaagtgaaAGATCGAGACCCGACGC chr2:43080057-Alternative-A;Patient-108 chr2:43080057-TC DeNovo Patient-108 intergenic 0.000318 0.002767528 -0.01 2.53 0.8 HAAO 60305 Variant C gaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggc ACTAGTGACAAG CGACGCGGTCTCTCTCTgaccaatggaaatcaagtaccttggaaaggcaacctctttttctgcgccaCgttattggactggcagtggccaggccacatgactgtccagggcttaggcAGAGGGAGACGGACGTCTCAATAAactagtgacaagAGATCGAGACCCGACGC chr2:43080057-Variant-C;Patient-108 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Variant T ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CTTGACTCCGAC CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAActtgactccgacAGATCGAGACCCGACGC chr2:44195891-Variant-T;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Variant T ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagc AGCTCGTGGTGT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAagctcgtggtgtAGATCGAGACCCGACGC chr2:44195891-Variant-T;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Variant T ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagc AGGTATGTTGCT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAaggtatgttgctAGATCGAGACCCGACGC chr2:44195891-Variant-T;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative A ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagc AAGGCCAATCGC CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAaaggccaatcgcAGATCGAGACCCGACGC chr2:44195891-Alternative-A;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Variant T ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CAACGGCCGTAA CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAcaacggccgtaaAGATCGAGACCCGACGC chr2:44195891-Variant-T;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative G ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagc GACTATCGAACC CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAgactatcgaaccAGATCGAGACCCGACGC chr2:44195891-Alternative-G;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Reference C ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagc GGAGAACTACAC CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAggagaactacacAGATCGAGACCCGACGC chr2:44195891-Reference-C;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Reference C ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagc AGGTAGTCATGA CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAaggtagtcatgaAGATCGAGACCCGACGC chr2:44195891-Reference-C;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative A ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagc GATGCGCTTATT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAgatgcgcttattAGATCGAGACCCGACGC chr2:44195891-Alternative-A;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative G ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagc AGGTTCGTAGCG CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAaggttcgtagcgAGATCGAGACCCGACGC chr2:44195891-Alternative-G;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Variant T ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagc GATGGTTATGAG CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaTgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAgatggttatgagAGATCGAGACCCGACGC chr2:44195891-Variant-T;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative G ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CTAATGTTCCGA CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAActaatgttccgaAGATCGAGACCCGACGC chr2:44195891-Alternative-G;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative G ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CAACGGCTGAAC CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAcaacggctgaacAGATCGAGACCCGACGC chr2:44195891-Alternative-G;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative G ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CACTGAGCAACT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaGgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAcactgagcaactAGATCGAGACCCGACGC chr2:44195891-Alternative-G;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative A ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CTCGTCACGAAT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAActcgtcacgaatAGATCGAGACCCGACGC chr2:44195891-Alternative-A;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Reference C ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CGGATTCGCGTT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAcggattcgcgttAGATCGAGACCCGACGC chr2:44195891-Reference-C;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Reference C ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CTAGTCGGCCAA CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAActagtcggccaaAGATCGAGACCCGACGC chr2:44195891-Reference-C;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Reference C ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagc GTACGAGCGAAG CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaCgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAgtacgagcgaagAGATCGAGACCCGACGC chr2:44195891-Reference-C;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative A ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagc ACTCACGTACGG CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAactcacgtacggAGATCGAGACCCGACGC chr2:44195891-Alternative-A;Patient-66 chr2:44195891-CT DeNovo Patient-66 intronic LRPPRC 9.6e-05 4.19e-05 0.09 4.07 0.68 LRPPRC 27252 Alternative A ggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagc CAGATACTCGAT CGACGCGGTCTCTCTCTggacagcagttgccagggactagggtgagggagatattggtcaaagggcaAgaactttctgttaataagatgagtaagttctagggttctaatgtacagcAGAGGGAGACGGACGTCTCAATAAcagatactcgatAGATCGAGACCCGACGC chr2:44195891-Alternative-A;Patient-66 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Reference A gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GATTGTACCTGA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgattgtacctgaAGATCGAGACCCGACGC chr2:44359671-Reference-A;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Reference A gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GTGTTGGACCGT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgtgttggaccgtAGATCGAGACCCGACGC chr2:44359671-Reference-A;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Reference A gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat AATAGGTCGGCG CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAaataggtcggcgAGATCGAGACCCGACGC chr2:44359671-Reference-A;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative G gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GTAGGTTCAACT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgtaggttcaactAGATCGAGACCCGACGC chr2:44359671-Alternative-G;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Reference A gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CAGCTACCGTAA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAcagctaccgtaaAGATCGAGACCCGACGC chr2:44359671-Reference-A;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative T gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CGTTACCATACT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAcgttaccatactAGATCGAGACCCGACGC chr2:44359671-Alternative-T;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Reference A gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CGGCATTACAAC CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagAaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAcggcattacaacAGATCGAGACCCGACGC chr2:44359671-Reference-A;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative T gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GATCGATTCGCG CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgatcgattcgcgAGATCGAGACCCGACGC chr2:44359671-Alternative-T;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Variant C gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GGATAATCTAGG CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAggataatctaggAGATCGAGACCCGACGC chr2:44359671-Variant-C;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative G gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat ACCAACCGTATC CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAaccaaccgtatcAGATCGAGACCCGACGC chr2:44359671-Alternative-G;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative T gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CTATTGTCGTGT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAActattgtcgtgtAGATCGAGACCCGACGC chr2:44359671-Alternative-T;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative G gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GATTGGAGCCTA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgattggagcctaAGATCGAGACCCGACGC chr2:44359671-Alternative-G;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative T gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat AGCGCTGTATCG CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAagcgctgtatcgAGATCGAGACCCGACGC chr2:44359671-Alternative-T;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Variant C gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CAGCGGTCCATA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAcagcggtccataAGATCGAGACCCGACGC chr2:44359671-Variant-C;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative T gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat ACGACGATAACA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagTaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAacgacgataacaAGATCGAGACCCGACGC chr2:44359671-Alternative-T;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Variant C gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GAGTCAATCCGG CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgagtcaatccggAGATCGAGACCCGACGC chr2:44359671-Variant-C;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative G gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GTATATGCCTGA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgtatatgcctgaAGATCGAGACCCGACGC chr2:44359671-Alternative-G;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Variant C gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat ACAGGATTGAGA CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAacaggattgagaAGATCGAGACCCGACGC chr2:44359671-Variant-C;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Variant C gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat CGGCAATACATT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagCaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAcggcaatacattAGATCGAGACCCGACGC chr2:44359671-Variant-C;Patient-55 chr2:44359671-AC DeNovo Patient-55 intergenic NA 0.000513 0.31 7.32 2.61 PPM1B 36328 Alternative G gaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaat GCAATCTAGGTT CGACGCGGTCTCTCTCTgaggctttgaagagaggcataaaatcaacatggggttctgagaggggcagGaaatgagcttcattctcacaaaatttggccttgagctaactttggaaatAGAGGGAGACGGACGTCTCAATAAgcaatctaggttAGATCGAGACCCGACGC chr2:44359671-Alternative-G;Patient-55 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative C acatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcg AACAGCGGACAG CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAaacagcggacagAGATCGAGACCCGACGC chr2:44469991-Alternative-C;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Variant G acatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcg GCAGCGGTTAGA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAgcagcggttagaAGATCGAGACCCGACGC chr2:44469991-Variant-G;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Variant G acatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcg AAGGCGGTCTAC CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAaaggcggtctacAGATCGAGACCCGACGC chr2:44469991-Variant-G;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Variant G acatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcg ACGTACAGTGGT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAacgtacagtggtAGATCGAGACCCGACGC chr2:44469991-Variant-G;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Variant G acatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcg GGCTGACAGACA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAggctgacagacaAGATCGAGACCCGACGC chr2:44469991-Variant-G;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative C acatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcg AACAAGCTAACC CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAaacaagctaaccAGATCGAGACCCGACGC chr2:44469991-Alternative-C;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Variant G acatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcg GGTTATGCAACT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaGtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAggttatgcaactAGATCGAGACCCGACGC chr2:44469991-Variant-G;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative A acatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcg ATCGCGGAACGT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAatcgcggaacgtAGATCGAGACCCGACGC chr2:44469991-Alternative-A;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Reference T acatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcg CTGCATTCATAC CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAActgcattcatacAGATCGAGACCCGACGC chr2:44469991-Reference-T;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Reference T acatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcg AATGTCTCGTGA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAaatgtctcgtgaAGATCGAGACCCGACGC chr2:44469991-Reference-T;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Reference T acatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcg CGTAGTGCCAGT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAcgtagtgccagtAGATCGAGACCCGACGC chr2:44469991-Reference-T;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative C acatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcg GTACGCAACATC CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAgtacgcaacatcAGATCGAGACCCGACGC chr2:44469991-Alternative-C;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Reference T acatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcg ATTGCTCGCGTC CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAattgctcgcgtcAGATCGAGACCCGACGC chr2:44469991-Reference-T;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative A acatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcg GTTCGAAGTACT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAgttcgaagtactAGATCGAGACCCGACGC chr2:44469991-Alternative-A;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative C acatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcg ATACGGTGTTGT CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAatacggtgttgtAGATCGAGACCCGACGC chr2:44469991-Alternative-C;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Reference T acatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcg CGTGTTATACGA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaTtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAcgtgttatacgaAGATCGAGACCCGACGC chr2:44469991-Reference-T;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative A acatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcg GCATAGGTGTAA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAgcataggtgtaaAGATCGAGACCCGACGC chr2:44469991-Alternative-A;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative C acatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcg AGCTTAGTGACG CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaCtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAagcttagtgacgAGATCGAGACCCGACGC chr2:44469991-Alternative-C;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative A acatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcg CTTGTTCCAAGG CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAActtgttccaaggAGATCGAGACCCGACGC chr2:44469991-Alternative-A;Patient-30 chr2:44469991-TG Inherited Patient-30 intergenic NA 6.28e-05 NA NA NA SLC3A1 32605 Alternative A acatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcg GGCACGATCTTA CGACGCGGTCTCTCTCTacatatttataatttttcttgatttgtgagagctctttatacatgtaggaAtttaaccattattctgttacctatgtcatggattattttcctgagttcgAGAGGGAGACGGACGTCTCAATAAggcacgatcttaAGATCGAGACCCGACGC chr2:44469991-Alternative-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative C gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg ACTTGGTAGTCA CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAacttggtagtcaAGATCGAGACCCGACGC chr2:44474474-Alternative-C;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative C gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GGTTGTGGTATT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAggttgtggtattAGATCGAGACCCGACGC chr2:44474474-Alternative-C;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative C gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GGAACACACGAC CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAggaacacacgacAGATCGAGACCCGACGC chr2:44474474-Alternative-C;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Reference A gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CGTGTCTGTCGT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcgtgtctgtcgtAGATCGAGACCCGACGC chr2:44474474-Reference-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Reference A gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CGCCAGGAACTT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcgccaggaacttAGATCGAGACCCGACGC chr2:44474474-Reference-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Reference A gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg AACAACCTTGAC CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAaacaaccttgacAGATCGAGACCCGACGC chr2:44474474-Reference-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Reference A gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CGACACGGTCAT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcgacacggtcatAGATCGAGACCCGACGC chr2:44474474-Reference-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Reference A gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg AATCAAGCGTAC CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaAaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAaatcaagcgtacAGATCGAGACCCGACGC chr2:44474474-Reference-A;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Variant T gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CGACATAACGAA CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcgacataacgaaAGATCGAGACCCGACGC chr2:44474474-Variant-T;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Variant T gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CAAGCTATATGG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcaagctatatggAGATCGAGACCCGACGC chr2:44474474-Variant-T;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Variant T gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GTAAGCACCACG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgtaagcaccacgAGATCGAGACCCGACGC chr2:44474474-Variant-T;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative C gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CGATTAGTCTGT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcgattagtctgtAGATCGAGACCCGACGC chr2:44474474-Alternative-C;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative C gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg AGATGCGGTATC CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaCaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAagatgcggtatcAGATCGAGACCCGACGC chr2:44474474-Alternative-C;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Variant T gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GTAGTCAATTCG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgtagtcaattcgAGATCGAGACCCGACGC chr2:44474474-Variant-T;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Variant T gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg ACCGATCTCGCT CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaTaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAaccgatctcgctAGATCGAGACCCGACGC chr2:44474474-Variant-T;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative G gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GACAACGCTGAG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgacaacgctgagAGATCGAGACCCGACGC chr2:44474474-Alternative-G;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative G gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg CACGCACGATGA CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAcacgcacgatgaAGATCGAGACCCGACGC chr2:44474474-Alternative-G;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative G gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GTGTCGAGATGG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgtgtcgagatggAGATCGAGACCCGACGC chr2:44474474-Alternative-G;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative G gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GCCAACCTTAGG CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgccaaccttaggAGATCGAGACCCGACGC chr2:44474474-Alternative-G;Patient-30 chr2:44474474-AT Inherited Patient-30 intergenic 0.000389 0.000512821 NA NA NA SLC3A1 28122 Alternative G gcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactg GTTGAGTCGCAC CGACGCGGTCTCTCTCTgcaccctacattctcccctacctgatatatatcctctttcttaaataaaaGaaataaaaaaaaaaaaagaacaatggaaaaaggcgacactgtaggactgAGAGGGAGACGGACGTCTCAATAAgttgagtcgcacAGATCGAGACCCGACGC chr2:44474474-Alternative-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative T gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GGAACTACGAGT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAggaactacgagtAGATCGAGACCCGACGC chr2:44481598-Alternative-T;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative T gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ACTTGACCGGAG CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAacttgaccggagAGATCGAGACCCGACGC chr2:44481598-Alternative-T;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Variant G gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GTATAGCGTGTT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAgtatagcgtgttAGATCGAGACCCGACGC chr2:44481598-Variant-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Reference C gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ACTGAGTACACT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAactgagtacactAGATCGAGACCCGACGC chr2:44481598-Reference-C;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative A gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CGAATGTCATGT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAcgaatgtcatgtAGATCGAGACCCGACGC chr2:44481598-Alternative-A;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative A gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt AATGGACCTATC CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAaatggacctatcAGATCGAGACCCGACGC chr2:44481598-Alternative-A;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative A gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GGTGACGTCCAT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAggtgacgtccatAGATCGAGACCCGACGC chr2:44481598-Alternative-A;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative A gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ACATATGCGACG CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAacatatgcgacgAGATCGAGACCCGACGC chr2:44481598-Alternative-A;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative A gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GACCGATTCTAA CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagAtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAgaccgattctaaAGATCGAGACCCGACGC chr2:44481598-Alternative-A;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative T gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt AGGTACGCTGGT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAaggtacgctggtAGATCGAGACCCGACGC chr2:44481598-Alternative-T;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative T gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CACTTATTGCGA CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAcacttattgcgaAGATCGAGACCCGACGC chr2:44481598-Alternative-T;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Alternative T gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ACGATGCGGCTT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagTtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAacgatgcggcttAGATCGAGACCCGACGC chr2:44481598-Alternative-T;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Variant G gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GCAAGCTGTTAT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAgcaagctgttatAGATCGAGACCCGACGC chr2:44481598-Variant-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Variant G gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CTAGATATGCGT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAActagatatgcgtAGATCGAGACCCGACGC chr2:44481598-Variant-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Variant G gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CGGCTCGATCTA CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAcggctcgatctaAGATCGAGACCCGACGC chr2:44481598-Variant-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Variant G gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt GTTGATTCATGG CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagGtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAgttgattcatggAGATCGAGACCCGACGC chr2:44481598-Variant-G;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Reference C gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CATCGAGAATGA CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAcatcgagaatgaAGATCGAGACCCGACGC chr2:44481598-Reference-C;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Reference C gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ACTGAGTTAGGT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAactgagttaggtAGATCGAGACCCGACGC chr2:44481598-Reference-C;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Reference C gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt CAGCTCAACGAT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAcagctcaacgatAGATCGAGACCCGACGC chr2:44481598-Reference-C;Patient-30 chr2:44481598-CG Inherited Patient-30 intergenic 0.000319 0.000513 NA NA NA SLC3A1 20998 Reference C gtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaacctt ATCACGTGTTCT CGACGCGGTCTCTCTCTgtaaaaggataggagaaaatgtaccataaaaaatactaatcaaaggaaagCtagagaagaacaaaattgaaggactcatgcttactaatttcaaaaccttAGAGGGAGACGGACGTCTCAATAAatcacgtgttctAGATCGAGACCCGACGC chr2:44481598-Reference-C;Patient-30 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative G gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa CATAACGTCCGG CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAcataacgtccggAGATCGAGACCCGACGC chr2:45089367-Alternative-G;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative G gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GATTCGTCATGA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgattcgtcatgaAGATCGAGACCCGACGC chr2:45089367-Alternative-G;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative T gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GCAGCGTCTGTT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgcagcgtctgttAGATCGAGACCCGACGC chr2:45089367-Alternative-T;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative G gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa CGTTACGCGTTC CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAcgttacgcgttcAGATCGAGACCCGACGC chr2:45089367-Alternative-G;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative G gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa AGTAGTGCTCAT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAagtagtgctcatAGATCGAGACCCGACGC chr2:45089367-Alternative-G;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative T gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GATACGATCCGT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgatacgatccgtAGATCGAGACCCGACGC chr2:45089367-Alternative-T;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative T gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa CTGAGTAGCGGT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAActgagtagcggtAGATCGAGACCCGACGC chr2:45089367-Alternative-T;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Reference A gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa AGCGGTATAACA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAagcggtataacaAGATCGAGACCCGACGC chr2:45089367-Reference-A;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative T gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GATAGGTCGATA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgataggtcgataAGATCGAGACCCGACGC chr2:45089367-Alternative-T;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Reference A gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa CGCAACTCATAA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAcgcaactcataaAGATCGAGACCCGACGC chr2:45089367-Reference-A;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative T gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ACGAGGCGTAGA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacTtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAacgaggcgtagaAGATCGAGACCCGACGC chr2:45089367-Alternative-T;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Reference A gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ACGAACTTCCGT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAacgaacttccgtAGATCGAGACCCGACGC chr2:45089367-Reference-A;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Reference A gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ACCTGTACTAAG CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAacctgtactaagAGATCGAGACCCGACGC chr2:45089367-Reference-A;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Variant C gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GTCGTCGTCTGT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgtcgtcgtctgtAGATCGAGACCCGACGC chr2:45089367-Variant-C;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Variant C gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ACCAAGTTCGAT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAaccaagttcgatAGATCGAGACCCGACGC chr2:45089367-Variant-C;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Variant C gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ATATACGGCGAA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAatatacggcgaaAGATCGAGACCCGACGC chr2:45089367-Variant-C;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Alternative G gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa ATACGCACCAAT CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacGtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAatacgcaccaatAGATCGAGACCCGACGC chr2:45089367-Alternative-G;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Variant C gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GCATGAGGCCTA CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAgcatgaggcctaAGATCGAGACCCGACGC chr2:45089367-Variant-C;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Variant C gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa GGCTCACAACAC CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacCtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAggctcacaacacAGATCGAGACCCGACGC chr2:45089367-Variant-C;Patient-37 chr2:45089367-AC DeNovo Patient-37 intergenic NA 0.000513 -0.03 2.21 -0.88 SIX3 79669 Reference A gaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaa CACAGCACAAGG CGACGCGGTCTCTCTCTgaacatttacccagataaaccacattttgcgtgataaaacatcttaacacAtttgaaataatagaaatcatacagtgtctgctcttagaacacaatggaaAGAGGGAGACGGACGTCTCAATAAcacagcacaaggAGATCGAGACCCGACGC chr2:45089367-Reference-A;Patient-37 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Reference G ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcct ACGTCAACACCG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAacgtcaacaccgAGATCGAGACCCGACGC chr2:45185548-Reference-G;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative A ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CTCACCGATGCT CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAActcaccgatgctAGATCGAGACCCGACGC chr2:45185548-Alternative-A;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Reference G ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcct AACGAAGTACGT CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAaacgaagtacgtAGATCGAGACCCGACGC chr2:45185548-Reference-G;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Reference G ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcct ACGATAGGATGG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAacgataggatggAGATCGAGACCCGACGC chr2:45185548-Reference-G;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative C ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GGTTACGCCGAA CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAggttacgccgaaAGATCGAGACCCGACGC chr2:45185548-Alternative-C;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative A ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CTGTGCGATCTA CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAActgtgcgatctaAGATCGAGACCCGACGC chr2:45185548-Alternative-A;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative A ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcct AATAGTAGCGGT CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAaatagtagcggtAGATCGAGACCCGACGC chr2:45185548-Alternative-A;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative A ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GACGGTTATTGC CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAgacggttattgcAGATCGAGACCCGACGC chr2:45185548-Alternative-A;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative A ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CATCAGTGCTAA CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctAggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAcatcagtgctaaAGATCGAGACCCGACGC chr2:45185548-Alternative-A;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Reference G ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GGCGGTGTTCAT CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAggcggtgttcatAGATCGAGACCCGACGC chr2:45185548-Reference-G;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative C ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcct AGGACTCTAACG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAaggactctaacgAGATCGAGACCCGACGC chr2:45185548-Alternative-C;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative C ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GAGCCTAAGGAC CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAgagcctaaggacAGATCGAGACCCGACGC chr2:45185548-Alternative-C;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative C ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CAGATAGTGAAC CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAcagatagtgaacAGATCGAGACCCGACGC chr2:45185548-Alternative-C;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Alternative C ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CGATCTAACCGC CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctCggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAcgatctaaccgcAGATCGAGACCCGACGC chr2:45185548-Alternative-C;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Variant T ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GAATCGCAGACG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAgaatcgcagacgAGATCGAGACCCGACGC chr2:45185548-Variant-T;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Reference G ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CAATAACGCCGT CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctGggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAcaataacgccgtAGATCGAGACCCGACGC chr2:45185548-Reference-G;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Variant T ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CTCTCTGTCGAG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAActctctgtcgagAGATCGAGACCCGACGC chr2:45185548-Variant-T;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Variant T ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GAATCAGGTAAG CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAgaatcaggtaagAGATCGAGACCCGACGC chr2:45185548-Variant-T;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Variant T ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcct GTTGAACGGTCC CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAgttgaacggtccAGATCGAGACCCGACGC chr2:45185548-Variant-T;Patient-61 chr2:45185548-GT Inherited Patient-61 intergenic NA 0.000513 0.12 4.53 1.98 SIX3 16510 Variant T ggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcct CATCGTGAGCGA CGACGCGGTCTCTCTCTggtagtgtgtgttggaggggagaatgtgggtcccttggaagggagtggctTggggccctgagctctgggggataatccaggccaaccctgtggtgctcctAGAGGGAGACGGACGTCTCAATAAcatcgtgagcgaAGATCGAGACCCGACGC chr2:45185548-Variant-T;Patient-61 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative A tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc CGTGACGTTACA CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAcgtgacgttacaAGATCGAGACCCGACGC chr2:45190892-Alternative-A;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative A tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GAATCGCTTGAC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgaatcgcttgacAGATCGAGACCCGACGC chr2:45190892-Alternative-A;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative A tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GCGTGCAACAAC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgcgtgcaacaacAGATCGAGACCCGACGC chr2:45190892-Alternative-A;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Variant C tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc ACCGACGAACCT CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAaccgacgaacctAGATCGAGACCCGACGC chr2:45190892-Variant-C;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative A tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc ACGTTGCGTCGA CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAacgttgcgtcgaAGATCGAGACCCGACGC chr2:45190892-Alternative-A;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative G tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GACCGGTCATAC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgaccggtcatacAGATCGAGACCCGACGC chr2:45190892-Alternative-G;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Variant C tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc ATCATAGGCGCG CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAatcataggcgcgAGATCGAGACCCGACGC chr2:45190892-Variant-C;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Variant C tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GAGCATGCGGAA CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgagcatgcggaaAGATCGAGACCCGACGC chr2:45190892-Variant-C;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Variant C tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GTACTACGGATT CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgtactacggattAGATCGAGACCCGACGC chr2:45190892-Variant-C;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative G tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GGACGATTACGG CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAggacgattacggAGATCGAGACCCGACGC chr2:45190892-Alternative-G;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative G tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc ATCTTGGCGGCA CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAatcttggcggcaAGATCGAGACCCGACGC chr2:45190892-Alternative-G;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative G tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc CGTGCGTGAATC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAcgtgcgtgaatcAGATCGAGACCCGACGC chr2:45190892-Alternative-G;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative G tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc AATACGAGACAC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcGtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAaatacgagacacAGATCGAGACCCGACGC chr2:45190892-Alternative-G;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Reference T tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GATCGTCGACAC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgatcgtcgacacAGATCGAGACCCGACGC chr2:45190892-Reference-T;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Reference T tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GTTCATCACGCG CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgttcatcacgcgAGATCGAGACCCGACGC chr2:45190892-Reference-T;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Variant C tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GGCTCATAATCA CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcCtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAggctcataatcaAGATCGAGACCCGACGC chr2:45190892-Variant-C;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Reference T tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GTTATAGTCTGG CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgttatagtctggAGATCGAGACCCGACGC chr2:45190892-Reference-T;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Alternative A tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc CTCGTGATCGTC CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcAtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAActcgtgatcgtcAGATCGAGACCCGACGC chr2:45190892-Alternative-A;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Reference T tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc CAACAGGCGTGT CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAcaacaggcgtgtAGATCGAGACCCGACGC chr2:45190892-Reference-T;Patient-71 chr2:45190892-TC DeNovo Patient-71 intergenic NA 0.000512821 -0.04 2.08 0.23 SIX3 21854 Reference T tgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctc GCCGTAAGTGCT CGACGCGGTCTCTCTCTtgagttggattatctttctgtcacccaggctggagtgcagtggcatgatcTtggcttactgcaacctccacttcccgggttaaagtgatcctcctgcctcAGAGGGAGACGGACGTCTCAATAAgccgtaagtgctAGATCGAGACCCGACGC chr2:45190892-Reference-T;Patient-71 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative A accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GTCGTCGTGTTC CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgtcgtcgtgttcAGATCGAGACCCGACGC chr2:45275788-Alternative-A;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative G accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc AAGACCGAACGG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAaagaccgaacggAGATCGAGACCCGACGC chr2:45275788-Alternative-G;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Reference T accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GTTGATCGCTAA CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgttgatcgctaaAGATCGAGACCCGACGC chr2:45275788-Reference-T;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Reference T accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc CGGAAGTGATAT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAcggaagtgatatAGATCGAGACCCGACGC chr2:45275788-Reference-T;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative A accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc ATCGTTAGTAGG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAatcgttagtaggAGATCGAGACCCGACGC chr2:45275788-Alternative-A;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative G accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GTATCAACGGAA CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgtatcaacggaaAGATCGAGACCCGACGC chr2:45275788-Alternative-G;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Variant C accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc AGCGCGAAGTGT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAagcgcgaagtgtAGATCGAGACCCGACGC chr2:45275788-Variant-C;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative A accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GTAACGTTCGCG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgtaacgttcgcgAGATCGAGACCCGACGC chr2:45275788-Alternative-A;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative A accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc CGTATCAAGTGT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAcgtatcaagtgtAGATCGAGACCCGACGC chr2:45275788-Alternative-A;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Variant C accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc AGTTCTGTACCT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAagttctgtacctAGATCGAGACCCGACGC chr2:45275788-Variant-C;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Reference T accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc AGGCCAAGAGCA CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAaggccaagagcaAGATCGAGACCCGACGC chr2:45275788-Reference-T;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Variant C accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GGCGAAGACATT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAggcgaagacattAGATCGAGACCCGACGC chr2:45275788-Variant-C;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Reference T accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GATCACATGGTT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgatcacatggttAGATCGAGACCCGACGC chr2:45275788-Reference-T;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Reference T accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc ATAACAAGGTCG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttTattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAataacaaggtcgAGATCGAGACCCGACGC chr2:45275788-Reference-T;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative A accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GGCGATATTGAC CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttAattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAggcgatattgacAGATCGAGACCCGACGC chr2:45275788-Alternative-A;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Variant C accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc AGTGCTAACCGG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAagtgctaaccggAGATCGAGACCCGACGC chr2:45275788-Variant-C;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Variant C accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc CTGCGTGAACGA CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttCattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAActgcgtgaacgaAGATCGAGACCCGACGC chr2:45275788-Variant-C;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative G accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GACGAATATACG CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgacgaatatacgAGATCGAGACCCGACGC chr2:45275788-Alternative-G;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative G accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc CGAGAGCTCGTT CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAcgagagctcgttAGATCGAGACCCGACGC chr2:45275788-Alternative-G;Patient-57 chr2:45275788-TC DeNovo Patient-57 intergenic 6.4e-05 0.00103 0 2.58 -0.87 SIX2 39245 Alternative G accacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtcc GCCACCGACTTA CGACGCGGTCTCTCTCTaccacagtttgtttagccaagttcaaaaacatgctttcatttactgctttGattcaagaatgtcagtactttcagctgacctgatggttaagcagagtccAGAGGGAGACGGACGTCTCAATAAgccaccgacttaAGATCGAGACCCGACGC chr2:45275788-Alternative-G;Patient-57 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative C atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CTATAACGGCTT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAActataacggcttAGATCGAGACCCGACGC chr2:45932156-Alternative-C;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative C atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa GCACCATTGATA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAgcaccattgataAGATCGAGACCCGACGC chr2:45932156-Alternative-C;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative C atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AGTAGCTATACG CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAagtagctatacgAGATCGAGACCCGACGC chr2:45932156-Alternative-C;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative C atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CGCGCAGTATGT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAcgcgcagtatgtAGATCGAGACCCGACGC chr2:45932156-Alternative-C;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative T atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CGCGTGATTACG CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAcgcgtgattacgAGATCGAGACCCGACGC chr2:45932156-Alternative-T;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Reference G atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ACATAGGCCGAC CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAacataggccgacAGATCGAGACCCGACGC chr2:45932156-Reference-G;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative T atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CTAGCCTGGAGA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAActagcctggagaAGATCGAGACCCGACGC chr2:45932156-Alternative-T;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Reference G atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ATCTTAGAGCGT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAatcttagagcgtAGATCGAGACCCGACGC chr2:45932156-Reference-G;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative T atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AGAGCACGGTGT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAagagcacggtgtAGATCGAGACCCGACGC chr2:45932156-Alternative-T;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Reference G atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AACGCGCTGTTC CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAaacgcgctgttcAGATCGAGACCCGACGC chr2:45932156-Reference-G;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Reference G atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ATAGTCTCGGAT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAatagtctcggatAGATCGAGACCCGACGC chr2:45932156-Reference-G;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative C atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ACGCGTACCAAG CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctCtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAacgcgtaccaagAGATCGAGACCCGACGC chr2:45932156-Alternative-C;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative T atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CAGACGTTGTGC CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAcagacgttgtgcAGATCGAGACCCGACGC chr2:45932156-Alternative-T;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Variant A atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AGATAGCGGATT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAagatagcggattAGATCGAGACCCGACGC chr2:45932156-Variant-A;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Reference G atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ACTAGTCTGACA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctGtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAactagtctgacaAGATCGAGACCCGACGC chr2:45932156-Reference-G;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Alternative T atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AGCCTTCGGCAA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctTtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAagccttcggcaaAGATCGAGACCCGACGC chr2:45932156-Alternative-T;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Variant A atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa GAATGCGATAGT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAgaatgcgatagtAGATCGAGACCCGACGC chr2:45932156-Variant-A;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Variant A atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa CAATGCTAACCA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAcaatgctaaccaAGATCGAGACCCGACGC chr2:45932156-Variant-A;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Variant A atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa ATCGACTCGTTA CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAatcgactcgttaAGATCGAGACCCGACGC chr2:45932156-Variant-A;Patient-54 chr2:45932156-GA DeNovo Patient-54 intronic PRKCE NA 4.95e-05 -0.36 0.25 -7.25 PRKCE 53112 Variant A atctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaa AATCGACGATGT CGACGCGGTCTCTCTCTatctatcaggaggggagcctgaatggtcccctcttccttgcaggggagctAtggggcacagatgagataaagcaggtggagtacttcaagaagtttaaaaAGAGGGAGACGGACGTCTCAATAAaatcgacgatgtAGATCGAGACCCGACGC chr2:45932156-Variant-A;Patient-54 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Reference C ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt AACTTAGGCCGG CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAaacttaggccggAGATCGAGACCCGACGC chr2:46556700-Reference-C;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Reference C ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt ACCTCATGTCAT CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAacctcatgtcatAGATCGAGACCCGACGC chr2:46556700-Reference-C;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Reference C ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt CGTTCGGACTGA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAcgttcggactgaAGATCGAGACCCGACGC chr2:46556700-Reference-C;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative A ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt ATACCGCTCACG CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAataccgctcacgAGATCGAGACCCGACGC chr2:46556700-Alternative-A;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Reference C ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GCGTTATGTCTA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgcgttatgtctaAGATCGAGACCCGACGC chr2:46556700-Reference-C;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Reference C ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GTAATGCGTCAA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgCgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgtaatgcgtcaaAGATCGAGACCCGACGC chr2:46556700-Reference-C;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Variant T ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt CTGTTATTGCAC CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAActgttattgcacAGATCGAGACCCGACGC chr2:46556700-Variant-T;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative A ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt CAGTCGTTGTGG CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAcagtcgttgtggAGATCGAGACCCGACGC chr2:46556700-Alternative-A;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Variant T ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GGCAATAGACGA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAggcaatagacgaAGATCGAGACCCGACGC chr2:46556700-Variant-T;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative A ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt AGTTGTGGACTT CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAagttgtggacttAGATCGAGACCCGACGC chr2:46556700-Alternative-A;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative A ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GTCAGTAGCGCA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgtcagtagcgcaAGATCGAGACCCGACGC chr2:46556700-Alternative-A;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative A ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GTTCGAGATCTA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgAgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgttcgagatctaAGATCGAGACCCGACGC chr2:46556700-Alternative-A;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Variant T ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt CATAGGTGTACT CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAcataggtgtactAGATCGAGACCCGACGC chr2:46556700-Variant-T;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Variant T ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt AGTTGTTGGTCA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAagttgttggtcaAGATCGAGACCCGACGC chr2:46556700-Variant-T;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative G ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt AAGGCTGTGCAG CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAaaggctgtgcagAGATCGAGACCCGACGC chr2:46556700-Alternative-G;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative G ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GCATGCATCGGT CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgcatgcatcggtAGATCGAGACCCGACGC chr2:46556700-Alternative-G;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Variant T ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GTAAGAGCTAGA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgTgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgtaagagctagaAGATCGAGACCCGACGC chr2:46556700-Variant-T;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative G ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt CTGTGCGGTGAA CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAActgtgcggtgaaAGATCGAGACCCGACGC chr2:46556700-Alternative-G;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative G ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GTATACACGGAC CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgtatacacggacAGATCGAGACCCGACGC chr2:46556700-Alternative-G;Patient-89 chr2:46556700-CT Inherited Patient-89 intronic EPAS1 3.2e-05 4.95e-05 -0.28 0.42 -0.45 EPAS1 32158 Alternative G ctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggt GCGAGTCGCTAT CGACGCGGTCTCTCTCTctctataggctttctattaaaacacacacacggccaggcgtggtggctcgGgcctgtaatcccagcactttaggaggccgaggcgggtggatcatgaggtAGAGGGAGACGGACGTCTCAATAAgcgagtcgctatAGATCGAGACCCGACGC chr2:46556700-Alternative-G;Patient-89 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative G ttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CGACAGACTACC CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcgacagactaccAGATCGAGACCCGACGC chr2:46559872-Alternative-G;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative G ttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CTCGTGCTACAC CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAActcgtgctacacAGATCGAGACCCGACGC chr2:46559872-Alternative-G;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative G ttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CATCCATTGGTT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcatccattggttAGATCGAGACCCGACGC chr2:46559872-Alternative-G;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Variant T ttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CGGTATGCGTGA CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcggtatgcgtgaAGATCGAGACCCGACGC chr2:46559872-Variant-T;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Variant T ttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag AATCTGCACAAC CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAaatctgcacaacAGATCGAGACCCGACGC chr2:46559872-Variant-T;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Variant T ttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CTCGGAATTAGT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAActcggaattagtAGATCGAGACCCGACGC chr2:46559872-Variant-T;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Variant T ttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GGTGAATGACGC CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAggtgaatgacgcAGATCGAGACCCGACGC chr2:46559872-Variant-T;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Variant T ttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GTCATCTAATCG CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttTtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAgtcatctaatcgAGATCGAGACCCGACGC chr2:46559872-Variant-T;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Reference A ttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag AGATCATCCGCA CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAagatcatccgcaAGATCGAGACCCGACGC chr2:46559872-Reference-A;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative G ttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag AAGCAACGACAG CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAaagcaacgacagAGATCGAGACCCGACGC chr2:46559872-Alternative-G;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Reference A ttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CGGTGGAGCTAA CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcggtggagctaaAGATCGAGACCCGACGC chr2:46559872-Reference-A;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative C ttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag AGTGCTCATGAG CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAagtgctcatgagAGATCGAGACCCGACGC chr2:46559872-Alternative-C;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative C ttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CATTCTAGATCG CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcattctagatcgAGATCGAGACCCGACGC chr2:46559872-Alternative-C;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Reference A ttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GAGCACGATCCA CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAgagcacgatccaAGATCGAGACCCGACGC chr2:46559872-Reference-A;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative C ttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GGCCATTAGACT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAggccattagactAGATCGAGACCCGACGC chr2:46559872-Alternative-C;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative C ttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CTTGCACCGAAC CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAActtgcaccgaacAGATCGAGACCCGACGC chr2:46559872-Alternative-C;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Reference A ttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GCGATCACCAAG CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAgcgatcaccaagAGATCGAGACCCGACGC chr2:46559872-Reference-A;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative G ttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag GACGATACGCCT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttGtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAgacgatacgcctAGATCGAGACCCGACGC chr2:46559872-Alternative-G;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Alternative C ttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag CATTCTGACACT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttCtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAcattctgacactAGATCGAGACCCGACGC chr2:46559872-Alternative-C;Patient-75 chr2:46559872-AT DeNovo Patient-75 intronic EPAS1 0.000128 4.95e-05 0.27 6.85 2.68 EPAS1 35330 Reference A ttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccag ACGTTACAAGCT CGACGCGGTCTCTCTCTttagtggctttttccccctggggcttggcccattttctcacctctatgttAtatcaccagaagggtggaaccctggccaagccctggcatcctctgccagAGAGGGAGACGGACGTCTCAATAAacgttacaagctAGATCGAGACCCGACGC chr2:46559872-Reference-A;Patient-75 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative C ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct ACTAATCGATCG CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAactaatcgatcgAGATCGAGACCCGACGC chr2:46584191-Alternative-C;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative C ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct AGTATCGCATCA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAagtatcgcatcaAGATCGAGACCCGACGC chr2:46584191-Alternative-C;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative C ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct AGACGCCAATAA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAagacgccaataaAGATCGAGACCCGACGC chr2:46584191-Alternative-C;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative C ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CACGCCACATAA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAcacgccacataaAGATCGAGACCCGACGC chr2:46584191-Alternative-C;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative C ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct AGCAACGACTAA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgCgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAagcaacgactaaAGATCGAGACCCGACGC chr2:46584191-Alternative-C;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Variant A ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CACGTGATAGAA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAcacgtgatagaaAGATCGAGACCCGACGC chr2:46584191-Variant-A;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Variant A ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CTTGATCGGTGG CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAActtgatcggtggAGATCGAGACCCGACGC chr2:46584191-Variant-A;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Variant A ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct ACAATGTAACCG CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAacaatgtaaccgAGATCGAGACCCGACGC chr2:46584191-Variant-A;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Variant A ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct ACCGTTCTCGAC CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAaccgttctcgacAGATCGAGACCCGACGC chr2:46584191-Variant-A;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Variant A ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct ACGAGATGGTCG CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgAgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAacgagatggtcgAGATCGAGACCCGACGC chr2:46584191-Variant-A;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative T ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CTCGTTACGTAT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAActcgttacgtatAGATCGAGACCCGACGC chr2:46584191-Alternative-T;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative T ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct GCGATGCTCGTT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAgcgatgctcgttAGATCGAGACCCGACGC chr2:46584191-Alternative-T;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative T ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CATCTTATGCGT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAcatcttatgcgtAGATCGAGACCCGACGC chr2:46584191-Alternative-T;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative T ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct AACCGTGGCGTT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAaaccgtggcgttAGATCGAGACCCGACGC chr2:46584191-Alternative-T;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Alternative T ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CTAGGCCATGCT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgTgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAActaggccatgctAGATCGAGACCCGACGC chr2:46584191-Alternative-T;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Reference G ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct ACGTCTTGTACT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAacgtcttgtactAGATCGAGACCCGACGC chr2:46584191-Reference-G;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Reference G ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct GAGCATAATACG CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAgagcataatacgAGATCGAGACCCGACGC chr2:46584191-Reference-G;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Reference G ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct GCAGGTGAGTGT CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAgcaggtgagtgtAGATCGAGACCCGACGC chr2:46584191-Reference-G;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Reference G ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct GCACGCACGTAA CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAgcacgcacgtaaAGATCGAGACCCGACGC chr2:46584191-Reference-G;Patient-30 chr2:46584191-GA DeNovo Patient-30 intronic EPAS1 NA 4.95e-05 NA NA NA EPAS1 59649 Reference G ctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatct CAGCTATGCCAC CGACGCGGTCTCTCTCTctgctggccctgcatggtgcctggtgtcccactactaggggacacctttgGgttaggacactgtctctaggaggtttcatcacccaagagtcaagcatctAGAGGGAGACGGACGTCTCAATAAcagctatgccacAGATCGAGACCCGACGC chr2:46584191-Reference-G;Patient-30 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative G gccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GCGTAATGATGT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAgcgtaatgatgtAGATCGAGACCCGACGC chr2:46772969-Alternative-G;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative G gccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CTGTGTTGTCTA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAActgtgttgtctaAGATCGAGACCCGACGC chr2:46772969-Alternative-G;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative T gccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc AGCGTACGGTCT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAagcgtacggtctAGATCGAGACCCGACGC chr2:46772969-Alternative-T;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative G gccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CATAGATCTGGT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAcatagatctggtAGATCGAGACCCGACGC chr2:46772969-Alternative-G;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative T gccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GGTCTTGTTCTA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAggtcttgttctaAGATCGAGACCCGACGC chr2:46772969-Alternative-T;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative T gccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GTAATCAACGGT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAgtaatcaacggtAGATCGAGACCCGACGC chr2:46772969-Alternative-T;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative T gccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc AGCCTTGTACTA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAagccttgtactaAGATCGAGACCCGACGC chr2:46772969-Alternative-T;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Reference A gccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc ACCTTCGGTTAT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAaccttcggttatAGATCGAGACCCGACGC chr2:46772969-Reference-A;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative G gccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc AGGTGGTAGATT CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAaggtggtagattAGATCGAGACCCGACGC chr2:46772969-Alternative-G;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative G gccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc ACGATGGCTACG CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttGgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAacgatggctacgAGATCGAGACCCGACGC chr2:46772969-Alternative-G;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Reference A gccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GGATAGTGTAAC CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAggatagtgtaacAGATCGAGACCCGACGC chr2:46772969-Reference-A;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Alternative T gccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CTAGACTTCGCG CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttTgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAActagacttcgcgAGATCGAGACCCGACGC chr2:46772969-Alternative-T;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Variant C gccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CGAGTATGTTCA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAcgagtatgttcaAGATCGAGACCCGACGC chr2:46772969-Variant-C;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Reference A gccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc AGACGCTTCTAA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAagacgcttctaaAGATCGAGACCCGACGC chr2:46772969-Reference-A;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Reference A gccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GGTCGCAATTGA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAggtcgcaattgaAGATCGAGACCCGACGC chr2:46772969-Reference-A;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Variant C gccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CTTGAGTCCGTC CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAActtgagtccgtcAGATCGAGACCCGACGC chr2:46772969-Variant-C;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Variant C gccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CTAACCAAGCCA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAActaaccaagccaAGATCGAGACCCGACGC chr2:46772969-Variant-C;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Reference A gccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GTACGTAGACGG CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttAgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAgtacgtagacggAGATCGAGACCCGACGC chr2:46772969-Reference-A;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Variant C gccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc CTAGCTAAGAAG CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAActagctaagaagAGATCGAGACCCGACGC chr2:46772969-Variant-C;Patient-88 chr2:46772969-AC DeNovo Patient-88 intronic RHOQ NA 4.95e-05 0.13 4.78 -0.66 RHOQ 3101 Variant C gccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttcc GCAGTTGTAAGA CGACGCGGTCTCTCTCTgccattctctgagtgggtgttggatggcacctctacagaggagagaacttCgatccagagtcacttgaagttgaccccacttacaaaaccagggctttccAGAGGGAGACGGACGTCTCAATAAgcagttgtaagaAGATCGAGACCCGACGC chr2:46772969-Variant-C;Patient-88 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative G gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GATCGGTATAAC CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAgatcggtataacAGATCGAGACCCGACGC chr2:46814561-Alternative-G;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Reference T gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CGTGTGACGAGA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAcgtgtgacgagaAGATCGAGACCCGACGC chr2:46814561-Reference-T;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Reference T gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CGCAGTTACAAG CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAcgcagttacaagAGATCGAGACCCGACGC chr2:46814561-Reference-T;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative G gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca ACGTATGCGAAT CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAacgtatgcgaatAGATCGAGACCCGACGC chr2:46814561-Alternative-G;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Reference T gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CATAGACCTCAA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAcatagacctcaaAGATCGAGACCCGACGC chr2:46814561-Reference-T;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Reference T gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GTTGGCGGTCAA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAgttggcggtcaaAGATCGAGACCCGACGC chr2:46814561-Reference-T;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative G gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca AGTGCGATGAGA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAagtgcgatgagaAGATCGAGACCCGACGC chr2:46814561-Alternative-G;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative G gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CTGTCGGTGACA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAActgtcggtgacaAGATCGAGACCCGACGC chr2:46814561-Alternative-G;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Reference T gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GACTGCCGTAGA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattTctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAgactgccgtagaAGATCGAGACCCGACGC chr2:46814561-Reference-T;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative G gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca AGATGTTAGTGG CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattGctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAagatgttagtggAGATCGAGACCCGACGC chr2:46814561-Alternative-G;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative A gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca AGTCAAGCCTGG CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAagtcaagcctggAGATCGAGACCCGACGC chr2:46814561-Alternative-A;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative A gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GCAGGATTAGCG CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAgcaggattagcgAGATCGAGACCCGACGC chr2:46814561-Alternative-A;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative A gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca ATAACACGGCTT CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAataacacggcttAGATCGAGACCCGACGC chr2:46814561-Alternative-A;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Variant C gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GGTCGTAAGCGT CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAggtcgtaagcgtAGATCGAGACCCGACGC chr2:46814561-Variant-C;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative A gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GTCTCGATGACG CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAgtctcgatgacgAGATCGAGACCCGACGC chr2:46814561-Alternative-A;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Variant C gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CGCACCGTTATC CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAcgcaccgttatcAGATCGAGACCCGACGC chr2:46814561-Variant-C;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Variant C gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca ACTTCCGGAATA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAacttccggaataAGATCGAGACCCGACGC chr2:46814561-Variant-C;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Variant C gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca CAACACAACGAA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAcaacacaacgaaAGATCGAGACCCGACGC chr2:46814561-Variant-C;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Alternative A gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GGCTATAGGCGA CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattActaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAggctataggcgaAGATCGAGACCCGACGC chr2:46814561-Alternative-A;Patient-100 chr2:46814561-TC DeNovo Patient-100 intronic PIGF 0.000426 0.000193 0.17 5.33 1.53 PIGF 29689 Variant C gcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaataca GGCACGATAAGT CGACGCGGTCTCTCTCTgcatctgtgactttaggaaatgaatatacatatttcacaaatactagattCctaacgtggtaaaactgaaaaaaaaaaacccaaaaaatttttaaatacaAGAGGGAGACGGACGTCTCAATAAggcacgataagtAGATCGAGACCCGACGC chr2:46814561-Variant-C;Patient-100 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative A ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GGCTATACTCTA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAggctatactctaAGATCGAGACCCGACGC chr2:46855544-Alternative-A;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative A ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GACTAGTACCAC CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAgactagtaccacAGATCGAGACCCGACGC chr2:46855544-Alternative-A;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative A ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg AATCGTCGACGC CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAaatcgtcgacgcAGATCGAGACCCGACGC chr2:46855544-Alternative-A;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Variant T ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg AGTCTACGATCA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAagtctacgatcaAGATCGAGACCCGACGC chr2:46855544-Variant-T;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative G ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CAAGATTCCTGA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAcaagattcctgaAGATCGAGACCCGACGC chr2:46855544-Alternative-G;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Reference C ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CTCATTGATTGC CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAActcattgattgcAGATCGAGACCCGACGC chr2:46855544-Reference-C;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative A ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GGCTGCGTTCAA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAggctgcgttcaaAGATCGAGACCCGACGC chr2:46855544-Alternative-A;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative G ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GTCGTAAGCCGT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAgtcgtaagccgtAGATCGAGACCCGACGC chr2:46855544-Alternative-G;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Reference C ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GGTGTCTTATGA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAggtgtcttatgaAGATCGAGACCCGACGC chr2:46855544-Reference-C;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Reference C ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg AATAGGCCGCGT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAaataggccgcgtAGATCGAGACCCGACGC chr2:46855544-Reference-C;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Reference C ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CTTAGGCACGCA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAActtaggcacgcaAGATCGAGACCCGACGC chr2:46855544-Reference-C;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative A ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg AGAACCGCATAA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccAggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAagaaccgcataaAGATCGAGACCCGACGC chr2:46855544-Alternative-A;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Reference C ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CATATGCCAACC CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccCggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAcatatgccaaccAGATCGAGACCCGACGC chr2:46855544-Reference-C;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Variant T ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CTGTTATTCTGG CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAActgttattctggAGATCGAGACCCGACGC chr2:46855544-Variant-T;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative G ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg ACGACTGTCTAA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAacgactgtctaaAGATCGAGACCCGACGC chr2:46855544-Alternative-G;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Variant T ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CATAAGCATGCT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAcataagcatgctAGATCGAGACCCGACGC chr2:46855544-Variant-T;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Variant T ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg GATGCATCACGT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAgatgcatcacgtAGATCGAGACCCGACGC chr2:46855544-Variant-T;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative G ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg ATCCGGACCATA CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAatccggaccataAGATCGAGACCCGACGC chr2:46855544-Alternative-G;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Alternative G ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg CGTATCTAGCTT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccGggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAcgtatctagcttAGATCGAGACCCGACGC chr2:46855544-Alternative-G;Patient-87 chr2:46855544-CT Inherited Patient-87 intergenic 0.000159 0.000513 -0.73 0.02 -0.45 CRIPT 11218 Variant T ccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgatagg ATATGCTCGCTT CGACGCGGTCTCTCTCTccgcctcagcctcccaaagtgctgggattacaggcgtgagccactggaccTggcaggatttttctaattctgtgaaaaatgatgtttgtagtttgataggAGAGGGAGACGGACGTCTCAATAAatatgctcgcttAGATCGAGACCCGACGC chr2:46855544-Variant-T;Patient-87 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Variant C tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGTTGGTTGACG CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgttggttgacgAGATCGAGACCCGACGC chr2:46907877-Variant-C;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative A tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CAACAGATAGCA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcaacagatagcaAGATCGAGACCCGACGC chr2:46907877-Alternative-A;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative A tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattatagg GGCTCGTAGTGT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAggctcgtagtgtAGATCGAGACCCGACGC chr2:46907877-Alternative-A;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative A tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattatagg ATTGGAACTCCT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAattggaactcctAGATCGAGACCCGACGC chr2:46907877-Alternative-A;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative A tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattatagg AACTATGCGTGT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAaactatgcgtgtAGATCGAGACCCGACGC chr2:46907877-Alternative-A;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Variant C tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGTGTAACCACA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgtgtaaccacaAGATCGAGACCCGACGC chr2:46907877-Variant-C;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Variant C tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGTACGGCTAGT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgtacggctagtAGATCGAGACCCGACGC chr2:46907877-Variant-C;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative A tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGTATAAGGCTT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccActgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgtataaggcttAGATCGAGACCCGACGC chr2:46907877-Alternative-A;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Variant C tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg ACTGTGGCGCTT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAactgtggcgcttAGATCGAGACCCGACGC chr2:46907877-Variant-C;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Variant C tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGAGTGTCTCTT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccCctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgagtgtctcttAGATCGAGACCCGACGC chr2:46907877-Variant-C;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative G tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CATAGCCGCTGA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcatagccgctgaAGATCGAGACCCGACGC chr2:46907877-Alternative-G;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative G tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg AACGTGTAAGGT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAaacgtgtaaggtAGATCGAGACCCGACGC chr2:46907877-Alternative-G;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Reference T tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg ACATCGGAGCCA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAacatcggagccaAGATCGAGACCCGACGC chr2:46907877-Reference-T;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative G tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg GGTTCTGAACAT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAggttctgaacatAGATCGAGACCCGACGC chr2:46907877-Alternative-G;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Reference T tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg GTTCGAACGCCT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAgttcgaacgcctAGATCGAGACCCGACGC chr2:46907877-Reference-T;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Reference T tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CTTACAGGATAC CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAActtacaggatacAGATCGAGACCCGACGC chr2:46907877-Reference-T;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative G tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg GCCAGGATATGG CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAgccaggatatggAGATCGAGACCCGACGC chr2:46907877-Alternative-G;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Alternative G tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg ATAGACAAGCGT CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccGctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAatagacaagcgtAGATCGAGACCCGACGC chr2:46907877-Alternative-G;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Reference T tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg AGCTCTAGGATA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAagctctaggataAGATCGAGACCCGACGC chr2:46907877-Reference-T;Patient-44 chr2:46907877-TC Inherited Patient-44 intergenic 3.3e-05 0.000513 -0.2 0.72 -0.76 SOCS5 18221 Reference T tctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattatagg CGACTCGGCATA CGACGCGGTCTCTCTCTtctgtcacctaggctggagtgcaatggcgcaatcttggctcactgcaaccTctgcctcccgggttcaagccattctcttgcctcagcctgggattataggAGAGGGAGACGGACGTCTCAATAAcgactcggcataAGATCGAGACCCGACGC chr2:46907877-Reference-T;Patient-44 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Variant A acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa ACTCTATCGCTA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAactctatcgctaAGATCGAGACCCGACGC chr2:47439736-Variant-A;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Variant A acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GATAGCTTCCGG CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgatagcttccggAGATCGAGACCCGACGC chr2:47439736-Variant-A;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative T acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GATACCAATGCT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgataccaatgctAGATCGAGACCCGACGC chr2:47439736-Alternative-T;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Variant A acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa ACACCGCAGCTT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAacaccgcagcttAGATCGAGACCCGACGC chr2:47439736-Variant-A;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative C acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa AATCTAGCAGGT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAaatctagcaggtAGATCGAGACCCGACGC chr2:47439736-Alternative-C;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative T acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa AGCATACGAGAT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAagcatacgagatAGATCGAGACCCGACGC chr2:47439736-Alternative-T;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Variant A acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GCATACCACGGT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgcataccacggtAGATCGAGACCCGACGC chr2:47439736-Variant-A;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative T acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GATCAGTGCACA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgatcagtgcacaAGATCGAGACCCGACGC chr2:47439736-Alternative-T;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Variant A acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa CGCGAGATTACA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaAactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAcgcgagattacaAGATCGAGACCCGACGC chr2:47439736-Variant-A;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative T acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GGTTGCGATCCT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAggttgcgatcctAGATCGAGACCCGACGC chr2:47439736-Alternative-T;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative C acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GTAGGTTCTGCG CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgtaggttctgcgAGATCGAGACCCGACGC chr2:47439736-Alternative-C;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Reference G acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa AATGAAGCCTGA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAaatgaagcctgaAGATCGAGACCCGACGC chr2:47439736-Reference-G;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative C acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa AGTAAGCGTCAA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAagtaagcgtcaaAGATCGAGACCCGACGC chr2:47439736-Alternative-C;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative C acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa CGCAGAACGGAT CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAcgcagaacggatAGATCGAGACCCGACGC chr2:47439736-Alternative-C;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative C acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa GATACACAGCTA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaCactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAgatacacagctaAGATCGAGACCCGACGC chr2:47439736-Alternative-C;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Reference G acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa CGGTATAGTCGG CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAcggtatagtcggAGATCGAGACCCGACGC chr2:47439736-Reference-G;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Alternative T acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa ACAACGTCCTGG CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaTactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAacaacgtcctggAGATCGAGACCCGACGC chr2:47439736-Alternative-T;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Reference G acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa CTCTGAACGTAA CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAActctgaacgtaaAGATCGAGACCCGACGC chr2:47439736-Reference-G;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Reference G acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa ACCAACCACAAC CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAAaccaaccacaacAGATCGAGACCCGACGC chr2:47439736-Reference-G;Patient-79 chr2:47439736-GA DeNovo Patient-79 intergenic 0.000902 0.00205 -0.07 1.65 -0.57 CALM2 35995 Reference G acaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaa CTCTCGATCTGG CGACGCGGTCTCTCTCTacaaacaattagccagtcccactgcactccaggctaggcaacaggagtgaGactctatctcaaaaaaaaaaaaaacaaaacaaaaaaaaaaaacgttaaaAGAGGGAGACGGACGTCTCAATAActctcgatctggAGATCGAGACCCGACGC chr2:47439736-Reference-G;Patient-79 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Reference C gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GAGGTTATAACG CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAgaggttataacgAGATCGAGACCCGACGC chr2:47450748-Reference-C;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Reference C gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GAGATCCTAGAA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAgagatcctagaaAGATCGAGACCCGACGC chr2:47450748-Reference-C;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Reference C gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GGTATCAGGTAA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAggtatcaggtaaAGATCGAGACCCGACGC chr2:47450748-Reference-C;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Reference C gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa ATACCATACGGT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAataccatacggtAGATCGAGACCCGACGC chr2:47450748-Reference-C;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Reference C gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GAGGTTAGATAC CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaCgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAgaggttagatacAGATCGAGACCCGACGC chr2:47450748-Reference-C;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative A gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GGTGTTACCGCA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAggtgttaccgcaAGATCGAGACCCGACGC chr2:47450748-Alternative-A;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative A gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GGATAGTGGTAT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAggatagtggtatAGATCGAGACCCGACGC chr2:47450748-Alternative-A;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative A gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CAGCACAACGAG CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAcagcacaacgagAGATCGAGACCCGACGC chr2:47450748-Alternative-A;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative A gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GCGTGTTCATAA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAgcgtgttcataaAGATCGAGACCCGACGC chr2:47450748-Alternative-A;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative A gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GACTACAACGTT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaAgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAgactacaacgttAGATCGAGACCCGACGC chr2:47450748-Alternative-A;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Variant T gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CAACAATGTACG CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAcaacaatgtacgAGATCGAGACCCGACGC chr2:47450748-Variant-T;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Variant T gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CGACAGCGTTGT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAcgacagcgttgtAGATCGAGACCCGACGC chr2:47450748-Variant-T;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Variant T gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CGCCAAGTACGA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAcgccaagtacgaAGATCGAGACCCGACGC chr2:47450748-Variant-T;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Variant T gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CGCACGTTCACA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAcgcacgttcacaAGATCGAGACCCGACGC chr2:47450748-Variant-T;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Variant T gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa ACACGGTTACAC CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaTgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAacacggttacacAGATCGAGACCCGACGC chr2:47450748-Variant-T;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative G gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa CTCGGCTGAGAT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAActcggctgagatAGATCGAGACCCGACGC chr2:47450748-Alternative-G;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative G gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa AGATCCGGAACT CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAagatccggaactAGATCGAGACCCGACGC chr2:47450748-Alternative-G;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative G gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa AAGAATGGCGAA CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAaagaatggcgaaAGATCGAGACCCGACGC chr2:47450748-Alternative-G;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative G gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa ATTGTGGATTCG CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAattgtggattcgAGATCGAGACCCGACGC chr2:47450748-Alternative-G;Patient-30 chr2:47450748-CT Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CALM2 47007 Alternative G gctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaa GGTACGGAACAC CGACGCGGTCTCTCTCTgctttcgaaacaagccataaggagtaaatgtggccgggtgcggtggcttaGgcctgtaatcccagcaatttgggaggccaaggcaggaggatcttttgaaAGAGGGAGACGGACGTCTCAATAAggtacggaacacAGATCGAGACCCGACGC chr2:47450748-Alternative-G;Patient-30 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Reference G caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GTCGCTACTCGT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAgtcgctactcgtAGATCGAGACCCGACGC chr2:47592944-Reference-G;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Reference G caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CGACCACAGGAT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAcgaccacaggatAGATCGAGACCCGACGC chr2:47592944-Reference-G;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Variant T caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CTTGCATCAACT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAActtgcatcaactAGATCGAGACCCGACGC chr2:47592944-Variant-T;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative A caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CTCTAAGGATGG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAActctaaggatggAGATCGAGACCCGACGC chr2:47592944-Alternative-A;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Variant T caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt ACCTACTCTGGT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAacctactctggtAGATCGAGACCCGACGC chr2:47592944-Variant-T;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative A caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GCAGCAGCATTC CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAgcagcagcattcAGATCGAGACCCGACGC chr2:47592944-Alternative-A;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Reference G caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GGAAGTACACAC CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAggaagtacacacAGATCGAGACCCGACGC chr2:47592944-Reference-G;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Reference G caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GGATCAACACAT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAggatcaacacatAGATCGAGACCCGACGC chr2:47592944-Reference-G;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative A caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CGTGTCGTTCGT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAcgtgtcgttcgtAGATCGAGACCCGACGC chr2:47592944-Alternative-A;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Variant T caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CAAGCGGTTAGG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAcaagcggttaggAGATCGAGACCCGACGC chr2:47592944-Variant-T;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative C caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GATGAAGCGTCC CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAgatgaagcgtccAGATCGAGACCCGACGC chr2:47592944-Alternative-C;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative A caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CAGCTTGGCGTT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAcagcttggcgttAGATCGAGACCCGACGC chr2:47592944-Alternative-A;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative A caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GGCGTCGTTGAT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgAgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAggcgtcgttgatAGATCGAGACCCGACGC chr2:47592944-Alternative-A;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Variant T caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GGTTACTATGGT CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAggttactatggtAGATCGAGACCCGACGC chr2:47592944-Variant-T;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Variant T caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CTGCTCATGACC CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgTgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAActgctcatgaccAGATCGAGACCCGACGC chr2:47592944-Variant-T;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Reference G caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GACTGGAATCGG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgGgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAgactggaatcggAGATCGAGACCCGACGC chr2:47592944-Reference-G;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative C caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt CGCATAATAACG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAcgcataataacgAGATCGAGACCCGACGC chr2:47592944-Alternative-C;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative C caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt ACACTGTTAAGG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAacactgttaaggAGATCGAGACCCGACGC chr2:47592944-Alternative-C;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative C caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt GTTGATTGTACG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAgttgattgtacgAGATCGAGACCCGACGC chr2:47592944-Alternative-C;Patient-37 chr2:47592944-GT Inherited Patient-37 intergenic 0.000265 0.00154 -0.11 1.3 0.38 MSH2 37261 Alternative C caaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgt ATACCGCGTTCG CGACGCGGTCTCTCTCTcaaactcctgacctcaagtgatccacccgctttggcctcccaaagtgctgCgattacaggcgtgagccaccatgcctagcctgaaaatattaataaatgtAGAGGGAGACGGACGTCTCAATAAataccgcgttcgAGATCGAGACCCGACGC chr2:47592944-Alternative-C;Patient-37 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative C tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc AAGCAAGTTCGA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAaagcaagttcgaAGATCGAGACCCGACGC chr2:47954874-Alternative-C;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative C tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc AATACTAACGCG CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAaatactaacgcgAGATCGAGACCCGACGC chr2:47954874-Alternative-C;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative C tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc ATCTGGTTCGAA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAatctggttcgaaAGATCGAGACCCGACGC chr2:47954874-Alternative-C;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative C tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc GTCGACTAGAAG CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAgtcgactagaagAGATCGAGACCCGACGC chr2:47954874-Alternative-C;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative C tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CTCTAATGAGCA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcCcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAActctaatgagcaAGATCGAGACCCGACGC chr2:47954874-Alternative-C;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Variant A tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc ATCGCTATCCGG CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAatcgctatccggAGATCGAGACCCGACGC chr2:47954874-Variant-A;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Variant A tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CTCTTAGCTAAC CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAActcttagctaacAGATCGAGACCCGACGC chr2:47954874-Variant-A;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Variant A tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc AACGATAGCCAA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAaacgatagccaaAGATCGAGACCCGACGC chr2:47954874-Variant-A;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Variant A tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CGCAATTGAACT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAcgcaattgaactAGATCGAGACCCGACGC chr2:47954874-Variant-A;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Variant A tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CTGAGTTGTTCT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcAcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAActgagttgttctAGATCGAGACCCGACGC chr2:47954874-Variant-A;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative T tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc GTTGTGCTGAAT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAgttgtgctgaatAGATCGAGACCCGACGC chr2:47954874-Alternative-T;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative T tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CGAACTCCGTCT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAcgaactccgtctAGATCGAGACCCGACGC chr2:47954874-Alternative-T;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative T tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc GCAACATCATCA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAgcaacatcatcaAGATCGAGACCCGACGC chr2:47954874-Alternative-T;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative T tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc GACTAAGCTGAT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAgactaagctgatAGATCGAGACCCGACGC chr2:47954874-Alternative-T;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Alternative T tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc ACTCGCCTAACT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcTcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAactcgcctaactAGATCGAGACCCGACGC chr2:47954874-Alternative-T;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Reference G tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CGTTGGTCATGG CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAcgttggtcatggAGATCGAGACCCGACGC chr2:47954874-Reference-G;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Reference G tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc GGATCGAACCTT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAggatcgaaccttAGATCGAGACCCGACGC chr2:47954874-Reference-G;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Reference G tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc AGGCGAGTTGAG CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAaggcgagttgagAGATCGAGACCCGACGC chr2:47954874-Reference-G;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Reference G tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CGGTGATCGCAT CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAAcggtgatcgcatAGATCGAGACCCGACGC chr2:47954874-Reference-G;Patient-30 chr2:47954874-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA MSH6 55346 Reference G tactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattc CTGAGAATGACA CGACGCGGTCTCTCTCTtactggaaaggggtcccaatccaggccctaagacgatgttcttggatctcGcacaataaagaatttgaggtgaatccataaagtgaaagcaagtttattcAGAGGGAGACGGACGTCTCAATAActgagaatgacaAGATCGAGACCCGACGC chr2:47954874-Reference-G;Patient-30 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Reference T gacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GCAAGAGTGCGA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAgcaagagtgcgaAGATCGAGACCCGACGC chr2:48104211-Reference-T;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative G gacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AGCAAGGCGAAC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAagcaaggcgaacAGATCGAGACCCGACGC chr2:48104211-Alternative-G;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative A gacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg CAGTAGTCAATC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAcagtagtcaatcAGATCGAGACCCGACGC chr2:48104211-Alternative-A;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Reference T gacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg ATAACAACGTGG CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAataacaacgtggAGATCGAGACCCGACGC chr2:48104211-Reference-T;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative A gacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AATCGTCGGCGT CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAaatcgtcggcgtAGATCGAGACCCGACGC chr2:48104211-Alternative-A;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative G gacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg ACCAATGTTGAG CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAaccaatgttgagAGATCGAGACCCGACGC chr2:48104211-Alternative-G;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Reference T gacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AGTGACGGTATA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAagtgacggtataAGATCGAGACCCGACGC chr2:48104211-Reference-T;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative A gacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AAGAACCGTCTA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAaagaaccgtctaAGATCGAGACCCGACGC chr2:48104211-Alternative-A;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative G gacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GGTACTACTAAC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAggtactactaacAGATCGAGACCCGACGC chr2:48104211-Alternative-G;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative G gacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AGCGCGACATTA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAagcgcgacattaAGATCGAGACCCGACGC chr2:48104211-Alternative-G;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Reference T gacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AATGCCTGTCGC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAaatgcctgtcgcAGATCGAGACCCGACGC chr2:48104211-Reference-T;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative G gacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GAGTATAGCAGT CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgGtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAgagtatagcagtAGATCGAGACCCGACGC chr2:48104211-Alternative-G;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Reference T gacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg ATCGTCGCGCTA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgTtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAatcgtcgcgctaAGATCGAGACCCGACGC chr2:48104211-Reference-T;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Variant C gacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AATGCGAAGTCA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAaatgcgaagtcaAGATCGAGACCCGACGC chr2:48104211-Variant-C;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative A gacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GACATTCGAATC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAgacattcgaatcAGATCGAGACCCGACGC chr2:48104211-Alternative-A;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Variant C gacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GCGTATAATACG CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAgcgtataatacgAGATCGAGACCCGACGC chr2:48104211-Variant-C;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Variant C gacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg CTGAGTTGAGAA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAActgagttgagaaAGATCGAGACCCGACGC chr2:48104211-Variant-C;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Variant C gacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg CGGCGAGTGTTA CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAcggcgagtgttaAGATCGAGACCCGACGC chr2:48104211-Variant-C;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Variant C gacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg AGTGTAGGTCGC CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgCtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAagtgtaggtcgcAGATCGAGACCCGACGC chr2:48104211-Variant-C;Patient-33 chr2:48104211-TC DeNovo Patient-33 intronic FBXO11 NA 4.95e-05 NA NA NA FBXO11 28720 Alternative A gacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctgg GATAGGTACAGT CGACGCGGTCTCTCTCTgacatcttacttaatacagggttttttttttttgagagggtcttgctctgAtgccctggctgtagtgcaatcatggctcactgcagcctcaacctcctggAGAGGGAGACGGACGTCTCAATAAgataggtacagtAGATCGAGACCCGACGC chr2:48104211-Alternative-A;Patient-33 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative C atatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatac GGCGCAAGAATT CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAggcgcaagaattAGATCGAGACCCGACGC chr2:48128013-Alternative-C;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative T atatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatac GCAGTTGGACAG CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgcagttggacagAGATCGAGACCCGACGC chr2:48128013-Alternative-T;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Reference G atatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatac GGTCATGAGTGG CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAggtcatgagtggAGATCGAGACCCGACGC chr2:48128013-Reference-G;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative T atatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatac GAATAATCGCGA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgaataatcgcgaAGATCGAGACCCGACGC chr2:48128013-Alternative-T;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Reference G atatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatac GATGTTCTAGGT CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgatgttctaggtAGATCGAGACCCGACGC chr2:48128013-Reference-G;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Reference G atatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatac CGACACGATAGT CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAcgacacgatagtAGATCGAGACCCGACGC chr2:48128013-Reference-G;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative T atatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatac ACTGAGTCCATA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAactgagtccataAGATCGAGACCCGACGC chr2:48128013-Alternative-T;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative T atatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatac GGCCATAAGCCA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAggccataagccaAGATCGAGACCCGACGC chr2:48128013-Alternative-T;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative C atatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatac CGTGTGTCACGA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAcgtgtgtcacgaAGATCGAGACCCGACGC chr2:48128013-Alternative-C;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Reference G atatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatac GTCTAGTAGCGG CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgtctagtagcggAGATCGAGACCCGACGC chr2:48128013-Reference-G;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Reference G atatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatac GTGTTCGTCGCT CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacGtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgtgttcgtcgctAGATCGAGACCCGACGC chr2:48128013-Reference-G;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative C atatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatac AGCCGACCAACT CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAagccgaccaactAGATCGAGACCCGACGC chr2:48128013-Alternative-C;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Variant A atatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatac GGTATTCAACCA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAggtattcaaccaAGATCGAGACCCGACGC chr2:48128013-Variant-A;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative C atatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatac GTCTCGCGCTTA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgtctcgcgcttaAGATCGAGACCCGACGC chr2:48128013-Alternative-C;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Variant A atatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatac ACGTCGTCTGAG CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAacgtcgtctgagAGATCGAGACCCGACGC chr2:48128013-Variant-A;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Variant A atatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatac CGTCTAATAACG CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAcgtctaataacgAGATCGAGACCCGACGC chr2:48128013-Variant-A;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative T atatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatac CTCATGATAGCA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacTtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAActcatgatagcaAGATCGAGACCCGACGC chr2:48128013-Alternative-T;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Variant A atatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatac ATCGAAGAGTCA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAatcgaagagtcaAGATCGAGACCCGACGC chr2:48128013-Variant-A;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Alternative C atatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatac GAGTCAAGCGTC CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacCtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAgagtcaagcgtcAGATCGAGACCCGACGC chr2:48128013-Alternative-C;Patient-82 chr2:48128013-GA DeNovo Patient-82 intronic FBXO11 6.3e-05 0.00826 -0.18 0.82 0 FBXO11 4918 Variant A atatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatac CGTACGTGATGA CGACGCGGTCTCTCTCTatatacacgtatacacacacgtgtatatatatacacgtatacacacacacAtgtatatatatacacgtatatatacacacatatatatgtatatatatacAGAGGGAGACGGACGTCTCAATAAcgtacgtgatgaAGATCGAGACCCGACGC chr2:48128013-Variant-A;Patient-82 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative T aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AATAGCGACCGT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAaatagcgaccgtAGATCGAGACCCGACGC chr2:54362939-Alternative-T;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative T aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa GGTAGGTACGAA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAggtaggtacgaaAGATCGAGACCCGACGC chr2:54362939-Alternative-T;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative T aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa ATAGCACAACCT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAatagcacaacctAGATCGAGACCCGACGC chr2:54362939-Alternative-T;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative T aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa GCCTGAAGAATA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAgcctgaagaataAGATCGAGACCCGACGC chr2:54362939-Alternative-T;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Variant C aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa CGCATTGATGAT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAcgcattgatgatAGATCGAGACCCGACGC chr2:54362939-Variant-C;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Variant C aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa ACTTCAGTACCT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAacttcagtacctAGATCGAGACCCGACGC chr2:54362939-Variant-C;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Variant C aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa CATTGTGTCTAC CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAcattgtgtctacAGATCGAGACCCGACGC chr2:54362939-Variant-C;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative A aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa CGATGTAATTCG CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAcgatgtaattcgAGATCGAGACCCGACGC chr2:54362939-Alternative-A;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Reference G aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGTCGTACAGAA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAagtcgtacagaaAGATCGAGACCCGACGC chr2:54362939-Reference-G;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative T aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGGACACCACAT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacTgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAaggacaccacatAGATCGAGACCCGACGC chr2:54362939-Alternative-T;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Reference G aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa CACACGTAACGC CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAcacacgtaacgcAGATCGAGACCCGACGC chr2:54362939-Reference-G;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Reference G aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGACCACAAGCA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAagaccacaagcaAGATCGAGACCCGACGC chr2:54362939-Reference-G;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Variant C aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AATGACTCCGAT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAaatgactccgatAGATCGAGACCCGACGC chr2:54362939-Variant-C;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative A aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa GGTATTGCCGCA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAggtattgccgcaAGATCGAGACCCGACGC chr2:54362939-Alternative-A;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative A aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa GACAACAGATGG CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAgacaacagatggAGATCGAGACCCGACGC chr2:54362939-Alternative-A;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Reference G aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGATACGCAACA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAagatacgcaacaAGATCGAGACCCGACGC chr2:54362939-Reference-G;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative A aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGGCGCCACTAA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAaggcgccactaaAGATCGAGACCCGACGC chr2:54362939-Alternative-A;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Variant C aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa AGGAACCTCCGA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacCgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAaggaacctccgaAGATCGAGACCCGACGC chr2:54362939-Variant-C;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Alternative A aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa GGTCGGAGAGAT CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacAgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAggtcggagagatAGATCGAGACCCGACGC chr2:54362939-Alternative-A;Patient-55 chr2:54362939-GC DeNovo Patient-55 intronic ACYP2 NA 4.95e-05 -0.11 1.29 -1.54 ACYP2 20528 Reference G aagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaa ATACCGGTTCAA CGACGCGGTCTCTCTCTaagtatgggactttctacatgttctggatggaagaaatcctctaggcaacGgtacatatgttgcactgcaaaacaaaacacgctaatgttgcataatgaaAGAGGGAGACGGACGTCTCAATAAataccggttcaaAGATCGAGACCCGACGC chr2:54362939-Reference-G;Patient-55 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Reference C cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag CGTAACAACCGG CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAcgtaacaaccggAGATCGAGACCCGACGC chr2:54643920-Reference-C;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Reference C cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GAATTACCGCGA CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAgaattaccgcgaAGATCGAGACCCGACGC chr2:54643920-Reference-C;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Reference C cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ATTCCACGCTTA CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAattccacgcttaAGATCGAGACCCGACGC chr2:54643920-Reference-C;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Reference C cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GGTCATGTTCTT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAggtcatgttcttAGATCGAGACCCGACGC chr2:54643920-Reference-C;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative T cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GCAAGCCGATAC CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAgcaagccgatacAGATCGAGACCCGACGC chr2:54643920-Alternative-T;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative A cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ACGCGTACTCGT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAacgcgtactcgtAGATCGAGACCCGACGC chr2:54643920-Alternative-A;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative A cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag AACGATACTACC CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAaacgatactaccAGATCGAGACCCGACGC chr2:54643920-Alternative-A;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Variant G cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag AGTAGGTGGATT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAagtaggtggattAGATCGAGACCCGACGC chr2:54643920-Variant-G;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative A cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GGTAAGCCGGTT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAggtaagccggttAGATCGAGACCCGACGC chr2:54643920-Alternative-A;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative T cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ACGCGAGATGCT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAacgcgagatgctAGATCGAGACCCGACGC chr2:54643920-Alternative-T;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative A cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GCGATCTCGACT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAgcgatctcgactAGATCGAGACCCGACGC chr2:54643920-Alternative-A;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Variant G cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ACGCGGTATAAT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAacgcggtataatAGATCGAGACCCGACGC chr2:54643920-Variant-G;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative T cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ACAGCGACTAGT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAacagcgactagtAGATCGAGACCCGACGC chr2:54643920-Alternative-T;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative T cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag AAGAACGAACAG CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAaagaacgaacagAGATCGAGACCCGACGC chr2:54643920-Alternative-T;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Variant G cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag AATCGAACGAAC CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAaatcgaacgaacAGATCGAGACCCGACGC chr2:54643920-Variant-G;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Reference C cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ACCACATACGCA CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtCgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAaccacatacgcaAGATCGAGACCCGACGC chr2:54643920-Reference-C;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Variant G cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag AGAGTCAAGACG CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAagagtcaagacgAGATCGAGACCCGACGC chr2:54643920-Variant-G;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative A cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag GTGCGAGCATCA CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtAgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAgtgcgagcatcaAGATCGAGACCCGACGC chr2:54643920-Alternative-A;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Variant G cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag CGTCTATAACGA CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtGgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAcgtctataacgaAGATCGAGACCCGACGC chr2:54643920-Variant-G;Patient-32 chr2:54643920-CG DeNovo Patient-32 intergenic NA 0.000512821 -0.2 0.71 -5.92 SPTBN1 39533 Alternative T cccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggag ATCCTCGACCAT CGACGCGGTCTCTCTCTcccagcctcctgataaactgctaagtgaagatggggaggagccatcacgtTgcgttgatagaatagacacagaggggacttggtgatgtattaggaggagAGAGGGAGACGGACGTCTCAATAAatcctcgaccatAGATCGAGACCCGACGC chr2:54643920-Alternative-T;Patient-32 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative T gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa CTACGCCGGTAT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAActacgccggtatAGATCGAGACCCGACGC chr2:55241232-Alternative-T;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Reference A gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa AGCTCACCGCAT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAagctcaccgcatAGATCGAGACCCGACGC chr2:55241232-Reference-A;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Reference A gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GCGTAACGACAC CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAgcgtaacgacacAGATCGAGACCCGACGC chr2:55241232-Reference-A;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative T gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa AGTAGGTCGAAT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAagtaggtcgaatAGATCGAGACCCGACGC chr2:55241232-Alternative-T;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative T gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ACTCTACTATCG CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAactctactatcgAGATCGAGACCCGACGC chr2:55241232-Alternative-T;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Reference A gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ACTCGGCATACG CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAactcggcatacgAGATCGAGACCCGACGC chr2:55241232-Reference-A;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Reference A gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ATAGGTACTGCT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAataggtactgctAGATCGAGACCCGACGC chr2:55241232-Reference-A;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Reference A gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GGATCGCGTCAA CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaAtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAggatcgcgtcaaAGATCGAGACCCGACGC chr2:55241232-Reference-A;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative C gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ATTACCGGCCGT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAattaccggccgtAGATCGAGACCCGACGC chr2:55241232-Alternative-C;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Variant G gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GGTGGAGTACGT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAggtggagtacgtAGATCGAGACCCGACGC chr2:55241232-Variant-G;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Variant G gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa CAGATGCGTAAT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAcagatgcgtaatAGATCGAGACCCGACGC chr2:55241232-Variant-G;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative T gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa AAGGCGACACAG CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAaaggcgacacagAGATCGAGACCCGACGC chr2:55241232-Alternative-T;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative T gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ATAGACGAACGG CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaTtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAatagacgaacggAGATCGAGACCCGACGC chr2:55241232-Alternative-T;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Variant G gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GTAGATGCAACA CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAgtagatgcaacaAGATCGAGACCCGACGC chr2:55241232-Variant-G;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative C gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GATCAACGACGG CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAgatcaacgacggAGATCGAGACCCGACGC chr2:55241232-Alternative-C;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative C gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa CGTTCGGCGATA CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAcgttcggcgataAGATCGAGACCCGACGC chr2:55241232-Alternative-C;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Variant G gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GGACGAATACGT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAggacgaatacgtAGATCGAGACCCGACGC chr2:55241232-Variant-G;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative C gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GCGCTAACCGAT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAgcgctaaccgatAGATCGAGACCCGACGC chr2:55241232-Alternative-C;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Variant G gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa ACCAATTCGTGA CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaGtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAaccaattcgtgaAGATCGAGACCCGACGC chr2:55241232-Variant-G;Patient-57 chr2:55241232-AG DeNovo Patient-57 intronic RTN4 0.000223 4.95e-05 0.18 5.56 1.37 RTN4 36501 Alternative C gagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaa GACCAACGGAGT CGACGCGGTCTCTCTCTgagctacacaaaggtatgaaattaacatgtttcaatactgaaaggagttaCtttttaaaaccctaccatatgctgtaatataatgccctctatggactaaAGAGGGAGACGGACGTCTCAATAAgaccaacggagtAGATCGAGACCCGACGC chr2:55241232-Alternative-C;Patient-57 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative G attaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca AATAGCACACGA CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAaatagcacacgaAGATCGAGACCCGACGC chr2:55565153-Alternative-G;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative G attaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca AACGTGTTACCA CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAaacgtgttaccaAGATCGAGACCCGACGC chr2:55565153-Alternative-G;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative G attaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca ACGTAGAGGATT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAacgtagaggattAGATCGAGACCCGACGC chr2:55565153-Alternative-G;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative G attaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca AACGGCCATGCT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAaacggccatgctAGATCGAGACCCGACGC chr2:55565153-Alternative-G;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative G attaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca CGCGCACTATGA CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaGtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAcgcgcactatgaAGATCGAGACCCGACGC chr2:55565153-Alternative-G;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Reference T attaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GTGTAGATCGTT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgtgtagatcgttAGATCGAGACCCGACGC chr2:55565153-Reference-T;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Reference T attaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca ATATGGATCGGT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAatatggatcggtAGATCGAGACCCGACGC chr2:55565153-Reference-T;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Reference T attaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GTGACTTACGGC CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgtgacttacggcAGATCGAGACCCGACGC chr2:55565153-Reference-T;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Reference T attaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca CGCTCCAACTAT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAcgctccaactatAGATCGAGACCCGACGC chr2:55565153-Reference-T;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative A attaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca AGTTAGCGTGCG CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAagttagcgtgcgAGATCGAGACCCGACGC chr2:55565153-Alternative-A;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative A attaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca CGATTGACCGCA CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAcgattgaccgcaAGATCGAGACCCGACGC chr2:55565153-Alternative-A;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative A attaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca AGCCGATCCGAT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAagccgatccgatAGATCGAGACCCGACGC chr2:55565153-Alternative-A;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Reference T attaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GTACTTAACGGT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaTtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgtacttaacggtAGATCGAGACCCGACGC chr2:55565153-Reference-T;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative A attaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca CGTTAGTTACGT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAcgttagttacgtAGATCGAGACCCGACGC chr2:55565153-Alternative-A;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Variant C attaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca ACAATGCGTGTT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAacaatgcgtgttAGATCGAGACCCGACGC chr2:55565153-Variant-C;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Alternative A attaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca ACTCACACGCAT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaAtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAactcacacgcatAGATCGAGACCCGACGC chr2:55565153-Alternative-A;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Variant C attaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GATGATCAGCTT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgatgatcagcttAGATCGAGACCCGACGC chr2:55565153-Variant-C;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Variant C attaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca ACGCAGAATCAA CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAacgcagaatcaaAGATCGAGACCCGACGC chr2:55565153-Variant-C;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Variant C attaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GTGTACGTCGGT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgtgtacgtcggtAGATCGAGACCCGACGC chr2:55565153-Variant-C;Patient-54 chr2:55565153-TC Inherited Patient-54 intronic CCDC88A 0.000669 0.000247 -0.24 0.56 -2.52 CCDC88A 81903 Variant C attaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattca GCGGCTCATTCT CGACGCGGTCTCTCTCTattaatcaggttctcacattacatagatggaaatataagaataacaattaCtgaaactcatttgttgttttgtatcaatgggattaaagtgaaacattcaAGAGGGAGACGGACGTCTCAATAAgcggctcattctAGATCGAGACCCGACGC chr2:55565153-Variant-C;Patient-54 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Reference G tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GCGGATTCGTGT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgcggattcgtgtAGATCGAGACCCGACGC chr2:55658961-Reference-G;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Reference G tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa AAGTACGCGAAC CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAaagtacgcgaacAGATCGAGACCCGACGC chr2:55658961-Reference-G;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Reference G tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GTTACACGAACG CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgttacacgaacgAGATCGAGACCCGACGC chr2:55658961-Reference-G;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Reference G tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa CATGTCGTTCAT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAcatgtcgttcatAGATCGAGACCCGACGC chr2:55658961-Reference-G;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Variant A tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa AAGTTCATTCGG CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAaagttcattcggAGATCGAGACCCGACGC chr2:55658961-Variant-A;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Variant A tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa ATCGCTTGACTA CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAatcgcttgactaAGATCGAGACCCGACGC chr2:55658961-Variant-A;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Reference G tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GATATCGAACGC CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacGtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgatatcgaacgcAGATCGAGACCCGACGC chr2:55658961-Reference-G;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative T tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa CACATCGTTCAT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAcacatcgttcatAGATCGAGACCCGACGC chr2:55658961-Alternative-T;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative T tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa ATAGGCGTATGT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAataggcgtatgtAGATCGAGACCCGACGC chr2:55658961-Alternative-T;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Variant A tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GGCTCTTAGTGG CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAggctcttagtggAGATCGAGACCCGACGC chr2:55658961-Variant-A;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative T tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GGTCTTGTGCAG CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAggtcttgtgcagAGATCGAGACCCGACGC chr2:55658961-Alternative-T;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative T tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa AACGCTACCTTC CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAaacgctaccttcAGATCGAGACCCGACGC chr2:55658961-Alternative-T;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative T tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GCAACCGTTGCT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacTtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgcaaccgttgctAGATCGAGACCCGACGC chr2:55658961-Alternative-T;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Variant A tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GCAGAACGCATT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgcagaacgcattAGATCGAGACCCGACGC chr2:55658961-Variant-A;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative C tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa CAACGCCGTACT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAcaacgccgtactAGATCGAGACCCGACGC chr2:55658961-Alternative-C;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Variant A tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa ACACAGATATCG CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacAtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAacacagatatcgAGATCGAGACCCGACGC chr2:55658961-Variant-A;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative C tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa GCAATCGACCGT CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAgcaatcgaccgtAGATCGAGACCCGACGC chr2:55658961-Alternative-C;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative C tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa ATACGTATCGAC CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAatacgtatcgacAGATCGAGACCCGACGC chr2:55658961-Alternative-C;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative C tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa CTTGAACCGATA CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAActtgaaccgataAGATCGAGACCCGACGC chr2:55658961-Alternative-C;Patient-28 chr2:55658961-GA DeNovo Patient-28 intergenic 0.000541 0.00205 -0.04 2.03 -2.58 CCDC88A 11903 Alternative C tcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaa CGATCAAGGAGA CGACGCGGTCTCTCTCTtcaaggtatagaagagtatattgtgtctgaggagccatgagtagcttgacCtggctaaagaagtttccaaatgtggacaatggtgagaaatgaaagttaaAGAGGGAGACGGACGTCTCAATAAcgatcaaggagaAGATCGAGACCCGACGC chr2:55658961-Alternative-C;Patient-28 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Variant C taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GGTGACGGAATC CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAggtgacggaatcAGATCGAGACCCGACGC chr2:56162931-Variant-C;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative T taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaact ATCGTGTCGGCA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAatcgtgtcggcaAGATCGAGACCCGACGC chr2:56162931-Alternative-T;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Variant C taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GGTTGATATGAG CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAggttgatatgagAGATCGAGACCCGACGC chr2:56162931-Variant-C;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Reference A taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GTGTTCGCCAAT CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgtgttcgccaatAGATCGAGACCCGACGC chr2:56162931-Reference-A;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Reference A taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GAGTAACTAACG CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgagtaactaacgAGATCGAGACCCGACGC chr2:56162931-Reference-A;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative G taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaact AATGGTCAACGC CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAaatggtcaacgcAGATCGAGACCCGACGC chr2:56162931-Alternative-G;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative T taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaact CACGATGCGCAA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAcacgatgcgcaaAGATCGAGACCCGACGC chr2:56162931-Alternative-T;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Variant C taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaact ATAGACGGCGGT CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAatagacggcggtAGATCGAGACCCGACGC chr2:56162931-Variant-C;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative T taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaact CGTCGTGTCTGT CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAcgtcgtgtctgtAGATCGAGACCCGACGC chr2:56162931-Alternative-T;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Reference A taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GCAATCAGATCG CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgcaatcagatcgAGATCGAGACCCGACGC chr2:56162931-Reference-A;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Reference A taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GTAGGTCGGTAC CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgtaggtcggtacAGATCGAGACCCGACGC chr2:56162931-Reference-A;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative G taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GATACTTGGTCA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgatacttggtcaAGATCGAGACCCGACGC chr2:56162931-Alternative-G;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Variant C taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GCGTGGTGTATC CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgcgtggtgtatcAGATCGAGACCCGACGC chr2:56162931-Variant-C;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Variant C taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaact CAACACGTTCAA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggCtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAcaacacgttcaaAGATCGAGACCCGACGC chr2:56162931-Variant-C;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Reference A taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaact GAGCCTTAACAG CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggAtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAgagccttaacagAGATCGAGACCCGACGC chr2:56162931-Reference-A;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative T taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaact CAAGTACAAGCT CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAcaagtacaagctAGATCGAGACCCGACGC chr2:56162931-Alternative-T;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative G taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaact AGAATCACGTGA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAagaatcacgtgaAGATCGAGACCCGACGC chr2:56162931-Alternative-G;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative T taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaact ACTGGCGAAGCT CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggTtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAactggcgaagctAGATCGAGACCCGACGC chr2:56162931-Alternative-T;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative G taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaact ATCGTGCGGAAC CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAatcgtgcggaacAGATCGAGACCCGACGC chr2:56162931-Alternative-G;Patient-41 chr2:56162931-AC DeNovo Patient-41 intergenic NA 0.000512821 0.02 3 0.7 EFEMP1 11632 Alternative G taagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaact AGCTCCGTAGCA CGACGCGGTCTCTCTCTtaagaagctgtggtttcattgaagaatctcacagaatgcacaacacaaggGtattgtcaataaaactgcttcctttatcccattcccttgttaattaactAGAGGGAGACGGACGTCTCAATAAagctccgtagcaAGATCGAGACCCGACGC chr2:56162931-Alternative-G;Patient-41 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative G tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AGACTACGGTGG CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAagactacggtggAGATCGAGACCCGACGC chr2:56508419-Alternative-G;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative T tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ACGAGCTCACTT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAacgagctcacttAGATCGAGACCCGACGC chr2:56508419-Alternative-T;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative T tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt CGCGACTGATGA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAcgcgactgatgaAGATCGAGACCCGACGC chr2:56508419-Alternative-T;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative G tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AGCGCTCGTGAA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAagcgctcgtgaaAGATCGAGACCCGACGC chr2:56508419-Alternative-G;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative T tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt GGAGGTCAGCTA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAggaggtcagctaAGATCGAGACCCGACGC chr2:56508419-Alternative-T;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Reference A tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt CGCTAATCGGAC CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAcgctaatcggacAGATCGAGACCCGACGC chr2:56508419-Reference-A;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Variant C tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ATCTGCGAGTAT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAatctgcgagtatAGATCGAGACCCGACGC chr2:56508419-Variant-C;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Reference A tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt GGCGTATATTCT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAggcgtatattctAGATCGAGACCCGACGC chr2:56508419-Reference-A;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Reference A tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt GGTAATCGTATC CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAggtaatcgtatcAGATCGAGACCCGACGC chr2:56508419-Reference-A;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Variant C tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ACAACGCCTAGT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAacaacgcctagtAGATCGAGACCCGACGC chr2:56508419-Variant-C;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative T tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt GTTCGTTACGTT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAgttcgttacgttAGATCGAGACCCGACGC chr2:56508419-Alternative-T;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Variant C tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ATCTATGCGTGA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAatctatgcgtgaAGATCGAGACCCGACGC chr2:56508419-Variant-C;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative G tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ACGTGAAGGTCG CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAacgtgaaggtcgAGATCGAGACCCGACGC chr2:56508419-Alternative-G;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Variant C tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt CACAGCACCAAT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAcacagcaccaatAGATCGAGACCCGACGC chr2:56508419-Variant-C;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative G tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AAGCAGGTCTTC CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAaagcaggtcttcAGATCGAGACCCGACGC chr2:56508419-Alternative-G;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative T tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt GCCAACCGAGAA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaTatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAgccaaccgagaaAGATCGAGACCCGACGC chr2:56508419-Alternative-T;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Reference A tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AGTATTCGCCAA CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAagtattcgccaaAGATCGAGACCCGACGC chr2:56508419-Reference-A;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Reference A tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt ACTAGCCGATAT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaAatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAactagccgatatAGATCGAGACCCGACGC chr2:56508419-Reference-A;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Alternative G tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AATGATAGCGAC CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaGatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAaatgatagcgacAGATCGAGACCCGACGC chr2:56508419-Alternative-G;Patient-75 chr2:56508419-AC DeNovo Patient-75 intronic CCDC85A NA 4.95e-05 -0.51 0.08 -0.19 CCDC85A 97160 Variant C tttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgt AGCAACATAGGT CGACGCGGTCTCTCTCTtttgagattaagccatgttgttgcatgtattatctgttcattttttaaaaCatattttttctattcaaatgtgtaccaatttgtttatatacggttttgtAGAGGGAGACGGACGTCTCAATAAagcaacataggtAGATCGAGACCCGACGC chr2:56508419-Variant-C;Patient-75 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative A tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CGTAGTTGTAGT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcgtagttgtagtAGATCGAGACCCGACGC chr2:58497124-Alternative-A;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Variant C tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt GCGAACTCTGCT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAgcgaactctgctAGATCGAGACCCGACGC chr2:58497124-Variant-C;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Variant C tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CGTCTATAGCGG CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcgtctatagcggAGATCGAGACCCGACGC chr2:58497124-Variant-C;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative A tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CTAATCTGCGTT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAActaatctgcgttAGATCGAGACCCGACGC chr2:58497124-Alternative-A;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Variant C tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CGGACTCATGCT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcggactcatgctAGATCGAGACCCGACGC chr2:58497124-Variant-C;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative A tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt ACCTTGAGCCAT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAaccttgagccatAGATCGAGACCCGACGC chr2:58497124-Alternative-A;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative T tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt GAATAACGATGC CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAgaataacgatgcAGATCGAGACCCGACGC chr2:58497124-Alternative-T;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Reference G tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt GGTATCGTATGT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAggtatcgtatgtAGATCGAGACCCGACGC chr2:58497124-Reference-G;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative T tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt ACCATTATTGCG CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAaccattattgcgAGATCGAGACCCGACGC chr2:58497124-Alternative-T;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Reference G tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt ACTCCTATGACC CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAactcctatgaccAGATCGAGACCCGACGC chr2:58497124-Reference-G;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Reference G tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt AGCACCAAGTAA CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAagcaccaagtaaAGATCGAGACCCGACGC chr2:58497124-Reference-G;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative T tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt GCAACGTCCATA CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAgcaacgtccataAGATCGAGACCCGACGC chr2:58497124-Alternative-T;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Reference G tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CATGTGACGTGC CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcatgtgacgtgcAGATCGAGACCCGACGC chr2:58497124-Reference-G;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative T tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CTCTGCGGATCA CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAActctgcggatcaAGATCGAGACCCGACGC chr2:58497124-Alternative-T;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative T tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CGAAGGATAACG CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctTgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcgaaggataacgAGATCGAGACCCGACGC chr2:58497124-Alternative-T;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative A tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt GGTGCGATGCTA CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAggtgcgatgctaAGATCGAGACCCGACGC chr2:58497124-Alternative-A;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Reference G tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CTCTTGTTCGCG CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctGgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAActcttgttcgcgAGATCGAGACCCGACGC chr2:58497124-Reference-G;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Alternative A tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt AAGGCGTAGCCA CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctAgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAaaggcgtagccaAGATCGAGACCCGACGC chr2:58497124-Alternative-A;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Variant C tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt ACGACTAGTACC CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAacgactagtaccAGATCGAGACCCGACGC chr2:58497124-Variant-C;Patient-65 chr2:58497124-GC Inherited Patient-65 intergenic 0.000707 0.001025641 0.07 3.83 -0.04 FANCL 28608 Variant C tttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggctt CGTGCACACGAT CGACGCGGTCTCTCTCTtttcattttgacaaatgctgttttgtaatgtcacagaaaatatttcctctCgaaaaaaatactgtgtttactctgttcataaaatattctgtcagggcttAGAGGGAGACGGACGTCTCAATAAcgtgcacacgatAGATCGAGACCCGACGC chr2:58497124-Variant-C;Patient-65 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative A gcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GTATTCGTAGCA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgtattcgtagcaAGATCGAGACCCGACGC chr2:60852778-Alternative-A;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative A gcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GTGGCTTAATCA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgtggcttaatcaAGATCGAGACCCGACGC chr2:60852778-Alternative-A;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative A gcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GCATTCGCGCTT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgcattcgcgcttAGATCGAGACCCGACGC chr2:60852778-Alternative-A;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative C gcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GCGTAGTGTAAT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgcgtagtgtaatAGATCGAGACCCGACGC chr2:60852778-Alternative-C;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Reference T gcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GTTGTAGGTAAC CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgttgtaggtaacAGATCGAGACCCGACGC chr2:60852778-Reference-T;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative A gcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagt AGGCTGAGCGAT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAaggctgagcgatAGATCGAGACCCGACGC chr2:60852778-Alternative-A;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative C gcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagt AGCCTTGACGGT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAagccttgacggtAGATCGAGACCCGACGC chr2:60852778-Alternative-C;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative A gcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagt CTGAGTTGACTA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttAttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAActgagttgactaAGATCGAGACCCGACGC chr2:60852778-Alternative-A;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative C gcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagt AAGCACGACGGT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAaagcacgacggtAGATCGAGACCCGACGC chr2:60852778-Alternative-C;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Variant G gcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagt CATTACGTTCGT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAcattacgttcgtAGATCGAGACCCGACGC chr2:60852778-Variant-G;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Reference T gcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GCATTCTGGTCG CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgcattctggtcgAGATCGAGACCCGACGC chr2:60852778-Reference-T;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative C gcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagt ACAGATGCGGCA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAacagatgcggcaAGATCGAGACCCGACGC chr2:60852778-Alternative-C;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Variant G gcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagt CTAGCGCACGAA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAActagcgcacgaaAGATCGAGACCCGACGC chr2:60852778-Variant-G;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Alternative C gcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GCGTTCGGAGAA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttCttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgcgttcggagaaAGATCGAGACCCGACGC chr2:60852778-Alternative-C;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Variant G gcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagt CAGGCTGTAACA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAcaggctgtaacaAGATCGAGACCCGACGC chr2:60852778-Variant-G;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Reference T gcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagt AACAAGACGTAC CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAaacaagacgtacAGATCGAGACCCGACGC chr2:60852778-Reference-T;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Variant G gcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GATAGGCTTGCG CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgataggcttgcgAGATCGAGACCCGACGC chr2:60852778-Variant-G;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Variant G gcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagt AGAGTCCGTGAA CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttGttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAagagtccgtgaaAGATCGAGACCCGACGC chr2:60852778-Variant-G;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Reference T gcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagt ACCTGATTCTAC CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAacctgattctacAGATCGAGACCCGACGC chr2:60852778-Reference-T;Patient-24 chr2:60852778-TG Inherited Patient-24 intergenic 0.000735 0.00103 -0.39 0.2 -1.66 BCL11A 72144 Reference T gcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagt GATGACCACATT CGACGCGGTCTCTCTCTgcttagcatggagagagttttaaggtttccttagagtgagttttttttttTttttttttttttttgaggtggagtcttgctctgttgcccagactagagtAGAGGGAGACGGACGTCTCAATAAgatgaccacattAGATCGAGACCCGACGC chr2:60852778-Reference-T;Patient-24 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative C tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtat AAGGCTACGAGT CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAaaggctacgagtAGATCGAGACCCGACGC chr2:61014835-Alternative-C;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Reference G tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GTATAGGTAACG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgtataggtaacgAGATCGAGACCCGACGC chr2:61014835-Reference-G;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Variant A tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GGTGATCTACTA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAggtgatctactaAGATCGAGACCCGACGC chr2:61014835-Variant-A;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative C tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CGGTCCGTCATA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAcggtccgtcataAGATCGAGACCCGACGC chr2:61014835-Alternative-C;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Reference G tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GGTTACAGTAAG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAggttacagtaagAGATCGAGACCCGACGC chr2:61014835-Reference-G;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative C tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CAACGGAACGAA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAcaacggaacgaaAGATCGAGACCCGACGC chr2:61014835-Alternative-C;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative T tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GTGTAGTACGAA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgtgtagtacgaaAGATCGAGACCCGACGC chr2:61014835-Alternative-T;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative C tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GATGTGACATGA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgatgtgacatgaAGATCGAGACCCGACGC chr2:61014835-Alternative-C;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative C tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GGCACGAACATC CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctCtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAggcacgaacatcAGATCGAGACCCGACGC chr2:61014835-Alternative-C;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Reference G tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GACAGTACCAGG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgacagtaccaggAGATCGAGACCCGACGC chr2:61014835-Reference-G;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Variant A tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GCATGGCGAGAA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgcatggcgagaaAGATCGAGACCCGACGC chr2:61014835-Variant-A;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Variant A tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtat AGGTGGACGTAC CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAaggtggacgtacAGATCGAGACCCGACGC chr2:61014835-Variant-A;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Variant A tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GTAAGGTACGGC CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgtaaggtacggcAGATCGAGACCCGACGC chr2:61014835-Variant-A;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Reference G tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GCATACGATCTA CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgcatacgatctaAGATCGAGACCCGACGC chr2:61014835-Reference-G;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative T tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CGGACAAGATGG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAcggacaagatggAGATCGAGACCCGACGC chr2:61014835-Alternative-T;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Variant A tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtat GTTACGTTGCGG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctAtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAgttacgttgcggAGATCGAGACCCGACGC chr2:61014835-Variant-A;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative T tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CTAGTTCTAGTC CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAActagttctagtcAGATCGAGACCCGACGC chr2:61014835-Alternative-T;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Reference G tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CATCTGCGGTAC CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctGtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAcatctgcggtacAGATCGAGACCCGACGC chr2:61014835-Reference-G;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative T tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtat CTACCAGGCAAG CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAActaccaggcaagAGATCGAGACCCGACGC chr2:61014835-Alternative-T;Patient-107 chr2:61014835-GA DeNovo Patient-107 intronic PAPOLG NA 9.47e-05 -0.29 0.39 -7.45 PAPOLG 31469 Alternative T tctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtat ATCGGTACACTT CGACGCGGTCTCTCTCTtctcaaacctggctattactcagtgtcatctgcctacaatctggctggctTtacttattaaagttccacaattggttaagtgaacatggcatatccgtatAGAGGGAGACGGACGTCTCAATAAatcggtacacttAGATCGAGACCCGACGC chr2:61014835-Alternative-T;Patient-107 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative G ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CAGAGATCGAAC CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcagagatcgaacAGATCGAGACCCGACGC chr2:61787251-Alternative-G;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Variant C ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt ATCTCAAGGTCA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAatctcaaggtcaAGATCGAGACCCGACGC chr2:61787251-Variant-C;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Reference A ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt ACTGAGTATCCA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAactgagtatccaAGATCGAGACCCGACGC chr2:61787251-Reference-A;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative G ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt AGCTTGCCGGTT CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAagcttgccggttAGATCGAGACCCGACGC chr2:61787251-Alternative-G;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Reference A ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt ATCCGGACATTA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAatccggacattaAGATCGAGACCCGACGC chr2:61787251-Reference-A;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative T ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GACGGCGACTAA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgacggcgactaaAGATCGAGACCCGACGC chr2:61787251-Alternative-T;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative T ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GTGCCGCAGTAT CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgtgccgcagtatAGATCGAGACCCGACGC chr2:61787251-Alternative-T;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Reference A ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GGACGCGATTGA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAggacgcgattgaAGATCGAGACCCGACGC chr2:61787251-Reference-A;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Reference A ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CGATCCTCTCCT CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcgatcctctcctAGATCGAGACCCGACGC chr2:61787251-Reference-A;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative T ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GACCGAAGTAAC CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgaccgaagtaacAGATCGAGACCCGACGC chr2:61787251-Alternative-T;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative T ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CGTGCCGTAGAA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcgtgccgtagaaAGATCGAGACCCGACGC chr2:61787251-Alternative-T;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Reference A ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CAACCAATGGAA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaAaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcaaccaatggaaAGATCGAGACCCGACGC chr2:61787251-Reference-A;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative T ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GTTCGTACCGCA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaTaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgttcgtaccgcaAGATCGAGACCCGACGC chr2:61787251-Alternative-T;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative G ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GTGACTCGTACG CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgtgactcgtacgAGATCGAGACCCGACGC chr2:61787251-Alternative-G;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Variant C ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CGGACTGAAGTC CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcggactgaagtcAGATCGAGACCCGACGC chr2:61787251-Variant-C;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Variant C ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GATTGCGTGATT CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgattgcgtgattAGATCGAGACCCGACGC chr2:61787251-Variant-C;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Variant C ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt GCCTTGGTTAAT CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAgccttggttaatAGATCGAGACCCGACGC chr2:61787251-Variant-C;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Variant C ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CTACGTAAGCCA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaCaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAActacgtaagccaAGATCGAGACCCGACGC chr2:61787251-Variant-C;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative G ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt CAATTACGTCGA CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAcaattacgtcgaAGATCGAGACCCGACGC chr2:61787251-Alternative-G;Patient-4 chr2:61787251-AC DeNovo Patient-4 intergenic 9.7e-05 0.000513 -0.13 1.16 -1.14 XPO1 21832 Alternative G ccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctatt AACACAGGATAC CGACGCGGTCTCTCTCTccagcctgggcgacagagcaagactctgtcttaaaaaaaaaaaaaaaaaaGaacaacctctggaggtcagtgtgtgattttgagtcccacctcccctattAGAGGGAGACGGACGTCTCAATAAaacacaggatacAGATCGAGACCCGACGC chr2:61787251-Alternative-G;Patient-4 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative C cggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata CGTCGGACGTAT CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAcgtcggacgtatAGATCGAGACCCGACGC chr2:63802572-Alternative-C;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative C cggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata ATCACGACAGCT CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAatcacgacagctAGATCGAGACCCGACGC chr2:63802572-Alternative-C;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative G cggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata ACTTCGCTCCGA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAacttcgctccgaAGATCGAGACCCGACGC chr2:63802572-Alternative-G;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative C cggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GTTATGCTGTTC CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgttatgctgttcAGATCGAGACCCGACGC chr2:63802572-Alternative-C;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Reference A cggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata ATAACGGTGTTC CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAataacggtgttcAGATCGAGACCCGACGC chr2:63802572-Reference-A;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Variant T cggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata AGTAATTCTCGG CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAagtaattctcggAGATCGAGACCCGACGC chr2:63802572-Variant-T;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative C cggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GATCACGTAAGA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgatcacgtaagaAGATCGAGACCCGACGC chr2:63802572-Alternative-C;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative G cggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata AATCACCACGGT CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAaatcaccacggtAGATCGAGACCCGACGC chr2:63802572-Alternative-G;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative G cggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GGTCGATGTTCG CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAggtcgatgttcgAGATCGAGACCCGACGC chr2:63802572-Alternative-G;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative G cggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GTCATTCCGTGA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgtcattccgtgaAGATCGAGACCCGACGC chr2:63802572-Alternative-G;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Variant T cggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GTCGCGGAACTA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgtcgcggaactaAGATCGAGACCCGACGC chr2:63802572-Variant-T;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Reference A cggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata ACGCATGCGGAA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAacgcatgcggaaAGATCGAGACCCGACGC chr2:63802572-Reference-A;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Reference A cggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GGTGGTATCTTA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAggtggtatcttaAGATCGAGACCCGACGC chr2:63802572-Reference-A;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Variant T cggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata CAGCGACTTAAC CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAcagcgacttaacAGATCGAGACCCGACGC chr2:63802572-Variant-T;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative G cggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GCAAGTCGGCAA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacGgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgcaagtcggcaaAGATCGAGACCCGACGC chr2:63802572-Alternative-G;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Variant T cggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata AAGCGGCATATA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAaagcggcatataAGATCGAGACCCGACGC chr2:63802572-Variant-T;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Reference A cggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata ACTACGCAGATT CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAactacgcagattAGATCGAGACCCGACGC chr2:63802572-Reference-A;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Variant T cggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GGACGTCTATAT CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacTgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAggacgtctatatAGATCGAGACCCGACGC chr2:63802572-Variant-T;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Reference A cggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata CAGGTCAAGACA CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacAgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAcaggtcaagacaAGATCGAGACCCGACGC chr2:63802572-Reference-A;Patient-43 chr2:63802572-AT DeNovo Patient-43 intronic WDPCP 0.00018 0.000198 -0.09 1.49 -0.14 WDPCP 13294 Alternative C cggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatata GACGATATGTTC CGACGCGGTCTCTCTCTcggtatatacagtatatatacagtatatacactgtatacagtgtatatacCgtgtatacactgtatatacagtatatatgcagtatatacagtgtatataAGAGGGAGACGGACGTCTCAATAAgacgatatgttcAGATCGAGACCCGACGC chr2:63802572-Alternative-C;Patient-43 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Reference G cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt CAGCACAAGATA CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAcagcacaagataAGATCGAGACCCGACGC chr2:64302835-Reference-G;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Reference G cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt CTCAAGTATTGC CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAActcaagtattgcAGATCGAGACCCGACGC chr2:64302835-Reference-G;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Reference G cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GGCTGAAGTAAT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAggctgaagtaatAGATCGAGACCCGACGC chr2:64302835-Reference-G;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Reference G cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt ATTGCTGAACCT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAattgctgaacctAGATCGAGACCCGACGC chr2:64302835-Reference-G;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative T cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GCATCAGGACAC CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgcatcaggacacAGATCGAGACCCGACGC chr2:64302835-Alternative-T;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative T cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt ACCATTGTTCCA CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAaccattgttccaAGATCGAGACCCGACGC chr2:64302835-Alternative-T;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative T cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GGAAGTATTGTC CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAggaagtattgtcAGATCGAGACCCGACGC chr2:64302835-Alternative-T;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Reference G cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt CAGTAGATGGAG CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagGagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAcagtagatggagAGATCGAGACCCGACGC chr2:64302835-Reference-G;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Variant A cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GATCGAGATCAA CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgatcgagatcaaAGATCGAGACCCGACGC chr2:64302835-Variant-A;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative T cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GATCCTATAGCA CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgatcctatagcaAGATCGAGACCCGACGC chr2:64302835-Alternative-T;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative T cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt AACACGCGCCTA CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagTagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAaacacgcgcctaAGATCGAGACCCGACGC chr2:64302835-Alternative-T;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative C cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GATGGCTAGTAT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgatggctagtatAGATCGAGACCCGACGC chr2:64302835-Alternative-C;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative C cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt ACACACGTTCTT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAacacacgttcttAGATCGAGACCCGACGC chr2:64302835-Alternative-C;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Variant A cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt ATTCTGGTCTAC CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAattctggtctacAGATCGAGACCCGACGC chr2:64302835-Variant-A;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Variant A cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GTATATTGGTCG CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgtatattggtcgAGATCGAGACCCGACGC chr2:64302835-Variant-A;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative C cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt GTGTCGATAGGT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAgtgtcgataggtAGATCGAGACCCGACGC chr2:64302835-Alternative-C;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative C cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt CGAGTCGTACAC CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAcgagtcgtacacAGATCGAGACCCGACGC chr2:64302835-Alternative-C;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Alternative C cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt AGCGGCATTAAT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagCagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAagcggcattaatAGATCGAGACCCGACGC chr2:64302835-Alternative-C;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Variant A cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt CGATGTAAGTCT CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAcgatgtaagtctAGATCGAGACCCGACGC chr2:64302835-Variant-A;Patient-88 chr2:64302835-GA DeNovo Patient-88 intergenic 3.2e-05 0.000512821 0 2.59 0 VPS54 56620 Variant A cagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgactt AGTATCGTGACG CGACGCGGTCTCTCTCTcagtgtaaacaagagcagggcatgtatgagtagttgagaatggtgaatagAagtgtcaggcctctgagcccaagccaagccatcgcatcccctgtgacttAGAGGGAGACGGACGTCTCAATAAagtatcgtgacgAGATCGAGACCCGACGC chr2:64302835-Variant-A;Patient-88 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative G cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat CTCACGCAATAA CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAActcacgcaataaAGATCGAGACCCGACGC chr2:64688973-Alternative-G;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Reference C cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat CAACTGTGTCGG CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAcaactgtgtcggAGATCGAGACCCGACGC chr2:64688973-Reference-C;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative G cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat GACCTTGGTCAT CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAgaccttggtcatAGATCGAGACCCGACGC chr2:64688973-Alternative-G;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Variant T cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ACGCAACGGAGT CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAacgcaacggagtAGATCGAGACCCGACGC chr2:64688973-Variant-T;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative G cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat AACAAGTAACGC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAaacaagtaacgcAGATCGAGACCCGACGC chr2:64688973-Alternative-G;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative G cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat GATCGGATGTGG CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAgatcggatgtggAGATCGAGACCCGACGC chr2:64688973-Alternative-G;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Variant T cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ATCCGTCAAGCG CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAatccgtcaagcgAGATCGAGACCCGACGC chr2:64688973-Variant-T;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Reference C cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ACCAAGATACGA CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAaccaagatacgaAGATCGAGACCCGACGC chr2:64688973-Reference-C;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Reference C cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat CAGCTCGTGTAC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAcagctcgtgtacAGATCGAGACCCGACGC chr2:64688973-Reference-C;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Reference C cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat AGATCGAACGCA CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAagatcgaacgcaAGATCGAGACCCGACGC chr2:64688973-Reference-C;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Reference C cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ACTCATGAGTAC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatCgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAactcatgagtacAGATCGAGACCCGACGC chr2:64688973-Reference-C;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative A cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ACGCGATGTACG CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAacgcgatgtacgAGATCGAGACCCGACGC chr2:64688973-Alternative-A;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative A cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat CAACGTTCGAGA CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAcaacgttcgagaAGATCGAGACCCGACGC chr2:64688973-Alternative-A;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Variant T cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat CGCATGCACAAG CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAcgcatgcacaagAGATCGAGACCCGACGC chr2:64688973-Variant-T;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative A cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat AGCGTGGAACAC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAagcgtggaacacAGATCGAGACCCGACGC chr2:64688973-Alternative-A;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Variant T cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat GGAGAAGCAATC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAggagaagcaatcAGATCGAGACCCGACGC chr2:64688973-Variant-T;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Variant T cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat GATTCCGGCAGT CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatTgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAgattccggcagtAGATCGAGACCCGACGC chr2:64688973-Variant-T;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative G cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat AGGCCGATCCAA CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatGgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAaggccgatccaaAGATCGAGACCCGACGC chr2:64688973-Alternative-G;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative A cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat GCGGCATGTATC CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAgcggcatgtatcAGATCGAGACCCGACGC chr2:64688973-Alternative-A;Patient-42 chr2:64688973-CT DeNovo Patient-42 intergenic 3.2e-05 0.001 -0.22 0.62 -0.9 AFTPH 62465 Alternative A cattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcat ACAGGTCGTGCT CGACGCGGTCTCTCTCTcattctccctccccatagttttgcatttttctgaatgtcataaaaacaatAgtataacatgtaatcttttagagctggcttctcaatttgcataatgcatAGAGGGAGACGGACGTCTCAATAAacaggtcgtgctAGATCGAGACCCGACGC chr2:64688973-Alternative-A;Patient-42 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative G ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CTGAAGATCCGG CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAActgaagatccggAGATCGAGACCCGACGC chr2:64719597-Alternative-G;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative G ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CTTGAATCAGGT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAActtgaatcaggtAGATCGAGACCCGACGC chr2:64719597-Alternative-G;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative G ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GATAGTTGCGCG CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAgatagttgcgcgAGATCGAGACCCGACGC chr2:64719597-Alternative-G;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative G ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GATACCGCAGCT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAgataccgcagctAGATCGAGACCCGACGC chr2:64719597-Alternative-G;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative G ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CGTTCGAGTGGT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccGgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAcgttcgagtggtAGATCGAGACCCGACGC chr2:64719597-Alternative-G;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative T ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GGTTGCGATCGA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAggttgcgatcgaAGATCGAGACCCGACGC chr2:64719597-Alternative-T;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative T ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CGCCAAGAATAA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAcgccaagaataaAGATCGAGACCCGACGC chr2:64719597-Alternative-T;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Reference A ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GACGCGTCAATC CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAgacgcgtcaatcAGATCGAGACCCGACGC chr2:64719597-Reference-A;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative T ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CGATAAGAGTCT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAcgataagagtctAGATCGAGACCCGACGC chr2:64719597-Alternative-T;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative T ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CTTAGGCTAGCA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAActtaggctagcaAGATCGAGACCCGACGC chr2:64719597-Alternative-T;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Alternative T ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CAGGTACGGCAT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccTgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAcaggtacggcatAGATCGAGACCCGACGC chr2:64719597-Alternative-T;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Variant C ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa ATAAGCGTAACC CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAataagcgtaaccAGATCGAGACCCGACGC chr2:64719597-Variant-C;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Reference A ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa AGACCAACGCCA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAagaccaacgccaAGATCGAGACCCGACGC chr2:64719597-Reference-A;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Reference A ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa AAGGAGATCACG CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAaaggagatcacgAGATCGAGACCCGACGC chr2:64719597-Reference-A;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Reference A ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa ACCTGTGCGGAA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAacctgtgcggaaAGATCGAGACCCGACGC chr2:64719597-Reference-A;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Reference A ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GGTACATGTCCT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccAgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAggtacatgtcctAGATCGAGACCCGACGC chr2:64719597-Reference-A;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Variant C ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa CGCGTTAACCGA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAcgcgttaaccgaAGATCGAGACCCGACGC chr2:64719597-Variant-C;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Variant C ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa AGAGGTGTAGTT CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAagaggtgtagttAGATCGAGACCCGACGC chr2:64719597-Variant-C;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Variant C ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GAGTATGGTCGG CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAgagtatggtcggAGATCGAGACCCGACGC chr2:64719597-Variant-C;Patient-91 chr2:64719597-AC Inherited Patient-91 intergenic 0.000127 0.000513 -0.1 1.4 -2.16 AFTPH 31841 Variant C ccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaa GGCTCATCGTGA CGACGCGGTCTCTCTCTccctcctttttctatgtgaggaaactatgactcagaaacagaaaacagccCgtcgggagtcacattctactgatcagaactccatccacagtgacagaaaAGAGGGAGACGGACGTCTCAATAAggctcatcgtgaAGATCGAGACCCGACGC chr2:64719597-Variant-C;Patient-91 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Variant C tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt ACACGAATCAAG CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAacacgaatcaagAGATCGAGACCCGACGC chr2:65120-Variant-C;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Variant C tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GTTAGGCTTAGT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAgttaggcttagtAGATCGAGACCCGACGC chr2:65120-Variant-C;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Reference A tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt ATCTGACTTCCA CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAatctgacttccaAGATCGAGACCCGACGC chr2:65120-Reference-A;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Variant C tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt AGGACGAAGATA CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAaggacgaagataAGATCGAGACCCGACGC chr2:65120-Variant-C;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Variant C tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CTTACAAGGAGT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAActtacaaggagtAGATCGAGACCCGACGC chr2:65120-Variant-C;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Reference A tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GTTACTGGAACG CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAgttactggaacgAGATCGAGACCCGACGC chr2:65120-Reference-A;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative T tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CTCATCTACGGC CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAActcatctacggcAGATCGAGACCCGACGC chr2:65120-Alternative-T;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative G tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CAGGATCGGCAA CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAcaggatcggcaaAGATCGAGACCCGACGC chr2:65120-Alternative-G;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Reference A tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GGAACGGCTAAC CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAggaacggctaacAGATCGAGACCCGACGC chr2:65120-Reference-A;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative G tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GGCTTAATGGAT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAggcttaatggatAGATCGAGACCCGACGC chr2:65120-Alternative-G;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative T tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CGACTTACGCCT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAcgacttacgcctAGATCGAGACCCGACGC chr2:65120-Alternative-T;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative G tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CAACCGAATTGA CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAcaaccgaattgaAGATCGAGACCCGACGC chr2:65120-Alternative-G;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Reference A tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt AAGACCATTGAG CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAaagaccattgagAGATCGAGACCCGACGC chr2:65120-Reference-A;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative G tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt ACGCAACACCTT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAacgcaacaccttAGATCGAGACCCGACGC chr2:65120-Alternative-G;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Variant C tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GCGCGACGATAT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaCtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAgcgcgacgatatAGATCGAGACCCGACGC chr2:65120-Variant-C;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Reference A tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CTCTCAACTTGA CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaAtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAActctcaacttgaAGATCGAGACCCGACGC chr2:65120-Reference-A;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative T tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt ACGATCTGCGCT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAacgatctgcgctAGATCGAGACCCGACGC chr2:65120-Alternative-T;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative T tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt ACTAGGCGAAGG CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAactaggcgaaggAGATCGAGACCCGACGC chr2:65120-Alternative-T;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative G tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt CTGCGTCCTTCT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaGtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAActgcgtccttctAGATCGAGACCCGACGC chr2:65120-Alternative-G;Patient-19 chr2:65120-AC DeNovo Patient-19 intergenic 0.000223 0.00154 -0.1 1.36 -0.62 FAM110C 18531 Alternative T tcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgt GATATTGCGCTT CGACGCGGTCTCTCTCTtcctttgctaaagaaatttacagaaaagctttcttaaagcaaaaatcccaTtgcagctttctgaccagactctgatgtgctggtatttgctcagctctgtAGAGGGAGACGGACGTCTCAATAAgatattgcgcttAGATCGAGACCCGACGC chr2:65120-Alternative-T;Patient-19 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Variant C ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttga GGTAGTTCCGAC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAggtagttccgacAGATCGAGACCCGACGC chr2:65274651-Variant-C;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Variant C ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttga AACGATTACGTC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAaacgattacgtcAGATCGAGACCCGACGC chr2:65274651-Variant-C;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative A ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttga CAAGACGACATA CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAcaagacgacataAGATCGAGACCCGACGC chr2:65274651-Alternative-A;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Reference T ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttga CACAACACGTGC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAcacaacacgtgcAGATCGAGACCCGACGC chr2:65274651-Reference-T;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative A ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttga ATCTAGCTACGA CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAatctagctacgaAGATCGAGACCCGACGC chr2:65274651-Alternative-A;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative G ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttga GACATCATCACA CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAgacatcatcacaAGATCGAGACCCGACGC chr2:65274651-Alternative-G;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Reference T ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttga CGTAGAACGGAC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAcgtagaacggacAGATCGAGACCCGACGC chr2:65274651-Reference-T;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Reference T ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttga GCGTCACTTGAC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAgcgtcacttgacAGATCGAGACCCGACGC chr2:65274651-Reference-T;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative G ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttga ATACTATGGTCG CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAatactatggtcgAGATCGAGACCCGACGC chr2:65274651-Alternative-G;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative A ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttga ATATGGTCGGTT CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAatatggtcggttAGATCGAGACCCGACGC chr2:65274651-Alternative-A;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative A ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttga CGCATTCGTCTA CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAcgcattcgtctaAGATCGAGACCCGACGC chr2:65274651-Alternative-A;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Reference T ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttga ACTCTCGACGAG CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAactctcgacgagAGATCGAGACCCGACGC chr2:65274651-Reference-T;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Variant C ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttga ATCAAGCTGTCA CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAatcaagctgtcaAGATCGAGACCCGACGC chr2:65274651-Variant-C;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative A ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttga GACCGTGGTTGT CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctAttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAgaccgtggttgtAGATCGAGACCCGACGC chr2:65274651-Alternative-A;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative G ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttga CGCTCGATACAC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAcgctcgatacacAGATCGAGACCCGACGC chr2:65274651-Alternative-G;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative G ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttga GTTGAGAGGCGT CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAgttgagaggcgtAGATCGAGACCCGACGC chr2:65274651-Alternative-G;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Reference T ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttga GGTAATCGGTGG CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctTttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAggtaatcggtggAGATCGAGACCCGACGC chr2:65274651-Reference-T;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Variant C ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttga GACGGTATAAGG CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAgacggtataaggAGATCGAGACCCGACGC chr2:65274651-Variant-C;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Variant C ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttga CTACGACTCGAC CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctCttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAActacgactcgacAGATCGAGACCCGACGC chr2:65274651-Variant-C;Patient-94 chr2:65274651-TC DeNovo Patient-94 intergenic NA 0.000513 NA NA NA SLC1A4 59071 Alternative G ttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttga AATGCGGTACAT CGACGCGGTCTCTCTCTttttcctttttcttttcttaccaaccgcccccccccacctttttttttctGttcttttttttttttcatctactcagtgtctgaatacctccctatttgaAGAGGGAGACGGACGTCTCAATAAaatgcggtacatAGATCGAGACCCGACGC chr2:65274651-Alternative-G;Patient-94 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Reference G attctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgatt ACAGCAACGACC CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAacagcaacgaccAGATCGAGACCCGACGC chr2:66604898-Reference-G;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Reference G attctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgatt CATTCGCGCTGT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAcattcgcgctgtAGATCGAGACCCGACGC chr2:66604898-Reference-G;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative T attctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgatt CGCCGTAAGCTT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAcgccgtaagcttAGATCGAGACCCGACGC chr2:66604898-Alternative-T;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative T attctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgatt AGCTCGCACAAC CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAagctcgcacaacAGATCGAGACCCGACGC chr2:66604898-Alternative-T;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative T attctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgatt GTCGCGGAGTAA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAgtcgcggagtaaAGATCGAGACCCGACGC chr2:66604898-Alternative-T;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Reference G attctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgatt CTGAGCGGTCAA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAActgagcggtcaaAGATCGAGACCCGACGC chr2:66604898-Reference-G;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative T attctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgatt ACTATCAGTCGA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAactatcagtcgaAGATCGAGACCCGACGC chr2:66604898-Alternative-T;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative T attctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgatt ATACGCACGCTA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaTttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAatacgcacgctaAGATCGAGACCCGACGC chr2:66604898-Alternative-T;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Variant A attctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgatt AGATTCGCTACG CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAagattcgctacgAGATCGAGACCCGACGC chr2:66604898-Variant-A;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative C attctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgatt CGCAACCGAACT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAcgcaaccgaactAGATCGAGACCCGACGC chr2:66604898-Alternative-C;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative C attctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgatt GCGACTCAGTGT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAgcgactcagtgtAGATCGAGACCCGACGC chr2:66604898-Alternative-C;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Variant A attctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgatt AACGGCATCCAA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAaacggcatccaaAGATCGAGACCCGACGC chr2:66604898-Variant-A;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative C attctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgatt ATAGCTGTACCT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAatagctgtacctAGATCGAGACCCGACGC chr2:66604898-Alternative-C;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Variant A attctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgatt ACCGACGGTCTA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAaccgacggtctaAGATCGAGACCCGACGC chr2:66604898-Variant-A;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative C attctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgatt AATGGTTCGCGC CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAaatggttcgcgcAGATCGAGACCCGACGC chr2:66604898-Alternative-C;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Variant A attctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgatt GCGTACGCAGAA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAgcgtacgcagaaAGATCGAGACCCGACGC chr2:66604898-Variant-A;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Variant A attctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgatt GAAGTTCGTCAT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaAttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAgaagttcgtcatAGATCGAGACCCGACGC chr2:66604898-Variant-A;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Reference G attctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgatt CTTGCGATGCGT CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAActtgcgatgcgtAGATCGAGACCCGACGC chr2:66604898-Reference-G;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Alternative C attctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgatt ATTGTCGGTCGG CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaCttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAattgtcggtcggAGATCGAGACCCGACGC chr2:66604898-Alternative-C;Patient-55 chr2:66604898-GA Inherited Patient-55 intergenic NA 0.000512821 -0.12 1.25 0 MEIS1 57633 Reference G attctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgatt GACGATAGCATA CGACGCGGTCTCTCTCTattctttattttgaggaattttaaaaagatgagaagattttactttccaaGttcttaaactatagagctacaaggagctttatagggaacatatatgattAGAGGGAGACGGACGTCTCAATAAgacgatagcataAGATCGAGACCCGACGC chr2:66604898-Reference-G;Patient-55 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative T tcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CGCCGGATTCAT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcgccggattcatAGATCGAGACCCGACGC chr2:66755767-Alternative-T;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative T tcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CGTTGAGCATAT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcgttgagcatatAGATCGAGACCCGACGC chr2:66755767-Alternative-T;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Variant G tcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CGAATCGTGCGT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcgaatcgtgcgtAGATCGAGACCCGACGC chr2:66755767-Variant-G;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative A tcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccg AGATAAGCGGAA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAagataagcggaaAGATCGAGACCCGACGC chr2:66755767-Alternative-A;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative A tcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CTATAGCACGCG CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAActatagcacgcgAGATCGAGACCCGACGC chr2:66755767-Alternative-A;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative A tcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccg GTTCTGTCGCCA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAgttctgtcgccaAGATCGAGACCCGACGC chr2:66755767-Alternative-A;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Variant G tcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccg GAGATGCATCTT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAgagatgcatcttAGATCGAGACCCGACGC chr2:66755767-Variant-G;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative T tcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccg GGAACATTCGCA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAggaacattcgcaAGATCGAGACCCGACGC chr2:66755767-Alternative-T;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative T tcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CATCGCTTCGGT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcatcgcttcggtAGATCGAGACCCGACGC chr2:66755767-Alternative-T;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative T tcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccg GATAGGCTAAGA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagTtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAgataggctaagaAGATCGAGACCCGACGC chr2:66755767-Alternative-T;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative A tcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccg ATCGCTTCGTTA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAatcgcttcgttaAGATCGAGACCCGACGC chr2:66755767-Alternative-A;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Alternative A tcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CTGGCGTCATCA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagAtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAActggcgtcatcaAGATCGAGACCCGACGC chr2:66755767-Alternative-A;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Reference C tcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CGGTACTGAATT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcggtactgaattAGATCGAGACCCGACGC chr2:66755767-Reference-C;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Reference C tcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccg AGTGCGATGTGG CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAagtgcgatgtggAGATCGAGACCCGACGC chr2:66755767-Reference-C;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Variant G tcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccg ACACCTTAACCA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAacaccttaaccaAGATCGAGACCCGACGC chr2:66755767-Variant-G;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Variant G tcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CTGTCGTTGTGC CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAActgtcgttgtgcAGATCGAGACCCGACGC chr2:66755767-Variant-G;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Reference C tcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CTGTGCGCAGAA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAActgtgcgcagaaAGATCGAGACCCGACGC chr2:66755767-Reference-C;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Reference C tcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccg AAGACGTCTGAA CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAaagacgtctgaaAGATCGAGACCCGACGC chr2:66755767-Reference-C;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Variant G tcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccg CAGATAGGACGT CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagGtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAcagataggacgtAGATCGAGACCCGACGC chr2:66755767-Variant-G;Patient-93 chr2:66755767-CG Inherited Patient-93 intronic MEIS1 NA 4.95e-05 -0.1 1.38 -3.29 MEIS1 93234 Reference C tcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccg ACATGTGAGGCG CGACGCGGTCTCTCTCTtcccatcaattctctctcctaaacacttctccattcttcttcccacctagCtccattgccactgccacaggtcagtcctctatgtctccagctttctccgAGAGGGAGACGGACGTCTCAATAAacatgtgaggcgAGATCGAGACCCGACGC chr2:66755767-Reference-C;Patient-93 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Variant C tatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GCGACAGATAGA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgcgacagatagaAGATCGAGACCCGACGC chr2:68239994-Variant-C;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Variant C tatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg AGCCAACCAGTC CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAagccaaccagtcAGATCGAGACCCGACGC chr2:68239994-Variant-C;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative G tatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GTCGCAGATGCT CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgtcgcagatgctAGATCGAGACCCGACGC chr2:68239994-Alternative-G;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative G tatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GGACTCTATCAA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAggactctatcaaAGATCGAGACCCGACGC chr2:68239994-Alternative-G;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative G tatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GGCTATACGTAA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAggctatacgtaaAGATCGAGACCCGACGC chr2:68239994-Alternative-G;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative G tatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg CACGATTCTGAA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAcacgattctgaaAGATCGAGACCCGACGC chr2:68239994-Alternative-G;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative A tatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg ATCGGCGTAGTC CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAatcggcgtagtcAGATCGAGACCCGACGC chr2:68239994-Alternative-A;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Variant C tatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg CAATGTGTTGGT CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAcaatgtgttggtAGATCGAGACCCGACGC chr2:68239994-Variant-C;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative A tatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GTATCTGCCGAC CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgtatctgccgacAGATCGAGACCCGACGC chr2:68239994-Alternative-A;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Reference T tatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GGTACGGTCCTA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAggtacggtcctaAGATCGAGACCCGACGC chr2:68239994-Reference-T;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Reference T tatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GAGATACTCGTC CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgagatactcgtcAGATCGAGACCCGACGC chr2:68239994-Reference-T;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Reference T tatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GTCGTCGAAGTC CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgtcgtcgaagtcAGATCGAGACCCGACGC chr2:68239994-Reference-T;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative A tatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg AACTTCGTGCGG CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAaacttcgtgcggAGATCGAGACCCGACGC chr2:68239994-Alternative-A;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Variant C tatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg ATTGGTCTGAGT CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAattggtctgagtAGATCGAGACCCGACGC chr2:68239994-Variant-C;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative A tatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GCGTTGGATGCA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgcgttggatgcaAGATCGAGACCCGACGC chr2:68239994-Alternative-A;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative A tatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg AGATTACAAGCG CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaAatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAagattacaagcgAGATCGAGACCCGACGC chr2:68239994-Alternative-A;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Alternative G tatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg GTTCTGCCACGT CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaGatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAgttctgccacgtAGATCGAGACCCGACGC chr2:68239994-Alternative-G;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Variant C tatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg ACACACGTAAGA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaCatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAacacacgtaagaAGATCGAGACCCGACGC chr2:68239994-Variant-C;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Reference T tatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg ATAAGTACGCGA CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAAataagtacgcgaAGATCGAGACCCGACGC chr2:68239994-Reference-T;Patient-86 chr2:68239994-TC DeNovo Patient-86 intergenic 3.6e-05 0.000513 -0.08 1.56 0 C1D 50164 Reference T tatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtg CTATCTCTAGGT CGACGCGGTCTCTCTCTtatatacacatatacatatatacatacacatatatacgtatatatgtgtaTatatacacatatacgcatatatatgtatatatatgtatatatatgtgtgAGAGGGAGACGGACGTCTCAATAActatctctaggtAGATCGAGACCCGACGC chr2:68239994-Reference-T;Patient-86 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Reference G tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CTAGCGTATCCA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAActagcgtatccaAGATCGAGACCCGACGC chr2:68461763-Reference-G;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Variant A tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CGATAACGCCTT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAcgataacgccttAGATCGAGACCCGACGC chr2:68461763-Variant-A;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Reference G tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GATTAACGCGCG CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAgattaacgcgcgAGATCGAGACCCGACGC chr2:68461763-Reference-G;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative C tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CGACGTACTGAC CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAcgacgtactgacAGATCGAGACCCGACGC chr2:68461763-Alternative-C;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative C tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa AGCAACGTGTAA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAagcaacgtgtaaAGATCGAGACCCGACGC chr2:68461763-Alternative-C;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Variant A tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GTCATAGCGAAT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAgtcatagcgaatAGATCGAGACCCGACGC chr2:68461763-Variant-A;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative T tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa ACGTTGACATCA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAacgttgacatcaAGATCGAGACCCGACGC chr2:68461763-Alternative-T;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative C tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa AGGCTCATTGAT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAaggctcattgatAGATCGAGACCCGACGC chr2:68461763-Alternative-C;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Variant A tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GTAATAGCTTCG CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAgtaatagcttcgAGATCGAGACCCGACGC chr2:68461763-Variant-A;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Reference G tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa ACGTAGAAGCGG CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAacgtagaagcggAGATCGAGACCCGACGC chr2:68461763-Reference-G;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Reference G tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CTCGCTGAATCG CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAActcgctgaatcgAGATCGAGACCCGACGC chr2:68461763-Reference-G;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Reference G tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa AGACTATCACCA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacGacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAagactatcaccaAGATCGAGACCCGACGC chr2:68461763-Reference-G;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Variant A tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CAGGTATCAACT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAcaggtatcaactAGATCGAGACCCGACGC chr2:68461763-Variant-A;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative T tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CGTCGGTCAACA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAcgtcggtcaacaAGATCGAGACCCGACGC chr2:68461763-Alternative-T;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative T tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa CAACGTAGCACA CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAcaacgtagcacaAGATCGAGACCCGACGC chr2:68461763-Alternative-T;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative C tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa ATACGCGAACTT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAatacgcgaacttAGATCGAGACCCGACGC chr2:68461763-Alternative-C;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Variant A tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GGACACTTATGT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacAacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAggacacttatgtAGATCGAGACCCGACGC chr2:68461763-Variant-A;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative T tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GTTCACACCAAT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAgttcacaccaatAGATCGAGACCCGACGC chr2:68461763-Alternative-T;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative T tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa GCGAAGTTACTT CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacTacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAgcgaagttacttAGATCGAGACCCGACGC chr2:68461763-Alternative-T;Patient-23 chr2:68461763-GA DeNovo Patient-23 intronic PPP3R1 3.2e-05 4.95e-05 0.47 9.13 1.45 PPP3R1 17887 Alternative C tttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaa AGCTTATAGTCG CGACGCGGTCTCTCTCTtttaaatgtcttccatatatctaaaacagcagtcacaatcgcagaaacacCacagtgagagggtgtcaggtgaagacagctgaggagtaaaatggatgaaAGAGGGAGACGGACGTCTCAATAAagcttatagtcgAGATCGAGACCCGACGC chr2:68461763-Alternative-C;Patient-23 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative A tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga ACCACATCACGA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAaccacatcacgaAGATCGAGACCCGACGC chr2:68624950-Alternative-A;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative G tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CAAGCCGACGAT CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAcaagccgacgatAGATCGAGACCCGACGC chr2:68624950-Alternative-G;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative A tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AATGGATCGCTA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAaatggatcgctaAGATCGAGACCCGACGC chr2:68624950-Alternative-A;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Variant C tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AAGCAGGCCATC CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAaagcaggccatcAGATCGAGACCCGACGC chr2:68624950-Variant-C;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative A tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AGTAGTGCATCG CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAagtagtgcatcgAGATCGAGACCCGACGC chr2:68624950-Alternative-A;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative G tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga ACGAACGCAACG CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAacgaacgcaacgAGATCGAGACCCGACGC chr2:68624950-Alternative-G;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Variant C tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AGTGAACTTGCG CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAagtgaacttgcgAGATCGAGACCCGACGC chr2:68624950-Variant-C;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Reference T tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga GTGAACGGTAGA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAgtgaacggtagaAGATCGAGACCCGACGC chr2:68624950-Reference-T;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative G tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AGTTCGCTCCGT CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAagttcgctccgtAGATCGAGACCCGACGC chr2:68624950-Alternative-G;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Reference T tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CATAGACGCCGT CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAcatagacgccgtAGATCGAGACCCGACGC chr2:68624950-Reference-T;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative G tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga GACGTCGTCTGA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAgacgtcgtctgaAGATCGAGACCCGACGC chr2:68624950-Alternative-G;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative G tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CTCGGCCATGAA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtGggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAActcggccatgaaAGATCGAGACCCGACGC chr2:68624950-Alternative-G;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Variant C tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CTATAGCTCGAA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAActatagctcgaaAGATCGAGACCCGACGC chr2:68624950-Variant-C;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative A tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CTGTCCGTCGAT CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAActgtccgtcgatAGATCGAGACCCGACGC chr2:68624950-Alternative-A;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Reference T tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga GAGCTCGAACAC CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAgagctcgaacacAGATCGAGACCCGACGC chr2:68624950-Reference-T;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Reference T tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CGAGACATTACG CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAcgagacattacgAGATCGAGACCCGACGC chr2:68624950-Reference-T;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Alternative A tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AATCATAGACGG CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtAggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAaatcatagacggAGATCGAGACCCGACGC chr2:68624950-Alternative-A;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Reference T tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga AGTCTATAGCCA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtTggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAAagtctatagccaAGATCGAGACCCGACGC chr2:68624950-Reference-T;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Variant C tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CTGAAGCCGTCT CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAActgaagccgtctAGATCGAGACCCGACGC chr2:68624950-Variant-C;Patient-37 chr2:68624950-TC DeNovo Patient-37 intergenic NA 0.000513 -0.02 2.32 0.12 APLF 69740 Variant C tacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctga CTAACGTAGCCA CGACGCGGTCTCTCTCTtacatgtgcacaacatgcaggtttgttacataggtacacatgtgaattgtCggtttgctgcacccatcaacttgtcatttacattaggtatttctcctgaAGAGGGAGACGGACGTCTCAATAActaacgtagccaAGATCGAGACCCGACGC chr2:68624950-Variant-C;Patient-37 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Variant G ataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaat GCGTTGCTAATA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAgcgttgctaataAGATCGAGACCCGACGC chr2:68745321-Variant-G;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Reference A ataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaat GATCATACGGTT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAgatcatacggttAGATCGAGACCCGACGC chr2:68745321-Reference-A;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Variant G ataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaat CTACGGTTACTT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAActacggttacttAGATCGAGACCCGACGC chr2:68745321-Variant-G;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Variant G ataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaat CATTACCACCAT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAcattaccaccatAGATCGAGACCCGACGC chr2:68745321-Variant-G;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Variant G ataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaat GGACGGTCCTAT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAggacggtcctatAGATCGAGACCCGACGC chr2:68745321-Variant-G;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative T ataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaat ACGTACACTGTT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAacgtacactgttAGATCGAGACCCGACGC chr2:68745321-Alternative-T;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative T ataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaat GGATAACGACGA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAggataacgacgaAGATCGAGACCCGACGC chr2:68745321-Alternative-T;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Reference A ataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaat ATAGTAACGCGT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAatagtaacgcgtAGATCGAGACCCGACGC chr2:68745321-Reference-A;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Variant G ataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaat CTCTGGTCGGAA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatGtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAActctggtcggaaAGATCGAGACCCGACGC chr2:68745321-Variant-G;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative T ataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaat ACACCACAGATT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAacaccacagattAGATCGAGACCCGACGC chr2:68745321-Alternative-T;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative T ataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaat CAGCAGCTATAC CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAcagcagctatacAGATCGAGACCCGACGC chr2:68745321-Alternative-T;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative T ataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaat ATACTTGCGTCT CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatTtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAatacttgcgtctAGATCGAGACCCGACGC chr2:68745321-Alternative-T;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Reference A ataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaat CTGAGATGTGAA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAActgagatgtgaaAGATCGAGACCCGACGC chr2:68745321-Reference-A;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Reference A ataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaat AATGCGGAATGA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAaatgcggaatgaAGATCGAGACCCGACGC chr2:68745321-Reference-A;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative C ataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaat GTCGCGTCGATA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAgtcgcgtcgataAGATCGAGACCCGACGC chr2:68745321-Alternative-C;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative C ataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaat CGGTCTACACAC CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAcggtctacacacAGATCGAGACCCGACGC chr2:68745321-Alternative-C;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Reference A ataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaat GTCCGTCTAAGG CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatAtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAgtccgtctaaggAGATCGAGACCCGACGC chr2:68745321-Reference-A;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative C ataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaat ATACGCCAGTCA CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAatacgccagtcaAGATCGAGACCCGACGC chr2:68745321-Alternative-C;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative C ataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaat GTGGCTCTGTTC CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAgtggctctgttcAGATCGAGACCCGACGC chr2:68745321-Alternative-C;Patient-96 chr2:68745321-AG DeNovo Patient-96 intronic APLF NA 9.802e-05 0.01 2.71 0 APLF 50629 Alternative C ataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaat CACGTCAATCGG CGACGCGGTCTCTCTCTataataatatattattaatgtataatagtaatataatatattatcaatatCtattactaatatataataatatatcgttaatatataatagatcattaatAGAGGGAGACGGACGTCTCAATAAcacgtcaatcggAGATCGAGACCCGACGC chr2:68745321-Alternative-C;Patient-96 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Reference G catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagca AATGACTCGGTT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAaatgactcggttAGATCGAGACCCGACGC chr2:68833928-Reference-G;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Reference G catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagca ATCTGCGCTTAT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAatctgcgcttatAGATCGAGACCCGACGC chr2:68833928-Reference-G;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Reference G catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagca ATCTGACGGTAT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAatctgacggtatAGATCGAGACCCGACGC chr2:68833928-Reference-G;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Reference G catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagca CATTAAGGATCG CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcattaaggatcgAGATCGAGACCCGACGC chr2:68833928-Reference-G;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative A catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagca AGCTCTCAACTT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAagctctcaacttAGATCGAGACCCGACGC chr2:68833928-Alternative-A;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative A catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagca CGAGGTGAACAT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcgaggtgaacatAGATCGAGACCCGACGC chr2:68833928-Alternative-A;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative A catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagca GATGGTGGATCG CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAgatggtggatcgAGATCGAGACCCGACGC chr2:68833928-Alternative-A;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative A catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagca AACACCACCTTA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAaacaccaccttaAGATCGAGACCCGACGC chr2:68833928-Alternative-A;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative A catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagca CTCGTTGTAGAA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtAcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAActcgttgtagaaAGATCGAGACCCGACGC chr2:68833928-Alternative-A;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Variant T catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagca GGTAGAGCATGA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAggtagagcatgaAGATCGAGACCCGACGC chr2:68833928-Variant-T;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Variant T catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagca GGTCGGCTAAGA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAggtcggctaagaAGATCGAGACCCGACGC chr2:68833928-Variant-T;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Variant T catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagca ACCGCATGGCTT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAaccgcatggcttAGATCGAGACCCGACGC chr2:68833928-Variant-T;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Variant T catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagca CGTCGTCGATAC CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcgtcgtcgatacAGATCGAGACCCGACGC chr2:68833928-Variant-T;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Variant T catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagca GGACTCGTTAAT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtTcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAggactcgttaatAGATCGAGACCCGACGC chr2:68833928-Variant-T;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Reference G catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagca CAGACGGAATCA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtGcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcagacggaatcaAGATCGAGACCCGACGC chr2:68833928-Reference-G;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative C catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagca GGTATGAGTAGT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAggtatgagtagtAGATCGAGACCCGACGC chr2:68833928-Alternative-C;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative C catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagca CGACGCACTACA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcgacgcactacaAGATCGAGACCCGACGC chr2:68833928-Alternative-C;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative C catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagca CAATGTCCGACG CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcaatgtccgacgAGATCGAGACCCGACGC chr2:68833928-Alternative-C;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative C catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagca GTCGCGAATTAA CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAgtcgcgaattaaAGATCGAGACCCGACGC chr2:68833928-Alternative-C;Patient-30 chr2:68833928-GT Inherited Patient-30 intergenic 0.000829 0.000126 NA NA NA PROKR1 39025 Alternative C catgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagca CGTTATCGCAAT CGACGCGGTCTCTCTCTcatgcaagccctgcctcagtttctctcccagcactcttttctcccaacgtCcccccttctcttttttataaaatcgccacagctatcattattactagcaAGAGGGAGACGGACGTCTCAATAAcgttatcgcaatAGATCGAGACCCGACGC chr2:68833928-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative C taatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ACATGAGTCGGC CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAacatgagtcggcAGATCGAGACCCGACGC chr2:68846675-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative C taatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ACCTAAGATCCT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAacctaagatcctAGATCGAGACCCGACGC chr2:68846675-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative C taatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ATTGTCAAGTCG CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAattgtcaagtcgAGATCGAGACCCGACGC chr2:68846675-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative C taatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt AATGATGCCGGC CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAaatgatgccggcAGATCGAGACCCGACGC chr2:68846675-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative C taatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt GGCGAATCGTAC CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattCtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAggcgaatcgtacAGATCGAGACCCGACGC chr2:68846675-Alternative-C;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Reference A taatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CGCAGACTATAT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcgcagactatatAGATCGAGACCCGACGC chr2:68846675-Reference-A;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Reference A taatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt GGACCTAGAATC CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAggacctagaatcAGATCGAGACCCGACGC chr2:68846675-Reference-A;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Reference A taatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CGTTCTTACGAT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcgttcttacgatAGATCGAGACCCGACGC chr2:68846675-Reference-A;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Reference A taatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ACAGCGTGCGAT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAacagcgtgcgatAGATCGAGACCCGACGC chr2:68846675-Reference-A;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Reference A taatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ACTTCGGTAGCT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattAtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAacttcggtagctAGATCGAGACCCGACGC chr2:68846675-Reference-A;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative T taatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CTATCGCGAGAT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAActatcgcgagatAGATCGAGACCCGACGC chr2:68846675-Alternative-T;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative T taatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt GACCACAAGTCG CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAgaccacaagtcgAGATCGAGACCCGACGC chr2:68846675-Alternative-T;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative T taatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CACGTAGCGGAT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcacgtagcggatAGATCGAGACCCGACGC chr2:68846675-Alternative-T;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative T taatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt GTGAACCTTGAC CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAgtgaaccttgacAGATCGAGACCCGACGC chr2:68846675-Alternative-T;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Variant G taatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CGGTCAACGTGA CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcggtcaacgtgaAGATCGAGACCCGACGC chr2:68846675-Variant-G;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Variant G taatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt AATGGCCGATAA CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAaatggccgataaAGATCGAGACCCGACGC chr2:68846675-Variant-G;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Alternative T taatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CAGCGGAGCTAA CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattTtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcagcggagctaaAGATCGAGACCCGACGC chr2:68846675-Alternative-T;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Variant G taatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt CGGTAGGAGTCT CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAcggtaggagtctAGATCGAGACCCGACGC chr2:68846675-Variant-G;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Variant G taatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt GACTGGATTACG CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAgactggattacgAGATCGAGACCCGACGC chr2:68846675-Variant-G;Patient-30 chr2:68846675-AG Inherited Patient-30 intergenic 0.000669 0.000513 NA NA NA PROKR1 26278 Variant G taatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagtt ATACGTGGCTAA CGACGCGGTCTCTCTCTtaatacaatatagcaactatttacatagcatttactttgtattaggcattGtaagcaatctagagattatttaaagtatatgggaggatgtgtataagttAGAGGGAGACGGACGTCTCAATAAatacgtggctaaAGATCGAGACCCGACGC chr2:68846675-Variant-G;Patient-30 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Variant T ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga CGACGGCTTACA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAcgacggcttacaAGATCGAGACCCGACGC chr2:68874040-Variant-T;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Variant T ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GTTAACACGAGA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgttaacacgagaAGATCGAGACCCGACGC chr2:68874040-Variant-T;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative A ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga AGCTCGGATTAT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAagctcggattatAGATCGAGACCCGACGC chr2:68874040-Alternative-A;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative G ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga ACGTTCCATAGT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAacgttccatagtAGATCGAGACCCGACGC chr2:68874040-Alternative-G;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Variant T ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga CATAGGTTCGGC CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAcataggttcggcAGATCGAGACCCGACGC chr2:68874040-Variant-T;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative G ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GCGCTAAGACGA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgcgctaagacgaAGATCGAGACCCGACGC chr2:68874040-Alternative-G;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative G ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga CGGCAATTGATT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAcggcaattgattAGATCGAGACCCGACGC chr2:68874040-Alternative-G;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Reference C ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga ATCATGCGTGAA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAatcatgcgtgaaAGATCGAGACCCGACGC chr2:68874040-Reference-C;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative G ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga ACGTGCGATGAG CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAacgtgcgatgagAGATCGAGACCCGACGC chr2:68874040-Alternative-G;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Reference C ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga AGCGCATTCGCA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAagcgcattcgcaAGATCGAGACCCGACGC chr2:68874040-Reference-C;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Reference C ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga CAACTCGCACGT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAcaactcgcacgtAGATCGAGACCCGACGC chr2:68874040-Reference-C;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Variant T ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GATTACGTCGCG CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgattacgtcgcgAGATCGAGACCCGACGC chr2:68874040-Variant-T;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Reference C ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga ATTGTCTCCAGT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAattgtctccagtAGATCGAGACCCGACGC chr2:68874040-Reference-C;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative G ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GTTAGGCGTGCA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagGgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgttaggcgtgcaAGATCGAGACCCGACGC chr2:68874040-Alternative-G;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Reference C ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GACTAACGTGAA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagCgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgactaacgtgaaAGATCGAGACCCGACGC chr2:68874040-Reference-C;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative A ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga AGCGCTACACAC CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAagcgctacacacAGATCGAGACCCGACGC chr2:68874040-Alternative-A;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Variant T ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GCGGCTCTTAAG CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagTgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgcggctcttaagAGATCGAGACCCGACGC chr2:68874040-Variant-T;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative A ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GGTGAGTCCGTT CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAggtgagtccgttAGATCGAGACCCGACGC chr2:68874040-Alternative-A;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative A ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GACCTACGGCTA CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAgacctacggctaAGATCGAGACCCGACGC chr2:68874040-Alternative-A;Patient-65 chr2:68874040-CT Inherited Patient-65 intronic PROKR1 0.000447 4.95e-05 -0.37 0.22 -1.13 PROKR1 1085 Alternative A ggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcagga GGCGAGTATACG CGACGCGGTCTCTCTCTggcaacatatccagacctcaccttttgaaaaaattaaaaaattagctgagAgtggtggtgtgtgcctgtagtcctagctagttgagaggctgaggcaggaAGAGGGAGACGGACGTCTCAATAAggcgagtatacgAGATCGAGACCCGACGC chr2:68874040-Alternative-A;Patient-65 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Variant G tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattg ACTCCGGACAAG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAactccggacaagAGATCGAGACCCGACGC chr2:69063914-Variant-G;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Variant G tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattg ACTTAGGCTAGT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAacttaggctagtAGATCGAGACCCGACGC chr2:69063914-Variant-G;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative T tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CATAAGCAGACG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAcataagcagacgAGATCGAGACCCGACGC chr2:69063914-Alternative-T;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative T tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CAACGACCATAC CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAcaacgaccatacAGATCGAGACCCGACGC chr2:69063914-Alternative-T;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Variant G tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattg ATCAAGCGAACC CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAatcaagcgaaccAGATCGAGACCCGACGC chr2:69063914-Variant-G;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Variant G tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CGTTAGAGAGCG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAcgttagagagcgAGATCGAGACCCGACGC chr2:69063914-Variant-G;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative T tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GCAGTATGACTT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgcagtatgacttAGATCGAGACCCGACGC chr2:69063914-Alternative-T;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative T tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CGTTATACCGGT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAcgttataccggtAGATCGAGACCCGACGC chr2:69063914-Alternative-T;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative T tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GTACTTGGTCGG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaTagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgtacttggtcggAGATCGAGACCCGACGC chr2:69063914-Alternative-T;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Variant G tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattg AGATAGGAGCTA CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaGagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAagataggagctaAGATCGAGACCCGACGC chr2:69063914-Variant-G;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Reference A tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattg AGGCTGTTAAGA CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAaggctgttaagaAGATCGAGACCCGACGC chr2:69063914-Reference-A;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Reference A tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GGTATCGCACCT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAggtatcgcacctAGATCGAGACCCGACGC chr2:69063914-Reference-A;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative C tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CGGACTACACAG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAcggactacacagAGATCGAGACCCGACGC chr2:69063914-Alternative-C;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative C tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattg CTTAGCTACCGC CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAActtagctaccgcAGATCGAGACCCGACGC chr2:69063914-Alternative-C;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Reference A tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GTCGGAGCTAGA CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgtcggagctagaAGATCGAGACCCGACGC chr2:69063914-Reference-A;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative C tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GAGCCTAACGCT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgagcctaacgctAGATCGAGACCCGACGC chr2:69063914-Alternative-C;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative C tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GTAGAGTACTGA CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgtagagtactgaAGATCGAGACCCGACGC chr2:69063914-Alternative-C;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Alternative C tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattg ACGACCGGTATT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaCagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAacgaccggtattAGATCGAGACCCGACGC chr2:69063914-Alternative-C;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Reference A tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattg ACGTAATACGAG CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAacgtaatacgagAGATCGAGACCCGACGC chr2:69063914-Reference-A;Patient-81 chr2:69063914-AG DeNovo Patient-81 intergenic 3.2e-05 0.00032 0.17 5.42 1.12 BMP10 34734 Reference A tactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattg GCGAATCATAGT CGACGCGGTCTCTCTCTtactcactgcacaagaccgtctttaggacaaaataggctactatggatgaAagggccacatcaggggtgtccagtcttttggcttctctgggccacattgAGAGGGAGACGGACGTCTCAATAAgcgaatcatagtAGATCGAGACCCGACGC chr2:69063914-Reference-A;Patient-81 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Variant G tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac ATCTATAGCCGA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAatctatagccgaAGATCGAGACCCGACGC chr2:69286431-Variant-G;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Variant G tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac GCACGACCGTAA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAgcacgaccgtaaAGATCGAGACCCGACGC chr2:69286431-Variant-G;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Variant G tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CTTGCGGCTGAA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAActtgcggctgaaAGATCGAGACCCGACGC chr2:69286431-Variant-G;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Variant G tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CAAGTATCCTTC CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcaagtatccttcAGATCGAGACCCGACGC chr2:69286431-Variant-G;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative T tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CGAGCAACGCAA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcgagcaacgcaaAGATCGAGACCCGACGC chr2:69286431-Alternative-T;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative T tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac GGAGATCTGCGA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAggagatctgcgaAGATCGAGACCCGACGC chr2:69286431-Alternative-T;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Reference A tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CGGTCAACACCT CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcggtcaacacctAGATCGAGACCCGACGC chr2:69286431-Reference-A;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Variant G tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac AGACGACGCTGA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcGttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAagacgacgctgaAGATCGAGACCCGACGC chr2:69286431-Variant-G;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative T tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CATCTATATCGC CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcatctatatcgcAGATCGAGACCCGACGC chr2:69286431-Alternative-T;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative T tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CAGCTATGTCGG CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcagctatgtcggAGATCGAGACCCGACGC chr2:69286431-Alternative-T;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Reference A tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CGACGTTAATCG CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcgacgttaatcgAGATCGAGACCCGACGC chr2:69286431-Reference-A;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Reference A tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac ACAATGCTACAC CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAacaatgctacacAGATCGAGACCCGACGC chr2:69286431-Reference-A;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative T tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac ACAATGCGGCGT CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcTttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAacaatgcggcgtAGATCGAGACCCGACGC chr2:69286431-Alternative-T;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Reference A tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac AGTTCTGTTGTC CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAagttctgttgtcAGATCGAGACCCGACGC chr2:69286431-Reference-A;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative C tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CAACGCGAAGCT CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAcaacgcgaagctAGATCGAGACCCGACGC chr2:69286431-Alternative-C;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Reference A tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac GGTTATGCTACA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcAttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAggttatgctacaAGATCGAGACCCGACGC chr2:69286431-Reference-A;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative C tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac ACCGAATTCGAC CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAaccgaattcgacAGATCGAGACCCGACGC chr2:69286431-Alternative-C;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative C tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac AATCTCCGGTAA CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAaatctccggtaaAGATCGAGACCCGACGC chr2:69286431-Alternative-C;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative C tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac CTTGCTACCATT CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAActtgctaccattAGATCGAGACCCGACGC chr2:69286431-Alternative-C;Patient-62 chr2:69286431-AG DeNovo Patient-62 intronic ANTXR1 6.4e-05 4.95e-05 -0.17 0.86 -0.67 ANTXR1 46154 Alternative C tacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaac GTAGAAGCGCGT CGACGCGGTCTCTCTCTtacagagaaatcttgtgtgaaaggaagagtgaattgatgggtcaaacttcCttgttgtcttatttttaaaaattgccacagccaccccaccttcagcaacAGAGGGAGACGGACGTCTCAATAAgtagaagcgcgtAGATCGAGACCCGACGC chr2:69286431-Alternative-C;Patient-62 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative C tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt AACGTTGGTGCA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAaacgttggtgcaAGATCGAGACCCGACGC chr2:69318909-Alternative-C;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative C tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GGATACACAACC CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAggatacacaaccAGATCGAGACCCGACGC chr2:69318909-Alternative-C;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative C tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GAGATAGATTCG CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgagatagattcgAGATCGAGACCCGACGC chr2:69318909-Alternative-C;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative C tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt ACCGTCGATAAT CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAaccgtcgataatAGATCGAGACCCGACGC chr2:69318909-Alternative-C;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative C tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GAGCACGTATAA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatCtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgagcacgtataaAGATCGAGACCCGACGC chr2:69318909-Alternative-C;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative T tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GCCGGTTGGTTA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgccggttggttaAGATCGAGACCCGACGC chr2:69318909-Alternative-T;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Variant G tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GTGAGCTGAATA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgtgagctgaataAGATCGAGACCCGACGC chr2:69318909-Variant-G;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Reference A tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt CTACGTTCGGCA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAActacgttcggcaAGATCGAGACCCGACGC chr2:69318909-Reference-A;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Reference A tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt AGTCGTCTTCAT CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAagtcgtcttcatAGATCGAGACCCGACGC chr2:69318909-Reference-A;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Variant G tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt CGAATTGTAACC CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAcgaattgtaaccAGATCGAGACCCGACGC chr2:69318909-Variant-G;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Reference A tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt AACGTAGTAGGT CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAaacgtagtaggtAGATCGAGACCCGACGC chr2:69318909-Reference-A;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Reference A tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GCGTCGGAACTT CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgcgtcggaacttAGATCGAGACCCGACGC chr2:69318909-Reference-A;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Variant G tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt GAGAGCATATCA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAgagagcatatcaAGATCGAGACCCGACGC chr2:69318909-Variant-G;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Reference A tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt CTTGCTTACTGA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatAtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAActtgcttactgaAGATCGAGACCCGACGC chr2:69318909-Reference-A;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Variant G tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt ACCGTAGCACGT CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAaccgtagcacgtAGATCGAGACCCGACGC chr2:69318909-Variant-G;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Variant G tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt ATCTGGAGCGCA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatGtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAatctggagcgcaAGATCGAGACCCGACGC chr2:69318909-Variant-G;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative T tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt AGCTTACGGCCA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAagcttacggccaAGATCGAGACCCGACGC chr2:69318909-Alternative-T;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative T tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt ACGCCACATTAA CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAacgccacattaaAGATCGAGACCCGACGC chr2:69318909-Alternative-T;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative T tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt ACGATACACGTC CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAacgatacacgtcAGATCGAGACCCGACGC chr2:69318909-Alternative-T;Patient-105 chr2:69318909-AG DeNovo Patient-105 intronic ANTXR1 NA 3.85e-05 0.3 7.23 2.04 ANTXR1 78632 Alternative T tcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttctt CAGCATATACAC CGACGCGGTCTCTCTCTtcctcacacaatggtagtggacggctctggttgtccctgtagagggccatTtagttttgtcattaataaggaagtctctatgtaaagaattagccttcttAGAGGGAGACGGACGTCTCAATAAcagcatatacacAGATCGAGACCCGACGC chr2:69318909-Alternative-T;Patient-105 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative G tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagca AAGTATACCGTC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAaagtataccgtcAGATCGAGACCCGACGC chr2:70532058-Alternative-G;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative G tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagca CGGTACTAACCA CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcggtactaaccaAGATCGAGACCCGACGC chr2:70532058-Alternative-G;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative G tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagca CTAGCTAACCGC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAActagctaaccgcAGATCGAGACCCGACGC chr2:70532058-Alternative-G;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Reference T tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagca GGCAGTTATTGT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAggcagttattgtAGATCGAGACCCGACGC chr2:70532058-Reference-T;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Reference T tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagca CGCGATTACGTC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcgcgattacgtcAGATCGAGACCCGACGC chr2:70532058-Reference-T;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative G tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagca CTATAGCTCTGA CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAActatagctctgaAGATCGAGACCCGACGC chr2:70532058-Alternative-G;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Reference T tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagca CGACGTAATAAG CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcgacgtaataagAGATCGAGACCCGACGC chr2:70532058-Reference-T;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Reference T tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagca GATCATTCGTGA CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAgatcattcgtgaAGATCGAGACCCGACGC chr2:70532058-Reference-T;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Reference T tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagca CATCTATCGCGG CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaTacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcatctatcgcggAGATCGAGACCCGACGC chr2:70532058-Reference-T;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Variant C tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagca AACGGCCAGACT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAaacggccagactAGATCGAGACCCGACGC chr2:70532058-Variant-C;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative A tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagca ACCACGCTTCGT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAaccacgcttcgtAGATCGAGACCCGACGC chr2:70532058-Alternative-A;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative A tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagca CATGCGCAGAGT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcatgcgcagagtAGATCGAGACCCGACGC chr2:70532058-Alternative-A;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Variant C tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagca CGTATAAGGAAC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAcgtataaggaacAGATCGAGACCCGACGC chr2:70532058-Variant-C;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative G tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagca CTAGTCTGATGT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaGacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAActagtctgatgtAGATCGAGACCCGACGC chr2:70532058-Alternative-G;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative A tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagca ACTTGGATAGTC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAacttggatagtcAGATCGAGACCCGACGC chr2:70532058-Alternative-A;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative A tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagca GGAGTAGTATAC CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAggagtagtatacAGATCGAGACCCGACGC chr2:70532058-Alternative-A;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Alternative A tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagca GTGCGATGTAAT CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaAacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAgtgcgatgtaatAGATCGAGACCCGACGC chr2:70532058-Alternative-A;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Variant C tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagca ACGCAAGCATAA CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAacgcaagcataaAGATCGAGACCCGACGC chr2:70532058-Variant-C;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Variant C tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagca GACATGCTCACG CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAgacatgctcacgAGATCGAGACCCGACGC chr2:70532058-Variant-C;Patient-77 chr2:70532058-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SNRPG 11188 Variant C tccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagca GGATCGACTTAA CGACGCGGTCTCTCTCTtccagactagaaaaagtaggaaatctctattgtgactgacttaatgtttaCacttatgtcccatattccacagaaagttctttctttcttctttatagcaAGAGGGAGACGGACGTCTCAATAAggatcgacttaaAGATCGAGACCCGACGC chr2:70532058-Variant-C;Patient-77 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Variant C tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga ATCGGCACCTAC CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAatcggcacctacAGATCGAGACCCGACGC chr2:71268310-Variant-C;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Variant C tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GCATAGGCTAAT CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgcataggctaatAGATCGAGACCCGACGC chr2:71268310-Variant-C;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Reference T tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GCCAACACGCTA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgccaacacgctaAGATCGAGACCCGACGC chr2:71268310-Reference-T;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Variant C tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga AGGCTGTCATCG CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAaggctgtcatcgAGATCGAGACCCGACGC chr2:71268310-Variant-C;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Variant C tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga CTGTCGGTTCAC CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAActgtcggttcacAGATCGAGACCCGACGC chr2:71268310-Variant-C;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Reference T tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga ACTCACCGATAA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAactcaccgataaAGATCGAGACCCGACGC chr2:71268310-Reference-T;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Variant C tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GTTCGACTGTGG CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcCgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgttcgactgtggAGATCGAGACCCGACGC chr2:71268310-Variant-C;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Reference T tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga ACATGACTCCGC CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAacatgactccgcAGATCGAGACCCGACGC chr2:71268310-Reference-T;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative A tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GCGTGCTTCGAA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgcgtgcttcgaaAGATCGAGACCCGACGC chr2:71268310-Alternative-A;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative A tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga ATACGCTCGTAA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAatacgctcgtaaAGATCGAGACCCGACGC chr2:71268310-Alternative-A;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative A tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga AATCGCTTCCGG CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAaatcgcttccggAGATCGAGACCCGACGC chr2:71268310-Alternative-A;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative A tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga AAGATAGGTCGT CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAaagataggtcgtAGATCGAGACCCGACGC chr2:71268310-Alternative-A;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Reference T tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GATAGACGCATA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgatagacgcataAGATCGAGACCCGACGC chr2:71268310-Reference-T;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative A tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GCCGCTTAGATA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcAgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgccgcttagataAGATCGAGACCCGACGC chr2:71268310-Alternative-A;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative G tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GAGCTCAATGGT CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgagctcaatggtAGATCGAGACCCGACGC chr2:71268310-Alternative-G;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative G tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GTGTCGGAACAG CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgtgtcggaacagAGATCGAGACCCGACGC chr2:71268310-Alternative-G;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative G tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga AGAACGCATGAA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAagaacgcatgaaAGATCGAGACCCGACGC chr2:71268310-Alternative-G;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Reference T tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga GTCATGTCGGCA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcTgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAgtcatgtcggcaAGATCGAGACCCGACGC chr2:71268310-Reference-T;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative G tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga AAGGTAGAAGCA CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAaaggtagaagcaAGATCGAGACCCGACGC chr2:71268310-Alternative-G;Patient-37 chr2:71268310-TC DeNovo Patient-37 intergenic 0.000159 0.00103 0.09 4.17 0 MCEE 89083 Alternative G tgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaaga CGCAACAACGAC CGACGCGGTCTCTCTCTtgacatcaggtttacaattcccctacaaaattacgaataatattgaaggcGgtataccccccgcgactttagcagccgcatcttgctagaatatggaagaAGAGGGAGACGGACGTCTCAATAAcgcaacaacgacAGATCGAGACCCGACGC chr2:71268310-Alternative-G;Patient-37 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Variant G ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttga AGACGGCATCGA CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAagacggcatcgaAGATCGAGACCCGACGC chr2:71352309-Variant-G;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Variant G ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttga ATCTCGTAGTCT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAatctcgtagtctAGATCGAGACCCGACGC chr2:71352309-Variant-G;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Variant G ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttga GTGATAGTTGAG CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgtgatagttgagAGATCGAGACCCGACGC chr2:71352309-Variant-G;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Variant G ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttga GAGCATGAAGCG CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgagcatgaagcgAGATCGAGACCCGACGC chr2:71352309-Variant-G;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative T ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttga AGCATGTTCGGC CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAagcatgttcggcAGATCGAGACCCGACGC chr2:71352309-Alternative-T;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative C ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttga ACCGGAGTAACG CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAaccggagtaacgAGATCGAGACCCGACGC chr2:71352309-Alternative-C;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Variant G ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttga AACGACGGAGAT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtGtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAaacgacggagatAGATCGAGACCCGACGC chr2:71352309-Variant-G;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative C ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttga AGGACGCGTCAT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAaggacgcgtcatAGATCGAGACCCGACGC chr2:71352309-Alternative-C;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative C ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttga CTAGACAACATC CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAActagacaacatcAGATCGAGACCCGACGC chr2:71352309-Alternative-C;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative T ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttga GTGCTAGGCTGT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgtgctaggctgtAGATCGAGACCCGACGC chr2:71352309-Alternative-T;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative C ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttga GTGATCTCACTT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgtgatctcacttAGATCGAGACCCGACGC chr2:71352309-Alternative-C;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Reference A ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttga GTTATGTCACGA CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgttatgtcacgaAGATCGAGACCCGACGC chr2:71352309-Reference-A;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative T ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttga ATAGCAAGCGAG CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAatagcaagcgagAGATCGAGACCCGACGC chr2:71352309-Alternative-T;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Reference A ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttga CAATGAGGACGA CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAcaatgaggacgaAGATCGAGACCCGACGC chr2:71352309-Reference-A;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Reference A ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttga CGTACTTACGAA CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAcgtacttacgaaAGATCGAGACCCGACGC chr2:71352309-Reference-A;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative C ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttga CTGGCACTTAAC CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtCtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAActggcacttaacAGATCGAGACCCGACGC chr2:71352309-Alternative-C;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Reference A ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttga ACCGAGGTGAGT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAaccgaggtgagtAGATCGAGACCCGACGC chr2:71352309-Reference-A;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Reference A ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttga GAGCACAACGCA CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtAtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAgagcacaacgcaAGATCGAGACCCGACGC chr2:71352309-Reference-A;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative T ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttga CAGAGCGAGTAT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAAcagagcgagtatAGATCGAGACCCGACGC chr2:71352309-Alternative-T;Patient-32 chr2:71352309-AG DeNovo Patient-32 intronic MCEE NA 4.95e-05 -0.28 0.41 -1.12 MCEE 5084 Alternative T ggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttga CTATGGCCGCAT CGACGCGGTCTCTCTCTggtgcctgtcaccatacccagctaatttgtgtgtgtgtgtatgtgtgtgtTtatatataaatatatatatatatatatatatatttttttttttttttgaAGAGGGAGACGGACGTCTCAATAActatggccgcatAGATCGAGACCCGACGC chr2:71352309-Alternative-T;Patient-32 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Reference A ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GTGACATCCAAG CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgtgacatccaagAGATCGAGACCCGACGC chr2:72296924-Reference-A;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative G ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg AGTTCTGTCCTA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAagttctgtcctaAGATCGAGACCCGACGC chr2:72296924-Alternative-G;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative C ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GTACGCGGATGT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgtacgcggatgtAGATCGAGACCCGACGC chr2:72296924-Alternative-C;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Variant T ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CGAAGCTCACGT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAcgaagctcacgtAGATCGAGACCCGACGC chr2:72296924-Variant-T;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Variant T ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GATGCTCAATGA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgatgctcaatgaAGATCGAGACCCGACGC chr2:72296924-Variant-T;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative C ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GGTAGGCGTGAT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAggtaggcgtgatAGATCGAGACCCGACGC chr2:72296924-Alternative-C;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Reference A ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GCGTCGTGTGAT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgcgtcgtgtgatAGATCGAGACCCGACGC chr2:72296924-Reference-A;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Variant T ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GGAATATGCCGG CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAggaatatgccggAGATCGAGACCCGACGC chr2:72296924-Variant-T;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Reference A ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg ATTGTCTTCGCA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAattgtcttcgcaAGATCGAGACCCGACGC chr2:72296924-Reference-A;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Variant T ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CGGCGCACTAAT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAcggcgcactaatAGATCGAGACCCGACGC chr2:72296924-Variant-T;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Reference A ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg ATAAGGCACGTT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAataaggcacgttAGATCGAGACCCGACGC chr2:72296924-Reference-A;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Variant T ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GAGTCACGATCA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacTcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgagtcacgatcaAGATCGAGACCCGACGC chr2:72296924-Variant-T;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative G ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CGCAGTGTAGTT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAcgcagtgtagttAGATCGAGACCCGACGC chr2:72296924-Alternative-G;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative G ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GCGCGATACTGA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgcgcgatactgaAGATCGAGACCCGACGC chr2:72296924-Alternative-G;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Reference A ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CAATTGGCGAAT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacAcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAcaattggcgaatAGATCGAGACCCGACGC chr2:72296924-Reference-A;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative G ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GCAAGATCCATT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgcaagatccattAGATCGAGACCCGACGC chr2:72296924-Alternative-G;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative C ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CTTGATCACGAA CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAActtgatcacgaaAGATCGAGACCCGACGC chr2:72296924-Alternative-C;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative C ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg ACGTAGTTACCT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAacgtagttacctAGATCGAGACCCGACGC chr2:72296924-Alternative-C;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative G ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg GTACTCTGCTAT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacGcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAgtactctgctatAGATCGAGACCCGACGC chr2:72296924-Alternative-G;Patient-88 chr2:72296924-AT DeNovo Patient-88 intergenic 0.00076 0.00103 -0.01 2.48 0 CYP26B1 78066 Alternative C ctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtgggg CAGGCTTATTGT CGACGCGGTCTCTCTCTctgcatattctcactcataggtgggaattgaacaatgagatcacatggacCcaggaaggggaatatcacactctggggactgtggtggggtggggtggggAGAGGGAGACGGACGTCTCAATAAcaggcttattgtAGATCGAGACCCGACGC chr2:72296924-Alternative-C;Patient-88 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Variant A cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa ATCAATCTGACG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAatcaatctgacgAGATCGAGACCCGACGC chr2:73026969-Variant-A;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Variant A cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa CTATGTTGCACA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActatgttgcacaAGATCGAGACCCGACGC chr2:73026969-Variant-A;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Variant A cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa AAGTTGAGCGCG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaagttgagcgcgAGATCGAGACCCGACGC chr2:73026969-Variant-A;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative C cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa CGATAATCTGGT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAcgataatctggtAGATCGAGACCCGACGC chr2:73026969-Alternative-C;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative C cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa AACTCGCAACGA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaactcgcaacgaAGATCGAGACCCGACGC chr2:73026969-Alternative-C;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Variant A cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GTGTCACGGCTA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgtgtcacggctaAGATCGAGACCCGACGC chr2:73026969-Variant-A;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Variant A cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GGACCGGTTAGT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacAaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggaccggttagtAGATCGAGACCCGACGC chr2:73026969-Variant-A;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative T cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GACCGTGCTAAG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgaccgtgctaagAGATCGAGACCCGACGC chr2:73026969-Alternative-T;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative T cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GGAAGACGCAAT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggaagacgcaatAGATCGAGACCCGACGC chr2:73026969-Alternative-T;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative T cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa AGCTAAGGTAGG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAagctaaggtaggAGATCGAGACCCGACGC chr2:73026969-Alternative-T;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative T cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GGTATCCGAATA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggtatccgaataAGATCGAGACCCGACGC chr2:73026969-Alternative-T;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative C cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GCGCTCGTACTA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgcgctcgtactaAGATCGAGACCCGACGC chr2:73026969-Alternative-C;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Reference G cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa ACCATGTTCGCG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaccatgttcgcgAGATCGAGACCCGACGC chr2:73026969-Reference-G;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative C cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa AGGTTACGGATA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaggttacggataAGATCGAGACCCGACGC chr2:73026969-Alternative-C;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative T cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa CGTATCGCGAAG CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacTaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAcgtatcgcgaagAGATCGAGACCCGACGC chr2:73026969-Alternative-T;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Reference G cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa ACACCGGTGACA CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAacaccggtgacaAGATCGAGACCCGACGC chr2:73026969-Reference-G;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Reference G cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GAATCGGCGTAC CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgaatcggcgtacAGATCGAGACCCGACGC chr2:73026969-Reference-G;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Reference G cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa AACGGTGTGAAT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaacggtgtgaatAGATCGAGACCCGACGC chr2:73026969-Reference-G;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Alternative C cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa GCGTAATCTCAT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacCaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgcgtaatctcatAGATCGAGACCCGACGC chr2:73026969-Alternative-C;Patient-91 chr2:73026969-GA Inherited Patient-91 intronic EXOC6B NA 4.95e-05 -0.31 0.35 -0.45 EXOC6B 26207 Reference G cctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaa CAGACGAGTGGT CGACGCGGTCTCTCTCTcctggtggctcatgcctgtaatcccagcactttgggaggccaaggcagacGaattgcttgagctcaggggttcaagaccagcctgggaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAcagacgagtggtAGATCGAGACCCGACGC chr2:73026969-Reference-G;Patient-91 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Variant G ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CTGCTGTTGCGT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAActgctgttgcgtAGATCGAGACCCGACGC chr2:73072170-Variant-G;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative T ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga AAGATATCAGCG CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAaagatatcagcgAGATCGAGACCCGACGC chr2:73072170-Alternative-T;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Variant G ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga AGCGCGAATCGA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAagcgcgaatcgaAGATCGAGACCCGACGC chr2:73072170-Variant-G;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Variant G ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GATCATGCTCGG CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgatcatgctcggAGATCGAGACCCGACGC chr2:73072170-Variant-G;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative C ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga AGCTCGACAGAT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAagctcgacagatAGATCGAGACCCGACGC chr2:73072170-Alternative-C;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative T ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CGCAGACGACAT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcgcagacgacatAGATCGAGACCCGACGC chr2:73072170-Alternative-T;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative T ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GACCTTGCTACA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgaccttgctacaAGATCGAGACCCGACGC chr2:73072170-Alternative-T;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Reference A ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GTAGTCAATCGT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgtagtcaatcgtAGATCGAGACCCGACGC chr2:73072170-Reference-A;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative T ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CTACGGACAGCA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAActacggacagcaAGATCGAGACCCGACGC chr2:73072170-Alternative-T;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative T ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CGTAGACGGCAA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctTttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcgtagacggcaaAGATCGAGACCCGACGC chr2:73072170-Alternative-T;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Reference A ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CATCGCTAACTT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcatcgctaacttAGATCGAGACCCGACGC chr2:73072170-Reference-A;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative C ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CACGCTCGTAGT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcacgctcgtagtAGATCGAGACCCGACGC chr2:73072170-Alternative-C;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative C ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CAGATCCAGGAC CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcagatccaggacAGATCGAGACCCGACGC chr2:73072170-Alternative-C;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Reference A ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga AATAGCACGTTC CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAaatagcacgttcAGATCGAGACCCGACGC chr2:73072170-Reference-A;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Reference A ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GTCGGCATCGAA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgtcggcatcgaaAGATCGAGACCCGACGC chr2:73072170-Reference-A;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative C ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GTTGGCATGCGT CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgttggcatgcgtAGATCGAGACCCGACGC chr2:73072170-Alternative-C;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Reference A ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga ACTTGGTTCCGG CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctAttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAacttggttccggAGATCGAGACCCGACGC chr2:73072170-Reference-A;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Alternative C ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga GATTAGACAACG CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctCttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAgattagacaacgAGATCGAGACCCGACGC chr2:73072170-Alternative-C;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Variant G ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CTTGAGCCGCTA CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAActtgagccgctaAGATCGAGACCCGACGC chr2:73072170-Variant-G;Patient-83 chr2:73072170-AG DeNovo Patient-83 intergenic NA 0.000513 -0.04 2.1 -1.49 EXOC6B 18992 Variant G ataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctga CGGCGATAGAAG CGACGCGGTCTCTCTCTataagtagtgcttgataaacgttggctattttatttcatttgctgttgctGttgtaattgttgttgttgatattacttgtcaggcatacttagatgctgaAGAGGGAGACGGACGTCTCAATAAcggcgatagaagAGATCGAGACCCGACGC chr2:73072170-Variant-G;Patient-83 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative T tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACATGCTCGTAA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAacatgctcgtaaAGATCGAGACCCGACGC chr2:73528820-Alternative-T;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative T tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CTGCGTCTGAGT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAActgcgtctgagtAGATCGAGACCCGACGC chr2:73528820-Alternative-T;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative T tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CTGTGCGATCGT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAActgtgcgatcgtAGATCGAGACCCGACGC chr2:73528820-Alternative-T;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Variant C tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc GATCAACGAGCG CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAgatcaacgagcgAGATCGAGACCCGACGC chr2:73528820-Variant-C;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative A tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc AGCTACACAGCT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAagctacacagctAGATCGAGACCCGACGC chr2:73528820-Alternative-A;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative T tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc GATGCCGAACAC CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAgatgccgaacacAGATCGAGACCCGACGC chr2:73528820-Alternative-T;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative A tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc AATCGAGGTGAA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAaatcgaggtgaaAGATCGAGACCCGACGC chr2:73528820-Alternative-A;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative T tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc AGTACTTACGCA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaTgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAagtacttacgcaAGATCGAGACCCGACGC chr2:73528820-Alternative-T;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative A tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CGTTAGTTGAGA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAcgttagttgagaAGATCGAGACCCGACGC chr2:73528820-Alternative-A;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative A tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc GTCATCGTGCGA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAgtcatcgtgcgaAGATCGAGACCCGACGC chr2:73528820-Alternative-A;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Reference G tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACTCTCTGAGCG CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAactctctgagcgAGATCGAGACCCGACGC chr2:73528820-Reference-G;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Reference G tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CGTTGTCGTATT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAcgttgtcgtattAGATCGAGACCCGACGC chr2:73528820-Reference-G;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Variant C tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACAAGGTCACTT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAacaaggtcacttAGATCGAGACCCGACGC chr2:73528820-Variant-C;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Variant C tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACTCCGGTAGTC CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAactccggtagtcAGATCGAGACCCGACGC chr2:73528820-Variant-C;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Variant C tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CGTTGGTGGAGA CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAcgttggtggagaAGATCGAGACCCGACGC chr2:73528820-Variant-C;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Reference G tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc CTCTCTGAAGCG CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAActctctgaagcgAGATCGAGACCCGACGC chr2:73528820-Reference-G;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Alternative A tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACCGAACGTGGT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaAgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAaccgaacgtggtAGATCGAGACCCGACGC chr2:73528820-Alternative-A;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Variant C tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc AGGTGAGCTAAG CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaCgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAaggtgagctaagAGATCGAGACCCGACGC chr2:73528820-Variant-C;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Reference G tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ACTATTGTGACG CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAactattgtgacgAGATCGAGACCCGACGC chr2:73528820-Reference-G;Patient-61 chr2:73528820-GC Inherited Patient-61 intergenic 0.000488 0.000513 -0.48 0.1 -1.98 ALMS1 84065 Reference G tgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctacc ATACGCGGATAT CGACGCGGTCTCTCTCTtgaagcacaggcacttgctacaaaaaaaaaaaaaaaaaaaaaaaaggcgaGgttagaaacaatatatgcagttaagaaatgatgagtaattcttcctaccAGAGGGAGACGGACGTCTCAATAAatacgcggatatAGATCGAGACCCGACGC chr2:73528820-Reference-G;Patient-61 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative A cacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GATCATCGAATC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgatcatcgaatcAGATCGAGACCCGACGC chr2:74910883-Alternative-A;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Variant T cacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GTTGGAACTATC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgttggaactatcAGATCGAGACCCGACGC chr2:74910883-Variant-T;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative G cacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GTAGTCAACGGC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgtagtcaacggcAGATCGAGACCCGACGC chr2:74910883-Alternative-G;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative A cacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttaga CTTACGCGGACA CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAActtacgcggacaAGATCGAGACCCGACGC chr2:74910883-Alternative-A;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Variant T cacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga ATTCGCGCGTAC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAattcgcgcgtacAGATCGAGACCCGACGC chr2:74910883-Variant-T;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Variant T cacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga AGGCTGAACAAT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAaggctgaacaatAGATCGAGACCCGACGC chr2:74910883-Variant-T;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative G cacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GACGCGGTGTAA CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgacgcggtgtaaAGATCGAGACCCGACGC chr2:74910883-Alternative-G;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative G cacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga AAGCGCGAACGT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAaagcgcgaacgtAGATCGAGACCCGACGC chr2:74910883-Alternative-G;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Variant T cacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga CTCTACGCATGC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAActctacgcatgcAGATCGAGACCCGACGC chr2:74910883-Variant-T;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative G cacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga ACGGTGTTAACT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAacggtgttaactAGATCGAGACCCGACGC chr2:74910883-Alternative-G;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Reference C cacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga ACGACTTCATTC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAacgacttcattcAGATCGAGACCCGACGC chr2:74910883-Reference-C;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative G cacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga CAAGCTATACAG CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacGctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAcaagctatacagAGATCGAGACCCGACGC chr2:74910883-Alternative-G;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Reference C cacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GGTAGCCGAATC CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAggtagccgaatcAGATCGAGACCCGACGC chr2:74910883-Reference-C;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative A cacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GTCAATAATCGG CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgtcaataatcggAGATCGAGACCCGACGC chr2:74910883-Alternative-A;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Variant T cacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GATGGTATCACG CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacTctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgatggtatcacgAGATCGAGACCCGACGC chr2:74910883-Variant-T;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Reference C cacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga CGGAGTGGTTGT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAcggagtggttgtAGATCGAGACCCGACGC chr2:74910883-Reference-C;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative A cacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GACGCATGTTAT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgacgcatgttatAGATCGAGACCCGACGC chr2:74910883-Alternative-A;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Reference C cacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga AACCAATTCGGT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAaaccaattcggtAGATCGAGACCCGACGC chr2:74910883-Reference-C;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Alternative A cacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttaga GTTGTAATCGAG CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacActgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAAgttgtaatcgagAGATCGAGACCCGACGC chr2:74910883-Alternative-A;Patient-75 chr2:74910883-CT DeNovo Patient-75 exonic SEMA4F NA 0.000513 0.27 6.77 2.64 SEMA4F 29527 Reference C cacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttaga CTATCGAGCGGT CGACGCGGTCTCTCTCTcacatgagccccctggattcatgtggaattcttgggagagggatgaccacCctgaagatggctgagatcaaatatctcatcagatgactggatgcttagaAGAGGGAGACGGACGTCTCAATAActatcgagcggtAGATCGAGACCCGACGC chr2:74910883-Reference-C;Patient-75 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative A attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag ACCGTAGACGCT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAaccgtagacgctAGATCGAGACCCGACGC chr2:75017793-Alternative-A;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative A attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CGATCACACCTT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAcgatcacaccttAGATCGAGACCCGACGC chr2:75017793-Alternative-A;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative A attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CAGCACGTATAT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAcagcacgtatatAGATCGAGACCCGACGC chr2:75017793-Alternative-A;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative A attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GTACAGTTGAGA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAgtacagttgagaAGATCGAGACCCGACGC chr2:75017793-Alternative-A;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Reference G attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag ACGAATCGTGAT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAacgaatcgtgatAGATCGAGACCCGACGC chr2:75017793-Reference-G;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative C attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CAGTATGGTTCA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAcagtatggttcaAGATCGAGACCCGACGC chr2:75017793-Alternative-C;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Reference G attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag AACCGGACGTCA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAaaccggacgtcaAGATCGAGACCCGACGC chr2:75017793-Reference-G;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Variant T attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag AGCGGTCCTGAT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAagcggtcctgatAGATCGAGACCCGACGC chr2:75017793-Variant-T;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative C attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GGAGGTAACGTC CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAggaggtaacgtcAGATCGAGACCCGACGC chr2:75017793-Alternative-C;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative A attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GAATCGTTGGAA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaAacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAgaatcgttggaaAGATCGAGACCCGACGC chr2:75017793-Alternative-A;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative C attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GTACGACATACG CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAgtacgacatacgAGATCGAGACCCGACGC chr2:75017793-Alternative-C;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Variant T attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GTTGTAGTCTTC CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAgttgtagtcttcAGATCGAGACCCGACGC chr2:75017793-Variant-T;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative C attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GGTTCCGCGTAT CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAggttccgcgtatAGATCGAGACCCGACGC chr2:75017793-Alternative-C;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Alternative C attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CGTAGACATGAA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaCacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAcgtagacatgaaAGATCGAGACCCGACGC chr2:75017793-Alternative-C;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Variant T attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CTGTCATGTTCA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAActgtcatgttcaAGATCGAGACCCGACGC chr2:75017793-Variant-T;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Reference G attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GGCGTACAGTAC CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAggcgtacagtacAGATCGAGACCCGACGC chr2:75017793-Reference-G;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Variant T attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag AGTCGCTTCGTC CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAagtcgcttcgtcAGATCGAGACCCGACGC chr2:75017793-Variant-T;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Reference G attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag ATTGTGAGGTCA CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAattgtgaggtcaAGATCGAGACCCGACGC chr2:75017793-Reference-G;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Variant T attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag CGCATTGGAAGG CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaTacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAcgcattggaaggAGATCGAGACCCGACGC chr2:75017793-Variant-T;Patient-32 chr2:75017793-GT DeNovo Patient-32 intergenic NA 0.000512821 -0.03 2.21 0.61 HK2 41988 Reference G attacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcag GGATATACGTCC CGACGCGGTCTCTCTCTattacaggtgtccaccaccatgcctggctactttttgtatttttagtagaGacagggtttcatcatgttggccaggctggtcatgaactcctgacctcagAGAGGGAGACGGACGTCTCAATAAggatatacgtccAGATCGAGACCCGACGC chr2:75017793-Reference-G;Patient-32 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Variant T ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GCAACGTCACGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgcaacgtcacgtAGATCGAGACCCGACGC chr2:84664452-Variant-T;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Reference C ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GTCTAGCTGCGA CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgtctagctgcgaAGATCGAGACCCGACGC chr2:84664452-Reference-C;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Variant T ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg AGTAGCCATTGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAagtagccattgtAGATCGAGACCCGACGC chr2:84664452-Variant-T;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative A ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg AGTCGCGATCGA CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAagtcgcgatcgaAGATCGAGACCCGACGC chr2:84664452-Alternative-A;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Variant T ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg AGTGCGGATTGC CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAagtgcggattgcAGATCGAGACCCGACGC chr2:84664452-Variant-T;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Variant T ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GACGTTGCGGAT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgacgttgcggatAGATCGAGACCCGACGC chr2:84664452-Variant-T;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative A ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg ATTACTCGTACC CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAattactcgtaccAGATCGAGACCCGACGC chr2:84664452-Alternative-A;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Reference C ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CGGAGCCAATGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcggagccaatgtAGATCGAGACCCGACGC chr2:84664452-Reference-C;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative A ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CACGTCGTCTAC CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcacgtcgtctacAGATCGAGACCCGACGC chr2:84664452-Alternative-A;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Variant T ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GATGGTTGGATT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacTataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgatggttggattAGATCGAGACCCGACGC chr2:84664452-Variant-T;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative G ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CAGCTTATGAGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcagcttatgagtAGATCGAGACCCGACGC chr2:84664452-Alternative-G;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative G ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg AGTGATAGCCAT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAagtgatagccatAGATCGAGACCCGACGC chr2:84664452-Alternative-G;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Reference C ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg AAGGTAGGCATT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAaaggtaggcattAGATCGAGACCCGACGC chr2:84664452-Reference-C;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative A ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg ATCTGTGCTCAT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAatctgtgctcatAGATCGAGACCCGACGC chr2:84664452-Alternative-A;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative G ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GTCGGAGATGGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgtcggagatggtAGATCGAGACCCGACGC chr2:84664452-Alternative-G;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative G ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg GTTACTCTATGG CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAgttactctatggAGATCGAGACCCGACGC chr2:84664452-Alternative-G;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Reference C ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CATAGTGGTCGC CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcatagtggtcgcAGATCGAGACCCGACGC chr2:84664452-Reference-C;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative A ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CGGAAGCTCAGT CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacAataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcggaagctcagtAGATCGAGACCCGACGC chr2:84664452-Alternative-A;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Alternative G ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CATTATAGTCGG CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacGataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcattatagtcggAGATCGAGACCCGACGC chr2:84664452-Alternative-G;Patient-15 chr2:84664452-CT DeNovo Patient-15 intronic SUCLG1 0.000191 0.000123 -0.02 2.39 -1.51 SUCLG1 22133 Reference C ccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggaggg CGAGCAACCGAA CGACGCGGTCTCTCTCTccagcaaagtattagtatctagaacatacaaagaactgtaaaaaataaacCataaaaatgtaaacaatccaattagaacatgggcaaaacccaaggagggAGAGGGAGACGGACGTCTCAATAAcgagcaaccgaaAGATCGAGACCCGACGC chr2:84664452-Reference-C;Patient-15 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative A gatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccag AAGCATGTCGTT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAaagcatgtcgttAGATCGAGACCCGACGC chr2:85671578-Alternative-A;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Reference C gatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GTCTATACATGG CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgtctatacatggAGATCGAGACCCGACGC chr2:85671578-Reference-C;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative A gatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccag ACCGTATTAGGT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAaccgtattaggtAGATCGAGACCCGACGC chr2:85671578-Alternative-A;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Variant T gatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccag ACCTTGGTGAAC CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAaccttggtgaacAGATCGAGACCCGACGC chr2:85671578-Variant-T;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative G gatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccag ATCAAGTCATCG CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAatcaagtcatcgAGATCGAGACCCGACGC chr2:85671578-Alternative-G;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Reference C gatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccag AGAGCATACGCG CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAagagcatacgcgAGATCGAGACCCGACGC chr2:85671578-Reference-C;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Reference C gatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccag CGCCTTGAGCTA CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAcgccttgagctaAGATCGAGACCCGACGC chr2:85671578-Reference-C;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Variant T gatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccag ATCTCAATGTGG CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAatctcaatgtggAGATCGAGACCCGACGC chr2:85671578-Variant-T;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative A gatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccag CGATTAACGACT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAcgattaacgactAGATCGAGACCCGACGC chr2:85671578-Alternative-A;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative A gatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccag GTAATGACGCGA CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgtaatgacgcgaAGATCGAGACCCGACGC chr2:85671578-Alternative-A;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Variant T gatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccag AGATGCGTCGCT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAagatgcgtcgctAGATCGAGACCCGACGC chr2:85671578-Variant-T;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Variant T gatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccag ATCTGCATGACA CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAatctgcatgacaAGATCGAGACCCGACGC chr2:85671578-Variant-T;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative G gatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GGCTGTCTAACG CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAggctgtctaacgAGATCGAGACCCGACGC chr2:85671578-Alternative-G;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative G gatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccag CATATAACGCGA CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAcatataacgcgaAGATCGAGACCCGACGC chr2:85671578-Alternative-G;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Variant T gatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccag CAAGGTATCGGC CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgTctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAcaaggtatcggcAGATCGAGACCCGACGC chr2:85671578-Variant-T;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Reference C gatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GTGACATGACTT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgtgacatgacttAGATCGAGACCCGACGC chr2:85671578-Reference-C;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative G gatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GCCGGTGGTATT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgccggtggtattAGATCGAGACCCGACGC chr2:85671578-Alternative-G;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative A gatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccag GACATAGAGCGA CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgActctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgacatagagcgaAGATCGAGACCCGACGC chr2:85671578-Alternative-A;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Alternative G gatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GATTACGCGAAT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgGctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgattacgcgaatAGATCGAGACCCGACGC chr2:85671578-Alternative-G;Patient-87 chr2:85671578-CT Inherited Patient-87 intergenic NA 0.000513 0.05 3.44 1.05 RETSAT 89756 Reference C gatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccag GCACGCAATGGT CGACGCGGTCTCTCTCTgatccctaagggcctttccaactccagtattcctactgcctgggactatgCctctctcacagcctgggctgcctcccaactcccaccctactcaccccagAGAGGGAGACGGACGTCTCAATAAgcacgcaatggtAGATCGAGACCCGACGC chr2:85671578-Reference-C;Patient-87 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Variant T cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GATTACGACGAA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgattacgacgaaAGATCGAGACCCGACGC chr2:85984313-Variant-T;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Reference C cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GTTCCAATCGAA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgttccaatcgaaAGATCGAGACCCGACGC chr2:85984313-Reference-C;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Variant T cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CATCGATAATCG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAcatcgataatcgAGATCGAGACCCGACGC chr2:85984313-Variant-T;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Variant T cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc ATTGTGGTATGG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAattgtggtatggAGATCGAGACCCGACGC chr2:85984313-Variant-T;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative A cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AGGCTTGTTAGA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAaggcttgttagaAGATCGAGACCCGACGC chr2:85984313-Alternative-A;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Variant T cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc ACACCAACGGAG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAacaccaacggagAGATCGAGACCCGACGC chr2:85984313-Variant-T;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Variant T cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AGTCGTACATCA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaTctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAagtcgtacatcaAGATCGAGACCCGACGC chr2:85984313-Variant-T;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative A cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CGTAGTTGTGCG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAcgtagttgtgcgAGATCGAGACCCGACGC chr2:85984313-Alternative-A;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative G cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GATTGGATAGCT CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgattggatagctAGATCGAGACCCGACGC chr2:85984313-Alternative-G;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Reference C cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AGCCAATCTAGG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAagccaatctaggAGATCGAGACCCGACGC chr2:85984313-Reference-C;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative A cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AGCTCCGATGCA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAagctccgatgcaAGATCGAGACCCGACGC chr2:85984313-Alternative-A;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative A cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GTTGTTCCATAC CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgttgttccatacAGATCGAGACCCGACGC chr2:85984313-Alternative-A;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative G cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AGCGGACCTATA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAagcggacctataAGATCGAGACCCGACGC chr2:85984313-Alternative-G;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Reference C cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GTTACGCAACGG CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgttacgcaacggAGATCGAGACCCGACGC chr2:85984313-Reference-C;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Reference C cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CGTAGTTATCGA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAcgtagttatcgaAGATCGAGACCCGACGC chr2:85984313-Reference-C;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative G cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc AACAATAGACGC CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAaacaatagacgcAGATCGAGACCCGACGC chr2:85984313-Alternative-G;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative G cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CATTAGCCTGAA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAcattagcctgaaAGATCGAGACCCGACGC chr2:85984313-Alternative-G;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative A cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc GCCAAGTTCGCA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaActgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAgccaagttcgcaAGATCGAGACCCGACGC chr2:85984313-Alternative-A;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Reference C cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CTAAGTGCTACA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaCctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAActaagtgctacaAGATCGAGACCCGACGC chr2:85984313-Reference-C;Patient-19 chr2:85984313-CT DeNovo Patient-19 intronic ATOH8 3.2e-05 4.95e-05 0.04 3.32 -1.35 ATOH8 3403 Alternative G cctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtc CGATTAGATCGA CGACGCGGTCTCTCTCTcctagccattctgccccttccccagaaaggctgccaggccatagtgggcaGctgcctgttagctgggaaggaaagaaatacagccaggacgtttctggtcAGAGGGAGACGGACGTCTCAATAAcgattagatcgaAGATCGAGACCCGACGC chr2:85984313-Alternative-G;Patient-19 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative A ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GTCATACGTCGG CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAgtcatacgtcggAGATCGAGACCCGACGC chr2:86004531-Alternative-A;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative A ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ACGATATGACGA CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAacgatatgacgaAGATCGAGACCCGACGC chr2:86004531-Alternative-A;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative A ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa AAGTCGAACGAT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAaagtcgaacgatAGATCGAGACCCGACGC chr2:86004531-Alternative-A;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative T ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa CAATAGGTCTGA CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAcaataggtctgaAGATCGAGACCCGACGC chr2:86004531-Alternative-T;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative T ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ACCGTCAAGTTA CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAaccgtcaagttaAGATCGAGACCCGACGC chr2:86004531-Alternative-T;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative A ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ATAGCGTCAGAA CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAatagcgtcagaaAGATCGAGACCCGACGC chr2:86004531-Alternative-A;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Variant C ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa CGGTCGGTATGA CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAcggtcggtatgaAGATCGAGACCCGACGC chr2:86004531-Variant-C;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative T ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ATACTACCAGGT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAatactaccaggtAGATCGAGACCCGACGC chr2:86004531-Alternative-T;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative A ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GGTTCCGAGTGT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcAaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAggttccgagtgtAGATCGAGACCCGACGC chr2:86004531-Alternative-A;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Variant C ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GTGTATGGCGAG CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAgtgtatggcgagAGATCGAGACCCGACGC chr2:86004531-Variant-C;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Variant C ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ACGTCACCGCTT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAacgtcaccgcttAGATCGAGACCCGACGC chr2:86004531-Variant-C;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative T ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GCGAATACCAAT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAgcgaataccaatAGATCGAGACCCGACGC chr2:86004531-Alternative-T;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Variant C ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa AGTGTCGCAATT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAagtgtcgcaattAGATCGAGACCCGACGC chr2:86004531-Variant-C;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Reference G ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa AGACTATCGCGT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAagactatcgcgtAGATCGAGACCCGACGC chr2:86004531-Reference-G;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Alternative T ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GAATCATCTAGG CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcTaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAgaatcatctaggAGATCGAGACCCGACGC chr2:86004531-Alternative-T;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Variant C ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa CGATGTAGTGGT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcCaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAcgatgtagtggtAGATCGAGACCCGACGC chr2:86004531-Variant-C;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Reference G ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GTGACATCGGTT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAgtgacatcggttAGATCGAGACCCGACGC chr2:86004531-Reference-G;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Reference G ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GGATCAACGCTT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAggatcaacgcttAGATCGAGACCCGACGC chr2:86004531-Reference-G;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Reference G ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa ACCGTTAACAGT CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAaccgttaacagtAGATCGAGACCCGACGC chr2:86004531-Reference-G;Patient-21 chr2:86004531-GC DeNovo Patient-21 intronic ATOH8 NA 4.95e-05 -0.15 1.01 -2.7 ATOH8 23621 Reference G ccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaa GGATATTCTGAC CGACGCGGTCTCTCTCTccatggagcaggtacagagatagcacccagaatcagccagtggcctcatcGaataagaagaaatagacgcatgataaagaacaaggccagaggctcagaaAGAGGGAGACGGACGTCTCAATAAggatattctgacAGATCGAGACCCGACGC chr2:86004531-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Reference G gaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CATGTTGGTAGT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAcatgttggtagtAGATCGAGACCCGACGC chr2:86130862-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Variant T gaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CGCTATACTAAC CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAcgctatactaacAGATCGAGACCCGACGC chr2:86130862-Variant-T;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Reference G gaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg GAGAGTCCGCTT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAgagagtccgcttAGATCGAGACCCGACGC chr2:86130862-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Variant T gaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CGAGTCCTTGGT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAcgagtccttggtAGATCGAGACCCGACGC chr2:86130862-Variant-T;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Variant T gaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg ATAGGACTCACA CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAataggactcacaAGATCGAGACCCGACGC chr2:86130862-Variant-T;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative A gaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AACCGTTACCGA CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaaccgttaccgaAGATCGAGACCCGACGC chr2:86130862-Alternative-A;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Variant T gaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CTCAACGCGAGA CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAActcaacgcgagaAGATCGAGACCCGACGC chr2:86130862-Variant-T;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Variant T gaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CGAGCGGTTGAT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcTttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAcgagcggttgatAGATCGAGACCCGACGC chr2:86130862-Variant-T;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative A gaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AAGTTGAGCGAA CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaagttgagcgaaAGATCGAGACCCGACGC chr2:86130862-Alternative-A;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative A gaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AGATAGCCGACG CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAagatagccgacgAGATCGAGACCCGACGC chr2:86130862-Alternative-A;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Reference G gaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg CATTATGACCGG CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAcattatgaccggAGATCGAGACCCGACGC chr2:86130862-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Reference G gaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg GCAACGTGGTCT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAgcaacgtggtctAGATCGAGACCCGACGC chr2:86130862-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative C gaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AGTGTAACAACG CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAagtgtaacaacgAGATCGAGACCCGACGC chr2:86130862-Alternative-C;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative A gaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg ACTAGATCCGCA CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAactagatccgcaAGATCGAGACCCGACGC chr2:86130862-Alternative-A;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Reference G gaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg GGTGTCTTCGTC CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcGttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAggtgtcttcgtcAGATCGAGACCCGACGC chr2:86130862-Reference-G;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative C gaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AATGAGTGCGAG CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaatgagtgcgagAGATCGAGACCCGACGC chr2:86130862-Alternative-C;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative C gaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg ACTAACGGAGGT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAactaacggaggtAGATCGAGACCCGACGC chr2:86130862-Alternative-C;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative A gaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AACCGCACGAAC CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcAttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaaccgcacgaacAGATCGAGACCCGACGC chr2:86130862-Alternative-A;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative C gaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AACGTGTCTCTT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaacgtgtctcttAGATCGAGACCCGACGC chr2:86130862-Alternative-C;Patient-21 chr2:86130862-GT Inherited Patient-21 intergenic 0.000159 0.000512821 -0.09 1.46 -2.78 ST3GAL5 14704 Alternative C gaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaaggg AACACAGATCCT CGACGCGGTCTCTCTCTgaggttggggccagagttcccacaacttataaattgttccatcccctggcCttttcctctgtgcgtggatctcccctaccccacggaccttgaacaagggAGAGGGAGACGGACGTCTCAATAAaacacagatcctAGATCGAGACCCGACGC chr2:86130862-Alternative-C;Patient-21 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative T cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacact CGTTATGCTGAA CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAcgttatgctgaaAGATCGAGACCCGACGC chr2:86134142-Alternative-T;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative T cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacact GATTGACTGAAC CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAgattgactgaacAGATCGAGACCCGACGC chr2:86134142-Alternative-T;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Variant A cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacact CGTTGCGTGCTT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAcgttgcgtgcttAGATCGAGACCCGACGC chr2:86134142-Variant-A;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative C cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacact CTAAGGAGATGG CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAActaaggagatggAGATCGAGACCCGACGC chr2:86134142-Alternative-C;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Variant A cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacact AGGCTTAGTCAT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAaggcttagtcatAGATCGAGACCCGACGC chr2:86134142-Variant-A;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Variant A cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacact CTTGCCTTACGC CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAActtgccttacgcAGATCGAGACCCGACGC chr2:86134142-Variant-A;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative C cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacact AAGATCGAACAC CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAaagatcgaacacAGATCGAGACCCGACGC chr2:86134142-Alternative-C;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Variant A cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacact ACCGGTTGCATC CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAaccggttgcatcAGATCGAGACCCGACGC chr2:86134142-Variant-A;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Variant A cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacact ACGCGAATAACA CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaAtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAacgcgaataacaAGATCGAGACCCGACGC chr2:86134142-Variant-A;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative C cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacact ATCCGATCAACT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAatccgatcaactAGATCGAGACCCGACGC chr2:86134142-Alternative-C;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative T cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacact ACACGTATGCTA CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAacacgtatgctaAGATCGAGACCCGACGC chr2:86134142-Alternative-T;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative T cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacact AGCTATGGACTA CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAagctatggactaAGATCGAGACCCGACGC chr2:86134142-Alternative-T;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative C cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacact GTGCTTATATGG CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAgtgcttatatggAGATCGAGACCCGACGC chr2:86134142-Alternative-C;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative T cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacact AATAGCGTGCGG CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaTtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAaatagcgtgcggAGATCGAGACCCGACGC chr2:86134142-Alternative-T;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Reference G cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacact CTCTACTCCGGT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAActctactccggtAGATCGAGACCCGACGC chr2:86134142-Reference-G;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Alternative C cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacact GATACTGGACTT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaCtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAgatactggacttAGATCGAGACCCGACGC chr2:86134142-Alternative-C;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Reference G cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacact ACACATCGAGCG CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAacacatcgagcgAGATCGAGACCCGACGC chr2:86134142-Reference-G;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Reference G cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacact GCCAATACATTC CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAgccaatacattcAGATCGAGACCCGACGC chr2:86134142-Reference-G;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Reference G cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacact CATTAGCAGTGT CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAcattagcagtgtAGATCGAGACCCGACGC chr2:86134142-Reference-G;Patient-87 chr2:86134142-GA Inherited Patient-87 intergenic NA 0.000513 0.28 6.91 2.68 ST3GAL5 17984 Reference G cgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacact AGCTGTGTTCGG CGACGCGGTCTCTCTCTcgctgtggcccctgtgcagtgagaaaggctgggagtccctgagtttagcaGtcagtgacatctgtcctccatctctgttttccattccacaccccacactAGAGGGAGACGGACGTCTCAATAAagctgtgttcggAGATCGAGACCCGACGC chr2:86134142-Reference-G;Patient-87 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative G gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CGTTCATGTCAT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAcgttcatgtcatAGATCGAGACCCGACGC chr2:86236619-Alternative-G;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Variant A gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CTATGTCAAGCA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAActatgtcaagcaAGATCGAGACCCGACGC chr2:86236619-Variant-A;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Reference C gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GATGTAAGGCTT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAgatgtaaggcttAGATCGAGACCCGACGC chr2:86236619-Reference-C;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Reference C gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ATCGGTATTCGA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAatcggtattcgaAGATCGAGACCCGACGC chr2:86236619-Reference-C;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Reference C gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ATCGCGGCTATC CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAatcgcggctatcAGATCGAGACCCGACGC chr2:86236619-Reference-C;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Reference C gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg AGACGCTTCGAC CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAagacgcttcgacAGATCGAGACCCGACGC chr2:86236619-Reference-C;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative G gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ATAGTACCGCCT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAatagtaccgcctAGATCGAGACCCGACGC chr2:86236619-Alternative-G;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative G gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ACCTTAAGGTCA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAaccttaaggtcaAGATCGAGACCCGACGC chr2:86236619-Alternative-G;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Reference C gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CGCGATGTGAGT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaCatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAcgcgatgtgagtAGATCGAGACCCGACGC chr2:86236619-Reference-C;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Variant A gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GGACTTAGTTGT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAggacttagttgtAGATCGAGACCCGACGC chr2:86236619-Variant-A;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative G gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CAACTAGTCGAA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAcaactagtcgaaAGATCGAGACCCGACGC chr2:86236619-Alternative-G;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative T gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CTTGCTTCAGAT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAActtgcttcagatAGATCGAGACCCGACGC chr2:86236619-Alternative-T;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative T gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GACGATCTTAGT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAgacgatcttagtAGATCGAGACCCGACGC chr2:86236619-Alternative-T;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative T gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ACGAGAGTATCA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAacgagagtatcaAGATCGAGACCCGACGC chr2:86236619-Alternative-T;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative G gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg CGAATCATGTCA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaGatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAcgaatcatgtcaAGATCGAGACCCGACGC chr2:86236619-Alternative-G;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Variant A gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GTGCGAAGTTAT CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAgtgcgaagttatAGATCGAGACCCGACGC chr2:86236619-Variant-A;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Variant A gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GGAGACTGCGAA CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAggagactgcgaaAGATCGAGACCCGACGC chr2:86236619-Variant-A;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Variant A gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg AAGATATCTCGG CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaAatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAaagatatctcggAGATCGAGACCCGACGC chr2:86236619-Variant-A;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative T gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg GGACCTATTCGG CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAggacctattcggAGATCGAGACCCGACGC chr2:86236619-Alternative-T;Patient-59 chr2:86236619-CA DeNovo Patient-59 intergenic NA 0.000513 0.12 4.67 0 POLR1A 96658 Alternative T gccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtg ATCCTGACTAAG CGACGCGGTCTCTCTCTgccgaggtgggcagatcaccaggtcaggagatccagaccatactggccaaTatggtgaaatccctgtctctactcaatatacaaaaattatcctggcgtgAGAGGGAGACGGACGTCTCAATAAatcctgactaagAGATCGAGACCCGACGC chr2:86236619-Alternative-T;Patient-59 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative C tgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CGTTCCGCGTAA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcgttccgcgtaaAGATCGAGACCCGACGC chr2:86552071-Alternative-C;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative C tgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatc AACCGACTGTGC CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAaaccgactgtgcAGATCGAGACCCGACGC chr2:86552071-Alternative-C;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative C tgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatc GATACGCTCGGT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAgatacgctcggtAGATCGAGACCCGACGC chr2:86552071-Alternative-C;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative C tgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ACATCGAAGGCA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAacatcgaaggcaAGATCGAGACCCGACGC chr2:86552071-Alternative-C;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative C tgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CACATAGTGACT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcCtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcacatagtgactAGATCGAGACCCGACGC chr2:86552071-Alternative-C;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative G tgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CGGACAGTTGGT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcggacagttggtAGATCGAGACCCGACGC chr2:86552071-Alternative-G;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Reference T tgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ATACTTCCGGTT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAatacttccggttAGATCGAGACCCGACGC chr2:86552071-Reference-T;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative G tgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CGATACGTTCTT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcgatacgttcttAGATCGAGACCCGACGC chr2:86552071-Alternative-G;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Reference T tgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatc AATAGTTCCGAC CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAaatagttccgacAGATCGAGACCCGACGC chr2:86552071-Reference-T;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Reference T tgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CTTATGCTTGCA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAActtatgcttgcaAGATCGAGACCCGACGC chr2:86552071-Reference-T;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Variant A tgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatc GATTGCGATCTA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAgattgcgatctaAGATCGAGACCCGACGC chr2:86552071-Variant-A;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Reference T tgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ATCTGTAGTGCA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAatctgtagtgcaAGATCGAGACCCGACGC chr2:86552071-Reference-T;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Variant A tgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CGTTCGAATACT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcgttcgaatactAGATCGAGACCCGACGC chr2:86552071-Variant-A;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative G tgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatc GTACAGTGGTGG CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAgtacagtggtggAGATCGAGACCCGACGC chr2:86552071-Alternative-G;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Variant A tgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ATAGACCGCCGT CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAatagaccgccgtAGATCGAGACCCGACGC chr2:86552071-Variant-A;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Variant A tgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CATCTTCGATCA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcatcttcgatcaAGATCGAGACCCGACGC chr2:86552071-Variant-A;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative G tgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatc GCGAATGGTATA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAgcgaatggtataAGATCGAGACCCGACGC chr2:86552071-Alternative-G;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Alternative G tgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ACTGCGGTGTGA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcGtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAactgcggtgtgaAGATCGAGACCCGACGC chr2:86552071-Alternative-G;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Reference T tgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatc ACTTCGGCGCAA CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcTtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAacttcggcgcaaAGATCGAGACCCGACGC chr2:86552071-Reference-T;Patient-86 chr2:86552071-TA DeNovo Patient-86 intronic REEP1 NA 4.95e-05 0.2 5.88 1.3 REEP1 13134 Variant A tgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatc CGTGTTATCACG CGACGCGGTCTCTCTCTtgataagtacattatggtatattcatacaataaaggtagtgttctagttcAtaaactggcgatgagtaaatgagggttcactgtactattatccattatcAGAGGGAGACGGACGTCTCAATAAcgtgttatcacgAGATCGAGACCCGACGC chr2:86552071-Variant-A;Patient-86 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative G aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CAATAGACATCG CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcaatagacatcgAGATCGAGACCCGACGC chr2:88038126-Alternative-G;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative G aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CGTGAATACCGC CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcgtgaataccgcAGATCGAGACCCGACGC chr2:88038126-Alternative-G;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative T aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GATCGACTATGT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAgatcgactatgtAGATCGAGACCCGACGC chr2:88038126-Alternative-T;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative T aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CGATACGCTTAA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcgatacgcttaaAGATCGAGACCCGACGC chr2:88038126-Alternative-T;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative G aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta ACTCGGAATACT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAactcggaatactAGATCGAGACCCGACGC chr2:88038126-Alternative-G;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative T aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta AATAGGACCACA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAaataggaccacaAGATCGAGACCCGACGC chr2:88038126-Alternative-T;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative G aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta ATAACTGGCGGC CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAataactggcggcAGATCGAGACCCGACGC chr2:88038126-Alternative-G;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative T aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta AGCAACACGGAC CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAagcaacacggacAGATCGAGACCCGACGC chr2:88038126-Alternative-T;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative T aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GCAATCGCACCT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcTtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAgcaatcgcacctAGATCGAGACCCGACGC chr2:88038126-Alternative-T;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Alternative G aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GGCGAAGGATGT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcGtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAggcgaaggatgtAGATCGAGACCCGACGC chr2:88038126-Alternative-G;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Reference A aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CGCGTACCACAT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcgcgtaccacatAGATCGAGACCCGACGC chr2:88038126-Reference-A;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Reference A aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CAGATCAACATC CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcagatcaacatcAGATCGAGACCCGACGC chr2:88038126-Reference-A;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Reference A aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GGTAACAATACG CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAggtaacaatacgAGATCGAGACCCGACGC chr2:88038126-Reference-A;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Reference A aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GATAGCAAGCGA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAgatagcaagcgaAGATCGAGACCCGACGC chr2:88038126-Reference-A;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Reference A aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GACGCTATGTAA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcAtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAgacgctatgtaaAGATCGAGACCCGACGC chr2:88038126-Reference-A;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Variant C aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta GCATTCGTGTAA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAgcattcgtgtaaAGATCGAGACCCGACGC chr2:88038126-Variant-C;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Variant C aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CGCTATAGCGGT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcgctatagcggtAGATCGAGACCCGACGC chr2:88038126-Variant-C;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Variant C aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CATGCGTAGTGT CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcatgcgtagtgtAGATCGAGACCCGACGC chr2:88038126-Variant-C;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Variant C aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CAAGTAACGTCA CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcaagtaacgtcaAGATCGAGACCCGACGC chr2:88038126-Variant-C;Patient-72 chr2:88038126-AC DeNovo Patient-72 intergenic 0.000598 9.9e-05 0.03 3.11 0.47 PLGLB2 9479 Variant C aatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctatta CGCCTGTTAAGG CGACGCGGTCTCTCTCTaatgctgatgcttgaaagtaagatctttggcatttatgcttacacgttgcCtgaagagtaagttgagtacaacatgttatgccatgtattaagtctattaAGAGGGAGACGGACGTCTCAATAAcgcctgttaaggAGATCGAGACCCGACGC chr2:88038126-Variant-C;Patient-72 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative G agacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga ACACCTCGGTAC CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAacacctcggtacAGATCGAGACCCGACGC chr2:88441206-Alternative-G;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative A agacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CGTGTTCACGAA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAcgtgttcacgaaAGATCGAGACCCGACGC chr2:88441206-Alternative-A;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative G agacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CTGAAGATGCGC CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAActgaagatgcgcAGATCGAGACCCGACGC chr2:88441206-Alternative-G;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Reference C agacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga ATCCTAGTCGAA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAatcctagtcgaaAGATCGAGACCCGACGC chr2:88441206-Reference-C;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Variant T agacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CTCAATCGCATA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAActcaatcgcataAGATCGAGACCCGACGC chr2:88441206-Variant-T;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Reference C agacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GTCGTGTTCGTC CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgtcgtgttcgtcAGATCGAGACCCGACGC chr2:88441206-Reference-C;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative A agacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GTGATGAGTTCT CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgtgatgagttctAGATCGAGACCCGACGC chr2:88441206-Alternative-A;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative G agacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CGGATGTGTGCA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAcggatgtgtgcaAGATCGAGACCCGACGC chr2:88441206-Alternative-G;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Variant T agacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GTGTCGCCTGTT CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgtgtcgcctgttAGATCGAGACCCGACGC chr2:88441206-Variant-T;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Reference C agacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CTAGGCCGCTTA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAActaggccgcttaAGATCGAGACCCGACGC chr2:88441206-Reference-C;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Variant T agacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CGGAGGTAGTCT CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAcggaggtagtctAGATCGAGACCCGACGC chr2:88441206-Variant-T;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative A agacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CACTAGATCAAG CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAcactagatcaagAGATCGAGACCCGACGC chr2:88441206-Alternative-A;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Variant T agacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga CATTACGGCGCA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAcattacggcgcaAGATCGAGACCCGACGC chr2:88441206-Variant-T;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Reference C agacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga ATTACAAGGTGG CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAattacaaggtggAGATCGAGACCCGACGC chr2:88441206-Reference-C;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Variant T agacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga AAGTGATCCGAT CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttTttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAaagtgatccgatAGATCGAGACCCGACGC chr2:88441206-Variant-T;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative A agacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GACGGCATGAGT CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgacggcatgagtAGATCGAGACCCGACGC chr2:88441206-Alternative-A;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Reference C agacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GTTAACGATGAG CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttCttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgttaacgatgagAGATCGAGACCCGACGC chr2:88441206-Reference-C;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative A agacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GTTCATTCGCCA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttAttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgttcattcgccaAGATCGAGACCCGACGC chr2:88441206-Alternative-A;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative G agacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GATATCGCACAG CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgatatcgcacagAGATCGAGACCCGACGC chr2:88441206-Alternative-G;Patient-104 chr2:88441206-CT DeNovo Patient-104 intergenic 0.000192 3.91e-05 0.27 6.88 -0.96 FABP1 13555 Alternative G agacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctga GATGTGACGCGA CGACGCGGTCTCTCTCTagacttccatttggtatcattttctttcttcctataagactttaatatttGttgtagtgtgggtctggtggttataaattctttcagcttgtttgtctgaAGAGGGAGACGGACGTCTCAATAAgatgtgacgcgaAGATCGAGACCCGACGC chr2:88441206-Alternative-G;Patient-104 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative A aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AGTAACCGTCTA CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAagtaaccgtctaAGATCGAGACCCGACGC chr2:8876441-Alternative-A;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative G aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt GTTCGAACACAG CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAgttcgaacacagAGATCGAGACCCGACGC chr2:8876441-Alternative-G;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Variant T aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt GAGATAGCCATA CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAgagatagccataAGATCGAGACCCGACGC chr2:8876441-Variant-T;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Reference C aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AGGTAACGGACA CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaggtaacggacaAGATCGAGACCCGACGC chr2:8876441-Reference-C;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Variant T aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AATGGCTCGACC CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaatggctcgaccAGATCGAGACCCGACGC chr2:8876441-Variant-T;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Reference C aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt ACATGTTCGACT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAacatgttcgactAGATCGAGACCCGACGC chr2:8876441-Reference-C;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Reference C aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt CGTCAGATCGGT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAcgtcagatcggtAGATCGAGACCCGACGC chr2:8876441-Reference-C;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Variant T aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt CTTGTACTACGT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAActtgtactacgtAGATCGAGACCCGACGC chr2:8876441-Variant-T;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Variant T aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt GTTGACGGCCAT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAgttgacggccatAGATCGAGACCCGACGC chr2:8876441-Variant-T;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Variant T aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AAGCGTGAACTT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgTtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaagcgtgaacttAGATCGAGACCCGACGC chr2:8876441-Variant-T;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Reference C aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt GTAGCGACGTTC CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAgtagcgacgttcAGATCGAGACCCGACGC chr2:8876441-Reference-C;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative G aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt ACGCGTTGACCT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAacgcgttgacctAGATCGAGACCCGACGC chr2:8876441-Alternative-G;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Reference C aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AGTCTATTCGAG CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgCtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAagtctattcgagAGATCGAGACCCGACGC chr2:8876441-Reference-C;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative G aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AAGTCGAGTCGA CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaagtcgagtcgaAGATCGAGACCCGACGC chr2:8876441-Alternative-G;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative G aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AGACGCCGGTTA CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAagacgccggttaAGATCGAGACCCGACGC chr2:8876441-Alternative-G;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative A aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AAGCAGCAAGTT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaagcagcaagttAGATCGAGACCCGACGC chr2:8876441-Alternative-A;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative A aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt ATACGAATAGCG CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAatacgaatagcgAGATCGAGACCCGACGC chr2:8876441-Alternative-A;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative A aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt CATTAGCTAGGT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAcattagctaggtAGATCGAGACCCGACGC chr2:8876441-Alternative-A;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative A aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt AGGCCAATGCGT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgAtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAaggccaatgcgtAGATCGAGACCCGACGC chr2:8876441-Alternative-A;Patient-27 chr2:8876441-CT DeNovo Patient-27 intronic KIDINS220 NA 4.95e-05 -0.01 2.47 -0.17 ID2 54327 Alternative G aaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcatt ACTCGTTCGATT CGACGCGGTCTCTCTCTaaaaccttcccccaaatctcaggcatctctagccaacttcctgatagctgGtagaattgcaataggatcttagaagaaaaaaaaactatgcaaatgcattAGAGGGAGACGGACGTCTCAATAAactcgttcgattAGATCGAGACCCGACGC chr2:8876441-Alternative-G;Patient-27 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative C tgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGGCGATTAAGT CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAaggcgattaagtAGATCGAGACCCGACGC chr2:88987302-Alternative-C;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Reference G tgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGGACGTGGTGT CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAaggacgtggtgtAGATCGAGACCCGACGC chr2:88987302-Reference-G;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative C tgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GCCGCGAATCAA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAgccgcgaatcaaAGATCGAGACCCGACGC chr2:88987302-Alternative-C;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Reference G tgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat ACGATACCTGAT CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAacgatacctgatAGATCGAGACCCGACGC chr2:88987302-Reference-G;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative C tgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat ATCGCTCTGTGC CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAatcgctctgtgcAGATCGAGACCCGACGC chr2:88987302-Alternative-C;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Reference G tgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat ACACGATGCGAT CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAacacgatgcgatAGATCGAGACCCGACGC chr2:88987302-Reference-G;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative C tgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GGACACATAGCG CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAggacacatagcgAGATCGAGACCCGACGC chr2:88987302-Alternative-C;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative C tgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GGTCATATCGAA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctCtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAggtcatatcgaaAGATCGAGACCCGACGC chr2:88987302-Alternative-C;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Variant A tgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat CTAGCCAAGTAA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAActagccaagtaaAGATCGAGACCCGACGC chr2:88987302-Variant-A;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative T tgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGGTAGGATCTA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAaggtaggatctaAGATCGAGACCCGACGC chr2:88987302-Alternative-T;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative T tgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GGACGCCAATTA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAggacgccaattaAGATCGAGACCCGACGC chr2:88987302-Alternative-T;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Reference G tgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AACAAGCGTCGG CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAaacaagcgtcggAGATCGAGACCCGACGC chr2:88987302-Reference-G;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Reference G tgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat ACAATGTCGTCA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctGtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAacaatgtcgtcaAGATCGAGACCCGACGC chr2:88987302-Reference-G;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Variant A tgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGAGTTGCTGAA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAagagttgctgaaAGATCGAGACCCGACGC chr2:88987302-Variant-A;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Variant A tgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGCAGTTAACGC CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAagcagttaacgcAGATCGAGACCCGACGC chr2:88987302-Variant-A;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative T tgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat CGTTCAAGATCA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAcgttcaagatcaAGATCGAGACCCGACGC chr2:88987302-Alternative-T;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative T tgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat AGCTTCGGAATT CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAagcttcggaattAGATCGAGACCCGACGC chr2:88987302-Alternative-T;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Alternative T tgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GGTAACGCATTC CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctTtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAggtaacgcattcAGATCGAGACCCGACGC chr2:88987302-Alternative-T;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Variant A tgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat GTGTACATGGAA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAgtgtacatggaaAGATCGAGACCCGACGC chr2:88987302-Variant-A;Patient-72 chr2:88987302-GA DeNovo Patient-72 intergenic 0.000351 0.00103 -0.09 1.46 0.24 RPIA 3873 Variant A tgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaat CAAGCAACGTTA CGACGCGGTCTCTCTCTtgggagggacctggtgggagataattgaattatgggggtgggtatttcctAtgctgtccttgtgatagtaagtctcatgagatctgatggttttaaaaatAGAGGGAGACGGACGTCTCAATAAcaagcaacgttaAGATCGAGACCCGACGC chr2:88987302-Variant-A;Patient-72 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative C tatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa ACGCGTCTTGAC CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAacgcgtcttgacAGATCGAGACCCGACGC chr2:8916178-Alternative-C;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Variant G tatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GACCGGCATGAA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgaccggcatgaaAGATCGAGACCCGACGC chr2:8916178-Variant-G;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Variant G tatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GACTGAAGGCAA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgactgaaggcaaAGATCGAGACCCGACGC chr2:8916178-Variant-G;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Reference T tatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa ACTCTCAACGCG CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAactctcaacgcgAGATCGAGACCCGACGC chr2:8916178-Reference-T;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Variant G tatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa CGGTAGGCTCAT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAcggtaggctcatAGATCGAGACCCGACGC chr2:8916178-Variant-G;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Reference T tatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GGTTGAGTGGCA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAggttgagtggcaAGATCGAGACCCGACGC chr2:8916178-Reference-T;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Reference T tatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GATACGTTGTGT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgatacgttgtgtAGATCGAGACCCGACGC chr2:8916178-Reference-T;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Variant G tatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GAGAGCGTCTGT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgagagcgtctgtAGATCGAGACCCGACGC chr2:8916178-Variant-G;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Variant G tatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GCAACGATGTGG CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagGgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgcaacgatgtggAGATCGAGACCCGACGC chr2:8916178-Variant-G;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative A tatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa ACAGCTCTGATT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAacagctctgattAGATCGAGACCCGACGC chr2:8916178-Alternative-A;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative A tatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GATCGGACGCTT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgatcggacgcttAGATCGAGACCCGACGC chr2:8916178-Alternative-A;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Reference T tatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa CGCTTAGTCGAG CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAcgcttagtcgagAGATCGAGACCCGACGC chr2:8916178-Reference-T;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative C tatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa CAATAGCTCGAC CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAcaatagctcgacAGATCGAGACCCGACGC chr2:8916178-Alternative-C;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative A tatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa GACCTAGCGAGT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAgacctagcgagtAGATCGAGACCCGACGC chr2:8916178-Alternative-A;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Reference T tatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa CAGACGACCGTT CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagTgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAcagacgaccgttAGATCGAGACCCGACGC chr2:8916178-Reference-T;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative A tatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa AGTGCTTGGTCG CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAagtgcttggtcgAGATCGAGACCCGACGC chr2:8916178-Alternative-A;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative A tatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa AACTTCTGGCTA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagAgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAaacttctggctaAGATCGAGACCCGACGC chr2:8916178-Alternative-A;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative C tatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa AATAGACGGTCA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAaatagacggtcaAGATCGAGACCCGACGC chr2:8916178-Alternative-C;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative C tatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa ACGTGACGCAGA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAacgtgacgcagaAGATCGAGACCCGACGC chr2:8916178-Alternative-C;Patient-22 chr2:8916178-TG Inherited Patient-22 intronic KIDINS220 NA 4.95e-05 -0.3 0.36 -2.74 KIDINS220 61576 Alternative C tatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaa AGTGTCGCTTAA CGACGCGGTCTCTCTCTtatatgttgataacatactaaaacattcccattgttgaacataaatacagCgaggcttgagaactcacttaaaggaacttaagtaccaaaaatattgtaaAGAGGGAGACGGACGTCTCAATAAagtgtcgcttaaAGATCGAGACCCGACGC chr2:8916178-Alternative-C;Patient-22 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Reference T aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GCGCGCTCATTA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgcgcgctcattaAGATCGAGACCCGACGC chr2:9306710-Reference-T;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Variant A aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GTACCTTCACCG CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgtaccttcaccgAGATCGAGACCCGACGC chr2:9306710-Variant-A;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Variant A aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GGCTGTTAGCGT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAggctgttagcgtAGATCGAGACCCGACGC chr2:9306710-Variant-A;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Variant A aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga AGCTTATAGCCA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAagcttatagccaAGATCGAGACCCGACGC chr2:9306710-Variant-A;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Variant A aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga AGTGTTGGTTCA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAagtgttggttcaAGATCGAGACCCGACGC chr2:9306710-Variant-A;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative C aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GCAAGCGTGTTA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgcaagcgtgttaAGATCGAGACCCGACGC chr2:9306710-Alternative-C;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Reference T aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga ACCTACTCGATT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAacctactcgattAGATCGAGACCCGACGC chr2:9306710-Reference-T;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Variant A aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga AAGATGACTGGT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaAcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAaagatgactggtAGATCGAGACCCGACGC chr2:9306710-Variant-A;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative G aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GATCACGTACTA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgatcacgtactaAGATCGAGACCCGACGC chr2:9306710-Alternative-G;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative C aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GTGTAGTCTTCT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgtgtagtcttctAGATCGAGACCCGACGC chr2:9306710-Alternative-C;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Reference T aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga AGCTACCTTCAT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAagctaccttcatAGATCGAGACCCGACGC chr2:9306710-Reference-T;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative C aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GGTTACCGTGGT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAggttaccgtggtAGATCGAGACCCGACGC chr2:9306710-Alternative-C;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative C aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga CTATGCGTAGAT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAActatgcgtagatAGATCGAGACCCGACGC chr2:9306710-Alternative-C;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative G aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GGCGATACACCA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAggcgatacaccaAGATCGAGACCCGACGC chr2:9306710-Alternative-G;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Reference T aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga ATCTGCTTCGGC CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAatctgcttcggcAGATCGAGACCCGACGC chr2:9306710-Reference-T;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative C aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga GTATATCGGCCA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaCcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAgtatatcggccaAGATCGAGACCCGACGC chr2:9306710-Alternative-C;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative G aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga CATAAGCGCAAT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAcataagcgcaatAGATCGAGACCCGACGC chr2:9306710-Alternative-G;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative G aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga CGACATAGCTGA CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAcgacatagctgaAGATCGAGACCCGACGC chr2:9306710-Alternative-G;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Alternative G aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga CTAATATGCGAC CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaGcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAActaatatgcgacAGATCGAGACCCGACGC chr2:9306710-Alternative-G;Patient-89 chr2:9306710-TA Inherited Patient-89 intergenic NA 0.000512821 -0.13 1.12 -1.6 ASAP2 40183 Reference T aaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacaga AGCTGGAAGGAT CGACGCGGTCTCTCTCTaaggacttgttacaggtgcagagctcgcgtgtttggaaacagactgaagaTcaccaagcacaaaactttcactttcaaatgagaaaatgtggggaacagaAGAGGGAGACGGACGTCTCAATAAagctggaaggatAGATCGAGACCCGACGC chr2:9306710-Reference-T;Patient-89 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative G agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga CACTAGACGCGA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAcactagacgcgaAGATCGAGACCCGACGC chr2:9427181-Alternative-G;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative C agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga AAGGTGGATAGA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAaaggtggatagaAGATCGAGACCCGACGC chr2:9427181-Alternative-C;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative C agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga ATCAAGGCTATC CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAatcaaggctatcAGATCGAGACCCGACGC chr2:9427181-Alternative-C;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative G agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GCAGCGGATAGT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgcagcggatagtAGATCGAGACCCGACGC chr2:9427181-Alternative-G;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative G agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GGTATCTGTCTT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAggtatctgtcttAGATCGAGACCCGACGC chr2:9427181-Alternative-G;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative G agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GAGTTGCTGCGT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgagttgctgcgtAGATCGAGACCCGACGC chr2:9427181-Alternative-G;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative G agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga CAGGTAACGCAG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacGgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAcaggtaacgcagAGATCGAGACCCGACGC chr2:9427181-Alternative-G;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative C agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GCCTTACTATGG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgccttactatggAGATCGAGACCCGACGC chr2:9427181-Alternative-C;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Reference T agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga AAGTCGTACCGG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAaagtcgtaccggAGATCGAGACCCGACGC chr2:9427181-Reference-T;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Variant A agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga ACAATATCCTGG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAacaatatcctggAGATCGAGACCCGACGC chr2:9427181-Variant-A;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Variant A agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GACGAGATCAAG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgacgagatcaagAGATCGAGACCCGACGC chr2:9427181-Variant-A;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Reference T agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga ACGTTAGTGGTT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAacgttagtggttAGATCGAGACCCGACGC chr2:9427181-Reference-T;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Reference T agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga AGCAAGTGAGAA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAagcaagtgagaaAGATCGAGACCCGACGC chr2:9427181-Reference-T;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Reference T agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GCATACGGTTCG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgcatacggttcgAGATCGAGACCCGACGC chr2:9427181-Reference-T;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Variant A agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga AGTGTAGCCTTA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAagtgtagccttaAGATCGAGACCCGACGC chr2:9427181-Variant-A;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Variant A agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga ATCGGTGTATCA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAatcggtgtatcaAGATCGAGACCCGACGC chr2:9427181-Variant-A;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Reference T agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GCGTTATGTACT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacTgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgcgttatgtactAGATCGAGACCCGACGC chr2:9427181-Reference-T;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Variant A agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GGTCTGTCGCTT CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacAgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAggtctgtcgcttAGATCGAGACCCGACGC chr2:9427181-Variant-A;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative C agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GCCGATTCGCTA CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgccgattcgctaAGATCGAGACCCGACGC chr2:9427181-Alternative-C;Patient-55 chr2:9427181-TA Inherited Patient-55 intronic ASAP2 NA 4.95e-05 0.03 3.07 -1.02 ASAP2 80286 Alternative C agccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgaga GTCATAATCACG CGACGCGGTCTCTCTCTagccttgtgagttgggtcctgtccattgacagatgagctcacagaggcacCgagtagtgatctgccagtgtcatctagccaacagttggaggagctgagaAGAGGGAGACGGACGTCTCAATAAgtcataatcacgAGATCGAGACCCGACGC chr2:9427181-Alternative-C;Patient-55 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Reference T aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa ACTTGCTTGGTT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAacttgcttggttAGATCGAGACCCGACGC chr2:9515299-Reference-T;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Reference T aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GGTTCGTGGCTA CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAggttcgtggctaAGATCGAGACCCGACGC chr2:9515299-Reference-T;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative A aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GATGTAACCGGC CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAgatgtaaccggcAGATCGAGACCCGACGC chr2:9515299-Alternative-A;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative A aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa AATAGTCGTGCT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAaatagtcgtgctAGATCGAGACCCGACGC chr2:9515299-Alternative-A;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative G aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa AGGCGTCTATAT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAaggcgtctatatAGATCGAGACCCGACGC chr2:9515299-Alternative-G;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative A aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa AGTAATTCGTGC CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAagtaattcgtgcAGATCGAGACCCGACGC chr2:9515299-Alternative-A;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative G aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa CTGTTCCGGTCT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAActgttccggtctAGATCGAGACCCGACGC chr2:9515299-Alternative-G;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative A aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GCGGTTCTGGTT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAgcggttctggttAGATCGAGACCCGACGC chr2:9515299-Alternative-A;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Variant C aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa AGTTCCACCGAT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAagttccaccgatAGATCGAGACCCGACGC chr2:9515299-Variant-C;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Variant C aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GACGGACGCAAT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAgacggacgcaatAGATCGAGACCCGACGC chr2:9515299-Variant-C;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Reference T aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa CGATACTCGGCA CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAcgatactcggcaAGATCGAGACCCGACGC chr2:9515299-Reference-T;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Variant C aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa CAGCTAGGTGAA CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAcagctaggtgaaAGATCGAGACCCGACGC chr2:9515299-Variant-C;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Variant C aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GGCAATCGTACC CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAggcaatcgtaccAGATCGAGACCCGACGC chr2:9515299-Variant-C;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative A aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GACAACAACTGA CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcAactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAgacaacaactgaAGATCGAGACCCGACGC chr2:9515299-Alternative-A;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Reference T aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa AATGTTCACACG CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAaatgttcacacgAGATCGAGACCCGACGC chr2:9515299-Reference-T;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Variant C aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa CTTATGATGTGG CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcCactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAActtatgatgtggAGATCGAGACCCGACGC chr2:9515299-Variant-C;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative G aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa ACTAATGGCGAA CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAactaatggcgaaAGATCGAGACCCGACGC chr2:9515299-Alternative-G;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative G aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa CTGCTACGCATC CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAActgctacgcatcAGATCGAGACCCGACGC chr2:9515299-Alternative-G;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Reference T aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa GGTTATGCTAGT CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcTactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAggttatgctagtAGATCGAGACCCGACGC chr2:9515299-Reference-T;Patient-81 chr2:9515299-TC DeNovo Patient-81 intronic ASAP2 NA 9.9e-05 0.05 3.45 0.43 ITGB1BP1 48343 Alternative G aaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaa ACGAATCGCATC CGACGCGGTCTCTCTCTaaaaaaagtaaaattggccaggcatggtggtgtacatttgtagtcccagcGactcaggaggctggggtgagaggaatcggttgagcccagaaatttgaaaAGAGGGAGACGGACGTCTCAATAAacgaatcgcatcAGATCGAGACCCGACGC chr2:9515299-Alternative-G;Patient-81 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Reference C ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CAATGCTCGCAC CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcaatgctcgcacAGATCGAGACCCGACGC chr2:95709421-Reference-C;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Reference C ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CGAGTGCGCTAA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcgagtgcgctaaAGATCGAGACCCGACGC chr2:95709421-Reference-C;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Reference C ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GGTGTTCAAGTT CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAggtgttcaagttAGATCGAGACCCGACGC chr2:95709421-Reference-C;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Reference C ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc ATACATTGCCGC CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAatacattgccgcAGATCGAGACCCGACGC chr2:95709421-Reference-C;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Reference C ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CAAGCATTCGCG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcCgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcaagcattcgcgAGATCGAGACCCGACGC chr2:95709421-Reference-C;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative A ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CGTGAGGTCATT CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcgtgaggtcattAGATCGAGACCCGACGC chr2:95709421-Alternative-A;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Variant T ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GCGTCCAGCTAA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgcgtccagctaaAGATCGAGACCCGACGC chr2:95709421-Variant-T;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative A ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GTCGAACGTTCG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgtcgaacgttcgAGATCGAGACCCGACGC chr2:95709421-Alternative-A;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative A ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GTGTAAGGTGCG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgtgtaaggtgcgAGATCGAGACCCGACGC chr2:95709421-Alternative-A;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative A ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc AGTAAGCGCCGT CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAagtaagcgccgtAGATCGAGACCCGACGC chr2:95709421-Alternative-A;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Variant T ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc ACTTAGGTTACG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAacttaggttacgAGATCGAGACCCGACGC chr2:95709421-Variant-T;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Variant T ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GACGCATCGAGA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgacgcatcgagaAGATCGAGACCCGACGC chr2:95709421-Variant-T;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative G ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc ATAGAGCTCTGA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAatagagctctgaAGATCGAGACCCGACGC chr2:95709421-Alternative-G;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Variant T ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GTGCTACTGTGG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgtgctactgtggAGATCGAGACCCGACGC chr2:95709421-Variant-T;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative G ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CATGCGCATTAA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcatgcgcattaaAGATCGAGACCCGACGC chr2:95709421-Alternative-G;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative G ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc AACGCCTGCGAT CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAaacgcctgcgatAGATCGAGACCCGACGC chr2:95709421-Alternative-G;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative G ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CAACAGACGGAC CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAcaacagacggacAGATCGAGACCCGACGC chr2:95709421-Alternative-G;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative G ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GATGCTCGAGCT CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcGgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAgatgctcgagctAGATCGAGACCCGACGC chr2:95709421-Alternative-G;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Alternative A ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc CTCTCGTATCAG CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcAgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAActctcgtatcagAGATCGAGACCCGACGC chr2:95709421-Alternative-A;Patient-55 chr2:95709421-CT Inherited Patient-55 intronic MAL NA 4.95e-05 -0.41 0.17 -3.33 MAL 18020 Variant T ggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctc GGACTTAAGTCA CGACGCGGTCTCTCTCTggcatgactcagctgaggcaacagctgtttctgttccacagacacctagcTgggaatgaaatctctcctgactcggctgtgcctttcccgtatcctcctcAGAGGGAGACGGACGTCTCAATAAggacttaagtcaAGATCGAGACCCGACGC chr2:95709421-Variant-T;Patient-55 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Reference G agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca GTTGATGGACTT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAgttgatggacttAGATCGAGACCCGACGC chr2:96008888-Reference-G;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Reference G agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CGGACTAATCAA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcggactaatcaaAGATCGAGACCCGACGC chr2:96008888-Reference-G;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Reference G agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca AATCGTACCAGA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAaatcgtaccagaAGATCGAGACCCGACGC chr2:96008888-Reference-G;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Reference G agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca AAGGTAGACGTC CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAaaggtagacgtcAGATCGAGACCCGACGC chr2:96008888-Reference-G;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative T agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca GTAGGTCTGAGA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAgtaggtctgagaAGATCGAGACCCGACGC chr2:96008888-Alternative-T;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative T agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CGACCAGATAGT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcgaccagatagtAGATCGAGACCCGACGC chr2:96008888-Alternative-T;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Reference G agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca ACGAGCCATTAT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacGaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAacgagccattatAGATCGAGACCCGACGC chr2:96008888-Reference-G;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Variant A agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CATGTCGTGATA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcatgtcgtgataAGATCGAGACCCGACGC chr2:96008888-Variant-A;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative T agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CATCGTGATAAG CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcatcgtgataagAGATCGAGACCCGACGC chr2:96008888-Alternative-T;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative T agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca ATTGAAGCCGCT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAattgaagccgctAGATCGAGACCCGACGC chr2:96008888-Alternative-T;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative T agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca AACGGTCCATCG CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacTaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAaacggtccatcgAGATCGAGACCCGACGC chr2:96008888-Alternative-T;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Variant A agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca GTCGTGCTTCGT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAgtcgtgcttcgtAGATCGAGACCCGACGC chr2:96008888-Variant-A;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Variant A agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca ATCGTCGTACGG CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAatcgtcgtacggAGATCGAGACCCGACGC chr2:96008888-Variant-A;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Variant A agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca ACGTCTAACCTT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAacgtctaaccttAGATCGAGACCCGACGC chr2:96008888-Variant-A;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative C agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CGTGGTGCGTTA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcgtggtgcgttaAGATCGAGACCCGACGC chr2:96008888-Alternative-C;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Variant A agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca AATGTGTTCCGA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacAaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAaatgtgttccgaAGATCGAGACCCGACGC chr2:96008888-Variant-A;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative C agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CGGCACGTCAAT CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcggcacgtcaatAGATCGAGACCCGACGC chr2:96008888-Alternative-C;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative C agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CAGGTGATGATA CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcaggtgatgataAGATCGAGACCCGACGC chr2:96008888-Alternative-C;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative C agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca CATCGAATTGAC CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAcatcgaattgacAGATCGAGACCCGACGC chr2:96008888-Alternative-C;Patient-91 chr2:96008888-GA Inherited Patient-91 intronic KCNIP3 NA 4.95e-05 -0.46 0.12 -2.31 KCNIP3 45815 Alternative C agggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggaca GAGGTGTTACGG CGACGCGGTCTCTCTCTagggagaacaatgctgtggctgggctggtggcagtggggcagagatggacCaggaggcacagggcgagagtgtggtgacaggctggacggggtggggacaAGAGGGAGACGGACGTCTCAATAAgaggtgttacggAGATCGAGACCCGACGC chr2:96008888-Alternative-C;Patient-91 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Reference G aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GAGTACTATTCG CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgagtactattcgAGATCGAGACCCGACGC chr2:97090210-Reference-G;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Variant A aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct CAAGTAAGGAGT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAcaagtaaggagtAGATCGAGACCCGACGC chr2:97090210-Variant-A;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative T aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct CTGAGAGCGCAT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAActgagagcgcatAGATCGAGACCCGACGC chr2:97090210-Alternative-T;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Reference G aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GTACACGTACTA CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtacacgtactaAGATCGAGACCCGACGC chr2:97090210-Reference-G;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative T aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GTTAGATCATGC CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgttagatcatgcAGATCGAGACCCGACGC chr2:97090210-Alternative-T;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Variant A aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AGATGACTGCGC CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAagatgactgcgcAGATCGAGACCCGACGC chr2:97090210-Variant-A;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Variant A aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct ACGACTTACAGG CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAacgacttacaggAGATCGAGACCCGACGC chr2:97090210-Variant-A;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative C aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AGGAACCTTACG CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggaaccttacgAGATCGAGACCCGACGC chr2:97090210-Alternative-C;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative T aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct ATCGTGCTTGTT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAatcgtgcttgttAGATCGAGACCCGACGC chr2:97090210-Alternative-T;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Reference G aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AACGTCCACGTC CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAaacgtccacgtcAGATCGAGACCCGACGC chr2:97090210-Reference-G;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative T aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GAGTGTTGTCTA CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgagtgttgtctaAGATCGAGACCCGACGC chr2:97090210-Alternative-T;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Variant A aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct ATTCGGAGTAAC CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAattcggagtaacAGATCGAGACCCGACGC chr2:97090210-Variant-A;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative C aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AGGCCAAGCCTT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggccaagccttAGATCGAGACCCGACGC chr2:97090210-Alternative-C;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative C aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GATTGTTCAGCA CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgattgttcagcaAGATCGAGACCCGACGC chr2:97090210-Alternative-C;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Reference G aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GATAGTGTAACG CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgatagtgtaacgAGATCGAGACCCGACGC chr2:97090210-Reference-G;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative T aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AACGAACGATCA CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagTctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAaacgaacgatcaAGATCGAGACCCGACGC chr2:97090210-Alternative-T;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative C aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AGCTAATGAGCA CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAagctaatgagcaAGATCGAGACCCGACGC chr2:97090210-Alternative-C;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Reference G aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GCCGTCTGAGTT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagGctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgccgtctgagttAGATCGAGACCCGACGC chr2:97090210-Reference-G;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Alternative C aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct AACTCGCGGTTC CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagCctgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAaactcgcggttcAGATCGAGACCCGACGC chr2:97090210-Alternative-C;Patient-36 chr2:97090210-GA DeNovo Patient-36 intergenic 0.000384 0.00154 0.77 11.66 0.14 NCAPH 88730 Variant A aaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcct GTCGCAGCTTCT CGACGCGGTCTCTCTCTaaagtagcaaagtgtggtggtgcatggctgtaatcccagcaattcaggagActgaggcatgagaatcacttgagccaagatcaggcctgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtcgcagcttctAGATCGAGACCCGACGC chr2:97090210-Variant-A;Patient-36 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative G gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CGGATCGCAAGA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAcggatcgcaagaAGATCGAGACCCGACGC chr2:98334978-Alternative-G;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative G gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GAGCTACAATGT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAgagctacaatgtAGATCGAGACCCGACGC chr2:98334978-Alternative-G;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative G gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc ATCTCCGTGCAC CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAatctccgtgcacAGATCGAGACCCGACGC chr2:98334978-Alternative-G;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative G gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GCAGTTACACCA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAgcagttacaccaAGATCGAGACCCGACGC chr2:98334978-Alternative-G;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Variant T gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GGAACTTGGATA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAggaacttggataAGATCGAGACCCGACGC chr2:98334978-Variant-T;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Variant T gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CAACACACGGAT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAcaacacacggatAGATCGAGACCCGACGC chr2:98334978-Variant-T;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative A gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GCAACAAGTAGT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAgcaacaagtagtAGATCGAGACCCGACGC chr2:98334978-Alternative-A;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative A gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CTGCGAACGGAA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAActgcgaacggaaAGATCGAGACCCGACGC chr2:98334978-Alternative-A;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative A gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CGCCTACAACAT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAcgcctacaacatAGATCGAGACCCGACGC chr2:98334978-Alternative-A;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative A gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc ACTCGCGTACAC CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAactcgcgtacacAGATCGAGACCCGACGC chr2:98334978-Alternative-A;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Variant T gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc ACACAACAGACA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAacacaacagacaAGATCGAGACCCGACGC chr2:98334978-Variant-T;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative G gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc ACGCGTATGTAA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccGgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAacgcgtatgtaaAGATCGAGACCCGACGC chr2:98334978-Alternative-G;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Variant T gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc ACGAAGCATCAG CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAacgaagcatcagAGATCGAGACCCGACGC chr2:98334978-Variant-T;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Variant T gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CGACGACATCTT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccTgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAcgacgacatcttAGATCGAGACCCGACGC chr2:98334978-Variant-T;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Alternative A gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc CTCTCGTATCCA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccAgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAActctcgtatccaAGATCGAGACCCGACGC chr2:98334978-Alternative-A;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Reference C gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GACAACATCTGG CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAgacaacatctggAGATCGAGACCCGACGC chr2:98334978-Reference-C;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Reference C gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc GACTACGACGCT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAgactacgacgctAGATCGAGACCCGACGC chr2:98334978-Reference-C;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Reference C gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc AGAGTCACTTGT CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAagagtcacttgtAGATCGAGACCCGACGC chr2:98334978-Reference-C;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Reference C gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc AGTAGTAACCGG CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAagtagtaaccggAGATCGAGACCCGACGC chr2:98334978-Reference-C;Patient-91 chr2:98334978-CT Inherited Patient-91 intronic ZAP70 0.000287 0.00016 -0.04 2.08 -1.91 ZAP70 4946 Reference C gaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggc AACCACGTAGAA CGACGCGGTCTCTCTCTgaggacagtccagaaaggccccaggggtggaagaggaggcgcccaccaccCgacctgtgtgtgtggggtggtgcttgtgattaccgttgtccttgtgggcAGAGGGAGACGGACGTCTCAATAAaaccacgtagaaAGATCGAGACCCGACGC chr2:98334978-Reference-C;Patient-91 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative A ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccac AACGCGTTGAAC CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAaacgcgttgaacAGATCGAGACCCGACGC chr2:99856951-Alternative-A;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Variant T ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccac CAGGTACTGATT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAcaggtactgattAGATCGAGACCCGACGC chr2:99856951-Variant-T;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Variant T ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccac GATGGACGATGC CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAgatggacgatgcAGATCGAGACCCGACGC chr2:99856951-Variant-T;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Variant T ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccac ACTTCGGCTACC CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAacttcggctaccAGATCGAGACCCGACGC chr2:99856951-Variant-T;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Variant T ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccac ACAAGACGGTAT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAacaagacggtatAGATCGAGACCCGACGC chr2:99856951-Variant-T;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative G ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccac ACGTCAGTATCA CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAacgtcagtatcaAGATCGAGACCCGACGC chr2:99856951-Alternative-G;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative A ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccac GCAACACCATGA CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAgcaacaccatgaAGATCGAGACCCGACGC chr2:99856951-Alternative-A;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Variant T ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccac CTCGCGCATAAG CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcTctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAActcgcgcataagAGATCGAGACCCGACGC chr2:99856951-Variant-T;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Reference C ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccac GGCTCGTCTAAG CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAggctcgtctaagAGATCGAGACCCGACGC chr2:99856951-Reference-C;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Reference C ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccac ACTAGTATCCGA CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAactagtatccgaAGATCGAGACCCGACGC chr2:99856951-Reference-C;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Reference C ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccac ATACGAGCCTAT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAatacgagcctatAGATCGAGACCCGACGC chr2:99856951-Reference-C;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative A ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccac GGAATTATGCAG CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAggaattatgcagAGATCGAGACCCGACGC chr2:99856951-Alternative-A;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Reference C ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccac GTCGTCAATTCA CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAgtcgtcaattcaAGATCGAGACCCGACGC chr2:99856951-Reference-C;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative A ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccac CTGAACAGCTAT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAActgaacagctatAGATCGAGACCCGACGC chr2:99856951-Alternative-A;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative A ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccac GTTAATGAGTGG CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcActgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAgttaatgagtggAGATCGAGACCCGACGC chr2:99856951-Alternative-A;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative G ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccac GTACCTATGCTT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAgtacctatgcttAGATCGAGACCCGACGC chr2:99856951-Alternative-G;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Reference C ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccac AGCGTCTAGTAT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcCctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAagcgtctagtatAGATCGAGACCCGACGC chr2:99856951-Reference-C;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative G ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccac CACATAGATGCT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAcacatagatgctAGATCGAGACCCGACGC chr2:99856951-Alternative-G;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative G ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccac CGAGTCGCGTAT CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAcgagtcgcgtatAGATCGAGACCCGACGC chr2:99856951-Alternative-G;Patient-71 chr2:99856951-CT DeNovo Patient-71 intergenic 6.4e-05 0.00103 0.07 3.73 1.43 MRPL30 59408 Alternative G ccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccac GGTAGAGCATTC CGACGCGGTCTCTCTCTccactgtggtagctggctcggtgacacgttttattggctgtcctactgtcGctgtatcatccagccacctcatacgagcgttccaaaataaactacccacAGAGGGAGACGGACGTCTCAATAAggtagagcattcAGATCGAGACCCGACGC chr2:99856951-Alternative-G;Patient-71 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Variant C catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg ACGTCTGCCGAT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAacgtctgccgatAGATCGAGACCCGACGC chr20:10247425-Variant-C;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative G catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GCGCTATTAAGT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAgcgctattaagtAGATCGAGACCCGACGC chr20:10247425-Alternative-G;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Reference T catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg ACCTGAGAGTAA CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAacctgagagtaaAGATCGAGACCCGACGC chr20:10247425-Reference-T;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Reference T catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CTCTAATAGACG CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAActctaatagacgAGATCGAGACCCGACGC chr20:10247425-Reference-T;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative G catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CTATCCTGTGCA CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAActatcctgtgcaAGATCGAGACCCGACGC chr20:10247425-Alternative-G;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Reference T catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg ACCTATTACCGT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAacctattaccgtAGATCGAGACCCGACGC chr20:10247425-Reference-T;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative G catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg AGGCGACTTATT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAaggcgacttattAGATCGAGACCCGACGC chr20:10247425-Alternative-G;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Reference T catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GAGTATACGAGT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAgagtatacgagtAGATCGAGACCCGACGC chr20:10247425-Reference-T;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Reference T catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GGTCGTGTACGT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaTgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAggtcgtgtacgtAGATCGAGACCCGACGC chr20:10247425-Reference-T;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative G catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GGTGAGTAGTAT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAggtgagtagtatAGATCGAGACCCGACGC chr20:10247425-Alternative-G;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Variant C catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CATAGCACGGTT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAcatagcacggttAGATCGAGACCCGACGC chr20:10247425-Variant-C;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative A catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CGTCTAGCGAAG CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAcgtctagcgaagAGATCGAGACCCGACGC chr20:10247425-Alternative-A;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative A catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GTCAAGCGTAAT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAgtcaagcgtaatAGATCGAGACCCGACGC chr20:10247425-Alternative-A;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative A catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg ACCACACCGTGA CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAaccacaccgtgaAGATCGAGACCCGACGC chr20:10247425-Alternative-A;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Variant C catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CGTAGGTATGTT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAcgtaggtatgttAGATCGAGACCCGACGC chr20:10247425-Variant-C;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative G catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg AGCTAGATCCGT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaGgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAagctagatccgtAGATCGAGACCCGACGC chr20:10247425-Alternative-G;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative A catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg AGCTAGCGGCTT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAagctagcggcttAGATCGAGACCCGACGC chr20:10247425-Alternative-A;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Variant C catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg AACAGGACGTAA CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAaacaggacgtaaAGATCGAGACCCGACGC chr20:10247425-Variant-C;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Variant C catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg GCATAACAGCAA CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaCgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAgcataacagcaaAGATCGAGACCCGACGC chr20:10247425-Variant-C;Patient-84 chr20:10247425-TC DeNovo Patient-84 intronic SNAP25 NA 0.00016 0.19 5.66 2 SNAP25 47947 Alternative A catggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctg CGAGGATTAGAT CGACGCGGTCTCTCTCTcatggacctataaacatgacaacacagctgcaaaatgtaaagagtgaaaaAgggctgaaatagaagaaattgatggaacgaactcactgttgaagacctgAGAGGGAGACGGACGTCTCAATAAcgaggattagatAGATCGAGACCCGACGC chr20:10247425-Alternative-A;Patient-84 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative C taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg AAGGCGCCTAAC CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAaaggcgcctaacAGATCGAGACCCGACGC chr20:1033582-Alternative-C;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative C taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GGTGTAGCTTAT CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAggtgtagcttatAGATCGAGACCCGACGC chr20:1033582-Alternative-C;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative C taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg CTATGTCCGTCG CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAActatgtccgtcgAGATCGAGACCCGACGC chr20:1033582-Alternative-C;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Variant A taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg ACAAGTTGAACG CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAacaagttgaacgAGATCGAGACCCGACGC chr20:1033582-Variant-A;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative C taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg CGACATCAGTAC CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAcgacatcagtacAGATCGAGACCCGACGC chr20:1033582-Alternative-C;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative C taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg AAGCATATAGCG CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcCgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAaagcatatagcgAGATCGAGACCCGACGC chr20:1033582-Alternative-C;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Variant A taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GCAACAACGTTA CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgcaacaacgttaAGATCGAGACCCGACGC chr20:1033582-Variant-A;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Variant A taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg CTTGCCGACGAA CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAActtgccgacgaaAGATCGAGACCCGACGC chr20:1033582-Variant-A;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Variant A taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg ACAACTCATGGT CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAacaactcatggtAGATCGAGACCCGACGC chr20:1033582-Variant-A;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Variant A taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GAGTTAACGTTC CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcAgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgagttaacgttcAGATCGAGACCCGACGC chr20:1033582-Variant-A;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Reference G taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GTATTAGCTACG CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgtattagctacgAGATCGAGACCCGACGC chr20:1033582-Reference-G;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Reference G taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GTCGTGAACAAC CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgtcgtgaacaacAGATCGAGACCCGACGC chr20:1033582-Reference-G;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Reference G taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg AGTTCGTGTAGT CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAagttcgtgtagtAGATCGAGACCCGACGC chr20:1033582-Reference-G;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative T taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg AAGGCTCGTCCA CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAaaggctcgtccaAGATCGAGACCCGACGC chr20:1033582-Alternative-T;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative T taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GTGTCTTGACGG CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgtgtcttgacggAGATCGAGACCCGACGC chr20:1033582-Alternative-T;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative T taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GTAACTCGGTTA CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgtaactcggttaAGATCGAGACCCGACGC chr20:1033582-Alternative-T;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Reference G taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg CAGCGTATCCGA CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAcagcgtatccgaAGATCGAGACCCGACGC chr20:1033582-Reference-G;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative T taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg ACGCAATGCGAT CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAacgcaatgcgatAGATCGAGACCCGACGC chr20:1033582-Alternative-T;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Alternative T taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg GCAGGCGAACTT CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcTgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAgcaggcgaacttAGATCGAGACCCGACGC chr20:1033582-Alternative-T;Patient-78 chr20:1033582-GA Inherited Patient-78 intergenic 0.000605 0.000513 -0.62 0.04 -6.51 PSMF1 60323 Reference G taggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctgg CGTTAGCCGTAC CGACGCGGTCTCTCTCTtaggagcccgtggcccatgcatggcagactcaggtggcccagcaccttgcGgctgctcctaaaagcacagacacctgtattgaagagagggaagttctggAGAGGGAGACGGACGTCTCAATAAcgttagccgtacAGATCGAGACCCGACGC chr20:1033582-Reference-G;Patient-78 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Reference T cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GGCTCATAGCGT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAggctcatagcgtAGATCGAGACCCGACGC chr20:10373680-Reference-T;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Reference T cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa AACACAACGCGC CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAaacacaacgcgcAGATCGAGACCCGACGC chr20:10373680-Reference-T;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative A cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GGAATTACAACG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAggaattacaacgAGATCGAGACCCGACGC chr20:10373680-Alternative-A;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Reference T cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa CGTGCAGATGCT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAcgtgcagatgctAGATCGAGACCCGACGC chr20:10373680-Reference-T;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative A cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GGAAGTATCGAA CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAggaagtatcgaaAGATCGAGACCCGACGC chr20:10373680-Alternative-A;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative A cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa CAACTATTGTCG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAcaactattgtcgAGATCGAGACCCGACGC chr20:10373680-Alternative-A;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative A cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa CGGTCGTCTATC CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAcggtcgtctatcAGATCGAGACCCGACGC chr20:10373680-Alternative-A;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative G cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa AATCTGGTCGGC CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAaatctggtcggcAGATCGAGACCCGACGC chr20:10373680-Alternative-G;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Variant C cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GGCGTGGAAGTT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAggcgtggaagttAGATCGAGACCCGACGC chr20:10373680-Variant-C;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative A cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa CATAAGATACGG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaAaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAcataagatacggAGATCGAGACCCGACGC chr20:10373680-Alternative-A;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative G cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa AATAACAACCGG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAaataacaaccggAGATCGAGACCCGACGC chr20:10373680-Alternative-G;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative G cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GATCACGGCAAG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgatcacggcaagAGATCGAGACCCGACGC chr20:10373680-Alternative-G;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Variant C cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GCATAGACTATC CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgcatagactatcAGATCGAGACCCGACGC chr20:10373680-Variant-C;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Variant C cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GAGCAGTTAGAT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgagcagttagatAGATCGAGACCCGACGC chr20:10373680-Variant-C;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Variant C cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa ACCGAATCGACT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAaccgaatcgactAGATCGAGACCCGACGC chr20:10373680-Variant-C;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Reference T cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GTCCGGTATCAT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgtccggtatcatAGATCGAGACCCGACGC chr20:10373680-Reference-T;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Variant C cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa ATCGAGCTAGCG CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaCaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAatcgagctagcgAGATCGAGACCCGACGC chr20:10373680-Variant-C;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Reference T cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GACTGGTCGGTT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaTaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgactggtcggttAGATCGAGACCCGACGC chr20:10373680-Reference-T;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative G cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GTCGAGATCGTT CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAgtcgagatcgttAGATCGAGACCCGACGC chr20:10373680-Alternative-G;Patient-33 chr20:10373680-TC DeNovo Patient-33 intergenic NA 0.000513 NA NA NA MKKS 41206 Alternative G cctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaa GGATATTCCTGA CGACGCGGTCTCTCTCTcctctgtgaatgaggagaaacataatctggttctaagaaagtaagaatcaGaggaccaaaaaacctgcaaatgtaccatatttaatttcatattttaaaaAGAGGGAGACGGACGTCTCAATAAggatattcctgaAGATCGAGACCCGACGC chr20:10373680-Alternative-G;Patient-33 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative A gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GGTTCTACGCGT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAggttctacgcgtAGATCGAGACCCGACGC chr20:1143957-Alternative-A;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative G gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GTTGACACGAAC CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAgttgacacgaacAGATCGAGACCCGACGC chr20:1143957-Alternative-G;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Variant T gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ATCGCTGCGCAT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAatcgctgcgcatAGATCGAGACCCGACGC chr20:1143957-Variant-T;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Variant T gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggt CTAACTTACGAG CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAActaacttacgagAGATCGAGACCCGACGC chr20:1143957-Variant-T;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative A gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACATGAAGTGCT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAacatgaagtgctAGATCGAGACCCGACGC chr20:1143957-Alternative-A;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Variant T gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggt CATCATGGCCGT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAcatcatggccgtAGATCGAGACCCGACGC chr20:1143957-Variant-T;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Variant T gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACACACAGCGAT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAacacacagcgatAGATCGAGACCCGACGC chr20:1143957-Variant-T;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Reference C gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GCGCGTAATGCT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAgcgcgtaatgctAGATCGAGACCCGACGC chr20:1143957-Reference-C;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative A gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACCGATCTACGA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAaccgatctacgaAGATCGAGACCCGACGC chr20:1143957-Alternative-A;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Reference C gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GGTTCGAACGAG CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAggttcgaacgagAGATCGAGACCCGACGC chr20:1143957-Reference-C;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative A gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GTCGGAAGACGT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAgtcggaagacgtAGATCGAGACCCGACGC chr20:1143957-Alternative-A;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Variant T gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GGAGATGAATGA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagTagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAggagatgaatgaAGATCGAGACCCGACGC chr20:1143957-Variant-T;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Reference C gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GTCGTTATGTGA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAgtcgttatgtgaAGATCGAGACCCGACGC chr20:1143957-Reference-C;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative G gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACTTCCGAAGAA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAacttccgaagaaAGATCGAGACCCGACGC chr20:1143957-Alternative-G;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative A gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACACGTACACCA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagAagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAacacgtacaccaAGATCGAGACCCGACGC chr20:1143957-Alternative-A;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative G gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggt CTCACATGGTTA CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAActcacatggttaAGATCGAGACCCGACGC chr20:1143957-Alternative-G;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Reference C gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggt GGATAACGCGAT CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAggataacgcgatAGATCGAGACCCGACGC chr20:1143957-Reference-C;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Reference C gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggt ACTTGGTCATTC CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagCagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAacttggtcattcAGATCGAGACCCGACGC chr20:1143957-Reference-C;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative G gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggt CTCTCACGGTAC CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAActctcacggtacAGATCGAGACCCGACGC chr20:1143957-Alternative-G;Patient-59 chr20:1143957-CT DeNovo Patient-59 intronic PSMF1 NA 9.9e-05 -0.12 1.2 -7.74 PSMF1 50050 Alternative G gttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggt CATTAGCGCGAG CGACGCGGTCTCTCTCTgttttcggtcagtctcttcctttggggtggaggaggcagttgttgctgagGagctgagaaagcactgccacatacgctgcccctccacacctagagcggtAGAGGGAGACGGACGTCTCAATAAcattagcgcgagAGATCGAGACCCGACGC chr20:1143957-Alternative-G;Patient-59 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Variant G aatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CTGTTCCATTGA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAActgttccattgaAGATCGAGACCCGACGC chr20:13530832-Variant-G;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Variant G aatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca AGAGTCATCGGC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAagagtcatcggcAGATCGAGACCCGACGC chr20:13530832-Variant-G;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Variant G aatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CTGAAGATACCA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAActgaagataccaAGATCGAGACCCGACGC chr20:13530832-Variant-G;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Variant G aatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca ACGGCAGATCCT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAacggcagatcctAGATCGAGACCCGACGC chr20:13530832-Variant-G;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative T aatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca GATAACACGTGA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAgataacacgtgaAGATCGAGACCCGACGC chr20:13530832-Alternative-T;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative T aatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca GATTCATGCGCG CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAgattcatgcgcgAGATCGAGACCCGACGC chr20:13530832-Alternative-T;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Variant G aatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca AACTAACCACGT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaGagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAaactaaccacgtAGATCGAGACCCGACGC chr20:13530832-Variant-G;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative T aatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca AACAACCGCTTA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAaacaaccgcttaAGATCGAGACCCGACGC chr20:13530832-Alternative-T;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Reference C aatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca GTCGTCCATTAT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAgtcgtccattatAGATCGAGACCCGACGC chr20:13530832-Reference-C;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative T aatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CAACAACACCAC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAcaacaacaccacAGATCGAGACCCGACGC chr20:13530832-Alternative-T;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Reference C aatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca ATCCGATATCGA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAatccgatatcgaAGATCGAGACCCGACGC chr20:13530832-Reference-C;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Reference C aatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CGCTGTATCGTC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAcgctgtatcgtcAGATCGAGACCCGACGC chr20:13530832-Reference-C;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative T aatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca ACATAAGCGTAC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaTagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAacataagcgtacAGATCGAGACCCGACGC chr20:13530832-Alternative-T;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative A aatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CGAACTTGACCA CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAcgaacttgaccaAGATCGAGACCCGACGC chr20:13530832-Alternative-A;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Reference C aatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca GGTGGAATGCAC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAggtggaatgcacAGATCGAGACCCGACGC chr20:13530832-Reference-C;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative A aatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca GAGCTCGACTTC CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAgagctcgacttcAGATCGAGACCCGACGC chr20:13530832-Alternative-A;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative A aatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca AATCGAACTACG CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAaatcgaactacgAGATCGAGACCCGACGC chr20:13530832-Alternative-A;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Reference C aatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca ACGCATGACGCT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaCagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAacgcatgacgctAGATCGAGACCCGACGC chr20:13530832-Reference-C;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative A aatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca CTAGTCTTCAGT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAActagtcttcagtAGATCGAGACCCGACGC chr20:13530832-Alternative-A;Patient-32 chr20:13530832-CG DeNovo Patient-32 intronic TASP1 0.000297 9.9e-05 -0.69 0.02 -4.08 TASP1 88750 Alternative A aatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactca AGGAGTTGGATT CGACGCGGTCTCTCTCTaatatatacacatacacacacacacacacacacacacacacacacacacaAagagacactgcaattgtccagtcatcaaaggtcgaaagttttagactcaAGAGGGAGACGGACGTCTCAATAAaggagttggattAGATCGAGACCCGACGC chr20:13530832-Alternative-A;Patient-32 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative G agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ATAATGGCTACC CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAataatggctaccAGATCGAGACCCGACGC chr20:13952239-Alternative-G;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative G agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ACGCGATTACGG CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAacgcgattacggAGATCGAGACCCGACGC chr20:13952239-Alternative-G;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Reference T agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ACGATTACTGCT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAacgattactgctAGATCGAGACCCGACGC chr20:13952239-Reference-T;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative G agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ATTCGCGCAACG CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAattcgcgcaacgAGATCGAGACCCGACGC chr20:13952239-Alternative-G;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative G agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ACAGGATCGAGT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAacaggatcgagtAGATCGAGACCCGACGC chr20:13952239-Alternative-G;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative G agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ATAACGGCGCGT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaGtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAataacggcgcgtAGATCGAGACCCGACGC chr20:13952239-Alternative-G;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Reference T agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CAGCATCTGGAT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcagcatctggatAGATCGAGACCCGACGC chr20:13952239-Reference-T;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Reference T agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CAGTACGGACGA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcagtacggacgaAGATCGAGACCCGACGC chr20:13952239-Reference-T;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Reference T agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc GCCTTCTTGTGG CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAgccttcttgtggAGATCGAGACCCGACGC chr20:13952239-Reference-T;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Reference T agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc AGCCTTCGCAGA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaTtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAagccttcgcagaAGATCGAGACCCGACGC chr20:13952239-Reference-T;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Variant A agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ACCTACCGGAGA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAacctaccggagaAGATCGAGACCCGACGC chr20:13952239-Variant-A;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative C agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ATCCGCTCGGTT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAatccgctcggttAGATCGAGACCCGACGC chr20:13952239-Alternative-C;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative C agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc ATTCAAGCGCGA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAattcaagcgcgaAGATCGAGACCCGACGC chr20:13952239-Alternative-C;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Variant A agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CACATACCACTT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcacataccacttAGATCGAGACCCGACGC chr20:13952239-Variant-A;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Variant A agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CATCTCGTCATA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcatctcgtcataAGATCGAGACCCGACGC chr20:13952239-Variant-A;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative C agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CGACGGTTAATT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcgacggttaattAGATCGAGACCCGACGC chr20:13952239-Alternative-C;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Variant A agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CGTGACGTTCCT CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcgtgacgttcctAGATCGAGACCCGACGC chr20:13952239-Variant-A;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Variant A agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CGTCGAATATCA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaAtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcgtcgaatatcaAGATCGAGACCCGACGC chr20:13952239-Variant-A;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative C agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc GGTACTGCATTA CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAggtactgcattaAGATCGAGACCCGACGC chr20:13952239-Alternative-C;Patient-37 chr20:13952239-TA DeNovo Patient-37 intronic SEL1L2 NA 4.95e-05 -0.02 2.33 0.42 SEL1L2 23739 Alternative C agcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgcc CGCGATAAGGAC CGACGCGGTCTCTCTCTagcctcctgagtagctgggaccacaggcatgtgccaccatagctagctaaCtttttttttttttgtatttttagtagagatgaggtttcaccatgttgccAGAGGGAGACGGACGTCTCAATAAcgcgataaggacAGATCGAGACCCGACGC chr20:13952239-Alternative-C;Patient-37 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative A ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttga AGCGTCAGAATA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAagcgtcagaataAGATCGAGACCCGACGC chr20:1443105-Alternative-A;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Variant C ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttga ATCTGGTTCTGT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAatctggttctgtAGATCGAGACCCGACGC chr20:1443105-Variant-C;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative A ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttga AACGCACCGAGA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAaacgcaccgagaAGATCGAGACCCGACGC chr20:1443105-Alternative-A;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative A ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttga CTCAAGCTCGAA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAActcaagctcgaaAGATCGAGACCCGACGC chr20:1443105-Alternative-A;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative A ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttga GGACACTCGGTT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAggacactcggttAGATCGAGACCCGACGC chr20:1443105-Alternative-A;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative A ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttga GGAATGAAGTCA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgAccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAggaatgaagtcaAGATCGAGACCCGACGC chr20:1443105-Alternative-A;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Variant C ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttga GCAATCTTACCT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgcaatcttacctAGATCGAGACCCGACGC chr20:1443105-Variant-C;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Variant C ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttga GATATCGCCAAG CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgatatcgccaagAGATCGAGACCCGACGC chr20:1443105-Variant-C;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Reference T ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttga CTGTCGTACTAT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAActgtcgtactatAGATCGAGACCCGACGC chr20:1443105-Reference-T;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Variant C ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttga CTGGTAGGCGAT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAActggtaggcgatAGATCGAGACCCGACGC chr20:1443105-Variant-C;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Reference T ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttga GAATTGTTGCAC CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgaattgttgcacAGATCGAGACCCGACGC chr20:1443105-Reference-T;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Reference T ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttga CGATTACGGTAT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAcgattacggtatAGATCGAGACCCGACGC chr20:1443105-Reference-T;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Variant C ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttga GACTGATTCGAA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgCccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgactgattcgaaAGATCGAGACCCGACGC chr20:1443105-Variant-C;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Reference T ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttga GAGGTTGCTTCG CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgaggttgcttcgAGATCGAGACCCGACGC chr20:1443105-Reference-T;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Reference T ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttga CGTCGTCGGATA CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgTccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAcgtcgtcggataAGATCGAGACCCGACGC chr20:1443105-Reference-T;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative G ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttga GTTGATGCACCG CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAgttgatgcaccgAGATCGAGACCCGACGC chr20:1443105-Alternative-G;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative G ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttga AGTGACGTTCAT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAagtgacgttcatAGATCGAGACCCGACGC chr20:1443105-Alternative-G;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative G ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttga ACATCGGTATGT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAacatcggtatgtAGATCGAGACCCGACGC chr20:1443105-Alternative-G;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative G ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttga GGTTGCTACGGT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAggttgctacggtAGATCGAGACCCGACGC chr20:1443105-Alternative-G;Patient-93 chr20:1443105-TC Inherited Patient-93 intronic NSFL1C NA 4.95e-05 -0.15 1.02 -3.09 NSFL1C 5231 Alternative G ctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttga AATACGAGTGGT CGACGCGGTCTCTCTCTctgagccttaaccagagcaataaagcaatgcctcttggaccaaatgtgcgGccagtctttttactcacttcagttctaatgttaaactctatgtccttgaAGAGGGAGACGGACGTCTCAATAAaatacgagtggtAGATCGAGACCCGACGC chr20:1443105-Alternative-G;Patient-93 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Reference A cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagct GAGTAGAAGAGT CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAgagtagaagagtAGATCGAGACCCGACGC chr20:1541546-Reference-A;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Reference A cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagct AAGTGACCGGCA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAaagtgaccggcaAGATCGAGACCCGACGC chr20:1541546-Reference-A;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Variant G cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CGCATACCATTA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcgcataccattaAGATCGAGACCCGACGC chr20:1541546-Variant-G;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative C cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct GCGTTAGCTGAC CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAgcgttagctgacAGATCGAGACCCGACGC chr20:1541546-Alternative-C;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Reference A cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagct ACAATAAGACCG CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAacaataagaccgAGATCGAGACCCGACGC chr20:1541546-Reference-A;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative C cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CGGAACGGATCA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcggaacggatcaAGATCGAGACCCGACGC chr20:1541546-Alternative-C;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Reference A cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagct AGGTGCGAAGTC CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAaggtgcgaagtcAGATCGAGACCCGACGC chr20:1541546-Reference-A;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Variant G cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct GCGACCGCTTAA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAgcgaccgcttaaAGATCGAGACCCGACGC chr20:1541546-Variant-G;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative C cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CGGTACAAGATA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcggtacaagataAGATCGAGACCCGACGC chr20:1541546-Alternative-C;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative C cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CGGAGTTCATGG CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcggagttcatggAGATCGAGACCCGACGC chr20:1541546-Alternative-C;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Reference A cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagct ATCACGGTTCTA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagActtgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAatcacggttctaAGATCGAGACCCGACGC chr20:1541546-Reference-A;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Variant G cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CAGAGGTACTGA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcagaggtactgaAGATCGAGACCCGACGC chr20:1541546-Variant-G;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative T cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CGGTCCATTATA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcggtccattataAGATCGAGACCCGACGC chr20:1541546-Alternative-T;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative T cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct ATCATCCTGGCG CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAatcatcctggcgAGATCGAGACCCGACGC chr20:1541546-Alternative-T;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative T cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct CATTCTAAGCGA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAcattctaagcgaAGATCGAGACCCGACGC chr20:1541546-Alternative-T;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Variant G cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct AGCGTACTATCA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAagcgtactatcaAGATCGAGACCCGACGC chr20:1541546-Variant-G;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative T cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct ACTATCCTGCAC CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAactatcctgcacAGATCGAGACCCGACGC chr20:1541546-Alternative-T;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative T cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct ATCTCGTTGGTT CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagTcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAatctcgttggttAGATCGAGACCCGACGC chr20:1541546-Alternative-T;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Alternative C cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct GTCCGGTTAGCT CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagCcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAgtccggttagctAGATCGAGACCCGACGC chr20:1541546-Alternative-C;Patient-54 chr20:1541546-AG Inherited Patient-54 intergenic 0.000828 0.00205 -0.28 0.43 -3.51 NSFL1C 93208 Variant G cctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagct GCGGTCTATCGA CGACGCGGTCTCTCTCTcctctcagcatccattacacaattcatgggaacaacttgttcctgtgaagGcttgggctcaggacattattcactcactcatagtcaggtcctcaaagctAGAGGGAGACGGACGTCTCAATAAgcggtctatcgaAGATCGAGACCCGACGC chr20:1541546-Variant-G;Patient-54 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative G taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ACTCGTCACGAA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAactcgtcacgaaAGATCGAGACCCGACGC chr20:16677940-Alternative-G;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Variant T taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CGGTCTGAGTCT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAcggtctgagtctAGATCGAGACCCGACGC chr20:16677940-Variant-T;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative C taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ATTGCCTTACGA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAattgccttacgaAGATCGAGACCCGACGC chr20:16677940-Alternative-C;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Variant T taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ACCGGATCTTAA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAaccggatcttaaAGATCGAGACCCGACGC chr20:16677940-Variant-T;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative G taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg GACGACAGTAAG CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAgacgacagtaagAGATCGAGACCCGACGC chr20:16677940-Alternative-G;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative C taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CGTAGATAGCGG CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAcgtagatagcggAGATCGAGACCCGACGC chr20:16677940-Alternative-C;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative C taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ACAGCTAGGCGT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAacagctaggcgtAGATCGAGACCCGACGC chr20:16677940-Alternative-C;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Variant T taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CACGTGAACGCT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAcacgtgaacgctAGATCGAGACCCGACGC chr20:16677940-Variant-T;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Variant T taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CAATTGGAGCAA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAcaattggagcaaAGATCGAGACCCGACGC chr20:16677940-Variant-T;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative G taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg GGACGTGTACAG CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAggacgtgtacagAGATCGAGACCCGACGC chr20:16677940-Alternative-G;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Reference A taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CTTGAAGATCCA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAActtgaagatccaAGATCGAGACCCGACGC chr20:16677940-Reference-A;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Reference A taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CATCGCTACACG CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAcatcgctacacgAGATCGAGACCCGACGC chr20:16677940-Reference-A;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Reference A taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg AACTTAGCTGGT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAaacttagctggtAGATCGAGACCCGACGC chr20:16677940-Reference-A;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative C taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg GAGTCATGTACT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAgagtcatgtactAGATCGAGACCCGACGC chr20:16677940-Alternative-C;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Reference A taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CTGAGTGAACCT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAActgagtgaacctAGATCGAGACCCGACGC chr20:16677940-Reference-A;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative C taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg GCGTGTTCGGAT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatCcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAgcgtgttcggatAGATCGAGACCCGACGC chr20:16677940-Alternative-C;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Reference A taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ACGTAATCTCGA CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatAcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAacgtaatctcgaAGATCGAGACCCGACGC chr20:16677940-Reference-A;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative G taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg CTGTCGAGCGAT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAActgtcgagcgatAGATCGAGACCCGACGC chr20:16677940-Alternative-G;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Alternative G taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg ACGCGTGGTAAC CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatGcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAacgcgtggtaacAGATCGAGACCCGACGC chr20:16677940-Alternative-G;Patient-27 chr20:16677940-AT DeNovo Patient-27 intergenic 0.000605 0.000513 -0.2 0.73 -0.59 SNRPB2 32668 Variant T taaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattgg GAGCAAGCGGAT CGACGCGGTCTCTCTCTtaaaaatacacaaaacataaataatcacaaccagtgatgaactattccatTcacaacatccgtaaaggcatgcttgagttaggggagagatcttaattggAGAGGGAGACGGACGTCTCAATAAgagcaagcggatAGATCGAGACCCGACGC chr20:16677940-Variant-T;Patient-27 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Variant G ttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AGAGGTAGATGT CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAagaggtagatgtAGATCGAGACCCGACGC chr20:16716317-Variant-G;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Variant G ttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GGAACGAATCGA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAggaacgaatcgaAGATCGAGACCCGACGC chr20:16716317-Variant-G;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative T ttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AAGCGCATGTAA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAaagcgcatgtaaAGATCGAGACCCGACGC chr20:16716317-Alternative-T;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Variant G ttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GTAACCAAGTCA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAgtaaccaagtcaAGATCGAGACCCGACGC chr20:16716317-Variant-G;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative T ttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CTTGAACCTAAG CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAActtgaacctaagAGATCGAGACCCGACGC chr20:16716317-Alternative-T;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Reference A ttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CGTATCGATCGG CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcgtatcgatcggAGATCGAGACCCGACGC chr20:16716317-Reference-A;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Variant G ttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GACCAACTAGAA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAgaccaactagaaAGATCGAGACCCGACGC chr20:16716317-Variant-G;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative T ttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AGTGCGAGCCTA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAagtgcgagcctaAGATCGAGACCCGACGC chr20:16716317-Alternative-T;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative T ttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GGTGGATAGTTA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAggtggatagttaAGATCGAGACCCGACGC chr20:16716317-Alternative-T;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative T ttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CAGACAACGTCT CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactTtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcagacaacgtctAGATCGAGACCCGACGC chr20:16716317-Alternative-T;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative C ttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CGAGGCATCAAG CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcgaggcatcaagAGATCGAGACCCGACGC chr20:16716317-Alternative-C;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Reference A ttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AAGATGGTAGTC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAaagatggtagtcAGATCGAGACCCGACGC chr20:16716317-Reference-A;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Variant G ttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CAACACCGAATC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactGtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcaacaccgaatcAGATCGAGACCCGACGC chr20:16716317-Variant-G;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative C ttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CATCTAACCTAC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcatctaacctacAGATCGAGACCCGACGC chr20:16716317-Alternative-C;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Reference A ttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GTCATGTGACCG CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAgtcatgtgaccgAGATCGAGACCCGACGC chr20:16716317-Reference-A;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative C ttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AATAGGCTGTTC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAaataggctgttcAGATCGAGACCCGACGC chr20:16716317-Alternative-C;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Reference A ttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg GCAAGATTCGAC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAgcaagattcgacAGATCGAGACCCGACGC chr20:16716317-Reference-A;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative C ttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg CAGATCATCGGC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAcagatcatcggcAGATCGAGACCCGACGC chr20:16716317-Alternative-C;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Reference A ttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AAGACTGGCGAC CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactAtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAaagactggcgacAGATCGAGACCCGACGC chr20:16716317-Reference-A;Patient-58 chr20:16716317-AG Inherited Patient-58 intronic SNRPB2 0.000127 0.000148471 -0.42 0.16 -7.45 SNRPB2 5707 Alternative C ttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttgg AACTTAGGCGAA CGACGCGGTCTCTCTCTttacctactttccaggcatttggaatgcaaactataattgatcaaatactCtcttggacaagtttttgaacccttccctgttgtaactgttgcctcttggAGAGGGAGACGGACGTCTCAATAAaacttaggcgaaAGATCGAGACCCGACGC chr20:16716317-Alternative-C;Patient-58 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative G acttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt CTGAGGTTCAAT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAActgaggttcaatAGATCGAGACCCGACGC chr20:16792638-Alternative-G;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative G acttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt CAACGGACGAAG CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAcaacggacgaagAGATCGAGACCCGACGC chr20:16792638-Alternative-G;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative G acttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GTACGACTAGAA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAgtacgactagaaAGATCGAGACCCGACGC chr20:16792638-Alternative-G;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Variant T acttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GACTGTATCGGC CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAgactgtatcggcAGATCGAGACCCGACGC chr20:16792638-Variant-T;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative G acttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GCATGCTTGCCT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAgcatgcttgcctAGATCGAGACCCGACGC chr20:16792638-Alternative-G;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative G acttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGGCGCTGACTA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttGaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAaggcgctgactaAGATCGAGACCCGACGC chr20:16792638-Alternative-G;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative A acttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt CTGCGTTGGCAA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAActgcgttggcaaAGATCGAGACCCGACGC chr20:16792638-Alternative-A;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Variant T acttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt ATTACAAGTCGC CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAattacaagtcgcAGATCGAGACCCGACGC chr20:16792638-Variant-T;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Reference C acttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AAGATACGTGCA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAaagatacgtgcaAGATCGAGACCCGACGC chr20:16792638-Reference-C;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Reference C acttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AACAGACAACGG CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAaacagacaacggAGATCGAGACCCGACGC chr20:16792638-Reference-C;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Variant T acttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGGTGAATTGCA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAaggtgaattgcaAGATCGAGACCCGACGC chr20:16792638-Variant-T;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Reference C acttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGTCGAGTGAGA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAagtcgagtgagaAGATCGAGACCCGACGC chr20:16792638-Reference-C;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Variant T acttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GGTAATGCTTGT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAggtaatgcttgtAGATCGAGACCCGACGC chr20:16792638-Variant-T;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Variant T acttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt CGACTCCTAATT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttTaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAcgactcctaattAGATCGAGACCCGACGC chr20:16792638-Variant-T;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Reference C acttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGATCCTGATAC CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAagatcctgatacAGATCGAGACCCGACGC chr20:16792638-Reference-C;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Reference C acttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GCATGTAGGTTA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttCaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAgcatgtaggttaAGATCGAGACCCGACGC chr20:16792638-Reference-C;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative A acttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AAGTGACGAGAA CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAaagtgacgagaaAGATCGAGACCCGACGC chr20:16792638-Alternative-A;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative A acttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGTGCGATAGTT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAagtgcgatagttAGATCGAGACCCGACGC chr20:16792638-Alternative-A;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative A acttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt GGCGATTAAGAT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAggcgattaagatAGATCGAGACCCGACGC chr20:16792638-Alternative-A;Patient-99 chr20:16792638-CT DeNovo Patient-99 intergenic 3.2e-05 0.000513 0.16 5.25 0.22 SNRPB2 82028 Alternative A acttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagt AGCAGTATCCAT CGACGCGGTCTCTCTCTacttggttttcattctctctcttgcctgctgccatgtaagacatggctttAaccttctgccatgctcgtgaggcctccccagtcatgtagagctgtaagtAGAGGGAGACGGACGTCTCAATAAagcagtatccatAGATCGAGACCCGACGC chr20:16792638-Alternative-A;Patient-99 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative T gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaa CTCGTGGTCTAC CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAActcgtggtctacAGATCGAGACCCGACGC chr20:18350833-Alternative-T;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative T gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaa CACATTGGTCGA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAcacattggtcgaAGATCGAGACCCGACGC chr20:18350833-Alternative-T;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative T gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaa CTTGCGGTTGCA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAActtgcggttgcaAGATCGAGACCCGACGC chr20:18350833-Alternative-T;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative T gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaa CTCATACTGCCG CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAActcatactgccgAGATCGAGACCCGACGC chr20:18350833-Alternative-T;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative T gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaa CTGCGTAATAGT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggTggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAActgcgtaatagtAGATCGAGACCCGACGC chr20:18350833-Alternative-T;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative A gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaa AGCCAGGACCTA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAagccaggacctaAGATCGAGACCCGACGC chr20:18350833-Alternative-A;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative A gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaa CGGCTTAGACTA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAcggcttagactaAGATCGAGACCCGACGC chr20:18350833-Alternative-A;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative A gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaa CGCTACGTAGAT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAcgctacgtagatAGATCGAGACCCGACGC chr20:18350833-Alternative-A;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative A gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaa ATCGTTCTTGGT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAatcgttcttggtAGATCGAGACCCGACGC chr20:18350833-Alternative-A;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Reference G gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaa ACTATCGTGTGA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAactatcgtgtgaAGATCGAGACCCGACGC chr20:18350833-Reference-G;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Alternative A gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaa CGCATCAGGTAA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggAggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAcgcatcaggtaaAGATCGAGACCCGACGC chr20:18350833-Alternative-A;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Reference G gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaa CGTAGAGCAACG CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAcgtagagcaacgAGATCGAGACCCGACGC chr20:18350833-Reference-G;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Variant C gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaa ATCGAGCTAACA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAatcgagctaacaAGATCGAGACCCGACGC chr20:18350833-Variant-C;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Reference G gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaa ACCTAGTCGCGT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAacctagtcgcgtAGATCGAGACCCGACGC chr20:18350833-Reference-G;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Variant C gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaa AGTGATCCGTTA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAagtgatccgttaAGATCGAGACCCGACGC chr20:18350833-Variant-C;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Variant C gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaa GTATAGGTCGTT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAgtataggtcgttAGATCGAGACCCGACGC chr20:18350833-Variant-C;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Variant C gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaa ACGTAGACTATC CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAacgtagactatcAGATCGAGACCCGACGC chr20:18350833-Variant-C;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Variant C gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaa ATCCTGACGCGT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggCggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAatcctgacgcgtAGATCGAGACCCGACGC chr20:18350833-Variant-C;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Reference G gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaa GGTAATCCGCAT CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAggtaatccgcatAGATCGAGACCCGACGC chr20:18350833-Reference-G;Patient-61 chr20:18350833-GC Inherited Patient-61 intergenic NA 0.000512821 -0.27 0.45 0 POLR3F 97199 Reference G gaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaa GAGGTGGACCTA CGACGCGGTCTCTCTCTgaacacatggacacaggaaggggaacatcacacactggggcctgttgtggGggggggggcggggggagggatagcattaggagatatacctaatgttaaaAGAGGGAGACGGACGTCTCAATAAgaggtggacctaAGATCGAGACCCGACGC chr20:18350833-Reference-G;Patient-61 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative G ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa GGACACTAGCCA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAggacactagccaAGATCGAGACCCGACGC chr20:21078414-Alternative-G;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative G ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa ACCAAGGAGGAC CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAaccaaggaggacAGATCGAGACCCGACGC chr20:21078414-Alternative-G;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative G ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CAGACAACGCCA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAcagacaacgccaAGATCGAGACCCGACGC chr20:21078414-Alternative-G;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Variant T ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa GCGGACTAATAT CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAgcggactaatatAGATCGAGACCCGACGC chr20:21078414-Variant-T;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative G ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa GTGATGATGTGA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAgtgatgatgtgaAGATCGAGACCCGACGC chr20:21078414-Alternative-G;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative G ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa GTATTCTAGTGG CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaGctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAgtattctagtggAGATCGAGACCCGACGC chr20:21078414-Alternative-G;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Variant T ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CTAGCGTTACGG CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAActagcgttacggAGATCGAGACCCGACGC chr20:21078414-Variant-T;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Variant T ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa AGATGGTTCTGG CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAagatggttctggAGATCGAGACCCGACGC chr20:21078414-Variant-T;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Variant T ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CGCCTACTCGTT CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAcgcctactcgttAGATCGAGACCCGACGC chr20:21078414-Variant-T;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Variant T ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa AGTCCGGAGAAG CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaTctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAagtccggagaagAGATCGAGACCCGACGC chr20:21078414-Variant-T;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative A ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa ATTGATGCGACT CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAattgatgcgactAGATCGAGACCCGACGC chr20:21078414-Alternative-A;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative A ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa ATACTAGCTGAC CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAatactagctgacAGATCGAGACCCGACGC chr20:21078414-Alternative-A;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative A ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CTAATTAGCGAC CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAActaattagcgacAGATCGAGACCCGACGC chr20:21078414-Alternative-A;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Reference C ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa AGCTCTCCATGA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAagctctccatgaAGATCGAGACCCGACGC chr20:21078414-Reference-C;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative A ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa AATCGGCGCACA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAaatcggcgcacaAGATCGAGACCCGACGC chr20:21078414-Alternative-A;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Alternative A ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa ATTCTAGGTCGA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaActcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAattctaggtcgaAGATCGAGACCCGACGC chr20:21078414-Alternative-A;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Reference C ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CTGAAGTCAGAA CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAActgaagtcagaaAGATCGAGACCCGACGC chr20:21078414-Reference-C;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Reference C ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa GTATTAGGACCT CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAgtattaggacctAGATCGAGACCCGACGC chr20:21078414-Reference-C;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Reference C ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CTAATATGGTCG CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAActaatatggtcgAGATCGAGACCCGACGC chr20:21078414-Reference-C;Patient-55 chr20:21078414-CT DeNovo Patient-55 intergenic NA 0.000512821 0.27 6.79 -0.39 KIZ 28209 Reference C ccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaa CATGAGAGCGAC CGACGCGGTCTCTCTCTccccccaacaatttcctgttatgctcaacaaacctctctccaaatgcaaaCctcagtctcagttagtagactgtgttgaaaatatgtgtctaatcaccaaAGAGGGAGACGGACGTCTCAATAAcatgagagcgacAGATCGAGACCCGACGC chr20:21078414-Reference-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative C ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc AGAATGCACCGT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAagaatgcaccgtAGATCGAGACCCGACGC chr20:21224094-Alternative-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative C ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GATGGTAAGCAT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAgatggtaagcatAGATCGAGACCCGACGC chr20:21224094-Alternative-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative C ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc CATCATCTTCCT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAcatcatcttcctAGATCGAGACCCGACGC chr20:21224094-Alternative-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Variant A ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc CGAGTCGTTGAC CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAcgagtcgttgacAGATCGAGACCCGACGC chr20:21224094-Variant-A;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Variant A ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc CAACACGTCCAT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAcaacacgtccatAGATCGAGACCCGACGC chr20:21224094-Variant-A;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Variant A ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GGAATTGTCCAT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAggaattgtccatAGATCGAGACCCGACGC chr20:21224094-Variant-A;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Reference G ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc AGCTGCGAGCAA CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAagctgcgagcaaAGATCGAGACCCGACGC chr20:21224094-Reference-G;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative C ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc CTCGCCAATGGT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAActcgccaatggtAGATCGAGACCCGACGC chr20:21224094-Alternative-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Variant A ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc AGTCTATCCGCT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAagtctatccgctAGATCGAGACCCGACGC chr20:21224094-Variant-A;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative C ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc ATTGACTGGACA CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcCtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAattgactggacaAGATCGAGACCCGACGC chr20:21224094-Alternative-C;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative T ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc ACTTGAAGGTTC CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAacttgaaggttcAGATCGAGACCCGACGC chr20:21224094-Alternative-T;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative T ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GACATTCGGCTT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAgacattcggcttAGATCGAGACCCGACGC chr20:21224094-Alternative-T;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Variant A ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GACGTCCTATAA CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcAtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAgacgtcctataaAGATCGAGACCCGACGC chr20:21224094-Variant-A;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative T ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GCGTGAACATCG CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAgcgtgaacatcgAGATCGAGACCCGACGC chr20:21224094-Alternative-T;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative T ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GGAGTTCATGCA CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAggagttcatgcaAGATCGAGACCCGACGC chr20:21224094-Alternative-T;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Reference G ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc GTCAGACTTCAA CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAgtcagacttcaaAGATCGAGACCCGACGC chr20:21224094-Reference-G;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Alternative T ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc CGGTATTGTAAG CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcTtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAcggtattgtaagAGATCGAGACCCGACGC chr20:21224094-Alternative-T;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Reference G ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc ACCTGTCGTTCG CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAacctgtcgttcgAGATCGAGACCCGACGC chr20:21224094-Reference-G;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Reference G ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc AATGCTCTCTGT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAaatgctctctgtAGATCGAGACCCGACGC chr20:21224094-Reference-G;Patient-55 chr20:21224094-GA DeNovo Patient-55 intronic KIZ 0.000574 4.95e-05 -0.27 0.45 -4.8 XRN2 59847 Reference G ctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctccc AGATGATCGACT CGACGCGGTCTCTCTCTctgtgtccagaagaacaaggccctggctgtgagaagggcggtggtggtgcGtggggtagggcaaagtgtcgagccatgcaccaagaatggtttctctcccAGAGGGAGACGGACGTCTCAATAAagatgatcgactAGATCGAGACCCGACGC chr20:21224094-Reference-G;Patient-55 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative C taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg AGTCGTATCTTC CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAagtcgtatcttcAGATCGAGACCCGACGC chr20:21590160-Alternative-C;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Reference G taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg ACTAGACGGTGG CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAactagacggtggAGATCGAGACCCGACGC chr20:21590160-Reference-G;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Reference G taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GTTAAGACGTCT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAgttaagacgtctAGATCGAGACCCGACGC chr20:21590160-Reference-G;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Variant A taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GGTCATAGACTA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAggtcatagactaAGATCGAGACCCGACGC chr20:21590160-Variant-A;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Variant A taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GTTATCAGGACG CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAgttatcaggacgAGATCGAGACCCGACGC chr20:21590160-Variant-A;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative C taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg AGCTCGGTGGAA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAagctcggtggaaAGATCGAGACCCGACGC chr20:21590160-Alternative-C;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Variant A taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GGCCGGATGATT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAggccggatgattAGATCGAGACCCGACGC chr20:21590160-Variant-A;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Variant A taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CGCGATCTGTCA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcgcgatctgtcaAGATCGAGACCCGACGC chr20:21590160-Variant-A;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative C taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GTTAGCGGCAAG CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAgttagcggcaagAGATCGAGACCCGACGC chr20:21590160-Alternative-C;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Reference G taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg AAGGCGTCAGCT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAaaggcgtcagctAGATCGAGACCCGACGC chr20:21590160-Reference-G;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Reference G taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CGACAACGACGA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcgacaacgacgaAGATCGAGACCCGACGC chr20:21590160-Reference-G;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative C taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg AATGATAGACCG CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAaatgatagaccgAGATCGAGACCCGACGC chr20:21590160-Alternative-C;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Reference G taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg ACTCAACACGGC CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaGatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAactcaacacggcAGATCGAGACCCGACGC chr20:21590160-Reference-G;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative C taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CGTACGGTGGAA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaCatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcgtacggtggaaAGATCGAGACCCGACGC chr20:21590160-Alternative-C;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative T taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CATGCTAACAGT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcatgctaacagtAGATCGAGACCCGACGC chr20:21590160-Alternative-T;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative T taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CAAGCTGACTTA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcaagctgacttaAGATCGAGACCCGACGC chr20:21590160-Alternative-T;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Variant A taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg AGTCAGTGTAGA CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaAatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAagtcagtgtagaAGATCGAGACCCGACGC chr20:21590160-Variant-A;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative T taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CGACTGGCGTAT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAcgactggcgtatAGATCGAGACCCGACGC chr20:21590160-Alternative-T;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative T taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg GCATGTATCCGT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAAgcatgtatccgtAGATCGAGACCCGACGC chr20:21590160-Alternative-T;Patient-36 chr20:21590160-GA DeNovo Patient-36 intergenic 6.4e-05 0.000513 0.07 3.77 1.74 NKX2-2 95495 Alternative T taacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatg CTAATTGGTCCT CGACGCGGTCTCTCTCTtaacacactcgggtagagagcttatgggagggtccagctgtggcacaaaaTatggaatgttgcatcctgccagaggagaaggatcaaggagggctgcatgAGAGGGAGACGGACGTCTCAATAActaattggtcctAGATCGAGACCCGACGC chr20:21590160-Alternative-T;Patient-36 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative T aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GGATACAGGATT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAggatacaggattAGATCGAGACCCGACGC chr20:21626733-Alternative-T;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Variant A aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga AACTCTACTTCG CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAaactctacttcgAGATCGAGACCCGACGC chr20:21626733-Variant-A;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative T aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga AGCAACTGCGCA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAagcaactgcgcaAGATCGAGACCCGACGC chr20:21626733-Alternative-T;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative T aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GCGCGATCTCAT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgcgcgatctcatAGATCGAGACCCGACGC chr20:21626733-Alternative-T;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative T aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga CTCGCATATAAG CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAActcgcatataagAGATCGAGACCCGACGC chr20:21626733-Alternative-T;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Variant A aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga ACGTAGCATTCA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAacgtagcattcaAGATCGAGACCCGACGC chr20:21626733-Variant-A;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative T aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GCGCATGAATCG CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcTgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgcgcatgaatcgAGATCGAGACCCGACGC chr20:21626733-Alternative-T;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative C aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga ACTCTAAGGTGT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAactctaaggtgtAGATCGAGACCCGACGC chr20:21626733-Alternative-C;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Variant A aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga CAACGACTATCA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAcaacgactatcaAGATCGAGACCCGACGC chr20:21626733-Variant-A;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Variant A aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GCCAACCGTACA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgccaaccgtacaAGATCGAGACCCGACGC chr20:21626733-Variant-A;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative C aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga CTAGTAGCCTAA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAActagtagcctaaAGATCGAGACCCGACGC chr20:21626733-Alternative-C;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Variant A aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GGTACGAACAGT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcAgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAggtacgaacagtAGATCGAGACCCGACGC chr20:21626733-Variant-A;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative C aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga CGCATTAGTCAA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAcgcattagtcaaAGATCGAGACCCGACGC chr20:21626733-Alternative-C;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative C aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GTTCGCAACGGT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgttcgcaacggtAGATCGAGACCCGACGC chr20:21626733-Alternative-C;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Reference G aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga ACGTAGTCAAGA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAacgtagtcaagaAGATCGAGACCCGACGC chr20:21626733-Reference-G;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Reference G aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga ATTACGGCTAGT CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAattacggctagtAGATCGAGACCCGACGC chr20:21626733-Reference-G;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Alternative C aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GCAAGAACGCGA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcCgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgcaagaacgcgaAGATCGAGACCCGACGC chr20:21626733-Alternative-C;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Reference G aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga GAAGAGCTGTGA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAgaagagctgtgaAGATCGAGACCCGACGC chr20:21626733-Reference-G;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Reference G aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga AGCAACGTTGCG CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAagcaacgttgcgAGATCGAGACCCGACGC chr20:21626733-Reference-G;Patient-62 chr20:21626733-GA DeNovo Patient-62 intergenic 0.000446 0.000513 -0.55 0.06 0 PAX1 59563 Reference G aaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctgga CGCATACTACGA CGACGCGGTCTCTCTCTaaactttaatgtaaaaatcctcaacaaaatactggcaaactaaattcagcGgcatactaaaaggtttatacaccatgacaaaatgtggtttattcctggaAGAGGGAGACGGACGTCTCAATAAcgcatactacgaAGATCGAGACCCGACGC chr20:21626733-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Reference G ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacag ACAGCTCTCGTC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAacagctctcgtcAGATCGAGACCCGACGC chr20:21671781-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Variant A ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacag CTGCTCGTCTAC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAActgctcgtctacAGATCGAGACCCGACGC chr20:21671781-Variant-A;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Reference G ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacag GGACGATATCCA CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAggacgatatccaAGATCGAGACCCGACGC chr20:21671781-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative T ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacag CATATGGCGAAT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAcatatggcgaatAGATCGAGACCCGACGC chr20:21671781-Alternative-T;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Variant A ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacag AGCGTATGACGC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAagcgtatgacgcAGATCGAGACCCGACGC chr20:21671781-Variant-A;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Variant A ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacag GCGACTTACGAC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAgcgacttacgacAGATCGAGACCCGACGC chr20:21671781-Variant-A;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Reference G ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacag GCGCACCATGTT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAgcgcaccatgttAGATCGAGACCCGACGC chr20:21671781-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative T ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacag GGTCACCGAATC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAggtcaccgaatcAGATCGAGACCCGACGC chr20:21671781-Alternative-T;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Variant A ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacag CTATGCTATTCG CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAActatgctattcgAGATCGAGACCCGACGC chr20:21671781-Variant-A;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative T ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacag GTCTCGACTCGT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAgtctcgactcgtAGATCGAGACCCGACGC chr20:21671781-Alternative-T;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Variant A ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacag AGTGCGCATCGA CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatAaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAagtgcgcatcgaAGATCGAGACCCGACGC chr20:21671781-Variant-A;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Reference G ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacag CGTTGATTGTGA CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAcgttgattgtgaAGATCGAGACCCGACGC chr20:21671781-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative T ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacag CAGCTCAATCGT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAcagctcaatcgtAGATCGAGACCCGACGC chr20:21671781-Alternative-T;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative T ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacag AATGAGTGGACG CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatTaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAaatgagtggacgAGATCGAGACCCGACGC chr20:21671781-Alternative-T;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Reference G ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacag GACCTCGAATAT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatGaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAgacctcgaatatAGATCGAGACCCGACGC chr20:21671781-Reference-G;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative C ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacag ATCACCATCAAG CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAatcaccatcaagAGATCGAGACCCGACGC chr20:21671781-Alternative-C;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative C ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacag ACATGCTCGCAC CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAacatgctcgcacAGATCGAGACCCGACGC chr20:21671781-Alternative-C;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative C ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacag AACCGTAATCGT CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAaaccgtaatcgtAGATCGAGACCCGACGC chr20:21671781-Alternative-C;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative C ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacag AGGCCATGACCA CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAaggccatgaccaAGATCGAGACCCGACGC chr20:21671781-Alternative-C;Patient-62 chr20:21671781-GA DeNovo Patient-62 intergenic 0.000414 0.000513 0.24 6.43 0.91 PAX1 14515 Alternative C ctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacag GTATTGAGATGG CGACGCGGTCTCTCTCTctgtgtgcctaagacagtgggcactgctccaggtgctggggcactgagatCaacaccactcagcacccagccagtagctggtgatctcctggggagacagAGAGGGAGACGGACGTCTCAATAAgtattgagatggAGATCGAGACCCGACGC chr20:21671781-Alternative-C;Patient-62 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative A aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CACGAAGTGACA CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAcacgaagtgacaAGATCGAGACCCGACGC chr20:22513341-Alternative-A;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Variant T aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt AAGGAGGAGTCG CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAaaggaggagtcgAGATCGAGACCCGACGC chr20:22513341-Variant-T;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Variant T aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CAGATTAACCGT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAcagattaaccgtAGATCGAGACCCGACGC chr20:22513341-Variant-T;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Variant T aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt ACATAGCGCACG CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAacatagcgcacgAGATCGAGACCCGACGC chr20:22513341-Variant-T;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Reference C aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GAGCTCGCGTAT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAgagctcgcgtatAGATCGAGACCCGACGC chr20:22513341-Reference-C;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative A aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt AGCTACCAGTAC CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAagctaccagtacAGATCGAGACCCGACGC chr20:22513341-Alternative-A;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative A aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt AGAGTGCGGATT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAagagtgcggattAGATCGAGACCCGACGC chr20:22513341-Alternative-A;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Reference C aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GATTGATTGTGC CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAgattgattgtgcAGATCGAGACCCGACGC chr20:22513341-Reference-C;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Reference C aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt AACCGTCTTGAT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAaaccgtcttgatAGATCGAGACCCGACGC chr20:22513341-Reference-C;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Reference C aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt AAGCAATCCTAC CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAaagcaatcctacAGATCGAGACCCGACGC chr20:22513341-Reference-C;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Variant T aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CTAAGCGACCTT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAActaagcgaccttAGATCGAGACCCGACGC chr20:22513341-Variant-T;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative G aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GGAATGCGTAAT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAggaatgcgtaatAGATCGAGACCCGACGC chr20:22513341-Alternative-G;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative A aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GGTGATAGCAGA CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAggtgatagcagaAGATCGAGACCCGACGC chr20:22513341-Alternative-A;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Variant T aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CTCAACGACGAC CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaTatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAActcaacgacgacAGATCGAGACCCGACGC chr20:22513341-Variant-T;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative G aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CTTATCGCCACT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAActtatcgccactAGATCGAGACCCGACGC chr20:22513341-Alternative-G;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Reference C aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GTATTGTGCTGA CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaCatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAgtattgtgctgaAGATCGAGACCCGACGC chr20:22513341-Reference-C;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative A aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt CGGATCTGCCAA CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaAatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAcggatctgccaaAGATCGAGACCCGACGC chr20:22513341-Alternative-A;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative G aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GTATACGGCGAG CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAgtatacggcgagAGATCGAGACCCGACGC chr20:22513341-Alternative-G;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative G aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt GATATGCGTCAT CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAgatatgcgtcatAGATCGAGACCCGACGC chr20:22513341-Alternative-G;Patient-55 chr20:22513341-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 -0.07 1.72 -0.08 FOXA2 52759 Alternative G aaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagtt ACGGTGTTAGAA CGACGCGGTCTCTCTCTaaaatccgataatctagtgtgtgccatcagttacttcttgctgtgtaacaGatcactccacctgtcagtggcttgattaacatacatttacgtcacagttAGAGGGAGACGGACGTCTCAATAAacggtgttagaaAGATCGAGACCCGACGC chr20:22513341-Alternative-G;Patient-55 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative T caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CTACCAATGTGG CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAActaccaatgtggAGATCGAGACCCGACGC chr20:22526613-Alternative-T;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative C caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt ACAGCTCTGTAA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAacagctctgtaaAGATCGAGACCCGACGC chr20:22526613-Alternative-C;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative T caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt AGCTCGCGTTCA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAagctcgcgttcaAGATCGAGACCCGACGC chr20:22526613-Alternative-T;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative C caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CATAACTACCGG CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAcataactaccggAGATCGAGACCCGACGC chr20:22526613-Alternative-C;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Reference G caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt AGCTCGTTACGG CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAagctcgttacggAGATCGAGACCCGACGC chr20:22526613-Reference-G;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Variant A caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GCATAGTGAACA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAgcatagtgaacaAGATCGAGACCCGACGC chr20:22526613-Variant-A;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Variant A caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GACGTCTATCAA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAgacgtctatcaaAGATCGAGACCCGACGC chr20:22526613-Variant-A;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative C caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GTTGGCATATAC CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAgttggcatatacAGATCGAGACCCGACGC chr20:22526613-Alternative-C;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative T caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CACGAACGATAA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAcacgaacgataaAGATCGAGACCCGACGC chr20:22526613-Alternative-T;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Variant A caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CTTGACAGCATA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAActtgacagcataAGATCGAGACCCGACGC chr20:22526613-Variant-A;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Variant A caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt AGACTGTGGACG CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAagactgtggacgAGATCGAGACCCGACGC chr20:22526613-Variant-A;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Variant A caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CACGGTATAAGA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcAcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAcacggtataagaAGATCGAGACCCGACGC chr20:22526613-Variant-A;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative C caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CTAGCGCCACTA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAActagcgccactaAGATCGAGACCCGACGC chr20:22526613-Alternative-C;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Reference G caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt CTAGTTCGTTGT CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAActagttcgttgtAGATCGAGACCCGACGC chr20:22526613-Reference-G;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative T caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GAGTCTGGTTAT CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAgagtctggttatAGATCGAGACCCGACGC chr20:22526613-Alternative-T;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative C caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt ACTTCGATGCCG CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcCcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAacttcgatgccgAGATCGAGACCCGACGC chr20:22526613-Alternative-C;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Alternative T caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt AGTTGGCGTCGA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcTcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAagttggcgtcgaAGATCGAGACCCGACGC chr20:22526613-Alternative-T;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Reference G caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GGTTAACCAAGA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAggttaaccaagaAGATCGAGACCCGACGC chr20:22526613-Reference-G;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Reference G caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt ACAAGTCGATGA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAacaagtcgatgaAGATCGAGACCCGACGC chr20:22526613-Reference-G;Patient-37 chr20:22526613-GA DeNovo Patient-37 intergenic 0.00032 0.000513 -0.14 1.04 0.22 FOXA2 39487 Reference G caggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaatt GAATCGCGCTGA CGACGCGGTCTCTCTCTcaggagaatcactggaactcgggaggtggaggttacagtgaactgagatcGcgccattgcactccagcctggatgacaagagtgaaactccatctcaattAGAGGGAGACGGACGTCTCAATAAgaatcgcgctgaAGATCGAGACCCGACGC chr20:22526613-Reference-G;Patient-37 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Variant C agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac AGTTCCGCTTAT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAagttccgcttatAGATCGAGACCCGACGC chr20:22931505-Variant-C;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Variant C agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CAACCAGCCGAT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAcaaccagccgatAGATCGAGACCCGACGC chr20:22931505-Variant-C;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Variant C agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac AGCTTCGCGGTT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAagcttcgcggttAGATCGAGACCCGACGC chr20:22931505-Variant-C;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Variant C agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac AACCGGTCATAT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAaaccggtcatatAGATCGAGACCCGACGC chr20:22931505-Variant-C;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Variant C agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac GTCAGTAAGTCA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaCacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAgtcagtaagtcaAGATCGAGACCCGACGC chr20:22931505-Variant-C;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative A agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CTAATCCGCGCT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAActaatccgcgctAGATCGAGACCCGACGC chr20:22931505-Alternative-A;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative G agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac GACCATACAGAA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAgaccatacagaaAGATCGAGACCCGACGC chr20:22931505-Alternative-G;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative G agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac GGTATCAGGCCA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAggtatcaggccaAGATCGAGACCCGACGC chr20:22931505-Alternative-G;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative A agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac AGGACCACACCA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAaggaccacaccaAGATCGAGACCCGACGC chr20:22931505-Alternative-A;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative A agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CGTGACGTGCTA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAcgtgacgtgctaAGATCGAGACCCGACGC chr20:22931505-Alternative-A;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative A agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac AATGCGGTTCAA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAaatgcggttcaaAGATCGAGACCCGACGC chr20:22931505-Alternative-A;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative G agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CTGAGCGACCAT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAActgagcgaccatAGATCGAGACCCGACGC chr20:22931505-Alternative-G;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative G agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac ACGCAGCAGCTT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAacgcagcagcttAGATCGAGACCCGACGC chr20:22931505-Alternative-G;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative G agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CGTTGCATTCTA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaGacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAcgttgcattctaAGATCGAGACCCGACGC chr20:22931505-Alternative-G;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Reference T agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac GCGCGATAGGTT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAgcgcgataggttAGATCGAGACCCGACGC chr20:22931505-Reference-T;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Reference T agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CTGTGTGGCGTT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAActgtgtggcgttAGATCGAGACCCGACGC chr20:22931505-Reference-T;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Reference T agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CTCTCGTTAACA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAActctcgttaacaAGATCGAGACCCGACGC chr20:22931505-Reference-T;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Reference T agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CAGCTATGCTAA CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAcagctatgctaaAGATCGAGACCCGACGC chr20:22931505-Reference-T;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Reference T agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CTTGCGAATATC CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaTacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAActtgcgaatatcAGATCGAGACCCGACGC chr20:22931505-Reference-T;Patient-21 chr20:22931505-TC Inherited Patient-21 intergenic NA 0.000513 -0.17 0.88 -0.73 SSTR4 84551 Alternative A agcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaac CGTCACTTAAGT CGACGCGGTCTCTCTCTagcttaataaaataaatatatccaagtccatgaggacaaagtgattgaaaAacttagcgttcaggattgtccaaaagacctttctgtgctaatatgcaacAGAGGGAGACGGACGTCTCAATAAcgtcacttaagtAGATCGAGACCCGACGC chr20:22931505-Alternative-A;Patient-21 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Reference C tgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaattt CGCGCGAGTAAT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAcgcgcgagtaatAGATCGAGACCCGACGC chr20:23659210-Reference-C;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative G tgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GATGGAGCAGTC CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgatggagcagtcAGATCGAGACCCGACGC chr20:23659210-Alternative-G;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative G tgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaattt ATTGACCGAACC CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAattgaccgaaccAGATCGAGACCCGACGC chr20:23659210-Alternative-G;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative G tgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaattt AATGATGGCACA CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAaatgatggcacaAGATCGAGACCCGACGC chr20:23659210-Alternative-G;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative G tgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaattt ATTACGAACGCT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAattacgaacgctAGATCGAGACCCGACGC chr20:23659210-Alternative-G;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative G tgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaattt CATGCGTAACTA CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttGtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAcatgcgtaactaAGATCGAGACCCGACGC chr20:23659210-Alternative-G;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Variant A tgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GCAGAAGCGGAT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgcagaagcggatAGATCGAGACCCGACGC chr20:23659210-Variant-A;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Variant A tgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GGCGAAGTCTAT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAggcgaagtctatAGATCGAGACCCGACGC chr20:23659210-Variant-A;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative T tgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaattt ATCTGCGATGAA CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAatctgcgatgaaAGATCGAGACCCGACGC chr20:23659210-Alternative-T;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Variant A tgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GGAACTCAACTT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAggaactcaacttAGATCGAGACCCGACGC chr20:23659210-Variant-A;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Variant A tgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GTATTCGACGAT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgtattcgacgatAGATCGAGACCCGACGC chr20:23659210-Variant-A;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative T tgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaattt CTATACCGCACG CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAActataccgcacgAGATCGAGACCCGACGC chr20:23659210-Alternative-T;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Variant A tgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaattt CGCACCGAAGTT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttAtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAcgcaccgaagttAGATCGAGACCCGACGC chr20:23659210-Variant-A;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Reference C tgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GGTCGAAGACCA CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAggtcgaagaccaAGATCGAGACCCGACGC chr20:23659210-Reference-C;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Reference C tgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GTTCACGCTAGG CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgttcacgctaggAGATCGAGACCCGACGC chr20:23659210-Reference-C;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative T tgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaattt AGATGTATCGCT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAagatgtatcgctAGATCGAGACCCGACGC chr20:23659210-Alternative-T;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Reference C tgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GCACGACTTAGT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgcacgacttagtAGATCGAGACCCGACGC chr20:23659210-Reference-C;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative T tgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GTGTTGGACGAG CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgtgttggacgagAGATCGAGACCCGACGC chr20:23659210-Alternative-T;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Reference C tgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaattt GTTAAGTAGTGG CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttCtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAgttaagtagtggAGATCGAGACCCGACGC chr20:23659210-Reference-C;Patient-89 chr20:23659210-CA Inherited Patient-89 intergenic 0.00083 0.00103 0.18 5.57 0 CST4 10451 Alternative T tgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaattt CGATACCAACGT CGACGCGGTCTCTCTCTtgactgggttaatttcaaagacctactttccacatctgaaataatttcttTtgctttggtcaagcctactattgatacttttaactggatttcaaaatttAGAGGGAGACGGACGTCTCAATAAcgataccaacgtAGATCGAGACCCGACGC chr20:23659210-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative T aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatag CGTCCTTCGCTT CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAcgtccttcgcttAGATCGAGACCCGACGC chr20:23734874-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative T aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatag CTAAGAGTACGA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAActaagagtacgaAGATCGAGACCCGACGC chr20:23734874-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative T aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatag ACGAAGCAAGAA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAacgaagcaagaaAGATCGAGACCCGACGC chr20:23734874-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative A aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatag CTGAGATATCCA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAActgagatatccaAGATCGAGACCCGACGC chr20:23734874-Alternative-A;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative T aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatag GGTACGTGGCTT CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAggtacgtggcttAGATCGAGACCCGACGC chr20:23734874-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative A aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatag AAGATGACGACT CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAaagatgacgactAGATCGAGACCCGACGC chr20:23734874-Alternative-A;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative A aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatag ACGTTATCCGCA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAacgttatccgcaAGATCGAGACCCGACGC chr20:23734874-Alternative-A;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative A aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatag CACGCTAACGAG CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAcacgctaacgagAGATCGAGACCCGACGC chr20:23734874-Alternative-A;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Reference G aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatag GAAGTTAGGCGC CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgaagttaggcgcAGATCGAGACCCGACGC chr20:23734874-Reference-G;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative A aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatag GCGCATTAGTCG CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctAatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgcgcattagtcgAGATCGAGACCCGACGC chr20:23734874-Alternative-A;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Alternative T aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatag ACTTAGTCGTGC CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctTatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAacttagtcgtgcAGATCGAGACCCGACGC chr20:23734874-Alternative-T;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Reference G aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatag GCGTAACGTACC CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgcgtaacgtaccAGATCGAGACCCGACGC chr20:23734874-Reference-G;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Reference G aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatag ATCTGGTCCTAA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAatctggtcctaaAGATCGAGACCCGACGC chr20:23734874-Reference-G;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Reference G aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatag GCGGTTGCTAGA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgcggttgctagaAGATCGAGACCCGACGC chr20:23734874-Reference-G;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Reference G aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatag CTGGCACAATCA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctGatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAActggcacaatcaAGATCGAGACCCGACGC chr20:23734874-Reference-G;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Variant C aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatag GACATCACTTGA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgacatcacttgaAGATCGAGACCCGACGC chr20:23734874-Variant-C;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Variant C aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatag GAATAATGCCGT CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgaataatgccgtAGATCGAGACCCGACGC chr20:23734874-Variant-C;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Variant C aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatag GCCGAAGTACCA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgccgaagtaccaAGATCGAGACCCGACGC chr20:23734874-Variant-C;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Variant C aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatag GCGACCATATCA CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAgcgaccatatcaAGATCGAGACCCGACGC chr20:23734874-Variant-C;Patient-89 chr20:23734874-GC Inherited Patient-89 intergenic 3.2e-05 0.000513 0.07 3.73 0.58 CST4 65211 Variant C aacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatag CGGTATCGCAAG CGACGCGGTCTCTCTCTaacacagtgaaacacccatctaaaaaaaatggcagaacactttgttccctCatttctatagtccacagttttaaggacacactagaagagggccagatagAGAGGGAGACGGACGTCTCAATAAcggtatcgcaagAGATCGAGACCCGACGC chr20:23734874-Variant-C;Patient-89 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative G tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc ACGTAGAGTCAA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAacgtagagtcaaAGATCGAGACCCGACGC chr20:24873953-Alternative-G;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative G tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CACAGATGTGTT CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcacagatgtgttAGATCGAGACCCGACGC chr20:24873953-Alternative-G;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Variant T tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc AACAGCGTTCTT CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAaacagcgttcttAGATCGAGACCCGACGC chr20:24873953-Variant-T;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative G tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CGGAACTATGAA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcggaactatgaaAGATCGAGACCCGACGC chr20:24873953-Alternative-G;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Variant T tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GACTGTCGTGCA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAgactgtcgtgcaAGATCGAGACCCGACGC chr20:24873953-Variant-T;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Variant T tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc AACCACGTATGG CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAaaccacgtatggAGATCGAGACCCGACGC chr20:24873953-Variant-T;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative G tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CACGAACGATGC CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcacgaacgatgcAGATCGAGACCCGACGC chr20:24873953-Alternative-G;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative G tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GTTCGCACCATC CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatGttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAgttcgcaccatcAGATCGAGACCCGACGC chr20:24873953-Alternative-G;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Variant T tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc AGAGTAACGGAA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAagagtaacggaaAGATCGAGACCCGACGC chr20:24873953-Variant-T;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Variant T tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CATCGGTGTCGA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatTttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcatcggtgtcgaAGATCGAGACCCGACGC chr20:24873953-Variant-T;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Reference C tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CAACGGCTCGAA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcaacggctcgaaAGATCGAGACCCGACGC chr20:24873953-Reference-C;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative A tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GGTGTCTCTTCG CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAggtgtctcttcgAGATCGAGACCCGACGC chr20:24873953-Alternative-A;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Reference C tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc ATTCGGCTGTGG CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAattcggctgtggAGATCGAGACCCGACGC chr20:24873953-Reference-C;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative A tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc ACGCAGCTGGAA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAacgcagctggaaAGATCGAGACCCGACGC chr20:24873953-Alternative-A;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Reference C tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc CGCCGTTATGAG CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAcgccgttatgagAGATCGAGACCCGACGC chr20:24873953-Reference-C;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative A tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GACTAGGCGGTT CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAgactaggcggttAGATCGAGACCCGACGC chr20:24873953-Alternative-A;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Reference C tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GGTGTAACGGCA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAggtgtaacggcaAGATCGAGACCCGACGC chr20:24873953-Reference-C;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative A tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc AGGTTGATGCTT CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAaggttgatgcttAGATCGAGACCCGACGC chr20:24873953-Alternative-A;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Alternative A tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc GGACGTTAACCA CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatAttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAggacgttaaccaAGATCGAGACCCGACGC chr20:24873953-Alternative-A;Patient-91 chr20:24873953-CT Inherited Patient-91 intergenic NA 0.000513 0 2.62 0.52 CST7 55912 Reference C tgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctcccc AGTCCGGTCTAC CGACGCGGTCTCTCTCTtgggcgagaaatgggggaggacccagcaaggcacaggaactggatggcatCttatagcatggaagatcacggcatttcctccactgtgtggcagctccccAGAGGGAGACGGACGTCTCAATAAagtccggtctacAGATCGAGACCCGACGC chr20:24873953-Reference-C;Patient-91 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Variant T gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACGACTGCGAGA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAacgactgcgagaAGATCGAGACCCGACGC chr20:25200810-Variant-T;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative A gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg AGGACAGCACAC CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAaggacagcacacAGATCGAGACCCGACGC chr20:25200810-Alternative-A;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative A gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg AGATATCCTGGT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAagatatcctggtAGATCGAGACCCGACGC chr20:25200810-Alternative-A;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Variant T gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACCATTGTAACG CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAaccattgtaacgAGATCGAGACCCGACGC chr20:25200810-Variant-T;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative G gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACGTACCTTAAC CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAacgtaccttaacAGATCGAGACCCGACGC chr20:25200810-Alternative-G;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative G gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GGTGAATACGAT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAggtgaatacgatAGATCGAGACCCGACGC chr20:25200810-Alternative-G;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Variant T gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACGCTTGAGTTA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAacgcttgagttaAGATCGAGACCCGACGC chr20:25200810-Variant-T;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative A gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACGACACTTCTT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAacgacacttcttAGATCGAGACCCGACGC chr20:25200810-Alternative-A;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Variant T gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GAGACTCGACCT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgagactcgacctAGATCGAGACCCGACGC chr20:25200810-Variant-T;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative G gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GTAACGAGAACT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgtaacgagaactAGATCGAGACCCGACGC chr20:25200810-Alternative-G;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative G gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GCGAACACACGT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgcgaacacacgtAGATCGAGACCCGACGC chr20:25200810-Alternative-G;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative A gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg AGAATCTCGTGG CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAagaatctcgtggAGATCGAGACCCGACGC chr20:25200810-Alternative-A;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Variant T gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg CAAGTTCACGAT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgTgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAcaagttcacgatAGATCGAGACCCGACGC chr20:25200810-Variant-T;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative A gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GATTGATTAGCG CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgAgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgattgattagcgAGATCGAGACCCGACGC chr20:25200810-Alternative-A;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Reference C gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GCATTCGGCACA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgcattcggcacaAGATCGAGACCCGACGC chr20:25200810-Reference-C;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Reference C gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ACGAGCCTTGGT CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAacgagccttggtAGATCGAGACCCGACGC chr20:25200810-Reference-C;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Reference C gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg GACCTCTATCTA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAgacctctatctaAGATCGAGACCCGACGC chr20:25200810-Reference-C;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Reference C gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg CGAATTACGGAG CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAcgaattacggagAGATCGAGACCCGACGC chr20:25200810-Reference-C;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Alternative G gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg ATCGCGAGTCGA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgGgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAatcgcgagtcgaAGATCGAGACCCGACGC chr20:25200810-Alternative-G;Patient-84 chr20:25200810-CT DeNovo Patient-84 intronic ENTPD6 NA 4.95e-05 -0.05 1.94 -0.76 ENTPD6 24480 Reference C gggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcgg CGGCTAGTGCTA CGACGCGGTCTCTCTCTgggctgtgaggacccaggagaatgagtctctgttttgttaccggttattgCgtaacagaccccccaagtagagtgaaagaacagcaaacagcagtcgcggAGAGGGAGACGGACGTCTCAATAAcggctagtgctaAGATCGAGACCCGACGC chr20:25200810-Reference-C;Patient-84 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Variant A gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CATTACGTGTTC CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAcattacgtgttcAGATCGAGACCCGACGC chr20:25203152-Variant-A;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative T gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CTGTGCACACCT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAActgtgcacacctAGATCGAGACCCGACGC chr20:25203152-Alternative-T;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative T gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag ACAATAGGCTGA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAacaataggctgaAGATCGAGACCCGACGC chr20:25203152-Alternative-T;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Variant A gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CTGCGACCTGTT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAActgcgacctgttAGATCGAGACCCGACGC chr20:25203152-Variant-A;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative T gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag ACGCTACATACT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAacgctacatactAGATCGAGACCCGACGC chr20:25203152-Alternative-T;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative T gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag ACTAGCGACAGT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAactagcgacagtAGATCGAGACCCGACGC chr20:25203152-Alternative-T;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Reference G gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag AAGATGCTACGA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAaagatgctacgaAGATCGAGACCCGACGC chr20:25203152-Reference-G;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Reference G gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GTACCACAAGCG CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgtaccacaagcgAGATCGAGACCCGACGC chr20:25203152-Reference-G;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative T gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag ATTGCGACCAGT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatTtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAattgcgaccagtAGATCGAGACCCGACGC chr20:25203152-Alternative-T;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Reference G gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CTAGACAACGGC CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAActagacaacggcAGATCGAGACCCGACGC chr20:25203152-Reference-G;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Reference G gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GATCGTTCTGAA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgatcgttctgaaAGATCGAGACCCGACGC chr20:25203152-Reference-G;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Variant A gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GCGGATATAGCG CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgcggatatagcgAGATCGAGACCCGACGC chr20:25203152-Variant-A;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Variant A gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CAAGGTTACACT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAcaaggttacactAGATCGAGACCCGACGC chr20:25203152-Variant-A;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Reference G gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GTTATGAACGAG CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatGtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgttatgaacgagAGATCGAGACCCGACGC chr20:25203152-Reference-G;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Variant A gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag AACTTGCGTGAA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatAtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAaacttgcgtgaaAGATCGAGACCCGACGC chr20:25203152-Variant-A;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative C gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GTTGAACGTCGC CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgttgaacgtcgcAGATCGAGACCCGACGC chr20:25203152-Alternative-C;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative C gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CGCCTCGTATCA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAcgcctcgtatcaAGATCGAGACCCGACGC chr20:25203152-Alternative-C;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative C gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CAACTGGCGGTT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAcaactggcggttAGATCGAGACCCGACGC chr20:25203152-Alternative-C;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative C gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag CGCTAAGGTCGT CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAcgctaaggtcgtAGATCGAGACCCGACGC chr20:25203152-Alternative-C;Patient-89 chr20:25203152-GA Inherited Patient-89 intronic ENTPD6 6.4e-05 9.9e-05 -0.13 1.12 -0.84 ENTPD6 26822 Alternative C gggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcag GCGGACGTAACA CGACGCGGTCTCTCTCTgggtgcaggccccctgaggaggtgggactccgggctggcggagggggaatCtagggcagatggtcccaacaggccagaggccactggtgtcaggcatcagAGAGGGAGACGGACGTCTCAATAAgcggacgtaacaAGATCGAGACCCGACGC chr20:25203152-Alternative-C;Patient-89 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Reference T aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CAGTTAACCTTC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcagttaaccttcAGATCGAGACCCGACGC chr20:25421184-Reference-T;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Variant A aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ATTACTCATCGG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAattactcatcggAGATCGAGACCCGACGC chr20:25421184-Variant-A;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Reference T aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CGGACTGGCATA CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcggactggcataAGATCGAGACCCGACGC chr20:25421184-Reference-T;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Reference T aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ATCTCGCATCGC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAatctcgcatcgcAGATCGAGACCCGACGC chr20:25421184-Reference-T;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Variant A aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ATACGAAGGTCG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAatacgaaggtcgAGATCGAGACCCGACGC chr20:25421184-Variant-A;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Variant A aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag AGCGGAACACAG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAagcggaacacagAGATCGAGACCCGACGC chr20:25421184-Variant-A;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Variant A aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ATCGTAAGCATC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAatcgtaagcatcAGATCGAGACCCGACGC chr20:25421184-Variant-A;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative C aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CTATCGGAACTA CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAActatcggaactaAGATCGAGACCCGACGC chr20:25421184-Alternative-C;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Reference T aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ATTACACCGTCT CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAattacaccgtctAGATCGAGACCCGACGC chr20:25421184-Reference-T;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Reference T aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GTATAGCTAAGG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaTgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgtatagctaaggAGATCGAGACCCGACGC chr20:25421184-Reference-T;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative C aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GCGTGTAAGTAA CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgcgtgtaagtaaAGATCGAGACCCGACGC chr20:25421184-Alternative-C;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Variant A aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CGACAGGTAGGT CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaAgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcgacaggtaggtAGATCGAGACCCGACGC chr20:25421184-Variant-A;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative C aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GACCACAATTGC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgaccacaattgcAGATCGAGACCCGACGC chr20:25421184-Alternative-C;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative C aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ACCACGGTAGAT CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAaccacggtagatAGATCGAGACCCGACGC chr20:25421184-Alternative-C;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative C aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GTTAAGGCCGTC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaCgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgttaaggccgtcAGATCGAGACCCGACGC chr20:25421184-Alternative-C;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative G aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GTACTTGCGGCA CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgtacttgcggcaAGATCGAGACCCGACGC chr20:25421184-Alternative-G;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative G aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CGCGTGACAAGT CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcgcgtgacaagtAGATCGAGACCCGACGC chr20:25421184-Alternative-G;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative G aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag ACGATATCCGCG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAacgatatccgcgAGATCGAGACCCGACGC chr20:25421184-Alternative-G;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative G aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag GATACTTGTACG CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgatacttgtacgAGATCGAGACCCGACGC chr20:25421184-Alternative-G;Patient-32 chr20:25421184-TA DeNovo Patient-32 intronic GINS1 0.000864 0.000148 -0.38 0.22 -1.58 GINS1 32860 Alternative G aaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgag CGTGTGGTGTAC CGACGCGGTCTCTCTCTaaaataaaagtttatttagagaagcaaatgcggccaggcgtggtggctcaGgcctgtaatcccagcactttgggaagcggggacaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcgtgtggtgtacAGATCGAGACCCGACGC chr20:25421184-Alternative-G;Patient-32 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative C cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggaca AACAGGCTGAAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAaacaggctgaatAGATCGAGACCCGACGC chr20:25435756-Alternative-C;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative C cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggaca CTCGTGGTGGAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAActcgtggtggatAGATCGAGACCCGACGC chr20:25435756-Alternative-C;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative C cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggaca GAATGCGATCCA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAgaatgcgatccaAGATCGAGACCCGACGC chr20:25435756-Alternative-C;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative C cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggaca CTAGATCAGTAC CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAActagatcagtacAGATCGAGACCCGACGC chr20:25435756-Alternative-C;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative C cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggaca GCAAGATGCAAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaCctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAgcaagatgcaatAGATCGAGACCCGACGC chr20:25435756-Alternative-C;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Variant A cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggaca AGTAAGCCGCGT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAagtaagccgcgtAGATCGAGACCCGACGC chr20:25435756-Variant-A;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Variant A cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggaca ACCACGTGTAAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAaccacgtgtaatAGATCGAGACCCGACGC chr20:25435756-Variant-A;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative G cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggaca AAGACTGCATGA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAaagactgcatgaAGATCGAGACCCGACGC chr20:25435756-Alternative-G;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative G cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggaca GAGCTCTAACAG CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAgagctctaacagAGATCGAGACCCGACGC chr20:25435756-Alternative-G;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Reference T cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggaca CTGGCATAACGT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAActggcataacgtAGATCGAGACCCGACGC chr20:25435756-Reference-T;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Reference T cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggaca ACGCGTGGCTAA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAacgcgtggctaaAGATCGAGACCCGACGC chr20:25435756-Reference-T;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Variant A cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggaca AGCATATGCGGC CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAagcatatgcggcAGATCGAGACCCGACGC chr20:25435756-Variant-A;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Reference T cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggaca AGTACGGATATC CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAagtacggatatcAGATCGAGACCCGACGC chr20:25435756-Reference-T;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative G cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggaca CGCTAGTACTTA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAcgctagtacttaAGATCGAGACCCGACGC chr20:25435756-Alternative-G;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Reference T cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggaca GGTGCGGTACAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAggtgcggtacatAGATCGAGACCCGACGC chr20:25435756-Reference-T;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Reference T cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggaca CATCATGTCGAA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaTctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAcatcatgtcgaaAGATCGAGACCCGACGC chr20:25435756-Reference-T;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Variant A cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggaca ACACCATCACAT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAacaccatcacatAGATCGAGACCCGACGC chr20:25435756-Variant-A;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Variant A cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggaca GCGTCGTTCCTA CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaActcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAgcgtcgttcctaAGATCGAGACCCGACGC chr20:25435756-Variant-A;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative G cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggaca AGTCAGGTCACT CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAagtcaggtcactAGATCGAGACCCGACGC chr20:25435756-Alternative-G;Patient-79 chr20:25435756-TA DeNovo Patient-79 intronic NINL 0.00051 9.9e-05 -0.13 1.17 -1.79 ABHD12 64137 Alternative G cctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggaca GATCAAGCCAAG CGACGCGGTCTCTCTCTcctggaatgcaccctcctcggagtcccccagacacgaggagatgtgtgcaGctcccacccactgagccttccaaatgccacctggcctctgctggggacaAGAGGGAGACGGACGTCTCAATAAgatcaagccaagAGATCGAGACCCGACGC chr20:25435756-Alternative-G;Patient-79 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative A actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GGCTTCTGACGA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAggcttctgacgaAGATCGAGACCCGACGC chr20:25621241-Alternative-A;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Reference C actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta AGAATCGACGTT CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAagaatcgacgttAGATCGAGACCCGACGC chr20:25621241-Reference-C;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Reference C actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta AGTTCTGGCCGT CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAagttctggccgtAGATCGAGACCCGACGC chr20:25621241-Reference-C;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Variant T actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CGGAGGTTGTGT CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAcggaggttgtgtAGATCGAGACCCGACGC chr20:25621241-Variant-T;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative A actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GATAGTTCTGCA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAgatagttctgcaAGATCGAGACCCGACGC chr20:25621241-Alternative-A;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative A actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta AACGCTCAACGA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAaacgctcaacgaAGATCGAGACCCGACGC chr20:25621241-Alternative-A;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Reference C actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta AGCTCTCTAGCG CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAagctctctagcgAGATCGAGACCCGACGC chr20:25621241-Reference-C;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative A actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GGTACTAAGAAG CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAggtactaagaagAGATCGAGACCCGACGC chr20:25621241-Alternative-A;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Variant T actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CTTAGATGGAGT CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAActtagatggagtAGATCGAGACCCGACGC chr20:25621241-Variant-T;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Reference C actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GACGTATGACCA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAgacgtatgaccaAGATCGAGACCCGACGC chr20:25621241-Reference-C;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative A actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta AACAACCTACAC CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaAtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAaacaacctacacAGATCGAGACCCGACGC chr20:25621241-Alternative-A;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Reference C actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CATAGCTTCGAA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaCtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAcatagcttcgaaAGATCGAGACCCGACGC chr20:25621241-Reference-C;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Variant T actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta ACGGTCAGGTAC CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAacggtcaggtacAGATCGAGACCCGACGC chr20:25621241-Variant-T;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Variant T actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GGTAAGGTTGCG CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAggtaaggttgcgAGATCGAGACCCGACGC chr20:25621241-Variant-T;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative G actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CTCATCGTTGAT CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAActcatcgttgatAGATCGAGACCCGACGC chr20:25621241-Alternative-G;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Variant T actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CACGAGATGACC CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaTtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAcacgagatgaccAGATCGAGACCCGACGC chr20:25621241-Variant-T;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative G actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CGGAACAACCGA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAcggaacaaccgaAGATCGAGACCCGACGC chr20:25621241-Alternative-G;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative G actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta GCAACGTAAGAA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAgcaacgtaagaaAGATCGAGACCCGACGC chr20:25621241-Alternative-G;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative G actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CTAATCTCAAGG CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAActaatctcaaggAGATCGAGACCCGACGC chr20:25621241-Alternative-G;Patient-87 chr20:25621241-CT Inherited Patient-87 intergenic 0.000191 0.000513 0.05 3.49 0 NANP 16592 Alternative G actatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgccta CGATCCGTTCGA CGACGCGGTCTCTCTCTactatgggagaaacttagtttatagtttagctttgaagcaaagacagtaaGtgtcctttcccaaacaaacctccttattgtttgtggactcaattgcctaAGAGGGAGACGGACGTCTCAATAAcgatccgttcgaAGATCGAGACCCGACGC chr20:25621241-Alternative-G;Patient-87 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative G gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GTCGATACACGA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgtcgatacacgaAGATCGAGACCCGACGC chr20:275194-Alternative-G;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative G gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTGTCGACTTCG CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActgtcgacttcgAGATCGAGACCCGACGC chr20:275194-Alternative-G;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative G gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CATCGTCGTCGT CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAcatcgtcgtcgtAGATCGAGACCCGACGC chr20:275194-Alternative-G;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Variant T gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTCGCCAATTAA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActcgccaattaaAGATCGAGACCCGACGC chr20:275194-Variant-T;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative G gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GTTAGGACGTAA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgttaggacgtaaAGATCGAGACCCGACGC chr20:275194-Alternative-G;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative A gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GTTCCGTATTGA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgttccgtattgaAGATCGAGACCCGACGC chr20:275194-Alternative-A;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Variant T gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GAATGTGCGGAG CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgaatgtgcggagAGATCGAGACCCGACGC chr20:275194-Variant-T;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative A gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTGGTCCTATTA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActggtcctattaAGATCGAGACCCGACGC chr20:275194-Alternative-A;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative A gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTTGATAAGCGT CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActtgataagcgtAGATCGAGACCCGACGC chr20:275194-Alternative-A;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Reference C gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GACAAGCGGTAA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgacaagcggtaaAGATCGAGACCCGACGC chr20:275194-Reference-C;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Variant T gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CAACGGTGGTCT CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAcaacggtggtctAGATCGAGACCCGACGC chr20:275194-Variant-T;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Reference C gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc GATGCTAATTCG CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAgatgctaattcgAGATCGAGACCCGACGC chr20:275194-Reference-C;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative A gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc AGCTGGTTCGGT CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAagctggttcggtAGATCGAGACCCGACGC chr20:275194-Alternative-A;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Variant T gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTCTCAACCAAC CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActctcaaccaacAGATCGAGACCCGACGC chr20:275194-Variant-T;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Variant T gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc ACGTATCCGACG CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaTgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAacgtatccgacgAGATCGAGACCCGACGC chr20:275194-Variant-T;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative G gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CAGCAGTCGGAA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaGgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAcagcagtcggaaAGATCGAGACCCGACGC chr20:275194-Alternative-G;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Alternative A gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc ACCATGTCAACA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaAgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAaccatgtcaacaAGATCGAGACCCGACGC chr20:275194-Alternative-A;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Reference C gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc ATAGGCACGATA CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAataggcacgataAGATCGAGACCCGACGC chr20:275194-Reference-C;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Reference C gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc CTTAGTTGAACC CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAActtagttgaaccAGATCGAGACCCGACGC chr20:275194-Reference-C;Patient-37 chr20:275194-CT DeNovo Patient-37 intergenic 0.000191 0.000513 -0.14 1.04 0.13 TRIB3 86113 Reference C gatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagc AGACTGCGTGGT CGACGCGGTCTCTCTCTgatggggtccatttgcacttacacctgttcaggtggcatttctgtgttcaCgaacacctgatggaacttcctgcccccaggataggtgggcaagatgagcAGAGGGAGACGGACGTCTCAATAAagactgcgtggtAGATCGAGACCCGACGC chr20:275194-Reference-C;Patient-37 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative C tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg AGCTCGTATTGA CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAagctcgtattgaAGATCGAGACCCGACGC chr20:2950337-Alternative-C;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative C tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GTGTTCCATCTA CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAgtgttccatctaAGATCGAGACCCGACGC chr20:2950337-Alternative-C;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Variant T tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg AATAGTGGAGCT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAaatagtggagctAGATCGAGACCCGACGC chr20:2950337-Variant-T;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Variant T tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GGAGTTCTGCCA CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAggagttctgccaAGATCGAGACCCGACGC chr20:2950337-Variant-T;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Variant T tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CACATAGACCAT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAcacatagaccatAGATCGAGACCCGACGC chr20:2950337-Variant-T;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Variant T tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg AGCAAGCTCAGT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAagcaagctcagtAGATCGAGACCCGACGC chr20:2950337-Variant-T;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Reference G tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CGTACTGCTATT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAcgtactgctattAGATCGAGACCCGACGC chr20:2950337-Reference-G;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative C tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg AACACCATGCTA CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAaacaccatgctaAGATCGAGACCCGACGC chr20:2950337-Alternative-C;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Reference G tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg ATCGCATCCGCT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAatcgcatccgctAGATCGAGACCCGACGC chr20:2950337-Reference-G;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Reference G tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg ATCTTACCTACC CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAatcttacctaccAGATCGAGACCCGACGC chr20:2950337-Reference-G;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Reference G tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GTAATCATCACG CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAgtaatcatcacgAGATCGAGACCCGACGC chr20:2950337-Reference-G;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Reference G tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CTTAGGCTAACT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggGcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAActtaggctaactAGATCGAGACCCGACGC chr20:2950337-Reference-G;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Variant T tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CTATGCGTACAG CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggTcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAActatgcgtacagAGATCGAGACCCGACGC chr20:2950337-Variant-T;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative C tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CTTAGGCTCCGT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAActtaggctccgtAGATCGAGACCCGACGC chr20:2950337-Alternative-C;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative A tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg AATCTGGAGACA CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAaatctggagacaAGATCGAGACCCGACGC chr20:2950337-Alternative-A;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative A tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GATCCTTGGTGG CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAgatccttggtggAGATCGAGACCCGACGC chr20:2950337-Alternative-A;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative A tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg CAAGTCTCGTGC CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAcaagtctcgtgcAGATCGAGACCCGACGC chr20:2950337-Alternative-A;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative A tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GATATTGCAGTC CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAgatattgcagtcAGATCGAGACCCGACGC chr20:2950337-Alternative-A;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative A tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg GATCGGTGTCGT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggAcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAgatcggtgtcgtAGATCGAGACCCGACGC chr20:2950337-Alternative-A;Patient-81 chr20:2950337-GT DeNovo Patient-81 intronic PTPRA 0.00077 0.0096 -0.25 0.52 0 MRPS26 76337 Alternative C tcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcggg ATCGCGGCATGT CGACGCGGTCTCTCTCTtcaggagatcaagaccctcctggctaacatggtgtaaataaataggccggCcgcggcggctcatgcctgtaatcccagcactttgggaggctgaggcgggAGAGGGAGACGGACGTCTCAATAAatcgcggcatgtAGATCGAGACCCGACGC chr20:2950337-Alternative-C;Patient-81 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Variant G aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GGTGGACAACAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAggtggacaacacAGATCGAGACCCGACGC chr20:30163902-Variant-G;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Variant G aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt AGATAAGGCGAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAagataaggcgaaAGATCGAGACCCGACGC chr20:30163902-Variant-G;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Variant G aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt AGCATCGCAGTC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAagcatcgcagtcAGATCGAGACCCGACGC chr20:30163902-Variant-G;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Variant G aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt AGATGGACGTAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAagatggacgtaaAGATCGAGACCCGACGC chr20:30163902-Variant-G;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative T aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CGCAAGTGTAAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAcgcaagtgtaatAGATCGAGACCCGACGC chr20:30163902-Alternative-T;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative T aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GCGACGTCGTTA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAgcgacgtcgttaAGATCGAGACCCGACGC chr20:30163902-Alternative-T;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative T aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt AAGATCATGCCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAaagatcatgccaAGATCGAGACCCGACGC chr20:30163902-Alternative-T;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative T aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GTGCGACTAACC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAgtgcgactaaccAGATCGAGACCCGACGC chr20:30163902-Alternative-T;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative A aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CATTATCGACCT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAcattatcgacctAGATCGAGACCCGACGC chr20:30163902-Alternative-A;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Reference C aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt ATTCGGTTGTGA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAattcggttgtgaAGATCGAGACCCGACGC chr20:30163902-Reference-C;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Reference C aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CGCCGGCTATAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAcgccggctataaAGATCGAGACCCGACGC chr20:30163902-Reference-C;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Variant G aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CTCGTCCACTAA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataGcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAActcgtccactaaAGATCGAGACCCGACGC chr20:30163902-Variant-G;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative A aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GACGATGAAGCG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAgacgatgaagcgAGATCGAGACCCGACGC chr20:30163902-Alternative-A;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative A aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt AACTTCACGCCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAaacttcacgccaAGATCGAGACCCGACGC chr20:30163902-Alternative-A;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative A aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GTTAGGCGATAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAgttaggcgatatAGATCGAGACCCGACGC chr20:30163902-Alternative-A;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Reference C aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt GGCAATCATGGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAggcaatcatggtAGATCGAGACCCGACGC chr20:30163902-Reference-C;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Reference C aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CACGACACTTCG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAcacgacacttcgAGATCGAGACCCGACGC chr20:30163902-Reference-C;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative A aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt ACTACCGGCCTT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataAcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAactaccggccttAGATCGAGACCCGACGC chr20:30163902-Alternative-A;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Alternative T aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt CTAATAGCTGAC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataTcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAActaatagctgacAGATCGAGACCCGACGC chr20:30163902-Alternative-T;Patient-35 chr20:30163902-CG DeNovo Patient-35 intergenic NA 0.000513 -0.09 1.47 0.4 COX4I2 61788 Reference C aaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagttt ATCGTGACTTCT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaaattaggctggacacggtggctcacatctgtaataCcagcattttgggatgccgaggtgtgtggattgcttgaggccaggagtttAGAGGGAGACGGACGTCTCAATAAatcgtgacttctAGATCGAGACCCGACGC chr20:30163902-Reference-C;Patient-35 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Variant C tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CAACGCGAATAA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcaacgcgaataaAGATCGAGACCCGACGC chr20:30245764-Variant-C;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Variant C tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CGTCTGTATCGC CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcgtctgtatcgcAGATCGAGACCCGACGC chr20:30245764-Variant-C;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Variant C tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACACTAGCGTAC CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAacactagcgtacAGATCGAGACCCGACGC chr20:30245764-Variant-C;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Variant C tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACTAAGCGGTGG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAactaagcggtggAGATCGAGACCCGACGC chr20:30245764-Variant-C;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Variant C tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg AAGCACGATTGA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacCggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAaagcacgattgaAGATCGAGACCCGACGC chr20:30245764-Variant-C;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Reference A tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg GAGTGCCGAACT CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAgagtgccgaactAGATCGAGACCCGACGC chr20:30245764-Reference-A;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Reference A tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ATCGTAGTTGGT CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAatcgtagttggtAGATCGAGACCCGACGC chr20:30245764-Reference-A;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Reference A tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CTCTAGTAACCA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAActctagtaaccaAGATCGAGACCCGACGC chr20:30245764-Reference-A;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Reference A tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CGGAACTCTTCG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcggaactcttcgAGATCGAGACCCGACGC chr20:30245764-Reference-A;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Reference A tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACCTTGACGTGG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacAggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAaccttgacgtggAGATCGAGACCCGACGC chr20:30245764-Reference-A;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative T tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg AACGACGGTATA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAaacgacggtataAGATCGAGACCCGACGC chr20:30245764-Alternative-T;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative T tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CGTGTAACCAAG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcgtgtaaccaagAGATCGAGACCCGACGC chr20:30245764-Alternative-T;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative T tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACGCTTACGCGA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAacgcttacgcgaAGATCGAGACCCGACGC chr20:30245764-Alternative-T;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative T tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg AATGCACAGACA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAaatgcacagacaAGATCGAGACCCGACGC chr20:30245764-Alternative-T;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative T tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CGGAACAACGTC CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacTggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcggaacaacgtcAGATCGAGACCCGACGC chr20:30245764-Alternative-T;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative G tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg GAGTATCGACCA CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAgagtatcgaccaAGATCGAGACCCGACGC chr20:30245764-Alternative-G;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative G tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg GGTATCTCGACG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAggtatctcgacgAGATCGAGACCCGACGC chr20:30245764-Alternative-G;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative G tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg CGATTAAGCGCG CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAcgattaagcgcgAGATCGAGACCCGACGC chr20:30245764-Alternative-G;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative G tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACCGTATGAATC CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAaccgtatgaatcAGATCGAGACCCGACGC chr20:30245764-Alternative-G;Patient-30 chr20:30245764-AC Inherited Patient-30 intergenic 0.000449 0.000513 NA NA NA BCL2L1 64891 Alternative G tgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttggg ACGAAGAGTGTT CGACGCGGTCTCTCTCTtgaaagctggctaaaaagctttttttttttaaatttaataaatcatgaacGggtgttagctgggcaccgtggctcatgcctgtaaccccagcactttgggAGAGGGAGACGGACGTCTCAATAAacgaagagtgttAGATCGAGACCCGACGC chr20:30245764-Alternative-G;Patient-30 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Variant T aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac ATTGGAACACCG CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAattggaacaccgAGATCGAGACCCGACGC chr20:30391436-Variant-T;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Reference A aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GGTTAACTAGTC CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAggttaactagtcAGATCGAGACCCGACGC chr20:30391436-Reference-A;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Variant T aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac ACGAAGATCGAC CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAacgaagatcgacAGATCGAGACCCGACGC chr20:30391436-Variant-T;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Reference A aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CGTGTAAGGTTC CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAcgtgtaaggttcAGATCGAGACCCGACGC chr20:30391436-Reference-A;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Variant T aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GACGCGCATGAT CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAgacgcgcatgatAGATCGAGACCCGACGC chr20:30391436-Variant-T;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative C aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CACGATAAGACA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAcacgataagacaAGATCGAGACCCGACGC chr20:30391436-Alternative-C;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative C aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CAACATAATCGG CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAcaacataatcggAGATCGAGACCCGACGC chr20:30391436-Alternative-C;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Reference A aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac ACGAGGACCTAA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAacgaggacctaaAGATCGAGACCCGACGC chr20:30391436-Reference-A;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative C aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CGCACGACTATA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAcgcacgactataAGATCGAGACCCGACGC chr20:30391436-Alternative-C;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative C aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac ATAGTGAACGCA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAatagtgaacgcaAGATCGAGACCCGACGC chr20:30391436-Alternative-C;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Reference A aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GATCGTGTTAGT CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAgatcgtgttagtAGATCGAGACCCGACGC chr20:30391436-Reference-A;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Reference A aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CATGACGACGAG CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagAcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAcatgacgacgagAGATCGAGACCCGACGC chr20:30391436-Reference-A;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative G aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GAATCAGGTCGA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAgaatcaggtcgaAGATCGAGACCCGACGC chr20:30391436-Alternative-G;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative C aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GTAGCCAATGGT CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagCcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAgtagccaatggtAGATCGAGACCCGACGC chr20:30391436-Alternative-C;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Variant T aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac AGATACAGAGCG CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAagatacagagcgAGATCGAGACCCGACGC chr20:30391436-Variant-T;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative G aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac AGTACTCCGATA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAagtactccgataAGATCGAGACCCGACGC chr20:30391436-Alternative-G;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative G aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac AGAATTGACCGA CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAagaattgaccgaAGATCGAGACCCGACGC chr20:30391436-Alternative-G;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Variant T aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac GGAGATATACGC CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagTcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAggagatatacgcAGATCGAGACCCGACGC chr20:30391436-Variant-T;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative G aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac CTGGCATGTAAG CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAActggcatgtaagAGATCGAGACCCGACGC chr20:30391436-Alternative-G;Patient-24 chr20:30391436-AT DeNovo Patient-24 intergenic NA 0.000513 0.86 12.33 3.33 BCL2L1 80779 Alternative G aaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgac AAGGTACGCGTT CGACGCGGTCTCTCTCTaaaaaaaagaccttgccttcatggagctaacattttagtaggagagagagGcagtaagcaaataatttaagctcttgtgtaaggtgacagacgtgctgacAGAGGGAGACGGACGTCTCAATAAaaggtacgcgttAGATCGAGACCCGACGC chr20:30391436-Alternative-G;Patient-24 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative C gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaa AAGTGCGATGTT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAaagtgcgatgttAGATCGAGACCCGACGC chr20:30678724-Alternative-C;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative C gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaa GCGGTACAAGTC CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgcggtacaagtcAGATCGAGACCCGACGC chr20:30678724-Alternative-C;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative C gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaa GGAACGTGTCGA CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAggaacgtgtcgaAGATCGAGACCCGACGC chr20:30678724-Alternative-C;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Reference G gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaa GTAACGCCGAAT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgtaacgccgaatAGATCGAGACCCGACGC chr20:30678724-Reference-G;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative C gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaa CGCGTAGTCAGA CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcgcgtagtcagaAGATCGAGACCCGACGC chr20:30678724-Alternative-C;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative C gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaa CGATAATCGTGT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgCgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcgataatcgtgtAGATCGAGACCCGACGC chr20:30678724-Alternative-C;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Reference G gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaa GCATCTACCATT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgcatctaccattAGATCGAGACCCGACGC chr20:30678724-Reference-G;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Reference G gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaa GTTCTGACAGCG CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgttctgacagcgAGATCGAGACCCGACGC chr20:30678724-Reference-G;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Reference G gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaa AGGCTACACGGT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAaggctacacggtAGATCGAGACCCGACGC chr20:30678724-Reference-G;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative T gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaa ATCTTGGTAGCA CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAatcttggtagcaAGATCGAGACCCGACGC chr20:30678724-Alternative-T;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Reference G gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaa ACGGCAATAAGT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgGgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAacggcaataagtAGATCGAGACCCGACGC chr20:30678724-Reference-G;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative T gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaa GAGATGAGAGAT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgagatgagagatAGATCGAGACCCGACGC chr20:30678724-Alternative-T;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative T gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaa CGTGTAGTGCAC CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcgtgtagtgcacAGATCGAGACCCGACGC chr20:30678724-Alternative-T;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative T gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaa CATATACCTTCG CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcatataccttcgAGATCGAGACCCGACGC chr20:30678724-Alternative-T;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Variant A gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaa CGGCACGTTAAC CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcggcacgttaacAGATCGAGACCCGACGC chr20:30678724-Variant-A;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Variant A gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaa CATCTCGACGAG CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcatctcgacgagAGATCGAGACCCGACGC chr20:30678724-Variant-A;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Variant A gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaa GCAGTGTGGTCT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgcagtgtggtctAGATCGAGACCCGACGC chr20:30678724-Variant-A;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Variant A gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaa GCAATCCGATGT CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAgcaatccgatgtAGATCGAGACCCGACGC chr20:30678724-Variant-A;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Alternative T gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaa CGCTATTCCTGG CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgTgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAcgctattcctggAGATCGAGACCCGACGC chr20:30678724-Alternative-T;Patient-25 chr20:30678724-GA Inherited Patient-25 intronic HCK NA 4.95e-05 -0.11 1.28 -0.81 HCK 38732 Variant A gcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaa ATTCCGATATCG CGACGCGGTCTCTCTCTgcaagttgcttaacctctctgagtgccactttcccccactgggagcactgAgagccactctttaaataaatacttaactatgtgccaaacactctactaaAGAGGGAGACGGACGTCTCAATAAattccgatatcgAGATCGAGACCCGACGC chr20:30678724-Variant-A;Patient-25 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Reference G ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ACAAGAGATCGC CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAacaagagatcgcAGATCGAGACCCGACGC chr20:30979976-Reference-G;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Reference G ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GATTGAATGCCT CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAgattgaatgcctAGATCGAGACCCGACGC chr20:30979976-Reference-G;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Reference G ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CGCCGTTGTTCA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcgccgttgttcaAGATCGAGACCCGACGC chr20:30979976-Reference-G;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative A ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GTAACATGTCAC CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAgtaacatgtcacAGATCGAGACCCGACGC chr20:30979976-Alternative-A;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative T ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CGTCTGGTCTGT CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcgtctggtctgtAGATCGAGACCCGACGC chr20:30979976-Alternative-T;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Reference G ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GGATAGCTTCTA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAggatagcttctaAGATCGAGACCCGACGC chr20:30979976-Reference-G;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Variant C ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ACATGCGTCACG CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAacatgcgtcacgAGATCGAGACCCGACGC chr20:30979976-Variant-C;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Variant C ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CTTGGACCGAAG CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAActtggaccgaagAGATCGAGACCCGACGC chr20:30979976-Variant-C;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative T ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GAGCTAACAGCT CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAgagctaacagctAGATCGAGACCCGACGC chr20:30979976-Alternative-T;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Variant C ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CACGTAGGTCGT CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcacgtaggtcgtAGATCGAGACCCGACGC chr20:30979976-Variant-C;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative T ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca AATATGGCCGAT CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAaatatggccgatAGATCGAGACCCGACGC chr20:30979976-Alternative-T;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Variant C ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CGACTTGAATCA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcgacttgaatcaAGATCGAGACCCGACGC chr20:30979976-Variant-C;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative T ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CGTGCTGTACGA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcgtgctgtacgaAGATCGAGACCCGACGC chr20:30979976-Alternative-T;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative A ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ACAGCACGGTAC CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAacagcacggtacAGATCGAGACCCGACGC chr20:30979976-Alternative-A;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Reference G ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ACGTGTGCCGAA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtGgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAacgtgtgccgaaAGATCGAGACCCGACGC chr20:30979976-Reference-G;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative A ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca CAGCATCTGCGA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAcagcatctgcgaAGATCGAGACCCGACGC chr20:30979976-Alternative-A;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Variant C ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GCGGTCGATATC CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtCgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAgcggtcgatatcAGATCGAGACCCGACGC chr20:30979976-Variant-C;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative A ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ACACCGTAGTAC CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAacaccgtagtacAGATCGAGACCCGACGC chr20:30979976-Alternative-A;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative T ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca GTGGCGGTTAGA CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtTgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAgtggcggttagaAGATCGAGACCCGACGC chr20:30979976-Alternative-T;Patient-96 chr20:30979976-GC DeNovo Patient-96 intronic ASXL1 NA 9.8e-05 0.09 4.08 0.15 ASXL1 33828 Alternative A ttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtca ATTGCGGTCACG CGACGCGGTCTCTCTCTttatttttagagccaaggtcttgctgtgccacccaggctggggtgctagtAgcatgatcatggctcactgaagcctctaacttctgggctcaagcagtcaAGAGGGAGACGGACGTCTCAATAAattgcggtcacgAGATCGAGACCCGACGC chr20:30979976-Alternative-A;Patient-96 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative C gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GTCGACTAACCG CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgtcgactaaccgAGATCGAGACCCGACGC chr20:31441064-Alternative-C;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative T gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GGTTGGACCTAA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAggttggacctaaAGATCGAGACCCGACGC chr20:31441064-Alternative-T;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Reference G gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GGACCACAATAA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAggaccacaataaAGATCGAGACCCGACGC chr20:31441064-Reference-G;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative T gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GATCCGAGTTAT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgatccgagttatAGATCGAGACCCGACGC chr20:31441064-Alternative-T;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Reference G gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GAGGTAATGCGG CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgaggtaatgcggAGATCGAGACCCGACGC chr20:31441064-Reference-G;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Variant A gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GACTGTCGGAGA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgactgtcggagaAGATCGAGACCCGACGC chr20:31441064-Variant-A;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative T gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GTGCTAACAGCG CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgtgctaacagcgAGATCGAGACCCGACGC chr20:31441064-Alternative-T;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Variant A gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa ACCGCTTCGACT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAaccgcttcgactAGATCGAGACCCGACGC chr20:31441064-Variant-A;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative T gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa AACAATTGGCGA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAaacaattggcgaAGATCGAGACCCGACGC chr20:31441064-Alternative-T;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Reference G gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa AGTAACCGTACA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAagtaaccgtacaAGATCGAGACCCGACGC chr20:31441064-Reference-G;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative C gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa ATCGGACATAAC CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAatcggacataacAGATCGAGACCCGACGC chr20:31441064-Alternative-C;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative T gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa ATCAACACGTCA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctTcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAatcaacacgtcaAGATCGAGACCCGACGC chr20:31441064-Alternative-T;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative C gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa CTTGCGACAACT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAActtgcgacaactAGATCGAGACCCGACGC chr20:31441064-Alternative-C;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Variant A gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa ACTAGCGTACTT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAactagcgtacttAGATCGAGACCCGACGC chr20:31441064-Variant-A;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative C gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GGAGTTGCTGAG CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAggagttgctgagAGATCGAGACCCGACGC chr20:31441064-Alternative-C;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Alternative C gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GGTCAGGTAACT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctCcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAggtcaggtaactAGATCGAGACCCGACGC chr20:31441064-Alternative-C;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Variant A gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GAGTTACGACCA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgagttacgaccaAGATCGAGACCCGACGC chr20:31441064-Variant-A;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Variant A gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa AGGCTTAGCTAT CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctActtgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAaggcttagctatAGATCGAGACCCGACGC chr20:31441064-Variant-A;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Reference G gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa GTTACAGGCTAA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAgttacaggctaaAGATCGAGACCCGACGC chr20:31441064-Reference-G;Patient-28 chr20:31441064-GA DeNovo Patient-28 intergenic NA 0.000513 -0.06 1.85 0.24 MAPRE1 33364 Reference G gtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaa CGAGGCGATTGA CGACGCGGTCTCTCTCTgtcttggcctcccaaagtgctgggattacaggtgtgagccaccactccctGcttgatatcatacttttggattcacacatttagtttgtaaaatgtcaaaAGAGGGAGACGGACGTCTCAATAAcgaggcgattgaAGATCGAGACCCGACGC chr20:31441064-Reference-G;Patient-28 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Variant A gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt CGTCGTCGATGA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAcgtcgtcgatgaAGATCGAGACCCGACGC chr20:32045223-Variant-A;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Variant A gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GCATCGAATCAA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgcatcgaatcaaAGATCGAGACCCGACGC chr20:32045223-Variant-A;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Variant A gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GACGAGATAAGA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgacgagataagaAGATCGAGACCCGACGC chr20:32045223-Variant-A;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Reference G gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GATTCATGCTGA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgattcatgctgaAGATCGAGACCCGACGC chr20:32045223-Reference-G;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative T gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt AAGACTGGTAAC CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAaagactggtaacAGATCGAGACCCGACGC chr20:32045223-Alternative-T;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Reference G gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt CGCATAGATGTT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAcgcatagatgttAGATCGAGACCCGACGC chr20:32045223-Reference-G;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Reference G gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt ATAGCCGAACGC CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAatagccgaacgcAGATCGAGACCCGACGC chr20:32045223-Reference-G;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Variant A gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GCACCACGTTAT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgcaccacgttatAGATCGAGACCCGACGC chr20:32045223-Variant-A;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Variant A gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GATCACATGCCT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctAcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgatcacatgcctAGATCGAGACCCGACGC chr20:32045223-Variant-A;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Reference G gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GGAACTAGTTCT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAggaactagttctAGATCGAGACCCGACGC chr20:32045223-Reference-G;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative C gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GGAGAATGCCAA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAggagaatgccaaAGATCGAGACCCGACGC chr20:32045223-Alternative-C;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Reference G gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt CGAGTCGATGCT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctGcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAcgagtcgatgctAGATCGAGACCCGACGC chr20:32045223-Reference-G;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative T gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt AGTTCCATACGA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAagttccatacgaAGATCGAGACCCGACGC chr20:32045223-Alternative-T;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative C gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GTTAGAGGCACG CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgttagaggcacgAGATCGAGACCCGACGC chr20:32045223-Alternative-C;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative T gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GTTGAGCCTAAG CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAgttgagcctaagAGATCGAGACCCGACGC chr20:32045223-Alternative-T;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative T gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt ACGCACCAATGT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAacgcaccaatgtAGATCGAGACCCGACGC chr20:32045223-Alternative-T;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative T gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt AGGCGAGTTCGT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctTcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAaggcgagttcgtAGATCGAGACCCGACGC chr20:32045223-Alternative-T;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative C gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt AGGAATTCGTTC CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAaggaattcgttcAGATCGAGACCCGACGC chr20:32045223-Alternative-C;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative C gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt GGTGCGTATCGA CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAggtgcgtatcgaAGATCGAGACCCGACGC chr20:32045223-Alternative-C;Patient-76 chr20:32045223-GA Inherited Patient-76 intergenic NA 0.000513 -0.05 1.98 -0.75 CBFA2T2 32704 Alternative C gggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgt AATGTCGATGCT CGACGCGGTCTCTCTCTgggcagcagagagccagggtcgcaaggtcctagcaggtgccatgagccctCcaagtgggaaggtgggaataggatgggaagctgggctccttgaggttgtAGAGGGAGACGGACGTCTCAATAAaatgtcgatgctAGATCGAGACCCGACGC chr20:32045223-Alternative-C;Patient-76 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative T agtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AATGACCTCGGC CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAaatgacctcggcAGATCGAGACCCGACGC chr20:32108277-Alternative-T;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Reference A agtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc GTGCTCGTTGAG CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAgtgctcgttgagAGATCGAGACCCGACGC chr20:32108277-Reference-A;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Reference A agtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AAGTAGCGCGGT CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAaagtagcgcggtAGATCGAGACCCGACGC chr20:32108277-Reference-A;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative T agtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc CATTAGACTGAC CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAcattagactgacAGATCGAGACCCGACGC chr20:32108277-Alternative-T;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Reference A agtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc ACATCGGACGCA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAacatcggacgcaAGATCGAGACCCGACGC chr20:32108277-Reference-A;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Reference A agtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc CTAATTGTGGAC CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAActaattgtggacAGATCGAGACCCGACGC chr20:32108277-Reference-A;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Reference A agtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AGCTCAGTAGAA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctAttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAagctcagtagaaAGATCGAGACCCGACGC chr20:32108277-Reference-A;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative T agtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc CGTCCTGGTAGA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAcgtcctggtagaAGATCGAGACCCGACGC chr20:32108277-Alternative-T;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative C agtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc CTATGCTGTACT CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAActatgctgtactAGATCGAGACCCGACGC chr20:32108277-Alternative-C;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative C agtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AACCACGTAACA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAaaccacgtaacaAGATCGAGACCCGACGC chr20:32108277-Alternative-C;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative C agtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AACGCGGAGACA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAaacgcggagacaAGATCGAGACCCGACGC chr20:32108277-Alternative-C;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative T agtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc GATTCATCCAGG CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAgattcatccaggAGATCGAGACCCGACGC chr20:32108277-Alternative-T;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative C agtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc ACGTCTAGGTTA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAacgtctaggttaAGATCGAGACCCGACGC chr20:32108277-Alternative-C;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative T agtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc GCCGCTAGGATT CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctTttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAgccgctaggattAGATCGAGACCCGACGC chr20:32108277-Alternative-T;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Alternative C agtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc GCGAGTTCTGCA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctCttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAgcgagttctgcaAGATCGAGACCCGACGC chr20:32108277-Alternative-C;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Variant G agtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc CGGCGTACGAAT CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAcggcgtacgaatAGATCGAGACCCGACGC chr20:32108277-Variant-G;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Variant G agtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc ACTATCGGACTA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAactatcggactaAGATCGAGACCCGACGC chr20:32108277-Variant-G;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Variant G agtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AATAGAGCGTCA CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAaatagagcgtcaAGATCGAGACCCGACGC chr20:32108277-Variant-G;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Variant G agtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc AGAACCAGACGT CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAagaaccagacgtAGATCGAGACCCGACGC chr20:32108277-Variant-G;Patient-37 chr20:32108277-AG Inherited Patient-37 intronic CBFA2T2 6.4e-05 4.95e-05 -0.21 0.66 -1.71 CBFA2T2 30348 Variant G agtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatccc GATACCACAACC CGACGCGGTCTCTCTCTagtcctggggcatctctaacttctaacatatactacttttttgataagctGttgaactgtcctaagtaggccgggtttggtggttcacacctgtaatcccAGAGGGAGACGGACGTCTCAATAAgataccacaaccAGATCGAGACCCGACGC chr20:32108277-Variant-G;Patient-37 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Variant G tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GTCGTTCGGAGT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgtcgttcggagtAGATCGAGACCCGACGC chr20:3226946-Variant-G;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Variant G tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GGTAGCCATTCG CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAggtagccattcgAGATCGAGACCCGACGC chr20:3226946-Variant-G;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Reference T tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg ACTGCGACAACG CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAactgcgacaacgAGATCGAGACCCGACGC chr20:3226946-Reference-T;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative C tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GACATTCTCGTC CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgacattctcgtcAGATCGAGACCCGACGC chr20:3226946-Alternative-C;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Reference T tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GTTGTGTATCCT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgttgtgtatcctAGATCGAGACCCGACGC chr20:3226946-Reference-T;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Variant G tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg AATAAGGCGACT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAaataaggcgactAGATCGAGACCCGACGC chr20:3226946-Variant-G;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative A tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CGTAATTCGCGG CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAcgtaattcgcggAGATCGAGACCCGACGC chr20:3226946-Alternative-A;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative A tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GTCGAGAGTACG CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgtcgagagtacgAGATCGAGACCCGACGC chr20:3226946-Alternative-A;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Variant G tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CGGTCAATGCGA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAcggtcaatgcgaAGATCGAGACCCGACGC chr20:3226946-Variant-G;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Reference T tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GCCGGCGTTAAT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgccggcgttaatAGATCGAGACCCGACGC chr20:3226946-Reference-T;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Reference T tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GACTATTCGAAC CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAgactattcgaacAGATCGAGACCCGACGC chr20:3226946-Reference-T;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative A tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CTTGGACGATTA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAActtggacgattaAGATCGAGACCCGACGC chr20:3226946-Alternative-A;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Reference T tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CGAAGCAAGCTA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttTtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAcgaagcaagctaAGATCGAGACCCGACGC chr20:3226946-Reference-T;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative A tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg ATCGGTTGACCG CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAatcggttgaccgAGATCGAGACCCGACGC chr20:3226946-Alternative-A;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative C tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg AACCGACGTTGT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAaaccgacgttgtAGATCGAGACCCGACGC chr20:3226946-Alternative-C;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative A tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GGTCGTTGTCGA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttAtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAggtcgttgtcgaAGATCGAGACCCGACGC chr20:3226946-Alternative-A;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative C tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CACGGTTCTAGT CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAcacggttctagtAGATCGAGACCCGACGC chr20:3226946-Alternative-C;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Variant G tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg CTGCGCATTCAA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttGtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAActgcgcattcaaAGATCGAGACCCGACGC chr20:3226946-Variant-G;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative C tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg GGTGGTGGAGAA CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAggtggtggagaaAGATCGAGACCCGACGC chr20:3226946-Alternative-C;Patient-92 chr20:3226946-TG DeNovo Patient-92 intergenic 0.000663 0.00923 -0.02 2.33 0 LZTS3 77738 Alternative C tgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtg ACGTTGTCGGAC CGACGCGGTCTCTCTCTtgctgggattacaggtgtgagccaccacctccggcgttttttttttttttCtttttttttttgagatgaaacctcgctctgtcgcccaggctggagtgtgAGAGGGAGACGGACGTCTCAATAAacgttgtcggacAGATCGAGACCCGACGC chr20:3226946-Alternative-C;Patient-92 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative G ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CATCTCATGGTT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAcatctcatggttAGATCGAGACCCGACGC chr20:32287862-Alternative-G;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Reference C ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg GGTCGTATTGAT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAggtcgtattgatAGATCGAGACCCGACGC chr20:32287862-Reference-C;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Reference C ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg AGGTTACTCGAT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAaggttactcgatAGATCGAGACCCGACGC chr20:32287862-Reference-C;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Reference C ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg ATACTTCGTCAC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAatacttcgtcacAGATCGAGACCCGACGC chr20:32287862-Reference-C;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Reference C ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CAGCGAGTCGTT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAcagcgagtcgttAGATCGAGACCCGACGC chr20:32287862-Reference-C;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative G ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg AGTAGTCGTATC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAagtagtcgtatcAGATCGAGACCCGACGC chr20:32287862-Alternative-G;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Variant T ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg AATACATTCGGC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAaatacattcggcAGATCGAGACCCGACGC chr20:32287862-Variant-T;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Variant T ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg ATAGACGCGCGT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAatagacgcgcgtAGATCGAGACCCGACGC chr20:32287862-Variant-T;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Reference C ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg GGTAATCGCTTA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccCggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAggtaatcgcttaAGATCGAGACCCGACGC chr20:32287862-Reference-C;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative A ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CTCGTGTTCGAC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAActcgtgttcgacAGATCGAGACCCGACGC chr20:32287862-Alternative-A;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Variant T ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg ACACACTAGCGT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAacacactagcgtAGATCGAGACCCGACGC chr20:32287862-Variant-T;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative A ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CGTAATCCGATA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAcgtaatccgataAGATCGAGACCCGACGC chr20:32287862-Alternative-A;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative G ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg AGTCTCGTCATA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAagtctcgtcataAGATCGAGACCCGACGC chr20:32287862-Alternative-G;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative G ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CGAGAGTTGCTA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAcgagagttgctaAGATCGAGACCCGACGC chr20:32287862-Alternative-G;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative G ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg GGTTCGGTAGTC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccGggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAggttcggtagtcAGATCGAGACCCGACGC chr20:32287862-Alternative-G;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative A ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CTCTATATAGCG CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAActctatatagcgAGATCGAGACCCGACGC chr20:32287862-Alternative-A;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative A ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg ACGAGCAACAAT CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAacgagcaacaatAGATCGAGACCCGACGC chr20:32287862-Alternative-A;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Variant T ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg CTTGTCAACGAA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAActtgtcaacgaaAGATCGAGACCCGACGC chr20:32287862-Variant-T;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Alternative A ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg AGCGCTAAGATA CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccAggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAagcgctaagataAGATCGAGACCCGACGC chr20:32287862-Alternative-A;Patient-24 chr20:32287862-CT Inherited Patient-24 intergenic 8e-05 0.000513 0.02 2.87 0 PXMP4 20273 Variant T ccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccgg ACACGAAGCATC CGACGCGGTCTCTCTCTccggccagccgccccatccgggagggaggtgggggggtcagccccccgccTggccagccgccccgtccgggagggaggtgggggtcagccccccgcccggAGAGGGAGACGGACGTCTCAATAAacacgaagcatcAGATCGAGACCCGACGC chr20:32287862-Variant-T;Patient-24 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative G ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GCGGCTGAATGA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgcggctgaatgaAGATCGAGACCCGACGC chr20:32787782-Alternative-G;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative G ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GTTCGTTACAAC CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgttcgttacaacAGATCGAGACCCGACGC chr20:32787782-Alternative-G;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative G ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat CTGAACGATAGA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAActgaacgatagaAGATCGAGACCCGACGC chr20:32787782-Alternative-G;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative G ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat CAGGATCGTCGT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAcaggatcgtcgtAGATCGAGACCCGACGC chr20:32787782-Alternative-G;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Variant T ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GGTCGCATCTTA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAggtcgcatcttaAGATCGAGACCCGACGC chr20:32787782-Variant-T;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Variant T ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat AACTCCGTCTAT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAaactccgtctatAGATCGAGACCCGACGC chr20:32787782-Variant-T;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Variant T ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GAGCATAGTTCT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgagcatagttctAGATCGAGACCCGACGC chr20:32787782-Variant-T;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Variant T ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GGTGGTCGTATC CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAggtggtcgtatcAGATCGAGACCCGACGC chr20:32787782-Variant-T;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Variant T ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat CGCTATCTGTCG CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcTtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAcgctatctgtcgAGATCGAGACCCGACGC chr20:32787782-Variant-T;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative A ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat ACGCTCACTCAT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAacgctcactcatAGATCGAGACCCGACGC chr20:32787782-Alternative-A;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative A ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GCGCCAATGTAA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgcgccaatgtaaAGATCGAGACCCGACGC chr20:32787782-Alternative-A;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative G ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GTTCAACCTGAA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcGtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgttcaacctgaaAGATCGAGACCCGACGC chr20:32787782-Alternative-G;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Reference C ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GTGTCGTGGTAA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgtgtcgtggtaaAGATCGAGACCCGACGC chr20:32787782-Reference-C;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative A ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat ACGCTGACGGAA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAacgctgacggaaAGATCGAGACCCGACGC chr20:32787782-Alternative-A;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative A ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat CGAGATCCTGCA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAcgagatcctgcaAGATCGAGACCCGACGC chr20:32787782-Alternative-A;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Reference C ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GTGACTCCGCAT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAgtgactccgcatAGATCGAGACCCGACGC chr20:32787782-Reference-C;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Alternative A ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat AGACTATCATGC CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcAtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAagactatcatgcAGATCGAGACCCGACGC chr20:32787782-Alternative-A;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Reference C ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat GGTCGGCCAATT CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAggtcggccaattAGATCGAGACCCGACGC chr20:32787782-Reference-C;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Reference C ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat AGGTTATGAGCA CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAaggttatgagcaAGATCGAGACCCGACGC chr20:32787782-Reference-C;Patient-25 chr20:32787782-CT Inherited Patient-25 intergenic 0.000255 0.00103 -0.05 1.95 0.45 EIF2S2 87696 Reference C ccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatat AGGTACGCCAAC CGACGCGGTCTCTCTCTccgtaaagaactgtatccaaggcaagagcctcacttgcctcaccccaatcCtggcccatcccattctgtgtcttgcattgtcatgctctttaatatatatAGAGGGAGACGGACGTCTCAATAAaggtacgccaacAGATCGAGACCCGACGC chr20:32787782-Reference-C;Patient-25 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Reference T gtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagta AATAGTCGTCGT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAaatagtcgtcgtAGATCGAGACCCGACGC chr20:32800380-Reference-T;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative G gtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagta CGAATGGTTGAT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcgaatggttgatAGATCGAGACCCGACGC chr20:32800380-Alternative-G;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative G gtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagta AGTGATCACGTT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAagtgatcacgttAGATCGAGACCCGACGC chr20:32800380-Alternative-G;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Reference T gtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagta AGACGTTGCGTC CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAagacgttgcgtcAGATCGAGACCCGACGC chr20:32800380-Reference-T;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative G gtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagta CGTCCAATCGCT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcgtccaatcgctAGATCGAGACCCGACGC chr20:32800380-Alternative-G;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Reference T gtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagta CGACGATTCGTC CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcgacgattcgtcAGATCGAGACCCGACGC chr20:32800380-Reference-T;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative G gtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagta CTAATGATCGAC CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAActaatgatcgacAGATCGAGACCCGACGC chr20:32800380-Alternative-G;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Reference T gtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagta CTGGCGGTTAGT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAActggcggttagtAGATCGAGACCCGACGC chr20:32800380-Reference-T;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative G gtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagta ATACTAGCTCGA CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattGtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAatactagctcgaAGATCGAGACCCGACGC chr20:32800380-Alternative-G;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative A gtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagta CAGGATTGCAAT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcaggattgcaatAGATCGAGACCCGACGC chr20:32800380-Alternative-A;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative A gtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagta CGTAGTTGGTTA CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcgtagttggttaAGATCGAGACCCGACGC chr20:32800380-Alternative-A;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Reference T gtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagta CGTTACACAGCG CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattTtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAcgttacacagcgAGATCGAGACCCGACGC chr20:32800380-Reference-T;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative A gtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagta AGGCGAACTGAG CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAaggcgaactgagAGATCGAGACCCGACGC chr20:32800380-Alternative-A;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative A gtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagta ACGAGCGATCCT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAacgagcgatcctAGATCGAGACCCGACGC chr20:32800380-Alternative-A;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Variant C gtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagta GCGTGCATCCAT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAgcgtgcatccatAGATCGAGACCCGACGC chr20:32800380-Variant-C;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Alternative A gtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagta CTTAGCTGTCAT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattAtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAActtagctgtcatAGATCGAGACCCGACGC chr20:32800380-Alternative-A;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Variant C gtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagta ACCGTACTGAAT CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAaccgtactgaatAGATCGAGACCCGACGC chr20:32800380-Variant-C;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Variant C gtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagta ACGTCCGGTCTA CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAacgtccggtctaAGATCGAGACCCGACGC chr20:32800380-Variant-C;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Variant C gtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagta AGGCTAACAACA CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAaggctaacaacaAGATCGAGACCCGACGC chr20:32800380-Variant-C;Patient-37 chr20:32800380-TC DeNovo Patient-37 intergenic NA 0.000513 0.58 10.14 0 AHCY 99227 Variant C gtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagta AACACAACGAAC CGACGCGGTCTCTCTCTgtatattttaatattgatgcaatacattatctactgtctattttacaattCtaacaattgacccaataatgtcttatatagtatttattttccttcagtaAGAGGGAGACGGACGTCTCAATAAaacacaacgaacAGATCGAGACCCGACGC chr20:32800380-Variant-C;Patient-37 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative T tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc CTTGCGTCATTA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAActtgcgtcattaAGATCGAGACCCGACGC chr20:33324894-Alternative-T;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative A tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GTCAAGATGAGT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAgtcaagatgagtAGATCGAGACCCGACGC chr20:33324894-Alternative-A;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative A tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ATTGCTCGCTTA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAattgctcgcttaAGATCGAGACCCGACGC chr20:33324894-Alternative-A;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative A tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GCGTTAGACATA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAgcgttagacataAGATCGAGACCCGACGC chr20:33324894-Alternative-A;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative A tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc CGTTCGAACGGT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAcgttcgaacggtAGATCGAGACCCGACGC chr20:33324894-Alternative-A;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative A tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ACAGGATAACGT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaAcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAacaggataacgtAGATCGAGACCCGACGC chr20:33324894-Alternative-A;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Variant C tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ACCACATGAATC CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAaccacatgaatcAGATCGAGACCCGACGC chr20:33324894-Variant-C;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Variant C tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GGCTATCGCAGT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAggctatcgcagtAGATCGAGACCCGACGC chr20:33324894-Variant-C;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Variant C tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GGTTCTATGCTA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAggttctatgctaAGATCGAGACCCGACGC chr20:33324894-Variant-C;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative T tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ACTTAGTCGTCA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAacttagtcgtcaAGATCGAGACCCGACGC chr20:33324894-Alternative-T;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Variant C tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ACCTAACCACAG CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAacctaaccacagAGATCGAGACCCGACGC chr20:33324894-Variant-C;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Variant C tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GATCGTGTTCAA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaCcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAgatcgtgttcaaAGATCGAGACCCGACGC chr20:33324894-Variant-C;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Reference G tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc CGCGTACGTTCA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAcgcgtacgttcaAGATCGAGACCCGACGC chr20:33324894-Reference-G;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Reference G tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ACGTTACGTAGT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAacgttacgtagtAGATCGAGACCCGACGC chr20:33324894-Reference-G;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Reference G tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc CAGCGACATCCA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAcagcgacatccaAGATCGAGACCCGACGC chr20:33324894-Reference-G;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative T tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc ATCTCGATGCTT CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAatctcgatgcttAGATCGAGACCCGACGC chr20:33324894-Alternative-T;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Reference G tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GAGCAAGTTAGA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAgagcaagttagaAGATCGAGACCCGACGC chr20:33324894-Reference-G;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative T tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc AGGAACGTCGCA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAaggaacgtcgcaAGATCGAGACCCGACGC chr20:33324894-Alternative-T;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Alternative T tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc GACCGTTGGTAA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaTcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAgaccgttggtaaAGATCGAGACCCGACGC chr20:33324894-Alternative-T;Patient-92 chr20:33324894-GC DeNovo Patient-92 intronic NCOA6 NA 4.95e-05 -0.13 1.18 -5.49 PIGU 59804 Reference G tttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattcc CACGGCTTGTCA CGACGCGGTCTCTCTCTtttctgcttcttggggtcaggtcctgaccactacttgaaaaagccccaaaGcatatcttagtaggcaacccaaaccatagaggtacaattataccattccAGAGGGAGACGGACGTCTCAATAAcacggcttgtcaAGATCGAGACCCGACGC chr20:33324894-Reference-G;Patient-92 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative A aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AACTAATACGCG CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAaactaatacgcgAGATCGAGACCCGACGC chr20:33389818-Alternative-A;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative A aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AATGAGCATGCA CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAaatgagcatgcaAGATCGAGACCCGACGC chr20:33389818-Alternative-A;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative A aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctg CTCATACACCGT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAActcatacaccgtAGATCGAGACCCGACGC chr20:33389818-Alternative-A;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative G aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctg CGAATCGTGATT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAcgaatcgtgattAGATCGAGACCCGACGC chr20:33389818-Alternative-G;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative G aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AGAATCTCGTAC CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAagaatctcgtacAGATCGAGACCCGACGC chr20:33389818-Alternative-G;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative G aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AGCCGCGTTAAG CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAagccgcgttaagAGATCGAGACCCGACGC chr20:33389818-Alternative-G;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative G aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GCGCTACTAATT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgcgctactaattAGATCGAGACCCGACGC chr20:33389818-Alternative-G;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Reference T aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctg ATTCGCCATCAT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAattcgccatcatAGATCGAGACCCGACGC chr20:33389818-Reference-T;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative G aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctg CGTTCTTGTAGT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaGagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAcgttcttgtagtAGATCGAGACCCGACGC chr20:33389818-Alternative-G;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Variant C aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GTCGAATGCCAC CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgtcgaatgccacAGATCGAGACCCGACGC chr20:33389818-Variant-C;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Reference T aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GCAACGAGGTGT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgcaacgaggtgtAGATCGAGACCCGACGC chr20:33389818-Reference-T;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Reference T aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GTTATCGGTACT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgttatcggtactAGATCGAGACCCGACGC chr20:33389818-Reference-T;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Variant C aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GTTGAGCGAATA CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgttgagcgaataAGATCGAGACCCGACGC chr20:33389818-Variant-C;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Reference T aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GTGACGTAATGA CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgtgacgtaatgaAGATCGAGACCCGACGC chr20:33389818-Reference-T;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative A aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AGTTGTTACGGT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAagttgttacggtAGATCGAGACCCGACGC chr20:33389818-Alternative-A;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Variant C aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctg AGCTAACGGTGG CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAagctaacggtggAGATCGAGACCCGACGC chr20:33389818-Variant-C;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Variant C aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GCAGTGCCGATT CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgcagtgccgattAGATCGAGACCCGACGC chr20:33389818-Variant-C;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Reference T aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctg GTGCGGACTACA CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaTagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAgtgcggactacaAGATCGAGACCCGACGC chr20:33389818-Reference-T;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Alternative A aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctg CTCAAGCGAACG CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaAagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAActcaagcgaacgAGATCGAGACCCGACGC chr20:33389818-Alternative-A;Patient-70 chr20:33389818-TC Inherited Patient-70 intronic NCOA6 3.2e-05 0.00016 0.4 8.44 0 NCOA6 23614 Variant C aacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctg CGTTGCTGAATA CGACGCGGTCTCTCTCTaacatttaaggaagaactaattccaatcctactcgacctattccaaaaaaCagtgaagagaatagttccaaactcattctacaaggccaatattaccctgAGAGGGAGACGGACGTCTCAATAAcgttgctgaataAGATCGAGACCCGACGC chr20:33389818-Variant-C;Patient-70 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative G ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc ACGTCTATCCGT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAacgtctatccgtAGATCGAGACCCGACGC chr20:33736111-Alternative-G;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative G ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CGCTATGCGCAT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAcgctatgcgcatAGATCGAGACCCGACGC chr20:33736111-Alternative-G;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative G ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc GTCGCTAGCGTT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAgtcgctagcgttAGATCGAGACCCGACGC chr20:33736111-Alternative-G;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative G ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CTCACGAACATA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAActcacgaacataAGATCGAGACCCGACGC chr20:33736111-Alternative-G;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative A ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc GGTAGATCCATT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAggtagatccattAGATCGAGACCCGACGC chr20:33736111-Alternative-A;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Variant T ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CGTTCGCTTACG CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAcgttcgcttacgAGATCGAGACCCGACGC chr20:33736111-Variant-T;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative G ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc ACGTACTCAACA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaGacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAacgtactcaacaAGATCGAGACCCGACGC chr20:33736111-Alternative-G;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative A ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc ATCGGACTGGCA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAatcggactggcaAGATCGAGACCCGACGC chr20:33736111-Alternative-A;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Variant T ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc AGGCGATAAGCG CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAaggcgataagcgAGATCGAGACCCGACGC chr20:33736111-Variant-T;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Variant T ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CTTAGTGTAACG CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAActtagtgtaacgAGATCGAGACCCGACGC chr20:33736111-Variant-T;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Variant T ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc GTTAGATCACGT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAgttagatcacgtAGATCGAGACCCGACGC chr20:33736111-Variant-T;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative A ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc GCGGTATCCGAA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAgcggtatccgaaAGATCGAGACCCGACGC chr20:33736111-Alternative-A;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Variant T ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CGTAGCGCAAGT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaTacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAcgtagcgcaagtAGATCGAGACCCGACGC chr20:33736111-Variant-T;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative A ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc GAGAGCTAGATA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAgagagctagataAGATCGAGACCCGACGC chr20:33736111-Alternative-A;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Reference C ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CTGAGTGCTAAT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAActgagtgctaatAGATCGAGACCCGACGC chr20:33736111-Reference-C;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Alternative A ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc ATTCCGTGTTGT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaAacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAattccgtgttgtAGATCGAGACCCGACGC chr20:33736111-Alternative-A;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Reference C ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc ATTACTGGCGAT CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAattactggcgatAGATCGAGACCCGACGC chr20:33736111-Reference-C;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Reference C ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc AGTGCTTCGAAC CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAagtgcttcgaacAGATCGAGACCCGACGC chr20:33736111-Reference-C;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Reference C ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc CGAAGATCCGTC CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAcgaagatccgtcAGATCGAGACCCGACGC chr20:33736111-Reference-C;Patient-75 chr20:33736111-CT DeNovo Patient-75 intergenic NA 0.000512821 -0.31 0.33 -6.82 TRPC4AP 55492 Reference C ctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttc AGGAGTAACGCA CGACGCGGTCTCTCTCTctgtcactcttgaggtttcctgaaatcccgtcagttctaggaattcatgaCacttctctcctcccaatttgggatgtggttacacaatcatggtcccttcAGAGGGAGACGGACGTCTCAATAAaggagtaacgcaAGATCGAGACCCGACGC chr20:33736111-Reference-C;Patient-75 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Reference G tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacat ACCTAAGCGTCC CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAacctaagcgtccAGATCGAGACCCGACGC chr20:34003546-Reference-G;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Variant A tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacat CAACGTGTTCGG CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAcaacgtgttcggAGATCGAGACCCGACGC chr20:34003546-Variant-A;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Reference G tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacat ACGAGCTACGCT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAacgagctacgctAGATCGAGACCCGACGC chr20:34003546-Reference-G;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Reference G tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacat CTAAGGATGCGG CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAActaaggatgcggAGATCGAGACCCGACGC chr20:34003546-Reference-G;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Reference G tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacat CAACAACAGCGT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAcaacaacagcgtAGATCGAGACCCGACGC chr20:34003546-Reference-G;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative T tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacat ATAGCGCATCGT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAatagcgcatcgtAGATCGAGACCCGACGC chr20:34003546-Alternative-T;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative T tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacat CTAGGCGCTTGT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAActaggcgcttgtAGATCGAGACCCGACGC chr20:34003546-Alternative-T;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative T tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacat GGTGATCGTCGT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAggtgatcgtcgtAGATCGAGACCCGACGC chr20:34003546-Alternative-T;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative T tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacat GCGGACTTCGTT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAgcggacttcgttAGATCGAGACCCGACGC chr20:34003546-Alternative-T;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Variant A tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacat GATCATGCTACG CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAgatcatgctacgAGATCGAGACCCGACGC chr20:34003546-Variant-A;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative C tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacat CAGGTACGCCAA CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAcaggtacgccaaAGATCGAGACCCGACGC chr20:34003546-Alternative-C;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Variant A tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacat CGAGCTGATCGA CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAcgagctgatcgaAGATCGAGACCCGACGC chr20:34003546-Variant-A;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative T tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacat CGAGGACTTATT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattTtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAcgaggacttattAGATCGAGACCCGACGC chr20:34003546-Alternative-T;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Reference G tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacat GCAATCTGGATT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattGtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAgcaatctggattAGATCGAGACCCGACGC chr20:34003546-Reference-G;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative C tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacat CTTACCAAGTAC CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAActtaccaagtacAGATCGAGACCCGACGC chr20:34003546-Alternative-C;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Variant A tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacat GACCATGGATAA CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAgaccatggataaAGATCGAGACCCGACGC chr20:34003546-Variant-A;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative C tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacat GGATCTGCGCTT CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAggatctgcgcttAGATCGAGACCCGACGC chr20:34003546-Alternative-C;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Variant A tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacat GGTTAGGAACTA CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattAtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAggttaggaactaAGATCGAGACCCGACGC chr20:34003546-Variant-A;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative C tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacat AGAGCAGGCCAA CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAagagcaggccaaAGATCGAGACCCGACGC chr20:34003546-Alternative-C;Patient-110 chr20:34003546-GA Inherited Patient-110 intergenic 6.4e-05 3.98e-05 0.44 8.77 0 GDF5 22480 Alternative C tatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacat GGTGGAACCTTC CGACGCGGTCTCTCTCTtatatccaatagtgagactgctgtatcctatggtggttctgtttttaattCtttgaggaacctccatactgttttctataatgggtgtactaatttacatAGAGGGAGACGGACGTCTCAATAAggtggaaccttcAGATCGAGACCCGACGC chr20:34003546-Alternative-C;Patient-110 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative G ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag AATCGAATGCGT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAaatcgaatgcgtAGATCGAGACCCGACGC chr20:34119137-Alternative-G;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative G ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag GGCTTATGTCTA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAggcttatgtctaAGATCGAGACCCGACGC chr20:34119137-Alternative-G;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Reference T ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag AGATGGAGTGGT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAagatggagtggtAGATCGAGACCCGACGC chr20:34119137-Reference-T;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Reference T ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag ATCGCGACAGCA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAatcgcgacagcaAGATCGAGACCCGACGC chr20:34119137-Reference-T;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative G ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag ACGACCAGATAA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAacgaccagataaAGATCGAGACCCGACGC chr20:34119137-Alternative-G;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Variant A ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CATAGCCGATAA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAcatagccgataaAGATCGAGACCCGACGC chr20:34119137-Variant-A;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative G ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag GCAAGTCGTATT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAgcaagtcgtattAGATCGAGACCCGACGC chr20:34119137-Alternative-G;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Reference T ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag ACCTGACGATGC CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAacctgacgatgcAGATCGAGACCCGACGC chr20:34119137-Reference-T;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Reference T ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CGGAATGCGTAC CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAcggaatgcgtacAGATCGAGACCCGACGC chr20:34119137-Reference-T;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative G ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CTACGAAGACCT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagGgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAActacgaagacctAGATCGAGACCCGACGC chr20:34119137-Alternative-G;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Reference T ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CATGCTCGTAGG CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagTgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAcatgctcgtaggAGATCGAGACCCGACGC chr20:34119137-Reference-T;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Variant A ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag AGCATCAACCGG CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAagcatcaaccggAGATCGAGACCCGACGC chr20:34119137-Variant-A;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Variant A ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CTATCTGTCGAT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAActatctgtcgatAGATCGAGACCCGACGC chr20:34119137-Variant-A;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Variant A ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag GTCAAGATGGTT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAgtcaagatggttAGATCGAGACCCGACGC chr20:34119137-Variant-A;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Variant A ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag GTCAATGTGCGC CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagAgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAgtcaatgtgcgcAGATCGAGACCCGACGC chr20:34119137-Variant-A;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative C ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CTTGCGATCGCA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAActtgcgatcgcaAGATCGAGACCCGACGC chr20:34119137-Alternative-C;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative C ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CAACTAGCCTAA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAcaactagcctaaAGATCGAGACCCGACGC chr20:34119137-Alternative-C;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative C ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag GGAGATCGCCTT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAggagatcgccttAGATCGAGACCCGACGC chr20:34119137-Alternative-C;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative C ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag ATTCAAGCGCCT CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAattcaagcgcctAGATCGAGACCCGACGC chr20:34119137-Alternative-C;Patient-37 chr20:34119137-TA Inherited Patient-37 intergenic NA 0.000513 -0.12 1.24 0 CEP250 75913 Alternative C ttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacag CGGAGTTGTGCA CGACGCGGTCTCTCTCTttcaagcaatcctttcacctcagcttgccaagatgctgggactacagaagCgtgccaccacgctaggcttatttatttatttaatttatttttgaaacagAGAGGGAGACGGACGTCTCAATAAcggagttgtgcaAGATCGAGACCCGACGC chr20:34119137-Alternative-C;Patient-37 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative A ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct AGTACGGCAACG CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAagtacggcaacgAGATCGAGACCCGACGC chr20:34330104-Alternative-A;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative A ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct CGGATGCGGATT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAcggatgcggattAGATCGAGACCCGACGC chr20:34330104-Alternative-A;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Variant C ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GGATCAAGTAGA CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAggatcaagtagaAGATCGAGACCCGACGC chr20:34330104-Variant-C;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative A ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct CAAGTCGTAGAA CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAcaagtcgtagaaAGATCGAGACCCGACGC chr20:34330104-Alternative-A;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative A ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ATCTCGTACATC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAatctcgtacatcAGATCGAGACCCGACGC chr20:34330104-Alternative-A;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative A ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GCAGCACAAGGT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaAccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAgcagcacaaggtAGATCGAGACCCGACGC chr20:34330104-Alternative-A;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative G ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GCGCTCTGAGTT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAgcgctctgagttAGATCGAGACCCGACGC chr20:34330104-Alternative-G;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative G ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GGCGTAACCTAA CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAggcgtaacctaaAGATCGAGACCCGACGC chr20:34330104-Alternative-G;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Variant C ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ACTCATTCGTAC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAactcattcgtacAGATCGAGACCCGACGC chr20:34330104-Variant-C;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Variant C ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ACCATTACCTGT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAaccattacctgtAGATCGAGACCCGACGC chr20:34330104-Variant-C;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative G ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ATCAAGGAGTAC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAatcaaggagtacAGATCGAGACCCGACGC chr20:34330104-Alternative-G;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Reference T ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GGCGAGAATAAC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAggcgagaataacAGATCGAGACCCGACGC chr20:34330104-Reference-T;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative G ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ATCGCATATCGA CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAatcgcatatcgaAGATCGAGACCCGACGC chr20:34330104-Alternative-G;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Variant C ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ACTTGGATGGTT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAacttggatggttAGATCGAGACCCGACGC chr20:34330104-Variant-C;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Variant C ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ATACGCGATGAA CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaCccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAatacgcgatgaaAGATCGAGACCCGACGC chr20:34330104-Variant-C;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Alternative G ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GTTCTGCGGCTT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaGccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAgttctgcggcttAGATCGAGACCCGACGC chr20:34330104-Alternative-G;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Reference T ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct CAATAGTTGCAC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAcaatagttgcacAGATCGAGACCCGACGC chr20:34330104-Reference-T;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Reference T ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct ACAGGTAACGAG CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAacaggtaacgagAGATCGAGACCCGACGC chr20:34330104-Reference-T;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Reference T ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct CTTACGACCGTC CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAActtacgaccgtcAGATCGAGACCCGACGC chr20:34330104-Reference-T;Patient-28 chr20:34330104-TC DeNovo Patient-28 5 prime UTR RBM39 NA 0.000159744 2.58 22.7 4.5 RBM39 153 Reference T ttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgct GTGTCGTGATAT CGACGCGGTCTCTCTCTttagagaagcccacgcgggagagcaggacggcggcttcggcagctcaggaTccacccctgcgacagcgtcgacaagctccctgaaatggcggccgctgctAGAGGGAGACGGACGTCTCAATAAgtgtcgtgatatAGATCGAGACCCGACGC chr20:34330104-Reference-T;Patient-28 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative C tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CATCTCGTAACT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAcatctcgtaactAGATCGAGACCCGACGC chr20:34854611-Alternative-C;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative C tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc AGCCGTGGAGAA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAagccgtggagaaAGATCGAGACCCGACGC chr20:34854611-Alternative-C;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative C tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CGAACGGAGGTT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAcgaacggaggttAGATCGAGACCCGACGC chr20:34854611-Alternative-C;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Reference G tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CTCTCGGAGCTT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAActctcggagcttAGATCGAGACCCGACGC chr20:34854611-Reference-G;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative T tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc ATCGCAATGCTA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAatcgcaatgctaAGATCGAGACCCGACGC chr20:34854611-Alternative-T;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Variant A tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc ATTGCTGCGCCA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAattgctgcgccaAGATCGAGACCCGACGC chr20:34854611-Variant-A;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative T tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc ACACAGGTGTAA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAacacaggtgtaaAGATCGAGACCCGACGC chr20:34854611-Alternative-T;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative T tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GTGCTAGTCGCA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgtgctagtcgcaAGATCGAGACCCGACGC chr20:34854611-Alternative-T;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative T tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GAAGATGAGAGT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgaagatgagagtAGATCGAGACCCGACGC chr20:34854611-Alternative-T;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Reference G tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GCGTATTAAGCA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgcgtattaagcaAGATCGAGACCCGACGC chr20:34854611-Reference-G;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Reference G tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GTTCCACTAAGA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgttccactaagaAGATCGAGACCCGACGC chr20:34854611-Reference-G;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Reference G tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CGGATTCATAAG CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAcggattcataagAGATCGAGACCCGACGC chr20:34854611-Reference-G;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Variant A tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GGATGTTCGATT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAggatgttcgattAGATCGAGACCCGACGC chr20:34854611-Variant-A;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative T tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CTAACTAGTGCA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcTtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAActaactagtgcaAGATCGAGACCCGACGC chr20:34854611-Alternative-T;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative C tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GAGAGTCAACAT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgagagtcaacatAGATCGAGACCCGACGC chr20:34854611-Alternative-C;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Variant A tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GCAACGGCCATT CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgcaacggccattAGATCGAGACCCGACGC chr20:34854611-Variant-A;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Variant A tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GAATAAGCGCCA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgaataagcgccaAGATCGAGACCCGACGC chr20:34854611-Variant-A;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Reference G tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc AGTTCATTGCGA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcGtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAagttcattgcgaAGATCGAGACCCGACGC chr20:34854611-Reference-G;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Alternative C tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc GCAGTCGCGTTA CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcCtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAgcagtcgcgttaAGATCGAGACCCGACGC chr20:34854611-Alternative-C;Patient-6 chr20:34854611-GA DeNovo Patient-6 intergenic NA 0.000513 -0.07 1.71 -2.23 AAR2 30271 Variant A tcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctc CATAGACTAAGG CGACGCGGTCTCTCTCTtcttgtgctgggggtggagccgcagccctgccctcatccattcatcacgcAtatgcaccccttcttttcaggcagtggctcccaactctccccagggctcAGAGGGAGACGGACGTCTCAATAAcatagactaaggAGATCGAGACCCGACGC chr20:34854611-Variant-A;Patient-6 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Reference A tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgta CGGAATACCATA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAcggaataccataAGATCGAGACCCGACGC chr20:34858202-Reference-A;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Reference A tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgta GTCGGCGAGATA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgtcggcgagataAGATCGAGACCCGACGC chr20:34858202-Reference-A;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative C tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgta GTTCCGCTATAT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgttccgctatatAGATCGAGACCCGACGC chr20:34858202-Alternative-C;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Reference A tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgta ACGAACCGACGA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAacgaaccgacgaAGATCGAGACCCGACGC chr20:34858202-Reference-A;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative C tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgta CAGTTGCTCCGT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAcagttgctccgtAGATCGAGACCCGACGC chr20:34858202-Alternative-C;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative C tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgta AGATACAACACG CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAagatacaacacgAGATCGAGACCCGACGC chr20:34858202-Alternative-C;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative C tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgta GGTTGTAATGAG CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAggttgtaatgagAGATCGAGACCCGACGC chr20:34858202-Alternative-C;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Variant T tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgta GCAAGAATGCCT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgcaagaatgcctAGATCGAGACCCGACGC chr20:34858202-Variant-T;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Variant T tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgta ACAACTCACGGC CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAacaactcacggcAGATCGAGACCCGACGC chr20:34858202-Variant-T;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative C tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgta CATCAATGTCGA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgCgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAcatcaatgtcgaAGATCGAGACCCGACGC chr20:34858202-Alternative-C;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Variant T tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgta AACCGTGATCAA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAaaccgtgatcaaAGATCGAGACCCGACGC chr20:34858202-Variant-T;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Variant T tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgta CAGGATCATGTT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAcaggatcatgttAGATCGAGACCCGACGC chr20:34858202-Variant-T;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Variant T tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgta GATTAGGCCGGT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgTgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgattaggccggtAGATCGAGACCCGACGC chr20:34858202-Variant-T;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative G tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgta ACGAGCGAACAG CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAacgagcgaacagAGATCGAGACCCGACGC chr20:34858202-Alternative-G;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Reference A tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgta ACACGGCTCACA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAacacggctcacaAGATCGAGACCCGACGC chr20:34858202-Reference-A;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Reference A tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgta GCGTCAATCGAC CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgAgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgcgtcaatcgacAGATCGAGACCCGACGC chr20:34858202-Reference-A;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative G tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgta GGTAGTATCTGT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAggtagtatctgtAGATCGAGACCCGACGC chr20:34858202-Alternative-G;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative G tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgta CACGCATGATAC CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAcacgcatgatacAGATCGAGACCCGACGC chr20:34858202-Alternative-G;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative G tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgta ACACACGGATAA CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAacacacggataaAGATCGAGACCCGACGC chr20:34858202-Alternative-G;Patient-81 chr20:34858202-AT DeNovo Patient-81 intergenic 9.8e-05 0.00103 0.06 3.68 0.05 AAR2 33862 Alternative G tgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgta GCGTCCATCGAT CGACGCGGTCTCTCTCTtgcaacctccgcctcatgggttcatgccattctcctgcctcagcctcctgGgtagctgggactacagggacccgccatcaggctccgctaattttttgtaAGAGGGAGACGGACGTCTCAATAAgcgtccatcgatAGATCGAGACCCGACGC chr20:34858202-Alternative-G;Patient-81 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative G gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca CTCATTCGGCGA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAActcattcggcgaAGATCGAGACCCGACGC chr20:35874360-Alternative-G;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative G gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca GCGTCTATTATC CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAgcgtctattatcAGATCGAGACCCGACGC chr20:35874360-Alternative-G;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative G gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca ACGAGTTCACAT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAacgagttcacatAGATCGAGACCCGACGC chr20:35874360-Alternative-G;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Variant A gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AGCGGTCCAAGA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAagcggtccaagaAGATCGAGACCCGACGC chr20:35874360-Variant-A;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Variant A gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca GCGACACCAATT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAgcgacaccaattAGATCGAGACCCGACGC chr20:35874360-Variant-A;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Variant A gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AGTTGGTACCGG CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAagttggtaccggAGATCGAGACCCGACGC chr20:35874360-Variant-A;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative T gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca CGCTCACTCAAT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAcgctcactcaatAGATCGAGACCCGACGC chr20:35874360-Alternative-T;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative G gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca ATATGCCACGAT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAatatgccacgatAGATCGAGACCCGACGC chr20:35874360-Alternative-G;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Variant A gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca GGTTGAGATAAC CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAggttgagataacAGATCGAGACCCGACGC chr20:35874360-Variant-A;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative G gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca ATCCGTGACGCA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccGattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAatccgtgacgcaAGATCGAGACCCGACGC chr20:35874360-Alternative-G;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative T gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AGCTCTCGCCAA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAagctctcgccaaAGATCGAGACCCGACGC chr20:35874360-Alternative-T;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative T gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca GCCAACACGATT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAgccaacacgattAGATCGAGACCCGACGC chr20:35874360-Alternative-T;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Reference C gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca CTCTACTAACGG CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAActctactaacggAGATCGAGACCCGACGC chr20:35874360-Reference-C;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Reference C gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca GGTTGTGATCAT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAggttgtgatcatAGATCGAGACCCGACGC chr20:35874360-Reference-C;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Reference C gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AGACCGTCTGAG CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAagaccgtctgagAGATCGAGACCCGACGC chr20:35874360-Reference-C;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Reference C gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca CATGCTTCAGAA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAcatgcttcagaaAGATCGAGACCCGACGC chr20:35874360-Reference-C;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative T gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca CTCGTAGCGCAT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAActcgtagcgcatAGATCGAGACCCGACGC chr20:35874360-Alternative-T;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Alternative T gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AGTGCGGAGACA CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccTattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAagtgcggagacaAGATCGAGACCCGACGC chr20:35874360-Alternative-T;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Variant A gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca ACGAAGCCAATT CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccAattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAacgaagccaattAGATCGAGACCCGACGC chr20:35874360-Variant-A;Patient-22 chr20:35874360-CA Inherited Patient-22 intergenic NA 0.000512821 0.29 7.05 1.92 GHRH 10938 Reference C gtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggcca AACTCTCTTACG CGACGCGGTCTCTCTCTgtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctccCattcacagccccttcctttgtgcctgcctctcttggttgaagtgggccaAGAGGGAGACGGACGTCTCAATAAaactctcttacgAGATCGAGACCCGACGC chr20:35874360-Reference-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative C tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CATGTGAACAAG CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAcatgtgaacaagAGATCGAGACCCGACGC chr20:35874361-Alternative-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Reference A tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac ACACGGCTCTGA CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAacacggctctgaAGATCGAGACCCGACGC chr20:35874361-Reference-A;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative C tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AATGTTCGTGCA CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAaatgttcgtgcaAGATCGAGACCCGACGC chr20:35874361-Alternative-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative C tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac GTCTATTCGACT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAgtctattcgactAGATCGAGACCCGACGC chr20:35874361-Alternative-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Reference A tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CTAACGGCTGAC CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAActaacggctgacAGATCGAGACCCGACGC chr20:35874361-Reference-A;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Reference A tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AGCGTTAAGACA CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAagcgttaagacaAGATCGAGACCCGACGC chr20:35874361-Reference-A;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Variant T tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AAGCAGGACGAG CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAaagcaggacgagAGATCGAGACCCGACGC chr20:35874361-Variant-T;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative C tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CTTAGCCGAACC CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAActtagccgaaccAGATCGAGACCCGACGC chr20:35874361-Alternative-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative C tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AACTTGACAGCT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccCttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAaacttgacagctAGATCGAGACCCGACGC chr20:35874361-Alternative-C;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative G tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac GGCGGTTAGCTT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAggcggttagcttAGATCGAGACCCGACGC chr20:35874361-Alternative-G;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Variant T tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AGATCGTACCGG CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAagatcgtaccggAGATCGAGACCCGACGC chr20:35874361-Variant-T;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Variant T tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac ATCCGTATGGAT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAatccgtatggatAGATCGAGACCCGACGC chr20:35874361-Variant-T;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative G tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CTACCGTCTGGT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAActaccgtctggtAGATCGAGACCCGACGC chr20:35874361-Alternative-G;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative G tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac GCGTTGCATGAG CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAgcgttgcatgagAGATCGAGACCCGACGC chr20:35874361-Alternative-G;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Reference A tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CGCGAACACGAT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAcgcgaacacgatAGATCGAGACCCGACGC chr20:35874361-Reference-A;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative G tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac GTACTCTCGCAC CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAgtactctcgcacAGATCGAGACCCGACGC chr20:35874361-Alternative-G;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Alternative G tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AGACGTAGACGT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccGttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAagacgtagacgtAGATCGAGACCCGACGC chr20:35874361-Alternative-G;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Variant T tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac AGCTTGGTCGCA CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAagcttggtcgcaAGATCGAGACCCGACGC chr20:35874361-Variant-T;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Reference A tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CTCACCTTCATT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccAttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAActcaccttcattAGATCGAGACCCGACGC chr20:35874361-Reference-A;Patient-22 chr20:35874361-AT Inherited Patient-22 intergenic NA 0.000513 0.18 5.55 0.5 GHRH 10937 Variant T tgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccac CGCGAAGGTCAT CGACGCGGTCTCTCTCTtgggtctgggaggaaggagggggtcttggggcaggccgggcgcgcctcccTttcacagccccttcctttgtgcctgcctctcttggttgaagtgggccacAGAGGGAGACGGACGTCTCAATAAcgcgaaggtcatAGATCGAGACCCGACGC chr20:35874361-Variant-T;Patient-22 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative T cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc ATTCCACGCTAT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAattccacgctatAGATCGAGACCCGACGC chr20:36889175-Alternative-T;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Reference G cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc ACTATTGCGGTT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAactattgcggttAGATCGAGACCCGACGC chr20:36889175-Reference-G;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Reference G cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc CGGATGATTAAG CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAcggatgattaagAGATCGAGACCCGACGC chr20:36889175-Reference-G;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Reference G cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GACTGGACGAGA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgactggacgagaAGATCGAGACCCGACGC chr20:36889175-Reference-G;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Reference G cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc AACTTCCATCGT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAaacttccatcgtAGATCGAGACCCGACGC chr20:36889175-Reference-G;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative T cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GGAACTAGTCGC CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAggaactagtcgcAGATCGAGACCCGACGC chr20:36889175-Alternative-T;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Reference G cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc AGTACGAACCGC CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacGgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAagtacgaaccgcAGATCGAGACCCGACGC chr20:36889175-Reference-G;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative T cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GCAATCACGTTC CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgcaatcacgttcAGATCGAGACCCGACGC chr20:36889175-Alternative-T;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative T cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GATCGGAATGAA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgatcggaatgaaAGATCGAGACCCGACGC chr20:36889175-Alternative-T;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative T cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc ATCCTGCGCTGT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacTgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAatcctgcgctgtAGATCGAGACCCGACGC chr20:36889175-Alternative-T;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Variant A cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc CGTTCGTAATGA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAcgttcgtaatgaAGATCGAGACCCGACGC chr20:36889175-Variant-A;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative C cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc CTACACCACCAC CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAActacaccaccacAGATCGAGACCCGACGC chr20:36889175-Alternative-C;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Variant A cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc ATTCCGACCGGT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAattccgaccggtAGATCGAGACCCGACGC chr20:36889175-Variant-A;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative C cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc AGAACGAAGACA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAagaacgaagacaAGATCGAGACCCGACGC chr20:36889175-Alternative-C;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Variant A cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GCCGTGATTACG CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgccgtgattacgAGATCGAGACCCGACGC chr20:36889175-Variant-A;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Variant A cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GGCTAATGACAT CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAggctaatgacatAGATCGAGACCCGACGC chr20:36889175-Variant-A;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Variant A cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc ACCAACGATCTA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacAgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAaccaacgatctaAGATCGAGACCCGACGC chr20:36889175-Variant-A;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative C cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc CAGATATGGCCG CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAcagatatggccgAGATCGAGACCCGACGC chr20:36889175-Alternative-C;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative C cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GTTACGCTGACG CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgttacgctgacgAGATCGAGACCCGACGC chr20:36889175-Alternative-C;Patient-75 chr20:36889175-GA DeNovo Patient-75 intergenic NA 0.00047908 0.79 11.79 -0.26 TGM2 95474 Alternative C cggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggc GCAATGGATCCA CGACGCGGTCTCTCTCTcggcgagagacataagggagccgcgggcggcgcgggtcgggccaccagacCgggggcggcagcagaggcggggcggggcggggcgcggcgggacagcggcAGAGGGAGACGGACGTCTCAATAAgcaatggatccaAGATCGAGACCCGACGC chr20:36889175-Alternative-C;Patient-75 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative T ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt AATGGTTGGTGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAaatggttggtgtAGATCGAGACCCGACGC chr20:36996626-Alternative-T;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Reference A ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt CGTTGTCTTCAA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAcgttgtcttcaaAGATCGAGACCCGACGC chr20:36996626-Reference-A;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Variant G ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt AAGGTAGACCGG CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAaaggtagaccggAGATCGAGACCCGACGC chr20:36996626-Variant-G;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Variant G ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GTGGCAGCCTAA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgtggcagcctaaAGATCGAGACCCGACGC chr20:36996626-Variant-G;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Variant G ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt CACAGCTACCGA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAcacagctaccgaAGATCGAGACCCGACGC chr20:36996626-Variant-G;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative C ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt AATAGCCACGCG CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAaatagccacgcgAGATCGAGACCCGACGC chr20:36996626-Alternative-C;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Reference A ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GATACTTCCAAC CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgatacttccaacAGATCGAGACCCGACGC chr20:36996626-Reference-A;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Variant G ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt ACCTTCGATTGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAaccttcgattgtAGATCGAGACCCGACGC chr20:36996626-Variant-G;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative T ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt CGGTCAACGCTA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAcggtcaacgctaAGATCGAGACCCGACGC chr20:36996626-Alternative-T;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Reference A ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GTCGTGAACCGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgtcgtgaaccgtAGATCGAGACCCGACGC chr20:36996626-Reference-A;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Variant G ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GGCGTCGTAGAA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccGggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAggcgtcgtagaaAGATCGAGACCCGACGC chr20:36996626-Variant-G;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative C ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt AGCTAAGCGCGA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAagctaagcgcgaAGATCGAGACCCGACGC chr20:36996626-Alternative-C;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative C ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GTGCTACAACCT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgtgctacaacctAGATCGAGACCCGACGC chr20:36996626-Alternative-C;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative C ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt AAGGTTGATGGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAaaggttgatggtAGATCGAGACCCGACGC chr20:36996626-Alternative-C;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Reference A ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt CGGCCATATCGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAcggccatatcgtAGATCGAGACCCGACGC chr20:36996626-Reference-A;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative T ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt ACGCTTCTCGAC CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAacgcttctcgacAGATCGAGACCCGACGC chr20:36996626-Alternative-T;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative T ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GAATCATCACGT CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgaatcatcacgtAGATCGAGACCCGACGC chr20:36996626-Alternative-T;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative C ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt GTTGGACACAGG CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccCggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAgttggacacaggAGATCGAGACCCGACGC chr20:36996626-Alternative-C;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Alternative T ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt ACGCTGAATAGG CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccTggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAacgctgaataggAGATCGAGACCCGACGC chr20:36996626-Alternative-T;Patient-80 chr20:36996626-AG DeNovo Patient-80 intronic LBP NA 3.84e-05 -0.1 1.38 -1 LBP 21811 Reference A ctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctatttt CACGTTATGACA CGACGCGGTCTCTCTCTctataatcctagcactctgggaggccaaagtgggggggtagcttgaggccAggagttcaagaccaacctggacaacatagcaaaaccctgtctctattttAGAGGGAGACGGACGTCTCAATAAcacgttatgacaAGATCGAGACCCGACGC chr20:36996626-Reference-A;Patient-80 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative C tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AGCTCTCGGACA CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAagctctcggacaAGATCGAGACCCGACGC chr20:37289739-Alternative-C;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Variant A tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AATAGCCGCAAT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAaatagccgcaatAGATCGAGACCCGACGC chr20:37289739-Variant-A;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Variant A tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GATATACCAACC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAgatataccaaccAGATCGAGACCCGACGC chr20:37289739-Variant-A;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative C tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CGTAGTTGGATT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAcgtagttggattAGATCGAGACCCGACGC chr20:37289739-Alternative-C;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Variant A tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CTTACGTACGTT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAActtacgtacgttAGATCGAGACCCGACGC chr20:37289739-Variant-A;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Variant A tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GCAGACGACATT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAgcagacgacattAGATCGAGACCCGACGC chr20:37289739-Variant-A;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Variant A tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CAGTAAGGCCGA CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctAtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAcagtaaggccgaAGATCGAGACCCGACGC chr20:37289739-Variant-A;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Reference G tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg ATCCGACCGCAA CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAatccgaccgcaaAGATCGAGACCCGACGC chr20:37289739-Reference-G;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative C tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg ACAGACAAGTCT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAacagacaagtctAGATCGAGACCCGACGC chr20:37289739-Alternative-C;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative C tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AGTCATTGGCGC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAagtcattggcgcAGATCGAGACCCGACGC chr20:37289739-Alternative-C;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative T tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CATCAGATGGCG CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAcatcagatggcgAGATCGAGACCCGACGC chr20:37289739-Alternative-T;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Reference G tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GATGTCTCTTGT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAgatgtctcttgtAGATCGAGACCCGACGC chr20:37289739-Reference-G;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative T tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AATAGATACGGC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAaatagatacggcAGATCGAGACCCGACGC chr20:37289739-Alternative-T;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative T tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GGACTCGTTGGT CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAggactcgttggtAGATCGAGACCCGACGC chr20:37289739-Alternative-T;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative C tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GAGATGTTCCGG CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctCtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAgagatgttccggAGATCGAGACCCGACGC chr20:37289739-Alternative-C;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Reference G tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AAGGCTAAGGCG CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAaaggctaaggcgAGATCGAGACCCGACGC chr20:37289739-Reference-G;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative T tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CGGTAGACGTAC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAcggtagacgtacAGATCGAGACCCGACGC chr20:37289739-Alternative-T;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Reference G tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg CGACATTCGTTC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAcgacattcgttcAGATCGAGACCCGACGC chr20:37289739-Reference-G;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Alternative T tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg AGTCGACACGTC CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctTtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAagtcgacacgtcAGATCGAGACCCGACGC chr20:37289739-Alternative-T;Patient-62 chr20:37289739-GA DeNovo Patient-62 intergenic 0.000287 0.000512821 0 2.58 0.24 SLC32A1 63365 Reference G tgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcagg GGTGACGGTCAA CGACGCGGTCTCTCTCTtgaaacaatttaatgtcaaaacataagggccagcgtggtggctcatgcctGtaatcctagcactttgggaggctagtagggagaatggcttgagctcaggAGAGGGAGACGGACGTCTCAATAAggtgacggtcaaAGATCGAGACCCGACGC chr20:37289739-Reference-G;Patient-62 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative A tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg CTTAAGGCTAAG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAActtaaggctaagAGATCGAGACCCGACGC chr20:3793288-Alternative-A;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Reference C tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GTGCTTCGTTCG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgtgcttcgttcgAGATCGAGACCCGACGC chr20:3793288-Reference-C;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative A tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GGTAGCGTCGAA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAggtagcgtcgaaAGATCGAGACCCGACGC chr20:3793288-Alternative-A;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative A tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg AAGGCGACTATA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAaaggcgactataAGATCGAGACCCGACGC chr20:3793288-Alternative-A;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Reference C tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GGCCAACAGACT CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAggccaacagactAGATCGAGACCCGACGC chr20:3793288-Reference-C;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative A tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GTATCCTGACGG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgtatcctgacggAGATCGAGACCCGACGC chr20:3793288-Alternative-A;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Reference C tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg CGTTAGACGGTT CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAcgttagacggttAGATCGAGACCCGACGC chr20:3793288-Reference-C;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Reference C tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GTGATACCATCA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgtgataccatcaAGATCGAGACCCGACGC chr20:3793288-Reference-C;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Reference C tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GTTAGGAGATGT CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcCcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgttaggagatgtAGATCGAGACCCGACGC chr20:3793288-Reference-C;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative A tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg CGGTAGCCAAGA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcAcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAcggtagccaagaAGATCGAGACCCGACGC chr20:3793288-Alternative-A;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Variant T tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GATGGTAGTAGG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgatggtagtaggAGATCGAGACCCGACGC chr20:3793288-Variant-T;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Variant T tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg ACGTAACGACTA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAacgtaacgactaAGATCGAGACCCGACGC chr20:3793288-Variant-T;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative G tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg CTACCATGTCGG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAActaccatgtcggAGATCGAGACCCGACGC chr20:3793288-Alternative-G;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative G tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg ACGCGTTCGAAG CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAacgcgttcgaagAGATCGAGACCCGACGC chr20:3793288-Alternative-G;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative G tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg ATCGTTAGCTGA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAatcgttagctgaAGATCGAGACCCGACGC chr20:3793288-Alternative-G;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative G tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GGAGGTACTTAA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAggaggtacttaaAGATCGAGACCCGACGC chr20:3793288-Alternative-G;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Variant T tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg ACGTCGGAACCT CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAacgtcggaacctAGATCGAGACCCGACGC chr20:3793288-Variant-T;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Variant T tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GACGAATCGGCA CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgacgaatcggcaAGATCGAGACCCGACGC chr20:3793288-Variant-T;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Variant T tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg CGAGGATTCGAC CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcTcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAcgaggattcgacAGATCGAGACCCGACGC chr20:3793288-Variant-T;Patient-39 chr20:3793288-CT DeNovo Patient-39 intergenic NA 0.000513 0.34 7.66 0.05 CDC25B 16886 Alternative G tttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcgg GAATCAGGTTCT CGACGCGGTCTCTCTCTtttcaaaaaagaacaagggcggccgggcgtgggggctcacgcctgtaatcGcagctctttgggaggccgaggcgggcggatcacgaggtcaggagatcggAGAGGGAGACGGACGTCTCAATAAgaatcaggttctAGATCGAGACCCGACGC chr20:3793288-Alternative-G;Patient-39 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Reference G taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga ATTGACGGAACA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAattgacggaacaAGATCGAGACCCGACGC chr20:39332271-Reference-G;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Reference G taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GGTAGAAGGCCA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAggtagaaggccaAGATCGAGACCCGACGC chr20:39332271-Reference-G;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Reference G taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GATGACCGCGTT CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgatgaccgcgttAGATCGAGACCCGACGC chr20:39332271-Reference-G;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Reference G taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga AACGCACTTCCA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAaacgcacttccaAGATCGAGACCCGACGC chr20:39332271-Reference-G;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative T taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GACGGCTATCCT CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgacggctatcctAGATCGAGACCCGACGC chr20:39332271-Alternative-T;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Variant A taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GTATCAGCGTCG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgtatcagcgtcgAGATCGAGACCCGACGC chr20:39332271-Variant-A;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Reference G taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GACGTATACACG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagGtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgacgtatacacgAGATCGAGACCCGACGC chr20:39332271-Reference-G;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative T taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CTAATCGAGCTA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAActaatcgagctaAGATCGAGACCCGACGC chr20:39332271-Alternative-T;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative T taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CTATTGGCGTCC CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAActattggcgtccAGATCGAGACCCGACGC chr20:39332271-Alternative-T;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative T taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga ATAAGTCGCGCG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAataagtcgcgcgAGATCGAGACCCGACGC chr20:39332271-Alternative-T;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Variant A taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GTGAGGAGTACC CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgtgaggagtaccAGATCGAGACCCGACGC chr20:39332271-Variant-A;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative C taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga AGTTGACGCGAG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAagttgacgcgagAGATCGAGACCCGACGC chr20:39332271-Alternative-C;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Variant A taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CTATCTGTGCCG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAActatctgtgccgAGATCGAGACCCGACGC chr20:39332271-Variant-A;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Variant A taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CGTCTTCGTGGT CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAcgtcttcgtggtAGATCGAGACCCGACGC chr20:39332271-Variant-A;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative C taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga ACGAGGACGCTA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAacgaggacgctaAGATCGAGACCCGACGC chr20:39332271-Alternative-C;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative C taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CGTTGCATCAGG CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAcgttgcatcaggAGATCGAGACCCGACGC chr20:39332271-Alternative-C;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative T taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga CGGAGAAGCTGA CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagTtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAcggagaagctgaAGATCGAGACCCGACGC chr20:39332271-Alternative-T;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative C taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GTGATACCTGAT CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgtgatacctgatAGATCGAGACCCGACGC chr20:39332271-Alternative-C;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Alternative C taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GTGGCTTAAGTT CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagCtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgtggcttaagttAGATCGAGACCCGACGC chr20:39332271-Alternative-C;Patient-34 chr20:39332271-GA DeNovo Patient-34 intergenic NA 0.000513 -0.02 2.37 -2.02 MAFB 14390 Variant A taaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaaga GCAAGCTCAATC CGACGCGGTCTCTCTCTtaaatctgccattacgcagatacagcttcacaaaccctgaaaagtctgagAtaggaagtggattgcatgccatcaagaagtttaacatgggcaaacaagaAGAGGGAGACGGACGTCTCAATAAgcaagctcaatcAGATCGAGACCCGACGC chr20:39332271-Variant-A;Patient-34 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative G aatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GAGAGCATTGCG CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgagagcattgcgAGATCGAGACCCGACGC chr20:40341812-Alternative-G;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative G aatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GATAGCTCGATT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgatagctcgattAGATCGAGACCCGACGC chr20:40341812-Alternative-G;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative G aatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CTGCGGTTGCTT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAActgcggttgcttAGATCGAGACCCGACGC chr20:40341812-Alternative-G;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative G aatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca AGGAAGACGCAG CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAaggaagacgcagAGATCGAGACCCGACGC chr20:40341812-Alternative-G;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Variant T aatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca ACGTATCAGTAC CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAacgtatcagtacAGATCGAGACCCGACGC chr20:40341812-Variant-T;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Variant T aatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GGTCGCCAGTTA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAggtcgccagttaAGATCGAGACCCGACGC chr20:40341812-Variant-T;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative G aatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GCGAAGTTACGC CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgGtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgcgaagttacgcAGATCGAGACCCGACGC chr20:40341812-Alternative-G;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Variant T aatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GCACCTATGTAA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgcacctatgtaaAGATCGAGACCCGACGC chr20:40341812-Variant-T;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Variant T aatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GCGTCTTGGTCT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgcgtcttggtctAGATCGAGACCCGACGC chr20:40341812-Variant-T;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Variant T aatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GTGTTCCGTCGT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgTtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgtgttccgtcgtAGATCGAGACCCGACGC chr20:40341812-Variant-T;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative A aatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CTAATGCTTAGG CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAActaatgcttaggAGATCGAGACCCGACGC chr20:40341812-Alternative-A;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Reference C aatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca GACCTAGATCTA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAgacctagatctaAGATCGAGACCCGACGC chr20:40341812-Reference-C;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Reference C aatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CGTCGATGCGAA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcgtcgatgcgaaAGATCGAGACCCGACGC chr20:40341812-Reference-C;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative A aatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CATTGTCGGTAA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcattgtcggtaaAGATCGAGACCCGACGC chr20:40341812-Alternative-A;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative A aatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CGGAGCTAAGGT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcggagctaaggtAGATCGAGACCCGACGC chr20:40341812-Alternative-A;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative A aatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CGTCGAATTAGT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcgtcgaattagtAGATCGAGACCCGACGC chr20:40341812-Alternative-A;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Alternative A aatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CGATACGCCGAT CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgAtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcgatacgccgatAGATCGAGACCCGACGC chr20:40341812-Alternative-A;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Reference C aatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca ACAAGAGGTGCG CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAacaagaggtgcgAGATCGAGACCCGACGC chr20:40341812-Reference-C;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Reference C aatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CAGTACCTTGCG CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcagtaccttgcgAGATCGAGACCCGACGC chr20:40341812-Reference-C;Patient-26 chr20:40341812-CT DeNovo Patient-26 intergenic NA 0.000513 -0.67 0.03 -4.75 CHD6 94678 Reference C aatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtcca CACAACATGTCA CGACGCGGTCTCTCTCTaatctgatcacctgtccccctacttaggaccctttaatggattcttactgCtctttcaaaaaagaaaaaaatcttttctcaggctcctggccactgtccaAGAGGGAGACGGACGTCTCAATAAcacaacatgtcaAGATCGAGACCCGACGC chr20:40341812-Reference-C;Patient-26 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Reference C cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca AGGTATTAACCG CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAaggtattaaccgAGATCGAGACCCGACGC chr20:42070399-Reference-C;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Reference C cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca AACGCTTCGTTC CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAaacgcttcgttcAGATCGAGACCCGACGC chr20:42070399-Reference-C;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative A cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgcca AGTTCTGAACGT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAagttctgaacgtAGATCGAGACCCGACGC chr20:42070399-Alternative-A;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Reference C cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GCGTCCTACAAC CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAgcgtcctacaacAGATCGAGACCCGACGC chr20:42070399-Reference-C;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative A cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgcca ACATGAGTAACG CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAacatgagtaacgAGATCGAGACCCGACGC chr20:42070399-Alternative-A;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative A cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GGTCATACGCAG CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAggtcatacgcagAGATCGAGACCCGACGC chr20:42070399-Alternative-A;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Reference C cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GTCAACACGTGC CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAgtcaacacgtgcAGATCGAGACCCGACGC chr20:42070399-Reference-C;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative A cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CTCTAACTACCA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAActctaactaccaAGATCGAGACCCGACGC chr20:42070399-Alternative-A;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Variant T cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GCCTTACCTCTA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAgccttacctctaAGATCGAGACCCGACGC chr20:42070399-Variant-T;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative A cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgcca AGTTCCATGCTT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactActgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAagttccatgcttAGATCGAGACCCGACGC chr20:42070399-Alternative-A;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Variant T cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca AGATGCTTCTGA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAagatgcttctgaAGATCGAGACCCGACGC chr20:42070399-Variant-T;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Variant T cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CAACGGCCATAT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAcaacggccatatAGATCGAGACCCGACGC chr20:42070399-Variant-T;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Variant T cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GGAGAAGTGAGA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAggagaagtgagaAGATCGAGACCCGACGC chr20:42070399-Variant-T;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Variant T cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CTCGCAATCGGT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactTctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAActcgcaatcggtAGATCGAGACCCGACGC chr20:42070399-Variant-T;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative G cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GGAATGTGCTGT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAggaatgtgctgtAGATCGAGACCCGACGC chr20:42070399-Alternative-G;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative G cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CACACGTAGCAT CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAcacacgtagcatAGATCGAGACCCGACGC chr20:42070399-Alternative-G;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Reference C cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CGGCCTTATTGC CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactCctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAcggccttattgcAGATCGAGACCCGACGC chr20:42070399-Reference-C;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative G cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GCGTTAATGCGC CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAgcgttaatgcgcAGATCGAGACCCGACGC chr20:42070399-Alternative-G;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative G cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca CGAGACAACGCA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAcgagacaacgcaAGATCGAGACCCGACGC chr20:42070399-Alternative-G;Patient-104 chr20:42070399-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.21 5.95 0.24 SRSF6 16104 Alternative G cccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgcca GGTCGTTGAACA CGACGCGGTCTCTCTCTcccaggccggagtgcaataccacgatcctagctcactgcaggcttgaactGctgggatcaagcgatactcccacatagctgggactacaggtgcccgccaAGAGGGAGACGGACGTCTCAATAAggtcgttgaacaAGATCGAGACCCGACGC chr20:42070399-Alternative-G;Patient-104 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Variant G aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CTTGCGGTTATA CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAActtgcggttataAGATCGAGACCCGACGC chr20:42247395-Variant-G;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative C aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GTCAATCGTTGT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgtcaatcgttgtAGATCGAGACCCGACGC chr20:42247395-Alternative-C;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Reference A aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GCGCAATACTAA CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgcgcaatactaaAGATCGAGACCCGACGC chr20:42247395-Reference-A;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative C aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GTCGATGTTCGG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgtcgatgttcggAGATCGAGACCCGACGC chr20:42247395-Alternative-C;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Reference A aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GTTCTGTAGTCT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgttctgtagtctAGATCGAGACCCGACGC chr20:42247395-Reference-A;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative C aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CTAGGTAGCTAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAActaggtagctatAGATCGAGACCCGACGC chr20:42247395-Alternative-C;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative T aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaactt AGGTTCCGATAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAaggttccgatatAGATCGAGACCCGACGC chr20:42247395-Alternative-T;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative T aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CTGCGTCGCATT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAActgcgtcgcattAGATCGAGACCCGACGC chr20:42247395-Alternative-T;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Reference A aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CACGACATAGCG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAcacgacatagcgAGATCGAGACCCGACGC chr20:42247395-Reference-A;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative T aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaactt ACGCATCCGATA CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAacgcatccgataAGATCGAGACCCGACGC chr20:42247395-Alternative-T;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative T aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaactt ATTACGTACGCG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAattacgtacgcgAGATCGAGACCCGACGC chr20:42247395-Alternative-T;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative T aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CGCTGTTCCGAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggTttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAcgctgttccgatAGATCGAGACCCGACGC chr20:42247395-Alternative-T;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative C aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaactt AATGTGTGGTCG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAaatgtgtggtcgAGATCGAGACCCGACGC chr20:42247395-Alternative-C;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Variant G aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaactt AGCTCTCCTAAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAagctctcctaatAGATCGAGACCCGACGC chr20:42247395-Variant-G;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Variant G aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GGTGATTATTCG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAggtgattattcgAGATCGAGACCCGACGC chr20:42247395-Variant-G;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Variant G aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaactt CAAGCCTGAACC CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAcaagcctgaaccAGATCGAGACCCGACGC chr20:42247395-Variant-G;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Reference A aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GTTCGTAGACAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgttcgtagacatAGATCGAGACCCGACGC chr20:42247395-Reference-A;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Reference A aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaactt GCATATCGCTAT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggAttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAgcatatcgctatAGATCGAGACCCGACGC chr20:42247395-Reference-A;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Alternative C aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaactt ACGTTCCGTCGT CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggCttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAacgttccgtcgtAGATCGAGACCCGACGC chr20:42247395-Alternative-C;Patient-44 chr20:42247395-AG Inherited Patient-44 intronic IFT52 6.4e-05 0.000198 0.26 6.74 -0.75 IFT52 27823 Variant G aactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaactt ATCATCACAACG CGACGCGGTCTCTCTCTaactctcaacctcaggtgatccgcctgcctcggcctcccaaagtgctgggGttacaggctgatccactgcgcctggcctatagttggtatttctaaacttAGAGGGAGACGGACGTCTCAATAAatcatcacaacgAGATCGAGACCCGACGC chr20:42247395-Variant-G;Patient-44 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative G tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GGAGGATCGTAC CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAggaggatcgtacAGATCGAGACCCGACGC chr20:42322267-Alternative-G;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative G tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat CGAGCTCGCATA CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAcgagctcgcataAGATCGAGACCCGACGC chr20:42322267-Alternative-G;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative G tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GTAGGTAACAGT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgtaggtaacagtAGATCGAGACCCGACGC chr20:42322267-Alternative-G;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative G tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GAGTTAATGCCA CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgagttaatgccaAGATCGAGACCCGACGC chr20:42322267-Alternative-G;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative G tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat AACTCGCGCATC CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcGtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAaactcgcgcatcAGATCGAGACCCGACGC chr20:42322267-Alternative-G;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative T tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GGTCAAGAATGT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAggtcaagaatgtAGATCGAGACCCGACGC chr20:42322267-Alternative-T;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative T tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ATAGTTCGCCAA CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAatagttcgccaaAGATCGAGACCCGACGC chr20:42322267-Alternative-T;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative T tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ACAGGACGTGAA CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAacaggacgtgaaAGATCGAGACCCGACGC chr20:42322267-Alternative-T;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Reference A tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ACTCAATACGCA CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAactcaatacgcaAGATCGAGACCCGACGC chr20:42322267-Reference-A;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative T tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GGATAGACACCG CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAggatagacaccgAGATCGAGACCCGACGC chr20:42322267-Alternative-T;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Reference A tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GCGCGATGAACT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgcgcgatgaactAGATCGAGACCCGACGC chr20:42322267-Reference-A;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Variant C tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat CTACGTTCATGT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAActacgttcatgtAGATCGAGACCCGACGC chr20:42322267-Variant-C;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Variant C tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat CTAACGACCAAT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAActaacgaccaatAGATCGAGACCCGACGC chr20:42322267-Variant-C;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Alternative T tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ACGTAGATATCG CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcTtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAacgtagatatcgAGATCGAGACCCGACGC chr20:42322267-Alternative-T;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Reference A tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GATCACGGTCGT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgatcacggtcgtAGATCGAGACCCGACGC chr20:42322267-Reference-A;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Reference A tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GTTCAATCCTAC CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgttcaatcctacAGATCGAGACCCGACGC chr20:42322267-Reference-A;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Reference A tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ACGCGTGACTAT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcAtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAacgcgtgactatAGATCGAGACCCGACGC chr20:42322267-Reference-A;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Variant C tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat GATGAACGGTAT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAgatgaacggtatAGATCGAGACCCGACGC chr20:42322267-Variant-C;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Variant C tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ATACGATCCAAC CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAatacgatccaacAGATCGAGACCCGACGC chr20:42322267-Variant-C;Patient-93 chr20:42322267-AC DeNovo Patient-93 intronic MYBL2 NA 4.95e-05 -0.16 0.96 -0.86 MYBL2 26607 Variant C tccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttat ATCGTGCGTAGT CGACGCGGTCTCTCTCTtccacccacctgagcctcccaaagtgctggcattacagacgtgagccagcCtgccccagctacatttgcagttttaaaaatgaaatcagtatatacttatAGAGGGAGACGGACGTCTCAATAAatcgtgcgtagtAGATCGAGACCCGACGC chr20:42322267-Variant-C;Patient-93 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative G aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CATGTCAAGCAT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAcatgtcaagcatAGATCGAGACCCGACGC chr20:43323078-Alternative-G;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative G aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GACCGCGTACTA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAgaccgcgtactaAGATCGAGACCCGACGC chr20:43323078-Alternative-G;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative G aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CGTCGTTACTAT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAcgtcgttactatAGATCGAGACCCGACGC chr20:43323078-Alternative-G;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Variant T aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg ATAGGTGAGGAC CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAataggtgaggacAGATCGAGACCCGACGC chr20:43323078-Variant-T;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Variant T aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg ACGTACCACAAC CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAacgtaccacaacAGATCGAGACCCGACGC chr20:43323078-Variant-T;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Variant T aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg ACCTTAGTTCGC CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAaccttagttcgcAGATCGAGACCCGACGC chr20:43323078-Variant-T;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Variant T aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GCGAATGCGTGT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAgcgaatgcgtgtAGATCGAGACCCGACGC chr20:43323078-Variant-T;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative G aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CTTGACGGCCAA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAActtgacggccaaAGATCGAGACCCGACGC chr20:43323078-Alternative-G;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Variant T aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CGAACTCTAAGA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcTtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAcgaactctaagaAGATCGAGACCCGACGC chr20:43323078-Variant-T;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative A aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GCAGTGTCTACG CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAgcagtgtctacgAGATCGAGACCCGACGC chr20:43323078-Alternative-A;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative G aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GTTACCGGTGGT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcGtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAgttaccggtggtAGATCGAGACCCGACGC chr20:43323078-Alternative-G;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Reference C aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GCGTTAGGTTCG CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAgcgttaggttcgAGATCGAGACCCGACGC chr20:43323078-Reference-C;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Reference C aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg AAGGCGGTCTGT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAaaggcggtctgtAGATCGAGACCCGACGC chr20:43323078-Reference-C;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative A aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CGCTGCGCTTAA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAcgctgcgcttaaAGATCGAGACCCGACGC chr20:43323078-Alternative-A;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative A aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg AATGTCCGCTAA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAaatgtccgctaaAGATCGAGACCCGACGC chr20:43323078-Alternative-A;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative A aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg GGTGTAATACGA CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAggtgtaatacgaAGATCGAGACCCGACGC chr20:43323078-Alternative-A;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Reference C aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CTAGTACCACTT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAActagtaccacttAGATCGAGACCCGACGC chr20:43323078-Reference-C;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Reference C aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg ACTGCGGCTGAT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAactgcggctgatAGATCGAGACCCGACGC chr20:43323078-Reference-C;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Alternative A aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg CGCGATCACATC CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcAtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAcgcgatcacatcAGATCGAGACCCGACGC chr20:43323078-Alternative-A;Patient-99 chr20:43323078-CT DeNovo Patient-99 intergenic 9.6e-05 0.00103 1.4 15.35 0.5 ADA 42694 Reference C aaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctg AACGTGCCGGAT CGACGCGGTCTCTCTCTaaacctcagtggctttgcactacaaatacttggttcccttgaaacccctcCtctgcttgaagttaggtagagccaagtaacatagctttggcctactctgAGAGGGAGACGGACGTCTCAATAAaacgtgccggatAGATCGAGACCCGACGC chr20:43323078-Reference-C;Patient-99 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Variant C ccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CTGCTTGACTTA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAActgcttgacttaAGATCGAGACCCGACGC chr20:43760537-Variant-C;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Variant C ccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CACTTCGTCGGT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAcacttcgtcggtAGATCGAGACCCGACGC chr20:43760537-Variant-C;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Variant C ccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AGGTTAAGACGC CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAaggttaagacgcAGATCGAGACCCGACGC chr20:43760537-Variant-C;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Variant C ccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg GTCTATTACGAG CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAgtctattacgagAGATCGAGACCCGACGC chr20:43760537-Variant-C;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Reference T ccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AGCAGTTCGAGT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAagcagttcgagtAGATCGAGACCCGACGC chr20:43760537-Reference-T;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Reference T ccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AGTCGCGACGAA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAagtcgcgacgaaAGATCGAGACCCGACGC chr20:43760537-Reference-T;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Reference T ccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg GCGTACCACGTT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAgcgtaccacgttAGATCGAGACCCGACGC chr20:43760537-Reference-T;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Variant C ccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg GCGCATGGCTAA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattCatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAgcgcatggctaaAGATCGAGACCCGACGC chr20:43760537-Variant-C;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Reference T ccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CTACCGATCTAC CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAActaccgatctacAGATCGAGACCCGACGC chr20:43760537-Reference-T;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative A ccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CGATCGTGGCTT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAcgatcgtggcttAGATCGAGACCCGACGC chr20:43760537-Alternative-A;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative G ccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AGGACAGCATGT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAaggacagcatgtAGATCGAGACCCGACGC chr20:43760537-Alternative-G;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Reference T ccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg ACTGCGCGATCA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattTatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAactgcgcgatcaAGATCGAGACCCGACGC chr20:43760537-Reference-T;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative A ccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg ATAGATCCGTGT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAatagatccgtgtAGATCGAGACCCGACGC chr20:43760537-Alternative-A;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative A ccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CTTACTACGCAT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAActtactacgcatAGATCGAGACCCGACGC chr20:43760537-Alternative-A;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative A ccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg GCGAAGACGGTT CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAgcgaagacggttAGATCGAGACCCGACGC chr20:43760537-Alternative-A;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative G ccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AAGACGTAACGA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAaagacgtaacgaAGATCGAGACCCGACGC chr20:43760537-Alternative-G;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative A ccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg AAGCGCAACATA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattAatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAaagcgcaacataAGATCGAGACCCGACGC chr20:43760537-Alternative-A;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative G ccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CTGTGCAAGTCG CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAActgtgcaagtcgAGATCGAGACCCGACGC chr20:43760537-Alternative-G;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative G ccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg GTCTCGCAAGCA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAgtctcgcaagcaAGATCGAGACCCGACGC chr20:43760537-Alternative-G;Patient-57 chr20:43760537-TC DeNovo Patient-57 intergenic NA 0.000513 1.29 14.86 0.14 KCNS1 30783 Alternative G ccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtg CAACGTGTCTTA CGACGCGGTCTCTCTCTccctcccttttaatttttctcagagcagatagttttatgcatagtttattGatatttgtactcaaatttgccacagtttgtaatgacgtatgtatctgtgAGAGGGAGACGGACGTCTCAATAAcaacgtgtcttaAGATCGAGACCCGACGC chr20:43760537-Alternative-G;Patient-57 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Variant C ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcagg AAGATGGTGGAA CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAaagatggtggaaAGATCGAGACCCGACGC chr20:43883601-Variant-C;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Reference T ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcagg AACCACGTACTA CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAaaccacgtactaAGATCGAGACCCGACGC chr20:43883601-Reference-T;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative G ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcagg CTTGCGCGAACT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAActtgcgcgaactAGATCGAGACCCGACGC chr20:43883601-Alternative-G;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative A ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcagg CGCCAATGGCTT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcgccaatggcttAGATCGAGACCCGACGC chr20:43883601-Alternative-A;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Reference T ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcagg ATCTCAAGTACG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAatctcaagtacgAGATCGAGACCCGACGC chr20:43883601-Reference-T;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Reference T ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcagg CACAGGTGGACA CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcacaggtggacaAGATCGAGACCCGACGC chr20:43883601-Reference-T;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative A ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcagg AGCCGGTTCAGA CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAagccggttcagaAGATCGAGACCCGACGC chr20:43883601-Alternative-A;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Reference T ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcagg CGGATTAGCGAC CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcggattagcgacAGATCGAGACCCGACGC chr20:43883601-Reference-T;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative A ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcagg GGTTCGACTACG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAggttcgactacgAGATCGAGACCCGACGC chr20:43883601-Alternative-A;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Variant C ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcagg GCGACTGCGAAT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAgcgactgcgaatAGATCGAGACCCGACGC chr20:43883601-Variant-C;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Variant C ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcagg CGATTCGTACGG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcgattcgtacggAGATCGAGACCCGACGC chr20:43883601-Variant-C;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Variant C ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcagg CGGAGGAAGACT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcggaggaagactAGATCGAGACCCGACGC chr20:43883601-Variant-C;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Variant C ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcagg ATATAGGTTCGG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaCtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAatataggttcggAGATCGAGACCCGACGC chr20:43883601-Variant-C;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative A ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcagg AGATCACACCGG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAagatcacaccggAGATCGAGACCCGACGC chr20:43883601-Alternative-A;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Reference T ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcagg CTTGGTATTAGG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaTtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAActtggtattaggAGATCGAGACCCGACGC chr20:43883601-Reference-T;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative G ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcagg ATACGCTCCTGT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAatacgctcctgtAGATCGAGACCCGACGC chr20:43883601-Alternative-G;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative A ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcagg AGATTCTGTCCT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaAtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAagattctgtcctAGATCGAGACCCGACGC chr20:43883601-Alternative-A;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative G ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcagg ATCGGAAGCACG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAatcggaagcacgAGATCGAGACCCGACGC chr20:43883601-Alternative-G;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative G ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcagg GAGATAGATAGG CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAgagatagataggAGATCGAGACCCGACGC chr20:43883601-Alternative-G;Patient-92 chr20:43883601-TC Inherited Patient-92 intergenic NA 0.000513 0.13 4.78 -1.41 PI3 80060 Alternative G ctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcagg CAGACAAGACGT CGACGCGGTCTCTCTCTctggaactaaaaccagacacagactccctgctgagactttgtgcaatacaGtctattctcacattgctaattctgattctcacattactggactctcaggAGAGGGAGACGGACGTCTCAATAAcagacaagacgtAGATCGAGACCCGACGC chr20:43883601-Alternative-G;Patient-92 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative A attactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttact AGCTTCGCTTCG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAagcttcgcttcgAGATCGAGACCCGACGC chr20:45048717-Alternative-A;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Variant T attactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttact CTCGTTCATCGG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAActcgttcatcggAGATCGAGACCCGACGC chr20:45048717-Variant-T;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative A attactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttact CGATCCAACACG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcgatccaacacgAGATCGAGACCCGACGC chr20:45048717-Alternative-A;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative A attactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttact CATCACGTCGAG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcatcacgtcgagAGATCGAGACCCGACGC chr20:45048717-Alternative-A;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Variant T attactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttact AACAACGGAGGT CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAaacaacggaggtAGATCGAGACCCGACGC chr20:45048717-Variant-T;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative G attactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttact ACCTACAGGTCG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAacctacaggtcgAGATCGAGACCCGACGC chr20:45048717-Alternative-G;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Variant T attactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttact CGCACCGTAAGA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcgcaccgtaagaAGATCGAGACCCGACGC chr20:45048717-Variant-T;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative A attactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttact GCCGATATACGC CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAgccgatatacgcAGATCGAGACCCGACGC chr20:45048717-Alternative-A;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Reference C attactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttact CGATCCAACAAT CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcgatccaacaatAGATCGAGACCCGACGC chr20:45048717-Reference-C;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Variant T attactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttact CAGATTACGTTC CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcagattacgttcAGATCGAGACCCGACGC chr20:45048717-Variant-T;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative A attactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttact AAGCACCAACTT CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaAtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAaagcaccaacttAGATCGAGACCCGACGC chr20:45048717-Alternative-A;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative G attactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttact ACTGGTAGTACT CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAactggtagtactAGATCGAGACCCGACGC chr20:45048717-Alternative-G;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative G attactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttact AAGTTAGCCGAA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAaagttagccgaaAGATCGAGACCCGACGC chr20:45048717-Alternative-G;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Reference C attactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttact GACGTTCGACAC CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAgacgttcgacacAGATCGAGACCCGACGC chr20:45048717-Reference-C;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Variant T attactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttact CATCGCAGCATA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaTtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcatcgcagcataAGATCGAGACCCGACGC chr20:45048717-Variant-T;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Reference C attactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttact AGTCCGCCGATA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAagtccgccgataAGATCGAGACCCGACGC chr20:45048717-Reference-C;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Reference C attactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttact CGTCAGGCATTC CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAcgtcaggcattcAGATCGAGACCCGACGC chr20:45048717-Reference-C;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative G attactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttact GCGTGTTCACGA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAgcgtgttcacgaAGATCGAGACCCGACGC chr20:45048717-Alternative-G;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Alternative G attactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttact GAGTAGAGCACA CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaGtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAgagtagagcacaAGATCGAGACCCGACGC chr20:45048717-Alternative-G;Patient-103 chr20:45048717-CT DeNovo Patient-103 intergenic NA 0.000512821 -0.05 1.94 0 ELMO2 13445 Reference C attactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttact GATGATCATTCG CGACGCGGTCTCTCTCTattactatttatttatttattactattttatttactattttatttatttaCtatttattttatttatttatttattatttattttatttatttatttactAGAGGGAGACGGACGTCTCAATAAgatgatcattcgAGATCGAGACCCGACGC chr20:45048717-Reference-C;Patient-103 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Variant T gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag AAGACGCGATAT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAaagacgcgatatAGATCGAGACCCGACGC chr20:45122160-Variant-T;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative G gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag AGTACGTCAGAA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAagtacgtcagaaAGATCGAGACCCGACGC chr20:45122160-Alternative-G;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Reference C gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GCCGGTAGCTAT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgccggtagctatAGATCGAGACCCGACGC chr20:45122160-Reference-C;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative A gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GCAATCGCGGAA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgcaatcgcggaaAGATCGAGACCCGACGC chr20:45122160-Alternative-A;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative A gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag CGCGTAGTGTTC CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAcgcgtagtgttcAGATCGAGACCCGACGC chr20:45122160-Alternative-A;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative A gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ACGCTGTGAATT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAacgctgtgaattAGATCGAGACCCGACGC chr20:45122160-Alternative-A;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative G gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GCGGTCTGGATT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgcggtctggattAGATCGAGACCCGACGC chr20:45122160-Alternative-G;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative A gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GTACCTATCACA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgtacctatcacaAGATCGAGACCCGACGC chr20:45122160-Alternative-A;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Variant T gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ACTTAAGACGAG CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAacttaagacgagAGATCGAGACCCGACGC chr20:45122160-Variant-T;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative G gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ATCGGAGACAGT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAatcggagacagtAGATCGAGACCCGACGC chr20:45122160-Alternative-G;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative A gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ATAGAGGCGTAA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaAgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAatagaggcgtaaAGATCGAGACCCGACGC chr20:45122160-Alternative-A;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Variant T gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GATACCGGCATC CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgataccggcatcAGATCGAGACCCGACGC chr20:45122160-Variant-T;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative G gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GTATCTTGGTCT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgtatcttggtctAGATCGAGACCCGACGC chr20:45122160-Alternative-G;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Alternative G gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ATCGCGTTACGG CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaGgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAatcgcgttacggAGATCGAGACCCGACGC chr20:45122160-Alternative-G;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Reference C gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag CGGAATCGGCTT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAcggaatcggcttAGATCGAGACCCGACGC chr20:45122160-Reference-C;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Variant T gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag ACAACTCTACGA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAacaactctacgaAGATCGAGACCCGACGC chr20:45122160-Variant-T;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Variant T gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag AATACAACGCCT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaTgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAaatacaacgcctAGATCGAGACCCGACGC chr20:45122160-Variant-T;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Reference C gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag AGTGTAGCCGGT CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAagtgtagccggtAGATCGAGACCCGACGC chr20:45122160-Reference-C;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Reference C gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag AGCGTTGACTTA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAagcgttgacttaAGATCGAGACCCGACGC chr20:45122160-Reference-C;Patient-26 chr20:45122160-CT DeNovo Patient-26 intergenic 0.000478 0.000513 -0.31 0.35 -1.47 ELMO2 86888 Reference C gtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgag GTACGTCGCATA CGACGCGGTCTCTCTCTgtcaagatggtttctgctgtcttgtctaaatggtcgggcgcagtggctcaCgcctgtaatcccagcactttgggagactgaggtgggtggatcacttgagAGAGGGAGACGGACGTCTCAATAAgtacgtcgcataAGATCGAGACCCGACGC chr20:45122160-Reference-C;Patient-26 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Reference C ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CTTACGCGTGCT CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAActtacgcgtgctAGATCGAGACCCGACGC chr20:46066675-Reference-C;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Reference C ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CTTAACGTATGG CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAActtaacgtatggAGATCGAGACCCGACGC chr20:46066675-Reference-C;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Reference C ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt AACCACATACGC CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAaaccacatacgcAGATCGAGACCCGACGC chr20:46066675-Reference-C;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative A ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GTACTGATTCGA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAgtactgattcgaAGATCGAGACCCGACGC chr20:46066675-Alternative-A;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Reference C ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt ACCGTTCGTAGG CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAaccgttcgtaggAGATCGAGACCCGACGC chr20:46066675-Reference-C;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Reference C ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CGGATTAACGTT CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaCgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAcggattaacgttAGATCGAGACCCGACGC chr20:46066675-Reference-C;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative G ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CGTGATGACATA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAcgtgatgacataAGATCGAGACCCGACGC chr20:46066675-Alternative-G;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative G ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt ACGCGCAATATA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAacgcgcaatataAGATCGAGACCCGACGC chr20:46066675-Alternative-G;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative G ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GCCGCGTAATCA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAgccgcgtaatcaAGATCGAGACCCGACGC chr20:46066675-Alternative-G;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative A ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GGCTAACCAAGG CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAggctaaccaaggAGATCGAGACCCGACGC chr20:46066675-Alternative-A;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative G ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GTGGCTCTAATA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAgtggctctaataAGATCGAGACCCGACGC chr20:46066675-Alternative-G;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Variant T ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CGAACCTAATCA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAcgaacctaatcaAGATCGAGACCCGACGC chr20:46066675-Variant-T;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative A ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt CAAGGTTGCGAC CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAcaaggttgcgacAGATCGAGACCCGACGC chr20:46066675-Alternative-A;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Variant T ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt AGCTACCTTCCA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAagctaccttccaAGATCGAGACCCGACGC chr20:46066675-Variant-T;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative G ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt ACTTGACGTACC CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaGgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAacttgacgtaccAGATCGAGACCCGACGC chr20:46066675-Alternative-G;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative A ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt AGGAATGACACG CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAaggaatgacacgAGATCGAGACCCGACGC chr20:46066675-Alternative-A;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Variant T ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GGCTTATCTATC CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAggcttatctatcAGATCGAGACCCGACGC chr20:46066675-Variant-T;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Variant T ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt GCCGAAGGAACA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAgccgaaggaacaAGATCGAGACCCGACGC chr20:46066675-Variant-T;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Alternative A ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt AATGCAACGTGT CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaAgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAaatgcaacgtgtAGATCGAGACCCGACGC chr20:46066675-Alternative-A;Patient-91 chr20:46066675-CT Inherited Patient-91 intergenic 6.4e-05 0.000513 0.44 8.84 0 NCOA3 63925 Variant T ttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggttt AGTACACCTCAA CGACGCGGTCTCTCTCTttcatgccattctcctgcctcagcctcccgagtagctgggattacaggcaTgtgccaccacacccggctaatttttgtatttttagtagagaaggggtttAGAGGGAGACGGACGTCTCAATAAagtacacctcaaAGATCGAGACCCGACGC chr20:46066675-Variant-T;Patient-91 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Reference G aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca ACCGAACGGCTA CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAaccgaacggctaAGATCGAGACCCGACGC chr20:46199655-Reference-G;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Reference G aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GGTGAGTGTACG CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAggtgagtgtacgAGATCGAGACCCGACGC chr20:46199655-Reference-G;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative T aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GATGAACATCGG CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgatgaacatcggAGATCGAGACCCGACGC chr20:46199655-Alternative-T;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Reference G aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca ATTCTACGACGA CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAattctacgacgaAGATCGAGACCCGACGC chr20:46199655-Reference-G;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative T aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca ATAGGAGGACGG CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAataggaggacggAGATCGAGACCCGACGC chr20:46199655-Alternative-T;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative T aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca AACCGAACTAAC CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAaaccgaactaacAGATCGAGACCCGACGC chr20:46199655-Alternative-T;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative T aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GGCTATTGACTT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAggctattgacttAGATCGAGACCCGACGC chr20:46199655-Alternative-T;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative C aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca CAACAAGAGTAC CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAcaacaagagtacAGATCGAGACCCGACGC chr20:46199655-Alternative-C;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Variant A aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca CGGACTCGGATA CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAcggactcggataAGATCGAGACCCGACGC chr20:46199655-Variant-A;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative C aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca ACCGTCCGTCAT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAaccgtccgtcatAGATCGAGACCCGACGC chr20:46199655-Alternative-C;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative T aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca CTGTGTTGTATC CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacTtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAActgtgttgtatcAGATCGAGACCCGACGC chr20:46199655-Alternative-T;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative C aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca AATGAAGCGCAC CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAaatgaagcgcacAGATCGAGACCCGACGC chr20:46199655-Alternative-C;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative C aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GTATATTCGGCA CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgtatattcggcaAGATCGAGACCCGACGC chr20:46199655-Alternative-C;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Variant A aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca AATCGAGAGTCA CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAaatcgagagtcaAGATCGAGACCCGACGC chr20:46199655-Variant-A;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Variant A aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GTACGTGCAGTC CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgtacgtgcagtcAGATCGAGACCCGACGC chr20:46199655-Variant-A;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Alternative C aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GACGATGCAACG CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacCtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgacgatgcaacgAGATCGAGACCCGACGC chr20:46199655-Alternative-C;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Reference G aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca CGGACCGAGTAT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAcggaccgagtatAGATCGAGACCCGACGC chr20:46199655-Reference-G;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Reference G aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GTAGGTAACGAT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacGtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgtaggtaacgatAGATCGAGACCCGACGC chr20:46199655-Reference-G;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Variant A aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca CTTGGAAGTACT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAActtggaagtactAGATCGAGACCCGACGC chr20:46199655-Variant-A;Patient-77 chr20:46199655-GA DeNovo Patient-77 intronic NCOA3 0.000272 0.000638774 NA NA NA NCOA3 69053 Variant A aacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacaca GTTGTGCAGCGT CGACGCGGTCTCTCTCTaacaacattaatctctttgtaccttgctatcagagctcttgggtgaccacAtgcaccgttaatgagcagtaatatatatacacacacacacacacacacaAGAGGGAGACGGACGTCTCAATAAgttgtgcagcgtAGATCGAGACCCGACGC chr20:46199655-Variant-A;Patient-77 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative T tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatcta GGCTGTTAAGTT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAggctgttaagttAGATCGAGACCCGACGC chr20:4632834-Alternative-T;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative T tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatcta CTTGATTCGACG CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAActtgattcgacgAGATCGAGACCCGACGC chr20:4632834-Alternative-T;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Reference G tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatcta CGGAACCTTGCT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAcggaaccttgctAGATCGAGACCCGACGC chr20:4632834-Reference-G;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Reference G tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatcta ATCTATCTGTCG CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAatctatctgtcgAGATCGAGACCCGACGC chr20:4632834-Reference-G;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative T tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatcta GACGACGACATT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAgacgacgacattAGATCGAGACCCGACGC chr20:4632834-Alternative-T;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Reference G tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatcta AACGAGTTCTGT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAaacgagttctgtAGATCGAGACCCGACGC chr20:4632834-Reference-G;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative C tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatcta AGGAACGTGGAG CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAaggaacgtggagAGATCGAGACCCGACGC chr20:4632834-Alternative-C;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Reference G tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatcta CGTATACACCGG CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAcgtatacaccggAGATCGAGACCCGACGC chr20:4632834-Reference-G;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Reference G tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatcta CGACGGAAGTGT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcGctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAcgacggaagtgtAGATCGAGACCCGACGC chr20:4632834-Reference-G;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative T tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatcta AAGCGTAGTATC CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAaagcgtagtatcAGATCGAGACCCGACGC chr20:4632834-Alternative-T;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative C tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatcta ACGGCTACGGTT CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAacggctacggttAGATCGAGACCCGACGC chr20:4632834-Alternative-C;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative C tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatcta AGATATGCGTAC CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAagatatgcgtacAGATCGAGACCCGACGC chr20:4632834-Alternative-C;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Variant A tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatcta AGATGGAGTCAC CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAagatggagtcacAGATCGAGACCCGACGC chr20:4632834-Variant-A;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Variant A tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatcta ACCACGCTTGTC CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAaccacgcttgtcAGATCGAGACCCGACGC chr20:4632834-Variant-A;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative C tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatcta AGCAAGGCCAAG CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAagcaaggccaagAGATCGAGACCCGACGC chr20:4632834-Alternative-C;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Variant A tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatcta CGGCCATTATAA CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAcggccattataaAGATCGAGACCCGACGC chr20:4632834-Variant-A;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Variant A tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatcta GAATGACTGTCA CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAgaatgactgtcaAGATCGAGACCCGACGC chr20:4632834-Variant-A;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Variant A tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatcta AGCGGATGAACA CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcActctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAagcggatgaacaAGATCGAGACCCGACGC chr20:4632834-Variant-A;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative T tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatcta GAATCGACCGAA CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcTctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAgaatcgaccgaaAGATCGAGACCCGACGC chr20:4632834-Alternative-T;Patient-55 chr20:4632834-GA Inherited Patient-55 intergenic NA 0.000513 -0.1 1.44 0.69 PRNP 33962 Alternative C tcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatcta GGTTCCGCCTAA CGACGCGGTCTCTCTCTtcaatgtttactactttttcctgtcttgcatttcatcctgtacctttctcCctctattctgggaagctttctcaagttttctctccacatcactaatctaAGAGGGAGACGGACGTCTCAATAAggttccgcctaaAGATCGAGACCCGACGC chr20:4632834-Alternative-C;Patient-55 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Reference C ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagac ACATCGGAGCTT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAacatcggagcttAGATCGAGACCCGACGC chr20:47383745-Reference-C;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Reference C ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagac AACGCGTGGTTC CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAaacgcgtggttcAGATCGAGACCCGACGC chr20:47383745-Reference-C;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative A ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagac ATTGTTGCGCTT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAattgttgcgcttAGATCGAGACCCGACGC chr20:47383745-Alternative-A;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative A ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagac GTGTCTACGCGT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgtgtctacgcgtAGATCGAGACCCGACGC chr20:47383745-Alternative-A;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Reference C ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagac ACGTAGCATGAA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAacgtagcatgaaAGATCGAGACCCGACGC chr20:47383745-Reference-C;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative A ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagac GAGCTACGTCCA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgagctacgtccaAGATCGAGACCCGACGC chr20:47383745-Alternative-A;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Reference C ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagac GCATCTAAGACA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgcatctaagacaAGATCGAGACCCGACGC chr20:47383745-Reference-C;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Variant T ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagac AATGTACTCGAC CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAaatgtactcgacAGATCGAGACCCGACGC chr20:47383745-Variant-T;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative A ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagac GCCACCAACTAA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgccaccaactaaAGATCGAGACCCGACGC chr20:47383745-Alternative-A;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Variant T ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagac GACAACGTCTAT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgacaacgtctatAGATCGAGACCCGACGC chr20:47383745-Variant-T;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Variant T ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagac AAGTAGGTACGT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAaagtaggtacgtAGATCGAGACCCGACGC chr20:47383745-Variant-T;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Variant T ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagac CGATCGCGGTAA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAcgatcgcggtaaAGATCGAGACCCGACGC chr20:47383745-Variant-T;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative G ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagac CAGCTGACGGTT CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAcagctgacggttAGATCGAGACCCGACGC chr20:47383745-Alternative-G;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative G ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagac AATCTGGTAGTC CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAaatctggtagtcAGATCGAGACCCGACGC chr20:47383745-Alternative-G;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative A ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagac GTTGGTGCGGAA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctAgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAgttggtgcggaaAGATCGAGACCCGACGC chr20:47383745-Alternative-A;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative G ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagac AGACGAAGACGG CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAagacgaagacggAGATCGAGACCCGACGC chr20:47383745-Alternative-G;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Variant T ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagac AGCGTTCGTAAG CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctTgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAagcgttcgtaagAGATCGAGACCCGACGC chr20:47383745-Variant-T;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative G ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagac ATCGTAGCGTTA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAatcgtagcgttaAGATCGAGACCCGACGC chr20:47383745-Alternative-G;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Alternative G ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagac ACCGCATCTAAC CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctGgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAaccgcatctaacAGATCGAGACCCGACGC chr20:47383745-Alternative-G;Patient-58 chr20:47383745-CT Inherited Patient-58 intronic PREX1 3.2e-05 0.000198 -0.35 0.25 -2.98 PREX1 60674 Reference C ggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagac CGGTATGCTCGA CGACGCGGTCTCTCTCTggctcccagctctggggctatgaggtcaggcccacacattctaaccacctCgactccctgccttccagccagaccagtgacaaccagccacaccacagacAGAGGGAGACGGACGTCTCAATAAcggtatgctcgaAGATCGAGACCCGACGC chr20:47383745-Reference-C;Patient-58 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative T ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttga CGGTACAATAAG CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAcggtacaataagAGATCGAGACCCGACGC chr20:484133-Alternative-T;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Variant G ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttga CGAATATGCGGC CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAcgaatatgcggcAGATCGAGACCCGACGC chr20:484133-Variant-G;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Variant G ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GTGCTCTATATC CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgtgctctatatcAGATCGAGACCCGACGC chr20:484133-Variant-G;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Variant G ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GGTGGCTATTCG CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAggtggctattcgAGATCGAGACCCGACGC chr20:484133-Variant-G;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Reference A ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttga CTTGTAGTAGGT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAActtgtagtaggtAGATCGAGACCCGACGC chr20:484133-Reference-A;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Reference A ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttga GATCGAGGCAGT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgatcgaggcagtAGATCGAGACCCGACGC chr20:484133-Reference-A;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Variant G ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttga AGGAGTCGATAT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAaggagtcgatatAGATCGAGACCCGACGC chr20:484133-Variant-G;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative C ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GTTATGAACGTC CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgttatgaacgtcAGATCGAGACCCGACGC chr20:484133-Alternative-C;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative T ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttga ATTACCATCGGT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAattaccatcggtAGATCGAGACCCGACGC chr20:484133-Alternative-T;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative C ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GCGCATAGGTTC CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgcgcataggttcAGATCGAGACCCGACGC chr20:484133-Alternative-C;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative T ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttga CGTAGGACGAGT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAcgtaggacgagtAGATCGAGACCCGACGC chr20:484133-Alternative-T;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Variant G ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttga CTTATAGTCGCT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatGctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAActtatagtcgctAGATCGAGACCCGACGC chr20:484133-Variant-G;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative C ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttga CGAGTGCGAATA CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAcgagtgcgaataAGATCGAGACCCGACGC chr20:484133-Alternative-C;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative T ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttga ATTACGGCCAAC CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAattacggccaacAGATCGAGACCCGACGC chr20:484133-Alternative-T;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Reference A ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttga GAATGCACCACG CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgaatgcaccacgAGATCGAGACCCGACGC chr20:484133-Reference-A;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Reference A ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttga CGCACCAAGAGT CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAcgcaccaagagtAGATCGAGACCCGACGC chr20:484133-Reference-A;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative C ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GACGTACGGCAA CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgacgtacggcaaAGATCGAGACCCGACGC chr20:484133-Alternative-C;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Reference A ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttga CTGCGTTCATTA CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatActgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAActgcgttcattaAGATCGAGACCCGACGC chr20:484133-Reference-A;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative C ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttga GTAAGTCAATCG CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatCctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAgtaagtcaatcgAGATCGAGACCCGACGC chr20:484133-Alternative-C;Patient-23 chr20:484133-AG DeNovo Patient-23 intronic CSNK2A1 0.000255 9.9e-05 0.07 3.77 0.99 CSNK2A1 40348 Alternative T ctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttga ATTCGTAGGCCG CGACGCGGTCTCTCTCTctctctggttctcaaagggcatgtgaagcaccccagcaatgcacaggaatTctgtggaacactttacatttttgaggaagacacatcaacccatcgttgaAGAGGGAGACGGACGTCTCAATAAattcgtaggccgAGATCGAGACCCGACGC chr20:484133-Alternative-T;Patient-23 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Variant G gtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GGCGACAGATGT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAggcgacagatgtAGATCGAGACCCGACGC chr20:49077360-Variant-G;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Variant G gtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc ATCTCACATCGT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAatctcacatcgtAGATCGAGACCCGACGC chr20:49077360-Variant-G;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Variant G gtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CGAACACATCAT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAcgaacacatcatAGATCGAGACCCGACGC chr20:49077360-Variant-G;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Variant G gtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc AGCACGATACGT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAagcacgatacgtAGATCGAGACCCGACGC chr20:49077360-Variant-G;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Reference T gtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc AGCCGATCCAAG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAagccgatccaagAGATCGAGACCCGACGC chr20:49077360-Reference-T;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Variant G gtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CTCTAGGCGAAG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccGcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAActctaggcgaagAGATCGAGACCCGACGC chr20:49077360-Variant-G;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Reference T gtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GGACGGCGTAAT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAggacggcgtaatAGATCGAGACCCGACGC chr20:49077360-Reference-T;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Reference T gtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GGAGGTAATGCA CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAggaggtaatgcaAGATCGAGACCCGACGC chr20:49077360-Reference-T;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Reference T gtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GATTAGTGAACG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgattagtgaacgAGATCGAGACCCGACGC chr20:49077360-Reference-T;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Reference T gtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc AGGAACAAGACA CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccTcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAaggaacaagacaAGATCGAGACCCGACGC chr20:49077360-Reference-T;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative A gtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GTGTAGCACGAG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgtgtagcacgagAGATCGAGACCCGACGC chr20:49077360-Alternative-A;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative C gtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GCGAGACAACAC CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgcgagacaacacAGATCGAGACCCGACGC chr20:49077360-Alternative-C;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative A gtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GATAATTGCGGT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgataattgcggtAGATCGAGACCCGACGC chr20:49077360-Alternative-A;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative A gtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GTAATCACGCAT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgtaatcacgcatAGATCGAGACCCGACGC chr20:49077360-Alternative-A;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative A gtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CGAATAGCTAAG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAcgaatagctaagAGATCGAGACCCGACGC chr20:49077360-Alternative-A;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative A gtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CAACAGACTAAG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccAcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAcaacagactaagAGATCGAGACCCGACGC chr20:49077360-Alternative-A;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative C gtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GTTATCCTGACA CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgttatcctgacaAGATCGAGACCCGACGC chr20:49077360-Alternative-C;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative C gtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CACAGATCCACG CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAcacagatccacgAGATCGAGACCCGACGC chr20:49077360-Alternative-C;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative C gtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc CGGAGCGATCAA CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAcggagcgatcaaAGATCGAGACCCGACGC chr20:49077360-Alternative-C;Patient-100 chr20:49077360-TG DeNovo Patient-100 intergenic NA 3.91e-05 0.26 6.62 0.85 PTPN1 49497 Alternative C gtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgcc GCGATTGCGTCT CGACGCGGTCTCTCTCTgtgattccctctagacgtggcaggagccattccctctggcctgagccaccCcagccctcaggatcatcaggccccaagtagtgccccgtcccagggtgccAGAGGGAGACGGACGTCTCAATAAgcgattgcgtctAGATCGAGACCCGACGC chr20:49077360-Alternative-C;Patient-100 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Reference T gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgt ACCTATAGCCAA CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAacctatagccaaAGATCGAGACCCGACGC chr20:49605000-Reference-T;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative G gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgt ACGAATGGTAAC CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAacgaatggtaacAGATCGAGACCCGACGC chr20:49605000-Alternative-G;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Reference T gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgt AGACGAAGTCAT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAagacgaagtcatAGATCGAGACCCGACGC chr20:49605000-Reference-T;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Reference T gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgt GCATGCATACTT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgcatgcatacttAGATCGAGACCCGACGC chr20:49605000-Reference-T;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative G gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgt GACTGTCGTAAT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgactgtcgtaatAGATCGAGACCCGACGC chr20:49605000-Alternative-G;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Reference T gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgt AACCGAGGTGGT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAaaccgaggtggtAGATCGAGACCCGACGC chr20:49605000-Reference-T;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Reference T gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgt GACATCGTGACA CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtTcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgacatcgtgacaAGATCGAGACCCGACGC chr20:49605000-Reference-T;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Variant C gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgt AATGCTTGTCCT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAaatgcttgtcctAGATCGAGACCCGACGC chr20:49605000-Variant-C;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative A gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgt AGGTGTACGTGG CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAaggtgtacgtggAGATCGAGACCCGACGC chr20:49605000-Alternative-A;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Variant C gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgt GGTGTTAATCGA CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAggtgttaatcgaAGATCGAGACCCGACGC chr20:49605000-Variant-C;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Variant C gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgt GGAACCTACAGG CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAggaacctacaggAGATCGAGACCCGACGC chr20:49605000-Variant-C;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative A gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgt CATGTGGTGGAG CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAcatgtggtggagAGATCGAGACCCGACGC chr20:49605000-Alternative-A;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative A gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgt AGAGTATGTGCA CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAagagtatgtgcaAGATCGAGACCCGACGC chr20:49605000-Alternative-A;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative A gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgt CAGCTACCTGCT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAcagctacctgctAGATCGAGACCCGACGC chr20:49605000-Alternative-A;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative G gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgt ATACGCCTCGCT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAatacgcctcgctAGATCGAGACCCGACGC chr20:49605000-Alternative-G;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Variant C gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgt AACGTCGGTCGT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAaacgtcggtcgtAGATCGAGACCCGACGC chr20:49605000-Variant-C;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Variant C gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgt AACAACACCGAT CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtCcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAaacaacaccgatAGATCGAGACCCGACGC chr20:49605000-Variant-C;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative A gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgt GCATGAAGCGAC CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtAcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgcatgaagcgacAGATCGAGACCCGACGC chr20:49605000-Alternative-A;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative G gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgt GACTGTGTCTAA CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgactgtgtctaaAGATCGAGACCCGACGC chr20:49605000-Alternative-G;Patient-84 chr20:49605000-TC Inherited Patient-84 intergenic 0.000325 0.000513 0 2.69 0.04 DPM1 29939 Alternative G gtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgt GATATGGACCGG CGACGCGGTCTCTCTCTgtgcccatcagctgagccagtgggaatacaggcctggtgctgcgaggggtGcactttttttttttttttttttttttttgagatggagtttcggtcttgtAGAGGGAGACGGACGTCTCAATAAgatatggaccggAGATCGAGACCCGACGC chr20:49605000-Alternative-G;Patient-84 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative C ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc ACGATACGTCAC CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAacgatacgtcacAGATCGAGACCCGACGC chr20:49662189-Alternative-C;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative C ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CATTGGTCTATC CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAcattggtctatcAGATCGAGACCCGACGC chr20:49662189-Alternative-C;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative C ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GGTGACAAGATT CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAggtgacaagattAGATCGAGACCCGACGC chr20:49662189-Alternative-C;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative C ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GGAAGACAACGG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAggaagacaacggAGATCGAGACCCGACGC chr20:49662189-Alternative-C;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Reference G ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CGCAGAGGTAGA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAcgcagaggtagaAGATCGAGACCCGACGC chr20:49662189-Reference-G;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Reference G ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GGCTATCCTATA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAggctatcctataAGATCGAGACCCGACGC chr20:49662189-Reference-G;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Variant A ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc AACGAGCGCCAA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAaacgagcgccaaAGATCGAGACCCGACGC chr20:49662189-Variant-A;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative T ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc AACAAGGTACAC CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAaacaaggtacacAGATCGAGACCCGACGC chr20:49662189-Alternative-T;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Variant A ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GATACTAGCGCG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAgatactagcgcgAGATCGAGACCCGACGC chr20:49662189-Variant-A;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Reference G ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GTCGTCTACGAG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAgtcgtctacgagAGATCGAGACCCGACGC chr20:49662189-Reference-G;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative T ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CTGAACGTCACG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAActgaacgtcacgAGATCGAGACCCGACGC chr20:49662189-Alternative-T;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Reference G ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GCAGCTAACTGA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAgcagctaactgaAGATCGAGACCCGACGC chr20:49662189-Reference-G;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Reference G ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CGTCTGGATTCG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgGctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAcgtctggattcgAGATCGAGACCCGACGC chr20:49662189-Reference-G;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Variant A ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GGATAATCACGA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAggataatcacgaAGATCGAGACCCGACGC chr20:49662189-Variant-A;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative T ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc ACGACTTGAATC CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAacgacttgaatcAGATCGAGACCCGACGC chr20:49662189-Alternative-T;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Variant A ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CATCGGAACGTT CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAcatcggaacgttAGATCGAGACCCGACGC chr20:49662189-Variant-A;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative T ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc GCACCAACAACG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAgcaccaacaacgAGATCGAGACCCGACGC chr20:49662189-Alternative-T;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Variant A ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc AGATCGGAATCA CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgActagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAagatcggaatcaAGATCGAGACCCGACGC chr20:49662189-Variant-A;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative T ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc AGAGTGTCACCG CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgTctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAagagtgtcaccgAGATCGAGACCCGACGC chr20:49662189-Alternative-T;Patient-24 chr20:49662189-GA DeNovo Patient-24 intergenic NA 0.000513 -0.22 0.61 0.24 KCNG1 22513 Alternative C ctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctc CATGTCGAATGT CGACGCGGTCTCTCTCTctgggtaatttataaaggaaagaggtttaatgaactcacagttccacgtgCctagggaggcctcaaaattgtggcagaaggaagagcaaagggacttctcAGAGGGAGACGGACGTCTCAATAAcatgtcgaatgtAGATCGAGACCCGACGC chr20:49662189-Alternative-C;Patient-24 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Reference C aatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GAGATCGATCGG CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgagatcgatcggAGATCGAGACCCGACGC chr20:49727337-Reference-C;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Reference C aatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ATTCTCGGACTT CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAattctcggacttAGATCGAGACCCGACGC chr20:49727337-Reference-C;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative A aatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACACCTTACCGT CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAacaccttaccgtAGATCGAGACCCGACGC chr20:49727337-Alternative-A;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative A aatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg AGTACGTTGAGA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAagtacgttgagaAGATCGAGACCCGACGC chr20:49727337-Alternative-A;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Reference C aatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GATAGACGTCAA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgatagacgtcaaAGATCGAGACCCGACGC chr20:49727337-Reference-C;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative A aatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GCATCCAAGATA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgcatccaagataAGATCGAGACCCGACGC chr20:49727337-Alternative-A;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Reference C aatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg CGAACGGTCTAC CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAcgaacggtctacAGATCGAGACCCGACGC chr20:49727337-Reference-C;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative A aatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACGCTACCTACG CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAacgctacctacgAGATCGAGACCCGACGC chr20:49727337-Alternative-A;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Reference C aatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACGCCTATGACG CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccCgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAacgcctatgacgAGATCGAGACCCGACGC chr20:49727337-Reference-C;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Variant T aatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ATCAACCGGTCC CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAatcaaccggtccAGATCGAGACCCGACGC chr20:49727337-Variant-T;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative A aatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GCGTCAAGTATT CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccAgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgcgtcaagtattAGATCGAGACCCGACGC chr20:49727337-Alternative-A;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Variant T aatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GAAGATTACCGG CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgaagattaccggAGATCGAGACCCGACGC chr20:49727337-Variant-T;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Variant T aatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACACAGCTAGAA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAacacagctagaaAGATCGAGACCCGACGC chr20:49727337-Variant-T;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative G aatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg CAGTCCGGTAGA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAcagtccggtagaAGATCGAGACCCGACGC chr20:49727337-Alternative-G;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Variant T aatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg CGTGCCGGATAT CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAcgtgccggatatAGATCGAGACCCGACGC chr20:49727337-Variant-T;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative G aatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACCTTGGTTAGT CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAaccttggttagtAGATCGAGACCCGACGC chr20:49727337-Alternative-G;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative G aatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg ACCATGGAACGC CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAaccatggaacgcAGATCGAGACCCGACGC chr20:49727337-Alternative-G;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Variant T aatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GTGCGAACGCAA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccTgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgtgcgaacgcaaAGATCGAGACCCGACGC chr20:49727337-Variant-T;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative G aatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg GTATCTGTTCCA CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAgtatctgttccaAGATCGAGACCCGACGC chr20:49727337-Alternative-G;Patient-55 chr20:49727337-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.42 0.15 -2.31 KCNG1 87661 Alternative G aatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtg CGAATAACTACC CGACGCGGTCTCTCTCTaatcagacagcaactgcctctcttcacattcattcattttccagatccccGgcacacttattggtgcctatacagtgtcaggtgtagacagatgagcgtgAGAGGGAGACGGACGTCTCAATAAcgaataactaccAGATCGAGACCCGACGC chr20:49727337-Alternative-G;Patient-55 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Variant C gacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctatt CGCAATGTAACA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAcgcaatgtaacaAGATCGAGACCCGACGC chr20:50508613-Variant-C;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Reference T gacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AATACGGCATTC CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAaatacggcattcAGATCGAGACCCGACGC chr20:50508613-Reference-T;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Variant C gacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AATAGCGAACGG CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAaatagcgaacggAGATCGAGACCCGACGC chr20:50508613-Variant-C;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Variant C gacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GTAGAAGTGACT CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAgtagaagtgactAGATCGAGACCCGACGC chr20:50508613-Variant-C;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative A gacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GGCTACGGTATA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAggctacggtataAGATCGAGACCCGACGC chr20:50508613-Alternative-A;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Reference T gacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AACGCTTAACGT CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAaacgcttaacgtAGATCGAGACCCGACGC chr20:50508613-Reference-T;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Reference T gacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AGGCCGAGTTGT CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAaggccgagttgtAGATCGAGACCCGACGC chr20:50508613-Reference-T;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative G gacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AGCTAACAGCTA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAagctaacagctaAGATCGAGACCCGACGC chr20:50508613-Alternative-G;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Reference T gacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctatt AATACGGACGGC CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAaatacggacggcAGATCGAGACCCGACGC chr20:50508613-Reference-T;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Reference T gacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctatt ACGCTTGTACTA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataTggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAacgcttgtactaAGATCGAGACCCGACGC chr20:50508613-Reference-T;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative G gacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctatt ATTGCGCTCGCA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAattgcgctcgcaAGATCGAGACCCGACGC chr20:50508613-Alternative-G;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative G gacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GTCGGAGGTAAG CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAgtcggaggtaagAGATCGAGACCCGACGC chr20:50508613-Alternative-G;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative A gacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GCAACGGCATTC CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAgcaacggcattcAGATCGAGACCCGACGC chr20:50508613-Alternative-A;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative G gacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GACGCATGATAA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAgacgcatgataaAGATCGAGACCCGACGC chr20:50508613-Alternative-G;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative A gacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctatt CGTTACCTCTAT CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAcgttacctctatAGATCGAGACCCGACGC chr20:50508613-Alternative-A;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Variant C gacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctatt CGTATGGTGATT CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAcgtatggtgattAGATCGAGACCCGACGC chr20:50508613-Variant-C;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative A gacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GGTTACCACGAG CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAggttaccacgagAGATCGAGACCCGACGC chr20:50508613-Alternative-A;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative G gacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctatt GTGTTATCTAGG CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataGggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAgtgttatctaggAGATCGAGACCCGACGC chr20:50508613-Alternative-G;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Variant C gacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctatt ACTACGGAATGA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataCggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAactacggaatgaAGATCGAGACCCGACGC chr20:50508613-Variant-C;Patient-32 chr20:50508613-TC DeNovo Patient-32 intergenic NA 0.000513 0.22 6.14 0.77 SALL4 89564 Alternative A gacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctatt CGCGGTGTAAGA CGACGCGGTCTCTCTCTgacttcaattggaatatttagatcatttacccttataggaattttttataAggttgaacttaaatttaccatcttgctctttattttttattgtcctattAGAGGGAGACGGACGTCTCAATAAcgcggtgtaagaAGATCGAGACCCGACGC chr20:50508613-Alternative-A;Patient-32 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Reference A aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GTTATTCGAACG CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAgttattcgaacgAGATCGAGACCCGACGC chr20:52185155-Reference-A;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Reference A aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CGCTCATATCAT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcgctcatatcatAGATCGAGACCCGACGC chr20:52185155-Reference-A;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Variant C aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc AGGCTCTGCTTC CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAaggctctgcttcAGATCGAGACCCGACGC chr20:52185155-Variant-C;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative T aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc AAGACGACGTAA CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAaagacgacgtaaAGATCGAGACCCGACGC chr20:52185155-Alternative-T;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Reference A aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GGAGTATACGGC CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAggagtatacggcAGATCGAGACCCGACGC chr20:52185155-Reference-A;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Reference A aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GATCGACATTGA CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAgatcgacattgaAGATCGAGACCCGACGC chr20:52185155-Reference-A;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Reference A aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CTATCGTGCAGT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataAaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAActatcgtgcagtAGATCGAGACCCGACGC chr20:52185155-Reference-A;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative G aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CAACCGTCATAT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcaaccgtcatatAGATCGAGACCCGACGC chr20:52185155-Alternative-G;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Variant C aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GCATGCGGACAT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAgcatgcggacatAGATCGAGACCCGACGC chr20:52185155-Variant-C;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Variant C aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GGCTCGTGTTCT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAggctcgtgttctAGATCGAGACCCGACGC chr20:52185155-Variant-C;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative T aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CGTGCGTGTGAA CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcgtgcgtgtgaaAGATCGAGACCCGACGC chr20:52185155-Alternative-T;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative T aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CAGATTACCAAC CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcagattaccaacAGATCGAGACCCGACGC chr20:52185155-Alternative-T;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative G aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CGCGGTGATGAT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcgcggtgatgatAGATCGAGACCCGACGC chr20:52185155-Alternative-G;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative T aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GTGTACTCTTGT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAgtgtactcttgtAGATCGAGACCCGACGC chr20:52185155-Alternative-T;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Variant C aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CGAGTTCGATGA CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAcgagttcgatgaAGATCGAGACCCGACGC chr20:52185155-Variant-C;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative T aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc ACCTCGTATTGT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataTaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAacctcgtattgtAGATCGAGACCCGACGC chr20:52185155-Alternative-T;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative G aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc CTCGTAGTTCTA CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAActcgtagttctaAGATCGAGACCCGACGC chr20:52185155-Alternative-G;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative G aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc GACGTTAACCGC CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAgacgttaaccgcAGATCGAGACCCGACGC chr20:52185155-Alternative-G;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Alternative G aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc ACACTTACGAAC CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataGaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAacacttacgaacAGATCGAGACCCGACGC chr20:52185155-Alternative-G;Patient-110 chr20:52185155-AC DeNovo Patient-110 3 prime UTR ZNF217 NA 3.98e-05 0.12 4.54 -0.24 ZNF217 14480 Variant C aggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatc AACGTATCGCAT CGACGCGGTCTCTCTCTaggcgaggaagaaggtgccttccccatctgagatgctcaaagttgcgataCaatgctgccagcttccgaatggctgacctcgatatctgcagcacatatcAGAGGGAGACGGACGTCTCAATAAaacgtatcgcatAGATCGAGACCCGACGC chr20:52185155-Variant-C;Patient-110 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative G agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GTGTCACGCGTT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgtgtcacgcgttAGATCGAGACCCGACGC chr20:52286139-Alternative-G;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative G agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt ACGAACACGAAC CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAacgaacacgaacAGATCGAGACCCGACGC chr20:52286139-Alternative-G;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative A agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt CTGTCTTGTAGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAActgtcttgtagtAGATCGAGACCCGACGC chr20:52286139-Alternative-A;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative G agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GCGTCGCATACT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgcgtcgcatactAGATCGAGACCCGACGC chr20:52286139-Alternative-G;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative A agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt AACTTCGTCTGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAaacttcgtctgtAGATCGAGACCCGACGC chr20:52286139-Alternative-A;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative G agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt CACGTATGCGGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAcacgtatgcggtAGATCGAGACCCGACGC chr20:52286139-Alternative-G;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Reference T agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GCAGTTGGAGGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgcagttggaggtAGATCGAGACCCGACGC chr20:52286139-Reference-T;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative A agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GTGCGGTGTTGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgtgcggtgttgtAGATCGAGACCCGACGC chr20:52286139-Alternative-A;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Reference T agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GCGGATCTCGAA CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgcggatctcgaaAGATCGAGACCCGACGC chr20:52286139-Reference-T;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative G agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt CTAGCGCAACGA CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttGgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAActagcgcaacgaAGATCGAGACCCGACGC chr20:52286139-Alternative-G;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Reference T agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt CGATAGAGTGCT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAcgatagagtgctAGATCGAGACCCGACGC chr20:52286139-Reference-T;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Reference T agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt AAGCGGATCGTC CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAaagcggatcgtcAGATCGAGACCCGACGC chr20:52286139-Reference-T;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Variant C agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GATGGAATTCCT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgatggaattcctAGATCGAGACCCGACGC chr20:52286139-Variant-C;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative A agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GTGAATCCTCGA CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgtgaatcctcgaAGATCGAGACCCGACGC chr20:52286139-Alternative-A;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Alternative A agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt AATGACGCACTT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttAgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAaatgacgcacttAGATCGAGACCCGACGC chr20:52286139-Alternative-A;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Reference T agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt ATTCGTTCGAAG CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttTgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAattcgttcgaagAGATCGAGACCCGACGC chr20:52286139-Reference-T;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Variant C agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GCCAGGAAGTAT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgccaggaagtatAGATCGAGACCCGACGC chr20:52286139-Variant-C;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Variant C agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt CAAGTTCACGGC CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAcaagttcacggcAGATCGAGACCCGACGC chr20:52286139-Variant-C;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Variant C agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt ACAGATGGACGT CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAacagatggacgtAGATCGAGACCCGACGC chr20:52286139-Variant-C;Patient-55 chr20:52286139-TC Inherited Patient-55 intergenic 0.000384 0.00154 0.19 5.68 1.48 ZNF217 86502 Variant C agaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttctt GTTAGCCTACGC CGACGCGGTCTCTCTCTagaggatttgggttttaatccctgtcctactgttcactcttgtgtgacttCgtgcaactttctttttctttttggcttgcttttgttgttttgttttcttAGAGGGAGACGGACGTCTCAATAAgttagcctacgcAGATCGAGACCCGACGC chr20:52286139-Variant-C;Patient-55 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative A catttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GATGATCCAACT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgatgatccaactAGATCGAGACCCGACGC chr20:5277343-Alternative-A;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative G catttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca ATTCGTGTGACA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAattcgtgtgacaAGATCGAGACCCGACGC chr20:5277343-Alternative-G;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative G catttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca CGTTAGCAGCGT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAcgttagcagcgtAGATCGAGACCCGACGC chr20:5277343-Alternative-G;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative A catttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GGATAGAACGTT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAggatagaacgttAGATCGAGACCCGACGC chr20:5277343-Alternative-A;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative A catttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca CATGAGGAGTCG CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAcatgaggagtcgAGATCGAGACCCGACGC chr20:5277343-Alternative-A;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Reference C catttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca AGGTTCAGGATA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAaggttcaggataAGATCGAGACCCGACGC chr20:5277343-Reference-C;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Reference C catttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GTGCTAACTGTT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgtgctaactgttAGATCGAGACCCGACGC chr20:5277343-Reference-C;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Reference C catttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GGATGATGTGAT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAggatgatgtgatAGATCGAGACCCGACGC chr20:5277343-Reference-C;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Reference C catttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca CTCGTACGTACA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAActcgtacgtacaAGATCGAGACCCGACGC chr20:5277343-Reference-C;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Reference C catttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GACAGTAACCTT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagCagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgacagtaaccttAGATCGAGACCCGACGC chr20:5277343-Reference-C;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative A catttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca AGGCGTGTGGTT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAaggcgtgtggttAGATCGAGACCCGACGC chr20:5277343-Alternative-A;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative A catttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca AACTTCTTGTGC CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagAagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAaacttcttgtgcAGATCGAGACCCGACGC chr20:5277343-Alternative-A;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Variant T catttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GACTATGACGAA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgactatgacgaaAGATCGAGACCCGACGC chr20:5277343-Variant-T;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Variant T catttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca CGGCAGAGATAC CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAcggcagagatacAGATCGAGACCCGACGC chr20:5277343-Variant-T;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Variant T catttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca AGTACTCTGCGG CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAagtactctgcggAGATCGAGACCCGACGC chr20:5277343-Variant-T;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Variant T catttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GCATGTCAAGAA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgcatgtcaagaaAGATCGAGACCCGACGC chr20:5277343-Variant-T;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative G catttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GGTTGAACTACA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAggttgaactacaAGATCGAGACCCGACGC chr20:5277343-Alternative-G;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Variant T catttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GCGGACAAGTCT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagTagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAgcggacaagtctAGATCGAGACCCGACGC chr20:5277343-Variant-T;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative G catttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca CAACAGGCTCCT CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAcaacaggctcctAGATCGAGACCCGACGC chr20:5277343-Alternative-G;Patient-30 chr20:5277343-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA PROKR2 17671 Alternative G catttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagca GGAACGAAGCCA CGACGCGGTCTCTCTCTcatttactatgggaatccaggctgccttgctaatgaattgctccatgtagGagcgaggtttctcccagccgagggctgaaagtgaagaccttgcttagcaAGAGGGAGACGGACGTCTCAATAAggaacgaagccaAGATCGAGACCCGACGC chr20:5277343-Alternative-G;Patient-30 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative G tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GTAGCGGCTTGT CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAgtagcggcttgtAGATCGAGACCCGACGC chr20:55877225-Alternative-G;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative G tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GGCTAATAAGTC CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAggctaataagtcAGATCGAGACCCGACGC chr20:55877225-Alternative-G;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Variant T tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt CGGAACAGAGGT CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAcggaacagaggtAGATCGAGACCCGACGC chr20:55877225-Variant-T;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative G tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt AAGACCTGGATA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAaagacctggataAGATCGAGACCCGACGC chr20:55877225-Alternative-G;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative G tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GGCACGTTGGAA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAggcacgttggaaAGATCGAGACCCGACGC chr20:55877225-Alternative-G;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Variant T tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt CTTAATGGCCGG CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAActtaatggccggAGATCGAGACCCGACGC chr20:55877225-Variant-T;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Reference C tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt CATATGCGCCGT CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAcatatgcgccgtAGATCGAGACCCGACGC chr20:55877225-Reference-C;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Variant T tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt ATCAATCCGGTT CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAatcaatccggttAGATCGAGACCCGACGC chr20:55877225-Variant-T;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative G tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GGTAGCTAGCCA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgGctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAggtagctagccaAGATCGAGACCCGACGC chr20:55877225-Alternative-G;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Variant T tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt ATCTGTCGCCAC CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAatctgtcgccacAGATCGAGACCCGACGC chr20:55877225-Variant-T;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Reference C tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt AGCGGAGAGTCA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAagcggagagtcaAGATCGAGACCCGACGC chr20:55877225-Reference-C;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative A tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GGTCTTACTACG CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAggtcttactacgAGATCGAGACCCGACGC chr20:55877225-Alternative-A;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Reference C tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GTTGGTAGGATA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAgttggtaggataAGATCGAGACCCGACGC chr20:55877225-Reference-C;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Reference C tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GCATTCGCGTCA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAgcattcgcgtcaAGATCGAGACCCGACGC chr20:55877225-Reference-C;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative A tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggttt ACGCGGACAACT CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAacgcggacaactAGATCGAGACCCGACGC chr20:55877225-Alternative-A;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative A tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggttt ACTTCATACCAC CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAacttcataccacAGATCGAGACCCGACGC chr20:55877225-Alternative-A;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative A tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggttt AACCGTAACGAA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAaaccgtaacgaaAGATCGAGACCCGACGC chr20:55877225-Alternative-A;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Variant T tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt AGAGTACCGTGG CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgTctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAagagtaccgtggAGATCGAGACCCGACGC chr20:55877225-Variant-T;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Alternative A tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GACCGTCATTAA CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgActgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAgaccgtcattaaAGATCGAGACCCGACGC chr20:55877225-Alternative-A;Patient-61 chr20:55877225-CT Inherited Patient-61 intergenic 0.000479 0.000513 -0.09 1.53 0.16 BMP7 35517 Reference C tcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggttt GGCAATATATCG CGACGCGGTCTCTCTCTtcaagcgattctcctgcctcagcctccccgagtagctgggattacaggcgCctgccaccatgccaggctaaattttgtatatttagtagagatgaggtttAGAGGGAGACGGACGTCTCAATAAggcaatatatcgAGATCGAGACCCGACGC chr20:55877225-Reference-C;Patient-61 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Reference C ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac CATTAAGGCGCG CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAcattaaggcgcgAGATCGAGACCCGACGC chr20:56790348-Reference-C;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Variant G ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GTAGAGCGCTGA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgtagagcgctgaAGATCGAGACCCGACGC chr20:56790348-Variant-G;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative T ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac ATCGTACTGACG CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAatcgtactgacgAGATCGAGACCCGACGC chr20:56790348-Alternative-T;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative T ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GCCGGCTCATAA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgccggctcataaAGATCGAGACCCGACGC chr20:56790348-Alternative-T;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Reference C ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GTTCGTTATTCG CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgttcgttattcgAGATCGAGACCCGACGC chr20:56790348-Reference-C;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative T ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GTCCGTTGGCAA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgtccgttggcaaAGATCGAGACCCGACGC chr20:56790348-Alternative-T;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Variant G ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GTCGGAGGTCAA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgtcggaggtcaaAGATCGAGACCCGACGC chr20:56790348-Variant-G;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Variant G ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac CAACGATGGAGA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAcaacgatggagaAGATCGAGACCCGACGC chr20:56790348-Variant-G;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Variant G ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac ACTACGGTAAGA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAactacggtaagaAGATCGAGACCCGACGC chr20:56790348-Variant-G;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative A ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac ACGGTCTGGTCT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAacggtctggtctAGATCGAGACCCGACGC chr20:56790348-Alternative-A;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative T ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GTAATTATCGCG CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgtaattatcgcgAGATCGAGACCCGACGC chr20:56790348-Alternative-T;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative A ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac CGGATAAGTCGC CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAcggataagtcgcAGATCGAGACCCGACGC chr20:56790348-Alternative-A;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative A ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GCGAGATCCAAT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgcgagatccaatAGATCGAGACCCGACGC chr20:56790348-Alternative-A;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative A ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac AGAGTTACGCGG CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAagagttacgcggAGATCGAGACCCGACGC chr20:56790348-Alternative-A;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Reference C ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac AAGCACGTAAGA CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAaagcacgtaagaAGATCGAGACCCGACGC chr20:56790348-Reference-C;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Variant G ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GATGTCCGCCTT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatGatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgatgtccgccttAGATCGAGACCCGACGC chr20:56790348-Variant-G;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative A ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac GCAAGATGTGAT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatAatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAgcaagatgtgatAGATCGAGACCCGACGC chr20:56790348-Alternative-A;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Reference C ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac ATCCTACGTACC CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAatcctacgtaccAGATCGAGACCCGACGC chr20:56790348-Reference-C;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Reference C ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac AGTGTAAGCAGT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatCatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAagtgtaagcagtAGATCGAGACCCGACGC chr20:56790348-Reference-C;Patient-32 chr20:56790348-CG DeNovo Patient-32 intergenic NA 0.000513 -0.18 0.84 0.85 RAB22A 94422 Alternative T ctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgac AACAACGTTCGT CGACGCGGTCTCTCTCTctggcagccaaggcaagtggaaacatgatggctcactcagctgccatcatTatctgctcatgacaagtatgtgcatctctccagtgggctccggcctgacAGAGGGAGACGGACGTCTCAATAAaacaacgttcgtAGATCGAGACCCGACGC chr20:56790348-Alternative-T;Patient-32 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Reference A ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg AGAGCAGTGTCG CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAagagcagtgtcgAGATCGAGACCCGACGC chr20:61037378-Reference-A;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Reference A ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GCATTGCGTACG CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgcattgcgtacgAGATCGAGACCCGACGC chr20:61037378-Reference-A;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative T ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CGAGGAGTATGC CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcgaggagtatgcAGATCGAGACCCGACGC chr20:61037378-Alternative-T;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Variant G ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GGACAGACTAGT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAggacagactagtAGATCGAGACCCGACGC chr20:61037378-Variant-G;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative T ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CACGAATTGTCA CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcacgaattgtcaAGATCGAGACCCGACGC chr20:61037378-Alternative-T;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative C ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CGTAGCGTGACA CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcgtagcgtgacaAGATCGAGACCCGACGC chr20:61037378-Alternative-C;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Reference A ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GTCAATGTAACC CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgtcaatgtaaccAGATCGAGACCCGACGC chr20:61037378-Reference-A;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Variant G ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg AGTTCGCCGCTT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAagttcgccgcttAGATCGAGACCCGACGC chr20:61037378-Variant-G;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative T ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg ATCTGGCTACTA CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAatctggctactaAGATCGAGACCCGACGC chr20:61037378-Alternative-T;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Reference A ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CGTTAGCCTATT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcgttagcctattAGATCGAGACCCGACGC chr20:61037378-Reference-A;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Variant G ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GTGAATTGCGAG CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgtgaattgcgagAGATCGAGACCCGACGC chr20:61037378-Variant-G;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative T ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GAATGGCATTCG CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgaatggcattcgAGATCGAGACCCGACGC chr20:61037378-Alternative-T;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Variant G ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CATTAGCGGCGA CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcattagcggcgaAGATCGAGACCCGACGC chr20:61037378-Variant-G;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Variant G ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GGTGTTGGCTGT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccGgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAggtgttggctgtAGATCGAGACCCGACGC chr20:61037378-Variant-G;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative C ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg ATACAACCTTCG CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAatacaaccttcgAGATCGAGACCCGACGC chr20:61037378-Alternative-C;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative T ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GACTGATCTTCT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccTgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgactgatcttctAGATCGAGACCCGACGC chr20:61037378-Alternative-T;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Reference A ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GCCTTGTACCGT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccAgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgccttgtaccgtAGATCGAGACCCGACGC chr20:61037378-Reference-A;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative C ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GATGAGAGCGCT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgatgagagcgctAGATCGAGACCCGACGC chr20:61037378-Alternative-C;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative C ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg CAGTCGCATAAT CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAcagtcgcataatAGATCGAGACCCGACGC chr20:61037378-Alternative-C;Patient-34 chr20:61037378-AG DeNovo Patient-34 intergenic NA 0.000513 0.06 3.65 0.55 RPS21 75256 Alternative C ggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgagg GCGCGATAGTCA CGACGCGGTCTCTCTCTggtagaggcagcaaccgtccaacctgcggggggacagactgtccttccccCgctgtggcctggcctggagaggcctgggaggtcactgccactggtgaggAGAGGGAGACGGACGTCTCAATAAgcgcgatagtcaAGATCGAGACCCGACGC chr20:61037378-Alternative-C;Patient-34 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative T cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GGATCTACTAAG CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAggatctactaagAGATCGAGACCCGACGC chr20:61774560-Alternative-T;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Reference G cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc AGGAAGTGAACC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAaggaagtgaaccAGATCGAGACCCGACGC chr20:61774560-Reference-G;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative T cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc AACCGCAACGCT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAaaccgcaacgctAGATCGAGACCCGACGC chr20:61774560-Alternative-T;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Reference G cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GTTGGAAGTGAT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgttggaagtgatAGATCGAGACCCGACGC chr20:61774560-Reference-G;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Variant A cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GATGGAGCAACC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgatggagcaaccAGATCGAGACCCGACGC chr20:61774560-Variant-A;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Reference G cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GTATCGACTTGA CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgtatcgacttgaAGATCGAGACCCGACGC chr20:61774560-Reference-G;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Reference G cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc CTCTTACCTGAA CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAActcttacctgaaAGATCGAGACCCGACGC chr20:61774560-Reference-G;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Variant A cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc CGTTCGGTAGGT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAcgttcggtaggtAGATCGAGACCCGACGC chr20:61774560-Variant-A;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Variant A cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GTTACCACAGCA CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgttaccacagcaAGATCGAGACCCGACGC chr20:61774560-Variant-A;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative T cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc AATGATGACGAC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAaatgatgacgacAGATCGAGACCCGACGC chr20:61774560-Alternative-T;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Reference G cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc ACAACGTCCTAC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccGtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAacaacgtcctacAGATCGAGACCCGACGC chr20:61774560-Reference-G;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Variant A cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GGTAGCGGAGAT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAggtagcggagatAGATCGAGACCCGACGC chr20:61774560-Variant-A;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative T cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GAGTCTGTTAGA CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgagtctgttagaAGATCGAGACCCGACGC chr20:61774560-Alternative-T;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative T cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc AGTACTAAGGAC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccTtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAagtactaaggacAGATCGAGACCCGACGC chr20:61774560-Alternative-T;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative C cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GGACATAGCCTA CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAggacatagcctaAGATCGAGACCCGACGC chr20:61774560-Alternative-C;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Variant A cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc ATAACGTCGTAC CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccAtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAataacgtcgtacAGATCGAGACCCGACGC chr20:61774560-Variant-A;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative C cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc CTTACACGGCAG CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAActtacacggcagAGATCGAGACCCGACGC chr20:61774560-Alternative-C;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative C cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GACATATACAGG CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgacatatacaggAGATCGAGACCCGACGC chr20:61774560-Alternative-C;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative C cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc ATCTAGCGCGGT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAatctagcgcggtAGATCGAGACCCGACGC chr20:61774560-Alternative-C;Patient-72 chr20:61774560-GA DeNovo Patient-72 intergenic 9.6e-05 0.00103 -0.06 1.78 0 BIRC7 92674 Alternative C cctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagc GCAGTAGGTACT CGACGCGGTCTCTCTCTcctcactctctccgtagccgttgctgtgacttgagcacctcagtctctccCtagccgttgctttgattgggctttgtcttcagcatggtactgggaaagcAGAGGGAGACGGACGTCTCAATAAgcagtaggtactAGATCGAGACCCGACGC chr20:61774560-Alternative-C;Patient-72 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative G tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattc AACTTCCGCGCT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAaacttccgcgctAGATCGAGACCCGACGC chr20:61899919-Alternative-G;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative G tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattc CATATGGATCCA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAcatatggatccaAGATCGAGACCCGACGC chr20:61899919-Alternative-G;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative G tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattc GTCCGTGAACAG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgtccgtgaacagAGATCGAGACCCGACGC chr20:61899919-Alternative-G;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Reference T tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattc CTTACCGAACAG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAActtaccgaacagAGATCGAGACCCGACGC chr20:61899919-Reference-T;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Reference T tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattc GATATGGCGCCA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgatatggcgccaAGATCGAGACCCGACGC chr20:61899919-Reference-T;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative G tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattc ACTTGAGCGCGT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAacttgagcgcgtAGATCGAGACCCGACGC chr20:61899919-Alternative-G;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative A tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattc ACATCGAACAGT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAacatcgaacagtAGATCGAGACCCGACGC chr20:61899919-Alternative-A;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative G tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattc ACGTTGAGTGAA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattGctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAacgttgagtgaaAGATCGAGACCCGACGC chr20:61899919-Alternative-G;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Reference T tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattc ATCCGACGTGGT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAatccgacgtggtAGATCGAGACCCGACGC chr20:61899919-Reference-T;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative A tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattc GTCGTTGTGCAG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgtcgttgtgcagAGATCGAGACCCGACGC chr20:61899919-Alternative-A;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Variant C tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattc GTCGGCTAACGA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgtcggctaacgaAGATCGAGACCCGACGC chr20:61899919-Variant-C;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative A tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattc CGTAGCACGTAT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAcgtagcacgtatAGATCGAGACCCGACGC chr20:61899919-Alternative-A;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Variant C tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattc ATTCTGGCACTT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAattctggcacttAGATCGAGACCCGACGC chr20:61899919-Variant-C;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Reference T tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattc GTCGTCGGCTTA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgtcgtcggcttaAGATCGAGACCCGACGC chr20:61899919-Reference-T;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative A tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattc GTAGGTACTACG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAgtaggtactacgAGATCGAGACCCGACGC chr20:61899919-Alternative-A;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Reference T tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattc AGACGGCATTAA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattTctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAagacggcattaaAGATCGAGACCCGACGC chr20:61899919-Reference-T;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Alternative A tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattc GGAACCTTCACG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattActcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAggaaccttcacgAGATCGAGACCCGACGC chr20:61899919-Alternative-A;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Variant C tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattc CAGGCTTAAGTT CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAcaggcttaagttAGATCGAGACCCGACGC chr20:61899919-Variant-C;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Variant C tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattc ACTTGGTAATCG CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAacttggtaatcgAGATCGAGACCCGACGC chr20:61899919-Variant-C;Patient-71 chr20:61899919-TC DeNovo Patient-71 intergenic 0.000223 0.00154 0.4 8.4 0.16 COL20A1 24618 Variant C tgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattc GGATAGTCGCGA CGACGCGGTCTCTCTCTtgtaagaaaatccaccagactgtgtggcttgtgagcaacagaaattcattCctcacagttctggaggccggaagtccaagatcaaggcatggggatattcAGAGGGAGACGGACGTCTCAATAAggatagtcgcgaAGATCGAGACCCGACGC chr20:61899919-Variant-C;Patient-71 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Variant C cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg CGTGTAACGATT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAcgtgtaacgattAGATCGAGACCCGACGC chr20:62017944-Variant-C;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative T cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg CAATGTGCTTCT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAcaatgtgcttctAGATCGAGACCCGACGC chr20:62017944-Alternative-T;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Variant C cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GGTTGACTGTGC CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAggttgactgtgcAGATCGAGACCCGACGC chr20:62017944-Variant-C;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Reference G cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg ACGACATCACGT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAacgacatcacgtAGATCGAGACCCGACGC chr20:62017944-Reference-G;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Reference G cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg ATCAAGGACAGT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAatcaaggacagtAGATCGAGACCCGACGC chr20:62017944-Reference-G;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative T cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GGTTCAGGAACG CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAggttcaggaacgAGATCGAGACCCGACGC chr20:62017944-Alternative-T;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative T cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg CGTTGGAACATT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAcgttggaacattAGATCGAGACCCGACGC chr20:62017944-Alternative-T;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Reference G cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg AGCGTAAGCGAC CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAagcgtaagcgacAGATCGAGACCCGACGC chr20:62017944-Reference-G;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Reference G cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GGCACGGATAAC CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAggcacggataacAGATCGAGACCCGACGC chr20:62017944-Reference-G;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative A cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg ACGCAGACTTAT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAacgcagacttatAGATCGAGACCCGACGC chr20:62017944-Alternative-A;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative A cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg ACGCAGACTAGA CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAacgcagactagaAGATCGAGACCCGACGC chr20:62017944-Alternative-A;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Variant C cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg ATCGAAGTCAAG CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAatcgaagtcaagAGATCGAGACCCGACGC chr20:62017944-Variant-C;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative T cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GGATGCTACGTC CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAggatgctacgtcAGATCGAGACCCGACGC chr20:62017944-Alternative-T;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Reference G cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg AGGCGACTCGAT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacGctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAaggcgactcgatAGATCGAGACCCGACGC chr20:62017944-Reference-G;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative A cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg CTCTAAGCGTAT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAActctaagcgtatAGATCGAGACCCGACGC chr20:62017944-Alternative-A;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Variant C cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GAATTAAGGACG CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAgaattaaggacgAGATCGAGACCCGACGC chr20:62017944-Variant-C;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative T cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GGCGTCATTCGA CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacTctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAggcgtcattcgaAGATCGAGACCCGACGC chr20:62017944-Alternative-T;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative A cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GACGCGTATAAC CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAgacgcgtataacAGATCGAGACCCGACGC chr20:62017944-Alternative-A;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Variant C cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg GCACGGATAAGT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacCctgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAgcacggataagtAGATCGAGACCCGACGC chr20:62017944-Variant-C;Patient-87 chr20:62017944-GC DeNovo Patient-87 intergenic NA 0.000512821 -1.14 0 -1.27 CHRNA4 25195 Alternative A cacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctgggg CGTCAATTCCAT CGACGCGGTCTCTCTCTcacaagactcacttgcagagggaagagcgcagaaaccgtcaccccaggacActgcggttgaacgagaggaagcgagaatggagaagccctggccctggggAGAGGGAGACGGACGTCTCAATAAcgtcaattccatAGATCGAGACCCGACGC chr20:62017944-Alternative-A;Patient-87 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Reference G agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GCGGAATTCTAA CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgcggaattctaaAGATCGAGACCCGACGC chr20:62207430-Reference-G;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Reference G agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GCATAGGCATGT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgcataggcatgtAGATCGAGACCCGACGC chr20:62207430-Reference-G;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Reference G agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CGTAGCGTTCGT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcgtagcgttcgtAGATCGAGACCCGACGC chr20:62207430-Reference-G;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Reference G agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GAATCAGGTACA CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgaatcaggtacaAGATCGAGACCCGACGC chr20:62207430-Reference-G;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Reference G agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GTTAGCGCGTCT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacGcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgttagcgcgtctAGATCGAGACCCGACGC chr20:62207430-Reference-G;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative T agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg AAGCGGAACACG CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAaagcggaacacgAGATCGAGACCCGACGC chr20:62207430-Alternative-T;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative T agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CGCAAGATCGAC CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcgcaagatcgacAGATCGAGACCCGACGC chr20:62207430-Alternative-T;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative T agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg ATCGGATGCGCT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAatcggatgcgctAGATCGAGACCCGACGC chr20:62207430-Alternative-T;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative T agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GTTCGCATGTCA CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgttcgcatgtcaAGATCGAGACCCGACGC chr20:62207430-Alternative-T;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Variant A agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CGCCGAACCTAA CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcgccgaacctaaAGATCGAGACCCGACGC chr20:62207430-Variant-A;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative T agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CAAGGTTCCGCT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacTcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcaaggttccgctAGATCGAGACCCGACGC chr20:62207430-Alternative-T;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Variant A agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg ATCGGCATACGT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAatcggcatacgtAGATCGAGACCCGACGC chr20:62207430-Variant-A;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Variant A agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg AGGTTGCTCACG CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAaggttgctcacgAGATCGAGACCCGACGC chr20:62207430-Variant-A;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative C agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg ACGCGATCCGAT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAacgcgatccgatAGATCGAGACCCGACGC chr20:62207430-Alternative-C;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative C agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CGTACGGATAAT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcgtacggataatAGATCGAGACCCGACGC chr20:62207430-Alternative-C;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Variant A agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GCAAGCGGTGTT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgcaagcggtgttAGATCGAGACCCGACGC chr20:62207430-Variant-A;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative C agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CTTGCTACTCTT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAActtgctactcttAGATCGAGACCCGACGC chr20:62207430-Alternative-C;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative C agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg CATATTAGGCCT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAcatattaggcctAGATCGAGACCCGACGC chr20:62207430-Alternative-C;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Variant A agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GCGTGTTAACAT CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacAcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgcgtgttaacatAGATCGAGACCCGACGC chr20:62207430-Variant-A;Patient-91 chr20:62207430-GA Inherited Patient-91 intergenic NA 0.000512821 -0.45 0.13 -0.85 HELZ2 1837 Alternative C agtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgagg GTTGGATATTCG CGACGCGGTCTCTCTCTagtctggggtgggatgaaagattggctctcggccaggcgcactggctcacCcctgtaatcccagcactttgggaggccaaggtgggcagatcacctgaggAGAGGGAGACGGACGTCTCAATAAgttggatattcgAGATCGAGACCCGACGC chr20:62207430-Alternative-C;Patient-91 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative C tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtga CAAGGTTGACGG CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAcaaggttgacggAGATCGAGACCCGACGC chr20:9098852-Alternative-C;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative C tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtga AAGGTACGAACC CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAaaggtacgaaccAGATCGAGACCCGACGC chr20:9098852-Alternative-C;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Reference A tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtga CAGGTAATGCGC CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAcaggtaatgcgcAGATCGAGACCCGACGC chr20:9098852-Reference-A;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative C tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GTTCTAGGTCGG CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAgttctaggtcggAGATCGAGACCCGACGC chr20:9098852-Alternative-C;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative C tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtga ATCTGCGATCTA CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAatctgcgatctaAGATCGAGACCCGACGC chr20:9098852-Alternative-C;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Reference A tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GACATGGCGAGT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAgacatggcgagtAGATCGAGACCCGACGC chr20:9098852-Reference-A;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Reference A tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtga AGAGTTGCCGGT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAagagttgccggtAGATCGAGACCCGACGC chr20:9098852-Reference-A;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Reference A tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GGCGACTAAGGT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAggcgactaaggtAGATCGAGACCCGACGC chr20:9098852-Reference-A;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative C tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GACGCAATGTGC CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaCtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAgacgcaatgtgcAGATCGAGACCCGACGC chr20:9098852-Alternative-C;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Reference A tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtga ACGCGTCGATTA CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaAtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAacgcgtcgattaAGATCGAGACCCGACGC chr20:9098852-Reference-A;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative T tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtga AGCTCTGTCGAG CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAagctctgtcgagAGATCGAGACCCGACGC chr20:9098852-Alternative-T;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Variant G tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GGTCAGGCAGTT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAggtcaggcagttAGATCGAGACCCGACGC chr20:9098852-Variant-G;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative T tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtga CTGTTCCAGCGT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAActgttccagcgtAGATCGAGACCCGACGC chr20:9098852-Alternative-T;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Variant G tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtga ACCGTAGTCAAT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAaccgtagtcaatAGATCGAGACCCGACGC chr20:9098852-Variant-G;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Variant G tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtga CTCATTGATTCG CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAActcattgattcgAGATCGAGACCCGACGC chr20:9098852-Variant-G;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative T tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtga CTGGCGAATCGA CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAActggcgaatcgaAGATCGAGACCCGACGC chr20:9098852-Alternative-T;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative T tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GAGATCGCGGTT CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAgagatcgcggttAGATCGAGACCCGACGC chr20:9098852-Alternative-T;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Alternative T tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtga AGATGCTGTCTA CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaTtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAagatgctgtctaAGATCGAGACCCGACGC chr20:9098852-Alternative-T;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Variant G tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtga ACGAGCGTCTGA CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAacgagcgtctgaAGATCGAGACCCGACGC chr20:9098852-Variant-G;Patient-64 chr20:9098852-AG DeNovo Patient-64 intronic PLCB4 0.000143 0.00016 0.01 2.8 0 PLCB4 49150 Variant G tggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtga GCGAAGATGACG CGACGCGGTCTCTCTCTtggtgcgctgcacccactaactcgtcatctagcattaggtatatctcccaGtgctatccctcccccctccccccaccccaccacagtccccagagtgtgaAGAGGGAGACGGACGTCTCAATAAgcgaagatgacgAGATCGAGACCCGACGC chr20:9098852-Variant-G;Patient-64 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative G ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CGCGGCTTGATA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAcgcggcttgataAGATCGAGACCCGACGC chr20:9136568-Alternative-G;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative G ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagcca ATAGGACTCGAA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAataggactcgaaAGATCGAGACCCGACGC chr20:9136568-Alternative-G;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative G ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CACATACTATGG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAcacatactatggAGATCGAGACCCGACGC chr20:9136568-Alternative-G;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Variant T ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GCATTCGGTCCT CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAgcattcggtcctAGATCGAGACCCGACGC chr20:9136568-Variant-T;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative G ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CGTGGAACGGAT CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAcgtggaacggatAGATCGAGACCCGACGC chr20:9136568-Alternative-G;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative G ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagcca AATATGCGACAG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataGagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAaatatgcgacagAGATCGAGACCCGACGC chr20:9136568-Alternative-G;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Variant T ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CAAGGTTAGCTA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAcaaggttagctaAGATCGAGACCCGACGC chr20:9136568-Variant-T;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Variant T ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GGTGAACCTTCG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAggtgaaccttcgAGATCGAGACCCGACGC chr20:9136568-Variant-T;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Variant T ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CTCGCTTGTGCA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAActcgcttgtgcaAGATCGAGACCCGACGC chr20:9136568-Variant-T;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Variant T ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagcca ATTATCCTGCCG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataTagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAattatcctgccgAGATCGAGACCCGACGC chr20:9136568-Variant-T;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative A ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CTTGAGTCGGCA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAActtgagtcggcaAGATCGAGACCCGACGC chr20:9136568-Alternative-A;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative A ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagcca ACAACGCGAATA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAacaacgcgaataAGATCGAGACCCGACGC chr20:9136568-Alternative-A;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative A ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GCCGTAGTAAGG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAgccgtagtaaggAGATCGAGACCCGACGC chr20:9136568-Alternative-A;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative A ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GGCGATATCGTC CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAggcgatatcgtcAGATCGAGACCCGACGC chr20:9136568-Alternative-A;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Alternative A ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagcca ATAGCACGGATA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataAagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAatagcacggataAGATCGAGACCCGACGC chr20:9136568-Alternative-A;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Reference C ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagcca AACGATCACGAA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAaacgatcacgaaAGATCGAGACCCGACGC chr20:9136568-Reference-C;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Reference C ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GCGATAGGACGT CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAgcgataggacgtAGATCGAGACCCGACGC chr20:9136568-Reference-C;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Reference C ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagcca CGTATCCATTCA CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAcgtatccattcaAGATCGAGACCCGACGC chr20:9136568-Reference-C;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Reference C ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagcca GAGATACACCGG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAgagatacaccggAGATCGAGACCCGACGC chr20:9136568-Reference-C;Patient-37 chr20:9136568-CT Inherited Patient-37 intronic PLCB4 0.000382 0.000958466 0.05 3.47 1.36 PLCB4 86866 Reference C ttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagcca AGGCGATTGCAG CGACGCGGTCTCTCTCTttctcacttttttttgtgtgtgcctccagaacacacaagacaagtaaataCagtatggacaataagttacgagtgaggagagagtgttttgagacagccaAGAGGGAGACGGACGTCTCAATAAaggcgattgcagAGATCGAGACCCGACGC chr20:9136568-Reference-C;Patient-37 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative C tatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc ACATGTCGACGT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAacatgtcgacgtAGATCGAGACCCGACGC chr20:9894674-Alternative-C;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative C tatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AGGTTGGATATC CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAaggttggatatcAGATCGAGACCCGACGC chr20:9894674-Alternative-C;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Reference G tatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AAGGCTCATCAA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAaaggctcatcaaAGATCGAGACCCGACGC chr20:9894674-Reference-G;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative T tatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc CGGATATTGGAT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAcggatattggatAGATCGAGACCCGACGC chr20:9894674-Alternative-T;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative T tatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GTTGGTGTGATT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAgttggtgtgattAGATCGAGACCCGACGC chr20:9894674-Alternative-T;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Reference G tatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc CGGCAGGTAACT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAcggcaggtaactAGATCGAGACCCGACGC chr20:9894674-Reference-G;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative T tatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GTCGCTTCACGT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAgtcgcttcacgtAGATCGAGACCCGACGC chr20:9894674-Alternative-T;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Reference G tatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GTTGGATTGAGA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAgttggattgagaAGATCGAGACCCGACGC chr20:9894674-Reference-G;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative T tatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GGAGTACCACGT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAggagtaccacgtAGATCGAGACCCGACGC chr20:9894674-Alternative-T;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative C tatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AGCACGATCACG CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAagcacgatcacgAGATCGAGACCCGACGC chr20:9894674-Alternative-C;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative C tatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc CAGGCTTAACCA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAcaggcttaaccaAGATCGAGACCCGACGC chr20:9894674-Alternative-C;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Reference G tatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GGTACGTACATT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAggtacgtacattAGATCGAGACCCGACGC chr20:9894674-Reference-G;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative T tatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AGTTCCATAGCA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatTagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAagttccatagcaAGATCGAGACCCGACGC chr20:9894674-Alternative-T;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Reference G tatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GGCCGGCTAATA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatGagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAggccggctaataAGATCGAGACCCGACGC chr20:9894674-Reference-G;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Variant A tatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc ACAGACGCCGTT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAacagacgccgttAGATCGAGACCCGACGC chr20:9894674-Variant-A;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Variant A tatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AGTAGTGTAGGT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAagtagtgtaggtAGATCGAGACCCGACGC chr20:9894674-Variant-A;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Variant A tatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc CGTACAATTGGT CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAcgtacaattggtAGATCGAGACCCGACGC chr20:9894674-Variant-A;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Variant A tatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc AGGACGTCTTCG CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAaggacgtcttcgAGATCGAGACCCGACGC chr20:9894674-Variant-A;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Alternative C tatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GACGTCAACTTA CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatCagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAgacgtcaacttaAGATCGAGACCCGACGC chr20:9894674-Alternative-C;Patient-71 chr20:9894674-GA DeNovo Patient-71 intergenic 0.000223 0.00154 0.12 4.58 0.23 PAK5 74986 Variant A tatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcaccc GTCTAGTAAGTC CGACGCGGTCTCTCTCTtatattttttttccataacttatttgggtacaggtggtatttggttacatAagtaagtcatttagtggtgatttgtgagatttttgtgctcccatcacccAGAGGGAGACGGACGTCTCAATAAgtctagtaagtcAGATCGAGACCCGACGC chr20:9894674-Variant-A;Patient-71 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative T tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACCGCAATCGAC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAaccgcaatcgacAGATCGAGACCCGACGC chr20:995104-Alternative-T;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative G tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt AGCAAGATGCAG CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAagcaagatgcagAGATCGAGACCCGACGC chr20:995104-Alternative-G;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative T tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACGATCTGTGAT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAacgatctgtgatAGATCGAGACCCGACGC chr20:995104-Alternative-T;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative G tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt GTGATCCATAGT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAgtgatccatagtAGATCGAGACCCGACGC chr20:995104-Alternative-G;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative G tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt CTATGTCACCGC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAActatgtcaccgcAGATCGAGACCCGACGC chr20:995104-Alternative-G;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Variant A tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACTCCTTCGCAG CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAactccttcgcagAGATCGAGACCCGACGC chr20:995104-Variant-A;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative G tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt CTAAGATTGTCG CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAActaagattgtcgAGATCGAGACCCGACGC chr20:995104-Alternative-G;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative T tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACAGCGAATCAA CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAacagcgaatcaaAGATCGAGACCCGACGC chr20:995104-Alternative-T;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Variant A tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctcctt AGTGAATCTCGT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAagtgaatctcgtAGATCGAGACCCGACGC chr20:995104-Variant-A;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative G tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt CTTAGAGTGTGA CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatGcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAActtagagtgtgaAGATCGAGACCCGACGC chr20:995104-Alternative-G;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative T tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt AGCTACCAAGCG CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAagctaccaagcgAGATCGAGACCCGACGC chr20:995104-Alternative-T;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Variant A tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctcctt GACGAGAGTAGG CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAgacgagagtaggAGATCGAGACCCGACGC chr20:995104-Variant-A;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Alternative T tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt CGCACCTAACTA CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatTcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAcgcacctaactaAGATCGAGACCCGACGC chr20:995104-Alternative-T;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Variant A tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctcctt ATACTATCCGGT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAatactatccggtAGATCGAGACCCGACGC chr20:995104-Variant-A;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Reference C tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACGCGTCGTATC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAacgcgtcgtatcAGATCGAGACCCGACGC chr20:995104-Reference-C;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Reference C tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ATCGCTATACGC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAatcgctatacgcAGATCGAGACCCGACGC chr20:995104-Reference-C;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Variant A tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctcctt GTAGTCAGTACC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatActtcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAgtagtcagtaccAGATCGAGACCCGACGC chr20:995104-Variant-A;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Reference C tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt ACCGACGGTATC CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAaccgacggtatcAGATCGAGACCCGACGC chr20:995104-Reference-C;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Reference C tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt CGGACTACGGTT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAcggactacggttAGATCGAGACCCGACGC chr20:995104-Reference-C;Patient-55 chr20:995104-CA DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.25 0.52 -3.26 ANGPT4 98143 Reference C tgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctcctt AGTCGAGCGCAT CGACGCGGTCTCTCTCTtgtcacctcctcaaagaggccttccctgaccatgcgatggaaactcccatCcttcaccactacgcttggcttagccctcttagctttgcttcctctccttAGAGGGAGACGGACGTCTCAATAAagtcgagcgcatAGATCGAGACCCGACGC chr20:995104-Reference-C;Patient-55 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Variant T gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CTATGATCGGCA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAActatgatcggcaAGATCGAGACCCGACGC chr21:16511126-Variant-T;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative A gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CGGATAGCGACT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAcggatagcgactAGATCGAGACCCGACGC chr21:16511126-Alternative-A;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Variant T gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc ACCGTATGCCGT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAaccgtatgccgtAGATCGAGACCCGACGC chr21:16511126-Variant-T;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Variant T gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GAATGGATGGAA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgaatggatggaaAGATCGAGACCCGACGC chr21:16511126-Variant-T;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative A gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GAGTATGTGCTT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgagtatgtgcttAGATCGAGACCCGACGC chr21:16511126-Alternative-A;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative A gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GCGGATAATACT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgcggataatactAGATCGAGACCCGACGC chr21:16511126-Alternative-A;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative A gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc AGGCCGTATGAG CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAaggccgtatgagAGATCGAGACCCGACGC chr21:16511126-Alternative-A;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative G gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CTATTGTACGTC CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAActattgtacgtcAGATCGAGACCCGACGC chr21:16511126-Alternative-G;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative A gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GAATCGAAGCCA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaAgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgaatcgaagccaAGATCGAGACCCGACGC chr21:16511126-Alternative-A;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative G gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GATAATCGCGTT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgataatcgcgttAGATCGAGACCCGACGC chr21:16511126-Alternative-G;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative G gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CGAGTACCGGAT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAcgagtaccggatAGATCGAGACCCGACGC chr21:16511126-Alternative-G;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Reference C gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GTACCGATTGCG CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAgtaccgattgcgAGATCGAGACCCGACGC chr21:16511126-Reference-C;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative G gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc GGAACGCAATCG CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAggaacgcaatcgAGATCGAGACCCGACGC chr21:16511126-Alternative-G;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Reference C gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CTAGCGAAGGCA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAActagcgaaggcaAGATCGAGACCCGACGC chr21:16511126-Reference-C;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Alternative G gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc AGAGCACAAGTT CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaGgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAagagcacaagttAGATCGAGACCCGACGC chr21:16511126-Alternative-G;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Variant T gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc AACTACCGTAGA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAaactaccgtagaAGATCGAGACCCGACGC chr21:16511126-Variant-T;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Reference C gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc AAGCATAGTGCA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAaagcatagtgcaAGATCGAGACCCGACGC chr21:16511126-Reference-C;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Reference C gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CTGTGTTAACAC CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAActgtgttaacacAGATCGAGACCCGACGC chr21:16511126-Reference-C;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Variant T gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc CGACGGCTCTAA CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaTgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAcgacggctctaaAGATCGAGACCCGACGC chr21:16511126-Variant-T;Patient-79 chr21:16511126-CT DeNovo Patient-79 intergenic 3.2e-05 0.000512821 0.06 3.65 0 NRIP1 73999 Reference C gaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggc AAGTACGCGTCG CGACGCGGTCTCTCTCTgaggaaagcaggaagcaagaagactgttgcgggaagagccaaaagtgcaaCgtttcagtaccaaaaagatcgttggcacagaaacaatgaaatgcatggcAGAGGGAGACGGACGTCTCAATAAaagtacgcgtcgAGATCGAGACCCGACGC chr21:16511126-Reference-C;Patient-79 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative T atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CATTCATCGGTT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcattcatcggttAGATCGAGACCCGACGC chr21:28248454-Alternative-T;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Variant G atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CAATTAGCGGCA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcaattagcggcaAGATCGAGACCCGACGC chr21:28248454-Variant-G;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative T atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ACACTGTCGCGT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAacactgtcgcgtAGATCGAGACCCGACGC chr21:28248454-Alternative-T;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative C atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ATAGCTCTGACT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAatagctctgactAGATCGAGACCCGACGC chr21:28248454-Alternative-C;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative T atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt GGAATGGACGAG CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAggaatggacgagAGATCGAGACCCGACGC chr21:28248454-Alternative-T;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Reference A atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ACAACGTGACTT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAacaacgtgacttAGATCGAGACCCGACGC chr21:28248454-Reference-A;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Variant G atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ATATAGGCCAAC CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAatataggccaacAGATCGAGACCCGACGC chr21:28248454-Variant-G;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative T atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ACTAGATTGTGC CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAactagattgtgcAGATCGAGACCCGACGC chr21:28248454-Alternative-T;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative C atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt AATCTCCGACGA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAaatctccgacgaAGATCGAGACCCGACGC chr21:28248454-Alternative-C;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative T atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CATATACACGGT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacTcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcatatacacggtAGATCGAGACCCGACGC chr21:28248454-Alternative-T;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Variant G atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CGTATCCGGCTA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcgtatccggctaAGATCGAGACCCGACGC chr21:28248454-Variant-G;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Reference A atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CAGTTCCAACTT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcagttccaacttAGATCGAGACCCGACGC chr21:28248454-Reference-A;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Variant G atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt GTATCGTTCGTT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAgtatcgttcgttAGATCGAGACCCGACGC chr21:28248454-Variant-G;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Reference A atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CGATAGTGTGGT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcgatagtgtggtAGATCGAGACCCGACGC chr21:28248454-Reference-A;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Reference A atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CGTGCGGCTTAA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcgtgcggcttaaAGATCGAGACCCGACGC chr21:28248454-Reference-A;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Variant G atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CTTGACCACGTC CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacGcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAActtgaccacgtcAGATCGAGACCCGACGC chr21:28248454-Variant-G;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative C atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt GGACCTATCGAA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAggacctatcgaaAGATCGAGACCCGACGC chr21:28248454-Alternative-C;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative C atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt AGTACGGCCAAT CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAagtacggccaatAGATCGAGACCCGACGC chr21:28248454-Alternative-C;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Alternative C atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt ACTACAAGCCAA CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacCcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAactacaagccaaAGATCGAGACCCGACGC chr21:28248454-Alternative-C;Patient-109 chr21:28248454-AG DeNovo Patient-109 intergenic NA 3.84e-05 0.27 6.8 0.67 ADAMTS5 90984 Reference A atgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgt CAAGATGGTAAC CGACGCGGTCTCTCTCTatgtttcatcacggaaatgtctgggcatccctcaacccagtcacgttcacAcataaaattaaccagtgcgggatgaaaaagaagtctagttgctaggtgtAGAGGGAGACGGACGTCTCAATAAcaagatggtaacAGATCGAGACCCGACGC chr21:28248454-Reference-A;Patient-109 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative C ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa CGTCTTCGATAT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAcgtcttcgatatAGATCGAGACCCGACGC chr21:28356717-Alternative-C;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Variant A ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa AAGACCGTATGA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAaagaccgtatgaAGATCGAGACCCGACGC chr21:28356717-Variant-A;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative G ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa CGAACTATGTTC CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAcgaactatgttcAGATCGAGACCCGACGC chr21:28356717-Alternative-G;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative G ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa CACGGATGCACA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAcacggatgcacaAGATCGAGACCCGACGC chr21:28356717-Alternative-G;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative G ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GGAACGAGTCAC CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAggaacgagtcacAGATCGAGACCCGACGC chr21:28356717-Alternative-G;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative C ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa CGGAATTCTAGT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAcggaattctagtAGATCGAGACCCGACGC chr21:28356717-Alternative-C;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Reference T ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GGACGCGACTAA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAggacgcgactaaAGATCGAGACCCGACGC chr21:28356717-Reference-T;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative G ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa AGGTTGTTCCAA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAaggttgttccaaAGATCGAGACCCGACGC chr21:28356717-Alternative-G;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative C ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa ACAGAGATAGTC CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAacagagatagtcAGATCGAGACCCGACGC chr21:28356717-Alternative-C;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative C ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GGTGCGTCTGAA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAggtgcgtctgaaAGATCGAGACCCGACGC chr21:28356717-Alternative-C;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Variant A ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GACGGTATCAGT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAgacggtatcagtAGATCGAGACCCGACGC chr21:28356717-Variant-A;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Reference T ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GGCTAAGCAGCA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAggctaagcagcaAGATCGAGACCCGACGC chr21:28356717-Reference-T;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Reference T ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa AGTCTATCCTAC CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAagtctatcctacAGATCGAGACCCGACGC chr21:28356717-Reference-T;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Reference T ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GCAAGGCAAGCT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAgcaaggcaagctAGATCGAGACCCGACGC chr21:28356717-Reference-T;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Variant A ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa AAGCGGTCAATA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAaagcggtcaataAGATCGAGACCCGACGC chr21:28356717-Variant-A;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative C ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa GATGCGTCGAAC CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaCtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAgatgcgtcgaacAGATCGAGACCCGACGC chr21:28356717-Alternative-C;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Variant A ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa CGATTGAGTCAT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAcgattgagtcatAGATCGAGACCCGACGC chr21:28356717-Variant-A;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Variant A ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa ACGTGCTCAAGT CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaAtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAacgtgctcaagtAGATCGAGACCCGACGC chr21:28356717-Variant-A;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Alternative G ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa ATTGTCCGCGCA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaGtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAattgtccgcgcaAGATCGAGACCCGACGC chr21:28356717-Alternative-G;Patient-23 chr21:28356717-TA DeNovo Patient-23 intergenic NA 0.000513 0.11 4.51 0.58 ADAMTS5 17277 Reference T ctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaa ATATAGCTGCCA CGACGCGGTCTCTCTCTctttgaaactgccctcatcaaggacaactcttaattctgatagggtatcaTtctgaggtgtgagtgggctgtattttgagttcagcttactgttcaccaaAGAGGGAGACGGACGTCTCAATAAatatagctgccaAGATCGAGACCCGACGC chr21:28356717-Reference-T;Patient-23 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative G agaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GGTCGCAATCGT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAggtcgcaatcgtAGATCGAGACCCGACGC chr21:28382361-Alternative-G;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Reference T agaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa AACGGCACACCA CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAaacggcacaccaAGATCGAGACCCGACGC chr21:28382361-Reference-T;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Reference T agaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GCGATAATGGAA CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgcgataatggaaAGATCGAGACCCGACGC chr21:28382361-Reference-T;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative C agaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GATAATAAGCGG CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgataataagcggAGATCGAGACCCGACGC chr21:28382361-Alternative-C;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Reference T agaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GTACGCTATAAG CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgtacgctataagAGATCGAGACCCGACGC chr21:28382361-Reference-T;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Reference T agaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GATAGTTACGCT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgatagttacgctAGATCGAGACCCGACGC chr21:28382361-Reference-T;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative C agaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GACGCTATGTCG CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgacgctatgtcgAGATCGAGACCCGACGC chr21:28382361-Alternative-C;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Variant A agaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GTACGTTGACCA CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgtacgttgaccaAGATCGAGACCCGACGC chr21:28382361-Variant-A;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative G agaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CAATGCTACCTT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAcaatgctaccttAGATCGAGACCCGACGC chr21:28382361-Alternative-G;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Variant A agaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GAGTTACGCCAC CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgagttacgccacAGATCGAGACCCGACGC chr21:28382361-Variant-A;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Variant A agaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa ACTGCTATTAGG CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAactgctattaggAGATCGAGACCCGACGC chr21:28382361-Variant-A;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative C agaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GTAGAACGACAT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgtagaacgacatAGATCGAGACCCGACGC chr21:28382361-Alternative-C;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Reference T agaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CAGCTTCCTGAC CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattTaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAcagcttcctgacAGATCGAGACCCGACGC chr21:28382361-Reference-T;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative C agaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CAACGCAACAAC CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAcaacgcaacaacAGATCGAGACCCGACGC chr21:28382361-Alternative-C;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Variant A agaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GCAACATGTGAA CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgcaacatgtgaaAGATCGAGACCCGACGC chr21:28382361-Variant-A;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative C agaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CTAGTCGCACAG CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattCaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAActagtcgcacagAGATCGAGACCCGACGC chr21:28382361-Alternative-C;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Variant A agaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CAGGTGTTATGT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattAaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAcaggtgttatgtAGATCGAGACCCGACGC chr21:28382361-Variant-A;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative G agaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa ACTGCGCCAATC CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAactgcgccaatcAGATCGAGACCCGACGC chr21:28382361-Alternative-G;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative G agaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa CGCGATTCTCGT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAcgcgattctcgtAGATCGAGACCCGACGC chr21:28382361-Alternative-G;Patient-3 chr21:28382361-TA DeNovo Patient-3 intergenic NA 0.000513 0.18 5.5 1.62 ADAMTS5 42921 Alternative G agaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaa GAGATGTGCCGT CGACGCGGTCTCTCTCTagaggaaactttaaaatcttagaatcatataataaaatacattgaatattGaatgccagggaaatgcaaattaaaatgacgtatacatttgtatatctaaAGAGGGAGACGGACGTCTCAATAAgagatgtgccgtAGATCGAGACCCGACGC chr21:28382361-Alternative-G;Patient-3 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Reference T gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc GGTGATTCACAT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAggtgattcacatAGATCGAGACCCGACGC chr21:30270751-Reference-T;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Reference T gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CGCGCATTCCTA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAcgcgcattcctaAGATCGAGACCCGACGC chr21:30270751-Reference-T;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Variant G gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CTCGTGTACGAA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAActcgtgtacgaaAGATCGAGACCCGACGC chr21:30270751-Variant-G;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Reference T gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc AGATCAAGGCTT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAagatcaaggcttAGATCGAGACCCGACGC chr21:30270751-Reference-T;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Variant G gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc ACGTCCAAGCAT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAacgtccaagcatAGATCGAGACCCGACGC chr21:30270751-Variant-G;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Variant G gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CAACGACTGCGT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAcaacgactgcgtAGATCGAGACCCGACGC chr21:30270751-Variant-G;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Reference T gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CAACGAACGAGA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAcaacgaacgagaAGATCGAGACCCGACGC chr21:30270751-Reference-T;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Variant G gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc GATACGGATAGT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAgatacggatagtAGATCGAGACCCGACGC chr21:30270751-Variant-G;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Reference T gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc ACTCTGGCGCTA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccTtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAactctggcgctaAGATCGAGACCCGACGC chr21:30270751-Reference-T;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative A gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc GGACCGGATAAC CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAggaccggataacAGATCGAGACCCGACGC chr21:30270751-Alternative-A;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative C gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc ACGTCAGACCTA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAacgtcagacctaAGATCGAGACCCGACGC chr21:30270751-Alternative-C;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Variant G gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc GCGTAACGAATC CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccGtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAgcgtaacgaatcAGATCGAGACCCGACGC chr21:30270751-Variant-G;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative A gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CGGATGCAGCTA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAcggatgcagctaAGATCGAGACCCGACGC chr21:30270751-Alternative-A;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative A gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CGTAAGCTTAGT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAcgtaagcttagtAGATCGAGACCCGACGC chr21:30270751-Alternative-A;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative C gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc GGACGACACCTT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAggacgacaccttAGATCGAGACCCGACGC chr21:30270751-Alternative-C;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative C gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc ACTTCAGCGTGC CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAacttcagcgtgcAGATCGAGACCCGACGC chr21:30270751-Alternative-C;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative A gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc CTACGAGCACGA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAActacgagcacgaAGATCGAGACCCGACGC chr21:30270751-Alternative-A;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative A gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc AGTGTTGGATGA CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccAtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAagtgttggatgaAGATCGAGACCCGACGC chr21:30270751-Alternative-A;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative C gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc AGGCCAATACTT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAaggccaatacttAGATCGAGACCCGACGC chr21:30270751-Alternative-C;Patient-81 chr21:30270751-TG DeNovo Patient-81 intergenic 3.2e-05 0.00103 0.14 4.94 0.69 LTN1 94525 Alternative C gcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggc ATCCGTGGACGT CGACGCGGTCTCTCTCTgcaattaaaagcaaattataaaatcaaaatatttccgtagagtggcagccCtcacaaagtaaaaacaacttcgttccacagaattgtatgttctgtaggcAGAGGGAGACGGACGTCTCAATAAatccgtggacgtAGATCGAGACCCGACGC chr21:30270751-Alternative-C;Patient-81 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative A cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GATATCCTAGGT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgatatcctaggtAGATCGAGACCCGACGC chr21:31246962-Alternative-A;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Variant C cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt CGACAACGCAGA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAcgacaacgcagaAGATCGAGACCCGACGC chr21:31246962-Variant-C;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Variant C cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt CGGTGTTACGCT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAcggtgttacgctAGATCGAGACCCGACGC chr21:31246962-Variant-C;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Variant C cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt ACGACGCATCCA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAacgacgcatccaAGATCGAGACCCGACGC chr21:31246962-Variant-C;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative G cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt AGATAACGCGAG CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAagataacgcgagAGATCGAGACCCGACGC chr21:31246962-Alternative-G;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative G cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt ACGCTCAACAAT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAacgctcaacaatAGATCGAGACCCGACGC chr21:31246962-Alternative-G;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative A cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GTCAATCGATGA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgtcaatcgatgaAGATCGAGACCCGACGC chr21:31246962-Alternative-A;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative A cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt ACTAGTAACGCT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAactagtaacgctAGATCGAGACCCGACGC chr21:31246962-Alternative-A;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative G cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt CTAATAAGGCCA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAActaataaggccaAGATCGAGACCCGACGC chr21:31246962-Alternative-G;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative G cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GTATAGCAGCTT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgtatagcagcttAGATCGAGACCCGACGC chr21:31246962-Alternative-G;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Reference T cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GGTAGTCAGTTA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAggtagtcagttaAGATCGAGACCCGACGC chr21:31246962-Reference-T;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative A cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt CGCCTACATCAA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAcgcctacatcaaAGATCGAGACCCGACGC chr21:31246962-Alternative-A;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Variant C cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GATCATGTAAGG CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgatcatgtaaggAGATCGAGACCCGACGC chr21:31246962-Variant-C;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative A cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GAATAAGATCGG CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaAtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgaataagatcggAGATCGAGACCCGACGC chr21:31246962-Alternative-A;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Reference T cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt AGCGGATAATGA CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAagcggataatgaAGATCGAGACCCGACGC chr21:31246962-Reference-T;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Variant C cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GATGAGTGTGAT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaCtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgatgagtgtgatAGATCGAGACCCGACGC chr21:31246962-Variant-C;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Reference T cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt GTTGATCACGAT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAgttgatcacgatAGATCGAGACCCGACGC chr21:31246962-Reference-T;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Reference T cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt CGTAACGAGTAT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAcgtaacgagtatAGATCGAGACCCGACGC chr21:31246962-Reference-T;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Alternative G cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt ATCGGTGACGCT CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaGtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAatcggtgacgctAGATCGAGACCCGACGC chr21:31246962-Alternative-G;Patient-70 chr21:31246962-TC Inherited Patient-70 intronic GRIK1 0.000191 9.9e-05 0.08 3.98 0.91 GRIK1 65319 Reference T cgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagtt ATCAACGCGCAG CGACGCGGTCTCTCTCTcgtactggtttatggcccaggggttgggacccctgttttaggagcatgtaTtaatataacatgatttgggtgggagagaatagagtatggacaaccagttAGAGGGAGACGGACGTCTCAATAAatcaacgcgcagAGATCGAGACCCGACGC chr21:31246962-Reference-T;Patient-70 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative G ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GCCGATATCGGT CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgccgatatcggtAGATCGAGACCCGACGC chr21:31331496-Alternative-G;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative G ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GTGATAACGTGA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgtgataacgtgaAGATCGAGACCCGACGC chr21:31331496-Alternative-G;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Reference C ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GCGAATAGTCAA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgcgaatagtcaaAGATCGAGACCCGACGC chr21:31331496-Reference-C;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative G ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat CTATAGCTATCG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAActatagctatcgAGATCGAGACCCGACGC chr21:31331496-Alternative-G;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative G ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GCGGTTCTGTCA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgcggttctgtcaAGATCGAGACCCGACGC chr21:31331496-Alternative-G;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Reference C ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat AATGCGGTGTTA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAaatgcggtgttaAGATCGAGACCCGACGC chr21:31331496-Reference-C;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Variant T ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat CGATCGCAGAAG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAcgatcgcagaagAGATCGAGACCCGACGC chr21:31331496-Variant-T;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Variant T ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat ACGATTCGCTAA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAacgattcgctaaAGATCGAGACCCGACGC chr21:31331496-Variant-T;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Reference C ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat ACCGTCTACGAG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAaccgtctacgagAGATCGAGACCCGACGC chr21:31331496-Reference-C;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative G ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GTTCGCATAACA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttGacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgttcgcataacaAGATCGAGACCCGACGC chr21:31331496-Alternative-G;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative A ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GGTTGCTGAACC CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAggttgctgaaccAGATCGAGACCCGACGC chr21:31331496-Alternative-A;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Reference C ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat ACAACTCATACG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAacaactcatacgAGATCGAGACCCGACGC chr21:31331496-Reference-C;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Variant T ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat ATACTTCAGCGA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAatacttcagcgaAGATCGAGACCCGACGC chr21:31331496-Variant-T;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Variant T ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat ATCTCGATGAGA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAatctcgatgagaAGATCGAGACCCGACGC chr21:31331496-Variant-T;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Variant T ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GCATAAGTGACA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttTacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgcataagtgacaAGATCGAGACCCGACGC chr21:31331496-Variant-T;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Reference C ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GCATGCTCTAAT CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttCacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgcatgctctaatAGATCGAGACCCGACGC chr21:31331496-Reference-C;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative A ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat CGGAATAATGAG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAcggaataatgagAGATCGAGACCCGACGC chr21:31331496-Alternative-A;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative A ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat AATAGTACGACG CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAaatagtacgacgAGATCGAGACCCGACGC chr21:31331496-Alternative-A;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative A ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat GTACCTAGTCGC CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAgtacctagtcgcAGATCGAGACCCGACGC chr21:31331496-Alternative-A;Patient-83 chr21:31331496-CT DeNovo Patient-83 intergenic NA 0.000513 0.09 4.16 2.18 GRIK1 19213 Alternative A ctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaat CGAAGAGTAGAA CGACGCGGTCTCTCTCTctattatgaccaaagtttgggtattttcattttacctcagaaaatggtttAacataccatgacgcctcagagaaatagttcatatgagatctctgaaaatAGAGGGAGACGGACGTCTCAATAAcgaagagtagaaAGATCGAGACCCGACGC chr21:31331496-Alternative-A;Patient-83 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Reference G gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgt ACTGTCGGACCT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAactgtcggacctAGATCGAGACCCGACGC chr21:31387733-Reference-G;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Reference G gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgt GTGTAGGTTCAT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgtgtaggttcatAGATCGAGACCCGACGC chr21:31387733-Reference-G;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Reference G gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgt CGATGAGTACCA CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcgatgagtaccaAGATCGAGACCCGACGC chr21:31387733-Reference-G;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative C gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgt CAATAGCTCTGT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcaatagctctgtAGATCGAGACCCGACGC chr21:31387733-Alternative-C;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative C gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgt AGGTTCGAACGG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAaggttcgaacggAGATCGAGACCCGACGC chr21:31387733-Alternative-C;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative C gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgt CGGTCATTAGAT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcggtcattagatAGATCGAGACCCGACGC chr21:31387733-Alternative-C;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative C gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgt GACGGTGATAAG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgacggtgataagAGATCGAGACCCGACGC chr21:31387733-Alternative-C;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative C gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgt GCCGCTTCTTGA CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataCttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgccgcttcttgaAGATCGAGACCCGACGC chr21:31387733-Alternative-C;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative A gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgt GTTGGATCGGAG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgttggatcggagAGATCGAGACCCGACGC chr21:31387733-Alternative-A;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative A gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgt AATGTGCGCTAT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAaatgtgcgctatAGATCGAGACCCGACGC chr21:31387733-Alternative-A;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative A gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgt CTTGCACGTCGT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAActtgcacgtcgtAGATCGAGACCCGACGC chr21:31387733-Alternative-A;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative A gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgt CAGTCGTTGACG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcagtcgttgacgAGATCGAGACCCGACGC chr21:31387733-Alternative-A;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Alternative A gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgt GAATATGTGGAC CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataAttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgaatatgtggacAGATCGAGACCCGACGC chr21:31387733-Alternative-A;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Variant T gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgt AGAACCTTGGCG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAagaaccttggcgAGATCGAGACCCGACGC chr21:31387733-Variant-T;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Variant T gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgt GGTAATTCGGCG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAggtaattcggcgAGATCGAGACCCGACGC chr21:31387733-Variant-T;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Variant T gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgt GCAGTCGGATGA CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAgcagtcggatgaAGATCGAGACCCGACGC chr21:31387733-Variant-T;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Variant T gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgt CGAGCCACTATC CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcgagccactatcAGATCGAGACCCGACGC chr21:31387733-Variant-T;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Variant T gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgt CGCTTGCGAACT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataTttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAcgcttgcgaactAGATCGAGACCCGACGC chr21:31387733-Variant-T;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Reference G gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgt AAGATAAGGTGG CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAaagataaggtggAGATCGAGACCCGACGC chr21:31387733-Reference-G;Patient-30 chr21:31387733-GT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA GRIK1 75450 Reference G gaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgt ACGATCTGTCTT CGACGCGGTCTCTCTCTgaagaacattgtgcctataattattagcttaggaaaatgtaaaagaaataGttttcaatttttcaattactgaattattggcagctgatgacaataatgtAGAGGGAGACGGACGTCTCAATAAacgatctgtcttAGATCGAGACCCGACGC chr21:31387733-Reference-G;Patient-30 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative C tgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgct GTGCTATAGCGA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAgtgctatagcgaAGATCGAGACCCGACGC chr21:31552158-Alternative-C;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Reference G tgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgct AATAGTCCGGTT CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAaatagtccggttAGATCGAGACCCGACGC chr21:31552158-Reference-G;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative C tgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgct AGTAGCGCGAAG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAagtagcgcgaagAGATCGAGACCCGACGC chr21:31552158-Alternative-C;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Reference G tgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgct AATAGTATCCGG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAaatagtatccggAGATCGAGACCCGACGC chr21:31552158-Reference-G;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Reference G tgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgct GTTCATGCGTGG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAgttcatgcgtggAGATCGAGACCCGACGC chr21:31552158-Reference-G;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Reference G tgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgct ATCGATACGTCA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAatcgatacgtcaAGATCGAGACCCGACGC chr21:31552158-Reference-G;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative C tgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgct ATTCTTAGGACG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAattcttaggacgAGATCGAGACCCGACGC chr21:31552158-Alternative-C;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Reference G tgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgct CTACGTCGTCCA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcGcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAActacgtcgtccaAGATCGAGACCCGACGC chr21:31552158-Reference-G;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative C tgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgct GGCCAATCGAAC CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAggccaatcgaacAGATCGAGACCCGACGC chr21:31552158-Alternative-C;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Variant A tgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgct ATAGGCCATAAG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAataggccataagAGATCGAGACCCGACGC chr21:31552158-Variant-A;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Variant A tgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgct GTCGATGTTAGT CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAgtcgatgttagtAGATCGAGACCCGACGC chr21:31552158-Variant-A;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Variant A tgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgct GATAGACTACGA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAgatagactacgaAGATCGAGACCCGACGC chr21:31552158-Variant-A;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative C tgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgct AGATCGGACAGT CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcCcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAagatcggacagtAGATCGAGACCCGACGC chr21:31552158-Alternative-C;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative T tgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgct AACTCGCAATCA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAaactcgcaatcaAGATCGAGACCCGACGC chr21:31552158-Alternative-T;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative T tgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgct CGGTATACGATA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAcggtatacgataAGATCGAGACCCGACGC chr21:31552158-Alternative-T;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Variant A tgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgct CGTCAACACCTT CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAcgtcaacaccttAGATCGAGACCCGACGC chr21:31552158-Variant-A;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Variant A tgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgct AACTAAGACCGA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcAcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAaactaagaccgaAGATCGAGACCCGACGC chr21:31552158-Variant-A;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative T tgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgct CAACGTCGGCAA CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAcaacgtcggcaaAGATCGAGACCCGACGC chr21:31552158-Alternative-T;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative T tgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgct CGTTCATCAACG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAcgttcatcaacgAGATCGAGACCCGACGC chr21:31552158-Alternative-T;Patient-79 chr21:31552158-GA DeNovo Patient-79 intergenic 0.00086 0.005128205 -0.41 0.17 -2.58 CLDN17 13186 Alternative T tgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgct CATCTATTGACG CGACGCGGTCTCTCTCTtgtctatcactttactctgctttatgtatttttaattacttatcactatcTcacattatataatcaacctatatgttgatttttaaattgtttttctgctAGAGGGAGACGGACGTCTCAATAAcatctattgacgAGATCGAGACCCGACGC chr21:31552158-Alternative-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative C cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AATAGCCTACAC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAaatagcctacacAGATCGAGACCCGACGC chr21:32976597-Alternative-C;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative C cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc ACTGCGTGTTCG CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAactgcgtgttcgAGATCGAGACCCGACGC chr21:32976597-Alternative-C;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative C cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AACGCAACGTCC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAaacgcaacgtccAGATCGAGACCCGACGC chr21:32976597-Alternative-C;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative C cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GGATGGTGACGT CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAggatggtgacgtAGATCGAGACCCGACGC chr21:32976597-Alternative-C;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative A cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GTAGTGTGATGA CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAgtagtgtgatgaAGATCGAGACCCGACGC chr21:32976597-Alternative-A;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative A cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc CACAGGTGACGA CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAcacaggtgacgaAGATCGAGACCCGACGC chr21:32976597-Alternative-A;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative A cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc ATTCCGTGGTGG CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAattccgtggtggAGATCGAGACCCGACGC chr21:32976597-Alternative-A;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative A cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GTCAGCTGATCG CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAgtcagctgatcgAGATCGAGACCCGACGC chr21:32976597-Alternative-A;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative A cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc ATTCCGTCAAGA CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcAgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAattccgtcaagaAGATCGAGACCCGACGC chr21:32976597-Alternative-A;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Reference T cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GGTCAGTAAGAA CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAggtcagtaagaaAGATCGAGACCCGACGC chr21:32976597-Reference-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Reference T cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GTCTATCGTATC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAgtctatcgtatcAGATCGAGACCCGACGC chr21:32976597-Reference-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Alternative C cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AATCGACTAGGT CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcCgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAaatcgactaggtAGATCGAGACCCGACGC chr21:32976597-Alternative-C;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Reference T cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GCAACGTTCGAC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAgcaacgttcgacAGATCGAGACCCGACGC chr21:32976597-Reference-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Variant G cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc CAACTCCGATCG CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAcaactccgatcgAGATCGAGACCCGACGC chr21:32976597-Variant-G;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Variant G cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GCGGTATACAAC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAgcggtatacaacAGATCGAGACCCGACGC chr21:32976597-Variant-G;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Variant G cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc GGTACGCATGCT CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAggtacgcatgctAGATCGAGACCCGACGC chr21:32976597-Variant-G;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Reference T cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AGCTGACGGTCT CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAagctgacggtctAGATCGAGACCCGACGC chr21:32976597-Reference-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Variant G cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AGAGTTAAGTCG CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAagagttaagtcgAGATCGAGACCCGACGC chr21:32976597-Variant-G;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Reference T cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc ACACGTTGTATC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcTgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAacacgttgtatcAGATCGAGACCCGACGC chr21:32976597-Reference-T;Patient-79 chr21:32976597-TG DeNovo Patient-79 intergenic NA 0.000513 -0.37 0.23 -0.34 TIAM1 45306 Variant G cctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagc AACTCGTGAATC CGACGCGGTCTCTCTCTcctggccaacatggtgaaactccatctctaccaaaaatacaaaaattagcGgggcatggtggtatgcgcttgtaattccagctactagggaggctaaagcAGAGGGAGACGGACGTCTCAATAAaactcgtgaatcAGATCGAGACCCGACGC chr21:32976597-Variant-G;Patient-79 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Reference A tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GTTGGCACAATT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgttggcacaattAGATCGAGACCCGACGC chr21:34041310-Reference-A;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Reference A tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CTCTCACTGCGT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAActctcactgcgtAGATCGAGACCCGACGC chr21:34041310-Reference-A;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Reference A tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GCCACTATTCTA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgccactattctaAGATCGAGACCCGACGC chr21:34041310-Reference-A;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Reference A tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga AGACCGACCAGT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAagaccgaccagtAGATCGAGACCCGACGC chr21:34041310-Reference-A;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Reference A tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga AGTTCTGCGACC CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaAatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAagttctgcgaccAGATCGAGACCCGACGC chr21:34041310-Reference-A;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative T tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga AGTTCTGTACGA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAagttctgtacgaAGATCGAGACCCGACGC chr21:34041310-Alternative-T;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Variant C tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GTTATTCGCTGT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgttattcgctgtAGATCGAGACCCGACGC chr21:34041310-Variant-C;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Variant C tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga ACTGCTTCTAAG CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAactgcttctaagAGATCGAGACCCGACGC chr21:34041310-Variant-C;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Variant C tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GTCTCGGATTAA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgtctcggattaaAGATCGAGACCCGACGC chr21:34041310-Variant-C;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Variant C tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga ACGTTATTCGTC CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAacgttattcgtcAGATCGAGACCCGACGC chr21:34041310-Variant-C;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Variant C tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GGTGTATCGTCG CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaCatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAggtgtatcgtcgAGATCGAGACCCGACGC chr21:34041310-Variant-C;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative T tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GCGAATCAGTTA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgcgaatcagttaAGATCGAGACCCGACGC chr21:34041310-Alternative-T;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative T tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga ACAAGATGCGCT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAacaagatgcgctAGATCGAGACCCGACGC chr21:34041310-Alternative-T;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative T tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga GCGACATCTATA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAgcgacatctataAGATCGAGACCCGACGC chr21:34041310-Alternative-T;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative T tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CGAGCAACTAGA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaTatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAcgagcaactagaAGATCGAGACCCGACGC chr21:34041310-Alternative-T;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative G tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga ACCTTAGAGTAC CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAaccttagagtacAGATCGAGACCCGACGC chr21:34041310-Alternative-G;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative G tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CTAAGGAGATAC CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAActaaggagatacAGATCGAGACCCGACGC chr21:34041310-Alternative-G;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative G tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CTAACGCCGCAA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAActaacgccgcaaAGATCGAGACCCGACGC chr21:34041310-Alternative-G;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative G tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CAGATACACCAT CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAAcagatacaccatAGATCGAGACCCGACGC chr21:34041310-Alternative-G;Patient-30 chr21:34041310-AC Inherited Patient-30 intronic SYNJ1 0.000637 9.9e-05 NA NA NA SYNJ1 59040 Alternative G tactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattga CTCTCGGAACGA CGACGCGGTCTCTCTCTtactagtcatcattacaatccccactgccatatacttgcaggaaaaaaaaGatgccacttcgcctaagaatgtccttgatgaagcaacagacattattgaAGAGGGAGACGGACGTCTCAATAActctcggaacgaAGATCGAGACCCGACGC chr21:34041310-Alternative-G;Patient-30 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Variant C tttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaa GTGTTGGCGCAA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAgtgttggcgcaaAGATCGAGACCCGACGC chr21:34470340-Variant-C;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Variant C tttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaa GATTGGACGTCG CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAgattggacgtcgAGATCGAGACCCGACGC chr21:34470340-Variant-C;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Variant C tttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaa GGCGAACACATC CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAggcgaacacatcAGATCGAGACCCGACGC chr21:34470340-Variant-C;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Reference A tttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaa AGCGTAAGTCGC CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAagcgtaagtcgcAGATCGAGACCCGACGC chr21:34470340-Reference-A;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative T tttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaa GTGAGCTACGCA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAgtgagctacgcaAGATCGAGACCCGACGC chr21:34470340-Alternative-T;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative G tttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaa GATTATTGGCGA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAgattattggcgaAGATCGAGACCCGACGC chr21:34470340-Alternative-G;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative T tttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaa AACACGTCGCCT CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAaacacgtcgcctAGATCGAGACCCGACGC chr21:34470340-Alternative-T;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Variant C tttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaa GTAGTCTCGTTA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAgtagtctcgttaAGATCGAGACCCGACGC chr21:34470340-Variant-C;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Variant C tttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaa AGGTATCGGCCA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacCattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAaggtatcggccaAGATCGAGACCCGACGC chr21:34470340-Variant-C;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Reference A tttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaa AATAGTTGAGCG CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAaatagttgagcgAGATCGAGACCCGACGC chr21:34470340-Reference-A;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Reference A tttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaa ACCTATCTCGAC CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAacctatctcgacAGATCGAGACCCGACGC chr21:34470340-Reference-A;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative T tttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaa ATTCGCGCGGTT CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAattcgcgcggttAGATCGAGACCCGACGC chr21:34470340-Alternative-T;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative G tttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaa CGTCCTAGTAAT CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAcgtcctagtaatAGATCGAGACCCGACGC chr21:34470340-Alternative-G;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Reference A tttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaa CGCGAATCGTGA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAcgcgaatcgtgaAGATCGAGACCCGACGC chr21:34470340-Reference-A;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Reference A tttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaa GGCTGAAGTCAA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacAattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAggctgaagtcaaAGATCGAGACCCGACGC chr21:34470340-Reference-A;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative T tttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaa CTCGGACTATAA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAActcggactataaAGATCGAGACCCGACGC chr21:34470340-Alternative-T;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative G tttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaa CGTACACGAGCT CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAcgtacacgagctAGATCGAGACCCGACGC chr21:34470340-Alternative-G;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative G tttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaa AGAAGAGCTAAG CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAagaagagctaagAGATCGAGACCCGACGC chr21:34470340-Alternative-G;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative G tttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaa ACTAGTACGTCA CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacGattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAactagtacgtcaAGATCGAGACCCGACGC chr21:34470340-Alternative-G;Patient-90 chr21:34470340-AC DeNovo Patient-90 intergenic NA 0.000513 -0.02 2.36 0.24 OLIG2 72123 Alternative T tttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaa AGTAAGCCGTGG CGACGCGGTCTCTCTCTtttattttttccttggtactaactgactttttttttttttttttttttacTattaacacaaattgcttttacaataaaatctctattttatttttttaaaAGAGGGAGACGGACGTCTCAATAAagtaagccgtggAGATCGAGACCCGACGC chr21:34470340-Alternative-T;Patient-90 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative C aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg ACGATGGACGCA CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAacgatggacgcaAGATCGAGACCCGACGC chr21:34571621-Alternative-C;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Variant A aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GGTTGTGCACGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAggttgtgcacgtAGATCGAGACCCGACGC chr21:34571621-Variant-A;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Variant A aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GTACTCGGACGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAgtactcggacgtAGATCGAGACCCGACGC chr21:34571621-Variant-A;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Variant A aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AAGTTGGAGCTA CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAaagttggagctaAGATCGAGACCCGACGC chr21:34571621-Variant-A;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative C aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GCGTCAAGAGCT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAgcgtcaagagctAGATCGAGACCCGACGC chr21:34571621-Alternative-C;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative C aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GTATTCGACAGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAgtattcgacagtAGATCGAGACCCGACGC chr21:34571621-Alternative-C;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative T aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GTAGGTGTTATC CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAgtaggtgttatcAGATCGAGACCCGACGC chr21:34571621-Alternative-T;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Reference G aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GTGCTTCGTCGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAgtgcttcgtcgtAGATCGAGACCCGACGC chr21:34571621-Reference-G;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Variant A aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AACGCGCCGTAA CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAaacgcgccgtaaAGATCGAGACCCGACGC chr21:34571621-Variant-A;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Reference G aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg CGGTGCAACTAT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAcggtgcaactatAGATCGAGACCCGACGC chr21:34571621-Reference-G;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative T aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg CGACGCTATCAA CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAcgacgctatcaaAGATCGAGACCCGACGC chr21:34571621-Alternative-T;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative C aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg ACGCGTGCAACT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAacgcgtgcaactAGATCGAGACCCGACGC chr21:34571621-Alternative-C;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Reference G aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AGCCACCATCGA CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAagccaccatcgaAGATCGAGACCCGACGC chr21:34571621-Reference-G;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Reference G aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg CTAGAATGACCT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAActagaatgacctAGATCGAGACCCGACGC chr21:34571621-Reference-G;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Reference G aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AACTTGCTATGG CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcGgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAaacttgctatggAGATCGAGACCCGACGC chr21:34571621-Reference-G;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative T aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GGTATCCGACGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAggtatccgacgtAGATCGAGACCCGACGC chr21:34571621-Alternative-T;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative T aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg GGTAACGACGGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAggtaacgacggtAGATCGAGACCCGACGC chr21:34571621-Alternative-T;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative C aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg ACAATAGGACGG CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcCgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAacaataggacggAGATCGAGACCCGACGC chr21:34571621-Alternative-C;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Variant A aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AATGATCCACGT CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcAgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAaatgatccacgtAGATCGAGACCCGACGC chr21:34571621-Variant-A;Patient-6 chr21:34571621-GA DeNovo Patient-6 intergenic 3.2e-05 0.000513 -0.33 0.3 -2.68 IFNAR2 30609 Alternative T aaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgagg AGCAACTATTCG CGACGCGGTCTCTCTCTaaaattcaacattctaactgcaattcaccaaatcttatctccagacttgcTgtgtttatagtttcagcaacacaacctgactgccaggaggagagtgaggAGAGGGAGACGGACGTCTCAATAAagcaactattcgAGATCGAGACCCGACGC chr21:34571621-Alternative-T;Patient-6 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative T tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AGATCAGTACGA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAagatcagtacgaAGATCGAGACCCGACGC chr21:34592217-Alternative-T;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative T tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AGATTAGGCGCT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAagattaggcgctAGATCGAGACCCGACGC chr21:34592217-Alternative-T;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Reference G tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AGCAACGATCCA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAagcaacgatccaAGATCGAGACCCGACGC chr21:34592217-Reference-G;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Reference G tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag CATGCTACGTCC CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAcatgctacgtccAGATCGAGACCCGACGC chr21:34592217-Reference-G;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative T tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AGCAACTCAACC CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAagcaactcaaccAGATCGAGACCCGACGC chr21:34592217-Alternative-T;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative T tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GGCGAAGCTAAG CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAggcgaagctaagAGATCGAGACCCGACGC chr21:34592217-Alternative-T;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative T tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GTGTACGCACCA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcTggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgtgtacgcaccaAGATCGAGACCCGACGC chr21:34592217-Alternative-T;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Reference G tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag CTGCGTGCAACA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAActgcgtgcaacaAGATCGAGACCCGACGC chr21:34592217-Reference-G;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Variant A tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GACAATTGGACA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgacaattggacaAGATCGAGACCCGACGC chr21:34592217-Variant-A;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Reference G tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GCGAATATCGTT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgcgaatatcgttAGATCGAGACCCGACGC chr21:34592217-Reference-G;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Variant A tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GTCGCTATGATT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgtcgctatgattAGATCGAGACCCGACGC chr21:34592217-Variant-A;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Reference G tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GCAGGATACTAA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcGggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgcaggatactaaAGATCGAGACCCGACGC chr21:34592217-Reference-G;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative C tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GATCACGGATAA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgatcacggataaAGATCGAGACCCGACGC chr21:34592217-Alternative-C;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative C tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag CGGCTAGCAGAA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAcggctagcagaaAGATCGAGACCCGACGC chr21:34592217-Alternative-C;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Variant A tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AAGCGCTACGCT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAaagcgctacgctAGATCGAGACCCGACGC chr21:34592217-Variant-A;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Variant A tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GGTAGATTCGAC CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAggtagattcgacAGATCGAGACCCGACGC chr21:34592217-Variant-A;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative C tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag AGCGGAATTCCA CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAagcggaattccaAGATCGAGACCCGACGC chr21:34592217-Alternative-C;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Variant A tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag ATTCGACGACAG CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcAggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAattcgacgacagAGATCGAGACCCGACGC chr21:34592217-Variant-A;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative C tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag CATCGCAATCTT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAcatcgcaatcttAGATCGAGACCCGACGC chr21:34592217-Alternative-C;Patient-35 chr21:34592217-GA DeNovo Patient-35 intergenic 0.000414 0.000512821 -0.64 0.03 -0.47 IFNAR2 10013 Alternative C tacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcag GCAGTGTCGACT CGACGCGGTCTCTCTCTtacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcCggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagAGAGGGAGACGGACGTCTCAATAAgcagtgtcgactAGATCGAGACCCGACGC chr21:34592217-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative T acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GGACATGTCATT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAggacatgtcattAGATCGAGACCCGACGC chr21:34592218-Alternative-T;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Variant A acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt CTCGCGAGTGAA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAActcgcgagtgaaAGATCGAGACCCGACGC chr21:34592218-Variant-A;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative T acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt ATCACGGCCAAT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAatcacggccaatAGATCGAGACCCGACGC chr21:34592218-Alternative-T;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative T acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt CAAGACGTATGT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAcaagacgtatgtAGATCGAGACCCGACGC chr21:34592218-Alternative-T;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative T acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt ACGACGCTCAGT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAacgacgctcagtAGATCGAGACCCGACGC chr21:34592218-Alternative-T;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Variant A acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt ACCGGTAGGAGT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaccggtaggagtAGATCGAGACCCGACGC chr21:34592218-Variant-A;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Variant A acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt AATGTAATCGGC CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaatgtaatcggcAGATCGAGACCCGACGC chr21:34592218-Variant-A;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Variant A acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt ACCTTAGTGACA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaccttagtgacaAGATCGAGACCCGACGC chr21:34592218-Variant-A;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative C acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt AACTCCTAGCTT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaactcctagcttAGATCGAGACCCGACGC chr21:34592218-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Variant A acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt ATAACGAGTCGA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgAgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAataacgagtcgaAGATCGAGACCCGACGC chr21:34592218-Variant-A;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative C acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GACGCATATAGA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAgacgcatatagaAGATCGAGACCCGACGC chr21:34592218-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative C acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt CGGCATACGGAA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAcggcatacggaaAGATCGAGACCCGACGC chr21:34592218-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Reference G acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt AGGTTATGGTTC CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaggttatggttcAGATCGAGACCCGACGC chr21:34592218-Reference-G;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative C acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GGCAGTATGCAG CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAggcagtatgcagAGATCGAGACCCGACGC chr21:34592218-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Reference G acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt AACGTATCGACT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAaacgtatcgactAGATCGAGACCCGACGC chr21:34592218-Reference-G;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative C acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GAATGACGAACG CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgCgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAgaatgacgaacgAGATCGAGACCCGACGC chr21:34592218-Alternative-C;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Reference G acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt CTCTTGTTAGGT CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAActcttgttaggtAGATCGAGACCCGACGC chr21:34592218-Reference-G;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Reference G acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GATTCCATCGAA CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAgattccatcgaaAGATCGAGACCCGACGC chr21:34592218-Reference-G;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Alternative T acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt CAACCTGTCGTC CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgTgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAcaacctgtcgtcAGATCGAGACCCGACGC chr21:34592218-Alternative-T;Patient-35 chr21:34592218-GA DeNovo Patient-35 intergenic 0.000319 0.000513 -0.36 0.25 -0.47 IFNAR2 10012 Reference G acaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagt GATTCCTAGCGG CGACGCGGTCTCTCTCTacaaaaattagctaggagtggtggcaggcacctgtagtcccagctactcgGgaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagtAGAGGGAGACGGACGTCTCAATAAgattcctagcggAGATCGAGACCCGACGC chr21:34592218-Reference-G;Patient-35 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative A ccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GTTACTGCGACG CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgttactgcgacgAGATCGAGACCCGACGC chr21:34941860-Alternative-A;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Reference C ccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GGTGGACGTAAC CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAggtggacgtaacAGATCGAGACCCGACGC chr21:34941860-Reference-C;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative G ccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CAGCGGCGTATA CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAcagcggcgtataAGATCGAGACCCGACGC chr21:34941860-Alternative-G;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative A ccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GCGAGGACTTCT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgcgaggacttctAGATCGAGACCCGACGC chr21:34941860-Alternative-A;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Reference C ccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CGTGATAGCGAT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAcgtgatagcgatAGATCGAGACCCGACGC chr21:34941860-Reference-C;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative G ccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GGATCGCTAGCA CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAggatcgctagcaAGATCGAGACCCGACGC chr21:34941860-Alternative-G;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Reference C ccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg AGACTACTCGAT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAagactactcgatAGATCGAGACCCGACGC chr21:34941860-Reference-C;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative A ccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg ACGATGTATTCG CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAacgatgtattcgAGATCGAGACCCGACGC chr21:34941860-Alternative-A;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative A ccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CGCTAACGGTCT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAcgctaacggtctAGATCGAGACCCGACGC chr21:34941860-Alternative-A;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Reference C ccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GCCGCGTTAGTT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgccgcgttagttAGATCGAGACCCGACGC chr21:34941860-Reference-C;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative G ccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg AGTCCGCTGGTT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAagtccgctggttAGATCGAGACCCGACGC chr21:34941860-Alternative-G;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Variant T ccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg ACCTACGCATAA CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAacctacgcataaAGATCGAGACCCGACGC chr21:34941860-Variant-T;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative G ccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg AGTTCGATCGAT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAagttcgatcgatAGATCGAGACCCGACGC chr21:34941860-Alternative-G;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Reference C ccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GAGTAGGTGATT CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctCgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgagtaggtgattAGATCGAGACCCGACGC chr21:34941860-Reference-C;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Variant T ccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CTACGTAGTCGC CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAActacgtagtcgcAGATCGAGACCCGACGC chr21:34941860-Variant-T;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Variant T ccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CGCTATCGCTAA CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAcgctatcgctaaAGATCGAGACCCGACGC chr21:34941860-Variant-T;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative G ccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GAATCGTATGAG CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctGgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgaatcgtatgagAGATCGAGACCCGACGC chr21:34941860-Alternative-G;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Variant T ccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg CAACACAGACGC CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAcaacacagacgcAGATCGAGACCCGACGC chr21:34941860-Variant-T;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Alternative A ccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg AAGGCGTCCTAC CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctAgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAaaggcgtcctacAGATCGAGACCCGACGC chr21:34941860-Alternative-A;Patient-15 chr21:34941860-CT DeNovo Patient-15 intronic SON 0.000117 3.92e-05 -0.18 0.82 0.39 GART 26661 Variant T ccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttg GCAAGAGGTAGG CGACGCGGTCTCTCTCTccaagagccctctaccaccttaattttccattcctctattcctttgccctTgcaccccacccgcttcattagtgcctgtgccttcttgtaagatctcttgAGAGGGAGACGGACGTCTCAATAAgcaagaggtaggAGATCGAGACCCGACGC chr21:34941860-Variant-T;Patient-15 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative A tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt ATCCGAGTTCAT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAatccgagttcatAGATCGAGACCCGACGC chr21:35533247-Alternative-A;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative A tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AGTGCTTGATCA CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAagtgcttgatcaAGATCGAGACCCGACGC chr21:35533247-Alternative-A;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Reference C tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GTGCTTATGCTT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgtgcttatgcttAGATCGAGACCCGACGC chr21:35533247-Reference-C;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative A tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt CGGACGTCCTAA CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAcggacgtcctaaAGATCGAGACCCGACGC chr21:35533247-Alternative-A;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative A tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AGATATGTTCGG CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAagatatgttcggAGATCGAGACCCGACGC chr21:35533247-Alternative-A;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Reference C tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt CAACCGTCGAAG CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAcaaccgtcgaagAGATCGAGACCCGACGC chr21:35533247-Reference-C;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Reference C tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt CGACGAACACCT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAcgacgaacacctAGATCGAGACCCGACGC chr21:35533247-Reference-C;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Reference C tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GACGCTTATGAT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgacgcttatgatAGATCGAGACCCGACGC chr21:35533247-Reference-C;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative T tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GAGGTTGGTGGT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgaggttggtggtAGATCGAGACCCGACGC chr21:35533247-Alternative-T;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Variant G tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GAGGTGGTACAC CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgaggtggtacacAGATCGAGACCCGACGC chr21:35533247-Variant-G;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Reference C tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt CTAAGTAGGTTC CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttCaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAActaagtaggttcAGATCGAGACCCGACGC chr21:35533247-Reference-C;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative A tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AAGGTAGCGAAT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttAaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAaaggtagcgaatAGATCGAGACCCGACGC chr21:35533247-Alternative-A;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative T tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt ACTGGTTCAAGT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAactggttcaagtAGATCGAGACCCGACGC chr21:35533247-Alternative-T;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative T tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AGCCACGTAGTC CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAagccacgtagtcAGATCGAGACCCGACGC chr21:35533247-Alternative-T;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Variant G tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GATACCACTTGA CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgataccacttgaAGATCGAGACCCGACGC chr21:35533247-Variant-G;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative T tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AACGACTAACCT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAaacgactaacctAGATCGAGACCCGACGC chr21:35533247-Alternative-T;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Alternative T tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AATCGGCAACTA CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttTaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAaatcggcaactaAGATCGAGACCCGACGC chr21:35533247-Alternative-T;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Variant G tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt CGCTGGACACTT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAcgctggacacttAGATCGAGACCCGACGC chr21:35533247-Variant-G;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Variant G tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt AGCTACCAGTCA CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAagctaccagtcaAGATCGAGACCCGACGC chr21:35533247-Variant-G;Patient-89 chr21:35533247-CG Inherited Patient-89 intergenic 0.000191 0.000513 0.02 2.89 1.72 MRPS6 87423 Variant G tccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagt GTCGCGACTAGT CGACGCGGTCTCTCTCTtccccacaatttaggggaagggctttgatgacatcctgttgcttctgtttGaatttgtacaaataaaagagaagcaaccgtatctaatctgtaagatagtAGAGGGAGACGGACGTCTCAATAAgtcgcgactagtAGATCGAGACCCGACGC chr21:35533247-Variant-G;Patient-89 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Reference T caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat ACTCGGTTGCCT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAactcggttgcctAGATCGAGACCCGACGC chr21:35926071-Reference-T;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Reference T caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GTGCTACATCGG CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAgtgctacatcggAGATCGAGACCCGACGC chr21:35926071-Reference-T;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Reference T caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat ACGGCTAGGCTT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAacggctaggcttAGATCGAGACCCGACGC chr21:35926071-Reference-T;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative G caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GTAGTCCGGACA CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAgtagtccggacaAGATCGAGACCCGACGC chr21:35926071-Alternative-G;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Reference T caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CGGCTTAACGGT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAcggcttaacggtAGATCGAGACCCGACGC chr21:35926071-Reference-T;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Variant C caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat ACACTTAACGAC CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAacacttaacgacAGATCGAGACCCGACGC chr21:35926071-Variant-C;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Reference T caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CATTCGTACGAA CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatTccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAcattcgtacgaaAGATCGAGACCCGACGC chr21:35926071-Reference-T;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative A caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GCGACTATATGG CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAgcgactatatggAGATCGAGACCCGACGC chr21:35926071-Alternative-A;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Variant C caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GCGGTTATGGAT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAgcggttatggatAGATCGAGACCCGACGC chr21:35926071-Variant-C;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Variant C caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GGACATGGCGAT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAggacatggcgatAGATCGAGACCCGACGC chr21:35926071-Variant-C;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative G caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CATGCGTCTAAT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAcatgcgtctaatAGATCGAGACCCGACGC chr21:35926071-Alternative-G;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative G caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GGTCGTAGTAGG CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAggtcgtagtaggAGATCGAGACCCGACGC chr21:35926071-Alternative-G;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Variant C caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GGTTACGAACTT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAggttacgaacttAGATCGAGACCCGACGC chr21:35926071-Variant-C;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative G caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat GTTGTAGGTACT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAgttgtaggtactAGATCGAGACCCGACGC chr21:35926071-Alternative-G;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative G caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat AACACTTACGCA CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatGccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAaacacttacgcaAGATCGAGACCCGACGC chr21:35926071-Alternative-G;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative A caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat ATCGGATAGCGG CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAatcggatagcggAGATCGAGACCCGACGC chr21:35926071-Alternative-A;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative A caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CGTTATCTAGCT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAcgttatctagctAGATCGAGACCCGACGC chr21:35926071-Alternative-A;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative A caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat AACGACTAAGGT CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAAaacgactaaggtAGATCGAGACCCGACGC chr21:35926071-Alternative-A;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Alternative A caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CTACACACTAGA CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatAccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAActacacactagaAGATCGAGACCCGACGC chr21:35926071-Alternative-A;Patient-57 chr21:35926071-TC DeNovo Patient-57 intronic RCAN1 NA 4.95e-05 0.27 6.81 -0.5 KCNE1 41497 Variant C caagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaat CTAAGTCGGCCA CGACGCGGTCTCTCTCTcaagcctgtagcacagtgctgggttcatgatcaaaacgcactgagttcatCccagagtcagctctacttgtgatgaaacaaataacctataaagcgaaatAGAGGGAGACGGACGTCTCAATAActaagtcggccaAGATCGAGACCCGACGC chr21:35926071-Variant-C;Patient-57 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative T acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga AATGGCTGGTAA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAaatggctggtaaAGATCGAGACCCGACGC chr21:38663367-Alternative-T;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative T acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga AGCTGTGCGAAC CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagctgtgcgaacAGATCGAGACCCGACGC chr21:38663367-Alternative-T;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative T acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GGATCGCTATTA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAggatcgctattaAGATCGAGACCCGACGC chr21:38663367-Alternative-T;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Variant A acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga ACTGAACGCGCA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAactgaacgcgcaAGATCGAGACCCGACGC chr21:38663367-Variant-A;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Variant A acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga CACGAGGACCTA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcacgaggacctaAGATCGAGACCCGACGC chr21:38663367-Variant-A;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Reference G acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga CGTTACCTGAAC CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcgttacctgaacAGATCGAGACCCGACGC chr21:38663367-Reference-G;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Variant A acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GATCGTCGTACG CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgatcgtcgtacgAGATCGAGACCCGACGC chr21:38663367-Variant-A;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative T acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GTATAGCTCAGT CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgtatagctcagtAGATCGAGACCCGACGC chr21:38663367-Alternative-T;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative C acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GGAGTCGAGCTA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAggagtcgagctaAGATCGAGACCCGACGC chr21:38663367-Alternative-C;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Variant A acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga ATTACTGTTCGG CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAattactgttcggAGATCGAGACCCGACGC chr21:38663367-Variant-A;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative T acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GGCTTATTGCAT CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccTgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAggcttattgcatAGATCGAGACCCGACGC chr21:38663367-Alternative-T;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative C acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga ACGATTCACGGC CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAacgattcacggcAGATCGAGACCCGACGC chr21:38663367-Alternative-C;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Variant A acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga ACCTTACTGCCG CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccAgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAaccttactgccgAGATCGAGACCCGACGC chr21:38663367-Variant-A;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Reference G acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga CGATACAACGCT CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcgatacaacgctAGATCGAGACCCGACGC chr21:38663367-Reference-G;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Reference G acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GATCGTAAGTCA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgatcgtaagtcaAGATCGAGACCCGACGC chr21:38663367-Reference-G;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative C acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GACCATTGGTAC CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgaccattggtacAGATCGAGACCCGACGC chr21:38663367-Alternative-C;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative C acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GACCGACATGGT CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgaccgacatggtAGATCGAGACCCGACGC chr21:38663367-Alternative-C;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Alternative C acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga AGAACCTCATAC CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccCgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAagaacctcatacAGATCGAGACCCGACGC chr21:38663367-Alternative-C;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Reference G acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga CAACTGCTATGA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAcaactgctatgaAGATCGAGACCCGACGC chr21:38663367-Reference-G;Patient-99 chr21:38663367-GA DeNovo Patient-99 intergenic 0.000128 0.000513 -0.41 0.17 -0.09 DYRK1A 76491 Reference G acacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccga GTGACCGCTGAA CGACGCGGTCTCTCTCTacacatgctcaccctcactcctgagaacaattaaaagtatgggggattccGgccgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaAGAGGGAGACGGACGTCTCAATAAgtgaccgctgaaAGATCGAGACCCGACGC chr21:38663367-Reference-G;Patient-99 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Variant T gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GATGAGTAATCG CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAgatgagtaatcgAGATCGAGACCCGACGC chr21:38739981-Variant-T;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative G gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ATACCGTCGAAT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAataccgtcgaatAGATCGAGACCCGACGC chr21:38739981-Alternative-G;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative A gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GTATTCACGAAC CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAgtattcacgaacAGATCGAGACCCGACGC chr21:38739981-Alternative-A;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative G gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ATTATCGCGTCT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAattatcgcgtctAGATCGAGACCCGACGC chr21:38739981-Alternative-G;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Variant T gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ACGACACCATAC CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAacgacaccatacAGATCGAGACCCGACGC chr21:38739981-Variant-T;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Variant T gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CTGAATCGCGGT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAActgaatcgcggtAGATCGAGACCCGACGC chr21:38739981-Variant-T;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative G gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GGTCAAGTAACA CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAggtcaagtaacaAGATCGAGACCCGACGC chr21:38739981-Alternative-G;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative A gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CGTGCATAGAGT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAcgtgcatagagtAGATCGAGACCCGACGC chr21:38739981-Alternative-A;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Reference C gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CTCTGGCGTATC CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAActctggcgtatcAGATCGAGACCCGACGC chr21:38739981-Reference-C;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative A gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg AATGCGGTGTGG CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAaatgcggtgtggAGATCGAGACCCGACGC chr21:38739981-Alternative-A;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Reference C gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GCGATGGAATGA CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAgcgatggaatgaAGATCGAGACCCGACGC chr21:38739981-Reference-C;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative G gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ACACTAGCTTCT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAacactagcttctAGATCGAGACCCGACGC chr21:38739981-Alternative-G;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Variant T gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GACGGAATATAC CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAgacggaatatacAGATCGAGACCCGACGC chr21:38739981-Variant-T;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative G gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CGGCTATAAGTT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccGcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAcggctataagttAGATCGAGACCCGACGC chr21:38739981-Alternative-G;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Reference C gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ACGCATGTATCA CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAacgcatgtatcaAGATCGAGACCCGACGC chr21:38739981-Reference-C;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative A gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GCCACCGTAGAT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAgccaccgtagatAGATCGAGACCCGACGC chr21:38739981-Alternative-A;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Variant T gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg ACGATGCAAGAT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccTcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAacgatgcaagatAGATCGAGACCCGACGC chr21:38739981-Variant-T;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Alternative A gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg GGTATCCGCGTT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccAcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAggtatccgcgttAGATCGAGACCCGACGC chr21:38739981-Alternative-A;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Reference C gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CAAGCGGAGATT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAcaagcggagattAGATCGAGACCCGACGC chr21:38739981-Reference-C;Patient-110 chr21:38739981-CT DeNovo Patient-110 intronic DYRK1A 0.00062 3.98e-05 0.88 12.44 0.53 DYRK1A 121 Reference C gtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggagg CAACCGCATAGT CGACGCGGTCTCTCTCTgtgagtgtccggcccggccgcggccccgcccggcctggcgctcggctcccCcggcggcccgcagccgggccggagccgaggccggccgggcggagggaggAGAGGGAGACGGACGTCTCAATAAcaaccgcatagtAGATCGAGACCCGACGC chr21:38739981-Reference-C;Patient-110 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Reference C ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AAGGTATCGTGT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAaaggtatcgtgtAGATCGAGACCCGACGC chr21:38748268-Reference-C;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Reference C ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CGTTCGAACACG CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAcgttcgaacacgAGATCGAGACCCGACGC chr21:38748268-Reference-C;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Reference C ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga ATCTAGCCATCA CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAatctagccatcaAGATCGAGACCCGACGC chr21:38748268-Reference-C;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Reference C ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AACGAGCGCGAT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAaacgagcgcgatAGATCGAGACCCGACGC chr21:38748268-Reference-C;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Variant T ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AATCGGACTCTA CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAaatcggactctaAGATCGAGACCCGACGC chr21:38748268-Variant-T;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative A ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CTCGCTCGGATT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAActcgctcggattAGATCGAGACCCGACGC chr21:38748268-Alternative-A;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Reference C ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AGACGGCTGAAT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcCtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAagacggctgaatAGATCGAGACCCGACGC chr21:38748268-Reference-C;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative A ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CTCGTGGTTGCT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAActcgtggttgctAGATCGAGACCCGACGC chr21:38748268-Alternative-A;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative A ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AGTAATCTGGAG CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAagtaatctggagAGATCGAGACCCGACGC chr21:38748268-Alternative-A;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative A ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga GTAACTATCCGC CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAgtaactatccgcAGATCGAGACCCGACGC chr21:38748268-Alternative-A;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Variant T ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CGTAACGTATGT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAcgtaacgtatgtAGATCGAGACCCGACGC chr21:38748268-Variant-T;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Variant T ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga GACCTTGACCAT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAgaccttgaccatAGATCGAGACCCGACGC chr21:38748268-Variant-T;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Variant T ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga ACCTATACGTCT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAacctatacgtctAGATCGAGACCCGACGC chr21:38748268-Variant-T;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Variant T ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AGAGCCTTGTCG CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcTtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAagagccttgtcgAGATCGAGACCCGACGC chr21:38748268-Variant-T;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative A ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CAATGAGCTAAC CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcAtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAcaatgagctaacAGATCGAGACCCGACGC chr21:38748268-Alternative-A;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative G ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga AGTTACTCTGAC CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAagttactctgacAGATCGAGACCCGACGC chr21:38748268-Alternative-G;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative G ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga ACCTTCTGACTA CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAaccttctgactaAGATCGAGACCCGACGC chr21:38748268-Alternative-G;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative G ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga ACGCGTGGTATT CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAacgcgtggtattAGATCGAGACCCGACGC chr21:38748268-Alternative-G;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative G ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CGGTAATCGTGG CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAcggtaatcgtggAGATCGAGACCCGACGC chr21:38748268-Alternative-G;Patient-36 chr21:38748268-CT DeNovo Patient-36 intronic DYRK1A NA 0.00016 -0.02 2.34 0.23 DYRK1A 8408 Alternative G ctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggaga CGTAGATCCATA CGACGCGGTCTCTCTCTctgtttttgcacccaaaagttgccttttggcccgccaagcccccctcttcGtataccaatataaacctgaaaccgcaggccccacaagcagacgaggagaAGAGGGAGACGGACGTCTCAATAAcgtagatccataAGATCGAGACCCGACGC chr21:38748268-Alternative-G;Patient-36 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Variant T tttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctac ACTGAAGTGAAC CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAactgaagtgaacAGATCGAGACCCGACGC chr21:40261797-Variant-T;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative A tttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctac CTGCATTACGTT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAActgcattacgttAGATCGAGACCCGACGC chr21:40261797-Alternative-A;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative A tttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctac GTACTCCAATCA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAgtactccaatcaAGATCGAGACCCGACGC chr21:40261797-Alternative-A;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative G tttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctac ACAGGATTGGCG CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAacaggattggcgAGATCGAGACCCGACGC chr21:40261797-Alternative-G;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Reference C tttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctac AAGCATGTCAAG CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAaagcatgtcaagAGATCGAGACCCGACGC chr21:40261797-Reference-C;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Reference C tttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctac CAACATCGAGAA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAcaacatcgagaaAGATCGAGACCCGACGC chr21:40261797-Reference-C;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative A tttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctac GTCATGGACGTC CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAgtcatggacgtcAGATCGAGACCCGACGC chr21:40261797-Alternative-A;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Reference C tttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctac GTGCGCGAAGAT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAgtgcgcgaagatAGATCGAGACCCGACGC chr21:40261797-Reference-C;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Reference C tttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctac GGACTTGCTGAC CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAggacttgctgacAGATCGAGACCCGACGC chr21:40261797-Reference-C;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Variant T tttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctac ATCTATCGGACA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAatctatcggacaAGATCGAGACCCGACGC chr21:40261797-Variant-T;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Reference C tttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctac GTCGAGTAATGA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaCagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAgtcgagtaatgaAGATCGAGACCCGACGC chr21:40261797-Reference-C;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Variant T tttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctac CGATGCGTCGAT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAcgatgcgtcgatAGATCGAGACCCGACGC chr21:40261797-Variant-T;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative G tttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctac CACTTCGTTAGT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAcacttcgttagtAGATCGAGACCCGACGC chr21:40261797-Alternative-G;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative A tttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctac AACACTGTTCGA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAaacactgttcgaAGATCGAGACCCGACGC chr21:40261797-Alternative-A;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Variant T tttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctac CGTTGGTCGTCT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAcgttggtcgtctAGATCGAGACCCGACGC chr21:40261797-Variant-T;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative G tttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctac GGTACCTAGTAT CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAggtacctagtatAGATCGAGACCCGACGC chr21:40261797-Alternative-G;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative G tttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctac GGCTCATCAATA CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAggctcatcaataAGATCGAGACCCGACGC chr21:40261797-Alternative-G;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative A tttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctac GGTTAATGCCGC CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaAagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAggttaatgccgcAGATCGAGACCCGACGC chr21:40261797-Alternative-A;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Alternative G tttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctac AACCGGAGTTCG CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaGagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAaaccggagttcgAGATCGAGACCCGACGC chr21:40261797-Alternative-G;Patient-69 chr21:40261797-CT DeNovo Patient-69 intergenic NA 0.000160205 0.17 5.35 0.11 ETS2 84565 Variant T tttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctac ATACCGCGTCAC CGACGCGGTCTCTCTCTtttctttatgtattcattctcatcataatctatgttcttttctccctttaTagatcgcttgccactggattactaatctgatttctctctccatagctacAGAGGGAGACGGACGTCTCAATAAataccgcgtcacAGATCGAGACCCGACGC chr21:40261797-Variant-T;Patient-69 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Reference G aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactcca ATATGCGCCAAT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAatatgcgccaatAGATCGAGACCCGACGC chr21:40702487-Reference-G;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Reference G aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactcca AATGAGGACGAA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAaatgaggacgaaAGATCGAGACCCGACGC chr21:40702487-Reference-G;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Reference G aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GAGTTACTACGT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgagttactacgtAGATCGAGACCCGACGC chr21:40702487-Reference-G;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Reference G aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactcca ACTTCTCGATGT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAacttctcgatgtAGATCGAGACCCGACGC chr21:40702487-Reference-G;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative T aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactcca AACGGCATAAGT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAaacggcataagtAGATCGAGACCCGACGC chr21:40702487-Alternative-T;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Reference G aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GCCTTAACGGAA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaGccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgccttaacggaaAGATCGAGACCCGACGC chr21:40702487-Reference-G;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative C aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GTTGGCACGACT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgttggcacgactAGATCGAGACCCGACGC chr21:40702487-Alternative-C;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative C aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GCATTCTGTGTT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgcattctgtgttAGATCGAGACCCGACGC chr21:40702487-Alternative-C;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative T aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GCACGTTCTTCG CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgcacgttcttcgAGATCGAGACCCGACGC chr21:40702487-Alternative-T;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative T aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactcca CACGAGCCATGA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAcacgagccatgaAGATCGAGACCCGACGC chr21:40702487-Alternative-T;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative T aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactcca AGTCGGCGTTCA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAagtcggcgttcaAGATCGAGACCCGACGC chr21:40702487-Alternative-T;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative C aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactcca CACGGCAAGTCA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAcacggcaagtcaAGATCGAGACCCGACGC chr21:40702487-Alternative-C;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative C aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GGCAATTGCGCT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAggcaattgcgctAGATCGAGACCCGACGC chr21:40702487-Alternative-C;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative T aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactcca CATGAGTTAACC CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaTccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAcatgagttaaccAGATCGAGACCCGACGC chr21:40702487-Alternative-T;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Variant A aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GTCGTGTCCGTT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgtcgtgtccgttAGATCGAGACCCGACGC chr21:40702487-Variant-A;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Variant A aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactcca GATTCTTGACAG CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAgattcttgacagAGATCGAGACCCGACGC chr21:40702487-Variant-A;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Variant A aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactcca CAGTCCGGACTT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAcagtccggacttAGATCGAGACCCGACGC chr21:40702487-Variant-A;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Variant A aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactcca AGACGTAGCATA CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAagacgtagcataAGATCGAGACCCGACGC chr21:40702487-Variant-A;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Alternative C aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactcca CAACAGTTGACT CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaCccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAcaacagttgactAGATCGAGACCCGACGC chr21:40702487-Alternative-C;Patient-87 chr21:40702487-GA Inherited Patient-87 intergenic 0.000255 0.000513 0.04 3.3 0 HMGN1 18559 Variant A aggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactcca AGCTTGCTACGC CGACGCGGTCTCTCTCTaggctgaggcaggaggattgctagaacctgggaggtggaggttgcagtgaAccaagatctcaccattgcactccagcctgggtgacagagtgagactccaAGAGGGAGACGGACGTCTCAATAAagcttgctacgcAGATCGAGACCCGACGC chr21:40702487-Variant-A;Patient-87 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative C cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GATAGCATAGGT CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAgatagcataggtAGATCGAGACCCGACGC chr21:43178461-Alternative-C;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative C cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt ACGCGAGTTATT CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAacgcgagttattAGATCGAGACCCGACGC chr21:43178461-Alternative-C;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative C cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt ATATAACGCCGA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAatataacgccgaAGATCGAGACCCGACGC chr21:43178461-Alternative-C;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Reference A cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt AGATCCTGACCA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAagatcctgaccaAGATCGAGACCCGACGC chr21:43178461-Reference-A;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Reference A cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GGTTGAACTAAC CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAggttgaactaacAGATCGAGACCCGACGC chr21:43178461-Reference-A;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative T cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CTTGATGCCGCA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAActtgatgccgcaAGATCGAGACCCGACGC chr21:43178461-Alternative-T;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative C cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GGCTACATCAGT CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAggctacatcagtAGATCGAGACCCGACGC chr21:43178461-Alternative-C;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative C cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt AATACGAGTCGA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatCtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAaatacgagtcgaAGATCGAGACCCGACGC chr21:43178461-Alternative-C;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Reference A cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GCCGTATCCTTC CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAgccgtatccttcAGATCGAGACCCGACGC chr21:43178461-Reference-A;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative T cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GAATTGGTCTAC CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAgaattggtctacAGATCGAGACCCGACGC chr21:43178461-Alternative-T;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative T cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GTCGAGGCCTTA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAgtcgaggccttaAGATCGAGACCCGACGC chr21:43178461-Alternative-T;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Variant G cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CGCGGAATACGA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAcgcggaatacgaAGATCGAGACCCGACGC chr21:43178461-Variant-G;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative T cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt AATCGCGATCCA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAaatcgcgatccaAGATCGAGACCCGACGC chr21:43178461-Alternative-T;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Reference A cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CTTGCTCGCATA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAActtgctcgcataAGATCGAGACCCGACGC chr21:43178461-Reference-A;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Reference A cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CATTGGTGTCTT CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatAtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAcattggtgtcttAGATCGAGACCCGACGC chr21:43178461-Reference-A;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Alternative T cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CGACAGCGTTCA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatTtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAcgacagcgttcaAGATCGAGACCCGACGC chr21:43178461-Alternative-T;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Variant G cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt ACACGATCAATC CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAacacgatcaatcAGATCGAGACCCGACGC chr21:43178461-Variant-G;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Variant G cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt CACGAGAATCGG CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAcacgagaatcggAGATCGAGACCCGACGC chr21:43178461-Variant-G;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Variant G cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt GTCGAGTCGTCA CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAgtcgagtcgtcaAGATCGAGACCCGACGC chr21:43178461-Variant-G;Patient-78 chr21:43178461-AG DeNovo Patient-78 intronic RIPK4 NA 4.95e-05 -0.03 2.14 -1 RIPK4 8787 Variant G cctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcatt AGTACCGACAGG CGACGCGGTCTCTCTCTcctcatccccatcctcagtaacctcttttctacattctaggcaaattcatGtaagcataagcatataaaatttgcccttctgtgtctggcttatttcattAGAGGGAGACGGACGTCTCAATAAagtaccgacaggAGATCGAGACCCGACGC chr21:43178461-Variant-G;Patient-78 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Reference A tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GGTCATGATACT CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAggtcatgatactAGATCGAGACCCGACGC chr21:43821774-Reference-A;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative T tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GGAGGTTAAGAA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAggaggttaagaaAGATCGAGACCCGACGC chr21:43821774-Alternative-T;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Reference A tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac CAACGAACGTGG CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAcaacgaacgtggAGATCGAGACCCGACGC chr21:43821774-Reference-A;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Reference A tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac CAACCTGGCTAT CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAcaacctggctatAGATCGAGACCCGACGC chr21:43821774-Reference-A;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative T tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac AAGTATCGGACA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAaagtatcggacaAGATCGAGACCCGACGC chr21:43821774-Alternative-T;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Variant G tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GTCAGGTCGAAC CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAgtcaggtcgaacAGATCGAGACCCGACGC chr21:43821774-Variant-G;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Reference A tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GGAACCTACGAT CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAggaacctacgatAGATCGAGACCCGACGC chr21:43821774-Reference-A;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Variant G tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GATCGCGTAGCA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAgatcgcgtagcaAGATCGAGACCCGACGC chr21:43821774-Variant-G;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Variant G tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac CGCCAACACATC CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAcgccaacacatcAGATCGAGACCCGACGC chr21:43821774-Variant-G;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative C tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac CGATTATCGCGG CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAcgattatcgcggAGATCGAGACCCGACGC chr21:43821774-Alternative-C;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Reference A tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac ATCGTACGTCGC CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacAccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAatcgtacgtcgcAGATCGAGACCCGACGC chr21:43821774-Reference-A;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Variant G tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GTGCTAACGACT CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAgtgctaacgactAGATCGAGACCCGACGC chr21:43821774-Variant-G;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative T tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac ACCGGACGTAAC CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAaccggacgtaacAGATCGAGACCCGACGC chr21:43821774-Alternative-T;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative C tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac AGCCAATCACCA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAagccaatcaccaAGATCGAGACCCGACGC chr21:43821774-Alternative-C;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative C tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac AAGCATCGGTAA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAaagcatcggtaaAGATCGAGACCCGACGC chr21:43821774-Alternative-C;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Variant G tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GTAAGTGCTAAG CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacGccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAgtaagtgctaagAGATCGAGACCCGACGC chr21:43821774-Variant-G;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative T tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac ACGATTCGTACA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAacgattcgtacaAGATCGAGACCCGACGC chr21:43821774-Alternative-T;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative T tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac CGCAGTAACATA CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacTccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAcgcagtaacataAGATCGAGACCCGACGC chr21:43821774-Alternative-T;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative C tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GGTAGTTGGTGG CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAggtagttggtggAGATCGAGACCCGACGC chr21:43821774-Alternative-C;Patient-88 chr21:43821774-AG DeNovo Patient-88 intergenic NA 0.000513 0.02 3 -0.5 TFF1 35129 Alternative C tgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaac GCAATGTCGGAG CGACGCGGTCTCTCTCTtgattgtaggtgtgaatctttttgcactacccaatgacacactatgacacCccatggcaacctgatttgtaaatgtttatgaaaaagcaaaggacaaaacAGAGGGAGACGGACGTCTCAATAAgcaatgtcggagAGATCGAGACCCGACGC chr21:43821774-Alternative-C;Patient-88 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Reference C actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GGTCGCGTTGTT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAggtcgcgttgttAGATCGAGACCCGACGC chr21:44311236-Reference-C;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Variant A actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt AAGATCAGCTGA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAaagatcagctgaAGATCGAGACCCGACGC chr21:44311236-Variant-A;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Reference C actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CAACCGCCTAAC CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcaaccgcctaacAGATCGAGACCCGACGC chr21:44311236-Reference-C;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Reference C actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CTAGATTCCGAA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAActagattccgaaAGATCGAGACCCGACGC chr21:44311236-Reference-C;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Reference C actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CGCCGACATAAG CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgccgacataagAGATCGAGACCCGACGC chr21:44311236-Reference-C;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Reference C actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CGTGTTGCGGTT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacCagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgtgttgcggttAGATCGAGACCCGACGC chr21:44311236-Reference-C;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Variant A actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GAGTATAACGGT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgagtataacggtAGATCGAGACCCGACGC chr21:44311236-Variant-A;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative G actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt AGTCATTCGCGG CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAagtcattcgcggAGATCGAGACCCGACGC chr21:44311236-Alternative-G;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Variant A actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GAGAGCACGAAC CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgagagcacgaacAGATCGAGACCCGACGC chr21:44311236-Variant-A;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Variant A actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CGGTGATGATAA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcggtgatgataaAGATCGAGACCCGACGC chr21:44311236-Variant-A;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative G actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CGCAGCACAAGT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgcagcacaagtAGATCGAGACCCGACGC chr21:44311236-Alternative-G;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative T actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CATAGTACGAGA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcatagtacgagaAGATCGAGACCCGACGC chr21:44311236-Alternative-T;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative T actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GATATGCTGACT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgatatgctgactAGATCGAGACCCGACGC chr21:44311236-Alternative-T;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative T actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt AGCGTGAACGCA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAagcgtgaacgcaAGATCGAGACCCGACGC chr21:44311236-Alternative-T;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative G actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GACTAGTACACG CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgactagtacacgAGATCGAGACCCGACGC chr21:44311236-Alternative-G;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative T actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt AGGACACCGACT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAaggacaccgactAGATCGAGACCCGACGC chr21:44311236-Alternative-T;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative G actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GTAGCGACACTT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgtagcgacacttAGATCGAGACCCGACGC chr21:44311236-Alternative-G;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative G actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GCATGTATCGAA CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacGagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAgcatgtatcgaaAGATCGAGACCCGACGC chr21:44311236-Alternative-G;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Alternative T actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt CGTCTTGATGTT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacTagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAcgtcttgatgttAGATCGAGACCCGACGC chr21:44311236-Alternative-T;Patient-39 chr21:44311236-CA DeNovo Patient-39 intergenic NA 0.000513 0.09 4.13 0.12 NDUFV3 2141 Variant A actttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaatt GGCTAACCGTCT CGACGCGGTCTCTCTCTactttgggaggccgatgcaggcagatcacttgaggtcaagagttacaaacAagcctgaccaacatggtgaaacactatctctactaaaaatacaaaaattAGAGGGAGACGGACGTCTCAATAAggctaaccgtctAGATCGAGACCCGACGC chr21:44311236-Variant-A;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Variant T ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag ACTTGGTTCGTT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAacttggttcgttAGATCGAGACCCGACGC chr21:45487115-Variant-T;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative G ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CAACCACAGCAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcaaccacagcatAGATCGAGACCCGACGC chr21:45487115-Alternative-G;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Variant T ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag GCGCTATCAGCA CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAgcgctatcagcaAGATCGAGACCCGACGC chr21:45487115-Variant-T;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative G ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CTAACAGGATCG CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAActaacaggatcgAGATCGAGACCCGACGC chr21:45487115-Alternative-G;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative G ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag AAGTAAGGATCG CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAaagtaaggatcgAGATCGAGACCCGACGC chr21:45487115-Alternative-G;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative G ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag AGTTCTGACGAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAagttctgacgatAGATCGAGACCCGACGC chr21:45487115-Alternative-G;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative G ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag GCGAAGGTGAGT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacGtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAgcgaaggtgagtAGATCGAGACCCGACGC chr21:45487115-Alternative-G;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Variant T ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CAGGATCACGAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcaggatcacgatAGATCGAGACCCGACGC chr21:45487115-Variant-T;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Reference C ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CGCAATTGATCA CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcgcaattgatcaAGATCGAGACCCGACGC chr21:45487115-Reference-C;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Variant T ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CTTGCCGACTAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAActtgccgactatAGATCGAGACCCGACGC chr21:45487115-Variant-T;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Reference C ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag GTATTACGGTAC CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAgtattacggtacAGATCGAGACCCGACGC chr21:45487115-Reference-C;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Reference C ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CAGCTCTGATGG CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcagctctgatggAGATCGAGACCCGACGC chr21:45487115-Reference-C;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative A ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag ATAGCAGCGGCA CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAatagcagcggcaAGATCGAGACCCGACGC chr21:45487115-Alternative-A;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative A ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CGATCTAATCGA CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcgatctaatcgaAGATCGAGACCCGACGC chr21:45487115-Alternative-A;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Reference C ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag ACACGATCCTTC CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAacacgatccttcAGATCGAGACCCGACGC chr21:45487115-Reference-C;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Reference C ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CATGCTTGTCAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacCtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcatgcttgtcatAGATCGAGACCCGACGC chr21:45487115-Reference-C;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Variant T ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CGCAATAGTCAC CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacTtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcgcaatagtcacAGATCGAGACCCGACGC chr21:45487115-Variant-T;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative A ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CTGTGGACCGAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAActgtggaccgatAGATCGAGACCCGACGC chr21:45487115-Alternative-A;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative A ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag CGTGTCCATTAT CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAcgtgtccattatAGATCGAGACCCGACGC chr21:45487115-Alternative-A;Patient-39 chr21:45487115-CT DeNovo Patient-39 intronic TRAPPC10 NA 4.95e-05 -0.09 1.48 -0.68 TRAPPC10 54908 Alternative A ccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccag GCGTATGTGGAG CGACGCGGTCTCTCTCTccgtcggagttagctggccggtttgtgaacagaggctgtgtgtggccaacAtgcaggttgaaccagaggaagaagaaggtttacagtcaaagctggccagAGAGGGAGACGGACGTCTCAATAAgcgtatgtggagAGATCGAGACCCGACGC chr21:45487115-Alternative-A;Patient-39 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative A tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat GGTGGACGAGAA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAggtggacgagaaAGATCGAGACCCGACGC chr21:45502604-Alternative-A;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Reference C tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CAACAGCATAAG CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcaacagcataagAGATCGAGACCCGACGC chr21:45502604-Reference-C;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative A tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat AATCGCTAGTCA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAaatcgctagtcaAGATCGAGACCCGACGC chr21:45502604-Alternative-A;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Reference C tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CAGCTTCGTAGG CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcagcttcgtaggAGATCGAGACCCGACGC chr21:45502604-Reference-C;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Reference C tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CATGCGTCCAAC CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcatgcgtccaacAGATCGAGACCCGACGC chr21:45502604-Reference-C;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Reference C tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CGTGTCGATGCA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcgtgtcgatgcaAGATCGAGACCCGACGC chr21:45502604-Reference-C;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative G tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CAACAGGTCACT CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcaacaggtcactAGATCGAGACCCGACGC chr21:45502604-Alternative-G;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Reference C tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat ATACGCATGTCG CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggCctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAatacgcatgtcgAGATCGAGACCCGACGC chr21:45502604-Reference-C;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative G tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat GGATACCTTAAC CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAggataccttaacAGATCGAGACCCGACGC chr21:45502604-Alternative-G;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Variant T tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CTAGAGAGCGGT CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAActagagagcggtAGATCGAGACCCGACGC chr21:45502604-Variant-T;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative G tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat AAGTACTCCGGC CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAaagtactccggcAGATCGAGACCCGACGC chr21:45502604-Alternative-G;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative A tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat ATCGTTCCAACG CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAatcgttccaacgAGATCGAGACCCGACGC chr21:45502604-Alternative-A;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Variant T tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat ATTCTTGTGCCG CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAattcttgtgccgAGATCGAGACCCGACGC chr21:45502604-Variant-T;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative G tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CTTGAGTATCGC CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAActtgagtatcgcAGATCGAGACCCGACGC chr21:45502604-Alternative-G;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative G tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CTATAGGCTTGT CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggGctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAActataggcttgtAGATCGAGACCCGACGC chr21:45502604-Alternative-G;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Variant T tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat GTTGGCATACTA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAgttggcatactaAGATCGAGACCCGACGC chr21:45502604-Variant-T;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative A tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CTACGCTGAATA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAActacgctgaataAGATCGAGACCCGACGC chr21:45502604-Alternative-A;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Alternative A tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat GACGTAACATCA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggActgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAgacgtaacatcaAGATCGAGACCCGACGC chr21:45502604-Alternative-A;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Variant T tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat ACTAGGCGGTCA CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAactaggcggtcaAGATCGAGACCCGACGC chr21:45502604-Variant-T;Patient-58 chr21:45502604-CT Inherited Patient-58 intronic TRAPPC10 0.00067 0.00064331 -0.19 0.79 -5.46 TRAPPC10 70397 Variant T tcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgat CGGACTTGCCTT CGACGCGGTCTCTCTCTtcactgctgcttgcttcagtctgctctcggtgatcttactgtgtccgcggTctgctgctgcttactgtcaggaagtgtgacttggggagtcacttacgatAGAGGGAGACGGACGTCTCAATAAcggacttgccttAGATCGAGACCCGACGC chr21:45502604-Variant-T;Patient-58 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Reference G gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GTCTAGCGGAAC CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgtctagcggaacAGATCGAGACCCGACGC chr21:46176379-Reference-G;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Reference G gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GACGATCTGTGA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgacgatctgtgaAGATCGAGACCCGACGC chr21:46176379-Reference-G;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Reference G gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttca AGACGATATGGT CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAagacgatatggtAGATCGAGACCCGACGC chr21:46176379-Reference-G;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Reference G gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GAGTCTCTCGTC CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgagtctctcgtcAGATCGAGACCCGACGC chr21:46176379-Reference-G;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Variant A gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttca ATCTCGAGGACG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAatctcgaggacgAGATCGAGACCCGACGC chr21:46176379-Variant-A;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Variant A gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CGTGCTTGATAA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAcgtgcttgataaAGATCGAGACCCGACGC chr21:46176379-Variant-A;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Variant A gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GGATATGAGAAG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAggatatgagaagAGATCGAGACCCGACGC chr21:46176379-Variant-A;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Variant A gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GCGTGTCTAACG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgcgtgtctaacgAGATCGAGACCCGACGC chr21:46176379-Variant-A;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative T gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CGAGTACTGCGT CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAcgagtactgcgtAGATCGAGACCCGACGC chr21:46176379-Alternative-T;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Reference G gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GATCAGTCGGAG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcGgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgatcagtcggagAGATCGAGACCCGACGC chr21:46176379-Reference-G;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative T gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttca ACCGCTTAGGAT CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAaccgcttaggatAGATCGAGACCCGACGC chr21:46176379-Alternative-T;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative T gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttca AGTTAACGCGGC CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAagttaacgcggcAGATCGAGACCCGACGC chr21:46176379-Alternative-T;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative C gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttca AGCCAATTCCAA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAagccaattccaaAGATCGAGACCCGACGC chr21:46176379-Alternative-C;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative C gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CTTGATCGCGCA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAActtgatcgcgcaAGATCGAGACCCGACGC chr21:46176379-Alternative-C;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Variant A gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttca ATAGCGTTCTGA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcAgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAatagcgttctgaAGATCGAGACCCGACGC chr21:46176379-Variant-A;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative T gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GAGGTTGCGTGA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgaggttgcgtgaAGATCGAGACCCGACGC chr21:46176379-Alternative-T;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative C gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CATGTCGGCCTT CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAcatgtcggccttAGATCGAGACCCGACGC chr21:46176379-Alternative-C;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative C gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CATTAGCGATGG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAcattagcgatggAGATCGAGACCCGACGC chr21:46176379-Alternative-C;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative C gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttca CTACGCAAGATA CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcCgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAActacgcaagataAGATCGAGACCCGACGC chr21:46176379-Alternative-C;Patient-27 chr21:46176379-GA DeNovo Patient-27 intergenic 0.000191 0.000512821 -0.08 1.57 0.16 UBE2G2 45371 Alternative T gcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttca GTACCTTAGGCG CGACGCGGTCTCTCTCTgcccttcatatttattaggtagaaagagcagggaggaggaggtaacgatcTgagggctgcttgattgatcacaggttcacattattgctcacaggcttcaAGAGGGAGACGGACGTCTCAATAAgtaccttaggcgAGATCGAGACCCGACGC chr21:46176379-Alternative-T;Patient-27 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative G tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGTTGCATCTTA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgttgcatcttaAGATCGAGACCCGACGC chr21:46428154-Alternative-G;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative G tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGGCAATAATGA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcggcaataatgaAGATCGAGACCCGACGC chr21:46428154-Alternative-G;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Reference T tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGAAGCTTGACT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgaagcttgactAGATCGAGACCCGACGC chr21:46428154-Reference-T;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative A tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGTGTTAGCTAA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgtgttagctaaAGATCGAGACCCGACGC chr21:46428154-Alternative-A;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative A tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CTTACAACCACA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActtacaaccacaAGATCGAGACCCGACGC chr21:46428154-Alternative-A;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative G tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg GTGTCGTCGAGT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgtgtcgtcgagtAGATCGAGACCCGACGC chr21:46428154-Alternative-G;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Reference T tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg AGCTCCGTAATT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAagctccgtaattAGATCGAGACCCGACGC chr21:46428154-Reference-T;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative G tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg GAGATGATGGAA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgagatgatggaaAGATCGAGACCCGACGC chr21:46428154-Alternative-G;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative A tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CTCTAGCGAGCA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActctagcgagcaAGATCGAGACCCGACGC chr21:46428154-Alternative-A;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Reference T tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg ATTCTGTTGTCG CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAattctgttgtcgAGATCGAGACCCGACGC chr21:46428154-Reference-T;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative G tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg GCATCTAACAAG CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgcatctaacaagAGATCGAGACCCGACGC chr21:46428154-Alternative-G;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Reference T tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg ACGCTGGTTGCA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAacgctggttgcaAGATCGAGACCCGACGC chr21:46428154-Reference-T;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative A tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg ACCTGAAGGAGA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAacctgaaggagaAGATCGAGACCCGACGC chr21:46428154-Alternative-A;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Variant C tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGAAGCTCGCTA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgaagctcgctaAGATCGAGACCCGACGC chr21:46428154-Variant-C;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Variant C tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg GCCTTGAACCTT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgccttgaaccttAGATCGAGACCCGACGC chr21:46428154-Variant-C;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Variant C tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg AGCTCGAGTTCG CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAagctcgagttcgAGATCGAGACCCGACGC chr21:46428154-Variant-C;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Reference T tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CGTCGCGAAGAT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgtcgcgaagatAGATCGAGACCCGACGC chr21:46428154-Reference-T;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Alternative A tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg CTGGCGAAGTGT CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActggcgaagtgtAGATCGAGACCCGACGC chr21:46428154-Alternative-A;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Variant C tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg AACGTCGCCATC CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaacgtcgccatcAGATCGAGACCCGACGC chr21:46428154-Variant-C;Patient-104 chr21:46428154-TC DeNovo Patient-104 intergenic 0.000225 0.001895735 -0.56 0.06 0 ITGB2 79400 Variant C tctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctgg AATGCGGTACTA CGACGCGGTCTCTCTCTtctcccccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccaggttcatgccattctcctgcctcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaatgcggtactaAGATCGAGACCCGACGC chr21:46428154-Variant-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacag CGAGTCTGTCGA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAcgagtctgtcgaAGATCGAGACCCGACGC chr21:46428162-Alternative-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Reference A aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GGTTGGAATACT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAggttggaatactAGATCGAGACCCGACGC chr21:46428162-Reference-A;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Reference A aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacag CATCGATCGAAG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAcatcgatcgaagAGATCGAGACCCGACGC chr21:46428162-Reference-A;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Reference A aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacag AGACTGTCGCAG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAagactgtcgcagAGATCGAGACCCGACGC chr21:46428162-Reference-A;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Reference A aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacag CATAAGGCTAAC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAcataaggctaacAGATCGAGACCCGACGC chr21:46428162-Reference-A;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GTTGACTTCCAA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgttgacttccaaAGATCGAGACCCGACGC chr21:46428162-Alternative-T;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Reference A aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GTGGCTAGCCAA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccAggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgtggctagccaaAGATCGAGACCCGACGC chr21:46428162-Reference-A;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacag ACCGTAGCGAAT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAaccgtagcgaatAGATCGAGACCCGACGC chr21:46428162-Alternative-T;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GTGACGTTATGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgtgacgttatgtAGATCGAGACCCGACGC chr21:46428162-Alternative-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacag AAGAACGTCGGC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAaagaacgtcggcAGATCGAGACCCGACGC chr21:46428162-Alternative-T;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacag CGACTAACGAAT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAcgactaacgaatAGATCGAGACCCGACGC chr21:46428162-Alternative-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacag AACGTACGAGAT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAaacgtacgagatAGATCGAGACCCGACGC chr21:46428162-Alternative-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacag ACCTCGGTCATT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAacctcggtcattAGATCGAGACCCGACGC chr21:46428162-Alternative-T;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacag ACCGTTATCAAG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccCggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAaccgttatcaagAGATCGAGACCCGACGC chr21:46428162-Alternative-C;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GAGCTCTATAAG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccTggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgagctctataagAGATCGAGACCCGACGC chr21:46428162-Alternative-T;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Variant G aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacag CGAACTAGAGGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAcgaactagaggtAGATCGAGACCCGACGC chr21:46428162-Variant-G;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Variant G aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GCGTCGCAATGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgcgtcgcaatgtAGATCGAGACCCGACGC chr21:46428162-Variant-G;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Variant G aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GGCAAGTCGGAA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAggcaagtcggaaAGATCGAGACCCGACGC chr21:46428162-Variant-G;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Variant G aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GACAAGGACCGA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgacaaggaccgaAGATCGAGACCCGACGC chr21:46428162-Variant-G;Patient-104 chr21:46428162-AG DeNovo Patient-104 intergenic 6.5e-05 3.91e-05 -0.57 0.05 0 ITGB2 79408 Variant G aggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacag GACCGCTGCAAT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctctgcctcccGggttcatgccattctcctgcctcagcctcccgagtagctgggactacagAGAGGGAGACGGACGTCTCAATAAgaccgctgcaatAGATCGAGACCCGACGC chr21:46428162-Variant-G;Patient-104 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Reference G cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg CATTAGCTTAGG CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAcattagcttaggAGATCGAGACCCGACGC chr21:46838231-Reference-G;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Variant A cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg CGTAGTGACGAT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAcgtagtgacgatAGATCGAGACCCGACGC chr21:46838231-Variant-A;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Variant A cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg ACGAGTTACGAA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAacgagttacgaaAGATCGAGACCCGACGC chr21:46838231-Variant-A;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative T cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AGTGAGCGCACA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAagtgagcgcacaAGATCGAGACCCGACGC chr21:46838231-Alternative-T;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative T cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AATGGTCACGCT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAaatggtcacgctAGATCGAGACCCGACGC chr21:46838231-Alternative-T;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Variant A cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AGATGGACCGAC CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAagatggaccgacAGATCGAGACCCGACGC chr21:46838231-Variant-A;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Reference G cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg GCGGATAATCAT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAgcggataatcatAGATCGAGACCCGACGC chr21:46838231-Reference-G;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative T cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg ACTTCTCACACG CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAacttctcacacgAGATCGAGACCCGACGC chr21:46838231-Alternative-T;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Reference G cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg GCGCGCTTAAGA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAgcgcgcttaagaAGATCGAGACCCGACGC chr21:46838231-Reference-G;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative C cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AGGCTTGCATGC CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAaggcttgcatgcAGATCGAGACCCGACGC chr21:46838231-Alternative-C;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Reference G cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AAGCGCGCTGTT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAaagcgcgctgttAGATCGAGACCCGACGC chr21:46838231-Reference-G;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Variant A cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg GCGATATGACGG CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAgcgatatgacggAGATCGAGACCCGACGC chr21:46838231-Variant-A;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative C cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AGTAGGTGCGCA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAagtaggtgcgcaAGATCGAGACCCGACGC chr21:46838231-Alternative-C;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative T cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg ATTCCGTGCGCA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAattccgtgcgcaAGATCGAGACCCGACGC chr21:46838231-Alternative-T;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative C cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg CGGCCATTACGT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAcggccattacgtAGATCGAGACCCGACGC chr21:46838231-Alternative-C;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Variant A cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg ATTGGCGCTGAC CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccAccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAattggcgctgacAGATCGAGACCCGACGC chr21:46838231-Variant-A;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative C cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg AGGAAGTGTTGT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAaggaagtgttgtAGATCGAGACCCGACGC chr21:46838231-Alternative-C;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative T cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg CTTGAGGTGCGT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccTccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAActtgaggtgcgtAGATCGAGACCCGACGC chr21:46838231-Alternative-T;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Alternative C cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg ACGAACTAACGA CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccCccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAacgaactaacgaAGATCGAGACCCGACGC chr21:46838231-Alternative-C;Patient-17 chr21:46838231-GA DeNovo Patient-17 intronic COL18A1 6.4e-05 9.9e-05 -0.08 1.57 -0.49 COL18A1 13178 Reference G cccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcaggg GTAGATTCACGT CGACGCGGTCTCTCTCTcccccggctgccgaagtggtagggtgggcgtgcccttcccacgcctgcccGccagcatcgctgagggtccccgagctggggagggatgtctctggcagggAGAGGGAGACGGACGTCTCAATAAgtagattcacgtAGATCGAGACCCGACGC chr21:46838231-Reference-G;Patient-17 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative A agcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt ACAACTAACGTC CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAacaactaacgtcAGATCGAGACCCGACGC chr21:47061861-Alternative-A;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative A agcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CACGGTCTAACA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAcacggtctaacaAGATCGAGACCCGACGC chr21:47061861-Alternative-A;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Reference C agcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt ATCCGATCACGT CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAatccgatcacgtAGATCGAGACCCGACGC chr21:47061861-Reference-C;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Reference C agcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt GGATACGCTGAA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAggatacgctgaaAGATCGAGACCCGACGC chr21:47061861-Reference-C;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative A agcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt AGTCGGCCAGAA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAagtcggccagaaAGATCGAGACCCGACGC chr21:47061861-Alternative-A;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Variant T agcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt ACGAGTTCGTAA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAacgagttcgtaaAGATCGAGACCCGACGC chr21:47061861-Variant-T;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative A agcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt GCATGACATCAG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAgcatgacatcagAGATCGAGACCCGACGC chr21:47061861-Alternative-A;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Reference C agcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt AAGATCACATGG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAaagatcacatggAGATCGAGACCCGACGC chr21:47061861-Reference-C;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative A agcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt GGCGAGAATCAA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcAgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAggcgagaatcaaAGATCGAGACCCGACGC chr21:47061861-Alternative-A;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Reference C agcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt GGTGTTCACAAT CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAggtgttcacaatAGATCGAGACCCGACGC chr21:47061861-Reference-C;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Reference C agcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt ATCGATCTGCGG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcCgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAatcgatctgcggAGATCGAGACCCGACGC chr21:47061861-Reference-C;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Variant T agcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt AACTAGTAGTGG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAaactagtagtggAGATCGAGACCCGACGC chr21:47061861-Variant-T;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Variant T agcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt GCATACTTGCTT CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAgcatacttgcttAGATCGAGACCCGACGC chr21:47061861-Variant-T;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Variant T agcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CTCATAATGTGG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAActcataatgtggAGATCGAGACCCGACGC chr21:47061861-Variant-T;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Variant T agcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CGTTAAGTCCGA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcTgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAcgttaagtccgaAGATCGAGACCCGACGC chr21:47061861-Variant-T;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative G agcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CTGGTACGGTCT CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAActggtacggtctAGATCGAGACCCGACGC chr21:47061861-Alternative-G;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative G agcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CAGGTAGTTATC CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAcaggtagttatcAGATCGAGACCCGACGC chr21:47061861-Alternative-G;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative G agcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CAATGATGTTCG CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAcaatgatgttcgAGATCGAGACCCGACGC chr21:47061861-Alternative-G;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative G agcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt CTCGCTTCTATT CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAActcgcttctattAGATCGAGACCCGACGC chr21:47061861-Alternative-G;Patient-87 chr21:47061861-CT Inherited Patient-87 intergenic 0.000327 0.000513 -0.29 0.4 -6.45 SLC19A1 99475 Alternative G agcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggcttttttttttt AGTAACCGTGAA CGACGCGGTCTCTCTCTagcgccccccccgccccactccacattcccttccccgccgactcagcctcGgtagctcgcggacggcccctcctcacgccagcccaggctttttttttttAGAGGGAGACGGACGTCTCAATAAagtaaccgtgaaAGATCGAGACCCGACGC chr21:47061861-Alternative-G;Patient-87 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative C ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GTGTATGTTGCA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAgtgtatgttgcaAGATCGAGACCCGACGC chr21:47379282-Alternative-C;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Reference G ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GGCGCAAGTATA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAggcgcaagtataAGATCGAGACCCGACGC chr21:47379282-Reference-G;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Reference G ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AACTCTAACGAC CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAaactctaacgacAGATCGAGACCCGACGC chr21:47379282-Reference-G;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative T ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AAGTTACCTGGT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAaagttacctggtAGATCGAGACCCGACGC chr21:47379282-Alternative-T;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Reference G ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GCGGTGAGTGAT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAgcggtgagtgatAGATCGAGACCCGACGC chr21:47379282-Reference-G;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative T ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct CAACGAGGTACT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAcaacgaggtactAGATCGAGACCCGACGC chr21:47379282-Alternative-T;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Variant A ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct ATAGTCGCAGTT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAatagtcgcagttAGATCGAGACCCGACGC chr21:47379282-Variant-A;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Variant A ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GTGAACCTTAAG CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAgtgaaccttaagAGATCGAGACCCGACGC chr21:47379282-Variant-A;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Variant A ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GGAACGCTAAGA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAggaacgctaagaAGATCGAGACCCGACGC chr21:47379282-Variant-A;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative T ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GTCTCTTACGCA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAgtctcttacgcaAGATCGAGACCCGACGC chr21:47379282-Alternative-T;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative T ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct GTGATCCGCCTT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAgtgatccgccttAGATCGAGACCCGACGC chr21:47379282-Alternative-T;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Reference G ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AATCTGCGACCG CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAaatctgcgaccgAGATCGAGACCCGACGC chr21:47379282-Reference-G;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Variant A ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct CGGCTACTACGA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAcggctactacgaAGATCGAGACCCGACGC chr21:47379282-Variant-A;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Variant A ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AAGTACCACGTT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcAacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAaagtaccacgttAGATCGAGACCCGACGC chr21:47379282-Variant-A;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Reference G ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct ATTGGACGTGAA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcGacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAattggacgtgaaAGATCGAGACCCGACGC chr21:47379282-Reference-G;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative C ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct ATATTACGCGCT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAatattacgcgctAGATCGAGACCCGACGC chr21:47379282-Alternative-C;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative C ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AGCAGCGCAAGA CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAagcagcgcaagaAGATCGAGACCCGACGC chr21:47379282-Alternative-C;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative T ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AGCTCTAACGAG CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcTacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAagctctaacgagAGATCGAGACCCGACGC chr21:47379282-Alternative-T;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative C ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct CGTTAGGTTCGG CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAcgttaggttcggAGATCGAGACCCGACGC chr21:47379282-Alternative-C;Patient-16 chr21:47379282-GA DeNovo Patient-16 intergenic 0.000159 0.000512821 0.59 10.22 0.05 COL6A1 22380 Alternative C ttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgct AGTAGTCTAGCT CGACGCGGTCTCTCTCTttcagaagacatgagaaatcagtgggcaacaagcatacacaaaggtgttcCacctcattaccaacaaacatgcaaatttaaaccacagcgtggaactgctAGAGGGAGACGGACGTCTCAATAAagtagtctagctAGATCGAGACCCGACGC chr21:47379282-Alternative-C;Patient-16 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative T ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactca GCGGACATGTCA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAgcggacatgtcaAGATCGAGACCCGACGC chr21:47461805-Alternative-T;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative T ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactca GTATAGTGCGCG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAgtatagtgcgcgAGATCGAGACCCGACGC chr21:47461805-Alternative-T;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative T ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactca AATACCGCTGGT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAaataccgctggtAGATCGAGACCCGACGC chr21:47461805-Alternative-T;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative A ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactca ATCGTAGCGTGG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAatcgtagcgtggAGATCGAGACCCGACGC chr21:47461805-Alternative-A;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative A ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactca CGATACCTTCCA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAcgataccttccaAGATCGAGACCCGACGC chr21:47461805-Alternative-A;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative T ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactca GTAACAGCGAGA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAgtaacagcgagaAGATCGAGACCCGACGC chr21:47461805-Alternative-T;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative A ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactca GACAAGGTGATT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAgacaaggtgattAGATCGAGACCCGACGC chr21:47461805-Alternative-A;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative A ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactca ACGGTATAACGA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAacggtataacgaAGATCGAGACCCGACGC chr21:47461805-Alternative-A;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Reference C ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactca ACGAGTTGTTCA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAacgagttgttcaAGATCGAGACCCGACGC chr21:47461805-Reference-C;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Variant G ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactca GAAGTGCGACAG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAgaagtgcgacagAGATCGAGACCCGACGC chr21:47461805-Variant-G;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Variant G ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactca CTATACACGTCC CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAActatacacgtccAGATCGAGACCCGACGC chr21:47461805-Variant-G;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative A ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactca ACTCTTGACACT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactAagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAactcttgacactAGATCGAGACCCGACGC chr21:47461805-Alternative-A;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Alternative T ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactca GGTGACATAAGT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactTagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAggtgacataagtAGATCGAGACCCGACGC chr21:47461805-Alternative-T;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Reference C ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactca CTTAGAGTCAAG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAActtagagtcaagAGATCGAGACCCGACGC chr21:47461805-Reference-C;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Reference C ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactca GGACTCTAAGAA CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAggactctaagaaAGATCGAGACCCGACGC chr21:47461805-Reference-C;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Variant G ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactca CTCAACGCTAAT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAActcaacgctaatAGATCGAGACCCGACGC chr21:47461805-Variant-G;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Reference C ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactca CAATGGTTGGTT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAcaatggttggttAGATCGAGACCCGACGC chr21:47461805-Reference-C;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Reference C ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactca GGTTAACAACAG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactCagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAggttaacaacagAGATCGAGACCCGACGC chr21:47461805-Reference-C;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Variant G ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactca CATAGATGCGAT CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAcatagatgcgatAGATCGAGACCCGACGC chr21:47461805-Variant-G;Patient-81 chr21:47461805-CG DeNovo Patient-81 intergenic 0.000331 0.00768 -0.26 0.49 0 COL6A2 56227 Variant G ctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactca AATGTGGATACG CGACGCGGTCTCTCTCTctcagaaacaccacaactcagacacaccacaactcagacacatcacaactGagacacaccacaactcagacacaccacaactcagaaacatcacaactcaAGAGGGAGACGGACGTCTCAATAAaatgtggatacgAGATCGAGACCCGACGC chr21:47461805-Variant-G;Patient-81 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative T gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgtt CGGCTTGCTTCT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAcggcttgcttctAGATCGAGACCCGACGC chr21:47494169-Alternative-T;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Variant A gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgtt GTACGTTAGGTT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAgtacgttaggttAGATCGAGACCCGACGC chr21:47494169-Variant-A;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative T gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgtt AATGCCTAACAG CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAaatgcctaacagAGATCGAGACCCGACGC chr21:47494169-Alternative-T;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Variant A gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgtt GACGAAGACGAG CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAgacgaagacgagAGATCGAGACCCGACGC chr21:47494169-Variant-A;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Variant A gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgtt GGTACCTGATTA CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAggtacctgattaAGATCGAGACCCGACGC chr21:47494169-Variant-A;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative T gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgtt CTATCGAATGCA CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAActatcgaatgcaAGATCGAGACCCGACGC chr21:47494169-Alternative-T;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Variant A gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgtt GCGTTGTCAGCT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAgcgttgtcagctAGATCGAGACCCGACGC chr21:47494169-Variant-A;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Reference C gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgtt AGTTGGCTTAAC CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAagttggcttaacAGATCGAGACCCGACGC chr21:47494169-Reference-C;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Reference C gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgtt CTCTCGATGTGC CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAActctcgatgtgcAGATCGAGACCCGACGC chr21:47494169-Reference-C;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative G gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgtt AGTCATCGCAGT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAagtcatcgcagtAGATCGAGACCCGACGC chr21:47494169-Alternative-G;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Reference C gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgtt ACCGTGTTATGA CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAaccgtgttatgaAGATCGAGACCCGACGC chr21:47494169-Reference-C;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative T gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgtt AACAGGCGTCCA CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAaacaggcgtccaAGATCGAGACCCGACGC chr21:47494169-Alternative-T;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative G gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgtt CGAGCCGATCTA CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAcgagccgatctaAGATCGAGACCCGACGC chr21:47494169-Alternative-G;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Reference C gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgtt GATCGCCACAAG CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAgatcgccacaagAGATCGAGACCCGACGC chr21:47494169-Reference-C;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Variant A gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgtt CTGCTTCGATAT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataAaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAActgcttcgatatAGATCGAGACCCGACGC chr21:47494169-Variant-A;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative G gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgtt GTCGTGATAGTT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAgtcgtgatagttAGATCGAGACCCGACGC chr21:47494169-Alternative-G;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative G gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgtt ATATAGCACGCT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAatatagcacgctAGATCGAGACCCGACGC chr21:47494169-Alternative-G;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Reference C gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgtt GGTATGAAGTAC CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataCaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAggtatgaagtacAGATCGAGACCCGACGC chr21:47494169-Reference-C;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative G gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgtt CGCCACTTGACT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataGaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAcgccacttgactAGATCGAGACCCGACGC chr21:47494169-Alternative-G;Patient-37 chr21:47494169-CA DeNovo Patient-37 intergenic NA 0.000512821 -0.21 0.67 0 COL6A2 23863 Alternative T gatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgtt CGTACACGATAT CGACGCGGTCTCTCTCTgatagatcccagaaatgctagactcatttaatattaaaaaccaaataataTaattcaccatattaatataaatttttttaagacagagtctcactctgttAGAGGGAGACGGACGTCTCAATAAcgtacacgatatAGATCGAGACCCGACGC chr21:47494169-Alternative-T;Patient-37 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Reference A tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CATCGTGCCGAT CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcatcgtgccgatAGATCGAGACCCGACGC chr21:47792540-Reference-A;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Variant G tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GATGCGTCTAGG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAgatgcgtctaggAGATCGAGACCCGACGC chr21:47792540-Variant-G;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Variant G tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CTTGATTCTGCA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAActtgattctgcaAGATCGAGACCCGACGC chr21:47792540-Variant-G;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Variant G tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GACGACGTTGAG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAgacgacgttgagAGATCGAGACCCGACGC chr21:47792540-Variant-G;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative T tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GGTATTCTCCGC CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAggtattctccgcAGATCGAGACCCGACGC chr21:47792540-Alternative-T;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Variant G tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac AGTCGTGGTAGG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAagtcgtggtaggAGATCGAGACCCGACGC chr21:47792540-Variant-G;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative T tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CTGCGGATATCG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAActgcggatatcgAGATCGAGACCCGACGC chr21:47792540-Alternative-T;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative T tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GCGGTTAAGACG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAgcggttaagacgAGATCGAGACCCGACGC chr21:47792540-Alternative-T;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Reference A tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GATAGGCCATTA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAgataggccattaAGATCGAGACCCGACGC chr21:47792540-Reference-A;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative C tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CGGCTATTCCGA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcggctattccgaAGATCGAGACCCGACGC chr21:47792540-Alternative-C;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative C tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CGTGCGTCGTAA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcgtgcgtcgtaaAGATCGAGACCCGACGC chr21:47792540-Alternative-C;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Reference A tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CAGCTGTTCGTC CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcagctgttcgtcAGATCGAGACCCGACGC chr21:47792540-Reference-A;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative T tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac ATCGAGTGTCGA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAatcgagtgtcgaAGATCGAGACCCGACGC chr21:47792540-Alternative-T;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative C tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac GGACGATGAACA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAggacgatgaacaAGATCGAGACCCGACGC chr21:47792540-Alternative-C;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative C tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac AACGCGGTTATA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAaacgcggttataAGATCGAGACCCGACGC chr21:47792540-Alternative-C;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Variant G tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac ATTACGGATCGT CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaGcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAattacggatcgtAGATCGAGACCCGACGC chr21:47792540-Variant-G;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Reference A tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CGATTGTCGTTA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcgattgtcgttaAGATCGAGACCCGACGC chr21:47792540-Reference-A;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Reference A tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac ATCAAGTTCACG CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaAcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAatcaagttcacgAGATCGAGACCCGACGC chr21:47792540-Reference-A;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative T tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CTGGTGGCTCTT CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaTcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAActggtggctcttAGATCGAGACCCGACGC chr21:47792540-Alternative-T;Patient-69 chr21:47792540-AG DeNovo Patient-69 intronic PCNT 3.2e-05 4.95e-05 0.04 3.19 0.63 PCNT 48503 Alternative C tgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaac CGGTAGCCTACA CGACGCGGTCTCTCTCTtgtgcaaattttaggtgattatggtacatatggtttcaagggggttttaaCcaaggacatgctaagatctcatttctagccataaagtaaggttttgaacAGAGGGAGACGGACGTCTCAATAAcggtagcctacaAGATCGAGACCCGACGC chr21:47792540-Alternative-C;Patient-69 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative A aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGACCAGATTAT CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgaccagattatAGATCGAGACCCGACGC chr21:47802312-Alternative-A;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative G aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc AACGGTAAGAAG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAaacggtaagaagAGATCGAGACCCGACGC chr21:47802312-Alternative-G;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative A aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc ACAGCAGTAACA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAacagcagtaacaAGATCGAGACCCGACGC chr21:47802312-Alternative-A;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative G aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGCAATCTGTGG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgcaatctgtggAGATCGAGACCCGACGC chr21:47802312-Alternative-G;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative A aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GTTGGAACGTAA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAgttggaacgtaaAGATCGAGACCCGACGC chr21:47802312-Alternative-A;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Reference C aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GACCGTATCTAA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAgaccgtatctaaAGATCGAGACCCGACGC chr21:47802312-Reference-C;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative A aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GGTACAGAGCGT CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAggtacagagcgtAGATCGAGACCCGACGC chr21:47802312-Alternative-A;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative G aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc ATTCATTCGTGC CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAattcattcgtgcAGATCGAGACCCGACGC chr21:47802312-Alternative-G;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Reference C aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGTGTTCTAGCG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgtgttctagcgAGATCGAGACCCGACGC chr21:47802312-Reference-C;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Variant T aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGACTTAGCTAA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgacttagctaaAGATCGAGACCCGACGC chr21:47802312-Variant-T;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative G aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGAACGACCAAG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgaacgaccaagAGATCGAGACCCGACGC chr21:47802312-Alternative-G;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Variant T aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GTGTACTCGGCA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAgtgtactcggcaAGATCGAGACCCGACGC chr21:47802312-Variant-T;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Reference C aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc AAGCACGTACTT CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAaagcacgtacttAGATCGAGACCCGACGC chr21:47802312-Reference-C;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative A aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc AGGAGTATGAGA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgAtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAaggagtatgagaAGATCGAGACCCGACGC chr21:47802312-Alternative-A;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Alternative G aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGCCTGGAATGT CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgGtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgcctggaatgtAGATCGAGACCCGACGC chr21:47802312-Alternative-G;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Reference C aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GCAAGCTCGAAC CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAgcaagctcgaacAGATCGAGACCCGACGC chr21:47802312-Reference-C;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Variant T aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc ATCGAGATCGCG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAatcgagatcgcgAGATCGAGACCCGACGC chr21:47802312-Variant-T;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Variant T aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CGATCGTGCACA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcgatcgtgcacaAGATCGAGACCCGACGC chr21:47802312-Variant-T;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Reference C aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc GGTGTTGAGTAA CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgCtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAggtgttgagtaaAGATCGAGACCCGACGC chr21:47802312-Reference-C;Patient-26 chr21:47802312-CT DeNovo Patient-26 intronic PCNT NA 4.95e-05 -0.42 0.16 -1.02 PCNT 58275 Variant T aagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggc CAGCGAGTTAAG CGACGCGGTCTCTCTCTaagcgcaatcacagtgttgtatattcagtgacggaagcgcattcacagtgTtgtgcattcagcagcagaagcgcattcacggtgttgtatattcagtggcAGAGGGAGACGGACGTCTCAATAAcagcgagttaagAGATCGAGACCCGACGC chr21:47802312-Variant-T;Patient-26 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative A actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt ACACCGTTACGC CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAacaccgttacgcAGATCGAGACCCGACGC chr22:17455630-Alternative-A;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative A actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GTAACGTGCGCT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgtaacgtgcgctAGATCGAGACCCGACGC chr22:17455630-Alternative-A;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative A actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GGTGTAACGCAT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAggtgtaacgcatAGATCGAGACCCGACGC chr22:17455630-Alternative-A;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Variant T actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GGCTGAATTAAG CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAggctgaattaagAGATCGAGACCCGACGC chr22:17455630-Variant-T;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Variant T actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt CTATTGGTAGCT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAActattggtagctAGATCGAGACCCGACGC chr22:17455630-Variant-T;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Reference C actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt AGGTGCGCTGAT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAaggtgcgctgatAGATCGAGACCCGACGC chr22:17455630-Reference-C;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative A actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GTATTGAACGGT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgtattgaacggtAGATCGAGACCCGACGC chr22:17455630-Alternative-A;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative A actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GAATGTGGTGCG CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacAgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgaatgtggtgcgAGATCGAGACCCGACGC chr22:17455630-Alternative-A;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Reference C actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt ACCTTCGACGCT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAaccttcgacgctAGATCGAGACCCGACGC chr22:17455630-Reference-C;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Variant T actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt ACTAACAACGGC CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAactaacaacggcAGATCGAGACCCGACGC chr22:17455630-Variant-T;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Reference C actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt CTCATTCCAAGA CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAActcattccaagaAGATCGAGACCCGACGC chr22:17455630-Reference-C;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Reference C actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt ACGACGATGACG CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAacgacgatgacgAGATCGAGACCCGACGC chr22:17455630-Reference-C;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Reference C actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GGAACTTGTCTA CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacCgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAggaacttgtctaAGATCGAGACCCGACGC chr22:17455630-Reference-C;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Variant T actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GGTAGTTAAGGT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAggtagttaaggtAGATCGAGACCCGACGC chr22:17455630-Variant-T;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Variant T actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt CGATCATACGAT CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacTgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAcgatcatacgatAGATCGAGACCCGACGC chr22:17455630-Variant-T;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative G actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GTACGTTCTGAA CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgtacgttctgaaAGATCGAGACCCGACGC chr22:17455630-Alternative-G;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative G actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GTGTAGTCACCG CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgtgtagtcaccgAGATCGAGACCCGACGC chr22:17455630-Alternative-G;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative G actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GTGAACTCAACC CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgtgaactcaaccAGATCGAGACCCGACGC chr22:17455630-Alternative-G;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative G actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GGCTCTATTGAC CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAggctctattgacAGATCGAGACCCGACGC chr22:17455630-Alternative-G;Patient-21 chr22:17455630-CT DeNovo Patient-21 intronic GAB4 NA 4.95e-05 -0.14 1.1 0.16 GAB4 33481 Alternative G actttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgattt GCCAATACTATC CGACGCGGTCTCTCTCTactttaaaaacctaaatgatgggtggctggcaagatggccaaataggaacGgctctggtctgcagctcccagcgagatcaacgcagaaggtgggtgatttAGAGGGAGACGGACGTCTCAATAAgccaatactatcAGATCGAGACCCGACGC chr22:17455630-Alternative-G;Patient-21 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative T aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GGCAATAAGACG CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAggcaataagacgAGATCGAGACCCGACGC chr22:17681989-Alternative-T;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative G aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg AGTAGTAGAGCT CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAagtagtagagctAGATCGAGACCCGACGC chr22:17681989-Alternative-G;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative T aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg CGCATCACTTAA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAcgcatcacttaaAGATCGAGACCCGACGC chr22:17681989-Alternative-T;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative G aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg CGAATCCGCCTA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAcgaatccgcctaAGATCGAGACCCGACGC chr22:17681989-Alternative-G;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative G aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GAGTGCTTGACA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgagtgcttgacaAGATCGAGACCCGACGC chr22:17681989-Alternative-G;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Reference C aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GTTGGCATAGTT CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgttggcatagttAGATCGAGACCCGACGC chr22:17681989-Reference-C;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative T aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GTCTATATGCCT CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgtctatatgcctAGATCGAGACCCGACGC chr22:17681989-Alternative-T;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Reference C aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg CACGTCAACACG CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAcacgtcaacacgAGATCGAGACCCGACGC chr22:17681989-Reference-C;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative T aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg AAGTCGCGTACA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAaagtcgcgtacaAGATCGAGACCCGACGC chr22:17681989-Alternative-T;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative T aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GTCGCAATAGGT CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaTtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgtcgcaataggtAGATCGAGACCCGACGC chr22:17681989-Alternative-T;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Variant A aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg AAGCGTTCGCAG CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAaagcgttcgcagAGATCGAGACCCGACGC chr22:17681989-Variant-A;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative G aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GTCTCTGATGAA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgtctctgatgaaAGATCGAGACCCGACGC chr22:17681989-Alternative-G;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Variant A aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg ATCGTGGCTCGA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAatcgtggctcgaAGATCGAGACCCGACGC chr22:17681989-Variant-A;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Variant A aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg ACGAGATAGTAC CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAacgagatagtacAGATCGAGACCCGACGC chr22:17681989-Variant-A;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Variant A aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg AACGCTAGTCGC CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAaacgctagtcgcAGATCGAGACCCGACGC chr22:17681989-Variant-A;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Reference C aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg CGACTTGCCATC CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAcgacttgccatcAGATCGAGACCCGACGC chr22:17681989-Reference-C;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Reference C aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg CGGAACTAATCA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAcggaactaatcaAGATCGAGACCCGACGC chr22:17681989-Reference-C;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Variant A aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg GTATAGGCCGGT CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaAtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAgtataggccggtAGATCGAGACCCGACGC chr22:17681989-Variant-A;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Alternative G aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg ATTCGGTCGTAA CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaGtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAattcggtcgtaaAGATCGAGACCCGACGC chr22:17681989-Alternative-G;Patient-27 chr22:17681989-CA DeNovo Patient-27 intronic ADA2 NA 4.95e-05 0.21 5.92 0.45 ADA2 8789 Reference C aatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttg AATGACCGTAAG CGACGCGGTCTCTCTCTaatacaaaaaattagccaggcatggtggtgtgcatctgtagtcccagctaCtcgggaggctgaggcacgagaatcgcttgaacctgggaggtggaggttgAGAGGGAGACGGACGTCTCAATAAaatgaccgtaagAGATCGAGACCCGACGC chr22:17681989-Reference-C;Patient-27 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Reference G gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GGCTTGATATGA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAggcttgatatgaAGATCGAGACCCGACGC chr22:17876969-Reference-G;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Variant T gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GTAATAGGTCGA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAgtaataggtcgaAGATCGAGACCCGACGC chr22:17876969-Variant-T;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Reference G gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GTGGCTACGTCA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAgtggctacgtcaAGATCGAGACCCGACGC chr22:17876969-Reference-G;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Reference G gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CGTAGTAAGCTT CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAcgtagtaagcttAGATCGAGACCCGACGC chr22:17876969-Reference-G;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Variant T gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GATTCGCCTGAA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAgattcgcctgaaAGATCGAGACCCGACGC chr22:17876969-Variant-T;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Reference G gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CGTGCTAGTCAC CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAcgtgctagtcacAGATCGAGACCCGACGC chr22:17876969-Reference-G;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Reference G gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CACGTGTACGCA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggGacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAcacgtgtacgcaAGATCGAGACCCGACGC chr22:17876969-Reference-G;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative A gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CTAGGCTAGCGA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAActaggctagcgaAGATCGAGACCCGACGC chr22:17876969-Alternative-A;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Variant T gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagcttttttttt AGTGCTTCGTGG CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAagtgcttcgtggAGATCGAGACCCGACGC chr22:17876969-Variant-T;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative C gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagcttttttttt AAGGTGAACGGT CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAaaggtgaacggtAGATCGAGACCCGACGC chr22:17876969-Alternative-C;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative A gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagcttttttttt ACGCGACCTAAG CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAacgcgacctaagAGATCGAGACCCGACGC chr22:17876969-Alternative-A;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative C gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CGGAAGGTGAAC CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAcggaaggtgaacAGATCGAGACCCGACGC chr22:17876969-Alternative-C;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Variant T gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CGTTCAACGACT CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAcgttcaacgactAGATCGAGACCCGACGC chr22:17876969-Variant-T;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative C gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagcttttttttt ATCCTCGTTCGG CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAatcctcgttcggAGATCGAGACCCGACGC chr22:17876969-Alternative-C;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Variant T gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GGTTAGCTTAGT CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggTacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAggttagcttagtAGATCGAGACCCGACGC chr22:17876969-Variant-T;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative A gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GGTAACATCGGC CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAggtaacatcggcAGATCGAGACCCGACGC chr22:17876969-Alternative-A;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative C gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagcttttttttt ATCCTCGTGGAG CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAatcctcgtggagAGATCGAGACCCGACGC chr22:17876969-Alternative-C;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative A gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagcttttttttt AATACGTGGAAC CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAaatacgtggaacAGATCGAGACCCGACGC chr22:17876969-Alternative-A;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative A gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagcttttttttt CTACGTCGAATA CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggAacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAActacgtcgaataAGATCGAGACCCGACGC chr22:17876969-Alternative-A;Patient-89 chr22:17876969-GT Inherited Patient-89 intergenic 6.4e-05 0.00103 0.01 2.73 1.28 CECR2 79657 Alternative C gggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagcttttttttt GTACGACTTCGG CGACGCGGTCTCTCTCTgggtgggacctgcatgctaggtgttatacagtgttacatacaatgcatggCacattctccacagtgaagaatttgctccctcctaaagagctttttttttAGAGGGAGACGGACGTCTCAATAAgtacgacttcggAGATCGAGACCCGACGC chr22:17876969-Alternative-C;Patient-89 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative A gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CGTCAGATACAC CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAcgtcagatacacAGATCGAGACCCGACGC chr22:18521830-Alternative-A;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative A gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc AACAATGCGAAC CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAaacaatgcgaacAGATCGAGACCCGACGC chr22:18521830-Alternative-A;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative C gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CTTATGCCTGAT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAActtatgcctgatAGATCGAGACCCGACGC chr22:18521830-Alternative-C;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Reference T gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GACCGTCACACT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAgaccgtcacactAGATCGAGACCCGACGC chr22:18521830-Reference-T;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Variant G gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc ATATGCTCAAGG CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAatatgctcaaggAGATCGAGACCCGACGC chr22:18521830-Variant-G;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Variant G gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CACATCGTATGT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAcacatcgtatgtAGATCGAGACCCGACGC chr22:18521830-Variant-G;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative C gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GGATCTAGGCCT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAggatctaggcctAGATCGAGACCCGACGC chr22:18521830-Alternative-C;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative C gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CTAGTCTGACGC CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAActagtctgacgcAGATCGAGACCCGACGC chr22:18521830-Alternative-C;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Variant G gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc AAGAATGGCTGT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAaagaatggctgtAGATCGAGACCCGACGC chr22:18521830-Variant-G;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative A gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc ATCCTGTTCGAT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAatcctgttcgatAGATCGAGACCCGACGC chr22:18521830-Alternative-A;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative A gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GTAGGTACATTC CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAgtaggtacattcAGATCGAGACCCGACGC chr22:18521830-Alternative-A;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative C gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GTAAGCTTCGAT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAgtaagcttcgatAGATCGAGACCCGACGC chr22:18521830-Alternative-C;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Variant G gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CATCTCAGTTGT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAcatctcagttgtAGATCGAGACCCGACGC chr22:18521830-Variant-G;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Reference T gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GAAGATCGTACG CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAgaagatcgtacgAGATCGAGACCCGACGC chr22:18521830-Reference-T;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative A gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GGAACAAGCCGA CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatAtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAggaacaagccgaAGATCGAGACCCGACGC chr22:18521830-Alternative-A;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Variant G gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CATGCGGTGGAT CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatGtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAcatgcggtggatAGATCGAGACCCGACGC chr22:18521830-Variant-G;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Alternative C gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc ACTAACTACCGG CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatCtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAactaactaccggAGATCGAGACCCGACGC chr22:18521830-Alternative-C;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Reference T gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CACGAACTCTAA CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAcacgaactctaaAGATCGAGACCCGACGC chr22:18521830-Reference-T;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Reference T gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc CTACCGCGAATC CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAActaccgcgaatcAGATCGAGACCCGACGC chr22:18521830-Reference-T;Patient-15 chr22:18521830-TG DeNovo Patient-15 intergenic NA 3.92e-05 0.2 5.91 0.05 PEX26 38855 Reference T gtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctc GACGTTGTATCA CGACGCGGTCTCTCTCTgtagctgggactataggcgcccgccaccatgcccggctaattttttgtatTtttagtagagatggggtttcaccgtgttaaccaggatggtcttgatctcAGAGGGAGACGGACGTCTCAATAAgacgttgtatcaAGATCGAGACCCGACGC chr22:18521830-Reference-T;Patient-15 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative G taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGTAGACTTGAT CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcgtagacttgatAGATCGAGACCCGACGC chr22:19490206-Alternative-G;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative G taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac ACTCTCGTAGCG CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAactctcgtagcgAGATCGAGACCCGACGC chr22:19490206-Alternative-G;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative T taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGAAGATACGCG CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcgaagatacgcgAGATCGAGACCCGACGC chr22:19490206-Alternative-T;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative G taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GAGATACTCCTA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgagatactcctaAGATCGAGACCCGACGC chr22:19490206-Alternative-G;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative T taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGCGATCTTATA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcgcgatcttataAGATCGAGACCCGACGC chr22:19490206-Alternative-T;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative G taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GCAGGATCCATA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgcaggatccataAGATCGAGACCCGACGC chr22:19490206-Alternative-G;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative T taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GTTAACCGGTGT CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgttaaccggtgtAGATCGAGACCCGACGC chr22:19490206-Alternative-T;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative T taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GGCACGATGTTC CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAggcacgatgttcAGATCGAGACCCGACGC chr22:19490206-Alternative-T;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Reference A taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GGTTCGTATGAA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAggttcgtatgaaAGATCGAGACCCGACGC chr22:19490206-Reference-A;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative G taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGCTTAGCTACC CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactGaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcgcttagctaccAGATCGAGACCCGACGC chr22:19490206-Alternative-G;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Alternative T taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GTACGGTTGTGC CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactTaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgtacggttgtgcAGATCGAGACCCGACGC chr22:19490206-Alternative-T;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Variant C taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac AAGTTACACGCT CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAaagttacacgctAGATCGAGACCCGACGC chr22:19490206-Variant-C;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Reference A taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CAGCATACTCAA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcagcatactcaaAGATCGAGACCCGACGC chr22:19490206-Reference-A;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Variant C taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GAATATTCTGCG CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgaatattctgcgAGATCGAGACCCGACGC chr22:19490206-Variant-C;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Variant C taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GTTCGACACCTA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAgttcgacacctaAGATCGAGACCCGACGC chr22:19490206-Variant-C;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Reference A taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac GGCAATAAGTGT CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAggcaataagtgtAGATCGAGACCCGACGC chr22:19490206-Reference-A;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Variant C taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGCATAACTAAG CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcgcataactaagAGATCGAGACCCGACGC chr22:19490206-Variant-C;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Variant C taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGGCGTCACTTA CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactCaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcggcgtcacttaAGATCGAGACCCGACGC chr22:19490206-Variant-C;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Reference A taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac AACCGTGGTTAT CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAaaccgtggttatAGATCGAGACCCGACGC chr22:19490206-Reference-A;Patient-43 chr22:19490206-AC DeNovo Patient-43 intronic CDC45 NA 4.95e-05 1.17 14.3 0.24 CDC45 22856 Reference A taaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttac CGGAAGGAGAAG CGACGCGGTCTCTCTCTtaaataaactttgtttatcccagtaggtaattcagtgaaggctgtgaactAaaattttgaataaagcagtttctatagcagtttgattttaaaaacttacAGAGGGAGACGGACGTCTCAATAAcggaaggagaagAGATCGAGACCCGACGC chr22:19490206-Reference-A;Patient-43 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Reference C acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CAACATGTCAAG CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAcaacatgtcaagAGATCGAGACCCGACGC chr22:19712435-Reference-C;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Reference C acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GGACATAACAGT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAggacataacagtAGATCGAGACCCGACGC chr22:19712435-Reference-C;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Reference C acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga ACCTACTCGACC CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAacctactcgaccAGATCGAGACCCGACGC chr22:19712435-Reference-C;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative A acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GCCAATGGATAT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgccaatggatatAGATCGAGACCCGACGC chr22:19712435-Alternative-A;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative A acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CGGAGCGCAATT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAcggagcgcaattAGATCGAGACCCGACGC chr22:19712435-Alternative-A;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Reference C acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GAATGGTATGCA CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgaatggtatgcaAGATCGAGACCCGACGC chr22:19712435-Reference-C;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative A acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GCGTAGATCGAC CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgcgtagatcgacAGATCGAGACCCGACGC chr22:19712435-Alternative-A;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative A acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GATGTAAGTCGA CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgatgtaagtcgaAGATCGAGACCCGACGC chr22:19712435-Alternative-A;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Reference C acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GTTCCAGTCAAG CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctCcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgttccagtcaagAGATCGAGACCCGACGC chr22:19712435-Reference-C;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative T acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga AACAACGCGTGC CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAaacaacgcgtgcAGATCGAGACCCGACGC chr22:19712435-Alternative-T;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Variant G acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga ACTAGCGATCGG CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAactagcgatcggAGATCGAGACCCGACGC chr22:19712435-Variant-G;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Variant G acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CTCGTAACCGGT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAActcgtaaccggtAGATCGAGACCCGACGC chr22:19712435-Variant-G;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative A acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GTGTCGCTCGAA CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctAcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgtgtcgctcgaaAGATCGAGACCCGACGC chr22:19712435-Alternative-A;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Variant G acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GTCGTTCGTGCT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgtcgttcgtgctAGATCGAGACCCGACGC chr22:19712435-Variant-G;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative T acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga ATAGACGATGCA CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAatagacgatgcaAGATCGAGACCCGACGC chr22:19712435-Alternative-T;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative T acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GTCATCAAGTGT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgtcatcaagtgtAGATCGAGACCCGACGC chr22:19712435-Alternative-T;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative T acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CAATAACGGTCT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAcaataacggtctAGATCGAGACCCGACGC chr22:19712435-Alternative-T;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Variant G acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CGCAGAATGACG CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAcgcagaatgacgAGATCGAGACCCGACGC chr22:19712435-Variant-G;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Variant G acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga GTGTACTAGCGG CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctGcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAgtgtactagcggAGATCGAGACCCGACGC chr22:19712435-Variant-G;Patient-78 chr22:19712435-CG DeNovo Patient-78 intergenic NA 0.00016 0.17 5.31 -4.24 GP1BB 1368 Alternative T acatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagaga CGTGTGAAGCGT CGACGCGGTCTCTCTCTacatgcccaccctaacctcaggggcagacaggagtcagtgggtgacctctTcccttccagacacactcccaaaaggccacatgggaaggcatgagagagaAGAGGGAGACGGACGTCTCAATAAcgtgtgaagcgtAGATCGAGACCCGACGC chr22:19712435-Alternative-T;Patient-78 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Reference C agaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGCCTCGTACTA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcgcctcgtactaAGATCGAGACCCGACGC chr22:19948049-Reference-C;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative A agaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CTAGTCTTGGCG CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAActagtcttggcgAGATCGAGACCCGACGC chr22:19948049-Alternative-A;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Reference C agaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg GGATATGTCACT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAggatatgtcactAGATCGAGACCCGACGC chr22:19948049-Reference-C;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Variant T agaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg GCATAATGACGA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAgcataatgacgaAGATCGAGACCCGACGC chr22:19948049-Variant-T;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Variant T agaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGACGACAACGA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcgacgacaacgaAGATCGAGACCCGACGC chr22:19948049-Variant-T;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative A agaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg AGCTCTGGCACA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAagctctggcacaAGATCGAGACCCGACGC chr22:19948049-Alternative-A;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Reference C agaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg GCGACGTTGATT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAgcgacgttgattAGATCGAGACCCGACGC chr22:19948049-Reference-C;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative G agaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CTCGTCTGTCCT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAActcgtctgtcctAGATCGAGACCCGACGC chr22:19948049-Alternative-G;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative A agaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg GGCTTGTTAGAA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAggcttgttagaaAGATCGAGACCCGACGC chr22:19948049-Alternative-A;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative G agaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg ACGGTATGTAAG CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAacggtatgtaagAGATCGAGACCCGACGC chr22:19948049-Alternative-G;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative A agaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGTGCGACACTT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcgtgcgacacttAGATCGAGACCCGACGC chr22:19948049-Alternative-A;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative A agaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg AGACGGTCATAA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaAgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAagacggtcataaAGATCGAGACCCGACGC chr22:19948049-Alternative-A;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Reference C agaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGGCGTGAATCA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcggcgtgaatcaAGATCGAGACCCGACGC chr22:19948049-Reference-C;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Reference C agaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CACATTCTGCCA CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaCgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcacattctgccaAGATCGAGACCCGACGC chr22:19948049-Reference-C;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Variant T agaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg GTACGAGGTAAG CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAgtacgaggtaagAGATCGAGACCCGACGC chr22:19948049-Variant-T;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Variant T agaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGTGTTGGACGT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcgtgttggacgtAGATCGAGACCCGACGC chr22:19948049-Variant-T;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Variant T agaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CAACGATTAAGG CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaTgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcaacgattaaggAGATCGAGACCCGACGC chr22:19948049-Variant-T;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative G agaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg CGTAAGCGGCAT CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAcgtaagcggcatAGATCGAGACCCGACGC chr22:19948049-Alternative-G;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative G agaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg ATCGGATTAACC CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAatcggattaaccAGATCGAGACCCGACGC chr22:19948049-Alternative-G;Patient-56 chr22:19948049-CT DeNovo Patient-56 intronic COMT 9.6e-05 0.000159744 -0.32 0.32 -3 COMT 18785 Alternative G agaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtggg ACCACAACCAAC CGACGCGGTCTCTCTCTagaataaggacactgtccttagggaagcaccatctcttgttttttccccaGgagccctgtgggtcatggcacgtcctgccccgctgggaaacacagtgggAGAGGGAGACGGACGTCTCAATAAaccacaaccaacAGATCGAGACCCGACGC chr22:19948049-Alternative-G;Patient-56 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative A acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CGCACGACATAT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAcgcacgacatatAGATCGAGACCCGACGC chr22:20257204-Alternative-A;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative G acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CTATCGCTGACA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAActatcgctgacaAGATCGAGACCCGACGC chr22:20257204-Alternative-G;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative A acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GATTCGCATCTT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAgattcgcatcttAGATCGAGACCCGACGC chr22:20257204-Alternative-A;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative G acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagc AGTCGGACGCTT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAagtcggacgcttAGATCGAGACCCGACGC chr22:20257204-Alternative-G;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Reference C acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CGGTCAACACGA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAcggtcaacacgaAGATCGAGACCCGACGC chr22:20257204-Reference-C;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Variant T acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CATCGTCCGGAT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAcatcgtccggatAGATCGAGACCCGACGC chr22:20257204-Variant-T;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Reference C acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagc ATAGGTCGTCGC CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAataggtcgtcgcAGATCGAGACCCGACGC chr22:20257204-Reference-C;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Variant T acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CACGAAGATCCT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAcacgaagatcctAGATCGAGACCCGACGC chr22:20257204-Variant-T;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Reference C acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagc AACTCGGTGAAC CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAaactcggtgaacAGATCGAGACCCGACGC chr22:20257204-Reference-C;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Variant T acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagc AAGGCGCGTCAT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAaaggcgcgtcatAGATCGAGACCCGACGC chr22:20257204-Variant-T;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative A acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GGTGATCATCCT CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAggtgatcatcctAGATCGAGACCCGACGC chr22:20257204-Alternative-A;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Reference C acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GACGTCACGAAG CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAgacgtcacgaagAGATCGAGACCCGACGC chr22:20257204-Reference-C;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative A acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GGAGGACGTGAA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAggaggacgtgaaAGATCGAGACCCGACGC chr22:20257204-Alternative-A;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Reference C acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GCCGGTAGATCA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaCactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAgccggtagatcaAGATCGAGACCCGACGC chr22:20257204-Reference-C;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Variant T acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagc AGCGTCGATAGA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAagcgtcgatagaAGATCGAGACCCGACGC chr22:20257204-Variant-T;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative A acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GCGCAATCAAGG CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaAactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAgcgcaatcaaggAGATCGAGACCCGACGC chr22:20257204-Alternative-A;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative G acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagc ATCGACGTCGCA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAatcgacgtcgcaAGATCGAGACCCGACGC chr22:20257204-Alternative-G;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Variant T acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagc CTAGCTACGACG CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaTactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAActagctacgacgAGATCGAGACCCGACGC chr22:20257204-Variant-T;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative G acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagc AGAATCTCGCTA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAagaatctcgctaAGATCGAGACCCGACGC chr22:20257204-Alternative-G;Patient-53 chr22:20257204-CT DeNovo Patient-53 intergenic NA 0.000512821 0.07 3.73 1.13 RTN4R 1387 Alternative G acccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagc GTAGGAGATAGA CGACGCGGTCTCTCTCTacccccagccactctgtcccctggcctcctgaaggggtgggctgtgcacaGactgccacctccccagagggtgctggctgccgagtgccaccagctcagcAGAGGGAGACGGACGTCTCAATAAgtaggagatagaAGATCGAGACCCGACGC chr22:20257204-Alternative-G;Patient-53 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Variant G ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacaca ATAGGCAGTAGT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAataggcagtagtAGATCGAGACCCGACGC chr22:21068626-Variant-G;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Variant G ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacaca GAGTAGCTCGTC CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgagtagctcgtcAGATCGAGACCCGACGC chr22:21068626-Variant-G;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative T ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacaca ATCGCAGTTGTT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAatcgcagttgttAGATCGAGACCCGACGC chr22:21068626-Alternative-T;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Variant G ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacaca ACTGTCATCGAA CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAactgtcatcgaaAGATCGAGACCCGACGC chr22:21068626-Variant-G;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative T ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacaca AAGGCACCAACT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAaaggcaccaactAGATCGAGACCCGACGC chr22:21068626-Alternative-T;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative T ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacaca GGCTAGGTTAGG CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAggctaggttaggAGATCGAGACCCGACGC chr22:21068626-Alternative-T;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative T ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacaca CTCGGCTAACGT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAActcggctaacgtAGATCGAGACCCGACGC chr22:21068626-Alternative-T;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative A ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacaca GATAGCCGGTTC CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgatagccggttcAGATCGAGACCCGACGC chr22:21068626-Alternative-A;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative T ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacaca CAACGAGCCAAC CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaTagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAcaacgagccaacAGATCGAGACCCGACGC chr22:21068626-Alternative-T;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative A ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacaca GGCTTAACGGAG CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAggcttaacggagAGATCGAGACCCGACGC chr22:21068626-Alternative-A;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Reference C ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacaca GGTCTTGGACGT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAggtcttggacgtAGATCGAGACCCGACGC chr22:21068626-Reference-C;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative A ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacaca GGTTAACGCCAC CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAggttaacgccacAGATCGAGACCCGACGC chr22:21068626-Alternative-A;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative A ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacaca GATTGGTACGCA CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgattggtacgcaAGATCGAGACCCGACGC chr22:21068626-Alternative-A;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Variant G ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacaca ATCGAATAGCGT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAatcgaatagcgtAGATCGAGACCCGACGC chr22:21068626-Variant-G;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Alternative A ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacaca GTACGCTTGGAC CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaAagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgtacgcttggacAGATCGAGACCCGACGC chr22:21068626-Alternative-A;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Reference C ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacaca AGCATCAGAGCG CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAagcatcagagcgAGATCGAGACCCGACGC chr22:21068626-Reference-C;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Reference C ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacaca GCGTACGTACTT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgcgtacgtacttAGATCGAGACCCGACGC chr22:21068626-Reference-C;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Reference C ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacaca ATTCAACCGGAT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAattcaaccggatAGATCGAGACCCGACGC chr22:21068626-Reference-C;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Reference C ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacaca GATACCTTCGTT CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaCagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAgataccttcgttAGATCGAGACCCGACGC chr22:21068626-Reference-C;Patient-87 chr22:21068626-CG DeNovo Patient-87 intronic PI4KA NA 0.000148 -0.19 0.76 -2.25 SERPIND1 59756 Variant G ttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacaca GGCTTGTCTTCG CGACGCGGTCTCTCTCTttgagctccctgccatcccccaatgagggatctgactgagtgagggcagaGagatggacagacatcatcttttatggagagctatactaaatttaacacaAGAGGGAGACGGACGTCTCAATAAggcttgtcttcgAGATCGAGACCCGACGC chr22:21068626-Variant-G;Patient-87 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Variant A ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATCTCATGCTGT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAatctcatgctgtAGATCGAGACCCGACGC chr22:22196439-Variant-A;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative T ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GTACCACCTTCG CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtaccaccttcgAGATCGAGACCCGACGC chr22:22196439-Alternative-T;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Variant A ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CTTGTTCACCTT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActtgttcaccttAGATCGAGACCCGACGC chr22:22196439-Variant-A;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Variant A ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATTCGGCGATAT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAattcggcgatatAGATCGAGACCCGACGC chr22:22196439-Variant-A;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Variant A ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AACCACGTGATT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaaccacgtgattAGATCGAGACCCGACGC chr22:22196439-Variant-A;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative C ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CGTCCATAACGG CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcgtccataacggAGATCGAGACCCGACGC chr22:22196439-Alternative-C;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative C ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GCGGAACAGACA CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgcggaacagacaAGATCGAGACCCGACGC chr22:22196439-Alternative-C;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Variant A ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CATTGAGTTGCA CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacAcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcattgagttgcaAGATCGAGACCCGACGC chr22:22196439-Variant-A;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative T ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACTCCTTCGTGG CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAactccttcgtggAGATCGAGACCCGACGC chr22:22196439-Alternative-T;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative C ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AGGTACGCGCTA CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaggtacgcgctaAGATCGAGACCCGACGC chr22:22196439-Alternative-C;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative C ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACAGAGATCGCA CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacagagatcgcaAGATCGAGACCCGACGC chr22:22196439-Alternative-C;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative T ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GTCGTTCGTTCG CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgtcgttcgttcgAGATCGAGACCCGACGC chr22:22196439-Alternative-T;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Reference G ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CAATGGTAAGGT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcaatggtaaggtAGATCGAGACCCGACGC chr22:22196439-Reference-G;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative T ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg GTTACTGGAATC CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAgttactggaatcAGATCGAGACCCGACGC chr22:22196439-Alternative-T;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Reference G ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CTCATACGTCGC CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAActcatacgtcgcAGATCGAGACCCGACGC chr22:22196439-Reference-G;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Reference G ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg CATCTTAACGCT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAcatcttaacgctAGATCGAGACCCGACGC chr22:22196439-Reference-G;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Reference G ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AGCACCATGGAT CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAagcaccatggatAGATCGAGACCCGACGC chr22:22196439-Reference-G;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative T ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg AAGTGTACGTTC CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacTcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAaagtgtacgttcAGATCGAGACCCGACGC chr22:22196439-Alternative-T;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Reference G ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ATCTAGCTCGGC CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacGcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAatctagctcggcAGATCGAGACCCGACGC chr22:22196439-Reference-G;Patient-8 chr22:22196439-GA Inherited Patient-8 intronic MAPK1 0.000926 0.000247 -0.14 1.07 0.15 MAPK1 25530 Alternative C ctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttgg ACACATAGCGCG CGACGCGGTCTCTCTCTctcctccctcagcctcctgagtagctgggactacaggcatgtgccgccacCcccagctaatttttgtatttttagtagagatggggtttcaccatgttggAGAGGGAGACGGACGTCTCAATAAacacatagcgcgAGATCGAGACCCGACGC chr22:22196439-Alternative-C;Patient-8 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative A tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca ATTATTGCCGCT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAattattgccgctAGATCGAGACCCGACGC chr22:22250588-Alternative-A;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative T tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca CTGGTTAGCTAA CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAActggttagctaaAGATCGAGACCCGACGC chr22:22250588-Alternative-T;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative T tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GTATCAAGCAAG CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgtatcaagcaagAGATCGAGACCCGACGC chr22:22250588-Alternative-T;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative A tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GGTTCGACGTGT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAggttcgacgtgtAGATCGAGACCCGACGC chr22:22250588-Alternative-A;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative A tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GGATACGCACTA CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAggatacgcactaAGATCGAGACCCGACGC chr22:22250588-Alternative-A;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative A tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca AACAGATCGGTT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAaacagatcggttAGATCGAGACCCGACGC chr22:22250588-Alternative-A;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative A tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GCAACGTTCTGG CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcAatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgcaacgttctggAGATCGAGACCCGACGC chr22:22250588-Alternative-A;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Variant C tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca AGATGGTCGAAT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAagatggtcgaatAGATCGAGACCCGACGC chr22:22250588-Variant-C;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative T tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GCGGTAAGCAGT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgcggtaagcagtAGATCGAGACCCGACGC chr22:22250588-Alternative-T;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Variant C tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GCATAACGAAGG CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgcataacgaaggAGATCGAGACCCGACGC chr22:22250588-Variant-C;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative T tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca CGGCACAATATC CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAcggcacaatatcAGATCGAGACCCGACGC chr22:22250588-Alternative-T;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Variant C tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca ACAACGCCATTA CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAacaacgccattaAGATCGAGACCCGACGC chr22:22250588-Variant-C;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Variant C tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca AACCGTTAACAC CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAaaccgttaacacAGATCGAGACCCGACGC chr22:22250588-Variant-C;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Variant C tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca AGGACGGCGTAA CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcCatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAaggacggcgtaaAGATCGAGACCCGACGC chr22:22250588-Variant-C;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Alternative T tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GCGGTGGAATCA CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcTatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgcggtggaatcaAGATCGAGACCCGACGC chr22:22250588-Alternative-T;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Reference G tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca CGAGCTGACGTT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAcgagctgacgttAGATCGAGACCCGACGC chr22:22250588-Reference-G;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Reference G tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca GCGGAGCGTAAT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAgcggagcgtaatAGATCGAGACCCGACGC chr22:22250588-Reference-G;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Reference G tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca ATACGTGAACGC CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAatacgtgaacgcAGATCGAGACCCGACGC chr22:22250588-Reference-G;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Reference G tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca CTCAATCTGCCG CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAActcaatctgccgAGATCGAGACCCGACGC chr22:22250588-Reference-G;Patient-44 chr22:22250588-GC Inherited Patient-44 intergenic NA 0.000513 0.43 8.69 0.13 MAPK1 28617 Reference G tttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctccca CGTGTTATCTGT CGACGCGGTCTCTCTCTtttttgagacagcatctaactctacagcccaggctggggtgcagtggtgcGatctcggctcactgcagctttgacctcccaggctcaagtgatcctcccaAGAGGGAGACGGACGTCTCAATAAcgtgttatctgtAGATCGAGACCCGACGC chr22:22250588-Reference-G;Patient-44 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Reference T agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag CACGCGTGTTGT CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAcacgcgtgttgtAGATCGAGACCCGACGC chr22:23404216-Reference-T;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative G agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GACGGCATACGA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgacggcatacgaAGATCGAGACCCGACGC chr22:23404216-Alternative-G;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Reference T agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag CGTGTACATCTT CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAcgtgtacatcttAGATCGAGACCCGACGC chr22:23404216-Reference-T;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative A agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag ATCGCTTACACG CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAatcgcttacacgAGATCGAGACCCGACGC chr22:23404216-Alternative-A;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Reference T agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GGTAGTCGAACG CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAggtagtcgaacgAGATCGAGACCCGACGC chr22:23404216-Reference-T;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Reference T agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GCCACCACGTTA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgccaccacgttaAGATCGAGACCCGACGC chr22:23404216-Reference-T;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Reference T agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag CATTACTATCGG CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaTtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAcattactatcggAGATCGAGACCCGACGC chr22:23404216-Reference-T;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative A agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GGTTAATCACCA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAggttaatcaccaAGATCGAGACCCGACGC chr22:23404216-Alternative-A;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative G agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag CTGGCGTTGCTA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAActggcgttgctaAGATCGAGACCCGACGC chr22:23404216-Alternative-G;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative G agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag ACGTTCTTCTGA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAacgttcttctgaAGATCGAGACCCGACGC chr22:23404216-Alternative-G;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Variant C agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GTTATTAGTGCG CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgttattagtgcgAGATCGAGACCCGACGC chr22:23404216-Variant-C;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative G agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GAGAGTTAAGTC CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgagagttaagtcAGATCGAGACCCGACGC chr22:23404216-Alternative-G;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative A agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag ATTCGAGTCGGC CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAattcgagtcggcAGATCGAGACCCGACGC chr22:23404216-Alternative-A;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative G agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GACGAACACGGT CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaGtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgacgaacacggtAGATCGAGACCCGACGC chr22:23404216-Alternative-G;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative A agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GAGGTGTTGCGA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgaggtgttgcgaAGATCGAGACCCGACGC chr22:23404216-Alternative-A;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Alternative A agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag ATAGCATAGACG CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaAtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAatagcatagacgAGATCGAGACCCGACGC chr22:23404216-Alternative-A;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Variant C agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GATTCGTGAACT CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgattcgtgaactAGATCGAGACCCGACGC chr22:23404216-Variant-C;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Variant C agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag AATCACGCAAGA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAaatcacgcaagaAGATCGAGACCCGACGC chr22:23404216-Variant-C;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Variant C agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GGTGTTGAGATA CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAggtgttgagataAGATCGAGACCCGACGC chr22:23404216-Variant-C;Patient-54 chr22:23404216-TC DeNovo Patient-54 intronic RSPH14 9.6e-05 9.9e-05 0.04 3.3 -0.95 GNAZ 8452 Variant C agaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccag GCAAGAGTTGAT CGACGCGGTCTCTCTCTagaagaggcgcaaggcccaggagtgccccagggagacacaaaagaaataaCtgtgtgggggctaccccaggtagtcccaggactggtccccatgatccagAGAGGGAGACGGACGTCTCAATAAgcaagagttgatAGATCGAGACCCGACGC chr22:23404216-Variant-C;Patient-54 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Variant A gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CACGTAGTATAC CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcacgtagtatacAGATCGAGACCCGACGC chr22:23604250-Variant-A;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Variant A gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CGACGCTCATGA CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcgacgctcatgaAGATCGAGACCCGACGC chr22:23604250-Variant-A;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Variant A gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat AGTCAGATCAAG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAagtcagatcaagAGATCGAGACCCGACGC chr22:23604250-Variant-A;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative T gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat ACAACTAGCCGG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAacaactagccggAGATCGAGACCCGACGC chr22:23604250-Alternative-T;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Reference G gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CGTGTAACTCGG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcgtgtaactcggAGATCGAGACCCGACGC chr22:23604250-Reference-G;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative C gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CGATACGCGACT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcgatacgcgactAGATCGAGACCCGACGC chr22:23604250-Alternative-C;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Variant A gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat AAGACCGACGAC CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAaagaccgacgacAGATCGAGACCCGACGC chr22:23604250-Variant-A;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative C gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat AGTTACGTTGAC CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAagttacgttgacAGATCGAGACCCGACGC chr22:23604250-Alternative-C;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative T gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat ACTATCCGTAAC CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAactatccgtaacAGATCGAGACCCGACGC chr22:23604250-Alternative-T;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Variant A gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CATCTACCATAC CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctAtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcatctaccatacAGATCGAGACCCGACGC chr22:23604250-Variant-A;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative C gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat AGCGTTGAGTAA CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAagcgttgagtaaAGATCGAGACCCGACGC chr22:23604250-Alternative-C;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Reference G gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CGTAACTATGAG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcgtaactatgagAGATCGAGACCCGACGC chr22:23604250-Reference-G;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative C gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CGAATACCAAGT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAcgaataccaagtAGATCGAGACCCGACGC chr22:23604250-Alternative-C;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative T gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat GGAGTCGGACTT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAggagtcggacttAGATCGAGACCCGACGC chr22:23604250-Alternative-T;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Reference G gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat ACCAACAGGCGT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAaccaacaggcgtAGATCGAGACCCGACGC chr22:23604250-Reference-G;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Reference G gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat AGAGTTGGTTCT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAagagttggttctAGATCGAGACCCGACGC chr22:23604250-Reference-G;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Reference G gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat ACAGATAGGTGT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctGtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAacagataggtgtAGATCGAGACCCGACGC chr22:23604250-Reference-G;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative C gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat GTGACGTGCAAG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctCtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAgtgacgtgcaagAGATCGAGACCCGACGC chr22:23604250-Alternative-C;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative T gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat GCGACTCGAACT CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAAgcgactcgaactAGATCGAGACCCGACGC chr22:23604250-Alternative-T;Patient-41 chr22:23604250-GA DeNovo Patient-41 intronic BCR NA 4.95e-05 0.13 4.72 0.25 BCR 81697 Alternative T gcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccat CTAACGCATGAG CGACGCGGTCTCTCTCTgcctcagccttccgcgtagctggggctataggtgcacgccaccacaccctTtgtgtggctgggactacaggtgcacgccatcacaccctgtgtgcgccatAGAGGGAGACGGACGTCTCAATAActaacgcatgagAGATCGAGACCCGACGC chr22:23604250-Alternative-T;Patient-41 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Variant G gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AACGGTGTGCAG CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaacggtgtgcagAGATCGAGACCCGACGC chr22:24152150-Variant-G;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative C gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat CTCGGATTCGGT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAActcggattcggtAGATCGAGACCCGACGC chr22:24152150-Alternative-C;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Variant G gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat ACTTCGCTTCTA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAacttcgcttctaAGATCGAGACCCGACGC chr22:24152150-Variant-G;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Variant G gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AATAACGGCGAA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaataacggcgaaAGATCGAGACCCGACGC chr22:24152150-Variant-G;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative T gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat GTTACGGAATGT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAgttacggaatgtAGATCGAGACCCGACGC chr22:24152150-Alternative-T;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Variant G gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AACGATCTTGGT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaacgatcttggtAGATCGAGACCCGACGC chr22:24152150-Variant-G;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Reference A gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat ACCTCGAATTGA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAacctcgaattgaAGATCGAGACCCGACGC chr22:24152150-Reference-A;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Variant G gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat GATCGCGGAACT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaGttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAgatcgcggaactAGATCGAGACCCGACGC chr22:24152150-Variant-G;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative T gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat GCATGTGACATC CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAgcatgtgacatcAGATCGAGACCCGACGC chr22:24152150-Alternative-T;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative T gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AGGCCATCCGAT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaggccatccgatAGATCGAGACCCGACGC chr22:24152150-Alternative-T;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Reference A gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AACGAGCCGCTA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaacgagccgctaAGATCGAGACCCGACGC chr22:24152150-Reference-A;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Reference A gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat GCCACTAGTAAC CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAgccactagtaacAGATCGAGACCCGACGC chr22:24152150-Reference-A;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Reference A gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AACACACGGTGG CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaacacacggtggAGATCGAGACCCGACGC chr22:24152150-Reference-A;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Reference A gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat CGCGTCTAAGCA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaAttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAcgcgtctaagcaAGATCGAGACCCGACGC chr22:24152150-Reference-A;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative C gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat CACATACTCTAC CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAcacatactctacAGATCGAGACCCGACGC chr22:24152150-Alternative-C;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative T gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat CACTAGCCGTAC CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAcactagccgtacAGATCGAGACCCGACGC chr22:24152150-Alternative-T;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative C gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat CGCACTCATCGA CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAcgcactcatcgaAGATCGAGACCCGACGC chr22:24152150-Alternative-C;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative C gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AAGATTAACGGC CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaagattaacggcAGATCGAGACCCGACGC chr22:24152150-Alternative-C;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative T gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat AATGCTTGGTCT CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaTttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAaatgcttggtctAGATCGAGACCCGACGC chr22:24152150-Alternative-T;Patient-39 chr22:24152150-AG DeNovo Patient-39 intronic SMARCB1 NA 0.000346432 0.15 5.1 0 SMARCB1 22999 Alternative C gtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaat GATAAGGCTAAG CGACGCGGTCTCTCTCTgtaatccctgcactttgggaggccgaggcgggcggatcacgaggtcaggaCttggaggccagcctgaccaacatggtgaaaccccatctctactaaaaatAGAGGGAGACGGACGTCTCAATAAgataaggctaagAGATCGAGACCCGACGC chr22:24152150-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Variant G caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CGGTAACTCTTA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAcggtaactcttaAGATCGAGACCCGACGC chr22:25738334-Variant-G;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Variant G caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GGAACGTTGACG CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAggaacgttgacgAGATCGAGACCCGACGC chr22:25738334-Variant-G;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Variant G caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CTTGCGACATAA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAActtgcgacataaAGATCGAGACCCGACGC chr22:25738334-Variant-G;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative T caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt AGCGGAACTTCG CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAagcggaacttcgAGATCGAGACCCGACGC chr22:25738334-Alternative-T;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative T caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt AGGAATGCGAAT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAaggaatgcgaatAGATCGAGACCCGACGC chr22:25738334-Alternative-T;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Variant G caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CGCTAGTCGCTT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAcgctagtcgcttAGATCGAGACCCGACGC chr22:25738334-Variant-G;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative T caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GTAGCTTGTTCT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAgtagcttgttctAGATCGAGACCCGACGC chr22:25738334-Alternative-T;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative T caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CGACGTTGTGGT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAcgacgttgtggtAGATCGAGACCCGACGC chr22:25738334-Alternative-T;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative T caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt AACTCAACGTCA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctTttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAaactcaacgtcaAGATCGAGACCCGACGC chr22:25738334-Alternative-T;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative C caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt AGAACGTGGCTT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAagaacgtggcttAGATCGAGACCCGACGC chr22:25738334-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative C caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GTGCGCAACAAC CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAgtgcgcaacaacAGATCGAGACCCGACGC chr22:25738334-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative C caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt ACAATACGCGGC CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAacaatacgcggcAGATCGAGACCCGACGC chr22:25738334-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Reference A caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt ACTATGGAGCAT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAactatggagcatAGATCGAGACCCGACGC chr22:25738334-Reference-A;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative C caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CGGTGCGTTGAT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAcggtgcgttgatAGATCGAGACCCGACGC chr22:25738334-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Reference A caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GCAACCGGTATA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAgcaaccggtataAGATCGAGACCCGACGC chr22:25738334-Reference-A;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Reference A caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GCGCTAGTCGAA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAgcgctagtcgaaAGATCGAGACCCGACGC chr22:25738334-Reference-A;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Reference A caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt GGTTCAGCACGT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAggttcagcacgtAGATCGAGACCCGACGC chr22:25738334-Reference-A;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Alternative C caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt CGAGCAGCATGA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctCttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAcgagcagcatgaAGATCGAGACCCGACGC chr22:25738334-Alternative-C;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Reference A caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt ACGAACGAACGT CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctAttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAacgaacgaacgtAGATCGAGACCCGACGC chr22:25738334-Reference-A;Patient-39 chr22:25738334-AG DeNovo Patient-39 intergenic 0.000128 0.000513 -0.13 1.16 0 LRP5L 39209 Variant G caaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgtt ACCTAATGTGCA CGACGCGGTCTCTCTCTcaaagaatgtatattctgttgatttggggtggagagttctgtagatgtctGttaggtccgcttggtgcagagctgagttcaattcctgcatatccttgttAGAGGGAGACGGACGTCTCAATAAacctaatgtgcaAGATCGAGACCCGACGC chr22:25738334-Variant-G;Patient-39 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative G gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GATCGAACGTAA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgatcgaacgtaaAGATCGAGACCCGACGC chr22:26812039-Alternative-G;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative G gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct CGCGGTGACATA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAcgcggtgacataAGATCGAGACCCGACGC chr22:26812039-Alternative-G;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Reference T gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct CGAGGCGACTAA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAcgaggcgactaaAGATCGAGACCCGACGC chr22:26812039-Reference-T;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative A gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct AGCTGACGTACA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAagctgacgtacaAGATCGAGACCCGACGC chr22:26812039-Alternative-A;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Reference T gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct CTCTAGGCGTGT CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAActctaggcgtgtAGATCGAGACCCGACGC chr22:26812039-Reference-T;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Variant C gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct CGTTCTGGCATC CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAcgttctggcatcAGATCGAGACCCGACGC chr22:26812039-Variant-C;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Variant C gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct ACTAACGGCATT CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAactaacggcattAGATCGAGACCCGACGC chr22:26812039-Variant-C;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative A gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GGAGGTTACAAT CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAggaggttacaatAGATCGAGACCCGACGC chr22:26812039-Alternative-A;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative G gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GATTAGTAGTGG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgattagtagtggAGATCGAGACCCGACGC chr22:26812039-Alternative-G;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative A gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct AGATCGCCTAAG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAagatcgcctaagAGATCGAGACCCGACGC chr22:26812039-Alternative-A;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative G gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct ACGAGCTCTGAC CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAacgagctctgacAGATCGAGACCCGACGC chr22:26812039-Alternative-G;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Variant C gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct AACTCTGGCATA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAaactctggcataAGATCGAGACCCGACGC chr22:26812039-Variant-C;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Reference T gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GGACGTCACGTT CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAggacgtcacgttAGATCGAGACCCGACGC chr22:26812039-Reference-T;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative G gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GATGTTCGGTCG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgGtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgatgttcggtcgAGATCGAGACCCGACGC chr22:26812039-Alternative-G;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative A gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GCAGTAAGTGCG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgcagtaagtgcgAGATCGAGACCCGACGC chr22:26812039-Alternative-A;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Alternative A gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GTGACTCTACGG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgAtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgtgactctacggAGATCGAGACCCGACGC chr22:26812039-Alternative-A;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Variant C gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GCACGGATTGAC CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgcacggattgacAGATCGAGACCCGACGC chr22:26812039-Variant-C;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Reference T gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GTCAATCCTCAA CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAgtcaatcctcaaAGATCGAGACCCGACGC chr22:26812039-Reference-T;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Variant C gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct GGAATAACGCCT CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgCtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAggaataacgcctAGATCGAGACCCGACGC chr22:26812039-Variant-C;Patient-15 chr22:26812039-TC DeNovo Patient-15 intergenic NA 3.92e-05 -0.57 0.05 -6.33 HPS4 67789 Reference T gtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatct ATACTAAGCGAG CGACGCGGTCTCTCTCTgtgtgctttggtggataaggaggctgaggacaggagaaaactaaaagttgTtgggtactcctaagtcagactgtgtgtaagtggtttgcttatattatctAGAGGGAGACGGACGTCTCAATAAatactaagcgagAGATCGAGACCCGACGC chr22:26812039-Reference-T;Patient-15 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative T cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CTAGTACACTGA CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAActagtacactgaAGATCGAGACCCGACGC chr22:29762720-Alternative-T;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Variant A cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CGCAATGGTCAA CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcgcaatggtcaaAGATCGAGACCCGACGC chr22:29762720-Variant-A;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative T cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac ACATCACCAACT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAacatcaccaactAGATCGAGACCCGACGC chr22:29762720-Alternative-T;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative C cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CGGTCGACTAAC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcggtcgactaacAGATCGAGACCCGACGC chr22:29762720-Alternative-C;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative C cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CTAGGCCAACCT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAActaggccaacctAGATCGAGACCCGACGC chr22:29762720-Alternative-C;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative T cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac GCGTACGCATTC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAgcgtacgcattcAGATCGAGACCCGACGC chr22:29762720-Alternative-T;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative C cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CGGTGATCCTAC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcggtgatcctacAGATCGAGACCCGACGC chr22:29762720-Alternative-C;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Variant A cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac ACGCGTAAGTTA CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAacgcgtaagttaAGATCGAGACCCGACGC chr22:29762720-Variant-A;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Variant A cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac GGTACCTCTAAC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAggtacctctaacAGATCGAGACCCGACGC chr22:29762720-Variant-A;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative T cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac ACATCGGCGATT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAacatcggcgattAGATCGAGACCCGACGC chr22:29762720-Alternative-T;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Variant A cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CGTACAATTACG CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcgtacaattacgAGATCGAGACCCGACGC chr22:29762720-Variant-A;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative C cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac GCATGCGACGAA CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAgcatgcgacgaaAGATCGAGACCCGACGC chr22:29762720-Alternative-C;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative T cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CGACGTGTGAAT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcTgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcgacgtgtgaatAGATCGAGACCCGACGC chr22:29762720-Alternative-T;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Reference G cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac AACTCACAACCA CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAaactcacaaccaAGATCGAGACCCGACGC chr22:29762720-Reference-G;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Reference G cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CAAGTTATGCAG CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcaagttatgcagAGATCGAGACCCGACGC chr22:29762720-Reference-G;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Reference G cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac AGCGGAAGACAT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAagcggaagacatAGATCGAGACCCGACGC chr22:29762720-Reference-G;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Variant A cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac CAGCAACAACCG CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcAgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAcagcaacaaccgAGATCGAGACCCGACGC chr22:29762720-Variant-A;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Reference G cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac GGCTCATAAGTT CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAggctcataagttAGATCGAGACCCGACGC chr22:29762720-Reference-G;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Reference G cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac ACGTGATTAACC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcGgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAacgtgattaaccAGATCGAGACCCGACGC chr22:29762720-Reference-G;Patient-89 chr22:29762720-GA Inherited Patient-89 intronic AP1B1 NA 4.95e-05 -0.39 0.2 -0.3 AP1B1 21851 Alternative C cccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgac AGGCCAACCAAC CGACGCGGTCTCTCTCTcccagcaattccggaggctgaggcaggagaataacttcaactcgagaggcCgaggttgcaatgagccaagatcgcaccactgcactccagcctgggtgacAGAGGGAGACGGACGTCTCAATAAaggccaaccaacAGATCGAGACCCGACGC chr22:29762720-Alternative-C;Patient-89 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative T acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GTCTATAACGCA CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAgtctataacgcaAGATCGAGACCCGACGC chr22:30654746-Alternative-T;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Reference A acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc CACTAGGCACCT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAcactaggcacctAGATCGAGACCCGACGC chr22:30654746-Reference-A;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Variant C acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc ACTTACGGTCAA CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAacttacggtcaaAGATCGAGACCCGACGC chr22:30654746-Variant-C;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Variant C acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GACGCACTTCCT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAgacgcacttcctAGATCGAGACCCGACGC chr22:30654746-Variant-C;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative T acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GGAGTAGTAACT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAggagtagtaactAGATCGAGACCCGACGC chr22:30654746-Alternative-T;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Variant C acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc CGGATATGTCGG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAcggatatgtcggAGATCGAGACCCGACGC chr22:30654746-Variant-C;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Reference A acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc CATCTTCGCGTC CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAcatcttcgcgtcAGATCGAGACCCGACGC chr22:30654746-Reference-A;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Variant C acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GTCGTGACAATT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAgtcgtgacaattAGATCGAGACCCGACGC chr22:30654746-Variant-C;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Reference A acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc CTAGTTCGTCGG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAActagttcgtcggAGATCGAGACCCGACGC chr22:30654746-Reference-A;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative T acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc ACCGCAGGTCTT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAaccgcaggtcttAGATCGAGACCCGACGC chr22:30654746-Alternative-T;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Variant C acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc AGACGTATGCCG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaCaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAagacgtatgccgAGATCGAGACCCGACGC chr22:30654746-Variant-C;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Reference A acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc CTCAACGGTATC CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAActcaacggtatcAGATCGAGACCCGACGC chr22:30654746-Reference-A;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Reference A acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc ACCTACGTTACG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaAaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAacctacgttacgAGATCGAGACCCGACGC chr22:30654746-Reference-A;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative T acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc AGCTGAACAGCT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAagctgaacagctAGATCGAGACCCGACGC chr22:30654746-Alternative-T;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative G acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc AACCGCACTGAG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAaaccgcactgagAGATCGAGACCCGACGC chr22:30654746-Alternative-G;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative G acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GGCTAGTACAAG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAggctagtacaagAGATCGAGACCCGACGC chr22:30654746-Alternative-G;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative T acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GGCCAAGCGTAT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaTaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAggccaagcgtatAGATCGAGACCCGACGC chr22:30654746-Alternative-T;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative G acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GCATATGCCGAC CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAgcatatgccgacAGATCGAGACCCGACGC chr22:30654746-Alternative-G;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative G acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GGTCACTATCGG CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAggtcactatcggAGATCGAGACCCGACGC chr22:30654746-Alternative-G;Patient-32 chr22:30654746-AC DeNovo Patient-32 intergenic NA 0.000513 0.19 5.66 1.91 OSM 8082 Alternative G acatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcacc GTCGAAGCTTAT CGACGCGGTCTCTCTCTacatgcagcattgactgagagtcccggaccgccgccctgaaaaacttaaaGaagaaaaagagaacccagcttcgagtagattcagcggctggactgcaccAGAGGGAGACGGACGTCTCAATAAgtcgaagcttatAGATCGAGACCCGACGC chr22:30654746-Alternative-G;Patient-32 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Reference G ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AATGCTTGGCGC CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAaatgcttggcgcAGATCGAGACCCGACGC chr22:31454303-Reference-G;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Reference G ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga GAGGTACGTATA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAgaggtacgtataAGATCGAGACCCGACGC chr22:31454303-Reference-G;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Reference G ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga ACGCCGTAGCTT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAacgccgtagcttAGATCGAGACCCGACGC chr22:31454303-Reference-G;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Reference G ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga CAACGAAGTTCT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAcaacgaagttctAGATCGAGACCCGACGC chr22:31454303-Reference-G;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Variant T ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AGGACCGAAGAA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAaggaccgaagaaAGATCGAGACCCGACGC chr22:31454303-Variant-T;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Variant T ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga CATCAAGAGTCT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAcatcaagagtctAGATCGAGACCCGACGC chr22:31454303-Variant-T;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Reference G ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AACGATCTGCCG CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagGactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAaacgatctgccgAGATCGAGACCCGACGC chr22:31454303-Reference-G;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Variant T ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga ATCGCTAATTGC CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAatcgctaattgcAGATCGAGACCCGACGC chr22:31454303-Variant-T;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Variant T ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga GTCTATATGCGA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAgtctatatgcgaAGATCGAGACCCGACGC chr22:31454303-Variant-T;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative A ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AGATTGGAATCG CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAagattggaatcgAGATCGAGACCCGACGC chr22:31454303-Alternative-A;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative C ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AAGTGAACGTGT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAaagtgaacgtgtAGATCGAGACCCGACGC chr22:31454303-Alternative-C;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative A ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga CACTAGATACCA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAcactagataccaAGATCGAGACCCGACGC chr22:31454303-Alternative-A;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Variant T ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga CGATCACGATGA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagTactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAcgatcacgatgaAGATCGAGACCCGACGC chr22:31454303-Variant-T;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative A ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga CGAAGGCCGATT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAcgaaggccgattAGATCGAGACCCGACGC chr22:31454303-Alternative-A;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative C ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga ATCACGTCGTGG CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAatcacgtcgtggAGATCGAGACCCGACGC chr22:31454303-Alternative-C;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative A ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga GGTCTTCTATCA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAggtcttctatcaAGATCGAGACCCGACGC chr22:31454303-Alternative-A;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative C ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga ACTTGGTCTTGT CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAacttggtcttgtAGATCGAGACCCGACGC chr22:31454303-Alternative-C;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative A ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga AACGCCGCTACA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagAactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAaacgccgctacaAGATCGAGACCCGACGC chr22:31454303-Alternative-A;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative C ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga ACGTGCAACTGA CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAacgtgcaactgaAGATCGAGACCCGACGC chr22:31454303-Alternative-C;Patient-61 chr22:31454303-GT Inherited Patient-61 intergenic NA 0.000513 0.61 10.33 -0.61 MORC2 90115 Alternative C ccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggaggga GTACGCATATAC CGACGCGGTCTCTCTCTccctgaatcccctacagggctgagaggagggctctggaaaccttgaaaagCactttgtagactctgagctgggcaccctcaaaggcttggttaggagggaAGAGGGAGACGGACGTCTCAATAAgtacgcatatacAGATCGAGACCCGACGC chr22:31454303-Alternative-C;Patient-61 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative C ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CAAGCGCGTAGT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAcaagcgcgtagtAGATCGAGACCCGACGC chr22:32060259-Alternative-C;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Variant A ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GTTGGCTCGAGT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgttggctcgagtAGATCGAGACCCGACGC chr22:32060259-Variant-A;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative C ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg ACAACTCTACAC CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAacaactctacacAGATCGAGACCCGACGC chr22:32060259-Alternative-C;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Reference G ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg ACTGTCGCGACT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAactgtcgcgactAGATCGAGACCCGACGC chr22:32060259-Reference-G;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Variant A ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GCGACTCTCGTT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgcgactctcgttAGATCGAGACCCGACGC chr22:32060259-Variant-A;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Reference G ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CTATGGCGGTGT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAActatggcggtgtAGATCGAGACCCGACGC chr22:32060259-Reference-G;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Reference G ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GTTAATATGCGG CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgttaatatgcggAGATCGAGACCCGACGC chr22:32060259-Reference-G;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative T ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GGTAGCGTACAG CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAggtagcgtacagAGATCGAGACCCGACGC chr22:32060259-Alternative-T;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Variant A ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GACCAAGCAGCA CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgaccaagcagcaAGATCGAGACCCGACGC chr22:32060259-Variant-A;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative T ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CTTGAGGACATT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAActtgaggacattAGATCGAGACCCGACGC chr22:32060259-Alternative-T;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Reference G ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CAGCATGGTGAT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAcagcatggtgatAGATCGAGACCCGACGC chr22:32060259-Reference-G;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Reference G ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GCCGAAGAGAGT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacGagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgccgaagagagtAGATCGAGACCCGACGC chr22:32060259-Reference-G;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Variant A ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CATTATGGAGCT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAcattatggagctAGATCGAGACCCGACGC chr22:32060259-Variant-A;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative T ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg GCGGCGTTGTAA CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAgcggcgttgtaaAGATCGAGACCCGACGC chr22:32060259-Alternative-T;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative C ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg ATTGCGGATTGA CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAattgcggattgaAGATCGAGACCCGACGC chr22:32060259-Alternative-C;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative T ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg ATTGCGTCACCG CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAattgcgtcaccgAGATCGAGACCCGACGC chr22:32060259-Alternative-T;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative T ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CATAAGATGCCT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacTagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAcataagatgcctAGATCGAGACCCGACGC chr22:32060259-Alternative-T;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Variant A ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg AGCTGGAATTCT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacAagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAagctggaattctAGATCGAGACCCGACGC chr22:32060259-Variant-A;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative C ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg CGAGTCGAATAT CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAcgagtcgaatatAGATCGAGACCCGACGC chr22:32060259-Alternative-C;Patient-60 chr22:32060259-GA Inherited Patient-60 intergenic 6.4e-05 0.000513 NA NA NA PISD 33448 Alternative C ggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatg AGCAGTTCCGAC CGACGCGGTCTCTCTCTggcatagtggcgcctgcctgtaatcccagctactccagaggctgaggtacCagaattgcttgaacccgggagggggaggttgcagtgagctgagataatgAGAGGGAGACGGACGTCTCAATAAagcagttccgacAGATCGAGACCCGACGC chr22:32060259-Alternative-C;Patient-60 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Variant C acacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact GACTGGTAAGAA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAgactggtaagaaAGATCGAGACCCGACGC chr22:32423503-Variant-C;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Variant C acacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AATCTCGCTATC CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAaatctcgctatcAGATCGAGACCCGACGC chr22:32423503-Variant-C;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Variant C acacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact CGTACTGAAGTT CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAcgtactgaagttAGATCGAGACCCGACGC chr22:32423503-Variant-C;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Variant C acacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact ATTCGCTGTAAC CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAattcgctgtaacAGATCGAGACCCGACGC chr22:32423503-Variant-C;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Variant C acacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact CATTAGGCGGCA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtCgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAcattaggcggcaAGATCGAGACCCGACGC chr22:32423503-Variant-C;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative A acacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact ATCATCAACGCT CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAatcatcaacgctAGATCGAGACCCGACGC chr22:32423503-Alternative-A;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative A acacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AGTACCAACCGG CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAagtaccaaccggAGATCGAGACCCGACGC chr22:32423503-Alternative-A;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative A acacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact CGAAGATCCGGT CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAcgaagatccggtAGATCGAGACCCGACGC chr22:32423503-Alternative-A;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative A acacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact GCCGAACGACTA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAgccgaacgactaAGATCGAGACCCGACGC chr22:32423503-Alternative-A;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative A acacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AATCGGCGGCAA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtAgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAaatcggcggcaaAGATCGAGACCCGACGC chr22:32423503-Alternative-A;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Reference T acacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AGGTACTGACGG CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAaggtactgacggAGATCGAGACCCGACGC chr22:32423503-Reference-T;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Reference T acacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact ATTCCGACCGTC CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAattccgaccgtcAGATCGAGACCCGACGC chr22:32423503-Reference-T;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Reference T acacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact GTATAGCGACCA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAgtatagcgaccaAGATCGAGACCCGACGC chr22:32423503-Reference-T;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative G acacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact CGAAGCAACATA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAcgaagcaacataAGATCGAGACCCGACGC chr22:32423503-Alternative-G;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative G acacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact GTACGGCAACGA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAgtacggcaacgaAGATCGAGACCCGACGC chr22:32423503-Alternative-G;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative G acacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact CATCGGACAGCA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAcatcggacagcaAGATCGAGACCCGACGC chr22:32423503-Alternative-G;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Reference T acacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AGCGTTGCACCA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAagcgttgcaccaAGATCGAGACCCGACGC chr22:32423503-Reference-T;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative G acacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AACTCAAGCCAA CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAaactcaagccaaAGATCGAGACCCGACGC chr22:32423503-Alternative-G;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Reference T acacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact ACTCGGTCCGTT CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtTgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAactcggtccgttAGATCGAGACCCGACGC chr22:32423503-Reference-T;Patient-30 chr22:32423503-TC Inherited Patient-30 intergenic 0.000162 0.000513 NA NA NA YWHAH 83023 Alternative G acacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccact AAGGTTACCGCG CGACGCGGTCTCTCTCTacacaaaaagacaattttttttttttttttgagatggaatctcactctgtGgccaggctggagtgcagtggcaaggtcttggctcactgcaacctccactAGAGGGAGACGGACGTCTCAATAAaaggttaccgcgAGATCGAGACCCGACGC chr22:32423503-Alternative-G;Patient-30 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Variant C atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaacccta GGTGTTAATAGG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAggtgttaataggAGATCGAGACCCGACGC chr22:33143497-Variant-C;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative G atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaacccta CTCGGATAATGT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAActcggataatgtAGATCGAGACCCGACGC chr22:33143497-Alternative-G;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Variant C atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaacccta GGTAGCCACGTT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAggtagccacgttAGATCGAGACCCGACGC chr22:33143497-Variant-C;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative G atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaacccta ACGTCCTTACAC CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAacgtccttacacAGATCGAGACCCGACGC chr22:33143497-Alternative-G;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative G atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaacccta GGATACTCACCG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAggatactcaccgAGATCGAGACCCGACGC chr22:33143497-Alternative-G;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Variant C atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaacccta GATAGGTACGCG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAgataggtacgcgAGATCGAGACCCGACGC chr22:33143497-Variant-C;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative G atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaacccta CTTAGACGACAG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAActtagacgacagAGATCGAGACCCGACGC chr22:33143497-Alternative-G;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative G atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaacccta GCGATTAGGTGG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaGatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAgcgattaggtggAGATCGAGACCCGACGC chr22:33143497-Alternative-G;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Reference T atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaacccta CGAACGAACATA CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAcgaacgaacataAGATCGAGACCCGACGC chr22:33143497-Reference-T;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Reference T atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaacccta AAGGCCGTGAAT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAaaggccgtgaatAGATCGAGACCCGACGC chr22:33143497-Reference-T;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Reference T atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaacccta AGACTGCGTATA CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAagactgcgtataAGATCGAGACCCGACGC chr22:33143497-Reference-T;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative A atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaacccta ATCAACACAGCG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAatcaacacagcgAGATCGAGACCCGACGC chr22:33143497-Alternative-A;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Variant C atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaacccta AGGAGATCGGTT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAaggagatcggttAGATCGAGACCCGACGC chr22:33143497-Variant-C;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Reference T atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaacccta CGTGTTGGCAGT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAcgtgttggcagtAGATCGAGACCCGACGC chr22:33143497-Reference-T;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative A atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaacccta CACGAAGGAACG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAcacgaaggaacgAGATCGAGACCCGACGC chr22:33143497-Alternative-A;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Reference T atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaacccta GTGAATGGTAGG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaTatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAgtgaatggtaggAGATCGAGACCCGACGC chr22:33143497-Reference-T;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative A atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaacccta GGCTTCTGAACG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAggcttctgaacgAGATCGAGACCCGACGC chr22:33143497-Alternative-A;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative A atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaacccta AGCGCAAGATGG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAagcgcaagatggAGATCGAGACCCGACGC chr22:33143497-Alternative-A;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Alternative A atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaacccta GTTAGGTGCGAG CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaAatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAgttaggtgcgagAGATCGAGACCCGACGC chr22:33143497-Alternative-A;Patient-55 chr22:33143497-TC Inherited Patient-55 intronic SYN3 NA 4.95e-05 -0.03 2.25 -1 TIMP3 53304 Variant C atgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaacccta CGTAGTCGAATT CGACGCGGTCTCTCTCTatgggacaccggtaaagtgctttgttgtaagtcctttatcaacattattaCatttaatctgatcgatgaccctataagacaagttctattactaaccctaAGAGGGAGACGGACGTCTCAATAAcgtagtcgaattAGATCGAGACCCGACGC chr22:33143497-Variant-C;Patient-55 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative T aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ACCTGATTACGA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAacctgattacgaAGATCGAGACCCGACGC chr22:33179915-Alternative-T;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative T aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GTTGTTGGTAGT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAgttgttggtagtAGATCGAGACCCGACGC chr22:33179915-Alternative-T;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative G aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ACTATAAGCGTC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAactataagcgtcAGATCGAGACCCGACGC chr22:33179915-Alternative-G;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative T aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa CACTGTCTAAGA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAcactgtctaagaAGATCGAGACCCGACGC chr22:33179915-Alternative-T;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative T aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ACGACTGACGTC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAacgactgacgtcAGATCGAGACCCGACGC chr22:33179915-Alternative-T;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative G aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GGTCATACCGTC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAggtcataccgtcAGATCGAGACCCGACGC chr22:33179915-Alternative-G;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative G aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ACACGACTGTGC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAacacgactgtgcAGATCGAGACCCGACGC chr22:33179915-Alternative-G;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Variant A aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa AACGAGGACCGA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAaacgaggaccgaAGATCGAGACCCGACGC chr22:33179915-Variant-A;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative G aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GTTCTGTAACAG CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAgttctgtaacagAGATCGAGACCCGACGC chr22:33179915-Alternative-G;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative G aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa CGTTACCTGGAT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctGagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAcgttacctggatAGATCGAGACCCGACGC chr22:33179915-Alternative-G;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Alternative T aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ATAGACGTCGTT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctTagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAatagacgtcgttAGATCGAGACCCGACGC chr22:33179915-Alternative-T;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Variant A aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa CAGATCCTCGAA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAcagatcctcgaaAGATCGAGACCCGACGC chr22:33179915-Variant-A;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Reference C aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa CACAATTAGCGT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAcacaattagcgtAGATCGAGACCCGACGC chr22:33179915-Reference-C;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Reference C aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GGACTTCGGCTA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAggacttcggctaAGATCGAGACCCGACGC chr22:33179915-Reference-C;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Variant A aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa CTAGTTCTGGTT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAActagttctggttAGATCGAGACCCGACGC chr22:33179915-Variant-A;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Reference C aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa ATCCGAAGTAAC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAatccgaagtaacAGATCGAGACCCGACGC chr22:33179915-Reference-C;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Variant A aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa AGACCTTGAACC CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAagaccttgaaccAGATCGAGACCCGACGC chr22:33179915-Variant-A;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Variant A aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa AGCTGGTCTGGT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctAagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAagctggtctggtAGATCGAGACCCGACGC chr22:33179915-Variant-A;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Reference C aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GGAGATTCGCCT CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAggagattcgcctAGATCGAGACCCGACGC chr22:33179915-Reference-C;Patient-91 chr22:33179915-CA DeNovo Patient-91 intronic SYN3 NA 4.95e-05 0.12 4.54 -1.13 TIMP3 16886 Reference C aatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaa GGCGAGCGAATA CGACGCGGTCTCTCTCTaatactataactgtgtcgtggtaggcatgtgacttgaactatctgtgcctCagtttccttacctgtaaaaaggggatgataatggtatttaccttacaaaAGAGGGAGACGGACGTCTCAATAAggcgagcgaataAGATCGAGACCCGACGC chr22:33179915-Reference-C;Patient-91 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Reference C cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg AAGTAAGCCACT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAaagtaagccactAGATCGAGACCCGACGC chr22:35767852-Reference-C;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Reference C cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GTTGGATTAGTC CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAgttggattagtcAGATCGAGACCCGACGC chr22:35767852-Reference-C;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Reference C cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg AGTCAAGAGTAC CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAagtcaagagtacAGATCGAGACCCGACGC chr22:35767852-Reference-C;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Reference C cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg AGTATATACGCG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAagtatatacgcgAGATCGAGACCCGACGC chr22:35767852-Reference-C;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Reference C cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CAGATCTAATCG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtCcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAcagatctaatcgAGATCGAGACCCGACGC chr22:35767852-Reference-C;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative A cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CTTGCCGGATGT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAActtgccggatgtAGATCGAGACCCGACGC chr22:35767852-Alternative-A;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative G cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CTACGAACGGAG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAActacgaacggagAGATCGAGACCCGACGC chr22:35767852-Alternative-G;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative A cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GGCCAATAACGG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAggccaataacggAGATCGAGACCCGACGC chr22:35767852-Alternative-A;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative A cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CGTACTGAACCT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAcgtactgaacctAGATCGAGACCCGACGC chr22:35767852-Alternative-A;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Variant T cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CAGGCTATAGAA CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAcaggctatagaaAGATCGAGACCCGACGC chr22:35767852-Variant-T;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Variant T cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GTTCATAGGCCG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAgttcataggccgAGATCGAGACCCGACGC chr22:35767852-Variant-T;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative A cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GGATCAACGAGT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAggatcaacgagtAGATCGAGACCCGACGC chr22:35767852-Alternative-A;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Variant T cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg AGTACAGTAGGT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAagtacagtaggtAGATCGAGACCCGACGC chr22:35767852-Variant-T;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Variant T cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GCAACACCTAAG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAgcaacacctaagAGATCGAGACCCGACGC chr22:35767852-Variant-T;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Variant T cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg AACCGACAACAT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtTcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAaaccgacaacatAGATCGAGACCCGACGC chr22:35767852-Variant-T;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative G cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg ATCGTACCTGTT CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAatcgtacctgttAGATCGAGACCCGACGC chr22:35767852-Alternative-G;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative G cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CGTGAATGCCTA CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAcgtgaatgcctaAGATCGAGACCCGACGC chr22:35767852-Alternative-G;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative G cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg CAACAAGGACAG CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAcaacaaggacagAGATCGAGACCCGACGC chr22:35767852-Alternative-G;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative A cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GTACGCCACTAA CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtAcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAgtacgccactaaAGATCGAGACCCGACGC chr22:35767852-Alternative-A;Patient-15 chr22:35767852-CT DeNovo Patient-15 intergenic 3.5e-05 3.92e-05 0.1 4.34 -1.85 HMOX1 9207 Alternative G cttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccagg GGTAGCGAATAA CGACGCGGTCTCTCTCTcttagagagtcgaagaggcaggggccaggtcctaaagaaaggcacactgtGcccagagcctggggcgcgatgccacccgccccccccccccccgcccaggAGAGGGAGACGGACGTCTCAATAAggtagcgaataaAGATCGAGACCCGACGC chr22:35767852-Alternative-G;Patient-15 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Reference A tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac ATCAATAGCGCT CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAatcaatagcgctAGATCGAGACCCGACGC chr22:36057691-Reference-A;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative C tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CTGCGTGGTTCT CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAActgcgtggttctAGATCGAGACCCGACGC chr22:36057691-Alternative-C;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Reference A tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GATGCTACCATA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgatgctaccataAGATCGAGACCCGACGC chr22:36057691-Reference-A;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative C tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GTAGATCCTACG CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgtagatcctacgAGATCGAGACCCGACGC chr22:36057691-Alternative-C;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative C tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CTAATCGCGCAC CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAActaatcgcgcacAGATCGAGACCCGACGC chr22:36057691-Alternative-C;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Reference A tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac AGCTGATCACAT CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAagctgatcacatAGATCGAGACCCGACGC chr22:36057691-Reference-A;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Reference A tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac AGCAACCAGGCA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAagcaaccaggcaAGATCGAGACCCGACGC chr22:36057691-Reference-A;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative C tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CTCGTACGACGA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAActcgtacgacgaAGATCGAGACCCGACGC chr22:36057691-Alternative-C;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Reference A tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CTTGGTCTGTCG CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaAaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAActtggtctgtcgAGATCGAGACCCGACGC chr22:36057691-Reference-A;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative C tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CGCAGAGATACG CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaCaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAcgcagagatacgAGATCGAGACCCGACGC chr22:36057691-Alternative-C;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative G tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CGAGTATCTTCT CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAcgagtatcttctAGATCGAGACCCGACGC chr22:36057691-Alternative-G;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Variant T tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GGATCGGATGCA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAggatcggatgcaAGATCGAGACCCGACGC chr22:36057691-Variant-T;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Variant T tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GATAAGCCAATC CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgataagccaatcAGATCGAGACCCGACGC chr22:36057691-Variant-T;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative G tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GTGTCGATATAC CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgtgtcgatatacAGATCGAGACCCGACGC chr22:36057691-Alternative-G;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Variant T tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CGGCTCTAAGCA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAcggctctaagcaAGATCGAGACCCGACGC chr22:36057691-Variant-T;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Variant T tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac CGTCCGTCTGAA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAcgtccgtctgaaAGATCGAGACCCGACGC chr22:36057691-Variant-T;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative G tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac AGAATGTCGAAC CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAagaatgtcgaacAGATCGAGACCCGACGC chr22:36057691-Alternative-G;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative G tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GTAGTCACGATT CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgtagtcacgattAGATCGAGACCCGACGC chr22:36057691-Alternative-G;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Variant T tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac AGAGTACGTCAA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaTaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAagagtacgtcaaAGATCGAGACCCGACGC chr22:36057691-Variant-T;Patient-58 chr22:36057691-AT DeNovo Patient-58 3 prime UTR APOL6 NA 0.000319 0.16 5.29 0.05 APOL6 13266 Alternative G tgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtac GTAAGGTGATCA CGACGCGGTCTCTCTCTtgcagcacaatgggaaatatttgtgtatctaaacatatgtaaacagagaaGaaggaaagtaaaaatatggcataaaagataagaattggctctcctgtacAGAGGGAGACGGACGTCTCAATAAgtaaggtgatcaAGATCGAGACCCGACGC chr22:36057691-Alternative-G;Patient-58 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Variant C gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GATGAGAGCACA CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAgatgagagcacaAGATCGAGACCCGACGC chr22:36100849-Variant-C;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Variant C gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CGGCATGTCAAG CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAcggcatgtcaagAGATCGAGACCCGACGC chr22:36100849-Variant-C;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative A gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GTAGATCATCGT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAgtagatcatcgtAGATCGAGACCCGACGC chr22:36100849-Alternative-A;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative A gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GGTGCGTATGCT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAggtgcgtatgctAGATCGAGACCCGACGC chr22:36100849-Alternative-A;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative A gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc ATACGGTGTACT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAatacggtgtactAGATCGAGACCCGACGC chr22:36100849-Alternative-A;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Variant C gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc AGGTTCGTCGGT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAaggttcgtcggtAGATCGAGACCCGACGC chr22:36100849-Variant-C;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Variant C gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CGCTCTTAGTCG CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAcgctcttagtcgAGATCGAGACCCGACGC chr22:36100849-Variant-C;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative A gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CTGCATTATGCT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAActgcattatgctAGATCGAGACCCGACGC chr22:36100849-Alternative-A;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Variant C gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc AAGACGTTCAGA CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccCggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAaagacgttcagaAGATCGAGACCCGACGC chr22:36100849-Variant-C;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative A gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CTAATGACCGCA CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccAggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAActaatgaccgcaAGATCGAGACCCGACGC chr22:36100849-Alternative-A;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative G gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GGAATTCTTGCA CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAggaattcttgcaAGATCGAGACCCGACGC chr22:36100849-Alternative-G;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Reference T gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc AGCAATGGTTGT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAagcaatggttgtAGATCGAGACCCGACGC chr22:36100849-Reference-T;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative G gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CGACACATCGCT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAcgacacatcgctAGATCGAGACCCGACGC chr22:36100849-Alternative-G;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative G gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc AAGACGCGGTTC CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAaagacgcggttcAGATCGAGACCCGACGC chr22:36100849-Alternative-G;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Reference T gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc AGATATGGCTGT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAagatatggctgtAGATCGAGACCCGACGC chr22:36100849-Reference-T;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative G gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc ACACGCGCGTAA CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAacacgcgcgtaaAGATCGAGACCCGACGC chr22:36100849-Alternative-G;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Reference T gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GAGTAGCGGAGT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAgagtagcggagtAGATCGAGACCCGACGC chr22:36100849-Reference-T;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Reference T gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GCCGGCTAACTT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAgccggctaacttAGATCGAGACCCGACGC chr22:36100849-Reference-T;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Reference T gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc CATTAGCGTGAT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccTggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAcattagcgtgatAGATCGAGACCCGACGC chr22:36100849-Reference-T;Patient-22 chr22:36100849-TC DeNovo Patient-22 intergenic NA 0.000513 0.27 6.85 0.12 APOL6 56424 Alternative G gcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggcc GTGTAGCAAGAT CGACGCGGTCTCTCTCTgcttgagcccaggagtttgagatcagcctgggcagcatggcacaaaacccGggctctacaaaaaaatacaaaaattagctgagggtggtggcgcacggccAGAGGGAGACGGACGTCTCAATAAgtgtagcaagatAGATCGAGACCCGACGC chr22:36100849-Alternative-G;Patient-22 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative G ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca AGGTGGTCTGCT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAaggtggtctgctAGATCGAGACCCGACGC chr22:36615548-Alternative-G;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative G ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GATGTAACCACG CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgatgtaaccacgAGATCGAGACCCGACGC chr22:36615548-Alternative-G;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative G ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GACTACCGCGAT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgactaccgcgatAGATCGAGACCCGACGC chr22:36615548-Alternative-G;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative G ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CGTCCTAGCTGT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAcgtcctagctgtAGATCGAGACCCGACGC chr22:36615548-Alternative-G;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative G ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CTGCGAATGTGC CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaGcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAActgcgaatgtgcAGATCGAGACCCGACGC chr22:36615548-Alternative-G;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Reference A ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GTTAACGCTTCT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgttaacgcttctAGATCGAGACCCGACGC chr22:36615548-Reference-A;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Reference A ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca AACCACGGCGAA CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAaaccacggcgaaAGATCGAGACCCGACGC chr22:36615548-Reference-A;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Variant C ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CGCAGCTATACT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAcgcagctatactAGATCGAGACCCGACGC chr22:36615548-Variant-C;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Reference A ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CTGGTAGAGTAA CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAActggtagagtaaAGATCGAGACCCGACGC chr22:36615548-Reference-A;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative T ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GCGCATCGTACT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgcgcatcgtactAGATCGAGACCCGACGC chr22:36615548-Alternative-T;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Variant C ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CACGTTCAAGGT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAcacgttcaaggtAGATCGAGACCCGACGC chr22:36615548-Variant-C;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative T ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GGATATCGGTGG CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAggatatcggtggAGATCGAGACCCGACGC chr22:36615548-Alternative-T;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative T ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CTGCGAAGCTGT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAActgcgaagctgtAGATCGAGACCCGACGC chr22:36615548-Alternative-T;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative T ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca CAGCTTGTAAGA CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAcagcttgtaagaAGATCGAGACCCGACGC chr22:36615548-Alternative-T;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Alternative T ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GGCTTAACTAGT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaTcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAggcttaactagtAGATCGAGACCCGACGC chr22:36615548-Alternative-T;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Variant C ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca ACCGGCAAGCTA CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAaccggcaagctaAGATCGAGACCCGACGC chr22:36615548-Variant-C;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Variant C ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca ACAAGCATTGTC CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAacaagcattgtcAGATCGAGACCCGACGC chr22:36615548-Variant-C;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Reference A ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GCCGGAGTGAAT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgccggagtgaatAGATCGAGACCCGACGC chr22:36615548-Reference-A;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Variant C ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GCGATACGCAAT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaCcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgcgatacgcaatAGATCGAGACCCGACGC chr22:36615548-Variant-C;Patient-54 chr22:36615548-AC DeNovo Patient-54 intergenic 9.6e-05 0.00154 -0.1 1.42 0 APOL4 14668 Reference A ggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactcca GACCGTACGCAT CGACGCGGTCTCTCTCTggtgcctgtagtcccagctactcagagggtgaggcaggagaatggtgtgaAcccaggaggcggagcctgcagtgagccaagatggcaccactgcactccaAGAGGGAGACGGACGTCTCAATAAgaccgtacgcatAGATCGAGACCCGACGC chr22:36615548-Reference-A;Patient-54 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Reference G taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg AGAATCGTCTGT CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAagaatcgtctgtAGATCGAGACCCGACGC chr22:36698205-Reference-G;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Variant A taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GTGTTGTCGACG CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgtgttgtcgacgAGATCGAGACCCGACGC chr22:36698205-Variant-A;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative T taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GCGGACTTATGC CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgcggacttatgcAGATCGAGACCCGACGC chr22:36698205-Alternative-T;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative T taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GTTATGGCGCGA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgttatggcgcgaAGATCGAGACCCGACGC chr22:36698205-Alternative-T;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Variant A taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GTCATAACGCTA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgtcataacgctaAGATCGAGACCCGACGC chr22:36698205-Variant-A;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Variant A taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CGAATGGTGGAA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAcgaatggtggaaAGATCGAGACCCGACGC chr22:36698205-Variant-A;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative C taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GTTCCGCCTAGA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgttccgcctagaAGATCGAGACCCGACGC chr22:36698205-Alternative-C;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Variant A taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GCGTCAACAACG CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgcgtcaacaacgAGATCGAGACCCGACGC chr22:36698205-Variant-A;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative C taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GGTTACGTCTAA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAggttacgtctaaAGATCGAGACCCGACGC chr22:36698205-Alternative-C;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Variant A taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg GACCGTACGTTC CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctAttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAgaccgtacgttcAGATCGAGACCCGACGC chr22:36698205-Variant-A;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Reference G taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CTTAGCGACTAA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAActtagcgactaaAGATCGAGACCCGACGC chr22:36698205-Reference-G;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative T taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CTGCTTCATCGG CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAActgcttcatcggAGATCGAGACCCGACGC chr22:36698205-Alternative-T;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Reference G taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CACGGTTCCGAT CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAcacggttccgatAGATCGAGACCCGACGC chr22:36698205-Reference-G;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative T taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CGATATGTTCCA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAcgatatgttccaAGATCGAGACCCGACGC chr22:36698205-Alternative-T;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Reference G taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg CGGTCATTCATA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAcggtcattcataAGATCGAGACCCGACGC chr22:36698205-Reference-G;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative C taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg AATCGTACGCGC CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAaatcgtacgcgcAGATCGAGACCCGACGC chr22:36698205-Alternative-C;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative T taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg AGGTGCGGTTCA CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctTttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAaggtgcggttcaAGATCGAGACCCGACGC chr22:36698205-Alternative-T;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Reference G taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg AGGCTGACGAAT CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctGttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAaggctgacgaatAGATCGAGACCCGACGC chr22:36698205-Reference-G;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative C taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg ACCAACACCATT CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAaccaacaccattAGATCGAGACCCGACGC chr22:36698205-Alternative-C;Patient-61 chr22:36698205-GA Inherited Patient-61 intronic MYH9 0.000701 9.9e-05 0.04 3.23 -1.2 MYH9 85857 Alternative C taggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttagg ACCGTCGTAATT CGACGCGGTCTCTCTCTtaggcagtgagaaaaagagcgagaaattaaacactaaaatagctgctgctCttggtttaggctaagggtttatgtgtgaatttttatttaattctttaggAGAGGGAGACGGACGTCTCAATAAaccgtcgtaattAGATCGAGACCCGACGC chr22:36698205-Alternative-C;Patient-61 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative G gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CTAATAGCATGC CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAActaatagcatgcAGATCGAGACCCGACGC chr22:36794183-Alternative-G;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative G gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CAACATGAGAGT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcaacatgagagtAGATCGAGACCCGACGC chr22:36794183-Alternative-G;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative G gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat GTTCCGATGAGT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAgttccgatgagtAGATCGAGACCCGACGC chr22:36794183-Alternative-G;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative G gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat ATTGCGACGTGC CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAattgcgacgtgcAGATCGAGACCCGACGC chr22:36794183-Alternative-G;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative G gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CACAGCTATGAT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtGgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcacagctatgatAGATCGAGACCCGACGC chr22:36794183-Alternative-G;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Variant T gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat AGCGCGAACATT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAagcgcgaacattAGATCGAGACCCGACGC chr22:36794183-Variant-T;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Variant T gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CATGCGCTGCAT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcatgcgctgcatAGATCGAGACCCGACGC chr22:36794183-Variant-T;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Variant T gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat GGATGGTATCGG CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAggatggtatcggAGATCGAGACCCGACGC chr22:36794183-Variant-T;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Variant T gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat AACCACAGCGAG CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAaaccacagcgagAGATCGAGACCCGACGC chr22:36794183-Variant-T;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative A gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CTATCACTGTCA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAActatcactgtcaAGATCGAGACCCGACGC chr22:36794183-Alternative-A;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Reference C gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CGAATCGATAGA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcgaatcgatagaAGATCGAGACCCGACGC chr22:36794183-Reference-C;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Variant T gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat ACCTTGATCCGG CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtTgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAaccttgatccggAGATCGAGACCCGACGC chr22:36794183-Variant-T;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Reference C gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CGATGGCATTAA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcgatggcattaaAGATCGAGACCCGACGC chr22:36794183-Reference-C;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative A gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat GCATAAGCAACA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAgcataagcaacaAGATCGAGACCCGACGC chr22:36794183-Alternative-A;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative A gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat GCCGATTGCGAA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAgccgattgcgaaAGATCGAGACCCGACGC chr22:36794183-Alternative-A;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Reference C gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CAGATATGACGA CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcagatatgacgaAGATCGAGACCCGACGC chr22:36794183-Reference-C;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative A gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat ATTCGGTCGAAT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAattcggtcgaatAGATCGAGACCCGACGC chr22:36794183-Alternative-A;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Reference C gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CTTGCTAATGCT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAActtgctaatgctAGATCGAGACCCGACGC chr22:36794183-Reference-C;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Alternative A gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CGTATCAATCAG CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtAgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcgtatcaatcagAGATCGAGACCCGACGC chr22:36794183-Alternative-A;Patient-82 chr22:36794183-CT DeNovo Patient-82 intergenic 6.4e-05 0.000513 -0.21 0.65 -0.86 MYH9 10119 Reference C gcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcat CAGCTCTGTTAT CGACGCGGTCTCTCTCTgcttggattagagtcaaggccaccccacctggccttagggttgcttctgtCgtagcattctcatgctgtcagcttgcctacccctggacaaggaggtcatAGAGGGAGACGGACGTCTCAATAAcagctctgttatAGATCGAGACCCGACGC chr22:36794183-Reference-C;Patient-82 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative T tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CAGCTTGAGCTA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAcagcttgagctaAGATCGAGACCCGACGC chr22:36811751-Alternative-T;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative T tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat GTGCCGATGAGA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAgtgccgatgagaAGATCGAGACCCGACGC chr22:36811751-Alternative-T;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Reference G tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat GGCTTACGTAAT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAggcttacgtaatAGATCGAGACCCGACGC chr22:36811751-Reference-G;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative C tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AGTGCGCAACAC CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAagtgcgcaacacAGATCGAGACCCGACGC chr22:36811751-Alternative-C;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Reference G tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CTAATGTCGTTC CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAActaatgtcgttcAGATCGAGACCCGACGC chr22:36811751-Reference-G;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative C tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CTAATAGTCCGA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAActaatagtccgaAGATCGAGACCCGACGC chr22:36811751-Alternative-C;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative T tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat GCGATCTACGGT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAgcgatctacggtAGATCGAGACCCGACGC chr22:36811751-Alternative-T;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Reference G tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CACTTAAGACGG CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAcacttaagacggAGATCGAGACCCGACGC chr22:36811751-Reference-G;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative C tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CGAACACCATAT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAcgaacaccatatAGATCGAGACCCGACGC chr22:36811751-Alternative-C;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Variant A tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CGGTATCAGACG CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAcggtatcagacgAGATCGAGACCCGACGC chr22:36811751-Variant-A;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Reference G tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat ACAACGGTGTAC CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAacaacggtgtacAGATCGAGACCCGACGC chr22:36811751-Reference-G;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Reference G tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CTGGTTGTCGAG CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccGatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAActggttgtcgagAGATCGAGACCCGACGC chr22:36811751-Reference-G;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Variant A tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat GACCATCTCGCT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAgaccatctcgctAGATCGAGACCCGACGC chr22:36811751-Variant-A;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative T tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AAGTGAACGCTT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAaagtgaacgcttAGATCGAGACCCGACGC chr22:36811751-Alternative-T;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative C tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat GTACACCAACGA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAgtacaccaacgaAGATCGAGACCCGACGC chr22:36811751-Alternative-C;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative T tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AATCTGCATGGT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccTatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAaatctgcatggtAGATCGAGACCCGACGC chr22:36811751-Alternative-T;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Variant A tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AAGATACGGAGA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAaagatacggagaAGATCGAGACCCGACGC chr22:36811751-Variant-A;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Variant A tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AGCGTCCGACAT CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAagcgtccgacatAGATCGAGACCCGACGC chr22:36811751-Variant-A;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Variant A tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat AAGCGTTGCGAC CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccAatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAaagcgttgcgacAGATCGAGACCCGACGC chr22:36811751-Variant-A;Patient-88 chr22:36811751-GA DeNovo Patient-88 intergenic 0.00032 0.000512821 -0.27 0.46 -0.94 MYH9 27687 Alternative C tggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaat CACGTTACGGAA CGACGCGGTCTCTCTCTtggggagtcaccagcctcccatactcaactcccatgagtcaagctgggccCatcctttttctcaagtctggagtgggcacatgacttcggcctaaccaatAGAGGGAGACGGACGTCTCAATAAcacgttacggaaAGATCGAGACCCGACGC chr22:36811751-Alternative-C;Patient-88 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative G aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CTATCGATATCG CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAActatcgatatcgAGATCGAGACCCGACGC chr22:36942431-Alternative-G;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Variant T aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg ATATAGCCGGAT CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAatatagccggatAGATCGAGACCCGACGC chr22:36942431-Variant-T;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative G aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CGTCTAAGCGAC CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAcgtctaagcgacAGATCGAGACCCGACGC chr22:36942431-Alternative-G;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative A aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg ACTTGCTAAGGT CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAacttgctaaggtAGATCGAGACCCGACGC chr22:36942431-Alternative-A;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative A aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg AGTAACGTTCCA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAagtaacgttccaAGATCGAGACCCGACGC chr22:36942431-Alternative-A;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Variant T aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CGGCCTTAGAGT CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAcggccttagagtAGATCGAGACCCGACGC chr22:36942431-Variant-T;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Variant T aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg ACCGGACCGTAA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAaccggaccgtaaAGATCGAGACCCGACGC chr22:36942431-Variant-T;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Variant T aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg AGAACGCTGACC CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAagaacgctgaccAGATCGAGACCCGACGC chr22:36942431-Variant-T;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative G aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GAGTACCACAGG CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAgagtaccacaggAGATCGAGACCCGACGC chr22:36942431-Alternative-G;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Reference C aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GACGCTCGATAC CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAgacgctcgatacAGATCGAGACCCGACGC chr22:36942431-Reference-C;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative G aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg ACTTAGCGACCT CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAacttagcgacctAGATCGAGACCCGACGC chr22:36942431-Alternative-G;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative A aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CTATGCGTAAGA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAActatgcgtaagaAGATCGAGACCCGACGC chr22:36942431-Alternative-A;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Variant T aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CGACACCTAGCA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccTgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAcgacacctagcaAGATCGAGACCCGACGC chr22:36942431-Variant-T;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Reference C aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GCGAATCCGCAT CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAgcgaatccgcatAGATCGAGACCCGACGC chr22:36942431-Reference-C;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Reference C aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GGATCATGGATA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAggatcatggataAGATCGAGACCCGACGC chr22:36942431-Reference-C;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Reference C aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CAACGCATATAC CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAcaacgcatatacAGATCGAGACCCGACGC chr22:36942431-Reference-C;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative A aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg AGTGACTACGGC CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAagtgactacggcAGATCGAGACCCGACGC chr22:36942431-Alternative-A;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative G aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GACTGATCGGAG CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccGgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAgactgatcggagAGATCGAGACCCGACGC chr22:36942431-Alternative-G;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Alternative A aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg GGCTCACAACCA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccAgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAAggctcacaaccaAGATCGAGACCCGACGC chr22:36942431-Alternative-A;Patient-85 chr22:36942431-CT Inherited Patient-85 intergenic 0.000478 0.00205 -0.01 2.42 -1.42 EIF3D 17153 Reference C aacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtg CTCGCTGAATAA CGACGCGGTCTCTCTCTaacggacttttccttgtatttgtcctaaagggacctcagcagcccctcccCgttgggtccgtcaaagcactctgccagaaggtctgtgtgttcttcagtgAGAGGGAGACGGACGTCTCAATAActcgctgaataaAGATCGAGACCCGACGC chr22:36942431-Reference-C;Patient-85 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative C cagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctc ATCGATATAGCG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAatcgatatagcgAGATCGAGACCCGACGC chr22:37077117-Alternative-C;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative C cagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CAGACACAGCGA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcagacacagcgaAGATCGAGACCCGACGC chr22:37077117-Alternative-C;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative C cagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctc AACCGTATCAGG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAaaccgtatcaggAGATCGAGACCCGACGC chr22:37077117-Alternative-C;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative C cagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CTGGTTGGTCGA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAActggttggtcgaAGATCGAGACCCGACGC chr22:37077117-Alternative-C;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative C cagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CTCTCGTTCAGG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacCagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAActctcgttcaggAGATCGAGACCCGACGC chr22:37077117-Alternative-C;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative T cagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CGCTCCTATTAA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcgctcctattaaAGATCGAGACCCGACGC chr22:37077117-Alternative-T;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative T cagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctc AACTTCACTCGT CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAaacttcactcgtAGATCGAGACCCGACGC chr22:37077117-Alternative-T;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative T cagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctc GGTTGGAATATC CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAggttggaatatcAGATCGAGACCCGACGC chr22:37077117-Alternative-T;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Reference G cagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctc ATTATACCGGAG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAattataccggagAGATCGAGACCCGACGC chr22:37077117-Reference-G;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative T cagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CAGTCGCTATAA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcagtcgctataaAGATCGAGACCCGACGC chr22:37077117-Alternative-T;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Alternative T cagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctc AGATTAGGCTGA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacTagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAagattaggctgaAGATCGAGACCCGACGC chr22:37077117-Alternative-T;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Variant A cagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CTAACTCACAAG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAActaactcacaagAGATCGAGACCCGACGC chr22:37077117-Variant-A;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Variant A cagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctc GATGCGTGGCTA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAgatgcgtggctaAGATCGAGACCCGACGC chr22:37077117-Variant-A;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Variant A cagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctc GTCAAGTTGTGT CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAgtcaagttgtgtAGATCGAGACCCGACGC chr22:37077117-Variant-A;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Variant A cagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CAGTTGCTCTTA CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcagttgctcttaAGATCGAGACCCGACGC chr22:37077117-Variant-A;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Variant A cagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CGATATCAGGTT CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacAagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcgatatcaggttAGATCGAGACCCGACGC chr22:37077117-Variant-A;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Reference G cagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctc GATTACGCAGTT CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAgattacgcagttAGATCGAGACCCGACGC chr22:37077117-Reference-G;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Reference G cagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctc AACAGGTAAGCG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAaacaggtaagcgAGATCGAGACCCGACGC chr22:37077117-Reference-G;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Reference G cagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctc CAACTCATCTTC CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAcaactcatcttcAGATCGAGACCCGACGC chr22:37077117-Reference-G;Patient-66 chr22:37077117-GA DeNovo Patient-66 intronic CACNG2 0.000255 0.000148471 0.3 7.15 1.52 CACNG2 21572 Reference G cagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctc GGAGTATGTCGG CGACGCGGTCTCTCTCTcagaaaaattattctttttttattattctaagaatttgtatctttttcacGagtaagttagaagctaaagatctatctatcatctatctgttcatctctcAGAGGGAGACGGACGTCTCAATAAggagtatgtcggAGATCGAGACCCGACGC chr22:37077117-Reference-G;Patient-66 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Reference G taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga ACACAACACCTA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAacacaacacctaAGATCGAGACCCGACGC chr22:37429168-Reference-G;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative T taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CGGTAACACATA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcggtaacacataAGATCGAGACCCGACGC chr22:37429168-Alternative-T;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Reference G taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GGAGTCTATCGC CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAggagtctatcgcAGATCGAGACCCGACGC chr22:37429168-Reference-G;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative T taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CGGTATCCTTAT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcggtatccttatAGATCGAGACCCGACGC chr22:37429168-Alternative-T;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative T taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CGCTCTAGTGCA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcgctctagtgcaAGATCGAGACCCGACGC chr22:37429168-Alternative-T;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Reference G taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GGAGTAGGACGA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAggagtaggacgaAGATCGAGACCCGACGC chr22:37429168-Reference-G;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative T taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GCGCATGCTAAG CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAgcgcatgctaagAGATCGAGACCCGACGC chr22:37429168-Alternative-T;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Variant A taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CATCGTTACGAA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcatcgttacgaaAGATCGAGACCCGACGC chr22:37429168-Variant-A;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative T taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga AGGTATCGCGCT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaTatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAaggtatcgcgctAGATCGAGACCCGACGC chr22:37429168-Alternative-T;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Variant A taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GCGTTGACTACC CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAgcgttgactaccAGATCGAGACCCGACGC chr22:37429168-Variant-A;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Variant A taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CACAACATCACT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcacaacatcactAGATCGAGACCCGACGC chr22:37429168-Variant-A;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Variant A taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga AACCGTGACTTA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAaaccgtgacttaAGATCGAGACCCGACGC chr22:37429168-Variant-A;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Variant A taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CTAACATTGACG CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaAatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAActaacattgacgAGATCGAGACCCGACGC chr22:37429168-Variant-A;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative C taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GTAAGGATGACT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAgtaaggatgactAGATCGAGACCCGACGC chr22:37429168-Alternative-C;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative C taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga ATTCGCGAGACA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAattcgcgagacaAGATCGAGACCCGACGC chr22:37429168-Alternative-C;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative C taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CAGACGAGCAGT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAcagacgagcagtAGATCGAGACCCGACGC chr22:37429168-Alternative-C;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative C taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga CTAGTTCGCTTA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAActagttcgcttaAGATCGAGACCCGACGC chr22:37429168-Alternative-C;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Alternative C taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga ACTCAATCCGTT CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaCatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAactcaatccgttAGATCGAGACCCGACGC chr22:37429168-Alternative-C;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Reference G taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GACCGACTTAAG CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAgaccgacttaagAGATCGAGACCCGACGC chr22:37429168-Reference-G;Patient-81 chr22:37429168-GA DeNovo Patient-81 intergenic 0.000764 0.00205 0.06 3.56 0.18 TST 12943 Reference G taaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcga GATTCTAGCACA CGACGCGGTCTCTCTCTtaaccagctgccctggaatgttttccacttcctgggtcattgcctccagaGatcaaagcccccatccacacagtgggctgaatatggatccatgcagcgaAGAGGGAGACGGACGTCTCAATAAgattctagcacaAGATCGAGACCCGACGC chr22:37429168-Reference-G;Patient-81 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Reference A caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca ATTACCGTAGTC CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAattaccgtagtcAGATCGAGACCCGACGC chr22:37574931-Reference-A;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Variant G caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca ATCTCCGAAGTT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAatctccgaagttAGATCGAGACCCGACGC chr22:37574931-Variant-G;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Reference A caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CACAGAGCGATT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAcacagagcgattAGATCGAGACCCGACGC chr22:37574931-Reference-A;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Variant G caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CTCTCACGGTCT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAActctcacggtctAGATCGAGACCCGACGC chr22:37574931-Variant-G;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Variant G caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AACGAATCGCGC CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAaacgaatcgcgcAGATCGAGACCCGACGC chr22:37574931-Variant-G;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative T caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AGTTATCGTGCA CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAagttatcgtgcaAGATCGAGACCCGACGC chr22:37574931-Alternative-T;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative C caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca GTCCGTGGTTCT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAgtccgtggttctAGATCGAGACCCGACGC chr22:37574931-Alternative-C;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Reference A caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca GTCGCTTCTGGT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAgtcgcttctggtAGATCGAGACCCGACGC chr22:37574931-Reference-A;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative T caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CTAGAGGAGTAT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAActagaggagtatAGATCGAGACCCGACGC chr22:37574931-Alternative-T;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative T caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CGTCGACTACGA CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAcgtcgactacgaAGATCGAGACCCGACGC chr22:37574931-Alternative-T;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Variant G caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AGGTAGTCGTGG CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAaggtagtcgtggAGATCGAGACCCGACGC chr22:37574931-Variant-G;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative T caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CACGTTGTGACG CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAcacgttgtgacgAGATCGAGACCCGACGC chr22:37574931-Alternative-T;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Reference A caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca ACTATTGTGCGA CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAactattgtgcgaAGATCGAGACCCGACGC chr22:37574931-Reference-A;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Reference A caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AGCATAGGCGGT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaAtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAagcataggcggtAGATCGAGACCCGACGC chr22:37574931-Reference-A;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative T caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca ACTCTTCGACTA CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaTtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAactcttcgactaAGATCGAGACCCGACGC chr22:37574931-Alternative-T;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Variant G caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AGTGAGCTTGGT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaGtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAagtgagcttggtAGATCGAGACCCGACGC chr22:37574931-Variant-G;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative C caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca ACGCTCGACAAC CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAacgctcgacaacAGATCGAGACCCGACGC chr22:37574931-Alternative-C;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative C caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca GACGTTGGCAAG CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAgacgttggcaagAGATCGAGACCCGACGC chr22:37574931-Alternative-C;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative C caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca CACTGAACCGTT CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAcactgaaccgttAGATCGAGACCCGACGC chr22:37574931-Alternative-C;Patient-22 chr22:37574931-AG Inherited Patient-22 intergenic NA 0.000513 0.33 7.61 2.84 IL2RB 28968 Alternative C caggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactca AGTCGTGTCACG CGACGCGGTCTCTCTCTcaggcacttggcaagaagtttcaaagctttgctgcctcagcgatcagcaaCtggctcatccttgtgctgtacacgacaaaaggctcctggctggcactcaAGAGGGAGACGGACGTCTCAATAAagtcgtgtcacgAGATCGAGACCCGACGC chr22:37574931-Alternative-C;Patient-22 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Reference G aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg CTGAATAACGGT CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAActgaataacggtAGATCGAGACCCGACGC chr22:37593484-Reference-G;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Reference G aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GCGTATTCAATC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgcgtattcaatcAGATCGAGACCCGACGC chr22:37593484-Reference-G;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Reference G aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GACGGCATCGTT CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgacggcatcgttAGATCGAGACCCGACGC chr22:37593484-Reference-G;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative A aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg ACGCATCGTACC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAacgcatcgtaccAGATCGAGACCCGACGC chr22:37593484-Alternative-A;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative A aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GATGTGATCGAG CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgatgtgatcgagAGATCGAGACCCGACGC chr22:37593484-Alternative-A;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative A aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GTCAGAACGACC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgtcagaacgaccAGATCGAGACCCGACGC chr22:37593484-Alternative-A;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative A aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GGTCTTATTGTC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAggtcttattgtcAGATCGAGACCCGACGC chr22:37593484-Alternative-A;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Reference G aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg AGCGTTGTAAGA CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAagcgttgtaagaAGATCGAGACCCGACGC chr22:37593484-Reference-G;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Variant C aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GGTTGATCTTCT CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAggttgatcttctAGATCGAGACCCGACGC chr22:37593484-Variant-C;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Variant C aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg CGCCTTGTCCTA CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAcgccttgtcctaAGATCGAGACCCGACGC chr22:37593484-Variant-C;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative A aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg AGTTCCAAGAAG CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttAgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAagttccaagaagAGATCGAGACCCGACGC chr22:37593484-Alternative-A;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative T aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg AGATTCACCTTC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAagattcaccttcAGATCGAGACCCGACGC chr22:37593484-Alternative-T;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative T aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GCATGGTTCGAC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgcatggttcgacAGATCGAGACCCGACGC chr22:37593484-Alternative-T;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Variant C aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg AGCGTGAATAAC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAagcgtgaataacAGATCGAGACCCGACGC chr22:37593484-Variant-C;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Reference G aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg CAAGGACGTTCA CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttGgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAcaaggacgttcaAGATCGAGACCCGACGC chr22:37593484-Reference-G;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative T aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg CTCTAAGGACGC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAActctaaggacgcAGATCGAGACCCGACGC chr22:37593484-Alternative-T;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative T aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GACATAGCAACC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgacatagcaaccAGATCGAGACCCGACGC chr22:37593484-Alternative-T;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Alternative T aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg ATTCCGCGATGC CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttTgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAattccgcgatgcAGATCGAGACCCGACGC chr22:37593484-Alternative-T;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Variant C aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg GCGCACGTTGTT CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAgcgcacgttgttAGATCGAGACCCGACGC chr22:37593484-Variant-C;Patient-75 chr22:37593484-GC DeNovo Patient-75 intergenic NA 0.000513 0.04 3.32 -0.53 SSTR3 14931 Variant C aacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactg CAGCAAGCTACG CGACGCGGTCTCTCTCTaacctgaccttctgaggaaacagggatagagagaaccatcaatgggacttCgggagaaacaggctggggacacagcaatggttttgtcaagggccaactgAGAGGGAGACGGACGTCTCAATAAcagcaagctacgAGATCGAGACCCGACGC chr22:37593484-Variant-C;Patient-75 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative T aaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CTTACACGCTAA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAActtacacgctaaAGATCGAGACCCGACGC chr22:37865246-Alternative-T;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative T aaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg AAGTCGGCCATC CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAaagtcggccatcAGATCGAGACCCGACGC chr22:37865246-Alternative-T;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Reference A aaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg ATTCCACTCGCA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAattccactcgcaAGATCGAGACCCGACGC chr22:37865246-Reference-A;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Variant G aaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg ACTGGTAGATGA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAactggtagatgaAGATCGAGACCCGACGC chr22:37865246-Variant-G;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Variant G aaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg GAATCGCAACGG CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAgaatcgcaacggAGATCGAGACCCGACGC chr22:37865246-Variant-G;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Variant G aaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg AATCGTCGATGA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAaatcgtcgatgaAGATCGAGACCCGACGC chr22:37865246-Variant-G;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Variant G aaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CTGTCGGCAGAT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAActgtcggcagatAGATCGAGACCCGACGC chr22:37865246-Variant-G;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative T aaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CGGATTAATCGT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAcggattaatcgtAGATCGAGACCCGACGC chr22:37865246-Alternative-T;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative C aaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CGCGATGTCTGT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAcgcgatgtctgtAGATCGAGACCCGACGC chr22:37865246-Alternative-C;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative T aaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CTTGGAAGGAGT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAActtggaaggagtAGATCGAGACCCGACGC chr22:37865246-Alternative-T;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Reference A aaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg ACATGACTAACC CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAacatgactaaccAGATCGAGACCCGACGC chr22:37865246-Reference-A;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Variant G aaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CGGATAACGCGT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagGtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAcggataacgcgtAGATCGAGACCCGACGC chr22:37865246-Variant-G;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Reference A aaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg CGTATCTCTTGA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAcgtatctcttgaAGATCGAGACCCGACGC chr22:37865246-Reference-A;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Reference A aaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg AGCTTGCGGCAT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAagcttgcggcatAGATCGAGACCCGACGC chr22:37865246-Reference-A;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative T aaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg AAGTGTATCCGC CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagTtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAaagtgtatccgcAGATCGAGACCCGACGC chr22:37865246-Alternative-T;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative C aaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg ACGCCGCATAAT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAacgccgcataatAGATCGAGACCCGACGC chr22:37865246-Alternative-C;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Reference A aaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg GTAGTCCGGTCT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagAtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAgtagtccggtctAGATCGAGACCCGACGC chr22:37865246-Reference-A;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative C aaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg AGCTGATACCAC CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAagctgataccacAGATCGAGACCCGACGC chr22:37865246-Alternative-C;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative C aaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg ATACGGCTCCAT CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAatacggctccatAGATCGAGACCCGACGC chr22:37865246-Alternative-C;Patient-88 chr22:37865246-AG DeNovo Patient-88 3 prime UTR MFNG NA 0.00016 0.28 6.93 0.41 MFNG 17231 Alternative C aaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttg GTAACGGCCAGA CGACGCGGTCTCTCTCTaaggtggctgccccagatccagccatcacacccacatttatagcaggaagCtggggagtgggctgcaaaaccttccccagaaacatctctattggatttgAGAGGGAGACGGACGTCTCAATAAgtaacggccagaAGATCGAGACCCGACGC chr22:37865246-Alternative-C;Patient-88 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative C ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GGATCCATTAGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAggatccattagtAGATCGAGACCCGACGC chr22:37869004-Alternative-C;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative C ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttcca ATAGCAATCGTC CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAatagcaatcgtcAGATCGAGACCCGACGC chr22:37869004-Alternative-C;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative T ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttcca CGTCTATCTCTT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAcgtctatctcttAGATCGAGACCCGACGC chr22:37869004-Alternative-T;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative T ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttcca ATTACTGACGGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAattactgacggtAGATCGAGACCCGACGC chr22:37869004-Alternative-T;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Reference G ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AATAGGTTCCGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAaataggttccgtAGATCGAGACCCGACGC chr22:37869004-Reference-G;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Reference G ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AACAACAGACGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAaacaacagacgtAGATCGAGACCCGACGC chr22:37869004-Reference-G;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative C ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AGTAGAGGTGTT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAagtagaggtgttAGATCGAGACCCGACGC chr22:37869004-Alternative-C;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative C ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GGAAGTGTAGCG CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAggaagtgtagcgAGATCGAGACCCGACGC chr22:37869004-Alternative-C;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Reference G ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AAGTACCTAGCT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAaagtacctagctAGATCGAGACCCGACGC chr22:37869004-Reference-G;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Reference G ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AACACCTAAGGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAaacacctaaggtAGATCGAGACCCGACGC chr22:37869004-Reference-G;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative T ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AGATCGGTAGAA CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAagatcggtagaaAGATCGAGACCCGACGC chr22:37869004-Alternative-T;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Reference G ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttcca ATAGGACGACAG CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaGcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAataggacgacagAGATCGAGACCCGACGC chr22:37869004-Reference-G;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative C ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttcca CTGAATCCGGAA CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaCcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAActgaatccggaaAGATCGAGACCCGACGC chr22:37869004-Alternative-C;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative T ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GACGTCAGCTGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAgacgtcagctgtAGATCGAGACCCGACGC chr22:37869004-Alternative-T;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Variant A ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttcca CTTACTCACACT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAActtactcacactAGATCGAGACCCGACGC chr22:37869004-Variant-A;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Variant A ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GCCGGTTGCAAT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAgccggttgcaatAGATCGAGACCCGACGC chr22:37869004-Variant-A;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Variant A ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AGAACGCCAGTT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAagaacgccagttAGATCGAGACCCGACGC chr22:37869004-Variant-A;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Alternative T ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GTTCGCTCTATT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaTcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAgttcgctctattAGATCGAGACCCGACGC chr22:37869004-Alternative-T;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Variant A ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttcca GCCACGCGATAA CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAgccacgcgataaAGATCGAGACCCGACGC chr22:37869004-Variant-A;Patient-89 chr22:37869004-GA Inherited Patient-89 intronic MFNG 3.2e-05 4.95e-05 -0.15 0.98 -2.05 MFNG 13473 Variant A ccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttcca AGTCGTGCACGT CGACGCGGTCTCTCTCTccaccaggcagtgacgacatggatcatgatttcagctcagaggctgtagaAcacagtggttaaagactgtgggcatagggaccacccagctagggttccaAGAGGGAGACGGACGTCTCAATAAagtcgtgcacgtAGATCGAGACCCGACGC chr22:37869004-Variant-A;Patient-89 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative T gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc CTCTAGCCGTCT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAActctagccgtctAGATCGAGACCCGACGC chr22:37906155-Alternative-T;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Variant G gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AGGCGCGTACTT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAaggcgcgtacttAGATCGAGACCCGACGC chr22:37906155-Variant-G;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative T gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GGTTCGGATGCT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAggttcggatgctAGATCGAGACCCGACGC chr22:37906155-Alternative-T;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Variant G gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GCAGCACGTTGT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAgcagcacgttgtAGATCGAGACCCGACGC chr22:37906155-Variant-G;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative T gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc ACTCCGGAACCT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAactccggaacctAGATCGAGACCCGACGC chr22:37906155-Alternative-T;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Variant G gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc CGTTCACAAGAT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAcgttcacaagatAGATCGAGACCCGACGC chr22:37906155-Variant-G;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Variant G gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AAGGACGTATAC CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAaaggacgtatacAGATCGAGACCCGACGC chr22:37906155-Variant-G;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative T gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc ACTAGCGCACGA CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAactagcgcacgaAGATCGAGACCCGACGC chr22:37906155-Alternative-T;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Variant G gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AGTACAAGACGG CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccGgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAagtacaagacggAGATCGAGACCCGACGC chr22:37906155-Variant-G;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative T gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GGTGCGTGTTCA CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccTgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAggtgcgtgttcaAGATCGAGACCCGACGC chr22:37906155-Alternative-T;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Reference A gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AGTAGCGTACTA CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAagtagcgtactaAGATCGAGACCCGACGC chr22:37906155-Reference-A;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Reference A gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AAGACGACTCTT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAaagacgactcttAGATCGAGACCCGACGC chr22:37906155-Reference-A;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Reference A gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AGATGGCTGTGG CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAagatggctgtggAGATCGAGACCCGACGC chr22:37906155-Reference-A;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Reference A gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GTGTTAGCTGAT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAgtgttagctgatAGATCGAGACCCGACGC chr22:37906155-Reference-A;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative C gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc CGGACAACGGAT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAcggacaacggatAGATCGAGACCCGACGC chr22:37906155-Alternative-C;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Reference A gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc CATTCTAGCAAG CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccAgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAcattctagcaagAGATCGAGACCCGACGC chr22:37906155-Reference-A;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative C gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AAGGACACCATA CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAaaggacaccataAGATCGAGACCCGACGC chr22:37906155-Alternative-C;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative C gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc AAGGTACCTAGA CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAaaggtacctagaAGATCGAGACCCGACGC chr22:37906155-Alternative-C;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative C gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GTAGTGACGCAG CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAgtagtgacgcagAGATCGAGACCCGACGC chr22:37906155-Alternative-C;Patient-82 chr22:37906155-AG DeNovo Patient-82 intronic CARD10 6.8e-05 0.00544 -0.37 0.23 -2.83 CARD10 9054 Alternative C gctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagc GTTAGGCGCGAT CGACGCGGTCTCTCTCTgctgcaggccttcctgatcccccaccccgcagcctgtgcccacaagccccCgtacctgctgcaggccctcctgaccaccccccagcctgtgcccacaagcAGAGGGAGACGGACGTCTCAATAAgttaggcgcgatAGATCGAGACCCGACGC chr22:37906155-Alternative-C;Patient-82 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative C gattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ATACGAGTTCGT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAatacgagttcgtAGATCGAGACCCGACGC chr22:38411636-Alternative-C;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Reference A gattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CGTGTCTGACGA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAcgtgtctgacgaAGATCGAGACCCGACGC chr22:38411636-Reference-A;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative C gattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GGTTCACAGCGT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAggttcacagcgtAGATCGAGACCCGACGC chr22:38411636-Alternative-C;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Variant T gattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GCGGATGTCGAT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAgcggatgtcgatAGATCGAGACCCGACGC chr22:38411636-Variant-T;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Variant T gattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CTGCTCATAAGG CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAActgctcataaggAGATCGAGACCCGACGC chr22:38411636-Variant-T;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Variant T gattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ACAGGAGTTCAA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAacaggagttcaaAGATCGAGACCCGACGC chr22:38411636-Variant-T;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative C gattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CTTACTTGTCCT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAActtacttgtcctAGATCGAGACCCGACGC chr22:38411636-Alternative-C;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Reference A gattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg AGCGCTACGTCT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAagcgctacgtctAGATCGAGACCCGACGC chr22:38411636-Reference-A;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Reference A gattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ACTTGTCGTTCA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAacttgtcgttcaAGATCGAGACCCGACGC chr22:38411636-Reference-A;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Variant T gattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg AATGACCAACGA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAaatgaccaacgaAGATCGAGACCCGACGC chr22:38411636-Variant-T;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative G gattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GATAAGACTGGT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAgataagactggtAGATCGAGACCCGACGC chr22:38411636-Alternative-G;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Reference A gattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GATAAGCATGCA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAgataagcatgcaAGATCGAGACCCGACGC chr22:38411636-Reference-A;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Reference A gattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CACACTATTCGT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaAatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAcacactattcgtAGATCGAGACCCGACGC chr22:38411636-Reference-A;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative C gattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ACAACACGCTTA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAacaacacgcttaAGATCGAGACCCGACGC chr22:38411636-Alternative-C;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative G gattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CGACAACGCAAT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAcgacaacgcaatAGATCGAGACCCGACGC chr22:38411636-Alternative-G;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative C gattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GGACAGTCGGAT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaCatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAggacagtcggatAGATCGAGACCCGACGC chr22:38411636-Alternative-C;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Variant T gattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ATATGATCCGGT CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaTatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAatatgatccggtAGATCGAGACCCGACGC chr22:38411636-Variant-T;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative G gattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg GCATGCTAACGC CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAgcatgctaacgcAGATCGAGACCCGACGC chr22:38411636-Alternative-G;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative G gattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg ATAACGTCGTCA CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAAataacgtcgtcaAGATCGAGACCCGACGC chr22:38411636-Alternative-G;Patient-54 chr22:38411636-AT Inherited Patient-54 intergenic 6.4e-05 0.000513 0.48 9.19 1.5 SOX10 31096 Alternative G gattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctg CTAGTAGGTAGG CGACGCGGTCTCTCTCTgattcctggatttggagttaggagccctgggttggaatcccggctctgtaGatgcagctatgtgacctgagaggtgtcccagcctcagctgccccctctgAGAGGGAGACGGACGTCTCAATAActagtaggtaggAGATCGAGACCCGACGC chr22:38411636-Alternative-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative T ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CGACGTCAACTA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAcgacgtcaactaAGATCGAGACCCGACGC chr22:38422089-Alternative-T;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Reference G ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct AGGTTAACGAAC CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAaggttaacgaacAGATCGAGACCCGACGC chr22:38422089-Reference-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Variant A ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CAAGATGCTCGA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAcaagatgctcgaAGATCGAGACCCGACGC chr22:38422089-Variant-A;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative T ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GAATAACAACCG CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAgaataacaaccgAGATCGAGACCCGACGC chr22:38422089-Alternative-T;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Variant A ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CGGACAGATTCG CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAcggacagattcgAGATCGAGACCCGACGC chr22:38422089-Variant-A;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Reference G ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CTGTCTTGACAT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAActgtcttgacatAGATCGAGACCCGACGC chr22:38422089-Reference-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Reference G ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CTGTCAAGCCGT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAActgtcaagccgtAGATCGAGACCCGACGC chr22:38422089-Reference-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Variant A ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct ACTATTCGCGTT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAactattcgcgttAGATCGAGACCCGACGC chr22:38422089-Variant-A;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Reference G ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct ACCTTACCTGCA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAaccttacctgcaAGATCGAGACCCGACGC chr22:38422089-Reference-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Variant A ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GGTAAGGTTCAA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAggtaaggttcaaAGATCGAGACCCGACGC chr22:38422089-Variant-A;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative C ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct ACTCTCGTCTAA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAactctcgtctaaAGATCGAGACCCGACGC chr22:38422089-Alternative-C;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Reference G ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GGCGGTCATTAA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaGgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAggcggtcattaaAGATCGAGACCCGACGC chr22:38422089-Reference-G;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative C ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CACGAGCGTCAT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAcacgagcgtcatAGATCGAGACCCGACGC chr22:38422089-Alternative-C;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative C ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GGTCGGATAACG CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAggtcggataacgAGATCGAGACCCGACGC chr22:38422089-Alternative-C;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Variant A ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GTCGCATCAAGT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaAgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAgtcgcatcaagtAGATCGAGACCCGACGC chr22:38422089-Variant-A;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative C ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct CAAGCAACCTGA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAcaagcaacctgaAGATCGAGACCCGACGC chr22:38422089-Alternative-C;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative T ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GACGGACTATAA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAgacggactataaAGATCGAGACCCGACGC chr22:38422089-Alternative-T;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative C ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct GGTCGCGTATGT CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaCgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAggtcgcgtatgtAGATCGAGACCCGACGC chr22:38422089-Alternative-C;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative T ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct ACGATCTTACGA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAacgatcttacgaAGATCGAGACCCGACGC chr22:38422089-Alternative-T;Patient-54 chr22:38422089-GA Inherited Patient-54 intergenic 1.1e-05 0.000513 -0.3 0.37 1.04 PICK1 31172 Alternative T ctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggct ATAGGAGCGTAA CGACGCGGTCTCTCTCTctgaataagacggactctgctgcctgctcttcagagaaggttttggtggaTgactcccctcaggtgcccctgcctggatcccccactgccccagaaggctAGAGGGAGACGGACGTCTCAATAAataggagcgtaaAGATCGAGACCCGACGC chr22:38422089-Alternative-T;Patient-54 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative C ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg AGTACGCTGTGC CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAagtacgctgtgcAGATCGAGACCCGACGC chr22:38528332-Alternative-C;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative C ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GATGATGTGCTT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAgatgatgtgcttAGATCGAGACCCGACGC chr22:38528332-Alternative-C;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative C ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg CTTGCATCCGCT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAActtgcatccgctAGATCGAGACCCGACGC chr22:38528332-Alternative-C;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative C ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg CAGGCTCCTACA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAcaggctcctacaAGATCGAGACCCGACGC chr22:38528332-Alternative-C;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative C ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg AGATTGTTAGCG CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaCcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAagattgttagcgAGATCGAGACCCGACGC chr22:38528332-Alternative-C;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Variant A ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg CGTTGGATTCAT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAcgttggattcatAGATCGAGACCCGACGC chr22:38528332-Variant-A;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative T ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg ACCGAACGATCG CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAaccgaacgatcgAGATCGAGACCCGACGC chr22:38528332-Alternative-T;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative T ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg CGACTTAACAAC CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAcgacttaacaacAGATCGAGACCCGACGC chr22:38528332-Alternative-T;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Variant A ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg CGTCGCCTTAGT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAcgtcgccttagtAGATCGAGACCCGACGC chr22:38528332-Variant-A;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Variant A ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg AATCTGTGCACA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAaatctgtgcacaAGATCGAGACCCGACGC chr22:38528332-Variant-A;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Variant A ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg ATCCGATGGACG CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAatccgatggacgAGATCGAGACCCGACGC chr22:38528332-Variant-A;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Variant A ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg AGATAGGTTACG CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaAcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAagataggttacgAGATCGAGACCCGACGC chr22:38528332-Variant-A;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative T ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GTCGCATCGTCT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAgtcgcatcgtctAGATCGAGACCCGACGC chr22:38528332-Alternative-T;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Reference G ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GGTGAGTCGGAT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAggtgagtcggatAGATCGAGACCCGACGC chr22:38528332-Reference-G;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Reference G ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg AACTACACGAGA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAaactacacgagaAGATCGAGACCCGACGC chr22:38528332-Reference-G;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Reference G ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GCATAGAGGCGT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAgcatagaggcgtAGATCGAGACCCGACGC chr22:38528332-Reference-G;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Reference G ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg ATAGCACAAGGT CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAatagcacaaggtAGATCGAGACCCGACGC chr22:38528332-Reference-G;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Reference G ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GGTTACTGGTTA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaGcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAggttactggttaAGATCGAGACCCGACGC chr22:38528332-Reference-G;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative T ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg GACAACGAGACA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAgacaacgagacaAGATCGAGACCCGACGC chr22:38528332-Alternative-T;Patient-7 chr22:38528332-GA DeNovo Patient-7 intronic PLA2G6 NA 4.19e-05 0.28 6.89 2.44 PLA2G6 49503 Alternative T ccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcagg ATCAAGCTCTGA CGACGCGGTCTCTCTCTccacaggctgctgggctgcacactcaggctttgcctgccaggatcttacaTcctcccagggaagatgagagcaacacgcggaccagtgaagggaagcaggAGAGGGAGACGGACGTCTCAATAAatcaagctctgaAGATCGAGACCCGACGC chr22:38528332-Alternative-T;Patient-7 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Variant G cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa CTGAGGTGAATA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAActgaggtgaataAGATCGAGACCCGACGC chr22:38688652-Variant-G;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Variant G cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa AGCGTTAGCTAA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAagcgttagctaaAGATCGAGACCCGACGC chr22:38688652-Variant-G;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative C cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa ATCACGATGCAT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAatcacgatgcatAGATCGAGACCCGACGC chr22:38688652-Alternative-C;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Variant G cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GCACGATCATAT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAgcacgatcatatAGATCGAGACCCGACGC chr22:38688652-Variant-G;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Variant G cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa ACCTAGCAAGCG CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAacctagcaagcgAGATCGAGACCCGACGC chr22:38688652-Variant-G;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Variant G cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa ACGCTAATGGAA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagGttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAacgctaatggaaAGATCGAGACCCGACGC chr22:38688652-Variant-G;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative T cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GTACTAATTCGG CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAgtactaattcggAGATCGAGACCCGACGC chr22:38688652-Alternative-T;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative T cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa CGATGGCTCTGA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAcgatggctctgaAGATCGAGACCCGACGC chr22:38688652-Alternative-T;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative T cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa AGTCAAGATGGT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAagtcaagatggtAGATCGAGACCCGACGC chr22:38688652-Alternative-T;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative T cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa CGAAGAGTCACT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAcgaagagtcactAGATCGAGACCCGACGC chr22:38688652-Alternative-T;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Reference A cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GGTACATACTGA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAggtacatactgaAGATCGAGACCCGACGC chr22:38688652-Reference-A;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative C cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GATGCTAGTGAA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAgatgctagtgaaAGATCGAGACCCGACGC chr22:38688652-Alternative-C;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Reference A cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GACCTATGCGCT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAgacctatgcgctAGATCGAGACCCGACGC chr22:38688652-Reference-A;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Reference A cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa ACTGCTATCGAT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAactgctatcgatAGATCGAGACCCGACGC chr22:38688652-Reference-A;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative T cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa CGGTCTATCATA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagTttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAcggtctatcataAGATCGAGACCCGACGC chr22:38688652-Alternative-T;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative C cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa AATAGACGACCA CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAaatagacgaccaAGATCGAGACCCGACGC chr22:38688652-Alternative-C;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative C cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa GTCGAAGTGAAT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAgtcgaagtgaatAGATCGAGACCCGACGC chr22:38688652-Alternative-C;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Alternative C cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa AATGCACAGCAT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagCttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAaatgcacagcatAGATCGAGACCCGACGC chr22:38688652-Alternative-C;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Reference A cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa ACCGGTCATAGT CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAAaccggtcatagtAGATCGAGACCCGACGC chr22:38688652-Reference-A;Patient-9 chr22:38688652-AG DeNovo Patient-9 intronic CSNK1E NA 0.00016 0.06 3.55 -2.47 CSNK1E 25436 Reference A cgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaa CTGAGTGTAGCG CGACGCGGTCTCTCTCTcgtgtcggactactgcctacaaatggacacacgttccccagagagctcagAttataccctcgagaagcccaaagaacccctgccgcctccccttccccaaAGAGGGAGACGGACGTCTCAATAActgagtgtagcgAGATCGAGACCCGACGC chr22:38688652-Reference-A;Patient-9 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative C aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GCACCAACTTAT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcaccaacttatAGATCGAGACCCGACGC chr22:38911701-Alternative-C;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative C aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GCGCTATATAAG CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcgctatataagAGATCGAGACCCGACGC chr22:38911701-Alternative-C;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Reference G aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc ACTGCTCGGCTT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAactgctcggcttAGATCGAGACCCGACGC chr22:38911701-Reference-G;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Reference G aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc AGCGCTCGCATT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAagcgctcgcattAGATCGAGACCCGACGC chr22:38911701-Reference-G;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative T aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CTCTACAGGACG CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActctacaggacgAGATCGAGACCCGACGC chr22:38911701-Alternative-T;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative T aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GGTAGTAAGTGT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAggtagtaagtgtAGATCGAGACCCGACGC chr22:38911701-Alternative-T;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Reference G aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CGACTTAGACGC CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcgacttagacgcAGATCGAGACCCGACGC chr22:38911701-Reference-G;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative T aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GGTCACGCAACT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAggtcacgcaactAGATCGAGACCCGACGC chr22:38911701-Alternative-T;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative T aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CGTCGCCAATAA CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcgtcgccaataaAGATCGAGACCCGACGC chr22:38911701-Alternative-T;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative T aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CTCTTACCTGTT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaTgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActcttacctgttAGATCGAGACCCGACGC chr22:38911701-Alternative-T;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Variant A aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc AACAGCGTGTCG CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAaacagcgtgtcgAGATCGAGACCCGACGC chr22:38911701-Variant-A;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Variant A aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GCCAGGATCTGT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgccaggatctgtAGATCGAGACCCGACGC chr22:38911701-Variant-A;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Reference G aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc ATTCGATCCTAC CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAattcgatcctacAGATCGAGACCCGACGC chr22:38911701-Reference-G;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Variant A aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CGAAGTTGGCAT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcgaagttggcatAGATCGAGACCCGACGC chr22:38911701-Variant-A;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Variant A aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc AACGAAGTCGAC CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAaacgaagtcgacAGATCGAGACCCGACGC chr22:38911701-Variant-A;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative C aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc GCGCTACTATAA CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAgcgctactataaAGATCGAGACCCGACGC chr22:38911701-Alternative-C;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Variant A aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc ATAAGCGAACGC CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaAgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAataagcgaacgcAGATCGAGACCCGACGC chr22:38911701-Variant-A;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative C aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CTTGCGTGAATT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAActtgcgtgaattAGATCGAGACCCGACGC chr22:38911701-Alternative-C;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Reference G aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc CATTCAGTCGTT CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaGgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAcattcagtcgttAGATCGAGACCCGACGC chr22:38911701-Reference-G;Patient-54 chr22:38911701-GA Inherited Patient-54 intergenic 3.2e-05 0.000513 0.01 2.85 0.24 DDX17 9355 Alternative C aaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagc ACCAAGGACATA CGACGCGGTCTCTCTCTaaacttagccgggtgtagtggcgggcgcctgcaatctcagctacttgggaCgctgaggtaggagaatcgtttgaacctgggagtggaggttgcagtgagcAGAGGGAGACGGACGTCTCAATAAaccaaggacataAGATCGAGACCCGACGC chr22:38911701-Alternative-C;Patient-54 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative C tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CTCGCCTAAGAA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAActcgcctaagaaAGATCGAGACCCGACGC chr22:38946609-Alternative-C;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Variant A tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GGCGTGTCTTGA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAggcgtgtcttgaAGATCGAGACCCGACGC chr22:38946609-Variant-A;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Variant A tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GGATGTCGGAGT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAggatgtcggagtAGATCGAGACCCGACGC chr22:38946609-Variant-A;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative C tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GCGGTAGACAGT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAgcggtagacagtAGATCGAGACCCGACGC chr22:38946609-Alternative-C;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Variant A tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccg ACAGCAGTTCTA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAacagcagttctaAGATCGAGACCCGACGC chr22:38946609-Variant-A;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Variant A tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CATAGACTCGGC CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAcatagactcggcAGATCGAGACCCGACGC chr22:38946609-Variant-A;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Variant A tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CAATAAGCGTAC CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcAcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAcaataagcgtacAGATCGAGACCCGACGC chr22:38946609-Variant-A;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative C tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccg ATTCCGGCGGTT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAattccggcggttAGATCGAGACCCGACGC chr22:38946609-Alternative-C;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative C tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccg ACAGCTGAACGG CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAacagctgaacggAGATCGAGACCCGACGC chr22:38946609-Alternative-C;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative C tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccg AACTCACAACAC CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcCcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAaactcacaacacAGATCGAGACCCGACGC chr22:38946609-Alternative-C;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative T tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GTCGTGTGGTAC CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAgtcgtgtggtacAGATCGAGACCCGACGC chr22:38946609-Alternative-T;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative T tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GGTTGGATAGAA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAggttggatagaaAGATCGAGACCCGACGC chr22:38946609-Alternative-T;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative T tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CACGGTGATCAA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAcacggtgatcaaAGATCGAGACCCGACGC chr22:38946609-Alternative-T;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Reference G tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccg AGTCAAGCTCTA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAagtcaagctctaAGATCGAGACCCGACGC chr22:38946609-Reference-G;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative T tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GACGTACTACGT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAgacgtactacgtAGATCGAGACCCGACGC chr22:38946609-Alternative-T;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Reference G tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GCAGTCAGCTGT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAgcagtcagctgtAGATCGAGACCCGACGC chr22:38946609-Reference-G;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Alternative T tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CTTGAATGACGG CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcTcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAActtgaatgacggAGATCGAGACCCGACGC chr22:38946609-Alternative-T;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Reference G tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccg GCCGAATCGAAC CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAgccgaatcgaacAGATCGAGACCCGACGC chr22:38946609-Reference-G;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Reference G tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CAACGATCGGCA CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAcaacgatcggcaAGATCGAGACCCGACGC chr22:38946609-Reference-G;Patient-30 chr22:38946609-GA Inherited Patient-30 intronic DMC1 0.00028 4.95e-05 NA NA NA DMC1 19591 Reference G tgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccg CGCCAACCTAGT CGACGCGGTCTCTCTCTtgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccgcGcccaacctactaactttctttctacaagaaatagtcacaaatatggccgAGAGGGAGACGGACGTCTCAATAAcgccaacctagtAGATCGAGACCCGACGC chr22:38946609-Reference-G;Patient-30 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Reference G ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CAACGAAGACCA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcaacgaagaccaAGATCGAGACCCGACGC chr22:39081214-Reference-G;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Reference G ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CAGACGGAGCAA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcagacggagcaaAGATCGAGACCCGACGC chr22:39081214-Reference-G;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Reference G ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GGTTACAGGTCG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAggttacaggtcgAGATCGAGACCCGACGC chr22:39081214-Reference-G;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Reference G ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GTCAACGACCAC CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgtcaacgaccacAGATCGAGACCCGACGC chr22:39081214-Reference-G;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Reference G ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CAACACGCGCTT CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaGacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcaacacgcgcttAGATCGAGACCCGACGC chr22:39081214-Reference-G;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative T ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CTCGTTCAGATA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAActcgttcagataAGATCGAGACCCGACGC chr22:39081214-Alternative-T;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative C ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc ATTGAAGCGAAC CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAattgaagcgaacAGATCGAGACCCGACGC chr22:39081214-Alternative-C;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Variant A ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CGGCAAGTGTAC CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcggcaagtgtacAGATCGAGACCCGACGC chr22:39081214-Variant-A;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative T ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GCGACTTGAAGG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgcgacttgaaggAGATCGAGACCCGACGC chr22:39081214-Alternative-T;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative C ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GGTTATGCTTCT CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAggttatgcttctAGATCGAGACCCGACGC chr22:39081214-Alternative-C;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative C ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc AGGTTCAAGAGT CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAaggttcaagagtAGATCGAGACCCGACGC chr22:39081214-Alternative-C;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Variant A ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CGCTCAACGTTA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcgctcaacgttaAGATCGAGACCCGACGC chr22:39081214-Variant-A;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative C ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CGAGATGTAAGG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcgagatgtaaggAGATCGAGACCCGACGC chr22:39081214-Alternative-C;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative T ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc AGATGATAGTCG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAagatgatagtcgAGATCGAGACCCGACGC chr22:39081214-Alternative-T;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Variant A ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GCGTTGCTATAA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgcgttgctataaAGATCGAGACCCGACGC chr22:39081214-Variant-A;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Variant A ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GACGCTGCATGT CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgacgctgcatgtAGATCGAGACCCGACGC chr22:39081214-Variant-A;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative C ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GTATCACACCGG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaCacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgtatcacaccggAGATCGAGACCCGACGC chr22:39081214-Alternative-C;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Variant A ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CACGGTAGTACA CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaAacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcacggtagtacaAGATCGAGACCCGACGC chr22:39081214-Variant-A;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative T ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc GCGTCTTGTTCG CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAgcgtcttgttcgAGATCGAGACCCGACGC chr22:39081214-Alternative-T;Patient-32 chr22:39081214-GA DeNovo Patient-32 intergenic NA 0.000513 0.15 5.15 1.64 GTPBP1 20592 Alternative T ggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgc CAGCTCGTTCGT CGACGCGGTCTCTCTCTggaaacagccacagaaaggtaattgctcaaggctgcagagttaagtgctaTacctggattcaaatccaggcagtccagctacagaacactgctgctgtgcAGAGGGAGACGGACGTCTCAATAAcagctcgttcgtAGATCGAGACCCGACGC chr22:39081214-Alternative-T;Patient-32 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative A ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcagg CGAGATGAAGTT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAcgagatgaagttAGATCGAGACCCGACGC chr22:39562898-Alternative-A;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative A ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcagg GTCTACGACGAC CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgtctacgacgacAGATCGAGACCCGACGC chr22:39562898-Alternative-A;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative A ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcagg AAGACCATCGTT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAaagaccatcgttAGATCGAGACCCGACGC chr22:39562898-Alternative-A;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative C ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CGTAGGCTAGTC CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAcgtaggctagtcAGATCGAGACCCGACGC chr22:39562898-Alternative-C;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative A ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcagg GTGTTACCTATC CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgtgttacctatcAGATCGAGACCCGACGC chr22:39562898-Alternative-A;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative A ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcagg GATTCGTGTGAT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagActcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgattcgtgtgatAGATCGAGACCCGACGC chr22:39562898-Alternative-A;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Variant G ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcagg GGCTAACAGTTA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAggctaacagttaAGATCGAGACCCGACGC chr22:39562898-Variant-G;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Variant G ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CGGTCACGCTTA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAcggtcacgcttaAGATCGAGACCCGACGC chr22:39562898-Variant-G;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Variant G ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcagg AGCAGCACGCAA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAagcagcacgcaaAGATCGAGACCCGACGC chr22:39562898-Variant-G;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Variant G ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcagg AACGTACTCTGA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAaacgtactctgaAGATCGAGACCCGACGC chr22:39562898-Variant-G;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative C ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcagg GATGCTAATAGG CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgatgctaataggAGATCGAGACCCGACGC chr22:39562898-Alternative-C;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Variant G ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcagg GTCGGCTACCAT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagGctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgtcggctaccatAGATCGAGACCCGACGC chr22:39562898-Variant-G;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Reference T ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcagg GCGATTACACAC CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAgcgattacacacAGATCGAGACCCGACGC chr22:39562898-Reference-T;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Reference T ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcagg ATACAACGAGCA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAatacaacgagcaAGATCGAGACCCGACGC chr22:39562898-Reference-T;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Reference T ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CTTGACCTAACA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAActtgacctaacaAGATCGAGACCCGACGC chr22:39562898-Reference-T;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Reference T ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcagg AGCGTACTACTT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAagcgtactacttAGATCGAGACCCGACGC chr22:39562898-Reference-T;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative C ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CTCTTGAGTGAA CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAActcttgagtgaaAGATCGAGACCCGACGC chr22:39562898-Alternative-C;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Reference T ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CTTAGATAAGCG CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagTctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAActtagataagcgAGATCGAGACCCGACGC chr22:39562898-Reference-T;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative C ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcagg CACGTGGTGTAC CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAcacgtggtgtacAGATCGAGACCCGACGC chr22:39562898-Alternative-C;Patient-88 chr22:39562898-TG DeNovo Patient-88 intergenic NA 0.000513 -0.17 0.85 0 CBX7 14359 Alternative C ctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcagg AGCTCGCAATAT CGACGCGGTCTCTCTCTctaccaaagaagtatgaggagggacacaaaaacatttcagacacgcaaagCctcccaaattttattgcccatgcactctttctcaggaagatactgcaggAGAGGGAGACGGACGTCTCAATAAagctcgcaatatAGATCGAGACCCGACGC chr22:39562898-Alternative-C;Patient-88 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Reference G gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa GGTTGAGTGTAA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggttgagtgtaaAGATCGAGACCCGACGC chr22:39606873-Reference-G;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Reference G gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CGTGTGCTTCGT CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtgtgcttcgtAGATCGAGACCCGACGC chr22:39606873-Reference-G;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Reference G gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CGGAATTCCGTC CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggaattccgtcAGATCGAGACCCGACGC chr22:39606873-Reference-G;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Reference G gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa AGATTAGACGCG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagattagacgcgAGATCGAGACCCGACGC chr22:39606873-Reference-G;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Reference G gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa GGACGCCGATAA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggGccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggacgccgataaAGATCGAGACCCGACGC chr22:39606873-Reference-G;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Variant T gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CGGTGACGTAAC CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcggtgacgtaacAGATCGAGACCCGACGC chr22:39606873-Variant-T;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Variant T gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa AAGTCGGCACCT CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagtcggcacctAGATCGAGACCCGACGC chr22:39606873-Variant-T;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative A gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CTGTGTCGAACG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAActgtgtcgaacgAGATCGAGACCCGACGC chr22:39606873-Alternative-A;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative A gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa GTACGAATAGCA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtacgaatagcaAGATCGAGACCCGACGC chr22:39606873-Alternative-A;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Variant T gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa AAGATAGCAGTC CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagatagcagtcAGATCGAGACCCGACGC chr22:39606873-Variant-T;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Variant T gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa ATTGACAGCGCG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattgacagcgcgAGATCGAGACCCGACGC chr22:39606873-Variant-T;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative A gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa AGATCAACTTCG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagatcaacttcgAGATCGAGACCCGACGC chr22:39606873-Alternative-A;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Variant T gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa ATAGCTTCGGAT CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggTccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatagcttcggatAGATCGAGACCCGACGC chr22:39606873-Variant-T;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative C gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CGTATCATAACG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtatcataacgAGATCGAGACCCGACGC chr22:39606873-Alternative-C;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative A gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CTATGAAGCGAT CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAActatgaagcgatAGATCGAGACCCGACGC chr22:39606873-Alternative-A;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative C gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CACGTCGCTAGA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcacgtcgctagaAGATCGAGACCCGACGC chr22:39606873-Alternative-C;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative A gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa CATCCAACTAGA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggAccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcatccaactagaAGATCGAGACCCGACGC chr22:39606873-Alternative-A;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative C gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa ACACCGGTTGTC CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacaccggttgtcAGATCGAGACCCGACGC chr22:39606873-Alternative-C;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative C gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa GGTTGCTATGAA CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggttgctatgaaAGATCGAGACCCGACGC chr22:39606873-Alternative-C;Patient-62 chr22:39606873-GT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.23 0.59 0 PDGFB 34083 Alternative C gaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaa AGCGGATCTAGG CGACGCGGTCTCTCTCTgaaatattgcttgaacccgggagatggaggttacagtgagtcgagattggCccactgcactccagcctgggcgacagagggagactctgtctaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagcggatctaggAGATCGAGACCCGACGC chr22:39606873-Alternative-C;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Reference C taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CAGGTCGTTGAC CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAcaggtcgttgacAGATCGAGACCCGACGC chr22:39665676-Reference-C;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Variant T taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CTTGCTCGCGTT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAActtgctcgcgttAGATCGAGACCCGACGC chr22:39665676-Variant-T;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Variant T taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa GCGATTCCAACG CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAgcgattccaacgAGATCGAGACCCGACGC chr22:39665676-Variant-T;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative G taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CACGCGTAGCAA CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAcacgcgtagcaaAGATCGAGACCCGACGC chr22:39665676-Alternative-G;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Reference C taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa GGAGTTGCTCGT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAggagttgctcgtAGATCGAGACCCGACGC chr22:39665676-Reference-C;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative G taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa ACGAATTGAACC CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAacgaattgaaccAGATCGAGACCCGACGC chr22:39665676-Alternative-G;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Variant T taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa ACAAGGTTCAGA CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAacaaggttcagaAGATCGAGACCCGACGC chr22:39665676-Variant-T;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative G taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa GAATCGGATTCA CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAgaatcggattcaAGATCGAGACCCGACGC chr22:39665676-Alternative-G;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Variant T taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa AGGAGGACTTCG CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAaggaggacttcgAGATCGAGACCCGACGC chr22:39665676-Variant-T;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative A taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa ATCGACGTCGAT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAatcgacgtcgatAGATCGAGACCCGACGC chr22:39665676-Alternative-A;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative G taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CTAGACGACCGT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAActagacgaccgtAGATCGAGACCCGACGC chr22:39665676-Alternative-G;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Variant T taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa GGAACACAGACA CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaTgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAggaacacagacaAGATCGAGACCCGACGC chr22:39665676-Variant-T;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative A taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CTTGGTACGCAG CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAActtggtacgcagAGATCGAGACCCGACGC chr22:39665676-Alternative-A;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative G taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa ACCTGTAGAACG CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaGgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAacctgtagaacgAGATCGAGACCCGACGC chr22:39665676-Alternative-G;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative A taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa GTCCGTGGAACT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAgtccgtggaactAGATCGAGACCCGACGC chr22:39665676-Alternative-A;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Reference C taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa AGTAATCGGTGT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAagtaatcggtgtAGATCGAGACCCGACGC chr22:39665676-Reference-C;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative A taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa CTGTGTTGGATA CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAActgtgttggataAGATCGAGACCCGACGC chr22:39665676-Alternative-A;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Reference C taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa ACACGCCTACTT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAacacgcctacttAGATCGAGACCCGACGC chr22:39665676-Reference-C;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Alternative A taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa AACTAGGCTTCT CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaAgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAaactaggcttctAGATCGAGACCCGACGC chr22:39665676-Alternative-A;Patient-62 chr22:39665676-CT DeNovo Patient-62 intergenic 6.4e-05 0.000513 -0.28 0.43 -2.5 PDGFB 24718 Reference C taaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaa AGTTGGAGGTAC CGACGCGGTCTCTCTCTtaaaacagactgtagtggagttcctccctcccggtcactgtgagccttcaCgggaagagcccctggtggacaccccagtaagtggtcatcttattattaaAGAGGGAGACGGACGTCTCAATAAagttggaggtacAGATCGAGACCCGACGC chr22:39665676-Reference-C;Patient-62 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative C ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat AGCTCGGAACCT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAagctcggaacctAGATCGAGACCCGACGC chr22:39670992-Alternative-C;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Reference G ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GGTTAACGGTAA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAggttaacggtaaAGATCGAGACCCGACGC chr22:39670992-Reference-G;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative C ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CTTGATTGCGGC CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAActtgattgcggcAGATCGAGACCCGACGC chr22:39670992-Alternative-C;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative T ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CTAACATCAGGT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAActaacatcaggtAGATCGAGACCCGACGC chr22:39670992-Alternative-T;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Variant A ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CGTAACCACAAT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAcgtaaccacaatAGATCGAGACCCGACGC chr22:39670992-Variant-A;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative T ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GGCTCGTGTCTT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAggctcgtgtcttAGATCGAGACCCGACGC chr22:39670992-Alternative-T;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Reference G ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat ATTAAGGACGGT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAattaaggacggtAGATCGAGACCCGACGC chr22:39670992-Reference-G;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Variant A ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GATAGTTGGCAA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAgatagttggcaaAGATCGAGACCCGACGC chr22:39670992-Variant-A;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative C ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CGGTCGATTCGA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAcggtcgattcgaAGATCGAGACCCGACGC chr22:39670992-Alternative-C;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative T ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GATTGCAGGCGA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAgattgcaggcgaAGATCGAGACCCGACGC chr22:39670992-Alternative-T;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Reference G ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GATGAGATAAGG CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAgatgagataaggAGATCGAGACCCGACGC chr22:39670992-Reference-G;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Reference G ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CGCTCTATCCAA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAcgctctatccaaAGATCGAGACCCGACGC chr22:39670992-Reference-G;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative C ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat ACCGTGGCGTAA CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAaccgtggcgtaaAGATCGAGACCCGACGC chr22:39670992-Alternative-C;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Variant A ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat ATAGTGCGGTCT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAatagtgcggtctAGATCGAGACCCGACGC chr22:39670992-Variant-A;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Variant A ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CACGAACCTGGT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAcacgaacctggtAGATCGAGACCCGACGC chr22:39670992-Variant-A;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative C ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CTAATGATCGCT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccCtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAActaatgatcgctAGATCGAGACCCGACGC chr22:39670992-Alternative-C;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Variant A ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat GATTAGGTTCGC CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccAtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAgattaggttcgcAGATCGAGACCCGACGC chr22:39670992-Variant-A;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative T ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat AGGAAGTTGGCG CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAaggaagttggcgAGATCGAGACCCGACGC chr22:39670992-Alternative-T;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Reference G ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat CAGATAATAGCG CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccGtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAcagataatagcgAGATCGAGACCCGACGC chr22:39670992-Reference-G;Patient-74 chr22:39670992-GA DeNovo Patient-74 intergenic 6.4e-05 0.000513 -0.24 0.55 -0.38 PDGFB 30034 Alternative T ctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaat AGTAGCCGGTGT CGACGCGGTCTCTCTCTctgggaaccagacagcaggtttctgtctccagctctgcaactaacccaccTtgacaccttgacccagtctctgctcctctctgagcctcagtttcccaatAGAGGGAGACGGACGTCTCAATAAagtagccggtgtAGATCGAGACCCGACGC chr22:39670992-Alternative-T;Patient-74 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Reference C tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc AACCAACCGAAT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaaccaaccgaatAGATCGAGACCCGACGC chr22:39701568-Reference-C;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Reference C tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CTTACGACGGAC CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAActtacgacggacAGATCGAGACCCGACGC chr22:39701568-Reference-C;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Reference C tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CGACGTGACGAA CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgacgtgacgaaAGATCGAGACCCGACGC chr22:39701568-Reference-C;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Reference C tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CGTAACATTAGG CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgtaacattaggAGATCGAGACCCGACGC chr22:39701568-Reference-C;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Reference C tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CGTTATTAGTGG CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcCgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgttattagtggAGATCGAGACCCGACGC chr22:39701568-Reference-C;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative A tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc AGCTGTGATTCA CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAagctgtgattcaAGATCGAGACCCGACGC chr22:39701568-Alternative-A;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative G tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc AAGGTTGAACCG CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaaggttgaaccgAGATCGAGACCCGACGC chr22:39701568-Alternative-G;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative G tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc GCAACGAGCTAA CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcaacgagctaaAGATCGAGACCCGACGC chr22:39701568-Alternative-G;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative A tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc AAGTCGCAGAGT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAaagtcgcagagtAGATCGAGACCCGACGC chr22:39701568-Alternative-A;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative A tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc ACTGGTCGGTTC CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAactggtcggttcAGATCGAGACCCGACGC chr22:39701568-Alternative-A;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative A tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc GGTGGTGGTAGT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAggtggtggtagtAGATCGAGACCCGACGC chr22:39701568-Alternative-A;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative G tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc ATCCGGTAAGCG CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAatccggtaagcgAGATCGAGACCCGACGC chr22:39701568-Alternative-G;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative G tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc ATCGGTAAGCTT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAatcggtaagcttAGATCGAGACCCGACGC chr22:39701568-Alternative-G;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative G tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc GATCGAATCGGC CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcGgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgatcgaatcggcAGATCGAGACCCGACGC chr22:39701568-Alternative-G;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Alternative A tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CAGTTGGCGTGA CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcAgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcagttggcgtgaAGATCGAGACCCGACGC chr22:39701568-Alternative-A;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Variant T tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc AGAACGCGGCAT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAagaacgcggcatAGATCGAGACCCGACGC chr22:39701568-Variant-T;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Variant T tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc GCAACGCTTACG CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAgcaacgcttacgAGATCGAGACCCGACGC chr22:39701568-Variant-T;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Variant T tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CGTAGTTCGCGT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcgtagttcgcgtAGATCGAGACCCGACGC chr22:39701568-Variant-T;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Variant T tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc CAACGACGTAAT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAcaacgacgtaatAGATCGAGACCCGACGC chr22:39701568-Variant-T;Patient-62 chr22:39701568-CT DeNovo Patient-62 intergenic 0.000868 0.000513 0 2.57 0 RPL3 14101 Variant T tgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggc ATATTCGTCGCT CGACGCGGTCTCTCTCTtgttaatcaactgttttcacagtcaacagtaagttattggtagttaaggcTgggtgcagcgtcgcatgcctgtaatcccagcactttgggaggctgaggcAGAGGGAGACGGACGTCTCAATAAatattcgtcgctAGATCGAGACCCGACGC chr22:39701568-Variant-T;Patient-62 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Reference C tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc AGGAGGACTCGT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAaggaggactcgtAGATCGAGACCCGACGC chr22:40353630-Reference-C;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Reference C tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GATTGCGGACGA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgattgcggacgaAGATCGAGACCCGACGC chr22:40353630-Reference-C;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Reference C tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc CATCAATCGTCC CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAcatcaatcgtccAGATCGAGACCCGACGC chr22:40353630-Reference-C;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Reference C tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GAATAAGCGGAA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgaataagcggaaAGATCGAGACCCGACGC chr22:40353630-Reference-C;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Reference C tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc AATCGACGGTCC CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaCaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAaatcgacggtccAGATCGAGACCCGACGC chr22:40353630-Reference-C;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Variant A tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GACGATGCGGAA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgacgatgcggaaAGATCGAGACCCGACGC chr22:40353630-Variant-A;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Variant A tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GATAGCCTTAGT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgatagccttagtAGATCGAGACCCGACGC chr22:40353630-Variant-A;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Variant A tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc AGCAGTGCAACG CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAagcagtgcaacgAGATCGAGACCCGACGC chr22:40353630-Variant-A;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Variant A tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc CGGCATGAGAGT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAcggcatgagagtAGATCGAGACCCGACGC chr22:40353630-Variant-A;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Variant A tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GGATACCGTTAT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaAaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAggataccgttatAGATCGAGACCCGACGC chr22:40353630-Variant-A;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative T tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GTGTAAGAGTAC CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgtgtaagagtacAGATCGAGACCCGACGC chr22:40353630-Alternative-T;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative T tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc AGAGTGTTACCT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAagagtgttacctAGATCGAGACCCGACGC chr22:40353630-Alternative-T;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative T tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GGCACCATTATA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAggcaccattataAGATCGAGACCCGACGC chr22:40353630-Alternative-T;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative T tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GGTCGTCAATCG CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAggtcgtcaatcgAGATCGAGACCCGACGC chr22:40353630-Alternative-T;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative T tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc CATCAGATTCCT CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaTaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAcatcagattcctAGATCGAGACCCGACGC chr22:40353630-Alternative-T;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative G tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc ATTCGTCGGCAG CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAattcgtcggcagAGATCGAGACCCGACGC chr22:40353630-Alternative-G;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative G tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GGTCATATAAGG CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAggtcatataaggAGATCGAGACCCGACGC chr22:40353630-Alternative-G;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative G tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc ATAACGCAGCAA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAataacgcagcaaAGATCGAGACCCGACGC chr22:40353630-Alternative-G;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative G tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc GTATCAGTACGC CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAgtatcagtacgcAGATCGAGACCCGACGC chr22:40353630-Alternative-G;Patient-30 chr22:40353630-CA Inherited Patient-30 intronic GRAP2 6.4e-05 4.95e-05 NA NA NA GRAP2 56543 Alternative G tgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgcc AGTCGTCGATTA CGACGCGGTCTCTCTCTtgtcagcaaacacacacgctgcaatttctcccaacttaccaaaacacaaaGaaacaaaaccaaacccagaggccaggtgggttttgttgtggctgatgccAGAGGGAGACGGACGTCTCAATAAagtcgtcgattaAGATCGAGACCCGACGC chr22:40353630-Alternative-G;Patient-30 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Reference T tttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat ATTACCGACAGT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAattaccgacagtAGATCGAGACCCGACGC chr22:41327298-Reference-T;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Reference T tttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CTTATATCTCGG CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAActtatatctcggAGATCGAGACCCGACGC chr22:41327298-Reference-T;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Reference T tttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat AATACGGTTGTC CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAaatacggttgtcAGATCGAGACCCGACGC chr22:41327298-Reference-T;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative A tttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat GCGATTGTGCGA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAgcgattgtgcgaAGATCGAGACCCGACGC chr22:41327298-Alternative-A;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Reference T tttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat GTCGGACTACCA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAgtcggactaccaAGATCGAGACCCGACGC chr22:41327298-Reference-T;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative A tttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat ACAAGCATCTAC CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAacaagcatctacAGATCGAGACCCGACGC chr22:41327298-Alternative-A;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative A tttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CTTAGATCCACG CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAActtagatccacgAGATCGAGACCCGACGC chr22:41327298-Alternative-A;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Reference T tttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat AAGATCGCTTCT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccTaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAaagatcgcttctAGATCGAGACCCGACGC chr22:41327298-Reference-T;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative A tttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CTCGCGCAAGTT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAActcgcgcaagttAGATCGAGACCCGACGC chr22:41327298-Alternative-A;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative C tttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat ACGCTTGACGCA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAacgcttgacgcaAGATCGAGACCCGACGC chr22:41327298-Alternative-C;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Variant G tttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat AGCATGCATCGT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAagcatgcatcgtAGATCGAGACCCGACGC chr22:41327298-Variant-G;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative A tttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CGTTGGTCTTCG CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccAaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAcgttggtcttcgAGATCGAGACCCGACGC chr22:41327298-Alternative-A;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Variant G tttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat AAGTCAGAACGT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAaagtcagaacgtAGATCGAGACCCGACGC chr22:41327298-Variant-G;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Variant G tttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat GACTAGACGATA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAgactagacgataAGATCGAGACCCGACGC chr22:41327298-Variant-G;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative C tttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat ATCTGGTTGGAT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAatctggttggatAGATCGAGACCCGACGC chr22:41327298-Alternative-C;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative C tttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat AAGGCCAACCGA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAaaggccaaccgaAGATCGAGACCCGACGC chr22:41327298-Alternative-C;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative C tttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CTATGTACGCTT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAActatgtacgcttAGATCGAGACCCGACGC chr22:41327298-Alternative-C;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Variant G tttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat GTGTTGTCGGCA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAgtgttgtcggcaAGATCGAGACCCGACGC chr22:41327298-Variant-G;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Alternative C tttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat ACCGTACTGCGA CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccCaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAaccgtactgcgaAGATCGAGACCCGACGC chr22:41327298-Alternative-C;Patient-54 chr22:41327298-TG DeNovo Patient-54 3 prime UTR XPNPEP3 NA 0.000160205 0.25 6.51 3.34 RBX1 20052 Variant G tttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtat CGAATCGCACGT CGACGCGGTCTCTCTCTtttttctccctgaattgaagatacatggttagatcattaacaataccaccGaaatgaaggaaacatatctggatatccagtgtcacatacttttatgtatAGAGGGAGACGGACGTCTCAATAAcgaatcgcacgtAGATCGAGACCCGACGC chr22:41327298-Variant-G;Patient-54 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative A actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GTATTCTGCCAT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgtattctgccatAGATCGAGACCCGACGC chr22:41478802-Alternative-A;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative A actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtca CGTAGTGCCGAA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAcgtagtgccgaaAGATCGAGACCCGACGC chr22:41478802-Alternative-A;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative A actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GAGGTAGATGGT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgaggtagatggtAGATCGAGACCCGACGC chr22:41478802-Alternative-A;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative G actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca AACTAGCGAACT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAaactagcgaactAGATCGAGACCCGACGC chr22:41478802-Alternative-G;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Variant T actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GTCCGTTAAGAT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgtccgttaagatAGATCGAGACCCGACGC chr22:41478802-Variant-T;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Variant T actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca ACACGAGCTCTA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAacacgagctctaAGATCGAGACCCGACGC chr22:41478802-Variant-T;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative G actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca ATAGATCGGCTA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAatagatcggctaAGATCGAGACCCGACGC chr22:41478802-Alternative-G;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative A actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GTCGTAGGTATT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgtcgtaggtattAGATCGAGACCCGACGC chr22:41478802-Alternative-A;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative A actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtca AGTGTTGGTTGT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagActgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAagtgttggttgtAGATCGAGACCCGACGC chr22:41478802-Alternative-A;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Reference C actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GGCGACTCGTTA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAggcgactcgttaAGATCGAGACCCGACGC chr22:41478802-Reference-C;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Variant T actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca ATCACGTCCGTC CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAatcacgtccgtcAGATCGAGACCCGACGC chr22:41478802-Variant-T;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Variant T actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca CGGTGTTATAAG CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAcggtgttataagAGATCGAGACCCGACGC chr22:41478802-Variant-T;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Reference C actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca CGTTCGACGTCT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAcgttcgacgtctAGATCGAGACCCGACGC chr22:41478802-Reference-C;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Variant T actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GCATGTGGTATC CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagTctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgcatgtggtatcAGATCGAGACCCGACGC chr22:41478802-Variant-T;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Reference C actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca AGGTGACGATGC CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAaggtgacgatgcAGATCGAGACCCGACGC chr22:41478802-Reference-C;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Reference C actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca ACCTCGGTATCG CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAacctcggtatcgAGATCGAGACCCGACGC chr22:41478802-Reference-C;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Reference C actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GCAGGCCAAGTT CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagCctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgcaggccaagttAGATCGAGACCCGACGC chr22:41478802-Reference-C;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative G actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca CACAACGTCCGA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAcacaacgtccgaAGATCGAGACCCGACGC chr22:41478802-Alternative-G;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative G actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca ACAAGAGTGCGG CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAacaagagtgcggAGATCGAGACCCGACGC chr22:41478802-Alternative-G;Patient-56 chr22:41478802-CT DeNovo Patient-56 intergenic NA 0.000512821 -0.04 2.09 0 EP300 9811 Alternative G actctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtca GTGCGCTACGAA CGACGCGGTCTCTCTCTactctgtctcaaaaaataaaaataaaaaaggctgggcacggtggctctagGctgtaatcccagcactttgggaggccgagggggatggatcatgaggtcaAGAGGGAGACGGACGTCTCAATAAgtgcgctacgaaAGATCGAGACCCGACGC chr22:41478802-Alternative-G;Patient-56 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Variant A tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcat GTTGTTCGCGAG CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAgttgttcgcgagAGATCGAGACCCGACGC chr22:42022244-Variant-A;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Variant A tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AATCTCCGAGCA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaatctccgagcaAGATCGAGACCCGACGC chr22:42022244-Variant-A;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Variant A tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CACAACCAGCTA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAcacaaccagctaAGATCGAGACCCGACGC chr22:42022244-Variant-A;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative G tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AGGACGGTGACT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaggacggtgactAGATCGAGACCCGACGC chr22:42022244-Alternative-G;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Variant A tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CGTTGTCTAACT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAcgttgtctaactAGATCGAGACCCGACGC chr22:42022244-Variant-A;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative G tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AAGTCCGTGATT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaagtccgtgattAGATCGAGACCCGACGC chr22:42022244-Alternative-G;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative C tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcat GATTACTGGTGT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAgattactggtgtAGATCGAGACCCGACGC chr22:42022244-Alternative-C;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative G tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AACTCGTGATAC CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaactcgtgatacAGATCGAGACCCGACGC chr22:42022244-Alternative-G;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative C tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcat GGTCTGAGCAAG CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAggtctgagcaagAGATCGAGACCCGACGC chr22:42022244-Alternative-C;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative G tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AGACCGGCAGAT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAagaccggcagatAGATCGAGACCCGACGC chr22:42022244-Alternative-G;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Reference T tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CTAACTGCTGTT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAActaactgctgttAGATCGAGACCCGACGC chr22:42022244-Reference-T;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Variant A tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CTCAATAGGCTA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatAcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAActcaataggctaAGATCGAGACCCGACGC chr22:42022244-Variant-A;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative G tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcat GTTGACAGCTAA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatGcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAgttgacagctaaAGATCGAGACCCGACGC chr22:42022244-Alternative-G;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Reference T tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AACTCGGTATCA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaactcggtatcaAGATCGAGACCCGACGC chr22:42022244-Reference-T;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative C tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcat ATTCGCGTACGG CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAattcgcgtacggAGATCGAGACCCGACGC chr22:42022244-Alternative-C;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Reference T tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CGGAGTTGCTTC CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAcggagttgcttcAGATCGAGACCCGACGC chr22:42022244-Reference-T;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative C tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcat AACGACTGTCAT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAaacgactgtcatAGATCGAGACCCGACGC chr22:42022244-Alternative-C;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Alternative C tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcat ATAGTATGCGGT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatCcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAatagtatgcggtAGATCGAGACCCGACGC chr22:42022244-Alternative-C;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Reference T tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcat CTAAGGTAGGAT CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAActaaggtaggatAGATCGAGACCCGACGC chr22:42022244-Reference-T;Patient-55 chr22:42022244-TA DeNovo Patient-55 intronic XRCC6 NA 4.95e-05 0.01 2.76 0.11 XRCC6 4948 Reference T tggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcat ATAGGTGTCTGA CGACGCGGTCTCTCTCTtggagtgcagtggcgcgatcttggctcactgcagcctctgcgtcccagatTcaagcgattctcccacctcagcctccatagtagctgggattacaggcatAGAGGGAGACGGACGTCTCAATAAataggtgtctgaAGATCGAGACCCGACGC chr22:42022244-Reference-T;Patient-55 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative T ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga GGCCATAACTTA CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAggccataacttaAGATCGAGACCCGACGC chr22:42054076-Alternative-T;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative A ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctga GGTCAGTAGATT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAggtcagtagattAGATCGAGACCCGACGC chr22:42054076-Alternative-A;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Reference C ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga GTCTCGACACCT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAgtctcgacacctAGATCGAGACCCGACGC chr22:42054076-Reference-C;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Reference C ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga CGATAGTAGTCA CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAcgatagtagtcaAGATCGAGACCCGACGC chr22:42054076-Reference-C;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative A ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctga CAGCATATAAGG CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAcagcatataaggAGATCGAGACCCGACGC chr22:42054076-Alternative-A;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative A ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctga CGTGACGGCTAT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAcgtgacggctatAGATCGAGACCCGACGC chr22:42054076-Alternative-A;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Reference C ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga AGCAGTTACTGA CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAagcagttactgaAGATCGAGACCCGACGC chr22:42054076-Reference-C;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative T ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga AAGACTACTTCG CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAaagactacttcgAGATCGAGACCCGACGC chr22:42054076-Alternative-T;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Variant G ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga AACTTCTATCGC CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAaacttctatcgcAGATCGAGACCCGACGC chr22:42054076-Variant-G;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative A ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctga ATCCGAGCGATT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAatccgagcgattAGATCGAGACCCGACGC chr22:42054076-Alternative-A;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Variant G ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga AGTGTTCAGGTT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAagtgttcaggttAGATCGAGACCCGACGC chr22:42054076-Variant-G;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Reference C ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga ACTAGTGGCCGA CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAactagtggccgaAGATCGAGACCCGACGC chr22:42054076-Reference-C;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Reference C ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga GGTTGACATCGC CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaCcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAggttgacatcgcAGATCGAGACCCGACGC chr22:42054076-Reference-C;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Variant G ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga CAACCTTAACGT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAcaaccttaacgtAGATCGAGACCCGACGC chr22:42054076-Variant-G;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Variant G ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga ACGAGCGCTAAC CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAacgagcgctaacAGATCGAGACCCGACGC chr22:42054076-Variant-G;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative A ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctga AGGCTCAATACG CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaActtggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAaggctcaatacgAGATCGAGACCCGACGC chr22:42054076-Alternative-A;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Variant G ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga GAGCTAGATAGA CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaGcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAgagctagatagaAGATCGAGACCCGACGC chr22:42054076-Variant-G;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative T ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga ATAGCGTTACGT CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAatagcgttacgtAGATCGAGACCCGACGC chr22:42054076-Alternative-T;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative T ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga GAAGATCCGACG CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAgaagatccgacgAGATCGAGACCCGACGC chr22:42054076-Alternative-T;Patient-97 chr22:42054076-CG DeNovo Patient-97 intronic XRCC6 0.000414 0.000532 0.24 6.44 0.46 SNU13 30836 Alternative T ccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctga AAGACGAGAGCG CGACGCGGTCTCTCTCTccatgttgtccaagctggtcttgaactgctagactcaagcattccgcctaTcttggcctaccaaagtgctgggattacaggcatgggctactgcacctgaAGAGGGAGACGGACGTCTCAATAAaagacgagagcgAGATCGAGACCCGACGC chr22:42054076-Alternative-T;Patient-97 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative G actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CGGACAGTTCCT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcggacagttcctAGATCGAGACCCGACGC chr22:42081707-Alternative-G;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Variant T actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag GTGACGTAAGTT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgtgacgtaagttAGATCGAGACCCGACGC chr22:42081707-Variant-T;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Variant T actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ACGTGGACACTT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAacgtggacacttAGATCGAGACCCGACGC chr22:42081707-Variant-T;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative G actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag AAGTGGCATTCT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAaagtggcattctAGATCGAGACCCGACGC chr22:42081707-Alternative-G;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Variant T actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ACTCCTAATGCT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAactcctaatgctAGATCGAGACCCGACGC chr22:42081707-Variant-T;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative G actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag GTACTTGCGCGA CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgtacttgcgcgaAGATCGAGACCCGACGC chr22:42081707-Alternative-G;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Variant T actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CGACACTCGAGT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcgacactcgagtAGATCGAGACCCGACGC chr22:42081707-Variant-T;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Variant T actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ACTTGAGTGGTT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaTgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAacttgagtggttAGATCGAGACCCGACGC chr22:42081707-Variant-T;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative A actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag GGAGATCCTACA CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAggagatcctacaAGATCGAGACCCGACGC chr22:42081707-Alternative-A;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Reference C actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ACGCGTACGTGA CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAacgcgtacgtgaAGATCGAGACCCGACGC chr22:42081707-Reference-C;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative A actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CGGATAGACCTT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcggatagaccttAGATCGAGACCCGACGC chr22:42081707-Alternative-A;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative A actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag AACGCGCAACGT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAaacgcgcaacgtAGATCGAGACCCGACGC chr22:42081707-Alternative-A;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Reference C actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag AAGGTTCAACGA CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAaaggttcaacgaAGATCGAGACCCGACGC chr22:42081707-Reference-C;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Reference C actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag GTCATAAGCGCG CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAgtcataagcgcgAGATCGAGACCCGACGC chr22:42081707-Reference-C;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Reference C actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CACAGCGAGATT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcacagcgagattAGATCGAGACCCGACGC chr22:42081707-Reference-C;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative A actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ATTCTGGTGAAC CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAattctggtgaacAGATCGAGACCCGACGC chr22:42081707-Alternative-A;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative A actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CAGACTCGACAT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaAgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAcagactcgacatAGATCGAGACCCGACGC chr22:42081707-Alternative-A;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Reference C actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ACAGCTGTAGAA CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaCgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAacagctgtagaaAGATCGAGACCCGACGC chr22:42081707-Reference-C;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative G actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag ATTACGGCATGT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAAattacggcatgtAGATCGAGACCCGACGC chr22:42081707-Alternative-G;Patient-105 chr22:42081707-CT DeNovo Patient-105 intronic SNU13 0.000129 0.000142194 -0.03 2.2 0 SNU13 3205 Alternative G actcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgag CTATCGAATGGT CGACGCGGTCTCTCTCTactcctggctaattaaaaaaaaaattgtttaggctgggtgtggtggctcaGgcctgtaatcccacctctttgggaggctgaggcaggcagatcacttgagAGAGGGAGACGGACGTCTCAATAActatcgaatggtAGATCGAGACCCGACGC chr22:42081707-Alternative-G;Patient-105 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Variant A cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CGGTGGACCATT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAcggtggaccattAGATCGAGACCCGACGC chr22:42252854-Variant-A;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Variant A cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GATGCTTACGAT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgatgcttacgatAGATCGAGACCCGACGC chr22:42252854-Variant-A;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Variant A cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CTGAAGCTCCGA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAActgaagctccgaAGATCGAGACCCGACGC chr22:42252854-Variant-A;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative C cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct AAGGCCACCACA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAaaggccaccacaAGATCGAGACCCGACGC chr22:42252854-Alternative-C;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative C cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct AGAGGTTGACTA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAagaggttgactaAGATCGAGACCCGACGC chr22:42252854-Alternative-C;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Variant A cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct AGCTGTGTTGAT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAagctgtgttgatAGATCGAGACCCGACGC chr22:42252854-Variant-A;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative T cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GGTTGCCTCGTT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAggttgcctcgttAGATCGAGACCCGACGC chr22:42252854-Alternative-T;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative T cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CATCTGCGAATA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAcatctgcgaataAGATCGAGACCCGACGC chr22:42252854-Alternative-T;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative C cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GATGCAGCATAA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgatgcagcataaAGATCGAGACCCGACGC chr22:42252854-Alternative-C;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative C cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CAACCGTAGATA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAcaaccgtagataAGATCGAGACCCGACGC chr22:42252854-Alternative-C;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Reference G cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct AGCGCATTCGGT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAagcgcattcggtAGATCGAGACCCGACGC chr22:42252854-Reference-G;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Variant A cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GACCTGTCGGAT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtAgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgacctgtcggatAGATCGAGACCCGACGC chr22:42252854-Variant-A;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative T cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CGAGATGATCCA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAcgagatgatccaAGATCGAGACCCGACGC chr22:42252854-Alternative-T;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative C cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GCGTCATAGCGA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtCgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgcgtcatagcgaAGATCGAGACCCGACGC chr22:42252854-Alternative-C;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative T cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct AAGCGTCTTGAA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAaagcgtcttgaaAGATCGAGACCCGACGC chr22:42252854-Alternative-T;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Reference G cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct CTCGGAATACCA CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAActcggaataccaAGATCGAGACCCGACGC chr22:42252854-Reference-G;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Alternative T cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GTAACGATATGG CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtTgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgtaacgatatggAGATCGAGACCCGACGC chr22:42252854-Alternative-T;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Reference G cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GGTAGTATAGGT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAggtagtataggtAGATCGAGACCCGACGC chr22:42252854-Reference-G;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Reference G cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct GTTGAGCGATGG CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAgttgagcgatggAGATCGAGACCCGACGC chr22:42252854-Reference-G;Patient-79 chr22:42252854-GA DeNovo Patient-79 intronic SREBF2 0.000319 9.9e-05 -0.01 2.43 0.15 SREBF2 23770 Reference G cacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtct ACCGTCCGTTGT CGACGCGGTCTCTCTCTcacggtggcttatgcctataatcccagcactttgggaggctgaggcaggtGgatcacctaaggtcaggagttcaagaccagcctggccaacacgaagtctAGAGGGAGACGGACGTCTCAATAAaccgtccgttgtAGATCGAGACCCGACGC chr22:42252854-Reference-G;Patient-79 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative T tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GGTAACGCCACA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAggtaacgccacaAGATCGAGACCCGACGC chr22:42337234-Alternative-T;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative G tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag ACTTGCTGCCAC CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAacttgctgccacAGATCGAGACCCGACGC chr22:42337234-Alternative-G;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative T tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag CTCTTACACGGC CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAActcttacacggcAGATCGAGACCCGACGC chr22:42337234-Alternative-T;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative G tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag ATTACGGACCAT CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAattacggaccatAGATCGAGACCCGACGC chr22:42337234-Alternative-G;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative G tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GCAACGTGGACA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAgcaacgtggacaAGATCGAGACCCGACGC chr22:42337234-Alternative-G;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative T tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GATGCGTCTATA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAgatgcgtctataAGATCGAGACCCGACGC chr22:42337234-Alternative-T;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative G tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GCGCCGTTGTTA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAgcgccgttgttaAGATCGAGACCCGACGC chr22:42337234-Alternative-G;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative T tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GATAGTTACGTC CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAgatagttacgtcAGATCGAGACCCGACGC chr22:42337234-Alternative-T;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative T tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag AAGGCACGCCAA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcTagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAaaggcacgccaaAGATCGAGACCCGACGC chr22:42337234-Alternative-T;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Alternative G tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag ACCGTCAAGTCT CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcGagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAaccgtcaagtctAGATCGAGACCCGACGC chr22:42337234-Alternative-G;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Reference A tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GGCGTATCCTAC CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAggcgtatcctacAGATCGAGACCCGACGC chr22:42337234-Reference-A;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Reference A tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GGCGGACAGTTA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAggcggacagttaAGATCGAGACCCGACGC chr22:42337234-Reference-A;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Reference A tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag CTCTATCAACCG CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAActctatcaaccgAGATCGAGACCCGACGC chr22:42337234-Reference-A;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Reference A tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag AGCTAGCTCGCA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAagctagctcgcaAGATCGAGACCCGACGC chr22:42337234-Reference-A;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Variant C tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag CATAGTTGTGCA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAcatagttgtgcaAGATCGAGACCCGACGC chr22:42337234-Variant-C;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Reference A tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag AGGCCAATAAGT CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcAagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAaggccaataagtAGATCGAGACCCGACGC chr22:42337234-Reference-A;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Variant C tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag CTTGATCCTCAA CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAActtgatcctcaaAGATCGAGACCCGACGC chr22:42337234-Variant-C;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Variant C tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag CAACATCAACGC CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAcaacatcaacgcAGATCGAGACCCGACGC chr22:42337234-Variant-C;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Variant C tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GGATAGGCTGAT CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAggataggctgatAGATCGAGACCCGACGC chr22:42337234-Variant-C;Patient-77 chr22:42337234-AC DeNovo Patient-77 intronic CENPM 6.4e-05 4.95e-05 NA NA NA CENPM 5913 Variant C tttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaag GAGTAGGTACAT CGACGCGGTCTCTCTCTtttcctcatcaatggaacggggccggtaattcctgccacgcaaaggcctcCagatatatggtggggcttaaactcaattatgcagaagagtgttctgaagAGAGGGAGACGGACGTCTCAATAAgagtaggtacatAGATCGAGACCCGACGC chr22:42337234-Variant-C;Patient-77 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Reference T gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CGTTCGAATAGG CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcgttcgaataggAGATCGAGACCCGACGC chr22:44261605-Reference-T;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative A gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc ACACACGTACGT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAacacacgtacgtAGATCGAGACCCGACGC chr22:44261605-Alternative-A;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative A gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GCGAAGATAGAA CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgcgaagatagaaAGATCGAGACCCGACGC chr22:44261605-Alternative-A;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Variant C gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GTTCTATGCGAA CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgttctatgcgaaAGATCGAGACCCGACGC chr22:44261605-Variant-C;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Reference T gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc AGCATATAACGC CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAagcatataacgcAGATCGAGACCCGACGC chr22:44261605-Reference-T;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative A gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CAAGCAAGCGTC CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcaagcaagcgtcAGATCGAGACCCGACGC chr22:44261605-Alternative-A;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative G gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GCGTTCAGCGAT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgcgttcagcgatAGATCGAGACCCGACGC chr22:44261605-Alternative-G;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative G gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GAATATGGCGAG CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgaatatggcgagAGATCGAGACCCGACGC chr22:44261605-Alternative-G;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative G gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GCGAGTCGTACT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgcgagtcgtactAGATCGAGACCCGACGC chr22:44261605-Alternative-G;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative A gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GCAACTGTGTGC CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgcaactgtgtgcAGATCGAGACCCGACGC chr22:44261605-Alternative-A;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Variant C gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CGCAGTTATCCT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcgcagttatcctAGATCGAGACCCGACGC chr22:44261605-Variant-C;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Reference T gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GACCATTATCGC CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAgaccattatcgcAGATCGAGACCCGACGC chr22:44261605-Reference-T;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative A gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc GGAGTTCTACGA CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcAggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAggagttctacgaAGATCGAGACCCGACGC chr22:44261605-Alternative-A;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Variant C gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CTGTCTTCGCGT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAActgtcttcgcgtAGATCGAGACCCGACGC chr22:44261605-Variant-C;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Variant C gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc AACCGGAGGTTC CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAaaccggaggttcAGATCGAGACCCGACGC chr22:44261605-Variant-C;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Reference T gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc AACTTATCGGCA CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAaacttatcggcaAGATCGAGACCCGACGC chr22:44261605-Reference-T;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Variant C gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CTTACCGCCGTT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcCggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAActtaccgccgttAGATCGAGACCCGACGC chr22:44261605-Variant-C;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative G gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CGTTGAACGGAG CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcgttgaacggagAGATCGAGACCCGACGC chr22:44261605-Alternative-G;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Reference T gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CGTTGAACTCTT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcTggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcgttgaactcttAGATCGAGACCCGACGC chr22:44261605-Reference-T;Patient-62 chr22:44261605-TC DeNovo Patient-62 intergenic NA 0.000513 -0.22 0.62 0 SAMM50 89655 Alternative G gctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttc CAACACGCTATT CGACGCGGTCTCTCTCTgctataatgaattaccacaaactcagctctgtaagtcagaagtctgatgcGggtaccactagaccaaaaggaaggtgtcagcagggctagcattcctttcAGAGGGAGACGGACGTCTCAATAAcaacacgctattAGATCGAGACCCGACGC chr22:44261605-Alternative-G;Patient-62 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative G aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GTTCGATACAGT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgttcgatacagtAGATCGAGACCCGACGC chr22:45463746-Alternative-G;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative G aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AGCTTACGGTTA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAagcttacggttaAGATCGAGACCCGACGC chr22:45463746-Alternative-G;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative G aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GAGCTCTCGCTT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgagctctcgcttAGATCGAGACCCGACGC chr22:45463746-Alternative-G;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative G aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AAGGCTAGGTTA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAaaggctaggttaAGATCGAGACCCGACGC chr22:45463746-Alternative-G;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Reference T aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GTAAGTTCGCGC CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgtaagttcgcgcAGATCGAGACCCGACGC chr22:45463746-Reference-T;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Reference T aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AATAGTCACCGC CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAaatagtcaccgcAGATCGAGACCCGACGC chr22:45463746-Reference-T;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Reference T aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AGTGACGTTGTT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAagtgacgttgttAGATCGAGACCCGACGC chr22:45463746-Reference-T;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Reference T aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AATAGGTGGTAC CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAaataggtggtacAGATCGAGACCCGACGC chr22:45463746-Reference-T;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Reference T aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GGCTCCGAAGTT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaTagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAggctccgaagttAGATCGAGACCCGACGC chr22:45463746-Reference-T;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative A aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GCGACACAGGAT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgcgacacaggatAGATCGAGACCCGACGC chr22:45463746-Alternative-A;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative A aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GGATGAACAAGT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAggatgaacaagtAGATCGAGACCCGACGC chr22:45463746-Alternative-A;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative G aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AGTTGGTACGAA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaGagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAagttggtacgaaAGATCGAGACCCGACGC chr22:45463746-Alternative-G;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative A aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GAGTTGATACCA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgagttgataccaAGATCGAGACCCGACGC chr22:45463746-Alternative-A;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative A aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GATGTGCGAATA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgatgtgcgaataAGATCGAGACCCGACGC chr22:45463746-Alternative-A;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Alternative A aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg CGTACACGATTA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaAagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAcgtacacgattaAGATCGAGACCCGACGC chr22:45463746-Alternative-A;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Variant C aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GTCGAGTACTTA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgtcgagtacttaAGATCGAGACCCGACGC chr22:45463746-Variant-C;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Variant C aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AGATCCGCGGAA CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAagatccgcggaaAGATCGAGACCCGACGC chr22:45463746-Variant-C;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Variant C aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg CGTCGGTGTAGT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAcgtcggtgtagtAGATCGAGACCCGACGC chr22:45463746-Variant-C;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Variant C aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg AATCGTGTAAGG CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAaatcgtgtaaggAGATCGAGACCCGACGC chr22:45463746-Variant-C;Patient-65 chr22:45463746-TC Inherited Patient-65 intergenic 0.000988 0.00103 -0.15 0.99 -0.99 NUP50 95979 Variant C aacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttgg GTAGTGCTAGTT CGACGCGGTCTCTCTCTaacttagtggcttcaaacaatcatgtgtttttatgagctgcagattgtcaCagtttggctgacggaggctgggctcagtggatgcctctgctgatcttggAGAGGGAGACGGACGTCTCAATAAgtagtgctagttAGATCGAGACCCGACGC chr22:45463746-Variant-C;Patient-65 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative A gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ACGGTGAGTGTT CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAacggtgagtgttAGATCGAGACCCGACGC chr22:45994181-Alternative-A;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative G gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CTATCTAGCGCG CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAActatctagcgcgAGATCGAGACCCGACGC chr22:45994181-Alternative-G;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative A gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ATCGACGACGAG CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAatcgacgacgagAGATCGAGACCCGACGC chr22:45994181-Alternative-A;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Variant T gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CTATGAGGCTAA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAActatgaggctaaAGATCGAGACCCGACGC chr22:45994181-Variant-T;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative G gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ATTGTTCAGCGA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAattgttcagcgaAGATCGAGACCCGACGC chr22:45994181-Alternative-G;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Variant T gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctg GAGAGTTGGTAA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAgagagttggtaaAGATCGAGACCCGACGC chr22:45994181-Variant-T;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative G gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CACAACACATTC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAcacaacacattcAGATCGAGACCCGACGC chr22:45994181-Alternative-G;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative G gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CAGACAACGCGT CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAcagacaacgcgtAGATCGAGACCCGACGC chr22:45994181-Alternative-G;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative G gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ACCACGCGTAGA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacGggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAaccacgcgtagaAGATCGAGACCCGACGC chr22:45994181-Alternative-G;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative A gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctg GACGAGTGTATC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAgacgagtgtatcAGATCGAGACCCGACGC chr22:45994181-Alternative-A;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Variant T gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CTAAGTAAGGAC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAActaagtaaggacAGATCGAGACCCGACGC chr22:45994181-Variant-T;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Variant T gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctg AAGATGCTCGAA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAaagatgctcgaaAGATCGAGACCCGACGC chr22:45994181-Variant-T;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Reference C gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctg CGATTAACCTTC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAcgattaaccttcAGATCGAGACCCGACGC chr22:45994181-Reference-C;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Reference C gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctg GATTGCGTGGAG CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAgattgcgtggagAGATCGAGACCCGACGC chr22:45994181-Reference-C;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Variant T gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctg AGCGTGAACGTC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacTggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAagcgtgaacgtcAGATCGAGACCCGACGC chr22:45994181-Variant-T;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative A gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctg GTACTACTCTAC CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAgtactactctacAGATCGAGACCCGACGC chr22:45994181-Alternative-A;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Alternative A gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ACTACCGACTGA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacAggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAactaccgactgaAGATCGAGACCCGACGC chr22:45994181-Alternative-A;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Reference C gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ATCTCGTTAGCT CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAatctcgttagctAGATCGAGACCCGACGC chr22:45994181-Reference-C;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Reference C gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ATTGACGTGGAA CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAattgacgtggaaAGATCGAGACCCGACGC chr22:45994181-Reference-C;Patient-62 chr22:45994181-CT DeNovo Patient-62 intronic FBLN1 9.6e-05 4.95e-05 0.27 6.76 2 FBLN1 95417 Reference C gcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctg ATATGAGCGAGT CGACGCGGTCTCTCTCTgcttgtacacatctctccacaagtccactttcagtgttgccacgtggtacCggaaatttgccatagaaattggccgatggtacgaccagagagccacctgAGAGGGAGACGGACGTCTCAATAAatatgagcgagtAGATCGAGACCCGACGC chr22:45994181-Reference-C;Patient-62 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Variant T tttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagattt GAGATGCCTATA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgagatgcctataAGATCGAGACCCGACGC chr22:46122243-Variant-T;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Reference C tttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagattt CTGCTTGACAGG CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAActgcttgacaggAGATCGAGACCCGACGC chr22:46122243-Reference-C;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative A tttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagattt CACATAGATCGG CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAcacatagatcggAGATCGAGACCCGACGC chr22:46122243-Alternative-A;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative A tttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagattt ACGTAGATTGTC CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAacgtagattgtcAGATCGAGACCCGACGC chr22:46122243-Alternative-A;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Reference C tttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagattt GACTAGATGAGT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgactagatgagtAGATCGAGACCCGACGC chr22:46122243-Reference-C;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative A tttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagattt AAGAATCTCGCT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAaagaatctcgctAGATCGAGACCCGACGC chr22:46122243-Alternative-A;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Reference C tttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagattt AATAGTTGCGAG CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAaatagttgcgagAGATCGAGACCCGACGC chr22:46122243-Reference-C;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative A tttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagattt GCGATCTAGCGT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgcgatctagcgtAGATCGAGACCCGACGC chr22:46122243-Alternative-A;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Reference C tttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagattt CGCTTAGTGCAT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAcgcttagtgcatAGATCGAGACCCGACGC chr22:46122243-Reference-C;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Reference C tttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagattt GAGTATACCTGT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctCctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgagtatacctgtAGATCGAGACCCGACGC chr22:46122243-Reference-C;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative A tttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagattt AGAGTGTGACAT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctActatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAagagtgtgacatAGATCGAGACCCGACGC chr22:46122243-Alternative-A;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Variant T tttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagattt CGTGTCTCAACC CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAcgtgtctcaaccAGATCGAGACCCGACGC chr22:46122243-Variant-T;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Variant T tttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagattt GATTCATCGAGA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgattcatcgagaAGATCGAGACCCGACGC chr22:46122243-Variant-T;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Variant T tttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagattt CGTATCGACCAC CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAcgtatcgaccacAGATCGAGACCCGACGC chr22:46122243-Variant-T;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Variant T tttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagattt GAGTAGGAGCGA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctTctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgagtaggagcgaAGATCGAGACCCGACGC chr22:46122243-Variant-T;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative G tttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagattt GGTTACTGAACA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAggttactgaacaAGATCGAGACCCGACGC chr22:46122243-Alternative-G;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative G tttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagattt AGCTTGGCATCA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAagcttggcatcaAGATCGAGACCCGACGC chr22:46122243-Alternative-G;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative G tttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagattt CGCTATGCCACA CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAcgctatgccacaAGATCGAGACCCGACGC chr22:46122243-Alternative-G;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative G tttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagattt GGTGAACAGACT CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAggtgaacagactAGATCGAGACCCGACGC chr22:46122243-Alternative-G;Patient-91 chr22:46122243-CT Inherited Patient-91 intronic ATXN10 0.000287 4.95e-05 0.4 8.36 0 ATXN10 54564 Alternative G tttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagattt GTAGCTAGATAC CGACGCGGTCTCTCTCTtttttgttattgattcaatctcactggttgttactggtctgttcagacctGctatttctttctgattcaagctaggagggttgtacgtttccagagatttAGAGGGAGACGGACGTCTCAATAAgtagctagatacAGATCGAGACCCGACGC chr22:46122243-Alternative-G;Patient-91 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative A tcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatc CTTGTCATACCA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAActtgtcataccaAGATCGAGACCCGACGC chr22:46325849-Alternative-A;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Reference C tcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatc GGATATCGAGAA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAggatatcgagaaAGATCGAGACCCGACGC chr22:46325849-Reference-C;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Reference C tcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatc CTGAATGACCTA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAActgaatgacctaAGATCGAGACCCGACGC chr22:46325849-Reference-C;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative A tcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatc ACAACAACAGGT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAacaacaacaggtAGATCGAGACCCGACGC chr22:46325849-Alternative-A;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative A tcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatc CAGCGGTAGTCT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAcagcggtagtctAGATCGAGACCCGACGC chr22:46325849-Alternative-A;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Reference C tcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatc AATCGGTTGGAA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAaatcggttggaaAGATCGAGACCCGACGC chr22:46325849-Reference-C;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Reference C tcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatc ACGAGATCGATT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAacgagatcgattAGATCGAGACCCGACGC chr22:46325849-Reference-C;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative A tcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatc GTAATTCGCCGG CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgtaattcgccggAGATCGAGACCCGACGC chr22:46325849-Alternative-A;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Reference C tcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatc AGGTAGTATGCT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcCatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAaggtagtatgctAGATCGAGACCCGACGC chr22:46325849-Reference-C;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative G tcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatc AAGTCAATCCGT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAaagtcaatccgtAGATCGAGACCCGACGC chr22:46325849-Alternative-G;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative G tcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatc AGGTTAGTACCT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAaggttagtacctAGATCGAGACCCGACGC chr22:46325849-Alternative-G;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative G tcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatc GTATAAGGCTGA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgtataaggctgaAGATCGAGACCCGACGC chr22:46325849-Alternative-G;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Variant T tcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatc AACTTCCGTGAT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAaacttccgtgatAGATCGAGACCCGACGC chr22:46325849-Variant-T;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative G tcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatc CGCTTCTTAGAT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAcgcttcttagatAGATCGAGACCCGACGC chr22:46325849-Alternative-G;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative G tcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatc GATGAAGCCAAC CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcGatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgatgaagccaacAGATCGAGACCCGACGC chr22:46325849-Alternative-G;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Alternative A tcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatc GCGTCGGACATA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcAatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgcgtcggacataAGATCGAGACCCGACGC chr22:46325849-Alternative-A;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Variant T tcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatc GACCGTCTAATA CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgaccgtctaataAGATCGAGACCCGACGC chr22:46325849-Variant-T;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Variant T tcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatc CGTCCACGTATC CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAcgtccacgtatcAGATCGAGACCCGACGC chr22:46325849-Variant-T;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Variant T tcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatc AGCGTACGGAGT CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAagcgtacggagtAGATCGAGACCCGACGC chr22:46325849-Variant-T;Patient-99 chr22:46325849-CT DeNovo Patient-99 intronic WNT7B NA 4.95e-05 -0.34 0.28 -3.01 WNT7B 47158 Variant T tcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatc GTTCGTAGTCGG CGACGCGGTCTCTCTCTtcctcccatccacccactcatccttccatccatccactcatacatctatcTatccatccaacaataacttaataaccacctgcatgataacctccacatcAGAGGGAGACGGACGTCTCAATAAgttcgtagtcggAGATCGAGACCCGACGC chr22:46325849-Variant-T;Patient-99 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative G gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GTCTAGTAGCTA CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgtctagtagctaAGATCGAGACCCGACGC chr22:46567683-Alternative-G;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative G gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg AGCTCCGCAGAT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAagctccgcagatAGATCGAGACCCGACGC chr22:46567683-Alternative-G;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative G gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GCCGATATCGAA CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgccgatatcgaaAGATCGAGACCCGACGC chr22:46567683-Alternative-G;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative G gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GGCTGTGATAAG CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAggctgtgataagAGATCGAGACCCGACGC chr22:46567683-Alternative-G;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative G gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg AATACCAACGCT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcGgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAaataccaacgctAGATCGAGACCCGACGC chr22:46567683-Alternative-G;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Variant T gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GTACGTATGTTC CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgtacgtatgttcAGATCGAGACCCGACGC chr22:46567683-Variant-T;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Variant T gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GTCGTACGAGCT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgtcgtacgagctAGATCGAGACCCGACGC chr22:46567683-Variant-T;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Variant T gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CACATACTCGAA CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAcacatactcgaaAGATCGAGACCCGACGC chr22:46567683-Variant-T;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative A gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GCATCACGGCAT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgcatcacggcatAGATCGAGACCCGACGC chr22:46567683-Alternative-A;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Variant T gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CAAGATTGAAGG CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAcaagattgaaggAGATCGAGACCCGACGC chr22:46567683-Variant-T;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Variant T gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg ACGTAATAAGCG CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcTgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAacgtaataagcgAGATCGAGACCCGACGC chr22:46567683-Variant-T;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative A gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg AAGGCGCCAATT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAaaggcgccaattAGATCGAGACCCGACGC chr22:46567683-Alternative-A;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Reference C gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CTGTTCCGCGAT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAActgttccgcgatAGATCGAGACCCGACGC chr22:46567683-Reference-C;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Reference C gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CTCACGAGGTAA CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAActcacgaggtaaAGATCGAGACCCGACGC chr22:46567683-Reference-C;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative A gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GCCAACCTACTT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgccaacctacttAGATCGAGACCCGACGC chr22:46567683-Alternative-A;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative A gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GTTCTGCGAGGT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgttctgcgaggtAGATCGAGACCCGACGC chr22:46567683-Alternative-A;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Reference C gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CGGAGTACTAAT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAcggagtactaatAGATCGAGACCCGACGC chr22:46567683-Reference-C;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Reference C gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg CATCGAATGCGG CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAcatcgaatgcggAGATCGAGACCCGACGC chr22:46567683-Reference-C;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Reference C gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GCGCATGTTGCT CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcCgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgcgcatgttgctAGATCGAGACCCGACGC chr22:46567683-Reference-C;Patient-86 chr22:46567683-CT DeNovo Patient-86 intronic PPARA NA 0.00016 0.07 3.68 0.01 PPARA 21183 Alternative A gtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatgggg GACTAACGCTTA CGACGCGGTCTCTCTCTgtcaggaggtcccaggggagaggcaggaccagtctcgtggaggtcggggcAgttgtgaggactctggtttgtgttgtgtgtgaaaggccatgggatggggAGAGGGAGACGGACGTCTCAATAAgactaacgcttaAGATCGAGACCCGACGC chr22:46567683-Alternative-A;Patient-86 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative G caaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattct CTGGTTCGGAGT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAActggttcggagtAGATCGAGACCCGACGC chr22:46584143-Alternative-G;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative G caaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattct ATTGCCGCATAA CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAattgccgcataaAGATCGAGACCCGACGC chr22:46584143-Alternative-G;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative G caaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattct GTTAGACGTAAC CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAgttagacgtaacAGATCGAGACCCGACGC chr22:46584143-Alternative-G;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Variant T caaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattct CGTGGTTAGCAT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAcgtggttagcatAGATCGAGACCCGACGC chr22:46584143-Variant-T;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative G caaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattct ATCGGACGGCAA CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAatcggacggcaaAGATCGAGACCCGACGC chr22:46584143-Alternative-G;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Variant T caaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattct GATGCCGTAGGT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAgatgccgtaggtAGATCGAGACCCGACGC chr22:46584143-Variant-T;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative G caaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattct ACCGAATCCTAT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaGggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAaccgaatcctatAGATCGAGACCCGACGC chr22:46584143-Alternative-G;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Variant T caaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattct CGCTGTTCGCAT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAcgctgttcgcatAGATCGAGACCCGACGC chr22:46584143-Variant-T;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Variant T caaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattct CTGTGGATTGCG CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAActgtggattgcgAGATCGAGACCCGACGC chr22:46584143-Variant-T;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Reference C caaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattct GGTAGACCTAAC CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAggtagacctaacAGATCGAGACCCGACGC chr22:46584143-Reference-C;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative A caaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattct ACGACGGTCCTA CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAacgacggtcctaAGATCGAGACCCGACGC chr22:46584143-Alternative-A;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Reference C caaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattct AGTCAGCCGACT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAagtcagccgactAGATCGAGACCCGACGC chr22:46584143-Reference-C;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Variant T caaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattct CTCGCGCTTGTT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaTggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAActcgcgcttgttAGATCGAGACCCGACGC chr22:46584143-Variant-T;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative A caaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattct AGGTTCCATCGG CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAaggttccatcggAGATCGAGACCCGACGC chr22:46584143-Alternative-A;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Reference C caaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattct ATCTGATGACCA CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAatctgatgaccaAGATCGAGACCCGACGC chr22:46584143-Reference-C;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative A caaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattct ACACAGCAATCG CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAacacagcaatcgAGATCGAGACCCGACGC chr22:46584143-Alternative-A;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative A caaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattct CGGAAGCGATCA CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAcggaagcgatcaAGATCGAGACCCGACGC chr22:46584143-Alternative-A;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Reference C caaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattct CTGAGGACCATC CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAActgaggaccatcAGATCGAGACCCGACGC chr22:46584143-Reference-C;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Alternative A caaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattct AGCCGATACGCT CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaAggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAagccgatacgctAGATCGAGACCCGACGC chr22:46584143-Alternative-A;Patient-92 chr22:46584143-CT Inherited Patient-92 intronic PPARA 0.000478 0.00016 0.06 3.56 1.48 PPARA 37643 Reference C caaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattct ATCTGTGAATCG CGACGCGGTCTCTCTCTcaaataaaatggttgtagttataagccattaagtttcagagtttgttacaCggtaacatgtaactgatacaactcttggagccagttgttcagccattctAGAGGGAGACGGACGTCTCAATAAatctgtgaatcgAGATCGAGACCCGACGC chr22:46584143-Reference-C;Patient-92 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Variant C ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat AGATCCATACGG CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAagatccatacggAGATCGAGACCCGACGC chr22:47131755-Variant-C;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Variant C ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat ACGTAAGGCAAG CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAacgtaaggcaagAGATCGAGACCCGACGC chr22:47131755-Variant-C;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Variant C ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat CTCGCTTATGAT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAActcgcttatgatAGATCGAGACCCGACGC chr22:47131755-Variant-C;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative A ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GTTCGTCAGCCA CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgttcgtcagccaAGATCGAGACCCGACGC chr22:47131755-Alternative-A;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative A ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GCATCTAATCGA CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgcatctaatcgaAGATCGAGACCCGACGC chr22:47131755-Alternative-A;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative A ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat CGATTCGTCGAG CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAcgattcgtcgagAGATCGAGACCCGACGC chr22:47131755-Alternative-A;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative A ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat CACGTTCCACCA CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAcacgttccaccaAGATCGAGACCCGACGC chr22:47131755-Alternative-A;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative A ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat CTTATCGTATCG CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttAtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAActtatcgtatcgAGATCGAGACCCGACGC chr22:47131755-Alternative-A;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Variant C ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GGTACGAGAACT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAggtacgagaactAGATCGAGACCCGACGC chr22:47131755-Variant-C;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Reference T ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GATATCCAACAC CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgatatccaacacAGATCGAGACCCGACGC chr22:47131755-Reference-T;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Variant C ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GATAGCAGTAGT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttCtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgatagcagtagtAGATCGAGACCCGACGC chr22:47131755-Variant-C;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative G ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat ATTCTGGTAGGT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAattctggtaggtAGATCGAGACCCGACGC chr22:47131755-Alternative-G;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative G ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GCAGCATGATAA CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgcagcatgataaAGATCGAGACCCGACGC chr22:47131755-Alternative-G;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative G ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GCGAATTAGGAT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgcgaattaggatAGATCGAGACCCGACGC chr22:47131755-Alternative-G;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Reference T ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GTAACGTGTGAA CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgtaacgtgtgaaAGATCGAGACCCGACGC chr22:47131755-Reference-T;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Reference T ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat AGGACGTTAAGT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAaggacgttaagtAGATCGAGACCCGACGC chr22:47131755-Reference-T;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Reference T ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat ATATTCGCGGTT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAatattcgcggttAGATCGAGACCCGACGC chr22:47131755-Reference-T;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative G ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat GATGCTCATCGG CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAgatgctcatcggAGATCGAGACCCGACGC chr22:47131755-Alternative-G;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Alternative G ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat ACGACAGCTGAT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttGtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAacgacagctgatAGATCGAGACCCGACGC chr22:47131755-Alternative-G;Patient-91 chr22:47131755-TC Inherited Patient-91 intronic CERK 0.000414 9.9e-05 -0.2 0.74 -2.87 CERK 2396 Reference T ggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtat CGCAATTGCATT CGACGCGGTCTCTCTCTggccctactgacctcaagcatagaagaatcgaacctgggcctgattccttTtggggactgtaaagctatgagaaaaaaactagagacagtgtggctgtatAGAGGGAGACGGACGTCTCAATAAcgcaattgcattAGATCGAGACCCGACGC chr22:47131755-Reference-T;Patient-91 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative A ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct CGACGTGTGTTA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAcgacgtgtgttaAGATCGAGACCCGACGC chr22:51057012-Alternative-A;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Reference C ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct ATCCGTAAGCCA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAatccgtaagccaAGATCGAGACCCGACGC chr22:51057012-Reference-C;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative A ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GGATGACTAACC CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAggatgactaaccAGATCGAGACCCGACGC chr22:51057012-Alternative-A;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative A ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct CTACGAACACAT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAActacgaacacatAGATCGAGACCCGACGC chr22:51057012-Alternative-A;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Reference C ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct CACATTCGGTGG CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAcacattcggtggAGATCGAGACCCGACGC chr22:51057012-Reference-C;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Reference C ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct AATGGTTGCGTT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAaatggttgcgttAGATCGAGACCCGACGC chr22:51057012-Reference-C;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Variant T ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct CGGAACGGCATA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAcggaacggcataAGATCGAGACCCGACGC chr22:51057012-Variant-T;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Reference C ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct ACCAACGATGTT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAaccaacgatgttAGATCGAGACCCGACGC chr22:51057012-Reference-C;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative G ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GGCGCGTATAGT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAggcgcgtatagtAGATCGAGACCCGACGC chr22:51057012-Alternative-G;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative A ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GACGTACATCTA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgacgtacatctaAGATCGAGACCCGACGC chr22:51057012-Alternative-A;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Variant T ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct AGACGGTGCGAT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAagacggtgcgatAGATCGAGACCCGACGC chr22:51057012-Variant-T;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative A ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GTACTCTACGGC CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgAgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgtactctacggcAGATCGAGACCCGACGC chr22:51057012-Alternative-A;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Variant T ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GGCGAGTGAATT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAggcgagtgaattAGATCGAGACCCGACGC chr22:51057012-Variant-T;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Reference C ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct AGTCTAGATGAG CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgCgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAagtctagatgagAGATCGAGACCCGACGC chr22:51057012-Reference-C;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative G ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GCAGAAGCGCAA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgcagaagcgcaaAGATCGAGACCCGACGC chr22:51057012-Alternative-G;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative G ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GCCGCGTACTTA CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgccgcgtacttaAGATCGAGACCCGACGC chr22:51057012-Alternative-G;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Variant T ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GATCACACTAGT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgatcacactagtAGATCGAGACCCGACGC chr22:51057012-Variant-T;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative G ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct GATAGCGTACGG CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAgatagcgtacggAGATCGAGACCCGACGC chr22:51057012-Alternative-G;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Variant T ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct ACCGACTATGAT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgTgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAaccgactatgatAGATCGAGACCCGACGC chr22:51057012-Variant-T;Patient-5 chr22:51057012-CT DeNovo Patient-5 intergenic NA 0.000513 -0.17 0.85 0 SHANK3 56057 Alternative G ttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcct ACCGAGAAGAGT CGACGCGGTCTCTCTCTttttttgagacagagtctcactcggttgcccagactggggtgcagtggcgGgatctcggctcactgcaagctccgcctcccaggttcacgccattctcctAGAGGGAGACGGACGTCTCAATAAaccgagaagagtAGATCGAGACCCGACGC chr22:51057012-Alternative-G;Patient-5 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative A tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca CGACAACACTTA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAcgacaacacttaAGATCGAGACCCGACGC chr22:51078631-Alternative-A;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative A tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GTCGTAGGCCAA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgtcgtaggccaaAGATCGAGACCCGACGC chr22:51078631-Alternative-A;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative A tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca ACCGTTATACCA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAaccgttataccaAGATCGAGACCCGACGC chr22:51078631-Alternative-A;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Reference C tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca CTAGTTACGAAC CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAActagttacgaacAGATCGAGACCCGACGC chr22:51078631-Reference-C;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Reference C tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca CAGGAGCCGTAA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAcaggagccgtaaAGATCGAGACCCGACGC chr22:51078631-Reference-C;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Reference C tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca AATGTCGGTAAG CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAaatgtcggtaagAGATCGAGACCCGACGC chr22:51078631-Reference-C;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Variant T tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GCGGAAGTAAGG CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgcggaagtaaggAGATCGAGACCCGACGC chr22:51078631-Variant-T;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative A tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca ATACTAGCCGAT CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAatactagccgatAGATCGAGACCCGACGC chr22:51078631-Alternative-A;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Variant T tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca AGCAGTGTACTT CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAagcagtgtacttAGATCGAGACCCGACGC chr22:51078631-Variant-T;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative A tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca AGGCTTCTCAAT CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcAgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAaggcttctcaatAGATCGAGACCCGACGC chr22:51078631-Alternative-A;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Variant T tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca ATATTCTCGCGA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAatattctcgcgaAGATCGAGACCCGACGC chr22:51078631-Variant-T;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative G tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GGTCTTAGTAAC CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAggtcttagtaacAGATCGAGACCCGACGC chr22:51078631-Alternative-G;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative G tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca ACGGTCACTAAC CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAacggtcactaacAGATCGAGACCCGACGC chr22:51078631-Alternative-G;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Reference C tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GGAGATGCTAAT CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAggagatgctaatAGATCGAGACCCGACGC chr22:51078631-Reference-C;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Reference C tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GATGATCGGTAA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcCgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgatgatcggtaaAGATCGAGACCCGACGC chr22:51078631-Reference-C;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Variant T tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GATAAGAGAGCA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgataagagagcaAGATCGAGACCCGACGC chr22:51078631-Variant-T;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative G tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca ACTAGCGGCGAA CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAactagcggcgaaAGATCGAGACCCGACGC chr22:51078631-Alternative-G;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative G tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GACAAGATAGCG CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgacaagatagcgAGATCGAGACCCGACGC chr22:51078631-Alternative-G;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Variant T tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GATCGTGACGCT CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcTgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAgatcgtgacgctAGATCGAGACCCGACGC chr22:51078631-Variant-T;Patient-68 chr22:51078631-CT Inherited Patient-68 intergenic 6.4e-05 0.001025641 -0.04 2.11 0.15 SHANK3 34438 Alternative G tactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgca GGAGTATCCAGG CGACGCGGTCTCTCTCTtactttgagcccatgttctttctgtaacctcaagatggtatataagcttcGgaaccccattgggaggttggggtcatcactctggttctccctgtgtgcaAGAGGGAGACGGACGTCTCAATAAggagtatccaggAGATCGAGACCCGACGC chr22:51078631-Alternative-G;Patient-68 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative G gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg ATCGGTACACCG CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAatcggtacaccgAGATCGAGACCCGACGC chr22:51125203-Alternative-G;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Reference T gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CTACGGCTACGA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAActacggctacgaAGATCGAGACCCGACGC chr22:51125203-Reference-T;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative G gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GACTAACGGTCC CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgactaacggtccAGATCGAGACCCGACGC chr22:51125203-Alternative-G;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Variant A gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg AGGTTCGCGCTT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAaggttcgcgcttAGATCGAGACCCGACGC chr22:51125203-Variant-A;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative G gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg ACTCGCGTATGC CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAactcgcgtatgcAGATCGAGACCCGACGC chr22:51125203-Alternative-G;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative G gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CACTAGACGCAT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcactagacgcatAGATCGAGACCCGACGC chr22:51125203-Alternative-G;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Reference T gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GCCAATAGTGGT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgccaatagtggtAGATCGAGACCCGACGC chr22:51125203-Reference-T;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative G gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GTTAGCCGATCG CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcGgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgttagccgatcgAGATCGAGACCCGACGC chr22:51125203-Alternative-G;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Reference T gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GGTGACCGTCAT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAggtgaccgtcatAGATCGAGACCCGACGC chr22:51125203-Reference-T;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Variant A gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GAGGTAAGGATA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgaggtaaggataAGATCGAGACCCGACGC chr22:51125203-Variant-A;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Variant A gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GAGGTGACTATA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgaggtgactataAGATCGAGACCCGACGC chr22:51125203-Variant-A;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Reference T gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GAGATCGGCCTT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgagatcggccttAGATCGAGACCCGACGC chr22:51125203-Reference-T;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Reference T gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GCCGATGGCTAA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcTgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgccgatggctaaAGATCGAGACCCGACGC chr22:51125203-Reference-T;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative C gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CAGTTGCCTATA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcagttgcctataAGATCGAGACCCGACGC chr22:51125203-Alternative-C;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Variant A gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CGCGAGAATCAG CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcgcgagaatcagAGATCGAGACCCGACGC chr22:51125203-Variant-A;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Variant A gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CGAAGGTCGAAT CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcAgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcgaaggtcgaatAGATCGAGACCCGACGC chr22:51125203-Variant-A;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative C gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CGGTGGAGGTTA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcggtggaggttaAGATCGAGACCCGACGC chr22:51125203-Alternative-C;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative C gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg AGTACGGTTCAA CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAagtacggttcaaAGATCGAGACCCGACGC chr22:51125203-Alternative-C;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative C gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg CGGACGTGTAAG CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAcggacgtgtaagAGATCGAGACCCGACGC chr22:51125203-Alternative-C;Patient-60 chr22:51125203-TA DeNovo Patient-60 intronic SHANK3 NA 0.000792 NA NA NA SHANK3 12132 Alternative C gtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctgg GAGTCTCGACAC CGACGCGGTCTCTCTCTgtcccctctgggagagttgtagctgccggagtcccctctgggagagttgcCgctggccaggctgggaccgtcctgttgtagctgccggagtcccctctggAGAGGGAGACGGACGTCTCAATAAgagtctcgacacAGATCGAGACCCGACGC chr22:51125203-Alternative-C;Patient-60 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Variant C tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgag AACCGACCTAAT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAaaccgacctaatAGATCGAGACCCGACGC chr3:10058231-Variant-C;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative A tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgag AAGTCGACACCG CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAaagtcgacaccgAGATCGAGACCCGACGC chr3:10058231-Alternative-A;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative A tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgag CGGTGCGTCATT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcggtgcgtcattAGATCGAGACCCGACGC chr3:10058231-Alternative-A;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative G tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgag AATGGCTACGGC CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAaatggctacggcAGATCGAGACCCGACGC chr3:10058231-Alternative-G;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative A tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgag ACACGTCACGGT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAacacgtcacggtAGATCGAGACCCGACGC chr3:10058231-Alternative-A;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Reference T tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgag CGGAAGTATCAA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcggaagtatcaaAGATCGAGACCCGACGC chr3:10058231-Reference-T;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Reference T tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgag GAATGGATTGCA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAgaatggattgcaAGATCGAGACCCGACGC chr3:10058231-Reference-T;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Reference T tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgag GGATCGTCCTTC CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAggatcgtccttcAGATCGAGACCCGACGC chr3:10058231-Reference-T;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Reference T tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgag CTCGCACTCACA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAActcgcactcacaAGATCGAGACCCGACGC chr3:10058231-Reference-T;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative A tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgag ACGGTAGCATAA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAacggtagcataaAGATCGAGACCCGACGC chr3:10058231-Alternative-A;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Reference T tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgag ATAGGCACGCCA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagTactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAataggcacgccaAGATCGAGACCCGACGC chr3:10058231-Reference-T;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Variant C tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgag CGGAGATCAACT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcggagatcaactAGATCGAGACCCGACGC chr3:10058231-Variant-C;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Variant C tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgag AGGTTCAATAGG CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAaggttcaataggAGATCGAGACCCGACGC chr3:10058231-Variant-C;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Variant C tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgag CATTCTGGTTCA CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcattctggttcaAGATCGAGACCCGACGC chr3:10058231-Variant-C;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Variant C tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgag CATAACGGTACT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagCactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcataacggtactAGATCGAGACCCGACGC chr3:10058231-Variant-C;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative A tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgag CGCACTCGAATC CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagAactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAcgcactcgaatcAGATCGAGACCCGACGC chr3:10058231-Alternative-A;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative G tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgag AACCACGAACCG CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAaaccacgaaccgAGATCGAGACCCGACGC chr3:10058231-Alternative-G;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative G tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgag ATCCTACTTACG CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAatcctacttacgAGATCGAGACCCGACGC chr3:10058231-Alternative-G;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative G tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgag ATCCGCGGTATC CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAAatccgcggtatcAGATCGAGACCCGACGC chr3:10058231-Alternative-G;Patient-30 chr3:10058231-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA FANCD2 9881 Alternative G tggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgag CTGGTCGCCTAT CGACGCGGTCTCTCTCTtggcaagttaggatgggcattgacggggaaatgccttacagcttgagtagGactttttcacctaaccacttaaatggttattataaaacgggacactgagAGAGGGAGACGGACGTCTCAATAActggtcgcctatAGATCGAGACCCGACGC chr3:10058231-Alternative-G;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Reference C actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg ATAGGCGTGAAT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAataggcgtgaatAGATCGAGACCCGACGC chr3:10086953-Reference-C;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Reference C actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CACAACTCTGAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcacaactctgaaAGATCGAGACCCGACGC chr3:10086953-Reference-C;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Reference C actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CTTAATGTCGAG CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActtaatgtcgagAGATCGAGACCCGACGC chr3:10086953-Reference-C;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative A actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg AGCAGACGGCAT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAagcagacggcatAGATCGAGACCCGACGC chr3:10086953-Alternative-A;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative A actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CGGAACGTATAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcggaacgtataaAGATCGAGACCCGACGC chr3:10086953-Alternative-A;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative A actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GATTACTCGTCT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgattactcgtctAGATCGAGACCCGACGC chr3:10086953-Alternative-A;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative A actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GTGTTGGCTTAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgtgttggcttaaAGATCGAGACCCGACGC chr3:10086953-Alternative-A;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative A actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GATACAACGTGA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaAgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgatacaacgtgaAGATCGAGACCCGACGC chr3:10086953-Alternative-A;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Reference C actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CGATTCCGTGCT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcgattccgtgctAGATCGAGACCCGACGC chr3:10086953-Reference-C;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative G actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CTCTAAGTTCGT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActctaagttcgtAGATCGAGACCCGACGC chr3:10086953-Alternative-G;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Reference C actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GACGCGGATGAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaCgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgacgcggatgaaAGATCGAGACCCGACGC chr3:10086953-Reference-C;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Variant T actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GCAATGGTACGT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgcaatggtacgtAGATCGAGACCCGACGC chr3:10086953-Variant-T;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Variant T actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg AATACGGCGTAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAaatacggcgtaaAGATCGAGACCCGACGC chr3:10086953-Variant-T;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Variant T actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GTTAACGGACGG CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgttaacggacggAGATCGAGACCCGACGC chr3:10086953-Variant-T;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative G actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CGATGCTTCGCT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcgatgcttcgctAGATCGAGACCCGACGC chr3:10086953-Alternative-G;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative G actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg CGGCTAATCTAT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcggctaatctatAGATCGAGACCCGACGC chr3:10086953-Alternative-G;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative G actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg AGATGACGCATA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAagatgacgcataAGATCGAGACCCGACGC chr3:10086953-Alternative-G;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Variant T actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg ACATCTACACAG CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAacatctacacagAGATCGAGACCCGACGC chr3:10086953-Variant-T;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Variant T actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GCCGAACCTGAA CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaTgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgccgaacctgaaAGATCGAGACCCGACGC chr3:10086953-Variant-T;Patient-30 chr3:10086953-CT Inherited Patient-30 intronic FANCD2 6.4e-05 4.95e-05 NA NA NA FANCD2 18839 Alternative G actgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctg GCGGAGTTCTGT CGACGCGGTCTCTCTCTactgcactggcgtgatctcggctcactgcaagctccgcctcctgggttcaGgccattctcccgcttcagcctcccaagtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgcggagttctgtAGATCGAGACCCGACGC chr3:10086953-Alternative-G;Patient-30 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Variant G tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca AGGTTCGGCGTT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAaggttcggcgttAGATCGAGACCCGACGC chr3:10101518-Variant-G;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative T tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca CATAGCGTTAGG CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAcatagcgttaggAGATCGAGACCCGACGC chr3:10101518-Alternative-T;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative T tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca ACTCAATTGCCT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAactcaattgcctAGATCGAGACCCGACGC chr3:10101518-Alternative-T;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Variant G tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca ACTCCGTTAAGA CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAactccgttaagaAGATCGAGACCCGACGC chr3:10101518-Variant-G;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Variant G tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca ATACGGTTCGAT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAatacggttcgatAGATCGAGACCCGACGC chr3:10101518-Variant-G;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative C tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca CGCTCGTACAGT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAcgctcgtacagtAGATCGAGACCCGACGC chr3:10101518-Alternative-C;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Reference A tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca AGTATTCACGGT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAagtattcacggtAGATCGAGACCCGACGC chr3:10101518-Reference-A;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Reference A tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GGCCATCAATCA CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAggccatcaatcaAGATCGAGACCCGACGC chr3:10101518-Reference-A;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Reference A tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca CGATCAGGTTAT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAcgatcaggttatAGATCGAGACCCGACGC chr3:10101518-Reference-A;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Reference A tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GCGGCGTTAAGT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAgcggcgttaagtAGATCGAGACCCGACGC chr3:10101518-Reference-A;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative T tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca AGAATTGTGTCG CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAagaattgtgtcgAGATCGAGACCCGACGC chr3:10101518-Alternative-T;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative T tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca CGCAATCGTAAT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAcgcaatcgtaatAGATCGAGACCCGACGC chr3:10101518-Alternative-T;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative C tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca ATCGATACCTTC CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAatcgataccttcAGATCGAGACCCGACGC chr3:10101518-Alternative-C;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative C tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca AGGTTGCTGCCA CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAaggttgctgccaAGATCGAGACCCGACGC chr3:10101518-Alternative-C;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Variant G tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GATAAGTTCCGT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAgataagttccgtAGATCGAGACCCGACGC chr3:10101518-Variant-G;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative C tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GTCTACGGCCAA CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAgtctacggccaaAGATCGAGACCCGACGC chr3:10101518-Alternative-C;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Variant G tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca AGACCGAATACG CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcGcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAagaccgaatacgAGATCGAGACCCGACGC chr3:10101518-Variant-G;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Reference A tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca CTTAGGCTCTAT CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcAcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAActtaggctctatAGATCGAGACCCGACGC chr3:10101518-Reference-A;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative T tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GGTGACGAGCTA CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcTcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAggtgacgagctaAGATCGAGACCCGACGC chr3:10101518-Alternative-T;Patient-55 chr3:10101518-AG Inherited Patient-55 intronic FANCD2 0.000161 9.9e-05 0.19 5.62 0.43 FANCD2 33404 Alternative C tgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagaca GTGAACGTCTAC CGACGCGGTCTCTCTCTtgacagagcgagactccttctcaaagaaaaaaaaaaaaagtccccatttcCcagatgtaaaaattaaaacttggagagatgaattgacttgctaaagacaAGAGGGAGACGGACGTCTCAATAAgtgaacgtctacAGATCGAGACCCGACGC chr3:10101518-Alternative-C;Patient-55 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative T atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc AATGCCGCTATA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAaatgccgctataAGATCGAGACCCGACGC chr3:101354319-Alternative-T;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Variant A atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ATCGAGATCGAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAatcgagatcgaaAGATCGAGACCCGACGC chr3:101354319-Variant-A;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative C atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc CATGCGTGCGAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAcatgcgtgcgaaAGATCGAGACCCGACGC chr3:101354319-Alternative-C;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative C atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc CAACGATCACAT CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAcaacgatcacatAGATCGAGACCCGACGC chr3:101354319-Alternative-C;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative T atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GCAACGCTTGAC CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgcaacgcttgacAGATCGAGACCCGACGC chr3:101354319-Alternative-T;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Variant A atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc CGACGCTTATAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAcgacgcttataaAGATCGAGACCCGACGC chr3:101354319-Variant-A;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative C atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GTACTCGTGTAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgtactcgtgtaaAGATCGAGACCCGACGC chr3:101354319-Alternative-C;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative C atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GAGCACATAACA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgagcacataacaAGATCGAGACCCGACGC chr3:101354319-Alternative-C;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Reference G atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc AGGAGTATCGCG CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAaggagtatcgcgAGATCGAGACCCGACGC chr3:101354319-Reference-G;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Variant A atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GCACGGCCAATT CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgcacggccaattAGATCGAGACCCGACGC chr3:101354319-Variant-A;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Reference G atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GTAGTAGTCTGT CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgtagtagtctgtAGATCGAGACCCGACGC chr3:101354319-Reference-G;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Variant A atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ATCTCTCGACGG CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAatctctcgacggAGATCGAGACCCGACGC chr3:101354319-Variant-A;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative C atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GACAGTTGCCGA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccCtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgacagttgccgaAGATCGAGACCCGACGC chr3:101354319-Alternative-C;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Variant A atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ACCGGTCTATAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccAtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAaccggtctataaAGATCGAGACCCGACGC chr3:101354319-Variant-A;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Reference G atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ACTCCAATCGGC CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAactccaatcggcAGATCGAGACCCGACGC chr3:101354319-Reference-G;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative T atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ACAACACTGAGA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAacaacactgagaAGATCGAGACCCGACGC chr3:101354319-Alternative-T;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Reference G atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ACAGATTACGCT CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAacagattacgctAGATCGAGACCCGACGC chr3:101354319-Reference-G;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative T atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc ACGTCTGCCACT CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAacgtctgccactAGATCGAGACCCGACGC chr3:101354319-Alternative-T;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Reference G atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc AGCAGTGATCAA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccGtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAagcagtgatcaaAGATCGAGACCCGACGC chr3:101354319-Reference-G;Patient-100 chr3:101354319-GA DeNovo Patient-100 intergenic NA 0.000948 -0.09 1.47 0 RPL24 51243 Alternative T atttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcacc GTTAGCGAGCGA CGACGCGGTCTCTCTCTatttttaccagtatctccttgcaggcatcaagggagctgctcgaaaacccTtgaatctgtctaataaaacttaagttgtccaggggcttgatgagtcaccAGAGGGAGACGGACGTCTCAATAAgttagcgagcgaAGATCGAGACCCGACGC chr3:101354319-Alternative-T;Patient-100 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative A acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GACCATACGTAC CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAgaccatacgtacAGATCGAGACCCGACGC chr3:101438134-Alternative-A;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative A acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GTCATTAGTCGA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAgtcattagtcgaAGATCGAGACCCGACGC chr3:101438134-Alternative-A;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative A acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac AGCGTAACACGT CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAagcgtaacacgtAGATCGAGACCCGACGC chr3:101438134-Alternative-A;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative C acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac AGTAGAAGAGCA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAagtagaagagcaAGATCGAGACCCGACGC chr3:101438134-Alternative-C;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Reference T acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac CGCTAATCAAGA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAcgctaatcaagaAGATCGAGACCCGACGC chr3:101438134-Reference-T;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative C acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GGTCACGGTGAA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAggtcacggtgaaAGATCGAGACCCGACGC chr3:101438134-Alternative-C;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative C acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac CGTTACTGGTAA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAcgttactggtaaAGATCGAGACCCGACGC chr3:101438134-Alternative-C;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative A acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac CTATGACGGTCA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAActatgacggtcaAGATCGAGACCCGACGC chr3:101438134-Alternative-A;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative C acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac ACACCACCGATA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAacaccaccgataAGATCGAGACCCGACGC chr3:101438134-Alternative-C;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative A acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac AGGAACGCTCGA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcAcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAaggaacgctcgaAGATCGAGACCCGACGC chr3:101438134-Alternative-A;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Reference T acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GGCTCCAACGAA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAggctccaacgaaAGATCGAGACCCGACGC chr3:101438134-Reference-T;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Alternative C acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GTAGCGATGCGA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcCcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAgtagcgatgcgaAGATCGAGACCCGACGC chr3:101438134-Alternative-C;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Reference T acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GACAACGACGAC CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAgacaacgacgacAGATCGAGACCCGACGC chr3:101438134-Reference-T;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Reference T acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac AGATTGAGGCCG CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAagattgaggccgAGATCGAGACCCGACGC chr3:101438134-Reference-T;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Reference T acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac CTTGGTTCATAC CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcTcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAActtggttcatacAGATCGAGACCCGACGC chr3:101438134-Reference-T;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Variant G acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac ACTTCCGGCGAA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAacttccggcgaaAGATCGAGACCCGACGC chr3:101438134-Variant-G;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Variant G acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac ACGCACCGACTA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAacgcaccgactaAGATCGAGACCCGACGC chr3:101438134-Variant-G;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Variant G acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac AACGATGCGATA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAaacgatgcgataAGATCGAGACCCGACGC chr3:101438134-Variant-G;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Variant G acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac GTTGATTGCATC CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAgttgattgcatcAGATCGAGACCCGACGC chr3:101438134-Variant-G;Patient-32 chr3:101438134-TG DeNovo Patient-32 intergenic NA 0.000512821 -0.26 0.48 -0.94 RPL24 32570 Variant G acccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattac ATAACGAACGCA CGACGCGGTCTCTCTCTacccaggctggagtgcagtgacgggatctcagcttactgcaacctgcctcGcgggttcaagtgattctcctgcttcagcctcccgagtagctgggattacAGAGGGAGACGGACGTCTCAATAAataacgaacgcaAGATCGAGACCCGACGC chr3:101438134-Variant-G;Patient-32 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative G ctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GCATCTTATTGC CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgcatcttattgcAGATCGAGACCCGACGC chr3:101481853-Alternative-G;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative G ctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatga ACTGCTGCGACT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAactgctgcgactAGATCGAGACCCGACGC chr3:101481853-Alternative-G;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Reference T ctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GTCGATTCTGAA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgtcgattctgaaAGATCGAGACCCGACGC chr3:101481853-Reference-T;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative A ctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatga ACGTCTAACCGG CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAacgtctaaccggAGATCGAGACCCGACGC chr3:101481853-Alternative-A;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative A ctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GCGCCTAGTTCT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgcgcctagttctAGATCGAGACCCGACGC chr3:101481853-Alternative-A;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative A ctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CACGTCCGTTGT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcacgtccgttgtAGATCGAGACCCGACGC chr3:101481853-Alternative-A;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative G ctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CGGAGCTCGATA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcggagctcgataAGATCGAGACCCGACGC chr3:101481853-Alternative-G;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Variant C ctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CGAAGACTGCGT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcgaagactgcgtAGATCGAGACCCGACGC chr3:101481853-Variant-C;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Variant C ctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CGTAGGCGACAT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcgtaggcgacatAGATCGAGACCCGACGC chr3:101481853-Variant-C;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Reference T ctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatga AATCGCGCATTA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAaatcgcgcattaAGATCGAGACCCGACGC chr3:101481853-Reference-T;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative A ctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GGATAACGCAGA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAggataacgcagaAGATCGAGACCCGACGC chr3:101481853-Alternative-A;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative A ctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CGCATAACGATA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttAaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcgcataacgataAGATCGAGACCCGACGC chr3:101481853-Alternative-A;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Reference T ctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatga AGATTGGAGCTT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAagattggagcttAGATCGAGACCCGACGC chr3:101481853-Reference-T;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Variant C ctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GTACAGACAAGT CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgtacagacaagtAGATCGAGACCCGACGC chr3:101481853-Variant-C;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Reference T ctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatga CAGCGTATAGAA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAcagcgtatagaaAGATCGAGACCCGACGC chr3:101481853-Reference-T;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Reference T ctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GGTTGCACGTCA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttTaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAggttgcacgtcaAGATCGAGACCCGACGC chr3:101481853-Reference-T;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Variant C ctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GGATCTGTTCAA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAggatctgttcaaAGATCGAGACCCGACGC chr3:101481853-Variant-C;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Variant C ctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GTTCCAAGCAAG CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttCaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgttccaagcaagAGATCGAGACCCGACGC chr3:101481853-Variant-C;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative G ctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GTACGAGCATAA CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgtacgagcataaAGATCGAGACCCGACGC chr3:101481853-Alternative-G;Patient-77 chr3:101481853-TC DeNovo Patient-77 intronic CEP97 NA 0.000198 NA NA NA NXPE3 16175 Alternative G ctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatga GAGGTTGCTGAG CGACGCGGTCTCTCTCTctgtataggagagtatttgaatcctataatagcacactttagggacagttGaggcagttggttttactagcattgtatcacatcaaatacttcttgatgaAGAGGGAGACGGACGTCTCAATAAgaggttgctgagAGATCGAGACCCGACGC chr3:101481853-Alternative-G;Patient-77 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Variant G cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GTAACAGTTCCA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAgtaacagttccaAGATCGAGACCCGACGC chr3:10363410-Variant-G;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative C cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcac ATAGCCGATAGA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAatagccgatagaAGATCGAGACCCGACGC chr3:10363410-Alternative-C;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Reference A cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcac AAGACTAGTGGT CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAaagactagtggtAGATCGAGACCCGACGC chr3:10363410-Reference-A;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Variant G cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CACGCATAAGTT CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAcacgcataagttAGATCGAGACCCGACGC chr3:10363410-Variant-G;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative C cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GGAGTCGCTTGT CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAggagtcgcttgtAGATCGAGACCCGACGC chr3:10363410-Alternative-C;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Reference A cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcac AAGACGATCACA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAaagacgatcacaAGATCGAGACCCGACGC chr3:10363410-Reference-A;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative C cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GTGACGCCAATC CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAgtgacgccaatcAGATCGAGACCCGACGC chr3:10363410-Alternative-C;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative C cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GCGGAACTCACA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAgcggaactcacaAGATCGAGACCCGACGC chr3:10363410-Alternative-C;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Variant G cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GAAGATATCGAG CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAgaagatatcgagAGATCGAGACCCGACGC chr3:10363410-Variant-G;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Variant G cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CATTGTGCAACA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAcattgtgcaacaAGATCGAGACCCGACGC chr3:10363410-Variant-G;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative C cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CATCTCCGGAAC CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctCtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAcatctccggaacAGATCGAGACCCGACGC chr3:10363410-Alternative-C;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative T cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcac AACCAACGCCGA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAaaccaacgccgaAGATCGAGACCCGACGC chr3:10363410-Alternative-T;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative T cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CTTAGGCTTCGG CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAActtaggcttcggAGATCGAGACCCGACGC chr3:10363410-Alternative-T;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Variant G cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcac ATCGACTAGTGG CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctGtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAatcgactagtggAGATCGAGACCCGACGC chr3:10363410-Variant-G;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative T cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CGCGGACTACTT CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAcgcggactacttAGATCGAGACCCGACGC chr3:10363410-Alternative-T;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative T cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcac ACCGGTCCTACA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAaccggtcctacaAGATCGAGACCCGACGC chr3:10363410-Alternative-T;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Alternative T cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcac GATGCGTCTGAG CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctTtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAgatgcgtctgagAGATCGAGACCCGACGC chr3:10363410-Alternative-T;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Reference A cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcac ACGGCAGCAACA CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAAacggcagcaacaAGATCGAGACCCGACGC chr3:10363410-Reference-A;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Reference A cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CTAGTTGACGAT CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAActagttgacgatAGATCGAGACCCGACGC chr3:10363410-Reference-A;Patient-91 chr3:10363410-AG Inherited Patient-91 intergenic 7e-05 0.000513 -0.16 0.95 -1.23 SEC13 537 Reference A cttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcac CTTAGACCTGCG CGACGCGGTCTCTCTCTcttgtaaaaaagaaaaaaatctatctatctatctatctatctatctatctAtctatctatctatctatcatctatctatctgcagcttcacccgcctcacAGAGGGAGACGGACGTCTCAATAActtagacctgcgAGATCGAGACCCGACGC chr3:10363410-Reference-A;Patient-91 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Reference G gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GGCCAAGACCAT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAggccaagaccatAGATCGAGACCCGACGC chr3:10365203-Reference-G;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Reference G gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag CGTAACGACAAC CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAcgtaacgacaacAGATCGAGACCCGACGC chr3:10365203-Reference-G;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Reference G gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GTATCGGATAGT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAgtatcggatagtAGATCGAGACCCGACGC chr3:10365203-Reference-G;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Reference G gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag ACGTCAGATCCA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAacgtcagatccaAGATCGAGACCCGACGC chr3:10365203-Reference-G;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Variant A gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GTGAATAGCACA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAgtgaatagcacaAGATCGAGACCCGACGC chr3:10365203-Variant-A;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative T gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag CGCAATAGCGCA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAcgcaatagcgcaAGATCGAGACCCGACGC chr3:10365203-Alternative-T;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Variant A gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GAGTATTCGTGT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAgagtattcgtgtAGATCGAGACCCGACGC chr3:10365203-Variant-A;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Variant A gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag CGGCAATCATCG CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAcggcaatcatcgAGATCGAGACCCGACGC chr3:10365203-Variant-A;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Reference G gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag ACTAGATCGCGT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgGtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAactagatcgcgtAGATCGAGACCCGACGC chr3:10365203-Reference-G;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative T gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag ACGTCGTATCTA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAacgtcgtatctaAGATCGAGACCCGACGC chr3:10365203-Alternative-T;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative T gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag ACTACGAACGAT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAactacgaacgatAGATCGAGACCCGACGC chr3:10365203-Alternative-T;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Variant A gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag CAGTAGGATGAT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAcagtaggatgatAGATCGAGACCCGACGC chr3:10365203-Variant-A;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Variant A gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GGCTATTAACCT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgAtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAggctattaacctAGATCGAGACCCGACGC chr3:10365203-Variant-A;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative T gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag ATTCGCACAACA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAattcgcacaacaAGATCGAGACCCGACGC chr3:10365203-Alternative-T;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative T gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag AGCGTGTAGCTA CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgTtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAagcgtgtagctaAGATCGAGACCCGACGC chr3:10365203-Alternative-T;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative C gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GGCTGTATTCGG CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAggctgtattcggAGATCGAGACCCGACGC chr3:10365203-Alternative-C;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative C gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag GACGACGAATCG CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAgacgacgaatcgAGATCGAGACCCGACGC chr3:10365203-Alternative-C;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative C gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag AAGGAGATATCG CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAaaggagatatcgAGATCGAGACCCGACGC chr3:10365203-Alternative-C;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative C gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag AACTCGCTCGCT CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAaactcgctcgctAGATCGAGACCCGACGC chr3:10365203-Alternative-C;Patient-30 chr3:10365203-GA Inherited Patient-30 intergenic 0.000542 0.000512821 NA NA NA SEC13 2330 Alternative C gtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaag CACGTCGTTGTC CGACGCGGTCTCTCTCTgtgtgtgtgtaactctcaacccttgggccaaccttagggattacttgttgCtctgggcatattctctttctctgccaatgttcagcagaggtttgtgaagAGAGGGAGACGGACGTCTCAATAAcacgtcgttgtcAGATCGAGACCCGACGC chr3:10365203-Alternative-C;Patient-30 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Variant T ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CTAATTGGTCGA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAActaattggtcgaAGATCGAGACCCGACGC chr3:11069729-Variant-T;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Variant T ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct AATCTTGCGGAT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAaatcttgcggatAGATCGAGACCCGACGC chr3:11069729-Variant-T;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative A ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GTGCTTCAGGCA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAgtgcttcaggcaAGATCGAGACCCGACGC chr3:11069729-Alternative-A;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative G ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GGTGGATAGTAT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAggtggatagtatAGATCGAGACCCGACGC chr3:11069729-Alternative-G;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative G ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GTGAATCGCATT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAgtgaatcgcattAGATCGAGACCCGACGC chr3:11069729-Alternative-G;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative A ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct AATGTAACGGAG CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAaatgtaacggagAGATCGAGACCCGACGC chr3:11069729-Alternative-A;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative A ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct AGCAGTAACAGG CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAagcagtaacaggAGATCGAGACCCGACGC chr3:11069729-Alternative-A;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative G ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct AGTAACGTACGA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAagtaacgtacgaAGATCGAGACCCGACGC chr3:11069729-Alternative-G;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Variant T ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CTCGGAGTGGTT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAActcggagtggttAGATCGAGACCCGACGC chr3:11069729-Variant-T;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Variant T ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CTTGCTCCAATA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAActtgctccaataAGATCGAGACCCGACGC chr3:11069729-Variant-T;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative G ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GCCACTAGCGTT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAgccactagcgttAGATCGAGACCCGACGC chr3:11069729-Alternative-G;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative G ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct AGATTATTCCGG CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaGggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAagattattccggAGATCGAGACCCGACGC chr3:11069729-Alternative-G;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative A ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct ACCTAAGTTGAG CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAacctaagttgagAGATCGAGACCCGACGC chr3:11069729-Alternative-A;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Reference C ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CGTAGCAGGTTC CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAcgtagcaggttcAGATCGAGACCCGACGC chr3:11069729-Reference-C;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Variant T ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CTATAAGCGTGT CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaTggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAActataagcgtgtAGATCGAGACCCGACGC chr3:11069729-Variant-T;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Alternative A ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct ACTACGCGGCTA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaAggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAactacgcggctaAGATCGAGACCCGACGC chr3:11069729-Alternative-A;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Reference C ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GCGGTAAGGCTA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAgcggtaaggctaAGATCGAGACCCGACGC chr3:11069729-Reference-C;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Reference C ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct GAATCGTAACGA CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAgaatcgtaacgaAGATCGAGACCCGACGC chr3:11069729-Reference-C;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Reference C ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CGCGACTTGAAC CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAAcgcgacttgaacAGATCGAGACCCGACGC chr3:11069729-Reference-C;Patient-58 chr3:11069729-CT Inherited Patient-58 intronic SLC6A1 0.000351 0.000247 -0.13 1.17 0.51 SLC6A1 35308 Reference C ggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctct CTTACACCGTCG CGACGCGGTCTCTCTCTggaacccactgtatgcagggcagaggcccctgaggctcatggaggccacaCggctggtcccttgaagaagtgggctggttccgtgaaaggagcattctctAGAGGGAGACGGACGTCTCAATAActtacaccgtcgAGATCGAGACCCGACGC chr3:11069729-Reference-C;Patient-58 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Reference A ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GCGACCAACGAA CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgcgaccaacgaaAGATCGAGACCCGACGC chr3:113000476-Reference-A;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Reference A ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CTAACGTACAGT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAActaacgtacagtAGATCGAGACCCGACGC chr3:113000476-Reference-A;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Reference A ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CTTACGCTGTTA CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAActtacgctgttaAGATCGAGACCCGACGC chr3:113000476-Reference-A;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative C ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GGCCGTATTCGT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAggccgtattcgtAGATCGAGACCCGACGC chr3:113000476-Alternative-C;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative C ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GTCAAGCAACAT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgtcaagcaacatAGATCGAGACCCGACGC chr3:113000476-Alternative-C;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative C ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CGTCGCGAACTT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAcgtcgcgaacttAGATCGAGACCCGACGC chr3:113000476-Alternative-C;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative C ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcag AATGGTTCGTCT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAaatggttcgtctAGATCGAGACCCGACGC chr3:113000476-Alternative-C;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative C ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GATAACGGTGAT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacCtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgataacggtgatAGATCGAGACCCGACGC chr3:113000476-Alternative-C;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Reference A ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcag ACTATCGCACTT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAactatcgcacttAGATCGAGACCCGACGC chr3:113000476-Reference-A;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative T ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GTTCAATGTGCA CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgttcaatgtgcaAGATCGAGACCCGACGC chr3:113000476-Alternative-T;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative T ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GTTATACCGGTT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgttataccggttAGATCGAGACCCGACGC chr3:113000476-Alternative-T;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Reference A ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcag AGCAGGTGTACG CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacAtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAagcaggtgtacgAGATCGAGACCCGACGC chr3:113000476-Reference-A;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Variant G ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CGCAACACGTTC CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAcgcaacacgttcAGATCGAGACCCGACGC chr3:113000476-Variant-G;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative T ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GCGATCGCGAAT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgcgatcgcgaatAGATCGAGACCCGACGC chr3:113000476-Alternative-T;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Variant G ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GGTTACCGACAT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAggttaccgacatAGATCGAGACCCGACGC chr3:113000476-Variant-G;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative T ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcag AGGTGAGTGGAG CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAaggtgagtggagAGATCGAGACCCGACGC chr3:113000476-Alternative-T;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Alternative T ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GACTGACTAACG CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacTtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgactgactaacgAGATCGAGACCCGACGC chr3:113000476-Alternative-T;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Variant G ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CGTTACTTACAC CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAcgttacttacacAGATCGAGACCCGACGC chr3:113000476-Variant-G;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Variant G ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcag CTCATGCGTCCA CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAActcatgcgtccaAGATCGAGACCCGACGC chr3:113000476-Variant-G;Patient-85 chr3:113000476-AG DeNovo Patient-85 intronic BOC NA 4.95e-05 0.07 3.78 -3.2 BOC 69100 Variant G ccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcag GACGCGAACGTT CGACGCGGTCTCTCTCTccaggattgtcttaactacaagaccagcccctttctgttgcacttaaaacGtgttaaacatagtcacataataacttgttaatatttgcacattggtcagAGAGGGAGACGGACGTCTCAATAAgacgcgaacgttAGATCGAGACCCGACGC chr3:113000476-Variant-G;Patient-85 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative A gtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaac CGTCTGATTCTT CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAcgtctgattcttAGATCGAGACCCGACGC chr3:113833267-Alternative-A;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative A gtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGAGATGTGGAG CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggagatgtggagAGATCGAGACCCGACGC chr3:113833267-Alternative-A;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative A gtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGTAGAACGTGC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggtagaacgtgcAGATCGAGACCCGACGC chr3:113833267-Alternative-A;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative A gtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaac CATGCTGTGGAC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAcatgctgtggacAGATCGAGACCCGACGC chr3:113833267-Alternative-A;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative T gtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaac GTCATAATGACC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgtcataatgaccAGATCGAGACCCGACGC chr3:113833267-Alternative-T;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Reference G gtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGAACTTAACAG CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggaacttaacagAGATCGAGACCCGACGC chr3:113833267-Reference-G;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative T gtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaac GTTAGCGCATGC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgttagcgcatgcAGATCGAGACCCGACGC chr3:113833267-Alternative-T;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Variant C gtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaac CTAACCTACGAA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAActaacctacgaaAGATCGAGACCCGACGC chr3:113833267-Variant-C;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative T gtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaac GATCAACTGAAC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgatcaactgaacAGATCGAGACCCGACGC chr3:113833267-Alternative-T;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative A gtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaac CGAACCTGTCGA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgAatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAcgaacctgtcgaAGATCGAGACCCGACGC chr3:113833267-Alternative-A;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Variant C gtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaac ACTTCGCATCTT CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAacttcgcatcttAGATCGAGACCCGACGC chr3:113833267-Variant-C;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative T gtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaac GTTGGCAATATC CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgttggcaatatcAGATCGAGACCCGACGC chr3:113833267-Alternative-T;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Alternative T gtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGTATCGCTTAA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgTatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggtatcgcttaaAGATCGAGACCCGACGC chr3:113833267-Alternative-T;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Reference G gtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGTCTTCTAGAA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggtcttctagaaAGATCGAGACCCGACGC chr3:113833267-Reference-G;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Variant C gtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaac ACCACGGATCGT CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAaccacggatcgtAGATCGAGACCCGACGC chr3:113833267-Variant-C;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Reference G gtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaac GAATTGCTCGGT CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgaattgctcggtAGATCGAGACCCGACGC chr3:113833267-Reference-G;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Variant C gtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaac GGCTTGGTACGT CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAggcttggtacgtAGATCGAGACCCGACGC chr3:113833267-Variant-C;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Reference G gtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaac CAGTTGTGATCA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAcagttgtgatcaAGATCGAGACCCGACGC chr3:113833267-Reference-G;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Variant C gtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaac CAACACCTTAAG CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgCatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAcaacaccttaagAGATCGAGACCCGACGC chr3:113833267-Variant-C;Patient-99 chr3:113833267-GC DeNovo Patient-99 intergenic 0.000382 0.001538462 -0.08 1.6 0.56 DRD3 64631 Reference G gtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaac GAGCTACGATAA CGACGCGGTCTCTCTCTgtttacatttactgccttgcctcatgactatacagattctcccatctgtgGatataatactgtccaaaggaagctggaccacatggacattttgcacaacAGAGGGAGACGGACGTCTCAATAAgagctacgataaAGATCGAGACCCGACGC chr3:113833267-Reference-G;Patient-99 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative C tatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGTTGTAGTAGG CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagttgtagtaggAGATCGAGACCCGACGC chr3:113909332-Alternative-C;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative C tatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GGTACTAATTGC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAggtactaattgcAGATCGAGACCCGACGC chr3:113909332-Alternative-C;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative C tatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa CACGGCTAACGA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAcacggctaacgaAGATCGAGACCCGACGC chr3:113909332-Alternative-C;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative C tatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GGTTAGCATACT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAggttagcatactAGATCGAGACCCGACGC chr3:113909332-Alternative-C;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Reference T tatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa CGTTGGATCGAC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAcgttggatcgacAGATCGAGACCCGACGC chr3:113909332-Reference-T;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative G tatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGTCGACGGTCT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagtcgacggtctAGATCGAGACCCGACGC chr3:113909332-Alternative-G;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Variant A tatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGATAGCTGTCA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagatagctgtcaAGATCGAGACCCGACGC chr3:113909332-Variant-A;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Variant A tatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGCCGTGAATCG CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagccgtgaatcgAGATCGAGACCCGACGC chr3:113909332-Variant-A;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Variant A tatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa CGCAACTAGTAC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAcgcaactagtacAGATCGAGACCCGACGC chr3:113909332-Variant-A;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Reference T tatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa CATTACGCACGA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAcattacgcacgaAGATCGAGACCCGACGC chr3:113909332-Reference-T;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Reference T tatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa ACGGTCGGTACT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAacggtcggtactAGATCGAGACCCGACGC chr3:113909332-Reference-T;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative C tatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa CGAACGCACTTA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttCtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAcgaacgcacttaAGATCGAGACCCGACGC chr3:113909332-Alternative-C;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Reference T tatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GCCGATCCTCAA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAgccgatcctcaaAGATCGAGACCCGACGC chr3:113909332-Reference-T;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Reference T tatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GCAGGCGTACTA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttTtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAgcaggcgtactaAGATCGAGACCCGACGC chr3:113909332-Reference-T;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Variant A tatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GCATAAGACGAT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAgcataagacgatAGATCGAGACCCGACGC chr3:113909332-Variant-A;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Variant A tatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa ACTACCGGATTA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttAtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAactaccggattaAGATCGAGACCCGACGC chr3:113909332-Variant-A;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative G tatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGCCAAGACTAA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagccaagactaaAGATCGAGACCCGACGC chr3:113909332-Alternative-G;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative G tatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AACGCACTGCGA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAaacgcactgcgaAGATCGAGACCCGACGC chr3:113909332-Alternative-G;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative G tatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa GGCTAATTGACA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAggctaattgacaAGATCGAGACCCGACGC chr3:113909332-Alternative-G;Patient-55 chr3:113909332-TA DeNovo Patient-55 intergenic NA 0.000512821 -0.11 1.3 0.13 DRD3 11432 Alternative G tatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaa AGTTGGCCTCGT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatatattttttttttttttttttttttGtttttttttttttttttacagagcaaaccaataaacagaaaatgggaaaAGAGGGAGACGGACGTCTCAATAAagttggcctcgtAGATCGAGACCCGACGC chr3:113909332-Alternative-G;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative C tatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GTCCGCGAATCA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgtccgcgaatcaAGATCGAGACCCGACGC chr3:113909334-Alternative-C;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative C tatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GTCGCTTGACCT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgtcgcttgacctAGATCGAGACCCGACGC chr3:113909334-Alternative-C;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Reference T tatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca ACGCGAAGGTTC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAacgcgaaggttcAGATCGAGACCCGACGC chr3:113909334-Reference-T;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative G tatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GGTACAAGCCTT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAggtacaagccttAGATCGAGACCCGACGC chr3:113909334-Alternative-G;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative C tatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca AGTAGATCAGCA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAagtagatcagcaAGATCGAGACCCGACGC chr3:113909334-Alternative-C;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Reference T tatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca CACACGTTGCGA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAcacacgttgcgaAGATCGAGACCCGACGC chr3:113909334-Reference-T;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Variant A tatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca ATTGATGGTCGT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAattgatggtcgtAGATCGAGACCCGACGC chr3:113909334-Variant-A;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative G tatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GGACTCGACATA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAggactcgacataAGATCGAGACCCGACGC chr3:113909334-Alternative-G;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Variant A tatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca CGCTGGTCATCA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAcgctggtcatcaAGATCGAGACCCGACGC chr3:113909334-Variant-A;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Variant A tatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca CGTCCTGAAGAT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAcgtcctgaagatAGATCGAGACCCGACGC chr3:113909334-Variant-A;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Variant A tatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca AAGTGTCGCATC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAaagtgtcgcatcAGATCGAGACCCGACGC chr3:113909334-Variant-A;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative G tatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GACTGTATCGCG CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgactgtatcgcgAGATCGAGACCCGACGC chr3:113909334-Alternative-G;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative C tatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca AGTCTATGCTGA CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAagtctatgctgaAGATCGAGACCCGACGC chr3:113909334-Alternative-C;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Variant A tatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca CGAATCGGAGAT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttAtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAcgaatcggagatAGATCGAGACCCGACGC chr3:113909334-Variant-A;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative C tatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca CTGGTAACTTGT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttCtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAActggtaacttgtAGATCGAGACCCGACGC chr3:113909334-Alternative-C;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Reference T tatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GATTCCGAACCT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgattccgaacctAGATCGAGACCCGACGC chr3:113909334-Reference-T;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Reference T tatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GGACTCACGTAT CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAggactcacgtatAGATCGAGACCCGACGC chr3:113909334-Reference-T;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative G tatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca AGTAACCAACGC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAagtaaccaacgcAGATCGAGACCCGACGC chr3:113909334-Alternative-G;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Reference T tatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GTCTATTCTGAC CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttTtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgtctattctgacAGATCGAGACCCGACGC chr3:113909334-Reference-T;Patient-55 chr3:113909334-TA DeNovo Patient-55 intergenic NA 0.000513 -0.15 1.01 0 DRD3 11434 Alternative G tatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaaca GCGTTATCGTGG CGACGCGGTCTCTCTCTtatatatatatatatatatatatatattttttttttttttttttttttttGtttttttttttttttacagagcaaaccaataaacagaaaatgggaaacaAGAGGGAGACGGACGTCTCAATAAgcgttatcgtggAGATCGAGACCCGACGC chr3:113909334-Alternative-G;Patient-55 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Variant G tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacata GCCACTAATGAT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgccactaatgatAGATCGAGACCCGACGC chr3:113979494-Variant-G;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Variant G tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacata CTCAACGAGCGT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAActcaacgagcgtAGATCGAGACCCGACGC chr3:113979494-Variant-G;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Variant G tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacata GTCATCGCACAG CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgtcatcgcacagAGATCGAGACCCGACGC chr3:113979494-Variant-G;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Variant G tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacata GGTGTCTCGAGT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAggtgtctcgagtAGATCGAGACCCGACGC chr3:113979494-Variant-G;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative T tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacata AGTAGTGTAACG CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAagtagtgtaacgAGATCGAGACCCGACGC chr3:113979494-Alternative-T;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative T tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacata GTATCAAGCGGC CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgtatcaagcggcAGATCGAGACCCGACGC chr3:113979494-Alternative-T;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative T tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacata GTTAGCGACGCT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgttagcgacgctAGATCGAGACCCGACGC chr3:113979494-Alternative-T;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative C tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacata ACTCACGACATT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAactcacgacattAGATCGAGACCCGACGC chr3:113979494-Alternative-C;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Reference A tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacata AGTTCGCTCTAT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAagttcgctctatAGATCGAGACCCGACGC chr3:113979494-Reference-A;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative T tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacata GTGCGATACTAT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgtgcgatactatAGATCGAGACCCGACGC chr3:113979494-Alternative-T;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative T tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacata CTGTTCCTAGAT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaTttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAActgttcctagatAGATCGAGACCCGACGC chr3:113979494-Alternative-T;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Reference A tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacata AGAATGCAATCG CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAagaatgcaatcgAGATCGAGACCCGACGC chr3:113979494-Reference-A;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative C tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacata ACGGTCTAACCA CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAacggtctaaccaAGATCGAGACCCGACGC chr3:113979494-Alternative-C;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Variant G tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacata CGATGACCATGA CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaGttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAcgatgaccatgaAGATCGAGACCCGACGC chr3:113979494-Variant-G;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Reference A tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacata CTTACAAGTAGG CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAActtacaagtaggAGATCGAGACCCGACGC chr3:113979494-Reference-A;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Reference A tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacata CTCACGGCCATT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAActcacggccattAGATCGAGACCCGACGC chr3:113979494-Reference-A;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative C tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacata ATCGCATGCCAT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAatcgcatgccatAGATCGAGACCCGACGC chr3:113979494-Alternative-C;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Reference A tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacata CTGCATATTCGT CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaAttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAActgcatattcgtAGATCGAGACCCGACGC chr3:113979494-Reference-A;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative C tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacata GCAGCAACTATC CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgcagcaactatcAGATCGAGACCCGACGC chr3:113979494-Alternative-C;Patient-59 chr3:113979494-AG DeNovo Patient-59 intergenic NA 0.000513 -0.1 1.38 0 DRD3 81594 Alternative C tctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacata GTAATTCCATGG CGACGCGGTCTCTCTCTtctgtggatgacaaaaagttttagttaggacagccactattaaagccacaCttgactaggaaattttggttccttctgtggcatacaacaattttacataAGAGGGAGACGGACGTCTCAATAAgtaattccatggAGATCGAGACCCGACGC chr3:113979494-Alternative-C;Patient-59 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative T gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac ATACCGGTAAGA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAataccggtaagaAGATCGAGACCCGACGC chr3:119008956-Alternative-T;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative T gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CAATTGACGTGT CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAcaattgacgtgtAGATCGAGACCCGACGC chr3:119008956-Alternative-T;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative T gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CGGATGTCTGAG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAcggatgtctgagAGATCGAGACCCGACGC chr3:119008956-Alternative-T;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Variant A gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CAGCAGCGTTCA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAcagcagcgttcaAGATCGAGACCCGACGC chr3:119008956-Variant-A;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative C gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac ACGTCGTAATCA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAacgtcgtaatcaAGATCGAGACCCGACGC chr3:119008956-Alternative-C;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative T gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac ACCGGTTCATCG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAaccggttcatcgAGATCGAGACCCGACGC chr3:119008956-Alternative-T;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative C gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CGACAACATCTA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAcgacaacatctaAGATCGAGACCCGACGC chr3:119008956-Alternative-C;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative C gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GCCGATAGAGCA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgccgatagagcaAGATCGAGACCCGACGC chr3:119008956-Alternative-C;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative T gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GCATCCGTGTTC CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaTatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgcatccgtgttcAGATCGAGACCCGACGC chr3:119008956-Alternative-T;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Variant A gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CTACGAGACATA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAActacgagacataAGATCGAGACCCGACGC chr3:119008956-Variant-A;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Variant A gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GTGTCGTATTCT CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgtgtcgtattctAGATCGAGACCCGACGC chr3:119008956-Variant-A;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Reference G gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GGCGACAACGAT CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAggcgacaacgatAGATCGAGACCCGACGC chr3:119008956-Reference-G;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Variant A gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac AACGACTGACCG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAaacgactgaccgAGATCGAGACCCGACGC chr3:119008956-Variant-A;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Reference G gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac ACGGTATGTTCA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAacggtatgttcaAGATCGAGACCCGACGC chr3:119008956-Reference-G;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Variant A gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac AATACCACACCG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaAatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAaataccacaccgAGATCGAGACCCGACGC chr3:119008956-Variant-A;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Reference G gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac ACACGCCATCAG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAacacgccatcagAGATCGAGACCCGACGC chr3:119008956-Reference-G;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative C gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GACTGTCTTGTT CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgactgtcttgttAGATCGAGACCCGACGC chr3:119008956-Alternative-C;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Reference G gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GAGTCATCGGAG CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgagtcatcggagAGATCGAGACCCGACGC chr3:119008956-Reference-G;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Alternative C gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac CGAACACCGTTA CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaCatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAcgaacaccgttaAGATCGAGACCCGACGC chr3:119008956-Alternative-C;Patient-62 chr3:119008956-GA DeNovo Patient-62 intergenic NA 0.000512821 -0.22 0.61 -0.55 ARHGAP31 4263 Reference G gaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcac GACCGTTAGTAT CGACGCGGTCTCTCTCTgaggcaagcagatcacctgagtccaagggtttgagactaacctttggcaaGatgagaaaaccccatctctacaaaacattagccaggcatggtggtgcacAGAGGGAGACGGACGTCTCAATAAgaccgttagtatAGATCGAGACCCGACGC chr3:119008956-Reference-G;Patient-62 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative G tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa AGCCAGACGCTT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAagccagacgcttAGATCGAGACCCGACGC chr3:119718286-Alternative-G;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative G tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa ACAGCTCAAGCG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAacagctcaagcgAGATCGAGACCCGACGC chr3:119718286-Alternative-G;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative T tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa ACGACTCATCTT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAacgactcatcttAGATCGAGACCCGACGC chr3:119718286-Alternative-T;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative T tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CTTACACTCGCG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAActtacactcgcgAGATCGAGACCCGACGC chr3:119718286-Alternative-T;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative G tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa AGGTAACGAACG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAaggtaacgaacgAGATCGAGACCCGACGC chr3:119718286-Alternative-G;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative T tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CTAGTGGTGCGT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAActagtggtgcgtAGATCGAGACCCGACGC chr3:119718286-Alternative-T;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Variant A tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CGGAACGCGTAT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAcggaacgcgtatAGATCGAGACCCGACGC chr3:119718286-Variant-A;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative G tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa GGATATCGCCAA CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAggatatcgccaaAGATCGAGACCCGACGC chr3:119718286-Alternative-G;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative T tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CAGACGCAATCG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAcagacgcaatcgAGATCGAGACCCGACGC chr3:119718286-Alternative-T;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Variant A tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa AGATCCGTGCGA CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAagatccgtgcgaAGATCGAGACCCGACGC chr3:119718286-Variant-A;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative G tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa AACGTCTGTCTT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcGaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAaacgtctgtcttAGATCGAGACCCGACGC chr3:119718286-Alternative-G;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Variant A tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa ACGTGTTCTCAT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAacgtgttctcatAGATCGAGACCCGACGC chr3:119718286-Variant-A;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Variant A tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa GTGTACCTGTGG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAgtgtacctgtggAGATCGAGACCCGACGC chr3:119718286-Variant-A;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Variant A tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa GGTTATGCCATA CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcAaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAggttatgccataAGATCGAGACCCGACGC chr3:119718286-Variant-A;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Alternative T tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa ATCGCTTGACAT CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcTaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAatcgcttgacatAGATCGAGACCCGACGC chr3:119718286-Alternative-T;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Reference C tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CAGATTGATTCG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAcagattgattcgAGATCGAGACCCGACGC chr3:119718286-Reference-C;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Reference C tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa GCCGCTGTTAAG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAgccgctgttaagAGATCGAGACCCGACGC chr3:119718286-Reference-C;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Reference C tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa GTGTAACGGACG CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAgtgtaacggacgAGATCGAGACCCGACGC chr3:119718286-Reference-C;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Reference C tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CGGAACCTGAAC CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAcggaacctgaacAGATCGAGACCCGACGC chr3:119718286-Reference-C;Patient-71 chr3:119718286-CA DeNovo Patient-71 intronic GSK3B NA 9.9e-05 -0.18 0.81 -2.27 GSK3B 94977 Reference C tgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaa CGATACAACCAC CGACGCGGTCTCTCTCTtgaccctgacaagttaatttaaaatttctttgtacttaggtttccttatcCaaataataacaatatcaatcacacagtactaatggtaagaattatgtaaAGAGGGAGACGGACGTCTCAATAAcgatacaaccacAGATCGAGACCCGACGC chr3:119718286-Reference-C;Patient-71 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Reference C aatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca AATGTCTCTTCG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAaatgtctcttcgAGATCGAGACCCGACGC chr3:120298167-Reference-C;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Reference C aatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca ATAGCACGATGT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAatagcacgatgtAGATCGAGACCCGACGC chr3:120298167-Reference-C;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative G aatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GGTTAGTGCTAT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAggttagtgctatAGATCGAGACCCGACGC chr3:120298167-Alternative-G;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Reference C aatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GGTATGACTACG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAggtatgactacgAGATCGAGACCCGACGC chr3:120298167-Reference-C;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative G aatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca CGATTACGATGT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAcgattacgatgtAGATCGAGACCCGACGC chr3:120298167-Alternative-G;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative G aatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca CACAGCGAGCAA CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAcacagcgagcaaAGATCGAGACCCGACGC chr3:120298167-Alternative-G;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative G aatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GTAGCTTCCTAT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgtagcttcctatAGATCGAGACCCGACGC chr3:120298167-Alternative-G;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Variant T aatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca AGACTGGACAGT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAagactggacagtAGATCGAGACCCGACGC chr3:120298167-Variant-T;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Variant T aatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca AATAGTCCGAAG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAaatagtccgaagAGATCGAGACCCGACGC chr3:120298167-Variant-T;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative A aatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca CGCAATGGATAT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAcgcaatggatatAGATCGAGACCCGACGC chr3:120298167-Alternative-A;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Variant T aatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca CGATGCTATCGG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAcgatgctatcggAGATCGAGACCCGACGC chr3:120298167-Variant-T;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative A aatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GAGATGTGATAC CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgagatgtgatacAGATCGAGACCCGACGC chr3:120298167-Alternative-A;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative G aatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GAATCATACGAG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagGtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgaatcatacgagAGATCGAGACCCGACGC chr3:120298167-Alternative-G;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative A aatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GATACGGTTATC CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgatacggttatcAGATCGAGACCCGACGC chr3:120298167-Alternative-A;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Reference C aatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GTAGTCACTAGT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgtagtcactagtAGATCGAGACCCGACGC chr3:120298167-Reference-C;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Variant T aatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca ATACCAACGCTA CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAataccaacgctaAGATCGAGACCCGACGC chr3:120298167-Variant-T;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Reference C aatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca ATTACGCAACCA CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagCtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAattacgcaaccaAGATCGAGACCCGACGC chr3:120298167-Reference-C;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative A aatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca AACTTGATCGCT CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAaacttgatcgctAGATCGAGACCCGACGC chr3:120298167-Alternative-A;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Variant T aatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca GTTGGTGGACAG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagTtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAgttggtggacagAGATCGAGACCCGACGC chr3:120298167-Variant-T;Patient-58 chr3:120298167-CT DeNovo Patient-58 intergenic 0.000312 0.002564103 -0.01 2.47 0 NDUFB4 16960 Alternative A aatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactca AATCTGGATTCG CGACGCGGTCTCTCTCTaatattggaagattagagaaaaagggttctagatgactcatcaagggaagAtcagtcagcctctgtactcatacactccagtgcctgagcacggaactcaAGAGGGAGACGGACGTCTCAATAAaatctggattcgAGATCGAGACCCGACGC chr3:120298167-Alternative-A;Patient-58 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Reference T ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GCACGGCGTTAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgcacggcgttatAGATCGAGACCCGACGC chr3:121913278-Reference-T;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative G ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatct ATAGCGGTGGAC CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAatagcggtggacAGATCGAGACCCGACGC chr3:121913278-Alternative-G;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Reference T ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatct AACGAAGGTGAA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAaacgaaggtgaaAGATCGAGACCCGACGC chr3:121913278-Reference-T;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative G ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GATCATTAGCCA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgatcattagccaAGATCGAGACCCGACGC chr3:121913278-Alternative-G;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Variant C ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GCGAGCTACGAA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgcgagctacgaaAGATCGAGACCCGACGC chr3:121913278-Variant-C;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Reference T ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatct CGCACCTAAGGT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAcgcacctaaggtAGATCGAGACCCGACGC chr3:121913278-Reference-T;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Reference T ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GATTCGCTCTAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgattcgctctatAGATCGAGACCCGACGC chr3:121913278-Reference-T;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Variant C ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GGTAGGTAGATT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAggtaggtagattAGATCGAGACCCGACGC chr3:121913278-Variant-C;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative A ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatct ACCTTATGAACG CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAaccttatgaacgAGATCGAGACCCGACGC chr3:121913278-Alternative-A;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative G ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatct AGCAACCGCAAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAagcaaccgcaatAGATCGAGACCCGACGC chr3:121913278-Alternative-G;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative A ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GCGCAACACGAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgcgcaacacgatAGATCGAGACCCGACGC chr3:121913278-Alternative-A;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative G ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GAATCAGCGTAA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgaatcagcgtaaAGATCGAGACCCGACGC chr3:121913278-Alternative-G;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Variant C ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatct AAGCATCCGACC CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAaagcatccgaccAGATCGAGACCCGACGC chr3:121913278-Variant-C;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative G ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatct ATAATGAGCACG CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcGactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAataatgagcacgAGATCGAGACCCGACGC chr3:121913278-Alternative-G;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Variant C ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatct CGACGGCTATAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAcgacggctatatAGATCGAGACCCGACGC chr3:121913278-Variant-C;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative A ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GCATATACGAGA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgcatatacgagaAGATCGAGACCCGACGC chr3:121913278-Alternative-A;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Variant C ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatct CGTACTAGATCA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcCactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAcgtactagatcaAGATCGAGACCCGACGC chr3:121913278-Variant-C;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative A ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatct ACTTACACAGCA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAacttacacagcaAGATCGAGACCCGACGC chr3:121913278-Alternative-A;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Reference T ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GTGACGCAATAA CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcTactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAgtgacgcaataaAGATCGAGACCCGACGC chr3:121913278-Reference-T;Patient-89 chr3:121913278-TC Inherited Patient-89 intronic CASR 9.6e-05 0.00016 0.15 5.03 1.47 CASR 10747 Alternative A ttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatct GGTAGGTGTAAT CGACGCGGTCTCTCTCTttggaacagccatggtgaggactgattgcctccttcacccccgcactttcAactcttcttccttcctgtccccctacccaccacttgtcccttcctatctAGAGGGAGACGGACGTCTCAATAAggtaggtgtaatAGATCGAGACCCGACGC chr3:121913278-Alternative-A;Patient-89 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Variant A gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga AGTCGTTGTAGT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAagtcgttgtagtAGATCGAGACCCGACGC chr3:123124295-Variant-A;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Variant A gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga CAGCATAAGAGT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAcagcataagagtAGATCGAGACCCGACGC chr3:123124295-Variant-A;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Variant A gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga CAATAGCATGCT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAcaatagcatgctAGATCGAGACCCGACGC chr3:123124295-Variant-A;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative T gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga CGTCTGACGTTC CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAcgtctgacgttcAGATCGAGACCCGACGC chr3:123124295-Alternative-T;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Variant A gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga AGTTATCGGAAC CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAagttatcggaacAGATCGAGACCCGACGC chr3:123124295-Variant-A;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Reference C gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GTGCCGATGGAA CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgtgccgatggaaAGATCGAGACCCGACGC chr3:123124295-Reference-C;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Reference C gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga ATAGCTTCGACC CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAatagcttcgaccAGATCGAGACCCGACGC chr3:123124295-Reference-C;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Reference C gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga ACCTAGTCTAGA CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAacctagtctagaAGATCGAGACCCGACGC chr3:123124295-Reference-C;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Variant A gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GCGAATGGACGT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaAcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgcgaatggacgtAGATCGAGACCCGACGC chr3:123124295-Variant-A;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative T gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GGTGTTCCATGG CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAggtgttccatggAGATCGAGACCCGACGC chr3:123124295-Alternative-T;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Reference C gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GCGCTATTATCA CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgcgctattatcaAGATCGAGACCCGACGC chr3:123124295-Reference-C;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Reference C gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GATTGAGTCGCT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaCcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgattgagtcgctAGATCGAGACCCGACGC chr3:123124295-Reference-C;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative G gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga AGTTAACTAGCG CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAagttaactagcgAGATCGAGACCCGACGC chr3:123124295-Alternative-G;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative T gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga ATAGCGGTAACA CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAatagcggtaacaAGATCGAGACCCGACGC chr3:123124295-Alternative-T;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative G gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GTGATAAGACGG CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgtgataagacggAGATCGAGACCCGACGC chr3:123124295-Alternative-G;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative G gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GTGATCACGGAC CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgtgatcacggacAGATCGAGACCCGACGC chr3:123124295-Alternative-G;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative G gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga CGAGCGAGATGT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAcgagcgagatgtAGATCGAGACCCGACGC chr3:123124295-Alternative-G;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative G gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga AATAGCTGGACA CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaGcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAaatagctggacaAGATCGAGACCCGACGC chr3:123124295-Alternative-G;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative T gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga CATCATCCTTCT CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAcatcatccttctAGATCGAGACCCGACGC chr3:123124295-Alternative-T;Patient-54 chr3:123124295-CA DeNovo Patient-54 intronic ADCY5 9.6e-05 9.9e-05 -0.12 1.2 -0.09 ADCY5 43096 Alternative T gaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgagga GTGATCACGTGC CGACGCGGTCTCTCTCTgaatgcaaatgcttccagacccagaacaccggcacagagaggactgaacaTcaacttggttctctcctttaggacctgagagatctgtgagaggtgaggaAGAGGGAGACGGACGTCTCAATAAgtgatcacgtgcAGATCGAGACCCGACGC chr3:123124295-Alternative-T;Patient-54 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Reference G gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat ACCTACCGCGTT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAacctaccgcgttAGATCGAGACCCGACGC chr3:125075936-Reference-G;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Reference G gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GTCGCTATGACG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgtcgctatgacgAGATCGAGACCCGACGC chr3:125075936-Reference-G;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Reference G gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat CGTGGACGTCTA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAcgtggacgtctaAGATCGAGACCCGACGC chr3:125075936-Reference-G;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Reference G gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat CGTACGTGTCGA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAcgtacgtgtcgaAGATCGAGACCCGACGC chr3:125075936-Reference-G;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Reference G gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GATCAGGTACGG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctGgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgatcaggtacggAGATCGAGACCCGACGC chr3:125075936-Reference-G;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative T gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat AAGTACCAACCT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAaagtaccaacctAGATCGAGACCCGACGC chr3:125075936-Alternative-T;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative C gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat ATTCTCGCAAGA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAattctcgcaagaAGATCGAGACCCGACGC chr3:125075936-Alternative-C;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative T gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GACCTATGATGC CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgacctatgatgcAGATCGAGACCCGACGC chr3:125075936-Alternative-T;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative T gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat AGATGTTGCGAT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAagatgttgcgatAGATCGAGACCCGACGC chr3:125075936-Alternative-T;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Variant A gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat AGTTGGCGCCTA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAagttggcgcctaAGATCGAGACCCGACGC chr3:125075936-Variant-A;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative T gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat AGATATGTGACG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAagatatgtgacgAGATCGAGACCCGACGC chr3:125075936-Alternative-T;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative T gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat CACGATCACGAG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctTgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAcacgatcacgagAGATCGAGACCCGACGC chr3:125075936-Alternative-T;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Variant A gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat ACGAGATAACAC CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAacgagataacacAGATCGAGACCCGACGC chr3:125075936-Variant-A;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Variant A gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat CTGGTCATAGCA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAActggtcatagcaAGATCGAGACCCGACGC chr3:125075936-Variant-A;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Variant A gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat CTTGGACGTAAG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAActtggacgtaagAGATCGAGACCCGACGC chr3:125075936-Variant-A;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative C gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GTAGGATAACGT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgtaggataacgtAGATCGAGACCCGACGC chr3:125075936-Alternative-C;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative C gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat ATCTGTATTCGG CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAatctgtattcggAGATCGAGACCCGACGC chr3:125075936-Alternative-C;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Variant A gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat ATTGGATCGGTT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctAgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAattggatcggttAGATCGAGACCCGACGC chr3:125075936-Variant-A;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative C gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GACGAATCGATA CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgacgaatcgataAGATCGAGACCCGACGC chr3:125075936-Alternative-C;Patient-37 chr3:125075936-GA DeNovo Patient-37 intronic ZNF148 3.2e-05 0.00016 0.39 8.25 2.27 ZNF148 18261 Alternative C gaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccat GAAGATGTGCAT CGACGCGGTCTCTCTCTgaagaaaaacgggtgtccatcatcagccttcggcggcccccccgctgtctCgcggacacttgttagtggctgcggagaagccactcacaaagtttcccatAGAGGGAGACGGACGTCTCAATAAgaagatgtgcatAGATCGAGACCCGACGC chr3:125075936-Alternative-C;Patient-37 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative G ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CAGCGTACGAAC CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAcagcgtacgaacAGATCGAGACCCGACGC chr3:126351240-Alternative-G;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Reference T ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AGGCTATACCGC CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAaggctataccgcAGATCGAGACCCGACGC chr3:126351240-Reference-T;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative G ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AAGATCAGCGGC CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAaagatcagcggcAGATCGAGACCCGACGC chr3:126351240-Alternative-G;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Reference T ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CGGCTACGACTA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAcggctacgactaAGATCGAGACCCGACGC chr3:126351240-Reference-T;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative G ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GTCAGGTACATA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgtcaggtacataAGATCGAGACCCGACGC chr3:126351240-Alternative-G;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative G ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GAGTTAATCCGA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgagttaatccgaAGATCGAGACCCGACGC chr3:126351240-Alternative-G;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Variant A ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CGACTATACAAC CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAcgactatacaacAGATCGAGACCCGACGC chr3:126351240-Variant-A;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative G ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AGTTATGCCACT CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttGaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAagttatgccactAGATCGAGACCCGACGC chr3:126351240-Alternative-G;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Reference T ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GAGAGTCTCTGT CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgagagtctctgtAGATCGAGACCCGACGC chr3:126351240-Reference-T;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Variant A ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AGATGTTCACCG CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAagatgttcaccgAGATCGAGACCCGACGC chr3:126351240-Variant-A;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative C ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GCGATAAGAATC CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgcgataagaatcAGATCGAGACCCGACGC chr3:126351240-Alternative-C;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative C ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc ACCAATGCGCAG CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAaccaatgcgcagAGATCGAGACCCGACGC chr3:126351240-Alternative-C;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative C ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AAGTTCACGCTT CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAaagttcacgcttAGATCGAGACCCGACGC chr3:126351240-Alternative-C;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative C ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc AGTGTCTCTAGG CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAagtgtctctaggAGATCGAGACCCGACGC chr3:126351240-Alternative-C;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Reference T ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GAGATAGGTTCA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgagataggttcaAGATCGAGACCCGACGC chr3:126351240-Reference-T;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Alternative C ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CTAATCCGACTA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttCaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAActaatccgactaAGATCGAGACCCGACGC chr3:126351240-Alternative-C;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Variant A ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc GCACGAATCTTA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAgcacgaatcttaAGATCGAGACCCGACGC chr3:126351240-Variant-A;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Reference T ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc ACCAATGGCGCA CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttTaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAaccaatggcgcaAGATCGAGACCCGACGC chr3:126351240-Reference-T;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Variant A ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CTATAGAACGGT CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAActatagaacggtAGATCGAGACCCGACGC chr3:126351240-Variant-A;Patient-75 chr3:126351240-TA DeNovo Patient-75 intronic TXNRD3 0.00016 4.95e-05 -0.36 0.23 -3.26 TXNRD3 22757 Variant A ttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtc CACTTAACTGCT CGACGCGGTCTCTCTCTttgctcacaatttttaattatacaaataattcaaaaatacattttcatttAaaaaaaattcaaatactttgggaggccgaggaaggcagatcacaaggtcAGAGGGAGACGGACGTCTCAATAAcacttaactgctAGATCGAGACCCGACGC chr3:126351240-Variant-A;Patient-75 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative A taagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGAGTCTCTCAA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagagtctctcaaAGATCGAGACCCGACGC chr3:126702758-Alternative-A;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Reference C taagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc CTAGAACACGTT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAActagaacacgttAGATCGAGACCCGACGC chr3:126702758-Reference-C;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Reference C taagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc CACACGCGTTGT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAcacacgcgttgtAGATCGAGACCCGACGC chr3:126702758-Reference-C;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative A taagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGTCGGATTGTT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagtcggattgttAGATCGAGACCCGACGC chr3:126702758-Alternative-A;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Variant T taagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc ACCAATTCCTGT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAaccaattcctgtAGATCGAGACCCGACGC chr3:126702758-Variant-T;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Reference C taagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc GTAACCAACGCA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAgtaaccaacgcaAGATCGAGACCCGACGC chr3:126702758-Reference-C;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative A taagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGTGCGGAGATT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagtgcggagattAGATCGAGACCCGACGC chr3:126702758-Alternative-A;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Reference C taagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGCACGCACGAA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagcacgcacgaaAGATCGAGACCCGACGC chr3:126702758-Reference-C;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative A taagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc ACTGAATGGTGT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAactgaatggtgtAGATCGAGACCCGACGC chr3:126702758-Alternative-A;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative A taagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc GACTGAATTCCA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccAgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAgactgaattccaAGATCGAGACCCGACGC chr3:126702758-Alternative-A;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Variant T taagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc GTGGCGTAGTCA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAgtggcgtagtcaAGATCGAGACCCGACGC chr3:126702758-Variant-T;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative G taagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc ACGTGTCTAACA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAacgtgtctaacaAGATCGAGACCCGACGC chr3:126702758-Alternative-G;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Reference C taagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc CATATAGTTCGC CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccCgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAcatatagttcgcAGATCGAGACCCGACGC chr3:126702758-Reference-C;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Variant T taagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc GATAAGGTTGAC CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAgataaggttgacAGATCGAGACCCGACGC chr3:126702758-Variant-T;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative G taagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc CGACGAAGATCA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAcgacgaagatcaAGATCGAGACCCGACGC chr3:126702758-Alternative-G;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Variant T taagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGATACGCATGT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagatacgcatgtAGATCGAGACCCGACGC chr3:126702758-Variant-T;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative G taagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc GGTGTATCAGTT CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAggtgtatcagttAGATCGAGACCCGACGC chr3:126702758-Alternative-G;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative G taagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc ACCGAAGATTGA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAaccgaagattgaAGATCGAGACCCGACGC chr3:126702758-Alternative-G;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Variant T taagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AAGATACAACGC CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccTgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAaagatacaacgcAGATCGAGACCCGACGC chr3:126702758-Variant-T;Patient-34 chr3:126702758-CT Inherited Patient-34 intergenic 9.6e-05 0.000513 0.36 7.9 -0.79 PLXNA1 4678 Alternative G taagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggc AGATGTGAGCGA CGACGCGGTCTCTCTCTtaagcccccggccggccctggggcgcggggtggaagttggagcggcttccGgaccacagctgccaccgctcccactggcccggagtgcggggaggtgggcAGAGGGAGACGGACGTCTCAATAAagatgtgagcgaAGATCGAGACCCGACGC chr3:126702758-Alternative-G;Patient-34 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Variant A cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc AAGTAGCGATAC CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAaagtagcgatacAGATCGAGACCCGACGC chr3:126795223-Variant-A;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative C cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc ACCTCATAACAG CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAacctcataacagAGATCGAGACCCGACGC chr3:126795223-Alternative-C;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative T cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GTTGATAGACCT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgttgatagacctAGATCGAGACCCGACGC chr3:126795223-Alternative-T;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative T cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GATTCCTCGATT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgattcctcgattAGATCGAGACCCGACGC chr3:126795223-Alternative-T;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Variant A cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GCGAGACAACGT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgcgagacaacgtAGATCGAGACCCGACGC chr3:126795223-Variant-A;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Reference G cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GGAACTTAGAGT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAggaacttagagtAGATCGAGACCCGACGC chr3:126795223-Reference-G;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Variant A cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc CGGTACCGACTA CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAcggtaccgactaAGATCGAGACCCGACGC chr3:126795223-Variant-A;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Reference G cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc ATATGGACTCGT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAatatggactcgtAGATCGAGACCCGACGC chr3:126795223-Reference-G;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Reference G cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GAGTAATCTGCT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgagtaatctgctAGATCGAGACCCGACGC chr3:126795223-Reference-G;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative T cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc ATCCGACGCTGA CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAatccgacgctgaAGATCGAGACCCGACGC chr3:126795223-Alternative-T;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative T cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc CACGGTCCTAAT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAcacggtcctaatAGATCGAGACCCGACGC chr3:126795223-Alternative-T;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative T cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc CTCTTGGCTTAA CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcTgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAActcttggcttaaAGATCGAGACCCGACGC chr3:126795223-Alternative-T;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Variant A cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc AACGTGGTCGAG CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAaacgtggtcgagAGATCGAGACCCGACGC chr3:126795223-Variant-A;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative C cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc CGGTGAGTGCTT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAcggtgagtgcttAGATCGAGACCCGACGC chr3:126795223-Alternative-C;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative C cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc ATAAGTCGAGCT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAataagtcgagctAGATCGAGACCCGACGC chr3:126795223-Alternative-C;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Variant A cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GTTCAATACGGT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcAgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgttcaatacggtAGATCGAGACCCGACGC chr3:126795223-Variant-A;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Reference G cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc AGCCACGCCATT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAagccacgccattAGATCGAGACCCGACGC chr3:126795223-Reference-G;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative C cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc CACAACAGCATC CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAcacaacagcatcAGATCGAGACCCGACGC chr3:126795223-Alternative-C;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Reference G cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc AGAGTGTAGTGT CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcGgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAagagtgtagtgtAGATCGAGACCCGACGC chr3:126795223-Reference-G;Patient-41 chr3:126795223-GA DeNovo Patient-41 intergenic 3.2e-05 0.000512821 -0.11 1.3 0.05 PLXNA1 87785 Alternative C cagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttcccc GATGATGGACTA CGACGCGGTCTCTCTCTcagggagcagcactccgccgggaggctcaggccacgcaggagcccacggcCgggcagggaggctcaggcatgggtggctgcaggtcctgagcccttccccAGAGGGAGACGGACGTCTCAATAAgatgatggactaAGATCGAGACCCGACGC chr3:126795223-Alternative-C;Patient-41 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative G cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GTCGCGCGTAAT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgtcgcgcgtaatAGATCGAGACCCGACGC chr3:127633600-Alternative-G;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Reference A cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CATCGCAAGCAT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAcatcgcaagcatAGATCGAGACCCGACGC chr3:127633600-Reference-A;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Reference A cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccac ACACGCGTGCAT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAacacgcgtgcatAGATCGAGACCCGACGC chr3:127633600-Reference-A;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Reference A cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CGGCTTATGCAG CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAcggcttatgcagAGATCGAGACCCGACGC chr3:127633600-Reference-A;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative T cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CGGATGACCATT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAcggatgaccattAGATCGAGACCCGACGC chr3:127633600-Alternative-T;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative T cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GCGATAGACAAG CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgcgatagacaagAGATCGAGACCCGACGC chr3:127633600-Alternative-T;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative T cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GGTGACGTGCTT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAggtgacgtgcttAGATCGAGACCCGACGC chr3:127633600-Alternative-T;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative T cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GTGTACTGATGT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgtgtactgatgtAGATCGAGACCCGACGC chr3:127633600-Alternative-T;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Variant C cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac ACGTGTTGGTCG CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAacgtgttggtcgAGATCGAGACCCGACGC chr3:127633600-Variant-C;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Variant C cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac AGTCATATCAGG CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAagtcatatcaggAGATCGAGACCCGACGC chr3:127633600-Variant-C;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Variant C cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CTTATGGAGCAT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAActtatggagcatAGATCGAGACCCGACGC chr3:127633600-Variant-C;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Variant C cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GCAGTGCATGCT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgcagtgcatgctAGATCGAGACCCGACGC chr3:127633600-Variant-C;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Variant C cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CGCTCATACCAC CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcCctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAcgctcataccacAGATCGAGACCCGACGC chr3:127633600-Variant-C;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Reference A cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccac ACACGGCAATCA CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAacacggcaatcaAGATCGAGACCCGACGC chr3:127633600-Reference-A;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Reference A cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GATACTCGTGAT CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcActgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgatactcgtgatAGATCGAGACCCGACGC chr3:127633600-Reference-A;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative T cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GGAAGTGTCGCA CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcTctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAggaagtgtcgcaAGATCGAGACCCGACGC chr3:127633600-Alternative-T;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative G cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GGTAGGCTGTTC CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAggtaggctgttcAGATCGAGACCCGACGC chr3:127633600-Alternative-G;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative G cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac CAGCGACTTATA CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAcagcgacttataAGATCGAGACCCGACGC chr3:127633600-Alternative-G;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative G cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac GCAGCATCGAAG CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAgcagcatcgaagAGATCGAGACCCGACGC chr3:127633600-Alternative-G;Patient-30 chr3:127633600-AC Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA MGLL 91506 Alternative G cagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccac ATCGGACGATAA CGACGCGGTCTCTCTCTcagctgccgtattttatgacacttgcctaaggaagacttcccatccctgcGctgctcccggctaaccagtcctttctcgggactcctggaaacctcccacAGAGGGAGACGGACGTCTCAATAAatcggacgataaAGATCGAGACCCGACGC chr3:127633600-Alternative-G;Patient-30 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Reference C atgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CGCTAACATAAG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcgctaacataagAGATCGAGACCCGACGC chr3:127968786-Reference-C;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Variant G atgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CGCCGGTAATCA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcgccggtaatcaAGATCGAGACCCGACGC chr3:127968786-Variant-G;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Reference C atgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct AGGACGCTAACT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAaggacgctaactAGATCGAGACCCGACGC chr3:127968786-Reference-C;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Variant G atgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct GAGGTTAACAGT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAgaggttaacagtAGATCGAGACCCGACGC chr3:127968786-Variant-G;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Reference C atgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct GGCGGATTATGG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAggcggattatggAGATCGAGACCCGACGC chr3:127968786-Reference-C;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Reference C atgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CGCGGCTAATGT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcgcggctaatgtAGATCGAGACCCGACGC chr3:127968786-Reference-C;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative T atgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct GATTAGCGGCCA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAgattagcggccaAGATCGAGACCCGACGC chr3:127968786-Alternative-T;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative T atgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct AACTTCTCGTAC CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAaacttctcgtacAGATCGAGACCCGACGC chr3:127968786-Alternative-T;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative T atgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct GTAGTGGAGTCG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAgtagtggagtcgAGATCGAGACCCGACGC chr3:127968786-Alternative-T;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative T atgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CGTAGTCGTCGA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcgtagtcgtcgaAGATCGAGACCCGACGC chr3:127968786-Alternative-T;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative A atgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct ACTTAGAGTAGG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAacttagagtaggAGATCGAGACCCGACGC chr3:127968786-Alternative-A;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative A atgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CATCTCGGAGCA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcatctcggagcaAGATCGAGACCCGACGC chr3:127968786-Alternative-A;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Reference C atgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct AATGTACTGCCG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcCtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAaatgtactgccgAGATCGAGACCCGACGC chr3:127968786-Reference-C;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative T atgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CTTGGAAGTTGT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcTtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAActtggaagttgtAGATCGAGACCCGACGC chr3:127968786-Alternative-T;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative A atgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct ACGCAGAGTAAT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAacgcagagtaatAGATCGAGACCCGACGC chr3:127968786-Alternative-A;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Variant G atgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CGACAGCAAGCA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAcgacagcaagcaAGATCGAGACCCGACGC chr3:127968786-Variant-G;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative A atgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct CTCGTAGTACGG CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAActcgtagtacggAGATCGAGACCCGACGC chr3:127968786-Alternative-A;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Variant G atgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct AGTCGTGACGTC CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAagtcgtgacgtcAGATCGAGACCCGACGC chr3:127968786-Variant-G;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Alternative A atgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct ACAACGCCGATT CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcAtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAacaacgccgattAGATCGAGACCCGACGC chr3:127968786-Alternative-A;Patient-89 chr3:127968786-CG Inherited Patient-89 intronic EEFSEC NA 4.95e-05 0.02 2.87 0.94 EEFSEC 96488 Variant G atgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccct AACTCGCTATGA CGACGCGGTCTCTCTCTatgtatagctatttattcaattttctgctttcaattcctctcagtacatcGtaggaggtatgaagtggtatatcatcatagttttcatttgcatttccctAGAGGGAGACGGACGTCTCAATAAaactcgctatgaAGATCGAGACCCGACGC chr3:127968786-Variant-G;Patient-89 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Variant A gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGGTTATCGTAC CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAaggttatcgtacAGATCGAGACCCGACGC chr3:128321297-Variant-A;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative G gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AATCGTGATTCG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAaatcgtgattcgAGATCGAGACCCGACGC chr3:128321297-Alternative-G;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Variant A gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGTGTTAAGACG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagtgttaagacgAGATCGAGACCCGACGC chr3:128321297-Variant-A;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Reference T gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGCTGCGTCACT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagctgcgtcactAGATCGAGACCCGACGC chr3:128321297-Reference-T;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Variant A gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGTTCGACTGAT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagttcgactgatAGATCGAGACCCGACGC chr3:128321297-Variant-A;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Reference T gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc CGATCCGGACTT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAcgatccggacttAGATCGAGACCCGACGC chr3:128321297-Reference-T;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative G gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc ATCCGGCTTCGT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAatccggcttcgtAGATCGAGACCCGACGC chr3:128321297-Alternative-G;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Variant A gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGCTATCACGAG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagctatcacgagAGATCGAGACCCGACGC chr3:128321297-Variant-A;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Reference T gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc CATATTGGATCG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAcatattggatcgAGATCGAGACCCGACGC chr3:128321297-Reference-T;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Reference T gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc ATCCGAAGACAT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAatccgaagacatAGATCGAGACCCGACGC chr3:128321297-Reference-T;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Variant A gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGGAACGTACTA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggAggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAaggaacgtactaAGATCGAGACCCGACGC chr3:128321297-Variant-A;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative G gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc ACCTTACCAACT CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAaccttaccaactAGATCGAGACCCGACGC chr3:128321297-Alternative-G;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative G gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc GTCATCAATACG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAgtcatcaatacgAGATCGAGACCCGACGC chr3:128321297-Alternative-G;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Reference T gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc CGGCGTATATTA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggTggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAcggcgtatattaAGATCGAGACCCGACGC chr3:128321297-Reference-T;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative C gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc ACATAGCCACCA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAacatagccaccaAGATCGAGACCCGACGC chr3:128321297-Alternative-C;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative C gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc CTGTTCAGGACG CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAActgttcaggacgAGATCGAGACCCGACGC chr3:128321297-Alternative-C;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative C gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGCGGCGATCAA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagcggcgatcaaAGATCGAGACCCGACGC chr3:128321297-Alternative-C;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative G gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGTGTCTTCGAA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggGggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAagtgtcttcgaaAGATCGAGACCCGACGC chr3:128321297-Alternative-G;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative C gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc AGGCGATAGCGA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAaggcgatagcgaAGATCGAGACCCGACGC chr3:128321297-Alternative-C;Patient-87 chr3:128321297-TA Inherited Patient-87 intergenic 6.4e-05 0.000512821 -0.16 0.95 -3.52 RPN1 48421 Alternative C gggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatccc GCGTGTTCAGCA CGACGCGGTCTCTCTCTgggcagggggagcatctcattaaagggacaagaaaaagccatcatcggggCggagaatgatttaaatggccttggggaattgccgcaagctctgtatcccAGAGGGAGACGGACGTCTCAATAAgcgtgttcagcaAGATCGAGACCCGACGC chr3:128321297-Alternative-C;Patient-87 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative T aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt ACACGTAACCTA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAacacgtaacctaAGATCGAGACCCGACGC chr3:128941063-Alternative-T;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative T aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CGTGACTAGATT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAcgtgactagattAGATCGAGACCCGACGC chr3:128941063-Alternative-T;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative T aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CGAATCGCGTTC CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAcgaatcgcgttcAGATCGAGACCCGACGC chr3:128941063-Alternative-T;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative T aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CTTGATCCTCTT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAActtgatcctcttAGATCGAGACCCGACGC chr3:128941063-Alternative-T;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Reference A aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt GATAGTTGACAG CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAgatagttgacagAGATCGAGACCCGACGC chr3:128941063-Reference-A;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Reference A aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt GGAACGGATTCG CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAggaacggattcgAGATCGAGACCCGACGC chr3:128941063-Reference-A;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative G aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CTGAGTGTAGTT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAActgagtgtagttAGATCGAGACCCGACGC chr3:128941063-Alternative-G;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative G aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt ACCGGACGACTA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAaccggacgactaAGATCGAGACCCGACGC chr3:128941063-Alternative-G;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative T aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt GTAGGTCGCAAT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttTgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAgtaggtcgcaatAGATCGAGACCCGACGC chr3:128941063-Alternative-T;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Reference A aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CTTGCCATATGG CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAActtgccatatggAGATCGAGACCCGACGC chr3:128941063-Reference-A;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Reference A aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt ATTGCATCCGTT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAattgcatccgttAGATCGAGACCCGACGC chr3:128941063-Reference-A;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative G aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt ATCTGGTAGCAT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAatctggtagcatAGATCGAGACCCGACGC chr3:128941063-Alternative-G;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Reference A aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt AGTTGAGAGCGA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttAgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAagttgagagcgaAGATCGAGACCCGACGC chr3:128941063-Reference-A;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Variant C aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt AGCAACTATCCT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAagcaactatcctAGATCGAGACCCGACGC chr3:128941063-Variant-C;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Variant C aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt GCCGAAGTATAA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAgccgaagtataaAGATCGAGACCCGACGC chr3:128941063-Variant-C;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative G aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CTACGACGGCAT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAActacgacggcatAGATCGAGACCCGACGC chr3:128941063-Alternative-G;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Variant C aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CGTCACGATAAC CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAcgtcacgataacAGATCGAGACCCGACGC chr3:128941063-Variant-C;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Variant C aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt AGGTTAGGATCA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAaggttaggatcaAGATCGAGACCCGACGC chr3:128941063-Variant-C;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Variant C aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt GTTACCACGATA CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttCgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAgttaccacgataAGATCGAGACCCGACGC chr3:128941063-Variant-C;Patient-25 chr3:128941063-AC Inherited Patient-25 intergenic 0.000573 0.00154 -0.27 0.43 -2.14 COPG1 27389 Alternative G aataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattctt CAAGATCGAACT CGACGCGGTCTCTCTCTaataatatgtacagataattcataaaaggaaatccaagaaacacaaccttGgtcatcaaggaaatgcaaattcaggtaataatgagatggtaatattcttAGAGGGAGACGGACGTCTCAATAAcaagatcgaactAGATCGAGACCCGACGC chr3:128941063-Alternative-G;Patient-25 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative C tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GATTACGTAGTC CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgattacgtagtcAGATCGAGACCCGACGC chr3:129204664-Alternative-C;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative C tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GTCTCGCATACG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgtctcgcatacgAGATCGAGACCCGACGC chr3:129204664-Alternative-C;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative C tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt AGGAACCTGTGG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAaggaacctgtggAGATCGAGACCCGACGC chr3:129204664-Alternative-C;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative A tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CGAACTGTTAGT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAcgaactgttagtAGATCGAGACCCGACGC chr3:129204664-Alternative-A;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative C tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CAGTTGTAGGTT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAcagttgtaggttAGATCGAGACCCGACGC chr3:129204664-Alternative-C;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative C tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt AATGCGTGTAAG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcCggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAaatgcgtgtaagAGATCGAGACCCGACGC chr3:129204664-Alternative-C;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Reference G tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CTAGCGTGAACG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAActagcgtgaacgAGATCGAGACCCGACGC chr3:129204664-Reference-G;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Reference G tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt AACGATCACGCG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAaacgatcacgcgAGATCGAGACCCGACGC chr3:129204664-Reference-G;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Variant T tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CTCTATTGCACA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAActctattgcacaAGATCGAGACCCGACGC chr3:129204664-Variant-T;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Reference G tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GACAAGGTTGAT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgacaaggttgatAGATCGAGACCCGACGC chr3:129204664-Reference-G;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Variant T tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CTGCATTAGCTT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAActgcattagcttAGATCGAGACCCGACGC chr3:129204664-Variant-T;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Reference G tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GGTATTCAAGCT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAggtattcaagctAGATCGAGACCCGACGC chr3:129204664-Reference-G;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Variant T tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt ACTCATAGCAAG CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAactcatagcaagAGATCGAGACCCGACGC chr3:129204664-Variant-T;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Reference G tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GGTGATTAGACA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcGggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAggtgattagacaAGATCGAGACCCGACGC chr3:129204664-Reference-G;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Variant T tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt CTCAACTTGGAA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAActcaacttggaaAGATCGAGACCCGACGC chr3:129204664-Variant-T;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative A tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt AAGCGCGTAACC CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAaagcgcgtaaccAGATCGAGACCCGACGC chr3:129204664-Alternative-A;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative A tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GCGCAAGATCCA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgcgcaagatccaAGATCGAGACCCGACGC chr3:129204664-Alternative-A;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Variant T tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt AGCCACGCGTAA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcTggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAagccacgcgtaaAGATCGAGACCCGACGC chr3:129204664-Variant-T;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative A tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GCCTGATACTAA CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgcctgatactaaAGATCGAGACCCGACGC chr3:129204664-Alternative-A;Patient-98 chr3:129204664-GT DeNovo Patient-98 intronic IFT122 NA 4.95e-05 1.1 13.91 1.21 IFT122 45784 Alternative A tcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgt GTGGCTATTGTT CGACGCGGTCTCTCTCTtcagcagcaaagtcttgctgactgcaccaaggccatcctgctgacgcagcAggtcaggactgccaagggttaggaaacacattctcaagacaaaggctgtAGAGGGAGACGGACGTCTCAATAAgtggctattgttAGATCGAGACCCGACGC chr3:129204664-Alternative-A;Patient-98 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative C tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GGTCGATTGTTA CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAggtcgattgttaAGATCGAGACCCGACGC chr3:130441293-Alternative-C;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative T tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata AAGTACGACTTC CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAaagtacgacttcAGATCGAGACCCGACGC chr3:130441293-Alternative-T;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Variant G tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CAGTACGGTTAT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAcagtacggttatAGATCGAGACCCGACGC chr3:130441293-Variant-G;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative C tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata AACGTGGTCTTA CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAaacgtggtcttaAGATCGAGACCCGACGC chr3:130441293-Alternative-C;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative T tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata ACGTTCTTGCGG CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAacgttcttgcggAGATCGAGACCCGACGC chr3:130441293-Alternative-T;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative C tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CATTGTGAAGCT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAcattgtgaagctAGATCGAGACCCGACGC chr3:130441293-Alternative-C;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Variant G tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata AGGTGGTAAGGT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAaggtggtaaggtAGATCGAGACCCGACGC chr3:130441293-Variant-G;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Reference A tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata AACTTAGCGCAC CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAaacttagcgcacAGATCGAGACCCGACGC chr3:130441293-Reference-A;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative C tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GCAACCGAAGCA CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgcaaccgaagcaAGATCGAGACCCGACGC chr3:130441293-Alternative-C;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Reference A tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CGCTAATACCGG CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAcgctaataccggAGATCGAGACCCGACGC chr3:130441293-Reference-A;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative T tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GTGTCTATCAAG CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgtgtctatcaagAGATCGAGACCCGACGC chr3:130441293-Alternative-T;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Reference A tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GCGTAGTGTAGA CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgcgtagtgtagaAGATCGAGACCCGACGC chr3:130441293-Reference-A;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Variant G tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata AGAACCTCGAGT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAagaacctcgagtAGATCGAGACCCGACGC chr3:130441293-Variant-G;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative T tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GCGTAACTAGAA CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgcgtaactagaaAGATCGAGACCCGACGC chr3:130441293-Alternative-T;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative C tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata ACCGTCAATACG CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcCtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAaccgtcaatacgAGATCGAGACCCGACGC chr3:130441293-Alternative-C;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Variant G tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GTGTTCGAGCGT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgtgttcgagcgtAGATCGAGACCCGACGC chr3:130441293-Variant-G;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Reference A tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CGTACGGAGCTT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAcgtacggagcttAGATCGAGACCCGACGC chr3:130441293-Reference-A;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Alternative T tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CTGTCGTCTGGT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcTtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAActgtcgtctggtAGATCGAGACCCGACGC chr3:130441293-Alternative-T;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Variant G tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata CAGACGACACAG CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcGtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAcagacgacacagAGATCGAGACCCGACGC chr3:130441293-Variant-G;Patient-109 chr3:130441293-AG DeNovo Patient-109 intronic PIK3R4 NA 3.84e-05 0.09 4.11 1.37 PIK3R4 24402 Reference A tccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaata GTATCCTGTTGT CGACGCGGTCTCTCTCTtccagaaaaatctccacaaactttgagtgcaggggtaaaaaactattttcAtgatgatttttgctttaaaattgatgggcatctgttttgtagataaataAGAGGGAGACGGACGTCTCAATAAgtatcctgttgtAGATCGAGACCCGACGC chr3:130441293-Reference-A;Patient-109 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative T agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg CGATAGACGGAC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAcgatagacggacAGATCGAGACCCGACGC chr3:13142539-Alternative-T;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Reference G agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ACTTCGATTCGT CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAacttcgattcgtAGATCGAGACCCGACGC chr3:13142539-Reference-G;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative C agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg CTCTTGGTACAT CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAActcttggtacatAGATCGAGACCCGACGC chr3:13142539-Alternative-C;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Reference G agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ATAGCAGAACAC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAatagcagaacacAGATCGAGACCCGACGC chr3:13142539-Reference-G;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative C agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GATAGGATACGC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgataggatacgcAGATCGAGACCCGACGC chr3:13142539-Alternative-C;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative C agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ATAAGCGCATGA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAataagcgcatgaAGATCGAGACCCGACGC chr3:13142539-Alternative-C;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Variant A agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GCATGTCGGTAC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgcatgtcggtacAGATCGAGACCCGACGC chr3:13142539-Variant-A;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative C agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg AGCATGATGTTC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAagcatgatgttcAGATCGAGACCCGACGC chr3:13142539-Alternative-C;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative T agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg CTATACCGGATA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAActataccggataAGATCGAGACCCGACGC chr3:13142539-Alternative-T;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Reference G agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ACGTTCGATAGA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAacgttcgatagaAGATCGAGACCCGACGC chr3:13142539-Reference-G;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Reference G agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ATACGTGTCGCA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAatacgtgtcgcaAGATCGAGACCCGACGC chr3:13142539-Reference-G;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative C agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg CATGACCATACG CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggCggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAcatgaccatacgAGATCGAGACCCGACGC chr3:13142539-Alternative-C;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Variant A agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg ACTGTCGGCCAA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAactgtcggccaaAGATCGAGACCCGACGC chr3:13142539-Variant-A;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Reference G agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GTGACGTAGACG CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggGggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgtgacgtagacgAGATCGAGACCCGACGC chr3:13142539-Reference-G;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Variant A agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GACGTTGGTATT CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgacgttggtattAGATCGAGACCCGACGC chr3:13142539-Variant-A;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative T agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg CAGATGCTATAC CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAcagatgctatacAGATCGAGACCCGACGC chr3:13142539-Alternative-T;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative T agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg AGCTGGTAGTAA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAagctggtagtaaAGATCGAGACCCGACGC chr3:13142539-Alternative-T;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Variant A agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GTAACGGACCGA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgtaacggaccgaAGATCGAGACCCGACGC chr3:13142539-Variant-A;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Variant A agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GATTCTTGGTCT CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggAggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAgattcttggtctAGATCGAGACCCGACGC chr3:13142539-Variant-A;Patient-55 chr3:13142539-GA Inherited Patient-55 intergenic NA 0.000513 0.08 3.95 1.76 IQSEC1 27921 Alternative T agagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagaggg GGAGGTTCAGCA CGACGCGGTCTCTCTCTagagtgctccagacagagaaaacagcccatgtgtctgaagagctgcaaggTggccgagaggctgggagggactgagctgggaagaggaggtggaagagggAGAGGGAGACGGACGTCTCAATAAggaggttcagcaAGATCGAGACCCGACGC chr3:13142539-Alternative-T;Patient-55 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative T ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag AGTGCCAGAATA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAagtgccagaataAGATCGAGACCCGACGC chr3:133452725-Alternative-T;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative G ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CTTGCTTACCGG CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAActtgcttaccggAGATCGAGACCCGACGC chr3:133452725-Alternative-G;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative G ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GTCGTACGACAC CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAgtcgtacgacacAGATCGAGACCCGACGC chr3:133452725-Alternative-G;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative T ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GTTACCGGCGTT CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAgttaccggcgttAGATCGAGACCCGACGC chr3:133452725-Alternative-T;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Reference A ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag AGAGGTGTCTAA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAagaggtgtctaaAGATCGAGACCCGACGC chr3:133452725-Reference-A;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative G ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GCGTGTCTCGAT CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAgcgtgtctcgatAGATCGAGACCCGACGC chr3:133452725-Alternative-G;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative T ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CTCTATCGGATA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAActctatcggataAGATCGAGACCCGACGC chr3:133452725-Alternative-T;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative T ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GGCTAGGATACG CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAggctaggatacgAGATCGAGACCCGACGC chr3:133452725-Alternative-T;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative G ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag ACTCTGCGATGC CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAactctgcgatgcAGATCGAGACCCGACGC chr3:133452725-Alternative-G;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Variant C ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CGTCGCTTGTCA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAcgtcgcttgtcaAGATCGAGACCCGACGC chr3:133452725-Variant-C;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative T ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CTGTCGCCTATA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaTcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAActgtcgcctataAGATCGAGACCCGACGC chr3:133452725-Alternative-T;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Reference A ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag ACGTTCGGTATA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAacgttcggtataAGATCGAGACCCGACGC chr3:133452725-Reference-A;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Alternative G ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GATGGAAGGATA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaGcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAgatggaaggataAGATCGAGACCCGACGC chr3:133452725-Alternative-G;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Reference A ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag AAGCAGCACAAT CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAaagcagcacaatAGATCGAGACCCGACGC chr3:133452725-Reference-A;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Reference A ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GCGTTGACATCG CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAgcgttgacatcgAGATCGAGACCCGACGC chr3:133452725-Reference-A;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Reference A ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CAGATCACAACT CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaAcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAcagatcacaactAGATCGAGACCCGACGC chr3:133452725-Reference-A;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Variant C ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag GGAGTTGGTCGA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAggagttggtcgaAGATCGAGACCCGACGC chr3:133452725-Variant-C;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Variant C ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag AATAGGCTCGAA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAaataggctcgaaAGATCGAGACCCGACGC chr3:133452725-Variant-C;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Variant C ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag ACTTCTTACCGA CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAacttcttaccgaAGATCGAGACCCGACGC chr3:133452725-Variant-C;Patient-36 chr3:133452725-AC DeNovo Patient-36 intergenic 0.00013 0.000512821 -0.59 0.04 -3.89 TF 12074 Variant C ttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcag CGTTCGTACGAG CGACGCGGTCTCTCTCTttctcttgtttccattttctttccttccttaaaaaacaaaaaaaaaaaaaCcatgtatttattctattctcgttcctttgcttgaggtggctatgggcagAGAGGGAGACGGACGTCTCAATAAcgttcgtacgagAGATCGAGACCCGACGC chr3:133452725-Variant-C;Patient-36 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative T cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GATTGCGGTAGG CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAgattgcggtaggAGATCGAGACCCGACGC chr3:133533267-Alternative-T;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative T cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GGACATTAGCGG CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAggacattagcggAGATCGAGACCCGACGC chr3:133533267-Alternative-T;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative T cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgct AGCCAAGCATAA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAagccaagcataaAGATCGAGACCCGACGC chr3:133533267-Alternative-T;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative T cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GGTGGTAACGGT CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAggtggtaacggtAGATCGAGACCCGACGC chr3:133533267-Alternative-T;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Reference G cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CGGTAGTTGCGT CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcggtagttgcgtAGATCGAGACCCGACGC chr3:133533267-Reference-G;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Variant A cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GCGTTAACGGAG CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAgcgttaacggagAGATCGAGACCCGACGC chr3:133533267-Variant-A;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Reference G cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CAGCTGATGGAG CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcagctgatggagAGATCGAGACCCGACGC chr3:133533267-Reference-G;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Variant A cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgct ACGAACACGTTC CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAacgaacacgttcAGATCGAGACCCGACGC chr3:133533267-Variant-A;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Reference G cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CGTCGCGATGAA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcgtcgcgatgaaAGATCGAGACCCGACGC chr3:133533267-Reference-G;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Reference G cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgct ATAATCGTGCGA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAataatcgtgcgaAGATCGAGACCCGACGC chr3:133533267-Reference-G;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative T cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GATGTTCATGCA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcTcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAgatgttcatgcaAGATCGAGACCCGACGC chr3:133533267-Alternative-T;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Variant A cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgct AGCTCTCACGTC CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAagctctcacgtcAGATCGAGACCCGACGC chr3:133533267-Variant-A;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Variant A cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgct ACGTTACCACGA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAacgttaccacgaAGATCGAGACCCGACGC chr3:133533267-Variant-A;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Reference G cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgct AGACCGATTCAC CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcGcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAagaccgattcacAGATCGAGACCCGACGC chr3:133533267-Reference-G;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Variant A cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CGATAGGATAGT CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcAcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcgataggatagtAGATCGAGACCCGACGC chr3:133533267-Variant-A;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative C cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgct GATCAGGTCTTA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAgatcaggtcttaAGATCGAGACCCGACGC chr3:133533267-Alternative-C;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative C cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgct ACACGAGCTGAA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAacacgagctgaaAGATCGAGACCCGACGC chr3:133533267-Alternative-C;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative C cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CGAGTGCTATGA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcgagtgctatgaAGATCGAGACCCGACGC chr3:133533267-Alternative-C;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative C cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CGGCATAGTGCT CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAAcggcatagtgctAGATCGAGACCCGACGC chr3:133533267-Alternative-C;Patient-79 chr3:133533267-GA DeNovo Patient-79 intronic SRPRB NA 9.9e-05 -0.08 1.64 0 SRPRB 30389 Alternative C cgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgct CTAGGCTCATAA CGACGCGGTCTCTCTCTcgcccgcctcggcttcccaaagtgctgggattacaggcgtgagccaccgcCcctggccggtttttttgtttttttgttttctttgagatggagtttcgctAGAGGGAGACGGACGTCTCAATAActaggctcataaAGATCGAGACCCGACGC chr3:133533267-Alternative-C;Patient-79 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Variant C tataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GGTTGTAACGTT CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAggttgtaacgttAGATCGAGACCCGACGC chr3:133912444-Variant-C;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Variant C tataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GATTCTTGGACA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgattcttggacaAGATCGAGACCCGACGC chr3:133912444-Variant-C;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative A tataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GGACGTCGGTAA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAggacgtcggtaaAGATCGAGACCCGACGC chr3:133912444-Alternative-A;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Variant C tataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CACGCATTCGCT CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAcacgcattcgctAGATCGAGACCCGACGC chr3:133912444-Variant-C;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative G tataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GTGCTAATCGCG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgtgctaatcgcgAGATCGAGACCCGACGC chr3:133912444-Alternative-G;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative A tataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CTCTGACTTCAA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAActctgacttcaaAGATCGAGACCCGACGC chr3:133912444-Alternative-A;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative A tataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GGTTGACATCTA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAggttgacatctaAGATCGAGACCCGACGC chr3:133912444-Alternative-A;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative A tataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct ATCCTATGCGCG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAatcctatgcgcgAGATCGAGACCCGACGC chr3:133912444-Alternative-A;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative A tataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct AGGCCAATTGCG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatAaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAaggccaattgcgAGATCGAGACCCGACGC chr3:133912444-Alternative-A;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Reference T tataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GATTGTCTGAGA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgattgtctgagaAGATCGAGACCCGACGC chr3:133912444-Reference-T;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Reference T tataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CTTGCTAGTTGT CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAActtgctagttgtAGATCGAGACCCGACGC chr3:133912444-Reference-T;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Variant C tataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CAAGCGGACAAG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAcaagcggacaagAGATCGAGACCCGACGC chr3:133912444-Variant-C;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative G tataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct AACGCCTACGTT CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAaacgcctacgttAGATCGAGACCCGACGC chr3:133912444-Alternative-G;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative G tataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CGCGCGTATCTA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAcgcgcgtatctaAGATCGAGACCCGACGC chr3:133912444-Alternative-G;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Reference T tataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GGAGTCTGGCAA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAggagtctggcaaAGATCGAGACCCGACGC chr3:133912444-Reference-T;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative G tataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GATGATGCTTGT CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgatgatgcttgtAGATCGAGACCCGACGC chr3:133912444-Alternative-G;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Alternative G tataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GTAACTCTGGCG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatGaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgtaactctggcgAGATCGAGACCCGACGC chr3:133912444-Alternative-G;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Reference T tataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct CTGGCGTCATTC CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAActggcgtcattcAGATCGAGACCCGACGC chr3:133912444-Reference-T;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Reference T tataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct GCGAATATACCA CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatTaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAgcgaatataccaAGATCGAGACCCGACGC chr3:133912444-Reference-T;Patient-91 chr3:133912444-TC DeNovo Patient-91 intronic RYK NA 4.95e-05 -0.18 0.84 0.35 RYK 57049 Variant C tataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatct AGCTACCTACGG CGACGCGGTCTCTCTCTtataacaattaagaatccattctaatgagcaaagattgatatttaaacatCaaaagcaatgatgtgcctcttctgagtagcttaaactactttcacatctAGAGGGAGACGGACGTCTCAATAAagctacctacggAGATCGAGACCCGACGC chr3:133912444-Variant-C;Patient-91 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Reference G gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ACCTAAGCGCGT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAacctaagcgcgtAGATCGAGACCCGACGC chr3:134121870-Reference-G;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Reference G gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag AGACGGTTACGG CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAagacggttacggAGATCGAGACCCGACGC chr3:134121870-Reference-G;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative C gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ACACCAAGTAAG CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAacaccaagtaagAGATCGAGACCCGACGC chr3:134121870-Alternative-C;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Reference G gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag CTACGAGAGCGA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAActacgagagcgaAGATCGAGACCCGACGC chr3:134121870-Reference-G;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Reference G gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ACTAGATCATGC CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAactagatcatgcAGATCGAGACCCGACGC chr3:134121870-Reference-G;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Reference G gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ATAGGCGTGTAA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaGgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAataggcgtgtaaAGATCGAGACCCGACGC chr3:134121870-Reference-G;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative T gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag AGATGGCACACG CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAagatggcacacgAGATCGAGACCCGACGC chr3:134121870-Alternative-T;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative T gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GATTCGGTCGAC CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgattcggtcgacAGATCGAGACCCGACGC chr3:134121870-Alternative-T;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative T gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GCGGATCATATA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgcggatcatataAGATCGAGACCCGACGC chr3:134121870-Alternative-T;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative T gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag AGAGTAGCGAAT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAagagtagcgaatAGATCGAGACCCGACGC chr3:134121870-Alternative-T;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Variant A gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag CGTACCTGACGA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAcgtacctgacgaAGATCGAGACCCGACGC chr3:134121870-Variant-A;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative C gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GAATCTCCGTAA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgaatctccgtaaAGATCGAGACCCGACGC chr3:134121870-Alternative-C;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative C gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GTGCTTCTTACA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgtgcttcttacaAGATCGAGACCCGACGC chr3:134121870-Alternative-C;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Variant A gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag CAGGCGTAGTCA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAcaggcgtagtcaAGATCGAGACCCGACGC chr3:134121870-Variant-A;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative C gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GATCCTCTTGAT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgatcctcttgatAGATCGAGACCCGACGC chr3:134121870-Alternative-C;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Variant A gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GGATCATTACCA CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAggatcattaccaAGATCGAGACCCGACGC chr3:134121870-Variant-A;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative C gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GTACAATGTCGT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaCgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgtacaatgtcgtAGATCGAGACCCGACGC chr3:134121870-Alternative-C;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Alternative T gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag GTCATGTACCTT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaTgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAgtcatgtaccttAGATCGAGACCCGACGC chr3:134121870-Alternative-T;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Variant A gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ACACCAAGGACG CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAacaccaaggacgAGATCGAGACCCGACGC chr3:134121870-Variant-A;Patient-49 chr3:134121870-GA DeNovo Patient-49 intergenic 9.6e-05 0.000513 0.08 3.89 2.44 CEP63 82704 Variant A gttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaag ATTAAGGCACCT CGACGCGGTCTCTCTCTgttatgagggtgggtgctcatgaagaggctagaagggggtcagatggccaAgagcctaacaagagtggaggaagaggaggtatgaaatgttgcagaaaagAGAGGGAGACGGACGTCTCAATAAattaaggcacctAGATCGAGACCCGACGC chr3:134121870-Variant-A;Patient-49 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative C acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggc ACGAGTATGTGA CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAacgagtatgtgaAGATCGAGACCCGACGC chr3:134464497-Alternative-C;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative C acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GGATCTTCGCAG CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAggatcttcgcagAGATCGAGACCCGACGC chr3:134464497-Alternative-C;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative C acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggc AGGTGTTATTGC CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAaggtgttattgcAGATCGAGACCCGACGC chr3:134464497-Alternative-C;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Variant A acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggc CATAACTCGGCG CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAcataactcggcgAGATCGAGACCCGACGC chr3:134464497-Variant-A;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Variant A acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggc AGTCGAGAGCGT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAagtcgagagcgtAGATCGAGACCCGACGC chr3:134464497-Variant-A;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Variant A acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GGTACACCAACT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAggtacaccaactAGATCGAGACCCGACGC chr3:134464497-Variant-A;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Variant A acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GTAAGCACCTAT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAgtaagcacctatAGATCGAGACCCGACGC chr3:134464497-Variant-A;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Variant A acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggc CTTATTCTCGCT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagAtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAActtattctcgctAGATCGAGACCCGACGC chr3:134464497-Variant-A;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative T acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggc ATAGCATAACGC CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAatagcataacgcAGATCGAGACCCGACGC chr3:134464497-Alternative-T;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative T acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggc AAGCAGCAGCGT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAaagcagcagcgtAGATCGAGACCCGACGC chr3:134464497-Alternative-T;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative T acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggc ACGCGAATGGAT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAacgcgaatggatAGATCGAGACCCGACGC chr3:134464497-Alternative-T;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative T acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggc CTACCGACTACC CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAActaccgactaccAGATCGAGACCCGACGC chr3:134464497-Alternative-T;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative T acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggc ATAGCGTGTACT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagTtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAatagcgtgtactAGATCGAGACCCGACGC chr3:134464497-Alternative-T;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Reference G acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GGAGTTGTGTAA CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAggagttgtgtaaAGATCGAGACCCGACGC chr3:134464497-Reference-G;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Reference G acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggc CGGTGAACGAAG CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAcggtgaacgaagAGATCGAGACCCGACGC chr3:134464497-Reference-G;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Reference G acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggc CGACTTGATCTA CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAcgacttgatctaAGATCGAGACCCGACGC chr3:134464497-Reference-G;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Reference G acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GTTGTAGGTGAA CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAgttgtaggtgaaAGATCGAGACCCGACGC chr3:134464497-Reference-G;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Reference G acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggc AGATGTACGCGG CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagGtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAagatgtacgcggAGATCGAGACCCGACGC chr3:134464497-Reference-G;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative C acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggc ATCTGTGTCTGT CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAatctgtgtctgtAGATCGAGACCCGACGC chr3:134464497-Alternative-C;Patient-30 chr3:134464497-GA Inherited Patient-30 intergenic NA 0.000512821 NA NA NA EPHB1 49601 Alternative C acatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggc GCAAGCATGACC CGACGCGGTCTCTCTCTacatgtgctgtgttggtttgctgcacccattaactcgtcatttacattagCtatttctcttaatgctatctttccctcagccccccaccccatgacaggcAGAGGGAGACGGACGTCTCAATAAgcaagcatgaccAGATCGAGACCCGACGC chr3:134464497-Alternative-C;Patient-30 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative C gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CTTGACGGACCT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAActtgacggacctAGATCGAGACCCGACGC chr3:134525755-Alternative-C;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative C gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga GACGAGGCAGTT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAgacgaggcagttAGATCGAGACCCGACGC chr3:134525755-Alternative-C;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Variant A gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga AGCTGGTTACCT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAagctggttacctAGATCGAGACCCGACGC chr3:134525755-Variant-A;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Variant A gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CTTGTCTGTCTT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAActtgtctgtcttAGATCGAGACCCGACGC chr3:134525755-Variant-A;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Variant A gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga ACAAGGTGCCGT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAacaaggtgccgtAGATCGAGACCCGACGC chr3:134525755-Variant-A;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative C gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga GACGCTTAGACA CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAgacgcttagacaAGATCGAGACCCGACGC chr3:134525755-Alternative-C;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative T gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CGTTCGACTTAA CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAcgttcgacttaaAGATCGAGACCCGACGC chr3:134525755-Alternative-T;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Variant A gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga AGGCAAGTCAGT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAaggcaagtcagtAGATCGAGACCCGACGC chr3:134525755-Variant-A;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative C gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CGATACGATAAG CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAcgatacgataagAGATCGAGACCCGACGC chr3:134525755-Alternative-C;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative C gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CAATTATGCGCT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcCcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAcaattatgcgctAGATCGAGACCCGACGC chr3:134525755-Alternative-C;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Reference G gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga AGACCGGCTGTT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAagaccggctgttAGATCGAGACCCGACGC chr3:134525755-Reference-G;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Variant A gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CGGTATACACCA CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcAcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAcggtatacaccaAGATCGAGACCCGACGC chr3:134525755-Variant-A;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Reference G gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga ACGGCAGATTAA CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAacggcagattaaAGATCGAGACCCGACGC chr3:134525755-Reference-G;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative T gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CTGAAGTATCCT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAActgaagtatcctAGATCGAGACCCGACGC chr3:134525755-Alternative-T;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Reference G gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CTGCATTCAACT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAActgcattcaactAGATCGAGACCCGACGC chr3:134525755-Reference-G;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Reference G gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga GGTGGTATCAAT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAggtggtatcaatAGATCGAGACCCGACGC chr3:134525755-Reference-G;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Reference G gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga ACTATGGCGGCA CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcGcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAactatggcggcaAGATCGAGACCCGACGC chr3:134525755-Reference-G;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative T gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga GCGTTACAAGCG CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAgcgttacaagcgAGATCGAGACCCGACGC chr3:134525755-Alternative-T;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative T gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga AATCGCGTTCTT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAaatcgcgttcttAGATCGAGACCCGACGC chr3:134525755-Alternative-T;Patient-57 chr3:134525755-GA DeNovo Patient-57 intronic EPHB1 6.4e-05 4.95e-05 0.31 7.36 1.04 EPHB1 11655 Alternative T gaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtga CATTGTGGTTCT CGACGCGGTCTCTCTCTgaaagggctataaagggagtaaacaagtgatgtgactgagagtgatgggcTcaggcttggacaacttaaaacggggaagggaggccctctctgtctgtgaAGAGGGAGACGGACGTCTCAATAAcattgtggttctAGATCGAGACCCGACGC chr3:134525755-Alternative-T;Patient-57 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative T tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CTGCATTATTGC CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAActgcattattgcAGATCGAGACCCGACGC chr3:134533584-Alternative-T;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative T tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CTTGAGGTTAGT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAActtgaggttagtAGATCGAGACCCGACGC chr3:134533584-Alternative-T;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Variant A tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga AAGTGCTACCGG CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAaagtgctaccggAGATCGAGACCCGACGC chr3:134533584-Variant-A;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Reference G tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CGATCGGCTTCT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAcgatcggcttctAGATCGAGACCCGACGC chr3:134533584-Reference-G;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative T tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ATAGTCGCTGCG CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAatagtcgctgcgAGATCGAGACCCGACGC chr3:134533584-Alternative-T;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative T tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga GTCCGTGTTATT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAgtccgtgttattAGATCGAGACCCGACGC chr3:134533584-Alternative-T;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative T tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ATCGAGTAGGAT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcTtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAatcgagtaggatAGATCGAGACCCGACGC chr3:134533584-Alternative-T;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Reference G tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ATCATCGATCCT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAatcatcgatcctAGATCGAGACCCGACGC chr3:134533584-Reference-G;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative C tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CAGTAAGCTTCG CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAcagtaagcttcgAGATCGAGACCCGACGC chr3:134533584-Alternative-C;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Reference G tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CTAATGTCGGAT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAActaatgtcggatAGATCGAGACCCGACGC chr3:134533584-Reference-G;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative C tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga AATATATCCGCG CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAaatatatccgcgAGATCGAGACCCGACGC chr3:134533584-Alternative-C;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Variant A tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ATCTGCACAACA CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAatctgcacaacaAGATCGAGACCCGACGC chr3:134533584-Variant-A;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Reference G tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga GTTAACGTGCCG CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAgttaacgtgccgAGATCGAGACCCGACGC chr3:134533584-Reference-G;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative C tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ACAGACTCGTCA CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAacagactcgtcaAGATCGAGACCCGACGC chr3:134533584-Alternative-C;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative C tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CGTACGCTCCAT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAcgtacgctccatAGATCGAGACCCGACGC chr3:134533584-Alternative-C;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Variant A tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga GTGTCGTCCGTT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAgtgtcgtccgttAGATCGAGACCCGACGC chr3:134533584-Variant-A;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Reference G tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ACACATCGACCA CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcGtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAacacatcgaccaAGATCGAGACCCGACGC chr3:134533584-Reference-G;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Alternative C tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ACCGTACGTCAC CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcCtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAaccgtacgtcacAGATCGAGACCCGACGC chr3:134533584-Alternative-C;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Variant A tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga ACGTCGAAGACA CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAacgtcgaagacaAGATCGAGACCCGACGC chr3:134533584-Variant-A;Patient-93 chr3:134533584-GA Inherited Patient-93 intronic EPHB1 0.000127 4.95e-05 -0.35 0.27 -3.02 EPHB1 19484 Variant A tagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcaga CAGCTCGTAGGT CGACGCGGTCTCTCTCTtagaaagcccaggaggagttcctgtgagggaaggctctgcatcttgttgcAtcccaagtcccagggtccagttgccattgcagacgaagcttcattcagaAGAGGGAGACGGACGTCTCAATAAcagctcgtaggtAGATCGAGACCCGACGC chr3:134533584-Variant-A;Patient-93 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative A cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtca ACACATCGGATA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAacacatcggataAGATCGAGACCCGACGC chr3:135653460-Alternative-A;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Reference C cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CGATGTTGGATT CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcgatgttggattAGATCGAGACCCGACGC chr3:135653460-Reference-C;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Reference C cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GTGTTAATCTGG CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgtgttaatctggAGATCGAGACCCGACGC chr3:135653460-Reference-C;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative A cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CATATATGGCGA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcatatatggcgaAGATCGAGACCCGACGC chr3:135653460-Alternative-A;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Reference C cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GACTGATCGGCA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgactgatcggcaAGATCGAGACCCGACGC chr3:135653460-Reference-C;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Reference C cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CACATAGCACAC CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcacatagcacacAGATCGAGACCCGACGC chr3:135653460-Reference-C;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Reference C cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CGGTGTGCTCTA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacCggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcggtgtgctctaAGATCGAGACCCGACGC chr3:135653460-Reference-C;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative G cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CAGATATACCAC CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcagatataccacAGATCGAGACCCGACGC chr3:135653460-Alternative-G;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative G cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtca AGAGGTGCGCAA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAagaggtgcgcaaAGATCGAGACCCGACGC chr3:135653460-Alternative-G;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Variant T cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GACGTACGTTAT CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgacgtacgttatAGATCGAGACCCGACGC chr3:135653460-Variant-T;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative G cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtca ACGCGAGATCCA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAacgcgagatccaAGATCGAGACCCGACGC chr3:135653460-Alternative-G;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Variant T cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CGTAAGTCGGAC CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAcgtaagtcggacAGATCGAGACCCGACGC chr3:135653460-Variant-T;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Variant T cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GATTGCGGAACG CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgattgcggaacgAGATCGAGACCCGACGC chr3:135653460-Variant-T;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative A cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtca ACGGCTGAATAA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAacggctgaataaAGATCGAGACCCGACGC chr3:135653460-Alternative-A;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative G cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtca AACGGTAGTCAA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAaacggtagtcaaAGATCGAGACCCGACGC chr3:135653460-Alternative-G;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Variant T cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GACCATCGCTAA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgaccatcgctaaAGATCGAGACCCGACGC chr3:135653460-Variant-T;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Variant T cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtca CTGAGCATCCGA CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacTggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAActgagcatccgaAGATCGAGACCCGACGC chr3:135653460-Variant-T;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative A cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtca AATGTCATGTCG CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAaatgtcatgtcgAGATCGAGACCCGACGC chr3:135653460-Alternative-A;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative G cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtca GCGCAACAAGTC CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacGggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAgcgcaacaagtcAGATCGAGACCCGACGC chr3:135653460-Alternative-G;Patient-37 chr3:135653460-CT DeNovo Patient-37 intergenic 0.000159 0.000513 -0.1 1.44 0 PPP2R3A 31054 Alternative A cctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtca AATGCGGAACTT CGACGCGGTCTCTCTCTcctcccgagtagctaggattacagacgtgccaggtatgcaccaccacaacAggctgatttttgtatttttagtacaggtggggtttctccatgttggtcaAGAGGGAGACGGACGTCTCAATAAaatgcggaacttAGATCGAGACCCGACGC chr3:135653460-Alternative-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Reference T aatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat ATCATGCGCAAT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAatcatgcgcaatAGATCGAGACCCGACGC chr3:13596469-Reference-T;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Variant A aatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CGTTACGGATGC CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcgttacggatgcAGATCGAGACCCGACGC chr3:13596469-Variant-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Variant A aatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CGTAACATAGGT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcgtaacataggtAGATCGAGACCCGACGC chr3:13596469-Variant-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative G aatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat GATCCTACTCTT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAgatcctactcttAGATCGAGACCCGACGC chr3:13596469-Alternative-G;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Variant A aatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat ACCTTGCTAGTT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAaccttgctagttAGATCGAGACCCGACGC chr3:13596469-Variant-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Reference T aatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat GGCCGTAGATCA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAggccgtagatcaAGATCGAGACCCGACGC chr3:13596469-Reference-T;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative G aatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat ACAGACGAGAGT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAacagacgagagtAGATCGAGACCCGACGC chr3:13596469-Alternative-G;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative G aatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat AGGAGAAGATCA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAaggagaagatcaAGATCGAGACCCGACGC chr3:13596469-Alternative-G;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Variant A aatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat AGCGCTATACTA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAagcgctatactaAGATCGAGACCCGACGC chr3:13596469-Variant-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Reference T aatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat GGTCAACGCTGT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAggtcaacgctgtAGATCGAGACCCGACGC chr3:13596469-Reference-T;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Variant A aatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat ACGAACTGGTAA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttAaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAacgaactggtaaAGATCGAGACCCGACGC chr3:13596469-Variant-A;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative C aatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat GCATAACTGCAT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAgcataactgcatAGATCGAGACCCGACGC chr3:13596469-Alternative-C;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative G aatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CGAACACATAAG CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcgaacacataagAGATCGAGACCCGACGC chr3:13596469-Alternative-G;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative G aatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CAGATTAGGCGC CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttGaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcagattaggcgcAGATCGAGACCCGACGC chr3:13596469-Alternative-G;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Reference T aatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat AGGACACTAGGT CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAaggacactaggtAGATCGAGACCCGACGC chr3:13596469-Reference-T;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative C aatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CAAGGTCACGAA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcaaggtcacgaaAGATCGAGACCCGACGC chr3:13596469-Alternative-C;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Reference T aatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CGCTACGGACTA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttTaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcgctacggactaAGATCGAGACCCGACGC chr3:13596469-Reference-T;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative C aatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CTGGCACTTAGG CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAActggcacttaggAGATCGAGACCCGACGC chr3:13596469-Alternative-C;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative C aatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat GATCAGGTATGA CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAgatcaggtatgaAGATCGAGACCCGACGC chr3:13596469-Alternative-C;Patient-37 chr3:13596469-TA Inherited Patient-37 intronic FBLN2 NA 0.000198 -0.27 0.44 -0.47 FBLN2 5843 Alternative C aatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgat CACATTGAACGG CGACGCGGTCTCTCTCTaatcccttccctgttttgcttatatttactttttttttttttttttttttCaaatactgaattttactctgtcacccaggctggagtgcagtggtgcgatAGAGGGAGACGGACGTCTCAATAAcacattgaacggAGATCGAGACCCGACGC chr3:13596469-Alternative-C;Patient-37 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative A ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CATAGAGCGTGT CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcatagagcgtgtAGATCGAGACCCGACGC chr3:13621878-Alternative-A;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative A ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga AGGAGATAGCGG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAaggagatagcggAGATCGAGACCCGACGC chr3:13621878-Alternative-A;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Variant C ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CACTAGGCTATA CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcactaggctataAGATCGAGACCCGACGC chr3:13621878-Variant-C;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative A ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CTATTGATGTGG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAActattgatgtggAGATCGAGACCCGACGC chr3:13621878-Alternative-A;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Variant C ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GAATCTTGGACG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgaatcttggacgAGATCGAGACCCGACGC chr3:13621878-Variant-C;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative A ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GTACGGCATTCG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgtacggcattcgAGATCGAGACCCGACGC chr3:13621878-Alternative-A;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Variant C ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GATTGACCGTCG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgattgaccgtcgAGATCGAGACCCGACGC chr3:13621878-Variant-C;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Reference T ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga ATACCGTATCGA CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAataccgtatcgaAGATCGAGACCCGACGC chr3:13621878-Reference-T;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Variant C ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CTGCATATTCAC CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAActgcatattcacAGATCGAGACCCGACGC chr3:13621878-Variant-C;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative A ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GGTACGCGATGA CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaAgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAggtacgcgatgaAGATCGAGACCCGACGC chr3:13621878-Alternative-A;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative G ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga AGGCAAGCTGAC CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAaggcaagctgacAGATCGAGACCCGACGC chr3:13621878-Alternative-G;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative G ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CAAGGTGGAAGG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcaaggtggaaggAGATCGAGACCCGACGC chr3:13621878-Alternative-G;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Variant C ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CGTACGGAATCG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaCgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcgtacggaatcgAGATCGAGACCCGACGC chr3:13621878-Variant-C;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative G ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GACCGGAGTTCT CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgaccggagttctAGATCGAGACCCGACGC chr3:13621878-Alternative-G;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Reference T ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GATCGCGCTTGT CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgatcgcgcttgtAGATCGAGACCCGACGC chr3:13621878-Reference-T;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Reference T ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CGTACGCATGGT CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcgtacgcatggtAGATCGAGACCCGACGC chr3:13621878-Reference-T;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Reference T ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga CAAGATAGATGC CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAcaagatagatgcAGATCGAGACCCGACGC chr3:13621878-Reference-T;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative G ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GTAGTAACCAAC CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgtagtaaccaacAGATCGAGACCCGACGC chr3:13621878-Alternative-G;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Reference T ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga GTACAGTACAAG CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaTgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAgtacagtacaagAGATCGAGACCCGACGC chr3:13621878-Reference-T;Patient-91 chr3:13621878-TC Inherited Patient-91 intronic FBLN2 NA 4.95e-05 0.07 3.81 0.06 FBLN2 31252 Alternative G ttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccgggga ATCTCGTTCGAT CGACGCGGTCTCTCTCTttttacttacacctgcagtcatgagaatgtctctttcctcgttctattcaGgcgacaaatatttattgagtgcctctctcaccattgcaggagccggggaAGAGGGAGACGGACGTCTCAATAAatctcgttcgatAGATCGAGACCCGACGC chr3:13621878-Alternative-G;Patient-91 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Variant T tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GCGTTAACGTAA CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgcgttaacgtaaAGATCGAGACCCGACGC chr3:136421836-Variant-T;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Variant T tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GTCGAATAGGAT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgtcgaataggatAGATCGAGACCCGACGC chr3:136421836-Variant-T;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Variant T tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg AACGTCCTACTT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAaacgtcctacttAGATCGAGACCCGACGC chr3:136421836-Variant-T;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative A tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg CAATATACACCG CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAcaatatacaccgAGATCGAGACCCGACGC chr3:136421836-Alternative-A;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Variant T tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GATGGCTACAAT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgatggctacaatAGATCGAGACCCGACGC chr3:136421836-Variant-T;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Variant T tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg AATACGCGTGCG CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgTgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAaatacgcgtgcgAGATCGAGACCCGACGC chr3:136421836-Variant-T;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative A tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GAAGATGGTAAG CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgaagatggtaagAGATCGAGACCCGACGC chr3:136421836-Alternative-A;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative A tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GGAACGTCCGTT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAggaacgtccgttAGATCGAGACCCGACGC chr3:136421836-Alternative-A;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative C tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GCCTGCGAGTAT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgcctgcgagtatAGATCGAGACCCGACGC chr3:136421836-Alternative-C;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative C tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg ACAGGTGACGAC CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAacaggtgacgacAGATCGAGACCCGACGC chr3:136421836-Alternative-C;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative A tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg ACAGATAACGCA CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAacagataacgcaAGATCGAGACCCGACGC chr3:136421836-Alternative-A;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative C tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg CACGGCATCTTC CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAcacggcatcttcAGATCGAGACCCGACGC chr3:136421836-Alternative-C;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative C tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg AGACGTTGAGCG CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAagacgttgagcgAGATCGAGACCCGACGC chr3:136421836-Alternative-C;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative C tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GTTGATCTTGTC CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgCgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgttgatcttgtcAGATCGAGACCCGACGC chr3:136421836-Alternative-C;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Alternative A tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GGAGACATTCTT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgAgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAggagacattcttAGATCGAGACCCGACGC chr3:136421836-Alternative-A;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Reference G tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg ATACGGATGTTC CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAatacggatgttcAGATCGAGACCCGACGC chr3:136421836-Reference-G;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Reference G tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GATCGTGTTAAG CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAgatcgtgttaagAGATCGAGACCCGACGC chr3:136421836-Reference-G;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Reference G tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg GGATCGCCAGTT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAggatcgccagttAGATCGAGACCCGACGC chr3:136421836-Reference-G;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Reference G tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg ACTCTGCGTGGT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAactctgcgtggtAGATCGAGACCCGACGC chr3:136421836-Reference-G;Patient-83 chr3:136421836-GT Inherited Patient-83 intronic STAG1 0.000196 0.000479 -0.16 0.91 0 STAG1 49408 Reference G tgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctg AGCTCTTAGAGT CGACGCGGTCTCTCTCTtgtaatcccagctactcaggaggctgaggcaggagaatcatttgaacccgGgaggcacaggttgcagtgagctgatattgcgccactgcactccagcctgAGAGGGAGACGGACGTCTCAATAAagctcttagagtAGATCGAGACCCGACGC chr3:136421836-Reference-G;Patient-83 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative A gaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CGGCTCATCTTC CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAcggctcatcttcAGATCGAGACCCGACGC chr3:136473362-Alternative-A;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Reference C gaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ATCGTACTACGA CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAatcgtactacgaAGATCGAGACCCGACGC chr3:136473362-Reference-C;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Reference C gaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ACTGCATACGCA CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAactgcatacgcaAGATCGAGACCCGACGC chr3:136473362-Reference-C;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Reference C gaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa AGTATCTGCCGG CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAagtatctgccggAGATCGAGACCCGACGC chr3:136473362-Reference-C;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Reference C gaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa GGCGCGAGTATT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAggcgcgagtattAGATCGAGACCCGACGC chr3:136473362-Reference-C;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative A gaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CGCCGTAGTAAG CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAcgccgtagtaagAGATCGAGACCCGACGC chr3:136473362-Alternative-A;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative A gaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa AGGCCGCTATGA CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAaggccgctatgaAGATCGAGACCCGACGC chr3:136473362-Alternative-A;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative A gaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ACGGCACCATAT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAacggcaccatatAGATCGAGACCCGACGC chr3:136473362-Alternative-A;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative A gaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CGGAGATATATC CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacAtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAcggagatatatcAGATCGAGACCCGACGC chr3:136473362-Alternative-A;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Reference C gaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CGACGATCAACC CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacCtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAcgacgatcaaccAGATCGAGACCCGACGC chr3:136473362-Reference-C;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Variant T gaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa AGCTGTTAACAC CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAagctgttaacacAGATCGAGACCCGACGC chr3:136473362-Variant-T;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Variant T gaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CTTGGATCGCAG CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAActtggatcgcagAGATCGAGACCCGACGC chr3:136473362-Variant-T;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Variant T gaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ACCAACTAGGCG CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAaccaactaggcgAGATCGAGACCCGACGC chr3:136473362-Variant-T;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Variant T gaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa CGTAGGTTAACT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAcgtaggttaactAGATCGAGACCCGACGC chr3:136473362-Variant-T;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative G gaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa GCGGTGTTGAGA CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAgcggtgttgagaAGATCGAGACCCGACGC chr3:136473362-Alternative-G;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative G gaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa AGGTAGCCGACT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAaggtagccgactAGATCGAGACCCGACGC chr3:136473362-Alternative-G;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative G gaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa GGCTAGCGTAGT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAggctagcgtagtAGATCGAGACCCGACGC chr3:136473362-Alternative-G;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Variant T gaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ACCTCCAACGAT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacTtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAacctccaacgatAGATCGAGACCCGACGC chr3:136473362-Variant-T;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative G gaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa AATATACGGACG CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAaatatacggacgAGATCGAGACCCGACGC chr3:136473362-Alternative-G;Patient-55 chr3:136473362-CT Inherited Patient-55 intergenic 3.2e-05 0.000513 0 2.59 -1.7 STAG1 2116 Alternative G gaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaa ACCGTCGAATAT CGACGCGGTCTCTCTCTgaaaccctttttccctttcttttaagacacttccccggatctacacctacGtagtttgctggtcttctgatttctttgctagcacctcctctttcttcaaAGAGGGAGACGGACGTCTCAATAAaccgtcgaatatAGATCGAGACCCGACGC chr3:136473362-Alternative-G;Patient-55 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative A tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg CGACCATCGTGA CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAcgaccatcgtgaAGATCGAGACCCGACGC chr3:136500605-Alternative-A;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative A tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GTTAACGTGCAC CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgttaacgtgcacAGATCGAGACCCGACGC chr3:136500605-Alternative-A;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative A tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg ATCAACGCTGCG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAatcaacgctgcgAGATCGAGACCCGACGC chr3:136500605-Alternative-A;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Reference C tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GTCAATAGTAGG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgtcaatagtaggAGATCGAGACCCGACGC chr3:136500605-Reference-C;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Reference C tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GCATGCAAGTTA CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgcatgcaagttaAGATCGAGACCCGACGC chr3:136500605-Reference-C;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative A tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg ACATGTTACGAG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAacatgttacgagAGATCGAGACCCGACGC chr3:136500605-Alternative-A;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative A tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg AGTAACGAAGTC CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaAtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAagtaacgaagtcAGATCGAGACCCGACGC chr3:136500605-Alternative-A;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Reference C tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GGCTCACATCAG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAggctcacatcagAGATCGAGACCCGACGC chr3:136500605-Reference-C;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Reference C tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg ACGACTACTCTT CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAacgactactcttAGATCGAGACCCGACGC chr3:136500605-Reference-C;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Reference C tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GATGACATCAAG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaCtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgatgacatcaagAGATCGAGACCCGACGC chr3:136500605-Reference-C;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative G tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GTAATACGTAGG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgtaatacgtaggAGATCGAGACCCGACGC chr3:136500605-Alternative-G;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative G tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg CTATTGGTTCGT CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAActattggttcgtAGATCGAGACCCGACGC chr3:136500605-Alternative-G;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Variant T tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg CACAGGAGCCAA CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAcacaggagccaaAGATCGAGACCCGACGC chr3:136500605-Variant-T;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Variant T tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg AACTCTGCTAGA CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAaactctgctagaAGATCGAGACCCGACGC chr3:136500605-Variant-T;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative G tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg AGATGTGACGGC CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAagatgtgacggcAGATCGAGACCCGACGC chr3:136500605-Alternative-G;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative G tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg ATACCACAATCG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAataccacaatcgAGATCGAGACCCGACGC chr3:136500605-Alternative-G;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Alternative G tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg CGCTTCGGACTT CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaGtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAcgcttcggacttAGATCGAGACCCGACGC chr3:136500605-Alternative-G;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Variant T tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg ACAATGTGGAGT CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAacaatgtggagtAGATCGAGACCCGACGC chr3:136500605-Variant-T;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Variant T tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GCAGAACATAAC CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgcagaacataacAGATCGAGACCCGACGC chr3:136500605-Variant-T;Patient-37 chr3:136500605-CT DeNovo Patient-37 intergenic 0.000128 0.000513 0.05 3.4 1.07 STAG1 29359 Variant T tggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcgg GTATAGCGACGG CGACGCGGTCTCTCTCTtggttactttgtgctagctaattacgcgcctcttccaacagtgagagagaTtcttgcccctctccacctacaagcaggaacaaaggaagaaatggggcggAGAGGGAGACGGACGTCTCAATAAgtatagcgacggAGATCGAGACCCGACGC chr3:136500605-Variant-T;Patient-37 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Reference G gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GCGACGCATGTT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgcgacgcatgttAGATCGAGACCCGACGC chr3:136731632-Reference-G;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Reference G gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga CGGACTGAATAA CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAcggactgaataaAGATCGAGACCCGACGC chr3:136731632-Reference-G;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Reference G gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga ACACACGGCATC CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAacacacggcatcAGATCGAGACCCGACGC chr3:136731632-Reference-G;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative C gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga AGGCTCTGGTCA CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAaggctctggtcaAGATCGAGACCCGACGC chr3:136731632-Alternative-C;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Reference G gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga CTACCATCTCAA CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAActaccatctcaaAGATCGAGACCCGACGC chr3:136731632-Reference-G;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative C gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GCAGTTGTTAAC CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgcagttgttaacAGATCGAGACCCGACGC chr3:136731632-Alternative-C;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Reference G gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga ATCACGTTAACG CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaGtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAatcacgttaacgAGATCGAGACCCGACGC chr3:136731632-Reference-G;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative C gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GTAGGTTCACCG CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgtaggttcaccgAGATCGAGACCCGACGC chr3:136731632-Alternative-C;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Variant A gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GGCGAAGGAGAA CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAggcgaaggagaaAGATCGAGACCCGACGC chr3:136731632-Variant-A;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Variant A gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GTACTCTCACCG CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgtactctcaccgAGATCGAGACCCGACGC chr3:136731632-Variant-A;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative T gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga ACGGTGGACGAT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAacggtggacgatAGATCGAGACCCGACGC chr3:136731632-Alternative-T;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Variant A gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga AAGCAGCGTCCT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAaagcagcgtcctAGATCGAGACCCGACGC chr3:136731632-Variant-A;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative C gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga CTACGTCGTAAC CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAActacgtcgtaacAGATCGAGACCCGACGC chr3:136731632-Alternative-C;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Variant A gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GCCGTGACAAGT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgccgtgacaagtAGATCGAGACCCGACGC chr3:136731632-Variant-A;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative T gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga GCATGACGGAAC CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAgcatgacggaacAGATCGAGACCCGACGC chr3:136731632-Alternative-T;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative T gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga CATATGGCTCTT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAcatatggctcttAGATCGAGACCCGACGC chr3:136731632-Alternative-T;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative C gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga ATAGCCTTCGTT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaCtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAatagccttcgttAGATCGAGACCCGACGC chr3:136731632-Alternative-C;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Variant A gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga AGCTCGTTGTAA CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaAtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAagctcgttgtaaAGATCGAGACCCGACGC chr3:136731632-Variant-A;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative T gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga AGAAGAGATGGT CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAagaagagatggtAGATCGAGACCCGACGC chr3:136731632-Alternative-T;Patient-97 chr3:136731632-GA DeNovo Patient-97 intergenic NA 0.000976 0.29 7.07 1.56 IL20RB 54924 Alternative T gtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatga CAGATACGCCAC CGACGCGGTCTCTCTCTgtgaattatttagtatattgggagtttgtaagtcacggtaaaatgaaaaaTtagagcagaaaacgggggctgggggcaggttgcagcctcttcaaaatgaAGAGGGAGACGGACGTCTCAATAAcagatacgccacAGATCGAGACCCGACGC chr3:136731632-Alternative-T;Patient-97 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Variant G tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ACCGATGCTATA CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAaccgatgctataAGATCGAGACCCGACGC chr3:138476443-Variant-G;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative T tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CACTTCGGCTGT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAcacttcggctgtAGATCGAGACCCGACGC chr3:138476443-Alternative-T;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Variant G tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CAAGCTGTGTGC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAcaagctgtgtgcAGATCGAGACCCGACGC chr3:138476443-Variant-G;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Variant G tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CTAGCGATCCAT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAActagcgatccatAGATCGAGACCCGACGC chr3:138476443-Variant-G;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Variant G tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagag GATCACCAAGCG CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAgatcaccaagcgAGATCGAGACCCGACGC chr3:138476443-Variant-G;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Variant G tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagag AGAATGCGCGCT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaGaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAagaatgcgcgctAGATCGAGACCCGACGC chr3:138476443-Variant-G;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative T tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagag AACACGACGTCC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAaacacgacgtccAGATCGAGACCCGACGC chr3:138476443-Alternative-T;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative T tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CTCTTAGTGACT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAActcttagtgactAGATCGAGACCCGACGC chr3:138476443-Alternative-T;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative T tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ACGCCTAGTGGT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAacgcctagtggtAGATCGAGACCCGACGC chr3:138476443-Alternative-T;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative T tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CGGCGAGTTCAT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaTaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAcggcgagttcatAGATCGAGACCCGACGC chr3:138476443-Alternative-T;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Reference A tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagag GTAAGAGTATGC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAgtaagagtatgcAGATCGAGACCCGACGC chr3:138476443-Reference-A;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Reference A tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ATTGATCTCACG CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAattgatctcacgAGATCGAGACCCGACGC chr3:138476443-Reference-A;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Reference A tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagag GCGTTGACATAT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAgcgttgacatatAGATCGAGACCCGACGC chr3:138476443-Reference-A;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Reference A tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagag AGGAACGAACTT CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAaggaacgaacttAGATCGAGACCCGACGC chr3:138476443-Reference-A;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative C tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagag CAACCTATGTCA CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAcaacctatgtcaAGATCGAGACCCGACGC chr3:138476443-Alternative-C;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative C tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagag GTGAACAACCGC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAgtgaacaaccgcAGATCGAGACCCGACGC chr3:138476443-Alternative-C;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative C tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ACTAGGTGGAAC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAactaggtggaacAGATCGAGACCCGACGC chr3:138476443-Alternative-C;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Reference A tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagag AAGTTCAATCGC CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaAaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAaagttcaatcgcAGATCGAGACCCGACGC chr3:138476443-Reference-A;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative C tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ATTGCGGTTCTA CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAattgcggttctaAGATCGAGACCCGACGC chr3:138476443-Alternative-C;Patient-37 chr3:138476443-AG DeNovo Patient-37 intronic PIK3CB 9.8e-05 4.95e-05 0.8 11.89 0 PIK3CB 1757 Alternative C tagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagag ACTTATTACGCG CGACGCGGTCTCTCTCTtagacaaacaaaaaaaggaaagaaataatgtaagaaaagaggaaggaagaCaggaaggaagaagggagggagggagagaggggaggggaagggaggagagAGAGGGAGACGGACGTCTCAATAAacttattacgcgAGATCGAGACCCGACGC chr3:138476443-Alternative-C;Patient-37 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Variant A ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctct GCAATCGAGTTA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAgcaatcgagttaAGATCGAGACCCGACGC chr3:13903531-Variant-A;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative C ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctct CGTTCGAACGAC CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAcgttcgaacgacAGATCGAGACCCGACGC chr3:13903531-Alternative-C;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Variant A ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctct ATAAGACGACAC CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAataagacgacacAGATCGAGACCCGACGC chr3:13903531-Variant-A;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative C ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctct AGTCGAACACCG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAagtcgaacaccgAGATCGAGACCCGACGC chr3:13903531-Alternative-C;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative T ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctct AACGTTCCGTGG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAaacgttccgtggAGATCGAGACCCGACGC chr3:13903531-Alternative-T;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative T ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctct AGAGCTCTAAGA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAagagctctaagaAGATCGAGACCCGACGC chr3:13903531-Alternative-T;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative T ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctct CGACTTATGTGA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAcgacttatgtgaAGATCGAGACCCGACGC chr3:13903531-Alternative-T;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative T ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctct CTAGATAGCGCG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAActagatagcgcgAGATCGAGACCCGACGC chr3:13903531-Alternative-T;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Variant A ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctct ACGAGTATTGTC CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAacgagtattgtcAGATCGAGACCCGACGC chr3:13903531-Variant-A;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Variant A ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctct ACTACAACGTGT CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAactacaacgtgtAGATCGAGACCCGACGC chr3:13903531-Variant-A;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Variant A ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctct GGTATGTCATCA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctAtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAggtatgtcatcaAGATCGAGACCCGACGC chr3:13903531-Variant-A;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative C ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctct GGACCGTCGATA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAggaccgtcgataAGATCGAGACCCGACGC chr3:13903531-Alternative-C;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative C ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctct CTTATCTCCGAA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAActtatctccgaaAGATCGAGACCCGACGC chr3:13903531-Alternative-C;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative T ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctct GCGATGTAGTCG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctTtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAgcgatgtagtcgAGATCGAGACCCGACGC chr3:13903531-Alternative-T;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Reference G ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctct ATTGCGACGTAA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAattgcgacgtaaAGATCGAGACCCGACGC chr3:13903531-Reference-G;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Alternative C ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctct GTCCGCTAGAAG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctCtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAgtccgctagaagAGATCGAGACCCGACGC chr3:13903531-Alternative-C;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Reference G ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctct GTACACAGGTGG CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAgtacacaggtggAGATCGAGACCCGACGC chr3:13903531-Reference-G;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Reference G ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctct CTCATTCCGCGT CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAActcattccgcgtAGATCGAGACCCGACGC chr3:13903531-Reference-G;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Reference G ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctct GACTGTCTAACA CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAgactgtctaacaAGATCGAGACCCGACGC chr3:13903531-Reference-G;Patient-55 chr3:13903531-GA Inherited Patient-55 intronic WNT7A NA 4.19e-05 -0.09 1.54 -0.24 WNT7A 18086 Reference G ggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctct ACCTATCGGAGT CGACGCGGTCTCTCTCTggtgacttcagctcagaactcagataagacaaaacccgtcagtccctcctGtctacttctcattcactgggggagccccaagcaaggactctgcctctctAGAGGGAGACGGACGTCTCAATAAacctatcggagtAGATCGAGACCCGACGC chr3:13903531-Reference-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative G catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GGCGGTACTTGT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAggcggtacttgtAGATCGAGACCCGACGC chr3:13926682-Alternative-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative G catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg AAGTTCGCTGTT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAaagttcgctgttAGATCGAGACCCGACGC chr3:13926682-Alternative-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative G catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ATAGGTCGTATC CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAataggtcgtatcAGATCGAGACCCGACGC chr3:13926682-Alternative-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Reference T catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GCCGTGGTATCA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgccgtggtatcaAGATCGAGACCCGACGC chr3:13926682-Reference-T;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Reference T catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ACACTAGCGAAT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAacactagcgaatAGATCGAGACCCGACGC chr3:13926682-Reference-T;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Reference T catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GGTTCGTTGTTA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAggttcgttgttaAGATCGAGACCCGACGC chr3:13926682-Reference-T;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative G catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg CAGCATACGCGT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAcagcatacgcgtAGATCGAGACCCGACGC chr3:13926682-Alternative-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Reference T catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GCAGCTATTGCG CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgcagctattgcgAGATCGAGACCCGACGC chr3:13926682-Reference-T;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Variant A catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ACTGCTACGTGG CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAactgctacgtggAGATCGAGACCCGACGC chr3:13926682-Variant-A;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Variant A catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GTAGCTTGTAGA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgtagcttgtagaAGATCGAGACCCGACGC chr3:13926682-Variant-A;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative G catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg CATAGACGTCTA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaGggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAcatagacgtctaAGATCGAGACCCGACGC chr3:13926682-Alternative-G;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Reference T catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg CGTGCGAAGCAT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaTggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAcgtgcgaagcatAGATCGAGACCCGACGC chr3:13926682-Reference-T;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Variant A catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ACGTCGACTTGA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAacgtcgacttgaAGATCGAGACCCGACGC chr3:13926682-Variant-A;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative C catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GTCATAGTGCGC CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgtcatagtgcgcAGATCGAGACCCGACGC chr3:13926682-Alternative-C;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative C catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GACGGCAATCGT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgacggcaatcgtAGATCGAGACCCGACGC chr3:13926682-Alternative-C;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Variant A catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GGTTGAACGTGG CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAggttgaacgtggAGATCGAGACCCGACGC chr3:13926682-Variant-A;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Variant A catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ATAGACGACGCG CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaAggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAatagacgacgcgAGATCGAGACCCGACGC chr3:13926682-Variant-A;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative C catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg ACAGCTCTAGGT CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAacagctctaggtAGATCGAGACCCGACGC chr3:13926682-Alternative-C;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative C catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg GACAAGCGGACA CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAgacaagcggacaAGATCGAGACCCGACGC chr3:13926682-Alternative-C;Patient-55 chr3:13926682-TA Inherited Patient-55 intergenic 0.00035 0.000513 -0.13 1.17 -2.08 WNT7A 5063 Alternative C catctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttg AGGACTTCTCGG CGACGCGGTCTCTCTCTcatctctgtctccagcacccaggacagggctttcatcaacatgaggaccaCggtttggtaaaaagagttcagacttttgggtcagataggtctgagtttgAGAGGGAGACGGACGTCTCAATAAaggacttctcggAGATCGAGACCCGACGC chr3:13926682-Alternative-C;Patient-55 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative C agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg ATATGTGCACAC CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAatatgtgcacacAGATCGAGACCCGACGC chr3:141227387-Alternative-C;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Variant G agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg ACTCGTAAGAAG CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAactcgtaagaagAGATCGAGACCCGACGC chr3:141227387-Variant-G;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Variant G agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CTTGTTGCTAGA CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAActtgttgctagaAGATCGAGACCCGACGC chr3:141227387-Variant-G;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Variant G agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CATCGACATCGC CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcatcgacatcgcAGATCGAGACCCGACGC chr3:141227387-Variant-G;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Variant G agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CGATTGGAGCCA CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcgattggagccaAGATCGAGACCCGACGC chr3:141227387-Variant-G;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative C agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GACATTGTTACG CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAgacattgttacgAGATCGAGACCCGACGC chr3:141227387-Alternative-C;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Reference T agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CGAACGTGCAAG CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcgaacgtgcaagAGATCGAGACCCGACGC chr3:141227387-Reference-T;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Reference T agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg ATCATACAGTCG CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAatcatacagtcgAGATCGAGACCCGACGC chr3:141227387-Reference-T;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Variant G agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GCGGTCAATTGC CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaGtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAgcggtcaattgcAGATCGAGACCCGACGC chr3:141227387-Variant-G;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Reference T agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CATCTACGCGCA CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcatctacgcgcaAGATCGAGACCCGACGC chr3:141227387-Reference-T;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Reference T agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg ACAAGCGCAACC CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAacaagcgcaaccAGATCGAGACCCGACGC chr3:141227387-Reference-T;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative A agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GGTTACCTCGAT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAggttacctcgatAGATCGAGACCCGACGC chr3:141227387-Alternative-A;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative A agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GCAAGATCGGAT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAgcaagatcggatAGATCGAGACCCGACGC chr3:141227387-Alternative-A;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative C agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg ATCATGTCGTCT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAatcatgtcgtctAGATCGAGACCCGACGC chr3:141227387-Alternative-C;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative C agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg AGCCGAACCGTT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAagccgaaccgttAGATCGAGACCCGACGC chr3:141227387-Alternative-C;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Reference T agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CACACGGCCAAT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaTtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcacacggccaatAGATCGAGACCCGACGC chr3:141227387-Reference-T;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative A agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GGTTCGCGTACT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAggttcgcgtactAGATCGAGACCCGACGC chr3:141227387-Alternative-A;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative A agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg GCGTCTAATCGG CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAgcgtctaatcggAGATCGAGACCCGACGC chr3:141227387-Alternative-A;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative A agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg CATAGCCGCGAA CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaAtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAcatagccgcgaaAGATCGAGACCCGACGC chr3:141227387-Alternative-A;Patient-86 chr3:141227387-TG DeNovo Patient-86 intronic RASA2 NA 4.95e-05 0.52 9.54 0.5 RASA2 21495 Alternative C agcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctgg AAGGCTGACGGT CGACGCGGTCTCTCTCTagcctcccaagtagctgggaccacaggcatgcaccaccacgcctggctaaCtttttgtatttttagtagagatgagatctcaccatgttgccaaggctggAGAGGGAGACGGACGTCTCAATAAaaggctgacggtAGATCGAGACCCGACGC chr3:141227387-Alternative-C;Patient-86 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Variant C gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt ATAGGCGAGCAA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAataggcgagcaaAGATCGAGACCCGACGC chr3:141568526-Variant-C;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Variant C gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt CGGCCTGGATAA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAcggcctggataaAGATCGAGACCCGACGC chr3:141568526-Variant-C;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Variant C gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt AAGATGTGTGCA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAaagatgtgtgcaAGATCGAGACCCGACGC chr3:141568526-Variant-C;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative T gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GACGGCATTGAG CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgacggcattgagAGATCGAGACCCGACGC chr3:141568526-Alternative-T;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative G gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt AGCGTACACAAC CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAagcgtacacaacAGATCGAGACCCGACGC chr3:141568526-Alternative-G;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative G gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GACCTGCGAATC CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgacctgcgaatcAGATCGAGACCCGACGC chr3:141568526-Alternative-G;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative T gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt CTCATGTCTCGG CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAActcatgtctcggAGATCGAGACCCGACGC chr3:141568526-Alternative-T;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative G gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GAGATACGAATC CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgagatacgaatcAGATCGAGACCCGACGC chr3:141568526-Alternative-G;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative G gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GCAGCGGTTAAG CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgcagcggttaagAGATCGAGACCCGACGC chr3:141568526-Alternative-G;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative T gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GGCTATCGATCG CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAggctatcgatcgAGATCGAGACCCGACGC chr3:141568526-Alternative-T;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative T gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt CTTAGACGTCCT CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAActtagacgtcctAGATCGAGACCCGACGC chr3:141568526-Alternative-T;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Reference A gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt ACGTTGTTGGAT CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAacgttgttggatAGATCGAGACCCGACGC chr3:141568526-Reference-A;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative G gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GTTCTGCGGACA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtGttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgttctgcggacaAGATCGAGACCCGACGC chr3:141568526-Alternative-G;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Reference A gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GGATGTCGAATA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAggatgtcgaataAGATCGAGACCCGACGC chr3:141568526-Reference-A;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Variant C gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt ACGTATGTTCGT CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAacgtatgttcgtAGATCGAGACCCGACGC chr3:141568526-Variant-C;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Alternative T gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt AGTACCTACCTT CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtTttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAagtacctaccttAGATCGAGACCCGACGC chr3:141568526-Alternative-T;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Reference A gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt CTCAACCTACTA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAActcaacctactaAGATCGAGACCCGACGC chr3:141568526-Reference-A;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Reference A gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GTTCGCACTCGT CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgttcgcactcgtAGATCGAGACCCGACGC chr3:141568526-Reference-A;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Reference A gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt GAGACTGGATCG CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtAttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAgagactggatcgAGATCGAGACCCGACGC chr3:141568526-Reference-A;Patient-79 chr3:141568526-AC DeNovo Patient-79 intergenic 0.00051 0.000513 0.44 8.83 1.03 ATP1B3 26943 Variant C gctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggatt AGATCACAACGA CGACGCGGTCTCTCTCTgctgacgggcaaggaggagggtggggccgacacatgactacaattgcagtCttagaagaaaggagctgaaaatatagcaggccaggagagaaggaggattAGAGGGAGACGGACGTCTCAATAAagatcacaacgaAGATCGAGACCCGACGC chr3:141568526-Variant-C;Patient-79 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Variant G aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GTCGTGTGCTTC CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgtcgtgtgcttcAGATCGAGACCCGACGC chr3:141791549-Variant-G;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative T aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GTAATGAAGCCA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgtaatgaagccaAGATCGAGACCCGACGC chr3:141791549-Alternative-T;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative T aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc ACGCGTGTACGA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAacgcgtgtacgaAGATCGAGACCCGACGC chr3:141791549-Alternative-T;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Reference A aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GGTGCGGTAGTT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAggtgcggtagttAGATCGAGACCCGACGC chr3:141791549-Reference-A;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative T aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GCGCATTCTGCT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgcgcattctgctAGATCGAGACCCGACGC chr3:141791549-Alternative-T;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative T aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc AAGTACGCAGTT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAaagtacgcagttAGATCGAGACCCGACGC chr3:141791549-Alternative-T;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Reference A aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc AGGCGCTTAACC CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAaggcgcttaaccAGATCGAGACCCGACGC chr3:141791549-Reference-A;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative T aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc AGTACTATACGC CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccTtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAagtactatacgcAGATCGAGACCCGACGC chr3:141791549-Alternative-T;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Variant G aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc CAAGTATACGCT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAcaagtatacgctAGATCGAGACCCGACGC chr3:141791549-Variant-G;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Variant G aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc ACCTACCTGTGC CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAacctacctgtgcAGATCGAGACCCGACGC chr3:141791549-Variant-G;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Reference A aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc CGAGAGTAACCT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAcgagagtaacctAGATCGAGACCCGACGC chr3:141791549-Reference-A;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative C aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GCGTATGAGTGG CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgcgtatgagtggAGATCGAGACCCGACGC chr3:141791549-Alternative-C;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Reference A aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc AATGAGGCCTTA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAaatgaggccttaAGATCGAGACCCGACGC chr3:141791549-Reference-A;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative C aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc ACCGTTGTGTAA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAaccgttgtgtaaAGATCGAGACCCGACGC chr3:141791549-Alternative-C;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Variant G aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GATGGAGTGGAG CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgatggagtggagAGATCGAGACCCGACGC chr3:141791549-Variant-G;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative C aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GCGGTACTGAAC CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgcggtactgaacAGATCGAGACCCGACGC chr3:141791549-Alternative-C;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Variant G aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc AGTACACCGGTT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccGtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAagtacaccggttAGATCGAGACCCGACGC chr3:141791549-Variant-G;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative C aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc CAGGTACTAACT CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAcaggtactaactAGATCGAGACCCGACGC chr3:141791549-Alternative-C;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Reference A aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc ACGAATATGCGA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccAtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAacgaatatgcgaAGATCGAGACCCGACGC chr3:141791549-Reference-A;Patient-61 chr3:141791549-AG Inherited Patient-61 intronic TFDP2 NA 4.95e-05 -0.25 0.5 -0.24 TFDP2 76836 Alternative C aggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataaccc GCAGCTGGTAGA CGACGCGGTCTCTCTCTaggatgtgtccaagggacacggaaaccaactgaaagagcttccaatggccCtatctggaaatgtgagcaagaaaataaaagtagtattggattataacccAGAGGGAGACGGACGTCTCAATAAgcagctggtagaAGATCGAGACCCGACGC chr3:141791549-Alternative-C;Patient-61 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative T tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccct ATTCTGTCGACT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAattctgtcgactAGATCGAGACCCGACGC chr3:141839660-Alternative-T;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative T tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccct GAGTCTAGCCGA CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAgagtctagccgaAGATCGAGACCCGACGC chr3:141839660-Alternative-T;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative T tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccct AACTAGCTCACA CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAaactagctcacaAGATCGAGACCCGACGC chr3:141839660-Alternative-T;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative T tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccct AAGATCATTCGC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAaagatcattcgcAGATCGAGACCCGACGC chr3:141839660-Alternative-T;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative G tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccct AGAACCTCGTGC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAagaacctcgtgcAGATCGAGACCCGACGC chr3:141839660-Alternative-G;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative G tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccct CATAGGTTACAC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAcataggttacacAGATCGAGACCCGACGC chr3:141839660-Alternative-G;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Variant A tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccct CTTACGCGGTCT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAActtacgcggtctAGATCGAGACCCGACGC chr3:141839660-Variant-A;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative G tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccct CATTGGAGCGAA CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAcattggagcgaaAGATCGAGACCCGACGC chr3:141839660-Alternative-G;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Variant A tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccct GTCGTTAGCACG CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAgtcgttagcacgAGATCGAGACCCGACGC chr3:141839660-Variant-A;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Variant A tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccct AGAGGTAGGTGG CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAagaggtaggtggAGATCGAGACCCGACGC chr3:141839660-Variant-A;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Reference C tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccct CTCACGTGCATC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAActcacgtgcatcAGATCGAGACCCGACGC chr3:141839660-Reference-C;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative T tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccct CAACTCCTACGT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacTactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAcaactcctacgtAGATCGAGACCCGACGC chr3:141839660-Alternative-T;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Variant A tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccct AGCTTGTAACAC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAagcttgtaacacAGATCGAGACCCGACGC chr3:141839660-Variant-A;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Variant A tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccct GTCCGTCGATGA CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacAactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAgtccgtcgatgaAGATCGAGACCCGACGC chr3:141839660-Variant-A;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative G tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccct CTACGTTCACAT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAActacgttcacatAGATCGAGACCCGACGC chr3:141839660-Alternative-G;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Reference C tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccct GACAAGTTCGCG CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAgacaagttcgcgAGATCGAGACCCGACGC chr3:141839660-Reference-C;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Reference C tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccct CAGACGGCATTC CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAcagacggcattcAGATCGAGACCCGACGC chr3:141839660-Reference-C;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Reference C tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccct CGATGACCGGAT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAcgatgaccggatAGATCGAGACCCGACGC chr3:141839660-Reference-C;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Alternative G tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccct GTCGCTTCAATT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacGactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAgtcgcttcaattAGATCGAGACCCGACGC chr3:141839660-Alternative-G;Patient-25 chr3:141839660-CA Inherited Patient-25 intronic TFDP2 NA 0.00016 0.59 10.21 -0.9 TFDP2 28725 Reference C tgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccct AGGCTTGCATAT CGACGCGGTCTCTCTCTtgaaggggtttctgatgcctcacccaagcagctgcagtgatgggaacaacCactgttcataaccccatggcactattcattcactgtgcatataacccctAGAGGGAGACGGACGTCTCAATAAaggcttgcatatAGATCGAGACCCGACGC chr3:141839660-Reference-C;Patient-25 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative T tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ACGCGAACCTTA CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacgcgaaccttaAGATCGAGACCCGACGC chr3:141981677-Alternative-T;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative T tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ACAAGCTACCAT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacaagctaccatAGATCGAGACCCGACGC chr3:141981677-Alternative-T;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Reference G tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct GAATGGATAGCG CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgaatggatagcgAGATCGAGACCCGACGC chr3:141981677-Reference-G;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Reference G tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ACAACCAATGCT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacaaccaatgctAGATCGAGACCCGACGC chr3:141981677-Reference-G;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Reference G tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AATGAAGTCCGA CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaatgaagtccgaAGATCGAGACCCGACGC chr3:141981677-Reference-G;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Reference G tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AAGAATGCGAAG CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaagaatgcgaagAGATCGAGACCCGACGC chr3:141981677-Reference-G;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Reference G tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AACTCGTCCGGT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccGggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaactcgtccggtAGATCGAGACCCGACGC chr3:141981677-Reference-G;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative C tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ATAAGCGAGTCT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAataagcgagtctAGATCGAGACCCGACGC chr3:141981677-Alternative-C;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Variant A tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct GATCATTACGCA CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgatcattacgcaAGATCGAGACCCGACGC chr3:141981677-Variant-A;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Variant A tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct GCGGATTACGAG CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgcggattacgagAGATCGAGACCCGACGC chr3:141981677-Variant-A;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Variant A tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ATCGAGTGGCGT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAatcgagtggcgtAGATCGAGACCCGACGC chr3:141981677-Variant-A;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Variant A tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AGCAATGCGTGC CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAagcaatgcgtgcAGATCGAGACCCGACGC chr3:141981677-Variant-A;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative T tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct CTGTCGCATGCT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAActgtcgcatgctAGATCGAGACCCGACGC chr3:141981677-Alternative-T;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative T tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct CGTACCAGATGG CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAcgtaccagatggAGATCGAGACCCGACGC chr3:141981677-Alternative-T;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative T tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct GTCGTGGAACAG CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccTggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAgtcgtggaacagAGATCGAGACCCGACGC chr3:141981677-Alternative-T;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Variant A tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AGTGACTCTGGT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccAggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAagtgactctggtAGATCGAGACCCGACGC chr3:141981677-Variant-A;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative C tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AACCGGCGTGTT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaaccggcgtgttAGATCGAGACCCGACGC chr3:141981677-Alternative-C;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative C tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct AGGTTAGTTGCT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAaggttagttgctAGATCGAGACCCGACGC chr3:141981677-Alternative-C;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative C tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct ACGTTAAGACGA CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAacgttaagacgaAGATCGAGACCCGACGC chr3:141981677-Alternative-C;Patient-30 chr3:141981677-GA Inherited Patient-30 intergenic 0.000714 0.00103 NA NA NA GK5 37227 Alternative C tgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcct CGCTGTGCGTAT CGACGCGGTCTCTCTCTtgtaaatcccagctactcaggaggttgaggcaggagaattgcttgaatccCggaggcggaggctgcagtaagcaaagatttcaccactgcactccagcctAGAGGGAGACGGACGTCTCAATAAcgctgtgcgtatAGATCGAGACCCGACGC chr3:141981677-Alternative-C;Patient-30 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Variant G gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa AGCGGCATTGAG CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAagcggcattgagAGATCGAGACCCGACGC chr3:142770964-Variant-G;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Reference C gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GTCGGAATCGGT CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgtcggaatcggtAGATCGAGACCCGACGC chr3:142770964-Reference-C;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Variant G gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa ATTCGGTAGGTT CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAattcggtaggttAGATCGAGACCCGACGC chr3:142770964-Variant-G;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Variant G gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa CGTTCATAGCGG CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAcgttcatagcggAGATCGAGACCCGACGC chr3:142770964-Variant-G;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Reference C gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa CATCGCGCACTA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAcatcgcgcactaAGATCGAGACCCGACGC chr3:142770964-Reference-C;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Variant G gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa CTCTAACTACAC CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAActctaactacacAGATCGAGACCCGACGC chr3:142770964-Variant-G;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Variant G gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GGAGTATGGTTA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctGacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAggagtatggttaAGATCGAGACCCGACGC chr3:142770964-Variant-G;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative T gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GTTGAACGCGAG CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgttgaacgcgagAGATCGAGACCCGACGC chr3:142770964-Alternative-T;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative T gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GACTAGACAACA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgactagacaacaAGATCGAGACCCGACGC chr3:142770964-Alternative-T;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative T gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa AGCTTGGTGGAG CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAagcttggtggagAGATCGAGACCCGACGC chr3:142770964-Alternative-T;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative A gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa AGATACGGCGAC CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAagatacggcgacAGATCGAGACCCGACGC chr3:142770964-Alternative-A;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Reference C gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa CTCTTAGTGCTA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAActcttagtgctaAGATCGAGACCCGACGC chr3:142770964-Reference-C;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative A gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa AAGTGCGCTACG CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAaagtgcgctacgAGATCGAGACCCGACGC chr3:142770964-Alternative-A;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative A gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa CTCAACGTCGAA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAActcaacgtcgaaAGATCGAGACCCGACGC chr3:142770964-Alternative-A;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative T gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa AATCTGGATCCA CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAaatctggatccaAGATCGAGACCCGACGC chr3:142770964-Alternative-T;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative T gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GACGATGCGACT CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctTacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgacgatgcgactAGATCGAGACCCGACGC chr3:142770964-Alternative-T;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative A gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GTTGTTATGCCT CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgttgttatgcctAGATCGAGACCCGACGC chr3:142770964-Alternative-A;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Reference C gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa GTGCGATCCTAC CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAgtgcgatcctacAGATCGAGACCCGACGC chr3:142770964-Reference-C;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Alternative A gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa ATACCATCTACC CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctAacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAataccatctaccAGATCGAGACCCGACGC chr3:142770964-Alternative-A;Patient-71 chr3:142770964-CG DeNovo Patient-71 intronic U2SURP NA 9.9e-05 -0.12 1.26 0.43 U2SURP 50591 Reference C gataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaa ACTAGCGACCAT CGACGCGGTCTCTCTCTgataaatgagattttgtaaaagatgctacttatggctgggcgcagttgctCacgcctgtaatcccagcacttcgggaggccgggcaatcacctcaggcaaAGAGGGAGACGGACGTCTCAATAAactagcgaccatAGATCGAGACCCGACGC chr3:142770964-Reference-C;Patient-71 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative T tcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagat GACCGTGTAGCT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgaccgtgtagctAGATCGAGACCCGACGC chr3:143648179-Alternative-T;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative T tcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagat GTGATCCTACTT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgtgatcctacttAGATCGAGACCCGACGC chr3:143648179-Alternative-T;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative C tcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagat CTTAGTGGCTTA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAActtagtggcttaAGATCGAGACCCGACGC chr3:143648179-Alternative-C;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative C tcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagat AGGAACTCATCG CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAaggaactcatcgAGATCGAGACCCGACGC chr3:143648179-Alternative-C;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Reference A tcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagat AAGCAAGCAGCT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAaagcaagcagctAGATCGAGACCCGACGC chr3:143648179-Reference-A;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Reference A tcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagat GCGGAAGTGACA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgcggaagtgacaAGATCGAGACCCGACGC chr3:143648179-Reference-A;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative T tcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagat GGCTTCTACAGG CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAggcttctacaggAGATCGAGACCCGACGC chr3:143648179-Alternative-T;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Variant G tcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagat ACGGTACCTGCA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAacggtacctgcaAGATCGAGACCCGACGC chr3:143648179-Variant-G;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative C tcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagat GCCAATTCCGAC CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgccaattccgacAGATCGAGACCCGACGC chr3:143648179-Alternative-C;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Reference A tcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagat CAGCATCCATAA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAcagcatccataaAGATCGAGACCCGACGC chr3:143648179-Reference-A;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Reference A tcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagat ACTTATCCTGCA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAacttatcctgcaAGATCGAGACCCGACGC chr3:143648179-Reference-A;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Reference A tcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagat ACCTGTTGTATC CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagAtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAacctgttgtatcAGATCGAGACCCGACGC chr3:143648179-Reference-A;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative T tcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagat GCACGAACGCTT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgcacgaacgcttAGATCGAGACCCGACGC chr3:143648179-Alternative-T;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Variant G tcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagat CGAATCGTCAGT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAcgaatcgtcagtAGATCGAGACCCGACGC chr3:143648179-Variant-G;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative T tcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagat GTACTCGTTAAC CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagTtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAgtactcgttaacAGATCGAGACCCGACGC chr3:143648179-Alternative-T;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Variant G tcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagat AGATGTGCAACA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAagatgtgcaacaAGATCGAGACCCGACGC chr3:143648179-Variant-G;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Variant G tcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagat CAACTGAGGCGT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAcaactgaggcgtAGATCGAGACCCGACGC chr3:143648179-Variant-G;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Variant G tcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagat AAGGCTTCTTGT CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagGtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAaaggcttcttgtAGATCGAGACCCGACGC chr3:143648179-Variant-G;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative C tcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagat AGAGTTGATTGC CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAagagttgattgcAGATCGAGACCCGACGC chr3:143648179-Alternative-C;Patient-12 chr3:143648179-AG DeNovo Patient-12 intergenic 6.7e-05 0.000513 NA NA NA C3orf58 42460 Alternative C tcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagat CATGCGCAATTA CGACGCGGTCTCTCTCTtcttattatggaaaccatatagatagatagatagatagatagatagatagCtagatagatagatagatatagatataaatagatatatagatacatagatAGAGGGAGACGGACGTCTCAATAAcatgcgcaattaAGATCGAGACCCGACGC chr3:143648179-Alternative-C;Patient-12 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative T gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg AAGAACGGCTAA CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAaagaacggctaaAGATCGAGACCCGACGC chr3:143649123-Alternative-T;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative T gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GCGCTCTATTCG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgcgctctattcgAGATCGAGACCCGACGC chr3:143649123-Alternative-T;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Reference G gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GATCGGATTCGC CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgatcggattcgcAGATCGAGACCCGACGC chr3:143649123-Reference-G;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Reference G gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ATACGATCAACC CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAatacgatcaaccAGATCGAGACCCGACGC chr3:143649123-Reference-G;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative T gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GATTGCGAGGAC CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgattgcgaggacAGATCGAGACCCGACGC chr3:143649123-Alternative-T;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Reference G gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ACCGATGAAGCG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAaccgatgaagcgAGATCGAGACCCGACGC chr3:143649123-Reference-G;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative T gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg CGCGTGTAATCG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAcgcgtgtaatcgAGATCGAGACCCGACGC chr3:143649123-Alternative-T;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Reference G gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg AACCGTCGAAGG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAaaccgtcgaaggAGATCGAGACCCGACGC chr3:143649123-Reference-G;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative T gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ATCCTGTAACGC CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaTtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAatcctgtaacgcAGATCGAGACCCGACGC chr3:143649123-Alternative-T;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Variant A gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GCGCTCGACTAA CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgcgctcgactaaAGATCGAGACCCGACGC chr3:143649123-Variant-A;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Variant A gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg AGCAAGGCTCCT CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAagcaaggctcctAGATCGAGACCCGACGC chr3:143649123-Variant-A;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Variant A gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg AGCCTTGGTATA CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAagccttggtataAGATCGAGACCCGACGC chr3:143649123-Variant-A;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Reference G gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ATAGATGCAGGT CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaGtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAatagatgcaggtAGATCGAGACCCGACGC chr3:143649123-Reference-G;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Variant A gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GATGATTGGCTT CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgatgattggcttAGATCGAGACCCGACGC chr3:143649123-Variant-A;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative C gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ATCTAGGCGCAG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAatctaggcgcagAGATCGAGACCCGACGC chr3:143649123-Alternative-C;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative C gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg CAGGACGTTGCT CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAcaggacgttgctAGATCGAGACCCGACGC chr3:143649123-Alternative-C;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative C gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GATTGTCGGTTA CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgattgtcggttaAGATCGAGACCCGACGC chr3:143649123-Alternative-C;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Variant A gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg GCGTTCACAATA CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaAtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAgcgttcacaataAGATCGAGACCCGACGC chr3:143649123-Variant-A;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative C gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg ATACTAATGCCG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAatactaatgccgAGATCGAGACCCGACGC chr3:143649123-Alternative-C;Patient-22 chr3:143649123-GA Inherited Patient-22 intergenic NA 0.000513 -0.1 1.4 -0.47 C3orf58 41516 Alternative C gcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctg CAACAGCAATCG CGACGCGGTCTCTCTCTgcggaaagcatccagcgtgggagaaagacgaaagccagaagactcagcaaCtctgctcttcccaacttctgcctgctttattctattgcatcggcagctgAGAGGGAGACGGACGTCTCAATAAcaacagcaatcgAGATCGAGACCCGACGC chr3:143649123-Alternative-C;Patient-22 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative G cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg ATCGTCGCATAA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAatcgtcgcataaAGATCGAGACCCGACGC chr3:143689956-Alternative-G;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative G cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AAGATCGAAGCT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAaagatcgaagctAGATCGAGACCCGACGC chr3:143689956-Alternative-G;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative G cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AGTTATGAGTGG CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAagttatgagtggAGATCGAGACCCGACGC chr3:143689956-Alternative-G;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative G cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg GTCGCTACGGAA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAgtcgctacggaaAGATCGAGACCCGACGC chr3:143689956-Alternative-G;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative T cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg ATCGACGAGCGT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAatcgacgagcgtAGATCGAGACCCGACGC chr3:143689956-Alternative-T;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative T cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg CAAGCGTTGCGA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAcaagcgttgcgaAGATCGAGACCCGACGC chr3:143689956-Alternative-T;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative T cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg GTAGTAAGAGCT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAgtagtaagagctAGATCGAGACCCGACGC chr3:143689956-Alternative-T;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative T cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AACGCAACTATC CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAaacgcaactatcAGATCGAGACCCGACGC chr3:143689956-Alternative-T;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative G cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg CATCTATCAGCT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagGctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAcatctatcagctAGATCGAGACCCGACGC chr3:143689956-Alternative-G;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Variant A cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AAGTCTCGCACA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAaagtctcgcacaAGATCGAGACCCGACGC chr3:143689956-Variant-A;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Variant A cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg GTTGATGCTCTT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAgttgatgctcttAGATCGAGACCCGACGC chr3:143689956-Variant-A;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Alternative T cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg ACTGTGCAGTAT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagTctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAactgtgcagtatAGATCGAGACCCGACGC chr3:143689956-Alternative-T;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Variant A cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AACGCGTCGTCT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAaacgcgtcgtctAGATCGAGACCCGACGC chr3:143689956-Variant-A;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Variant A cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg CGCGGAGCATAA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAcgcggagcataaAGATCGAGACCCGACGC chr3:143689956-Variant-A;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Reference C cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg ACAACGGAGTCG CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAacaacggagtcgAGATCGAGACCCGACGC chr3:143689956-Reference-C;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Reference C cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg AGCCGTACCAAG CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAagccgtaccaagAGATCGAGACCCGACGC chr3:143689956-Reference-C;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Reference C cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg CTGAACGTGTTA CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAActgaacgtgttaAGATCGAGACCCGACGC chr3:143689956-Reference-C;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Reference C cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg ACTGGTTACAGT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAactggttacagtAGATCGAGACCCGACGC chr3:143689956-Reference-C;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Reference C cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg GTATCTGACGAT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagCctggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAgtatctgacgatAGATCGAGACCCGACGC chr3:143689956-Reference-C;Patient-56 chr3:143689956-CA DeNovo Patient-56 intergenic NA 0.000512821 0.35 7.82 0.58 C3orf58 683 Variant A cgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctg CGGACGGACATT CGACGCGGTCTCTCTCTcgcagggctccggggacgggctagggcagccggcgggcagcagaggcaagActggcaaactcttcccggcttcttcgcggcgcttggggcagacgtcctgAGAGGGAGACGGACGTCTCAATAAcggacggacattAGATCGAGACCCGACGC chr3:143689956-Variant-A;Patient-56 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative A aattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagcca ACCGTAGAGTAA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAaccgtagagtaaAGATCGAGACCCGACGC chr3:148798498-Alternative-A;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative A aattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagcca CTTAAGGCTGCG CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAActtaaggctgcgAGATCGAGACCCGACGC chr3:148798498-Alternative-A;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Variant T aattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGTGTGGTTCGA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcgtgtggttcgaAGATCGAGACCCGACGC chr3:148798498-Variant-T;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Variant T aattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagcca CTAATGTGGTCA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAActaatgtggtcaAGATCGAGACCCGACGC chr3:148798498-Variant-T;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative A aattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagcca ACGTTACTACAC CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAacgttactacacAGATCGAGACCCGACGC chr3:148798498-Alternative-A;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Variant T aattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGATAATGACGA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcgataatgacgaAGATCGAGACCCGACGC chr3:148798498-Variant-T;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Variant T aattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagcca GTGATATGCCAA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAgtgatatgccaaAGATCGAGACCCGACGC chr3:148798498-Variant-T;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative G aattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagcca ACCACACCGGTT CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAaccacaccggttAGATCGAGACCCGACGC chr3:148798498-Alternative-G;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative G aattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGAACATCAAGG CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcgaacatcaaggAGATCGAGACCCGACGC chr3:148798498-Alternative-G;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative A aattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagcca GTTAGCGAGTGG CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAgttagcgagtggAGATCGAGACCCGACGC chr3:148798498-Alternative-A;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative A aattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGGCAATCATAC CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtAgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcggcaatcatacAGATCGAGACCCGACGC chr3:148798498-Alternative-A;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Variant T aattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagcca AAGTTACGCCTA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtTgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAaagttacgcctaAGATCGAGACCCGACGC chr3:148798498-Variant-T;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative G aattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagcca CAGCGGAGCATA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcagcggagcataAGATCGAGACCCGACGC chr3:148798498-Alternative-G;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative G aattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGATTATGGCGA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcgattatggcgaAGATCGAGACCCGACGC chr3:148798498-Alternative-G;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Alternative G aattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagcca GTGAATCGTATC CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtGgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAgtgaatcgtatcAGATCGAGACCCGACGC chr3:148798498-Alternative-G;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Reference C aattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagcca CTAGCCTACGAC CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAActagcctacgacAGATCGAGACCCGACGC chr3:148798498-Reference-C;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Reference C aattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagcca CAAGACCGCTGA CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcaagaccgctgaAGATCGAGACCCGACGC chr3:148798498-Reference-C;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Reference C aattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagcca AATCGAAGGCCG CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAaatcgaaggccgAGATCGAGACCCGACGC chr3:148798498-Reference-C;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Reference C aattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagcca ACTGGTGTCGGT CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAactggtgtcggtAGATCGAGACCCGACGC chr3:148798498-Reference-C;Patient-32 chr3:148798498-CT DeNovo Patient-32 intronic HLTF 0.000287 4.95e-05 0.02 2.98 0.95 HLTF 5842 Reference C aattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagcca CGCAAGTAACCG CGACGCGGTCTCTCTCTaattgtaatttatcataataagctatcattaattacaattagttaactgtCgttacaaataagtaattactagaattttaaataaaatatatatgagccaAGAGGGAGACGGACGTCTCAATAAcgcaagtaaccgAGATCGAGACCCGACGC chr3:148798498-Reference-C;Patient-32 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Variant T taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CGTGATCAAGCG CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAcgtgatcaagcgAGATCGAGACCCGACGC chr3:149369997-Variant-T;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative A taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa AAGATCCTTGCA CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAaagatccttgcaAGATCGAGACCCGACGC chr3:149369997-Alternative-A;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative A taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa AAGCAGTCGATA CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAaagcagtcgataAGATCGAGACCCGACGC chr3:149369997-Alternative-A;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Reference C taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CTACGTTGCTAT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAActacgttgctatAGATCGAGACCCGACGC chr3:149369997-Reference-C;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Variant T taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa GGATGATGCTAT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAggatgatgctatAGATCGAGACCCGACGC chr3:149369997-Variant-T;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative A taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa ATCGCTGATGTT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAatcgctgatgttAGATCGAGACCCGACGC chr3:149369997-Alternative-A;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative A taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa AAGGACCGAATC CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAaaggaccgaatcAGATCGAGACCCGACGC chr3:149369997-Alternative-A;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Reference C taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CTAGGCGATTAT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAActaggcgattatAGATCGAGACCCGACGC chr3:149369997-Reference-C;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Reference C taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa GTGTTCGAGATT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAgtgttcgagattAGATCGAGACCCGACGC chr3:149369997-Reference-C;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Reference C taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa GTCATATCGGCG CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAgtcatatcggcgAGATCGAGACCCGACGC chr3:149369997-Reference-C;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative A taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CTCTTGCGTTAT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataAaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAActcttgcgttatAGATCGAGACCCGACGC chr3:149369997-Alternative-A;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative G taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa GTATCCGCAGGT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAgtatccgcaggtAGATCGAGACCCGACGC chr3:149369997-Alternative-G;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Reference C taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa GCGGCTTCTTGT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataCaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAgcggcttcttgtAGATCGAGACCCGACGC chr3:149369997-Reference-C;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative G taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CTTATGATGACG CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAActtatgatgacgAGATCGAGACCCGACGC chr3:149369997-Alternative-G;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Variant T taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CAACGTTGTGAT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAcaacgttgtgatAGATCGAGACCCGACGC chr3:149369997-Variant-T;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative G taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa AACAGAGCGTGG CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAaacagagcgtggAGATCGAGACCCGACGC chr3:149369997-Alternative-G;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Variant T taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CAATACAACGGT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAcaatacaacggtAGATCGAGACCCGACGC chr3:149369997-Variant-T;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative G taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CGCTGAATCTTA CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAcgctgaatcttaAGATCGAGACCCGACGC chr3:149369997-Alternative-G;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Alternative G taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa ACTAATCGGCTA CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataGaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAactaatcggctaAGATCGAGACCCGACGC chr3:149369997-Alternative-G;Patient-64 chr3:149369997-CT DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.07 3.84 -5.81 WWTR1 51062 Variant T taagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaa CGCCGACGAATT CGACGCGGTCTCTCTCTtaagaatcatatacgaataagatggtcaactttggggcaaagcacaaataTaggttatgggttcagggctttggcaatgtggaaagcaacattgtcaaaaAGAGGGAGACGGACGTCTCAATAAcgccgacgaattAGATCGAGACCCGACGC chr3:149369997-Variant-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative G tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CACTATCCGCCT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcactatccgcctAGATCGAGACCCGACGC chr3:149370003-Alternative-G;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative T tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CAGAGCTACGTC CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcagagctacgtcAGATCGAGACCCGACGC chr3:149370003-Alternative-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative T tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa AGTGACATGAGT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAagtgacatgagtAGATCGAGACCCGACGC chr3:149370003-Alternative-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative G tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa AATGGACGACTT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAaatggacgacttAGATCGAGACCCGACGC chr3:149370003-Alternative-G;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative G tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa ATACGCGCTACG CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAatacgcgctacgAGATCGAGACCCGACGC chr3:149370003-Alternative-G;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative T tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GGATAAGGCTAA CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAggataaggctaaAGATCGAGACCCGACGC chr3:149370003-Alternative-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Reference A tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GCGACCTACCTT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAgcgacctaccttAGATCGAGACCCGACGC chr3:149370003-Reference-A;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative T tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa AATGGCATTCGT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAaatggcattcgtAGATCGAGACCCGACGC chr3:149370003-Alternative-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative G tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GGAGTCTCGACT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAggagtctcgactAGATCGAGACCCGACGC chr3:149370003-Alternative-G;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative G tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GCGGTCATTATT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttGtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAgcggtcattattAGATCGAGACCCGACGC chr3:149370003-Alternative-G;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Alternative T tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa ATAACAGGACAC CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttTtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAataacaggacacAGATCGAGACCCGACGC chr3:149370003-Alternative-T;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Reference A tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa ATCAAGGCTGAT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAatcaaggctgatAGATCGAGACCCGACGC chr3:149370003-Reference-A;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Reference A tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CGAATGGTACGG CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcgaatggtacggAGATCGAGACCCGACGC chr3:149370003-Reference-A;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Reference A tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CGCTCTATCGCT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcgctctatcgctAGATCGAGACCCGACGC chr3:149370003-Reference-A;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Reference A tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa ACTATCGCTGAA CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttAtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAactatcgctgaaAGATCGAGACCCGACGC chr3:149370003-Reference-A;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Variant C tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GAGTAGTACAGT CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAgagtagtacagtAGATCGAGACCCGACGC chr3:149370003-Variant-C;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Variant C tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CGCCAATCGTAC CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcgccaatcgtacAGATCGAGACCCGACGC chr3:149370003-Variant-C;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Variant C tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa GTCATGGAGTAA CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAgtcatggagtaaAGATCGAGACCCGACGC chr3:149370003-Variant-C;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Variant C tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa AAGGTAGCAAGA CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAaaggtagcaagaAGATCGAGACCCGACGC chr3:149370003-Variant-C;Patient-64 chr3:149370003-AC DeNovo Patient-64 intronic WWTR1 0.000129 9.9e-05 0.3 7.25 -0.67 WWTR1 51056 Variant C tcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaa CAACTCCTAGAA CGACGCGGTCTCTCTCTtcatatacgaataagatggtcaactttggggcaaagcacaaatacaggttCtgggttcagggctttggcaatgtggaaagcaacattgtcaaaaagtgaaAGAGGGAGACGGACGTCTCAATAAcaactcctagaaAGATCGAGACCCGACGC chr3:149370003-Variant-C;Patient-64 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative C cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AGGCTGTATTGT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAaggctgtattgtAGATCGAGACCCGACGC chr3:149431765-Alternative-C;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative C cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgct CTACGAAGTGCG CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAActacgaagtgcgAGATCGAGACCCGACGC chr3:149431765-Alternative-C;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative C cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AGGCAAGTACGA CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAaggcaagtacgaAGATCGAGACCCGACGC chr3:149431765-Alternative-C;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative C cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgct GTTGGACATACT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAgttggacatactAGATCGAGACCCGACGC chr3:149431765-Alternative-C;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Reference A cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AATGCCTGAACG CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAaatgcctgaacgAGATCGAGACCCGACGC chr3:149431765-Reference-A;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative C cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgct GCGAAGCTATCG CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggCgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAgcgaagctatcgAGATCGAGACCCGACGC chr3:149431765-Alternative-C;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Reference A cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AGCTGTCATGAT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAagctgtcatgatAGATCGAGACCCGACGC chr3:149431765-Reference-A;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Reference A cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgct CTCGGAGCAGTT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAActcggagcagttAGATCGAGACCCGACGC chr3:149431765-Reference-A;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Reference A cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ACGGCATCTGGT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAacggcatctggtAGATCGAGACCCGACGC chr3:149431765-Reference-A;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Reference A cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ATCAATTCGGCA CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggAgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAatcaattcggcaAGATCGAGACCCGACGC chr3:149431765-Reference-A;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative T cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AGAGTAGGTGAA CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAagagtaggtgaaAGATCGAGACCCGACGC chr3:149431765-Alternative-T;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative T cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgct CGCCGCTATAAT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAcgccgctataatAGATCGAGACCCGACGC chr3:149431765-Alternative-T;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative T cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgct GGTTGTCCTATT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAggttgtcctattAGATCGAGACCCGACGC chr3:149431765-Alternative-T;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative T cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgct AAGGACGTATGT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAaaggacgtatgtAGATCGAGACCCGACGC chr3:149431765-Alternative-T;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Alternative T cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgct GATCAACGTACT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggTgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAgatcaacgtactAGATCGAGACCCGACGC chr3:149431765-Alternative-T;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Variant G cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ACGGCTGGTTGT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAacggctggttgtAGATCGAGACCCGACGC chr3:149431765-Variant-G;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Variant G cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgct CGCACGAATTAT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAcgcacgaattatAGATCGAGACCCGACGC chr3:149431765-Variant-G;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Variant G cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ACGATAGCTGTT CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAacgatagctgttAGATCGAGACCCGACGC chr3:149431765-Variant-G;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Variant G cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ACAATTGACCAC CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAacaattgaccacAGATCGAGACCCGACGC chr3:149431765-Variant-G;Patient-89 chr3:149431765-AG Inherited Patient-89 intergenic 0.000574 0.00103 0.05 3.47 0.15 WWTR1 10704 Variant G cccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgct ACCATGCTCCTA CGACGCGGTCTCTCTCTcccacgtcgctgcttttgctggccaccactgcggggaggctgcggggaggGgatgatagtctctggagcctgccctgggagccccccagatcccaccgctAGAGGGAGACGGACGTCTCAATAAaccatgctcctaAGATCGAGACCCGACGC chr3:149431765-Variant-G;Patient-89 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative T ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc GATTCAATTCGG CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAgattcaattcggAGATCGAGACCCGACGC chr3:150219506-Alternative-T;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Reference C ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc GATGCGTAACTT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAgatgcgtaacttAGATCGAGACCCGACGC chr3:150219506-Reference-C;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Variant A ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc GAGGTAGTCACG CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAgaggtagtcacgAGATCGAGACCCGACGC chr3:150219506-Variant-A;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Variant A ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc GGACAGTACCGA CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAggacagtaccgaAGATCGAGACCCGACGC chr3:150219506-Variant-A;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Variant A ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ACGCATTCCGCT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAacgcattccgctAGATCGAGACCCGACGC chr3:150219506-Variant-A;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Variant A ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc AGGCCGTCAAGT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAaggccgtcaagtAGATCGAGACCCGACGC chr3:150219506-Variant-A;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Reference C ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CGTATGTCACTT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAcgtatgtcacttAGATCGAGACCCGACGC chr3:150219506-Reference-C;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Variant A ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ACCAAGAGCTGA CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatAtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAaccaagagctgaAGATCGAGACCCGACGC chr3:150219506-Variant-A;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative T ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CGAGTCGTAGCT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAcgagtcgtagctAGATCGAGACCCGACGC chr3:150219506-Alternative-T;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Reference C ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc AGAAGAGTTGCG CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAagaagagttgcgAGATCGAGACCCGACGC chr3:150219506-Reference-C;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Reference C ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ACATGTGAACAG CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAacatgtgaacagAGATCGAGACCCGACGC chr3:150219506-Reference-C;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Reference C ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CGCGTTGGTCAT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatCtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAcgcgttggtcatAGATCGAGACCCGACGC chr3:150219506-Reference-C;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative T ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CGCAATAGATAC CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAcgcaatagatacAGATCGAGACCCGACGC chr3:150219506-Alternative-T;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative T ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CTAACGGTACTA CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAActaacggtactaAGATCGAGACCCGACGC chr3:150219506-Alternative-T;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative T ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc AGTTGGTGGCGT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatTtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAagttggtggcgtAGATCGAGACCCGACGC chr3:150219506-Alternative-T;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative G ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ACTGAGGCGAGA CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAactgaggcgagaAGATCGAGACCCGACGC chr3:150219506-Alternative-G;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative G ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ATAGGCGGCGAA CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAataggcggcgaaAGATCGAGACCCGACGC chr3:150219506-Alternative-G;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative G ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc CTTATGCATGCT CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAActtatgcatgctAGATCGAGACCCGACGC chr3:150219506-Alternative-G;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative G ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc GACGTCAATATC CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAgacgtcaatatcAGATCGAGACCCGACGC chr3:150219506-Alternative-G;Patient-60 chr3:150219506-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA EIF2A 45067 Alternative G ttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgcc ACGACAGATAAC CGACGCGGTCTCTCTCTttgaacgctttgccacttagaaatttctttcaccagataccctaaatcatGtccctcaagttcaaagttccacagatctctaaggcaggggcaaaatgccAGAGGGAGACGGACGTCTCAATAAacgacagataacAGATCGAGACCCGACGC chr3:150219506-Alternative-G;Patient-60 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Variant G gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CTCTAGCCTAAG CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAActctagcctaagAGATCGAGACCCGACGC chr3:152491360-Variant-G;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Variant G gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CTCGGTTAGTAA CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAActcggttagtaaAGATCGAGACCCGACGC chr3:152491360-Variant-G;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Variant G gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GTCATTAGGCGC CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgtcattaggcgcAGATCGAGACCCGACGC chr3:152491360-Variant-G;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative T gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GGATGAACGTAA CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAggatgaacgtaaAGATCGAGACCCGACGC chr3:152491360-Alternative-T;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Variant G gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CGGCATAGGCTT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAcggcataggcttAGATCGAGACCCGACGC chr3:152491360-Variant-G;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative T gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GCGAGTTCTAAT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgcgagttctaatAGATCGAGACCCGACGC chr3:152491360-Alternative-T;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative T gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CGTACTATCTGT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAcgtactatctgtAGATCGAGACCCGACGC chr3:152491360-Alternative-T;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Reference C gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GTTACGCAGATT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgttacgcagattAGATCGAGACCCGACGC chr3:152491360-Reference-C;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Variant G gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GTCTAGATCCGT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtGcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgtctagatccgtAGATCGAGACCCGACGC chr3:152491360-Variant-G;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative T gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GTTCGACGTCCT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgttcgacgtcctAGATCGAGACCCGACGC chr3:152491360-Alternative-T;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative T gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattacc ATAGCACCAAGA CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtTcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAatagcaccaagaAGATCGAGACCCGACGC chr3:152491360-Alternative-T;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative A gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattacc ACCGAATCGAAG CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAaccgaatcgaagAGATCGAGACCCGACGC chr3:152491360-Alternative-A;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative A gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CGTAGACAGTAA CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAcgtagacagtaaAGATCGAGACCCGACGC chr3:152491360-Alternative-A;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative A gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CATCGTTCACAT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAcatcgttcacatAGATCGAGACCCGACGC chr3:152491360-Alternative-A;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative A gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GAGACTCGAGCA CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgagactcgagcaAGATCGAGACCCGACGC chr3:152491360-Alternative-A;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Reference C gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GGTTGGAGCCTT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAggttggagccttAGATCGAGACCCGACGC chr3:152491360-Reference-C;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Alternative A gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GAGAGTAGTGTT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtAcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgagagtagtgttAGATCGAGACCCGACGC chr3:152491360-Alternative-A;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Reference C gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattacc GTAATGCACACG CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAgtaatgcacacgAGATCGAGACCCGACGC chr3:152491360-Reference-C;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Reference C gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CGAACGTAACAC CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAAcgaacgtaacacAGATCGAGACCCGACGC chr3:152491360-Reference-C;Patient-30 chr3:152491360-CG Inherited Patient-30 intergenic 0.000478 0.000513 NA NA NA P2RY1 61375 Reference C gattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattacc CTCGCACGTTGT CGACGCGGTCTCTCTCTgattgcaggtgtgagtcctgatgcctggcctagttggtcattctttttgtCcagcccttcttgattccaggccacttttgagcctgtttctaacattaccAGAGGGAGACGGACGTCTCAATAActcgcacgttgtAGATCGAGACCCGACGC chr3:152491360-Reference-C;Patient-30 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative G agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTGGCATCTGCT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActggcatctgctAGATCGAGACCCGACGC chr3:152788525-Alternative-G;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative G agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa ACAGCGCTACAC CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAacagcgctacacAGATCGAGACCCGACGC chr3:152788525-Alternative-G;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative G agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AACGAGATACGG CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAaacgagatacggAGATCGAGACCCGACGC chr3:152788525-Alternative-G;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Variant C agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTACGACGATGG CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActacgacgatggAGATCGAGACCCGACGC chr3:152788525-Variant-C;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative G agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa GTACCAGGTAGG CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAgtaccaggtaggAGATCGAGACCCGACGC chr3:152788525-Alternative-G;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Reference T agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTTGGTAGTTCT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActtggtagttctAGATCGAGACCCGACGC chr3:152788525-Reference-T;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Variant C agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AGCAATCACCAT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAagcaatcaccatAGATCGAGACCCGACGC chr3:152788525-Variant-C;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative G agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa ATTCACACGCTT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaGacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAattcacacgcttAGATCGAGACCCGACGC chr3:152788525-Alternative-G;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Reference T agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa GTGTAAGCGTAT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAgtgtaagcgtatAGATCGAGACCCGACGC chr3:152788525-Reference-T;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Variant C agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa GATCAAGCTGAA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAgatcaagctgaaAGATCGAGACCCGACGC chr3:152788525-Variant-C;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Reference T agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AACACCACGCGA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAaacaccacgcgaAGATCGAGACCCGACGC chr3:152788525-Reference-T;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Variant C agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa GTGTATCGAGTT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAgtgtatcgagttAGATCGAGACCCGACGC chr3:152788525-Variant-C;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative A agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AACTCATGCCTA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAaactcatgcctaAGATCGAGACCCGACGC chr3:152788525-Alternative-A;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative A agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AGAACGCTAACA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAagaacgctaacaAGATCGAGACCCGACGC chr3:152788525-Alternative-A;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative A agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTCTGACGCAAG CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActctgacgcaagAGATCGAGACCCGACGC chr3:152788525-Alternative-A;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Reference T agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTCAACCTACGT CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActcaacctacgtAGATCGAGACCCGACGC chr3:152788525-Reference-T;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative A agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa ATAGCGTTGCGG CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAatagcgttgcggAGATCGAGACCCGACGC chr3:152788525-Alternative-A;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Reference T agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa AGAAGTGGCTTA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaTacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAagaagtggcttaAGATCGAGACCCGACGC chr3:152788525-Reference-T;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Alternative A agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa ACCGAGTATTCA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaAacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAAaccgagtattcaAGATCGAGACCCGACGC chr3:152788525-Alternative-A;Patient-15 chr3:152788525-TC DeNovo Patient-15 intergenic NA 3.92e-05 0.16 5.27 1.39 RAP2B 91475 Variant C agaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaa CTCGGCTGTCTA CGACGCGGTCTCTCTCTagaacttcagagggcgggggaggaaacaaagtaagtgagaaagtttcagaCacagtgttaatggttgtaccttatttatgtggatatagatttgtctaaaAGAGGGAGACGGACGTCTCAATAActcggctgtctaAGATCGAGACCCGACGC chr3:152788525-Variant-C;Patient-15 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative G tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc AGGAATTCGGAT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaggaattcggatAGATCGAGACCCGACGC chr3:152820845-Alternative-G;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative G tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc ACCATTGGACTA CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaccattggactaAGATCGAGACCCGACGC chr3:152820845-Alternative-G;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative G tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc AAGACGGCGTAC CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaagacggcgtacAGATCGAGACCCGACGC chr3:152820845-Alternative-G;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative T tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc ACCACAGAGCGA CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaccacagagcgaAGATCGAGACCCGACGC chr3:152820845-Alternative-T;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative G tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc CTAGCTGCCACT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAActagctgccactAGATCGAGACCCGACGC chr3:152820845-Alternative-G;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative G tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc AGGTACTAGCTT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagGgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaggtactagcttAGATCGAGACCCGACGC chr3:152820845-Alternative-G;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative T tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc CGATCATCGCAG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAcgatcatcgcagAGATCGAGACCCGACGC chr3:152820845-Alternative-T;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Variant A tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc GGAACCTTGAAC CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAggaaccttgaacAGATCGAGACCCGACGC chr3:152820845-Variant-A;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative T tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc GAGGTACGAAGG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAgaggtacgaaggAGATCGAGACCCGACGC chr3:152820845-Alternative-T;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Variant A tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc ATCAATTCGTGG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAatcaattcgtggAGATCGAGACCCGACGC chr3:152820845-Variant-A;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative T tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc CGCAGATGTAAT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAcgcagatgtaatAGATCGAGACCCGACGC chr3:152820845-Alternative-T;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Variant A tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc CATCTCTCAACA CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAcatctctcaacaAGATCGAGACCCGACGC chr3:152820845-Variant-A;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Alternative T tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc GATCGATAGCGG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagTgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAgatcgatagcggAGATCGAGACCCGACGC chr3:152820845-Alternative-T;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Variant A tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc GGCTTATATGCT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAggcttatatgctAGATCGAGACCCGACGC chr3:152820845-Variant-A;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Variant A tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc AGCTCTCGTTCG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagAgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAagctctcgttcgAGATCGAGACCCGACGC chr3:152820845-Variant-A;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Reference C tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc CAGTAAGCGACG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAcagtaagcgacgAGATCGAGACCCGACGC chr3:152820845-Reference-C;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Reference C tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc AGCCTTAGATAC CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAagccttagatacAGATCGAGACCCGACGC chr3:152820845-Reference-C;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Reference C tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc GAGTCCGGATGT CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAgagtccggatgtAGATCGAGACCCGACGC chr3:152820845-Reference-C;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Reference C tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc ACCATTGACGCA CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAaccattgacgcaAGATCGAGACCCGACGC chr3:152820845-Reference-C;Patient-60 chr3:152820845-CA Inherited Patient-60 intergenic NA 0.000513 NA NA NA RAP2B 59155 Reference C tgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctc ACGACTTCTAAG CGACGCGGTCTCTCTCTtgcagtggcgtgatctccactcactgcaacctccgcctcccaggttcaagCgattctcctgccccagcctcccaagtagctgggattacaggcatgcctcAGAGGGAGACGGACGTCTCAATAAacgacttctaagAGATCGAGACCCGACGC chr3:152820845-Reference-C;Patient-60 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Variant C aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctcttttt GCGTGGAGTAGT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAgcgtggagtagtAGATCGAGACCCGACGC chr3:155564232-Variant-C;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Variant C aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctcttttt ACGGTGTACATT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAacggtgtacattAGATCGAGACCCGACGC chr3:155564232-Variant-C;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Variant C aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctcttttt AGTGCTAGGTGG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAagtgctaggtggAGATCGAGACCCGACGC chr3:155564232-Variant-C;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Variant C aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctcttttt CGACCATATCAG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAcgaccatatcagAGATCGAGACCCGACGC chr3:155564232-Variant-C;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative G aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctcttttt AGACCTTGACGT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAagaccttgacgtAGATCGAGACCCGACGC chr3:155564232-Alternative-G;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative G aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctcttttt GTGTAACATGCT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAgtgtaacatgctAGATCGAGACCCGACGC chr3:155564232-Alternative-G;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Variant C aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctcttttt GTAATCTTGGAC CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttCcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAgtaatcttggacAGATCGAGACCCGACGC chr3:155564232-Variant-C;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative G aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctcttttt CTAGATAGGCTA CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAActagataggctaAGATCGAGACCCGACGC chr3:155564232-Alternative-G;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative G aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctcttttt CGCAACCTATGT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAcgcaacctatgtAGATCGAGACCCGACGC chr3:155564232-Alternative-G;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative A aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctcttttt ACGTGATCTAGG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAacgtgatctaggAGATCGAGACCCGACGC chr3:155564232-Alternative-A;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative G aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctcttttt ACTCCACGTCGT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttGcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAactccacgtcgtAGATCGAGACCCGACGC chr3:155564232-Alternative-G;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative A aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctcttttt GCAACTCTACAG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAgcaactctacagAGATCGAGACCCGACGC chr3:155564232-Alternative-A;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative A aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctcttttt CTAGGTTCGTAA CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAActaggttcgtaaAGATCGAGACCCGACGC chr3:155564232-Alternative-A;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative A aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctcttttt CGAACGCATTCG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAcgaacgcattcgAGATCGAGACCCGACGC chr3:155564232-Alternative-A;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Reference T aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctcttttt GTCGGCCATCAA CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAgtcggccatcaaAGATCGAGACCCGACGC chr3:155564232-Reference-T;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Alternative A aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctcttttt CTAACGCGGCTA CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttAcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAActaacgcggctaAGATCGAGACCCGACGC chr3:155564232-Alternative-A;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Reference T aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctcttttt CGAATCAACAAG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAcgaatcaacaagAGATCGAGACCCGACGC chr3:155564232-Reference-T;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Reference T aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctcttttt AACGAACCTACC CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAaacgaacctaccAGATCGAGACCCGACGC chr3:155564232-Reference-T;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Reference T aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctcttttt GGCTTCTTGTCG CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAggcttcttgtcgAGATCGAGACCCGACGC chr3:155564232-Reference-T;Patient-89 chr3:155564232-TC Inherited Patient-89 intronic SLC33A1 NA 4.95e-05 -0.36 0.24 -3.17 SLC33A1 8015 Reference T aaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctcttttt CGTAGGTTCAAT CGACGCGGTCTCTCTCTaaaaggttcatattttagctccaaccatgaggtctggaacatagatatttTcccacacttccttttttttttttttttgagactgagtttcgctctttttAGAGGGAGACGGACGTCTCAATAAcgtaggttcaatAGATCGAGACCCGACGC chr3:155564232-Reference-T;Patient-89 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Reference C ctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaata ATCGCTTCACTT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAatcgcttcacttAGATCGAGACCCGACGC chr3:15598882-Reference-C;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative A ctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaata ACCACGTATCCA CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAaccacgtatccaAGATCGAGACCCGACGC chr3:15598882-Alternative-A;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Reference C ctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaata CGTGTCGTGCTT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAcgtgtcgtgcttAGATCGAGACCCGACGC chr3:15598882-Reference-C;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Reference C ctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaata CTAACCGACGCA CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAActaaccgacgcaAGATCGAGACCCGACGC chr3:15598882-Reference-C;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative A ctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaata AGGTATCGTTCA CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAaggtatcgttcaAGATCGAGACCCGACGC chr3:15598882-Alternative-A;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Reference C ctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaata AGTGCTCCGAAG CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAagtgctccgaagAGATCGAGACCCGACGC chr3:15598882-Reference-C;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative A ctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaata CTCACGTGGAAC CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAActcacgtggaacAGATCGAGACCCGACGC chr3:15598882-Alternative-A;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Reference C ctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaata GATGCCTCGAGT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaCataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAgatgcctcgagtAGATCGAGACCCGACGC chr3:15598882-Reference-C;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative A ctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaata CAATGAGCTTGT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAcaatgagcttgtAGATCGAGACCCGACGC chr3:15598882-Alternative-A;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative A ctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaata ATCCTAGTCGCT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaAataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAatcctagtcgctAGATCGAGACCCGACGC chr3:15598882-Alternative-A;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Variant T ctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaata ATACAACACGAG CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAatacaacacgagAGATCGAGACCCGACGC chr3:15598882-Variant-T;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative G ctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaata AGTTCAATTCGG CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAagttcaattcggAGATCGAGACCCGACGC chr3:15598882-Alternative-G;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Variant T ctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaata GTAAGGTGTAAC CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAgtaaggtgtaacAGATCGAGACCCGACGC chr3:15598882-Variant-T;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Variant T ctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaata GCCGAACCTATC CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAgccgaacctatcAGATCGAGACCCGACGC chr3:15598882-Variant-T;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Variant T ctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaata CACACGCTCGTT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAcacacgctcgttAGATCGAGACCCGACGC chr3:15598882-Variant-T;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Variant T ctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaata ACAGATGGAATC CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaTataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAacagatggaatcAGATCGAGACCCGACGC chr3:15598882-Variant-T;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative G ctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaata GTATCGTTATGG CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAgtatcgttatggAGATCGAGACCCGACGC chr3:15598882-Alternative-G;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative G ctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaata GACCGCGTCTAA CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAgaccgcgtctaaAGATCGAGACCCGACGC chr3:15598882-Alternative-G;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative G ctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaata CAGATCGAACTT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAcagatcgaacttAGATCGAGACCCGACGC chr3:15598882-Alternative-G;Patient-30 chr3:15598882-CT Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA BTD 44372 Alternative G ctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaata CGGTGTATCCAT CGACGCGGTCTCTCTCTctcagtttttatgaggcaattggatattattaacacatataataggatcaGataagaaattcattattaaactaggggctacaaaatattctatcaaataAGAGGGAGACGGACGTCTCAATAAcggtgtatccatAGATCGAGACCCGACGC chr3:15598882-Alternative-G;Patient-30 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative G cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa CTAAGTACGGAG CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAActaagtacggagAGATCGAGACCCGACGC chr3:15634506-Alternative-G;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative G cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa CGAATCAACGTC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAcgaatcaacgtcAGATCGAGACCCGACGC chr3:15634506-Alternative-G;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Reference T cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa AGTCGAACGAAT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAagtcgaacgaatAGATCGAGACCCGACGC chr3:15634506-Reference-T;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative G cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GAGGTAGATTGA CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgaggtagattgaAGATCGAGACCCGACGC chr3:15634506-Alternative-G;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Reference T cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa ATCTGGTATGGT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAatctggtatggtAGATCGAGACCCGACGC chr3:15634506-Reference-T;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative G cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GCGTATAGATAC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgcgtatagatacAGATCGAGACCCGACGC chr3:15634506-Alternative-G;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative A cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GGAAGACGCAGA CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAggaagacgcagaAGATCGAGACCCGACGC chr3:15634506-Alternative-A;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Reference T cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa CTAGTCTCGCCT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAActagtctcgcctAGATCGAGACCCGACGC chr3:15634506-Reference-T;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Reference T cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa ATTCGCGGCAGT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAattcgcggcagtAGATCGAGACCCGACGC chr3:15634506-Reference-T;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Reference T cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GCATCCGAACCT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaTgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgcatccgaacctAGATCGAGACCCGACGC chr3:15634506-Reference-T;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative G cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GCGTCTAACGAC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaGgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgcgtctaacgacAGATCGAGACCCGACGC chr3:15634506-Alternative-G;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Variant C cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GTATCTGTTGTC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgtatctgttgtcAGATCGAGACCCGACGC chr3:15634506-Variant-C;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Variant C cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa AGGCGTAGTAAC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAaggcgtagtaacAGATCGAGACCCGACGC chr3:15634506-Variant-C;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative A cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GACGATCCGAAC CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgacgatccgaacAGATCGAGACCCGACGC chr3:15634506-Alternative-A;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative A cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GACCTCCGTGTT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgacctccgtgttAGATCGAGACCCGACGC chr3:15634506-Alternative-A;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative A cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa AGGACACCAATA CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAaggacaccaataAGATCGAGACCCGACGC chr3:15634506-Alternative-A;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Variant C cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa CGGACAACACCA CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAcggacaacaccaAGATCGAGACCCGACGC chr3:15634506-Variant-C;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Variant C cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa CGTAGACCGTGT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAcgtagaccgtgtAGATCGAGACCCGACGC chr3:15634506-Variant-C;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Variant C cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa ACTGAGCGCGAT CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaCgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAactgagcgcgatAGATCGAGACCCGACGC chr3:15634506-Variant-C;Patient-36 chr3:15634506-TC DeNovo Patient-36 intronic HACL1 0.000377 0.00797 -0.07 1.76 0 HACL1 8623 Alternative A cgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaa GAGGTACTGCGA CGACGCGGTCTCTCTCTcgtgtatacacatgtacgcacatgtgtgcgtgtatacacatgtacgcacaAgtgtgcgtgtatacacatgtacgcatatgtacatatatactctgggcaaAGAGGGAGACGGACGTCTCAATAAgaggtactgcgaAGATCGAGACCCGACGC chr3:15634506-Alternative-A;Patient-36 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Variant C ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CATCGCGTGACT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcatcgcgtgactAGATCGAGACCCGACGC chr3:158300102-Variant-C;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Variant C ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GAGTGCGCTCTT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgagtgcgctcttAGATCGAGACCCGACGC chr3:158300102-Variant-C;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Variant C ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GTCGTGAGCTGT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgtcgtgagctgtAGATCGAGACCCGACGC chr3:158300102-Variant-C;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative A ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CACGCATACGGT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcacgcatacggtAGATCGAGACCCGACGC chr3:158300102-Alternative-A;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Variant C ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg AGTCGCACCAAG CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAagtcgcaccaagAGATCGAGACCCGACGC chr3:158300102-Variant-C;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative A ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CACGAGCACTGA CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcacgagcactgaAGATCGAGACCCGACGC chr3:158300102-Alternative-A;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative A ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GTCATCAAGTAC CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgtcatcaagtacAGATCGAGACCCGACGC chr3:158300102-Alternative-A;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Variant C ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CGGTGGCGTATA CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacCggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcggtggcgtataAGATCGAGACCCGACGC chr3:158300102-Variant-C;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative A ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CGCAGCAAGCAT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcgcagcaagcatAGATCGAGACCCGACGC chr3:158300102-Alternative-A;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative A ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GGAAGTGCTAGA CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacAggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAggaagtgctagaAGATCGAGACCCGACGC chr3:158300102-Alternative-A;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Reference T ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GCGTATCGTACG CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgcgtatcgtacgAGATCGAGACCCGACGC chr3:158300102-Reference-T;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative G ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CTTGAGCACACG CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAActtgagcacacgAGATCGAGACCCGACGC chr3:158300102-Alternative-G;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative G ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg AAGAACGCACTT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAaagaacgcacttAGATCGAGACCCGACGC chr3:158300102-Alternative-G;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative G ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GTAGAAGCGTCC CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgtagaagcgtccAGATCGAGACCCGACGC chr3:158300102-Alternative-G;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Reference T ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CGGAAGCTTCCT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcggaagcttcctAGATCGAGACCCGACGC chr3:158300102-Reference-T;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative G ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CTACGTGCGTGT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAActacgtgcgtgtAGATCGAGACCCGACGC chr3:158300102-Alternative-G;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Alternative G ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CAGACGACTCAT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacGggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcagacgactcatAGATCGAGACCCGACGC chr3:158300102-Alternative-G;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Reference T ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg GCGCTAAGAGCA CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAgcgctaagagcaAGATCGAGACCCGACGC chr3:158300102-Reference-T;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Reference T ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CGATTCCTGACT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcgattcctgactAGATCGAGACCCGACGC chr3:158300102-Reference-T;Patient-75 chr3:158300102-TC DeNovo Patient-75 intronic MLF1 NA 4.95e-05 -0.17 0.85 -0.88 MLF1 11148 Reference T ggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtaggg CGGCCATTCGAT CGACGCGGTCTCTCTCTggatatgacagtagaaacttccaaaactgaaaatcaaagagaaaaaagacTggaaaaaaaaaacccataatatccaagaactgtggcaagaactgtagggAGAGGGAGACGGACGTCTCAATAAcggccattcgatAGATCGAGACCCGACGC chr3:158300102-Reference-T;Patient-75 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative G atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa CGACGACCAGAA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAcgacgaccagaaAGATCGAGACCCGACGC chr3:159633502-Alternative-G;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative G atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa CAAGTAGATCGG CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAcaagtagatcggAGATCGAGACCCGACGC chr3:159633502-Alternative-G;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Variant C atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa AAGTACCGACTA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAaagtaccgactaAGATCGAGACCCGACGC chr3:159633502-Variant-C;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative G atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ATACTTGGTCGA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAatacttggtcgaAGATCGAGACCCGACGC chr3:159633502-Alternative-G;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Variant C atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GTTGGTGACCGT CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAgttggtgaccgtAGATCGAGACCCGACGC chr3:159633502-Variant-C;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative G atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa CACAACAGTAGA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAcacaacagtagaAGATCGAGACCCGACGC chr3:159633502-Alternative-G;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Variant C atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa CTCACGTTCCGA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAActcacgttccgaAGATCGAGACCCGACGC chr3:159633502-Variant-C;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Variant C atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GCGTTGCTATGG CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAgcgttgctatggAGATCGAGACCCGACGC chr3:159633502-Variant-C;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Variant C atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ACTTGGACTCGG CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgCagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAacttggactcggAGATCGAGACCCGACGC chr3:159633502-Variant-C;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative G atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ACGAGGTGATTA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgGagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAacgaggtgattaAGATCGAGACCCGACGC chr3:159633502-Alternative-G;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Reference T atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa AGACCAAGTAGT CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAagaccaagtagtAGATCGAGACCCGACGC chr3:159633502-Reference-T;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative A atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa AGTCAGCTACTA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAagtcagctactaAGATCGAGACCCGACGC chr3:159633502-Alternative-A;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Reference T atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ACCTTGATCGTT CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAaccttgatcgttAGATCGAGACCCGACGC chr3:159633502-Reference-T;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative A atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GATCCTATGGAG CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAgatcctatggagAGATCGAGACCCGACGC chr3:159633502-Alternative-A;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Reference T atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GGTAATCACGTT CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAggtaatcacgttAGATCGAGACCCGACGC chr3:159633502-Reference-T;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative A atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GGCCATAATACT CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAggccataatactAGATCGAGACCCGACGC chr3:159633502-Alternative-A;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Reference T atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa CAACTCACGAAC CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAcaactcacgaacAGATCGAGACCCGACGC chr3:159633502-Reference-T;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative A atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ACGATGCGGTCA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAacgatgcggtcaAGATCGAGACCCGACGC chr3:159633502-Alternative-A;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Reference T atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa GAGCTCTTATGA CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgTagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAgagctcttatgaAGATCGAGACCCGACGC chr3:159633502-Reference-T;Patient-88 chr3:159633502-TC DeNovo Patient-88 intergenic NA 0.000513 0.03 3.17 -0.68 IL12A 73120 Alternative A atcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaa ACTCACATAAGG CGACGCGGTCTCTCTCTatcagagggcccttcacctggattcttctagtgcttcccttcacctcttgAagccaggttcttgtaagcctgtactgcccaggccagcctactagctcaaAGAGGGAGACGGACGTCTCAATAAactcacataaggAGATCGAGACCCGACGC chr3:159633502-Alternative-A;Patient-88 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Variant A agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AGCTTAGACGTC CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAagcttagacgtcAGATCGAGACCCGACGC chr3:159735837-Variant-A;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Variant A agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AGCACGGCTCAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAagcacggctcatAGATCGAGACCCGACGC chr3:159735837-Variant-A;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Variant A agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CGCCGATATCTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAcgccgatatcttAGATCGAGACCCGACGC chr3:159735837-Variant-A;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative C agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat ACTCTGCCATAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAactctgccatatAGATCGAGACCCGACGC chr3:159735837-Alternative-C;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative C agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AACGACCGGCTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAaacgaccggcttAGATCGAGACCCGACGC chr3:159735837-Alternative-C;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative T agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AACCGGAGGAGT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAaaccggaggagtAGATCGAGACCCGACGC chr3:159735837-Alternative-T;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative T agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat GCAGGTCACCAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAgcaggtcaccatAGATCGAGACCCGACGC chr3:159735837-Alternative-T;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative C agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AGCCGGTATTCG CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAagccggtattcgAGATCGAGACCCGACGC chr3:159735837-Alternative-C;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative T agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CGGATAGCGGAA CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAcggatagcggaaAGATCGAGACCCGACGC chr3:159735837-Alternative-T;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Reference G agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat GCAAGATTGCGG CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAgcaagattgcggAGATCGAGACCCGACGC chr3:159735837-Reference-G;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative T agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat GCGCAATACGGT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAgcgcaatacggtAGATCGAGACCCGACGC chr3:159735837-Alternative-T;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative T agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AACGTGAGCGGT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagTaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAaacgtgagcggtAGATCGAGACCCGACGC chr3:159735837-Alternative-T;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative C agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AACCATGTAACG CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAaaccatgtaacgAGATCGAGACCCGACGC chr3:159735837-Alternative-C;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Variant A agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CTATGGAGAGTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAActatggagagttAGATCGAGACCCGACGC chr3:159735837-Variant-A;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Reference G agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat AAGGCTAACAGT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAaaggctaacagtAGATCGAGACCCGACGC chr3:159735837-Reference-G;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Variant A agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat GATCGTGTCTAA CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagAaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAgatcgtgtctaaAGATCGAGACCCGACGC chr3:159735837-Variant-A;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Reference G agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CGTAGGATTGTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAcgtaggattgttAGATCGAGACCCGACGC chr3:159735837-Reference-G;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Reference G agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat GCGACTTAGTCG CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAgcgacttagtcgAGATCGAGACCCGACGC chr3:159735837-Reference-G;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Reference G agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CATTGGAAGACG CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagGaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAAcattggaagacgAGATCGAGACCCGACGC chr3:159735837-Reference-G;Patient-34 chr3:159735837-GA DeNovo Patient-34 intergenic 6.6e-05 0.000513 -0.17 0.87 0 IL12A 29213 Alternative C agagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaat CTGTCGTCCTGA CGACGCGGTCTCTCTCTagagagagagagagagagagagagaaagagaaaggaaggaaggaaggaagCaaggaaggaaggaaggaaggaaggaaggaaggaactaagagaactcaatAGAGGGAGACGGACGTCTCAATAActgtcgtcctgaAGATCGAGACCCGACGC chr3:159735837-Alternative-C;Patient-34 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Variant T gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat ATCTCAAGCAGA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAatctcaagcagaAGATCGAGACCCGACGC chr3:160198240-Variant-T;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Variant T gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CAGGATAAGGTT CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAcaggataaggttAGATCGAGACCCGACGC chr3:160198240-Variant-T;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Variant T gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat ACGCTAAGGTGG CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAacgctaaggtggAGATCGAGACCCGACGC chr3:160198240-Variant-T;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Reference A gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CATCTATCTCGA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAcatctatctcgaAGATCGAGACCCGACGC chr3:160198240-Reference-A;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Reference A gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CGCAGTTGACTA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAcgcagttgactaAGATCGAGACCCGACGC chr3:160198240-Reference-A;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Reference A gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CTTAACGTTGAG CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAActtaacgttgagAGATCGAGACCCGACGC chr3:160198240-Reference-A;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Reference A gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GCGTATATTGAG CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgcgtatattgagAGATCGAGACCCGACGC chr3:160198240-Reference-A;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative C gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat AAGACGTCACTT CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAaagacgtcacttAGATCGAGACCCGACGC chr3:160198240-Alternative-C;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative C gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat AGGAACACATCA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAaggaacacatcaAGATCGAGACCCGACGC chr3:160198240-Alternative-C;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Reference A gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CTATCTCTCGAA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagAagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAActatctctcgaaAGATCGAGACCCGACGC chr3:160198240-Reference-A;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative C gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GACGCTGTGCAT CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgacgctgtgcatAGATCGAGACCCGACGC chr3:160198240-Alternative-C;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Variant T gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GTACTTACCGGC CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgtacttaccggcAGATCGAGACCCGACGC chr3:160198240-Variant-T;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Variant T gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GTGAATTCCACT CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagTagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgtgaattccactAGATCGAGACCCGACGC chr3:160198240-Variant-T;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative C gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CTAAGAGGTACA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAActaagaggtacaAGATCGAGACCCGACGC chr3:160198240-Alternative-C;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative C gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat CTCTACGCACTA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagCagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAActctacgcactaAGATCGAGACCCGACGC chr3:160198240-Alternative-C;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative G gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GCAGGTAACGGT CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgcaggtaacggtAGATCGAGACCCGACGC chr3:160198240-Alternative-G;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative G gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GGTTATAGCATC CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAggttatagcatcAGATCGAGACCCGACGC chr3:160198240-Alternative-G;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative G gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat ATCTGGTATACG CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAatctggtatacgAGATCGAGACCCGACGC chr3:160198240-Alternative-G;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative G gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat ACATCGCATGAA CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAacatcgcatgaaAGATCGAGACCCGACGC chr3:160198240-Alternative-G;Patient-57 chr3:160198240-AT DeNovo Patient-57 intergenic 6.4e-05 0.000513 -0.1 1.42 0.13 SMC4 80809 Alternative G gcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaat GACCGCGATAAC CGACGCGGTCTCTCTCTgcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagGagggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatAGAGGGAGACGGACGTCTCAATAAgaccgcgataacAGATCGAGACCCGACGC chr3:160198240-Alternative-G;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative T cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc GTCGAACGGCTT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAgtcgaacggcttAGATCGAGACCCGACGC chr3:160198241-Alternative-T;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Reference A cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AACGAACGCGTT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAaacgaacgcgttAGATCGAGACCCGACGC chr3:160198241-Reference-A;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Variant G cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc CATTGAACCGAA CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAcattgaaccgaaAGATCGAGACCCGACGC chr3:160198241-Variant-G;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Reference A cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AATGGCTATCGA CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAaatggctatcgaAGATCGAGACCCGACGC chr3:160198241-Reference-A;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative C cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ATTCTACGCGTT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAattctacgcgttAGATCGAGACCCGACGC chr3:160198241-Alternative-C;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative T cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ACGTACATACGG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAacgtacatacggAGATCGAGACCCGACGC chr3:160198241-Alternative-T;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative T cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AGGCGTATCAAG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAaggcgtatcaagAGATCGAGACCCGACGC chr3:160198241-Alternative-T;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative T cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AGATCGTGAACT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAagatcgtgaactAGATCGAGACCCGACGC chr3:160198241-Alternative-T;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Variant G cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AGGCGGTCCATT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAaggcggtccattAGATCGAGACCCGACGC chr3:160198241-Variant-G;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative T cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ACAGATTAGTGG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaTgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAacagattagtggAGATCGAGACCCGACGC chr3:160198241-Alternative-T;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative C cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ATAGATCGATCG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAatagatcgatcgAGATCGAGACCCGACGC chr3:160198241-Alternative-C;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative C cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ACGTAGGTCGTC CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAacgtaggtcgtcAGATCGAGACCCGACGC chr3:160198241-Alternative-C;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Variant G cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ACGATTCGAACG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAacgattcgaacgAGATCGAGACCCGACGC chr3:160198241-Variant-G;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative C cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc CTTATCTTGCGA CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAActtatcttgcgaAGATCGAGACCCGACGC chr3:160198241-Alternative-C;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Reference A cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc GGAACTTGGACG CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAggaacttggacgAGATCGAGACCCGACGC chr3:160198241-Reference-A;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Reference A cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc GTTCAATGGTAC CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAgttcaatggtacAGATCGAGACCCGACGC chr3:160198241-Reference-A;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Alternative C cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AGCGCTCGTAGT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaCgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAagcgctcgtagtAGATCGAGACCCGACGC chr3:160198241-Alternative-C;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Reference A cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc AGTACTCTCGTT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaAgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAagtactctcgttAGATCGAGACCCGACGC chr3:160198241-Reference-A;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Variant G cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ATACGGTGAACA CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAatacggtgaacaAGATCGAGACCCGACGC chr3:160198241-Variant-G;Patient-57 chr3:160198241-AG DeNovo Patient-57 intergenic 6.4e-05 0.000513 0.12 4.63 1.12 SMC4 80810 Variant G cctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatc ACAGATGCTCTT CGACGCGGTCTCTCTCTcctgctgaagacagaggcccatgttctttccaccacactgaggtctaagaGgggaaccagagtttaagtgtctgcaagtacagagatttggtggacaatcAGAGGGAGACGGACGTCTCAATAAacagatgctcttAGATCGAGACCCGACGC chr3:160198241-Variant-G;Patient-57 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Variant G tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc CGCAACACGAAC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAcgcaacacgaacAGATCGAGACCCGACGC chr3:161027051-Variant-G;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Variant G tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GGCAAGCTAACG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAggcaagctaacgAGATCGAGACCCGACGC chr3:161027051-Variant-G;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Variant G tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GGCTAATTCTAC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAggctaattctacAGATCGAGACCCGACGC chr3:161027051-Variant-G;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative T tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GATGTGACGTGG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgatgtgacgtggAGATCGAGACCCGACGC chr3:161027051-Alternative-T;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Variant G tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GGATGCGTGCTT CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAggatgcgtgcttAGATCGAGACCCGACGC chr3:161027051-Variant-G;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Variant G tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GACTGTACTAAC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccGtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgactgtactaacAGATCGAGACCCGACGC chr3:161027051-Variant-G;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative T tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc CGAGCTGAATTA CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAcgagctgaattaAGATCGAGACCCGACGC chr3:161027051-Alternative-T;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative T tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GACCTCGAGTGT CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgacctcgagtgtAGATCGAGACCCGACGC chr3:161027051-Alternative-T;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative T tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc CTGTTAGCGGCA CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAActgttagcggcaAGATCGAGACCCGACGC chr3:161027051-Alternative-T;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative T tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GTTAGACTGCCG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccTtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgttagactgccgAGATCGAGACCCGACGC chr3:161027051-Alternative-T;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Reference A tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GACGCGATTGTC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgacgcgattgtcAGATCGAGACCCGACGC chr3:161027051-Reference-A;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Reference A tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GTCTAGCTCTAT CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgtctagctctatAGATCGAGACCCGACGC chr3:161027051-Reference-A;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Reference A tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc AGGCCATACGTC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAaggccatacgtcAGATCGAGACCCGACGC chr3:161027051-Reference-A;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Reference A tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GCACCATTGTGG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAgcaccattgtggAGATCGAGACCCGACGC chr3:161027051-Reference-A;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative C tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc GGCAGTTGCAAG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAggcagttgcaagAGATCGAGACCCGACGC chr3:161027051-Alternative-C;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative C tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc AGGTGAGGACAG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAaggtgaggacagAGATCGAGACCCGACGC chr3:161027051-Alternative-C;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Reference A tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc CGTGCTACACAC CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccAtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAcgtgctacacacAGATCGAGACCCGACGC chr3:161027051-Reference-A;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative C tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc AGGTTAATGTGG CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAaggttaatgtggAGATCGAGACCCGACGC chr3:161027051-Alternative-C;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative C tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc AGCTAAGCTGAT CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAagctaagctgatAGATCGAGACCCGACGC chr3:161027051-Alternative-C;Patient-91 chr3:161027051-AG Inherited Patient-91 intergenic 6.4e-05 0.000512821 0.07 3.81 0.69 NMD3 87951 Alternative C tgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttcccc AAGATCGGTTCA CGACGCGGTCTCTCTCTtgttgtcttattttatgaaatttccacagccacaccaacctttagaaaccCtcatccggcttggtcagcagtcatcaacattgaggcaagacccttccccAGAGGGAGACGGACGTCTCAATAAaagatcggttcaAGATCGAGACCCGACGC chr3:161027051-Alternative-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Variant C tatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagcta AAGTAGCGTCTA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAaagtagcgtctaAGATCGAGACCCGACGC chr3:164717258-Variant-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Variant C tatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagcta GTGTCTTGAACA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAgtgtcttgaacaAGATCGAGACCCGACGC chr3:164717258-Variant-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Variant C tatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagcta CGAGGCGTATGA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAcgaggcgtatgaAGATCGAGACCCGACGC chr3:164717258-Variant-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Reference A tatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagcta ATCGCGATAGTT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAatcgcgatagttAGATCGAGACCCGACGC chr3:164717258-Reference-A;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Reference A tatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagcta GACAACGCAATA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAgacaacgcaataAGATCGAGACCCGACGC chr3:164717258-Reference-A;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative G tatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagcta ACACAACGGTGG CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAacacaacggtggAGATCGAGACCCGACGC chr3:164717258-Alternative-G;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Variant C tatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagcta ACCTAGATCGAC CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAacctagatcgacAGATCGAGACCCGACGC chr3:164717258-Variant-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative G tatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagcta ATAGATGCTGAG CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAatagatgctgagAGATCGAGACCCGACGC chr3:164717258-Alternative-G;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative G tatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagcta CGGCCGTCAATT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAcggccgtcaattAGATCGAGACCCGACGC chr3:164717258-Alternative-G;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative G tatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagcta ATCCTACGGCAG CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAatcctacggcagAGATCGAGACCCGACGC chr3:164717258-Alternative-G;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative G tatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagcta GCACGGTAGTCA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataGaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAgcacggtagtcaAGATCGAGACCCGACGC chr3:164717258-Alternative-G;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Reference A tatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagcta AACCGAACTCTT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAaaccgaactcttAGATCGAGACCCGACGC chr3:164717258-Reference-A;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Reference A tatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagcta CGCATCGACCTA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAcgcatcgacctaAGATCGAGACCCGACGC chr3:164717258-Reference-A;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative T tatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagcta ACAGCAATGGCG CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAacagcaatggcgAGATCGAGACCCGACGC chr3:164717258-Alternative-T;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Variant C tatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagcta CATGCTCGCTGT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataCaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAcatgctcgctgtAGATCGAGACCCGACGC chr3:164717258-Variant-C;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative T tatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagcta GGATGGACTAAT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAggatggactaatAGATCGAGACCCGACGC chr3:164717258-Alternative-T;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative T tatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagcta GATAGACGACTA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAgatagacgactaAGATCGAGACCCGACGC chr3:164717258-Alternative-T;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative T tatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagcta AAGACGGACCTT CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAaagacggaccttAGATCGAGACCCGACGC chr3:164717258-Alternative-T;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Reference A tatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagcta CTTAGCTACAAC CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataAaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAActtagctacaacAGATCGAGACCCGACGC chr3:164717258-Reference-A;Patient-91 chr3:164717258-AC Inherited Patient-91 intronic SI NA 4.95e-05 -0.09 1.53 -0.5 SI 79024 Alternative T tatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagcta ATCCGTGTAACA CGACGCGGTCTCTCTCTtatattataagagtatcaataaagttttactctaatattagttggaaataTaaattttatttttatattactcaaataatttgaatatgaataagagctaAGAGGGAGACGGACGTCTCAATAAatccgtgtaacaAGATCGAGACCCGACGC chr3:164717258-Alternative-T;Patient-91 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Reference T tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGGTCGTATGGT CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcggtcgtatggtAGATCGAGACCCGACGC chr3:169312613-Reference-T;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Reference T tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GGTGGATATCGG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAggtggatatcggAGATCGAGACCCGACGC chr3:169312613-Reference-T;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Variant C tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta AAGTGCTTCTGA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAaagtgcttctgaAGATCGAGACCCGACGC chr3:169312613-Variant-C;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative A tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GTCAGATACAAC CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAgtcagatacaacAGATCGAGACCCGACGC chr3:169312613-Alternative-A;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Variant C tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GTTAAGTCCGCG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAgttaagtccgcgAGATCGAGACCCGACGC chr3:169312613-Variant-C;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Variant C tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GGATAGATACCA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAggatagataccaAGATCGAGACCCGACGC chr3:169312613-Variant-C;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative G tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta ATCCGACGGTCA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAatccgacggtcaAGATCGAGACCCGACGC chr3:169312613-Alternative-G;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative A tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGATCAACAACG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcgatcaacaacgAGATCGAGACCCGACGC chr3:169312613-Alternative-A;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Reference T tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGGACTTGATAT CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcggacttgatatAGATCGAGACCCGACGC chr3:169312613-Reference-T;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Reference T tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGTAGACGTAGG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcgtagacgtaggAGATCGAGACCCGACGC chr3:169312613-Reference-T;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative A tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta AGGTTGTGTTCA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAaggttgtgttcaAGATCGAGACCCGACGC chr3:169312613-Alternative-A;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative A tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GTACTAAGCCGG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAgtactaagccggAGATCGAGACCCGACGC chr3:169312613-Alternative-A;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative A tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGATCCAATCAA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagAatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcgatccaatcaaAGATCGAGACCCGACGC chr3:169312613-Alternative-A;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Reference T tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta GCGATAATAGCA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagTatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAgcgataatagcaAGATCGAGACCCGACGC chr3:169312613-Reference-T;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Variant C tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CAGTAACAAGCA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcagtaacaagcaAGATCGAGACCCGACGC chr3:169312613-Variant-C;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative G tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CAGTATAGCAGA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcagtatagcagaAGATCGAGACCCGACGC chr3:169312613-Alternative-G;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative G tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta AGCGGAGATAGG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAagcggagataggAGATCGAGACCCGACGC chr3:169312613-Alternative-G;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Variant C tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CAGCGCGATAAG CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagCatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcagcgcgataagAGATCGAGACCCGACGC chr3:169312613-Variant-C;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative G tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CGAAGTCATGTT CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAAcgaagtcatgttAGATCGAGACCCGACGC chr3:169312613-Alternative-G;Patient-86 chr3:169312613-TC DeNovo Patient-86 intronic MECOM 6.6e-05 4.95e-05 -0.28 0.42 -6.45 MECOM 68949 Alternative G tgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatcta CTAGGCTAGTAA CGACGCGGTCTCTCTCTtgataagcttaccaacatgttaaaacaacaaggcaacacagcaggcctagGatggaacacaaataaacgtcacagaatctgaccttaaaagctggatctaAGAGGGAGACGGACGTCTCAATAActaggctagtaaAGATCGAGACCCGACGC chr3:169312613-Alternative-G;Patient-86 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative T gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CTCGCACTTACG CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAActcgcacttacgAGATCGAGACCCGACGC chr3:169456794-Alternative-T;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative T gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac ATCCTCTTGACA CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAatcctcttgacaAGATCGAGACCCGACGC chr3:169456794-Alternative-T;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative T gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac ACGCATAATGCT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAacgcataatgctAGATCGAGACCCGACGC chr3:169456794-Alternative-T;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Variant A gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CGTACGCGTCTA CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAcgtacgcgtctaAGATCGAGACCCGACGC chr3:169456794-Variant-A;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Variant A gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CTCGTAGGCAGT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAActcgtaggcagtAGATCGAGACCCGACGC chr3:169456794-Variant-A;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Variant A gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac GATCGACTAACG CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAgatcgactaacgAGATCGAGACCCGACGC chr3:169456794-Variant-A;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Variant A gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac GATTCGTGTGCG CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAgattcgtgtgcgAGATCGAGACCCGACGC chr3:169456794-Variant-A;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Variant A gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac AATGCCGTAACG CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaAaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAaatgccgtaacgAGATCGAGACCCGACGC chr3:169456794-Variant-A;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Reference C gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac ACACTGTACGAC CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAacactgtacgacAGATCGAGACCCGACGC chr3:169456794-Reference-C;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Reference C gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CATCACGATCTT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAcatcacgatcttAGATCGAGACCCGACGC chr3:169456794-Reference-C;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative T gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CTGTCGACTTAT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAActgtcgacttatAGATCGAGACCCGACGC chr3:169456794-Alternative-T;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Reference C gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CGTGGTCTTATT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAcgtggtcttattAGATCGAGACCCGACGC chr3:169456794-Reference-C;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Reference C gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac ACAACACCTAAC CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAacaacacctaacAGATCGAGACCCGACGC chr3:169456794-Reference-C;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Reference C gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac ACTACGGCATGC CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaCaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAactacggcatgcAGATCGAGACCCGACGC chr3:169456794-Reference-C;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative G gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CTTGGTACCGAA CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAActtggtaccgaaAGATCGAGACCCGACGC chr3:169456794-Alternative-G;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative G gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac GCAACCTAACAG CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAgcaacctaacagAGATCGAGACCCGACGC chr3:169456794-Alternative-G;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative G gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac GTACGTCGCGTT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAgtacgtcgcgttAGATCGAGACCCGACGC chr3:169456794-Alternative-G;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative G gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac GCATGTTCCTAA CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAgcatgttcctaaAGATCGAGACCCGACGC chr3:169456794-Alternative-G;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative G gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CGGAGTATATAC CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaGaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAcggagtatatacAGATCGAGACCCGACGC chr3:169456794-Alternative-G;Patient-99 chr3:169456794-CA DeNovo Patient-99 intergenic 6.5e-05 0.000513 0.62 10.41 -1.57 ACTRT3 30888 Alternative T gacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaac CGATAATCGACT CGACGCGGTCTCTCTCTgacaatattgaattatctcaataccttatcattggcttaaccttgtcacaTaaccagtatatcccacaaccgactgattcttgttcacaattcaagaaacAGAGGGAGACGGACGTCTCAATAAcgataatcgactAGATCGAGACCCGACGC chr3:169456794-Alternative-T;Patient-99 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Variant G tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattggg AATAGTCGGAGT CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAaatagtcggagtAGATCGAGACCCGACGC chr3:170015127-Variant-G;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Variant G tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattggg CTCTTAGGAGGT CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAActcttaggaggtAGATCGAGACCCGACGC chr3:170015127-Variant-G;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Variant G tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ACGGCATCAACT CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAacggcatcaactAGATCGAGACCCGACGC chr3:170015127-Variant-G;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Reference A tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GCGATACGAATA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAgcgatacgaataAGATCGAGACCCGACGC chr3:170015127-Reference-A;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative T tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GTGATGACCTAA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAgtgatgacctaaAGATCGAGACCCGACGC chr3:170015127-Alternative-T;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative T tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GATAGGCATTCA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAgataggcattcaAGATCGAGACCCGACGC chr3:170015127-Alternative-T;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Variant G tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GTCTATCTGTCA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAgtctatctgtcaAGATCGAGACCCGACGC chr3:170015127-Variant-G;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative T tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GCGATATAGTCA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAgcgatatagtcaAGATCGAGACCCGACGC chr3:170015127-Alternative-T;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative T tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ATAGCGATGAGT CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAatagcgatgagtAGATCGAGACCCGACGC chr3:170015127-Alternative-T;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative T tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattggg CGGTCAACTATA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacTggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAcggtcaactataAGATCGAGACCCGACGC chr3:170015127-Alternative-T;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Reference A tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ACCTAAGCATCA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAacctaagcatcaAGATCGAGACCCGACGC chr3:170015127-Reference-A;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Reference A tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattggg AACTATGAAGCG CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAaactatgaagcgAGATCGAGACCCGACGC chr3:170015127-Reference-A;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Variant G tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattggg AGCTAAGCGCAT CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacGggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAagctaagcgcatAGATCGAGACCCGACGC chr3:170015127-Variant-G;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative C tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattggg CGTACGGCAAGA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAcgtacggcaagaAGATCGAGACCCGACGC chr3:170015127-Alternative-C;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Reference A tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ACATGTCTATCG CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAacatgtctatcgAGATCGAGACCCGACGC chr3:170015127-Reference-A;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Reference A tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattggg GGTTCCGTATGG CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacAggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAggttccgtatggAGATCGAGACCCGACGC chr3:170015127-Reference-A;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative C tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattggg AGATAATCGGAG CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAagataatcggagAGATCGAGACCCGACGC chr3:170015127-Alternative-C;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative C tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattggg CTGGCATGTATA CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAActggcatgtataAGATCGAGACCCGACGC chr3:170015127-Alternative-C;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative C tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ATTGCGGAGGAC CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAattgcggaggacAGATCGAGACCCGACGC chr3:170015127-Alternative-C;Patient-43 chr3:170015127-AG DeNovo Patient-43 synonymous PRKCI NA 4.95e-05 0.73 11.35 1.4 SKIL 60345 Alternative C tttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattggg ACTGAATTCGAG CGACGCGGTCTCTCTCTtttctttcaccataggaccctaaggaacgattgggttgtcatcctcaaacCggatttgctgatattcagggacacccgttcttccgaaatgttgattgggAGAGGGAGACGGACGTCTCAATAAactgaattcgagAGATCGAGACCCGACGC chr3:170015127-Alternative-C;Patient-43 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Variant C aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttca CGTAACCACGTC CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAcgtaaccacgtcAGATCGAGACCCGACGC chr3:170647299-Variant-C;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Variant C aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttca GTTCGACTAACA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgttcgactaacaAGATCGAGACCCGACGC chr3:170647299-Variant-C;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Variant C aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttca GACGAACACATA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgacgaacacataAGATCGAGACCCGACGC chr3:170647299-Variant-C;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Variant C aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttca GAGTGTCTGTCG CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgagtgtctgtcgAGATCGAGACCCGACGC chr3:170647299-Variant-C;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative A aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttca ATCGGAGATCAT CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAatcggagatcatAGATCGAGACCCGACGC chr3:170647299-Alternative-A;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Variant C aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttca ATAATGCGATCG CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaCatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAataatgcgatcgAGATCGAGACCCGACGC chr3:170647299-Variant-C;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative A aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttca AAGGTTCGGTAA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAaaggttcggtaaAGATCGAGACCCGACGC chr3:170647299-Alternative-A;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative A aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttca CGCAAGTAGAGT CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAcgcaagtagagtAGATCGAGACCCGACGC chr3:170647299-Alternative-A;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative A aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttca CTCTCTGACGAC CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAActctctgacgacAGATCGAGACCCGACGC chr3:170647299-Alternative-A;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative A aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttca ATCGGTGGATGG CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaAatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAatcggtggatggAGATCGAGACCCGACGC chr3:170647299-Alternative-A;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative G aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttca AGCTGAATACGC CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAagctgaatacgcAGATCGAGACCCGACGC chr3:170647299-Alternative-G;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Reference T aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttca CGAACCTAACCG CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAcgaacctaaccgAGATCGAGACCCGACGC chr3:170647299-Reference-T;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative G aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttca GTCTATAGCCGG CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgtctatagccggAGATCGAGACCCGACGC chr3:170647299-Alternative-G;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Reference T aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttca GTGTCGGCAATC CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgtgtcggcaatcAGATCGAGACCCGACGC chr3:170647299-Reference-T;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative G aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttca CACTTCCGTCGA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAcacttccgtcgaAGATCGAGACCCGACGC chr3:170647299-Alternative-G;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Reference T aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttca ACGCCACGTATA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAacgccacgtataAGATCGAGACCCGACGC chr3:170647299-Reference-T;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative G aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttca GCGGTGGAACTA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAgcggtggaactaAGATCGAGACCCGACGC chr3:170647299-Alternative-G;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Reference T aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttca AAGCAATCCGAA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAaagcaatccgaaAGATCGAGACCCGACGC chr3:170647299-Reference-T;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Reference T aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttca ACTTCAATCCGT CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaTatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAacttcaatccgtAGATCGAGACCCGACGC chr3:170647299-Reference-T;Patient-21 chr3:170647299-TC DeNovo Patient-21 intergenic NA 0.000513 -0.19 0.74 0 SLC2A2 97468 Alternative G aatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttca AAGTCCGGCGAA CGACGCGGTCTCTCTCTaatctgaatgttggcctgccttgctaggttggggaagttctcctggataaGatcctacagagtgttttccaacttggttccattctccctgtcactttcaAGAGGGAGACGGACGTCTCAATAAaagtccggcgaaAGATCGAGACCCGACGC chr3:170647299-Alternative-G;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative G ccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GTATTCGGCATA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAgtattcggcataAGATCGAGACCCGACGC chr3:170647317-Alternative-G;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative G ccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CACGAATACGTT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcacgaatacgttAGATCGAGACCCGACGC chr3:170647317-Alternative-G;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Variant T ccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CGTTAGGCTACG CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcgttaggctacgAGATCGAGACCCGACGC chr3:170647317-Variant-T;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative G ccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt AGTTGATCGCCT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAagttgatcgcctAGATCGAGACCCGACGC chr3:170647317-Alternative-G;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Reference C ccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CATGAAGATGGT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcatgaagatggtAGATCGAGACCCGACGC chr3:170647317-Reference-C;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative A ccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt ACATCGTTGGAT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAacatcgttggatAGATCGAGACCCGACGC chr3:170647317-Alternative-A;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative A ccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CTAAGATACCAC CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAActaagataccacAGATCGAGACCCGACGC chr3:170647317-Alternative-A;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative G ccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CGAAGAGTACTA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcgaagagtactaAGATCGAGACCCGACGC chr3:170647317-Alternative-G;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative A ccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt AAGTTGGTACGA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAaagttggtacgaAGATCGAGACCCGACGC chr3:170647317-Alternative-A;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Variant T ccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CAACAGATGGAG CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcaacagatggagAGATCGAGACCCGACGC chr3:170647317-Variant-T;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Reference C ccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GGATGAACCGTT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAggatgaaccgttAGATCGAGACCCGACGC chr3:170647317-Reference-C;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative A ccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt AATGACACGTGA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAaatgacacgtgaAGATCGAGACCCGACGC chr3:170647317-Alternative-A;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Variant T ccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GCGGATCTCAGA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAgcggatctcagaAGATCGAGACCCGACGC chr3:170647317-Variant-T;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative A ccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CGGCTTATGTGG CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttAcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcggcttatgtggAGATCGAGACCCGACGC chr3:170647317-Alternative-A;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Variant T ccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt AACGCTATGAGA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAaacgctatgagaAGATCGAGACCCGACGC chr3:170647317-Variant-T;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Reference C ccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt AAGACCGCGAAT CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAaagaccgcgaatAGATCGAGACCCGACGC chr3:170647317-Reference-C;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Reference C ccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GAGTTAGCGTTA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAgagttagcgttaAGATCGAGACCCGACGC chr3:170647317-Reference-C;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Reference C ccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GCGGTCATCTAC CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttCcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAgcggtcatctacAGATCGAGACCCGACGC chr3:170647317-Reference-C;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Variant T ccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt GGCGATAGCTGA CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttTcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAggcgatagctgaAGATCGAGACCCGACGC chr3:170647317-Variant-T;Patient-21 chr3:170647317-CT DeNovo Patient-21 intergenic NA 0.000513 -0.27 0.44 0 SLC2A2 97450 Alternative G ccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgt CATCTACTACAC CGACGCGGTCTCTCTCTccttgctaggttggggaagttctcctggataatatcctacagagtgttttGcaacttggttccattctccctgtcactttcaggtacaccaatcagatgtAGAGGGAGACGGACGTCTCAATAAcatctactacacAGATCGAGACCCGACGC chr3:170647317-Alternative-G;Patient-21 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Variant C taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GCAGTTGACTAT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAgcagttgactatAGATCGAGACCCGACGC chr3:173022099-Variant-C;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Variant C taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt ATCCGACCAACG CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAatccgaccaacgAGATCGAGACCCGACGC chr3:173022099-Variant-C;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Variant C taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt CACAGCTTGGAC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAcacagcttggacAGATCGAGACCCGACGC chr3:173022099-Variant-C;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Variant C taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt ACTCTACTACAC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAactctactacacAGATCGAGACCCGACGC chr3:173022099-Variant-C;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Variant C taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GGAGGTACCGAA CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatCgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAggaggtaccgaaAGATCGAGACCCGACGC chr3:173022099-Variant-C;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative A taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt CGTCCACTAGTC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAcgtccactagtcAGATCGAGACCCGACGC chr3:173022099-Alternative-A;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative A taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GATGCGTCATTA CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAgatgcgtcattaAGATCGAGACCCGACGC chr3:173022099-Alternative-A;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative A taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AGCCGTGTACGA CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAagccgtgtacgaAGATCGAGACCCGACGC chr3:173022099-Alternative-A;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative A taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt CGTGTTAGTTCT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAcgtgttagttctAGATCGAGACCCGACGC chr3:173022099-Alternative-A;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative G taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GCAGTGCTACAC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAgcagtgctacacAGATCGAGACCCGACGC chr3:173022099-Alternative-G;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative G taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt ATCGAATCGACC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAatcgaatcgaccAGATCGAGACCCGACGC chr3:173022099-Alternative-G;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Reference T taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AATAGGAGCGTT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAaataggagcgttAGATCGAGACCCGACGC chr3:173022099-Reference-T;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative A taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GAGTTGTTGGAA CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatAgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAgagttgttggaaAGATCGAGACCCGACGC chr3:173022099-Alternative-A;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative G taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AGTCGCATTAGT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAagtcgcattagtAGATCGAGACCCGACGC chr3:173022099-Alternative-G;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative G taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AGTAAGCCTTCG CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAagtaagccttcgAGATCGAGACCCGACGC chr3:173022099-Alternative-G;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Reference T taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AGCTTGACCATT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAagcttgaccattAGATCGAGACCCGACGC chr3:173022099-Reference-T;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Alternative G taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt AGCCTTAGCCAT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatGgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAagccttagccatAGATCGAGACCCGACGC chr3:173022099-Alternative-G;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Reference T taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt CGTTAGCTACGC CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAcgttagctacgcAGATCGAGACCCGACGC chr3:173022099-Reference-T;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Reference T taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GTGTATGTTGGT CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAgtgtatgttggtAGATCGAGACCCGACGC chr3:173022099-Reference-T;Patient-30 chr3:173022099-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA NLGN1 94138 Reference T taaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggt GGTTCAATCGCG CGACGCGGTCTCTCTCTtaaatgtgatcttacatgtcaaggtatataaactgtaaagtaatacacatTgcaatatttatcttcctaaagttttacataccatgtacctacagtgggtAGAGGGAGACGGACGTCTCAATAAggttcaatcgcgAGATCGAGACCCGACGC chr3:173022099-Reference-T;Patient-30 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Variant G acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta CTACCGACCTAA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAActaccgacctaaAGATCGAGACCCGACGC chr3:176906826-Variant-G;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Variant G acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta CAATGGCTCGCA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAcaatggctcgcaAGATCGAGACCCGACGC chr3:176906826-Variant-G;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Variant G acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta ATACCGCTCATT CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAataccgctcattAGATCGAGACCCGACGC chr3:176906826-Variant-G;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Variant G acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GACTAATTCGGT CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAgactaattcggtAGATCGAGACCCGACGC chr3:176906826-Variant-G;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Variant G acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GGTCGTTGTGCA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcGctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAggtcgttgtgcaAGATCGAGACCCGACGC chr3:176906826-Variant-G;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Reference T acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GGTATGACGAAG CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAggtatgacgaagAGATCGAGACCCGACGC chr3:176906826-Reference-T;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative A acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta ACCTGGCGTGAA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAacctggcgtgaaAGATCGAGACCCGACGC chr3:176906826-Alternative-A;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative A acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta CAAGTTACACAG CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAcaagttacacagAGATCGAGACCCGACGC chr3:176906826-Alternative-A;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Reference T acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GTGTAGCCACGT CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAgtgtagccacgtAGATCGAGACCCGACGC chr3:176906826-Reference-T;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Reference T acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GGCCGTGATAAC CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAggccgtgataacAGATCGAGACCCGACGC chr3:176906826-Reference-T;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative A acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta CGTGTTGGAACA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAcgtgttggaacaAGATCGAGACCCGACGC chr3:176906826-Alternative-A;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative C acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GAAGTTACGAAC CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAgaagttacgaacAGATCGAGACCCGACGC chr3:176906826-Alternative-C;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative A acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta GTCAGTTCGTGG CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAgtcagttcgtggAGATCGAGACCCGACGC chr3:176906826-Alternative-A;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative C acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta AGCTCACTTGGT CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAagctcacttggtAGATCGAGACCCGACGC chr3:176906826-Alternative-C;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative C acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta ACCTTCACTTCT CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAaccttcacttctAGATCGAGACCCGACGC chr3:176906826-Alternative-C;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative C acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta ACCTATCGAAGG CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAacctatcgaaggAGATCGAGACCCGACGC chr3:176906826-Alternative-C;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative A acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta ATTGGCCGAAGG CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcActactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAattggccgaaggAGATCGAGACCCGACGC chr3:176906826-Alternative-A;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Reference T acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta AATGTTCGGTAC CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAaatgttcggtacAGATCGAGACCCGACGC chr3:176906826-Reference-T;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Alternative C acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta AGGTAACGCATA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcCctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAaggtaacgcataAGATCGAGACCCGACGC chr3:176906826-Alternative-C;Patient-23 chr3:176906826-TG DeNovo Patient-23 intronic TBL1XR1 NA 0.00016 -0.06 1.86 0.12 TBL1XR1 8221 Reference T acgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgta CGAAGTTCATCA CGACGCGGTCTCTCTCTacgaggtcaggggttcaagaccagcctggccaacataacgaaaccctatcTctactaaaaatacaaaaaaattagccgggcatggtggcacgttcctgtaAGAGGGAGACGGACGTCTCAATAAcgaagttcatcaAGATCGAGACCCGACGC chr3:176906826-Reference-T;Patient-23 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative G gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga CGTGGAGCTCTA CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAcgtggagctctaAGATCGAGACCCGACGC chr3:176937983-Alternative-G;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative G gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GTAATCCGTGCG CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgtaatccgtgcgAGATCGAGACCCGACGC chr3:176937983-Alternative-G;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative G gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GTATCCGATATC CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgtatccgatatcAGATCGAGACCCGACGC chr3:176937983-Alternative-G;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative G gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga ACTGAACATCGT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAactgaacatcgtAGATCGAGACCCGACGC chr3:176937983-Alternative-G;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative G gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GTGTTAGCATCG CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttGacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgtgttagcatcgAGATCGAGACCCGACGC chr3:176937983-Alternative-G;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Reference T gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga CTGTCGGTCGAA CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAActgtcggtcgaaAGATCGAGACCCGACGC chr3:176937983-Reference-T;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Reference T gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GAAGTGTAGGCG CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgaagtgtaggcgAGATCGAGACCCGACGC chr3:176937983-Reference-T;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Reference T gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GCGGATAAGTAA CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgcggataagtaaAGATCGAGACCCGACGC chr3:176937983-Reference-T;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Reference T gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga CGTCGTTCTGGT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAcgtcgttctggtAGATCGAGACCCGACGC chr3:176937983-Reference-T;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative A gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga ACCTATAGCATC CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAacctatagcatcAGATCGAGACCCGACGC chr3:176937983-Alternative-A;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative A gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga AGTAGATGCGGC CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAagtagatgcggcAGATCGAGACCCGACGC chr3:176937983-Alternative-A;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Reference T gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GTGCCAGACGTT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttTacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgtgccagacgttAGATCGAGACCCGACGC chr3:176937983-Reference-T;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative A gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga ACAAGACTGCCG CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAacaagactgccgAGATCGAGACCCGACGC chr3:176937983-Alternative-A;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Variant C gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga ACATCAATTCGG CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAacatcaattcggAGATCGAGACCCGACGC chr3:176937983-Variant-C;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative A gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga CGGACGGCTAAT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAcggacggctaatAGATCGAGACCCGACGC chr3:176937983-Alternative-A;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Variant C gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GATGCAATAGGT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgatgcaataggtAGATCGAGACCCGACGC chr3:176937983-Variant-C;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Variant C gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GCGTGTGGAGAT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAgcgtgtggagatAGATCGAGACCCGACGC chr3:176937983-Variant-C;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Alternative A gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga AAGGCGGTTGCT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttAacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAaaggcggttgctAGATCGAGACCCGACGC chr3:176937983-Alternative-A;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Variant C gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga GGACCTAGCTGT CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAAggacctagctgtAGATCGAGACCCGACGC chr3:176937983-Variant-C;Patient-89 chr3:176937983-TC Inherited Patient-89 intergenic NA 0.000512821 1.26 14.75 4.04 TBL1XR1 22934 Variant C gttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatga CTCATTCAGCCA CGACGCGGTCTCTCTCTgttttcttcaaccatagttttgtgattcagcattcataaaataaatcgttCacaatttgggcgaaataacatcaggttcctgcagggctatagaaaatgaAGAGGGAGACGGACGTCTCAATAActcattcagccaAGATCGAGACCCGACGC chr3:176937983-Variant-C;Patient-89 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative T ctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GTCATGGTTGAT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgtcatggttgatAGATCGAGACCCGACGC chr3:176946157-Alternative-T;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Variant G ctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc AAGTGATCGTCT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAaagtgatcgtctAGATCGAGACCCGACGC chr3:176946157-Variant-G;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Variant G ctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GTATCAGTGCCG CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgtatcagtgccgAGATCGAGACCCGACGC chr3:176946157-Variant-G;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative A ctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc ACCGCTTGATAA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAaccgcttgataaAGATCGAGACCCGACGC chr3:176946157-Alternative-A;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative T ctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc AGATCGCTATCA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAagatcgctatcaAGATCGAGACCCGACGC chr3:176946157-Alternative-T;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative A ctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc AACCGGCGGTAT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAaaccggcggtatAGATCGAGACCCGACGC chr3:176946157-Alternative-A;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative T ctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GGATGGACGCAT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAggatggacgcatAGATCGAGACCCGACGC chr3:176946157-Alternative-T;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative T ctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc ATCGTATGCTGA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAatcgtatgctgaAGATCGAGACCCGACGC chr3:176946157-Alternative-T;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative A ctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CGTCGACTTGCT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAcgtcgacttgctAGATCGAGACCCGACGC chr3:176946157-Alternative-A;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative T ctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CAACGCATAAGA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccTccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAcaacgcataagaAGATCGAGACCCGACGC chr3:176946157-Alternative-T;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative A ctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GTATCAAGCTGT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgtatcaagctgtAGATCGAGACCCGACGC chr3:176946157-Alternative-A;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Variant G ctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CATCAGTTGAGT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAcatcagttgagtAGATCGAGACCCGACGC chr3:176946157-Variant-G;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Variant G ctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CTGCGTCGTTCA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAActgcgtcgttcaAGATCGAGACCCGACGC chr3:176946157-Variant-G;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Reference C ctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GTACTGCGCCAA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgtactgcgccaaAGATCGAGACCCGACGC chr3:176946157-Reference-C;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Alternative A ctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc AGGTTATCGTGT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccAccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAaggttatcgtgtAGATCGAGACCCGACGC chr3:176946157-Alternative-A;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Reference C ctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CGAATTCCTAGT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAcgaattcctagtAGATCGAGACCCGACGC chr3:176946157-Reference-C;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Reference C ctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc CTCTATCGTGCG CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAActctatcgtgcgAGATCGAGACCCGACGC chr3:176946157-Reference-C;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Variant G ctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GGACCATCAATT CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccGccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAggaccatcaattAGATCGAGACCCGACGC chr3:176946157-Variant-G;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Reference C ctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GATGGACGATTA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgatggacgattaAGATCGAGACCCGACGC chr3:176946157-Reference-C;Patient-3 chr3:176946157-CG DeNovo Patient-3 intergenic NA 0.000513 -0.08 1.63 0 TBL1XR1 31108 Reference C ctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctc GTGATCAGGTTA CGACGCGGTCTCTCTCTctagacacagagttctgattggtgcatccacgaaccacccccccccccccCccccccccgagctagacacagagtgctgattggtgcgtttacaatcctcAGAGGGAGACGGACGTCTCAATAAgtgatcaggttaAGATCGAGACCCGACGC chr3:176946157-Reference-C;Patient-3 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative G ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagt CTACGTGAACGT CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAActacgtgaacgtAGATCGAGACCCGACGC chr3:178254303-Alternative-G;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Reference C ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagt CTCTTAGCTACG CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAActcttagctacgAGATCGAGACCCGACGC chr3:178254303-Reference-C;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Variant T ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagt ACTGGTCTGACG CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAactggtctgacgAGATCGAGACCCGACGC chr3:178254303-Variant-T;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative G ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagt CATCAATACGGC CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcatcaatacggcAGATCGAGACCCGACGC chr3:178254303-Alternative-G;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative A ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagt CGAATAGACGGC CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcgaatagacggcAGATCGAGACCCGACGC chr3:178254303-Alternative-A;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative A ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagt CTAACGCGCGAA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAActaacgcgcgaaAGATCGAGACCCGACGC chr3:178254303-Alternative-A;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Variant T ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagt ATACGCGTGCGT CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAatacgcgtgcgtAGATCGAGACCCGACGC chr3:178254303-Variant-T;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Variant T ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagt CACGTACCAGTC CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcacgtaccagtcAGATCGAGACCCGACGC chr3:178254303-Variant-T;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative G ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagt GACGGCTGAGAT CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAgacggctgagatAGATCGAGACCCGACGC chr3:178254303-Alternative-G;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative A ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagt ACCGCCTTCTGA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAaccgccttctgaAGATCGAGACCCGACGC chr3:178254303-Alternative-A;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative A ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagt CATCTACGGACG CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcatctacggacgAGATCGAGACCCGACGC chr3:178254303-Alternative-A;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Variant T ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagt CGGCCAAGATGA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcggccaagatgaAGATCGAGACCCGACGC chr3:178254303-Variant-T;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative G ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagt AACCAAGCATGA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAaaccaagcatgaAGATCGAGACCCGACGC chr3:178254303-Alternative-G;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Reference C ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagt AACTCAACGAGA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAaactcaacgagaAGATCGAGACCCGACGC chr3:178254303-Reference-C;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative G ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagt CACGGTAGTAAT CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcGttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcacggtagtaatAGATCGAGACCCGACGC chr3:178254303-Alternative-G;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Variant T ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagt CGTGGTTCTGAG CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcTttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAcgtggttctgagAGATCGAGACCCGACGC chr3:178254303-Variant-T;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Reference C ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagt GCATCGAGCCAA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAgcatcgagccaaAGATCGAGACCCGACGC chr3:178254303-Reference-C;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Reference C ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagt AGCGTAAGGCGA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAagcgtaaggcgaAGATCGAGACCCGACGC chr3:178254303-Reference-C;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Alternative A ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagt ACGTTCGCAATA CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcAttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAacgttcgcaataAGATCGAGACCCGACGC chr3:178254303-Alternative-A;Patient-4 chr3:178254303-CT DeNovo Patient-4 5 prime UTR KCNMB2 NA 0.00016 2.33 22.1 5.77 KCNMB2 216 Reference C ataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagt AGCATGTTGCAT CGACGCGGTCTCTCTCTataactaatttcaagcatggctgtctagcgtgcctgtcactcctattgtcCttccaaactctttcagacattttgagcagggagtattaaagctatgagtAGAGGGAGACGGACGTCTCAATAAagcatgttgcatAGATCGAGACCCGACGC chr3:178254303-Reference-C;Patient-4 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative A aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctatt AATCGGCCATGG CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAaatcggccatggAGATCGAGACCCGACGC chr3:178342320-Alternative-A;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative A aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctatt CATTAGGTCGAT CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAcattaggtcgatAGATCGAGACCCGACGC chr3:178342320-Alternative-A;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Reference C aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctatt CTACCGGTGTAC CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAActaccggtgtacAGATCGAGACCCGACGC chr3:178342320-Reference-C;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Reference C aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctatt GCAAGTTACAAC CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgcaagttacaacAGATCGAGACCCGACGC chr3:178342320-Reference-C;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative A aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctatt CTGTCATCGGAG CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAActgtcatcggagAGATCGAGACCCGACGC chr3:178342320-Alternative-A;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Reference C aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctatt CACTATGTCGTT CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAcactatgtcgttAGATCGAGACCCGACGC chr3:178342320-Reference-C;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Variant T aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctatt CTAACGATCCAA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAActaacgatccaaAGATCGAGACCCGACGC chr3:178342320-Variant-T;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Variant T aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctatt GATCGTACCAAT CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgatcgtaccaatAGATCGAGACCCGACGC chr3:178342320-Variant-T;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Variant T aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctatt ATCCTACGGTGG CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAatcctacggtggAGATCGAGACCCGACGC chr3:178342320-Variant-T;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative A aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctatt ACGCGGACTTCT CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAacgcggacttctAGATCGAGACCCGACGC chr3:178342320-Alternative-A;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative A aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctatt GGTTCTGGATCG CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttAataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAggttctggatcgAGATCGAGACCCGACGC chr3:178342320-Alternative-A;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Reference C aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctatt GGTGTATTCGGC CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAggtgtattcggcAGATCGAGACCCGACGC chr3:178342320-Reference-C;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative G aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctatt GATGCGATAACA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgatgcgataacaAGATCGAGACCCGACGC chr3:178342320-Alternative-G;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Reference C aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctatt CAACGGTAGTTA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttCataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAcaacggtagttaAGATCGAGACCCGACGC chr3:178342320-Reference-C;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Variant T aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctatt ACTTGCTACATC CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAacttgctacatcAGATCGAGACCCGACGC chr3:178342320-Variant-T;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative G aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctatt AGCGTTGTTGCG CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAagcgttgttgcgAGATCGAGACCCGACGC chr3:178342320-Alternative-G;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Variant T aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctatt GCCGCTCTATAC CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttTataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgccgctctatacAGATCGAGACCCGACGC chr3:178342320-Variant-T;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative G aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctatt GTAGCGAGCTAA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgtagcgagctaaAGATCGAGACCCGACGC chr3:178342320-Alternative-G;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative G aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctatt CAGCAGTAGATA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAcagcagtagataAGATCGAGACCCGACGC chr3:178342320-Alternative-G;Patient-89 chr3:178342320-CT DeNovo Patient-89 intronic KCNMB2 NA 0.00016 0.06 3.61 -2.01 KCNMB2 88233 Alternative G aacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctatt GATGAGTACTGA CGACGCGGTCTCTCTCTaacacattatttatcaagtgtgatccatttgacctctatgttagtaatttGataatatcttgaattgggggcttttagaaagattcagtagctttctattAGAGGGAGACGGACGTCTCAATAAgatgagtactgaAGATCGAGACCCGACGC chr3:178342320-Alternative-G;Patient-89 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Reference C tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttct GTCGCTGTTCCA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAgtcgctgttccaAGATCGAGACCCGACGC chr3:179361063-Reference-C;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Variant T tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttct CGTGAACAAGCA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAcgtgaacaagcaAGATCGAGACCCGACGC chr3:179361063-Variant-T;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Variant T tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttct GAGCTACGTAGG CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAgagctacgtaggAGATCGAGACCCGACGC chr3:179361063-Variant-T;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Reference C tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttct GCGATAGTTACA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAgcgatagttacaAGATCGAGACCCGACGC chr3:179361063-Reference-C;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Variant T tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttct GGCGTGGCTATT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAggcgtggctattAGATCGAGACCCGACGC chr3:179361063-Variant-T;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Variant T tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttct CATCGGTTCTAA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAcatcggttctaaAGATCGAGACCCGACGC chr3:179361063-Variant-T;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative G tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttct AGCGTAGCATAA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAagcgtagcataaAGATCGAGACCCGACGC chr3:179361063-Alternative-G;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative G tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttct CAGGATTCTACG CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAcaggattctacgAGATCGAGACCCGACGC chr3:179361063-Alternative-G;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative G tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttct GGACTTGCGGTT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAggacttgcggttAGATCGAGACCCGACGC chr3:179361063-Alternative-G;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative G tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttct ACGACTTCTTGT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAacgacttcttgtAGATCGAGACCCGACGC chr3:179361063-Alternative-G;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Variant T tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttct GAGGTGGCGTTA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcTcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAgaggtggcgttaAGATCGAGACCCGACGC chr3:179361063-Variant-T;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative A tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttct AGTACGACTAGA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAagtacgactagaAGATCGAGACCCGACGC chr3:179361063-Alternative-A;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative A tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttct ACTTCCGTACTT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAacttccgtacttAGATCGAGACCCGACGC chr3:179361063-Alternative-A;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative G tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttct AATGAGTCGGAT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcGcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAaatgagtcggatAGATCGAGACCCGACGC chr3:179361063-Alternative-G;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative A tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttct ATATGCGGTGTT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAatatgcggtgttAGATCGAGACCCGACGC chr3:179361063-Alternative-A;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative A tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttct GGTTGAACCGAA CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAggttgaaccgaaAGATCGAGACCCGACGC chr3:179361063-Alternative-A;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Reference C tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttct ACACATCAGGTT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAacacatcaggttAGATCGAGACCCGACGC chr3:179361063-Reference-C;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Reference C tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttct AGGCACGGAATT CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAaggcacggaattAGATCGAGACCCGACGC chr3:179361063-Reference-C;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Reference C tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttct CGACTGGCAATC CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcCcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAcgactggcaatcAGATCGAGACCCGACGC chr3:179361063-Reference-C;Patient-61 chr3:179361063-CT Inherited Patient-61 intergenic NA 0.000513 -0.08 1.63 0.64 ACTL6A 80354 Alternative A tacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttct GTTGGTCGAATC CGACGCGGTCTCTCTCTtacagcaaaactggctcagagcaaaactggagccagttggaatgccattcAcatctgccagcatggaggcttattgggggctgagtatatatggggttctAGAGGGAGACGGACGTCTCAATAAgttggtcgaatcAGATCGAGACCCGACGC chr3:179361063-Alternative-A;Patient-61 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative C atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac AGGAACTCGCAC CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAaggaactcgcacAGATCGAGACCCGACGC chr3:179399416-Alternative-C;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative C atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac ATCGGACGCTTA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAatcggacgcttaAGATCGAGACCCGACGC chr3:179399416-Alternative-C;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Variant G atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CTGCTTGTTAGT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAActgcttgttagtAGATCGAGACCCGACGC chr3:179399416-Variant-G;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Reference T atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GGACCGTATCGT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAggaccgtatcgtAGATCGAGACCCGACGC chr3:179399416-Reference-T;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Variant G atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CATCTGGTTGTT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAcatctggttgttAGATCGAGACCCGACGC chr3:179399416-Variant-G;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative C atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GATCCTATACGA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgatcctatacgaAGATCGAGACCCGACGC chr3:179399416-Alternative-C;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Reference T atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CTGCGATTCACG CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAActgcgattcacgAGATCGAGACCCGACGC chr3:179399416-Reference-T;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative A atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GTGTCTGTTAAC CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgtgtctgttaacAGATCGAGACCCGACGC chr3:179399416-Alternative-A;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative A atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac AGCTCAATGCGA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAagctcaatgcgaAGATCGAGACCCGACGC chr3:179399416-Alternative-A;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Variant G atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CATATAGGCTGT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAcatataggctgtAGATCGAGACCCGACGC chr3:179399416-Variant-G;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Reference T atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GTAGATGCGGCA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgtagatgcggcaAGATCGAGACCCGACGC chr3:179399416-Reference-T;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Variant G atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CTGAATTGCACA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAActgaattgcacaAGATCGAGACCCGACGC chr3:179399416-Variant-G;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Variant G atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac ACGCAGCTATAC CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacGagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAacgcagctatacAGATCGAGACCCGACGC chr3:179399416-Variant-G;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative C atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac ATTACGCGAACT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAattacgcgaactAGATCGAGACCCGACGC chr3:179399416-Alternative-C;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative A atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GCGCTATAAGCG CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgcgctataagcgAGATCGAGACCCGACGC chr3:179399416-Alternative-A;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative A atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GATACGAGCGCA CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgatacgagcgcaAGATCGAGACCCGACGC chr3:179399416-Alternative-A;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative A atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CACATCAGGCCT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacAagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAcacatcaggcctAGATCGAGACCCGACGC chr3:179399416-Alternative-A;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Reference T atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac CGAATGGCTCGT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAcgaatggctcgtAGATCGAGACCCGACGC chr3:179399416-Reference-T;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Reference T atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac GTTGAACTAAGG CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacTagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAgttgaactaaggAGATCGAGACCCGACGC chr3:179399416-Reference-T;Patient-48 chr3:179399416-TG DeNovo Patient-48 intronic USP13 NA 0.000146 0.23 6.26 0.05 USP13 28482 Alternative C atatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaac AATACGGCGCCT CGACGCGGTCTCTCTCTatatcttatcagtaggtacattcctggacgtgctttgagtcagtttacacCagttacgccttaagggaggggggtgaaagggggctgcaagtgaagaaacAGAGGGAGACGGACGTCTCAATAAaatacggcgcctAGATCGAGACCCGACGC chr3:179399416-Alternative-C;Patient-48 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Variant G tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg AAGTCGTCATCA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAaagtcgtcatcaAGATCGAGACCCGACGC chr3:179413746-Variant-G;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Variant G tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CTACGGCAATCG CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAActacggcaatcgAGATCGAGACCCGACGC chr3:179413746-Variant-G;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Variant G tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CTGTTATCGAGA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAActgttatcgagaAGATCGAGACCCGACGC chr3:179413746-Variant-G;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative A tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GCGGAAGGAGAA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgcggaaggagaaAGATCGAGACCCGACGC chr3:179413746-Alternative-A;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Reference T tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GTATAGGCTGAA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgtataggctgaaAGATCGAGACCCGACGC chr3:179413746-Reference-T;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative A tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg ACCGCCTCTTAA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAaccgcctcttaaAGATCGAGACCCGACGC chr3:179413746-Alternative-A;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative A tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GTGTTGTCGATA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgtgttgtcgataAGATCGAGACCCGACGC chr3:179413746-Alternative-A;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Reference T tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GGTCAAGCGCAT CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAggtcaagcgcatAGATCGAGACCCGACGC chr3:179413746-Reference-T;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Reference T tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CGTAGACGGTTC CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAcgtagacggttcAGATCGAGACCCGACGC chr3:179413746-Reference-T;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative A tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg AGTGCTAACAAG CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAagtgctaacaagAGATCGAGACCCGACGC chr3:179413746-Alternative-A;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative C tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CTCATTGAGACA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAActcattgagacaAGATCGAGACCCGACGC chr3:179413746-Alternative-C;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative C tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CTATGATGCCGG CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAActatgatgccggAGATCGAGACCCGACGC chr3:179413746-Alternative-C;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Reference T tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GCAGCTGATGAG CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgcagctgatgagAGATCGAGACCCGACGC chr3:179413746-Reference-T;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Reference T tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg AGATCCGACATC CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatTggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAagatccgacatcAGATCGAGACCCGACGC chr3:179413746-Reference-T;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative A tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg CGAGCTCCGATA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatAggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAcgagctccgataAGATCGAGACCCGACGC chr3:179413746-Alternative-A;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Variant G tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg AAGGCTCGCGAA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAaaggctcgcgaaAGATCGAGACCCGACGC chr3:179413746-Variant-G;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Variant G tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GTTCGCTATCAT CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatGggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgttcgctatcatAGATCGAGACCCGACGC chr3:179413746-Variant-G;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative C tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg ACCTCCTGATTA CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAacctcctgattaAGATCGAGACCCGACGC chr3:179413746-Alternative-C;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative C tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GGTTCGAGAACG CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAggttcgagaacgAGATCGAGACCCGACGC chr3:179413746-Alternative-C;Patient-104 chr3:179413746-TG DeNovo Patient-104 intronic USP13 0.000287 0.000144886 0.04 3.34 0.27 USP13 42812 Alternative C tgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattagg GCAGTACGCATC CGACGCGGTCTCTCTCTtgagctcaccagggcactgaaggatattttaagtctctgagggaacatatCggtgctcaaacattgcatgaactaaacacagtgtagttttactattaggAGAGGGAGACGGACGTCTCAATAAgcagtacgcatcAGATCGAGACCCGACGC chr3:179413746-Alternative-C;Patient-104 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Reference G ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa GGCTAGGTACGA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAggctaggtacgaAGATCGAGACCCGACGC chr3:179784505-Reference-G;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Reference G ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CTTACGCCTCGA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAActtacgcctcgaAGATCGAGACCCGACGC chr3:179784505-Reference-G;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Reference G ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa GGACGAGATGAG CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAggacgagatgagAGATCGAGACCCGACGC chr3:179784505-Reference-G;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Reference G ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa ACACGTAGACCG CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAacacgtagaccgAGATCGAGACCCGACGC chr3:179784505-Reference-G;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Reference G ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CAGTAGAGCGAC CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaGaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAcagtagagcgacAGATCGAGACCCGACGC chr3:179784505-Reference-G;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative T ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa GTGTCGCAGTAC CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAgtgtcgcagtacAGATCGAGACCCGACGC chr3:179784505-Alternative-T;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative T ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa AACTCTCTGAGA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAaactctctgagaAGATCGAGACCCGACGC chr3:179784505-Alternative-T;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative T ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa GGACTCGTTCCT CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAggactcgttcctAGATCGAGACCCGACGC chr3:179784505-Alternative-T;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative T ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CTATCGAGTACC CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAActatcgagtaccAGATCGAGACCCGACGC chr3:179784505-Alternative-T;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative A ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa ATCATCCATTCG CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAatcatccattcgAGATCGAGACCCGACGC chr3:179784505-Alternative-A;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative T ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa ACAACAAGATCG CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaTaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAacaacaagatcgAGATCGAGACCCGACGC chr3:179784505-Alternative-T;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Variant C ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa AACGCACGCGAA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAaacgcacgcgaaAGATCGAGACCCGACGC chr3:179784505-Variant-C;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative A ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa GCGCAACAACAC CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAgcgcaacaacacAGATCGAGACCCGACGC chr3:179784505-Alternative-A;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative A ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa AGTCTCGAAGTT CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAagtctcgaagttAGATCGAGACCCGACGC chr3:179784505-Alternative-A;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Variant C ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CACGCAAGGCTA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAcacgcaaggctaAGATCGAGACCCGACGC chr3:179784505-Variant-C;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Variant C ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CACACGGCAATA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAcacacggcaataAGATCGAGACCCGACGC chr3:179784505-Variant-C;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative A ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa ATTACTGGTCCT CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAattactggtcctAGATCGAGACCCGACGC chr3:179784505-Alternative-A;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Variant C ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa CGAATATCCTGA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAcgaatatcctgaAGATCGAGACCCGACGC chr3:179784505-Variant-C;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Variant C ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa AGCATCCGGTCT CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaCaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAagcatccggtctAGATCGAGACCCGACGC chr3:179784505-Variant-C;Patient-89 chr3:179784505-GC DeNovo Patient-89 intergenic NA 0.000513 2.04 19.58 4.61 PEX5L 29663 Alternative A ggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaa ATTCCTGCGTAA CGACGCGGTCTCTCTCTggtattcaatgaccttacaaaatagtaggagtttgattgactttttggaaAaatgaaaactgaacatgctcattcttattctcaaatctattggggaaaaAGAGGGAGACGGACGTCTCAATAAattcctgcgtaaAGATCGAGACCCGACGC chr3:179784505-Alternative-A;Patient-89 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative C aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GGCGCAATAAGT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAggcgcaataagtAGATCGAGACCCGACGC chr3:180578618-Alternative-C;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative C aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat CGCGTACATGCT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAcgcgtacatgctAGATCGAGACCCGACGC chr3:180578618-Alternative-C;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative C aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GACGTCAGATGG CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgacgtcagatggAGATCGAGACCCGACGC chr3:180578618-Alternative-C;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative C aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GCGGAATCGACT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgcggaatcgactAGATCGAGACCCGACGC chr3:180578618-Alternative-C;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Variant G aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat ACGTGGAGTACG CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAacgtggagtacgAGATCGAGACCCGACGC chr3:180578618-Variant-G;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Reference T aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat CGATAGCATGTT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAcgatagcatgttAGATCGAGACCCGACGC chr3:180578618-Reference-T;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Variant G aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GAGTCATATGGT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgagtcatatggtAGATCGAGACCCGACGC chr3:180578618-Variant-G;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Reference T aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat AGTGCCGAGCTA CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAagtgccgagctaAGATCGAGACCCGACGC chr3:180578618-Reference-T;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Reference T aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GTAAGCAGTACC CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgtaagcagtaccAGATCGAGACCCGACGC chr3:180578618-Reference-T;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Reference T aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat AACCGCTCGCTT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAaaccgctcgcttAGATCGAGACCCGACGC chr3:180578618-Reference-T;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Variant G aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat CTGTCCTACAAT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAActgtcctacaatAGATCGAGACCCGACGC chr3:180578618-Variant-G;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative C aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat CATCACGTCAAT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcCacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAcatcacgtcaatAGATCGAGACCCGACGC chr3:180578618-Alternative-C;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative A aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat AATAAGCGTGCA CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAaataagcgtgcaAGATCGAGACCCGACGC chr3:180578618-Alternative-A;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Reference T aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat ATAGCCATTGGT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcTacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAatagccattggtAGATCGAGACCCGACGC chr3:180578618-Reference-T;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative A aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat AGTCGTATTCGA CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAagtcgtattcgaAGATCGAGACCCGACGC chr3:180578618-Alternative-A;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative A aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat AATAGACAACGC CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAaatagacaacgcAGATCGAGACCCGACGC chr3:180578618-Alternative-A;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative A aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GAATCGCTAGCG CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgaatcgctagcgAGATCGAGACCCGACGC chr3:180578618-Alternative-A;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Variant G aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GTTCCAATCGTT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgttccaatcgttAGATCGAGACCCGACGC chr3:180578618-Variant-G;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Alternative A aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat GTCAGTAGGTTA CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcAacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAgtcagtaggttaAGATCGAGACCCGACGC chr3:180578618-Alternative-A;Patient-57 chr3:180578618-TG DeNovo Patient-57 intergenic NA 0.000513 -0.07 1.69 0 FXR1 51615 Variant G aataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaat ATCGTCCATTGT CGACGCGGTCTCTCTCTaataatcaagttgaaaatcaagtcaagaaggcaattctatttacaatagcGacaacacacacacacacacacccctaggaatacatgtaaccaaggaaatAGAGGGAGACGGACGTCTCAATAAatcgtccattgtAGATCGAGACCCGACGC chr3:180578618-Variant-G;Patient-57 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Variant G tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GATGTTCACGGC CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgatgttcacggcAGATCGAGACCCGACGC chr3:180677616-Variant-G;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Variant G tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GACGTTATCACA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgacgttatcacaAGATCGAGACCCGACGC chr3:180677616-Variant-G;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Variant G tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AACTCGTGCAAG CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAaactcgtgcaagAGATCGAGACCCGACGC chr3:180677616-Variant-G;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative T tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GTTCGTCGAGGT CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgttcgtcgaggtAGATCGAGACCCGACGC chr3:180677616-Alternative-T;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative T tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GTCGGATGACGA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgtcggatgacgaAGATCGAGACCCGACGC chr3:180677616-Alternative-T;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative A tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact CGCAAGATATAC CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAcgcaagatatacAGATCGAGACCCGACGC chr3:180677616-Alternative-A;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Reference C tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GTTAGCCTGCGA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgttagcctgcgaAGATCGAGACCCGACGC chr3:180677616-Reference-C;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Variant G tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact CGATGAGTGCTA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAcgatgagtgctaAGATCGAGACCCGACGC chr3:180677616-Variant-G;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Variant G tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AGTTGAGTACCT CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaGttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAagttgagtacctAGATCGAGACCCGACGC chr3:180677616-Variant-G;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Reference C tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AACTCTCGTGTT CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAaactctcgtgttAGATCGAGACCCGACGC chr3:180677616-Reference-C;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative T tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GTGCGAGCCATA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgtgcgagccataAGATCGAGACCCGACGC chr3:180677616-Alternative-T;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative A tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GATAGCTGTTGT CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgatagctgttgtAGATCGAGACCCGACGC chr3:180677616-Alternative-A;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Reference C tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact CGAACTCCTATC CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAcgaactcctatcAGATCGAGACCCGACGC chr3:180677616-Reference-C;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative A tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AAGCGTCTTGTT CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAaagcgtcttgttAGATCGAGACCCGACGC chr3:180677616-Alternative-A;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative T tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact CATTCGATACAG CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAcattcgatacagAGATCGAGACCCGACGC chr3:180677616-Alternative-T;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative A tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact CGCGAACCGTAA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAcgcgaaccgtaaAGATCGAGACCCGACGC chr3:180677616-Alternative-A;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative T tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AACAGCATCAAG CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaTttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAaacagcatcaagAGATCGAGACCCGACGC chr3:180677616-Alternative-T;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Alternative A tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact AGGAATTGGCCG CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaAttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAaggaattggccgAGATCGAGACCCGACGC chr3:180677616-Alternative-A;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Reference C tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GGTTCAACGGAG CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAggttcaacggagAGATCGAGACCCGACGC chr3:180677616-Reference-C;Patient-104 chr3:180677616-CG DeNovo Patient-104 intronic FXR1 NA 3.91e-05 0.35 7.84 1.45 DNAJC19 29945 Reference C tcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattact GAGATCGCACGA CGACGCGGTCTCTCTCTtcttcaaagccactgtgaacctctgtaatagctgtgctatatccctagcaCttgccctgttgcctaagttttaaatgaaccatatctaaaaatcattactAGAGGGAGACGGACGTCTCAATAAgagatcgcacgaAGATCGAGACCCGACGC chr3:180677616-Reference-C;Patient-104 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative T aaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg AAGTACTGCCAA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAaagtactgccaaAGATCGAGACCCGACGC chr3:184066694-Alternative-T;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative A aaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGAATTCGTCGG CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcgaattcgtcggAGATCGAGACCCGACGC chr3:184066694-Alternative-A;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative A aaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg ATCGATTCCGGC CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAatcgattccggcAGATCGAGACCCGACGC chr3:184066694-Alternative-A;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative T aaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGCAGATATCAT CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcgcagatatcatAGATCGAGACCCGACGC chr3:184066694-Alternative-T;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative A aaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg ACCGATTCAACG CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAaccgattcaacgAGATCGAGACCCGACGC chr3:184066694-Alternative-A;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative A aaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGCTCATAACTT CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcgctcataacttAGATCGAGACCCGACGC chr3:184066694-Alternative-A;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative A aaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGGAAGGTCGAA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgAggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcggaaggtcgaaAGATCGAGACCCGACGC chr3:184066694-Alternative-A;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Variant C aaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGCATACTTAGG CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcgcatacttaggAGATCGAGACCCGACGC chr3:184066694-Variant-C;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Variant C aaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg GTTAATTAGCGG CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAgttaattagcggAGATCGAGACCCGACGC chr3:184066694-Variant-C;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Variant C aaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg AATGAGGTCAGT CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAaatgaggtcagtAGATCGAGACCCGACGC chr3:184066694-Variant-C;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Variant C aaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CAGGCTATTATC CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcaggctattatcAGATCGAGACCCGACGC chr3:184066694-Variant-C;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Reference G aaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg GTGTAAGGCGAC CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAgtgtaaggcgacAGATCGAGACCCGACGC chr3:184066694-Reference-G;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Variant C aaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg ATCCTGGTCGTC CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgCggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAatcctggtcgtcAGATCGAGACCCGACGC chr3:184066694-Variant-C;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Reference G aaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CGTCTTCGCTGA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAcgtcttcgctgaAGATCGAGACCCGACGC chr3:184066694-Reference-G;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative T aaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg ATAAGGACCACA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAataaggaccacaAGATCGAGACCCGACGC chr3:184066694-Alternative-T;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Reference G aaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg AGCAAGTGTACA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAagcaagtgtacaAGATCGAGACCCGACGC chr3:184066694-Reference-G;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative T aaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg GCGCGTGGTATA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAgcgcgtggtataAGATCGAGACCCGACGC chr3:184066694-Alternative-T;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Alternative T aaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg CTAGTTCTACAC CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgTggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAActagttctacacAGATCGAGACCCGACGC chr3:184066694-Alternative-T;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Reference G aaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg ACGTAGATGTGA CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAacgtagatgtgaAGATCGAGACCCGACGC chr3:184066694-Reference-G;Patient-81 chr3:184066694-GC DeNovo Patient-81 intronic CLCN2 NA 9.9e-05 0.18 5.56 2.42 CLCN2 12744 Reference G aaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctg GTCTAGGTGCGT CGACGCGGTCTCTCTCTaaacatcctggccattactgactgtagcctcactatcctcactaagactgGggctgcaacagcctgatgggttctttctgcctcccttccctccagtctgAGAGGGAGACGGACGTCTCAATAAgtctaggtgcgtAGATCGAGACCCGACGC chr3:184066694-Reference-G;Patient-81 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Reference T gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg AGATTGAGATGG CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAagattgagatggAGATCGAGACCCGACGC chr3:184124275-Reference-T;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Reference T gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg GGATACACCTAT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAggatacacctatAGATCGAGACCCGACGC chr3:184124275-Reference-T;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Reference T gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CTCAAGCTCAGT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAActcaagctcagtAGATCGAGACCCGACGC chr3:184124275-Reference-T;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Variant C gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg AAGGCCGAACAG CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAaaggccgaacagAGATCGAGACCCGACGC chr3:184124275-Variant-C;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative G gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ATTACCTACGTC CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAattacctacgtcAGATCGAGACCCGACGC chr3:184124275-Alternative-G;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative A gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ACGACTAGGCCA CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAacgactaggccaAGATCGAGACCCGACGC chr3:184124275-Alternative-A;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative G gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CTAGCGTACAAG CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAActagcgtacaagAGATCGAGACCCGACGC chr3:184124275-Alternative-G;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative A gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CAACCGATAGCT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAcaaccgatagctAGATCGAGACCCGACGC chr3:184124275-Alternative-A;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Variant C gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ACTGTCTTAGTC CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAactgtcttagtcAGATCGAGACCCGACGC chr3:184124275-Variant-C;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative A gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ATCCGTTCCGGT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAatccgttccggtAGATCGAGACCCGACGC chr3:184124275-Alternative-A;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative A gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CAACGCGGTTCT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAcaacgcggttctAGATCGAGACCCGACGC chr3:184124275-Alternative-A;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Variant C gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ACGTACGCTACG CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAacgtacgctacgAGATCGAGACCCGACGC chr3:184124275-Variant-C;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative G gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg ATAGGCCTTAAC CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAataggccttaacAGATCGAGACCCGACGC chr3:184124275-Alternative-G;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative G gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg GGTACAATAGGT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAggtacaataggtAGATCGAGACCCGACGC chr3:184124275-Alternative-G;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Reference T gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CTGCTTGTTAAC CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAActgcttgttaacAGATCGAGACCCGACGC chr3:184124275-Reference-T;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Variant C gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg GAGATGGCTTAA CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAgagatggcttaaAGATCGAGACCCGACGC chr3:184124275-Variant-C;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Variant C gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CGGAAGCTTGGT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggCggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAcggaagcttggtAGATCGAGACCCGACGC chr3:184124275-Variant-C;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative G gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg GTAGGTACGTCG CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggGggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAgtaggtacgtcgAGATCGAGACCCGACGC chr3:184124275-Alternative-G;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Alternative A gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg AGTAGGTGATAC CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggAggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAAagtaggtgatacAGATCGAGACCCGACGC chr3:184124275-Alternative-A;Patient-24 chr3:184124275-TC Inherited Patient-24 intergenic 3.2e-05 0.000513 0.33 7.56 2.77 THPO 28342 Reference T gtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtg CTCTAGGCGGTT CGACGCGGTCTCTCTCTgtctccaagcattttgtgacaacttagttggcacaagggtgtctacagggTggtgtcgcttaactccactggccactgtgtgagtggggtgcggggggtgAGAGGGAGACGGACGTCTCAATAActctaggcggttAGATCGAGACCCGACGC chr3:184124275-Reference-T;Patient-24 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative C ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg ACTAATCTCGTC CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAactaatctcgtcAGATCGAGACCCGACGC chr3:184382966-Alternative-C;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative C ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AGTCATGGTAAG CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAagtcatggtaagAGATCGAGACCCGACGC chr3:184382966-Alternative-C;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative C ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg CTCGGATGATAT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAActcggatgatatAGATCGAGACCCGACGC chr3:184382966-Alternative-C;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative C ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg GCGATATGCCGA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAgcgatatgccgaAGATCGAGACCCGACGC chr3:184382966-Alternative-C;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative C ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg CGGTACTAAGTT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaCgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAcggtactaagttAGATCGAGACCCGACGC chr3:184382966-Alternative-C;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative A ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg GCGGTATAGTGG CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAgcggtatagtggAGATCGAGACCCGACGC chr3:184382966-Alternative-A;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Variant G ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg CACGAGCATATC CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAcacgagcatatcAGATCGAGACCCGACGC chr3:184382966-Variant-G;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Reference T ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg CAAGTTACGAGT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAcaagttacgagtAGATCGAGACCCGACGC chr3:184382966-Reference-T;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Variant G ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg ACTATGCTTGCT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAactatgcttgctAGATCGAGACCCGACGC chr3:184382966-Variant-G;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Variant G ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg GCATCAGAGCGA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAgcatcagagcgaAGATCGAGACCCGACGC chr3:184382966-Variant-G;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative A ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AAGTATCTGCCG CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAaagtatctgccgAGATCGAGACCCGACGC chr3:184382966-Alternative-A;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Reference T ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg ACTCCGACACGA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAactccgacacgaAGATCGAGACCCGACGC chr3:184382966-Reference-T;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Variant G ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg ACACGATCAAGA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAacacgatcaagaAGATCGAGACCCGACGC chr3:184382966-Variant-G;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative A ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AGTAGGATTACG CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAagtaggattacgAGATCGAGACCCGACGC chr3:184382966-Alternative-A;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Variant G ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg CGATAAGCCAGA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaGgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAcgataagccagaAGATCGAGACCCGACGC chr3:184382966-Variant-G;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Reference T ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AGCAAGGCTATA CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAagcaaggctataAGATCGAGACCCGACGC chr3:184382966-Reference-T;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Reference T ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AGATAGTCCACT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAagatagtccactAGATCGAGACCCGACGC chr3:184382966-Reference-T;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Reference T ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg AACGCGTCGCTT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaTgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAaacgcgtcgcttAGATCGAGACCCGACGC chr3:184382966-Reference-T;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative A ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg GTTGATAGTACC CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAgttgatagtaccAGATCGAGACCCGACGC chr3:184382966-Alternative-A;Patient-89 chr3:184382966-TG Inherited Patient-89 intergenic 6.4e-05 0.000513 -0.27 0.44 -3.18 MAGEF1 46869 Alternative A ccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacg ACTTCACCGAAT CGACGCGGTCTCTCTCTccccgcaccgccctctgcacacccgcatatggttgctggagctgcctacaAgttggtgtgttaaagctcctgccgccacaccccaggtgttcagtcaacgAGAGGGAGACGGACGTCTCAATAAacttcaccgaatAGATCGAGACCCGACGC chr3:184382966-Alternative-A;Patient-89 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative G ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgc AACGCCACGTGA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAaacgccacgtgaAGATCGAGACCCGACGC chr3:184462946-Alternative-G;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative G ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgc GACGCCGATAGA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAgacgccgatagaAGATCGAGACCCGACGC chr3:184462946-Alternative-G;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative G ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgc CAAGCGTATTGA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAcaagcgtattgaAGATCGAGACCCGACGC chr3:184462946-Alternative-G;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative G ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgc GATAGCGGCTGA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAgatagcggctgaAGATCGAGACCCGACGC chr3:184462946-Alternative-G;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Reference T ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACTTCCGGACGT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAacttccggacgtAGATCGAGACCCGACGC chr3:184462946-Reference-T;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative G ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACTGAGTGGTAA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaGcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAactgagtggtaaAGATCGAGACCCGACGC chr3:184462946-Alternative-G;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Reference T ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACCAACTTGAGT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAaccaacttgagtAGATCGAGACCCGACGC chr3:184462946-Reference-T;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Variant C ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgc GCCGTGGTTAAG CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAgccgtggttaagAGATCGAGACCCGACGC chr3:184462946-Variant-C;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Variant C ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgc CGATTCCACGAT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAcgattccacgatAGATCGAGACCCGACGC chr3:184462946-Variant-C;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Variant C ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgc CGAGACATGTGG CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAcgagacatgtggAGATCGAGACCCGACGC chr3:184462946-Variant-C;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Variant C ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgc GTAAGCAGCAAG CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAgtaagcagcaagAGATCGAGACCCGACGC chr3:184462946-Variant-C;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Variant C ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ATCTGCAATGCT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaCcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAatctgcaatgctAGATCGAGACCCGACGC chr3:184462946-Variant-C;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative A ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgc AGCGTGGACCTT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAagcgtggaccttAGATCGAGACCCGACGC chr3:184462946-Alternative-A;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative A ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACCGACTGAACG CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAaccgactgaacgAGATCGAGACCCGACGC chr3:184462946-Alternative-A;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Reference T ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgc CAATACATGCGT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAcaatacatgcgtAGATCGAGACCCGACGC chr3:184462946-Reference-T;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Reference T ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACACCATAATCG CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAacaccataatcgAGATCGAGACCCGACGC chr3:184462946-Reference-T;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Reference T ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgc ACCTATCACCTT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaTcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAacctatcaccttAGATCGAGACCCGACGC chr3:184462946-Reference-T;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative A ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgc CGTGTTATTCAC CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAcgtgttattcacAGATCGAGACCCGACGC chr3:184462946-Alternative-A;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative A ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgc AGTACTAAGGCA CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAagtactaaggcaAGATCGAGACCCGACGC chr3:184462946-Alternative-A;Patient-30 chr3:184462946-TC Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MAGEF1 33109 Alternative A ggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgc GTGCTCCGACTT CGACGCGGTCTCTCTCTggaatgaaacacggcacatcaggtgtggtcctgcaatgctgagtgcaggaAcatcacctcccttatctcccttgttcatattctacatttccaatgatgcAGAGGGAGACGGACGTCTCAATAAgtgctccgacttAGATCGAGACCCGACGC chr3:184462946-Alternative-A;Patient-30 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative G actgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GCGCACACGTAT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgcgcacacgtatAGATCGAGACCCGACGC chr3:18447869-Alternative-G;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative G actgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa ATTCCAAGCGAG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAattccaagcgagAGATCGAGACCCGACGC chr3:18447869-Alternative-G;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative G actgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa AGGCGCTAGTCA CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAaggcgctagtcaAGATCGAGACCCGACGC chr3:18447869-Alternative-G;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Reference T actgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa AAGCGGTCATAA CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAaagcggtcataaAGATCGAGACCCGACGC chr3:18447869-Reference-T;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative C actgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GATATGACATGG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgatatgacatggAGATCGAGACCCGACGC chr3:18447869-Alternative-C;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Reference T actgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa CGGTATGAGTGG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAcggtatgagtggAGATCGAGACCCGACGC chr3:18447869-Reference-T;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Reference T actgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa AACGAAGTTCGA CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAaacgaagttcgaAGATCGAGACCCGACGC chr3:18447869-Reference-T;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative G actgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa ACAGCATCGGTT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAacagcatcggttAGATCGAGACCCGACGC chr3:18447869-Alternative-G;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Reference T actgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GATGGAGACAAC CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgatggagacaacAGATCGAGACCCGACGC chr3:18447869-Reference-T;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative G actgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa CATCGTATGGAT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaGctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAcatcgtatggatAGATCGAGACCCGACGC chr3:18447869-Alternative-G;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Reference T actgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa CGCGTATGGCTT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaTctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAcgcgtatggcttAGATCGAGACCCGACGC chr3:18447869-Reference-T;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Variant A actgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GTAGGTTCCGTC CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgtaggttccgtcAGATCGAGACCCGACGC chr3:18447869-Variant-A;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Variant A actgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GAGCAGTGTACG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgagcagtgtacgAGATCGAGACCCGACGC chr3:18447869-Variant-A;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative C actgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa ACTCTAATCGTC CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAactctaatcgtcAGATCGAGACCCGACGC chr3:18447869-Alternative-C;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative C actgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa ACGAGCATGACG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAacgagcatgacgAGATCGAGACCCGACGC chr3:18447869-Alternative-C;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Variant A actgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GACATACCGTAC CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgacataccgtacAGATCGAGACCCGACGC chr3:18447869-Variant-A;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Variant A actgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GTACGGCTAATT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgtacggctaattAGATCGAGACCCGACGC chr3:18447869-Variant-A;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Variant A actgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataa ACCGAAGGCAAG CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaActgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAaccgaaggcaagAGATCGAGACCCGACGC chr3:18447869-Variant-A;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative C actgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa GTCGTGCATTCA CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAgtcgtgcattcaAGATCGAGACCCGACGC chr3:18447869-Alternative-C;Patient-66 chr3:18447869-TA DeNovo Patient-66 intronic SATB1 NA 4.95e-05 -0.21 0.65 -2.59 SATB1 32395 Alternative C actgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataa CGTTCTTCCATT CGACGCGGTCTCTCTCTactgttaacatttccgtattggcaacatcagtatctttgtctataaattaCctgttattgaaaatttcctattttactcttgaatatgagaagaaaataaAGAGGGAGACGGACGTCTCAATAAcgttcttccattAGATCGAGACCCGACGC chr3:18447869-Alternative-C;Patient-66 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative C tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat AGTGGCTTACTA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAagtggcttactaAGATCGAGACCCGACGC chr3:184929374-Alternative-C;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative T tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat ACGAATACGTCC CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAacgaatacgtccAGATCGAGACCCGACGC chr3:184929374-Alternative-T;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative T tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CATTCGTGTACT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAcattcgtgtactAGATCGAGACCCGACGC chr3:184929374-Alternative-T;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative T tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GGAAGTTGAGAA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAggaagttgagaaAGATCGAGACCCGACGC chr3:184929374-Alternative-T;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative C tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CTAGCTACGCGT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAActagctacgcgtAGATCGAGACCCGACGC chr3:184929374-Alternative-C;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Reference A tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CTGCTGCCTAGT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAActgctgcctagtAGATCGAGACCCGACGC chr3:184929374-Reference-A;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative C tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat AGCCGGTCTGAA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAagccggtctgaaAGATCGAGACCCGACGC chr3:184929374-Alternative-C;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Reference A tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GCCGCGTCAATT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAgccgcgtcaattAGATCGAGACCCGACGC chr3:184929374-Reference-A;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Reference A tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat ACACGCCTAGTC CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAacacgcctagtcAGATCGAGACCCGACGC chr3:184929374-Reference-A;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative C tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GATAGTCGACTT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAgatagtcgacttAGATCGAGACCCGACGC chr3:184929374-Alternative-C;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Reference A tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat ATACAACGGCTA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAatacaacggctaAGATCGAGACCCGACGC chr3:184929374-Reference-A;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative T tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GGCCGGTATAAC CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAggccggtataacAGATCGAGACCCGACGC chr3:184929374-Alternative-T;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative T tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat AGCAGTCATTCA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatTaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAagcagtcattcaAGATCGAGACCCGACGC chr3:184929374-Alternative-T;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Reference A tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GATGTCGGAACG CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatAaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAgatgtcggaacgAGATCGAGACCCGACGC chr3:184929374-Reference-A;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Alternative C tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CGGAAGTAATGA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatCaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAcggaagtaatgaAGATCGAGACCCGACGC chr3:184929374-Alternative-C;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Variant G tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CAAGCCGTACCT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAcaagccgtacctAGATCGAGACCCGACGC chr3:184929374-Variant-G;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Variant G tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GGATAGTCTATC CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAggatagtctatcAGATCGAGACCCGACGC chr3:184929374-Variant-G;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Variant G tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat GGACAGTTACTT CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAggacagttacttAGATCGAGACCCGACGC chr3:184929374-Variant-G;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Variant G tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat ATACGGACTAAG CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAatacggactaagAGATCGAGACCCGACGC chr3:184929374-Variant-G;Patient-25 chr3:184929374-AG Inherited Patient-25 intronic EHHADH NA 4.95e-05 0.94 12.89 -2.15 EHHADH 42511 Variant G tgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaat CAGCAATCAAGA CGACGCGGTCTCTCTCTtgaacacagacatcaaggaatctgtctctctctctctctctaaccctgatGaacagaaagctgtgtccatcataaaagctttgcaaaggacagacagaatAGAGGGAGACGGACGTCTCAATAAcagcaatcaagaAGATCGAGACCCGACGC chr3:184929374-Variant-G;Patient-25 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative C ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ACTAGGCTGTTA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAactaggctgttaAGATCGAGACCCGACGC chr3:184985649-Alternative-C;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative C ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ACCGATGCAACT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAaccgatgcaactAGATCGAGACCCGACGC chr3:184985649-Alternative-C;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Reference G ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ATCTTACCACGT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAatcttaccacgtAGATCGAGACCCGACGC chr3:184985649-Reference-G;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Reference G ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ATAGCGACTGCG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAatagcgactgcgAGATCGAGACCCGACGC chr3:184985649-Reference-G;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Reference G ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GATAAGTAGCCA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgataagtagccaAGATCGAGACCCGACGC chr3:184985649-Reference-G;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Reference G ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ACTCAATGTGGT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAactcaatgtggtAGATCGAGACCCGACGC chr3:184985649-Reference-G;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative C ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ACTAGTTCCACT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAactagttccactAGATCGAGACCCGACGC chr3:184985649-Alternative-C;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Variant A ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GAGAGTATTCGA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgagagtattcgaAGATCGAGACCCGACGC chr3:184985649-Variant-A;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Variant A ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ACACAACGTCGG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAacacaacgtcggAGATCGAGACCCGACGC chr3:184985649-Variant-A;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Variant A ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ATCGGTGTCTAA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAatcggtgtctaaAGATCGAGACCCGACGC chr3:184985649-Variant-A;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Variant A ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctgg ATACTAACTCGG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAatactaactcggAGATCGAGACCCGACGC chr3:184985649-Variant-A;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Variant A ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GCGTCGAGTGAA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgAgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgcgtcgagtgaaAGATCGAGACCCGACGC chr3:184985649-Variant-A;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative T ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GTCATGGATAAG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgtcatggataagAGATCGAGACCCGACGC chr3:184985649-Alternative-T;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative T ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GATAGCTTGGAA CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgatagcttggaaAGATCGAGACCCGACGC chr3:184985649-Alternative-T;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative T ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctgg AGTTCCATTAGG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAagttccattaggAGATCGAGACCCGACGC chr3:184985649-Alternative-T;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative T ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctgg CTCTTGGTTAGT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAActcttggttagtAGATCGAGACCCGACGC chr3:184985649-Alternative-T;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative T ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctgg CGTCACTTGCGT CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgTgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAcgtcacttgcgtAGATCGAGACCCGACGC chr3:184985649-Alternative-T;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Reference G ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GACAATTAGCGG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgGgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgacaattagcggAGATCGAGACCCGACGC chr3:184985649-Reference-G;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative C ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GTCAGTGTAGCG CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgtcagtgtagcgAGATCGAGACCCGACGC chr3:184985649-Alternative-C;Patient-30 chr3:184985649-GA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA EHHADH 13762 Alternative C ctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctgg GAGTAGATCGGC CGACGCGGTCTCTCTCTctatgtggtcacccgttcaatcagcctataaataacttgtgtttcgtttgCgatcataaaacacatggttaccaggatattgataatgtttggtttctggAGAGGGAGACGGACGTCTCAATAAgagtagatcggcAGATCGAGACCCGACGC chr3:184985649-Alternative-C;Patient-30 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative T cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaact ATTGCGGTTCGG CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAattgcggttcggAGATCGAGACCCGACGC chr3:186159487-Alternative-T;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative T cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaact CGCCTTCGTTGT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcgccttcgttgtAGATCGAGACCCGACGC chr3:186159487-Alternative-T;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Variant G cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaact GTTAACTTGACG CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAgttaacttgacgAGATCGAGACCCGACGC chr3:186159487-Variant-G;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative A cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaact GGTAACGTCGTC CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAggtaacgtcgtcAGATCGAGACCCGACGC chr3:186159487-Alternative-A;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative T cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaact ACCGAACGAATT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAaccgaacgaattAGATCGAGACCCGACGC chr3:186159487-Alternative-T;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative T cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaact GGATATCGCAAT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAggatatcgcaatAGATCGAGACCCGACGC chr3:186159487-Alternative-T;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative A cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaact ATCGGCTTACTA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAatcggcttactaAGATCGAGACCCGACGC chr3:186159487-Alternative-A;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative T cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaact CAAGAGTAGTGT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatTatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcaagagtagtgtAGATCGAGACCCGACGC chr3:186159487-Alternative-T;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative A cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaact ACTCGCCTAAGG CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAactcgcctaaggAGATCGAGACCCGACGC chr3:186159487-Alternative-A;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative A cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaact CTAGTCTACGGC CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAActagtctacggcAGATCGAGACCCGACGC chr3:186159487-Alternative-A;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Variant G cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaact CGATTGACGTCA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcgattgacgtcaAGATCGAGACCCGACGC chr3:186159487-Variant-G;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Reference C cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaact ACATCTAACGAC CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAacatctaacgacAGATCGAGACCCGACGC chr3:186159487-Reference-C;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Variant G cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaact CACGGTTAACGT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcacggttaacgtAGATCGAGACCCGACGC chr3:186159487-Variant-G;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Alternative A cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaact GGTATGTGGATT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatAatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAggtatgtggattAGATCGAGACCCGACGC chr3:186159487-Alternative-A;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Reference C cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaact GGACGACTTACA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAggacgacttacaAGATCGAGACCCGACGC chr3:186159487-Reference-C;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Reference C cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaact CGCTCGATAGCA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcgctcgatagcaAGATCGAGACCCGACGC chr3:186159487-Reference-C;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Reference C cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaact CGATGTAGTACG CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcgatgtagtacgAGATCGAGACCCGACGC chr3:186159487-Reference-C;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Reference C cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaact GTTCTGAACGTT CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatCatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAgttctgaacgttAGATCGAGACCCGACGC chr3:186159487-Reference-C;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Variant G cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaact CGGTAGATCGAA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAcggtagatcgaaAGATCGAGACCCGACGC chr3:186159487-Variant-G;Patient-54 chr3:186159487-CG Inherited Patient-54 intergenic 3.3e-05 0.000513 -0.33 0.29 -1.44 DGKG 79463 Variant G cgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaact GTGACGTCGGAA CGACGCGGTCTCTCTCTcgcattttaaatttagtaacacttaacacagagaatgctgtatataaaatGatatatatatatatacatacaaaatcatggtccactgcagccttgaactAGAGGGAGACGGACGTCTCAATAAgtgacgtcggaaAGATCGAGACCCGACGC chr3:186159487-Variant-G;Patient-54 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Variant T tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GATGCCTAGCAA CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgatgcctagcaaAGATCGAGACCCGACGC chr3:186547501-Variant-T;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative A tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GATTCGTAGTAC CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgattcgtagtacAGATCGAGACCCGACGC chr3:186547501-Alternative-A;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative A tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg ACATAGCCTACC CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAacatagcctaccAGATCGAGACCCGACGC chr3:186547501-Alternative-A;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative A tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg ACGCTTGTAGTT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAacgcttgtagttAGATCGAGACCCGACGC chr3:186547501-Alternative-A;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative A tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AAGACGAGCTAA CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAaagacgagctaaAGATCGAGACCCGACGC chr3:186547501-Alternative-A;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Reference C tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AGATGATCCGAT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAagatgatccgatAGATCGAGACCCGACGC chr3:186547501-Reference-C;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative G tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GTAGTACACGCG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgtagtacacgcgAGATCGAGACCCGACGC chr3:186547501-Alternative-G;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Variant T tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GTATACATGCGT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgtatacatgcgtAGATCGAGACCCGACGC chr3:186547501-Variant-T;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Reference C tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AACACAGAACGG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAaacacagaacggAGATCGAGACCCGACGC chr3:186547501-Reference-C;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Variant T tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GTACACGTTCGG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgtacacgttcggAGATCGAGACCCGACGC chr3:186547501-Variant-T;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative A tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AAGTTACGCACG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcAttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAaagttacgcacgAGATCGAGACCCGACGC chr3:186547501-Alternative-A;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Variant T tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AGCAGACTTGAA CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAagcagacttgaaAGATCGAGACCCGACGC chr3:186547501-Variant-T;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Variant T tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg CGTCAATTCAAG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcTttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAcgtcaattcaagAGATCGAGACCCGACGC chr3:186547501-Variant-T;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Reference C tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg AGTTGGTCAAGA CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAagttggtcaagaAGATCGAGACCCGACGC chr3:186547501-Reference-C;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative G tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg ACGAGCTCCGAT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAacgagctccgatAGATCGAGACCCGACGC chr3:186547501-Alternative-G;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative G tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg CGCATTGTGACT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAcgcattgtgactAGATCGAGACCCGACGC chr3:186547501-Alternative-G;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative G tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg CTCTCTTAGGCG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAActctcttaggcgAGATCGAGACCCGACGC chr3:186547501-Alternative-G;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Alternative G tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg CAAGAGGTTCGG CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcGttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAcaagaggttcggAGATCGAGACCCGACGC chr3:186547501-Alternative-G;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Reference C tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg CATTAGCCGTGA CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAcattagccgtgaAGATCGAGACCCGACGC chr3:186547501-Reference-C;Patient-92 chr3:186547501-CT Inherited Patient-92 intergenic 6.4e-05 0.000513 -0.01 2.46 -1.25 ADIPOQ 12961 Reference C tcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatg GTAATCTAGCGT CGACGCGGTCTCTCTCTtcctcccaaatcaataatctgtaatcttaggttcttctacctgtattatcCttcagcccacatttttccatttgaccatcagaaagtttacatatgtatgAGAGGGAGACGGACGTCTCAATAAgtaatctagcgtAGATCGAGACCCGACGC chr3:186547501-Reference-C;Patient-92 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Reference C agtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgca CTCGGACTTAGG CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAActcggacttaggAGATCGAGACCCGACGC chr3:187370507-Reference-C;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative A agtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgca AGATGCGCAACC CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAagatgcgcaaccAGATCGAGACCCGACGC chr3:187370507-Alternative-A;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Reference C agtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgca ACCTTGCTATAC CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAaccttgctatacAGATCGAGACCCGACGC chr3:187370507-Reference-C;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Reference C agtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GTCGAATAACAG CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAgtcgaataacagAGATCGAGACCCGACGC chr3:187370507-Reference-C;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Reference C agtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgca AAGACGCGCTGT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAaagacgcgctgtAGATCGAGACCCGACGC chr3:187370507-Reference-C;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative A agtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GGCGGTTATGAG CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAggcggttatgagAGATCGAGACCCGACGC chr3:187370507-Alternative-A;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Reference C agtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GACGTAGCTCGT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctCatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAgacgtagctcgtAGATCGAGACCCGACGC chr3:187370507-Reference-C;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative A agtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GGACGCTGTGTT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAggacgctgtgttAGATCGAGACCCGACGC chr3:187370507-Alternative-A;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative G agtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgca AACTCCGTGGAC CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAaactccgtggacAGATCGAGACCCGACGC chr3:187370507-Alternative-G;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Variant T agtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgca ACCACAACGCCT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAaccacaacgcctAGATCGAGACCCGACGC chr3:187370507-Variant-T;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative G agtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgca AGGAACGATCTA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAaggaacgatctaAGATCGAGACCCGACGC chr3:187370507-Alternative-G;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Variant T agtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgca CTTAACGGCTAA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAActtaacggctaaAGATCGAGACCCGACGC chr3:187370507-Variant-T;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Variant T agtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgca ACAGCGTTAGCT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAacagcgttagctAGATCGAGACCCGACGC chr3:187370507-Variant-T;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative A agtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgca ACTACGTATCCT CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAactacgtatcctAGATCGAGACCCGACGC chr3:187370507-Alternative-A;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative G agtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgca CTCGTGCACAAG CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAActcgtgcacaagAGATCGAGACCCGACGC chr3:187370507-Alternative-G;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Variant T agtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgca CGTATCATGTGA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAcgtatcatgtgaAGATCGAGACCCGACGC chr3:187370507-Variant-T;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative A agtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GTTGTGGTTCAA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctAatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAgttgtggttcaaAGATCGAGACCCGACGC chr3:187370507-Alternative-A;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative G agtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgca AGTCGGCTGTCA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAagtcggctgtcaAGATCGAGACCCGACGC chr3:187370507-Alternative-G;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Variant T agtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgca GTAGCCTTACCA CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctTatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAgtagccttaccaAGATCGAGACCCGACGC chr3:187370507-Variant-T;Patient-75 chr3:187370507-CT DeNovo Patient-75 intergenic NA 0.000513 -0.15 1.02 -0.6 BCL6 93005 Alternative G agtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgca ATATTCGCCGGC CGACGCGGTCTCTCTCTagtctctttacctgccaccaaatgattctaagccactcatcaacacatctGatacttagtcgttttccctctcattttcctctgactgaatcatcctgcaAGAGGGAGACGGACGTCTCAATAAatattcgccggcAGATCGAGACCCGACGC chr3:187370507-Alternative-G;Patient-75 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative G tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactga CAGGCTAGTTAT CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAcaggctagttatAGATCGAGACCCGACGC chr3:187504787-Alternative-G;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Variant T tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactga CTAACAGCACCA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAActaacagcaccaAGATCGAGACCCGACGC chr3:187504787-Variant-T;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative G tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactga GGCGTATGCCAA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAggcgtatgccaaAGATCGAGACCCGACGC chr3:187504787-Alternative-G;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative G tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactga GCAATCGCACGA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgcaatcgcacgaAGATCGAGACCCGACGC chr3:187504787-Alternative-G;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative G tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactga AGACGAGTATGT CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAagacgagtatgtAGATCGAGACCCGACGC chr3:187504787-Alternative-G;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative G tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactga GTCATGTTCCAT CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaGgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgtcatgttccatAGATCGAGACCCGACGC chr3:187504787-Alternative-G;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Variant T tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactga GCGAGAAGATAA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgcgagaagataaAGATCGAGACCCGACGC chr3:187504787-Variant-T;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Variant T tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactga AACACAGCGTCC CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAaacacagcgtccAGATCGAGACCCGACGC chr3:187504787-Variant-T;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Variant T tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactga GCGACTTAATCA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgcgacttaatcaAGATCGAGACCCGACGC chr3:187504787-Variant-T;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Reference C tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactga AACCGTGAGCGA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAaaccgtgagcgaAGATCGAGACCCGACGC chr3:187504787-Reference-C;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Reference C tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactga GTTAATCGTCGA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgttaatcgtcgaAGATCGAGACCCGACGC chr3:187504787-Reference-C;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative A tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactga AGTATACCTGCA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAagtatacctgcaAGATCGAGACCCGACGC chr3:187504787-Alternative-A;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Reference C tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactga GATAAGATGGCG CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgataagatggcgAGATCGAGACCCGACGC chr3:187504787-Reference-C;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Variant T tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactga AGCCGGATAATT CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaTgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAagccggataattAGATCGAGACCCGACGC chr3:187504787-Variant-T;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Reference C tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactga ACGTCGCTATAA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAacgtcgctataaAGATCGAGACCCGACGC chr3:187504787-Reference-C;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Reference C tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactga GACGTAAGCCGA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaCgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAgacgtaagccgaAGATCGAGACCCGACGC chr3:187504787-Reference-C;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative A tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactga CGGTGAACTACG CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAcggtgaactacgAGATCGAGACCCGACGC chr3:187504787-Alternative-A;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative A tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactga CTAGGTAGTAGA CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAActaggtagtagaAGATCGAGACCCGACGC chr3:187504787-Alternative-A;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative A tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactga CAACCTGACAAG CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAAcaacctgacaagAGATCGAGACCCGACGC chr3:187504787-Alternative-A;Patient-101 chr3:187504787-CT DeNovo Patient-101 intergenic NA 0.000513 -0.08 1.56 0.01 BCL6 41273 Alternative A tatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactga CTGAGTCGATAT CGACGCGGTCTCTCTCTtatttccttcacaaaaaagatttacattttcaaatcttggaatttccaaaAgtgactttattcctattactttatattttctcatgcatttatttactgaAGAGGGAGACGGACGTCTCAATAActgagtcgatatAGATCGAGACCCGACGC chr3:187504787-Alternative-A;Patient-101 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative C tgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatata CACACGTAGAGT CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcacacgtagagtAGATCGAGACCCGACGC chr3:190127225-Alternative-C;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative C tgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatata AGATCAGGTCGC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAagatcaggtcgcAGATCGAGACCCGACGC chr3:190127225-Alternative-C;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative C tgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatata ACCGGCCTTAAC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAaccggccttaacAGATCGAGACCCGACGC chr3:190127225-Alternative-C;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Variant G tgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatata ACACCGTAGTTA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAacaccgtagttaAGATCGAGACCCGACGC chr3:190127225-Variant-G;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative T tgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatata AATGGCACAACA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAaatggcacaacaAGATCGAGACCCGACGC chr3:190127225-Alternative-T;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative C tgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatata ATTCGGTGGTAT CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAattcggtggtatAGATCGAGACCCGACGC chr3:190127225-Alternative-C;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative T tgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatata AATAGGTCTTCG CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAaataggtcttcgAGATCGAGACCCGACGC chr3:190127225-Alternative-T;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative T tgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatata CACATTAGTGCA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcacattagtgcaAGATCGAGACCCGACGC chr3:190127225-Alternative-T;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Reference A tgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatata CGCCAAGTTCTA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcgccaagttctaAGATCGAGACCCGACGC chr3:190127225-Reference-A;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Reference A tgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatata CATCGCGTATAA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcatcgcgtataaAGATCGAGACCCGACGC chr3:190127225-Reference-A;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Reference A tgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatata ATAGAGGATCGA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAatagaggatcgaAGATCGAGACCCGACGC chr3:190127225-Reference-A;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative T tgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatata GTACTTGGATAC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAgtacttggatacAGATCGAGACCCGACGC chr3:190127225-Alternative-T;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Reference A tgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatata GAATCGGACGAC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAgaatcggacgacAGATCGAGACCCGACGC chr3:190127225-Reference-A;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative T tgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatata ACAGCTAACGAA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactTttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAacagctaacgaaAGATCGAGACCCGACGC chr3:190127225-Alternative-T;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Variant G tgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatata GTCCGACATAAG CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAgtccgacataagAGATCGAGACCCGACGC chr3:190127225-Variant-G;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Reference A tgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatata GAGTACAGTAAC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactAttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAgagtacagtaacAGATCGAGACCCGACGC chr3:190127225-Reference-A;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Variant G tgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatata CACAGGTCAAGA CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcacaggtcaagaAGATCGAGACCCGACGC chr3:190127225-Variant-G;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Alternative C tgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatata CGATTGCCGGAT CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactCttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcgattgccggatAGATCGAGACCCGACGC chr3:190127225-Alternative-C;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Variant G tgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatata CAATGGATATCG CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAcaatggatatcgAGATCGAGACCCGACGC chr3:190127225-Variant-G;Patient-44 chr3:190127225-AG Inherited Patient-44 intronic CLDN16 0.000708 4.95e-05 0.11 4.37 0.25 CLDN16 21563 Variant G tgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatata GTAATCGCTAAC CGACGCGGTCTCTCTCTtgtatgcatatatgtagatatacatataattgtaatacattaaaataactGttatacatttgaatattggacatggttgtagttgtgaattttctatataAGAGGGAGACGGACGTCTCAATAAgtaatcgctaacAGATCGAGACCCGACGC chr3:190127225-Variant-G;Patient-44 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Variant A tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg AACAACTGGCCG CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAaacaactggccgAGATCGAGACCCGACGC chr3:19174750-Variant-A;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Variant A tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg AGTTACGTGCCG CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAagttacgtgccgAGATCGAGACCCGACGC chr3:19174750-Variant-A;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Variant A tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CGCGGTTCCATA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAcgcggttccataAGATCGAGACCCGACGC chr3:19174750-Variant-A;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative T tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CGAGATAGTACC CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAcgagatagtaccAGATCGAGACCCGACGC chr3:19174750-Alternative-T;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative G tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CACACGTTAGCT CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAcacacgttagctAGATCGAGACCCGACGC chr3:19174750-Alternative-G;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Reference C tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg ATCGAGCGATAA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAatcgagcgataaAGATCGAGACCCGACGC chr3:19174750-Reference-C;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative G tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GACGGCAGGTTA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAgacggcaggttaAGATCGAGACCCGACGC chr3:19174750-Alternative-G;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative T tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg ACGCGACATCAG CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAacgcgacatcagAGATCGAGACCCGACGC chr3:19174750-Alternative-T;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Reference C tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CTGCGTATGACG CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAActgcgtatgacgAGATCGAGACCCGACGC chr3:19174750-Reference-C;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative T tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GTTCAACCGATA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAgttcaaccgataAGATCGAGACCCGACGC chr3:19174750-Alternative-T;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative T tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GAGTAGTCGTCC CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAgagtagtcgtccAGATCGAGACCCGACGC chr3:19174750-Alternative-T;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative T tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GGTAGCCGATAC CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattTttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAggtagccgatacAGATCGAGACCCGACGC chr3:19174750-Alternative-T;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Variant A tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CAGTCGAATCAT CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAcagtcgaatcatAGATCGAGACCCGACGC chr3:19174750-Variant-A;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative G tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GATGGTTGCCAT CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAgatggttgccatAGATCGAGACCCGACGC chr3:19174750-Alternative-G;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Reference C tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg CGTCGGACTCTA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAcgtcggactctaAGATCGAGACCCGACGC chr3:19174750-Reference-C;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative G tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg ACAACGAGAATC CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAacaacgagaatcAGATCGAGACCCGACGC chr3:19174750-Alternative-G;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Variant A tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg ATCCGGAATAAG CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattAttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAatccggaataagAGATCGAGACCCGACGC chr3:19174750-Variant-A;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Reference C tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg ATCGTAGACCAT CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAatcgtagaccatAGATCGAGACCCGACGC chr3:19174750-Reference-C;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Alternative G tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg GTAAGGACCATA CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattGttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAgtaaggaccataAGATCGAGACCCGACGC chr3:19174750-Alternative-G;Patient-82 chr3:19174750-CA DeNovo Patient-82 intergenic 3.2e-05 0.001025641 -0.07 1.71 -2.33 KCNH8 15266 Reference C tcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctg AAGATACCGGAT CGACGCGGTCTCTCTCTtcagctgaaagaaagaaaggactagtgaaaagttaactattaattatattCttttaaaatgtatcattattttggaaaataatatctctaaaaatctctgAGAGGGAGACGGACGTCTCAATAAaagataccggatAGATCGAGACCCGACGC chr3:19174750-Reference-C;Patient-82 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Reference T ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGAGTTAGGAAC CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagagttaggaacAGATCGAGACCCGACGC chr3:193854011-Reference-T;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative G ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc GAATGTGGACAT CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAgaatgtggacatAGATCGAGACCCGACGC chr3:193854011-Alternative-G;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative A ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGCGTTAACGCG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagcgttaacgcgAGATCGAGACCCGACGC chr3:193854011-Alternative-A;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative G ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc ACGCGTCATATA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAacgcgtcatataAGATCGAGACCCGACGC chr3:193854011-Alternative-G;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative A ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc CGAGCAAGCGAT CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAcgagcaagcgatAGATCGAGACCCGACGC chr3:193854011-Alternative-A;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative G ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc CGTGATCCGCAT CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAcgtgatccgcatAGATCGAGACCCGACGC chr3:193854011-Alternative-G;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative G ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGAAGTTGTGCA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagaagttgtgcaAGATCGAGACCCGACGC chr3:193854011-Alternative-G;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative A ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGTACGTACGTC CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagtacgtacgtcAGATCGAGACCCGACGC chr3:193854011-Alternative-A;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative A ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc ACTAATGTTCGC CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAactaatgttcgcAGATCGAGACCCGACGC chr3:193854011-Alternative-A;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative A ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc GCGTGAATAGTT CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcAactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAgcgtgaatagttAGATCGAGACCCGACGC chr3:193854011-Alternative-A;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Reference T ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGAATGACGAAG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagaatgacgaagAGATCGAGACCCGACGC chr3:193854011-Reference-T;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Reference T ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc CTCAAGCATCAA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAActcaagcatcaaAGATCGAGACCCGACGC chr3:193854011-Reference-T;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Reference T ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc ATTACCTGGTCG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAattacctggtcgAGATCGAGACCCGACGC chr3:193854011-Reference-T;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Variant C ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc CGGTATCAGTAA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAcggtatcagtaaAGATCGAGACCCGACGC chr3:193854011-Variant-C;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Reference T ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc GCGTGCACTCTA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcTactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAgcgtgcactctaAGATCGAGACCCGACGC chr3:193854011-Reference-T;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Alternative G ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc CATCGTACTCGG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcGactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAcatcgtactcggAGATCGAGACCCGACGC chr3:193854011-Alternative-G;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Variant C ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AACAACATGACG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAaacaacatgacgAGATCGAGACCCGACGC chr3:193854011-Variant-C;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Variant C ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc ACTAAGTGCGAG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAactaagtgcgagAGATCGAGACCCGACGC chr3:193854011-Variant-C;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Variant C ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc AGACCTAACCTA CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAagacctaacctaAGATCGAGACCCGACGC chr3:193854011-Variant-C;Patient-68 chr3:193854011-TC DeNovo Patient-68 5 prime UTR HES1 0.000638 0.000891 2.14 20.7 4.91 HES1 79 Variant C ataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctc GGACACAGATCG CGACGCGGTCTCTCTCTataacagcggaatcccccgtctacctctctccttggtcctggaacagcgcCactgatcaccaagtagccacaaaatataataaaccctcagcacttgctcAGAGGGAGACGGACGTCTCAATAAggacacagatcgAGATCGAGACCCGACGC chr3:193854011-Variant-C;Patient-68 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Variant C gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat ATAGGTGAGCGA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAataggtgagcgaAGATCGAGACCCGACGC chr3:193860994-Variant-C;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Variant C gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat CTGCGGTAACGT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAActgcggtaacgtAGATCGAGACCCGACGC chr3:193860994-Variant-C;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Variant C gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat AGGCTGACATAA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAaggctgacataaAGATCGAGACCCGACGC chr3:193860994-Variant-C;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Variant C gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GTGTACTCTGAA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAgtgtactctgaaAGATCGAGACCCGACGC chr3:193860994-Variant-C;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Reference A gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat ACAACGCGACAT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAacaacgcgacatAGATCGAGACCCGACGC chr3:193860994-Reference-A;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Reference A gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GGCCGTAATGCA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAggccgtaatgcaAGATCGAGACCCGACGC chr3:193860994-Reference-A;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Variant C gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat AGCATACGTAGA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaCaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAagcatacgtagaAGATCGAGACCCGACGC chr3:193860994-Variant-C;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Reference A gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GGTGTCTATTCT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAggtgtctattctAGATCGAGACCCGACGC chr3:193860994-Reference-A;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Reference A gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GACAAGCGAATC CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAgacaagcgaatcAGATCGAGACCCGACGC chr3:193860994-Reference-A;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Reference A gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat AAGAATGGACGC CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaAaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAaagaatggacgcAGATCGAGACCCGACGC chr3:193860994-Reference-A;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative T gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat CTGAGTATACCA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAActgagtataccaAGATCGAGACCCGACGC chr3:193860994-Alternative-T;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative T gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat CATAGCTGACGT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAcatagctgacgtAGATCGAGACCCGACGC chr3:193860994-Alternative-T;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative G gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat CGTAGACTGGCA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAcgtagactggcaAGATCGAGACCCGACGC chr3:193860994-Alternative-G;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative G gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat ATCTTATCGTCG CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAatcttatcgtcgAGATCGAGACCCGACGC chr3:193860994-Alternative-G;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative T gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GGCTATCTAGCG CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAggctatctagcgAGATCGAGACCCGACGC chr3:193860994-Alternative-T;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative T gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat CGTGTCTCGTGT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAcgtgtctcgtgtAGATCGAGACCCGACGC chr3:193860994-Alternative-T;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative G gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GATATTGGATGG CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAgatattggatggAGATCGAGACCCGACGC chr3:193860994-Alternative-G;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative T gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat ACGCGGAGTTCA CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaTaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAacgcggagttcaAGATCGAGACCCGACGC chr3:193860994-Alternative-T;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative G gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat GCAGCTGGTCAT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAgcagctggtcatAGATCGAGACCCGACGC chr3:193860994-Alternative-G;Patient-25 chr3:193860994-AC Inherited Patient-25 intergenic NA 0.000513 0.79 11.77 1.46 HES1 7062 Alternative G gcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccat AGGCGGTAGTCT CGACGCGGTCTCTCTCTgcactccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaGaaaaaaaaaaaaaccaagaacaacaacaaattgctgtgttaagtgccatAGAGGGAGACGGACGTCTCAATAAaggcggtagtctAGATCGAGACCCGACGC chr3:193860994-Alternative-G;Patient-25 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Variant T agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CTGGTATGGCGA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAActggtatggcgaAGATCGAGACCCGACGC chr3:195232562-Variant-T;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Reference G agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt ATCCTCGGATGG CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAatcctcggatggAGATCGAGACCCGACGC chr3:195232562-Reference-G;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Reference G agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt ACACGTTGATCG CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAacacgttgatcgAGATCGAGACCCGACGC chr3:195232562-Reference-G;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Reference G agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CGATTCGTCGCT CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAcgattcgtcgctAGATCGAGACCCGACGC chr3:195232562-Reference-G;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Variant T agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt ACAAGCATTCGT CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAacaagcattcgtAGATCGAGACCCGACGC chr3:195232562-Variant-T;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Reference G agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt AACGCCGTTACG CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAaacgccgttacgAGATCGAGACCCGACGC chr3:195232562-Reference-G;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Variant T agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GGCTACAACTAA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAggctacaactaaAGATCGAGACCCGACGC chr3:195232562-Variant-T;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative A agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GATAGGTAGCGA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgataggtagcgaAGATCGAGACCCGACGC chr3:195232562-Alternative-A;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Reference G agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GAGGTAGCAACC CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaGctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgaggtagcaaccAGATCGAGACCCGACGC chr3:195232562-Reference-G;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Variant T agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GCGATCTCATAA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgcgatctcataaAGATCGAGACCCGACGC chr3:195232562-Variant-T;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Variant T agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GTCATTCTCGCG CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaTctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgtcattctcgcgAGATCGAGACCCGACGC chr3:195232562-Variant-T;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative C agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GATGCTAGTGCG CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgatgctagtgcgAGATCGAGACCCGACGC chr3:195232562-Alternative-C;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative A agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CGGCGCTTGTTA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAcggcgcttgttaAGATCGAGACCCGACGC chr3:195232562-Alternative-A;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative C agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CGCGCATTGTGA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAcgcgcattgtgaAGATCGAGACCCGACGC chr3:195232562-Alternative-C;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative A agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CTGGTATGTATC CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAActggtatgtatcAGATCGAGACCCGACGC chr3:195232562-Alternative-A;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative A agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt AATACTAGGCCT CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAaatactaggcctAGATCGAGACCCGACGC chr3:195232562-Alternative-A;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative A agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GCGTCCATTATT CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaActcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAgcgtccattattAGATCGAGACCCGACGC chr3:195232562-Alternative-A;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative C agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt ACTACAACCTTC CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAactacaaccttcAGATCGAGACCCGACGC chr3:195232562-Alternative-C;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative C agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt CGTAGATATGCT CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAcgtagatatgctAGATCGAGACCCGACGC chr3:195232562-Alternative-C;Patient-73 chr3:195232562-GT DeNovo Patient-73 intergenic NA 0.000513 -0.18 0.81 0 PPP1R2 37661 Alternative C agatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgt GGAGTTCAATGA CGACGCGGTCTCTCTCTagatatagtgaagctcccctatatgatatcacagtgatagatatcgtgaaCctcccctgtatgataccacagtggtagatatagtgaagatcctctgtgtAGAGGGAGACGGACGTCTCAATAAggagttcaatgaAGATCGAGACCCGACGC chr3:195232562-Alternative-C;Patient-73 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative T attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GTATTCCTGCAC CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgtattcctgcacAGATCGAGACCCGACGC chr3:196069726-Alternative-T;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative T attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GTCCGGATTGCA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgtccggattgcaAGATCGAGACCCGACGC chr3:196069726-Alternative-T;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative C attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GACGCGACGATA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgacgcgacgataAGATCGAGACCCGACGC chr3:196069726-Alternative-C;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative C attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt CGGACAGATAGT CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcggacagatagtAGATCGAGACCCGACGC chr3:196069726-Alternative-C;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Reference A attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GTTCTGCGGCAA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgttctgcggcaaAGATCGAGACCCGACGC chr3:196069726-Reference-A;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Reference A attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt CAGCTCACAATA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcagctcacaataAGATCGAGACCCGACGC chr3:196069726-Reference-A;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Reference A attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt AACTTACGCGCA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAaacttacgcgcaAGATCGAGACCCGACGC chr3:196069726-Reference-A;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Reference A attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt ATAGCGGCGTGA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAatagcggcgtgaAGATCGAGACCCGACGC chr3:196069726-Reference-A;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Reference A attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GCGACCTTACCT CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccAcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgcgaccttacctAGATCGAGACCCGACGC chr3:196069726-Reference-A;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative T attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt CTACGCAGCTGA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAActacgcagctgaAGATCGAGACCCGACGC chr3:196069726-Alternative-T;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Variant G attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GTACCTTACCAC CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgtaccttaccacAGATCGAGACCCGACGC chr3:196069726-Variant-G;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative C attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt ATAAGTAGGTCG CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAataagtaggtcgAGATCGAGACCCGACGC chr3:196069726-Alternative-C;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Variant G attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GTGCTAACGTGC CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgtgctaacgtgcAGATCGAGACCCGACGC chr3:196069726-Variant-G;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative C attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt AGCGTCTGATTA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAagcgtctgattaAGATCGAGACCCGACGC chr3:196069726-Alternative-C;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative T attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt CATCGAACGCCT CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcatcgaacgcctAGATCGAGACCCGACGC chr3:196069726-Alternative-T;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative T attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt CGTGGACTATCG CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccTcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcgtggactatcgAGATCGAGACCCGACGC chr3:196069726-Alternative-T;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Variant G attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt ATCTCAACGCAT CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAatctcaacgcatAGATCGAGACCCGACGC chr3:196069726-Variant-G;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Alternative C attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GGCAAGCTAAGA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccCcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAggcaagctaagaAGATCGAGACCCGACGC chr3:196069726-Alternative-C;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Variant G attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt GGCCGAGAAGAT CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAggccgagaagatAGATCGAGACCCGACGC chr3:196069726-Variant-G;Patient-26 chr3:196069726-AG DeNovo Patient-26 intergenic 0.000651 0.00103 0.06 3.61 0.59 PCYT1A 55141 Variant G attctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgtt ACTAGCGATCAA CGACGCGGTCTCTCTCTattctcctgcctcagcctcccgagtagctgggactacagcgcccgccaccGcaaccggctaatttttgtatttttagtaaagacggggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAactagcgatcaaAGATCGAGACCCGACGC chr3:196069726-Variant-G;Patient-26 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative G caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt GGTAGACACCAT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAggtagacaccatAGATCGAGACCCGACGC chr3:196097842-Alternative-G;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative G caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt GTCGAAGATCAA CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAgtcgaagatcaaAGATCGAGACCCGACGC chr3:196097842-Alternative-G;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative G caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt ACGAGCGTAATT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAacgagcgtaattAGATCGAGACCCGACGC chr3:196097842-Alternative-G;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative T caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt AGTGTTCCGCCT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAagtgttccgcctAGATCGAGACCCGACGC chr3:196097842-Alternative-T;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative G caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt GATTGCGTCTGG CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAgattgcgtctggAGATCGAGACCCGACGC chr3:196097842-Alternative-G;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative G caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt AAGATCAGTCGA CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagGcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAaagatcagtcgaAGATCGAGACCCGACGC chr3:196097842-Alternative-G;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative T caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt ACTAAGTCCGCG CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAactaagtccgcgAGATCGAGACCCGACGC chr3:196097842-Alternative-T;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative T caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CTTGTCTTGGAT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAActtgtcttggatAGATCGAGACCCGACGC chr3:196097842-Alternative-T;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative T caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CGGTATAGGCGT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAcggtataggcgtAGATCGAGACCCGACGC chr3:196097842-Alternative-T;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Alternative T caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt GACAAGAGAGTT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagTcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAgacaagagagttAGATCGAGACCCGACGC chr3:196097842-Alternative-T;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Variant A caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt GTTCCTAATTCG CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAgttcctaattcgAGATCGAGACCCGACGC chr3:196097842-Variant-A;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Variant A caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt ACGCTATTGACT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAacgctattgactAGATCGAGACCCGACGC chr3:196097842-Variant-A;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Variant A caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CGTATGTCATGA CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAcgtatgtcatgaAGATCGAGACCCGACGC chr3:196097842-Variant-A;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Reference C caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CGTGCACAAGTC CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAcgtgcacaagtcAGATCGAGACCCGACGC chr3:196097842-Reference-C;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Variant A caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CAAGCAAGTAGT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAcaagcaagtagtAGATCGAGACCCGACGC chr3:196097842-Variant-A;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Variant A caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt CGGCTCGCATAA CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagAcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAcggctcgcataaAGATCGAGACCCGACGC chr3:196097842-Variant-A;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Reference C caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt ATCTGACGGTCG CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAatctgacggtcgAGATCGAGACCCGACGC chr3:196097842-Reference-C;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Reference C caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt ACCTTGCGCGAT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAaccttgcgcgatAGATCGAGACCCGACGC chr3:196097842-Reference-C;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Reference C caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt AGTAGCGCTCCT CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAagtagcgctcctAGATCGAGACCCGACGC chr3:196097842-Reference-C;Patient-69 chr3:196097842-CA DeNovo Patient-69 intronic UBXN7 NA 9.9e-05 -0.26 0.49 -0.61 UBXN7 61502 Reference C caagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgt AAGTCGGACCAC CGACGCGGTCTCTCTCTcaagaaactgaggtggaaggatcatttgagcccaggaggtcaaggctgagCcatgttcatgccactgcattgcagcctgggtgacagagcaaaaccctgtAGAGGGAGACGGACGTCTCAATAAaagtcggaccacAGATCGAGACCCGACGC chr3:196097842-Reference-C;Patient-69 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Reference T tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga ACATCGATCAAG CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAacatcgatcaagAGATCGAGACCCGACGC chr3:196398539-Reference-T;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Reference T tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga ATCTTGTCTGGT CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAatcttgtctggtAGATCGAGACCCGACGC chr3:196398539-Reference-T;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Variant A tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CTAAGACGAGCA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAActaagacgagcaAGATCGAGACCCGACGC chr3:196398539-Variant-A;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Variant A tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CTTAGTTGGAAC CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAActtagttggaacAGATCGAGACCCGACGC chr3:196398539-Variant-A;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Variant A tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga AAGTCGTAACGT CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAaagtcgtaacgtAGATCGAGACCCGACGC chr3:196398539-Variant-A;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Variant A tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CAAGAGATGCGA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAcaagagatgcgaAGATCGAGACCCGACGC chr3:196398539-Variant-A;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative C tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GATACCGCGTCT CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgataccgcgtctAGATCGAGACCCGACGC chr3:196398539-Alternative-C;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Variant A tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GATCGCGAGCAT CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctAccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgatcgcgagcatAGATCGAGACCCGACGC chr3:196398539-Variant-A;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative C tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga AACCGACACCTT CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAaaccgacaccttAGATCGAGACCCGACGC chr3:196398539-Alternative-C;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative C tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CGCATTCCGTGA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAcgcattccgtgaAGATCGAGACCCGACGC chr3:196398539-Alternative-C;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Reference T tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GACCATGTTCGG CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgaccatgttcggAGATCGAGACCCGACGC chr3:196398539-Reference-T;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Reference T tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga AACCGCTTGTAA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAaaccgcttgtaaAGATCGAGACCCGACGC chr3:196398539-Reference-T;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Reference T tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CGCGAGTAACAC CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctTccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAcgcgagtaacacAGATCGAGACCCGACGC chr3:196398539-Reference-T;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative C tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga ATAGGCGTGTGG CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAataggcgtgtggAGATCGAGACCCGACGC chr3:196398539-Alternative-C;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative C tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga CGATAGTTGGAA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctCccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAcgatagttggaaAGATCGAGACCCGACGC chr3:196398539-Alternative-C;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative G tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GACGATTATGAG CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgacgattatgagAGATCGAGACCCGACGC chr3:196398539-Alternative-G;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative G tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GACGGCAGATAC CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgacggcagatacAGATCGAGACCCGACGC chr3:196398539-Alternative-G;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative G tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GTTGAGTGGTCA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAgttgagtggtcaAGATCGAGACCCGACGC chr3:196398539-Alternative-G;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative G tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga AACGTTCGTAAC CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAaacgttcgtaacAGATCGAGACCCGACGC chr3:196398539-Alternative-G;Patient-27 chr3:196398539-TA DeNovo Patient-27 intergenic NA 0.000513 0.12 4.62 1.11 PIGX 40705 Alternative G tttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaagga GGCAGTACAGAA CGACGCGGTCTCTCTCTtttcaaaaagccaatatagctccattcaaattttatttggccatttgcctGccccacacccccttcttagataatgtctttgagaaatctgtgcgaaggaAGAGGGAGACGGACGTCTCAATAAggcagtacagaaAGATCGAGACCCGACGC chr3:196398539-Alternative-G;Patient-27 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative C cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc CGAATTAGTCGT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAcgaattagtcgtAGATCGAGACCCGACGC chr3:196467575-Alternative-C;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative C cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GGAACGAGCCAT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAggaacgagccatAGATCGAGACCCGACGC chr3:196467575-Alternative-C;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Reference G cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AATGCGATTACG CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaatgcgattacgAGATCGAGACCCGACGC chr3:196467575-Reference-G;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Reference G cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GGAGATATTCGA CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAggagatattcgaAGATCGAGACCCGACGC chr3:196467575-Reference-G;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Variant T cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GGTGAGCGGTTA CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAggtgagcggttaAGATCGAGACCCGACGC chr3:196467575-Variant-T;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative C cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc CAACGTGCATAT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAcaacgtgcatatAGATCGAGACCCGACGC chr3:196467575-Alternative-C;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Reference G cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc ATTATCAGACCG CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAattatcagaccgAGATCGAGACCCGACGC chr3:196467575-Reference-G;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative A cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc CGATAAGACAAC CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAcgataagacaacAGATCGAGACCCGACGC chr3:196467575-Alternative-A;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative A cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GATCATGGAGCG CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAgatcatggagcgAGATCGAGACCCGACGC chr3:196467575-Alternative-A;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Variant T cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AATATGTGCGTC CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaatatgtgcgtcAGATCGAGACCCGACGC chr3:196467575-Variant-T;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative C cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc ACGTATGCAACT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAacgtatgcaactAGATCGAGACCCGACGC chr3:196467575-Alternative-C;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Variant T cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AAGATCGCACAT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaagatcgcacatAGATCGAGACCCGACGC chr3:196467575-Variant-T;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Reference G cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AACAACGTGCGG CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaacaacgtgcggAGATCGAGACCCGACGC chr3:196467575-Reference-G;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative C cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GATTAGGATGGT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccCggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAgattaggatggtAGATCGAGACCCGACGC chr3:196467575-Alternative-C;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Reference G cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GTCATCGGAAGG CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccGggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAgtcatcggaaggAGATCGAGACCCGACGC chr3:196467575-Reference-G;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Variant T cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AACGAATACGGT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaacgaatacggtAGATCGAGACCCGACGC chr3:196467575-Variant-T;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative A cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc GCGTCGAGGTAA CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAgcgtcgaggtaaAGATCGAGACCCGACGC chr3:196467575-Alternative-A;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative A cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc CGTATGAGTCAT CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAcgtatgagtcatAGATCGAGACCCGACGC chr3:196467575-Alternative-A;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Variant T cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc AAGGCGGCATCA CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccTggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAaaggcggcatcaAGATCGAGACCCGACGC chr3:196467575-Variant-T;Patient-39 chr3:196467575-GT DeNovo Patient-39 intronic PAK2 NA 0.00016 0.24 6.44 -2.81 PAK2 846 Alternative A cctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctc ATCGGACAGCCA CGACGCGGTCTCTCTCTcctgtaacctcttttccacattccacattggtaaaaacgtagagcgtcccAggcgcttgagggccaccgcttacgaactgatctttcggagcttctcctcAGAGGGAGACGGACGTCTCAATAAatcggacagccaAGATCGAGACCCGACGC chr3:196467575-Alternative-A;Patient-39 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative A gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag CGCGCGCAATAA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAcgcgcgcaataaAGATCGAGACCCGACGC chr3:196971169-Alternative-A;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative G gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GTGTAGTTCTGA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgtgtagttctgaAGATCGAGACCCGACGC chr3:196971169-Alternative-G;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Variant T gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AACGGTAGAGCA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAaacggtagagcaAGATCGAGACCCGACGC chr3:196971169-Variant-T;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Variant T gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AGATACTGGCAA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAagatactggcaaAGATCGAGACCCGACGC chr3:196971169-Variant-T;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Variant T gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AAGGCGCGTAGT CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAaaggcgcgtagtAGATCGAGACCCGACGC chr3:196971169-Variant-T;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative G gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GTTGACTCTCAA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgttgactctcaaAGATCGAGACCCGACGC chr3:196971169-Alternative-G;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative G gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AAGACTACACAG CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAaagactacacagAGATCGAGACCCGACGC chr3:196971169-Alternative-G;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative A gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GTAAGAGCTCTA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgtaagagctctaAGATCGAGACCCGACGC chr3:196971169-Alternative-A;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative G gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GACTATCGACCG CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgactatcgaccgAGATCGAGACCCGACGC chr3:196971169-Alternative-G;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Variant T gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GAGATACACCTT CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgagatacaccttAGATCGAGACCCGACGC chr3:196971169-Variant-T;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative A gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GTCGGCGGATAT CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgtcggcggatatAGATCGAGACCCGACGC chr3:196971169-Alternative-A;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative A gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag CTAAGCACCATA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAActaagcaccataAGATCGAGACCCGACGC chr3:196971169-Alternative-A;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Variant T gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag CGGATTGGACAG CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaTtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAcggattggacagAGATCGAGACCCGACGC chr3:196971169-Variant-T;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative G gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AGCATGCTGTTA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaGtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAagcatgctgttaAGATCGAGACCCGACGC chr3:196971169-Alternative-G;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Alternative A gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag ACGTTCACGCGT CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaAtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAacgttcacgcgtAGATCGAGACCCGACGC chr3:196971169-Alternative-A;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Reference C gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag ACTCTAATGCGT CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAactctaatgcgtAGATCGAGACCCGACGC chr3:196971169-Reference-C;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Reference C gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag ATACCGCAGAAG CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAataccgcagaagAGATCGAGACCCGACGC chr3:196971169-Reference-C;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Reference C gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag GTCGCGTACATC CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAgtcgcgtacatcAGATCGAGACCCGACGC chr3:196971169-Reference-C;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Reference C gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag AACGCCAGAATA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAaacgccagaataAGATCGAGACCCGACGC chr3:196971169-Reference-C;Patient-104 chr3:196971169-CT DeNovo Patient-104 intronic DLG1 0.000127 0.000193181 -0.31 0.33 -0.32 DLG1 54277 Reference C gggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaag ATAACGACACGA CGACGCGGTCTCTCTCTgggagcttggcataacttattaccccaggatgtgaggtgttggaagggaaCtaccatacagttcatgcctggtagactggaggaccattcgagtggaaagAGAGGGAGACGGACGTCTCAATAAataacgacacgaAGATCGAGACCCGACGC chr3:196971169-Reference-C;Patient-104 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative C cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggttt ACGCGGTGTCTT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAacgcggtgtcttAGATCGAGACCCGACGC chr3:197041446-Alternative-C;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative C cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GAGCTCGGTGTT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAgagctcggtgttAGATCGAGACCCGACGC chr3:197041446-Alternative-C;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative C cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CAACGTATGACA CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcaacgtatgacaAGATCGAGACCCGACGC chr3:197041446-Alternative-C;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative C cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GTACACGGTCGT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAgtacacggtcgtAGATCGAGACCCGACGC chr3:197041446-Alternative-C;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative C cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CTAACTATCGGT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggCggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAActaactatcggtAGATCGAGACCCGACGC chr3:197041446-Alternative-C;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Variant G cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggttt AACGTGCGGCAA CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAaacgtgcggcaaAGATCGAGACCCGACGC chr3:197041446-Variant-G;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Variant G cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CACATTCGTATC CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcacattcgtatcAGATCGAGACCCGACGC chr3:197041446-Variant-G;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Reference A cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CGCAATCAGACG CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcgcaatcagacgAGATCGAGACCCGACGC chr3:197041446-Reference-A;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Variant G cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CGGAGCTAGAAG CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcggagctagaagAGATCGAGACCCGACGC chr3:197041446-Variant-G;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Variant G cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggttt ATCAAGCGCGCT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAatcaagcgcgctAGATCGAGACCCGACGC chr3:197041446-Variant-G;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Variant G cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GGCTTGTCTAAT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggGggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAggcttgtctaatAGATCGAGACCCGACGC chr3:197041446-Variant-G;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative T cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CGAGTTGATGTT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcgagttgatgttAGATCGAGACCCGACGC chr3:197041446-Alternative-T;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Reference A cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GTCGCAGGTTGT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAgtcgcaggttgtAGATCGAGACCCGACGC chr3:197041446-Reference-A;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative T cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggttt ACTCTTGAACAG CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAactcttgaacagAGATCGAGACCCGACGC chr3:197041446-Alternative-T;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative T cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggttt CATCTGCGCTGT CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAcatctgcgctgtAGATCGAGACCCGACGC chr3:197041446-Alternative-T;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative T cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggttt AGACGTCTAGAA CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAagacgtctagaaAGATCGAGACCCGACGC chr3:197041446-Alternative-T;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Reference A cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggttt AGTTATCGACCA CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAagttatcgaccaAGATCGAGACCCGACGC chr3:197041446-Reference-A;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Alternative T cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggttt AGATAACGACAC CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggTggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAagataacgacacAGATCGAGACCCGACGC chr3:197041446-Alternative-T;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Reference A cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GGACCGTTATCG CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAggaccgttatcgAGATCGAGACCCGACGC chr3:197041446-Reference-A;Patient-77 chr3:197041446-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA DLG1 15998 Reference A cagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggttt GATATGAGGCTA CGACGCGGTCTCTCTCTcagaacttattatgttcagggtttcaatgtcttcctagcttaatcttgggAggttgtatgtttccaggaatttatccatttcttctaggctttctggtttAGAGGGAGACGGACGTCTCAATAAgatatgaggctaAGATCGAGACCCGACGC chr3:197041446-Reference-A;Patient-77 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Reference G gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CACGTGTTCATT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcacgtgttcattAGATCGAGACCCGACGC chr3:19987903-Reference-G;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Reference G gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CACGACGCCATT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcacgacgccattAGATCGAGACCCGACGC chr3:19987903-Reference-G;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative C gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa GCGGATAGCGTT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAgcggatagcgttAGATCGAGACCCGACGC chr3:19987903-Alternative-C;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Reference G gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CAGATCGACGAA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcagatcgacgaaAGATCGAGACCCGACGC chr3:19987903-Reference-G;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Reference G gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa AGGCGAACGGAA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAaggcgaacggaaAGATCGAGACCCGACGC chr3:19987903-Reference-G;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative C gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa ACGTGCCGTCAT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAacgtgccgtcatAGATCGAGACCCGACGC chr3:19987903-Alternative-C;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative T gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CATCAATAACGC CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcatcaataacgcAGATCGAGACCCGACGC chr3:19987903-Alternative-T;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative T gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CTTAACGCGTGG CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAActtaacgcgtggAGATCGAGACCCGACGC chr3:19987903-Alternative-T;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Variant A gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa AACAACCGCCGT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAaacaaccgccgtAGATCGAGACCCGACGC chr3:19987903-Variant-A;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative C gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa ACAACGGCAATC CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAacaacggcaatcAGATCGAGACCCGACGC chr3:19987903-Alternative-C;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Variant A gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa GGCCGGTACTAA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAggccggtactaaAGATCGAGACCCGACGC chr3:19987903-Variant-A;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative T gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CGCCAACCTAAC CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcgccaacctaacAGATCGAGACCCGACGC chr3:19987903-Alternative-T;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative T gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CGTCGCGTAGTT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcgtcgcgtagttAGATCGAGACCCGACGC chr3:19987903-Alternative-T;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Reference G gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CGGTGATCAGCA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaGaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcggtgatcagcaAGATCGAGACCCGACGC chr3:19987903-Reference-G;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Variant A gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa GAATCGTATCCA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAgaatcgtatccaAGATCGAGACCCGACGC chr3:19987903-Variant-A;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative T gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa AAGGCGCGTCTA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaTaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAaaggcgcgtctaAGATCGAGACCCGACGC chr3:19987903-Alternative-T;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Variant A gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa ACGGTATGCTAT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAacggtatgctatAGATCGAGACCCGACGC chr3:19987903-Variant-A;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Variant A gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CTAGGCCTCGAT CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaAaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAActaggcctcgatAGATCGAGACCCGACGC chr3:19987903-Variant-A;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative C gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa CGAAGTAATCGA CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAcgaagtaatcgaAGATCGAGACCCGACGC chr3:19987903-Alternative-C;Patient-32 chr3:19987903-GA DeNovo Patient-32 intergenic NA 0.000513 0.31 7.33 0.64 RAB5A 668 Alternative C gggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaa ATTGATGGCGCG CGACGCGGTCTCTCTCTgggaacagacgattaacaagttagtttcagaatgaaagactcgagtgtaaCaattcaatgggataattcctgtaaagcgtttagtacagtaaagagcgaaAGAGGGAGACGGACGTCTCAATAAattgatggcgcgAGATCGAGACCCGACGC chr3:19987903-Alternative-C;Patient-32 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative C gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt AATACGGTAGCA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAaatacggtagcaAGATCGAGACCCGACGC chr3:203519-Alternative-C;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative C gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt ACGATGCTCGGT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAacgatgctcggtAGATCGAGACCCGACGC chr3:203519-Alternative-C;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative C gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt AGCTGTCCGTCT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAagctgtccgtctAGATCGAGACCCGACGC chr3:203519-Alternative-C;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative C gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GCAGTAGTCTAC CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgcagtagtctacAGATCGAGACCCGACGC chr3:203519-Alternative-C;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Variant A gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt ATACCGCCGTCT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAataccgccgtctAGATCGAGACCCGACGC chr3:203519-Variant-A;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Variant A gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt ACGAGTACAGTT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAacgagtacagttAGATCGAGACCCGACGC chr3:203519-Variant-A;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Variant A gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GCATACGATTCA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgcatacgattcaAGATCGAGACCCGACGC chr3:203519-Variant-A;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Reference G gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt AATGCGAAGTAC CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAaatgcgaagtacAGATCGAGACCCGACGC chr3:203519-Reference-G;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative C gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GGTTCGCAGTAA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccCgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAggttcgcagtaaAGATCGAGACCCGACGC chr3:203519-Alternative-C;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Reference G gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt CGGTGGAAGACA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAcggtggaagacaAGATCGAGACCCGACGC chr3:203519-Reference-G;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Variant A gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GGTGCGTTAAGG CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAggtgcgttaaggAGATCGAGACCCGACGC chr3:203519-Variant-A;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Reference G gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GGTCGCGTCAAT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAggtcgcgtcaatAGATCGAGACCCGACGC chr3:203519-Reference-G;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Reference G gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt CGGTCACGTATA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAcggtcacgtataAGATCGAGACCCGACGC chr3:203519-Reference-G;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative T gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GACATTGCGATA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgacattgcgataAGATCGAGACCCGACGC chr3:203519-Alternative-T;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Reference G gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GACTGACGTAGG CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccGgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgactgacgtaggAGATCGAGACCCGACGC chr3:203519-Reference-G;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative T gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt CTCAATGAGTAC CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAActcaatgagtacAGATCGAGACCCGACGC chr3:203519-Alternative-T;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative T gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GACTAGATACGA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgactagatacgaAGATCGAGACCCGACGC chr3:203519-Alternative-T;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative T gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt GCGACAATTGCA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAgcgacaattgcaAGATCGAGACCCGACGC chr3:203519-Alternative-T;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Variant A gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt AGATGGTCATGA CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccAgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAAagatggtcatgaAGATCGAGACCCGACGC chr3:203519-Variant-A;Patient-54 chr3:203519-GA Inherited Patient-54 intergenic NA 0.000513 -0.15 0.98 -0.88 CHL1 34759 Alternative T gccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagt CTAGAGGCACCT CGACGCGGTCTCTCTCTgccccctctgggttaggctctctcacaagacactaatcaaggtaacagccTgggctgacatcctctctaggttgaactgggggagaatctgcttctaagtAGAGGGAGACGGACGTCTCAATAActagaggcacctAGATCGAGACCCGACGC chr3:203519-Alternative-T;Patient-54 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative C tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GTAGAATGTGCA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgtagaatgtgcaAGATCGAGACCCGACGC chr3:210787-Alternative-C;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Variant A tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag ACTATACCGTGA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAactataccgtgaAGATCGAGACCCGACGC chr3:210787-Variant-A;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative T tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CTGCTCAGTACC CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAActgctcagtaccAGATCGAGACCCGACGC chr3:210787-Alternative-T;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative C tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GTTCTGTCATGT CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgttctgtcatgtAGATCGAGACCCGACGC chr3:210787-Alternative-C;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative C tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GAGTCTCGGCTA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgagtctcggctaAGATCGAGACCCGACGC chr3:210787-Alternative-C;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative C tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag AGGTTCGGATAA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAaggttcggataaAGATCGAGACCCGACGC chr3:210787-Alternative-C;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Variant A tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GTCGTCGATGCA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgtcgtcgatgcaAGATCGAGACCCGACGC chr3:210787-Variant-A;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative C tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GATGTCGGAGCA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcCcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgatgtcggagcaAGATCGAGACCCGACGC chr3:210787-Alternative-C;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Variant A tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag GATATGAAGCCA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAgatatgaagccaAGATCGAGACCCGACGC chr3:210787-Variant-A;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Variant A tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag ATCAAGTGAACG CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAatcaagtgaacgAGATCGAGACCCGACGC chr3:210787-Variant-A;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative T tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CACGCTAGTCAA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAcacgctagtcaaAGATCGAGACCCGACGC chr3:210787-Alternative-T;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Variant A tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag AAGTGCTCGCCT CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcAcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAaagtgctcgcctAGATCGAGACCCGACGC chr3:210787-Variant-A;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Reference G tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CGCATTCTTGAT CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAcgcattcttgatAGATCGAGACCCGACGC chr3:210787-Reference-G;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Reference G tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CTAGCGACTCGA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAActagcgactcgaAGATCGAGACCCGACGC chr3:210787-Reference-G;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Reference G tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CAGTTGGCGAAC CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAcagttggcgaacAGATCGAGACCCGACGC chr3:210787-Reference-G;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative T tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CGCATTGACACG CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAcgcattgacacgAGATCGAGACCCGACGC chr3:210787-Alternative-T;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Reference G tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag ATAAGCCAACAC CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAataagccaacacAGATCGAGACCCGACGC chr3:210787-Reference-G;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Reference G tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CGGAACGCAACA CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcGcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAcggaacgcaacaAGATCGAGACCCGACGC chr3:210787-Reference-G;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative T tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag CTAATGCTAACG CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAActaatgctaacgAGATCGAGACCCGACGC chr3:210787-Alternative-T;Patient-45 chr3:210787-GA DeNovo Patient-45 intergenic NA 0.000513 -0.22 0.61 0 CHL1 27491 Alternative T tctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccag AGTCAGTGTCGG CGACGCGGTCTCTCTCTtctttttttttaaacaaagtctcgcactgtcacccaggctggagtgcagcTcagtggtatagtggtgtgatctcggatcactgcaaactccatctcccagAGAGGGAGACGGACGTCTCAATAAagtcagtgtcggAGATCGAGACCCGACGC chr3:210787-Alternative-T;Patient-45 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Reference A tatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGGAACATCTGG CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcggaacatctggAGATCGAGACCCGACGC chr3:23195519-Reference-A;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative C tatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcat ACTGCGGTTGCT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAactgcggttgctAGATCGAGACCCGACGC chr3:23195519-Alternative-C;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Reference A tatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcat ATTGCCGAGCGT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAattgccgagcgtAGATCGAGACCCGACGC chr3:23195519-Reference-A;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative T tatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcat ACCGAAGTCAGT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAaccgaagtcagtAGATCGAGACCCGACGC chr3:23195519-Alternative-T;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative T tatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcat AGTTCAAGCTGT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAagttcaagctgtAGATCGAGACCCGACGC chr3:23195519-Alternative-T;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative T tatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcat ACGACGACGTCT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAacgacgacgtctAGATCGAGACCCGACGC chr3:23195519-Alternative-T;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative T tatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcat CACAACCGTCAT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcacaaccgtcatAGATCGAGACCCGACGC chr3:23195519-Alternative-T;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative C tatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGACTACGTATA CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcgactacgtataAGATCGAGACCCGACGC chr3:23195519-Alternative-C;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative C tatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcat GATATTCCGTAC CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAgatattccgtacAGATCGAGACCCGACGC chr3:23195519-Alternative-C;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative C tatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGATCAACCTAT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcgatcaacctatAGATCGAGACCCGACGC chr3:23195519-Alternative-C;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Variant G tatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcat ATCGAGGCTAGG CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAatcgaggctaggAGATCGAGACCCGACGC chr3:23195519-Variant-G;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Reference A tatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcat GATAATGACGGT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAgataatgacggtAGATCGAGACCCGACGC chr3:23195519-Reference-A;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Variant G tatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcat AACGTCAGCCGA CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAaacgtcagccgaAGATCGAGACCCGACGC chr3:23195519-Variant-G;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Reference A tatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcat AGACGCGACGAT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAagacgcgacgatAGATCGAGACCCGACGC chr3:23195519-Reference-A;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative T tatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcat ATATGCGGATGA CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatTtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAatatgcggatgaAGATCGAGACCCGACGC chr3:23195519-Alternative-T;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Alternative C tatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcat GGAACTAACCTT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatCtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAggaactaaccttAGATCGAGACCCGACGC chr3:23195519-Alternative-C;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Reference A tatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcat GCATCCGAACAG CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatAtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAgcatccgaacagAGATCGAGACCCGACGC chr3:23195519-Reference-A;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Variant G tatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGGACTACGTCT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcggactacgtctAGATCGAGACCCGACGC chr3:23195519-Variant-G;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Variant G tatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGGATTCTAGAT CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcggattctagatAGATCGAGACCCGACGC chr3:23195519-Variant-G;Patient-82 chr3:23195519-AG DeNovo Patient-82 intergenic NA 0.000513 -0.09 1.45 0 UBE2E2 49264 Variant G tatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcat CGACACGACATC CGACGCGGTCTCTCTCTtatatacgacatatatcatacatatgttatatacgacatatatcatacatGtgttatatacgacatatatcatacatatgttatatatgacatatatcatAGAGGGAGACGGACGTCTCAATAAcgacacgacatcAGATCGAGACCCGACGC chr3:23195519-Variant-G;Patient-82 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Reference G gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GGAATTCTAGGT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAggaattctaggtAGATCGAGACCCGACGC chr3:23767673-Reference-G;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Reference G gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GGTTCGGCATGT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAggttcggcatgtAGATCGAGACCCGACGC chr3:23767673-Reference-G;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Variant A gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc ACTGTTAGAGCT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAactgttagagctAGATCGAGACCCGACGC chr3:23767673-Variant-A;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative T gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GTTGATTCGAAG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAgttgattcgaagAGATCGAGACCCGACGC chr3:23767673-Alternative-T;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative C gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CATCAACGTACG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcatcaacgtacgAGATCGAGACCCGACGC chr3:23767673-Alternative-C;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative C gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GATTAAGCGTAC CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAgattaagcgtacAGATCGAGACCCGACGC chr3:23767673-Alternative-C;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative C gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc ACATCGTGAGAA CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAacatcgtgagaaAGATCGAGACCCGACGC chr3:23767673-Alternative-C;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Reference G gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CAACGAACACCG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcaacgaacaccgAGATCGAGACCCGACGC chr3:23767673-Reference-G;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Reference G gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc ATTCTGTCGGTT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAattctgtcggttAGATCGAGACCCGACGC chr3:23767673-Reference-G;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Variant A gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CATTGAGTCCGG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcattgagtccggAGATCGAGACCCGACGC chr3:23767673-Variant-A;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Reference G gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CTAATAGCCGCA CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacGaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAActaatagccgcaAGATCGAGACCCGACGC chr3:23767673-Reference-G;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative C gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GATAGGCTCCGT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAgataggctccgtAGATCGAGACCCGACGC chr3:23767673-Alternative-C;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative T gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GACGCGAATACG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAgacgcgaatacgAGATCGAGACCCGACGC chr3:23767673-Alternative-T;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative T gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CGTCGTGCAGAT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcgtcgtgcagatAGATCGAGACCCGACGC chr3:23767673-Alternative-T;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative C gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CGCGGTGGATAA CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacCaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcgcggtggataaAGATCGAGACCCGACGC chr3:23767673-Alternative-C;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Variant A gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CGTGTGATCGGT CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcgtgtgatcggtAGATCGAGACCCGACGC chr3:23767673-Variant-A;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative T gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc CGGCGAGTTCTA CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAcggcgagttctaAGATCGAGACCCGACGC chr3:23767673-Alternative-T;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Variant A gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GGTGTCGTTCGA CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAggtgtcgttcgaAGATCGAGACCCGACGC chr3:23767673-Variant-A;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Alternative T gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc GGATGTATTGAG CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacTaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAggatgtattgagAGATCGAGACCCGACGC chr3:23767673-Alternative-T;Patient-58 chr3:23767673-GA Inherited Patient-58 intergenic 0.000128 0.00154 -0.05 1.9 0.11 UBE2E1 79710 Variant A gctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctc ATTGGTGTAGTC CGACGCGGTCTCTCTCTgctcacgcctgtaatcccagcactctggggggctgaggtgggtgaatcacAaggtcaggagttcacaaccagcctgaccaacatggtgaaaccccatctcAGAGGGAGACGGACGTCTCAATAAattggtgtagtcAGATCGAGACCCGACGC chr3:23767673-Variant-A;Patient-58 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative T tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg ACTGCGTATAAG CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAactgcgtataagAGATCGAGACCCGACGC chr3:24530483-Alternative-T;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative C tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GTACCAAGACCG CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAgtaccaagaccgAGATCGAGACCCGACGC chr3:24530483-Alternative-C;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Reference A tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CGACATATACAC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAcgacatatacacAGATCGAGACCCGACGC chr3:24530483-Reference-A;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative T tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg AGCATGACGATA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAagcatgacgataAGATCGAGACCCGACGC chr3:24530483-Alternative-T;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Reference A tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GTCCGGTAAGCA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAgtccggtaagcaAGATCGAGACCCGACGC chr3:24530483-Reference-A;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Reference A tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg AGGAGATGATGA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAaggagatgatgaAGATCGAGACCCGACGC chr3:24530483-Reference-A;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Reference A tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CTCATTCGCGAC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAActcattcgcgacAGATCGAGACCCGACGC chr3:24530483-Reference-A;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Reference A tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg AACGTCGTGCAC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcAtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAaacgtcgtgcacAGATCGAGACCCGACGC chr3:24530483-Reference-A;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative T tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GTAGTCAACATC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAgtagtcaacatcAGATCGAGACCCGACGC chr3:24530483-Alternative-T;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative C tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CTCGTTCGGTAC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAActcgttcggtacAGATCGAGACCCGACGC chr3:24530483-Alternative-C;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative C tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg ATTCCACGTAAG CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAattccacgtaagAGATCGAGACCCGACGC chr3:24530483-Alternative-C;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative C tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GGTGTCACCTTC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAggtgtcaccttcAGATCGAGACCCGACGC chr3:24530483-Alternative-C;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative C tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CGAGGCTAATTA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcCtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAcgaggctaattaAGATCGAGACCCGACGC chr3:24530483-Alternative-C;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative T tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CGAGTTGCGATA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAcgagttgcgataAGATCGAGACCCGACGC chr3:24530483-Alternative-T;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Variant G tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg AGCAATGGATGA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAagcaatggatgaAGATCGAGACCCGACGC chr3:24530483-Variant-G;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Variant G tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CTTACGACATTC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAActtacgacattcAGATCGAGACCCGACGC chr3:24530483-Variant-G;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Alternative T tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GGCGTCGGATAA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcTtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAggcgtcggataaAGATCGAGACCCGACGC chr3:24530483-Alternative-T;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Variant G tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg GTACACCTCTAT CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAgtacacctctatAGATCGAGACCCGACGC chr3:24530483-Variant-G;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Variant G tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CTACGCGAGTAC CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAActacgcgagtacAGATCGAGACCCGACGC chr3:24530483-Variant-G;Patient-37 chr3:24530483-AG DeNovo Patient-37 intronic THRB 9.6e-05 0.000159744 -0.02 2.28 0.16 THRB 5829 Variant G tggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgagg CGCTAGATTCGA CGACGCGGTCTCTCTCTtggatgttggtcaatcaataaaatcaactgaatgatttcagtggtggttcGtgcctgtaatcccagaactttgggaggctgaggtgggcagatcacgaggAGAGGGAGACGGACGTCTCAATAAcgctagattcgaAGATCGAGACCCGACGC chr3:24530483-Variant-G;Patient-37 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Variant A gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GCGCTACGTGTT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgcgctacgtgttAGATCGAGACCCGACGC chr3:25458295-Variant-A;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Reference G gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CGAACACAACCG CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAcgaacacaaccgAGATCGAGACCCGACGC chr3:25458295-Reference-G;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative C gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CATTGCGAGCTA CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAcattgcgagctaAGATCGAGACCCGACGC chr3:25458295-Alternative-C;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative T gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg ACAAGGTATCGG CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAacaaggtatcggAGATCGAGACCCGACGC chr3:25458295-Alternative-T;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Reference G gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GGCGAAGTTCCA CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAggcgaagttccaAGATCGAGACCCGACGC chr3:25458295-Reference-G;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Variant A gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg ATCTGTCGCATT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAatctgtcgcattAGATCGAGACCCGACGC chr3:25458295-Variant-A;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative T gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CGACGATTGTCG CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAcgacgattgtcgAGATCGAGACCCGACGC chr3:25458295-Alternative-T;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Reference G gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg AACGTCTGTCAA CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAaacgtctgtcaaAGATCGAGACCCGACGC chr3:25458295-Reference-G;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative T gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GCCTTGAAGATT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgccttgaagattAGATCGAGACCCGACGC chr3:25458295-Alternative-T;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Reference G gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CGTACTGAATCA CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAcgtactgaatcaAGATCGAGACCCGACGC chr3:25458295-Reference-G;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Variant A gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg ACGGCGACAATT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAacggcgacaattAGATCGAGACCCGACGC chr3:25458295-Variant-A;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Variant A gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CTCGCACCATAT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAActcgcaccatatAGATCGAGACCCGACGC chr3:25458295-Variant-A;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative C gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GCGAGTATTGTT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgcgagtattgttAGATCGAGACCCGACGC chr3:25458295-Alternative-C;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Variant A gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GTGACGTCGTGT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacAtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgtgacgtcgtgtAGATCGAGACCCGACGC chr3:25458295-Variant-A;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative T gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg ACATCGAACGGC CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAacatcgaacggcAGATCGAGACCCGACGC chr3:25458295-Alternative-T;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative T gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg AAGTACCTGACG CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacTtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAaagtacctgacgAGATCGAGACCCGACGC chr3:25458295-Alternative-T;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Reference G gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GTGTAATCCGAA CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacGtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgtgtaatccgaaAGATCGAGACCCGACGC chr3:25458295-Reference-G;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative C gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg CATAGCGAACGC CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAcatagcgaacgcAGATCGAGACCCGACGC chr3:25458295-Alternative-C;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative C gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg GACGAGGCTGAT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAgacgaggctgatAGATCGAGACCCGACGC chr3:25458295-Alternative-C;Patient-39 chr3:25458295-GA DeNovo Patient-39 intergenic 6.4e-05 6.28e-05 -0.49 0.1 -5.85 RARB 11458 Alternative C gacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttgg AGCCTGAACAGT CGACGCGGTCTCTCTCTgacttgagtatggtgttgggcagccttactcagttctttcagaggggcacCtcactcgttttgtcatggacttctatggggcactcagcaatgtgtttggAGAGGGAGACGGACGTCTCAATAAagcctgaacagtAGATCGAGACCCGACGC chr3:25458295-Alternative-C;Patient-39 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative G ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CATATGCGGCGA CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcatatgcggcgaAGATCGAGACCCGACGC chr3:26744238-Alternative-G;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Reference C ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CATAGCGCTGCA CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcatagcgctgcaAGATCGAGACCCGACGC chr3:26744238-Reference-C;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative G ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc GAGTGTCTAACT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAgagtgtctaactAGATCGAGACCCGACGC chr3:26744238-Alternative-G;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Reference C ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CTCTGGTCGTCA CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAActctggtcgtcaAGATCGAGACCCGACGC chr3:26744238-Reference-C;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Variant T ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc GGAGTCGTCCAT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAggagtcgtccatAGATCGAGACCCGACGC chr3:26744238-Variant-T;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative A ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CATTGTGGTCGG CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcattgtggtcggAGATCGAGACCCGACGC chr3:26744238-Alternative-A;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative G ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CGAGTGTACCGT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcgagtgtaccgtAGATCGAGACCCGACGC chr3:26744238-Alternative-G;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Reference C ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc ATACGAATGCGT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAatacgaatgcgtAGATCGAGACCCGACGC chr3:26744238-Reference-C;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Reference C ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc GGTAGGATGTGC CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAggtaggatgtgcAGATCGAGACCCGACGC chr3:26744238-Reference-C;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Reference C ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc ACAATGCGATAC CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggCttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAacaatgcgatacAGATCGAGACCCGACGC chr3:26744238-Reference-C;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Variant T ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc GATTACGCTAAC CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAgattacgctaacAGATCGAGACCCGACGC chr3:26744238-Variant-T;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative G ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CACATAAGATGG CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcacataagatggAGATCGAGACCCGACGC chr3:26744238-Alternative-G;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative A ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc AGTACTTAGCCA CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAagtacttagccaAGATCGAGACCCGACGC chr3:26744238-Alternative-A;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative A ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CGGTCCTACTTC CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcggtcctacttcAGATCGAGACCCGACGC chr3:26744238-Alternative-A;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative G ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc GGCGGTATTAGG CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggGttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAggcggtattaggAGATCGAGACCCGACGC chr3:26744238-Alternative-G;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative A ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc AGCGTAGTGCGA CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAagcgtagtgcgaAGATCGAGACCCGACGC chr3:26744238-Alternative-A;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Variant T ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CAGCGTATGCGT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcagcgtatgcgtAGATCGAGACCCGACGC chr3:26744238-Variant-T;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Variant T ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc AGCTAGGTGACG CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAagctaggtgacgAGATCGAGACCCGACGC chr3:26744238-Variant-T;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Alternative A ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CTCGTGTATCGC CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggAttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAActcgtgtatcgcAGATCGAGACCCGACGC chr3:26744238-Alternative-A;Patient-79 chr3:26744238-CT DeNovo Patient-79 intronic LRRC3B 6.4e-05 0.000159744 -0.37 0.22 -2.99 LRRC3B 79937 Variant T ttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggc CGTCTATGCTAT CGACGCGGTCTCTCTCTttagaaggatggaagcacagagactggacaccaacaattcaggaaggaggTttttgctctttcagaacaggatgttggagatctgaattaggaaagaggcAGAGGGAGACGGACGTCTCAATAAcgtctatgctatAGATCGAGACCCGACGC chr3:26744238-Variant-T;Patient-79 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Reference A agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaat ATAGGCCTCGAC CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAataggcctcgacAGATCGAGACCCGACGC chr3:27739443-Reference-A;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative C agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GGATGTCGGTCT CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAggatgtcggtctAGATCGAGACCCGACGC chr3:27739443-Alternative-C;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Variant G agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GTCATTAGCGAT CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgtcattagcgatAGATCGAGACCCGACGC chr3:27739443-Variant-G;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Variant G agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaat ACCTAGTAACGT CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAacctagtaacgtAGATCGAGACCCGACGC chr3:27739443-Variant-G;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Reference A agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaat CGAATCACGCAT CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAcgaatcacgcatAGATCGAGACCCGACGC chr3:27739443-Reference-A;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative T agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaat AATAGCTCTCGA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAaatagctctcgaAGATCGAGACCCGACGC chr3:27739443-Alternative-T;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative T agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaat AATCTAGCCTAC CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAaatctagcctacAGATCGAGACCCGACGC chr3:27739443-Alternative-T;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative T agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GCACGCTAGCAA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgcacgctagcaaAGATCGAGACCCGACGC chr3:27739443-Alternative-T;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Reference A agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaat CGTCGCCATCAA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAcgtcgccatcaaAGATCGAGACCCGACGC chr3:27739443-Reference-A;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Variant G agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaat CTTGGTAGATGG CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAActtggtagatggAGATCGAGACCCGACGC chr3:27739443-Variant-G;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative T agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaat ATTGCGTCGTTA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAattgcgtcgttaAGATCGAGACCCGACGC chr3:27739443-Alternative-T;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Reference A agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaat CTAACTGGCGCA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAActaactggcgcaAGATCGAGACCCGACGC chr3:27739443-Reference-A;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Variant G agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GAGCTGTCTAAC CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgagctgtctaacAGATCGAGACCCGACGC chr3:27739443-Variant-G;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative T agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaat CACGTGCGTGAT CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatTaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAcacgtgcgtgatAGATCGAGACCCGACGC chr3:27739443-Alternative-T;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative C agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GTGTATCTGCGG CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgtgtatctgcggAGATCGAGACCCGACGC chr3:27739443-Alternative-C;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative C agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GGCCGCGATTAA CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAggccgcgattaaAGATCGAGACCCGACGC chr3:27739443-Alternative-C;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative C agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GTACCAATTAGG CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgtaccaattaggAGATCGAGACCCGACGC chr3:27739443-Alternative-C;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Reference A agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaat GCATGCGAACAC CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatAaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAgcatgcgaacacAGATCGAGACCCGACGC chr3:27739443-Reference-A;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Alternative C agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaat AACTTCAGGTAC CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatCaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAaacttcaggtacAGATCGAGACCCGACGC chr3:27739443-Alternative-C;Patient-22 chr3:27739443-AG DeNovo Patient-22 intergenic NA 0.000513 0.13 4.74 0.57 EOMES 24762 Variant G agaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaat ATCGTTAGCCGG CGACGCGGTCTCTCTCTagaagaaaatgcttgtaatatatattaaatggttcctaagcattacagatGaagaattattacaaatcaataataaaaataaaatcacataggagaaaatAGAGGGAGACGGACGTCTCAATAAatcgttagccggAGATCGAGACCCGACGC chr3:27739443-Variant-G;Patient-22 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative C gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagc CGATGACTAACG CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgatgactaacgAGATCGAGACCCGACGC chr3:32128335-Alternative-C;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Variant G gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagc GTGTCGAAGGAC CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAgtgtcgaaggacAGATCGAGACCCGACGC chr3:32128335-Variant-G;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Variant G gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagc CAGCAACACTTA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcagcaacacttaAGATCGAGACCCGACGC chr3:32128335-Variant-G;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Variant G gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagc CACTGAAGTACT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcactgaagtactAGATCGAGACCCGACGC chr3:32128335-Variant-G;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative T gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagc GATCGCCAATGA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAgatcgccaatgaAGATCGAGACCCGACGC chr3:32128335-Alternative-T;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Variant G gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagc CGTGCATCTGCT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgtgcatctgctAGATCGAGACCCGACGC chr3:32128335-Variant-G;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Reference A gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagc ATACGGTTGGTT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAatacggttggttAGATCGAGACCCGACGC chr3:32128335-Reference-A;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative T gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagc AGTCTCTTACGT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAagtctcttacgtAGATCGAGACCCGACGC chr3:32128335-Alternative-T;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Variant G gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagc GACTATGACTGA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccGcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAgactatgactgaAGATCGAGACCCGACGC chr3:32128335-Variant-G;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative T gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagc CGCGTAGTCAAG CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgcgtagtcaagAGATCGAGACCCGACGC chr3:32128335-Alternative-T;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Reference A gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagc CTTAACAGCACA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAActtaacagcacaAGATCGAGACCCGACGC chr3:32128335-Reference-A;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Reference A gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagc CTCGTGTCGGAA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAActcgtgtcggaaAGATCGAGACCCGACGC chr3:32128335-Reference-A;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative C gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagc CGTCAAGTCATA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgtcaagtcataAGATCGAGACCCGACGC chr3:32128335-Alternative-C;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative C gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagc ACTACGCGGCAT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAactacgcggcatAGATCGAGACCCGACGC chr3:32128335-Alternative-C;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative T gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagc GCCGCATATAAT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAgccgcatataatAGATCGAGACCCGACGC chr3:32128335-Alternative-T;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Reference A gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagc GCCACTACGGAT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAgccactacggatAGATCGAGACCCGACGC chr3:32128335-Reference-A;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative C gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagc AGAACGTGTTGT CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAagaacgtgttgtAGATCGAGACCCGACGC chr3:32128335-Alternative-C;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative T gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagc CGTATCCTTCGG CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccTcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgtatccttcggAGATCGAGACCCGACGC chr3:32128335-Alternative-T;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Alternative C gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagc CGATCGAGCTGA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccCcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgatcgagctgaAGATCGAGACCCGACGC chr3:32128335-Alternative-C;Patient-26 chr3:32128335-AG DeNovo Patient-26 intergenic NA 0.000513 0.21 6.04 0.16 GPD1L 19667 Reference A gggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagc CGTGTGGATCCA CGACGCGGTCTCTCTCTgggctccttgtttctagtgagcaagggccttgagcttccacagcccttccAcagtataggtaataatactattactataaatttattgggtagaaagagcAGAGGGAGACGGACGTCTCAATAAcgtgtggatccaAGATCGAGACCCGACGC chr3:32128335-Reference-A;Patient-26 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative A caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa ACAGCAAGTGCT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAacagcaagtgctAGATCGAGACCCGACGC chr3:32193995-Alternative-A;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative A caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GACGAATCGAAT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgacgaatcgaatAGATCGAGACCCGACGC chr3:32193995-Alternative-A;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Reference C caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GGTAGCCGTAGT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAggtagccgtagtAGATCGAGACCCGACGC chr3:32193995-Reference-C;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Reference C caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa CGCAAGCAACCA CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAcgcaagcaaccaAGATCGAGACCCGACGC chr3:32193995-Reference-C;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Reference C caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa AACTACGTACCA CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAaactacgtaccaAGATCGAGACCCGACGC chr3:32193995-Reference-C;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Reference C caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa CGGTAGCTTGCT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAcggtagcttgctAGATCGAGACCCGACGC chr3:32193995-Reference-C;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative A caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa CTGCTATACGTT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAActgctatacgttAGATCGAGACCCGACGC chr3:32193995-Alternative-A;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative G caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GGATGATTAGGT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAggatgattaggtAGATCGAGACCCGACGC chr3:32193995-Alternative-G;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Reference C caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GTTCAAGCTACG CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacCttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgttcaagctacgAGATCGAGACCCGACGC chr3:32193995-Reference-C;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Variant T caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GTGGCATCGGAT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgtggcatcggatAGATCGAGACCCGACGC chr3:32193995-Variant-T;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative G caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa AATCGTCTTGAC CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAaatcgtcttgacAGATCGAGACCCGACGC chr3:32193995-Alternative-G;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative A caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa ACCAAGCAGTCG CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAaccaagcagtcgAGATCGAGACCCGACGC chr3:32193995-Alternative-A;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative G caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GGTTCAGGTATT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAggttcaggtattAGATCGAGACCCGACGC chr3:32193995-Alternative-G;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative G caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GACCTATTCCTA CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgacctattcctaAGATCGAGACCCGACGC chr3:32193995-Alternative-G;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative G caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa ACTCCTAAGCTT CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacGttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAactcctaagcttAGATCGAGACCCGACGC chr3:32193995-Alternative-G;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Variant T caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa CGAATACTACGC CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAcgaatactacgcAGATCGAGACCCGACGC chr3:32193995-Variant-T;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Variant T caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GATATGCGAATC CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgatatgcgaatcAGATCGAGACCCGACGC chr3:32193995-Variant-T;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Variant T caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa ATTATTAGGCGG CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAattattaggcggAGATCGAGACCCGACGC chr3:32193995-Variant-T;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Alternative A caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa GTGGCATGTCAC CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacAttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAgtggcatgtcacAGATCGAGACCCGACGC chr3:32193995-Alternative-A;Patient-110 chr3:32193995-CT DeNovo Patient-110 intronic GPD1L NA 3.98e-05 -0.1 1.41 -0.2 GPD1L 45991 Variant T caccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaa ATCGGCCATCGA CGACGCGGTCTCTCTCTcaccagcagttctggtgtctcatgagggcacggtctgttccaagtggcacTttgaatgctgccggaggggaggagcgctgaccctcatgcaacagaggaaAGAGGGAGACGGACGTCTCAATAAatcggccatcgaAGATCGAGACCCGACGC chr3:32193995-Variant-T;Patient-110 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative A tgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GTGAACGTGTAA CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgtgaacgtgtaaAGATCGAGACCCGACGC chr3:322375-Alternative-A;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Reference C tgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GGTGAACGCTGA CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAggtgaacgctgaAGATCGAGACCCGACGC chr3:322375-Reference-C;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative A tgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga CAGCATGCAGCT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAcagcatgcagctAGATCGAGACCCGACGC chr3:322375-Alternative-A;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative A tgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga ACGAAGATGCGG CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAacgaagatgcggAGATCGAGACCCGACGC chr3:322375-Alternative-A;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Reference C tgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GCGTGATGATAA CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgcgtgatgataaAGATCGAGACCCGACGC chr3:322375-Reference-C;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Variant T tgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga CACGCGTTCGAT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAcacgcgttcgatAGATCGAGACCCGACGC chr3:322375-Variant-T;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Variant T tgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga AGTTGGACGATA CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAagttggacgataAGATCGAGACCCGACGC chr3:322375-Variant-T;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative A tgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GTCCGGATAGGT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgtccggataggtAGATCGAGACCCGACGC chr3:322375-Alternative-A;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Variant T tgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga ACATGCGATACG CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAacatgcgatacgAGATCGAGACCCGACGC chr3:322375-Variant-T;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative G tgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga CGTAGCGTTATC CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAcgtagcgttatcAGATCGAGACCCGACGC chr3:322375-Alternative-G;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Reference C tgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GATCCGACTTCT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgatccgacttctAGATCGAGACCCGACGC chr3:322375-Reference-C;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Variant T tgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GATAAGCGCGTC CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgataagcgcgtcAGATCGAGACCCGACGC chr3:322375-Variant-T;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Variant T tgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga ACTTACTCGCTA CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacTaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAacttactcgctaAGATCGAGACCCGACGC chr3:322375-Variant-T;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative G tgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga CGCTATGACGAC CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAcgctatgacgacAGATCGAGACCCGACGC chr3:322375-Alternative-G;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative G tgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GCGGTTCCAACT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAgcggttccaactAGATCGAGACCCGACGC chr3:322375-Alternative-G;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative G tgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga ACGCTCGCGTAT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAacgctcgcgtatAGATCGAGACCCGACGC chr3:322375-Alternative-G;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative A tgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga AGTGATCGGTTC CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacAaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAagtgatcggttcAGATCGAGACCCGACGC chr3:322375-Alternative-A;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Alternative G tgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga GGTCGACGTGTT CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacGaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAggtcgacgtgttAGATCGAGACCCGACGC chr3:322375-Alternative-G;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Reference C tgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga AATCTGTGAACC CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAaatctgtgaaccAGATCGAGACCCGACGC chr3:322375-Reference-C;Patient-87 chr3:322375-CT Inherited Patient-87 intronic CHL1 0.000733 0.000639 -0.14 1.09 -0.16 CHL1 84095 Reference C tgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatga AGTTGACATGAG CGACGCGGTCTCTCTCTtgcaggactcaagagcttccaccattagaaactatcacctttactaccacCaacaaaatacctttttctctgagaaggagtcagtgaagggtagagatgaAGAGGGAGACGGACGTCTCAATAAagttgacatgagAGATCGAGACCCGACGC chr3:322375-Reference-C;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Variant G tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc ATCTGACGAGAA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAatctgacgagaaAGATCGAGACCCGACGC chr3:32892349-Variant-G;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Variant G tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CAAGCCGCTTAT CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcaagccgcttatAGATCGAGACCCGACGC chr3:32892349-Variant-G;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative T tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CAGCGACACATC CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcagcgacacatcAGATCGAGACCCGACGC chr3:32892349-Alternative-T;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative T tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc AGTCCGTCGCTT CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAagtccgtcgcttAGATCGAGACCCGACGC chr3:32892349-Alternative-T;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Variant G tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc GCCGGTCAGTAA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAgccggtcagtaaAGATCGAGACCCGACGC chr3:32892349-Variant-G;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Variant G tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CGTGGCGTATCA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcgtggcgtatcaAGATCGAGACCCGACGC chr3:32892349-Variant-G;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative T tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc AACACGATGTGA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAaacacgatgtgaAGATCGAGACCCGACGC chr3:32892349-Alternative-T;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Variant G tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CTTAGGCATCAG CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcGttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAActtaggcatcagAGATCGAGACCCGACGC chr3:32892349-Variant-G;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative T tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CTGCGATCAAGT CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAActgcgatcaagtAGATCGAGACCCGACGC chr3:32892349-Alternative-T;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Reference A tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc GGACCACGAATA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAggaccacgaataAGATCGAGACCCGACGC chr3:32892349-Reference-A;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative T tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CGGATCATCGTC CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcTttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcggatcatcgtcAGATCGAGACCCGACGC chr3:32892349-Alternative-T;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Reference A tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CAGCTAATTGAC CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcagctaattgacAGATCGAGACCCGACGC chr3:32892349-Reference-A;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative C tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc CAAGTCATGAGA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAcaagtcatgagaAGATCGAGACCCGACGC chr3:32892349-Alternative-C;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Reference A tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc AATGATCGTTCG CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAaatgatcgttcgAGATCGAGACCCGACGC chr3:32892349-Reference-A;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative C tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc ATTGACCGTCGC CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAattgaccgtcgcAGATCGAGACCCGACGC chr3:32892349-Alternative-C;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Reference A tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc GACTGATTCCTA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAgactgattcctaAGATCGAGACCCGACGC chr3:32892349-Reference-A;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Reference A tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc ACCTCCGTTATA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcAttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAacctccgttataAGATCGAGACCCGACGC chr3:32892349-Reference-A;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative C tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc GGAGAACGAACG CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAggagaacgaacgAGATCGAGACCCGACGC chr3:32892349-Alternative-C;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative C tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc ACGCAGCGTGAA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAacgcagcgtgaaAGATCGAGACCCGACGC chr3:32892349-Alternative-C;Patient-87 chr3:32892349-AG Inherited Patient-87 intronic TRIM71 NA 4.95e-05 1.92 18.45 3.04 TRIM71 32838 Alternative C tgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccacc ACTGAACAAGCA CGACGCGGTCTCTCTCTtgggattaatcatttccttttgaccttgtgctctgcccctaacatgttgcCttgatcagatcccgaaatctcaagtcattctccacccccaccacccaccAGAGGGAGACGGACGTCTCAATAAactgaacaagcaAGATCGAGACCCGACGC chr3:32892349-Alternative-C;Patient-87 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative C tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac ACCAACCGTCAT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAaccaaccgtcatAGATCGAGACCCGACGC chr3:33779812-Alternative-C;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Reference T tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CGAGATGCTGAG CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAcgagatgctgagAGATCGAGACCCGACGC chr3:33779812-Reference-T;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative G tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CTGAACGGCTGT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAActgaacggctgtAGATCGAGACCCGACGC chr3:33779812-Alternative-G;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Reference T tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac AAGGCACCTACG CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAaaggcacctacgAGATCGAGACCCGACGC chr3:33779812-Reference-T;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative G tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GGAGATCGTCGA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAggagatcgtcgaAGATCGAGACCCGACGC chr3:33779812-Alternative-G;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Reference T tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GTTGGTGTCACG CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAgttggtgtcacgAGATCGAGACCCGACGC chr3:33779812-Reference-T;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative G tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac ATCTGTGGATAC CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAatctgtggatacAGATCGAGACCCGACGC chr3:33779812-Alternative-G;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Reference T tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GGAATATAGCGT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAggaatatagcgtAGATCGAGACCCGACGC chr3:33779812-Reference-T;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative C tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac ATTACCGCTCTA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAattaccgctctaAGATCGAGACCCGACGC chr3:33779812-Alternative-C;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative G tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GCGAACGTAATA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAgcgaacgtaataAGATCGAGACCCGACGC chr3:33779812-Alternative-G;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative C tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac ACTTCCAATCGT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAacttccaatcgtAGATCGAGACCCGACGC chr3:33779812-Alternative-C;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative G tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac AACGCGCCTAGT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaGcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAaacgcgcctagtAGATCGAGACCCGACGC chr3:33779812-Alternative-G;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative C tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CAAGCGTACAAT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAcaagcgtacaatAGATCGAGACCCGACGC chr3:33779812-Alternative-C;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Variant A tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CAACGACTGGTT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAcaacgactggttAGATCGAGACCCGACGC chr3:33779812-Variant-A;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Variant A tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GATGATGCGAAC CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAgatgatgcgaacAGATCGAGACCCGACGC chr3:33779812-Variant-A;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Reference T tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GCCTTGTACGCA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaTcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAgccttgtacgcaAGATCGAGACCCGACGC chr3:33779812-Reference-T;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Alternative C tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CACAGCATCACA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaCcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAcacagcatcacaAGATCGAGACCCGACGC chr3:33779812-Alternative-C;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Variant A tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac GATGCATGACTT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAgatgcatgacttAGATCGAGACCCGACGC chr3:33779812-Variant-A;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Variant A tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac ACAAGCTCGCCA CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAacaagctcgccaAGATCGAGACCCGACGC chr3:33779812-Variant-A;Patient-11 chr3:33779812-TA DeNovo Patient-11 intergenic NA 0.000513 0.1 4.27 0.84 CLASP2 20106 Variant A tgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaac CGGAACTATACT CGACGCGGTCTCTCTCTtgtgagcttgagattatttcaaattaaaaatttgtttaagtcatgaaaaaAcaaaagctttattcaaaattttaaaaatatatattaaaatagttaaaacAGAGGGAGACGGACGTCTCAATAAcggaactatactAGATCGAGACCCGACGC chr3:33779812-Variant-A;Patient-11 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Reference T caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GGTCGATTCTGG CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAggtcgattctggAGATCGAGACCCGACGC chr3:36746629-Reference-T;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Reference T caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ATCTAGGTCGCG CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAatctaggtcgcgAGATCGAGACCCGACGC chr3:36746629-Reference-T;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Reference T caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ACTCTTCGCCAA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAactcttcgccaaAGATCGAGACCCGACGC chr3:36746629-Reference-T;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative A caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ACTCTACGCACG CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAactctacgcacgAGATCGAGACCCGACGC chr3:36746629-Alternative-A;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative A caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GGTACTTGTAAC CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAggtacttgtaacAGATCGAGACCCGACGC chr3:36746629-Alternative-A;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative A caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GTTCACAAGTAC CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAgttcacaagtacAGATCGAGACCCGACGC chr3:36746629-Alternative-A;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative A caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc AATGCTACCGAT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAaatgctaccgatAGATCGAGACCCGACGC chr3:36746629-Alternative-A;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Reference T caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GGCGCTAAGCAT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAggcgctaagcatAGATCGAGACCCGACGC chr3:36746629-Reference-T;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative G caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc CGGAGACTGCAT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAcggagactgcatAGATCGAGACCCGACGC chr3:36746629-Alternative-G;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Reference T caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ACTATACGGCCA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatTatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAactatacggccaAGATCGAGACCCGACGC chr3:36746629-Reference-T;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Variant C caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GGACGTAACATT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAggacgtaacattAGATCGAGACCCGACGC chr3:36746629-Variant-C;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative A caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc AGTGAACAGCAT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatAatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAagtgaacagcatAGATCGAGACCCGACGC chr3:36746629-Alternative-A;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative G caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GTGTACGACTTA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAgtgtacgacttaAGATCGAGACCCGACGC chr3:36746629-Alternative-G;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Variant C caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc GACGATAGCCGA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAgacgatagccgaAGATCGAGACCCGACGC chr3:36746629-Variant-C;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative G caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc CGTGAAGGTCAA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAcgtgaaggtcaaAGATCGAGACCCGACGC chr3:36746629-Alternative-G;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Variant C caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc CGCCTCTTAGGT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAcgcctcttaggtAGATCGAGACCCGACGC chr3:36746629-Variant-C;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Variant C caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ACGCGACTCGTT CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAacgcgactcgttAGATCGAGACCCGACGC chr3:36746629-Variant-C;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Variant C caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc AGGTATTCGTAC CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatCatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAaggtattcgtacAGATCGAGACCCGACGC chr3:36746629-Variant-C;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative G caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc ACCGGCATCAAG CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAaccggcatcaagAGATCGAGACCCGACGC chr3:36746629-Alternative-G;Patient-72 chr3:36746629-TC DeNovo Patient-72 intergenic 0.000255 0.001538462 0 2.6 0.42 DCLK3 34722 Alternative G caacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaaccc CATCGAGCTAGA CGACGCGGTCTCTCTCTcaacctgggaaaacagaaccatggaaaacaacactcagtcactcagagatGatggaagggaagaagtctgtgttgggaagcctggtaaaggaaaaaacccAGAGGGAGACGGACGTCTCAATAAcatcgagctagaAGATCGAGACCCGACGC chr3:36746629-Alternative-G;Patient-72 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative G ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa ACGAAGGACGAG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAacgaaggacgagAGATCGAGACCCGACGC chr3:37121472-Alternative-G;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative G ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa AGCCGTATTAAG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAagccgtattaagAGATCGAGACCCGACGC chr3:37121472-Alternative-G;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative G ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GTACACCTACAC CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgtacacctacacAGATCGAGACCCGACGC chr3:37121472-Alternative-G;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Reference T ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa CTGAGTTCCGTC CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAActgagttccgtcAGATCGAGACCCGACGC chr3:37121472-Reference-T;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative G ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GAGTAGTACCTT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgagtagtaccttAGATCGAGACCCGACGC chr3:37121472-Alternative-G;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative G ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa CAAGTCGCCTAC CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaGactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAcaagtcgcctacAGATCGAGACCCGACGC chr3:37121472-Alternative-G;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Reference T ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa CGTTAACACGAT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAcgttaacacgatAGATCGAGACCCGACGC chr3:37121472-Reference-T;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Reference T ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GTCAACGCATCG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgtcaacgcatcgAGATCGAGACCCGACGC chr3:37121472-Reference-T;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative A ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GGCTTGTCTGAG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAggcttgtctgagAGATCGAGACCCGACGC chr3:37121472-Alternative-A;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative A ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa CGATGCATCAAT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAcgatgcatcaatAGATCGAGACCCGACGC chr3:37121472-Alternative-A;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative A ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GTACTAGGCGGT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgtactaggcggtAGATCGAGACCCGACGC chr3:37121472-Alternative-A;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative A ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GCCGCTAAGAGT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgccgctaagagtAGATCGAGACCCGACGC chr3:37121472-Alternative-A;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Alternative A ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa ACTCCTATTCGA CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaAactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAactcctattcgaAGATCGAGACCCGACGC chr3:37121472-Alternative-A;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Reference T ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GGTAGTCGTAGG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAggtagtcgtaggAGATCGAGACCCGACGC chr3:37121472-Reference-T;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Reference T ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GTCGTTACAACT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaTactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgtcgttacaactAGATCGAGACCCGACGC chr3:37121472-Reference-T;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Variant C ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa CAGATGTCTCTT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAcagatgtctcttAGATCGAGACCCGACGC chr3:37121472-Variant-C;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Variant C ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GGATCAATTCGC CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAggatcaattcgcAGATCGAGACCCGACGC chr3:37121472-Variant-C;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Variant C ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa AACTCATTGCCG CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAaactcattgccgAGATCGAGACCCGACGC chr3:37121472-Variant-C;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Variant C ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa AATCGAACCTAC CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAaatcgaacctacAGATCGAGACCCGACGC chr3:37121472-Variant-C;Patient-79 chr3:37121472-TC DeNovo Patient-79 intronic LRRFIP2 0.000127 4.95e-05 0.33 7.58 1.23 MLH1 86630 Variant C ggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaa GACTAGTTGTGT CGACGCGGTCTCTCTCTggaagatgatactaaagggtatatggtttctttctgaggtaatgaaaacaCactaaaagtaactgtgatgaaggttacacatatatgtgaatatactaaaAGAGGGAGACGGACGTCTCAATAAgactagttgtgtAGATCGAGACCCGACGC chr3:37121472-Variant-C;Patient-79 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative C agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca ATTCGTCCTAGT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAattcgtcctagtAGATCGAGACCCGACGC chr3:38607282-Alternative-C;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative C agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca ACTCGTGTTGCG CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAactcgtgttgcgAGATCGAGACCCGACGC chr3:38607282-Alternative-C;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative C agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CTAGTAGTGTAC CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAActagtagtgtacAGATCGAGACCCGACGC chr3:38607282-Alternative-C;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative C agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CTCTACTACTTC CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAActctactacttcAGATCGAGACCCGACGC chr3:38607282-Alternative-C;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative C agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GCGCTCACTTCT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcCtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgcgctcacttctAGATCGAGACCCGACGC chr3:38607282-Alternative-C;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Reference A agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GATGTAGGTAGT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgatgtaggtagtAGATCGAGACCCGACGC chr3:38607282-Reference-A;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Reference A agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CAGTTGGACCGA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAcagttggaccgaAGATCGAGACCCGACGC chr3:38607282-Reference-A;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Reference A agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GGTGTACGTAGG CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAggtgtacgtaggAGATCGAGACCCGACGC chr3:38607282-Reference-A;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Reference A agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GCGTAACGATGA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgcgtaacgatgaAGATCGAGACCCGACGC chr3:38607282-Reference-A;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Reference A agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GGAGTTGACGGT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcAtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAggagttgacggtAGATCGAGACCCGACGC chr3:38607282-Reference-A;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative T agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca AAGGCTCGAGCA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAaaggctcgagcaAGATCGAGACCCGACGC chr3:38607282-Alternative-T;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative T agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CGATGACTTAAC CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAcgatgacttaacAGATCGAGACCCGACGC chr3:38607282-Alternative-T;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative T agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CGGATTACTATC CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAcggattactatcAGATCGAGACCCGACGC chr3:38607282-Alternative-T;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative T agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca ATAAGACGGTAC CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAataagacggtacAGATCGAGACCCGACGC chr3:38607282-Alternative-T;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Alternative T agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GCGATTGTAGAA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcTtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgcgattgtagaaAGATCGAGACCCGACGC chr3:38607282-Alternative-T;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Variant G agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GACAACTCTCTT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgacaactctcttAGATCGAGACCCGACGC chr3:38607282-Variant-G;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Variant G agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GCGAATGCACCT CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgcgaatgcacctAGATCGAGACCCGACGC chr3:38607282-Variant-G;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Variant G agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CGGAGAGCATGA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAcggagagcatgaAGATCGAGACCCGACGC chr3:38607282-Variant-G;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Variant G agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca CGACGACTTCGA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAcgacgacttcgaAGATCGAGACCCGACGC chr3:38607282-Variant-G;Patient-30 chr3:38607282-AG Inherited Patient-30 intronic SCN5A NA 4.95e-05 NA NA NA SCN5A 83881 Variant G agctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctcccca GACGCCAAGTTA CGACGCGGTCTCTCTCTagctacctgatcatctagggcagcaacccagagcccctgagccagtgttcGtggcttcctcctcctctggggtgactccacccctgtctcatcctccccaAGAGGGAGACGGACGTCTCAATAAgacgccaagttaAGATCGAGACCCGACGC chr3:38607282-Variant-G;Patient-30 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Reference C atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GTCAAGAGTTGT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgtcaagagttgtAGATCGAGACCCGACGC chr3:38658290-Reference-C;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative G atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CGGTAACGCTTC CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAcggtaacgcttcAGATCGAGACCCGACGC chr3:38658290-Alternative-G;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative G atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CGACACGGTATC CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAcgacacggtatcAGATCGAGACCCGACGC chr3:38658290-Alternative-G;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative G atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CTTGGTCAACGG CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAActtggtcaacggAGATCGAGACCCGACGC chr3:38658290-Alternative-G;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Reference C atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GTATAGGCCTAC CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgtataggcctacAGATCGAGACCCGACGC chr3:38658290-Reference-C;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Variant T atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GCGAAGCTGGAA CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgcgaagctggaaAGATCGAGACCCGACGC chr3:38658290-Variant-T;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Reference C atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GCATTCTGAACA CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgcattctgaacaAGATCGAGACCCGACGC chr3:38658290-Reference-C;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Variant T atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg AGTTAACGGAGT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAagttaacggagtAGATCGAGACCCGACGC chr3:38658290-Variant-T;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Reference C atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GTGTAGTGACGG CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgtgtagtgacggAGATCGAGACCCGACGC chr3:38658290-Reference-C;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Variant T atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GTGCTCTCAAGG CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgtgctctcaaggAGATCGAGACCCGACGC chr3:38658290-Variant-T;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Reference C atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg ATCTAGCGTTCA CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctCccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAatctagcgttcaAGATCGAGACCCGACGC chr3:38658290-Reference-C;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Variant T atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg ACGTTGAGAGAT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAacgttgagagatAGATCGAGACCCGACGC chr3:38658290-Variant-T;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative A atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CAGTACCTGGAC CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAcagtacctggacAGATCGAGACCCGACGC chr3:38658290-Alternative-A;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative A atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CTCTCTCGTGCT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAActctctcgtgctAGATCGAGACCCGACGC chr3:38658290-Alternative-A;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative G atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg AGCCACGTGGAA CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAagccacgtggaaAGATCGAGACCCGACGC chr3:38658290-Alternative-G;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative A atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CGGCAATTACTA CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAcggcaattactaAGATCGAGACCCGACGC chr3:38658290-Alternative-A;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Variant T atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg GATACTCCTTGT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctTccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAgatactccttgtAGATCGAGACCCGACGC chr3:38658290-Variant-T;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative G atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg AGCCGTACATGG CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctGccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAagccgtacatggAGATCGAGACCCGACGC chr3:38658290-Alternative-G;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative A atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg AATACGAGGTGT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAaatacgaggtgtAGATCGAGACCCGACGC chr3:38658290-Alternative-A;Patient-81 chr3:38658290-CT DeNovo Patient-81 intronic SCN5A NA 9.9e-05 0.15 5.04 -0.9 SCN5A 32873 Alternative A atcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattg CGTCAAGTCAAT CGACGCGGTCTCTCTCTatcctatcccatcaccagccccactgcagggaagccttcttcctgcccctAccttatcttgagatggtgaagcccacgccgttagtgactgcaggaattgAGAGGGAGACGGACGTCTCAATAAcgtcaagtcaatAGATCGAGACCCGACGC chr3:38658290-Alternative-A;Patient-81 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Reference C tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CATATAAGACGG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcatataagacggAGATCGAGACCCGACGC chr3:38673412-Reference-C;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Reference C tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CGTTCCGGCTAA CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcgttccggctaaAGATCGAGACCCGACGC chr3:38673412-Reference-C;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative G tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CAAGATCACGCG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcaagatcacgcgAGATCGAGACCCGACGC chr3:38673412-Alternative-G;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Variant A tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GGAAGTACTCTA CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAggaagtactctaAGATCGAGACCCGACGC chr3:38673412-Variant-A;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative T tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca ACGTGCTCGCTT CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAacgtgctcgcttAGATCGAGACCCGACGC chr3:38673412-Alternative-T;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative G tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CTGAGAACGGAC CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAActgagaacggacAGATCGAGACCCGACGC chr3:38673412-Alternative-G;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative G tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CGTTACTATACG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcgttactatacgAGATCGAGACCCGACGC chr3:38673412-Alternative-G;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Variant A tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca ATCGATTGATGG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAatcgattgatggAGATCGAGACCCGACGC chr3:38673412-Variant-A;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Variant A tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca AGTGACATGCGC CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAagtgacatgcgcAGATCGAGACCCGACGC chr3:38673412-Variant-A;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative G tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GTATACTCATGG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAgtatactcatggAGATCGAGACCCGACGC chr3:38673412-Alternative-G;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Variant A tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GATCGGATTCAA CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAgatcggattcaaAGATCGAGACCCGACGC chr3:38673412-Variant-A;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Variant A tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GTAACGGACTAT CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaAaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAgtaacggactatAGATCGAGACCCGACGC chr3:38673412-Variant-A;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative T tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CTATGTCCTACG CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAActatgtcctacgAGATCGAGACCCGACGC chr3:38673412-Alternative-T;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative T tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CGGTAGATGTGC CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcggtagatgtgcAGATCGAGACCCGACGC chr3:38673412-Alternative-T;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative G tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GTCGCTCCAGTT CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaGaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAgtcgctccagttAGATCGAGACCCGACGC chr3:38673412-Alternative-G;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Reference C tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CAGCTTCGTATT CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcagcttcgtattAGATCGAGACCCGACGC chr3:38673412-Reference-C;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative T tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca CAAGTAGTGCTA CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAcaagtagtgctaAGATCGAGACCCGACGC chr3:38673412-Alternative-T;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Alternative T tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca ACGCCTACATTC CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaTaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAacgcctacattcAGATCGAGACCCGACGC chr3:38673412-Alternative-T;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Reference C tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca AGTAGGATAGTC CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAagtaggatagtcAGATCGAGACCCGACGC chr3:38673412-Reference-C;Patient-30 chr3:38673412-CA Inherited Patient-30 intronic SCN5A 0.00035 9.9e-05 NA NA NA SCN5A 17751 Reference C tcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggccca GTACGCGAGTCT CGACGCGGTCTCTCTCTtcctcccccacctgtttatgtggactgggtgggcttttacttcacatgcaCaaccactcacgtatccaatgcatgcatgcacacccaaagacacggcccaAGAGGGAGACGGACGTCTCAATAAgtacgcgagtctAGATCGAGACCCGACGC chr3:38673412-Reference-C;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Reference C cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GATCACGCATTC CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgatcacgcattcAGATCGAGACCCGACGC chr3:38886143-Reference-C;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Variant A cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca AACGTTGCTTCT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAaacgttgcttctAGATCGAGACCCGACGC chr3:38886143-Variant-A;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Variant A cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GCCGACATCAAT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgccgacatcaatAGATCGAGACCCGACGC chr3:38886143-Variant-A;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Variant A cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca AATCATGTGGAG CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAaatcatgtggagAGATCGAGACCCGACGC chr3:38886143-Variant-A;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Variant A cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca CAACTCGCAAGA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAcaactcgcaagaAGATCGAGACCCGACGC chr3:38886143-Variant-A;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Variant A cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GACCTGGTAGAT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatAatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgacctggtagatAGATCGAGACCCGACGC chr3:38886143-Variant-A;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative T cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GAGTTAATCGCG CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgagttaatcgcgAGATCGAGACCCGACGC chr3:38886143-Alternative-T;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative T cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca CGGTCGTAATTA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAcggtcgtaattaAGATCGAGACCCGACGC chr3:38886143-Alternative-T;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative T cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca ACCGGCGATTGA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAaccggcgattgaAGATCGAGACCCGACGC chr3:38886143-Alternative-T;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative T cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GCATGTCGATAT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgcatgtcgatatAGATCGAGACCCGACGC chr3:38886143-Alternative-T;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative T cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GTCGATTGGACG CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatTatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgtcgattggacgAGATCGAGACCCGACGC chr3:38886143-Alternative-T;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative G cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca CTTAACTGGTCT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAActtaactggtctAGATCGAGACCCGACGC chr3:38886143-Alternative-G;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative G cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca AGGTGAGGTTAT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAaggtgaggttatAGATCGAGACCCGACGC chr3:38886143-Alternative-G;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative G cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca GCGATCGTAATT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAgcgatcgtaattAGATCGAGACCCGACGC chr3:38886143-Alternative-G;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative G cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca ATAAGCAGTCGA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAataagcagtcgaAGATCGAGACCCGACGC chr3:38886143-Alternative-G;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Alternative G cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca AGATCGATTGGT CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatGatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAagatcgattggtAGATCGAGACCCGACGC chr3:38886143-Alternative-G;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Reference C cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca AAGTGCCTCATA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAaagtgcctcataAGATCGAGACCCGACGC chr3:38886143-Reference-C;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Reference C cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca CGCCGGCATTAA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAcgccggcattaaAGATCGAGACCCGACGC chr3:38886143-Reference-C;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Reference C cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca ACGAAGTCATGA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAacgaagtcatgaAGATCGAGACCCGACGC chr3:38886143-Reference-C;Patient-30 chr3:38886143-CA Inherited Patient-30 intergenic 0.000414 0.00154 NA NA NA SCN10A 50641 Reference C cccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtca CGCATTGGCGAA CGACGCGGTCTCTCTCTcccatctcaaagcttccctggtcctgagcccacccacttccccttcccatCatggcacacaggctcgggctccaccaggtgcatgactgtatgcaggtcaAGAGGGAGACGGACGTCTCAATAAcgcattggcgaaAGATCGAGACCCGACGC chr3:38886143-Reference-C;Patient-30 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative A ccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca AGAATGCAAGTC CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAagaatgcaagtcAGATCGAGACCCGACGC chr3:41185733-Alternative-A;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative A ccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GGTTAGGCTTCG CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAggttaggcttcgAGATCGAGACCCGACGC chr3:41185733-Alternative-A;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative A ccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CGGCGAAGTAAG CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAcggcgaagtaagAGATCGAGACCCGACGC chr3:41185733-Alternative-A;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative A ccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CACATAATCCGT CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAcacataatccgtAGATCGAGACCCGACGC chr3:41185733-Alternative-A;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative G ccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CGATCACACGAG CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAcgatcacacgagAGATCGAGACCCGACGC chr3:41185733-Alternative-G;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Reference C ccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GCCTTACACCGA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgccttacaccgaAGATCGAGACCCGACGC chr3:41185733-Reference-C;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Reference C ccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca ACAGATGGCGAC CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAacagatggcgacAGATCGAGACCCGACGC chr3:41185733-Reference-C;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Reference C ccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GACTAAGAGCAT CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgactaagagcatAGATCGAGACCCGACGC chr3:41185733-Reference-C;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative G ccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GCCTTAGCTATA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgccttagctataAGATCGAGACCCGACGC chr3:41185733-Alternative-G;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative G ccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CGTTGTGCGGAA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAcgttgtgcggaaAGATCGAGACCCGACGC chr3:41185733-Alternative-G;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative A ccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CAGAGGCGTACT CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatAcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAcagaggcgtactAGATCGAGACCCGACGC chr3:41185733-Alternative-A;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Reference C ccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca AGCTATACGGAA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAagctatacggaaAGATCGAGACCCGACGC chr3:41185733-Reference-C;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Reference C ccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CTCAAGCTACCA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatCcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAActcaagctaccaAGATCGAGACCCGACGC chr3:41185733-Reference-C;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative G ccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GTATCAGCACCA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgtatcagcaccaAGATCGAGACCCGACGC chr3:41185733-Alternative-G;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Variant T ccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca ACTCTGAGCGAG CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAactctgagcgagAGATCGAGACCCGACGC chr3:41185733-Variant-T;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Variant T ccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca CTGCGAATGCAC CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAActgcgaatgcacAGATCGAGACCCGACGC chr3:41185733-Variant-T;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Alternative G ccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GTTCACCATGAA CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatGcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgttcaccatgaaAGATCGAGACCCGACGC chr3:41185733-Alternative-G;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Variant T ccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca AGTTAACTACGC CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAagttaactacgcAGATCGAGACCCGACGC chr3:41185733-Variant-T;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Variant T ccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GTGACGGTGAAC CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgtgacggtgaacAGATCGAGACCCGACGC chr3:41185733-Variant-T;Patient-105 chr3:41185733-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.36 8 1.17 CTNNB1 55208 Variant T ccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcaca GCGCGTATGAGT CGACGCGGTCTCTCTCTccctggacatctacacccagtggtttctccccctatgccaccccacccatTcctgaactcagggaccacagcctgtgctgctcacatgccactgatcacaAGAGGGAGACGGACGTCTCAATAAgcgcgtatgagtAGATCGAGACCCGACGC chr3:41185733-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Variant T ctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata AGATCGGTTCGC CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAagatcggttcgcAGATCGAGACCCGACGC chr3:41185735-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Variant T ctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GAATGACCTGTT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAgaatgacctgttAGATCGAGACCCGACGC chr3:41185735-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative A ctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata ACCGCCACATAA CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAaccgccacataaAGATCGAGACCCGACGC chr3:41185735-Alternative-A;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Variant T ctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGTCAGTTCCGT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcgtcagttccgtAGATCGAGACCCGACGC chr3:41185735-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative A ctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GATCGAGCGTAC CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAgatcgagcgtacAGATCGAGACCCGACGC chr3:41185735-Alternative-A;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative A ctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGTTCGTCCAAC CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcgttcgtccaacAGATCGAGACCCGACGC chr3:41185735-Alternative-A;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Variant T ctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata ACGACATACCAC CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAacgacataccacAGATCGAGACCCGACGC chr3:41185735-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Variant T ctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata ATCTGCGCAGCT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccTtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAatctgcgcagctAGATCGAGACCCGACGC chr3:41185735-Variant-T;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative A ctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GATAAGACGACT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAgataagacgactAGATCGAGACCCGACGC chr3:41185735-Alternative-A;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative G ctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CTCAATGTCACT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAActcaatgtcactAGATCGAGACCCGACGC chr3:41185735-Alternative-G;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative G ctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGAATCTCCGAA CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcgaatctccgaaAGATCGAGACCCGACGC chr3:41185735-Alternative-G;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative G ctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata AACCATGCGTCG CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAaaccatgcgtcgAGATCGAGACCCGACGC chr3:41185735-Alternative-G;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative G ctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GAGATCCTCGAC CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAgagatcctcgacAGATCGAGACCCGACGC chr3:41185735-Alternative-G;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative A ctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGGACCTTAGGT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccAtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcggaccttaggtAGATCGAGACCCGACGC chr3:41185735-Alternative-A;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Alternative G ctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata ACTATCCTGGAA CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccGtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAactatcctggaaAGATCGAGACCCGACGC chr3:41185735-Alternative-G;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Reference C ctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGGATCCATAGT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcggatccatagtAGATCGAGACCCGACGC chr3:41185735-Reference-C;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Reference C ctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata CGAACTAGTCAT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAcgaactagtcatAGATCGAGACCCGACGC chr3:41185735-Reference-C;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Reference C ctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GCGACTACTCGA CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAgcgactactcgaAGATCGAGACCCGACGC chr3:41185735-Reference-C;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Reference C ctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GGACCGCTCAAT CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAggaccgctcaatAGATCGAGACCCGACGC chr3:41185735-Reference-C;Patient-105 chr3:41185735-CT DeNovo Patient-105 intergenic 0.000223 3.85e-05 0.63 10.54 2.99 CTNNB1 55206 Reference C ctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacata GGCTTGTTATCA CGACGCGGTCTCTCTCTctggacatctacacccagtggtttctccccctatgccaccccacccatccCtgaactcagggaccacagcctgtgctgctcacatgccactgatcacataAGAGGGAGACGGACGTCTCAATAAggcttgttatcaAGATCGAGACCCGACGC chr3:41185735-Reference-C;Patient-105 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative C aacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CGAAGAATCGTT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAcgaagaatcgttAGATCGAGACCCGACGC chr3:41919693-Alternative-C;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Variant A aacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CTCTCTTAGTAC CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAActctcttagtacAGATCGAGACCCGACGC chr3:41919693-Variant-A;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative T aacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag GATCGTCCATAA CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAgatcgtccataaAGATCGAGACCCGACGC chr3:41919693-Alternative-T;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Variant A aacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CATCGGACTACG CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAcatcggactacgAGATCGAGACCCGACGC chr3:41919693-Variant-A;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative C aacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag AACAAGGAACAG CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAaacaaggaacagAGATCGAGACCCGACGC chr3:41919693-Alternative-C;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Variant A aacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag GTATACGTGCAT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAgtatacgtgcatAGATCGAGACCCGACGC chr3:41919693-Variant-A;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Variant A aacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag ACTTAAGACCGC CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAacttaagaccgcAGATCGAGACCCGACGC chr3:41919693-Variant-A;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Variant A aacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CGTCTGGTTGCT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccAaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAcgtctggttgctAGATCGAGACCCGACGC chr3:41919693-Variant-A;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative C aacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CAGTTCGAGTAT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAcagttcgagtatAGATCGAGACCCGACGC chr3:41919693-Alternative-C;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Reference G aacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag ACTATGAGGCGG CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAactatgaggcggAGATCGAGACCCGACGC chr3:41919693-Reference-G;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative C aacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CTACGTCGCATC CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAActacgtcgcatcAGATCGAGACCCGACGC chr3:41919693-Alternative-C;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative C aacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CTTGGATGGTAT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccCaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAActtggatggtatAGATCGAGACCCGACGC chr3:41919693-Alternative-C;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative T aacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag GGCCGCTATGAA CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAggccgctatgaaAGATCGAGACCCGACGC chr3:41919693-Alternative-T;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Reference G aacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CGTAGACCACAG CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAcgtagaccacagAGATCGAGACCCGACGC chr3:41919693-Reference-G;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Reference G aacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag GGTAGTTACAAC CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAggtagttacaacAGATCGAGACCCGACGC chr3:41919693-Reference-G;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative T aacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag AACCGTGGACCT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAaaccgtggacctAGATCGAGACCCGACGC chr3:41919693-Alternative-T;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Reference G aacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CTTGAAGCTTCT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAActtgaagcttctAGATCGAGACCCGACGC chr3:41919693-Reference-G;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Reference G aacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag GGACGTACGTAA CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccGaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAggacgtacgtaaAGATCGAGACCCGACGC chr3:41919693-Reference-G;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative T aacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag CTGGCGAAGACT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAActggcgaagactAGATCGAGACCCGACGC chr3:41919693-Alternative-T;Patient-56 chr3:41919693-GA DeNovo Patient-56 intronic ULK4 NA 4.95e-05 -0.35 0.25 -2.88 ULK4 83966 Alternative T aacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagag AGGAGATCGAAT CGACGCGGTCTCTCTCTaacaagattccttatagaagtggtttcaaaactaggggttgactattcccTaaacaagcctatgaaagctcactgccgagaagccagcaagctgtcagagAGAGGGAGACGGACGTCTCAATAAaggagatcgaatAGATCGAGACCCGACGC chr3:41919693-Alternative-T;Patient-56 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative T ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GTTAATAGCGCA CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgttaatagcgcaAGATCGAGACCCGACGC chr3:41934759-Alternative-T;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative C ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GATGCAACCTTA CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgatgcaaccttaAGATCGAGACCCGACGC chr3:41934759-Alternative-C;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Reference A ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GACATGGCTTAT CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgacatggcttatAGATCGAGACCCGACGC chr3:41934759-Reference-A;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative C ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaaca ATCGCGTTGCGA CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAatcgcgttgcgaAGATCGAGACCCGACGC chr3:41934759-Alternative-C;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative T ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaaca ACTTAAGTGCCG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAacttaagtgccgAGATCGAGACCCGACGC chr3:41934759-Alternative-T;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Reference A ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CGGAGGTACATC CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAcggaggtacatcAGATCGAGACCCGACGC chr3:41934759-Reference-A;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative C ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaaca ATTGAGTGATCG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAattgagtgatcgAGATCGAGACCCGACGC chr3:41934759-Alternative-C;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Variant G ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaaca ATCGTCAGTAAG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAatcgtcagtaagAGATCGAGACCCGACGC chr3:41934759-Variant-G;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Reference A ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GTCTACGGCAGT CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgtctacggcagtAGATCGAGACCCGACGC chr3:41934759-Reference-A;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative T ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GACCTCGAAGCT CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgacctcgaagctAGATCGAGACCCGACGC chr3:41934759-Alternative-T;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Reference A ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CTGAACGGACAG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAActgaacggacagAGATCGAGACCCGACGC chr3:41934759-Reference-A;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Reference A ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GCGACTTCAACG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataAaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgcgacttcaacgAGATCGAGACCCGACGC chr3:41934759-Reference-A;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Variant G ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CTTAGACTGGCG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAActtagactggcgAGATCGAGACCCGACGC chr3:41934759-Variant-G;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative T ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GTTGGAACGGAC CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgttggaacggacAGATCGAGACCCGACGC chr3:41934759-Alternative-T;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative T ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GACGGTAGTATC CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataTaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgacggtagtatcAGATCGAGACCCGACGC chr3:41934759-Alternative-T;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Variant G ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaaca GACCTTATGGAT CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAgaccttatggatAGATCGAGACCCGACGC chr3:41934759-Variant-G;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Variant G ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CTCTAATCTGGT CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAActctaatctggtAGATCGAGACCCGACGC chr3:41934759-Variant-G;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative C ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CTCAAGGCTCGA CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAActcaaggctcgaAGATCGAGACCCGACGC chr3:41934759-Alternative-C;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Alternative C ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaaca AAGGTTATGTGG CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataCaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAaaggttatgtggAGATCGAGACCCGACGC chr3:41934759-Alternative-C;Patient-55 chr3:41934759-AG Inherited Patient-55 intronic ULK4 NA 4.95e-05 0.26 6.73 -0.2 ULK4 68900 Variant G ggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaaca CAGCGATCCTGA CGACGCGGTCTCTCTCTggtgatggttatacaacaatgagaatgaactaaatgccattatatacataGaaatggctaaaatggaatattttaaattatgcataatttacaattaacaAGAGGGAGACGGACGTCTCAATAAcagcgatcctgaAGATCGAGACCCGACGC chr3:41934759-Variant-G;Patient-55 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Variant T cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CGAGTATCAGCT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAcgagtatcagctAGATCGAGACCCGACGC chr3:42506716-Variant-T;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Reference A cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CGCGTTATTCAA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAcgcgttattcaaAGATCGAGACCCGACGC chr3:42506716-Reference-A;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative C cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AGGTACGCTATT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAaggtacgctattAGATCGAGACCCGACGC chr3:42506716-Alternative-C;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative C cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AGCGCTAATCGG CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAagcgctaatcggAGATCGAGACCCGACGC chr3:42506716-Alternative-C;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative G cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CAGTAACCTACA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAcagtaacctacaAGATCGAGACCCGACGC chr3:42506716-Alternative-G;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative C cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc ACAGGATCTTGT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAacaggatcttgtAGATCGAGACCCGACGC chr3:42506716-Alternative-C;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative C cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AGCCGCTCCAAT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAagccgctccaatAGATCGAGACCCGACGC chr3:42506716-Alternative-C;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Variant T cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AGGAGTAGCTTA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAaggagtagcttaAGATCGAGACCCGACGC chr3:42506716-Variant-T;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Variant T cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc ATATGACCGCGA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAatatgaccgcgaAGATCGAGACCCGACGC chr3:42506716-Variant-T;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Reference A cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc GGACTCGGATGA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAggactcggatgaAGATCGAGACCCGACGC chr3:42506716-Reference-A;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Variant T cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc GCGTAGTCATAT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAgcgtagtcatatAGATCGAGACCCGACGC chr3:42506716-Variant-T;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative G cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc GGAGGACATTCG CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAggaggacattcgAGATCGAGACCCGACGC chr3:42506716-Alternative-G;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative C cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CATGTCGTTGTT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggCttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAcatgtcgttgttAGATCGAGACCCGACGC chr3:42506716-Alternative-C;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative G cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AACCGCATAAGA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAaaccgcataagaAGATCGAGACCCGACGC chr3:42506716-Alternative-G;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative G cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc AGGCGTAAGGCA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAaggcgtaaggcaAGATCGAGACCCGACGC chr3:42506716-Alternative-G;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Alternative G cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc GGTGTCTCGTCT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggGttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAggtgtctcgtctAGATCGAGACCCGACGC chr3:42506716-Alternative-G;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Reference A cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc ATTAAGGTGCGA CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAattaaggtgcgaAGATCGAGACCCGACGC chr3:42506716-Reference-A;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Reference A cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc GCCAATTGCCAT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAgccaattgccatAGATCGAGACCCGACGC chr3:42506716-Reference-A;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Variant T cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CTTGATATACGC CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggTttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAActtgatatacgcAGATCGAGACCCGACGC chr3:42506716-Variant-T;Patient-78 chr3:42506716-AT DeNovo Patient-78 intergenic NA 0.000513 -0.03 2.26 0.15 VIPR1 24074 Reference A cagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaacc CACGTTGTAGAT CGACGCGGTCTCTCTCTcagtggctcatgcctgtaatcccagcacgttgggaggccagagcaagtggAttgcttgaggccaggagttcaataccagtatggccaacatggtgaaaccAGAGGGAGACGGACGTCTCAATAAcacgttgtagatAGATCGAGACCCGACGC chr3:42506716-Reference-A;Patient-78 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Reference A ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GCGGAGAGTATC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAgcggagagtatcAGATCGAGACCCGACGC chr3:45074781-Reference-A;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative T ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CGATGTTACGGC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcgatgttacggcAGATCGAGACCCGACGC chr3:45074781-Alternative-T;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Reference A ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct ACGTCTTGAGCG CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAacgtcttgagcgAGATCGAGACCCGACGC chr3:45074781-Reference-A;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative T ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GGATACGGCCTT CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAggatacggccttAGATCGAGACCCGACGC chr3:45074781-Alternative-T;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Reference A ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GGCGAGCGTAAT CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAggcgagcgtaatAGATCGAGACCCGACGC chr3:45074781-Reference-A;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative T ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CAACAAGCTATC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcaacaagctatcAGATCGAGACCCGACGC chr3:45074781-Alternative-T;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative C ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CGAACTCTACTT CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcgaactctacttAGATCGAGACCCGACGC chr3:45074781-Alternative-C;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Variant G ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct ACGCTCTAGTGG CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAacgctctagtggAGATCGAGACCCGACGC chr3:45074781-Variant-G;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative T ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CAGACGACATGG CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcagacgacatggAGATCGAGACCCGACGC chr3:45074781-Alternative-T;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Variant G ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct AGCCAACCGAGA CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAagccaaccgagaAGATCGAGACCCGACGC chr3:45074781-Variant-G;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Variant G ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CACAATCCGTGC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcacaatccgtgcAGATCGAGACCCGACGC chr3:45074781-Variant-G;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Variant G ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CACGAACCGAAT CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcacgaaccgaatAGATCGAGACCCGACGC chr3:45074781-Variant-G;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Reference A ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CTACACCAACGC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAActacaccaacgcAGATCGAGACCCGACGC chr3:45074781-Reference-A;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Variant G ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GTTACCGGTTAT CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatGtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAgttaccggttatAGATCGAGACCCGACGC chr3:45074781-Variant-G;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative T ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GTAACCTGGAAC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatTtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAgtaacctggaacAGATCGAGACCCGACGC chr3:45074781-Alternative-T;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Reference A ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct CGTGACTATCAA CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatAtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAcgtgactatcaaAGATCGAGACCCGACGC chr3:45074781-Reference-A;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative C ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GTTACTGGCGAC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAgttactggcgacAGATCGAGACCCGACGC chr3:45074781-Alternative-C;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative C ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct GGATAGTCGGAC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAggatagtcggacAGATCGAGACCCGACGC chr3:45074781-Alternative-C;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative C ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct ACGTGGAACACG CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAacgtggaacacgAGATCGAGACCCGACGC chr3:45074781-Alternative-C;Patient-72 chr3:45074781-AG DeNovo Patient-72 intronic CLEC3B NA 9.9e-05 -0.16 0.96 -2.17 CLEC3B 7021 Alternative C ctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttct AGATTCCGAATC CGACGCGGTCTCTCTCTctggggtgaggtaatgaggtggggacctccctgaaaaaagttcatgacatCtggaggcccaaagcatgacatatgaaagcccccatgtctgctgatttctAGAGGGAGACGGACGTCTCAATAAagattccgaatcAGATCGAGACCCGACGC chr3:45074781-Alternative-C;Patient-72 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative A ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GTGACGTATAGA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgtgacgtatagaAGATCGAGACCCGACGC chr3:45204568-Alternative-A;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Reference C ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg ACGCACTACACG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAacgcactacacgAGATCGAGACCCGACGC chr3:45204568-Reference-C;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative A ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GTCAACATCGGT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgtcaacatcggtAGATCGAGACCCGACGC chr3:45204568-Alternative-A;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Reference C ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GTCGCGTTGCAT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgtcgcgttgcatAGATCGAGACCCGACGC chr3:45204568-Reference-C;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative A ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GTTGACGATAAG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgttgacgataagAGATCGAGACCCGACGC chr3:45204568-Alternative-A;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative A ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GATCCAACACAG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgatccaacacagAGATCGAGACCCGACGC chr3:45204568-Alternative-A;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Reference C ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CGACGAAGCAAG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAcgacgaagcaagAGATCGAGACCCGACGC chr3:45204568-Reference-C;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Reference C ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg ATAGAGGCAGTT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAatagaggcagttAGATCGAGACCCGACGC chr3:45204568-Reference-C;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Reference C ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CTTGATCATTCG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcCgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAActtgatcattcgAGATCGAGACCCGACGC chr3:45204568-Reference-C;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative A ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg ACCGTAGATCAA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcAgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAaccgtagatcaaAGATCGAGACCCGACGC chr3:45204568-Alternative-A;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Variant T ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg AAGACGGCACGT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAaagacggcacgtAGATCGAGACCCGACGC chr3:45204568-Variant-T;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Variant T ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GATGGCTAATCA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgatggctaatcaAGATCGAGACCCGACGC chr3:45204568-Variant-T;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative G ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GCGATATCCAAG CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgcgatatccaagAGATCGAGACCCGACGC chr3:45204568-Alternative-G;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Variant T ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CAGATACCAAGT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAcagataccaagtAGATCGAGACCCGACGC chr3:45204568-Variant-T;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative G ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CTAAGACCTACA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAActaagacctacaAGATCGAGACCCGACGC chr3:45204568-Alternative-G;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative G ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CAGGCGATCCAA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAcaggcgatccaaAGATCGAGACCCGACGC chr3:45204568-Alternative-G;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Variant T ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GAGCACGACCAT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgagcacgaccatAGATCGAGACCCGACGC chr3:45204568-Variant-T;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative G ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg GAGTTACTGGTT CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAgagttactggttAGATCGAGACCCGACGC chr3:45204568-Alternative-G;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Variant T ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg CATAGCCGGTTA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcTgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAcatagccggttaAGATCGAGACCCGACGC chr3:45204568-Variant-T;Patient-39 chr3:45204568-CT DeNovo Patient-39 intergenic 3.2e-05 0.000513 -0.38 0.21 -0.32 CDCP1 16653 Alternative G ccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctgg AATGGTACGAGA CGACGCGGTCTCTCTCTccaggctggagtgcagtggtgtgatcttgatctcagctcactgtcacctcGgcctcctgggctcaagcgattctccagccttagcctcccaaatagctggAGAGGGAGACGGACGTCTCAATAAaatggtacgagaAGATCGAGACCCGACGC chr3:45204568-Alternative-G;Patient-39 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative A agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac ACCGCCAATAAC CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAaccgccaataacAGATCGAGACCCGACGC chr3:4529306-Alternative-A;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative G agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GTTAACCGCCAC CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAgttaaccgccacAGATCGAGACCCGACGC chr3:4529306-Alternative-G;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Reference T agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GCGATGTAACTT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAgcgatgtaacttAGATCGAGACCCGACGC chr3:4529306-Reference-T;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative A agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac AGTATCCAGGAC CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAagtatccaggacAGATCGAGACCCGACGC chr3:4529306-Alternative-A;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative A agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CGAGTTCCACGT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAcgagttccacgtAGATCGAGACCCGACGC chr3:4529306-Alternative-A;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative G agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CTCGTCAATACT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAActcgtcaatactAGATCGAGACCCGACGC chr3:4529306-Alternative-G;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Variant C agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GGAGATACTACG CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAggagatactacgAGATCGAGACCCGACGC chr3:4529306-Variant-C;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Variant C agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CATATTGACACG CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAcatattgacacgAGATCGAGACCCGACGC chr3:4529306-Variant-C;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative A agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac ACTCCTATGCTA CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAactcctatgctaAGATCGAGACCCGACGC chr3:4529306-Alternative-A;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Variant C agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CTGGTTCGCCAA CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAActggttcgccaaAGATCGAGACCCGACGC chr3:4529306-Variant-C;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Variant C agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GAGTCACCGCAA CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAgagtcaccgcaaAGATCGAGACCCGACGC chr3:4529306-Variant-C;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Reference T agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GGAGAAGCGGAA CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAggagaagcggaaAGATCGAGACCCGACGC chr3:4529306-Reference-T;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Variant C agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CTGCTACCTGGT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataCgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAActgctacctggtAGATCGAGACCCGACGC chr3:4529306-Variant-C;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Reference T agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GGATAGCGGCTA CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAggatagcggctaAGATCGAGACCCGACGC chr3:4529306-Reference-T;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Reference T agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac CGAGCACATAGT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAcgagcacatagtAGATCGAGACCCGACGC chr3:4529306-Reference-T;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative G agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac AACACTTCTCGT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAaacacttctcgtAGATCGAGACCCGACGC chr3:4529306-Alternative-G;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative A agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GGAACTTCATAC CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataAgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAggaacttcatacAGATCGAGACCCGACGC chr3:4529306-Alternative-A;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative G agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GTTCGATTGCGG CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAgttcgattgcggAGATCGAGACCCGACGC chr3:4529306-Alternative-G;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Alternative G agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GCAAGTAAGGTT CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataGgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAgcaagtaaggttAGATCGAGACCCGACGC chr3:4529306-Alternative-G;Patient-38 chr3:4529306-TC DeNovo Patient-38 intergenic NA 0.000512821 0.38 8.12 2.12 ITPR1 5725 Reference T agaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcac GGCAATACGAAG CGACGCGGTCTCTCTCTagaacatttcatatgtgatgttgtgtacttcttatagaatcatatacataTgtaaatagtgtctagttgtcccagtattgctggtaataaatttgatcacAGAGGGAGACGGACGTCTCAATAAggcaatacgaagAGATCGAGACCCGACGC chr3:4529306-Reference-T;Patient-38 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Variant G gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GCGTGGAATGCA CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgcgtggaatgcaAGATCGAGACCCGACGC chr3:45856600-Variant-G;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Variant G gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GTCAATTACGGT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgtcaattacggtAGATCGAGACCCGACGC chr3:45856600-Variant-G;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative T gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaac CTTGTTCATGGT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAActtgttcatggtAGATCGAGACCCGACGC chr3:45856600-Alternative-T;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Variant G gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaac ACTATGTCGGCG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAactatgtcggcgAGATCGAGACCCGACGC chr3:45856600-Variant-G;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Variant G gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaac ACCTCGTCAGCT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAacctcgtcagctAGATCGAGACCCGACGC chr3:45856600-Variant-G;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Variant G gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaac AGATAGACGACT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcGtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAagatagacgactAGATCGAGACCCGACGC chr3:45856600-Variant-G;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative T gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaac AGATACGGCAAG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAagatacggcaagAGATCGAGACCCGACGC chr3:45856600-Alternative-T;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative T gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GATGGCTAACCT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgatggctaacctAGATCGAGACCCGACGC chr3:45856600-Alternative-T;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative T gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GGCAGTATGACG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAggcagtatgacgAGATCGAGACCCGACGC chr3:45856600-Alternative-T;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Reference A gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GTGCGGCTAGTT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgtgcggctagttAGATCGAGACCCGACGC chr3:45856600-Reference-A;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative T gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaac ACCATGAGGTGG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcTtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAaccatgaggtggAGATCGAGACCCGACGC chr3:45856600-Alternative-T;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative C gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GACCTATGGTTC CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgacctatggttcAGATCGAGACCCGACGC chr3:45856600-Alternative-C;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative C gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaac ATTGCACCACCG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAattgcaccaccgAGATCGAGACCCGACGC chr3:45856600-Alternative-C;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative C gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaac AGCGTGATGACC CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAagcgtgatgaccAGATCGAGACCCGACGC chr3:45856600-Alternative-C;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative C gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GAGTGTACTTGT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgagtgtacttgtAGATCGAGACCCGACGC chr3:45856600-Alternative-C;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Reference A gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaac CTCATGTTGCGG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAActcatgttgcggAGATCGAGACCCGACGC chr3:45856600-Reference-A;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Reference A gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaac AGCGCATCAAGT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAagcgcatcaagtAGATCGAGACCCGACGC chr3:45856600-Reference-A;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Reference A gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaac CAACTCACAAGG CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAcaactcacaaggAGATCGAGACCCGACGC chr3:45856600-Reference-A;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Alternative C gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaac CTCGGTACCTAC CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcCtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAActcggtacctacAGATCGAGACCCGACGC chr3:45856600-Alternative-C;Patient-80 chr3:45856600-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.04 3.18 0.34 CCR9 71395 Reference A gggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaac GATTCGGCACGT CGACGCGGTCTCTCTCTgggcctgcattgccaagacaatcctaagccaaaagaacaaagctgagcgcAtcacactacctgacttcaaactacactacaaggctatagtaaccagaacAGAGGGAGACGGACGTCTCAATAAgattcggcacgtAGATCGAGACCCGACGC chr3:45856600-Reference-A;Patient-80 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Reference A ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat ACTCCTATCACG CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAactcctatcacgAGATCGAGACCCGACGC chr3:45896861-Reference-A;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative C ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AGTCGAACAGAT CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAagtcgaacagatAGATCGAGACCCGACGC chr3:45896861-Alternative-C;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative C ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AACGAACCGTGC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAaacgaaccgtgcAGATCGAGACCCGACGC chr3:45896861-Alternative-C;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Variant T ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat CTTGATGGCTAA CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAActtgatggctaaAGATCGAGACCCGACGC chr3:45896861-Variant-T;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Reference A ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat ACTAGCGGCAAT CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAactagcggcaatAGATCGAGACCCGACGC chr3:45896861-Reference-A;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Variant T ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GGACGCTAACAT CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAggacgctaacatAGATCGAGACCCGACGC chr3:45896861-Variant-T;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Variant T ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AACCGGACTGAC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAaaccggactgacAGATCGAGACCCGACGC chr3:45896861-Variant-T;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Reference A ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GCGCCTAAGACA CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAgcgcctaagacaAGATCGAGACCCGACGC chr3:45896861-Reference-A;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Variant T ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AGATACGGTAGG CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAagatacggtaggAGATCGAGACCCGACGC chr3:45896861-Variant-T;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Reference A ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GAGAGCGTTGAC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAgagagcgttgacAGATCGAGACCCGACGC chr3:45896861-Reference-A;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Reference A ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GCCAGGTAATTA CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcAtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAgccaggtaattaAGATCGAGACCCGACGC chr3:45896861-Reference-A;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative C ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AGCCTTACGTGG CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAagccttacgtggAGATCGAGACCCGACGC chr3:45896861-Alternative-C;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative C ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AAGATCACCATC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAaagatcaccatcAGATCGAGACCCGACGC chr3:45896861-Alternative-C;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative C ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat ATAAGGCCGGCA CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcCtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAataaggccggcaAGATCGAGACCCGACGC chr3:45896861-Alternative-C;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative G ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GCGTTGGTTGTC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAgcgttggttgtcAGATCGAGACCCGACGC chr3:45896861-Alternative-G;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative G ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat GTTAACGTTCCT CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAgttaacgttcctAGATCGAGACCCGACGC chr3:45896861-Alternative-G;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative G ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AACTATGGACGC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAaactatggacgcAGATCGAGACCCGACGC chr3:45896861-Alternative-G;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative G ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat AGCATAGTGAAC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAAagcatagtgaacAGATCGAGACCCGACGC chr3:45896861-Alternative-G;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Alternative G ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat CTCTCGATACTT CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcGtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAActctcgatacttAGATCGAGACCCGACGC chr3:45896861-Alternative-G;Patient-32 chr3:45896861-AT DeNovo Patient-32 intronic LZTFL1 0.000127 0.000314 -0.07 1.72 0.23 CCR9 31134 Variant T ttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaat CTCGGATTGCAC CGACGCGGTCTCTCTCTttatctcaatagaggcggaaaaggccttcaataaaattcaacatctcttcTtgttaaaaactctcaataaactaggtattgatggaatgtacctcaaaatAGAGGGAGACGGACGTCTCAATAActcggattgcacAGATCGAGACCCGACGC chr3:45896861-Variant-T;Patient-32 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative G aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ACAGGACCTATT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAacaggacctattAGATCGAGACCCGACGC chr3:45953500-Alternative-G;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative G aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GGAAGACATTCT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAggaagacattctAGATCGAGACCCGACGC chr3:45953500-Alternative-G;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative G aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag AGCCGGTATTGC CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAagccggtattgcAGATCGAGACCCGACGC chr3:45953500-Alternative-G;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Variant T aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ATCCTGGCCGAT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAatcctggccgatAGATCGAGACCCGACGC chr3:45953500-Variant-T;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Variant T aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GTTGAGAAGCTT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgttgagaagcttAGATCGAGACCCGACGC chr3:45953500-Variant-T;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative G aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GAAGTGGCGCTA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgaagtggcgctaAGATCGAGACCCGACGC chr3:45953500-Alternative-G;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative G aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ACAAGCGCTGAC CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaGcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAacaagcgctgacAGATCGAGACCCGACGC chr3:45953500-Alternative-G;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Variant T aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GCGTGTTGCGAA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgcgtgttgcgaaAGATCGAGACCCGACGC chr3:45953500-Variant-T;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative A aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GTCGAGCGTACT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgtcgagcgtactAGATCGAGACCCGACGC chr3:45953500-Alternative-A;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Reference C aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GAATTGGCGTGA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgaattggcgtgaAGATCGAGACCCGACGC chr3:45953500-Reference-C;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Variant T aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag AAGAACCGCCGA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAaagaaccgccgaAGATCGAGACCCGACGC chr3:45953500-Variant-T;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative A aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ACGAGGTGGCTA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAacgaggtggctaAGATCGAGACCCGACGC chr3:45953500-Alternative-A;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative A aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ACGATAGGTACA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAacgataggtacaAGATCGAGACCCGACGC chr3:45953500-Alternative-A;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Reference C aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag CACTAGACTTCT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAcactagacttctAGATCGAGACCCGACGC chr3:45953500-Reference-C;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Variant T aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GCGGAGTGCTAA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaTcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgcggagtgctaaAGATCGAGACCCGACGC chr3:45953500-Variant-T;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Reference C aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag CTCGTGAATTCT CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAActcgtgaattctAGATCGAGACCCGACGC chr3:45953500-Reference-C;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative A aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag ATTGCACGCCTA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAattgcacgcctaAGATCGAGACCCGACGC chr3:45953500-Alternative-A;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Reference C aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag AGCCGAACCGAA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAagccgaaccgaaAGATCGAGACCCGACGC chr3:45953500-Reference-C;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Reference C aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag AATGACGACTTC CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaCcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAaatgacgacttcAGATCGAGACCCGACGC chr3:45953500-Reference-C;Patient-37 chr3:45953500-CT Inherited Patient-37 intronic LZTFL1 0.000191 0.000188442 0.13 4.75 1.57 LZTFL1 3715 Alternative A aaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcag GTGAACCTCCAA CGACGCGGTCTCTCTCTaaagagaaaagtaaaagcatcttattcctgccaccaactccaaagccccaAcagctccatctgccaaggcagccactgctgtgtccagcgtctttgtcagAGAGGGAGACGGACGTCTCAATAAgtgaacctccaaAGATCGAGACCCGACGC chr3:45953500-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Reference C tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaact CTAGGTCTTCTA CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActaggtcttctaAGATCGAGACCCGACGC chr3:46090167-Reference-C;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Reference C tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaact GATGATTGCGCG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAgatgattgcgcgAGATCGAGACCCGACGC chr3:46090167-Reference-C;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Reference C tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaact AGACCTATCGAG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAagacctatcgagAGATCGAGACCCGACGC chr3:46090167-Reference-C;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Reference C tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaact ACTTGCGATGTT CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAacttgcgatgttAGATCGAGACCCGACGC chr3:46090167-Reference-C;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Reference C tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaact ATCGGTTGTAAG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacCttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAatcggttgtaagAGATCGAGACCCGACGC chr3:46090167-Reference-C;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative A tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaact AACAACGCGCAA CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAaacaacgcgcaaAGATCGAGACCCGACGC chr3:46090167-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative A tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaact CTAGTTACTACG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActagttactacgAGATCGAGACCCGACGC chr3:46090167-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Variant T tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaact CTAAGCGAGTGT CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActaagcgagtgtAGATCGAGACCCGACGC chr3:46090167-Variant-T;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative G tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaact AACGTTGAGCTT CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAaacgttgagcttAGATCGAGACCCGACGC chr3:46090167-Alternative-G;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative G tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaact CTAGCGTCATCG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActagcgtcatcgAGATCGAGACCCGACGC chr3:46090167-Alternative-G;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative G tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaact CTGTCGCTACCA CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActgtcgctaccaAGATCGAGACCCGACGC chr3:46090167-Alternative-G;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Variant T tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaact GCAGCGGATTGA CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAgcagcggattgaAGATCGAGACCCGACGC chr3:46090167-Variant-T;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative A tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaact CAGCTAAGCGAC CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAcagctaagcgacAGATCGAGACCCGACGC chr3:46090167-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative G tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaact ATAGTATAGCGG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAatagtatagcggAGATCGAGACCCGACGC chr3:46090167-Alternative-G;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative A tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaact AAGTTCGCTAGG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAaagttcgctaggAGATCGAGACCCGACGC chr3:46090167-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Variant T tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaact GACGCGTCGAAT CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAgacgcgtcgaatAGATCGAGACCCGACGC chr3:46090167-Variant-T;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Variant T tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaact GAATGGTCGCGA CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAgaatggtcgcgaAGATCGAGACCCGACGC chr3:46090167-Variant-T;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative G tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaact CTCACCTTACGG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacGttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAActcaccttacggAGATCGAGACCCGACGC chr3:46090167-Alternative-G;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Alternative A tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaact ATACCGTTATGG CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacAttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAataccgttatggAGATCGAGACCCGACGC chr3:46090167-Alternative-A;Patient-37 chr3:46090167-CT DeNovo Patient-37 intergenic 0.000127 0.00154 -0.12 1.24 0.05 XCR1 21187 Variant T tgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaact CGCGTCATCACT CGACGCGGTCTCTCTCTtgtgaaaacacaagcatatcctcttccccacttcagtaaacccaccagacTttttcattgtccttcttccagggatttccgtaacatttttggataaactAGAGGGAGACGGACGTCTCAATAAcgcgtcatcactAGATCGAGACCCGACGC chr3:46090167-Variant-T;Patient-37 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative A tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GATGGAATGGAA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgatggaatggaaAGATCGAGACCCGACGC chr3:46322175-Alternative-A;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative A tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GATGCTAGTACT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgatgctagtactAGATCGAGACCCGACGC chr3:46322175-Alternative-A;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Reference C tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga AAGATACGCAGT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAaagatacgcagtAGATCGAGACCCGACGC chr3:46322175-Reference-C;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative A tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga ACGCGTCGAACT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAacgcgtcgaactAGATCGAGACCCGACGC chr3:46322175-Alternative-A;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative A tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GCGGACAACAAG CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgcggacaacaagAGATCGAGACCCGACGC chr3:46322175-Alternative-A;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Reference C tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga CTAGCGGCAATA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAActagcggcaataAGATCGAGACCCGACGC chr3:46322175-Reference-C;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Variant G tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga CTGGTGTATCTT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAActggtgtatcttAGATCGAGACCCGACGC chr3:46322175-Variant-G;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Variant G tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga CGTAGTCGGCTA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAcgtagtcggctaAGATCGAGACCCGACGC chr3:46322175-Variant-G;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Reference C tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga AATGTGCTTCGA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAaatgtgcttcgaAGATCGAGACCCGACGC chr3:46322175-Reference-C;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Variant G tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GCATAGTAGAGT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgcatagtagagtAGATCGAGACCCGACGC chr3:46322175-Variant-G;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Reference C tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GCAATCGGTTCG CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgcaatcggttcgAGATCGAGACCCGACGC chr3:46322175-Reference-C;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative T tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga AGCTGTGTTAAG CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAagctgtgttaagAGATCGAGACCCGACGC chr3:46322175-Alternative-T;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative T tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga CATCTGATGTGA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAcatctgatgtgaAGATCGAGACCCGACGC chr3:46322175-Alternative-T;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Reference C tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GTCGTCACAGCA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacCtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgtcgtcacagcaAGATCGAGACCCGACGC chr3:46322175-Reference-C;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative A tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga GATTGAGTTCGA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacAtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAgattgagttcgaAGATCGAGACCCGACGC chr3:46322175-Alternative-A;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Variant G tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga AGCTATGGTCAA CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAagctatggtcaaAGATCGAGACCCGACGC chr3:46322175-Variant-G;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative T tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga AACTTCATCGGT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAaacttcatcggtAGATCGAGACCCGACGC chr3:46322175-Alternative-T;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Variant G tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga ACCGATTGTTCT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacGtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAaccgattgttctAGATCGAGACCCGACGC chr3:46322175-Variant-G;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative T tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga CTAGCTCGAACT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAActagctcgaactAGATCGAGACCCGACGC chr3:46322175-Alternative-T;Patient-44 chr3:46322175-CG DeNovo Patient-44 intergenic NA 0.000512821 -0.05 1.9 0.23 CCR1 72342 Alternative T tcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctggga ATATACGCGACT CGACGCGGTCTCTCTCTtcacccaagagtgagtttggtggtgcgatcttggctcactgagcctagacTtccccaggctcaggtgatcctcccacctcagcttcttgcgtagctgggaAGAGGGAGACGGACGTCTCAATAAatatacgcgactAGATCGAGACCCGACGC chr3:46322175-Alternative-T;Patient-44 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Variant C tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttc CAACATGAAGTC CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcaacatgaagtcAGATCGAGACCCGACGC chr3:46391031-Variant-C;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Reference G tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttc GCGATACATTGA CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgcgatacattgaAGATCGAGACCCGACGC chr3:46391031-Reference-G;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Reference G tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttc GCAGTATCGTCG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgcagtatcgtcgAGATCGAGACCCGACGC chr3:46391031-Reference-G;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Reference G tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttc CGCTGCGTTAAG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcgctgcgttaagAGATCGAGACCCGACGC chr3:46391031-Reference-G;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Reference G tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttc GACTAAGACGGC CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgactaagacggcAGATCGAGACCCGACGC chr3:46391031-Reference-G;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Reference G tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttc GGTGGTGTAATA CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttGttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAggtggtgtaataAGATCGAGACCCGACGC chr3:46391031-Reference-G;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative T tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttc GTCAGATTCCGG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgtcagattccggAGATCGAGACCCGACGC chr3:46391031-Alternative-T;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative T tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttc CAGACGGTCGAA CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcagacggtcgaaAGATCGAGACCCGACGC chr3:46391031-Alternative-T;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative T tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttc GACCATCACGTC CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgaccatcacgtcAGATCGAGACCCGACGC chr3:46391031-Alternative-T;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Variant C tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttc AACGACAGATGG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAaacgacagatggAGATCGAGACCCGACGC chr3:46391031-Variant-C;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative T tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttc CACATAGTGCTA CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcacatagtgctaAGATCGAGACCCGACGC chr3:46391031-Alternative-T;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative T tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttc GTTGGATAGACA CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttTttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgttggatagacaAGATCGAGACCCGACGC chr3:46391031-Alternative-T;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Variant C tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttc AGTAGGAGGACG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAagtaggaggacgAGATCGAGACCCGACGC chr3:46391031-Variant-C;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Variant C tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttc GATAGCGATTCT CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgatagcgattctAGATCGAGACCCGACGC chr3:46391031-Variant-C;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Variant C tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttc CTATCGAGTAGT CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttCttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAActatcgagtagtAGATCGAGACCCGACGC chr3:46391031-Variant-C;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative A tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttc ACTCTGACGACG CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAactctgacgacgAGATCGAGACCCGACGC chr3:46391031-Alternative-A;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative A tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttc CACAGATAGTCT CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcacagatagtctAGATCGAGACCCGACGC chr3:46391031-Alternative-A;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative A tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttc GTCGCTGTTGTC CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgtcgctgttgtcAGATCGAGACCCGACGC chr3:46391031-Alternative-A;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative A tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttc CACGGCTTCGTT CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAcacggcttcgttAGATCGAGACCCGACGC chr3:46391031-Alternative-A;Patient-30 chr3:46391031-GC Inherited Patient-30 intergenic 0.000701 0.002051282 NA NA NA CCR2 4203 Alternative A tatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttc GCCAGAATGACC CGACGCGGTCTCTCTCTtatgacatctaatctgctgcatttacactctaagtcaaaattaccattttAttcttttaatttctatttctaatcatacattcttgtctactcctggttcAGAGGGAGACGGACGTCTCAATAAgccagaatgaccAGATCGAGACCCGACGC chr3:46391031-Alternative-A;Patient-30 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative T ttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CGTATCATAGCT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcgtatcatagctAGATCGAGACCCGACGC chr3:46860696-Alternative-T;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative T ttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CATGAGGTCACT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcatgaggtcactAGATCGAGACCCGACGC chr3:46860696-Alternative-T;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative T ttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CATTAGTCAACG CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcattagtcaacgAGATCGAGACCCGACGC chr3:46860696-Alternative-T;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Variant G ttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccag ACTTCGAAGACT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAacttcgaagactAGATCGAGACCCGACGC chr3:46860696-Variant-G;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative A ttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccag AATCGCAACCGG CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAaatcgcaaccggAGATCGAGACCCGACGC chr3:46860696-Alternative-A;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative T ttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccag ATCTTGTCTGAC CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAatcttgtctgacAGATCGAGACCCGACGC chr3:46860696-Alternative-T;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative A ttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccag AAGCGCATTCGG CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAaagcgcattcggAGATCGAGACCCGACGC chr3:46860696-Alternative-A;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative T ttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CGGTGTCGGATA CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctTttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcggtgtcggataAGATCGAGACCCGACGC chr3:46860696-Alternative-T;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Variant G ttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CTGCGGTACTGA CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAActgcggtactgaAGATCGAGACCCGACGC chr3:46860696-Variant-G;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Reference C ttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CACGTTGCCGAT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcacgttgccgatAGATCGAGACCCGACGC chr3:46860696-Reference-C;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Variant G ttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccag ACGCTCTTAACT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAacgctcttaactAGATCGAGACCCGACGC chr3:46860696-Variant-G;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative A ttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccag AGTCGATGTCTA CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAagtcgatgtctaAGATCGAGACCCGACGC chr3:46860696-Alternative-A;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative A ttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccag GGCTTCTGTCGT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAggcttctgtcgtAGATCGAGACCCGACGC chr3:46860696-Alternative-A;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Variant G ttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccag AGGAGACTGAAT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAaggagactgaatAGATCGAGACCCGACGC chr3:46860696-Variant-G;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Reference C ttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccag ATCGTGAAGTGT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAatcgtgaagtgtAGATCGAGACCCGACGC chr3:46860696-Reference-C;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Variant G ttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccag GCGGTTGGTCAA CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctGttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAgcggttggtcaaAGATCGAGACCCGACGC chr3:46860696-Variant-G;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Reference C ttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccag GACGCTACACAC CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAgacgctacacacAGATCGAGACCCGACGC chr3:46860696-Reference-C;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Reference C ttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccag GGACAGTTCGAG CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAggacagttcgagAGATCGAGACCCGACGC chr3:46860696-Reference-C;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Reference C ttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccag ACGAAGCATGGT CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctCttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAacgaagcatggtAGATCGAGACCCGACGC chr3:46860696-Reference-C;Patient-14 chr3:46860696-CG DeNovo Patient-14 intergenic NA 0.000513 0.23 6.32 0 MYL3 44276 Alternative A ttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccag CATAGTACTACG CGACGCGGTCTCTCTCTttacatctttctcattattagtatttgcatagtatatcatttttcttcctAttacttttaatctaattatgccttatatttaaagcgcatttcctgccagAGAGGGAGACGGACGTCTCAATAAcatagtactacgAGATCGAGACCCGACGC chr3:46860696-Alternative-A;Patient-14 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Variant C ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg CTCGCTAAGACG CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAActcgctaagacgAGATCGAGACCCGACGC chr3:46924033-Variant-C;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Variant C ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GCGAATCGTACC CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgcgaatcgtaccAGATCGAGACCCGACGC chr3:46924033-Variant-C;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Variant C ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg AGCTCGAGTATT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAagctcgagtattAGATCGAGACCCGACGC chr3:46924033-Variant-C;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Variant C ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GCGAACGGTAAG CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgcgaacggtaagAGATCGAGACCCGACGC chr3:46924033-Variant-C;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative T ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GCGTCAACACCA CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgcgtcaacaccaAGATCGAGACCCGACGC chr3:46924033-Alternative-T;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative T ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg AACAGAGCTAAC CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAaacagagctaacAGATCGAGACCCGACGC chr3:46924033-Alternative-T;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative T ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg AGATGAATCGTC CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAagatgaatcgtcAGATCGAGACCCGACGC chr3:46924033-Alternative-T;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative A ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg ATCCGTACGAGT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAatccgtacgagtAGATCGAGACCCGACGC chr3:46924033-Alternative-A;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative A ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GTTCAATCCGAA CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgttcaatccgaaAGATCGAGACCCGACGC chr3:46924033-Alternative-A;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative T ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GCCTGACTAGAT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgcctgactagatAGATCGAGACCCGACGC chr3:46924033-Alternative-T;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative A ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GCCGGCATTCAA CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgccggcattcaaAGATCGAGACCCGACGC chr3:46924033-Alternative-A;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative A ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg AGGTAGATCCAA CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAaggtagatccaaAGATCGAGACCCGACGC chr3:46924033-Alternative-A;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Variant C ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GATGATGACTTC CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaCccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgatgatgacttcAGATCGAGACCCGACGC chr3:46924033-Variant-C;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative T ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GGAATGTGGTAT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaTccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAggaatgtggtatAGATCGAGACCCGACGC chr3:46924033-Alternative-T;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Alternative A ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GATCGAACAGTT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaAccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAgatcgaacagttAGATCGAGACCCGACGC chr3:46924033-Alternative-A;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Reference G ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg ACAGATGGCTAA CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAacagatggctaaAGATCGAGACCCGACGC chr3:46924033-Reference-G;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Reference G ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GGATGTCGGCTT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAggatgtcggcttAGATCGAGACCCGACGC chr3:46924033-Reference-G;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Reference G ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg CGCGGCTGAATT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAcgcggctgaattAGATCGAGACCCGACGC chr3:46924033-Reference-G;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Reference G ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg AGGAACTTGAGT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAaggaacttgagtAGATCGAGACCCGACGC chr3:46924033-Reference-G;Patient-64 chr3:46924033-GC DeNovo Patient-64 intronic PTH1R 3.2e-05 0.000101 0.86 12.28 1.07 PTH1R 4796 Reference G ggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccg GGTACCGGATGT CGACGCGGTCTCTCTCTggggaagtggccggagtcggggaggagcgactccgggcctggccggagcaGccaggctgctctgtctcggtgtcagtcggcggcgcctcctcggaacccgAGAGGGAGACGGACGTCTCAATAAggtaccggatgtAGATCGAGACCCGACGC chr3:46924033-Reference-G;Patient-64 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative T tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AGACTAGTCGCT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAagactagtcgctAGATCGAGACCCGACGC chr3:46950313-Alternative-T;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Variant A tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GTTAGGTACCGC CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgttaggtaccgcAGATCGAGACCCGACGC chr3:46950313-Variant-A;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative C tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GCGGTTAATTCT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgcggttaattctAGATCGAGACCCGACGC chr3:46950313-Alternative-C;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative T tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AGGTTCGTCACG CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaggttcgtcacgAGATCGAGACCCGACGC chr3:46950313-Alternative-T;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Variant A tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GTAGTACGACGG CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgtagtacgacggAGATCGAGACCCGACGC chr3:46950313-Variant-A;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Reference G tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GCACGCTAACCT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgcacgctaacctAGATCGAGACCCGACGC chr3:46950313-Reference-G;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative C tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AGGACCGTTGTC CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaggaccgttgtcAGATCGAGACCCGACGC chr3:46950313-Alternative-C;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Variant A tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GATCACATGCTA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgatcacatgctaAGATCGAGACCCGACGC chr3:46950313-Variant-A;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative T tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AACCGAAGTGAT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaaccgaagtgatAGATCGAGACCCGACGC chr3:46950313-Alternative-T;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative T tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GCGATCAAGAAG CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgcgatcaagaagAGATCGAGACCCGACGC chr3:46950313-Alternative-T;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative T tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GATGGTGTACTT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaTgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgatggtgtacttAGATCGAGACCCGACGC chr3:46950313-Alternative-T;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative C tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GGCAATCGACCT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAggcaatcgacctAGATCGAGACCCGACGC chr3:46950313-Alternative-C;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Variant A tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GGCGGCATTATC CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAggcggcattatcAGATCGAGACCCGACGC chr3:46950313-Variant-A;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Variant A tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AAGTAGCTAGCA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaAgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaagtagctagcaAGATCGAGACCCGACGC chr3:46950313-Variant-A;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Reference G tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GGTTGTTCGATA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAggttgttcgataAGATCGAGACCCGACGC chr3:46950313-Reference-G;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative C tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AATAAGCCACGA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaataagccacgaAGATCGAGACCCGACGC chr3:46950313-Alternative-C;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Alternative C tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GGAACGATGTAA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaCgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAggaacgatgtaaAGATCGAGACCCGACGC chr3:46950313-Alternative-C;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Reference G tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AACTCGCATTGA CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAaactcgcattgaAGATCGAGACCCGACGC chr3:46950313-Reference-G;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Reference G tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac GCGTATCCGAAG CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAgcgtatccgaagAGATCGAGACCCGACGC chr3:46950313-Reference-G;Patient-37 chr3:46950313-GA Inherited Patient-37 intergenic 0.000382 0.00256 -0.16 0.96 -6.54 PTH1R 31076 Reference G tgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggac AGCCAGGCCAAT CGACGCGGTCTCTCTCTtgcgtgggggaacacgtgtgtaaaggcatggatgtgcacgtgtgtgtgcaGgggagtggccatatttgtggctgtgtggagtgtgtgggccacagcggacAGAGGGAGACGGACGTCTCAATAAagccaggccaatAGATCGAGACCCGACGC chr3:46950313-Reference-G;Patient-37 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Variant A tatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctg CGATATGAAGCT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAcgatatgaagctAGATCGAGACCCGACGC chr3:47134761-Variant-A;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Reference T tatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctg AGCGCTAGATCG CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAagcgctagatcgAGATCGAGACCCGACGC chr3:47134761-Reference-T;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Variant A tatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctg CAGATCACGTAC CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAcagatcacgtacAGATCGAGACCCGACGC chr3:47134761-Variant-A;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Reference T tatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctg ACTCTAGCGCCT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAactctagcgcctAGATCGAGACCCGACGC chr3:47134761-Reference-T;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Variant A tatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctg AGGTAGCCGCAA CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAaggtagccgcaaAGATCGAGACCCGACGC chr3:47134761-Variant-A;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative C tatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctg ATTGCGGCTATT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAattgcggctattAGATCGAGACCCGACGC chr3:47134761-Alternative-C;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Variant A tatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctg GGTGCGCTTAGT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAggtgcgcttagtAGATCGAGACCCGACGC chr3:47134761-Variant-A;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Variant A tatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctg ATCTCTTGAGCT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaAaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAatctcttgagctAGATCGAGACCCGACGC chr3:47134761-Variant-A;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative C tatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctg GTTCGACTAAGT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAgttcgactaagtAGATCGAGACCCGACGC chr3:47134761-Alternative-C;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Reference T tatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctg CTACGTCTGTCG CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAActacgtctgtcgAGATCGAGACCCGACGC chr3:47134761-Reference-T;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative C tatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctg ACGCTCACACGA CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAacgctcacacgaAGATCGAGACCCGACGC chr3:47134761-Alternative-C;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative C tatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctg ATATGACGAGCA CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAatatgacgagcaAGATCGAGACCCGACGC chr3:47134761-Alternative-C;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative C tatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctg ACGGCGTTCCAA CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaCaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAacggcgttccaaAGATCGAGACCCGACGC chr3:47134761-Alternative-C;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Reference T tatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctg CACGTGTTCGAG CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAcacgtgttcgagAGATCGAGACCCGACGC chr3:47134761-Reference-T;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Reference T tatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctg CTGTCGGTTGCT CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaTaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAActgtcggttgctAGATCGAGACCCGACGC chr3:47134761-Reference-T;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative G tatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctg ACAACACATCGC CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAacaacacatcgcAGATCGAGACCCGACGC chr3:47134761-Alternative-G;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative G tatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctg GTATCAACACCG CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAgtatcaacaccgAGATCGAGACCCGACGC chr3:47134761-Alternative-G;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative G tatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctg GGCTCCATAATA CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAggctccataataAGATCGAGACCCGACGC chr3:47134761-Alternative-G;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative G tatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctg ACCACAACTGCG CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAaccacaactgcgAGATCGAGACCCGACGC chr3:47134761-Alternative-G;Patient-91 chr3:47134761-TA Inherited Patient-91 intronic SETD2 9.7e-05 4.95e-05 0.5 9.37 0.71 SETD2 70705 Alternative G tatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctg GGCGATATACAC CGACGCGGTCTCTCTCTtatccatgttactgtatgcagccagtttattttcatgactatttcttttaGaatttatccatcctttttttttttttttttgagactgagcttcactctgAGAGGGAGACGGACGTCTCAATAAggcgatatacacAGATCGAGACCCGACGC chr3:47134761-Alternative-G;Patient-91 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Variant A agttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct AGATATAGGTCG CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAagatataggtcgAGATCGAGACCCGACGC chr3:47187174-Variant-A;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Variant A agttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CTCACGTAGTGG CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAActcacgtagtggAGATCGAGACCCGACGC chr3:47187174-Variant-A;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative C agttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct AAGGAGGTTAAG CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAaaggaggttaagAGATCGAGACCCGACGC chr3:47187174-Alternative-C;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative T agttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct ATCGTTCAGCTT CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAatcgttcagcttAGATCGAGACCCGACGC chr3:47187174-Alternative-T;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative T agttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CAACGCCTTACA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAcaacgccttacaAGATCGAGACCCGACGC chr3:47187174-Alternative-T;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative T agttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct GTCGTCTGGCTT CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAgtcgtctggcttAGATCGAGACCCGACGC chr3:47187174-Alternative-T;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative C agttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct GGATATTCGAGA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAggatattcgagaAGATCGAGACCCGACGC chr3:47187174-Alternative-C;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative T agttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct ACCGGAGTGCTA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAaccggagtgctaAGATCGAGACCCGACGC chr3:47187174-Alternative-T;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative C agttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct AGGAACGGCGTT CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAaggaacggcgttAGATCGAGACCCGACGC chr3:47187174-Alternative-C;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative C agttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CTATGTCCATAC CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAActatgtccatacAGATCGAGACCCGACGC chr3:47187174-Alternative-C;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative C agttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct GTTATGTAACCG CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaCgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAgttatgtaaccgAGATCGAGACCCGACGC chr3:47187174-Alternative-C;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Reference G agttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct GCGTATCGGTTC CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAgcgtatcggttcAGATCGAGACCCGACGC chr3:47187174-Reference-G;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Variant A agttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CGTGTCACGGTT CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAcgtgtcacggttAGATCGAGACCCGACGC chr3:47187174-Variant-A;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Reference G agttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CGTAAGCCGAAC CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAcgtaagccgaacAGATCGAGACCCGACGC chr3:47187174-Reference-G;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Alternative T agttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct AGATGTGTTCAC CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaTgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAagatgtgttcacAGATCGAGACCCGACGC chr3:47187174-Alternative-T;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Variant A agttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct ACGATCCAACCA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAacgatccaaccaAGATCGAGACCCGACGC chr3:47187174-Variant-A;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Reference G agttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct AGCATGCTTCAA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAagcatgcttcaaAGATCGAGACCCGACGC chr3:47187174-Reference-G;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Reference G agttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct ATTGTGACCGAT CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAAattgtgaccgatAGATCGAGACCCGACGC chr3:47187174-Reference-G;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Reference G agttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CTTGACGTAAGG CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaGgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAActtgacgtaaggAGATCGAGACCCGACGC chr3:47187174-Reference-G;Patient-57 chr3:47187174-GA DeNovo Patient-57 intronic SETD2 NA 4.95e-05 -0.02 2.29 0.38 SETD2 18292 Variant A agttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagct CTTGTACCGCCA CGACGCGGTCTCTCTCTagttttaacttttggagcatttcagatttcacatttttggattcagctgaAgcctgtatacagtttaagaactatataacctaaaaggaactatgcagctAGAGGGAGACGGACGTCTCAATAActtgtaccgccaAGATCGAGACCCGACGC chr3:47187174-Variant-A;Patient-57 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Reference A cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacacctt AATAGTCAAGCG CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAaatagtcaagcgAGATCGAGACCCGACGC chr3:47742924-Reference-A;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Reference A cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CGATAGAGTAGT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcgatagagtagtAGATCGAGACCCGACGC chr3:47742924-Reference-A;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Variant C cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CAACAGATGCGC CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcaacagatgcgcAGATCGAGACCCGACGC chr3:47742924-Variant-C;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative T cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacacctt ACTTCCAATGCT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAacttccaatgctAGATCGAGACCCGACGC chr3:47742924-Alternative-T;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative T cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacacctt AAGCATTGCGGC CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAaagcattgcggcAGATCGAGACCCGACGC chr3:47742924-Alternative-T;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Variant C cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacacctt AGCCGACTTGCT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAagccgacttgctAGATCGAGACCCGACGC chr3:47742924-Variant-C;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Reference A cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacacctt ACTATCGACGTT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAactatcgacgttAGATCGAGACCCGACGC chr3:47742924-Reference-A;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Reference A cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacacctt ATAATGTCACCG CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAataatgtcaccgAGATCGAGACCCGACGC chr3:47742924-Reference-A;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative G cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CGGCCGTCATTA CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcggccgtcattaAGATCGAGACCCGACGC chr3:47742924-Alternative-G;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Variant C cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CAGGCTTCGCTA CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcaggcttcgctaAGATCGAGACCCGACGC chr3:47742924-Variant-C;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Reference A cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacacctt GTGGCAAGCTGA CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaAgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAgtggcaagctgaAGATCGAGACCCGACGC chr3:47742924-Reference-A;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative T cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacacctt ATCTGCATATGG CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAatctgcatatggAGATCGAGACCCGACGC chr3:47742924-Alternative-T;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative T cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CGTCACAGAGAA CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcgtcacagagaaAGATCGAGACCCGACGC chr3:47742924-Alternative-T;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative G cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacacctt GATACCACAGCG CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAgataccacagcgAGATCGAGACCCGACGC chr3:47742924-Alternative-G;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative G cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacacctt ACGTCGATTCGG CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAacgtcgattcggAGATCGAGACCCGACGC chr3:47742924-Alternative-G;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Variant C cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacacctt GCGTCATCGTAC CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAgcgtcatcgtacAGATCGAGACCCGACGC chr3:47742924-Variant-C;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative G cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CGTCAACGAGTT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcgtcaacgagttAGATCGAGACCCGACGC chr3:47742924-Alternative-G;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative T cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacacctt CAAGCCGGTATT CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaTgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAcaagccggtattAGATCGAGACCCGACGC chr3:47742924-Alternative-T;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Alternative G cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacacctt AACGTAGCAACA CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaGgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAaacgtagcaacaAGATCGAGACCCGACGC chr3:47742924-Alternative-G;Patient-97 chr3:47742924-AC DeNovo Patient-97 intronic SMARCC1 NA 9.67e-05 0.82 12.03 4.77 SMARCC1 80480 Variant C cccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacacctt GATCGGTGGAAC CGACGCGGTCTCTCTCTcccataaaggctagcttggctaaaacatacaagtatatgaaatataaacaCgactgattatagctactgatagcaaacagtttctgaggttgtacaccttAGAGGGAGACGGACGTCTCAATAAgatcggtggaacAGATCGAGACCCGACGC chr3:47742924-Variant-C;Patient-97 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Variant C aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GGTAAGAGCAGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAggtaagagcagtAGATCGAGACCCGACGC chr3:47754969-Variant-C;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative T aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc ATAATGATCGCG CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAataatgatcgcgAGATCGAGACCCGACGC chr3:47754969-Alternative-T;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Variant C aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GATGGCACGCTA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAgatggcacgctaAGATCGAGACCCGACGC chr3:47754969-Variant-C;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative T aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GGTTCAGCAACC CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAggttcagcaaccAGATCGAGACCCGACGC chr3:47754969-Alternative-T;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative T aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc AATAGTGGTGGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAaatagtggtggtAGATCGAGACCCGACGC chr3:47754969-Alternative-T;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Variant C aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GGTTGTCGGAGA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAggttgtcggagaAGATCGAGACCCGACGC chr3:47754969-Variant-C;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Variant C aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GGATAAGGTACT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAggataaggtactAGATCGAGACCCGACGC chr3:47754969-Variant-C;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Variant C aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CTATCACACCTA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgCagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAActatcacacctaAGATCGAGACCCGACGC chr3:47754969-Variant-C;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Reference A aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CGGAGACACATC CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAcggagacacatcAGATCGAGACCCGACGC chr3:47754969-Reference-A;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Reference A aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CTGCGATAATGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAActgcgataatgtAGATCGAGACCCGACGC chr3:47754969-Reference-A;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Reference A aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CGGTAACAGCGA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAcggtaacagcgaAGATCGAGACCCGACGC chr3:47754969-Reference-A;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Reference A aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GCGCACAATTAA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAgcgcacaattaaAGATCGAGACCCGACGC chr3:47754969-Reference-A;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Reference A aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc AACGTAGCTTGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgAagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAaacgtagcttgtAGATCGAGACCCGACGC chr3:47754969-Reference-A;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative T aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GTCGTGAATGGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAgtcgtgaatggtAGATCGAGACCCGACGC chr3:47754969-Alternative-T;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative G aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CAGGATCTTAGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAcaggatcttagtAGATCGAGACCCGACGC chr3:47754969-Alternative-G;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative T aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc AGGCTCATACTA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgTagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAaggctcatactaAGATCGAGACCCGACGC chr3:47754969-Alternative-T;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative G aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc ATAGGAGCGCGA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAataggagcgcgaAGATCGAGACCCGACGC chr3:47754969-Alternative-G;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative G aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc GGTACCTGCTTC CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAggtacctgcttcAGATCGAGACCCGACGC chr3:47754969-Alternative-G;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative G aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc ATATTCCGCTGT CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAAatattccgctgtAGATCGAGACCCGACGC chr3:47754969-Alternative-G;Patient-39 chr3:47754969-AC DeNovo Patient-39 intronic SMARCC1 3.2e-05 4.95e-05 0.18 5.57 0.23 SMARCC1 68435 Alternative G aatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagc CTACGGAATTGA CGACGCGGTCTCTCTCTaatttttttgttttgagacagggtcttaacttgttataaaggctggagtgGagtggttgcaatcacggctcactgcagcctcaacctcctcagctcaagcAGAGGGAGACGGACGTCTCAATAActacggaattgaAGATCGAGACCCGACGC chr3:47754969-Alternative-G;Patient-39 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Variant G atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa GCATGACTGACA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAgcatgactgacaAGATCGAGACCCGACGC chr3:47765453-Variant-G;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Reference A atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa ACGGCTCATGGT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAacggctcatggtAGATCGAGACCCGACGC chr3:47765453-Reference-A;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative C atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTCGGAATCGAG CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActcggaatcgagAGATCGAGACCCGACGC chr3:47765453-Alternative-C;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Reference A atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AAGGCTCGCCTA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAaaggctcgcctaAGATCGAGACCCGACGC chr3:47765453-Reference-A;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Variant G atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa ACAACTCCAACA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAacaactccaacaAGATCGAGACCCGACGC chr3:47765453-Variant-G;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Reference A atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AGAGTAACACAC CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAagagtaacacacAGATCGAGACCCGACGC chr3:47765453-Reference-A;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative T atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AGCTATGCGCAG CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAagctatgcgcagAGATCGAGACCCGACGC chr3:47765453-Alternative-T;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative C atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa GGACTTCAATCA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAggacttcaatcaAGATCGAGACCCGACGC chr3:47765453-Alternative-C;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative C atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AAGTGAACGACT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAaagtgaacgactAGATCGAGACCCGACGC chr3:47765453-Alternative-C;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Reference A atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AGAAGTGACCGG CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAagaagtgaccggAGATCGAGACCCGACGC chr3:47765453-Reference-A;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative T atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CGCGAATGTATA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAcgcgaatgtataAGATCGAGACCCGACGC chr3:47765453-Alternative-T;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative C atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTTGCGCCTAGA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActtgcgcctagaAGATCGAGACCCGACGC chr3:47765453-Alternative-C;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative C atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTGCTACGGTTC CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatCtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActgctacggttcAGATCGAGACCCGACGC chr3:47765453-Alternative-C;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Variant G atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTGTCGGTGTTC CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActgtcggtgttcAGATCGAGACCCGACGC chr3:47765453-Variant-G;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Variant G atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTGCGTAAGTCG CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActgcgtaagtcgAGATCGAGACCCGACGC chr3:47765453-Variant-G;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Variant G atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa CTATATGCGCAA CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatGtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAActatatgcgcaaAGATCGAGACCCGACGC chr3:47765453-Variant-G;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative T atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa GTCGCGGCAATT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAgtcgcggcaattAGATCGAGACCCGACGC chr3:47765453-Alternative-T;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative T atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa AAGGCGCTATAT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAaaggcgctatatAGATCGAGACCCGACGC chr3:47765453-Alternative-T;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Alternative T atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa GTCGTGATCAAT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatTtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAgtcgtgatcaatAGATCGAGACCCGACGC chr3:47765453-Alternative-T;Patient-63 chr3:47765453-AG DeNovo Patient-63 intronic SMARCC1 NA 4.95e-05 0.23 6.25 0 SMARCC1 57951 Reference A atactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaa GTCAGTTAAGGT CGACGCGGTCTCTCTCTatactcaatgtcactaatcatcaagacaatgaaaatcaaaacaatgatatAtcagctttttatctgttaggatgaccattataacaaaacagaaaataaaAGAGGGAGACGGACGTCTCAATAAgtcagttaaggtAGATCGAGACCCGACGC chr3:47765453-Reference-A;Patient-63 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative C tgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc ATCGATATCCGA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAatcgatatccgaAGATCGAGACCCGACGC chr3:48413030-Alternative-C;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Variant A tgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GCGACATGTTCG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgcgacatgttcgAGATCGAGACCCGACGC chr3:48413030-Variant-A;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative C tgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc CGATTAGTGGAA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAcgattagtggaaAGATCGAGACCCGACGC chr3:48413030-Alternative-C;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative T tgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GCAATCGTCAAT CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgcaatcgtcaatAGATCGAGACCCGACGC chr3:48413030-Alternative-T;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Variant A tgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GCGCATCAATGA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgcgcatcaatgaAGATCGAGACCCGACGC chr3:48413030-Variant-A;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Variant A tgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GGAGGTCAATTA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAggaggtcaattaAGATCGAGACCCGACGC chr3:48413030-Variant-A;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative C tgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc CACGAGATGTGG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAcacgagatgtggAGATCGAGACCCGACGC chr3:48413030-Alternative-C;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative T tgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc CGTCCGTGACTT CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAcgtccgtgacttAGATCGAGACCCGACGC chr3:48413030-Alternative-T;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative T tgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GTTCGTGATAAC CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgttcgtgataacAGATCGAGACCCGACGC chr3:48413030-Alternative-T;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative T tgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc AACGCAGCACGA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAaacgcagcacgaAGATCGAGACCCGACGC chr3:48413030-Alternative-T;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Variant A tgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc CACTAGATGCAG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAcactagatgcagAGATCGAGACCCGACGC chr3:48413030-Variant-A;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Reference G tgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GCGAACGCGTAT CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgcgaacgcgtatAGATCGAGACCCGACGC chr3:48413030-Reference-G;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Variant A tgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GTTCAACGACTA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacAcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgttcaacgactaAGATCGAGACCCGACGC chr3:48413030-Variant-A;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Reference G tgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GTAGTCAGGTCG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgtagtcaggtcgAGATCGAGACCCGACGC chr3:48413030-Reference-G;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative T tgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GATAGTCGGCAG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacTcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgatagtcggcagAGATCGAGACCCGACGC chr3:48413030-Alternative-T;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Reference G tgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GTAGCTAGGCGT CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgtagctaggcgtAGATCGAGACCCGACGC chr3:48413030-Reference-G;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Reference G tgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc GACGGCTATCAG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAgacggctatcagAGATCGAGACCCGACGC chr3:48413030-Reference-G;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Reference G tgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc ATTCTATCTCGG CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacGcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAattctatctcggAGATCGAGACCCGACGC chr3:48413030-Reference-G;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative C tgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc AGAGTTACGTGA CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAagagttacgtgaAGATCGAGACCCGACGC chr3:48413030-Alternative-C;Patient-65 chr3:48413030-GA Inherited Patient-65 intergenic 9.6e-05 0.000512821 -0.32 0.32 -1.15 PLXNB1 58429 Alternative C tgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcacc CGAAGCTGACCT CGACGCGGTCTCTCTCTtgtatttttctcactcctctccacacaccccttgactcgcctttccccacCcccctctaggtgcttcttggtctttgcttttcctttttatttcctcaccAGAGGGAGACGGACGTCTCAATAAcgaagctgacctAGATCGAGACCCGACGC chr3:48413030-Alternative-C;Patient-65 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Reference A cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GTCAGCTTCTAA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgtcagcttctaaAGATCGAGACCCGACGC chr3:48882487-Reference-A;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Reference A cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GGTTGCTCTAGG CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAggttgctctaggAGATCGAGACCCGACGC chr3:48882487-Reference-A;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Reference A cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CTAGCGGCAACT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAActagcggcaactAGATCGAGACCCGACGC chr3:48882487-Reference-A;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Variant G cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CGTCCTTCAGGT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAcgtccttcaggtAGATCGAGACCCGACGC chr3:48882487-Variant-G;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative T cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CTTATAGCTTCG CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAActtatagcttcgAGATCGAGACCCGACGC chr3:48882487-Alternative-T;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative T cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CGCTGAACAGCA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAcgctgaacagcaAGATCGAGACCCGACGC chr3:48882487-Alternative-T;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative C cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GCGCATTCTATA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgcgcattctataAGATCGAGACCCGACGC chr3:48882487-Alternative-C;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative C cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GCCACCGAAGTT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgccaccgaagttAGATCGAGACCCGACGC chr3:48882487-Alternative-C;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative C cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CGACGCGACTTA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAcgacgcgacttaAGATCGAGACCCGACGC chr3:48882487-Alternative-C;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Variant G cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GTAACGAGGATT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgtaacgaggattAGATCGAGACCCGACGC chr3:48882487-Variant-G;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative T cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GCGTAATCGGCA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgcgtaatcggcaAGATCGAGACCCGACGC chr3:48882487-Alternative-T;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative C cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GACAACAACAGG CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgacaacaacaggAGATCGAGACCCGACGC chr3:48882487-Alternative-C;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative C cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag GTGTTCCGGTCA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatCaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAgtgttccggtcaAGATCGAGACCCGACGC chr3:48882487-Alternative-C;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Variant G cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag AGACCATCAACG CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAagaccatcaacgAGATCGAGACCCGACGC chr3:48882487-Variant-G;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative T cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag CGGCTTCTTGCA CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAcggcttcttgcaAGATCGAGACCCGACGC chr3:48882487-Alternative-T;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Reference A cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag AAGAACGTACGT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAaagaacgtacgtAGATCGAGACCCGACGC chr3:48882487-Reference-A;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Reference A cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag AATATATCCGGC CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatAaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAaatatatccggcAGATCGAGACCCGACGC chr3:48882487-Reference-A;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Alternative T cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag ACGCTACCGTCT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatTaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAacgctaccgtctAGATCGAGACCCGACGC chr3:48882487-Alternative-T;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Variant G cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag ATTCGGTCGCGT CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAattcggtcgcgtAGATCGAGACCCGACGC chr3:48882487-Variant-G;Patient-84 chr3:48882487-AG Inherited Patient-84 intronic PRKAR2A NA 4.95e-05 0.9 12.59 3.08 PRKAR2A 2782 Variant G cttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacag ACAAGCTGACCG CGACGCGGTCTCTCTCTcttttactcatctgaggctaatttctaaaatcctaaagtgttgtgtaaatGaaaattgtctcaaagcaggttactgctttgtgatttacagagatgacagAGAGGGAGACGGACGTCTCAATAAacaagctgaccgAGATCGAGACCCGACGC chr3:48882487-Variant-G;Patient-84 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative C agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CGCGAGTACGAA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAcgcgagtacgaaAGATCGAGACCCGACGC chr3:49501923-Alternative-C;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative C agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GGAACACCACAT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAggaacaccacatAGATCGAGACCCGACGC chr3:49501923-Alternative-C;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Reference G agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga AGTCTACGCTAA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAagtctacgctaaAGATCGAGACCCGACGC chr3:49501923-Reference-G;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative C agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CTCTAGCGTAAC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAActctagcgtaacAGATCGAGACCCGACGC chr3:49501923-Alternative-C;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative C agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GCGCAACTATAC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgcgcaactatacAGATCGAGACCCGACGC chr3:49501923-Alternative-C;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative T agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GAATCGACGAAC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgaatcgacgaacAGATCGAGACCCGACGC chr3:49501923-Alternative-T;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Reference G agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CGTGTTCGGTTC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAcgtgttcggttcAGATCGAGACCCGACGC chr3:49501923-Reference-G;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative C agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CGTGTACTTGTT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaCgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAcgtgtacttgttAGATCGAGACCCGACGC chr3:49501923-Alternative-C;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Reference G agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga AGCGCATCTGGT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAagcgcatctggtAGATCGAGACCCGACGC chr3:49501923-Reference-G;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative T agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga ATTCGCGCAGCA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAattcgcgcagcaAGATCGAGACCCGACGC chr3:49501923-Alternative-T;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative T agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GTGTTCAACGGC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgtgttcaacggcAGATCGAGACCCGACGC chr3:49501923-Alternative-T;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Reference G agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GCGCGATAACAC CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgcgcgataacacAGATCGAGACCCGACGC chr3:49501923-Reference-G;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative T agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GGAATGCGTCCT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAggaatgcgtcctAGATCGAGACCCGACGC chr3:49501923-Alternative-T;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Reference G agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CATCATGCGGAG CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaGgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAcatcatgcggagAGATCGAGACCCGACGC chr3:49501923-Reference-G;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Variant A agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga ACTGCTATCTGT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAactgctatctgtAGATCGAGACCCGACGC chr3:49501923-Variant-A;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Alternative T agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CTGTCGTCGCTA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaTgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAActgtcgtcgctaAGATCGAGACCCGACGC chr3:49501923-Alternative-T;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Variant A agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GATTCACTTCCA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgattcacttccaAGATCGAGACCCGACGC chr3:49501923-Variant-A;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Variant A agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga ACTTCGAACCGA CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAacttcgaaccgaAGATCGAGACCCGACGC chr3:49501923-Variant-A;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Variant A agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga CGCGCAATCGAT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAcgcgcaatcgatAGATCGAGACCCGACGC chr3:49501923-Variant-A;Patient-90 chr3:49501923-GA DeNovo Patient-90 intergenic 0.000358 0.00308 -0.39 0.19 -0.3 DAG1 4222 Variant A agccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagaga GCCGTGGTAGAT CGACGCGGTCTCTCTCTagccgggcgtggtggcgggcgcctgtaatcccagctactcagggggctgaAgcaggagaatcgcttgggcccgggaggcggaggttacagtgaacagagaAGAGGGAGACGGACGTCTCAATAAgccgtggtagatAGATCGAGACCCGACGC chr3:49501923-Variant-A;Patient-90 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative G ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GACCGCAAGCAT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgaccgcaagcatAGATCGAGACCCGACGC chr3:49941754-Alternative-G;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Reference T ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CGATCGGTTATT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcgatcggttattAGATCGAGACCCGACGC chr3:49941754-Reference-T;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Reference T ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CGTACGCTCGAA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcgtacgctcgaaAGATCGAGACCCGACGC chr3:49941754-Reference-T;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative G ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CGTCAATCCGAA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcgtcaatccgaaAGATCGAGACCCGACGC chr3:49941754-Alternative-G;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Reference T ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GCACGTACATAT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgcacgtacatatAGATCGAGACCCGACGC chr3:49941754-Reference-T;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Reference T ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GGAGTAACCAAG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAggagtaaccaagAGATCGAGACCCGACGC chr3:49941754-Reference-T;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Reference T ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GAATTGTGGAGA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtTatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgaattgtggagaAGATCGAGACCCGACGC chr3:49941754-Reference-T;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative G ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag AAGATAGCGCTA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAaagatagcgctaAGATCGAGACCCGACGC chr3:49941754-Alternative-G;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative A ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag ACTTGCGTACAT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAacttgcgtacatAGATCGAGACCCGACGC chr3:49941754-Alternative-A;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative A ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GTTCTAGCTACA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgttctagctacaAGATCGAGACCCGACGC chr3:49941754-Alternative-A;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative A ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GCGATGGAGATA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgcgatggagataAGATCGAGACCCGACGC chr3:49941754-Alternative-A;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative A ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CGTAACTCGTGG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcgtaactcgtggAGATCGAGACCCGACGC chr3:49941754-Alternative-A;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative G ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag ACACAGCTGACA CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAacacagctgacaAGATCGAGACCCGACGC chr3:49941754-Alternative-G;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative A ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CATTCGGCTTCG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtAatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcattcggcttcgAGATCGAGACCCGACGC chr3:49941754-Alternative-A;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Variant C ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag GTCAACGTTCGG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAgtcaacgttcggAGATCGAGACCCGACGC chr3:49941754-Variant-C;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Variant C ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag ACGAAGGACAGT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAacgaaggacagtAGATCGAGACCCGACGC chr3:49941754-Variant-C;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Variant C ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag AAGTACCGTAGG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAaagtaccgtaggAGATCGAGACCCGACGC chr3:49941754-Variant-C;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Variant C ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag AATGAGCACGCG CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAaatgagcacgcgAGATCGAGACCCGACGC chr3:49941754-Variant-C;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Variant C ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CGCGAAGACATC CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtCatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAAcgcgaagacatcAGATCGAGACCCGACGC chr3:49941754-Variant-C;Patient-86 chr3:49941754-TC DeNovo Patient-86 intergenic NA 0.000512821 0.18 5.47 -1.4 TRAIP 47761 Alternative G ggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgag CTCGGCCATTGT CGACGCGGTCTCTCTCTggattgtgtggaagaccagaggggagatgtggggcacttacaagagatgtGatggggcgccaccctttgtgggaaaggactgtccttttttttttttgagAGAGGGAGACGGACGTCTCAATAActcggccattgtAGATCGAGACCCGACGC chr3:49941754-Alternative-G;Patient-86 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative G tctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GCGGCATGTTCA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAgcggcatgttcaAGATCGAGACCCGACGC chr3:50205329-Alternative-G;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative G tctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CTGAGATACGTT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAActgagatacgttAGATCGAGACCCGACGC chr3:50205329-Alternative-G;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative G tctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag AGTTGTGACGTT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAagttgtgacgttAGATCGAGACCCGACGC chr3:50205329-Alternative-G;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative G tctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CAGGACGTACGA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcaggacgtacgaAGATCGAGACCCGACGC chr3:50205329-Alternative-G;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative G tctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GGTGACGGAACT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatGtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAggtgacggaactAGATCGAGACCCGACGC chr3:50205329-Alternative-G;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Reference T tctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CGACTGACACGT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcgactgacacgtAGATCGAGACCCGACGC chr3:50205329-Reference-T;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Reference T tctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CAAGCTACGTCG CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcaagctacgtcgAGATCGAGACCCGACGC chr3:50205329-Reference-T;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Reference T tctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GCAGTCGCTAGT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAgcagtcgctagtAGATCGAGACCCGACGC chr3:50205329-Reference-T;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Reference T tctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GAGCATTCAATC CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAgagcattcaatcAGATCGAGACCCGACGC chr3:50205329-Reference-T;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Variant A tctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GTGAGCGGTCTA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAgtgagcggtctaAGATCGAGACCCGACGC chr3:50205329-Variant-A;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Variant A tctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CGCCTTACGTGA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcgccttacgtgaAGATCGAGACCCGACGC chr3:50205329-Variant-A;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Variant A tctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag GGAACTCCACGA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAggaactccacgaAGATCGAGACCCGACGC chr3:50205329-Variant-A;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Reference T tctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CAACGTAAGAGT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatTtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcaacgtaagagtAGATCGAGACCCGACGC chr3:50205329-Reference-T;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative C tctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag ATCATCGTTGAG CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAatcatcgttgagAGATCGAGACCCGACGC chr3:50205329-Alternative-C;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative C tctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag AACGCCGCGATA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAaacgccgcgataAGATCGAGACCCGACGC chr3:50205329-Alternative-C;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Variant A tctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CTTGACCGACGA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAActtgaccgacgaAGATCGAGACCCGACGC chr3:50205329-Variant-A;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative C tctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CGACTGAAGTAT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcgactgaagtatAGATCGAGACCCGACGC chr3:50205329-Alternative-C;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Variant A tctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag ACGTCGAGTATT CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatAtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAacgtcgagtattAGATCGAGACCCGACGC chr3:50205329-Variant-A;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative C tctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag CGTGTCTCGTAC CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAcgtgtctcgtacAGATCGAGACCCGACGC chr3:50205329-Alternative-C;Patient-55 chr3:50205329-TA Inherited Patient-55 intronic SEMA3F 6.4e-05 4.95e-05 0.24 6.36 -0.33 SEMA3F 12480 Alternative C tctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccag AGGCACGCACTA CGACGCGGTCTCTCTCTtctggccttcggttcctctgctctggaggagccaacatttcccaccacatCtcctagagtggcagctctaggtggtgaaatacggtaactgggtccccagAGAGGGAGACGGACGTCTCAATAAaggcacgcactaAGATCGAGACCCGACGC chr3:50205329-Alternative-C;Patient-55 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative C aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GGCTTGATCGGT CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAggcttgatcggtAGATCGAGACCCGACGC chr3:50218715-Alternative-C;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative T aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GAGATACTACGA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgagatactacgaAGATCGAGACCCGACGC chr3:50218715-Alternative-T;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Reference G aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GATTCATACGCA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgattcatacgcaAGATCGAGACCCGACGC chr3:50218715-Reference-G;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Reference G aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttcc CGCCACGTTCAT CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcgccacgttcatAGATCGAGACCCGACGC chr3:50218715-Reference-G;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative T aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GGACGAACTCAA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAggacgaactcaaAGATCGAGACCCGACGC chr3:50218715-Alternative-T;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Variant A aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttcc GATATGCGCGAC CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgatatgcgcgacAGATCGAGACCCGACGC chr3:50218715-Variant-A;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Variant A aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttcc ACGCGACGGTAA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAacgcgacggtaaAGATCGAGACCCGACGC chr3:50218715-Variant-A;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Variant A aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttcc ACCGTCATTGAA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAaccgtcattgaaAGATCGAGACCCGACGC chr3:50218715-Variant-A;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Reference G aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttcc CGCATAAGAGGT CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcgcataagaggtAGATCGAGACCCGACGC chr3:50218715-Reference-G;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Reference G aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GATAAGATCCGA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgataagatccgaAGATCGAGACCCGACGC chr3:50218715-Reference-G;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Variant A aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttcc GTGTTACAACCA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgtgttacaaccaAGATCGAGACCCGACGC chr3:50218715-Variant-A;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Variant A aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttcc CACGGTGTCGAT CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaActatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcacggtgtcgatAGATCGAGACCCGACGC chr3:50218715-Variant-A;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative C aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttcc CATGTGAGCGCT CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcatgtgagcgctAGATCGAGACCCGACGC chr3:50218715-Alternative-C;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative C aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttcc CATGAGACACCG CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcatgagacaccgAGATCGAGACCCGACGC chr3:50218715-Alternative-C;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Reference G aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttcc CGAAGAGTTAAC CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaGctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAcgaagagttaacAGATCGAGACCCGACGC chr3:50218715-Reference-G;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative T aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttcc ACCTACTACGAA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAacctactacgaaAGATCGAGACCCGACGC chr3:50218715-Alternative-T;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative T aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GACTGAACGCAG CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgactgaacgcagAGATCGAGACCCGACGC chr3:50218715-Alternative-T;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative T aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttcc ATAGTGGACGGC CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaTctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAatagtggacggcAGATCGAGACCCGACGC chr3:50218715-Alternative-T;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative C aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttcc AGAACGCTGTGG CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAagaacgctgtggAGATCGAGACCCGACGC chr3:50218715-Alternative-C;Patient-37 chr3:50218715-GA DeNovo Patient-37 intronic SEMA3F NA 4.95e-05 0.14 4.9 0.05 SEMA3F 25866 Alternative C aactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttcc GCCTTATAGTCA CGACGCGGTCTCTCTCTaactgaggtgtgcatatgcttcctaattctttcactacactttattgttaCctatgctctttttttgtttttttgtgttttttttttttatttttgttccAGAGGGAGACGGACGTCTCAATAAgccttatagtcaAGATCGAGACCCGACGC chr3:50218715-Alternative-C;Patient-37 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Variant G cggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataa ACGCTTGTAACA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAacgcttgtaacaAGATCGAGACCCGACGC chr3:5032398-Variant-G;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative T cggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataa GATCGACGTAGG CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgatcgacgtaggAGATCGAGACCCGACGC chr3:5032398-Alternative-T;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Variant G cggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataa CGGTAAGCAAGT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAcggtaagcaagtAGATCGAGACCCGACGC chr3:5032398-Variant-G;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative T cggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataa GTCGTCTAACGG CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgtcgtctaacggAGATCGAGACCCGACGC chr3:5032398-Alternative-T;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Variant G cggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataa CATGCGATAGCT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAcatgcgatagctAGATCGAGACCCGACGC chr3:5032398-Variant-G;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative C cggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataa ACGGCGGATCAA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAacggcggatcaaAGATCGAGACCCGACGC chr3:5032398-Alternative-C;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative T cggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataa CTCGGAACGAAG CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAActcggaacgaagAGATCGAGACCCGACGC chr3:5032398-Alternative-T;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative T cggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataa CACAGACGGAAC CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAcacagacggaacAGATCGAGACCCGACGC chr3:5032398-Alternative-T;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Reference A cggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataa CGGTGTTAGTAA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAcggtgttagtaaAGATCGAGACCCGACGC chr3:5032398-Reference-A;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Variant G cggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataa GTAGAAGCTAGA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgtagaagctagaAGATCGAGACCCGACGC chr3:5032398-Variant-G;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Reference A cggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataa AGACCGAGAATC CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAagaccgagaatcAGATCGAGACCCGACGC chr3:5032398-Reference-A;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative T cggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataa GATTAGCACGAG CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaTtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgattagcacgagAGATCGAGACCCGACGC chr3:5032398-Alternative-T;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Variant G cggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataa ATCGGTTGTATC CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaGtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAatcggttgtatcAGATCGAGACCCGACGC chr3:5032398-Variant-G;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative C cggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataa GCGTGAACATAA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgcgtgaacataaAGATCGAGACCCGACGC chr3:5032398-Alternative-C;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative C cggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataa GTTCGTGGCGTT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgttcgtggcgttAGATCGAGACCCGACGC chr3:5032398-Alternative-C;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Reference A cggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataa GATTCGTATGGT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgattcgtatggtAGATCGAGACCCGACGC chr3:5032398-Reference-A;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Reference A cggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataa ACTGGCGAGTCA CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAactggcgagtcaAGATCGAGACCCGACGC chr3:5032398-Reference-A;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Reference A cggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataa GCGAATTGACTT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaAtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgcgaattgacttAGATCGAGACCCGACGC chr3:5032398-Reference-A;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative C cggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataa GATATTCGACGT CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgatattcgacgtAGATCGAGACCCGACGC chr3:5032398-Alternative-C;Patient-91 chr3:5032398-AG DeNovo Patient-91 intergenic NA 0.000513 0.18 5.5 1.77 BHLHE40 11300 Alternative C cggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataa GTGCTTCGCATC CGACGCGGTCTCTCTCTcggttccactcatatgaaatatacagaataaataaatccatagagacacaCtacagactgatggttgccaagggatgagggagggagacaatgggaataaAGAGGGAGACGGACGTCTCAATAAgtgcttcgcatcAGATCGAGACCCGACGC chr3:5032398-Alternative-C;Patient-91 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative C tttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttct GCGAGAGTATGC CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAgcgagagtatgcAGATCGAGACCCGACGC chr3:50715324-Alternative-C;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative C tttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CATCCATTAGTC CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAcatccattagtcAGATCGAGACCCGACGC chr3:50715324-Alternative-C;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative C tttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttct GACTACGACGAG CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAgactacgacgagAGATCGAGACCCGACGC chr3:50715324-Alternative-C;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative C tttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttct ATACGAACGCGC CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAatacgaacgcgcAGATCGAGACCCGACGC chr3:50715324-Alternative-C;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative C tttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttct ACGGTCGGCTAT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattCtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAacggtcggctatAGATCGAGACCCGACGC chr3:50715324-Alternative-C;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Variant A tttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttct GATGACCTCGGT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAgatgacctcggtAGATCGAGACCCGACGC chr3:50715324-Variant-A;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Variant A tttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttct AGGTTGGATCTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAaggttggatcttAGATCGAGACCCGACGC chr3:50715324-Variant-A;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Variant A tttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttct ATAGGCGATCTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAataggcgatcttAGATCGAGACCCGACGC chr3:50715324-Variant-A;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Variant A tttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CGGTATGCCGTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAcggtatgccgttAGATCGAGACCCGACGC chr3:50715324-Variant-A;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Variant A tttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CGTCGACGTAGT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattAtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAcgtcgacgtagtAGATCGAGACCCGACGC chr3:50715324-Variant-A;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative T tttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CGCGTTATCCGT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAcgcgttatccgtAGATCGAGACCCGACGC chr3:50715324-Alternative-T;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative T tttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttct ACGGTCGAATAA CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAacggtcgaataaAGATCGAGACCCGACGC chr3:50715324-Alternative-T;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative T tttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttct AACGGCTGTTCG CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAaacggctgttcgAGATCGAGACCCGACGC chr3:50715324-Alternative-T;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative T tttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CGTAACCAACTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAcgtaaccaacttAGATCGAGACCCGACGC chr3:50715324-Alternative-T;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Reference G tttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttct GTGTCTTGACTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAgtgtcttgacttAGATCGAGACCCGACGC chr3:50715324-Reference-G;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Reference G tttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttct AGTCGTCCGGTT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAagtcgtccggttAGATCGAGACCCGACGC chr3:50715324-Reference-G;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Reference G tttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttct CTCGGAGTACGT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAActcggagtacgtAGATCGAGACCCGACGC chr3:50715324-Reference-G;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Reference G tttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttct AGTATTACGTCG CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAagtattacgtcgAGATCGAGACCCGACGC chr3:50715324-Reference-G;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Alternative T tttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttct ACACCGGATGGT CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattTtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAacaccggatggtAGATCGAGACCCGACGC chr3:50715324-Alternative-T;Patient-55 chr3:50715324-GA Inherited Patient-55 intronic DOCK3 0.000159 4.95e-05 -0.23 0.58 -0.73 DOCK3 2651 Reference G tttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttct GCAGAACGAACC CGACGCGGTCTCTCTCTtttggtttattcatttaggatgaggtgatgactgagcccccctttccattGtaatattctgtgagtgattttaggcagtggggaggacattatcctttctAGAGGGAGACGGACGTCTCAATAAgcagaacgaaccAGATCGAGACCCGACGC chr3:50715324-Reference-G;Patient-55 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Reference A ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagt ACAGATCGTGCG CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAacagatcgtgcgAGATCGAGACCCGACGC chr3:51355302-Reference-A;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative C ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagt AAGTCTATCGGC CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAaagtctatcggcAGATCGAGACCCGACGC chr3:51355302-Alternative-C;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Reference A ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagt GATACCGTCAGT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAgataccgtcagtAGATCGAGACCCGACGC chr3:51355302-Reference-A;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative C ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagt GATACTATCGAC CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAgatactatcgacAGATCGAGACCCGACGC chr3:51355302-Alternative-C;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative C ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagt CACACGTACCGT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcacacgtaccgtAGATCGAGACCCGACGC chr3:51355302-Alternative-C;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative C ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagt ACACAGCGACAT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAacacagcgacatAGATCGAGACCCGACGC chr3:51355302-Alternative-C;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Reference A ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagt AAGTCTAGTACC CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAaagtctagtaccAGATCGAGACCCGACGC chr3:51355302-Reference-A;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Variant T ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagt ATAAGCGACAGG CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAataagcgacaggAGATCGAGACCCGACGC chr3:51355302-Variant-T;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative G ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagt ACTGGTCGGACA CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAactggtcggacaAGATCGAGACCCGACGC chr3:51355302-Alternative-G;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Variant T ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagt CGACTAAGTAAC CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcgactaagtaacAGATCGAGACCCGACGC chr3:51355302-Variant-T;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative G ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagt GACCTTGACCTA CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAgaccttgacctaAGATCGAGACCCGACGC chr3:51355302-Alternative-G;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative G ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagt CTTGAACCTCAT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAActtgaacctcatAGATCGAGACCCGACGC chr3:51355302-Alternative-G;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative G ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagt AAGACGAGTGTT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAaagacgagtgttAGATCGAGACCCGACGC chr3:51355302-Alternative-G;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Variant T ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagt AGGTGAGCGATA CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAaggtgagcgataAGATCGAGACCCGACGC chr3:51355302-Variant-T;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative G ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagt CGGTGCCGTAAT CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttGttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcggtgccgtaatAGATCGAGACCCGACGC chr3:51355302-Alternative-G;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Alternative C ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagt CGTAATGAGTCA CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttCttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcgtaatgagtcaAGATCGAGACCCGACGC chr3:51355302-Alternative-C;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Variant T ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagt CACGTAGAAGCA CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcacgtagaagcaAGATCGAGACCCGACGC chr3:51355302-Variant-T;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Reference A ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagt CGAAGTCGTAAG CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAcgaagtcgtaagAGATCGAGACCCGACGC chr3:51355302-Reference-A;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Variant T ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagt AGTCGAAGTCGG CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttTttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAagtcgaagtcggAGATCGAGACCCGACGC chr3:51355302-Variant-T;Patient-82 chr3:51355302-AT DeNovo Patient-82 intronic DOCK3 NA 4.95e-05 0.04 3.35 -0.62 RBM15B 73396 Reference A ttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagt GGCAGTAGGTAC CGACGCGGTCTCTCTCTttgtgtgaatctctttctagactctagtccttccgtagatcagtatgtttAttctttcatcaataccacgctatcttattatagtagctttatagttagtAGAGGGAGACGGACGTCTCAATAAggcagtaggtacAGATCGAGACCCGACGC chr3:51355302-Reference-A;Patient-82 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Reference G tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag GGACGTCCTAGT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAggacgtcctagtAGATCGAGACCCGACGC chr3:5141880-Reference-G;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative T tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag ATAGTGCACGTC CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAatagtgcacgtcAGATCGAGACCCGACGC chr3:5141880-Alternative-T;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Reference G tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag ACTGAAGGACGG CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAactgaaggacggAGATCGAGACCCGACGC chr3:5141880-Reference-G;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative T tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CTGAAGCGTACG CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAActgaagcgtacgAGATCGAGACCCGACGC chr3:5141880-Alternative-T;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Variant A tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag AGGTAACGGATT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAaggtaacggattAGATCGAGACCCGACGC chr3:5141880-Variant-A;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Reference G tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag GACGATCCGGAT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAgacgatccggatAGATCGAGACCCGACGC chr3:5141880-Reference-G;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Reference G tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CGGCCATACACT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAcggccatacactAGATCGAGACCCGACGC chr3:5141880-Reference-G;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Reference G tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag AAGCACGGAATC CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcGggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAaagcacggaatcAGATCGAGACCCGACGC chr3:5141880-Reference-G;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative T tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CTCTCGAACGAT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAActctcgaacgatAGATCGAGACCCGACGC chr3:5141880-Alternative-T;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Variant A tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CGCGTAGTGTGA CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAcgcgtagtgtgaAGATCGAGACCCGACGC chr3:5141880-Variant-A;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Variant A tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag GATGCTTGATCA CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAgatgcttgatcaAGATCGAGACCCGACGC chr3:5141880-Variant-A;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative T tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag AACGTTGCACAT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAaacgttgcacatAGATCGAGACCCGACGC chr3:5141880-Alternative-T;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative T tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CACACGATCACA CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcTggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAcacacgatcacaAGATCGAGACCCGACGC chr3:5141880-Alternative-T;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Variant A tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CTACCGATTAGG CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAActaccgattaggAGATCGAGACCCGACGC chr3:5141880-Variant-A;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative C tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag AAGACCTACCGG CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAaagacctaccggAGATCGAGACCCGACGC chr3:5141880-Alternative-C;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative C tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CGGAATGTGCGT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAcggaatgtgcgtAGATCGAGACCCGACGC chr3:5141880-Alternative-C;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Variant A tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CTTATGCCGTCG CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcAggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAActtatgccgtcgAGATCGAGACCCGACGC chr3:5141880-Variant-A;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative C tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag AGACGCGTGCTT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAagacgcgtgcttAGATCGAGACCCGACGC chr3:5141880-Alternative-C;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative C tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag CGCGTGATCTTC CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAcgcgtgatcttcAGATCGAGACCCGACGC chr3:5141880-Alternative-C;Patient-63 chr3:5141880-GA Inherited Patient-63 intergenic 0.000127 0.000513 -0.4 0.18 -1.29 EDEM1 87478 Alternative C tataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcag ACTAGATGCTGT CGACGCGGTCTCTCTCTtataaaaattagccgggcatggtggcacatgcctgtaattccagctactcCggaggttgaggcaggagaatcactcaaacccaggaggcggaggttgcagAGAGGGAGACGGACGTCTCAATAAactagatgctgtAGATCGAGACCCGACGC chr3:5141880-Alternative-C;Patient-63 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative A ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CGTAATAGCCAT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAcgtaatagccatAGATCGAGACCCGACGC chr3:5219301-Alternative-A;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Variant T ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggcca GCACCATCGCTT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAgcaccatcgcttAGATCGAGACCCGACGC chr3:5219301-Variant-T;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Variant T ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggcca ATACTTGTCGAG CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAatacttgtcgagAGATCGAGACCCGACGC chr3:5219301-Variant-T;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative A ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CTACACAGACTA CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAActacacagactaAGATCGAGACCCGACGC chr3:5219301-Alternative-A;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Reference C ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CGCTAGACAACT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAcgctagacaactAGATCGAGACCCGACGC chr3:5219301-Reference-C;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Variant T ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggcca GCGTGTATGTGC CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAgcgtgtatgtgcAGATCGAGACCCGACGC chr3:5219301-Variant-T;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative G ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CAACGTCAAGCG CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAcaacgtcaagcgAGATCGAGACCCGACGC chr3:5219301-Alternative-G;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative G ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CATCATTCTCCT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAcatcattctcctAGATCGAGACCCGACGC chr3:5219301-Alternative-G;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative G ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggcca AGGCAGTTCCGT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAaggcagttccgtAGATCGAGACCCGACGC chr3:5219301-Alternative-G;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative A ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggcca GGCTCGAAGTTA CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAggctcgaagttaAGATCGAGACCCGACGC chr3:5219301-Alternative-A;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative G ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggcca AGCGTGACGTTC CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAagcgtgacgttcAGATCGAGACCCGACGC chr3:5219301-Alternative-G;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative A ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CTGCTGCATTCG CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAActgctgcattcgAGATCGAGACCCGACGC chr3:5219301-Alternative-A;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Reference C ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggcca GGATACTTCAGA CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAggatacttcagaAGATCGAGACCCGACGC chr3:5219301-Reference-C;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Reference C ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggcca GCGTAAGCAAGT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAgcgtaagcaagtAGATCGAGACCCGACGC chr3:5219301-Reference-C;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Reference C ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CTTAGACTAACG CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAActtagactaacgAGATCGAGACCCGACGC chr3:5219301-Reference-C;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Variant T ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggcca AGGTGGTCGTTC CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAaggtggtcgttcAGATCGAGACCCGACGC chr3:5219301-Variant-T;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative A ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggcca ACGAGCGCAATC CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctAggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAacgagcgcaatcAGATCGAGACCCGACGC chr3:5219301-Alternative-A;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Variant T ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggcca ACGGCGATCGTT CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctTggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAacggcgatcgttAGATCGAGACCCGACGC chr3:5219301-Variant-T;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Reference C ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggcca AGCAGTATACGA CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctCggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAagcagtatacgaAGATCGAGACCCGACGC chr3:5219301-Reference-C;Patient-59 chr3:5219301-CT Inherited Patient-59 intronic ARL8B NA 9.9e-05 -0.28 0.41 -0.71 EDEM1 10057 Alternative G ctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggcca CAACGAGTTAAC CGACGCGGTCTCTCTCTctgcctcagcctcccgagtagctgggattacaggcgcccgctgccgtgctGggctaatttttgtatttttagtagagatggggtttcaccatgttggccaAGAGGGAGACGGACGTCTCAATAAcaacgagttaacAGATCGAGACCCGACGC chr3:5219301-Alternative-G;Patient-59 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative C gcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttattt CTTAGTTGGTCT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAActtagttggtctAGATCGAGACCCGACGC chr3:57538241-Alternative-C;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative C gcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ATCCTGGTAACA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAatcctggtaacaAGATCGAGACCCGACGC chr3:57538241-Alternative-C;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative C gcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACACCACGAATT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacaccacgaattAGATCGAGACCCGACGC chr3:57538241-Alternative-C;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Reference T gcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttattt GATTCGAGCGTC CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAgattcgagcgtcAGATCGAGACCCGACGC chr3:57538241-Reference-T;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative A gcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACGCGAAGACGA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacgcgaagacgaAGATCGAGACCCGACGC chr3:57538241-Alternative-A;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Variant G gcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttattt GTAACGTGTAGA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAgtaacgtgtagaAGATCGAGACCCGACGC chr3:57538241-Variant-G;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Reference T gcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttattt GTACGCAATACG CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAgtacgcaatacgAGATCGAGACCCGACGC chr3:57538241-Reference-T;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Variant G gcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACTTGAGCATGT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacttgagcatgtAGATCGAGACCCGACGC chr3:57538241-Variant-G;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Reference T gcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttattt AATGCGCGAATA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAaatgcgcgaataAGATCGAGACCCGACGC chr3:57538241-Reference-T;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative A gcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttattt CGGAACAGCGAT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAcggaacagcgatAGATCGAGACCCGACGC chr3:57538241-Alternative-A;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Reference T gcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttattt GGACATAAGACG CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAggacataagacgAGATCGAGACCCGACGC chr3:57538241-Reference-T;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Reference T gcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttattt CACATAGGTAGA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattTcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAcacataggtagaAGATCGAGACCCGACGC chr3:57538241-Reference-T;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Variant G gcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttattt CTAGTCATCGAA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAActagtcatcgaaAGATCGAGACCCGACGC chr3:57538241-Variant-G;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative A gcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttattt AGAACGGATGAT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAagaacggatgatAGATCGAGACCCGACGC chr3:57538241-Alternative-A;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative C gcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACGAGATACAAC CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacgagatacaacAGATCGAGACCCGACGC chr3:57538241-Alternative-C;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Variant G gcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttattt AGGTTAAGGTCA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAaggttaaggtcaAGATCGAGACCCGACGC chr3:57538241-Variant-G;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Variant G gcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACACGCGCTGTT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattGcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacacgcgctgttAGATCGAGACCCGACGC chr3:57538241-Variant-G;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative A gcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttattt ACGCCTAACATT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAacgcctaacattAGATCGAGACCCGACGC chr3:57538241-Alternative-A;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative C gcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttattt GTAGTGCTCGGT CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattCcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAgtagtgctcggtAGATCGAGACCCGACGC chr3:57538241-Alternative-C;Patient-110 chr3:57538241-TG DeNovo Patient-110 intergenic NA 3.98e-05 -0.02 2.39 0.41 ARF4 44973 Alternative A gcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttattt CGTCCAGCGATA CGACGCGGTCTCTCTCTgcttatcccattcacagttatctaatttacttgttcttaacaactgtattAcatttgcttatggaaagcaaaactagccatttatgttatttatttatttAGAGGGAGACGGACGTCTCAATAAcgtccagcgataAGATCGAGACCCGACGC chr3:57538241-Alternative-A;Patient-110 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Reference G gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CGTGGACGATGA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcgtggacgatgaAGATCGAGACCCGACGC chr3:58533234-Reference-G;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative C gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttg AATCGGATGTGA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAaatcggatgtgaAGATCGAGACCCGACGC chr3:58533234-Alternative-C;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative T gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CAAGCAGCATAA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcaagcagcataaAGATCGAGACCCGACGC chr3:58533234-Alternative-T;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Reference G gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttg GCGTTGACGGTT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAgcgttgacggttAGATCGAGACCCGACGC chr3:58533234-Reference-G;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Variant A gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttg CAGTCGATAGAA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcagtcgatagaaAGATCGAGACCCGACGC chr3:58533234-Variant-A;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative T gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttg AATGCTTGCGGC CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAaatgcttgcggcAGATCGAGACCCGACGC chr3:58533234-Alternative-T;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative T gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CGCAGATTGATT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcgcagattgattAGATCGAGACCCGACGC chr3:58533234-Alternative-T;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative T gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CATCTCATAGCT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcatctcatagctAGATCGAGACCCGACGC chr3:58533234-Alternative-T;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative C gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttg ACTGTCATCGTT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAactgtcatcgttAGATCGAGACCCGACGC chr3:58533234-Alternative-C;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Variant A gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttg GTGAATTCGGAA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAgtgaattcggaaAGATCGAGACCCGACGC chr3:58533234-Variant-A;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative T gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CTCGCTTGACCA CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatTctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAActcgcttgaccaAGATCGAGACCCGACGC chr3:58533234-Alternative-T;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Variant A gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttg CGTCGATAGCGT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcgtcgatagcgtAGATCGAGACCCGACGC chr3:58533234-Variant-A;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Reference G gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttg ACCTCCGGATGT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAacctccggatgtAGATCGAGACCCGACGC chr3:58533234-Reference-G;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Reference G gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttg GACCTACACGGT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAgacctacacggtAGATCGAGACCCGACGC chr3:58533234-Reference-G;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Variant A gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttg ATTGTCTACGAG CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAattgtctacgagAGATCGAGACCCGACGC chr3:58533234-Variant-A;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Variant A gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttg CGTCGGAACAGT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatActttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcgtcggaacagtAGATCGAGACCCGACGC chr3:58533234-Variant-A;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Reference G gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttg AGAGCATTGACT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatGctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAagagcattgactAGATCGAGACCCGACGC chr3:58533234-Reference-G;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative C gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttg GGCAATCGGTTC CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAggcaatcggttcAGATCGAGACCCGACGC chr3:58533234-Alternative-C;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative C gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttg GAGTACGCTCGT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAgagtacgctcgtAGATCGAGACCCGACGC chr3:58533234-Alternative-C;Patient-58 chr3:58533234-GA DeNovo Patient-58 intergenic 0.000127 0.00103 1.2 14.44 0.11 ACOX2 10304 Alternative C gatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttg CGGATCGTAATT CGACGCGGTCTCTCTCTgatgttaggttgttaatttgagatctatgtttttgaggcaggtatttaatCctttatattttcctcttagtactgcttttgttgtatctcagaggctttgAGAGGGAGACGGACGTCTCAATAAcggatcgtaattAGATCGAGACCCGACGC chr3:58533234-Alternative-C;Patient-58 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Reference C cggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GGAGTTGGTATA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAggagttggtataAGATCGAGACCCGACGC chr3:61561586-Reference-C;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Reference C cggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtg CAAGGTAGACGT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAcaaggtagacgtAGATCGAGACCCGACGC chr3:61561586-Reference-C;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative A cggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GACTGACATCAT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgactgacatcatAGATCGAGACCCGACGC chr3:61561586-Alternative-A;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative A cggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GTGCGATAACGG CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgtgcgataacggAGATCGAGACCCGACGC chr3:61561586-Alternative-A;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Reference C cggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GCAAGAACGCAT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgcaagaacgcatAGATCGAGACCCGACGC chr3:61561586-Reference-C;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Reference C cggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GGTTCGAACGTC CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAggttcgaacgtcAGATCGAGACCCGACGC chr3:61561586-Reference-C;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative G cggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GTGACTTCGAGA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgtgacttcgagaAGATCGAGACCCGACGC chr3:61561586-Alternative-G;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative A cggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GTGTCTCTGTCG CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgtgtctctgtcgAGATCGAGACCCGACGC chr3:61561586-Alternative-A;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative G cggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GGTTGCGGAGAA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAggttgcggagaaAGATCGAGACCCGACGC chr3:61561586-Alternative-G;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Reference C cggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GACCTTAGCTAA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccCggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgaccttagctaaAGATCGAGACCCGACGC chr3:61561586-Reference-C;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative A cggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GGATAGTGTTCT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAggatagtgttctAGATCGAGACCCGACGC chr3:61561586-Alternative-A;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative G cggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtg CGTGGAACTAAC CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAcgtggaactaacAGATCGAGACCCGACGC chr3:61561586-Alternative-G;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Variant T cggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GCCACTTAACAG CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgccacttaacagAGATCGAGACCCGACGC chr3:61561586-Variant-T;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative G cggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtg ATCAACGAGAGT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAatcaacgagagtAGATCGAGACCCGACGC chr3:61561586-Alternative-G;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Variant T cggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtg CGGAGATCAATA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAcggagatcaataAGATCGAGACCCGACGC chr3:61561586-Variant-T;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative A cggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtg AGATATCGACGC CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccAggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAagatatcgacgcAGATCGAGACCCGACGC chr3:61561586-Alternative-A;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Variant T cggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GACGCGACATCA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgacgcgacatcaAGATCGAGACCCGACGC chr3:61561586-Variant-T;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Variant T cggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtg CGTCGCATGAGT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAcgtcgcatgagtAGATCGAGACCCGACGC chr3:61561586-Variant-T;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Variant T cggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GCGAGCATACGA CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccTggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgcgagcatacgaAGATCGAGACCCGACGC chr3:61561586-Variant-T;Patient-83 chr3:61561586-CT DeNovo Patient-83 intronic PTPRG 6.4e-05 4.95e-05 -0.59 0.04 -1.39 PTPRG 14342 Alternative G cggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtg GATCGTGCTAAT CGACGCGGTCTCTCTCTcggccttccaaagtgctggagctgatattatagacatgagccactgtgccGggctggcacacaaaattttataaatggtacctgtttttaatagccagtgAGAGGGAGACGGACGTCTCAATAAgatcgtgctaatAGATCGAGACCCGACGC chr3:61561586-Alternative-G;Patient-83 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative C cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatat CGCGCATCTATC CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAcgcgcatctatcAGATCGAGACCCGACGC chr3:61622767-Alternative-C;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative C cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatat CGGTAATCAACA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAcggtaatcaacaAGATCGAGACCCGACGC chr3:61622767-Alternative-C;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative C cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatat GCAAGATGTGCG CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAgcaagatgtgcgAGATCGAGACCCGACGC chr3:61622767-Alternative-C;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative C cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatat CGCCTATCGCTT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAcgcctatcgcttAGATCGAGACCCGACGC chr3:61622767-Alternative-C;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative C cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatat GAGCATGGTAGA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaCccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAgagcatggtagaAGATCGAGACCCGACGC chr3:61622767-Alternative-C;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Reference G cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatat AGCAACGAACGA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAagcaacgaacgaAGATCGAGACCCGACGC chr3:61622767-Reference-G;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Variant A cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatat GGTGAGTGAATA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAggtgagtgaataAGATCGAGACCCGACGC chr3:61622767-Variant-A;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Variant A cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatat GGAATACGGTAT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAggaatacggtatAGATCGAGACCCGACGC chr3:61622767-Variant-A;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Reference G cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatat CGTCGTGTACCT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAcgtcgtgtacctAGATCGAGACCCGACGC chr3:61622767-Reference-G;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Reference G cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatat ACGCATACTCCT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAacgcatactcctAGATCGAGACCCGACGC chr3:61622767-Reference-G;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Variant A cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatat GCAAGTAGTAAC CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAgcaagtagtaacAGATCGAGACCCGACGC chr3:61622767-Variant-A;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Reference G cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatat AATAATCACGCG CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAaataatcacgcgAGATCGAGACCCGACGC chr3:61622767-Reference-G;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Reference G cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatat CTTGGTTCATCA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaGccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAActtggttcatcaAGATCGAGACCCGACGC chr3:61622767-Reference-G;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Variant A cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatat CTTACATCGTGC CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAActtacatcgtgcAGATCGAGACCCGACGC chr3:61622767-Variant-A;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Variant A cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatat AACGACGCACGT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaAccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAaacgacgcacgtAGATCGAGACCCGACGC chr3:61622767-Variant-A;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative T cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatat CGATACCACGGT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAcgataccacggtAGATCGAGACCCGACGC chr3:61622767-Alternative-T;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative T cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatat AGCAACGGCACA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAagcaacggcacaAGATCGAGACCCGACGC chr3:61622767-Alternative-T;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative T cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatat CTCTACTCGGCA CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAActctactcggcaAGATCGAGACCCGACGC chr3:61622767-Alternative-T;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative T cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatat CTAGTTGCTCAT CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAActagttgctcatAGATCGAGACCCGACGC chr3:61622767-Alternative-T;Patient-99 chr3:61622767-GA DeNovo Patient-99 intronic PTPRG NA 4.95e-05 0.31 7.35 3.34 PTPRG 75523 Alternative T cctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatat ACTTACCGTAAG CGACGCGGTCTCTCTCTcctctctgccacatagcttattgctgtggaggaaagagagtcttctcttaTccattgttctgtgtggagttggcggactaacacatttttatattcatatAGAGGGAGACGGACGTCTCAATAAacttaccgtaagAGATCGAGACCCGACGC chr3:61622767-Alternative-T;Patient-99 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative G ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GTACCTGTAACC CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgtacctgtaaccAGATCGAGACCCGACGC chr3:66001081-Alternative-G;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Variant A ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GTGTAGCGACGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgtgtagcgacgaAGATCGAGACCCGACGC chr3:66001081-Variant-A;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative G ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GGACATAGTAGT CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAggacatagtagtAGATCGAGACCCGACGC chr3:66001081-Alternative-G;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative T ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag CTATCCGACGAA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAActatccgacgaaAGATCGAGACCCGACGC chr3:66001081-Alternative-T;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative T ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GCGTAAGCAGCA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgcgtaagcagcaAGATCGAGACCCGACGC chr3:66001081-Alternative-T;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative G ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag CTATCGATTGTC CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAActatcgattgtcAGATCGAGACCCGACGC chr3:66001081-Alternative-G;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Variant A ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GTATCTTCCGCG CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgtatcttccgcgAGATCGAGACCCGACGC chr3:66001081-Variant-A;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Variant A ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GTGAGACAACGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgtgagacaacgaAGATCGAGACCCGACGC chr3:66001081-Variant-A;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative G ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag AGGCTATAGAAG CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAaggctatagaagAGATCGAGACCCGACGC chr3:66001081-Alternative-G;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Variant A ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GGCGTACAAGAT CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAggcgtacaagatAGATCGAGACCCGACGC chr3:66001081-Variant-A;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative T ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag ACAAGCATGACA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAacaagcatgacaAGATCGAGACCCGACGC chr3:66001081-Alternative-T;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Reference C ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GGATCACGTCGT CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAggatcacgtcgtAGATCGAGACCCGACGC chr3:66001081-Reference-C;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Variant A ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacag ACGAGTTGGCGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagActgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAacgagttggcgaAGATCGAGACCCGACGC chr3:66001081-Variant-A;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Reference C ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag CGAATACGTAGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAcgaatacgtagaAGATCGAGACCCGACGC chr3:66001081-Reference-C;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Reference C ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GGCCAATCAAGG CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAggccaatcaaggAGATCGAGACCCGACGC chr3:66001081-Reference-C;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Reference C ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag AACGCGTGTACG CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAaacgcgtgtacgAGATCGAGACCCGACGC chr3:66001081-Reference-C;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative T ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag AGAGCTCCGCAA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAagagctccgcaaAGATCGAGACCCGACGC chr3:66001081-Alternative-T;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Reference C ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GTCTATTAACGC CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagCctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgtctattaacgcAGATCGAGACCCGACGC chr3:66001081-Reference-C;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative G ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GACGTCAGACGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagGctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgacgtcagacgaAGATCGAGACCCGACGC chr3:66001081-Alternative-G;Patient-89 chr3:66001081-CA Inherited Patient-89 intronic MAGI1 0.000255 0.000148471 -0.11 1.34 0.49 MAGI1 23427 Alternative T ggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacag GCGCTGTATCGA CGACGCGGTCTCTCTCTggcatccatttcctcattgataactgtggacgcagccaaccccctcccagTctgaacctaagaacctggtttgtttcccaactttgcctaccattaacagAGAGGGAGACGGACGTCTCAATAAgcgctgtatcgaAGATCGAGACCCGACGC chr3:66001081-Alternative-T;Patient-89 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative C gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt ACTTCTGAGTCT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAacttctgagtctAGATCGAGACCCGACGC chr3:66526281-Alternative-C;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative C gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt AGCATGTGGTGG CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAagcatgtggtggAGATCGAGACCCGACGC chr3:66526281-Alternative-C;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative C gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CGTTGTAACCTT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAcgttgtaaccttAGATCGAGACCCGACGC chr3:66526281-Alternative-C;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Variant G gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt ATCACGCATGAA CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAatcacgcatgaaAGATCGAGACCCGACGC chr3:66526281-Variant-G;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Variant G gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GACGATAGCCAT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAgacgatagccatAGATCGAGACCCGACGC chr3:66526281-Variant-G;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Variant G gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt AAGAACGACACT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAaagaacgacactAGATCGAGACCCGACGC chr3:66526281-Variant-G;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Variant G gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GGCGATTGCAAG CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAggcgattgcaagAGATCGAGACCCGACGC chr3:66526281-Variant-G;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Variant G gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt AATAACTGCGAG CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttGtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAaataactgcgagAGATCGAGACCCGACGC chr3:66526281-Variant-G;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative T gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GATTGTTGCTGA CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAgattgttgctgaAGATCGAGACCCGACGC chr3:66526281-Alternative-T;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative T gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CTGGCACAAGTC CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAActggcacaagtcAGATCGAGACCCGACGC chr3:66526281-Alternative-T;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Reference A gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CTCGCCTTCGAT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAActcgccttcgatAGATCGAGACCCGACGC chr3:66526281-Reference-A;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Reference A gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt AGACGACTGAAC CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAagacgactgaacAGATCGAGACCCGACGC chr3:66526281-Reference-A;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative T gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt ATATTCGGCACA CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAatattcggcacaAGATCGAGACCCGACGC chr3:66526281-Alternative-T;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative T gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GATGTTGGTGAA CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAgatgttggtgaaAGATCGAGACCCGACGC chr3:66526281-Alternative-T;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Reference A gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt AGCGGTGTAATT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAagcggtgtaattAGATCGAGACCCGACGC chr3:66526281-Reference-A;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative T gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CTCAATAGAGGT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttTtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAActcaatagaggtAGATCGAGACCCGACGC chr3:66526281-Alternative-T;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Reference A gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GGCGTACGCTAA CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAggcgtacgctaaAGATCGAGACCCGACGC chr3:66526281-Reference-A;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Reference A gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt GCCTGACACCTT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttAtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAgcctgacaccttAGATCGAGACCCGACGC chr3:66526281-Reference-A;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative C gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CTAACGGTGAAT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAActaacggtgaatAGATCGAGACCCGACGC chr3:66526281-Alternative-C;Patient-30 chr3:66526281-AG Inherited Patient-30 intronic LRIG1 NA 4.95e-05 NA NA NA LRIG1 24563 Alternative C gcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaatt CATTGGTTGCTT CGACGCGGTCTCTCTCTgcatgagacaaatggtaggcctgcccgtcacactactagtgtcaatatttCtctaaggcctgggtattcacgatggtataaaccaggcaccttttcaattAGAGGGAGACGGACGTCTCAATAAcattggttgcttAGATCGAGACCCGACGC chr3:66526281-Alternative-C;Patient-30 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Variant G gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GGTGTAGTTAAG CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAggtgtagttaagAGATCGAGACCCGACGC chr3:69785294-Variant-G;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Variant G gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GGCTTGGATAGG CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAggcttggataggAGATCGAGACCCGACGC chr3:69785294-Variant-G;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Variant G gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GGTTCAGCGAAC CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAggttcagcgaacAGATCGAGACCCGACGC chr3:69785294-Variant-G;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative T gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg ACGCTTATGAGT CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAacgcttatgagtAGATCGAGACCCGACGC chr3:69785294-Alternative-T;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative T gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GACCTCAATAGT CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAgacctcaatagtAGATCGAGACCCGACGC chr3:69785294-Alternative-T;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Variant G gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg CGAGAATAATCG CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAcgagaataatcgAGATCGAGACCCGACGC chr3:69785294-Variant-G;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Variant G gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg AATGCGGATAGA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacGctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAaatgcggatagaAGATCGAGACCCGACGC chr3:69785294-Variant-G;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative T gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg CACGATCTAGCA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAcacgatctagcaAGATCGAGACCCGACGC chr3:69785294-Alternative-T;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative T gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg AATCGATTGACC CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAaatcgattgaccAGATCGAGACCCGACGC chr3:69785294-Alternative-T;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative T gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg AATAGTAGCGCA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacTctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAaatagtagcgcaAGATCGAGACCCGACGC chr3:69785294-Alternative-T;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Reference A gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg CAGGATCGTAAC CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAcaggatcgtaacAGATCGAGACCCGACGC chr3:69785294-Reference-A;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Reference A gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg CTCTGAGCGCAT CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAActctgagcgcatAGATCGAGACCCGACGC chr3:69785294-Reference-A;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative C gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg ACACGGCTAACC CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAacacggctaaccAGATCGAGACCCGACGC chr3:69785294-Alternative-C;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative C gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GTCGATAGAGCG CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAgtcgatagagcgAGATCGAGACCCGACGC chr3:69785294-Alternative-C;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative C gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GTTGGTGAATGA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAgttggtgaatgaAGATCGAGACCCGACGC chr3:69785294-Alternative-C;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative C gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg CACTTACTTGGT CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAcacttacttggtAGATCGAGACCCGACGC chr3:69785294-Alternative-C;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Alternative C gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg ATATATGCGCCA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacCctgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAatatatgcgccaAGATCGAGACCCGACGC chr3:69785294-Alternative-C;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Reference A gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg AGGTGACGGCTA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAaggtgacggctaAGATCGAGACCCGACGC chr3:69785294-Reference-A;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Reference A gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg AGACGTAGAACG CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAagacgtagaacgAGATCGAGACCCGACGC chr3:69785294-Reference-A;Patient-92 chr3:69785294-AG Inherited Patient-92 intergenic 0.000319 0.00359 0.09 4.16 0.42 MITF 3291 Reference A gcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattg GATCGTCGGCAA CGACGCGGTCTCTCTCTgcaccaaaaatagctgttgagctaagaggatatgagagtacaaatcatacActgggtatctgctgcttagcattgctgctttatgtgtggtttctcattgAGAGGGAGACGGACGTCTCAATAAgatcgtcggcaaAGATCGAGACCCGACGC chr3:69785294-Reference-A;Patient-92 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Variant T tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AGACCAAGTCGC CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAagaccaagtcgcAGATCGAGACCCGACGC chr3:69801327-Variant-T;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative A tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CTGTTCGGTCGT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAActgttcggtcgtAGATCGAGACCCGACGC chr3:69801327-Alternative-A;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative A tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AGTAGCGACCTA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAagtagcgacctaAGATCGAGACCCGACGC chr3:69801327-Alternative-A;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Variant T tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AAGCACGACAGG CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAaagcacgacaggAGATCGAGACCCGACGC chr3:69801327-Variant-T;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative A tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CTAATCTCTCGA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAActaatctctcgaAGATCGAGACCCGACGC chr3:69801327-Alternative-A;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative A tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CGTGAGGTTCGT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAcgtgaggttcgtAGATCGAGACCCGACGC chr3:69801327-Alternative-A;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Reference C tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GACGATGAAGTT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAgacgatgaagttAGATCGAGACCCGACGC chr3:69801327-Reference-C;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative A tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AGGTTCACAATC CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcAggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAaggttcacaatcAGATCGAGACCCGACGC chr3:69801327-Alternative-A;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Reference C tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AACTCGGCACGT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAaactcggcacgtAGATCGAGACCCGACGC chr3:69801327-Reference-C;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative G tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GGTTCGACGAAG CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAggttcgacgaagAGATCGAGACCCGACGC chr3:69801327-Alternative-G;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Variant T tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GCGCATTCGTCA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAgcgcattcgtcaAGATCGAGACCCGACGC chr3:69801327-Variant-T;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Reference C tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CTCGTCATGTCG CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAActcgtcatgtcgAGATCGAGACCCGACGC chr3:69801327-Reference-C;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Variant T tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CGCGTCTAGCAA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAcgcgtctagcaaAGATCGAGACCCGACGC chr3:69801327-Variant-T;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Reference C tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga CGTAACGGCCAT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAcgtaacggccatAGATCGAGACCCGACGC chr3:69801327-Reference-C;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Variant T tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GTTCGCCGATCA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcTggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAgttcgccgatcaAGATCGAGACCCGACGC chr3:69801327-Variant-T;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative G tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga AACGACGTAACG CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAaacgacgtaacgAGATCGAGACCCGACGC chr3:69801327-Alternative-G;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative G tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga ACTTGTTCAAGG CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAacttgttcaaggAGATCGAGACCCGACGC chr3:69801327-Alternative-G;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Reference C tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GTACAAGCCTGA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcCggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAgtacaagcctgaAGATCGAGACCCGACGC chr3:69801327-Reference-C;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative G tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga GCCGTCTATAAT CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAgccgtctataatAGATCGAGACCCGACGC chr3:69801327-Alternative-G;Patient-55 chr3:69801327-CT Inherited Patient-55 intronic MITF 0.000478 0.000247 -0.07 1.69 -0.32 MITF 12740 Alternative G tggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaaga ACGTCGATATCA CGACGCGGTCTCTCTCTtggaaccatgagtgaattaaacctcttttctttataagttacccagcctcGggtatttctttatagcaatgtggactaatacagaaaattggtgccaagaAGAGGGAGACGGACGTCTCAATAAacgtcgatatcaAGATCGAGACCCGACGC chr3:69801327-Alternative-G;Patient-55 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative T aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccag GCGATGTCGAAC CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAgcgatgtcgaacAGATCGAGACCCGACGC chr3:71739506-Alternative-T;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative T aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CTGGTCTGGAGA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAActggtctggagaAGATCGAGACCCGACGC chr3:71739506-Alternative-T;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative T aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccag AGCAACACGACG CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAagcaacacgacgAGATCGAGACCCGACGC chr3:71739506-Alternative-T;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative T aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CACATAGAGTCT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcacatagagtctAGATCGAGACCCGACGC chr3:71739506-Alternative-T;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative A aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccag AACTACGCTAGA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAaactacgctagaAGATCGAGACCCGACGC chr3:71739506-Alternative-A;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Reference C aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CATGCGCATCCA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcatgcgcatccaAGATCGAGACCCGACGC chr3:71739506-Reference-C;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative T aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccag GCAGTTGGTCGT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagTtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAgcagttggtcgtAGATCGAGACCCGACGC chr3:71739506-Alternative-T;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Reference C aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CTATGTATACGC CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAActatgtatacgcAGATCGAGACCCGACGC chr3:71739506-Reference-C;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative A aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CATTAGCGCGCT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcattagcgcgctAGATCGAGACCCGACGC chr3:71739506-Alternative-A;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Reference C aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccag ATCTGTCGCGGT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAatctgtcgcggtAGATCGAGACCCGACGC chr3:71739506-Reference-C;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative A aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CTTATTCGCGCG CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAActtattcgcgcgAGATCGAGACCCGACGC chr3:71739506-Alternative-A;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Variant G aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CGACTCACCTTA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcgactcaccttaAGATCGAGACCCGACGC chr3:71739506-Variant-G;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Variant G aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CGCCTAAGTTCG CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcgcctaagttcgAGATCGAGACCCGACGC chr3:71739506-Variant-G;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Reference C aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccag AGGACGATGACA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAaggacgatgacaAGATCGAGACCCGACGC chr3:71739506-Reference-C;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative A aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccag CGTCGGATTGGT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAcgtcggattggtAGATCGAGACCCGACGC chr3:71739506-Alternative-A;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Variant G aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccag GACTGTACTGCG CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAgactgtactgcgAGATCGAGACCCGACGC chr3:71739506-Variant-G;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Reference C aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccag ACAGGCTTAAGA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagCtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAacaggcttaagaAGATCGAGACCCGACGC chr3:71739506-Reference-C;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Variant G aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccag ACTCTAGCGGCA CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAactctagcggcaAGATCGAGACCCGACGC chr3:71739506-Variant-G;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Variant G aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccag GTGAACCGATGT CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagGtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAgtgaaccgatgtAGATCGAGACCCGACGC chr3:71739506-Variant-G;Patient-101 chr3:71739506-CG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000445 0.36 7.93 1.34 EIF4E3 64417 Alternative A aattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccag AGTACGTTAAGG CGACGCGGTCTCTCTCTaattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagAtgtagcagtcacatcacatttatccagggacttagataaagtgttccagAGAGGGAGACGGACGTCTCAATAAagtacgttaaggAGATCGAGACCCGACGC chr3:71739506-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Variant G attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CGAACGCAGATT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAcgaacgcagattAGATCGAGACCCGACGC chr3:71739507-Variant-G;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Reference T attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagc ATAATGGCGGCG CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAataatggcggcgAGATCGAGACCCGACGC chr3:71739507-Reference-T;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Reference T attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagc ATCGAGGATCTT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAatcgaggatcttAGATCGAGACCCGACGC chr3:71739507-Reference-T;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Reference T attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AACGCTTGGATT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAaacgcttggattAGATCGAGACCCGACGC chr3:71739507-Reference-T;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Reference T attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AATGAGCGGTAT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAaatgagcggtatAGATCGAGACCCGACGC chr3:71739507-Reference-T;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative C attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagc GCGATTGTCTTA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAgcgattgtcttaAGATCGAGACCCGACGC chr3:71739507-Alternative-C;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Variant G attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CGCCTACCTAGA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAcgcctacctagaAGATCGAGACCCGACGC chr3:71739507-Variant-G;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Reference T attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AGCAGCATGACG CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcTgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAagcagcatgacgAGATCGAGACCCGACGC chr3:71739507-Reference-T;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Variant G attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CGTGGTCGAGAA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAcgtggtcgagaaAGATCGAGACCCGACGC chr3:71739507-Variant-G;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative A attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagc GCCGATCCTTCT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAgccgatccttctAGATCGAGACCCGACGC chr3:71739507-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Variant G attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CGTTAGATCGTT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAcgttagatcgttAGATCGAGACCCGACGC chr3:71739507-Variant-G;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative C attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagc ACTGTGCAGATT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAactgtgcagattAGATCGAGACCCGACGC chr3:71739507-Alternative-C;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative A attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AGCCTTCGGATA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAagccttcggataAGATCGAGACCCGACGC chr3:71739507-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative A attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AGGACTCTAAGA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAaggactctaagaAGATCGAGACCCGACGC chr3:71739507-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative A attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagc GGAACTAGTACA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAggaactagtacaAGATCGAGACCCGACGC chr3:71739507-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative A attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CTTACGTGTTGT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcAgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAActtacgtgttgtAGATCGAGACCCGACGC chr3:71739507-Alternative-A;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative C attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagc AGGTGTAGATAC CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAaggtgtagatacAGATCGAGACCCGACGC chr3:71739507-Alternative-C;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative C attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CGTTGTGGACAC CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAcgttgtggacacAGATCGAGACCCGACGC chr3:71739507-Alternative-C;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Variant G attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagc CTGTCTTCTGAA CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcGgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAActgtcttctgaaAGATCGAGACCCGACGC chr3:71739507-Variant-G;Patient-101 chr3:71739507-TG DeNovo Patient-101 intronic EIF4E3 0.000223 0.000495 0.51 9.49 -2.52 EIF4E3 64416 Alternative C attgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagc GTAGCGTATAGT CGACGCGGTCTCTCTCTattgtttctatggggaatcactggaggaaagcaagtcagtgcacaaaagcCgtagcagtcacatcacatttatccagggacttagataaagtgttccagcAGAGGGAGACGGACGTCTCAATAAgtagcgtatagtAGATCGAGACCCGACGC chr3:71739507-Alternative-C;Patient-101 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Reference T gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GGAGTATCTCAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAggagtatctcatAGATCGAGACCCGACGC chr3:73728521-Reference-T;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Reference T gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CGGAAGTACGGT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAcggaagtacggtAGATCGAGACCCGACGC chr3:73728521-Reference-T;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Reference T gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag ATCGTACACTGA CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAatcgtacactgaAGATCGAGACCCGACGC chr3:73728521-Reference-T;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative A gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag AACGGTAGGATT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAaacggtaggattAGATCGAGACCCGACGC chr3:73728521-Alternative-A;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative A gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GAGTAGTCGACG CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAgagtagtcgacgAGATCGAGACCCGACGC chr3:73728521-Alternative-A;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative G gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CAGAGCTCTCCT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAcagagctctcctAGATCGAGACCCGACGC chr3:73728521-Alternative-G;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative G gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CGCTTGACGCTT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAcgcttgacgcttAGATCGAGACCCGACGC chr3:73728521-Alternative-G;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative A gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag ACTATCGCAACA CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAactatcgcaacaAGATCGAGACCCGACGC chr3:73728521-Alternative-A;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Reference T gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GGACGTTGCGAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAggacgttgcgatAGATCGAGACCCGACGC chr3:73728521-Reference-T;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative G gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag AACCAACGGTGG CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAaaccaacggtggAGATCGAGACCCGACGC chr3:73728521-Alternative-G;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Variant C gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GTACTACTTAGG CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAgtactacttaggAGATCGAGACCCGACGC chr3:73728521-Variant-C;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative G gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag ATCTCTTGACCA CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAatctcttgaccaAGATCGAGACCCGACGC chr3:73728521-Alternative-G;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative G gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GGCTGAGACAAC CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttGttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAggctgagacaacAGATCGAGACCCGACGC chr3:73728521-Alternative-G;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Reference T gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GCGTTATTCGAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttTttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAgcgttattcgatAGATCGAGACCCGACGC chr3:73728521-Reference-T;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Variant C gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CATGAATCGCAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAcatgaatcgcatAGATCGAGACCCGACGC chr3:73728521-Variant-C;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative A gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag ACGCAGAGGTAA CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAacgcagaggtaaAGATCGAGACCCGACGC chr3:73728521-Alternative-A;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Variant C gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CTTATTGTGTGC CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAActtattgtgtgcAGATCGAGACCCGACGC chr3:73728521-Variant-C;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Alternative A gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag AAGTTGGACGAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttAttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAaagttggacgatAGATCGAGACCCGACGC chr3:73728521-Alternative-A;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Variant C gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag CGACGGCGTTAT CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAcgacggcgttatAGATCGAGACCCGACGC chr3:73728521-Variant-C;Patient-104 chr3:73728521-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.07 1.7 -1.15 PDZRN3 54429 Variant C gctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccag GCAGCTTAACAC CGACGCGGTCTCTCTCTgctaaaatgggcaacatagtttatcaatctttgttctctctctctctcttCttttttttttttttgtgtgtgtgacagggtcttgctctgtcaccaccagAGAGGGAGACGGACGTCTCAATAAgcagcttaacacAGATCGAGACCCGACGC chr3:73728521-Variant-C;Patient-104 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative G ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GTCTCCATGCGT CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAgtctccatgcgtAGATCGAGACCCGACGC chr3:74557534-Alternative-G;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative G ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactat AGTTCCATGGAG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAagttccatggagAGATCGAGACCCGACGC chr3:74557534-Alternative-G;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative G ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactat CAGCTGACGTGT CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAcagctgacgtgtAGATCGAGACCCGACGC chr3:74557534-Alternative-G;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative G ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactat AAGTAGTCGGAA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAaagtagtcggaaAGATCGAGACCCGACGC chr3:74557534-Alternative-G;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative C ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactat CGGACAAGCAAG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAcggacaagcaagAGATCGAGACCCGACGC chr3:74557534-Alternative-C;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative G ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GGACGTGTCGAA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtGtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAggacgtgtcgaaAGATCGAGACCCGACGC chr3:74557534-Alternative-G;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Reference A ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactat CGAATGTAGGCG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAcgaatgtaggcgAGATCGAGACCCGACGC chr3:74557534-Reference-A;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative C ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactat AGTTAGGCGTGG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAagttaggcgtggAGATCGAGACCCGACGC chr3:74557534-Alternative-C;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Variant T ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GGCTACGTTAGT CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAggctacgttagtAGATCGAGACCCGACGC chr3:74557534-Variant-T;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Reference A ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GTTGGCCGCTAT CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAgttggccgctatAGATCGAGACCCGACGC chr3:74557534-Reference-A;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative C ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GGCTATCACTTA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAggctatcacttaAGATCGAGACCCGACGC chr3:74557534-Alternative-C;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Reference A ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GATCACGAGCCA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAgatcacgagccaAGATCGAGACCCGACGC chr3:74557534-Reference-A;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Variant T ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactat ACGCAGATTCAT CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAacgcagattcatAGATCGAGACCCGACGC chr3:74557534-Variant-T;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Variant T ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactat ACAACGCATTCA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAacaacgcattcaAGATCGAGACCCGACGC chr3:74557534-Variant-T;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Variant T ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactat CGCTCATCTATA CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAcgctcatctataAGATCGAGACCCGACGC chr3:74557534-Variant-T;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Reference A ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactat ACGAAGCATACG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAacgaagcatacgAGATCGAGACCCGACGC chr3:74557534-Reference-A;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative C ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactat AGTGAGACACAG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAagtgagacacagAGATCGAGACCCGACGC chr3:74557534-Alternative-C;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Reference A ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactat AACTCGCGTTCG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtAtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAaactcgcgttcgAGATCGAGACCCGACGC chr3:74557534-Reference-A;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Variant T ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactat GTCGGACCTAAG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtTtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAgtcggacctaagAGATCGAGACCCGACGC chr3:74557534-Variant-T;Patient-105 chr3:74557534-AT DeNovo Patient-105 intronic CNTN3 NA 3.85e-05 -0.03 2.25 0.52 CNTN3 12756 Alternative C ggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactat ATAACACGACAG CGACGCGGTCTCTCTCTggcctcttctctttataaattaccagtctctggcagttcttaatagcagtCtgaaaatggactattacaacaactttccccaaaatgcatctggaactatAGAGGGAGACGGACGTCTCAATAAataacacgacagAGATCGAGACCCGACGC chr3:74557534-Alternative-C;Patient-105 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative G ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttccc CTTGGTGATCGG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAActtggtgatcggAGATCGAGACCCGACGC chr3:79807286-Alternative-G;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative G ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttccc GGAAGTTCCAGG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAggaagttccaggAGATCGAGACCCGACGC chr3:79807286-Alternative-G;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative G ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttccc CACAACGCTATA CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAcacaacgctataAGATCGAGACCCGACGC chr3:79807286-Alternative-G;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative G ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttccc CGGTGGATTCAC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAcggtggattcacAGATCGAGACCCGACGC chr3:79807286-Alternative-G;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Reference T ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttccc GAGTCACCAACT CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgagtcaccaactAGATCGAGACCCGACGC chr3:79807286-Reference-T;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Reference T ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttccc CTCACCGACAAC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAActcaccgacaacAGATCGAGACCCGACGC chr3:79807286-Reference-T;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Variant C ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttccc AGGTACGCGTGT CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAaggtacgcgtgtAGATCGAGACCCGACGC chr3:79807286-Variant-C;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Reference T ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttccc GTTGTGTCGTGG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgttgtgtcgtggAGATCGAGACCCGACGC chr3:79807286-Reference-T;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Variant C ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttccc CGACGCTCGAAT CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAcgacgctcgaatAGATCGAGACCCGACGC chr3:79807286-Variant-C;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative A ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttccc GAATTGCATCGG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgaattgcatcggAGATCGAGACCCGACGC chr3:79807286-Alternative-A;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Variant C ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttccc CGATGACGCATC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAcgatgacgcatcAGATCGAGACCCGACGC chr3:79807286-Variant-C;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative G ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttccc GATGCGTCCTAC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattGtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgatgcgtcctacAGATCGAGACCCGACGC chr3:79807286-Alternative-G;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Variant C ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttccc GGTACAGTAACC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAggtacagtaaccAGATCGAGACCCGACGC chr3:79807286-Variant-C;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative A ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttccc AGTGAGGTTCGG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAagtgaggttcggAGATCGAGACCCGACGC chr3:79807286-Alternative-A;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative A ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttccc GTGCCGATTGAC CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgtgccgattgacAGATCGAGACCCGACGC chr3:79807286-Alternative-A;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative A ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttccc GACTGGTACATA CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgactggtacataAGATCGAGACCCGACGC chr3:79807286-Alternative-A;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Reference T ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttccc AGTGGCAGTATA CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAagtggcagtataAGATCGAGACCCGACGC chr3:79807286-Reference-T;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Variant C ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttccc AACTCCTAGTCT CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattCtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAaactcctagtctAGATCGAGACCCGACGC chr3:79807286-Variant-C;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Reference T ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttccc GACGAAGGACGA CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattTtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAgacgaaggacgaAGATCGAGACCCGACGC chr3:79807286-Reference-T;Patient-59 chr3:79807286-TC Inherited Patient-59 intronic ROBO1 0.000701 0.00112 0.11 4.48 1.91 ROBO1 9772 Alternative A ccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttccc ACGTGTACATCG CGACGCGGTCTCTCTCTccactgaaaattaaagcattgatgttattaccatgccctgtaaaactattAtattcataaattcatctccttctaattttactgtgagtctattcttcccAGAGGGAGACGGACGTCTCAATAAacgtgtacatcgAGATCGAGACCCGACGC chr3:79807286-Alternative-A;Patient-59 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Reference T catatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatata ACGCGTAAGCCA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAacgcgtaagccaAGATCGAGACCCGACGC chr3:79820619-Reference-T;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Variant C catatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatata AGATGTGCATGA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAagatgtgcatgaAGATCGAGACCCGACGC chr3:79820619-Variant-C;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Reference T catatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatata AGTGCTAATCGT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAagtgctaatcgtAGATCGAGACCCGACGC chr3:79820619-Reference-T;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative A catatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatata GATGCAACTAGA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAgatgcaactagaAGATCGAGACCCGACGC chr3:79820619-Alternative-A;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative A catatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatata CATCATTGCGTT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAcatcattgcgttAGATCGAGACCCGACGC chr3:79820619-Alternative-A;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative A catatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatata GGTACAGTCGCT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAggtacagtcgctAGATCGAGACCCGACGC chr3:79820619-Alternative-A;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative A catatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatata AGTTAGACGGCG CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAagttagacggcgAGATCGAGACCCGACGC chr3:79820619-Alternative-A;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative A catatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatata ACCGATTCCGTC CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgAatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAaccgattccgtcAGATCGAGACCCGACGC chr3:79820619-Alternative-A;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Variant C catatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatata CTCAACATGCGC CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAActcaacatgcgcAGATCGAGACCCGACGC chr3:79820619-Variant-C;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Variant C catatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatata CGGATGCCTAGT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAcggatgcctagtAGATCGAGACCCGACGC chr3:79820619-Variant-C;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative G catatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatata GGACTCGGCATT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAggactcggcattAGATCGAGACCCGACGC chr3:79820619-Alternative-G;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative G catatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatata ATCAATGGCGGC CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAatcaatggcggcAGATCGAGACCCGACGC chr3:79820619-Alternative-G;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Reference T catatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatata CTAGGCCTCTGA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAActaggcctctgaAGATCGAGACCCGACGC chr3:79820619-Reference-T;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative G catatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatata ACGCCACGTAAG CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAacgccacgtaagAGATCGAGACCCGACGC chr3:79820619-Alternative-G;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Variant C catatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatata GCGTATGGACGA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAgcgtatggacgaAGATCGAGACCCGACGC chr3:79820619-Variant-C;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative G catatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatata ACGATGTTGGAA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAacgatgttggaaAGATCGAGACCCGACGC chr3:79820619-Alternative-G;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Alternative G catatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatata AACAGCGGTATA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgGatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAaacagcggtataAGATCGAGACCCGACGC chr3:79820619-Alternative-G;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Reference T catatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatata GTCTACGGTGGT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAgtctacggtggtAGATCGAGACCCGACGC chr3:79820619-Reference-T;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Variant C catatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatata CGTCGTTCAGCT CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgCatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAcgtcgttcagctAGATCGAGACCCGACGC chr3:79820619-Variant-C;Patient-64 chr3:79820619-TC DeNovo Patient-64 intergenic 0.000226 0.0113 -0.06 1.8 0 ROBO1 3559 Reference T catatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatata GCGCGTGTCTTA CGACGCGGTCTCTCTCTcatatacacatatatacacatatacacatatatacacacatatacacatgTatacacatatacgcatatatacacacgcatacacatatactcatatataAGAGGGAGACGGACGTCTCAATAAgcgcgtgtcttaAGATCGAGACCCGACGC chr3:79820619-Reference-T;Patient-64 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative G ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CAGCGTAACTTA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAcagcgtaacttaAGATCGAGACCCGACGC chr3:8713880-Alternative-G;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative G ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GCGATCAGGCAA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgcgatcaggcaaAGATCGAGACCCGACGC chr3:8713880-Alternative-G;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative G ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagta AGATTGACCGGC CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAagattgaccggcAGATCGAGACCCGACGC chr3:8713880-Alternative-G;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Reference T ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CAAGGTTGAGCG CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAcaaggttgagcgAGATCGAGACCCGACGC chr3:8713880-Reference-T;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Reference T ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTTCCAAGCCGT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgttccaagccgtAGATCGAGACCCGACGC chr3:8713880-Reference-T;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Reference T ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CTACCGTAGATT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAActaccgtagattAGATCGAGACCCGACGC chr3:8713880-Reference-T;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Reference T ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagta ATACGCGACGAG CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAatacgcgacgagAGATCGAGACCCGACGC chr3:8713880-Reference-T;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Reference T ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GAATGGTTGCTT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaTgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgaatggttgcttAGATCGAGACCCGACGC chr3:8713880-Reference-T;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Variant C ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTAATATCCGCA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgtaatatccgcaAGATCGAGACCCGACGC chr3:8713880-Variant-C;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative A ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CGTCGTGAGGTT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAcgtcgtgaggttAGATCGAGACCCGACGC chr3:8713880-Alternative-A;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative A ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTTGAGTCGTTA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgttgagtcgttaAGATCGAGACCCGACGC chr3:8713880-Alternative-A;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative A ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTTCCAGTACGG CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgttccagtacggAGATCGAGACCCGACGC chr3:8713880-Alternative-A;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative A ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GATGCGCATAAT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgatgcgcataatAGATCGAGACCCGACGC chr3:8713880-Alternative-A;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Variant C ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTTACCGAACAT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgttaccgaacatAGATCGAGACCCGACGC chr3:8713880-Variant-C;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative A ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GATTACACCTTC CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaAgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgattacaccttcAGATCGAGACCCGACGC chr3:8713880-Alternative-A;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Variant C ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CGTAATCGTCAA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAcgtaatcgtcaaAGATCGAGACCCGACGC chr3:8713880-Variant-C;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative G ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagta ACGAGCGTTGCT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAacgagcgttgctAGATCGAGACCCGACGC chr3:8713880-Alternative-G;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Variant C ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagta GTGTACGAGCGA CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAgtgtacgagcgaAGATCGAGACCCGACGC chr3:8713880-Variant-C;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Variant C ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagta CGTCTATTAGCT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaCgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAcgtctattagctAGATCGAGACCCGACGC chr3:8713880-Variant-C;Patient-25 chr3:8713880-TC Inherited Patient-25 intergenic 3.2e-05 0.000512821 0.13 4.74 0 CAV3 61605 Alternative G ccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagta ACGGCGTCCTAT CGACGCGGTCTCTCTCTccaccccatgcgatattgaaagtaacatcatcctcttctctcctggatcaGgggaacaatatccctggggtggtgtacactttctgcgctattgggagtaAGAGGGAGACGGACGTCTCAATAAacggcgtcctatAGATCGAGACCCGACGC chr3:8713880-Alternative-G;Patient-25 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Reference C ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagccctta AGTCGTCCATAA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAagtcgtccataaAGATCGAGACCCGACGC chr3:87222693-Reference-C;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Reference C ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagccctta GTTCGCTCTTAA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAgttcgctcttaaAGATCGAGACCCGACGC chr3:87222693-Reference-C;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Reference C ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagccctta AAGGCTACTCGT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAaaggctactcgtAGATCGAGACCCGACGC chr3:87222693-Reference-C;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Reference C ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagccctta ACCGTGTGGATT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAaccgtgtggattAGATCGAGACCCGACGC chr3:87222693-Reference-C;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Reference C ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagccctta ACATCGCAGCTA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacCctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAacatcgcagctaAGATCGAGACCCGACGC chr3:87222693-Reference-C;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative A ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagccctta AGTACGGATGTT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAagtacggatgttAGATCGAGACCCGACGC chr3:87222693-Alternative-A;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative G ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagccctta ATTACCGCGTCG CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAattaccgcgtcgAGATCGAGACCCGACGC chr3:87222693-Alternative-G;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative G ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagccctta GGTTGCCTAATT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAggttgcctaattAGATCGAGACCCGACGC chr3:87222693-Alternative-G;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative A ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagccctta GTCGTGAATGCA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAgtcgtgaatgcaAGATCGAGACCCGACGC chr3:87222693-Alternative-A;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative A ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagccctta AACGTGTATCGT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAaacgtgtatcgtAGATCGAGACCCGACGC chr3:87222693-Alternative-A;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative A ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagccctta GATCCACGAACT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAgatccacgaactAGATCGAGACCCGACGC chr3:87222693-Alternative-A;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Variant T ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagccctta CTATCGCAGACG CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAActatcgcagacgAGATCGAGACCCGACGC chr3:87222693-Variant-T;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative G ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagccctta CGCTACGCTCTA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAcgctacgctctaAGATCGAGACCCGACGC chr3:87222693-Alternative-G;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative G ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagccctta GCGAGTAGTATA CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAgcgagtagtataAGATCGAGACCCGACGC chr3:87222693-Alternative-G;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative G ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagccctta ATCGACCAGAAG CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacGctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAatcgaccagaagAGATCGAGACCCGACGC chr3:87222693-Alternative-G;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Variant T ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagccctta CTTAGCCTTGAT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAActtagccttgatAGATCGAGACCCGACGC chr3:87222693-Variant-T;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Variant T ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagccctta CGGACTCATGAG CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAcggactcatgagAGATCGAGACCCGACGC chr3:87222693-Variant-T;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Variant T ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagccctta AACTATTCGACG CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAaactattcgacgAGATCGAGACCCGACGC chr3:87222693-Variant-T;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Variant T ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagccctta CAGTTGTGAACT CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacTctctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAcagttgtgaactAGATCGAGACCCGACGC chr3:87222693-Variant-T;Patient-30 chr3:87222693-CT DeNovo Patient-30 intergenic NA 0.000513 NA NA NA CHMP2B 53719 Alternative A ggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagccctta CATTGTTCAACC CGACGCGGTCTCTCTCTggataggagcacagtacatgaagtaatgacccatagtggagataggtcacActctccagctggttggcaaactctcattgagctttccaaatagcccttaAGAGGGAGACGGACGTCTCAATAAcattgttcaaccAGATCGAGACCCGACGC chr3:87222693-Alternative-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Reference G atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GAGTATTAGCGA CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgagtattagcgaAGATCGAGACCCGACGC chr3:87345624-Reference-G;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Reference G atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GGAGAACGCAAG CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAggagaacgcaagAGATCGAGACCCGACGC chr3:87345624-Reference-G;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Reference G atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GATCAAGTCGAA CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgatcaagtcgaaAGATCGAGACCCGACGC chr3:87345624-Reference-G;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative C atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GACGTTCATAGT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgacgttcatagtAGATCGAGACCCGACGC chr3:87345624-Alternative-C;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Variant A atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GTTCAATTGACG CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgttcaattgacgAGATCGAGACCCGACGC chr3:87345624-Variant-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Variant A atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt ACACGCGACGTT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAacacgcgacgttAGATCGAGACCCGACGC chr3:87345624-Variant-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Variant A atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GCAGCTACGTAC CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgcagctacgtacAGATCGAGACCCGACGC chr3:87345624-Variant-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Variant A atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GCGAATTACCGG CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgcgaattaccggAGATCGAGACCCGACGC chr3:87345624-Variant-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Variant A atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt CGAAGGTTGACG CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgAcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAcgaaggttgacgAGATCGAGACCCGACGC chr3:87345624-Variant-A;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative T atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt ACACGAAGGTGT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAacacgaaggtgtAGATCGAGACCCGACGC chr3:87345624-Alternative-T;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative T atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt ACGTCTATAACG CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAacgtctataacgAGATCGAGACCCGACGC chr3:87345624-Alternative-T;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative T atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt AGCTCTGTGATT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAagctctgtgattAGATCGAGACCCGACGC chr3:87345624-Alternative-T;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative T atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GGATCTCGTATT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAggatctcgtattAGATCGAGACCCGACGC chr3:87345624-Alternative-T;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative T atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt AACGGCGTGCTT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgTcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAaacggcgtgcttAGATCGAGACCCGACGC chr3:87345624-Alternative-T;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Reference G atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt AAGATCCGCGCT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAaagatccgcgctAGATCGAGACCCGACGC chr3:87345624-Reference-G;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Reference G atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt CTCACCGGCTAA CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgGcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAActcaccggctaaAGATCGAGACCCGACGC chr3:87345624-Reference-G;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative C atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GGTGTAGAAGTT CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAggtgtagaagttAGATCGAGACCCGACGC chr3:87345624-Alternative-C;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative C atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt ACGTGCGCTATC CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAacgtgcgctatcAGATCGAGACCCGACGC chr3:87345624-Alternative-C;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative C atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt GATGATGCTCTA CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAgatgatgctctaAGATCGAGACCCGACGC chr3:87345624-Alternative-C;Patient-30 chr3:87345624-GA Inherited Patient-30 intergenic 0.000637 0.00154 NA NA NA POU1F1 19886 Alternative C atcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaatt AGATACGTGACA CGACGCGGTCTCTCTCTatcgaatagaattagacagttttcctgttgctcattcaagcagatggtcgCcattgaccatcatttaatgataaagcaacacagaacaacaatatgaattAGAGGGAGACGGACGTCTCAATAAagatacgtgacaAGATCGAGACCCGACGC chr3:87345624-Alternative-C;Patient-30 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Variant G tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca ACCTCAATCAAG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAacctcaatcaagAGATCGAGACCCGACGC chr3:87369888-Variant-G;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Variant G tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GTTGGCGTTACG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAgttggcgttacgAGATCGAGACCCGACGC chr3:87369888-Variant-G;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Variant G tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GGTGATTCGCAC CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAggtgattcgcacAGATCGAGACCCGACGC chr3:87369888-Variant-G;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative T tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca CGTGATCAGGCA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAcgtgatcaggcaAGATCGAGACCCGACGC chr3:87369888-Alternative-T;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative T tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca AAGATTGTGCGA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAaagattgtgcgaAGATCGAGACCCGACGC chr3:87369888-Alternative-T;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Variant G tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca CTGTGTCTTACA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAActgtgtcttacaAGATCGAGACCCGACGC chr3:87369888-Variant-G;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Variant G tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GTCAATTCCGGC CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaGtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAgtcaattccggcAGATCGAGACCCGACGC chr3:87369888-Variant-G;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative T tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GGCCAATAGCCA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAggccaatagccaAGATCGAGACCCGACGC chr3:87369888-Alternative-T;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative T tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GTGGCATTCGCA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAgtggcattcgcaAGATCGAGACCCGACGC chr3:87369888-Alternative-T;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative T tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca AAGCGTAGCGCA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaTtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAaagcgtagcgcaAGATCGAGACCCGACGC chr3:87369888-Alternative-T;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Reference A tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca AGTAGAGCGAAC CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAagtagagcgaacAGATCGAGACCCGACGC chr3:87369888-Reference-A;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative C tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca CATCACATCGCG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAcatcacatcgcgAGATCGAGACCCGACGC chr3:87369888-Alternative-C;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Reference A tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca CAAGATGTTACG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAcaagatgttacgAGATCGAGACCCGACGC chr3:87369888-Reference-A;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative C tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GTATTACCGCAA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAgtattaccgcaaAGATCGAGACCCGACGC chr3:87369888-Alternative-C;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative C tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca AACAGAGGTAGA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAaacagaggtagaAGATCGAGACCCGACGC chr3:87369888-Alternative-C;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative C tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca ACGTGGTCATCG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAacgtggtcatcgAGATCGAGACCCGACGC chr3:87369888-Alternative-C;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Alternative C tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GAGCATAAGAAG CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaCtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAgagcataagaagAGATCGAGACCCGACGC chr3:87369888-Alternative-C;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Reference A tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca CATCCAAGAATC CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAcatccaagaatcAGATCGAGACCCGACGC chr3:87369888-Reference-A;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Reference A tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca AGTGATAGATGC CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAagtgatagatgcAGATCGAGACCCGACGC chr3:87369888-Reference-A;Patient-62 chr3:87369888-AG DeNovo Patient-62 intergenic 0.000573 0.000513 0.47 9.11 0.21 POU1F1 44150 Reference A tccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaaca GGCGAAGAATAA CGACGCGGTCTCTCTCTtccttaagtagtgataaaataggcagttagaggcagagcaagatggctgaAtagaaacctccaccaagtatctccccctgcaggaacaccaaatttaacaAGAGGGAGACGGACGTCTCAATAAggcgaagaataaAGATCGAGACCCGACGC chr3:87369888-Reference-A;Patient-62 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Reference G ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CTACGGTATTCT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAActacggtattctAGATCGAGACCCGACGC chr3:8765056-Reference-G;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Reference G ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GCAAGTAAGGAC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgcaagtaaggacAGATCGAGACCCGACGC chr3:8765056-Reference-G;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Reference G ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CGATAATTGTGC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAcgataattgtgcAGATCGAGACCCGACGC chr3:8765056-Reference-G;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative C ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt AGATAGTCCGGC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAagatagtccggcAGATCGAGACCCGACGC chr3:8765056-Alternative-C;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative C ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GATTATGGTCGT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgattatggtcgtAGATCGAGACCCGACGC chr3:8765056-Alternative-C;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative C ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GGCTCCATTGTC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAggctccattgtcAGATCGAGACCCGACGC chr3:8765056-Alternative-C;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative C ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt AGCTGGTACAGT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAagctggtacagtAGATCGAGACCCGACGC chr3:8765056-Alternative-C;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative C ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CACGCGTAACCT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaCgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAcacgcgtaacctAGATCGAGACCCGACGC chr3:8765056-Alternative-C;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Variant A ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GAGTAGGTGGAG CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgagtaggtggagAGATCGAGACCCGACGC chr3:8765056-Variant-A;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Variant A ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt AACGACATCTAC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAaacgacatctacAGATCGAGACCCGACGC chr3:8765056-Variant-A;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Variant A ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GGACGCGCATAA CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAggacgcgcataaAGATCGAGACCCGACGC chr3:8765056-Variant-A;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Variant A ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GACCGGTCAGTT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgaccggtcagttAGATCGAGACCCGACGC chr3:8765056-Variant-A;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Variant A ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GACTGGCAGTAC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaAgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgactggcagtacAGATCGAGACCCGACGC chr3:8765056-Variant-A;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative T ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt GATTCTGCAACA CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAgattctgcaacaAGATCGAGACCCGACGC chr3:8765056-Alternative-T;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative T ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CTCTAGTACCGA CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAActctagtaccgaAGATCGAGACCCGACGC chr3:8765056-Alternative-T;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative T ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt AGACGTTCAACC CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAagacgttcaaccAGATCGAGACCCGACGC chr3:8765056-Alternative-T;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative T ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt AGGTTGTAGTCA CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAaggttgtagtcaAGATCGAGACCCGACGC chr3:8765056-Alternative-T;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Alternative T ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt ACTGGTCAAGCG CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaTgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAactggtcaagcgAGATCGAGACCCGACGC chr3:8765056-Alternative-T;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Reference G ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CTACGCGGCAAT CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAActacgcggcaatAGATCGAGACCCGACGC chr3:8765056-Reference-G;Patient-30 chr3:8765056-GA Inherited Patient-30 intergenic 0.000287 0.000512821 NA NA NA CAV3 10429 Reference G ccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattctt CGTAAGCGGAGA CGACGCGGTCTCTCTCTccttcatgcagtcaatcaacaagtatctatagagtctctactgggtgccaGgccctgttccaaaagctaaattcacaacaacaacttattcctaattcttAGAGGGAGACGGACGTCTCAATAAcgtaagcggagaAGATCGAGACCCGACGC chr3:8765056-Reference-G;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Variant C tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatc ACTCGCGCTAGT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAactcgcgctagtAGATCGAGACCCGACGC chr3:8860855-Variant-C;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Variant C tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GATCACGTAGAA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgatcacgtagaaAGATCGAGACCCGACGC chr3:8860855-Variant-C;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Variant C tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GCGATTATTGTC CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgcgattattgtcAGATCGAGACCCGACGC chr3:8860855-Variant-C;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Variant C tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTAACGCTTCGC CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgtaacgcttcgcAGATCGAGACCCGACGC chr3:8860855-Variant-C;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Variant C tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatc ATCCGTTGCGAC CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgCctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAatccgttgcgacAGATCGAGACCCGACGC chr3:8860855-Variant-C;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative A tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatc AACGGCGCTGTT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAaacggcgctgttAGATCGAGACCCGACGC chr3:8860855-Alternative-A;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative A tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatc CTTGCGACGAGT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAActtgcgacgagtAGATCGAGACCCGACGC chr3:8860855-Alternative-A;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative A tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatc AGAGCATTCAGA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAagagcattcagaAGATCGAGACCCGACGC chr3:8860855-Alternative-A;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative A tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatc GCGTGAGACACT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgcgtgagacactAGATCGAGACCCGACGC chr3:8860855-Alternative-A;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative A tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatc ACCTTCTGGTTA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgActcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAaccttctggttaAGATCGAGACCCGACGC chr3:8860855-Alternative-A;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative T tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTCGTAGCGACT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgtcgtagcgactAGATCGAGACCCGACGC chr3:8860855-Alternative-T;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative T tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTTACGGTAGCG CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgttacggtagcgAGATCGAGACCCGACGC chr3:8860855-Alternative-T;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative T tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GGCGTCAGCTAA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAggcgtcagctaaAGATCGAGACCCGACGC chr3:8860855-Alternative-T;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative T tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatc ACCGATAATAGG CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAaccgataataggAGATCGAGACCCGACGC chr3:8860855-Alternative-T;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Alternative T tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTAGGTTACGAA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgTctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgtaggttacgaaAGATCGAGACCCGACGC chr3:8860855-Alternative-T;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Reference G tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatc CTTATGTCGGTT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAActtatgtcggttAGATCGAGACCCGACGC chr3:8860855-Reference-G;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Reference G tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatc ATCCTACATCCA CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAatcctacatccaAGATCGAGACCCGACGC chr3:8860855-Reference-G;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Reference G tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTATACTCGACC CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgtatactcgaccAGATCGAGACCCGACGC chr3:8860855-Reference-G;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Reference G tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatc GTAGATCAAGGT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAgtagatcaaggtAGATCGAGACCCGACGC chr3:8860855-Reference-G;Patient-30 chr3:8860855-GC Inherited Patient-30 intergenic NA 0.000513 NA NA NA OXTR 49554 Reference G tgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatc ATTATGCCTCGT CGACGCGGTCTCTCTCTtgtaaaagtgctaccagcctacattaagatgtggactgaaatctaaggtgGctcaaatataagagggcttctggtccccaactttctacagaaaggaatcAGAGGGAGACGGACGTCTCAATAAattatgcctcgtAGATCGAGACCCGACGC chr3:8860855-Reference-G;Patient-30 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative A atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaat CGTGACAAGCGA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAcgtgacaagcgaAGATCGAGACCCGACGC chr3:8861134-Alternative-A;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Reference C atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaat GGTATCTTCTAC CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAggtatcttctacAGATCGAGACCCGACGC chr3:8861134-Reference-C;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Reference C atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaat GGACGTAGACCT CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAggacgtagacctAGATCGAGACCCGACGC chr3:8861134-Reference-C;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Reference C atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaat ATCTGGTCGGCA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAatctggtcggcaAGATCGAGACCCGACGC chr3:8861134-Reference-C;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative A atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaat CGAAGGATAGAA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAcgaaggatagaaAGATCGAGACCCGACGC chr3:8861134-Alternative-A;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative A atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaat GTCAAGCGACAG CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAgtcaagcgacagAGATCGAGACCCGACGC chr3:8861134-Alternative-A;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative A atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaat GTGCGATGACCA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAgtgcgatgaccaAGATCGAGACCCGACGC chr3:8861134-Alternative-A;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative A atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaat GGATGTACCGCA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccAttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAggatgtaccgcaAGATCGAGACCCGACGC chr3:8861134-Alternative-A;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Reference C atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaat CTGGTACGGTAC CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAActggtacggtacAGATCGAGACCCGACGC chr3:8861134-Reference-C;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Reference C atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaat CGACGACACATC CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccCttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAcgacgacacatcAGATCGAGACCCGACGC chr3:8861134-Reference-C;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Variant T atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaat CTCGGCTAATAA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAActcggctaataaAGATCGAGACCCGACGC chr3:8861134-Variant-T;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative G atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaat CGACATGCGACT CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAcgacatgcgactAGATCGAGACCCGACGC chr3:8861134-Alternative-G;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative G atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaat CGAGTATGGACG CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAcgagtatggacgAGATCGAGACCCGACGC chr3:8861134-Alternative-G;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Variant T atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaat ATCGCTTCACCG CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAatcgcttcaccgAGATCGAGACCCGACGC chr3:8861134-Variant-T;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Variant T atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaat ATCGTGCGACCA CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAatcgtgcgaccaAGATCGAGACCCGACGC chr3:8861134-Variant-T;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative G atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaat ATAGCGTTGGCG CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAatagcgttggcgAGATCGAGACCCGACGC chr3:8861134-Alternative-G;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Variant T atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaat ACTCTCGTAGTT CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAactctcgtagttAGATCGAGACCCGACGC chr3:8861134-Variant-T;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Variant T atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaat ATCGTTATCCGT CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccTttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAatcgttatccgtAGATCGAGACCCGACGC chr3:8861134-Variant-T;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative G atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaat GTCTAGACTATC CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAgtctagactatcAGATCGAGACCCGACGC chr3:8861134-Alternative-G;Patient-110 chr3:8861134-CT DeNovo Patient-110 intergenic NA 3.98e-05 -0.01 2.44 0.34 OXTR 49833 Alternative G atttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaat GTGTTATCCTGT CGACGCGGTCTCTCTCTatttcagtagtgctatagaccagtgagtgttatttgcttcttatttccccGttctgaataaaagttttcattacatctacactttacctgtctcaccaatAGAGGGAGACGGACGTCTCAATAAgtgttatcctgtAGATCGAGACCCGACGC chr3:8861134-Alternative-G;Patient-110 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative C tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa ATAGCTGACGAA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAatagctgacgaaAGATCGAGACCCGACGC chr3:89254641-Alternative-C;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative C tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GTCATGGTATGG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAgtcatggtatggAGATCGAGACCCGACGC chr3:89254641-Alternative-C;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative C tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa AGTAGATGGTCA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAagtagatggtcaAGATCGAGACCCGACGC chr3:89254641-Alternative-C;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative C tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa AGAGTGTATCGG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAagagtgtatcggAGATCGAGACCCGACGC chr3:89254641-Alternative-C;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative C tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GGTATGGTCGCA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgCgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAggtatggtcgcaAGATCGAGACCCGACGC chr3:89254641-Alternative-C;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Variant A tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CTTATATGGTGG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAActtatatggtggAGATCGAGACCCGACGC chr3:89254641-Variant-A;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Variant A tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa ACGCTCGGTTCT CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAacgctcggttctAGATCGAGACCCGACGC chr3:89254641-Variant-A;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Variant A tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CTGCGATTGCGA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAActgcgattgcgaAGATCGAGACCCGACGC chr3:89254641-Variant-A;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Variant A tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GTTATCTGCGAA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAgttatctgcgaaAGATCGAGACCCGACGC chr3:89254641-Variant-A;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Variant A tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GAGACTGTGTGG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgAgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAgagactgtgtggAGATCGAGACCCGACGC chr3:89254641-Variant-A;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative T tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CATCGAACTCAA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAcatcgaactcaaAGATCGAGACCCGACGC chr3:89254641-Alternative-T;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative T tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GATCGCTCTGAG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAgatcgctctgagAGATCGAGACCCGACGC chr3:89254641-Alternative-T;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative T tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa AACAAGATCGCT CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAaacaagatcgctAGATCGAGACCCGACGC chr3:89254641-Alternative-T;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative T tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa ACTAGATCACCA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAactagatcaccaAGATCGAGACCCGACGC chr3:89254641-Alternative-T;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Alternative T tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CATCGAACGGCA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgTgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAcatcgaacggcaAGATCGAGACCCGACGC chr3:89254641-Alternative-T;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Reference G tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CGTTGGAAGTTA CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAcgttggaagttaAGATCGAGACCCGACGC chr3:89254641-Reference-G;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Reference G tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa CTAATTGGCGGC CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAActaattggcggcAGATCGAGACCCGACGC chr3:89254641-Reference-G;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Reference G tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa AGGTTAACGGCG CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAaggttaacggcgAGATCGAGACCCGACGC chr3:89254641-Reference-G;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Reference G tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa GTGTAACGTACT CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAgtgtaacgtactAGATCGAGACCCGACGC chr3:89254641-Reference-G;Patient-30 chr3:89254641-GA Inherited Patient-30 intronic EPHA3 0.000159 4.95e-05 NA NA NA EPHA3 97966 Reference G tgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaa AATCGCTACGAC CGACGCGGTCTCTCTCTtgatgatggagaggtttggtgtggttattttcagaatggactgtccagtgGgagaaagtttggatgcataggtttcttatacttgaaatgatccagagaaAGAGGGAGACGGACGTCTCAATAAaatcgctacgacAGATCGAGACCCGACGC chr3:89254641-Reference-G;Patient-30 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Variant C taaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GTTACTTGTCGT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgttacttgtcgtAGATCGAGACCCGACGC chr3:89256436-Variant-C;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Variant C taaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CTACGCCTAAGG CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAActacgcctaaggAGATCGAGACCCGACGC chr3:89256436-Variant-C;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative A taaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GATCATTCCGAA CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgatcattccgaaAGATCGAGACCCGACGC chr3:89256436-Alternative-A;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Variant C taaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GCGTCCTTCTAC CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgcgtccttctacAGATCGAGACCCGACGC chr3:89256436-Variant-C;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative A taaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CGCTATCAACTT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAcgctatcaacttAGATCGAGACCCGACGC chr3:89256436-Alternative-A;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Variant C taaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag AGTTCCGTGCAT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAagttccgtgcatAGATCGAGACCCGACGC chr3:89256436-Variant-C;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Reference T taaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CGATTGACCAGG CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAcgattgaccaggAGATCGAGACCCGACGC chr3:89256436-Reference-T;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative G taaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag AGCCAACAAGCG CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAagccaacaagcgAGATCGAGACCCGACGC chr3:89256436-Alternative-G;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative G taaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag AGAACCAGTAAC CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAagaaccagtaacAGATCGAGACCCGACGC chr3:89256436-Alternative-G;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Variant C taaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag AGTATACGCGAA CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattCctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAagtatacgcgaaAGATCGAGACCCGACGC chr3:89256436-Variant-C;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative G taaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CTCATATCGACC CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAActcatatcgaccAGATCGAGACCCGACGC chr3:89256436-Alternative-G;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative A taaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GTGTACTCATGA CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgtgtactcatgaAGATCGAGACCCGACGC chr3:89256436-Alternative-A;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Reference T taaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CACTTATGACCA CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAcacttatgaccaAGATCGAGACCCGACGC chr3:89256436-Reference-T;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative G taaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GTATCGCTTGTT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgtatcgcttgttAGATCGAGACCCGACGC chr3:89256436-Alternative-G;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative G taaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag CGTAACGGTCGT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattGctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAcgtaacggtcgtAGATCGAGACCCGACGC chr3:89256436-Alternative-G;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Reference T taaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag ACGAATCTCGCG CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAacgaatctcgcgAGATCGAGACCCGACGC chr3:89256436-Reference-T;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Reference T taaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag AATACGCGGATT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAaatacgcggattAGATCGAGACCCGACGC chr3:89256436-Reference-T;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Reference T taaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GTACTGATGACC CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattTctgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgtactgatgaccAGATCGAGACCCGACGC chr3:89256436-Reference-T;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative A taaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag GCGATTCGTCCT CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAgcgattcgtcctAGATCGAGACCCGACGC chr3:89256436-Alternative-A;Patient-55 chr3:89256436-TC Inherited Patient-55 intronic EPHA3 NA 4.95e-05 -0.18 0.82 -2.6 EPHA3 99761 Alternative A taaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggag ACACCTACAACA CGACGCGGTCTCTCTCTtaaattaatattttattttattttgtgattagaaggtgtgaattaaaattActgtgtctttaaagatggcaacaataaaaactagggactgctgaaggagAGAGGGAGACGGACGTCTCAATAAacacctacaacaAGATCGAGACCCGACGC chr3:89256436-Alternative-A;Patient-55 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Reference T ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga AGGTGTCGCTGT CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAaggtgtcgctgtAGATCGAGACCCGACGC chr3:8991471-Reference-T;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative G ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CTTACTGCGTAA CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAActtactgcgtaaAGATCGAGACCCGACGC chr3:8991471-Alternative-G;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative G ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CTAGGTTAGGTT CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAActaggttaggttAGATCGAGACCCGACGC chr3:8991471-Alternative-G;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative G ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CGATTAATTCGG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAcgattaattcggAGATCGAGACCCGACGC chr3:8991471-Alternative-G;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative G ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GCGGACGATCAT CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAgcggacgatcatAGATCGAGACCCGACGC chr3:8991471-Alternative-G;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative G ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CAACTAATGTGG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccGgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAcaactaatgtggAGATCGAGACCCGACGC chr3:8991471-Alternative-G;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Variant C ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GGAATACGGTCG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAggaatacggtcgAGATCGAGACCCGACGC chr3:8991471-Variant-C;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Variant C ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga ACGAACCAGTAA CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAacgaaccagtaaAGATCGAGACCCGACGC chr3:8991471-Variant-C;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Variant C ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GCAATGGCATGT CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAgcaatggcatgtAGATCGAGACCCGACGC chr3:8991471-Variant-C;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Variant C ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CGCCTTCTTAGG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAcgccttcttaggAGATCGAGACCCGACGC chr3:8991471-Variant-C;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Variant C ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CTAGCTTCGGAG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccCgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAActagcttcggagAGATCGAGACCCGACGC chr3:8991471-Variant-C;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative A ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga ACTAACCTAACG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAactaacctaacgAGATCGAGACCCGACGC chr3:8991471-Alternative-A;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative A ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GCGACGAGATCA CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAgcgacgagatcaAGATCGAGACCCGACGC chr3:8991471-Alternative-A;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative A ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga ACGTGTTGCGAC CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAacgtgttgcgacAGATCGAGACCCGACGC chr3:8991471-Alternative-A;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative A ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga CAAGAGATCCGC CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAcaagagatccgcAGATCGAGACCCGACGC chr3:8991471-Alternative-A;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Alternative A ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GGAATGGTTCCA CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccAgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAggaatggttccaAGATCGAGACCCGACGC chr3:8991471-Alternative-A;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Reference T ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga GTTAGCTTCTGT CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAgttagcttctgtAGATCGAGACCCGACGC chr3:8991471-Reference-T;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Reference T ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga ACGTTCACAAGG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAacgttcacaaggAGATCGAGACCCGACGC chr3:8991471-Reference-T;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Reference T ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga ACTTATACGTCC CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAacttatacgtccAGATCGAGACCCGACGC chr3:8991471-Reference-T;Patient-30 chr3:8991471-TC Inherited Patient-30 intronic RAD18 0.000733 0.000148 NA NA NA RAD18 13687 Reference T ggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgaga AACACCAACGCG CGACGCGGTCTCTCTCTggaaccagaggagaaacctgtgctggaaccagtgctggggtgggagaaccTgagctgtaattgacgaattgctggcggctcagtgtgggcaagtctgagaAGAGGGAGACGGACGTCTCAATAAaacaccaacgcgAGATCGAGACCCGACGC chr3:8991471-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Variant C actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GGAACCTGTAAC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAggaacctgtaacAGATCGAGACCCGACGC chr3:9003026-Variant-C;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Variant C actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AGCTGCGGAGAA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAagctgcggagaaAGATCGAGACCCGACGC chr3:9003026-Variant-C;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Variant C actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GTTATCGCCAAC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAgttatcgccaacAGATCGAGACCCGACGC chr3:9003026-Variant-C;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Variant C actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AAGTAGGTAGTC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaagtaggtagtcAGATCGAGACCCGACGC chr3:9003026-Variant-C;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative A actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt CAAGCGATTCGG CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAcaagcgattcggAGATCGAGACCCGACGC chr3:9003026-Alternative-A;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative A actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt CAACCGACTGAC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAcaaccgactgacAGATCGAGACCCGACGC chr3:9003026-Alternative-A;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Variant C actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GACCTCGGACTA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagCagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAgacctcggactaAGATCGAGACCCGACGC chr3:9003026-Variant-C;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative A actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GGTTCAACTAGT CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAggttcaactagtAGATCGAGACCCGACGC chr3:9003026-Alternative-A;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative A actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt CTCTCTTCGTGC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAActctcttcgtgcAGATCGAGACCCGACGC chr3:9003026-Alternative-A;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative A actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AAGGAGGTTATC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagAagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaaggaggttatcAGATCGAGACCCGACGC chr3:9003026-Alternative-A;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Reference T actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GTACCGATTAAG CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAgtaccgattaagAGATCGAGACCCGACGC chr3:9003026-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Reference T actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GTCAACATCACA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAgtcaacatcacaAGATCGAGACCCGACGC chr3:9003026-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Reference T actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt GGATGAAGACGG CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAggatgaagacggAGATCGAGACCCGACGC chr3:9003026-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Reference T actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt CTCATCGTGTTA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAActcatcgtgttaAGATCGAGACCCGACGC chr3:9003026-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Reference T actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt ATCGTAACCGGC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagTagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAatcgtaaccggcAGATCGAGACCCGACGC chr3:9003026-Reference-T;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative G actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt ACGTTAACGTGT CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAacgttaacgtgtAGATCGAGACCCGACGC chr3:9003026-Alternative-G;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative G actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AATAGCCGCCGA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaatagccgccgaAGATCGAGACCCGACGC chr3:9003026-Alternative-G;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative G actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AGGAGTCACGTC CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaggagtcacgtcAGATCGAGACCCGACGC chr3:9003026-Alternative-G;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative G actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt ACCAATAGTCGT CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaccaatagtcgtAGATCGAGACCCGACGC chr3:9003026-Alternative-G;Patient-30 chr3:9003026-TC Inherited Patient-30 intronic RAD18 0.000733 4.95e-05 NA NA NA RAD18 2132 Alternative G actccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagtttt AATGTATCGCCA CGACGCGGTCTCTCTCTactccccaaaatttctttagtttagagagagagaaagtgaaagggagaagGagaaaatgggtggaaaaacgtaataattacaaaaatactcttaagttttAGAGGGAGACGGACGTCTCAATAAaatgtatcgccaAGATCGAGACCCGACGC chr3:9003026-Alternative-G;Patient-30 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative A actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact ACTCAACACCGT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAactcaacaccgtAGATCGAGACCCGACGC chr3:9058488-Alternative-A;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative A actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact AGGAGTATTCGA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAaggagtattcgaAGATCGAGACCCGACGC chr3:9058488-Alternative-A;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Variant C actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CGAATCATACGC CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcgaatcatacgcAGATCGAGACCCGACGC chr3:9058488-Variant-C;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Variant C actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact AGGTTCGACGAG CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAaggttcgacgagAGATCGAGACCCGACGC chr3:9058488-Variant-C;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Variant C actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact GGTGTCGATTAT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAggtgtcgattatAGATCGAGACCCGACGC chr3:9058488-Variant-C;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative A actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CAGACGCTCATA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcagacgctcataAGATCGAGACCCGACGC chr3:9058488-Alternative-A;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Variant C actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CACACAGCTCTT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcacacagctcttAGATCGAGACCCGACGC chr3:9058488-Variant-C;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative G actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact GTAAGGCAGTAT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAgtaaggcagtatAGATCGAGACCCGACGC chr3:9058488-Alternative-G;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative G actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CATCTCGACTAT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcatctcgactatAGATCGAGACCCGACGC chr3:9058488-Alternative-G;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative G actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CGTGCTAGGATA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcgtgctaggataAGATCGAGACCCGACGC chr3:9058488-Alternative-G;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Variant C actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CACGTCCATCGT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgCatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcacgtccatcgtAGATCGAGACCCGACGC chr3:9058488-Variant-C;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative G actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact GGCGCTATATCG CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAggcgctatatcgAGATCGAGACCCGACGC chr3:9058488-Alternative-G;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative G actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CGCTCTCAACTA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgGatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcgctctcaactaAGATCGAGACCCGACGC chr3:9058488-Alternative-G;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Reference T actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CGCGATACGAGA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcgcgatacgagaAGATCGAGACCCGACGC chr3:9058488-Reference-T;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Reference T actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact GTCATGTGGTAA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAgtcatgtggtaaAGATCGAGACCCGACGC chr3:9058488-Reference-T;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Reference T actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact ATCAAGGTTCGT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAatcaaggttcgtAGATCGAGACCCGACGC chr3:9058488-Reference-T;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative A actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CATGTGGCCGAA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcatgtggccgaaAGATCGAGACCCGACGC chr3:9058488-Alternative-A;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Reference T actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CAGATGCCGAGT CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAcagatgccgagtAGATCGAGACCCGACGC chr3:9058488-Reference-T;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Reference T actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact CTGCTAGGCTGA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgTatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAActgctaggctgaAGATCGAGACCCGACGC chr3:9058488-Reference-T;Patient-28 chr3:9058488-TC DeNovo Patient-28 intronic SRGAP3 NA 4.95e-05 0.19 5.72 1.01 RAD18 53328 Alternative A actggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccact GACAAGGTAGAA CGACGCGGTCTCTCTCTactggggttgcaaaacggtgactttctaattatgtcatttcttctctgtgAatcagcaggcattcttttgtaaagaagagctgtcttcctgtcccccactAGAGGGAGACGGACGTCTCAATAAgacaaggtagaaAGATCGAGACCCGACGC chr3:9058488-Alternative-A;Patient-28 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative T gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AATGCTCGCGCA CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaatgctcgcgcaAGATCGAGACCCGACGC chr3:93602655-Alternative-T;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Variant A gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag GCAGTATGTGAA CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAgcagtatgtgaaAGATCGAGACCCGACGC chr3:93602655-Variant-A;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Variant A gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag GCAGACGTCTAC CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAgcagacgtctacAGATCGAGACCCGACGC chr3:93602655-Variant-A;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Variant A gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag CTATAAGGACCT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAActataaggacctAGATCGAGACCCGACGC chr3:93602655-Variant-A;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Variant A gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AGTCGTAAGTCT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAagtcgtaagtctAGATCGAGACCCGACGC chr3:93602655-Variant-A;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative C gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AACCGGTCCTAC CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaaccggtcctacAGATCGAGACCCGACGC chr3:93602655-Alternative-C;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative C gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag CAGTCCGGATGA CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAcagtccggatgaAGATCGAGACCCGACGC chr3:93602655-Alternative-C;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative C gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AACAGCGACGAC CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaacagcgacgacAGATCGAGACCCGACGC chr3:93602655-Alternative-C;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative T gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AATGACTTACGG CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaatgacttacggAGATCGAGACCCGACGC chr3:93602655-Alternative-T;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Reference G gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag ACACGCGTGCTA CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAacacgcgtgctaAGATCGAGACCCGACGC chr3:93602655-Reference-G;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative T gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag ATAGGTAGACAC CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAataggtagacacAGATCGAGACCCGACGC chr3:93602655-Alternative-T;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Variant A gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag ACGGCATGTCGT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcAtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAacggcatgtcgtAGATCGAGACCCGACGC chr3:93602655-Variant-A;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Reference G gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AGTAGGACGTAT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAagtaggacgtatAGATCGAGACCCGACGC chr3:93602655-Reference-G;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative C gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag CTCGGAAGCAAG CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAActcggaagcaagAGATCGAGACCCGACGC chr3:93602655-Alternative-C;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative C gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AGATTGGTGGAT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcCtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAagattggtggatAGATCGAGACCCGACGC chr3:93602655-Alternative-C;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative T gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag CGCGAACGTAGT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAcgcgaacgtagtAGATCGAGACCCGACGC chr3:93602655-Alternative-T;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Alternative T gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AGGCCGGTGTTA CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcTtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaggccggtgttaAGATCGAGACCCGACGC chr3:93602655-Alternative-T;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Reference G gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag GTAGGACGACGT CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAgtaggacgacgtAGATCGAGACCCGACGC chr3:93602655-Reference-G;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Reference G gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag CTAAGGCTAGCG CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAActaaggctagcgAGATCGAGACCCGACGC chr3:93602655-Reference-G;Patient-53 chr3:93602655-GA DeNovo Patient-53 intronic PROS1 0.000512 4.95e-05 -0.43 0.14 -0.3 PROS1 90278 Reference G gttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaag AATAGGTGAACC CGACGCGGTCTCTCTCTgttcaaaaccagcctggccaaaaacacaaaaatacaaaaattagccgggcGtggtggcgggcgcctgtagttctagctactcaggaggctgaggcagaagAGAGGGAGACGGACGTCTCAATAAaataggtgaaccAGATCGAGACCCGACGC chr3:93602655-Reference-G;Patient-53 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Variant T tttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctat GAGCAATGGAAC CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgagcaatggaacAGATCGAGACCCGACGC chr3:96576553-Variant-T;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Variant T tttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctat ATAGGTGCGTGG CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAataggtgcgtggAGATCGAGACCCGACGC chr3:96576553-Variant-T;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative A tttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctat CAACGACGCCAA CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAcaacgacgccaaAGATCGAGACCCGACGC chr3:96576553-Alternative-A;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative A tttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctat GTTACGTGTAGT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgttacgtgtagtAGATCGAGACCCGACGC chr3:96576553-Alternative-A;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Variant T tttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctat AATACCGCGTAT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAaataccgcgtatAGATCGAGACCCGACGC chr3:96576553-Variant-T;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative A tttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctat ACCGCATTCCTA CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAaccgcattcctaAGATCGAGACCCGACGC chr3:96576553-Alternative-A;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Variant T tttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctat AATACGGACTTC CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAaatacggacttcAGATCGAGACCCGACGC chr3:96576553-Variant-T;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative A tttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctat GGTCTTATTCGT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAggtcttattcgtAGATCGAGACCCGACGC chr3:96576553-Alternative-A;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative C tttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctat CTTACATGTCAC CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAActtacatgtcacAGATCGAGACCCGACGC chr3:96576553-Alternative-C;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative C tttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctat GCATATTGCCAT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgcatattgccatAGATCGAGACCCGACGC chr3:96576553-Alternative-C;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Variant T tttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctat AGTGTACGCCAC CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctTttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAagtgtacgccacAGATCGAGACCCGACGC chr3:96576553-Variant-T;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative C tttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctat GTCAATGCGTCT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgtcaatgcgtctAGATCGAGACCCGACGC chr3:96576553-Alternative-C;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative C tttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctat CTGCTCACGTGT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAActgctcacgtgtAGATCGAGACCCGACGC chr3:96576553-Alternative-C;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Reference G tttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctat GATTGTTGCGAA CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgattgttgcgaaAGATCGAGACCCGACGC chr3:96576553-Reference-G;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative A tttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctat GGCTGCTGTCTT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctAttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAggctgctgtcttAGATCGAGACCCGACGC chr3:96576553-Alternative-A;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Alternative C tttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctat GTAGCGGACGAA CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctCttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgtagcggacgaaAGATCGAGACCCGACGC chr3:96576553-Alternative-C;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Reference G tttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctat GAGTCATCTAAC CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgagtcatctaacAGATCGAGACCCGACGC chr3:96576553-Reference-G;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Reference G tttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctat GTTGGATATGCT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgttggatatgctAGATCGAGACCCGACGC chr3:96576553-Reference-G;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Reference G tttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctat AGATGCAGCATA CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAagatgcagcataAGATCGAGACCCGACGC chr3:96576553-Reference-G;Patient-93 chr3:96576553-GT DeNovo Patient-93 intronic EPHA6 NA 4.95e-05 -0.17 0.88 -0.79 EPHA6 43127 Reference G tttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctat GTACGGTCAGCT CGACGCGGTCTCTCTCTtttaagtcttcacatttttcctgcccatttctctcattatagactactctGttctacaggcagtattacttactaaactactacaatccaatttagctatAGAGGGAGACGGACGTCTCAATAAgtacggtcagctAGATCGAGACCCGACGC chr3:96576553-Reference-G;Patient-93 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Variant G atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatag CGGTGTAAGTTA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAcggtgtaagttaAGATCGAGACCCGACGC chr3:98400336-Variant-G;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Reference A atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatag ACAGGCTCTCGA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAacaggctctcgaAGATCGAGACCCGACGC chr3:98400336-Reference-A;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Variant G atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GTTGACCGACAT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgttgaccgacatAGATCGAGACCCGACGC chr3:98400336-Variant-G;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Variant G atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GATGAGTATCGA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgatgagtatcgaAGATCGAGACCCGACGC chr3:98400336-Variant-G;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Variant G atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GTACCGGTGTTC CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgtaccggtgttcAGATCGAGACCCGACGC chr3:98400336-Variant-G;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative C atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatag ACTAGCGAGTCT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAactagcgagtctAGATCGAGACCCGACGC chr3:98400336-Alternative-C;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Reference A atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatag CGGACATATTGA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAcggacatattgaAGATCGAGACCCGACGC chr3:98400336-Reference-A;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative C atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GCATGAAGACTA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgcatgaagactaAGATCGAGACCCGACGC chr3:98400336-Alternative-C;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative C atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatag ACACGGACCTTA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAacacggaccttaAGATCGAGACCCGACGC chr3:98400336-Alternative-C;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative T atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatag CGGCACCATAGT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAcggcaccatagtAGATCGAGACCCGACGC chr3:98400336-Alternative-T;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative T atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GTTAGCCGATAA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgttagccgataaAGATCGAGACCCGACGC chr3:98400336-Alternative-T;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Variant G atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GTGTAGAAGGTT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatGtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgtgtagaaggttAGATCGAGACCCGACGC chr3:98400336-Variant-G;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative C atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatag AATGAAGTACGG CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAaatgaagtacggAGATCGAGACCCGACGC chr3:98400336-Alternative-C;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative T atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatag AGACGGAGCTTA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAagacggagcttaAGATCGAGACCCGACGC chr3:98400336-Alternative-T;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative T atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GAAGATTGCCGA CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgaagattgccgaAGATCGAGACCCGACGC chr3:98400336-Alternative-T;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Reference A atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatag CAGGTCAATACT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAcaggtcaatactAGATCGAGACCCGACGC chr3:98400336-Reference-A;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative C atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatag GTCGCACTAAGT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatCtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAgtcgcactaagtAGATCGAGACCCGACGC chr3:98400336-Alternative-C;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Alternative T atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatag ACGATTCTGTTC CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatTtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAacgattctgttcAGATCGAGACCCGACGC chr3:98400336-Alternative-T;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Reference A atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatag AGATACCGGTCT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAagataccggtctAGATCGAGACCCGACGC chr3:98400336-Reference-A;Patient-8 chr3:98400336-AG DeNovo Patient-8 intergenic 0.00033 0.000513 -0.15 1.02 0 CPOX 87880 Reference A atatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatag CACGCTCATGCT CGACGCGGTCTCTCTCTatatatatgtgtgtgtgtgtgtgtatatatatatatatatatatatatatAtatatatatatatagcagagttggtgtagctgacaagacagccgaatagAGAGGGAGACGGACGTCTCAATAAcacgctcatgctAGATCGAGACCCGACGC chr3:98400336-Reference-A;Patient-8 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative A ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag AACGTAGTGACA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAaacgtagtgacaAGATCGAGACCCGACGC chr4:100795566-Alternative-A;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative A ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag CGACTTCGTCAC CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAcgacttcgtcacAGATCGAGACCCGACGC chr4:100795566-Alternative-A;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative G ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTGTCGTCCGAA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtgtcgtccgaaAGATCGAGACCCGACGC chr4:100795566-Alternative-G;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative G ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag ACACGAATTGAC CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAacacgaattgacAGATCGAGACCCGACGC chr4:100795566-Alternative-G;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Variant T ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag CGGTACAGAGAT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAcggtacagagatAGATCGAGACCCGACGC chr4:100795566-Variant-T;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative A ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTCATCGCGTCA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtcatcgcgtcaAGATCGAGACCCGACGC chr4:100795566-Alternative-A;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Reference C ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GATCAACACACG CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgatcaacacacgAGATCGAGACCCGACGC chr4:100795566-Reference-C;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative G ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTTCACATCGTT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgttcacatcgttAGATCGAGACCCGACGC chr4:100795566-Alternative-G;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative A ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTGTTCGGCCTT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtgttcggccttAGATCGAGACCCGACGC chr4:100795566-Alternative-A;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Variant T ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTAGTACGTGAA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtagtacgtgaaAGATCGAGACCCGACGC chr4:100795566-Variant-T;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Variant T ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTGATCGTCGAC CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtgatcgtcgacAGATCGAGACCCGACGC chr4:100795566-Variant-T;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Reference C ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag AGTACACACGAA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAagtacacacgaaAGATCGAGACCCGACGC chr4:100795566-Reference-C;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Variant T ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag ACTGTGTCTGAA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAactgtgtctgaaAGATCGAGACCCGACGC chr4:100795566-Variant-T;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative A ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag CTCATATGGCTT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcAtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAActcatatggcttAGATCGAGACCCGACGC chr4:100795566-Alternative-A;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative G ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag ACTACAATGTCG CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAactacaatgtcgAGATCGAGACCCGACGC chr4:100795566-Alternative-G;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Variant T ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GAATGCCTAGAA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcTtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgaatgcctagaaAGATCGAGACCCGACGC chr4:100795566-Variant-T;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Reference C ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag ATCACGATGACG CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAatcacgatgacgAGATCGAGACCCGACGC chr4:100795566-Reference-C;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Reference C ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag ACGTGATCCGTT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAacgtgatccgttAGATCGAGACCCGACGC chr4:100795566-Reference-C;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Alternative G ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag GTCGAAGACCTT CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcGtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAgtcgaagaccttAGATCGAGACCCGACGC chr4:100795566-Alternative-G;Patient-50 chr4:100795566-CT DeNovo Patient-50 intergenic NA 0.000513 0.1 4.35 0 DAPP1 57584 Reference C ttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcag CGGATTAGCATA CGACGCGGTCTCTCTCTttaattttcttcaaaaatgtttcctttgtgctgggcatggtggctcacgcCtataatcccaacactttgggaggccgaggcgggcagataaagaggtcagAGAGGGAGACGGACGTCTCAATAAcggattagcataAGATCGAGACCCGACGC chr4:100795566-Reference-C;Patient-50 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Variant G tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GTTGGCAATCAT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgttggcaatcatAGATCGAGACCCGACGC chr4:100889454-Variant-G;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Variant G tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATCGCAGTCATT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAatcgcagtcattAGATCGAGACCCGACGC chr4:100889454-Variant-G;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Variant G tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATCCGGAAGTAA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAatccggaagtaaAGATCGAGACCCGACGC chr4:100889454-Variant-G;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative T tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GCATCTATGCTA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgcatctatgctaAGATCGAGACCCGACGC chr4:100889454-Alternative-T;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Variant G tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa CATCAGTACGCA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAcatcagtacgcaAGATCGAGACCCGACGC chr4:100889454-Variant-G;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative T tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa CTATCTGTCGCG CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAActatctgtcgcgAGATCGAGACCCGACGC chr4:100889454-Alternative-T;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative T tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATATACCGGCAA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAatataccggcaaAGATCGAGACCCGACGC chr4:100889454-Alternative-T;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative T tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa CGGATCAACACG CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAcggatcaacacgAGATCGAGACCCGACGC chr4:100889454-Alternative-T;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Variant G tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa AATGCGGAGTAA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaGtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAaatgcggagtaaAGATCGAGACCCGACGC chr4:100889454-Variant-G;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative T tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATTATGGTCGGT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaTtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAattatggtcggtAGATCGAGACCCGACGC chr4:100889454-Alternative-T;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Reference A tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GTCGTGATCGAC CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgtcgtgatcgacAGATCGAGACCCGACGC chr4:100889454-Reference-A;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Reference A tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATTCCGATGCGC CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAattccgatgcgcAGATCGAGACCCGACGC chr4:100889454-Reference-A;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Reference A tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa AGGCTGCCTAGT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAaggctgcctagtAGATCGAGACCCGACGC chr4:100889454-Reference-A;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Reference A tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GTGTAAGCCAAG CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgtgtaagccaagAGATCGAGACCCGACGC chr4:100889454-Reference-A;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative C tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa CGAATCTCGTGT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAcgaatctcgtgtAGATCGAGACCCGACGC chr4:100889454-Alternative-C;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative C tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ATAGTGCATGCT CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAatagtgcatgctAGATCGAGACCCGACGC chr4:100889454-Alternative-C;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative C tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GCGGTTCTAGTC CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgcggttctagtcAGATCGAGACCCGACGC chr4:100889454-Alternative-C;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Reference A tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa ACGATATCTGAC CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaAtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAacgatatctgacAGATCGAGACCCGACGC chr4:100889454-Reference-A;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative C tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa CGCTAGGTTCTA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAcgctaggttctaAGATCGAGACCCGACGC chr4:100889454-Alternative-C;Patient-33 chr4:100889454-AG DeNovo Patient-33 intergenic NA 0.000513 NA NA NA H2AFZ 17941 Alternative C tgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaa GTACGCCAATGA CGACGCGGTCTCTCTCTtgcctagtatcttctgtatcctcaaaaattattaactggcatttctcaaaCtttggtgcatatcagaatcctggggccgagaatggaggggaggtggaaaAGAGGGAGACGGACGTCTCAATAAgtacgccaatgaAGATCGAGACCCGACGC chr4:100889454-Alternative-C;Patient-33 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Variant G gggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CGGTATCCGACT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAcggtatccgactAGATCGAGACCCGACGC chr4:10128892-Variant-G;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Variant G gggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AGCGTGCAACCT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAagcgtgcaacctAGATCGAGACCCGACGC chr4:10128892-Variant-G;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Variant G gggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CTCGTCATTCGG CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAActcgtcattcggAGATCGAGACCCGACGC chr4:10128892-Variant-G;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Variant G gggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GAGCAATGTAAG CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAgagcaatgtaagAGATCGAGACCCGACGC chr4:10128892-Variant-G;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Variant G gggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CTAATCGCGCGT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactGacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAActaatcgcgcgtAGATCGAGACCCGACGC chr4:10128892-Variant-G;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative T gggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GGCCGTGACATA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAggccgtgacataAGATCGAGACCCGACGC chr4:10128892-Alternative-T;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative T gggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CGTTGTCTATAC CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAcgttgtctatacAGATCGAGACCCGACGC chr4:10128892-Alternative-T;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative T gggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AAGTGATCGTTC CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAaagtgatcgttcAGATCGAGACCCGACGC chr4:10128892-Alternative-T;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative T gggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GACAACGCGTGT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAgacaacgcgtgtAGATCGAGACCCGACGC chr4:10128892-Alternative-T;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative T gggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GACCTGCTCGAA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactTacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAgacctgctcgaaAGATCGAGACCCGACGC chr4:10128892-Alternative-T;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Reference A gggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AAGCGGATGCGT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAaagcggatgcgtAGATCGAGACCCGACGC chr4:10128892-Reference-A;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Reference A gggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GAGTAGAACACG CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAgagtagaacacgAGATCGAGACCCGACGC chr4:10128892-Reference-A;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative C gggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AGGTGGATAAGA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAaggtggataagaAGATCGAGACCCGACGC chr4:10128892-Alternative-C;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative C gggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AGCATCGCTCGA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAagcatcgctcgaAGATCGAGACCCGACGC chr4:10128892-Alternative-C;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative C gggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GGATGGTGGAGA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAggatggtggagaAGATCGAGACCCGACGC chr4:10128892-Alternative-C;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative C gggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt GCGTCCAATTAA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAgcgtccaattaaAGATCGAGACCCGACGC chr4:10128892-Alternative-C;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Reference A gggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AGTAGCTACGTT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAagtagctacgttAGATCGAGACCCGACGC chr4:10128892-Reference-A;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Reference A gggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CTCTAACCGGAC CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAActctaaccggacAGATCGAGACCCGACGC chr4:10128892-Reference-A;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Reference A gggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt CATTGATGTGCA CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactAacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAcattgatgtgcaAGATCGAGACCCGACGC chr4:10128892-Reference-A;Patient-68 chr4:10128892-AG DeNovo Patient-68 intergenic 0.000287 0.00205 0.04 3.24 1.25 WDR1 10318 Alternative C gggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggt AAGTTCGTCGAT CGACGCGGTCTCTCTCTgggtatcttggccataaagatacaaatttccattctataacaaaatcactCacatgatcaaaaatggtttgacaggataccaaatagaacacttgagggtAGAGGGAGACGGACGTCTCAATAAaagttcgtcgatAGATCGAGACCCGACGC chr4:10128892-Alternative-C;Patient-68 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Reference T atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc CTACGGCTTCGT CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAActacggcttcgtAGATCGAGACCCGACGC chr4:102260184-Reference-T;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Variant A atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagc CTTAAGGCTACA CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAActtaaggctacaAGATCGAGACCCGACGC chr4:102260184-Variant-A;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Reference T atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GTTGATTGTCCT CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgttgattgtcctAGATCGAGACCCGACGC chr4:102260184-Reference-T;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Reference T atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc CGTTCTCGATCG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAcgttctcgatcgAGATCGAGACCCGACGC chr4:102260184-Reference-T;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Reference T atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GGATCTCAATCA CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAggatctcaatcaAGATCGAGACCCGACGC chr4:102260184-Reference-T;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Variant A atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GAATCTCGGAGT CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgaatctcggagtAGATCGAGACCCGACGC chr4:102260184-Variant-A;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative G atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GCGATTGACAGG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgcgattgacaggAGATCGAGACCCGACGC chr4:102260184-Alternative-G;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative C atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ACGTTGTGGTTA CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAacgttgtggttaAGATCGAGACCCGACGC chr4:102260184-Alternative-C;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative C atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GCCAGGATTGAG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgccaggattgagAGATCGAGACCCGACGC chr4:102260184-Alternative-C;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Variant A atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ACGAAGACATCG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAacgaagacatcgAGATCGAGACCCGACGC chr4:102260184-Variant-A;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Variant A atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagc AATGTCCTATCG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAaatgtcctatcgAGATCGAGACCCGACGC chr4:102260184-Variant-A;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative C atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ATCACGAGGTGG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAatcacgaggtggAGATCGAGACCCGACGC chr4:102260184-Alternative-C;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative G atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc AATGTCTCGCGG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAaatgtctcgcggAGATCGAGACCCGACGC chr4:102260184-Alternative-G;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Variant A atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ACGCATAAGTCT CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaActaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAacgcataagtctAGATCGAGACCCGACGC chr4:102260184-Variant-A;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative C atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc AGCCACGTGCAT CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAagccacgtgcatAGATCGAGACCCGACGC chr4:102260184-Alternative-C;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Reference T atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GCAGCATTGTGC CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaTctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgcagcattgtgcAGATCGAGACCCGACGC chr4:102260184-Reference-T;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative C atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ACTCTAGTGACA CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaCctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAactctagtgacaAGATCGAGACCCGACGC chr4:102260184-Alternative-C;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative G atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc GTCGTACTGCGA CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAgtcgtactgcgaAGATCGAGACCCGACGC chr4:102260184-Alternative-G;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative G atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc AATCGGTGTCGG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAaatcggtgtcggAGATCGAGACCCGACGC chr4:102260184-Alternative-G;Patient-32 chr4:102260184-TA DeNovo Patient-32 intronic PPP3CA 0.000637 9.9e-05 -0.14 1.07 -1.97 PPP3CA 8443 Alternative G atgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagc ATCGAATAAGCG CGACGCGGTCTCTCTCTatgttttaaaaacaaatgtcaacggatggctcaaagcccacttgtgagaaGctaaggagacagcagcgttagtgccacctttttcttaacttttcatagcAGAGGGAGACGGACGTCTCAATAAatcgaataagcgAGATCGAGACCCGACGC chr4:102260184-Alternative-G;Patient-32 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Variant C agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc AGTCAACGGCAG CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAagtcaacggcagAGATCGAGACCCGACGC chr4:103364143-Variant-C;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Variant C agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GACGATACGGCA CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAgacgatacggcaAGATCGAGACCCGACGC chr4:103364143-Variant-C;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Variant C agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc CGTACATTGTTC CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAcgtacattgttcAGATCGAGACCCGACGC chr4:103364143-Variant-C;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Variant C agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc CAGCGGTGTAAC CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAcagcggtgtaacAGATCGAGACCCGACGC chr4:103364143-Variant-C;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Variant C agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc CTTAATTGCGGT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgCctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAActtaattgcggtAGATCGAGACCCGACGC chr4:103364143-Variant-C;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative A agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc AGAACCAGTACA CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAagaaccagtacaAGATCGAGACCCGACGC chr4:103364143-Alternative-A;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative A agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc ACGACTTCGAAT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAacgacttcgaatAGATCGAGACCCGACGC chr4:103364143-Alternative-A;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative A agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc ACAGATGTATCG CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAacagatgtatcgAGATCGAGACCCGACGC chr4:103364143-Alternative-A;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Reference T agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc AGCGTCTTCAGG CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAagcgtcttcaggAGATCGAGACCCGACGC chr4:103364143-Reference-T;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative A agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc AGTAAGTCGAGT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAagtaagtcgagtAGATCGAGACCCGACGC chr4:103364143-Alternative-A;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Reference T agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GATACGAATCGA CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAgatacgaatcgaAGATCGAGACCCGACGC chr4:103364143-Reference-T;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative A agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc ACCTACGATCGG CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgActctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAacctacgatcggAGATCGAGACCCGACGC chr4:103364143-Alternative-A;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Reference T agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GTTACCTGCGAG CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAgttacctgcgagAGATCGAGACCCGACGC chr4:103364143-Reference-T;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative G agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc CGCGACTATAAT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAcgcgactataatAGATCGAGACCCGACGC chr4:103364143-Alternative-G;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative G agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc ACGCCTTCGTTC CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAacgccttcgttcAGATCGAGACCCGACGC chr4:103364143-Alternative-G;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative G agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GTTCCGGACAAC CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAgttccggacaacAGATCGAGACCCGACGC chr4:103364143-Alternative-G;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Reference T agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc AGCGCACATTAT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAagcgcacattatAGATCGAGACCCGACGC chr4:103364143-Reference-T;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Reference T agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GTTCCAATTCGT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgTctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAgttccaattcgtAGATCGAGACCCGACGC chr4:103364143-Reference-T;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative G agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc GGTTATCCGCTT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAggttatccgcttAGATCGAGACCCGACGC chr4:103364143-Alternative-G;Patient-68 chr4:103364143-TC Inherited Patient-68 intergenic 3.2e-05 0.00103 0.08 3.91 0.6 NFKB1 58342 Alternative G agccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgc CGACGGAGTCAT CGACGCGGTCTCTCTCTagccttaaggtttatttgaccttccccctacctcctttcgctcaatcctgGctctctcaaagcacaaggtgaagttgttctctgaagatcccttgtctgcAGAGGGAGACGGACGTCTCAATAAcgacggagtcatAGATCGAGACCCGACGC chr4:103364143-Alternative-G;Patient-68 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Reference G ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct AAGGAGGAGTAT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAaaggaggagtatAGATCGAGACCCGACGC chr4:104127606-Reference-G;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Reference G ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTTGCATATGCT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActtgcatatgctAGATCGAGACCCGACGC chr4:104127606-Reference-G;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Reference G ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct AACGCATTGACC CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAaacgcattgaccAGATCGAGACCCGACGC chr4:104127606-Reference-G;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Variant T ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTCGCGCTAACA CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActcgcgctaacaAGATCGAGACCCGACGC chr4:104127606-Variant-T;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Variant T ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTGCGTGGTCTT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActgcgtggtcttAGATCGAGACCCGACGC chr4:104127606-Variant-T;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Reference G ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTAATAGGACCT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActaataggacctAGATCGAGACCCGACGC chr4:104127606-Reference-G;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Reference G ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GTAAGGCTGTAA CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcGccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAgtaaggctgtaaAGATCGAGACCCGACGC chr4:104127606-Reference-G;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Variant T ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GGATACGAGATT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAggatacgagattAGATCGAGACCCGACGC chr4:104127606-Variant-T;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative A ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GATTGCAGCGTC CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAgattgcagcgtcAGATCGAGACCCGACGC chr4:104127606-Alternative-A;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Variant T ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct AACGGCGCTTGT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAaacggcgcttgtAGATCGAGACCCGACGC chr4:104127606-Variant-T;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Variant T ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTTACGTAGGCG CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcTccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActtacgtaggcgAGATCGAGACCCGACGC chr4:104127606-Variant-T;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative A ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CAACGACGGCTA CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAcaacgacggctaAGATCGAGACCCGACGC chr4:104127606-Alternative-A;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative A ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GCAAGATAGGTT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAgcaagataggttAGATCGAGACCCGACGC chr4:104127606-Alternative-A;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative A ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct ACTTACGCGTAT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAacttacgcgtatAGATCGAGACCCGACGC chr4:104127606-Alternative-A;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative C ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTATACCTTCGT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActataccttcgtAGATCGAGACCCGACGC chr4:104127606-Alternative-C;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative C ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct ATTGGACGGACG CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAattggacggacgAGATCGAGACCCGACGC chr4:104127606-Alternative-C;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative A ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GGTGTACATCAT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcAccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAggtgtacatcatAGATCGAGACCCGACGC chr4:104127606-Alternative-A;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative C ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct GCGTTGACACCT CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAgcgttgacacctAGATCGAGACCCGACGC chr4:104127606-Alternative-C;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative C ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct CTACCGCATTGA CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAActaccgcattgaAGATCGAGACCCGACGC chr4:104127606-Alternative-C;Patient-82 chr4:104127606-GT DeNovo Patient-82 intergenic NA 0.000512821 -1 0 -0.47 CENPE 8039 Alternative C ccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacct AACCGTTCGGAG CGACGCGGTCTCTCTCTccgccaccatgcccagctaatttttgtatttttaatagaaacaggatttcCccatgttggccaggctggtcttgaacccttgacctcaggcaatccacctAGAGGGAGACGGACGTCTCAATAAaaccgttcggagAGATCGAGACCCGACGC chr4:104127606-Alternative-C;Patient-82 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Variant G tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CGTAGAACGCGT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcgtagaacgcgtAGATCGAGACCCGACGC chr4:104552430-Variant-G;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Variant G tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta AATGGCTTGGTT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAaatggcttggttAGATCGAGACCCGACGC chr4:104552430-Variant-G;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Reference C tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CAGCGTGCAGTT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcagcgtgcagttAGATCGAGACCCGACGC chr4:104552430-Reference-C;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative T tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CAAGGTAGGATT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcaaggtaggattAGATCGAGACCCGACGC chr4:104552430-Alternative-T;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Variant G tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta ACGCAGTGTCGT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAacgcagtgtcgtAGATCGAGACCCGACGC chr4:104552430-Variant-G;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative T tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta GCAAGGCAATTA CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAgcaaggcaattaAGATCGAGACCCGACGC chr4:104552430-Alternative-T;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative A tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta ATCGTTGTAAGG CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAatcgttgtaaggAGATCGAGACCCGACGC chr4:104552430-Alternative-A;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative A tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CTTGCCGGTGAT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAActtgccggtgatAGATCGAGACCCGACGC chr4:104552430-Alternative-A;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative T tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CAGCTAGCAGCT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcagctagcagctAGATCGAGACCCGACGC chr4:104552430-Alternative-T;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Variant G tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CGAATTGGCGAG CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcgaattggcgagAGATCGAGACCCGACGC chr4:104552430-Variant-G;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Reference C tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta GTCGAATGTGTT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAgtcgaatgtgttAGATCGAGACCCGACGC chr4:104552430-Reference-C;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative A tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta AGTTGTAGGCCG CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAagttgtaggccgAGATCGAGACCCGACGC chr4:104552430-Alternative-A;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative A tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta GGAACTAGACAC CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAggaactagacacAGATCGAGACCCGACGC chr4:104552430-Alternative-A;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Reference C tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CTCGGTAACGAC CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAActcggtaacgacAGATCGAGACCCGACGC chr4:104552430-Reference-C;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative A tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CGGTACACACAT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacAtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcggtacacacatAGATCGAGACCCGACGC chr4:104552430-Alternative-A;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative T tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta GGAATGTCGAAT CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAggaatgtcgaatAGATCGAGACCCGACGC chr4:104552430-Alternative-T;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Reference C tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta ATATGTTACGGC CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAatatgttacggcAGATCGAGACCCGACGC chr4:104552430-Reference-C;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Reference C tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta GCGTACTAAGCG CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacCtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAgcgtactaagcgAGATCGAGACCCGACGC chr4:104552430-Reference-C;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Variant G tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta CATGTCGGATGC CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacGtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAcatgtcggatgcAGATCGAGACCCGACGC chr4:104552430-Variant-G;Patient-19 chr4:104552430-CG DeNovo Patient-19 intronic TACR3 0.000319 9.9e-05 -0.15 0.99 0.05 TACR3 88542 Alternative T tgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagta ACTCGTTAGCAA CGACGCGGTCTCTCTCTtgtaaatgacgagttgatgagtgcagcaaaccaacatgatacatgtatacTtgtgtatcaacactgcacgttgcacacatgtaccctagaacttaaagtaAGAGGGAGACGGACGTCTCAATAAactcgttagcaaAGATCGAGACCCGACGC chr4:104552430-Alternative-T;Patient-19 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative C gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt ACGCTAGGCGAA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAacgctaggcgaaAGATCGAGACCCGACGC chr4:104645991-Alternative-C;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative C gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt CAGCACGACGTT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAcagcacgacgttAGATCGAGACCCGACGC chr4:104645991-Alternative-C;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative C gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GTTGAACGTTCA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgttgaacgttcaAGATCGAGACCCGACGC chr4:104645991-Alternative-C;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative C gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AAGATTCGGTTC CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAaagattcggttcAGATCGAGACCCGACGC chr4:104645991-Alternative-C;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Reference A gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GTCTAGCGTTCG CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgtctagcgttcgAGATCGAGACCCGACGC chr4:104645991-Reference-A;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative C gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GATATTGGTAGG CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatCcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgatattggtaggAGATCGAGACCCGACGC chr4:104645991-Alternative-C;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Reference A gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt CTATGGAGATCA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAActatggagatcaAGATCGAGACCCGACGC chr4:104645991-Reference-A;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Reference A gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AGACGAACGGAG CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAagacgaacggagAGATCGAGACCCGACGC chr4:104645991-Reference-A;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Reference A gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GCATTCTTGGTT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgcattcttggttAGATCGAGACCCGACGC chr4:104645991-Reference-A;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Reference A gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt ATCGACCGTGCA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatAcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAatcgaccgtgcaAGATCGAGACCCGACGC chr4:104645991-Reference-A;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Variant T gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AGCTTCGCTAGG CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAagcttcgctaggAGATCGAGACCCGACGC chr4:104645991-Variant-T;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Variant T gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GCGATCCAATGA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgcgatccaatgaAGATCGAGACCCGACGC chr4:104645991-Variant-T;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Variant T gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AACTTGGACGTT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAaacttggacgttAGATCGAGACCCGACGC chr4:104645991-Variant-T;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Variant T gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AGGTAGGCCTAA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAaggtaggcctaaAGATCGAGACCCGACGC chr4:104645991-Variant-T;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative G gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt CAGTCGATTCTT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAcagtcgattcttAGATCGAGACCCGACGC chr4:104645991-Alternative-G;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative G gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GAGGTAACAGGT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgaggtaacaggtAGATCGAGACCCGACGC chr4:104645991-Alternative-G;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative G gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt CGGTAGAGGTAA CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAcggtagaggtaaAGATCGAGACCCGACGC chr4:104645991-Alternative-G;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Variant T gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt AACGCTGATGGT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatTcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAaacgctgatggtAGATCGAGACCCGACGC chr4:104645991-Variant-T;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative G gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt ACGTTAGGTCGC CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAacgttaggtcgcAGATCGAGACCCGACGC chr4:104645991-Alternative-G;Patient-12 chr4:104645991-AT DeNovo Patient-12 intergenic 0.000255 0.000513 NA NA NA TACR3 5017 Alternative G gacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgctt GTATAACGCGTT CGACGCGGTCTCTCTCTgacttaacaaaagtgtatgccttagagaatgagaaggttgaggagatcatGcctgaagatgagattttctgactaaaacaatttggtggaatatctgcttAGAGGGAGACGGACGTCTCAATAAgtataacgcgttAGATCGAGACCCGACGC chr4:104645991-Alternative-G;Patient-12 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative T tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CGATGAATGCCA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAcgatgaatgccaAGATCGAGACCCGACGC chr4:105973369-Alternative-T;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Variant G tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta ACAGGATCCAGG CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAacaggatccaggAGATCGAGACCCGACGC chr4:105973369-Variant-G;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative T tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta ACTCCAACAACA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAactccaacaacaAGATCGAGACCCGACGC chr4:105973369-Alternative-T;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Variant G tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CGGTCGCATATC CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAcggtcgcatatcAGATCGAGACCCGACGC chr4:105973369-Variant-G;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative T tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta AGCTACTCTAAG CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAagctactctaagAGATCGAGACCCGACGC chr4:105973369-Alternative-T;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Reference A tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta AACTACCGACGC CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAaactaccgacgcAGATCGAGACCCGACGC chr4:105973369-Reference-A;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Reference A tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CATCTTGGTGAA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAcatcttggtgaaAGATCGAGACCCGACGC chr4:105973369-Reference-A;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Variant G tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GCGTGTTCTTAT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAgcgtgttcttatAGATCGAGACCCGACGC chr4:105973369-Variant-G;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative C tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GGTTGTGCGCTT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAggttgtgcgcttAGATCGAGACCCGACGC chr4:105973369-Alternative-C;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative C tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GCGCGATAGACT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAgcgcgatagactAGATCGAGACCCGACGC chr4:105973369-Alternative-C;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative T tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CTTGCGAGGTAA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAActtgcgaggtaaAGATCGAGACCCGACGC chr4:105973369-Alternative-T;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Variant G tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GATGACTATCGT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAgatgactatcgtAGATCGAGACCCGACGC chr4:105973369-Variant-G;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Reference A tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta ACGATAGTCTAC CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAacgatagtctacAGATCGAGACCCGACGC chr4:105973369-Reference-A;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Reference A tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta ATCGGAGGACAT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAatcggaggacatAGATCGAGACCCGACGC chr4:105973369-Reference-A;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Reference A tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CGTTGGTATTGA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaAtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAcgttggtattgaAGATCGAGACCCGACGC chr4:105973369-Reference-A;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Variant G tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GGCTCTCACGAA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaGtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAggctctcacgaaAGATCGAGACCCGACGC chr4:105973369-Variant-G;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative T tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GGATAGTGTACA CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaTtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAggatagtgtacaAGATCGAGACCCGACGC chr4:105973369-Alternative-T;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative C tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta GGATATACCGTT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAggatataccgttAGATCGAGACCCGACGC chr4:105973369-Alternative-C;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative C tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta AGACCGCGCAAT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAagaccgcgcaatAGATCGAGACCCGACGC chr4:105973369-Alternative-C;Patient-37 chr4:105973369-AG Inherited Patient-37 intergenic 6.4e-05 0.000513 -0.08 1.58 0.12 TET2 93662 Alternative C tgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagcta CGTTACGGCGAT CGACGCGGTCTCTCTCTtgcaatcctagtttccaacaaaacagattttaaacctttttaaaaagtcaCtgaagagcattacgtaatgataaagggttcaattcaataaaaagagctaAGAGGGAGACGGACGTCTCAATAAcgttacggcgatAGATCGAGACCCGACGC chr4:105973369-Alternative-C;Patient-37 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Reference T taattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatg CGACGTATGCAC CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAcgacgtatgcacAGATCGAGACCCGACGC chr4:107200245-Reference-T;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Reference T taattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatg GTTGACCGTAAT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAgttgaccgtaatAGATCGAGACCCGACGC chr4:107200245-Reference-T;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative G taattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatg ATATACGGACGA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAatatacggacgaAGATCGAGACCCGACGC chr4:107200245-Alternative-G;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative G taattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatg GAGCTAGATCAA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAgagctagatcaaAGATCGAGACCCGACGC chr4:107200245-Alternative-G;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative G taattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatg AACGATACAGGT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAaacgatacaggtAGATCGAGACCCGACGC chr4:107200245-Alternative-G;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative G taattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatg ACTGTCGTAAGT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAactgtcgtaagtAGATCGAGACCCGACGC chr4:107200245-Alternative-G;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative G taattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatg ACGCCATCGATA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttGctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAacgccatcgataAGATCGAGACCCGACGC chr4:107200245-Alternative-G;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Variant C taattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatg GACCGCTGAGAA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAgaccgctgagaaAGATCGAGACCCGACGC chr4:107200245-Variant-C;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Variant C taattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatg CTAGCCACCAAT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAActagccaccaatAGATCGAGACCCGACGC chr4:107200245-Variant-C;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Variant C taattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatg GGCACCACGAAT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAggcaccacgaatAGATCGAGACCCGACGC chr4:107200245-Variant-C;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Variant C taattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatg GAGTAACATCGC CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAgagtaacatcgcAGATCGAGACCCGACGC chr4:107200245-Variant-C;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Variant C taattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatg CATCGACGGTGT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttCctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAcatcgacggtgtAGATCGAGACCCGACGC chr4:107200245-Variant-C;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative A taattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatg AATCATACTGCG CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAaatcatactgcgAGATCGAGACCCGACGC chr4:107200245-Alternative-A;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative A taattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatg AGACTGGATATC CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAagactggatatcAGATCGAGACCCGACGC chr4:107200245-Alternative-A;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative A taattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatg CGTTCAGCCGAT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAcgttcagccgatAGATCGAGACCCGACGC chr4:107200245-Alternative-A;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative A taattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatg CGTCACAGCAAG CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAcgtcacagcaagAGATCGAGACCCGACGC chr4:107200245-Alternative-A;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Alternative A taattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatg GGCTCAATCATA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttActataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAggctcaatcataAGATCGAGACCCGACGC chr4:107200245-Alternative-A;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Reference T taattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatg CTCGTGTACTTA CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAActcgtgtacttaAGATCGAGACCCGACGC chr4:107200245-Reference-T;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Reference T taattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatg GCGCGCTAACTT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAgcgcgctaacttAGATCGAGACCCGACGC chr4:107200245-Reference-T;Patient-30 chr4:107200245-TC Inherited Patient-30 intronic TBCK 0.000382 4.95e-05 NA NA NA TBCK 37615 Reference T taattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatg GGTACGGTAGGT CGACGCGGTCTCTCTCTtaattcccaacaggaaattagactagttaatttaatggatatagacctttTctataccttttatggatatagacaataccacaaaataaaattcaaaatgAGAGGGAGACGGACGTCTCAATAAggtacggtaggtAGATCGAGACCCGACGC chr4:107200245-Reference-T;Patient-30 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative G ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc AGGTATGGCGAA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAaggtatggcgaaAGATCGAGACCCGACGC chr4:107242747-Alternative-G;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Variant T ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc CTTATAGGCGCG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAActtataggcgcgAGATCGAGACCCGACGC chr4:107242747-Variant-T;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative A ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ACACGAATTCGT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAacacgaattcgtAGATCGAGACCCGACGC chr4:107242747-Alternative-A;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative G ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ATTGTTGCTGAG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAattgttgctgagAGATCGAGACCCGACGC chr4:107242747-Alternative-G;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative G ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc GTCATCACGACG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAgtcatcacgacgAGATCGAGACCCGACGC chr4:107242747-Alternative-G;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Variant T ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ATCCGAAGGCAA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAatccgaaggcaaAGATCGAGACCCGACGC chr4:107242747-Variant-T;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Reference C ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc CTTGTAGGTAGT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAActtgtaggtagtAGATCGAGACCCGACGC chr4:107242747-Reference-C;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative A ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc GGATAGTACCGG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAggatagtaccggAGATCGAGACCCGACGC chr4:107242747-Alternative-A;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Reference C ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc GCGAACATTGCG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAgcgaacattgcgAGATCGAGACCCGACGC chr4:107242747-Reference-C;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Variant T ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ACAGACGGCCAA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAacagacggccaaAGATCGAGACCCGACGC chr4:107242747-Variant-T;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Reference C ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc GAGTACAATGCT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAgagtacaatgctAGATCGAGACCCGACGC chr4:107242747-Reference-C;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative A ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc AATAACACAGCG CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAaataacacagcgAGATCGAGACCCGACGC chr4:107242747-Alternative-A;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Reference C ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc CGCTTGATATAC CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAcgcttgatatacAGATCGAGACCCGACGC chr4:107242747-Reference-C;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Variant T ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ACGATCCGTGCA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAacgatccgtgcaAGATCGAGACCCGACGC chr4:107242747-Variant-T;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Reference C ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc AGCAGCAGTGCA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccCcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAagcagcagtgcaAGATCGAGACCCGACGC chr4:107242747-Reference-C;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative A ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc AGCCGAATCAAT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAagccgaatcaatAGATCGAGACCCGACGC chr4:107242747-Alternative-A;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Variant T ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc CACAATAGCAGA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccTcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAcacaatagcagaAGATCGAGACCCGACGC chr4:107242747-Variant-T;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative A ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc GGTGAGCGAATT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccAcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAggtgagcgaattAGATCGAGACCCGACGC chr4:107242747-Alternative-A;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative G ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc AGTCAAGTCCGA CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAagtcaagtccgaAGATCGAGACCCGACGC chr4:107242747-Alternative-G;Patient-54 chr4:107242747-CT Inherited Patient-54 intronic AIMP1 0.000229 4.95e-05 -0.11 1.3 0 TBCK 4885 Alternative G ttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggcc ACCGATCCTCGT CGACGCGGTCTCTCTCTttccgctttccgcccggcagcggccccgtccgggaggtggggggcagcccGcgcccggccggcgccccgtctgggaggtggagggcgcctctgcccggccAGAGGGAGACGGACGTCTCAATAAaccgatcctcgtAGATCGAGACCCGACGC chr4:107242747-Alternative-G;Patient-54 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative A tccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GACCATGAATCG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgaccatgaatcgAGATCGAGACCCGACGC chr4:111621588-Alternative-A;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative C tccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GACCAATTCGGC CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgaccaattcggcAGATCGAGACCCGACGC chr4:111621588-Alternative-C;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative C tccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagt ATTGCGCCGCAT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAattgcgccgcatAGATCGAGACCCGACGC chr4:111621588-Alternative-C;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative A tccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagt AGCGTCCATGAA CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAagcgtccatgaaAGATCGAGACCCGACGC chr4:111621588-Alternative-A;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Reference T tccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagt CGAATTAGACGG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAcgaattagacggAGATCGAGACCCGACGC chr4:111621588-Reference-T;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Reference T tccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GCGTAATAGGCG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgcgtaataggcgAGATCGAGACCCGACGC chr4:111621588-Reference-T;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative A tccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagt CTTAATTCGGAG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAActtaattcggagAGATCGAGACCCGACGC chr4:111621588-Alternative-A;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative A tccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagt CTGCGTCGTGTT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAActgcgtcgtgttAGATCGAGACCCGACGC chr4:111621588-Alternative-A;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative C tccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GCGAGTTCATGC CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgcgagttcatgcAGATCGAGACCCGACGC chr4:111621588-Alternative-C;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative C tccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagt CAGGAGTTCGAG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAcaggagttcgagAGATCGAGACCCGACGC chr4:111621588-Alternative-C;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative A tccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagt AGCATCGGTTAT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttAttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAagcatcggttatAGATCGAGACCCGACGC chr4:111621588-Alternative-A;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Reference T tccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagt ACGCAAGAGTTA CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAacgcaagagttaAGATCGAGACCCGACGC chr4:111621588-Reference-T;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Variant G tccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GATGTGAGTGCG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgatgtgagtgcgAGATCGAGACCCGACGC chr4:111621588-Variant-G;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Variant G tccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagt AATCTCACTTCG CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAaatctcacttcgAGATCGAGACCCGACGC chr4:111621588-Variant-G;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Alternative C tccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagt CGAATCAGCGTT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttCttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAcgaatcagcgttAGATCGAGACCCGACGC chr4:111621588-Alternative-C;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Variant G tccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GAGATGATGACT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgagatgatgactAGATCGAGACCCGACGC chr4:111621588-Variant-G;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Reference T tccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GTGTTCCGCGTT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgtgttccgcgttAGATCGAGACCCGACGC chr4:111621588-Reference-T;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Variant G tccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagt ACCTATCAACCA CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAacctatcaaccaAGATCGAGACCCGACGC chr4:111621588-Variant-G;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Reference T tccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GATAGATCGTGC CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttTttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgatagatcgtgcAGATCGAGACCCGACGC chr4:111621588-Reference-T;Patient-92 chr4:111621588-TG DeNovo Patient-92 intergenic NA 0.000513 -0.32 0.33 -2.03 PITX2 58308 Variant G tccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagt GCGGTTGTGCTT CGACGCGGTCTCTCTCTtccattccttctgctaacatctaacaattacttttttgtctggtaattttGttgttgactgtgaagcttttttttttttttttttttagaccagtagagtAGAGGGAGACGGACGTCTCAATAAgcggttgtgcttAGATCGAGACCCGACGC chr4:111621588-Variant-G;Patient-92 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Variant T ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GACTAAGAATCG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAgactaagaatcgAGATCGAGACCCGACGC chr4:11361672-Variant-T;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Variant T ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GCCGTCGTCTAT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAgccgtcgtctatAGATCGAGACCCGACGC chr4:11361672-Variant-T;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Variant T ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat AAGTACCAACAG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAaagtaccaacagAGATCGAGACCCGACGC chr4:11361672-Variant-T;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Variant T ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GGAGGACGTGTT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAggaggacgtgttAGATCGAGACCCGACGC chr4:11361672-Variant-T;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative G ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GGTCGAGAGTAA CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAggtcgagagtaaAGATCGAGACCCGACGC chr4:11361672-Alternative-G;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative G ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ATAGACGCTACC CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAatagacgctaccAGATCGAGACCCGACGC chr4:11361672-Alternative-G;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative G ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ATAACGCGTCGG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAataacgcgtcggAGATCGAGACCCGACGC chr4:11361672-Alternative-G;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative G ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat CTGAAGATACAG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAActgaagatacagAGATCGAGACCCGACGC chr4:11361672-Alternative-G;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative G ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat CGATAGGATGAT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaGctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAcgataggatgatAGATCGAGACCCGACGC chr4:11361672-Alternative-G;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Variant T ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ACTTAGGCTCTT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaTctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAacttaggctcttAGATCGAGACCCGACGC chr4:11361672-Variant-T;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative A ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GTCGTCTATACT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAgtcgtctatactAGATCGAGACCCGACGC chr4:11361672-Alternative-A;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative A ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat GCAGTCGTGACT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAgcagtcgtgactAGATCGAGACCCGACGC chr4:11361672-Alternative-A;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative A ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat CGAGCTAAGCGT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAcgagctaagcgtAGATCGAGACCCGACGC chr4:11361672-Alternative-A;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative A ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ACTCAAGTTGAG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAactcaagttgagAGATCGAGACCCGACGC chr4:11361672-Alternative-A;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Reference C ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ATAGATTGGTGG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAatagattggtggAGATCGAGACCCGACGC chr4:11361672-Reference-C;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Alternative A ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ATCGAACGACCG CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaActagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAatcgaacgaccgAGATCGAGACCCGACGC chr4:11361672-Alternative-A;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Reference C ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ACGGTATAGTCT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAacggtatagtctAGATCGAGACCCGACGC chr4:11361672-Reference-C;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Reference C ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat CACTATCCGAAT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAcactatccgaatAGATCGAGACCCGACGC chr4:11361672-Reference-C;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Reference C ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ACATCGGTGACT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAacatcggtgactAGATCGAGACCCGACGC chr4:11361672-Reference-C;Patient-22 chr4:11361672-CT Inherited Patient-22 intergenic 0.000128 0.001538462 -0.21 0.68 -0.35 HS3ST1 68864 Reference C ggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcat ACTCTTCGACAT CGACGCGGTCTCTCTCTggggggatttgaagtgacaatttgaaaaaactcacagaccaatcgcatcaCctagaaatactgaaaacaattaagaaagggtaactatgtcatgaatcatAGAGGGAGACGGACGTCTCAATAAactcttcgacatAGATCGAGACCCGACGC chr4:11361672-Reference-C;Patient-22 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative C aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc CATATACCGGCG CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAcatataccggcgAGATCGAGACCCGACGC chr4:113694346-Alternative-C;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Variant A aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ACTTGAGTGAAC CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAacttgagtgaacAGATCGAGACCCGACGC chr4:113694346-Variant-A;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Variant A aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc CGACGAGCAACA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAcgacgagcaacaAGATCGAGACCCGACGC chr4:113694346-Variant-A;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative C aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc AGCGGAGAAGCT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAagcggagaagctAGATCGAGACCCGACGC chr4:113694346-Alternative-C;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Variant A aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ACTTCGGTTCAA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAacttcggttcaaAGATCGAGACCCGACGC chr4:113694346-Variant-A;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative C aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc GTTCGCTATCTA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAgttcgctatctaAGATCGAGACCCGACGC chr4:113694346-Alternative-C;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative C aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc CGGAGTTCTATA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAcggagttctataAGATCGAGACCCGACGC chr4:113694346-Alternative-C;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative C aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc AGGAACGTTCGG CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatCcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAaggaacgttcggAGATCGAGACCCGACGC chr4:113694346-Alternative-C;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative T aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc GGAAGTGTTAAG CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAggaagtgttaagAGATCGAGACCCGACGC chr4:113694346-Alternative-T;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative T aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc GGCGAACAGATT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAggcgaacagattAGATCGAGACCCGACGC chr4:113694346-Alternative-T;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Variant A aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ACCGGCTTCGTT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAaccggcttcgttAGATCGAGACCCGACGC chr4:113694346-Variant-A;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative T aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc CAGTCGATGTGC CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAcagtcgatgtgcAGATCGAGACCCGACGC chr4:113694346-Alternative-T;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Reference G aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc CATCAACGTCCT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAcatcaacgtcctAGATCGAGACCCGACGC chr4:113694346-Reference-G;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Variant A aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ATTATTAGCGCG CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatAcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAattattagcgcgAGATCGAGACCCGACGC chr4:113694346-Variant-A;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Reference G aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ACGCTCCGTTGT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAacgctccgttgtAGATCGAGACCCGACGC chr4:113694346-Reference-G;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Reference G aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ACAACACTTCGA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAacaacacttcgaAGATCGAGACCCGACGC chr4:113694346-Reference-G;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative T aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc AGGAATGGCACA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAaggaatggcacaAGATCGAGACCCGACGC chr4:113694346-Alternative-T;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Reference G aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc GTCCGTTGCGAT CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAgtccgttgcgatAGATCGAGACCCGACGC chr4:113694346-Reference-G;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Reference G aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc AAGTCCGTGTTA CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatGcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAaagtccgtgttaAGATCGAGACCCGACGC chr4:113694346-Reference-G;Patient-60 chr4:113694346-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA ANK2 44892 Alternative T aaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagc ATCCGCGTATGC CGACGCGGTCTCTCTCTaaaccccatctctaaaaaaatgcaaaaattagccaggtgtggtggtggatTcctatagtcccagctactgaggtggctgaggtgggaggatcacctgagcAGAGGGAGACGGACGTCTCAATAAatccgcgtatgcAGATCGAGACCCGACGC chr4:113694346-Alternative-T;Patient-60 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative G catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt CGTAGCGTAGCA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAcgtagcgtagcaAGATCGAGACCCGACGC chr4:113725655-Alternative-G;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative G catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GTAAGCGATGAA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgtaagcgatgaaAGATCGAGACCCGACGC chr4:113725655-Alternative-G;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative G catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GCGACTAGATGC CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgcgactagatgcAGATCGAGACCCGACGC chr4:113725655-Alternative-G;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative A catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt CAACATAGCGGC CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAcaacatagcggcAGATCGAGACCCGACGC chr4:113725655-Alternative-A;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative A catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt ATTGGTCGGTAT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAattggtcggtatAGATCGAGACCCGACGC chr4:113725655-Alternative-A;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Variant C catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt AGCTTGCATACT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAagcttgcatactAGATCGAGACCCGACGC chr4:113725655-Variant-C;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative A catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt ACGACGCATACT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAacgacgcatactAGATCGAGACCCGACGC chr4:113725655-Alternative-A;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Variant C catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GGTAAGGCGTCT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAggtaaggcgtctAGATCGAGACCCGACGC chr4:113725655-Variant-C;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative G catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt ATTCCGCTTCGG CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAattccgcttcggAGATCGAGACCCGACGC chr4:113725655-Alternative-G;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Variant C catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt ACCGGTTGACAG CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAaccggttgacagAGATCGAGACCCGACGC chr4:113725655-Variant-C;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative A catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GGTTCGCTACCT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAggttcgctacctAGATCGAGACCCGACGC chr4:113725655-Alternative-A;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Reference T catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GTGTTATCACGA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgtgttatcacgaAGATCGAGACCCGACGC chr4:113725655-Reference-T;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative G catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GCGAGCTGTATC CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaGgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgcgagctgtatcAGATCGAGACCCGACGC chr4:113725655-Alternative-G;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Reference T catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt ATCGACGATGAA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAatcgacgatgaaAGATCGAGACCCGACGC chr4:113725655-Reference-T;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Reference T catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GATATCGTACCA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgatatcgtaccaAGATCGAGACCCGACGC chr4:113725655-Reference-T;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Alternative A catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GTTATACGGCTA CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaAgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgttatacggctaAGATCGAGACCCGACGC chr4:113725655-Alternative-A;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Variant C catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GATTGCTGACAT CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgattgctgacatAGATCGAGACCCGACGC chr4:113725655-Variant-C;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Variant C catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GTATCTATCGAG CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaCgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgtatctatcgagAGATCGAGACCCGACGC chr4:113725655-Variant-C;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Reference T catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GTCTCGGATAAC CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAgtctcggataacAGATCGAGACCCGACGC chr4:113725655-Reference-T;Patient-79 chr4:113725655-TC DeNovo Patient-79 intergenic NA 0.000512821 0.07 3.83 1.1 ANK2 13583 Reference T catttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcatt GGTGATTCCACG CGACGCGGTCTCTCTCTcatttcaagaagctacctccttggacaaaaattgaggaaattgagagtgaTgagcatttgcatatagataacatgagaacaaaacacaatgtaactcattAGAGGGAGACGGACGTCTCAATAAggtgattccacgAGATCGAGACCCGACGC chr4:113725655-Reference-T;Patient-79 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative G tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatcc CGTAGCTACTAA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAcgtagctactaaAGATCGAGACCCGACGC chr4:114851220-Alternative-G;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative G tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatcc ACGGCTTGACGT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAacggcttgacgtAGATCGAGACCCGACGC chr4:114851220-Alternative-G;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative G tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatcc AGTCGTCGCTTC CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAagtcgtcgcttcAGATCGAGACCCGACGC chr4:114851220-Alternative-G;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative G tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GCGATGGCTGTT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgcgatggctgttAGATCGAGACCCGACGC chr4:114851220-Alternative-G;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Variant T tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatcc AGCGGCTGAGAT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAagcggctgagatAGATCGAGACCCGACGC chr4:114851220-Variant-T;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative G tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatcc CATTGGTCTGAA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaGaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAcattggtctgaaAGATCGAGACCCGACGC chr4:114851220-Alternative-G;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Variant T tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatcc AATGAGTGAGCT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAaatgagtgagctAGATCGAGACCCGACGC chr4:114851220-Variant-T;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Variant T tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatcc CTATGCGCCTGA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAActatgcgcctgaAGATCGAGACCCGACGC chr4:114851220-Variant-T;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Variant T tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GTTCGCTGACAG CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgttcgctgacagAGATCGAGACCCGACGC chr4:114851220-Variant-T;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Reference A tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatcc CGGAACGCTCAT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAcggaacgctcatAGATCGAGACCCGACGC chr4:114851220-Reference-A;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Variant T tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatcc ACGACGACCGTT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaTaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAacgacgaccgttAGATCGAGACCCGACGC chr4:114851220-Variant-T;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Reference A tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GCAACATATTCG CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgcaacatattcgAGATCGAGACCCGACGC chr4:114851220-Reference-A;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative C tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GATTCCGGCGAA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgattccggcgaaAGATCGAGACCCGACGC chr4:114851220-Alternative-C;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Reference A tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatcc AAGCAGTGAATC CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAaagcagtgaatcAGATCGAGACCCGACGC chr4:114851220-Reference-A;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Reference A tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GTAGGTGACATA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgtaggtgacataAGATCGAGACCCGACGC chr4:114851220-Reference-A;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Reference A tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatcc ACTCCGTACGGT CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaAaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAactccgtacggtAGATCGAGACCCGACGC chr4:114851220-Reference-A;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative C tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GTCAGGTCATTA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgtcaggtcattaAGATCGAGACCCGACGC chr4:114851220-Alternative-C;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative C tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatcc CTTAGCCGGCAA CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAActtagccggcaaAGATCGAGACCCGACGC chr4:114851220-Alternative-C;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative C tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatcc AACAGCTGTGCG CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAaacagctgtgcgAGATCGAGACCCGACGC chr4:114851220-Alternative-C;Patient-55 chr4:114851220-AT DeNovo Patient-55 intronic ARSJ 3.2e-05 4.95e-05 0.15 5.06 0.15 ARSJ 49657 Alternative C tagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatcc GAATTACACGTC CGACGCGGTCTCTCTCTtagcatttttgggtctaatcatattaagcagccaactccagaaaccccaaCaccagtgaaagaactccatccttaatattctattcctctagaaccatccAGAGGGAGACGGACGTCTCAATAAgaattacacgtcAGATCGAGACCCGACGC chr4:114851220-Alternative-C;Patient-55 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative G gaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct AGTCGTGGTTAT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAagtcgtggttatAGATCGAGACCCGACGC chr4:114872020-Alternative-G;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative G gaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct CGTATGGAGATA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAcgtatggagataAGATCGAGACCCGACGC chr4:114872020-Alternative-G;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Variant C gaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct CTTAGGTCGCCT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAActtaggtcgcctAGATCGAGACCCGACGC chr4:114872020-Variant-C;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative G gaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct ACGTGTGAATGA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAacgtgtgaatgaAGATCGAGACCCGACGC chr4:114872020-Alternative-G;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Reference T gaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct ACAAGCGCTAAT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAacaagcgctaatAGATCGAGACCCGACGC chr4:114872020-Reference-T;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Variant C gaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GATCGCTACGGT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAgatcgctacggtAGATCGAGACCCGACGC chr4:114872020-Variant-C;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative A gaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct AGCATTGTAACC CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAagcattgtaaccAGATCGAGACCCGACGC chr4:114872020-Alternative-A;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative G gaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GGACAGATGGAG CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAggacagatggagAGATCGAGACCCGACGC chr4:114872020-Alternative-G;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Reference T gaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GTAGTCTGTCAA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAgtagtctgtcaaAGATCGAGACCCGACGC chr4:114872020-Reference-T;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Variant C gaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GCAACGACGTAA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAgcaacgacgtaaAGATCGAGACCCGACGC chr4:114872020-Variant-C;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Reference T gaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct AACTCGGAGAAG CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAaactcggagaagAGATCGAGACCCGACGC chr4:114872020-Reference-T;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Reference T gaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct ATCATAAGTCGC CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAatcataagtcgcAGATCGAGACCCGACGC chr4:114872020-Reference-T;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative G gaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct AATAGCGCACTT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctGaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAaatagcgcacttAGATCGAGACCCGACGC chr4:114872020-Alternative-G;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Variant C gaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct CACGATCTACTA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAcacgatctactaAGATCGAGACCCGACGC chr4:114872020-Variant-C;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Reference T gaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct CTCACGAACTAA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctTaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAActcacgaactaaAGATCGAGACCCGACGC chr4:114872020-Reference-T;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative A gaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GCATCTATTAGG CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAgcatctattaggAGATCGAGACCCGACGC chr4:114872020-Alternative-A;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative A gaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GAGATGAGTCGC CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAgagatgagtcgcAGATCGAGACCCGACGC chr4:114872020-Alternative-A;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative A gaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct AATGAAGCTCGA CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAaatgaagctcgaAGATCGAGACCCGACGC chr4:114872020-Alternative-A;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Alternative A gaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct ACGGCTTATCTT CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctAaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAacggcttatcttAGATCGAGACCCGACGC chr4:114872020-Alternative-A;Patient-21 chr4:114872020-TC DeNovo Patient-21 intronic ARSJ NA 4.95e-05 0.21 5.92 -1.66 ARSJ 28857 Variant C gaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcct GGTTATAGTCAC CGACGCGGTCTCTCTCTgaatgggaattattttctctggagtttgttatgaggcagcaccctattctCaaagaaatttgcatacagttgaagcactggtatactgacgtggtgtcctAGAGGGAGACGGACGTCTCAATAAggttatagtcacAGATCGAGACCCGACGC chr4:114872020-Variant-C;Patient-21 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative C gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag AGACTGTCATTC CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAagactgtcattcAGATCGAGACCCGACGC chr4:114917848-Alternative-C;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Variant G gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GGTTGTGGTTCG CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAggttgtggttcgAGATCGAGACCCGACGC chr4:114917848-Variant-G;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Variant G gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GGACCTCATATA CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAggacctcatataAGATCGAGACCCGACGC chr4:114917848-Variant-G;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative C gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag ATTAATCGACGC CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAattaatcgacgcAGATCGAGACCCGACGC chr4:114917848-Alternative-C;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Reference T gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag CGACTTATAGGT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAcgacttataggtAGATCGAGACCCGACGC chr4:114917848-Reference-T;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Reference T gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag CACGTTCAGCGA CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAcacgttcagcgaAGATCGAGACCCGACGC chr4:114917848-Reference-T;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Variant G gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag AACTACGCGCAT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAaactacgcgcatAGATCGAGACCCGACGC chr4:114917848-Variant-G;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative C gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag AGTAAGTCGCTT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAagtaagtcgcttAGATCGAGACCCGACGC chr4:114917848-Alternative-C;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Variant G gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GCCGGTTGTGTT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgccggttgtgttAGATCGAGACCCGACGC chr4:114917848-Variant-G;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Reference T gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag AATCGTCGGATT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAaatcgtcggattAGATCGAGACCCGACGC chr4:114917848-Reference-T;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Reference T gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GCAACTGTCCGA CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgcaactgtccgaAGATCGAGACCCGACGC chr4:114917848-Reference-T;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative A gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GTCGGACGGTAA CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgtcggacggtaaAGATCGAGACCCGACGC chr4:114917848-Alternative-A;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Variant G gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GACGGTAATGAG CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaGggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgacggtaatgagAGATCGAGACCCGACGC chr4:114917848-Variant-G;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Reference T gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GACCGTTGCATC CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaTggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgaccgttgcatcAGATCGAGACCCGACGC chr4:114917848-Reference-T;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative A gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GATGGTGTGCAG CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAgatggtgtgcagAGATCGAGACCCGACGC chr4:114917848-Alternative-A;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative C gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag GGCGACTGGATA CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAggcgactggataAGATCGAGACCCGACGC chr4:114917848-Alternative-C;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative A gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag CTTGGTCCTGAC CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAActtggtcctgacAGATCGAGACCCGACGC chr4:114917848-Alternative-A;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative C gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag CATAGTGCATGT CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaCggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAcatagtgcatgtAGATCGAGACCCGACGC chr4:114917848-Alternative-C;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative A gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag CTGCTTGGACAG CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAActgcttggacagAGATCGAGACCCGACGC chr4:114917848-Alternative-A;Patient-55 chr4:114917848-TG Inherited Patient-55 intergenic NA 0.000513 -0.1 1.43 -0.61 ARSJ 16969 Alternative A gggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccag ATAAGCGGTCGC CGACGCGGTCTCTCTCTgggtagaaaccagggctagcctatgggaggatgagagacaacatgagacaAggatgagttgtcccttgtctcagagatgaggctcattaggcctagccagAGAGGGAGACGGACGTCTCAATAAataagcggtcgcAGATCGAGACCCGACGC chr4:114917848-Alternative-A;Patient-55 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Reference G accagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GGACAGCGTACA CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAggacagcgtacaAGATCGAGACCCGACGC chr4:115589708-Reference-G;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Reference G accagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACCGACTACTTC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAaccgactacttcAGATCGAGACCCGACGC chr4:115589708-Reference-G;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative T accagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACTTACGACGAT CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAacttacgacgatAGATCGAGACCCGACGC chr4:115589708-Alternative-T;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative C accagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc AGATATGCGACC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAagatatgcgaccAGATCGAGACCCGACGC chr4:115589708-Alternative-C;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative T accagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GTTGTGGACGTC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAgttgtggacgtcAGATCGAGACCCGACGC chr4:115589708-Alternative-T;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Reference G accagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GGCTTGGAACGA CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAggcttggaacgaAGATCGAGACCCGACGC chr4:115589708-Reference-G;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Variant A accagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GGTATTAGCGCG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAggtattagcgcgAGATCGAGACCCGACGC chr4:115589708-Variant-A;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Reference G accagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACGGTAGAACGC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAacggtagaacgcAGATCGAGACCCGACGC chr4:115589708-Reference-G;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative T accagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc CATAGGCGACAC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAcataggcgacacAGATCGAGACCCGACGC chr4:115589708-Alternative-T;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Variant A accagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GGTTAGCGACAG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAggttagcgacagAGATCGAGACCCGACGC chr4:115589708-Variant-A;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative C accagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GGCGAACTTCTA CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAggcgaacttctaAGATCGAGACCCGACGC chr4:115589708-Alternative-C;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative T accagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACTTGATGTACG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAacttgatgtacgAGATCGAGACCCGACGC chr4:115589708-Alternative-T;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Variant A accagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ATCGCGGTACAG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAatcgcggtacagAGATCGAGACCCGACGC chr4:115589708-Variant-A;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative C accagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc CGGACGATGACT CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAcggacgatgactAGATCGAGACCCGACGC chr4:115589708-Alternative-C;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Reference G accagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GTACTCATGGAT CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggGaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAgtactcatggatAGATCGAGACCCGACGC chr4:115589708-Reference-G;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Variant A accagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACTCGCTACAAG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAactcgctacaagAGATCGAGACCCGACGC chr4:115589708-Variant-A;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative T accagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ACGTCTGCTAGA CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggTaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAacgtctgctagaAGATCGAGACCCGACGC chr4:115589708-Alternative-T;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Variant A accagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc ATCTCGTCATAC CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggAaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAatctcgtcatacAGATCGAGACCCGACGC chr4:115589708-Variant-A;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative C accagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc AGGAACGCGTGA CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAaggaacgcgtgaAGATCGAGACCCGACGC chr4:115589708-Alternative-C;Patient-98 chr4:115589708-GA DeNovo Patient-98 intronic UGT8 NA 4.95e-05 -0.09 1.52 1.34 UGT8 70096 Alternative C accagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttc GCGGATCAATCG CGACGCGGTCTCTCTCTaccagataatattctgcaaggatcttccaaacagggagaaactgcaatggCaacaatctttggatatctacattgtgtcaaatgttatgtgctttatttcAGAGGGAGACGGACGTCTCAATAAgcggatcaatcgAGATCGAGACCCGACGC chr4:115589708-Alternative-C;Patient-98 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative G atacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GTAATTCGCGGC CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgtaattcgcggcAGATCGAGACCCGACGC chr4:120245595-Alternative-G;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative G atacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt CGACCGGTCATA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAcgaccggtcataAGATCGAGACCCGACGC chr4:120245595-Alternative-G;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative G atacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt CTGGTTCCGACT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAActggttccgactAGATCGAGACCCGACGC chr4:120245595-Alternative-G;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Variant T atacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GAAGATGCGAAT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgaagatgcgaatAGATCGAGACCCGACGC chr4:120245595-Variant-T;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative G atacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt ATTCTATGCCAC CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAattctatgccacAGATCGAGACCCGACGC chr4:120245595-Alternative-G;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative G atacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GTAGTACAGACA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccGggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgtagtacagacaAGATCGAGACCCGACGC chr4:120245595-Alternative-G;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Variant T atacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AATACGCGCATA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAaatacgcgcataAGATCGAGACCCGACGC chr4:120245595-Variant-T;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Reference C atacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GTTGAGTGTTGT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgttgagtgttgtAGATCGAGACCCGACGC chr4:120245595-Reference-C;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Variant T atacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GAGTATCTCCGG CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgagtatctccggAGATCGAGACCCGACGC chr4:120245595-Variant-T;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Reference C atacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GTACGACTGACA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgtacgactgacaAGATCGAGACCCGACGC chr4:120245595-Reference-C;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Reference C atacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt CGAGCATAGTAA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAcgagcatagtaaAGATCGAGACCCGACGC chr4:120245595-Reference-C;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative A atacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt CGGTATTCGTAA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAcggtattcgtaaAGATCGAGACCCGACGC chr4:120245595-Alternative-A;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Reference C atacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AATGACTGTACG CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAaatgactgtacgAGATCGAGACCCGACGC chr4:120245595-Reference-C;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Reference C atacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AATGCTACACGA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccCggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAaatgctacacgaAGATCGAGACCCGACGC chr4:120245595-Reference-C;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative A atacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AGTTAACGCGAT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAagttaacgcgatAGATCGAGACCCGACGC chr4:120245595-Alternative-A;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Variant T atacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt GTAGCGCGACTT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAgtagcgcgacttAGATCGAGACCCGACGC chr4:120245595-Variant-T;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative A atacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt ACCTGACGAGCT CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAacctgacgagctAGATCGAGACCCGACGC chr4:120245595-Alternative-A;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative A atacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt CTGGTAACTCTA CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAActggtaactctaAGATCGAGACCCGACGC chr4:120245595-Alternative-A;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Variant T atacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AATAGCTCTGAC CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccTggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAaatagctctgacAGATCGAGACCCGACGC chr4:120245595-Variant-T;Patient-49 chr4:120245595-CT DeNovo Patient-49 intergenic NA 0.000513 -0.55 0.06 -0.09 FABP2 2278 Alternative A atacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaatt AAGGCTCCGAAC CGACGCGGTCTCTCTCTatacctcctaatgctatccctaccccctccccccaccccataacaggcccAggtgtgtgatgttccccttcctgtgtctaagtgttctcattgttcaattAGAGGGAGACGGACGTCTCAATAAaaggctccgaacAGATCGAGACCCGACGC chr4:120245595-Alternative-A;Patient-49 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Variant G gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca ACACCTTCTGAC CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAacaccttctgacAGATCGAGACCCGACGC chr4:121060785-Variant-G;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Variant G gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca AGATCACCATCA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAagatcaccatcaAGATCGAGACCCGACGC chr4:121060785-Variant-G;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Variant G gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca CTGTGCTTCACG CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAActgtgcttcacgAGATCGAGACCCGACGC chr4:121060785-Variant-G;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Variant G gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca CTAGTAGGATGG CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAActagtaggatggAGATCGAGACCCGACGC chr4:121060785-Variant-G;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Variant G gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca ACCTGGACGCAT CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaGtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAacctggacgcatAGATCGAGACCCGACGC chr4:121060785-Variant-G;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative T gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca ATTGACAAGCGA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAattgacaagcgaAGATCGAGACCCGACGC chr4:121060785-Alternative-T;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative T gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca AAGATCGTGCCG CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAaagatcgtgccgAGATCGAGACCCGACGC chr4:121060785-Alternative-T;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative T gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GCGACATCGTCA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgcgacatcgtcaAGATCGAGACCCGACGC chr4:121060785-Alternative-T;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative T gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GAATAAGCGAGA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgaataagcgagaAGATCGAGACCCGACGC chr4:121060785-Alternative-T;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Reference A gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca ACCTAGATACAC CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAacctagatacacAGATCGAGACCCGACGC chr4:121060785-Reference-A;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative T gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GATATCCGTCGG CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaTtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgatatccgtcggAGATCGAGACCCGACGC chr4:121060785-Alternative-T;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Reference A gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca AGTCGCTAACAT CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAagtcgctaacatAGATCGAGACCCGACGC chr4:121060785-Reference-A;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Reference A gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GACTAATTGTGC CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgactaattgtgcAGATCGAGACCCGACGC chr4:121060785-Reference-A;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative C gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GGCGATCCTGAA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAggcgatcctgaaAGATCGAGACCCGACGC chr4:121060785-Alternative-C;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Reference A gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GACCGACCGTAA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgaccgaccgtaaAGATCGAGACCCGACGC chr4:121060785-Reference-A;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Reference A gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca AGTATTGACAGG CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaAtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAagtattgacaggAGATCGAGACCCGACGC chr4:121060785-Reference-A;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative C gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca AGATCCAGGAGA CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAagatccaggagaAGATCGAGACCCGACGC chr4:121060785-Alternative-C;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative C gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca CGACGATTGTGC CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAcgacgattgtgcAGATCGAGACCCGACGC chr4:121060785-Alternative-C;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative C gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GTGACGATAAGT CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgtgacgataagtAGATCGAGACCCGACGC chr4:121060785-Alternative-C;Patient-72 chr4:121060785-AG DeNovo Patient-72 intergenic 0.000159 0.001025641 -0.22 0.64 -4.34 MAD2L1 72771 Alternative C gagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgca GCGGTCGTACTT CGACGCGGTCTCTCTCTgagcttttgctgttgtaatgtgactgtgaacctactcactacttgaaacaCtgggagaggagctgggcagaaacaggcactggaaacttcagtaagtgcaAGAGGGAGACGGACGTCTCAATAAgcggtcgtacttAGATCGAGACCCGACGC chr4:121060785-Alternative-C;Patient-72 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Variant T ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CGCATTCATAAC CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAcgcattcataacAGATCGAGACCCGACGC chr4:122103735-Variant-T;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative G ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GTCGCGGACTAT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAgtcgcggactatAGATCGAGACCCGACGC chr4:122103735-Alternative-G;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Variant T ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GCGATCGTAGGT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAgcgatcgtaggtAGATCGAGACCCGACGC chr4:122103735-Variant-T;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Variant T ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CACTGTACGCGT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAcactgtacgcgtAGATCGAGACCCGACGC chr4:122103735-Variant-T;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative G ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CTTAGGAGGTCG CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAActtaggaggtcgAGATCGAGACCCGACGC chr4:122103735-Alternative-G;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Variant T ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac ACGTTGCTATGA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAacgttgctatgaAGATCGAGACCCGACGC chr4:122103735-Variant-T;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Variant T ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CAGATCGGCATC CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaTggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAcagatcggcatcAGATCGAGACCCGACGC chr4:122103735-Variant-T;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative G ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GGTGCCGTGTTA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAggtgccgtgttaAGATCGAGACCCGACGC chr4:122103735-Alternative-G;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Reference C ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CAAGGAGTCAAT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAcaaggagtcaatAGATCGAGACCCGACGC chr4:122103735-Reference-C;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative G ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac ACAAGCGGCAAG CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAacaagcggcaagAGATCGAGACCCGACGC chr4:122103735-Alternative-G;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative A ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CTAACCGTAGAA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAActaaccgtagaaAGATCGAGACCCGACGC chr4:122103735-Alternative-A;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative A ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac ACATGACGGTGG CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAacatgacggtggAGATCGAGACCCGACGC chr4:122103735-Alternative-A;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Reference C ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac ATTACTACGCGA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAattactacgcgaAGATCGAGACCCGACGC chr4:122103735-Reference-C;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Reference C ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GCCACCATAACA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAgccaccataacaAGATCGAGACCCGACGC chr4:122103735-Reference-C;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative G ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac AGAGGTGAGTGG CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaGggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAagaggtgagtggAGATCGAGACCCGACGC chr4:122103735-Alternative-G;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative A ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GTGAATCCGTGC CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAgtgaatccgtgcAGATCGAGACCCGACGC chr4:122103735-Alternative-A;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Reference C ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CGCTCCGATGAA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAcgctccgatgaaAGATCGAGACCCGACGC chr4:122103735-Reference-C;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative A ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac AATCTGGTGACT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAaatctggtgactAGATCGAGACCCGACGC chr4:122103735-Alternative-A;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Alternative A ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac CTGAACATTGGT CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaAggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAActgaacattggtAGATCGAGACCCGACGC chr4:122103735-Alternative-A;Patient-80 chr4:122103735-CT DeNovo Patient-80 intronic TNIP3 3.2e-05 0.000142 1.22 14.52 4.02 TNIP3 44885 Reference C ttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaac GACGACGTCAGA CGACGCGGTCTCTCTCTttatactgcttcagtttatcctctcagctgacaaggaagtacatgactgaCggtaaatgacttggggactgtctccacaaattcttcttgatgaataaacAGAGGGAGACGGACGTCTCAATAAgacgacgtcagaAGATCGAGACCCGACGC chr4:122103735-Reference-C;Patient-80 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative C tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt ACTTCAGGTATC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAacttcaggtatcAGATCGAGACCCGACGC chr4:122386168-Alternative-C;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative C tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GTACGGAATTGT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAgtacggaattgtAGATCGAGACCCGACGC chr4:122386168-Alternative-C;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative C tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CATTCTGCCGTC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAcattctgccgtcAGATCGAGACCCGACGC chr4:122386168-Alternative-C;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative C tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CTTGCTCGGTAC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAActtgctcggtacAGATCGAGACCCGACGC chr4:122386168-Alternative-C;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative C tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GCAGTTCCGTCT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttCgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAgcagttccgtctAGATCGAGACCCGACGC chr4:122386168-Alternative-C;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative G tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt ACGTAGGACGGT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAacgtaggacggtAGATCGAGACCCGACGC chr4:122386168-Alternative-G;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative G tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GCGGTTATCTAT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAgcggttatctatAGATCGAGACCCGACGC chr4:122386168-Alternative-G;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative G tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CACTAGTTCGTT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAcactagttcgttAGATCGAGACCCGACGC chr4:122386168-Alternative-G;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Reference T tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CTCTAACCAACG CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAActctaaccaacgAGATCGAGACCCGACGC chr4:122386168-Reference-T;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Reference T tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CGTGAGAACGAC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAcgtgagaacgacAGATCGAGACCCGACGC chr4:122386168-Reference-T;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Reference T tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GTACTAGCGACC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAgtactagcgaccAGATCGAGACCCGACGC chr4:122386168-Reference-T;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Variant A tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CTGAAGTGCCGA CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAActgaagtgccgaAGATCGAGACCCGACGC chr4:122386168-Variant-A;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Reference T tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CACAGGTCGTTC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAcacaggtcgttcAGATCGAGACCCGACGC chr4:122386168-Reference-T;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative G tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt AAGGACGTGAAC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAaaggacgtgaacAGATCGAGACCCGACGC chr4:122386168-Alternative-G;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Variant A tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt ATTCCGGTGATT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAattccggtgattAGATCGAGACCCGACGC chr4:122386168-Variant-A;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Variant A tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt CGCGAAGTCAAT CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAcgcgaagtcaatAGATCGAGACCCGACGC chr4:122386168-Variant-A;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Variant A tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt ACACACGGTCCA CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAacacacggtccaAGATCGAGACCCGACGC chr4:122386168-Variant-A;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Variant A tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GGAGAATCGTTC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttAgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAggagaatcgttcAGATCGAGACCCGACGC chr4:122386168-Variant-A;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Reference T tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt GATGCTACTAAC CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttTgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAgatgctactaacAGATCGAGACCCGACGC chr4:122386168-Reference-T;Patient-37 chr4:122386168-TA DeNovo Patient-37 intergenic 3.2e-05 0.000513 -0.37 0.23 -0.62 QRFPR 83986 Alternative G tggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgt AACCGCTGATCG CGACGCGGTCTCTCTCTtggcttcatcctttgcagaggaaactcattagattgtgtattattggtttGgaggttcaaggaggaagtacctgcaccaagttgattaacctacagttgtAGAGGGAGACGGACGTCTCAATAAaaccgctgatcgAGATCGAGACCCGACGC chr4:122386168-Alternative-G;Patient-37 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative G ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CTGAGTTGCTAA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAActgagttgctaaAGATCGAGACCCGACGC chr4:123388363-Alternative-G;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative G ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GATCGAGGCTGA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAgatcgaggctgaAGATCGAGACCCGACGC chr4:123388363-Alternative-G;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative G ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GGCTGTCAATCA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAggctgtcaatcaAGATCGAGACCCGACGC chr4:123388363-Alternative-G;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative G ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GTATCTCGCTTA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAgtatctcgcttaAGATCGAGACCCGACGC chr4:123388363-Alternative-G;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative T ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt AATCATGCGCTA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAaatcatgcgctaAGATCGAGACCCGACGC chr4:123388363-Alternative-T;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative T ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GGTATCGCTACG CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAggtatcgctacgAGATCGAGACCCGACGC chr4:123388363-Alternative-T;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative G ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt AGTAACGTTGAG CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacGtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAagtaacgttgagAGATCGAGACCCGACGC chr4:123388363-Alternative-G;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative T ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt ACTACAAGTCGT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAactacaagtcgtAGATCGAGACCCGACGC chr4:123388363-Alternative-T;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Reference A ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CATCTCATGCGG CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAcatctcatgcggAGATCGAGACCCGACGC chr4:123388363-Reference-A;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative T ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GGCCGGATTCAA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAggccggattcaaAGATCGAGACCCGACGC chr4:123388363-Alternative-T;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Reference A ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GGTTATTCTGAG CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAggttattctgagAGATCGAGACCCGACGC chr4:123388363-Reference-A;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Reference A ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GTACGCAGAGGT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAgtacgcagaggtAGATCGAGACCCGACGC chr4:123388363-Reference-A;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Alternative T ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt ATTATGTGCGCA CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacTtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAattatgtgcgcaAGATCGAGACCCGACGC chr4:123388363-Alternative-T;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Reference A ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GTTACGTGAACT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAgttacgtgaactAGATCGAGACCCGACGC chr4:123388363-Reference-A;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Variant C ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CGGTCCAATGAT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAcggtccaatgatAGATCGAGACCCGACGC chr4:123388363-Variant-C;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Reference A ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt GAGCAATCAAGT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacAtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAgagcaatcaagtAGATCGAGACCCGACGC chr4:123388363-Reference-A;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Variant C ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CACACGAATTCT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAcacacgaattctAGATCGAGACCCGACGC chr4:123388363-Variant-C;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Variant C ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt ATCGGCTTCGAG CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAatcggcttcgagAGATCGAGACCCGACGC chr4:123388363-Variant-C;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Variant C ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CGACATGGAACT CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAcgacatggaactAGATCGAGACCCGACGC chr4:123388363-Variant-C;Patient-92 chr4:123388363-AC Inherited Patient-92 intergenic 3.2e-05 0.000513 0.81 11.97 -1.58 IL2 10712 Variant C ctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgt CGGAACATATAC CGACGCGGTCTCTCTCTctcatggtaactgtgcattttttactggtagagcttctagaagttgttacCtaggtggctaattttagagtcgtttgcctcatataatatttttaagtgtAGAGGGAGACGGACGTCTCAATAAcggaacatatacAGATCGAGACCCGACGC chr4:123388363-Variant-C;Patient-92 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Variant G tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat ACGTAGGAGATT CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAacgtaggagattAGATCGAGACCCGACGC chr4:123421570-Variant-G;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Variant G tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat ACGCTTGTGCAG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAacgcttgtgcagAGATCGAGACCCGACGC chr4:123421570-Variant-G;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative C tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat ATCTCACCGAAC CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAatctcaccgaacAGATCGAGACCCGACGC chr4:123421570-Alternative-C;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Variant G tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat AACGTGTTGCGG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAaacgtgttgcggAGATCGAGACCCGACGC chr4:123421570-Variant-G;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative C tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GTTCATCTAAGG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgttcatctaaggAGATCGAGACCCGACGC chr4:123421570-Alternative-C;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Variant G tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GATCGACGAGGT CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgatcgacgaggtAGATCGAGACCCGACGC chr4:123421570-Variant-G;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative C tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GCAGCAGTATAA CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgcagcagtataaAGATCGAGACCCGACGC chr4:123421570-Alternative-C;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative T tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CACTAGACATGG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAcactagacatggAGATCGAGACCCGACGC chr4:123421570-Alternative-T;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Variant G tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CTCGTATCGGAG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaGttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAActcgtatcggagAGATCGAGACCCGACGC chr4:123421570-Variant-G;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Reference A tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GACCGGTAACAC CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgaccggtaacacAGATCGAGACCCGACGC chr4:123421570-Reference-A;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative T tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat AGATCAACCAGG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAagatcaaccaggAGATCGAGACCCGACGC chr4:123421570-Alternative-T;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative T tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat AATGTCTCTCGT CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAaatgtctctcgtAGATCGAGACCCGACGC chr4:123421570-Alternative-T;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Reference A tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CTTACCTGGTTA CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAActtacctggttaAGATCGAGACCCGACGC chr4:123421570-Reference-A;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative T tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat ACGCAAGTACTA CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAacgcaagtactaAGATCGAGACCCGACGC chr4:123421570-Alternative-T;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Reference A tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GCCAACAGAGAT CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgccaacagagatAGATCGAGACCCGACGC chr4:123421570-Reference-A;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative C tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CGTATGCTATGA CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAcgtatgctatgaAGATCGAGACCCGACGC chr4:123421570-Alternative-C;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative T tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat GCCGAATCCGTT CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaTttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAgccgaatccgttAGATCGAGACCCGACGC chr4:123421570-Alternative-T;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Reference A tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CATAGCACAACC CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAcatagcacaaccAGATCGAGACCCGACGC chr4:123421570-Reference-A;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Alternative C tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat AAGTACCGATCA CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaCttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAaagtaccgatcaAGATCGAGACCCGACGC chr4:123421570-Alternative-C;Patient-105 chr4:123421570-AG DeNovo Patient-105 intergenic 0.000191 3.85e-05 0.5 9.37 -1.35 IL2 43919 Reference A tttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaat CGTAGCAACGAG CGACGCGGTCTCTCTCTtttcacagatatcggggttaggattccaacgtatcttttaaggggacacaAttcaaccaatagtaggtatctaattattactgacatatattgtcaaaatAGAGGGAGACGGACGTCTCAATAAcgtagcaacgagAGATCGAGACCCGACGC chr4:123421570-Reference-A;Patient-105 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative T gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt AAGCGCCAATTA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAaagcgccaattaAGATCGAGACCCGACGC chr4:123604874-Alternative-T;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Variant G gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CGGTAGCGTGTT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcggtagcgtgttAGATCGAGACCCGACGC chr4:123604874-Variant-G;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Variant G gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CGGCTTCGTACA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcggcttcgtacaAGATCGAGACCCGACGC chr4:123604874-Variant-G;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Variant G gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GTACGCACGAAG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgtacgcacgaagAGATCGAGACCCGACGC chr4:123604874-Variant-G;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Variant G gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt AATCGGTTGTCA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAaatcggttgtcaAGATCGAGACCCGACGC chr4:123604874-Variant-G;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Variant G gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CGTACATATGGT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatGttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcgtacatatggtAGATCGAGACCCGACGC chr4:123604874-Variant-G;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative T gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GGTTAAGGTCGG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAggttaaggtcggAGATCGAGACCCGACGC chr4:123604874-Alternative-T;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative C gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GCGAGTGGACTA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgcgagtggactaAGATCGAGACCCGACGC chr4:123604874-Alternative-C;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Reference A gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CGTAGGTGTCGT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcgtaggtgtcgtAGATCGAGACCCGACGC chr4:123604874-Reference-A;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Reference A gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GATATGCGATCA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgatatgcgatcaAGATCGAGACCCGACGC chr4:123604874-Reference-A;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative T gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CATCAAGGCACG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcatcaaggcacgAGATCGAGACCCGACGC chr4:123604874-Alternative-T;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative T gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt ACCTAGATTGAG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAacctagattgagAGATCGAGACCCGACGC chr4:123604874-Alternative-T;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Reference A gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt AATGAGGCGAAT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAaatgaggcgaatAGATCGAGACCCGACGC chr4:123604874-Reference-A;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Reference A gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GATCAGCGGACA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgatcagcggacaAGATCGAGACCCGACGC chr4:123604874-Reference-A;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative T gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CAAGTACACACG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatTttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcaagtacacacgAGATCGAGACCCGACGC chr4:123604874-Alternative-T;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative C gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GCGATGTAATCA CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgcgatgtaatcaAGATCGAGACCCGACGC chr4:123604874-Alternative-C;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Reference A gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GAGGTTGAGTAT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatAttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgaggttgagtatAGATCGAGACCCGACGC chr4:123604874-Reference-A;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative C gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt AGTGTAGGTGAT CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAagtgtaggtgatAGATCGAGACCCGACGC chr4:123604874-Alternative-C;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative C gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt GAATGGCTCGTC CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAgaatggctcgtcAGATCGAGACCCGACGC chr4:123604874-Alternative-C;Patient-22 chr4:123604874-AG DeNovo Patient-22 intergenic NA 0.000513 0.06 3.54 0.24 BBS12 48982 Alternative C gttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaatt CACTATCCGCAG CGACGCGGTCTCTCTCTgttccctccctgaaacagttccttctcacagtcttccaggtgctctccatCttcgattaaggggttgagagggtcactgtgctctcccatggcctaaattAGAGGGAGACGGACGTCTCAATAAcactatccgcagAGATCGAGACCCGACGC chr4:123604874-Alternative-C;Patient-22 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative A aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc AGTACGGTGTAA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAagtacggtgtaaAGATCGAGACCCGACGC chr4:123921396-Alternative-A;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative A aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc AACTCGCGAGGT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAaactcgcgaggtAGATCGAGACCCGACGC chr4:123921396-Alternative-A;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative A aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc GATACTTAACGG CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAgatacttaacggAGATCGAGACCCGACGC chr4:123921396-Alternative-A;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative A aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ACTATGGTCACT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAactatggtcactAGATCGAGACCCGACGC chr4:123921396-Alternative-A;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative A aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CGCAGTGTCTGT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtAgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcgcagtgtctgtAGATCGAGACCCGACGC chr4:123921396-Alternative-A;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Variant C aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ACGCTACGTAAT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAacgctacgtaatAGATCGAGACCCGACGC chr4:123921396-Variant-C;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative G aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc GGTAGTCGGCAA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAggtagtcggcaaAGATCGAGACCCGACGC chr4:123921396-Alternative-G;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Reference T aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ATCTGTCGAGAT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAatctgtcgagatAGATCGAGACCCGACGC chr4:123921396-Reference-T;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Variant C aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ATTGGCGAGCGA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAattggcgagcgaAGATCGAGACCCGACGC chr4:123921396-Variant-C;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative G aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CGACTTCGAGGT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcgacttcgaggtAGATCGAGACCCGACGC chr4:123921396-Alternative-G;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative G aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc GTGTAGCATGAA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAgtgtagcatgaaAGATCGAGACCCGACGC chr4:123921396-Alternative-G;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative G aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc AAGATGGTATGC CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAaagatggtatgcAGATCGAGACCCGACGC chr4:123921396-Alternative-G;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Reference T aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CAGCTACGCTGA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcagctacgctgaAGATCGAGACCCGACGC chr4:123921396-Reference-T;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Reference T aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CGTGTTCCATCG CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcgtgttccatcgAGATCGAGACCCGACGC chr4:123921396-Reference-T;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Alternative G aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc GTTACGTCTAAC CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtGgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAgttacgtctaacAGATCGAGACCCGACGC chr4:123921396-Alternative-G;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Reference T aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CGGTCAACGAAC CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcggtcaacgaacAGATCGAGACCCGACGC chr4:123921396-Reference-T;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Variant C aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc AACGCCGTCAAT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAaacgccgtcaatAGATCGAGACCCGACGC chr4:123921396-Variant-C;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Reference T aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ATAACGATGTGG CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtTgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAataacgatgtggAGATCGAGACCCGACGC chr4:123921396-Reference-T;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Variant C aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc ACTTGGATGCAT CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAacttggatgcatAGATCGAGACCCGACGC chr4:123921396-Variant-C;Patient-10 chr4:123921396-TC DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 0.06 3.57 0 SPATA5 77170 Variant C aaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaataccc CGGATGCTATTA CGACGCGGTCTCTCTCTaaggaagttttgggctgagacagtggggttttctagatatacaatcatgtCgtctgcatacagggacaatttgacttcctcttttcctaactgaatacccAGAGGGAGACGGACGTCTCAATAAcggatgctattaAGATCGAGACCCGACGC chr4:123921396-Variant-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative T aggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GTTGTGCGCTGA CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAgttgtgcgctgaAGATCGAGACCCGACGC chr4:123921397-Alternative-T;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative T aggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccct AATGCCGCGAAC CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAaatgccgcgaacAGATCGAGACCCGACGC chr4:123921397-Alternative-T;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Reference G aggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccct ATATGCCTGACA CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAatatgcctgacaAGATCGAGACCCGACGC chr4:123921397-Reference-G;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative T aggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccct AATAATGTGCGG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAaataatgtgcggAGATCGAGACCCGACGC chr4:123921397-Alternative-T;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Variant A aggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GTCAGACCACGT CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAgtcagaccacgtAGATCGAGACCCGACGC chr4:123921397-Variant-A;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Reference G aggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccct AACGCCACTATA CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAaacgccactataAGATCGAGACCCGACGC chr4:123921397-Reference-G;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Reference G aggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccct AGGCGTGATAAT CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAaggcgtgataatAGATCGAGACCCGACGC chr4:123921397-Reference-G;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Variant A aggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GATCGTCGATGC CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAgatcgtcgatgcAGATCGAGACCCGACGC chr4:123921397-Variant-A;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Variant A aggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CTGCGAGTTAGG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAActgcgagttaggAGATCGAGACCCGACGC chr4:123921397-Variant-A;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative C aggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CAGGTCGTTAAT CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAcaggtcgttaatAGATCGAGACCCGACGC chr4:123921397-Alternative-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative C aggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CGTAACCAGGCA CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAcgtaaccaggcaAGATCGAGACCCGACGC chr4:123921397-Alternative-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Variant A aggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccct ACCGAGATCTAC CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAaccgagatctacAGATCGAGACCCGACGC chr4:123921397-Variant-A;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative C aggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CAACCGTATCGG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAcaaccgtatcggAGATCGAGACCCGACGC chr4:123921397-Alternative-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Reference G aggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GTGCCGAATAAG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAgtgccgaataagAGATCGAGACCCGACGC chr4:123921397-Reference-G;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative C aggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GCGTGATAACGG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAgcgtgataacggAGATCGAGACCCGACGC chr4:123921397-Alternative-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative T aggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CTCAACGATCCT CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAActcaacgatcctAGATCGAGACCCGACGC chr4:123921397-Alternative-T;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Reference G aggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CTCTGAGTCGTC CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttGtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAActctgagtcgtcAGATCGAGACCCGACGC chr4:123921397-Reference-G;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative C aggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccct GGCTATTAGCCA CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttCtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAggctattagccaAGATCGAGACCCGACGC chr4:123921397-Alternative-C;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Variant A aggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CGTTGTATCTGT CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttAtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAAcgttgtatctgtAGATCGAGACCCGACGC chr4:123921397-Variant-A;Patient-10 chr4:123921397-GA DeNovo Patient-10 intronic SPATA5 NA 9.9e-05 -0.02 2.36 0 SPATA5 77171 Alternative T aggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccct CTAAGTACTACG CGACGCGGTCTCTCTCTaggaagttttgggctgagacagtggggttttctagatatacaatcatgttTtctgcatacagggacaatttgacttcctcttttcctaactgaataccctAGAGGGAGACGGACGTCTCAATAActaagtactacgAGATCGAGACCCGACGC chr4:123921397-Alternative-T;Patient-10 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative C ctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GAGCTCCGATGT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgagctccgatgtAGATCGAGACCCGACGC chr4:128574078-Alternative-C;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative C ctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GACTGGACAGAT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgactggacagatAGATCGAGACCCGACGC chr4:128574078-Alternative-C;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative C ctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CTCAATTCGTAC CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAActcaattcgtacAGATCGAGACCCGACGC chr4:128574078-Alternative-C;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative C ctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CGAAGACTGACG CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAcgaagactgacgAGATCGAGACCCGACGC chr4:128574078-Alternative-C;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative C ctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GGCTAGTGGTCT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaCtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAggctagtggtctAGATCGAGACCCGACGC chr4:128574078-Alternative-C;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative A ctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GAGATATGTGGT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgagatatgtggtAGATCGAGACCCGACGC chr4:128574078-Alternative-A;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative A ctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GGCTCAACGCAT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAggctcaacgcatAGATCGAGACCCGACGC chr4:128574078-Alternative-A;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative A ctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GAGGTTACCATT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgaggttaccattAGATCGAGACCCGACGC chr4:128574078-Alternative-A;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative A ctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CTCAAGGTTGAT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAActcaaggttgatAGATCGAGACCCGACGC chr4:128574078-Alternative-A;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Alternative A ctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt ATCTTACGCCTA CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaAtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAatcttacgcctaAGATCGAGACCCGACGC chr4:128574078-Alternative-A;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Reference T ctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt ACGCGTTATCGG CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAacgcgttatcggAGATCGAGACCCGACGC chr4:128574078-Reference-T;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Variant G ctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GATCGATCGGCA CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgatcgatcggcaAGATCGAGACCCGACGC chr4:128574078-Variant-G;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Variant G ctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CTAGCTAGACGG CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAActagctagacggAGATCGAGACCCGACGC chr4:128574078-Variant-G;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Variant G ctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CGTACATGCGCT CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAcgtacatgcgctAGATCGAGACCCGACGC chr4:128574078-Variant-G;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Reference T ctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt AACACGTGCATC CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAaacacgtgcatcAGATCGAGACCCGACGC chr4:128574078-Reference-T;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Reference T ctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt AGAGCTAGGATA CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAagagctaggataAGATCGAGACCCGACGC chr4:128574078-Reference-T;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Variant G ctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt ATAGACGCAACA CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAatagacgcaacaAGATCGAGACCCGACGC chr4:128574078-Variant-G;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Variant G ctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt AGTTGAGCGCAC CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaGtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAagttgagcgcacAGATCGAGACCCGACGC chr4:128574078-Variant-G;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Reference T ctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt GTCAGTTCCGTC CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAgtcagttccgtcAGATCGAGACCCGACGC chr4:128574078-Reference-T;Patient-81 chr4:128574078-TG DeNovo Patient-81 intronic INTU 0.000368 9.9e-05 0 2.62 0 INTU 19990 Reference T ctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaatt CATTGGATTGCA CGACGCGGTCTCTCTCTctattgattattgccacaatttcagctcctgttattggtctattcagagaTtcaacttcttcctggtttagtcttgggagagtgtatatgtcgaggaattAGAGGGAGACGGACGTCTCAATAAcattggattgcaAGATCGAGACCCGACGC chr4:128574078-Reference-T;Patient-81 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Reference C gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagca AACTTCGTCCAT CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAaacttcgtccatAGATCGAGACCCGACGC chr4:128775075-Reference-C;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Reference C gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagca AGTCGCATGCGT CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAagtcgcatgcgtAGATCGAGACCCGACGC chr4:128775075-Reference-C;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Reference C gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagca GGCCATCACAAG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAggccatcacaagAGATCGAGACCCGACGC chr4:128775075-Reference-C;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Reference C gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagca GTCAATGGTATC CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAgtcaatggtatcAGATCGAGACCCGACGC chr4:128775075-Reference-C;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Variant G gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagca CTAGATAATCGG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAActagataatcggAGATCGAGACCCGACGC chr4:128775075-Variant-G;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Variant G gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagca AATGTGGTCGAA CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAaatgtggtcgaaAGATCGAGACCCGACGC chr4:128775075-Variant-G;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Reference C gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagca GTAATATGAGCG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaCttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAgtaatatgagcgAGATCGAGACCCGACGC chr4:128775075-Reference-C;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative A gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagca CGTACTACGCGT CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAcgtactacgcgtAGATCGAGACCCGACGC chr4:128775075-Alternative-A;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative A gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagca GATTCGAGCGAG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAgattcgagcgagAGATCGAGACCCGACGC chr4:128775075-Alternative-A;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative A gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagca ATAGGTAGCCTA CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAataggtagcctaAGATCGAGACCCGACGC chr4:128775075-Alternative-A;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative A gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagca ACTTCGATCCGG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAacttcgatccggAGATCGAGACCCGACGC chr4:128775075-Alternative-A;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative A gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagca GAATGCCGACAC CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaAttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAgaatgccgacacAGATCGAGACCCGACGC chr4:128775075-Alternative-A;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative T gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagca AAGCGTCGTCCA CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAaagcgtcgtccaAGATCGAGACCCGACGC chr4:128775075-Alternative-T;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative T gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagca AGAATCTCGACC CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAagaatctcgaccAGATCGAGACCCGACGC chr4:128775075-Alternative-T;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative T gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagca GGCCGTAACGTT CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAggccgtaacgttAGATCGAGACCCGACGC chr4:128775075-Alternative-T;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Variant G gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagca CGTACCGTGTTC CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAcgtaccgtgttcAGATCGAGACCCGACGC chr4:128775075-Variant-G;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative T gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagca GGTCGTACTGAC CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAggtcgtactgacAGATCGAGACCCGACGC chr4:128775075-Alternative-T;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Variant G gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagca CATGTGAATTCG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAcatgtgaattcgAGATCGAGACCCGACGC chr4:128775075-Variant-G;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Variant G gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagca GCGCACGATTCA CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaGttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAgcgcacgattcaAGATCGAGACCCGACGC chr4:128775075-Variant-G;Patient-12 chr4:128775075-CG DeNovo Patient-12 intergenic NA 0.000513 NA NA NA PLK4 26940 Alternative T gatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagca AGGTGCGTTGAG CGACGCGGTCTCTCTCTgatatcaaaccagaaaagtttggtataaataacaaaagtatttttctaaaTttgctcatgaacatagacataataaattataaatttctaaattctagcaAGAGGGAGACGGACGTCTCAATAAaggtgcgttgagAGATCGAGACCCGACGC chr4:128775075-Alternative-T;Patient-12 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative G aggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CGATGAACAAGG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAcgatgaacaaggAGATCGAGACCCGACGC chr4:128781267-Alternative-G;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative G aggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa AGGTGGAACGAG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAaggtggaacgagAGATCGAGACCCGACGC chr4:128781267-Alternative-G;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative G aggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa ATATACGCGGAT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAatatacgcggatAGATCGAGACCCGACGC chr4:128781267-Alternative-G;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative G aggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa ACGTACACACGT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAacgtacacacgtAGATCGAGACCCGACGC chr4:128781267-Alternative-G;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative G aggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa GACGTAACGCCT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgGgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAgacgtaacgcctAGATCGAGACCCGACGC chr4:128781267-Alternative-G;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Reference T aggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CTGTGGATGCAC CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAActgtggatgcacAGATCGAGACCCGACGC chr4:128781267-Reference-T;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Reference T aggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa GTCTCGTCAATT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAgtctcgtcaattAGATCGAGACCCGACGC chr4:128781267-Reference-T;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Reference T aggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa AGGTGGAGATAA CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAaggtggagataaAGATCGAGACCCGACGC chr4:128781267-Reference-T;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Reference T aggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa GCAATCCTGGAC CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAgcaatcctggacAGATCGAGACCCGACGC chr4:128781267-Reference-T;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative A aggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CTTACGTCGAAG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAActtacgtcgaagAGATCGAGACCCGACGC chr4:128781267-Alternative-A;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Reference T aggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CTGAGTTACCGG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgTgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAActgagttaccggAGATCGAGACCCGACGC chr4:128781267-Reference-T;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative A aggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa ATCACCACTGCG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAatcaccactgcgAGATCGAGACCCGACGC chr4:128781267-Alternative-A;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative A aggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CATATAGGCCGC CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAcatataggccgcAGATCGAGACCCGACGC chr4:128781267-Alternative-A;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative A aggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CGCGTCATAACG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAcgcgtcataacgAGATCGAGACCCGACGC chr4:128781267-Alternative-A;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Variant C aggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa GATAGGTTATGG CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAgataggttatggAGATCGAGACCCGACGC chr4:128781267-Variant-C;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Alternative A aggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CGTGAATTACCA CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgAgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAcgtgaattaccaAGATCGAGACCCGACGC chr4:128781267-Alternative-A;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Variant C aggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa CGAACGACCGTT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAcgaacgaccgttAGATCGAGACCCGACGC chr4:128781267-Variant-C;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Variant C aggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa AAGACTGGCCGT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAaagactggccgtAGATCGAGACCCGACGC chr4:128781267-Variant-C;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Variant C aggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa ATACCGCCTTAT CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAataccgccttatAGATCGAGACCCGACGC chr4:128781267-Variant-C;Patient-68 chr4:128781267-TC Inherited Patient-68 intergenic 6.4e-05 0.00103 0.01 2.74 0 PLK4 20748 Variant C aggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaa ATTGCACGCTAA CGACGCGGTCTCTCTCTaggagccaagacggccaaataggaacagctccagtctacagctcccagcgCgagcgacgcagaagacgggtgatttctgcatttccaactgagctttgaaAGAGGGAGACGGACGTCTCAATAAattgcacgctaaAGATCGAGACCCGACGC chr4:128781267-Variant-C;Patient-68 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative T caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc CGGAAGCTGACT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAcggaagctgactAGATCGAGACCCGACGC chr4:141039338-Alternative-T;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Reference G caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GAGCATAAGTGT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgagcataagtgtAGATCGAGACCCGACGC chr4:141039338-Reference-G;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative T caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GATAGTCGTAAG CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgatagtcgtaagAGATCGAGACCCGACGC chr4:141039338-Alternative-T;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative T caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GCGAACGATTGC CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgcgaacgattgcAGATCGAGACCCGACGC chr4:141039338-Alternative-T;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Reference G caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GGTAGTTGAGCG CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAggtagttgagcgAGATCGAGACCCGACGC chr4:141039338-Reference-G;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Reference G caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GGAATACGCAAG CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAggaatacgcaagAGATCGAGACCCGACGC chr4:141039338-Reference-G;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative T caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc CTCTTGCACGCA CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAActcttgcacgcaAGATCGAGACCCGACGC chr4:141039338-Alternative-T;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Reference G caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GTAATGATCGGT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgtaatgatcggtAGATCGAGACCCGACGC chr4:141039338-Reference-G;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative T caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc CTATAGATCCGG CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccTtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAActatagatccggAGATCGAGACCCGACGC chr4:141039338-Alternative-T;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Variant A caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc CTCACGACGAAC CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAActcacgacgaacAGATCGAGACCCGACGC chr4:141039338-Variant-A;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Variant A caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GATGCGAATTGT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgatgcgaattgtAGATCGAGACCCGACGC chr4:141039338-Variant-A;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Variant A caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc AGTTCGACTACA CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAagttcgactacaAGATCGAGACCCGACGC chr4:141039338-Variant-A;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Reference G caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GCGAATAGTACA CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccGtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAgcgaatagtacaAGATCGAGACCCGACGC chr4:141039338-Reference-G;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Variant A caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc AGAGCCTACCGT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAagagcctaccgtAGATCGAGACCCGACGC chr4:141039338-Variant-A;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Variant A caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GGACTCGTTGAC CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccAtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAggactcgttgacAGATCGAGACCCGACGC chr4:141039338-Variant-A;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative C caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc ACTTCGTTAACC CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAacttcgttaaccAGATCGAGACCCGACGC chr4:141039338-Alternative-C;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative C caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc CACGTATGCGAC CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAcacgtatgcgacAGATCGAGACCCGACGC chr4:141039338-Alternative-C;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative C caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc ATCGGAGATAAG CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAatcggagataagAGATCGAGACCCGACGC chr4:141039338-Alternative-C;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative C caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc ACGTCACGATTA CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAacgtcacgattaAGATCGAGACCCGACGC chr4:141039338-Alternative-C;Patient-55 chr4:141039338-GA Inherited Patient-55 intronic MAML3 0.00014 4.95e-05 -0.21 0.67 0.67 MAML3 35999 Alternative C caacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaacc GGATACGATCTT CGACGCGGTCTCTCTCTcaacccccaggttaaaatatttgtgggtttgttttttttttttccctaccCtgttcaatcttttaaaaattaatagtcctgagtgcagtcttctggaaccAGAGGGAGACGGACGTCTCAATAAggatacgatcttAGATCGAGACCCGACGC chr4:141039338-Alternative-C;Patient-55 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative G cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GGCCAATACGGT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAggccaatacggtAGATCGAGACCCGACGC chr4:142471791-Alternative-G;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Reference T cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GAAGTTAGCAGT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAgaagttagcagtAGATCGAGACCCGACGC chr4:142471791-Reference-T;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Reference T cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa CAACACAACCTA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAcaacacaacctaAGATCGAGACCCGACGC chr4:142471791-Reference-T;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Reference T cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GCAGTAGAGTAT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAgcagtagagtatAGATCGAGACCCGACGC chr4:142471791-Reference-T;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative G cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GACGATACCGTC CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAgacgataccgtcAGATCGAGACCCGACGC chr4:142471791-Alternative-G;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative G cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ATTCACTGCATC CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAattcactgcatcAGATCGAGACCCGACGC chr4:142471791-Alternative-G;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative G cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ATCCGTTAACGC CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAatccgttaacgcAGATCGAGACCCGACGC chr4:142471791-Alternative-G;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative G cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ACTCGGTTACTT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacGacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAactcggttacttAGATCGAGACCCGACGC chr4:142471791-Alternative-G;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Reference T cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ACCGTGTTACGC CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAaccgtgttacgcAGATCGAGACCCGACGC chr4:142471791-Reference-T;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Reference T cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa CTCGCTTCAGCA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacTacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAActcgcttcagcaAGATCGAGACCCGACGC chr4:142471791-Reference-T;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Variant A cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ATCCTGTACGTC CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAatcctgtacgtcAGATCGAGACCCGACGC chr4:142471791-Variant-A;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Variant A cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GGCGAGATTATA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAggcgagattataAGATCGAGACCCGACGC chr4:142471791-Variant-A;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Variant A cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa CTAACTACGCGA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAActaactacgcgaAGATCGAGACCCGACGC chr4:142471791-Variant-A;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Variant A cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GGTCGTCTGAGT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAggtcgtctgagtAGATCGAGACCCGACGC chr4:142471791-Variant-A;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative C cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa AGACCGTACCGA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAagaccgtaccgaAGATCGAGACCCGACGC chr4:142471791-Alternative-C;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative C cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa AGCTGTTGCGCT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAagctgttgcgctAGATCGAGACCCGACGC chr4:142471791-Alternative-C;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Variant A cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa AAGCGGCGGATA CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacAacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAaagcggcggataAGATCGAGACCCGACGC chr4:142471791-Variant-A;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative C cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa GTGGCTCGACAT CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAgtggctcgacatAGATCGAGACCCGACGC chr4:142471791-Alternative-C;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative C cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa ATCGTAAGGCGG CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAAatcgtaaggcggAGATCGAGACCCGACGC chr4:142471791-Alternative-C;Patient-16 chr4:142471791-TA DeNovo Patient-16 intergenic NA 0.000513 -0.28 0.43 0 IL15 85957 Alternative C cagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaa CTACGCTGCAAG CGACGCGGTCTCTCTCTcagagaagtccttaaaggagctgatggagctgaaagccaggctcgagaacCacgtgaggaatgcagaagcctcaggagccgatgcgaccaactggaagaaAGAGGGAGACGGACGTCTCAATAActacgctgcaagAGATCGAGACCCGACGC chr4:142471791-Alternative-C;Patient-16 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative C gggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GTCATAGACAAC CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgtcatagacaacAGATCGAGACCCGACGC chr4:142504802-Alternative-C;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative T gggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CTGCGATTCTAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAActgcgattctaaAGATCGAGACCCGACGC chr4:142504802-Alternative-T;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Variant G gggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GTAGCGCTCGAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgtagcgctcgaaAGATCGAGACCCGACGC chr4:142504802-Variant-G;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative T gggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GCGCGTATGGAT CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgcgcgtatggatAGATCGAGACCCGACGC chr4:142504802-Alternative-T;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Variant G gggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CTCGCGTCGTTA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAActcgcgtcgttaAGATCGAGACCCGACGC chr4:142504802-Variant-G;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative C gggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact AGTACACCACGT CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAagtacaccacgtAGATCGAGACCCGACGC chr4:142504802-Alternative-C;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative T gggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GTACTCACGATA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgtactcacgataAGATCGAGACCCGACGC chr4:142504802-Alternative-T;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative T gggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GAGAGCGGTCAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgagagcggtcaaAGATCGAGACCCGACGC chr4:142504802-Alternative-T;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative C gggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact ATCGCACGCCAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAatcgcacgccaaAGATCGAGACCCGACGC chr4:142504802-Alternative-C;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Variant G gggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GTACGCGTGGTT CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgtacgcgtggttAGATCGAGACCCGACGC chr4:142504802-Variant-G;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative T gggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CTGTGGATTCAT CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaTgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAActgtggattcatAGATCGAGACCCGACGC chr4:142504802-Alternative-T;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Reference A gggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact ATAGGCACGACC CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAataggcacgaccAGATCGAGACCCGACGC chr4:142504802-Reference-A;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative C gggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CGGTGATACAGG CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAcggtgatacaggAGATCGAGACCCGACGC chr4:142504802-Alternative-C;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Variant G gggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact ACCAACGATTCA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAaccaacgattcaAGATCGAGACCCGACGC chr4:142504802-Variant-G;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Reference A gggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CTAAGACGGTAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAActaagacggtaaAGATCGAGACCCGACGC chr4:142504802-Reference-A;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Alternative C gggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GCGAATGTCGGT CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaCgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgcgaatgtcggtAGATCGAGACCCGACGC chr4:142504802-Alternative-C;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Reference A gggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact GACTATCGATGA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAgactatcgatgaAGATCGAGACCCGACGC chr4:142504802-Reference-A;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Reference A gggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact ACGGTGCGTGAA CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAacggtgcgtgaaAGATCGAGACCCGACGC chr4:142504802-Reference-A;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Variant G gggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact AGTCTAGGTAAG CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaGgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAagtctaggtaagAGATCGAGACCCGACGC chr4:142504802-Variant-G;Patient-44 chr4:142504802-AG DeNovo Patient-44 intergenic NA 0.000512821 0.5 9.34 0 IL15 52946 Reference A gggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggact CGCTGATGGAAC CGACGCGGTCTCTCTCTgggaactttaatactccactgagagcactagataggtcattaagacagaaAgtcaacaaagaaacaatggacttaaactataccctacaacaaatggactAGAGGGAGACGGACGTCTCAATAAcgctgatggaacAGATCGAGACCCGACGC chr4:142504802-Reference-A;Patient-44 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative C gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GAGTATCACCAT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgagtatcaccatAGATCGAGACCCGACGC chr4:142536545-Alternative-C;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Reference A gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct ATTCGCTGTAGA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAattcgctgtagaAGATCGAGACCCGACGC chr4:142536545-Reference-A;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative C gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CGTAGGTTCATA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcgtaggttcataAGATCGAGACCCGACGC chr4:142536545-Alternative-C;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative C gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GTAAGCGTCACG CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgtaagcgtcacgAGATCGAGACCCGACGC chr4:142536545-Alternative-C;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative C gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CAGGAGATGTGC CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcaggagatgtgcAGATCGAGACCCGACGC chr4:142536545-Alternative-C;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Reference A gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CGTGTGCGGTAT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcgtgtgcggtatAGATCGAGACCCGACGC chr4:142536545-Reference-A;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative T gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CAGCTCTCGCAT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcagctctcgcatAGATCGAGACCCGACGC chr4:142536545-Alternative-T;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Reference A gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CAGAGATACGGC CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcagagatacggcAGATCGAGACCCGACGC chr4:142536545-Reference-A;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Reference A gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CGTCTAACGCCT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcgtctaacgcctAGATCGAGACCCGACGC chr4:142536545-Reference-A;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Reference A gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GATAGAGGTGAA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcAgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgatagaggtgaaAGATCGAGACCCGACGC chr4:142536545-Reference-A;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative C gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CGTTAGCCGTGT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcCgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcgttagccgtgtAGATCGAGACCCGACGC chr4:142536545-Alternative-C;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Variant G gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct AGGCTAACCAAT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAaggctaaccaatAGATCGAGACCCGACGC chr4:142536545-Variant-G;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Variant G gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GGCGCGTAAGTT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAggcgcgtaagttAGATCGAGACCCGACGC chr4:142536545-Variant-G;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative T gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct ACATAGCCGGTT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAacatagccggttAGATCGAGACCCGACGC chr4:142536545-Alternative-T;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Variant G gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GTCGCATATCAA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgtcgcatatcaaAGATCGAGACCCGACGC chr4:142536545-Variant-G;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative T gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct CAACCGTCTAAT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAcaaccgtctaatAGATCGAGACCCGACGC chr4:142536545-Alternative-T;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative T gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct ACGCTCCACGAA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAacgctccacgaaAGATCGAGACCCGACGC chr4:142536545-Alternative-T;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Variant G gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GCGATTCCTCGT CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgcgattcctcgtAGATCGAGACCCGACGC chr4:142536545-Variant-G;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Variant G gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct GATTCTTAGTGG CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcGgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAgattcttagtggAGATCGAGACCCGACGC chr4:142536545-Variant-G;Patient-87 chr4:142536545-AG Inherited Patient-87 intergenic 0.000127 0.000513 0.05 3.47 0.05 IL15 21203 Alternative T gtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgct ACGGTCGAACGA CGACGCGGTCTCTCTCTgtgacaacgtgctagcagccctcgctggctctcggagcctccttggcctcTgcgtctgctctggccgcactctaggagcccttcagcccgctgctgcgctAGAGGGAGACGGACGTCTCAATAAacggtcgaacgaAGATCGAGACCCGACGC chr4:142536545-Alternative-T;Patient-87 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative T aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CTGGTTATACGT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAActggttatacgtAGATCGAGACCCGACGC chr4:144289890-Alternative-T;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Reference G aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc ACGTAGAACGAG CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAacgtagaacgagAGATCGAGACCCGACGC chr4:144289890-Reference-G;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative T aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CTAGTGGTATAC CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAActagtggtatacAGATCGAGACCCGACGC chr4:144289890-Alternative-T;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Reference G aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GACCAACTTCAA CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAgaccaacttcaaAGATCGAGACCCGACGC chr4:144289890-Reference-G;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative T aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGTTACGCTGAG CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcgttacgctgagAGATCGAGACCCGACGC chr4:144289890-Alternative-T;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Variant A aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGATCTCGCTGT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcgatctcgctgtAGATCGAGACCCGACGC chr4:144289890-Variant-A;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Variant A aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGCCTGATTATT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcgcctgattattAGATCGAGACCCGACGC chr4:144289890-Variant-A;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative T aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc AGAACGCAAGCA CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAagaacgcaagcaAGATCGAGACCCGACGC chr4:144289890-Alternative-T;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative C aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GGTTATGCTCTT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAggttatgctcttAGATCGAGACCCGACGC chr4:144289890-Alternative-C;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative C aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGTATCAAGTAC CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcgtatcaagtacAGATCGAGACCCGACGC chr4:144289890-Alternative-C;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative C aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GCGAGTGGAGAA CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAgcgagtggagaaAGATCGAGACCCGACGC chr4:144289890-Alternative-C;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative C aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GGCTGTGTTCCT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAggctgtgttcctAGATCGAGACCCGACGC chr4:144289890-Alternative-C;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Reference G aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGGATCTCGTAC CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcggatctcgtacAGATCGAGACCCGACGC chr4:144289890-Reference-G;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative T aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc ACACACGCCAAG CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcTatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAacacacgccaagAGATCGAGACCCGACGC chr4:144289890-Alternative-T;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Variant A aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc AGATGTCGTATC CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAagatgtcgtatcAGATCGAGACCCGACGC chr4:144289890-Variant-A;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Reference G aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CTCAATCCGTGT CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAActcaatccgtgtAGATCGAGACCCGACGC chr4:144289890-Reference-G;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Reference G aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GCATACGAACGC CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcGatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAgcatacgaacgcAGATCGAGACCCGACGC chr4:144289890-Reference-G;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Variant A aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc CGCAATACAACG CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAcgcaatacaacgAGATCGAGACCCGACGC chr4:144289890-Variant-A;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Variant A aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc GCCACTAGCTAA CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcAatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAgccactagctaaAGATCGAGACCCGACGC chr4:144289890-Variant-A;Patient-80 chr4:144289890-GA DeNovo Patient-80 intronic GAB1 3.2e-05 3.84e-05 0.06 3.56 1.5 GAB1 31906 Alternative C aactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggcc ACAGCGAACATA CGACGCGGTCTCTCTCTaactcattcaatgtgcatttttctcacctgctcttttgtttgcttgctgcCatacaaggctgtataaagaaatacttggtgctttctgtgacagcaggccAGAGGGAGACGGACGTCTCAATAAacagcgaacataAGATCGAGACCCGACGC chr4:144289890-Alternative-C;Patient-80 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Variant C ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttg AGGACGTGCTAT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAaggacgtgctatAGATCGAGACCCGACGC chr4:146304155-Variant-C;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Variant C ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttg GCAACAACAACA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgcaacaacaacaAGATCGAGACCCGACGC chr4:146304155-Variant-C;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Variant C ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttg GCAGTTCGTGGT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgcagttcgtggtAGATCGAGACCCGACGC chr4:146304155-Variant-C;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Reference G ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttg GCGCATCACAAG CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgcgcatcacaagAGATCGAGACCCGACGC chr4:146304155-Reference-G;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Reference G ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttg CAGCTAATTGGT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAcagctaattggtAGATCGAGACCCGACGC chr4:146304155-Reference-G;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Reference G ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttg GAGAGTTACCAT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgagagttaccatAGATCGAGACCCGACGC chr4:146304155-Reference-G;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Variant C ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttg GGATCTCGTACG CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAggatctcgtacgAGATCGAGACCCGACGC chr4:146304155-Variant-C;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Variant C ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttg GGCCAAGATTGC CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggCaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAggccaagattgcAGATCGAGACCCGACGC chr4:146304155-Variant-C;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative T ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttg ACGATACTTCGA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAacgatacttcgaAGATCGAGACCCGACGC chr4:146304155-Alternative-T;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative T ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttg CGTTCTCGACCA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAcgttctcgaccaAGATCGAGACCCGACGC chr4:146304155-Alternative-T;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative A ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttg GTAAGCGTTACA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgtaagcgttacaAGATCGAGACCCGACGC chr4:146304155-Alternative-A;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative T ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttg CAGCAACATCAT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAcagcaacatcatAGATCGAGACCCGACGC chr4:146304155-Alternative-T;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Reference G ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttg GTAACCTGGTCT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgtaacctggtctAGATCGAGACCCGACGC chr4:146304155-Reference-G;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative A ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttg GACGTAATCACG CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgacgtaatcacgAGATCGAGACCCGACGC chr4:146304155-Alternative-A;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative T ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttg AATAGGCCAACA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAaataggccaacaAGATCGAGACCCGACGC chr4:146304155-Alternative-T;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Reference G ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttg GGTCGGTTGAGA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggGaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAggtcggttgagaAGATCGAGACCCGACGC chr4:146304155-Reference-G;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative A ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttg GCGACTATGCCA CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAgcgactatgccaAGATCGAGACCCGACGC chr4:146304155-Alternative-A;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative A ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttg AGCAGTTATCGT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAagcagttatcgtAGATCGAGACCCGACGC chr4:146304155-Alternative-A;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative A ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttg GGAACACAGCGT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggAaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAggaacacagcgtAGATCGAGACCCGACGC chr4:146304155-Alternative-A;Patient-55 chr4:146304155-GC Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.23 0.58 -0.71 SMAD1 98795 Alternative T ctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttg CAAGTCTCCTAT CGACGCGGTCTCTCTCTctactacgaaggagcaggtggaacaatccttggagatcacacgggtttggTaataatacatctttccaccagccagactggaaagacctcctaacacttgAGAGGGAGACGGACGTCTCAATAAcaagtctcctatAGATCGAGACCCGACGC chr4:146304155-Alternative-T;Patient-55 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative T gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTCTAGCCGGAT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActctagccggatAGATCGAGACCCGACGC chr4:147566872-Alternative-T;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Variant G gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca AACGCAACCACA CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAaacgcaaccacaAGATCGAGACCCGACGC chr4:147566872-Variant-G;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative T gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca ATCTGTTCGTGT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAatctgttcgtgtAGATCGAGACCCGACGC chr4:147566872-Alternative-T;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative T gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTTGTTAGATCG CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActtgttagatcgAGATCGAGACCCGACGC chr4:147566872-Alternative-T;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Variant G gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca GACGCAGCATTC CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAgacgcagcattcAGATCGAGACCCGACGC chr4:147566872-Variant-G;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Variant G gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca AGTCTCCTAGAA CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAagtctcctagaaAGATCGAGACCCGACGC chr4:147566872-Variant-G;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative T gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTAACTAGGCGT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActaactaggcgtAGATCGAGACCCGACGC chr4:147566872-Alternative-T;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative T gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTGTTAGACGCG CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactTaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActgttagacgcgAGATCGAGACCCGACGC chr4:147566872-Alternative-T;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Variant G gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca ATAGGCATGACT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAataggcatgactAGATCGAGACCCGACGC chr4:147566872-Variant-G;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Variant G gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CAAGCGACATTC CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactGaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAcaagcgacattcAGATCGAGACCCGACGC chr4:147566872-Variant-G;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative A gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTTATGAGTGGT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActtatgagtggtAGATCGAGACCCGACGC chr4:147566872-Alternative-A;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Reference C gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca ACAGACGGACAT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAacagacggacatAGATCGAGACCCGACGC chr4:147566872-Reference-C;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Reference C gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTATGAGCTGAT CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActatgagctgatAGATCGAGACCCGACGC chr4:147566872-Reference-C;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Reference C gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca AGTATCGAGGCG CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAagtatcgaggcgAGATCGAGACCCGACGC chr4:147566872-Reference-C;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative A gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CTGGTACGAGCA CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAActggtacgagcaAGATCGAGACCCGACGC chr4:147566872-Alternative-A;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative A gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca ACGTAAGCGCGA CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAacgtaagcgcgaAGATCGAGACCCGACGC chr4:147566872-Alternative-A;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative A gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca AATCTGTGATCG CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAaatctgtgatcgAGATCGAGACCCGACGC chr4:147566872-Alternative-A;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Reference C gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CATAATGAGCGA CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAcataatgagcgaAGATCGAGACCCGACGC chr4:147566872-Reference-C;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Reference C gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca AGGCTCTCAACG CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactCaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAaggctctcaacgAGATCGAGACCCGACGC chr4:147566872-Reference-C;Patient-26 chr4:147566872-CG DeNovo Patient-26 intergenic 9.6e-05 0.000513 0.36 7.89 -1.06 POU4F2 6826 Alternative A gtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaaca CAGCGAACTACC CGACGCGGTCTCTCTCTgtttcgcaaaaactatttatatctctaagtaaatgattcatattagaactAaaaacttcactttacttttcagttggtcttggagggggttgctgcaacaAGAGGGAGACGGACGTCTCAATAAcagcgaactaccAGATCGAGACCCGACGC chr4:147566872-Alternative-A;Patient-26 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Reference C tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgag AGGTATTCCTGA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAaggtattcctgaAGATCGAGACCCGACGC chr4:150911476-Reference-C;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Reference C tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgag GCCTTCGACACT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgccttcgacactAGATCGAGACCCGACGC chr4:150911476-Reference-C;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Reference C tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgag CGCCTGAACATT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAcgcctgaacattAGATCGAGACCCGACGC chr4:150911476-Reference-C;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Variant A tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgag ACAACATCCAGG CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAacaacatccaggAGATCGAGACCCGACGC chr4:150911476-Variant-A;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Variant A tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgag GCAAGATAGCGA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgcaagatagcgaAGATCGAGACCCGACGC chr4:150911476-Variant-A;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative T tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgag CACGAGATTCGA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAcacgagattcgaAGATCGAGACCCGACGC chr4:150911476-Alternative-T;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative T tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgag GCGAACAGCAAG CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgcgaacagcaagAGATCGAGACCCGACGC chr4:150911476-Alternative-T;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Variant A tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgag ACAGCTCCGAAG CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAacagctccgaagAGATCGAGACCCGACGC chr4:150911476-Variant-A;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative G tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgag ATTCACTGGTAC CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAattcactggtacAGATCGAGACCCGACGC chr4:150911476-Alternative-G;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Variant A tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgag CGTTCAGCACCA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAcgttcagcaccaAGATCGAGACCCGACGC chr4:150911476-Variant-A;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Reference C tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgag GTACGCAAGTAT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgtacgcaagtatAGATCGAGACCCGACGC chr4:150911476-Reference-C;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative G tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgag GACGTCGTACCA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgacgtcgtaccaAGATCGAGACCCGACGC chr4:150911476-Alternative-G;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative G tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgag CTGCGGACTCAT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAActgcggactcatAGATCGAGACCCGACGC chr4:150911476-Alternative-G;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative G tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgag CGTTGGAGCGTT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAcgttggagcgttAGATCGAGACCCGACGC chr4:150911476-Alternative-G;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Variant A tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgag AGAACCGTCGAG CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagActttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAagaaccgtcgagAGATCGAGACCCGACGC chr4:150911476-Variant-A;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative G tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgag AACCGCATACTA CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagGctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAaaccgcatactaAGATCGAGACCCGACGC chr4:150911476-Alternative-G;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative T tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgag AACGCTCATAAC CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAaacgctcataacAGATCGAGACCCGACGC chr4:150911476-Alternative-T;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Reference C tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgag ACTTGAGTACGT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagCctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAacttgagtacgtAGATCGAGACCCGACGC chr4:150911476-Reference-C;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative T tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgag GAGCTCGTGGTT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAgagctcgtggttAGATCGAGACCCGACGC chr4:150911476-Alternative-T;Patient-85 chr4:150911476-CA DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 -0.61 DCLK2 87949 Alternative T tggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgag CACATAATGCCT CGACGCGGTCTCTCTCTtggatacataaacagaatgtggtatgtatgtacagtgaaatattattcagTctttaagaagtaaattctgacacatattacaacatggatgaatcttgagAGAGGGAGACGGACGTCTCAATAAcacataatgcctAGATCGAGACCCGACGC chr4:150911476-Alternative-T;Patient-85 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative T tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GTTAACCTACGA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAgttaacctacgaAGATCGAGACCCGACGC chr4:151955688-Alternative-T;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Reference G tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GACGGCTAGCTA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAgacggctagctaAGATCGAGACCCGACGC chr4:151955688-Reference-G;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative T tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GGAAGACTATCA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAggaagactatcaAGATCGAGACCCGACGC chr4:151955688-Alternative-T;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Variant A tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACACGGTATAAG CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAacacggtataagAGATCGAGACCCGACGC chr4:151955688-Variant-A;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative T tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc AAGTTCCGATGA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAaagttccgatgaAGATCGAGACCCGACGC chr4:151955688-Alternative-T;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Variant A tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GGTGTTCGCAGT CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAggtgttcgcagtAGATCGAGACCCGACGC chr4:151955688-Variant-A;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Variant A tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACGGCATCCAAG CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAacggcatccaagAGATCGAGACCCGACGC chr4:151955688-Variant-A;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative T tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GAGATAGCAACT CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAgagatagcaactAGATCGAGACCCGACGC chr4:151955688-Alternative-T;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative T tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACCGTCGCTGAA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcTcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAaccgtcgctgaaAGATCGAGACCCGACGC chr4:151955688-Alternative-T;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Reference G tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACGAGTCGAATT CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAacgagtcgaattAGATCGAGACCCGACGC chr4:151955688-Reference-G;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Reference G tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc GCATTCCTCGAC CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAgcattcctcgacAGATCGAGACCCGACGC chr4:151955688-Reference-G;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Variant A tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc CTATACCGCAGA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAActataccgcagaAGATCGAGACCCGACGC chr4:151955688-Variant-A;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Reference G tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACTGGTTACGAC CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAactggttacgacAGATCGAGACCCGACGC chr4:151955688-Reference-G;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Variant A tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc ACGTACCGTCGA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcActtgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAacgtaccgtcgaAGATCGAGACCCGACGC chr4:151955688-Variant-A;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative C tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc AGGCAGTATCCA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAaggcagtatccaAGATCGAGACCCGACGC chr4:151955688-Alternative-C;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative C tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc CGAGGTAAGGCA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAcgaggtaaggcaAGATCGAGACCCGACGC chr4:151955688-Alternative-C;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative C tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc CAGATAGCCGTC CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAcagatagccgtcAGATCGAGACCCGACGC chr4:151955688-Alternative-C;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative C tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc CACGTCGTGACA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAcacgtcgtgacaAGATCGAGACCCGACGC chr4:151955688-Alternative-C;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Alternative C tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc AATGTGGAGCAT CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcCcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAaatgtggagcatAGATCGAGACCCGACGC chr4:151955688-Alternative-C;Patient-59 chr4:151955688-GA DeNovo Patient-59 intergenic 3.2e-05 0.000513 0.06 3.67 0.24 RPS3A 65036 Reference G tggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgc CATAACTCACGA CGACGCGGTCTCTCTCTtggcgcatgcctgtagtcccagctactcgagaggctgaggcaggagaatcGcttgaacccgggaggcggagtttgcagtgagctaaaatcgtgccactgcAGAGGGAGACGGACGTCTCAATAAcataactcacgaAGATCGAGACCCGACGC chr4:151955688-Reference-G;Patient-59 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative A caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GAATATACGCCT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgaatatacgcctAGATCGAGACCCGACGC chr4:153474043-Alternative-A;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Variant T caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg ACGATTAGCGGC CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAacgattagcggcAGATCGAGACCCGACGC chr4:153474043-Variant-T;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Variant T caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg CACGCTATAGCA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAcacgctatagcaAGATCGAGACCCGACGC chr4:153474043-Variant-T;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative A caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GTCAGTGCAACC CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgtcagtgcaaccAGATCGAGACCCGACGC chr4:153474043-Alternative-A;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Reference C caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg AGGCTAATCGAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAaggctaatcgaaAGATCGAGACCCGACGC chr4:153474043-Reference-C;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative A caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GCAAGCGTCCTA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgcaagcgtcctaAGATCGAGACCCGACGC chr4:153474043-Alternative-A;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative A caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg ACGACGGCTCAT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAacgacggctcatAGATCGAGACCCGACGC chr4:153474043-Alternative-A;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Reference C caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GATAGAACGTGT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgatagaacgtgtAGATCGAGACCCGACGC chr4:153474043-Reference-C;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative A caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GGTACTTACGGC CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaAggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAggtacttacggcAGATCGAGACCCGACGC chr4:153474043-Alternative-A;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Reference C caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg CGCCTCGACTAT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAcgcctcgactatAGATCGAGACCCGACGC chr4:153474043-Reference-C;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Variant T caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg ATATAGCCGCAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAatatagccgcaaAGATCGAGACCCGACGC chr4:153474043-Variant-T;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Reference C caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg CATTCAACCGGC CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAcattcaaccggcAGATCGAGACCCGACGC chr4:153474043-Reference-C;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative G caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg CGACCATAGCAT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAcgaccatagcatAGATCGAGACCCGACGC chr4:153474043-Alternative-G;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative G caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GGAGAATATCCT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAggagaatatcctAGATCGAGACCCGACGC chr4:153474043-Alternative-G;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative G caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg CGGTGTATGTAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAcggtgtatgtaaAGATCGAGACCCGACGC chr4:153474043-Alternative-G;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Reference C caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GAATGGCATCAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaCggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgaatggcatcaaAGATCGAGACCCGACGC chr4:153474043-Reference-C;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative G caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg AGGCGGAGATGT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAaggcggagatgtAGATCGAGACCCGACGC chr4:153474043-Alternative-G;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Alternative G caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GGATAGCCATAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaGggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAggatagccataaAGATCGAGACCCGACGC chr4:153474043-Alternative-G;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Variant T caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GATCGTTAGCAA CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgatcgttagcaaAGATCGAGACCCGACGC chr4:153474043-Variant-T;Patient-35 chr4:153474043-CT DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.44 -0.47 FBXW7 17649 Variant T caacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggagg GTAAGCGAACTT CGACGCGGTCTCTCTCTcaacatggcaaaaccccatttctacaaaaaatacaaaacttagctgggcaTggtagtgcatgcctgtagtcccaactgctcagagggctgaggtgggaggAGAGGGAGACGGACGTCTCAATAAgtaagcgaacttAGATCGAGACCCGACGC chr4:153474043-Variant-T;Patient-35 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Variant C atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttg GTGTTCCACGCT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAgtgttccacgctAGATCGAGACCCGACGC chr4:154692139-Variant-C;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Variant C atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttg GATGATCCTACA CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAgatgatcctacaAGATCGAGACCCGACGC chr4:154692139-Variant-C;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Variant C atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ATCGGTTATCAG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAatcggttatcagAGATCGAGACCCGACGC chr4:154692139-Variant-C;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Variant C atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AGCGTGTAGTGG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAagcgtgtagtggAGATCGAGACCCGACGC chr4:154692139-Variant-C;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Variant C atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ACATGCCAATGA CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttCttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAacatgccaatgaAGATCGAGACCCGACGC chr4:154692139-Variant-C;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative A atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttg GACATGAGTAGT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAgacatgagtagtAGATCGAGACCCGACGC chr4:154692139-Alternative-A;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative A atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttg CGAAGCTACATC CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAcgaagctacatcAGATCGAGACCCGACGC chr4:154692139-Alternative-A;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative A atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttg CGACCAAGAACG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAcgaccaagaacgAGATCGAGACCCGACGC chr4:154692139-Alternative-A;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative A atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AAGTAGTACGCG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAaagtagtacgcgAGATCGAGACCCGACGC chr4:154692139-Alternative-A;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative A atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttg CAATAAGCACGA CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttAttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAcaataagcacgaAGATCGAGACCCGACGC chr4:154692139-Alternative-A;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Reference T atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ATAGTGAGGACG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAatagtgaggacgAGATCGAGACCCGACGC chr4:154692139-Reference-T;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Reference T atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttg GAGTGCTACAAC CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAgagtgctacaacAGATCGAGACCCGACGC chr4:154692139-Reference-T;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Reference T atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AGTTGTAACCGT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAagttgtaaccgtAGATCGAGACCCGACGC chr4:154692139-Reference-T;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Reference T atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttg GTACTTGCCTAT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAgtacttgcctatAGATCGAGACCCGACGC chr4:154692139-Reference-T;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Reference T atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AGTAAGCAGTGT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttTttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAagtaagcagtgtAGATCGAGACCCGACGC chr4:154692139-Reference-T;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative G atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ATAACGAAGTCG CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAataacgaagtcgAGATCGAGACCCGACGC chr4:154692139-Alternative-G;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative G atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ACTATCCTACGC CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAactatcctacgcAGATCGAGACCCGACGC chr4:154692139-Alternative-G;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative G atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttg ACGCGGAGTTGT CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAacgcggagttgtAGATCGAGACCCGACGC chr4:154692139-Alternative-G;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative G atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AAGGACTTACGA CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAaaggacttacgaAGATCGAGACCCGACGC chr4:154692139-Alternative-G;Patient-30 chr4:154692139-TC Inherited Patient-30 intergenic 0.000602 0.00103 NA NA NA TLR2 86697 Alternative G atttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttg AGCGTGCGTATC CGACGCGGTCTCTCTCTatttggtgtgaggtaggggtccaagttcattttagtttctttctttctttGttttttttttttccctcatgtggctatccagttgtcctggcaccatttgAGAGGGAGACGGACGTCTCAATAAagcgtgcgtatcAGATCGAGACCCGACGC chr4:154692139-Alternative-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative T ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta CAGACTTACGGC CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAcagacttacggcAGATCGAGACCCGACGC chr4:154699805-Alternative-T;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative T ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GTTGGCTTACGG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgttggcttacggAGATCGAGACCCGACGC chr4:154699805-Alternative-T;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative T ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta AATCGGACGCGT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAaatcggacgcgtAGATCGAGACCCGACGC chr4:154699805-Alternative-T;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative T ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GATCGCGTACGA CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgatcgcgtacgaAGATCGAGACCCGACGC chr4:154699805-Alternative-T;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative T ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta AAGAACGAGACA CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttTtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAaagaacgagacaAGATCGAGACCCGACGC chr4:154699805-Alternative-T;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Reference G ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GTCGTAACGTCG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgtcgtaacgtcgAGATCGAGACCCGACGC chr4:154699805-Reference-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Reference G ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GTGACGTTGCAC CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgtgacgttgcacAGATCGAGACCCGACGC chr4:154699805-Reference-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Reference G ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta AACTACGATTCG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAaactacgattcgAGATCGAGACCCGACGC chr4:154699805-Reference-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Reference G ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta CGAGAATGGTCG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAcgagaatggtcgAGATCGAGACCCGACGC chr4:154699805-Reference-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Reference G ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GACATGACGACT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttGtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgacatgacgactAGATCGAGACCCGACGC chr4:154699805-Reference-G;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative C ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta CTACGCATTATC CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAActacgcattatcAGATCGAGACCCGACGC chr4:154699805-Alternative-C;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative C ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GATATTCTCGCT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgatattctcgctAGATCGAGACCCGACGC chr4:154699805-Alternative-C;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative C ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta AGAGCTCGCAAT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAagagctcgcaatAGATCGAGACCCGACGC chr4:154699805-Alternative-C;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative C ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta ACGACTCCTATC CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAacgactcctatcAGATCGAGACCCGACGC chr4:154699805-Alternative-C;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Alternative C ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GATGCACCGTCT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttCtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgatgcaccgtctAGATCGAGACCCGACGC chr4:154699805-Alternative-C;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Variant A ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GGTTGAGCTAAT CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAggttgagctaatAGATCGAGACCCGACGC chr4:154699805-Variant-A;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Variant A ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta CTCGCTACGAAG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAActcgctacgaagAGATCGAGACCCGACGC chr4:154699805-Variant-A;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Variant A ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GTTATTACCGCG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAgttattaccgcgAGATCGAGACCCGACGC chr4:154699805-Variant-A;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Variant A ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta GGTTGGTTCACG CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAggttggttcacgAGATCGAGACCCGACGC chr4:154699805-Variant-A;Patient-30 chr4:154699805-GA Inherited Patient-30 intergenic 0.000541 0.000512821 NA NA NA TLR2 94363 Variant A ttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaacta CGAGAACGGTAC CGACGCGGTCTCTCTCTttgaacttcccaacctccagaaccatgaggcacataaatttctattgtttAtaaattacccagtctgtgatattttgctacagcagcagaaaacaaactaAGAGGGAGACGGACGTCTCAATAAcgagaacggtacAGATCGAGACCCGACGC chr4:154699805-Variant-A;Patient-30 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Reference T atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CTGCGTAGACCT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAActgcgtagacctAGATCGAGACCCGACGC chr4:154706322-Reference-T;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative G atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca AGCCGAACGGAT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAagccgaacggatAGATCGAGACCCGACGC chr4:154706322-Alternative-G;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Reference T atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GCGAGATAGTCG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAgcgagatagtcgAGATCGAGACCCGACGC chr4:154706322-Reference-T;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative G atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CTGGTAGCAGCT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAActggtagcagctAGATCGAGACCCGACGC chr4:154706322-Alternative-G;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative A atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CTGAGTGGTAGG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAActgagtggtaggAGATCGAGACCCGACGC chr4:154706322-Alternative-A;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative G atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca AGCGCATAGACG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAagcgcatagacgAGATCGAGACCCGACGC chr4:154706322-Alternative-G;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative A atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca ACACCGTAGTCG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAacaccgtagtcgAGATCGAGACCCGACGC chr4:154706322-Alternative-A;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative A atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GAGATACTCACA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAgagatactcacaAGATCGAGACCCGACGC chr4:154706322-Alternative-A;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative G atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CGCAACTAGAAG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcgcaactagaagAGATCGAGACCCGACGC chr4:154706322-Alternative-G;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative G atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GGAGTTCGAACG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttGtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAggagttcgaacgAGATCGAGACCCGACGC chr4:154706322-Alternative-G;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Variant C atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GTAGGTACCGGT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAgtaggtaccggtAGATCGAGACCCGACGC chr4:154706322-Variant-C;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Variant C atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CGTAGGATTCTA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcgtaggattctaAGATCGAGACCCGACGC chr4:154706322-Variant-C;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative A atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GTCATGGATAGA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAgtcatggatagaAGATCGAGACCCGACGC chr4:154706322-Alternative-A;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Variant C atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CAACCTTCGGCA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcaaccttcggcaAGATCGAGACCCGACGC chr4:154706322-Variant-C;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Alternative A atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CATATGGTCGAT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttAtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcatatggtcgatAGATCGAGACCCGACGC chr4:154706322-Alternative-A;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Variant C atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca AGTGATACACGA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAagtgatacacgaAGATCGAGACCCGACGC chr4:154706322-Variant-C;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Variant C atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CGGTCGTACGAA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttCtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcggtcgtacgaaAGATCGAGACCCGACGC chr4:154706322-Variant-C;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Reference T atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca CATAGACGGACG CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAcatagacggacgAGATCGAGACCCGACGC chr4:154706322-Reference-T;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Reference T atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca GAGATCGAAGAT CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAgagatcgaagatAGATCGAGACCCGACGC chr4:154706322-Reference-T;Patient-55 chr4:154706322-TC DeNovo Patient-55 intronic SFRP2 NA 4.95e-05 -0.39 0.19 -3.24 SFRP2 3905 Reference T atctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcataca AATCGCACATCA CGACGCGGTCTCTCTCTatctatcatgtatcttgctaaagtaaatttctaagctttttttttcctttTtaaaactattttcgaaactgtggcaaatgtgtctagacttagtcatacaAGAGGGAGACGGACGTCTCAATAAaatcgcacatcaAGATCGAGACCCGACGC chr4:154706322-Reference-T;Patient-55 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Variant G ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GGCTGTTAACTA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAggctgttaactaAGATCGAGACCCGACGC chr4:155327963-Variant-G;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Variant G ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GCCACTTGGTAT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAgccacttggtatAGATCGAGACCCGACGC chr4:155327963-Variant-G;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Variant G ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CTCGTCACGTCA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAActcgtcacgtcaAGATCGAGACCCGACGC chr4:155327963-Variant-G;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative T ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CAAGAGAGCTGA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcaagagagctgaAGATCGAGACCCGACGC chr4:155327963-Alternative-T;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative T ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac ATTCGTGCGTTA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAattcgtgcgttaAGATCGAGACCCGACGC chr4:155327963-Alternative-T;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative T ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CGGAGCGATAAG CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcggagcgataagAGATCGAGACCCGACGC chr4:155327963-Alternative-T;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Variant G ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GCATCGGTGGAA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAgcatcggtggaaAGATCGAGACCCGACGC chr4:155327963-Variant-G;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Reference A ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GTAGAAGCGAAT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAgtagaagcgaatAGATCGAGACCCGACGC chr4:155327963-Reference-A;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Variant G ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac ACTCTATCCTTC CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcGtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAactctatccttcAGATCGAGACCCGACGC chr4:155327963-Variant-G;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative T ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac AAGTACCTGCGA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAaagtacctgcgaAGATCGAGACCCGACGC chr4:155327963-Alternative-T;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Reference A ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac AATCGGAGTTCT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAaatcggagttctAGATCGAGACCCGACGC chr4:155327963-Reference-A;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative T ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CGCTTAACTGCG CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcTtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcgcttaactgcgAGATCGAGACCCGACGC chr4:155327963-Alternative-T;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative C ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CGTGAACGCCTT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcgtgaacgccttAGATCGAGACCCGACGC chr4:155327963-Alternative-C;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Reference A ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GGCTTGGTTGCA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAggcttggttgcaAGATCGAGACCCGACGC chr4:155327963-Reference-A;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Reference A ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GAGTAGTATCAG CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAgagtagtatcagAGATCGAGACCCGACGC chr4:155327963-Reference-A;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative C ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac GAATTGAGACAC CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAgaattgagacacAGATCGAGACCCGACGC chr4:155327963-Alternative-C;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Reference A ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CTATGCTCCATA CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcAtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAActatgctccataAGATCGAGACCCGACGC chr4:155327963-Reference-A;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative C ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac ATCGATTACCGG CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAatcgattaccggAGATCGAGACCCGACGC chr4:155327963-Alternative-C;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative C ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CGTCTACGGTCT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcgtctacggtctAGATCGAGACCCGACGC chr4:155327963-Alternative-C;Patient-82 chr4:155327963-AG DeNovo Patient-82 intronic DCHS2 NA 4.95e-05 0.04 3.29 -1.37 DCHS2 84966 Alternative C ctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagac CGGACCACAAGT CGACGCGGTCTCTCTCTctttcttcttttgctattgtgttggacaacattgtcaatttcccaatggcCtctgactgtatatcccacagtttcttccaacaaatcttgggactgagacAGAGGGAGACGGACGTCTCAATAAcggaccacaagtAGATCGAGACCCGACGC chr4:155327963-Alternative-C;Patient-82 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Reference A atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AGAACGTACAGT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAagaacgtacagtAGATCGAGACCCGACGC chr4:156165564-Reference-A;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative C atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AACTTCGCCATT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaacttcgccattAGATCGAGACCCGACGC chr4:156165564-Alternative-C;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Reference A atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AGCGTCGATAAG CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAagcgtcgataagAGATCGAGACCCGACGC chr4:156165564-Reference-A;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative C atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa CATGTTCGGCGT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAcatgttcggcgtAGATCGAGACCCGACGC chr4:156165564-Alternative-C;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Variant G atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa ACCTAAGTCGAT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAacctaagtcgatAGATCGAGACCCGACGC chr4:156165564-Variant-G;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative C atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GGACATTCTTGA CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAggacattcttgaAGATCGAGACCCGACGC chr4:156165564-Alternative-C;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Variant G atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa CAGTAACCTAAC CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAcagtaacctaacAGATCGAGACCCGACGC chr4:156165564-Variant-G;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative T atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa CTCTAGCGCCTA CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAActctagcgcctaAGATCGAGACCCGACGC chr4:156165564-Alternative-T;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative C atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AGGAGATCTCAT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaggagatctcatAGATCGAGACCCGACGC chr4:156165564-Alternative-C;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative C atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GTCGGAACAACG CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcCatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgtcggaacaacgAGATCGAGACCCGACGC chr4:156165564-Alternative-C;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative T atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GAGTAGTGTAGT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgagtagtgtagtAGATCGAGACCCGACGC chr4:156165564-Alternative-T;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Reference A atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AACACGTGAGCG CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaacacgtgagcgAGATCGAGACCCGACGC chr4:156165564-Reference-A;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Reference A atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GTTAATCGAACC CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgttaatcgaaccAGATCGAGACCCGACGC chr4:156165564-Reference-A;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Variant G atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AACTCAACAAGG CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaactcaacaaggAGATCGAGACCCGACGC chr4:156165564-Variant-G;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Variant G atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GAGATATCCTAC CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgagatatcctacAGATCGAGACCCGACGC chr4:156165564-Variant-G;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Variant G atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GCATGAATCCGG CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcGatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgcatgaatccggAGATCGAGACCCGACGC chr4:156165564-Variant-G;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative T atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa ACCACAACGCAA CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaccacaacgcaaAGATCGAGACCCGACGC chr4:156165564-Alternative-T;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Reference A atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa GTTCATTACCAC CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcAatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAgttcattaccacAGATCGAGACCCGACGC chr4:156165564-Reference-A;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative T atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa AAGCAACCGATA CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAAaagcaaccgataAGATCGAGACCCGACGC chr4:156165564-Alternative-T;Patient-4 chr4:156165564-AG DeNovo Patient-4 intergenic NA 0.000513 0.36 7.95 0.62 NPY2R 35782 Alternative T atgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaa CTCTGGCTTATT CGACGCGGTCTCTCTCTatgtatggttacttcataaataaccctaaatgcattagaatttaaaaatcTatgcttagattcttgagatagccatgaatcacagagaggtctacagtaaAGAGGGAGACGGACGTCTCAATAActctggcttattAGATCGAGACCCGACGC chr4:156165564-Alternative-T;Patient-4 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative A atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgta GCGTCTATATGA CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAgcgtctatatgaAGATCGAGACCCGACGC chr4:156578064-Alternative-A;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Reference C atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgta ACTTAAGGCCGG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAacttaaggccggAGATCGAGACCCGACGC chr4:156578064-Reference-C;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative A atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgta GGATGATTGGCG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAggatgattggcgAGATCGAGACCCGACGC chr4:156578064-Alternative-A;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative A atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgta GTCATTGGTGCG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAgtcattggtgcgAGATCGAGACCCGACGC chr4:156578064-Alternative-A;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Reference C atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgta CATCTGCGAGCT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcatctgcgagctAGATCGAGACCCGACGC chr4:156578064-Reference-C;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative T atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgta CTCTAATAACGC CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAActctaataacgcAGATCGAGACCCGACGC chr4:156578064-Alternative-T;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative A atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgta AGATGCTTGGCG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAagatgcttggcgAGATCGAGACCCGACGC chr4:156578064-Alternative-A;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative A atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgta CGAAGAATAAGG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagAccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcgaagaataaggAGATCGAGACCCGACGC chr4:156578064-Alternative-A;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Reference C atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgta CGGATGAACAAT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcggatgaacaatAGATCGAGACCCGACGC chr4:156578064-Reference-C;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Reference C atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgta CATCGTTCAAGA CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcatcgttcaagaAGATCGAGACCCGACGC chr4:156578064-Reference-C;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Reference C atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgta CACGCGTCAGTT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagCccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcacgcgtcagttAGATCGAGACCCGACGC chr4:156578064-Reference-C;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative T atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgta CGAGTATAGAGT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAcgagtatagagtAGATCGAGACCCGACGC chr4:156578064-Alternative-T;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Variant G atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgta ATCAAGCCTGAA CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAatcaagcctgaaAGATCGAGACCCGACGC chr4:156578064-Variant-G;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative T atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgta ATCACGGATCGG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAatcacggatcggAGATCGAGACCCGACGC chr4:156578064-Alternative-T;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Variant G atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgta GTATCCGCATAT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAgtatccgcatatAGATCGAGACCCGACGC chr4:156578064-Variant-G;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Variant G atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgta GCATCGATAAGG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAgcatcgataaggAGATCGAGACCCGACGC chr4:156578064-Variant-G;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Variant G atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgta GGAGATATGCCG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAggagatatgccgAGATCGAGACCCGACGC chr4:156578064-Variant-G;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative T atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgta AGATGAGATAGG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAagatgagataggAGATCGAGACCCGACGC chr4:156578064-Alternative-T;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Variant G atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgta AGAACGGTGTCG CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagGccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAagaacggtgtcgAGATCGAGACCCGACGC chr4:156578064-Variant-G;Patient-80 chr4:156578064-CG DeNovo Patient-80 intergenic NA 3.84e-05 -0.16 0.97 1.5 GUCY1A1 9797 Alternative T atcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgta AGCTTCTGTCAT CGACGCGGTCTCTCTCTatcaccataatgcaaatagtcttaactagtttgaaaaggatgttaatcagTccaacgctgagtactttttgtccatggcttctcattaaattctattgtaAGAGGGAGACGGACGTCTCAATAAagcttctgtcatAGATCGAGACCCGACGC chr4:156578064-Alternative-T;Patient-80 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Reference T tttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat ACAAGCGACTAA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAacaagcgactaaAGATCGAGACCCGACGC chr4:156715565-Reference-T;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Reference T tttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat GATCAAGCTCGA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAgatcaagctcgaAGATCGAGACCCGACGC chr4:156715565-Reference-T;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Reference T tttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AACGTCCTACGG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAaacgtcctacggAGATCGAGACCCGACGC chr4:156715565-Reference-T;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative A tttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat CTTGCTTCAGCG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAActtgcttcagcgAGATCGAGACCCGACGC chr4:156715565-Alternative-A;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative A tttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat ATACGTTAGCGT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAatacgttagcgtAGATCGAGACCCGACGC chr4:156715565-Alternative-A;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Variant C tttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat CGGTGATCCAAG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAcggtgatccaagAGATCGAGACCCGACGC chr4:156715565-Variant-C;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Variant C tttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat CGTGTTGATAGT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAcgtgttgatagtAGATCGAGACCCGACGC chr4:156715565-Variant-C;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Variant C tttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat GGAGTCGAATCG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAggagtcgaatcgAGATCGAGACCCGACGC chr4:156715565-Variant-C;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative A tttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AAGTAACAGTCG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAaagtaacagtcgAGATCGAGACCCGACGC chr4:156715565-Alternative-A;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Variant C tttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat ATCGGAACGTGG CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAatcggaacgtggAGATCGAGACCCGACGC chr4:156715565-Variant-C;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative A tttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AGGCGGAGTTCT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAaggcggagttctAGATCGAGACCCGACGC chr4:156715565-Alternative-A;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Variant C tttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AAGGTGATCACA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataCtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAaaggtgatcacaAGATCGAGACCCGACGC chr4:156715565-Variant-C;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative G tttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat GCAGTAACACGT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAgcagtaacacgtAGATCGAGACCCGACGC chr4:156715565-Alternative-G;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative A tttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AGTCGGAAGTTA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataAtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAagtcggaagttaAGATCGAGACCCGACGC chr4:156715565-Alternative-A;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Reference T tttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat GGAGTATACGAT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAggagtatacgatAGATCGAGACCCGACGC chr4:156715565-Reference-T;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Reference T tttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat ACTTCTCGACAT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataTtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAacttctcgacatAGATCGAGACCCGACGC chr4:156715565-Reference-T;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative G tttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AGCTCTGAACGC CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAagctctgaacgcAGATCGAGACCCGACGC chr4:156715565-Alternative-G;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative G tttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat CTTGGACGTGGT CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAActtggacgtggtAGATCGAGACCCGACGC chr4:156715565-Alternative-G;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative G tttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat AAGGCCGTGAGA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAAaaggccgtgagaAGATCGAGACCCGACGC chr4:156715565-Alternative-G;Patient-100 chr4:156715565-TC DeNovo Patient-100 intronic GUCY1B1 0.000541 0.000531 -0.13 1.15 -9.77 GUCY1B1 35438 Alternative G tttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgat CTATGAAGCGCA CGACGCGGTCTCTCTCTtttttagtaacagtcacctttcacatgtttatttattcactgaataaataGtcattggatatctaccatctgtaaatagctttaaaaatcaactattgatAGAGGGAGACGGACGTCTCAATAActatgaagcgcaAGATCGAGACCCGACGC chr4:156715565-Alternative-G;Patient-100 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative A aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaatttt GGCCGCTATCAT CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAggccgctatcatAGATCGAGACCCGACGC chr4:157825035-Alternative-A;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Variant G aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaatttt GTGATAATGCGT CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAgtgataatgcgtAGATCGAGACCCGACGC chr4:157825035-Variant-G;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative C aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaatttt CATCTCAATTCG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcatctcaattcgAGATCGAGACCCGACGC chr4:157825035-Alternative-C;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative A aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaatttt GCGATAGTACGG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAgcgatagtacggAGATCGAGACCCGACGC chr4:157825035-Alternative-A;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Variant G aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaatttt GGCGATCAAGTC CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAggcgatcaagtcAGATCGAGACCCGACGC chr4:157825035-Variant-G;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative C aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaatttt AGCAACGTAGAT CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAagcaacgtagatAGATCGAGACCCGACGC chr4:157825035-Alternative-C;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative C aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaatttt ATACGAATGTGG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAatacgaatgtggAGATCGAGACCCGACGC chr4:157825035-Alternative-C;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Variant G aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaatttt GTCGTACTAACA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAgtcgtactaacaAGATCGAGACCCGACGC chr4:157825035-Variant-G;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative A aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaatttt CAGCGGCATTCA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcagcggcattcaAGATCGAGACCCGACGC chr4:157825035-Alternative-A;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Reference T aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaatttt AGAGTCACACCG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAagagtcacaccgAGATCGAGACCCGACGC chr4:157825035-Reference-T;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative C aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaatttt ATCGTAACGCTA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAatcgtaacgctaAGATCGAGACCCGACGC chr4:157825035-Alternative-C;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative C aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaatttt CAGCTTACGATA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacCctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcagcttacgataAGATCGAGACCCGACGC chr4:157825035-Alternative-C;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Variant G aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaatttt AGTAAGCGCGCT CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAagtaagcgcgctAGATCGAGACCCGACGC chr4:157825035-Variant-G;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Variant G aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaatttt CATCTCGATAGA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacGctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcatctcgatagaAGATCGAGACCCGACGC chr4:157825035-Variant-G;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Reference T aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaatttt AAGCAGTGACTA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAaagcagtgactaAGATCGAGACCCGACGC chr4:157825035-Reference-T;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative A aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaatttt CGGATTGTCTGG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcggattgtctggAGATCGAGACCCGACGC chr4:157825035-Alternative-A;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Reference T aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaatttt GTAAGTTCGTAC CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAgtaagttcgtacAGATCGAGACCCGACGC chr4:157825035-Reference-T;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Alternative A aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaatttt GGATACGTGAGA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacActagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAggatacgtgagaAGATCGAGACCCGACGC chr4:157825035-Alternative-A;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Reference T aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaatttt CGACGAATCGAG CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAcgacgaatcgagAGATCGAGACCCGACGC chr4:157825035-Reference-T;Patient-36 chr4:157825035-TG DeNovo Patient-36 intronic PDGFC NA 4.95e-05 -0.08 1.59 0.35 PDGFC 67510 Reference T aagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaatttt ACTGTCGAGCGA CGACGCGGTCTCTCTCTaagacaaaccattacctatagtttggcaggaagaggaaaggaagcaagacTctagacccaaagatcatgatagagctgtactggcctttaggccaattttAGAGGGAGACGGACGTCTCAATAAactgtcgagcgaAGATCGAGACCCGACGC chr4:157825035-Reference-T;Patient-36 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative G tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GTTGACAGAGAA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgttgacagagaaAGATCGAGACCCGACGC chr4:157928269-Alternative-G;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Variant T tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GACGATTCTGCG CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgacgattctgcgAGATCGAGACCCGACGC chr4:157928269-Variant-T;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative G tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc AGAACGCTCTAT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAagaacgctctatAGATCGAGACCCGACGC chr4:157928269-Alternative-G;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Reference C tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GATTCGTTCGTT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgattcgttcgttAGATCGAGACCCGACGC chr4:157928269-Reference-C;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative A tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc ATATGTGACCGC CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAatatgtgaccgcAGATCGAGACCCGACGC chr4:157928269-Alternative-A;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative G tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CGTGACTTCCTA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAcgtgacttcctaAGATCGAGACCCGACGC chr4:157928269-Alternative-G;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Variant T tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CATATAGTCGAC CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAcatatagtcgacAGATCGAGACCCGACGC chr4:157928269-Variant-T;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Reference C tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GCGGTTCGTACT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgcggttcgtactAGATCGAGACCCGACGC chr4:157928269-Reference-C;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative A tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GTGTCTCGGCTT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgtgtctcggcttAGATCGAGACCCGACGC chr4:157928269-Alternative-A;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative G tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CGCGGAATGACT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAcgcggaatgactAGATCGAGACCCGACGC chr4:157928269-Alternative-G;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Variant T tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc ACCTGTATGGAG CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAacctgtatggagAGATCGAGACCCGACGC chr4:157928269-Variant-T;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative A tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc AAGGTGAATGCA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAaaggtgaatgcaAGATCGAGACCCGACGC chr4:157928269-Alternative-A;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Reference C tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GATGACACGGAA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgatgacacggaaAGATCGAGACCCGACGC chr4:157928269-Reference-C;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Reference C tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc ATTGTCAGCCGC CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAattgtcagccgcAGATCGAGACCCGACGC chr4:157928269-Reference-C;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative A tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CATCTCCGGAGT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAcatctccggagtAGATCGAGACCCGACGC chr4:157928269-Alternative-A;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Reference C tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc AGGCCGAGGATT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagCgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAaggccgaggattAGATCGAGACCCGACGC chr4:157928269-Reference-C;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative G tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc GCAACGGATCGA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagGgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAgcaacggatcgaAGATCGAGACCCGACGC chr4:157928269-Alternative-G;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Variant T tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CTATACCTGAGA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAActatacctgagaAGATCGAGACCCGACGC chr4:157928269-Variant-T;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Variant T tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CATATGCGACAT CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagTgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAAcatatgcgacatAGATCGAGACCCGACGC chr4:157928269-Variant-T;Patient-101 chr4:157928269-CT DeNovo Patient-101 intergenic 3.2e-05 0.000513 -0.42 0.16 -0.3 PDGFC 35722 Alternative A tgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtacc CTGTCGTGCGAA CGACGCGGTCTCTCTCTtgcaatggtgcaatctcggctcacctcaaccttcgcctcccaggtttaagAgattctcctgcctcagcctcctgagtagctgggattacaagcatgtaccAGAGGGAGACGGACGTCTCAATAActgtcgtgcgaaAGATCGAGACCCGACGC chr4:157928269-Alternative-A;Patient-101 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Reference G attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt AGGCGTAATGAA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAaggcgtaatgaaAGATCGAGACCCGACGC chr4:158091015-Reference-G;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Reference G attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GATGACTGCGCA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAgatgactgcgcaAGATCGAGACCCGACGC chr4:158091015-Reference-G;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Variant T attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CTATACGGACTA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAActatacggactaAGATCGAGACCCGACGC chr4:158091015-Variant-T;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Variant T attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CGTACGACGTGT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAcgtacgacgtgtAGATCGAGACCCGACGC chr4:158091015-Variant-T;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative A attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GGTAACAGCGAC CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAggtaacagcgacAGATCGAGACCCGACGC chr4:158091015-Alternative-A;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Variant T attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt ACTTAGGACCGT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAacttaggaccgtAGATCGAGACCCGACGC chr4:158091015-Variant-T;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Variant T attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt AACGAGTGAGAA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAaacgagtgagaaAGATCGAGACCCGACGC chr4:158091015-Variant-T;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative A attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CTCTAACTCGCT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAActctaactcgctAGATCGAGACCCGACGC chr4:158091015-Alternative-A;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Variant T attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CTACCAGACGCA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgTgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAActaccagacgcaAGATCGAGACCCGACGC chr4:158091015-Variant-T;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative A attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GGTTACGTTCTT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAggttacgttcttAGATCGAGACCCGACGC chr4:158091015-Alternative-A;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative A attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt ATACGAGCGAAT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAatacgagcgaatAGATCGAGACCCGACGC chr4:158091015-Alternative-A;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative A attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GGAACGTTGTGG CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgAgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAggaacgttgtggAGATCGAGACCCGACGC chr4:158091015-Alternative-A;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative C attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GTAGTCTACGAT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAgtagtctacgatAGATCGAGACCCGACGC chr4:158091015-Alternative-C;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Reference G attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GTTAAGTGCGAA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAgttaagtgcgaaAGATCGAGACCCGACGC chr4:158091015-Reference-G;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative C attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CTGCTGCCGTTA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAActgctgccgttaAGATCGAGACCCGACGC chr4:158091015-Alternative-C;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative C attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt CAACCGTTACTT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAcaaccgttacttAGATCGAGACCCGACGC chr4:158091015-Alternative-C;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative C attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GACAACAGATCA CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAgacaacagatcaAGATCGAGACCCGACGC chr4:158091015-Alternative-C;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Reference G attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GGTGACTCGTGT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAggtgactcgtgtAGATCGAGACCCGACGC chr4:158091015-Reference-G;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Reference G attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt ACGCTCACTGGT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgGgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAacgctcactggtAGATCGAGACCCGACGC chr4:158091015-Reference-G;Patient-28 chr4:158091015-GT DeNovo Patient-28 intronic GLRB NA 4.95e-05 -0.44 0.14 -4.66 GRIA2 50804 Alternative C attcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccattt GATAGAGCTGAT CGACGCGGTCTCTCTCTattcctttgtattgtctgagcgtgattggttaagttcagccaacaagttgCgaatgcctatcactagtaaacgtttgattcatgacaattgtgaccatttAGAGGGAGACGGACGTCTCAATAAgatagagctgatAGATCGAGACCCGACGC chr4:158091015-Alternative-C;Patient-28 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Reference C tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GTAGTCGTGATT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAgtagtcgtgattAGATCGAGACCCGACGC chr4:159674329-Reference-C;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Reference C tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GGAGGAGTAGGT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAggaggagtaggtAGATCGAGACCCGACGC chr4:159674329-Reference-C;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Reference C tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ACGGCTCTGAGT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAacggctctgagtAGATCGAGACCCGACGC chr4:159674329-Reference-C;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Reference C tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcata CAAGCGATGCTA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAcaagcgatgctaAGATCGAGACCCGACGC chr4:159674329-Reference-C;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative A tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GGACGGAGATGA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAggacggagatgaAGATCGAGACCCGACGC chr4:159674329-Alternative-A;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Variant T tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcata AGTTAGGTGCGG CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAagttaggtgcggAGATCGAGACCCGACGC chr4:159674329-Variant-T;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Reference C tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ACGCGATAAGAT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctCtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAacgcgataagatAGATCGAGACCCGACGC chr4:159674329-Reference-C;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative A tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ATCCGGAGATGC CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAatccggagatgcAGATCGAGACCCGACGC chr4:159674329-Alternative-A;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative G tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GGCTTGGATTAA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAggcttggattaaAGATCGAGACCCGACGC chr4:159674329-Alternative-G;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Variant T tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ACTAACGTCCGG CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAactaacgtccggAGATCGAGACCCGACGC chr4:159674329-Variant-T;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative G tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcata CGATAATTGACC CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAcgataattgaccAGATCGAGACCCGACGC chr4:159674329-Alternative-G;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative A tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GTAACGACGAAG CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAgtaacgacgaagAGATCGAGACCCGACGC chr4:159674329-Alternative-A;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative G tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcata CAGACGCAACGA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAcagacgcaacgaAGATCGAGACCCGACGC chr4:159674329-Alternative-G;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative A tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GTTGTTCTCCGG CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAgttgttctccggAGATCGAGACCCGACGC chr4:159674329-Alternative-A;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Variant T tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GGCGATAGATGC CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAggcgatagatgcAGATCGAGACCCGACGC chr4:159674329-Variant-T;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative G tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ACAATTATCGGC CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAacaattatcggcAGATCGAGACCCGACGC chr4:159674329-Alternative-G;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative G tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GACGTCGCTGAT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctGtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAgacgtcgctgatAGATCGAGACCCGACGC chr4:159674329-Alternative-G;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Variant T tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GTTCCGGACATT CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAgttccggacattAGATCGAGACCCGACGC chr4:159674329-Variant-T;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Variant T tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcata ATCGATCCTGAA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctTtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAatcgatcctgaaAGATCGAGACCCGACGC chr4:159674329-Variant-T;Patient-24 chr4:159674329-CT DeNovo Patient-24 intergenic NA 0.000513 0.7 11.08 0.53 ETFDH 81051 Alternative A tggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcata GGTACACCATGA CGACGCGGTCTCTCTCTtggtatgccacacctaagaatgtcagagatgacatatgaatgaggcacctAtgatatgtgaattactacataatcagcttaaatacaaataatggtcataAGAGGGAGACGGACGTCTCAATAAggtacaccatgaAGATCGAGACCCGACGC chr4:159674329-Alternative-A;Patient-24 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative C agagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GGTAGCGCTCTA CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAggtagcgctctaAGATCGAGACCCGACGC chr4:16095783-Alternative-C;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative C agagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GTGGCTCGCAAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgtggctcgcaatAGATCGAGACCCGACGC chr4:16095783-Alternative-C;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative C agagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga AATCTAGCGGCG CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAaatctagcggcgAGATCGAGACCCGACGC chr4:16095783-Alternative-C;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative C agagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GTAAGTGAGCGA CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgtaagtgagcgaAGATCGAGACCCGACGC chr4:16095783-Alternative-C;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative C agagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga CGTATGCGTAAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagCgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAcgtatgcgtaatAGATCGAGACCCGACGC chr4:16095783-Alternative-C;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Reference A agagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga AGTAAGCGGTCG CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAagtaagcggtcgAGATCGAGACCCGACGC chr4:16095783-Reference-A;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Reference A agagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga ATTATCTTCGCG CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAattatcttcgcgAGATCGAGACCCGACGC chr4:16095783-Reference-A;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Reference A agagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga ACACGCATATAC CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAacacgcatatacAGATCGAGACCCGACGC chr4:16095783-Reference-A;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Variant G agagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga AGAAGTTGATGC CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAagaagttgatgcAGATCGAGACCCGACGC chr4:16095783-Variant-G;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Variant G agagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GTCGAATCGCAC CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgtcgaatcgcacAGATCGAGACCCGACGC chr4:16095783-Variant-G;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Variant G agagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga CGTGTGTTAACT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAcgtgtgttaactAGATCGAGACCCGACGC chr4:16095783-Variant-G;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Variant G agagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga AGGAACCTGGAC CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAaggaacctggacAGATCGAGACCCGACGC chr4:16095783-Variant-G;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative T agagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga ATCCTACGTAGA CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAatcctacgtagaAGATCGAGACCCGACGC chr4:16095783-Alternative-T;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Variant G agagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga CGGCTCTGTCAT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagGgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAcggctctgtcatAGATCGAGACCCGACGC chr4:16095783-Variant-G;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Reference A agagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GGTTCATAGGTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAggttcataggttAGATCGAGACCCGACGC chr4:16095783-Reference-A;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative T agagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GTTGACTTCGTT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgttgacttcgttAGATCGAGACCCGACGC chr4:16095783-Alternative-T;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative T agagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga ACGCCATCTAAG CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAacgccatctaagAGATCGAGACCCGACGC chr4:16095783-Alternative-T;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative T agagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga AGACGTATAGGT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAagacgtataggtAGATCGAGACCCGACGC chr4:16095783-Alternative-T;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Reference A agagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GCGTTATTCGGC CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagAgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgcgttattcggcAGATCGAGACCCGACGC chr4:16095783-Reference-A;Patient-57 chr4:16095783-AG DeNovo Patient-57 intergenic NA 0.000513 0.1 4.22 0 PROM1 10159 Alternative T agagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaaga GATAGTACTGCT CGACGCGGTCTCTCTCTagagagagagagagagagagagagagagagagagagagagagagagagagTgagagagagactccataagcttgggaaaaagtaaggaaagagaacaagaAGAGGGAGACGGACGTCTCAATAAgatagtactgctAGATCGAGACCCGACGC chr4:16095783-Alternative-T;Patient-57 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Variant C gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc ATTGTGATCGGT CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAattgtgatcggtAGATCGAGACCCGACGC chr4:1635914-Variant-C;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative A gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc CATTGTACGTGA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAcattgtacgtgaAGATCGAGACCCGACGC chr4:1635914-Alternative-A;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative A gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GCGGATGCTCTT CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgcggatgctcttAGATCGAGACCCGACGC chr4:1635914-Alternative-A;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Variant C gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc ATTCGTCGCGTC CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAattcgtcgcgtcAGATCGAGACCCGACGC chr4:1635914-Variant-C;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative A gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc AGGCTAGTACTA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAaggctagtactaAGATCGAGACCCGACGC chr4:1635914-Alternative-A;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Reference T gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GTTAGCAAGAAG CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgttagcaagaagAGATCGAGACCCGACGC chr4:1635914-Reference-T;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Reference T gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc AATGGCATTCCA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAaatggcattccaAGATCGAGACCCGACGC chr4:1635914-Reference-T;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative G gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GGTCGTCTAGCA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAggtcgtctagcaAGATCGAGACCCGACGC chr4:1635914-Alternative-G;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Reference T gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GCGCTAATGTGG CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgcgctaatgtggAGATCGAGACCCGACGC chr4:1635914-Reference-T;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Variant C gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc AATCAAGACCGA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAaatcaagaccgaAGATCGAGACCCGACGC chr4:1635914-Variant-C;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative A gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GTCGTGCGATAC CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgtcgtgcgatacAGATCGAGACCCGACGC chr4:1635914-Alternative-A;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative G gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc CTATCGCGGCTT CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAActatcgcggcttAGATCGAGACCCGACGC chr4:1635914-Alternative-G;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative A gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc CACGTTATCGTT CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccAcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAcacgttatcgttAGATCGAGACCCGACGC chr4:1635914-Alternative-A;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Reference T gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc CATAGGTGTAGA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAcataggtgtagaAGATCGAGACCCGACGC chr4:1635914-Reference-T;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative G gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GATACCAACGAA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgataccaacgaaAGATCGAGACCCGACGC chr4:1635914-Alternative-G;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Variant C gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc AGACCATCTGCA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAagaccatctgcaAGATCGAGACCCGACGC chr4:1635914-Variant-C;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Reference T gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc AACTACGAACGA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccTcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAaactacgaacgaAGATCGAGACCCGACGC chr4:1635914-Reference-T;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Variant C gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc GATACTACACCA CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccCcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAgatactacaccaAGATCGAGACCCGACGC chr4:1635914-Variant-C;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative G gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc CGTTGTGACAAG CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAcgttgtgacaagAGATCGAGACCCGACGC chr4:1635914-Alternative-G;Patient-22 chr4:1635914-TC Inherited Patient-22 intergenic 0.000287 0.00154 -0.14 1.06 -3.31 TACC3 87302 Alternative G gaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactccc ACACAGGTATGT CGACGCGGTCTCTCTCTgaaactggattggagcccacagtggactctgcctgcctgtgaccctgaccGcggggtgtggcaggaggtgtctaagctgcttcgtgcaaacaggactcccAGAGGGAGACGGACGTCTCAATAAacacaggtatgtAGATCGAGACCCGACGC chr4:1635914-Alternative-G;Patient-22 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative C ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GGTCGAGACAGT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAggtcgagacagtAGATCGAGACCCGACGC chr4:164190190-Alternative-C;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative C ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GGTCGAGGCTAT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAggtcgaggctatAGATCGAGACCCGACGC chr4:164190190-Alternative-C;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative C ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GTCTCGATCAAG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAgtctcgatcaagAGATCGAGACCCGACGC chr4:164190190-Alternative-C;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Reference G ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgttttttttttt ACCTTAATCCGA CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAaccttaatccgaAGATCGAGACCCGACGC chr4:164190190-Reference-G;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative C ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CGCAGAATCGAG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAcgcagaatcgagAGATCGAGACCCGACGC chr4:164190190-Alternative-C;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative T ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CTATGTTGCGGC CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAActatgttgcggcAGATCGAGACCCGACGC chr4:164190190-Alternative-T;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative T ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgttttttttttt AGGACGATACTA CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAaggacgatactaAGATCGAGACCCGACGC chr4:164190190-Alternative-T;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Reference G ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GGATGCGACCTT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAggatgcgaccttAGATCGAGACCCGACGC chr4:164190190-Reference-G;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Variant A ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgttttttttttt ATAGTTGCGACG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAatagttgcgacgAGATCGAGACCCGACGC chr4:164190190-Variant-A;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Reference G ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GACGGACTTATT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAgacggacttattAGATCGAGACCCGACGC chr4:164190190-Reference-G;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Reference G ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgttttttttttt ACCTTCGGACCT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAaccttcggacctAGATCGAGACCCGACGC chr4:164190190-Reference-G;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative T ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CTGTCGGTGTGA CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAActgtcggtgtgaAGATCGAGACCCGACGC chr4:164190190-Alternative-T;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Reference G ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CACATTGATGAG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctGttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAcacattgatgagAGATCGAGACCCGACGC chr4:164190190-Reference-G;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative T ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GAATGCGCTGAG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAgaatgcgctgagAGATCGAGACCCGACGC chr4:164190190-Alternative-T;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Variant A ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CTTATTGACCGT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAActtattgaccgtAGATCGAGACCCGACGC chr4:164190190-Variant-A;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Variant A ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CTTATCGGCGCT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAActtatcggcgctAGATCGAGACCCGACGC chr4:164190190-Variant-A;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative T ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgttttttttttt GATCCAACACGT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctTttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAgatccaacacgtAGATCGAGACCCGACGC chr4:164190190-Alternative-T;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Alternative C ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgttttttttttt ACAGGATAGACG CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctCttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAacaggatagacgAGATCGAGACCCGACGC chr4:164190190-Alternative-C;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Variant A ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgttttttttttt CGACTCGTTCGT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAcgactcgttcgtAGATCGAGACCCGACGC chr4:164190190-Variant-A;Patient-82 chr4:164190190-GA DeNovo Patient-82 intergenic NA 0.000513 0.22 6.16 2.08 NPY1R 63756 Variant A ctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgttttttttttt ACGCTATGCGCT CGACGCGGTCTCTCTCTctaaagtcaagaaacctgatttctcacaccagctctgctactaaacacctAttgttcagaggtagcaaattatctcttctttttctttgtttttttttttAGAGGGAGACGGACGTCTCAATAAacgctatgcgctAGATCGAGACCCGACGC chr4:164190190-Variant-A;Patient-82 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Reference G aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GTACAGACGAGA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgtacagacgagaAGATCGAGACCCGACGC chr4:166815567-Reference-G;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Reference G aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc ACTTCACGTGAA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAacttcacgtgaaAGATCGAGACCCGACGC chr4:166815567-Reference-G;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Reference G aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GGTGTAACAACA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAggtgtaacaacaAGATCGAGACCCGACGC chr4:166815567-Reference-G;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Reference G aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GCCGACTGGTAT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgccgactggtatAGATCGAGACCCGACGC chr4:166815567-Reference-G;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Reference G aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc AGCTGTCAAGAA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacGgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAagctgtcaagaaAGATCGAGACCCGACGC chr4:166815567-Reference-G;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative T aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GACCGACAGACT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgaccgacagactAGATCGAGACCCGACGC chr4:166815567-Alternative-T;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative T aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc ACTAGTAAGCGA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAactagtaagcgaAGATCGAGACCCGACGC chr4:166815567-Alternative-T;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative T aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GATACGAACGAG CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgatacgaacgagAGATCGAGACCCGACGC chr4:166815567-Alternative-T;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative T aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GACCATGTATCA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgaccatgtatcaAGATCGAGACCCGACGC chr4:166815567-Alternative-T;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative C aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc CAGATCCAACAC CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAcagatccaacacAGATCGAGACCCGACGC chr4:166815567-Alternative-C;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative T aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc AATAGCGAGTAC CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacTgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAaatagcgagtacAGATCGAGACCCGACGC chr4:166815567-Alternative-T;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative C aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc CTCGCGATTCAC CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAActcgcgattcacAGATCGAGACCCGACGC chr4:166815567-Alternative-C;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Variant A aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc CGGTACAAGGTT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAcggtacaaggttAGATCGAGACCCGACGC chr4:166815567-Variant-A;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Variant A aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc CTCACACGAAGG CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAActcacacgaaggAGATCGAGACCCGACGC chr4:166815567-Variant-A;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative C aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GACATAGGCCTA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgacataggcctaAGATCGAGACCCGACGC chr4:166815567-Alternative-C;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative C aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc ACGGTATCGCCT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAacggtatcgcctAGATCGAGACCCGACGC chr4:166815567-Alternative-C;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Variant A aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GATATGCGTGTT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgatatgcgtgttAGATCGAGACCCGACGC chr4:166815567-Variant-A;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Variant A aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc GCAGTGTGATAT CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAgcagtgtgatatAGATCGAGACCCGACGC chr4:166815567-Variant-A;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Variant A aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc ATCCGTAGTCAC CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacAgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAatccgtagtcacAGATCGAGACCCGACGC chr4:166815567-Variant-A;Patient-87 chr4:166815567-GA DeNovo Patient-87 intronic TLL1 0.000319 4.95e-05 -0.53 0.07 -0.85 TLL1 21156 Alternative C aagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttc ACAAGACATCGA CGACGCGGTCTCTCTCTaagaatgacagcagatttcttattgtaagcaatgcaaactggtacttaacCgagtaacatctttaaataatgaaagaaatgcactgtcaacttagagttcAGAGGGAGACGGACGTCTCAATAAacaagacatcgaAGATCGAGACCCGACGC chr4:166815567-Alternative-C;Patient-87 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Reference T cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GGATACCACGCT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAggataccacgctAGATCGAGACCCGACGC chr4:170533854-Reference-T;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Variant G cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac AGGCGGTATCAT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAaggcggtatcatAGATCGAGACCCGACGC chr4:170533854-Variant-G;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Variant G cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GACTACCATATC CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgactaccatatcAGATCGAGACCCGACGC chr4:170533854-Variant-G;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Variant G cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac ATAGGAGCGTCG CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAataggagcgtcgAGATCGAGACCCGACGC chr4:170533854-Variant-G;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative A cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GCGACTTAGTAT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgcgacttagtatAGATCGAGACCCGACGC chr4:170533854-Alternative-A;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Variant G cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac CAGACGGCAGAT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAcagacggcagatAGATCGAGACCCGACGC chr4:170533854-Variant-G;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Variant G cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GACATAGAGTGT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggGcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgacatagagtgtAGATCGAGACCCGACGC chr4:170533854-Variant-G;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Reference T cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac AACTCGGAGTGG CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAaactcggagtggAGATCGAGACCCGACGC chr4:170533854-Reference-T;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative C cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac CACTGTCGAACG CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAcactgtcgaacgAGATCGAGACCCGACGC chr4:170533854-Alternative-C;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Reference T cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GGTGTACATGTT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAggtgtacatgttAGATCGAGACCCGACGC chr4:170533854-Reference-T;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative C cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GAGACTGACTTA CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgagactgacttaAGATCGAGACCCGACGC chr4:170533854-Alternative-C;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative C cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GATAAGGTCGGC CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgataaggtcggcAGATCGAGACCCGACGC chr4:170533854-Alternative-C;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Reference T cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GTGTTGCATCGG CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgtgttgcatcggAGATCGAGACCCGACGC chr4:170533854-Reference-T;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Reference T cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac CAAGGTTACCAC CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggTcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAcaaggttaccacAGATCGAGACCCGACGC chr4:170533854-Reference-T;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative C cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac ACGTAGCGAACT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAacgtagcgaactAGATCGAGACCCGACGC chr4:170533854-Alternative-C;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative A cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac CTCATGTGATGA CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAActcatgtgatgaAGATCGAGACCCGACGC chr4:170533854-Alternative-A;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative A cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac ATCACGAATTGC CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAatcacgaattgcAGATCGAGACCCGACGC chr4:170533854-Alternative-A;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative A cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac ACTTAGCGTAGA CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAacttagcgtagaAGATCGAGACCCGACGC chr4:170533854-Alternative-A;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative A cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac ACGAGATGCAAG CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggAcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAacgagatgcaagAGATCGAGACCCGACGC chr4:170533854-Alternative-A;Patient-94 chr4:170533854-TG DeNovo Patient-94 intergenic NA 0.000958466 NA NA NA CLCN3 7817 Alternative C cagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggac GATCCGCCTAGT CGACGCGGTCTCTCTCTcagcggaggcggctgggaaggagcagtgaggctgggctagaaccgtagggCcgggcggggtgctgtgcgaaggggcgggcggggtgctgtgcgaagggacAGAGGGAGACGGACGTCTCAATAAgatccgcctagtAGATCGAGACCCGACGC chr4:170533854-Alternative-C;Patient-94 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative G aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CTCATTGCGGCA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAActcattgcggcaAGATCGAGACCCGACGC chr4:170677470-Alternative-G;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative G aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CAGTATACCACG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcagtataccacgAGATCGAGACCCGACGC chr4:170677470-Alternative-G;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative G aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata AACGATTCTGAC CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAaacgattctgacAGATCGAGACCCGACGC chr4:170677470-Alternative-G;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative G aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CATCTTAGAGCA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcatcttagagcaAGATCGAGACCCGACGC chr4:170677470-Alternative-G;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative G aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata GAGAGTCAAGAA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcGacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAgagagtcaagaaAGATCGAGACCCGACGC chr4:170677470-Alternative-G;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Reference C aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CGCGCATATAAT CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcgcgcatataatAGATCGAGACCCGACGC chr4:170677470-Reference-C;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Reference C aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata AGCAGACTAACA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAagcagactaacaAGATCGAGACCCGACGC chr4:170677470-Reference-C;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative T aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CGGCTAAGATAA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcggctaagataaAGATCGAGACCCGACGC chr4:170677470-Alternative-T;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Variant A aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CATTGTCGTGAA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcattgtcgtgaaAGATCGAGACCCGACGC chr4:170677470-Variant-A;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Reference C aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CTAATCCGGCGA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAActaatccggcgaAGATCGAGACCCGACGC chr4:170677470-Reference-C;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Variant A aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata GAGTAGTGTGAT CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAgagtagtgtgatAGATCGAGACCCGACGC chr4:170677470-Variant-A;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Reference C aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata GATCGTATCGCG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAgatcgtatcgcgAGATCGAGACCCGACGC chr4:170677470-Reference-C;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Variant A aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CATTGGATACAC CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcattggatacacAGATCGAGACCCGACGC chr4:170677470-Variant-A;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Reference C aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata GTTGAGTCGTCG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcCacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAgttgagtcgtcgAGATCGAGACCCGACGC chr4:170677470-Reference-C;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Variant A aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CGTAGCGAACAG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcgtagcgaacagAGATCGAGACCCGACGC chr4:170677470-Variant-A;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative T aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata ATACCACAGCGG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAataccacagcggAGATCGAGACCCGACGC chr4:170677470-Alternative-T;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative T aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CTACACACGTGG CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAActacacacgtggAGATCGAGACCCGACGC chr4:170677470-Alternative-T;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative T aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata AAGTACGAGTCA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAaagtacgagtcaAGATCGAGACCCGACGC chr4:170677470-Alternative-T;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Alternative T aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata CGATGCGGATGT CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcTacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAcgatgcggatgtAGATCGAGACCCGACGC chr4:170677470-Alternative-T;Patient-55 chr4:170677470-CA Inherited Patient-55 intronic HPF1 0.000191 0.000148 0.09 4.13 1.57 HPF1 1622 Variant A aactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaata GCGGATCTGCAA CGACGCGGTCTCTCTCTaactaggaagtggaagagaagggatttaaactcaggtttaaatctgggtcAacagcagatcctcaaccacttcactatgctgcttctccaacatcaaataAGAGGGAGACGGACGTCTCAATAAgcggatctgcaaAGATCGAGACCCGACGC chr4:170677470-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative T agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgatt ATTCCGGCGTCA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAattccggcgtcaAGATCGAGACCCGACGC chr4:171105651-Alternative-T;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Reference G agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgatt GATAGCTGATGA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAgatagctgatgaAGATCGAGACCCGACGC chr4:171105651-Reference-G;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Variant A agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgatt GATGAGTCCGTC CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAgatgagtccgtcAGATCGAGACCCGACGC chr4:171105651-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative T agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgatt AGACGTTGGTAA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAagacgttggtaaAGATCGAGACCCGACGC chr4:171105651-Alternative-T;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative T agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgatt CAGTAGTCCATA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAcagtagtccataAGATCGAGACCCGACGC chr4:171105651-Alternative-T;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative T agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgatt CATCACTGGCAA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAcatcactggcaaAGATCGAGACCCGACGC chr4:171105651-Alternative-T;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative T agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgatt ATAGGTAGAGCG CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctTtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAataggtagagcgAGATCGAGACCCGACGC chr4:171105651-Alternative-T;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Variant A agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgatt GACCTGTAACAG CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAgacctgtaacagAGATCGAGACCCGACGC chr4:171105651-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Variant A agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgatt CGTAATAGGCGG CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAcgtaataggcggAGATCGAGACCCGACGC chr4:171105651-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Variant A agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgatt AAGTACTACCGA CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaagtactaccgaAGATCGAGACCCGACGC chr4:171105651-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Reference G agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgatt GCGATAGATAGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAgcgatagatagtAGATCGAGACCCGACGC chr4:171105651-Reference-G;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative C agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgatt AATCGGTTGTGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaatcggttgtgtAGATCGAGACCCGACGC chr4:171105651-Alternative-C;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative C agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgatt AAGTGTCGCCAC CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaagtgtcgccacAGATCGAGACCCGACGC chr4:171105651-Alternative-C;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative C agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgatt AGGAGGTCGTGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaggaggtcgtgtAGATCGAGACCCGACGC chr4:171105651-Alternative-C;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Variant A agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgatt CGCGGTTCATGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctAtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAcgcggttcatgtAGATCGAGACCCGACGC chr4:171105651-Variant-A;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative C agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgatt AATGCGCGACAC CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaatgcgcgacacAGATCGAGACCCGACGC chr4:171105651-Alternative-C;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Alternative C agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgatt ATACCACCGAAT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctCtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAataccaccgaatAGATCGAGACCCGACGC chr4:171105651-Alternative-C;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Reference G agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgatt ATCTTACGCTGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAatcttacgctgtAGATCGAGACCCGACGC chr4:171105651-Reference-G;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Reference G agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgatt CTATATCGTCGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAActatatcgtcgtAGATCGAGACCCGACGC chr4:171105651-Reference-G;Patient-55 chr4:171105651-GA Inherited Patient-55 intergenic NA 0.000513 -0.24 0.53 -1.16 AADAT 94278 Reference G agatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgatt AACTTGGTTGGT CGACGCGGTCTCTCTCTagatgacagaatttctttcttttgaaagactgagttgtatttcattgtctGtctatctattacattttcttcatttattcatcagtttgagatcctgattAGAGGGAGACGGACGTCTCAATAAaacttggttggtAGATCGAGACCCGACGC chr4:171105651-Reference-G;Patient-55 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Reference G gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg CATTCGCTCCGA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAcattcgctccgaAGATCGAGACCCGACGC chr4:1723357-Reference-G;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative T gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GATCAGTTGACT CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgatcagttgactAGATCGAGACCCGACGC chr4:1723357-Alternative-T;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Reference G gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GTTATCGCCTAA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgttatcgcctaaAGATCGAGACCCGACGC chr4:1723357-Reference-G;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Reference G gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GTGCTACACGGT CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgtgctacacggtAGATCGAGACCCGACGC chr4:1723357-Reference-G;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative C gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg ATTGAGAGTACC CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAattgagagtaccAGATCGAGACCCGACGC chr4:1723357-Alternative-C;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative C gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GTACTGCGTATA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgtactgcgtataAGATCGAGACCCGACGC chr4:1723357-Alternative-C;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative C gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg CGTAGCGATTCG CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAcgtagcgattcgAGATCGAGACCCGACGC chr4:1723357-Alternative-C;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative T gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GTTAGAGCTAGG CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgttagagctaggAGATCGAGACCCGACGC chr4:1723357-Alternative-T;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative C gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg AAGGTGCCTCAT CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAaaggtgcctcatAGATCGAGACCCGACGC chr4:1723357-Alternative-C;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Reference G gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GCGTAGACTGAC CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgcgtagactgacAGATCGAGACCCGACGC chr4:1723357-Reference-G;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative T gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg ATAGAGCGATAC CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAatagagcgatacAGATCGAGACCCGACGC chr4:1723357-Alternative-T;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Reference G gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GACCGAACTCGT CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacGggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgaccgaactcgtAGATCGAGACCCGACGC chr4:1723357-Reference-G;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative T gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg AAGATTCTGCAC CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAaagattctgcacAGATCGAGACCCGACGC chr4:1723357-Alternative-T;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Variant A gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GGTCTTCAATGA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAggtcttcaatgaAGATCGAGACCCGACGC chr4:1723357-Variant-A;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative T gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg AACTATGGCCGG CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacTggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAaactatggccggAGATCGAGACCCGACGC chr4:1723357-Alternative-T;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Variant A gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg CTGAATGGTAGA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAActgaatggtagaAGATCGAGACCCGACGC chr4:1723357-Variant-A;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Variant A gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg GTATTGCGAATC CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAgtattgcgaatcAGATCGAGACCCGACGC chr4:1723357-Variant-A;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Variant A gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg ATACCGTCGCGA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAataccgtcgcgaAGATCGAGACCCGACGC chr4:1723357-Variant-A;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Variant A gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg CGCCACTACGTT CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacAggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAcgccactacgttAGATCGAGACCCGACGC chr4:1723357-Variant-A;Patient-87 chr4:1723357-GA Inherited Patient-87 5 prime UTR TACC3 3.2e-05 0.00016 0.68 10.91 -1.16 TACC3 139 Alternative C gcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctgggg CAGAGCGGTACA CGACGCGGTCTCTCTCTgcggacccctccttcctggcggcggcggcgcgggctcagagcccggcaacCggcgggcgggcaggtaggagagcggctacacggcgcggggaggctggggAGAGGGAGACGGACGTCTCAATAAcagagcggtacaAGATCGAGACCCGACGC chr4:1723357-Alternative-C;Patient-87 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative G taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgtta AACTTGTCTCGT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAaacttgtctcgtAGATCGAGACCCGACGC chr4:174272847-Alternative-G;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative G taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgtta ACGCTACATTGA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAacgctacattgaAGATCGAGACCCGACGC chr4:174272847-Alternative-G;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative G taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CGTGTAAGTTGT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAcgtgtaagttgtAGATCGAGACCCGACGC chr4:174272847-Alternative-G;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative G taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgtta AATGCGCGATAA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAaatgcgcgataaAGATCGAGACCCGACGC chr4:174272847-Alternative-G;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Reference T taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgtta ACCGAGAATCTT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAaccgagaatcttAGATCGAGACCCGACGC chr4:174272847-Reference-T;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Reference T taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CATTCGGTACTT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAcattcggtacttAGATCGAGACCCGACGC chr4:174272847-Reference-T;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Reference T taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GATGTGCCGACT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAgatgtgccgactAGATCGAGACCCGACGC chr4:174272847-Reference-T;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Reference T taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CGGTCCATAATT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAcggtccataattAGATCGAGACCCGACGC chr4:174272847-Reference-T;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Reference T taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CTTGCTAATTGC CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaTtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAActtgctaattgcAGATCGAGACCCGACGC chr4:174272847-Reference-T;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Variant A taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GTCCGAAGTCGT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAgtccgaagtcgtAGATCGAGACCCGACGC chr4:174272847-Variant-A;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Variant A taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GTTCCACTCTAA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAgttccactctaaAGATCGAGACCCGACGC chr4:174272847-Variant-A;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative G taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CTGCGTCTATAT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaGtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAActgcgtctatatAGATCGAGACCCGACGC chr4:174272847-Alternative-G;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Variant A taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GCGAACGATTAA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAgcgaacgattaaAGATCGAGACCCGACGC chr4:174272847-Variant-A;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Variant A taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CGGAACTATGTT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAcggaactatgttAGATCGAGACCCGACGC chr4:174272847-Variant-A;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Variant A taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgtta CATCGATTGCTT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaAtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAcatcgattgcttAGATCGAGACCCGACGC chr4:174272847-Variant-A;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative C taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GGTGTTGTAGAA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAggtgttgtagaaAGATCGAGACCCGACGC chr4:174272847-Alternative-C;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative C taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgtta ACTGTCTATCCA CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAactgtctatccaAGATCGAGACCCGACGC chr4:174272847-Alternative-C;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative C taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgtta ATCGTAAGCGAT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAatcgtaagcgatAGATCGAGACCCGACGC chr4:174272847-Alternative-C;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative C taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgtta GGTTATTCTCGT CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAggttattctcgtAGATCGAGACCCGACGC chr4:174272847-Alternative-C;Patient-54 chr4:174272847-TA DeNovo Patient-54 intergenic NA 0.000513 1.14 14.1 -0.71 HMGB2 17251 Alternative C taatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgtta AGAGCAACGTCG CGACGCGGTCTCTCTCTtaatgaataattgttagtataaaatatttcacaagatatagtaaaaattaCtcattatttatctttaaattcaaatttaactgggtttcccatattgttaAGAGGGAGACGGACGTCTCAATAAagagcaacgtcgAGATCGAGACCCGACGC chr4:174272847-Alternative-C;Patient-54 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative G ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GATCAAGCATCA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAgatcaagcatcaAGATCGAGACCCGACGC chr4:1751625-Alternative-G;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative G ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GGTTACCGATGC CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAggttaccgatgcAGATCGAGACCCGACGC chr4:1751625-Alternative-G;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative G ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GCCGTCATAGCT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAgccgtcatagctAGATCGAGACCCGACGC chr4:1751625-Alternative-G;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative G ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CTACGTAGCGTC CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAActacgtagcgtcAGATCGAGACCCGACGC chr4:1751625-Alternative-G;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative G ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CAACGACGTGCT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagGgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAcaacgacgtgctAGATCGAGACCCGACGC chr4:1751625-Alternative-G;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative A ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GGTTACCTCCGT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAggttacctccgtAGATCGAGACCCGACGC chr4:1751625-Alternative-A;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Reference T ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CTACGGCGGATT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAActacggcggattAGATCGAGACCCGACGC chr4:1751625-Reference-T;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative A ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CTGCGTTGGTAC CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAActgcgttggtacAGATCGAGACCCGACGC chr4:1751625-Alternative-A;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Reference T ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CATCTCTCACCG CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAcatctctcaccgAGATCGAGACCCGACGC chr4:1751625-Reference-T;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative A ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc CTCATGCGACGA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAActcatgcgacgaAGATCGAGACCCGACGC chr4:1751625-Alternative-A;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative A ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGCGCCGCAAT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagcgccgcaatAGATCGAGACCCGACGC chr4:1751625-Alternative-A;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Variant C ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGTACTGATGG CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagtactgatggAGATCGAGACCCGACGC chr4:1751625-Variant-C;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Alternative A ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GCAAGTATACAG CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagAgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAgcaagtatacagAGATCGAGACCCGACGC chr4:1751625-Alternative-A;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Reference T ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GCCTTCGCATCA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAgccttcgcatcaAGATCGAGACCCGACGC chr4:1751625-Reference-T;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Reference T ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc ACTATATACCGG CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAactatataccggAGATCGAGACCCGACGC chr4:1751625-Reference-T;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Reference T ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGACCGGACGA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagTgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagaccggacgaAGATCGAGACCCGACGC chr4:1751625-Reference-T;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Variant C ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGTTCGCAGAT CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagttcgcagatAGATCGAGACCCGACGC chr4:1751625-Variant-C;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Variant C ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGTAGCTCGAA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagtagctcgaaAGATCGAGACCCGACGC chr4:1751625-Variant-C;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Variant C ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc GACCTGGTACAG CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAgacctggtacagAGATCGAGACCCGACGC chr4:1751625-Variant-C;Patient-68 chr4:1751625-TC Inherited Patient-68 intergenic 6.4e-05 0.00205 -0.03 2.23 -0.57 FGFR3 43413 Variant C ctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccacc AAGCACCTAGAA CGACGCGGTCTCTCTCTctgccccagcccggttccaaacaccaggctgaggctgcacagtttgcaagCgtgtcaaatgaatgaaggaacaactgtgcaggctccaggaacccccaccAGAGGGAGACGGACGTCTCAATAAaagcacctagaaAGATCGAGACCCGACGC chr4:1751625-Variant-C;Patient-68 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Reference T ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCAAGCGTACAC CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcaagcgtacacAGATCGAGACCCGACGC chr4:175767983-Reference-T;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative C ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCAGGTACTTAT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcaggtacttatAGATCGAGACCCGACGC chr4:175767983-Alternative-C;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Reference T ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GTTGTTGCGATA CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgttgttgcgataAGATCGAGACCCGACGC chr4:175767983-Reference-T;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Reference T ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctct ATCGTGAGCGAA CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAatcgtgagcgaaAGATCGAGACCCGACGC chr4:175767983-Reference-T;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Reference T ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctct ATCTGGTCAAGT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAatctggtcaagtAGATCGAGACCCGACGC chr4:175767983-Reference-T;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Reference T ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCGCTAACTTAT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtTcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcgctaacttatAGATCGAGACCCGACGC chr4:175767983-Reference-T;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative C ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctct ATTGCTTCGTCT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAattgcttcgtctAGATCGAGACCCGACGC chr4:175767983-Alternative-C;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative C ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctct ATAAGTAGCCGA CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAataagtagccgaAGATCGAGACCCGACGC chr4:175767983-Alternative-C;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative C ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GTACCGCTGCAT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgtaccgctgcatAGATCGAGACCCGACGC chr4:175767983-Alternative-C;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative G ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GGTAGCCGCATA CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAggtagccgcataAGATCGAGACCCGACGC chr4:175767983-Alternative-G;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative G ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCGTTCTTAGTT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcgttcttagttAGATCGAGACCCGACGC chr4:175767983-Alternative-G;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative C ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GAGGTTCGACAG CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtCcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgaggttcgacagAGATCGAGACCCGACGC chr4:175767983-Alternative-C;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative G ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctct ACCAAGCAACGC CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAaccaagcaacgcAGATCGAGACCCGACGC chr4:175767983-Alternative-G;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative G ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCGATTGACGAG CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcgattgacgagAGATCGAGACCCGACGC chr4:175767983-Alternative-G;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Alternative G ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctct CACGTTGGCAGT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtGcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAcacgttggcagtAGATCGAGACCCGACGC chr4:175767983-Alternative-G;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Variant A ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCGCATAATAGT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcgcataatagtAGATCGAGACCCGACGC chr4:175767983-Variant-A;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Variant A ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GCGAATTGTACT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgcgaattgtactAGATCGAGACCCGACGC chr4:175767983-Variant-A;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Variant A ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctct AACGCGCGTGAT CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAaacgcgcgtgatAGATCGAGACCCGACGC chr4:175767983-Variant-A;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Variant A ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctct GTGACGACTTCG CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAgtgacgacttcgAGATCGAGACCCGACGC chr4:175767983-Variant-A;Patient-94 chr4:175767983-TA DeNovo Patient-94 intergenic NA 0.000512821 NA NA NA GLRA3 17517 Variant A ttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctct AACACGTCCATA CGACGCGGTCTCTCTCTttgttcagtgcccacttataaatgagaacatgtggtgtttggtgttctgtAcctgcatcagtttgctggggataatgacttccagctaatccatgtctctAGAGGGAGACGGACGTCTCAATAAaacacgtccataAGATCGAGACCCGACGC chr4:175767983-Variant-A;Patient-94 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative G tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactctt CAACGCGCTGTT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAcaacgcgctgttAGATCGAGACCCGACGC chr4:17803864-Alternative-G;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Variant C tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ACGTGTGGAGGT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAacgtgtggaggtAGATCGAGACCCGACGC chr4:17803864-Variant-C;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative A tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactctt AGCTTCTGTAGA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAagcttctgtagaAGATCGAGACCCGACGC chr4:17803864-Alternative-A;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative A tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactctt CGTCCAAGCCAA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAcgtccaagccaaAGATCGAGACCCGACGC chr4:17803864-Alternative-A;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative A tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactctt AACACGTCCGAC CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAaacacgtccgacAGATCGAGACCCGACGC chr4:17803864-Alternative-A;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative A tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactctt GCAATGGTAAGG CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAgcaatggtaaggAGATCGAGACCCGACGC chr4:17803864-Alternative-A;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative A tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ACCGCAGATACT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaAgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAaccgcagatactAGATCGAGACCCGACGC chr4:17803864-Alternative-A;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Reference T tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactctt AGATCCGTTAAC CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAagatccgttaacAGATCGAGACCCGACGC chr4:17803864-Reference-T;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Reference T tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactctt CGTCTTGGAATA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAcgtcttggaataAGATCGAGACCCGACGC chr4:17803864-Reference-T;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Reference T tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ACGAATGCACAC CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAacgaatgcacacAGATCGAGACCCGACGC chr4:17803864-Reference-T;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Reference T tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ATCGCGCGTCTA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAatcgcgcgtctaAGATCGAGACCCGACGC chr4:17803864-Reference-T;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Reference T tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactctt AGACGACTTCAT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaTgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAagacgacttcatAGATCGAGACCCGACGC chr4:17803864-Reference-T;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative G tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactctt AGTACGCCGCTA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAagtacgccgctaAGATCGAGACCCGACGC chr4:17803864-Alternative-G;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative G tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactctt CGTCCTTGCACA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAcgtccttgcacaAGATCGAGACCCGACGC chr4:17803864-Alternative-G;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative G tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ACGGTCAGGTCA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAacggtcaggtcaAGATCGAGACCCGACGC chr4:17803864-Alternative-G;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Alternative G tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactctt ACGAGAGTCCAT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaGgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAacgagagtccatAGATCGAGACCCGACGC chr4:17803864-Alternative-G;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Variant C tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactctt GTGCTTATTGAG CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAgtgcttattgagAGATCGAGACCCGACGC chr4:17803864-Variant-C;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Variant C tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactctt GCGAACTTCGCA CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAgcgaacttcgcaAGATCGAGACCCGACGC chr4:17803864-Variant-C;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Variant C tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactctt GGCAATACTACG CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAggcaatactacgAGATCGAGACCCGACGC chr4:17803864-Variant-C;Patient-30 chr4:17803864-TC Inherited Patient-30 3 prime UTR DCAF16 0.000191 0.000479 NA NA NA DCAF16 8516 Variant C tatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactctt GCAAGTAACAGT CGACGCGGTCTCTCTCTtatacagattaaaattttaatccattagcagttaatgctgaaagcagaaaCgctctcttaatcatttttccattcatcttttgaaatgttatttactcttAGAGGGAGACGGACGTCTCAATAAgcaagtaacagtAGATCGAGACCCGACGC chr4:17803864-Variant-C;Patient-30 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Variant A taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga ACATATGCGGAA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAacatatgcggaaAGATCGAGACCCGACGC chr4:178381015-Variant-A;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Variant A taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GGTTGCTAGTCG CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAggttgctagtcgAGATCGAGACCCGACGC chr4:178381015-Variant-A;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Variant A taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GCCACCAATAAC CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgccaccaataacAGATCGAGACCCGACGC chr4:178381015-Variant-A;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Variant A taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga ACGACCAGAATA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAacgaccagaataAGATCGAGACCCGACGC chr4:178381015-Variant-A;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Variant A taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GGACGCTCCTAA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaAcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAggacgctcctaaAGATCGAGACCCGACGC chr4:178381015-Variant-A;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative C taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GTCATCACAATC CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgtcatcacaatcAGATCGAGACCCGACGC chr4:178381015-Alternative-C;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative C taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga AACGGCTGACGA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAaacggctgacgaAGATCGAGACCCGACGC chr4:178381015-Alternative-C;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative C taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CAACACGTGTGC CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAcaacacgtgtgcAGATCGAGACCCGACGC chr4:178381015-Alternative-C;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Reference G taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GTCGGACGTTGT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgtcggacgttgtAGATCGAGACCCGACGC chr4:178381015-Reference-G;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative T taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GATACGGTGAAT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgatacggtgaatAGATCGAGACCCGACGC chr4:178381015-Alternative-T;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative C taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GTTAAGAGATGC CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgttaagagatgcAGATCGAGACCCGACGC chr4:178381015-Alternative-C;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative T taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CGTTAGTGGATA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAcgttagtggataAGATCGAGACCCGACGC chr4:178381015-Alternative-T;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative T taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga GATTACGCTTCT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAgattacgcttctAGATCGAGACCCGACGC chr4:178381015-Alternative-T;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative C taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga AGGTACCGAAGG CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaCcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAaggtaccgaaggAGATCGAGACCCGACGC chr4:178381015-Alternative-C;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative T taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga AACGCGGCCATA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAaacgcggccataAGATCGAGACCCGACGC chr4:178381015-Alternative-T;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Alternative T taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CGCGACACGAAT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaTcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAcgcgacacgaatAGATCGAGACCCGACGC chr4:178381015-Alternative-T;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Reference G taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CATTCGACCGAA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAcattcgaccgaaAGATCGAGACCCGACGC chr4:178381015-Reference-G;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Reference G taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga ACTGAGGCTATA CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAactgaggctataAGATCGAGACCCGACGC chr4:178381015-Reference-G;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Reference G taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CGAGTACGGCTT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAAcgagtacggcttAGATCGAGACCCGACGC chr4:178381015-Reference-G;Patient-23 chr4:178381015-GA DeNovo Patient-23 intergenic NA 0.000512821 -0.23 0.59 -3.87 AGA 17357 Reference G taagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaaga CTGCGTTGGTCT CGACGCGGTCTCTCTCTtaagagggttacctaaattgtaatcaaatgcatttcaaaaatcccaaacaGcaaaggacaaagtttccatatccatatataccctgaagacaggacaagaAGAGGGAGACGGACGTCTCAATAActgcgttggtctAGATCGAGACCCGACGC chr4:178381015-Reference-G;Patient-23 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Variant T ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ATTGTGGCCGAC CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAattgtggccgacAGATCGAGACCCGACGC chr4:178428305-Variant-T;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Reference A ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat GGTACAAGACTA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAggtacaagactaAGATCGAGACCCGACGC chr4:178428305-Reference-A;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Variant T ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat CTGTTCCTAGCA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAActgttcctagcaAGATCGAGACCCGACGC chr4:178428305-Variant-T;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Variant T ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat CGTGCGTACACT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAcgtgcgtacactAGATCGAGACCCGACGC chr4:178428305-Variant-T;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Reference A ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ATCATGCTCCAT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAatcatgctccatAGATCGAGACCCGACGC chr4:178428305-Reference-A;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Reference A ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat GTATCTATCGCA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAgtatctatcgcaAGATCGAGACCCGACGC chr4:178428305-Reference-A;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Reference A ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat AGCGTCTGATGG CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAagcgtctgatggAGATCGAGACCCGACGC chr4:178428305-Reference-A;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Reference A ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ACCAATGAGCAA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcAcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAaccaatgagcaaAGATCGAGACCCGACGC chr4:178428305-Reference-A;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative C ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ATTGGTTGACGT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAattggttgacgtAGATCGAGACCCGACGC chr4:178428305-Alternative-C;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative C ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat CAGCGAGAGCAT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAcagcgagagcatAGATCGAGACCCGACGC chr4:178428305-Alternative-C;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative C ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat CGGCCAAGTACT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAcggccaagtactAGATCGAGACCCGACGC chr4:178428305-Alternative-C;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative C ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat AGTCGCTATGAT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAagtcgctatgatAGATCGAGACCCGACGC chr4:178428305-Alternative-C;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative G ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ACACGACGCAAG CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAacacgacgcaagAGATCGAGACCCGACGC chr4:178428305-Alternative-G;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative G ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat AATGTTCACCGA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAaatgttcaccgaAGATCGAGACCCGACGC chr4:178428305-Alternative-G;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative C ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat GCCAAGCATAAT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcCcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAgccaagcataatAGATCGAGACCCGACGC chr4:178428305-Alternative-C;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Variant T ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat GACGTCGTAGTC CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAgacgtcgtagtcAGATCGAGACCCGACGC chr4:178428305-Variant-T;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative G ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat CTAGAATAAGCG CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAActagaataagcgAGATCGAGACCCGACGC chr4:178428305-Alternative-G;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative G ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat ATAGCGAACTTC CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAatagcgaacttcAGATCGAGACCCGACGC chr4:178428305-Alternative-G;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Variant T ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat GTCAGATGCGCA CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcTcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAgtcagatgcgcaAGATCGAGACCCGACGC chr4:178428305-Variant-T;Patient-44 chr4:178428305-AT Inherited Patient-44 intergenic 0.000191 0.00103 -0.25 0.52 -3.44 AGA 64647 Alternative G ccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctat AGGTTCACGATT CGACGCGGTCTCTCTCTccattaatgctgtgaaaagataagcaaaggaagttggaaatggagttctcGcaggttatgcttaaacaaagatggagaactcaccacagctttctcctatAGAGGGAGACGGACGTCTCAATAAaggttcacgattAGATCGAGACCCGACGC chr4:178428305-Alternative-G;Patient-44 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Reference G ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CTCGTGAGGTGT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAActcgtgaggtgtAGATCGAGACCCGACGC chr4:183307988-Reference-G;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Reference G ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc AGATTAGGCAGT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAagattaggcagtAGATCGAGACCCGACGC chr4:183307988-Reference-G;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Reference G ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CAACCTAAGCGG CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAcaacctaagcggAGATCGAGACCCGACGC chr4:183307988-Reference-G;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Reference G ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GGACCTACGAAC CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAggacctacgaacAGATCGAGACCCGACGC chr4:183307988-Reference-G;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative T ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GGTGCGTATTGC CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAggtgcgtattgcAGATCGAGACCCGACGC chr4:183307988-Alternative-T;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Variant A ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GCGTATCCGTGT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAgcgtatccgtgtAGATCGAGACCCGACGC chr4:183307988-Variant-A;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Variant A ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CTGAATAGCTGT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAActgaatagctgtAGATCGAGACCCGACGC chr4:183307988-Variant-A;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Variant A ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GGCAGTTCTATA CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAggcagttctataAGATCGAGACCCGACGC chr4:183307988-Variant-A;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Reference G ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CTGCTATGGTAA CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccGcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAActgctatggtaaAGATCGAGACCCGACGC chr4:183307988-Reference-G;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Variant A ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GAAGATCAACCG CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAgaagatcaaccgAGATCGAGACCCGACGC chr4:183307988-Variant-A;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative T ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc AATAGTGCTACC CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAaatagtgctaccAGATCGAGACCCGACGC chr4:183307988-Alternative-T;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative T ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CAGATACCACAT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAcagataccacatAGATCGAGACCCGACGC chr4:183307988-Alternative-T;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative T ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc AGGACCGACATC CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAaggaccgacatcAGATCGAGACCCGACGC chr4:183307988-Alternative-T;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative C ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GTACGACTCGGT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAgtacgactcggtAGATCGAGACCCGACGC chr4:183307988-Alternative-C;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Variant A ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc ACAATTGGACCT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccAcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAacaattggacctAGATCGAGACCCGACGC chr4:183307988-Variant-A;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative T ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc CAGTCGTACGCA CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccTcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAcagtcgtacgcaAGATCGAGACCCGACGC chr4:183307988-Alternative-T;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative C ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GCGAGCGAGATT CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAgcgagcgagattAGATCGAGACCCGACGC chr4:183307988-Alternative-C;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative C ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GGCTTAGGACGA CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAggcttaggacgaAGATCGAGACCCGACGC chr4:183307988-Alternative-C;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative C ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc AGATGGTGATAC CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAagatggtgatacAGATCGAGACCCGACGC chr4:183307988-Alternative-C;Patient-55 chr4:183307988-GA Inherited Patient-55 intronic TENM3 NA 4.95e-05 -0.09 1.51 0 TENM3 62850 Alternative C ccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgcccc GGCTGACAGCAA CGACGCGGTCTCTCTCTccgcggggcaggcctccggactgaagcccgccatgcctgagccttcccccCcctccgtgggttcctgtgcagcccgagcctccccgacgaatgccgccccAGAGGGAGACGGACGTCTCAATAAggctgacagcaaAGATCGAGACCCGACGC chr4:183307988-Alternative-C;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative G aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat AATCGTTACGCT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAaatcgttacgctAGATCGAGACCCGACGC chr4:183819628-Alternative-G;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative G aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat ATTACTACGTGG CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAattactacgtggAGATCGAGACCCGACGC chr4:183819628-Alternative-G;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative G aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat ATAGGAACACCA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAataggaacaccaAGATCGAGACCCGACGC chr4:183819628-Alternative-G;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative G aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat AGCTGACGACGA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAagctgacgacgaAGATCGAGACCCGACGC chr4:183819628-Alternative-G;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative G aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat CGATAGCATCGC CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaGatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAcgatagcatcgcAGATCGAGACCCGACGC chr4:183819628-Alternative-G;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Variant T aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat AACAACCTTCGG CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAaacaaccttcggAGATCGAGACCCGACGC chr4:183819628-Variant-T;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Reference C aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GATCATACGCCA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAgatcatacgccaAGATCGAGACCCGACGC chr4:183819628-Reference-C;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Variant T aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GTGCGACTCGTT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAgtgcgactcgttAGATCGAGACCCGACGC chr4:183819628-Variant-T;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Variant T aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat AATAGCGTGACA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAaatagcgtgacaAGATCGAGACCCGACGC chr4:183819628-Variant-T;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative A aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat CTAGACATGCTA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAActagacatgctaAGATCGAGACCCGACGC chr4:183819628-Alternative-A;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Variant T aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GGTATGTTGGTT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAggtatgttggttAGATCGAGACCCGACGC chr4:183819628-Variant-T;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Variant T aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GACTAAGGCGCA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaTatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAgactaaggcgcaAGATCGAGACCCGACGC chr4:183819628-Variant-T;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative A aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GCACGCGCAATT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAgcacgcgcaattAGATCGAGACCCGACGC chr4:183819628-Alternative-A;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative A aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat CGGCGATCACAT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAcggcgatcacatAGATCGAGACCCGACGC chr4:183819628-Alternative-A;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative A aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat ATAGACCTAACC CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAatagacctaaccAGATCGAGACCCGACGC chr4:183819628-Alternative-A;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Reference C aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat CAGTATGTGACT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAcagtatgtgactAGATCGAGACCCGACGC chr4:183819628-Reference-C;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Reference C aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat ATCCTCGTTCAA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAatcctcgttcaaAGATCGAGACCCGACGC chr4:183819628-Reference-C;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Reference C aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat CGCATCTAATGT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAcgcatctaatgtAGATCGAGACCCGACGC chr4:183819628-Reference-C;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Alternative A aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat AGTGCCTCGTGA CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaAatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAagtgcctcgtgaAGATCGAGACCCGACGC chr4:183819628-Alternative-A;Patient-55 chr4:183819628-CT Inherited Patient-55 intronic DCTD 6.4e-05 4.95e-05 0.06 3.62 0.98 DCTD 19001 Reference C aagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaat GTCAACTGCGCT CGACGCGGTCTCTCTCTaagtgcatttccagctaactaaataaaagcaatttaaaaaataccaagtaCatccgatgtctttgcttttttcctaaggtttccagtttcattcctcaatAGAGGGAGACGGACGTCTCAATAAgtcaactgcgctAGATCGAGACCCGACGC chr4:183819628-Reference-C;Patient-55 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative T tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGTCGAGTAGAT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAagtcgagtagatAGATCGAGACCCGACGC chr4:184461225-Alternative-T;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Variant G tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac CGTTCGAACGCA CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAcgttcgaacgcaAGATCGAGACCCGACGC chr4:184461225-Variant-G;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative T tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACGGTATATCGC CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAacggtatatcgcAGATCGAGACCCGACGC chr4:184461225-Alternative-T;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Variant G tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac GTGGCTAAGACG CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAgtggctaagacgAGATCGAGACCCGACGC chr4:184461225-Variant-G;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Variant G tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac GCGTTAACCGAC CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAgcgttaaccgacAGATCGAGACCCGACGC chr4:184461225-Variant-G;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Variant G tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ATCCTACTGGCG CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAatcctactggcgAGATCGAGACCCGACGC chr4:184461225-Variant-G;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Variant G tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACACATACCACG CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaGtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAacacataccacgAGATCGAGACCCGACGC chr4:184461225-Variant-G;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Reference A tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACTCGGACCGAT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAactcggaccgatAGATCGAGACCCGACGC chr4:184461225-Reference-A;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative T tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac CTATCATAGACG CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAActatcatagacgAGATCGAGACCCGACGC chr4:184461225-Alternative-T;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative T tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AACGAGCGGTGT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAaacgagcggtgtAGATCGAGACCCGACGC chr4:184461225-Alternative-T;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Reference A tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACTCCGGCAGAT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAactccggcagatAGATCGAGACCCGACGC chr4:184461225-Reference-A;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Reference A tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGGCGGTTGAAC CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAaggcggttgaacAGATCGAGACCCGACGC chr4:184461225-Reference-A;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative T tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac CTGCTCGTTATA CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaTtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAActgctcgttataAGATCGAGACCCGACGC chr4:184461225-Alternative-T;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Reference A tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGGTGGTCGAGT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAaggtggtcgagtAGATCGAGACCCGACGC chr4:184461225-Reference-A;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Reference A tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGGCGAGTCTAC CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaAtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAaggcgagtctacAGATCGAGACCCGACGC chr4:184461225-Reference-A;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative C tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACTATTCGGCGG CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAactattcggcggAGATCGAGACCCGACGC chr4:184461225-Alternative-C;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative C tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac ACCTAACAGGAT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAacctaacaggatAGATCGAGACCCGACGC chr4:184461225-Alternative-C;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative C tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac GTAGTCGTTCTT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAgtagtcgttcttAGATCGAGACCCGACGC chr4:184461225-Alternative-C;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative C tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGTAGCGGCTGA CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAagtagcggctgaAGATCGAGACCCGACGC chr4:184461225-Alternative-C;Patient-54 chr4:184461225-AG DeNovo Patient-54 intergenic NA 0.000513 -0.46 0.12 -0.3 ING2 35004 Alternative C tgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccac AGGCGAATAACT CGACGCGGTCTCTCTCTtgtacatttaaaaaatttttcccagctatttgggaggctgaggcaggagaCtcacttgaacccgggaggcagaggttgcagtgagtcgagctcatgccacAGAGGGAGACGGACGTCTCAATAAaggcgaataactAGATCGAGACCCGACGC chr4:184461225-Alternative-C;Patient-54 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Variant C ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CGTCGGATAATT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAcgtcggataattAGATCGAGACCCGACGC chr4:184586382-Variant-C;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Variant C ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt GCCAGGACATTC CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAgccaggacattcAGATCGAGACCCGACGC chr4:184586382-Variant-C;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Reference G ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AAGACCTGGCGT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAaagacctggcgtAGATCGAGACCCGACGC chr4:184586382-Reference-G;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Variant C ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AAGCGTGCTATT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAaagcgtgctattAGATCGAGACCCGACGC chr4:184586382-Variant-C;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Variant C ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CATCGCACAACA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAcatcgcacaacaAGATCGAGACCCGACGC chr4:184586382-Variant-C;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative A ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AACGACGACTAA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAaacgacgactaaAGATCGAGACCCGACGC chr4:184586382-Alternative-A;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Reference G ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AGCCACCGTATC CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAagccaccgtatcAGATCGAGACCCGACGC chr4:184586382-Reference-G;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Variant C ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt GTGCTACAAGTT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgCgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAgtgctacaagttAGATCGAGACCCGACGC chr4:184586382-Variant-C;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative T ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AATACCACTCGA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAaataccactcgaAGATCGAGACCCGACGC chr4:184586382-Alternative-T;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Reference G ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt ATACCGCGTACC CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAataccgcgtaccAGATCGAGACCCGACGC chr4:184586382-Reference-G;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative A ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CTTGCGTATAGT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAActtgcgtatagtAGATCGAGACCCGACGC chr4:184586382-Alternative-A;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Reference G ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CGCGTCTGACAT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAcgcgtctgacatAGATCGAGACCCGACGC chr4:184586382-Reference-G;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative T ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CGATGCGATTAT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAcgatgcgattatAGATCGAGACCCGACGC chr4:184586382-Alternative-T;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Reference G ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt ATCGACAGCGCA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgGgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAatcgacagcgcaAGATCGAGACCCGACGC chr4:184586382-Reference-G;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative T ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt ACCTCGTATCAT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAacctcgtatcatAGATCGAGACCCGACGC chr4:184586382-Alternative-T;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative A ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt AGCTGGTTATGT CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAagctggttatgtAGATCGAGACCCGACGC chr4:184586382-Alternative-A;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative A ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt GATTCTGTTCCA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAgattctgttccaAGATCGAGACCCGACGC chr4:184586382-Alternative-A;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative T ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt GACTAAGTACGA CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAgactaagtacgaAGATCGAGACCCGACGC chr4:184586382-Alternative-T;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative T ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt GTTCACTCGAAG CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgTgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAAgttcactcgaagAGATCGAGACCCGACGC chr4:184586382-Alternative-T;Patient-64 chr4:184586382-GC DeNovo Patient-64 intronic TRAPPC11 NA 4.95e-05 -0.3 0.35 0.23 TRAPPC11 5961 Alternative A ccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagt CTGGTATGTCAC CGACGCGGTCTCTCTCTccgcctcctgggttcgtgccattctcctgcttcagcctcccgagtggctgAgactacaggcgcccgccaccacgtccagctaattttctgtatttttagtAGAGGGAGACGGACGTCTCAATAActggtatgtcacAGATCGAGACCCGACGC chr4:184586382-Alternative-A;Patient-64 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Reference A gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg CGGCTAAGAATA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAcggctaagaataAGATCGAGACCCGACGC chr4:185697468-Reference-A;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Reference A gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ATCGGCCGTGAT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAatcggccgtgatAGATCGAGACCCGACGC chr4:185697468-Reference-A;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative T gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GACGAGATACGC CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAgacgagatacgcAGATCGAGACCCGACGC chr4:185697468-Alternative-T;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Reference A gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg CATTATGCTCGT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAcattatgctcgtAGATCGAGACCCGACGC chr4:185697468-Reference-A;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative T gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ACCGTTACGAAT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAaccgttacgaatAGATCGAGACCCGACGC chr4:185697468-Alternative-T;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Variant C gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GGTCGTAACGTC CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAggtcgtaacgtcAGATCGAGACCCGACGC chr4:185697468-Variant-C;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Reference A gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ACTTGCCTAAGA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAacttgcctaagaAGATCGAGACCCGACGC chr4:185697468-Reference-A;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Reference A gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg CTGAGTTATGAG CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaAtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAActgagttatgagAGATCGAGACCCGACGC chr4:185697468-Reference-A;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative T gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GACCGACCTCTA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAgaccgacctctaAGATCGAGACCCGACGC chr4:185697468-Alternative-T;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Variant C gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GTCCGGAATCAA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAgtccggaatcaaAGATCGAGACCCGACGC chr4:185697468-Variant-C;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative T gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg CACGTAGACGAA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAcacgtagacgaaAGATCGAGACCCGACGC chr4:185697468-Alternative-T;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative G gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg CGACGAAGTCAA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAcgacgaagtcaaAGATCGAGACCCGACGC chr4:185697468-Alternative-G;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Variant C gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ACCTTATTCCGT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAaccttattccgtAGATCGAGACCCGACGC chr4:185697468-Variant-C;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Variant C gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ATTACGCGTACA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAattacgcgtacaAGATCGAGACCCGACGC chr4:185697468-Variant-C;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative T gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ACTTCGTCGTAA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaTtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAacttcgtcgtaaAGATCGAGACCCGACGC chr4:185697468-Alternative-T;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Variant C gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg ATAGATTCCACG CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaCtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAatagattccacgAGATCGAGACCCGACGC chr4:185697468-Variant-C;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative G gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GCCAAGTACGCT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAgccaagtacgctAGATCGAGACCCGACGC chr4:185697468-Alternative-G;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative G gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GAGAGTAATGCT CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAgagagtaatgctAGATCGAGACCCGACGC chr4:185697468-Alternative-G;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative G gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GGTGAACGCCTA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAggtgaacgcctaAGATCGAGACCCGACGC chr4:185697468-Alternative-G;Patient-109 chr4:185697468-AC DeNovo Patient-109 intronic ACSL1 NA 9.47e-05 0.3 7.16 3.62 CENPU 42181 Alternative G gaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttg GGCTTCTATCAA CGACGCGGTCTCTCTCTgaaagcacttgggtaaggtgtgaggtgttaacactgggcacacatgtagaGtcctttttccagcaatgagacagaagtttctgctctctttcatgggttgAGAGGGAGACGGACGTCTCAATAAggcttctatcaaAGATCGAGACCCGACGC chr4:185697468-Alternative-G;Patient-109 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Reference C cctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa GATTGTAGATCG CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAgattgtagatcgAGATCGAGACCCGACGC chr4:185788065-Reference-C;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Reference C cctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa GTGCCGCAGTTA CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAgtgccgcagttaAGATCGAGACCCGACGC chr4:185788065-Reference-C;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Reference C cctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AGGTTGTATTCG CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAaggttgtattcgAGATCGAGACCCGACGC chr4:185788065-Reference-C;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Reference C cctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa CGGAAGACTATA CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAcggaagactataAGATCGAGACCCGACGC chr4:185788065-Reference-C;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Reference C cctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ACGGTCCTAATA CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattCtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAacggtcctaataAGATCGAGACCCGACGC chr4:185788065-Reference-C;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative G cctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa CGGTGTACTACC CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAcggtgtactaccAGATCGAGACCCGACGC chr4:185788065-Alternative-G;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Variant T cctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa GAGGTACAGTCG CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAgaggtacagtcgAGATCGAGACCCGACGC chr4:185788065-Variant-T;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative A cctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AGGCTTAACCTA CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAaggcttaacctaAGATCGAGACCCGACGC chr4:185788065-Alternative-A;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative A cctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ATCTTGGTACCT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAatcttggtacctAGATCGAGACCCGACGC chr4:185788065-Alternative-A;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative G cctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa CTAGTAAGAGCA CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAActagtaagagcaAGATCGAGACCCGACGC chr4:185788065-Alternative-G;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Variant T cctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ATAGGCTGACTT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAataggctgacttAGATCGAGACCCGACGC chr4:185788065-Variant-T;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative G cctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ACGTCCTTGCGT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAacgtccttgcgtAGATCGAGACCCGACGC chr4:185788065-Alternative-G;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative G cctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AGATCCGCTCAT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAagatccgctcatAGATCGAGACCCGACGC chr4:185788065-Alternative-G;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative A cctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AGTTCCGCTGTT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAagttccgctgttAGATCGAGACCCGACGC chr4:185788065-Alternative-A;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative A cctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AAGTGGCTCGTC CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAaagtggctcgtcAGATCGAGACCCGACGC chr4:185788065-Alternative-A;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative A cctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa CTCGGTACAGAT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattAtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAActcggtacagatAGATCGAGACCCGACGC chr4:185788065-Alternative-A;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Variant T cctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ATACCGCAACAT CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAataccgcaacatAGATCGAGACCCGACGC chr4:185788065-Variant-T;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Variant T cctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa CGATCGACATTC CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAcgatcgacattcAGATCGAGACCCGACGC chr4:185788065-Variant-T;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Variant T cctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa ACATAGCTCGAC CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattTtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAacatagctcgacAGATCGAGACCCGACGC chr4:185788065-Variant-T;Patient-35 chr4:185788065-CT DeNovo Patient-35 intergenic NA 0.000513 0.14 4.93 1.72 ACSL1 40849 Alternative G cctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaa AGAACGTCGTGG CGACGCGGTCTCTCTCTcctcactgggcccctccagagacaccagcactagccattggcatctcattGtcagaagtctgggtttctgccctgtggagccccattttgaaggctccaaAGAGGGAGACGGACGTCTCAATAAagaacgtcgtggAGATCGAGACCCGACGC chr4:185788065-Alternative-G;Patient-35 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative G atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa AGATCCTGGACA CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAagatcctggacaAGATCGAGACCCGACGC chr4:185797054-Alternative-G;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative G atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CGACTCATACGG CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAcgactcatacggAGATCGAGACCCGACGC chr4:185797054-Alternative-G;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative G atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa ATCATCGCGATA CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAatcatcgcgataAGATCGAGACCCGACGC chr4:185797054-Alternative-G;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative G atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GCATAGACTAAG CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgcatagactaagAGATCGAGACCCGACGC chr4:185797054-Alternative-G;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Variant T atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GATTCGGACCGT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgattcggaccgtAGATCGAGACCCGACGC chr4:185797054-Variant-T;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative G atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GTCATGTTACCT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggGggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgtcatgttacctAGATCGAGACCCGACGC chr4:185797054-Alternative-G;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Variant T atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GCGAACATTGAA CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgcgaacattgaaAGATCGAGACCCGACGC chr4:185797054-Variant-T;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative A atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CGTGCTGCCTAT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAcgtgctgcctatAGATCGAGACCCGACGC chr4:185797054-Alternative-A;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative A atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CACAGATTAGCT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAcacagattagctAGATCGAGACCCGACGC chr4:185797054-Alternative-A;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative A atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa ACGCGGAGTGAA CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAacgcggagtgaaAGATCGAGACCCGACGC chr4:185797054-Alternative-A;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Reference C atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GCATATTCGGCG CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgcatattcggcgAGATCGAGACCCGACGC chr4:185797054-Reference-C;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Reference C atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GACTAGGCGACT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAgactaggcgactAGATCGAGACCCGACGC chr4:185797054-Reference-C;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Reference C atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa ACAGCGATGTGG CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAacagcgatgtggAGATCGAGACCCGACGC chr4:185797054-Reference-C;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Reference C atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa GGACCTTGAACT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAggaccttgaactAGATCGAGACCCGACGC chr4:185797054-Reference-C;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Variant T atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CTCATAGCCGCT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAActcatagccgctAGATCGAGACCCGACGC chr4:185797054-Variant-T;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Variant T atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CATTAAGGCGAA CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAcattaaggcgaaAGATCGAGACCCGACGC chr4:185797054-Variant-T;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Variant T atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CGGTCGCAACAT CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggTggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAcggtcgcaacatAGATCGAGACCCGACGC chr4:185797054-Variant-T;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative A atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa AGACTGGTACGG CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAagactggtacggAGATCGAGACCCGACGC chr4:185797054-Alternative-A;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Alternative A atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa CTAAGCTTGTTC CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggAggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAActaagcttgttcAGATCGAGACCCGACGC chr4:185797054-Alternative-A;Patient-37 chr4:185797054-CT Inherited Patient-37 intergenic 0.00016 0.000513 0.28 6.92 0.4 ACSL1 49838 Reference C atgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaa ATAAGGCGTCGC CGACGCGGTCTCTCTCTatgcagtctgtgagacatttaagagcaaagttatgggaggccgaggcaggCggatcacctgaggtcaggagttaaagaccagcctggccaacatggtgaaAGAGGGAGACGGACGTCTCAATAAataaggcgtcgcAGATCGAGACCCGACGC chr4:185797054-Reference-C;Patient-37 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Reference G ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagtt ATAAGACCGCAA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAataagaccgcaaAGATCGAGACCCGACGC chr4:185966367-Reference-G;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Reference G ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CGATCGCATACG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcgatcgcatacgAGATCGAGACCCGACGC chr4:185966367-Reference-G;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Reference G ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CATGCGTAAGAA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcatgcgtaagaaAGATCGAGACCCGACGC chr4:185966367-Reference-G;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Reference G ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagtt ACCTACTAAGCA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAacctactaagcaAGATCGAGACCCGACGC chr4:185966367-Reference-G;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Reference G ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagtt AGCGTCAGATGC CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggGccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAagcgtcagatgcAGATCGAGACCCGACGC chr4:185966367-Reference-G;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative T ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GGTACGCATTCG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAggtacgcattcgAGATCGAGACCCGACGC chr4:185966367-Alternative-T;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative T ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CACGAGAACGCA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcacgagaacgcaAGATCGAGACCCGACGC chr4:185966367-Alternative-T;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative T ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GCGGAACTAAGT CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAgcggaactaagtAGATCGAGACCCGACGC chr4:185966367-Alternative-T;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative T ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagtt AGTGTTAGGCTT CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAagtgttaggcttAGATCGAGACCCGACGC chr4:185966367-Alternative-T;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative C ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CGTTGATAGACG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcgttgatagacgAGATCGAGACCCGACGC chr4:185966367-Alternative-C;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative T ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GTCGATTGTCGG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggTccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAgtcgattgtcggAGATCGAGACCCGACGC chr4:185966367-Alternative-T;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Variant A ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagtt AGCGCATAGATA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAagcgcatagataAGATCGAGACCCGACGC chr4:185966367-Variant-A;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative C ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GTGACGATCTTA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAgtgacgatcttaAGATCGAGACCCGACGC chr4:185966367-Alternative-C;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Variant A ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CGTCTAGTCGCT CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcgtctagtcgctAGATCGAGACCCGACGC chr4:185966367-Variant-A;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Variant A ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GTCGCTGCATTC CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAgtcgctgcattcAGATCGAGACCCGACGC chr4:185966367-Variant-A;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Variant A ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CACATAGACAAG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAcacatagacaagAGATCGAGACCCGACGC chr4:185966367-Variant-A;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Variant A ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagtt ATCAATCTGTGG CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggAccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAatcaatctgtggAGATCGAGACCCGACGC chr4:185966367-Variant-A;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative C ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagtt GTGCGCGGTATA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAgtgcgcggtataAGATCGAGACCCGACGC chr4:185966367-Alternative-C;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative C ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagtt CTCTAGGACCTT CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAActctaggaccttAGATCGAGACCCGACGC chr4:185966367-Alternative-C;Patient-55 chr4:185966367-GA DeNovo Patient-55 intergenic NA 0.000513 -0.07 1.76 0.05 HELT 26283 Alternative C ccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagtt ATACCGCAGTCA CGACGCGGTCTCTCTCTccttgccctcattcctgtaaacccacaaccttccagcttgggcattagggCccattatggacatgtttcagtgctgcagagattttgtttatggccagttAGAGGGAGACGGACGTCTCAATAAataccgcagtcaAGATCGAGACCCGACGC chr4:185966367-Alternative-C;Patient-55 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative A cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat ATAGCTCTTAGG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAatagctcttaggAGATCGAGACCCGACGC chr4:186858048-Alternative-A;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Reference C cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GGAGATTAGCGT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAggagattagcgtAGATCGAGACCCGACGC chr4:186858048-Reference-C;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Reference C cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGGTAGCATCAG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcggtagcatcagAGATCGAGACCCGACGC chr4:186858048-Reference-C;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Reference C cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CTCACACGTCCA CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAActcacacgtccaAGATCGAGACCCGACGC chr4:186858048-Reference-C;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Reference C cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat ACACGCTAAGAA CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAacacgctaagaaAGATCGAGACCCGACGC chr4:186858048-Reference-C;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative A cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGTGGTACGTCA CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcgtggtacgtcaAGATCGAGACCCGACGC chr4:186858048-Alternative-A;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative A cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGTGTGATTCGG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcgtgtgattcggAGATCGAGACCCGACGC chr4:186858048-Alternative-A;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative A cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat ACGCCGAATAAG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAacgccgaataagAGATCGAGACCCGACGC chr4:186858048-Alternative-A;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative G cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GATGATGTGGAT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAgatgatgtggatAGATCGAGACCCGACGC chr4:186858048-Alternative-G;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative G cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GCGACCTCTTGT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAgcgacctcttgtAGATCGAGACCCGACGC chr4:186858048-Alternative-G;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Variant T cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat ATCTCGTAACCG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAatctcgtaaccgAGATCGAGACCCGACGC chr4:186858048-Variant-T;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Variant T cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGCTAGGTAACT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcgctaggtaactAGATCGAGACCCGACGC chr4:186858048-Variant-T;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative G cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GGTGTTACGCGT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAggtgttacgcgtAGATCGAGACCCGACGC chr4:186858048-Alternative-G;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Variant T cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGCGAGCATTGT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcgcgagcattgtAGATCGAGACCCGACGC chr4:186858048-Variant-T;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Reference C cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat AGATTGCGTGCG CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaCtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAagattgcgtgcgAGATCGAGACCCGACGC chr4:186858048-Reference-C;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative G cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat AGTCATAGCGAA CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAagtcatagcgaaAGATCGAGACCCGACGC chr4:186858048-Alternative-G;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Variant T cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GATTGCTCCATT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAgattgctccattAGATCGAGACCCGACGC chr4:186858048-Variant-T;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative A cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat ATACGGCACGCT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaAtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAatacggcacgctAGATCGAGACCCGACGC chr4:186858048-Alternative-A;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Variant T cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat CGTATAGATCGT CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaTtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAcgtatagatcgtAGATCGAGACCCGACGC chr4:186858048-Variant-T;Patient-71 chr4:186858048-CT DeNovo Patient-71 intronic SORBS2 NA 0.000319 0.13 4.69 1.89 SORBS2 19821 Alternative G cagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaat GTGAACGCTATC CGACGCGGTCTCTCTCTcagcacagcatgcacggcacggcacagcatggcacgggctgtcagtttcaGtgaaggtggaaattcctcaagaatgcctaattagaatgttttaaaaaatAGAGGGAGACGGACGTCTCAATAAgtgaacgctatcAGATCGAGACCCGACGC chr4:186858048-Alternative-G;Patient-71 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative A attgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GCAACGCGCTTA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAgcaacgcgcttaAGATCGAGACCCGACGC chr4:1895284-Alternative-A;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Variant G attgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc ACGAGCTGTAGA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAacgagctgtagaAGATCGAGACCCGACGC chr4:1895284-Variant-G;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative A attgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CGTAGAACACCG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAcgtagaacaccgAGATCGAGACCCGACGC chr4:1895284-Alternative-A;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Variant G attgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CTAACCGGACGA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAActaaccggacgaAGATCGAGACCCGACGC chr4:1895284-Variant-G;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Variant G attgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CAACAGCATTCA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAcaacagcattcaAGATCGAGACCCGACGC chr4:1895284-Variant-G;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Reference T attgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GTTCAATGGCGA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAgttcaatggcgaAGATCGAGACCCGACGC chr4:1895284-Reference-T;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Reference T attgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc ACTAGGCCATGG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAactaggccatggAGATCGAGACCCGACGC chr4:1895284-Reference-T;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative A attgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc ACGTACTCGCGT CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAacgtactcgcgtAGATCGAGACCCGACGC chr4:1895284-Alternative-A;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Reference T attgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc ACAAGGAACGCG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAacaaggaacgcgAGATCGAGACCCGACGC chr4:1895284-Reference-T;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative C attgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CAGACGTCCAAG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAcagacgtccaagAGATCGAGACCCGACGC chr4:1895284-Alternative-C;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative A attgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc ATTACGGTAAGG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAattacggtaaggAGATCGAGACCCGACGC chr4:1895284-Alternative-A;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Variant G attgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc AGAATTGCGAAC CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAagaattgcgaacAGATCGAGACCCGACGC chr4:1895284-Variant-G;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Reference T attgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GGAGATTCGGAC CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAggagattcggacAGATCGAGACCCGACGC chr4:1895284-Reference-T;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative C attgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CTAACGGAGTGG CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAActaacggagtggAGATCGAGACCCGACGC chr4:1895284-Alternative-C;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Reference T attgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GTGACTCGAATC CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttTttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAgtgactcgaatcAGATCGAGACCCGACGC chr4:1895284-Reference-T;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative C attgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc CATTGAAGGTTC CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAcattgaaggttcAGATCGAGACCCGACGC chr4:1895284-Alternative-C;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative A attgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GCGCTCTAATTA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttAttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAgcgctctaattaAGATCGAGACCCGACGC chr4:1895284-Alternative-A;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Variant G attgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GGCGGCGAATAA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttGttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAggcggcgaataaAGATCGAGACCCGACGC chr4:1895284-Variant-G;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative C attgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GGCTTCTCAATA CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAggcttctcaataAGATCGAGACCCGACGC chr4:1895284-Alternative-C;Patient-21 chr4:1895284-TG DeNovo Patient-21 intronic NSD2 0.000277 0.00016 -0.03 2.17 0.35 NSD2 22160 Alternative C attgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgc GTGTAGCGAGGT CGACGCGGTCTCTCTCTattgcaagatgtattttgcctctttttttgttttttgtttttttttttttCttgttttgttttgagacaaggtcttgctctgtaccccaggctggagtgcAGAGGGAGACGGACGTCTCAATAAgtgtagcgaggtAGATCGAGACCCGACGC chr4:1895284-Alternative-C;Patient-21 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative A gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CTTGCGTCCTAC CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAActtgcgtcctacAGATCGAGACCCGACGC chr4:190802371-Alternative-A;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative C gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CACTAGCGCCAA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcactagcgccaaAGATCGAGACCCGACGC chr4:190802371-Alternative-C;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative A gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta AGGCGCTTGACA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAaggcgcttgacaAGATCGAGACCCGACGC chr4:190802371-Alternative-A;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative C gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CGAGCGAGCATA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcgagcgagcataAGATCGAGACCCGACGC chr4:190802371-Alternative-C;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative C gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta AGCAGTAGTCAC CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAagcagtagtcacAGATCGAGACCCGACGC chr4:190802371-Alternative-C;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative C gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GGCGTAGACGAA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAggcgtagacgaaAGATCGAGACCCGACGC chr4:190802371-Alternative-C;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative C gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta AACTAATCGTGC CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaCgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAaactaatcgtgcAGATCGAGACCCGACGC chr4:190802371-Alternative-C;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative A gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GATGCATCCAAG CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAgatgcatccaagAGATCGAGACCCGACGC chr4:190802371-Alternative-A;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative A gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GACGATTACGTT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAgacgattacgttAGATCGAGACCCGACGC chr4:190802371-Alternative-A;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Alternative A gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CAGTCCGCGTAT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaAgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcagtccgcgtatAGATCGAGACCCGACGC chr4:190802371-Alternative-A;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Variant T gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CTTATGCTCACA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAActtatgctcacaAGATCGAGACCCGACGC chr4:190802371-Variant-T;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Reference G gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CGTCTGTGCTGT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcgtctgtgctgtAGATCGAGACCCGACGC chr4:190802371-Reference-G;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Reference G gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GATTAGTGGACA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAgattagtggacaAGATCGAGACCCGACGC chr4:190802371-Reference-G;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Reference G gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CATTCGACATGA CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcattcgacatgaAGATCGAGACCCGACGC chr4:190802371-Reference-G;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Reference G gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GCAACAACACCG CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAgcaacaacaccgAGATCGAGACCCGACGC chr4:190802371-Reference-G;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Variant T gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CTCTGAGCATAT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAActctgagcatatAGATCGAGACCCGACGC chr4:190802371-Variant-T;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Reference G gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta AACCAACGTGGT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaGgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAaaccaacgtggtAGATCGAGACCCGACGC chr4:190802371-Reference-G;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Variant T gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta GAATCATCGTAC CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAgaatcatcgtacAGATCGAGACCCGACGC chr4:190802371-Variant-T;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Variant T gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta ACAACGAGTAGT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAacaacgagtagtAGATCGAGACCCGACGC chr4:190802371-Variant-T;Patient-57 chr4:190802371-GT DeNovo Patient-57 intergenic 0.000679 0.00308 0.12 4.62 -0.08 FRG1 59602 Variant T gggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggta CGGTCTGGTTGT CGACGCGGTCTCTCTCTgggatgaaacgaggtttgaaaggaaatagagattgttaaactcctgactaTgcgataactgccgtccttctcttctatctgcccctgtgactaggcggtaAGAGGGAGACGGACGTCTCAATAAcggtctggttgtAGATCGAGACCCGACGC chr4:190802371-Variant-T;Patient-57 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative T atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CTATACGAACGG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAActatacgaacggAGATCGAGACCCGACGC chr4:1948749-Alternative-T;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Reference G atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GCGCACCTATGA CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAgcgcacctatgaAGATCGAGACCCGACGC chr4:1948749-Reference-G;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Reference G atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg ACTACGTTCCAT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAactacgttccatAGATCGAGACCCGACGC chr4:1948749-Reference-G;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative T atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg AAGCAACATCAG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAaagcaacatcagAGATCGAGACCCGACGC chr4:1948749-Alternative-T;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Variant C atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GGTACACACGAT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAggtacacacgatAGATCGAGACCCGACGC chr4:1948749-Variant-C;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative T atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CTACGTGGACAC CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAActacgtggacacAGATCGAGACCCGACGC chr4:1948749-Alternative-T;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative T atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GGTAACGGAATT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAggtaacggaattAGATCGAGACCCGACGC chr4:1948749-Alternative-T;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Reference G atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CTTAATGGACCT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAActtaatggacctAGATCGAGACCCGACGC chr4:1948749-Reference-G;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Variant C atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GATAGTCTGACA CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAgatagtctgacaAGATCGAGACCCGACGC chr4:1948749-Variant-C;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative T atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CGTATGTATCCT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggTtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAcgtatgtatcctAGATCGAGACCCGACGC chr4:1948749-Alternative-T;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Reference G atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg AGTGGCATGCAG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAagtggcatgcagAGATCGAGACCCGACGC chr4:1948749-Reference-G;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Variant C atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GTTGACAGCGAG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAgttgacagcgagAGATCGAGACCCGACGC chr4:1948749-Variant-C;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative A atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg ACTCGGAACGCT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAactcggaacgctAGATCGAGACCCGACGC chr4:1948749-Alternative-A;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative A atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg AACTATGGCGAA CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAaactatggcgaaAGATCGAGACCCGACGC chr4:1948749-Alternative-A;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Reference G atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg ACTGTGCGACCT CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggGtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAactgtgcgacctAGATCGAGACCCGACGC chr4:1948749-Reference-G;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Variant C atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg ATATTCGCGACC CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAatattcgcgaccAGATCGAGACCCGACGC chr4:1948749-Variant-C;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative A atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg GGTGTTGCATCG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAggtgttgcatcgAGATCGAGACCCGACGC chr4:1948749-Alternative-A;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative A atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CAATTACGGTAC CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAcaattacggtacAGATCGAGACCCGACGC chr4:1948749-Alternative-A;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Alternative A atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg ACTGGTATTGCG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggAtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAactggtattgcgAGATCGAGACCCGACGC chr4:1948749-Alternative-A;Patient-32 chr4:1948749-GC DeNovo Patient-32 intronic NSD2 NA 4.95e-05 0.04 3.21 2.16 NELFA 62212 Variant C atgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtg CGTCCTGAACAG CGACGCGGTCTCTCTCTatgctgaccatccaggcatatagtattttcaagaaatgactgaggtagggCtgggggtcctggtccggctgatgggggtttgctcagcactgtgccagtgAGAGGGAGACGGACGTCTCAATAAcgtcctgaacagAGATCGAGACCCGACGC chr4:1948749-Variant-C;Patient-32 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative A cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GATGCTCGATTA CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgatgctcgattaAGATCGAGACCCGACGC chr4:2053543-Alternative-A;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative A cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CAGTATAGGCTT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAcagtataggcttAGATCGAGACCCGACGC chr4:2053543-Alternative-A;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative A cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CACGTTCTGGAG CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAcacgttctggagAGATCGAGACCCGACGC chr4:2053543-Alternative-A;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Variant C cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttct AGAGTCCGTCGT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAagagtccgtcgtAGATCGAGACCCGACGC chr4:2053543-Variant-C;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative A cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttct AGGACATGACAT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAaggacatgacatAGATCGAGACCCGACGC chr4:2053543-Alternative-A;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative A cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttct ACGACGAGATCG CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgAtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAacgacgagatcgAGATCGAGACCCGACGC chr4:2053543-Alternative-A;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Variant C cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GTCGGATTAACT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgtcggattaactAGATCGAGACCCGACGC chr4:2053543-Variant-C;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Variant C cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttct AGTGCTACGTAA CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAagtgctacgtaaAGATCGAGACCCGACGC chr4:2053543-Variant-C;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Variant C cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GCGTACACGGTT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgcgtacacggttAGATCGAGACCCGACGC chr4:2053543-Variant-C;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Variant C cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CGTACGGTAAGG CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgCtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAcgtacggtaaggAGATCGAGACCCGACGC chr4:2053543-Variant-C;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Reference T cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttct AGTTCGCGAGCA CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAagttcgcgagcaAGATCGAGACCCGACGC chr4:2053543-Reference-T;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Reference T cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GATTATCGGTTC CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgattatcggttcAGATCGAGACCCGACGC chr4:2053543-Reference-T;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Reference T cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttct AGAACGACCAGG CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAagaacgaccaggAGATCGAGACCCGACGC chr4:2053543-Reference-T;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Reference T cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CATAATCGGCGC CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAcataatcggcgcAGATCGAGACCCGACGC chr4:2053543-Reference-T;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Reference T cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttct ACAACACGAGAT CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgTtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAacaacacgagatAGATCGAGACCCGACGC chr4:2053543-Reference-T;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative G cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CTAAGGACGCAG CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAActaaggacgcagAGATCGAGACCCGACGC chr4:2053543-Alternative-G;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative G cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttct ACCGTCAGAATC CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAaccgtcagaatcAGATCGAGACCCGACGC chr4:2053543-Alternative-G;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative G cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GCGCAATAGCCA CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgcgcaatagccaAGATCGAGACCCGACGC chr4:2053543-Alternative-G;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative G cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttct CATCATCGCGCA CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAcatcatcgcgcaAGATCGAGACCCGACGC chr4:2053543-Alternative-G;Patient-25 chr4:2053543-TC Inherited Patient-25 intergenic 3.2e-05 0.00154 0.07 3.68 0.36 NAT8L 7695 Alternative G cactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttct GCGACTGACTTC CGACGCGGTCTCTCTCTcactaaaggggtctgccagaatgcaactttctgatgtttagctggctatgGtgagactctgtaaaagacatggacatctataaaggaaatctccatttctAGAGGGAGACGGACGTCTCAATAAgcgactgacttcAGATCGAGACCCGACGC chr4:2053543-Alternative-G;Patient-25 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative T gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg AGCGCAACGCTA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAagcgcaacgctaAGATCGAGACCCGACGC chr4:2071334-Alternative-T;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Reference G gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GTAATGCGGTCG CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgtaatgcggtcgAGATCGAGACCCGACGC chr4:2071334-Reference-G;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative T gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GTGCTCATAACA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgtgctcataacaAGATCGAGACCCGACGC chr4:2071334-Alternative-T;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative C gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GTGATATGGTCG CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgtgatatggtcgAGATCGAGACCCGACGC chr4:2071334-Alternative-C;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Reference G gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg ACCTTCGCTGCA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAaccttcgctgcaAGATCGAGACCCGACGC chr4:2071334-Reference-G;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Reference G gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GGCCATTGCGAA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAggccattgcgaaAGATCGAGACCCGACGC chr4:2071334-Reference-G;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Reference G gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CGACGGTTCGAT CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAcgacggttcgatAGATCGAGACCCGACGC chr4:2071334-Reference-G;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Reference G gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CGTCCATGGCTA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcGcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAcgtccatggctaAGATCGAGACCCGACGC chr4:2071334-Reference-G;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative C gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GCAACGATTCGC CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgcaacgattcgcAGATCGAGACCCGACGC chr4:2071334-Alternative-C;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative C gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GCGGTGTTAGCT CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgcggtgttagctAGATCGAGACCCGACGC chr4:2071334-Alternative-C;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative T gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CTGCTGTGAACG CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAActgctgtgaacgAGATCGAGACCCGACGC chr4:2071334-Alternative-T;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Variant A gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg AGTAGCGAGACA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAagtagcgagacaAGATCGAGACCCGACGC chr4:2071334-Variant-A;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative C gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GCGGCGACTATA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgcggcgactataAGATCGAGACCCGACGC chr4:2071334-Alternative-C;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative T gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CTAGATCGACTA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAActagatcgactaAGATCGAGACCCGACGC chr4:2071334-Alternative-T;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Variant A gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg AAGAAGTTCGAC CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAaagaagttcgacAGATCGAGACCCGACGC chr4:2071334-Variant-A;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative T gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg GCGCGAGATATC CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcTcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAgcgcgagatatcAGATCGAGACCCGACGC chr4:2071334-Alternative-T;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Variant A gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CTATCGTGTCTA CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAActatcgtgtctaAGATCGAGACCCGACGC chr4:2071334-Variant-A;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Variant A gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg AGAACGGAGGAC CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAagaacggaggacAGATCGAGACCCGACGC chr4:2071334-Variant-A;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Alternative C gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CGCAGTACGAAC CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcCcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAAcgcagtacgaacAGATCGAGACCCGACGC chr4:2071334-Alternative-C;Patient-103 chr4:2071334-GA DeNovo Patient-103 intergenic NA 0.000512821 -0.19 0.79 -2.66 NELFA 60371 Variant A gggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtg CTAGTTATGGAG CGACGCGGTCTCTCTCTgggttcccagttcctgtggttatgtcgacccttgccctggcagccccggcAcctgcctgcctggcccctcggaggaacagcggtgctgagggagggtgtgAGAGGGAGACGGACGTCTCAATAActagttatggagAGATCGAGACCCGACGC chr4:2071334-Variant-A;Patient-103 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative G cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GATAACACGTTC CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgataacacgttcAGATCGAGACCCGACGC chr4:2158463-Alternative-G;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative A cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CACAGACGGTTC CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcacagacggttcAGATCGAGACCCGACGC chr4:2158463-Alternative-A;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative A cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt ACGAGAATAAGG CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAacgagaataaggAGATCGAGACCCGACGC chr4:2158463-Alternative-A;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative G cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CAGCATAAGCGG CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcagcataagcggAGATCGAGACCCGACGC chr4:2158463-Alternative-G;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative A cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CGTCTAACGTAA CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcgtctaacgtaaAGATCGAGACCCGACGC chr4:2158463-Alternative-A;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative G cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CAGACTTCGATA CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcagacttcgataAGATCGAGACCCGACGC chr4:2158463-Alternative-G;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative G cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GCAGTACGGTCT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgcagtacggtctAGATCGAGACCCGACGC chr4:2158463-Alternative-G;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative G cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GTAGCCAAGCCA CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaGagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgtagccaagccaAGATCGAGACCCGACGC chr4:2158463-Alternative-G;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Reference T cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GGCTAATGAGCG CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAggctaatgagcgAGATCGAGACCCGACGC chr4:2158463-Reference-T;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Variant C cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt AGTACCGACGAT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAagtaccgacgatAGATCGAGACCCGACGC chr4:2158463-Variant-C;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Reference T cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GCAATCTTACGA CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgcaatcttacgaAGATCGAGACCCGACGC chr4:2158463-Reference-T;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative A cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CACGTGTGGTGT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcacgtgtggtgtAGATCGAGACCCGACGC chr4:2158463-Alternative-A;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Reference T cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt AATAATCCGCGT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAaataatccgcgtAGATCGAGACCCGACGC chr4:2158463-Reference-T;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Alternative A cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GTTAATGATCGG CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaAagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgttaatgatcggAGATCGAGACCCGACGC chr4:2158463-Alternative-A;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Reference T cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CTAAGACATCCA CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAActaagacatccaAGATCGAGACCCGACGC chr4:2158463-Reference-T;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Variant C cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GGTATTACGGTT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAggtattacggttAGATCGAGACCCGACGC chr4:2158463-Variant-C;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Reference T cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt GCCGCTTGCTAT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaTagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAgccgcttgctatAGATCGAGACCCGACGC chr4:2158463-Reference-T;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Variant C cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CATTCAATTCGC CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAcattcaattcgcAGATCGAGACCCGACGC chr4:2158463-Variant-C;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Variant C cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt ACAGCAGTGCAT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAAacagcagtgcatAGATCGAGACCCGACGC chr4:2158463-Variant-C;Patient-32 chr4:2158463-TC DeNovo Patient-32 intronic POLN NA 9.9e-05 -0.41 0.17 -8.61 POLN 72494 Variant C cttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaactt CTTGCGTGTCGT CGACGCGGTCTCTCTCTcttggaaacagaaagtgcacaggcaaacacatatggagaaaaaacttcaaCagcaaggcaggaaaatggcgtttaacaaagacagttgtttaaacaacttAGAGGGAGACGGACGTCTCAATAActtgcgtgtcgtAGATCGAGACCCGACGC chr4:2158463-Variant-C;Patient-32 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Variant G aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa AATGACACCGGC CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAaatgacaccggcAGATCGAGACCCGACGC chr4:24637933-Variant-G;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Variant G aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CTGCTTGGAACG CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAActgcttggaacgAGATCGAGACCCGACGC chr4:24637933-Variant-G;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative T aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa ACAACCGTAACG CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAacaaccgtaacgAGATCGAGACCCGACGC chr4:24637933-Alternative-T;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Variant G aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa AGGCAAGCGGTT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAaggcaagcggttAGATCGAGACCCGACGC chr4:24637933-Variant-G;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Variant G aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa ATCGATACGCTA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAatcgatacgctaAGATCGAGACCCGACGC chr4:24637933-Variant-G;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Variant G aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa AGCTCGTCATAA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaGacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAagctcgtcataaAGATCGAGACCCGACGC chr4:24637933-Variant-G;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative T aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GATTGGAACGAT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgattggaacgatAGATCGAGACCCGACGC chr4:24637933-Alternative-T;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Reference A aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CATAGACGCATC CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAcatagacgcatcAGATCGAGACCCGACGC chr4:24637933-Reference-A;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative T aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CTTGCGAGAGAT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAActtgcgagagatAGATCGAGACCCGACGC chr4:24637933-Alternative-T;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative C aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GATAATTGGCGT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgataattggcgtAGATCGAGACCCGACGC chr4:24637933-Alternative-C;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Reference A aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CGTAGTCTTGTT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAcgtagtcttgttAGATCGAGACCCGACGC chr4:24637933-Reference-A;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative T aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CTAGAACGCTTA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAActagaacgcttaAGATCGAGACCCGACGC chr4:24637933-Alternative-T;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative C aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GAGATACAACGT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgagatacaacgtAGATCGAGACCCGACGC chr4:24637933-Alternative-C;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative C aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GGTGAATACGCG CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAggtgaatacgcgAGATCGAGACCCGACGC chr4:24637933-Alternative-C;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Reference A aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GTGTTCGGCGAT CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgtgttcggcgatAGATCGAGACCCGACGC chr4:24637933-Reference-A;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Reference A aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CTCTACAGACGG CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAActctacagacggAGATCGAGACCCGACGC chr4:24637933-Reference-A;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative T aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GAAGATCGAACC CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaTacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgaagatcgaaccAGATCGAGACCCGACGC chr4:24637933-Alternative-T;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Reference A aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa GACTGACGATTA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaAacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAgactgacgattaAGATCGAGACCCGACGC chr4:24637933-Reference-A;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative C aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa CATCGGAACATA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAcatcggaacataAGATCGAGACCCGACGC chr4:24637933-Alternative-C;Patient-35 chr4:24637933-AG DeNovo Patient-35 intergenic NA 0.000513 -0.27 0.45 -2.11 DHX15 51748 Alternative C aagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaa ACAAGGACCATA CGACGCGGTCTCTCTCTaagagaaggatatggaaaagtatctattatgtccttaaatggaaaaaaaaCacccatcaggttcagaacagtggtataaattatcgtgtttattttttaaAGAGGGAGACGGACGTCTCAATAAacaaggaccataAGATCGAGACCCGACGC chr4:24637933-Alternative-C;Patient-35 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Variant G gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa GACGAGATGATT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAgacgagatgattAGATCGAGACCCGACGC chr4:24720176-Variant-G;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Variant G gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa GGTACCTGCGAT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAggtacctgcgatAGATCGAGACCCGACGC chr4:24720176-Variant-G;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Variant G gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa ATTACTGCCAAG CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAattactgccaagAGATCGAGACCCGACGC chr4:24720176-Variant-G;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Variant G gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa ATTCATCGACGA CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAattcatcgacgaAGATCGAGACCCGACGC chr4:24720176-Variant-G;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Reference A gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa AACTTCCGGATA CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAaacttccggataAGATCGAGACCCGACGC chr4:24720176-Reference-A;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Variant G gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa AATGGTTCGAAG CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaGaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAaatggttcgaagAGATCGAGACCCGACGC chr4:24720176-Variant-G;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative T gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa ACAGACGATTGC CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAacagacgattgcAGATCGAGACCCGACGC chr4:24720176-Alternative-T;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Reference A gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CTACAATTGGAC CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAActacaattggacAGATCGAGACCCGACGC chr4:24720176-Reference-A;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative C gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CGGACTTATTGT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcggacttattgtAGATCGAGACCCGACGC chr4:24720176-Alternative-C;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative T gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CGCATAACAGCG CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcgcataacagcgAGATCGAGACCCGACGC chr4:24720176-Alternative-T;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative T gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa GGAGATTCCACT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAggagattccactAGATCGAGACCCGACGC chr4:24720176-Alternative-T;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative C gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CGAAGTACTCAT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcgaagtactcatAGATCGAGACCCGACGC chr4:24720176-Alternative-C;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative T gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa ACAACAGCTAGA CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAacaacagctagaAGATCGAGACCCGACGC chr4:24720176-Alternative-T;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Reference A gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa AACGGCTGCCAT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAaacggctgccatAGATCGAGACCCGACGC chr4:24720176-Reference-A;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Reference A gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CGTATCGGAATT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcgtatcggaattAGATCGAGACCCGACGC chr4:24720176-Reference-A;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative T gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CATCAAGGTTGT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaTaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcatcaaggttgtAGATCGAGACCCGACGC chr4:24720176-Alternative-T;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Reference A gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa GGCGGACGATTA CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaAaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAggcggacgattaAGATCGAGACCCGACGC chr4:24720176-Reference-A;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative C gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa CAAGTCGAGATT CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAcaagtcgagattAGATCGAGACCCGACGC chr4:24720176-Alternative-C;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative C gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa AATCTCACACGA CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAaatctcacacgaAGATCGAGACCCGACGC chr4:24720176-Alternative-C;Patient-77 chr4:24720176-AG DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SOD3 76908 Alternative C gccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaa GGACACATCAGG CGACGCGGTCTCTCTCTgccctacagcctggggaatagagtgagactccatctcaaaaaaaaaaaaaCaaaaaaaaagaaaaaagaaatacctgagatgggtgatatataaagaaaaAGAGGGAGACGGACGTCTCAATAAggacacatcaggAGATCGAGACCCGACGC chr4:24720176-Alternative-C;Patient-77 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Variant C tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggag GATTGGACGCAG CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAgattggacgcagAGATCGAGACCCGACGC chr4:26334602-Variant-C;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Variant C tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggag ACCTTGCGTCGT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAaccttgcgtcgtAGATCGAGACCCGACGC chr4:26334602-Variant-C;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Variant C tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggag ACGTGGACAGAT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAacgtggacagatAGATCGAGACCCGACGC chr4:26334602-Variant-C;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Variant C tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggag CGATTGTGTCTT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcgattgtgtcttAGATCGAGACCCGACGC chr4:26334602-Variant-C;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative A tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggag CAATGTAAGTCG CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcaatgtaagtcgAGATCGAGACCCGACGC chr4:26334602-Alternative-A;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative A tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggag AATGGTAGATGC CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAaatggtagatgcAGATCGAGACCCGACGC chr4:26334602-Alternative-A;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Variant C tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggag GAGATCACACCG CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtCagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAgagatcacaccgAGATCGAGACCCGACGC chr4:26334602-Variant-C;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative A tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggag ATTGCGTCTGAA CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAattgcgtctgaaAGATCGAGACCCGACGC chr4:26334602-Alternative-A;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative A tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggag ATCATCGGAATC CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAatcatcggaatcAGATCGAGACCCGACGC chr4:26334602-Alternative-A;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Reference G tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggag CGTCTTGTCATA CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcgtcttgtcataAGATCGAGACCCGACGC chr4:26334602-Reference-G;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative T tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggag CTGCGACGTGAT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAActgcgacgtgatAGATCGAGACCCGACGC chr4:26334602-Alternative-T;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Reference G tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggag ACCGTATTGCCT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAaccgtattgcctAGATCGAGACCCGACGC chr4:26334602-Reference-G;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Reference G tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggag CTACCAAGGAGT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAActaccaaggagtAGATCGAGACCCGACGC chr4:26334602-Reference-G;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative T tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggag CACACGCTTGTC CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcacacgcttgtcAGATCGAGACCCGACGC chr4:26334602-Alternative-T;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative A tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggag GTTCATGGCGAC CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtAagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAgttcatggcgacAGATCGAGACCCGACGC chr4:26334602-Alternative-A;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Reference G tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggag ATACATGGCGCG CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAatacatggcgcgAGATCGAGACCCGACGC chr4:26334602-Reference-G;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Reference G tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggag GATGACTATGCT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtGagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAgatgactatgctAGATCGAGACCCGACGC chr4:26334602-Reference-G;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative T tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggag CAGTTGCTCGTC CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcagttgctcgtcAGATCGAGACCCGACGC chr4:26334602-Alternative-T;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative T tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggag CAACTGAATCGT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcaactgaatcgtAGATCGAGACCCGACGC chr4:26334602-Alternative-T;Patient-87 chr4:26334602-GC Inherited Patient-87 intronic RBPJ 3.2e-05 4.95e-05 0.14 4.97 0.7 RBPJ 13269 Alternative T tgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggag CGACTTCCGTGT CGACGCGGTCTCTCTCTtgagccaccatgcctggcctcaaaagttacttaagtatattgtgtaaagtTagccactatagtcttataccaggaaataatcactgttaacaattgggagAGAGGGAGACGGACGTCTCAATAAcgacttccgtgtAGATCGAGACCCGACGC chr4:26334602-Alternative-T;Patient-87 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative A agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatcc ACGATTCTGGCG CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAacgattctggcgAGATCGAGACCCGACGC chr4:2764477-Alternative-A;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative A agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatcc CTTGTCCTACTT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAActtgtcctacttAGATCGAGACCCGACGC chr4:2764477-Alternative-A;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative A agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatcc ATTCTGTACCGT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAattctgtaccgtAGATCGAGACCCGACGC chr4:2764477-Alternative-A;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative A agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatcc ACTTACGACGCG CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAacttacgacgcgAGATCGAGACCCGACGC chr4:2764477-Alternative-A;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Reference C agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GCGATTGAGGAC CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgcgattgaggacAGATCGAGACCCGACGC chr4:2764477-Reference-C;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Reference C agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatcc AATAGACGGTGT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAaatagacggtgtAGATCGAGACCCGACGC chr4:2764477-Reference-C;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Reference C agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GATGACGCATAA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgatgacgcataaAGATCGAGACCCGACGC chr4:2764477-Reference-C;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative A agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatcc AAGATAGTACGG CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcAtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAaagatagtacggAGATCGAGACCCGACGC chr4:2764477-Alternative-A;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative T agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GGTACGCACGTT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAggtacgcacgttAGATCGAGACCCGACGC chr4:2764477-Alternative-T;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Reference C agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GCATCCGAACGA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgcatccgaacgaAGATCGAGACCCGACGC chr4:2764477-Reference-C;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Reference C agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GACTATCGCCAA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcCtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgactatcgccaaAGATCGAGACCCGACGC chr4:2764477-Reference-C;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative T agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatcc ACGAACCAGCGA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAacgaaccagcgaAGATCGAGACCCGACGC chr4:2764477-Alternative-T;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative T agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatcc CTTACACAACCA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAActtacacaaccaAGATCGAGACCCGACGC chr4:2764477-Alternative-T;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Variant G agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GGCACGCATGTT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAggcacgcatgttAGATCGAGACCCGACGC chr4:2764477-Variant-G;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Variant G agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatcc CTGGTCGAAGTC CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAActggtcgaagtcAGATCGAGACCCGACGC chr4:2764477-Variant-G;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Variant G agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GCCTGATTACTT CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgcctgattacttAGATCGAGACCCGACGC chr4:2764477-Variant-G;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Variant G agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatcc GACGGTTCGTAC CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAgacggttcgtacAGATCGAGACCCGACGC chr4:2764477-Variant-G;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative T agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatcc AATCACGGTCTA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAaatcacggtctaAGATCGAGACCCGACGC chr4:2764477-Alternative-T;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Variant G agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatcc AGATAGCCTGAA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcGtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAagatagcctgaaAGATCGAGACCCGACGC chr4:2764477-Variant-G;Patient-35 chr4:2764477-CG DeNovo Patient-35 intergenic 3.2e-05 0.000513 -0.25 0.51 0.05 TNIP2 6373 Alternative T agaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatcc CACGCGACCTAA CGACGCGGTCTCTCTCTagaacaaagcttccacaatgtggtaagggtaccccagcgggttgccgctcTtggctcgggcagccttcttttattctcttatctgaccccacccacatccAGAGGGAGACGGACGTCTCAATAAcacgcgacctaaAGATCGAGACCCGACGC chr4:2764477-Alternative-T;Patient-35 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Reference C gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AGTATACGCACG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAagtatacgcacgAGATCGAGACCCGACGC chr4:3102537-Reference-C;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Reference C gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc ACCGTATTCGGC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAaccgtattcggcAGATCGAGACCCGACGC chr4:3102537-Reference-C;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Reference C gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AAGAACGACCAT CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAaagaacgaccatAGATCGAGACCCGACGC chr4:3102537-Reference-C;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Reference C gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc CGGTATAGAATC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAcggtatagaatcAGATCGAGACCCGACGC chr4:3102537-Reference-C;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative G gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AGACCAAGAACC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAagaccaagaaccAGATCGAGACCCGACGC chr4:3102537-Alternative-G;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative G gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GATGCCTATCGG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAgatgcctatcggAGATCGAGACCCGACGC chr4:3102537-Alternative-G;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative G gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc CAATTGGATAGG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAcaattggataggAGATCGAGACCCGACGC chr4:3102537-Alternative-G;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Variant T gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc CATCGTGTACTT CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAcatcgtgtacttAGATCGAGACCCGACGC chr4:3102537-Variant-T;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Variant T gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GGTCGTCTACAG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAggtcgtctacagAGATCGAGACCCGACGC chr4:3102537-Variant-T;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Variant T gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GGACAGTTCGTC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAggacagttcgtcAGATCGAGACCCGACGC chr4:3102537-Variant-T;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative G gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GCGTGAGCTAAG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAgcgtgagctaagAGATCGAGACCCGACGC chr4:3102537-Alternative-G;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative G gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc ACGGCATCTATA CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcGttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAacggcatctataAGATCGAGACCCGACGC chr4:3102537-Alternative-G;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative A gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc ATAACGTCTACG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAataacgtctacgAGATCGAGACCCGACGC chr4:3102537-Alternative-A;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Variant T gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AACCACAGACGG CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAaaccacagacggAGATCGAGACCCGACGC chr4:3102537-Variant-T;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Variant T gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GAGAGCGACTGA CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcTttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAgagagcgactgaAGATCGAGACCCGACGC chr4:3102537-Variant-T;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative A gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AACGATTGCGGC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAaacgattgcggcAGATCGAGACCCGACGC chr4:3102537-Alternative-A;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative A gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc CTGAGTGCCAGT CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAActgagtgccagtAGATCGAGACCCGACGC chr4:3102537-Alternative-A;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Reference C gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc ACGAGCGTTAGA CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcCttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAacgagcgttagaAGATCGAGACCCGACGC chr4:3102537-Reference-C;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative A gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc AGCGCCACTATC CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAagcgccactatcAGATCGAGACCCGACGC chr4:3102537-Alternative-A;Patient-30 chr4:3102537-CT Inherited Patient-30 intronic HTT 0.000541 9.9e-05 NA NA NA HTT 26128 Alternative A gctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagc GCGACGTATACT CGACGCGGTCTCTCTCTgctcagtcacccaggctggagtgcagtggctgatcacggctcattgcagcAttgagctaccgggctcaagctatcctcctggcttggccccttgagtagcAGAGGGAGACGGACGTCTCAATAAgcgacgtatactAGATCGAGACCCGACGC chr4:3102537-Alternative-A;Patient-30 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Variant T tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc GTGCTTATACCA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAgtgcttataccaAGATCGAGACCCGACGC chr4:3144997-Variant-T;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Variant T tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CAACCGTTCGAC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcaaccgttcgacAGATCGAGACCCGACGC chr4:3144997-Variant-T;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Reference C tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CGGACGGTTCAT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcggacggttcatAGATCGAGACCCGACGC chr4:3144997-Reference-C;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Reference C tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CACAACGGTACA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcacaacggtacaAGATCGAGACCCGACGC chr4:3144997-Reference-C;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Reference C tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc ACGTTGAGTATC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAacgttgagtatcAGATCGAGACCCGACGC chr4:3144997-Reference-C;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Reference C tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc AGGCTTACTCTT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaggcttactcttAGATCGAGACCCGACGC chr4:3144997-Reference-C;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative G tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CTCGTAGCATTC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAActcgtagcattcAGATCGAGACCCGACGC chr4:3144997-Alternative-G;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Variant T tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CGGCTATCCTTC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcggctatccttcAGATCGAGACCCGACGC chr4:3144997-Variant-T;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Variant T tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc ACCGATTCGAAT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaccgattcgaatAGATCGAGACCCGACGC chr4:3144997-Variant-T;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative G tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CGAGAGATCCGA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcgagagatccgaAGATCGAGACCCGACGC chr4:3144997-Alternative-G;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative A tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc AACCGTCTTCTT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaaccgtcttcttAGATCGAGACCCGACGC chr4:3144997-Alternative-A;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Reference C tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc GTTACGTTCGAA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctCtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAgttacgttcgaaAGATCGAGACCCGACGC chr4:3144997-Reference-C;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative A tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc ACCGCCGGTTAT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaccgccggttatAGATCGAGACCCGACGC chr4:3144997-Alternative-A;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative A tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CTAGCGTTCGCA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAActagcgttcgcaAGATCGAGACCCGACGC chr4:3144997-Alternative-A;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative G tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc CGCTATATTCGC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAcgctatattcgcAGATCGAGACCCGACGC chr4:3144997-Alternative-G;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Variant T tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc AAGACGAATGCA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctTtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaagacgaatgcaAGATCGAGACCCGACGC chr4:3144997-Variant-T;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative A tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc AACTTAGACCGT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAaacttagaccgtAGATCGAGACCCGACGC chr4:3144997-Alternative-A;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative G tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc GGCAATTACGCA CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAggcaattacgcaAGATCGAGACCCGACGC chr4:3144997-Alternative-G;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative G tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc ACGTGAATAGGT CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctGtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAacgtgaataggtAGATCGAGACCCGACGC chr4:3144997-Alternative-G;Patient-59 chr4:3144997-CT DeNovo Patient-59 intronic HTT NA 4.95e-05 -0.32 0.31 -0.43 HTT 68588 Alternative A tgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatc GCAATCCTCGTC CGACGCGGTCTCTCTCTtgaggtcaggagtcggataccagcctggccaacgtggtgaaaccccatctAtactaaaaatacaaaaattagctgggcgtggtggcgggcgcctgtaatcAGAGGGAGACGGACGTCTCAATAAgcaatcctcgtcAGATCGAGACCCGACGC chr4:3144997-Alternative-A;Patient-59 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative T attcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccg ATTCCGCTCAGT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAattccgctcagtAGATCGAGACCCGACGC chr4:3491988-Alternative-T;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative T attcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccg AGTACGCAACTA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAagtacgcaactaAGATCGAGACCCGACGC chr4:3491988-Alternative-T;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative T attcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccg ACAACGATCCGT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAacaacgatccgtAGATCGAGACCCGACGC chr4:3491988-Alternative-T;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative G attcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccg AGCACGAGATGA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAagcacgagatgaAGATCGAGACCCGACGC chr4:3491988-Alternative-G;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative T attcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccg GATAGCGCGAAG CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAgatagcgcgaagAGATCGAGACCCGACGC chr4:3491988-Alternative-T;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative T attcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccg AAGTCTCGTAAC CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattTattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAaagtctcgtaacAGATCGAGACCCGACGC chr4:3491988-Alternative-T;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Variant A attcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccg CGTCGGACTCAT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAcgtcggactcatAGATCGAGACCCGACGC chr4:3491988-Variant-A;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Variant A attcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccg AATAGTACGCAG CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAaatagtacgcagAGATCGAGACCCGACGC chr4:3491988-Variant-A;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Reference C attcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccg CAACGTGAATGA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAcaacgtgaatgaAGATCGAGACCCGACGC chr4:3491988-Reference-C;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Variant A attcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccg CTAACTAACCGA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAActaactaaccgaAGATCGAGACCCGACGC chr4:3491988-Variant-A;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Variant A attcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccg GCAACTGGCGAT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAgcaactggcgatAGATCGAGACCCGACGC chr4:3491988-Variant-A;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Reference C attcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccg GGTAGTATGCTA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAggtagtatgctaAGATCGAGACCCGACGC chr4:3491988-Reference-C;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Variant A attcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccg ATACCAAGCGGC CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattAattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAataccaagcggcAGATCGAGACCCGACGC chr4:3491988-Variant-A;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Reference C attcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccg AGCTGACCTCAA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAagctgacctcaaAGATCGAGACCCGACGC chr4:3491988-Reference-C;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Reference C attcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccg CTATGTACTGCT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAActatgtactgctAGATCGAGACCCGACGC chr4:3491988-Reference-C;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Reference C attcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccg CATGTCGGACGT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattCattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAcatgtcggacgtAGATCGAGACCCGACGC chr4:3491988-Reference-C;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative G attcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccg GTGCGATCATAT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAgtgcgatcatatAGATCGAGACCCGACGC chr4:3491988-Alternative-G;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative G attcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccg GATTGCTCGACG CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAgattgctcgacgAGATCGAGACCCGACGC chr4:3491988-Alternative-G;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative G attcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccg CGTTCAGCTTAT CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAcgttcagcttatAGATCGAGACCCGACGC chr4:3491988-Alternative-G;Patient-26 chr4:3491988-CA DeNovo Patient-26 intronic DOK7 NA 0.000787 -0.19 0.77 -0.53 DOK7 26949 Alternative G attcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccg CATAGCGTTCAA CGACGCGGTCTCTCTCTattcctgtcttcaccccctcattcattccttccttttctccctgctcattGattccttccttccccaccttgctcattcatttcttcctccgcccccccgAGAGGGAGACGGACGTCTCAATAAcatagcgttcaaAGATCGAGACCCGACGC chr4:3491988-Alternative-G;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Variant T gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGTTGAGGCCGT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagttgaggccgtAGATCGAGACCCGACGC chr4:3599046-Variant-T;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative A gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt GCCGTGACGATT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAgccgtgacgattAGATCGAGACCCGACGC chr4:3599046-Alternative-A;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Variant T gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AATCTCGACTGA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAaatctcgactgaAGATCGAGACCCGACGC chr4:3599046-Variant-T;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Variant T gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt GTCGTAATGCGG CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAgtcgtaatgcggAGATCGAGACCCGACGC chr4:3599046-Variant-T;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative A gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CAAGACCAATGA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAcaagaccaatgaAGATCGAGACCCGACGC chr4:3599046-Alternative-A;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Variant T gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGTAGTAATCGC CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagtagtaatcgcAGATCGAGACCCGACGC chr4:3599046-Variant-T;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Variant T gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CAGCTATAGCCA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgTgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAcagctatagccaAGATCGAGACCCGACGC chr4:3599046-Variant-T;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative G gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CAATGTCACGGT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAcaatgtcacggtAGATCGAGACCCGACGC chr4:3599046-Alternative-G;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative A gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CTACCGTTGCTA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAActaccgttgctaAGATCGAGACCCGACGC chr4:3599046-Alternative-A;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative A gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt ATCGAGCGTCGT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAatcgagcgtcgtAGATCGAGACCCGACGC chr4:3599046-Alternative-A;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Reference C gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGCGTGTTCTAA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagcgtgttctaaAGATCGAGACCCGACGC chr4:3599046-Reference-C;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative A gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CGCACTACGCAA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgAgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAcgcactacgcaaAGATCGAGACCCGACGC chr4:3599046-Alternative-A;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Reference C gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGCAAGTTCAAG CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagcaagttcaagAGATCGAGACCCGACGC chr4:3599046-Reference-C;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative G gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGTGTTATCCGT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagtgttatccgtAGATCGAGACCCGACGC chr4:3599046-Alternative-G;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Reference C gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt AGCAACGGATTA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAagcaacggattaAGATCGAGACCCGACGC chr4:3599046-Reference-C;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Reference C gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt GTCTCGACACGA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAgtctcgacacgaAGATCGAGACCCGACGC chr4:3599046-Reference-C;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Reference C gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt GCGTAGTGAGCT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgCgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAgcgtagtgagctAGATCGAGACCCGACGC chr4:3599046-Reference-C;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative G gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt ACAGCTATCACT CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAacagctatcactAGATCGAGACCCGACGC chr4:3599046-Alternative-G;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative G gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt CATGTCTGTGAA CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAcatgtctgtgaaAGATCGAGACCCGACGC chr4:3599046-Alternative-G;Patient-26 chr4:3599046-CT DeNovo Patient-26 intergenic 0.000255 0.000513 -0.32 0.31 -0.4 LRPAP1 64821 Alternative G gtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgt GGATGTATGGCG CGACGCGGTCTCTCTCTgtccaggaggagcctgtggggtggaggaggctggcgggggggtcaccttgGgaggggcaggccgcagacacctcaagagccaagctgagggtcaagctgtAGAGGGAGACGGACGTCTCAATAAggatgtatggcgAGATCGAGACCCGACGC chr4:3599046-Alternative-G;Patient-26 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative C ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GAGTATGCAAGA CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgagtatgcaagaAGATCGAGACCCGACGC chr4:3715788-Alternative-C;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Reference A ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GGCGGTATGGAT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAggcggtatggatAGATCGAGACCCGACGC chr4:3715788-Reference-A;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Reference A ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GTGTTAGTAAGG CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgtgttagtaaggAGATCGAGACCCGACGC chr4:3715788-Reference-A;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Reference A ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GATAGTGGTTCT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgatagtggttctAGATCGAGACCCGACGC chr4:3715788-Reference-A;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative C ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CGTCAGATCGAC CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAcgtcagatcgacAGATCGAGACCCGACGC chr4:3715788-Alternative-C;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative C ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc ACTCTACTACGT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAactctactacgtAGATCGAGACCCGACGC chr4:3715788-Alternative-C;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Reference A ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc AAGTCTACACCT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAaagtctacacctAGATCGAGACCCGACGC chr4:3715788-Reference-A;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative C ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc AGGCTCTAAGAA CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAaggctctaagaaAGATCGAGACCCGACGC chr4:3715788-Alternative-C;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative C ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GCATTCAGATAC CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaCtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgcattcagatacAGATCGAGACCCGACGC chr4:3715788-Alternative-C;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative T ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GAGCACACGAAG CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgagcacacgaagAGATCGAGACCCGACGC chr4:3715788-Alternative-T;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Reference A ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CGAGTAATGCTT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaAtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAcgagtaatgcttAGATCGAGACCCGACGC chr4:3715788-Reference-A;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative T ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GCGAGTTAACTT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgcgagttaacttAGATCGAGACCCGACGC chr4:3715788-Alternative-T;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative T ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc ACGCCTATCAAG CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAacgcctatcaagAGATCGAGACCCGACGC chr4:3715788-Alternative-T;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative T ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CAGCAACCTAAT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAcagcaacctaatAGATCGAGACCCGACGC chr4:3715788-Alternative-T;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Alternative T ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CTCGGCTTATTA CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaTtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAActcggcttattaAGATCGAGACCCGACGC chr4:3715788-Alternative-T;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Variant G ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CAACGCATGACT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAcaacgcatgactAGATCGAGACCCGACGC chr4:3715788-Variant-G;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Variant G ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GGCAGTATACTT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAggcagtatacttAGATCGAGACCCGACGC chr4:3715788-Variant-G;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Variant G ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc CGTACCGTCGAA CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAcgtaccgtcgaaAGATCGAGACCCGACGC chr4:3715788-Variant-G;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Variant G ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc AGCCAGGCATGA CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAagccaggcatgaAGATCGAGACCCGACGC chr4:3715788-Variant-G;Patient-82 chr4:3715788-AG DeNovo Patient-82 intergenic 0.000318 0.001025641 0.1 4.28 0.91 ADRA2C 52507 Variant G ggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagc GCGTCGGCTAAT CGACGCGGTCTCTCTCTggcacgctgtgtgactccagcacaaaccccagcacccctgggatcagcaaGtggcaggaatgactgctccagcagtgagagctgaggccggggtcacagcAGAGGGAGACGGACGTCTCAATAAgcgtcggctaatAGATCGAGACCCGACGC chr4:3715788-Variant-G;Patient-82 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Variant G gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatat AGATCGTACGAA CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAagatcgtacgaaAGATCGAGACCCGACGC chr4:38772706-Variant-G;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative A gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatat GTTGGATTACCA CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAgttggattaccaAGATCGAGACCCGACGC chr4:38772706-Alternative-A;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative A gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatat GGAATTGGTCTT CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAggaattggtcttAGATCGAGACCCGACGC chr4:38772706-Alternative-A;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Variant G gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatat CGTCGCTTAGTC CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAcgtcgcttagtcAGATCGAGACCCGACGC chr4:38772706-Variant-G;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Reference T gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatat GTAAGTCGCGAG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAgtaagtcgcgagAGATCGAGACCCGACGC chr4:38772706-Reference-T;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Reference T gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatat AACCATGGAGCG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAaaccatggagcgAGATCGAGACCCGACGC chr4:38772706-Reference-T;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Variant G gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatat CTTAGTGGATGT CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAActtagtggatgtAGATCGAGACCCGACGC chr4:38772706-Variant-G;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Reference T gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatat AGGTACCGACGA CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAaggtaccgacgaAGATCGAGACCCGACGC chr4:38772706-Reference-T;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Reference T gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatat GTGTCGAAGTTA CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAgtgtcgaagttaAGATCGAGACCCGACGC chr4:38772706-Reference-T;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Reference T gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatat AGTAGTACGGCG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataTatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAagtagtacggcgAGATCGAGACCCGACGC chr4:38772706-Reference-T;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative A gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatat ATCGGCCAAGTC CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAatcggccaagtcAGATCGAGACCCGACGC chr4:38772706-Alternative-A;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Variant G gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatat AGTGCGGCTGTT CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAagtgcggctgttAGATCGAGACCCGACGC chr4:38772706-Variant-G;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative C gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatat CGTCAAGCAATC CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAcgtcaagcaatcAGATCGAGACCCGACGC chr4:38772706-Alternative-C;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative A gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatat CGTTACGCTTCG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAcgttacgcttcgAGATCGAGACCCGACGC chr4:38772706-Alternative-A;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative C gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatat AACGCCTAATCG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAaacgcctaatcgAGATCGAGACCCGACGC chr4:38772706-Alternative-C;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative A gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatat ATAGGTGCGTCT CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataAatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAataggtgcgtctAGATCGAGACCCGACGC chr4:38772706-Alternative-A;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative C gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatat GCGTCAGAAGCT CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAgcgtcagaagctAGATCGAGACCCGACGC chr4:38772706-Alternative-C;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative C gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatat GAGCTAGCAATC CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAgagctagcaatcAGATCGAGACCCGACGC chr4:38772706-Alternative-C;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Variant G gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatat AGTATCGCAGAA CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataGatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAAagtatcgcagaaAGATCGAGACCCGACGC chr4:38772706-Variant-G;Patient-71 chr4:38772706-TG DeNovo Patient-71 intergenic NA 0.000512821 -0.12 1.23 0 TLR1 33705 Alternative C gtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatat CTTAAGTGACCG CGACGCGGTCTCTCTCTgtgttgacccacacaattacaaggtcccacaatagaccttgcaatatataCatatagatatagatatagatatagatatagtattgtgtgatatatatatAGAGGGAGACGGACGTCTCAATAActtaagtgaccgAGATCGAGACCCGACGC chr4:38772706-Alternative-C;Patient-71 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Reference G agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg AGTCCGCGTACT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAagtccgcgtactAGATCGAGACCCGACGC chr4:40260723-Reference-G;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative T agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg CGTTCCGTCTTC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAcgttccgtcttcAGATCGAGACCCGACGC chr4:40260723-Alternative-T;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative T agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GGTCACTAGAAG CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAggtcactagaagAGATCGAGACCCGACGC chr4:40260723-Alternative-T;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative T agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg AAGCGGCCAAGT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAaagcggccaagtAGATCGAGACCCGACGC chr4:40260723-Alternative-T;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Reference G agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg CGGTAACTCTAT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAcggtaactctatAGATCGAGACCCGACGC chr4:40260723-Reference-G;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Variant A agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg AGCTCTGGCGTT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAagctctggcgttAGATCGAGACCCGACGC chr4:40260723-Variant-A;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Reference G agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GCAAGAACCGAC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAgcaagaaccgacAGATCGAGACCCGACGC chr4:40260723-Reference-G;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative T agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GTATATGCTGAC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAgtatatgctgacAGATCGAGACCCGACGC chr4:40260723-Alternative-T;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative T agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg ACTCTACGCAGA CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaTgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAactctacgcagaAGATCGAGACCCGACGC chr4:40260723-Alternative-T;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Variant A agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg AGTTGGTTCGCG CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAagttggttcgcgAGATCGAGACCCGACGC chr4:40260723-Variant-A;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Reference G agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GTGACGGTACTA CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAgtgacggtactaAGATCGAGACCCGACGC chr4:40260723-Reference-G;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Variant A agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GGTCTGAACCGT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAggtctgaaccgtAGATCGAGACCCGACGC chr4:40260723-Variant-A;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Variant A agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg CGATCTTCGTGC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAcgatcttcgtgcAGATCGAGACCCGACGC chr4:40260723-Variant-A;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Reference G agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg CGGTCATTCGGT CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaGgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAcggtcattcggtAGATCGAGACCCGACGC chr4:40260723-Reference-G;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative C agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GGTTCATCCGTC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAggttcatccgtcAGATCGAGACCCGACGC chr4:40260723-Alternative-C;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative C agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg ACGAGATTAGCA CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAacgagattagcaAGATCGAGACCCGACGC chr4:40260723-Alternative-C;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Variant A agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg ATCGACTATGAG CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaAgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAatcgactatgagAGATCGAGACCCGACGC chr4:40260723-Variant-A;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative C agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg AGAGCCTTCGAC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAagagccttcgacAGATCGAGACCCGACGC chr4:40260723-Alternative-C;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative C agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GATGTTGCGGAC CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAgatgttgcggacAGATCGAGACCCGACGC chr4:40260723-Alternative-C;Patient-49 chr4:40260723-GA Inherited Patient-49 intergenic NA 0.000512821 0.07 3.79 0 RHOH 68091 Alternative C agctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatg GAGCAGTCTTCG CGACGCGGTCTCTCTCTagctgggcacagtggctcacgcctgtaatcacagcactttgggaggccgaCgcaggcagatcaaggggttcaagagatcaagaccatcctggccaacatgAGAGGGAGACGGACGTCTCAATAAgagcagtcttcgAGATCGAGACCCGACGC chr4:40260723-Alternative-C;Patient-49 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative T cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt CGCTATGTGCGT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAcgctatgtgcgtAGATCGAGACCCGACGC chr4:402952-Alternative-T;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative T cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt AGGAGGATTATC CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAaggaggattatcAGATCGAGACCCGACGC chr4:402952-Alternative-T;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Variant G cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt AGTACGACGGCA CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAagtacgacggcaAGATCGAGACCCGACGC chr4:402952-Variant-G;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative T cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt GCCGGACGAATT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAgccggacgaattAGATCGAGACCCGACGC chr4:402952-Alternative-T;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative T cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt ACTGGTGCGAAC CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAactggtgcgaacAGATCGAGACCCGACGC chr4:402952-Alternative-T;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Reference A cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt AAGATGTCGGCG CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAaagatgtcggcgAGATCGAGACCCGACGC chr4:402952-Reference-A;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Variant G cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt ACGATATGACCT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAacgatatgacctAGATCGAGACCCGACGC chr4:402952-Variant-G;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Variant G cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt CGGACCTAAGTC CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAcggacctaagtcAGATCGAGACCCGACGC chr4:402952-Variant-G;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Variant G cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt GCGAATTCGATA CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAgcgaattcgataAGATCGAGACCCGACGC chr4:402952-Variant-G;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Variant G cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt AACTTAACGCGT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaGatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAaacttaacgcgtAGATCGAGACCCGACGC chr4:402952-Variant-G;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative T cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt ACAGAGCGACTT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaTatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAacagagcgacttAGATCGAGACCCGACGC chr4:402952-Alternative-T;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Reference A cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt GGCAAGTAGTAC CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAggcaagtagtacAGATCGAGACCCGACGC chr4:402952-Reference-A;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative C cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt AGGTGAACATCA CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAaggtgaacatcaAGATCGAGACCCGACGC chr4:402952-Alternative-C;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative C cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt CGTACGCTCGTT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAcgtacgctcgttAGATCGAGACCCGACGC chr4:402952-Alternative-C;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative C cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt CTTGTAAGGCGG CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAActtgtaaggcggAGATCGAGACCCGACGC chr4:402952-Alternative-C;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Reference A cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt ACACTTAGGACG CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAacacttaggacgAGATCGAGACCCGACGC chr4:402952-Reference-A;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative C cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt GATCGCAAGCCA CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAgatcgcaagccaAGATCGAGACCCGACGC chr4:402952-Alternative-C;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Alternative C cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt ATCGATGTGGTT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaCatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAatcgatgtggttAGATCGAGACCCGACGC chr4:402952-Alternative-C;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Reference A cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt GCGCAACGTTAT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAAgcgcaacgttatAGATCGAGACCCGACGC chr4:402952-Reference-A;Patient-54 chr4:402952-AG Inherited Patient-54 intergenic 3.2e-05 0.000513 0.23 6.33 0.13 PIGG 90036 Reference A cttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgt CTTATGTGCTGT CGACGCGGTCTCTCTCTcttcttaagggttgggggagaatatatcagttagggtgggggcaggaacaAatcacaatgatggaatgtcatcagttaaggctattttcacttcttttgtAGAGGGAGACGGACGTCTCAATAActtatgtgctgtAGATCGAGACCCGACGC chr4:402952-Reference-A;Patient-54 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Variant C ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CTAGGTCGACGT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAActaggtcgacgtAGATCGAGACCCGACGC chr4:42901337-Variant-C;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Variant C ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GCGTATAATCGT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgcgtataatcgtAGATCGAGACCCGACGC chr4:42901337-Variant-C;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Variant C ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggac AAGATGGTAGCT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAaagatggtagctAGATCGAGACCCGACGC chr4:42901337-Variant-C;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative G ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GCGGTTAGATGG CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgcggttagatggAGATCGAGACCCGACGC chr4:42901337-Alternative-G;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative T ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GCACGTAAGTAA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgcacgtaagtaaAGATCGAGACCCGACGC chr4:42901337-Alternative-T;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative G ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GCAGCGCTGTTA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgcagcgctgttaAGATCGAGACCCGACGC chr4:42901337-Alternative-G;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative T ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CACGTGGTCTTC CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcacgtggtcttcAGATCGAGACCCGACGC chr4:42901337-Alternative-T;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative G ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CTTAGTGGCCGA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAActtagtggccgaAGATCGAGACCCGACGC chr4:42901337-Alternative-G;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative G ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GCCTGACCTCAT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgcctgacctcatAGATCGAGACCCGACGC chr4:42901337-Alternative-G;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative G ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CGAATTGATGCT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaGatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcgaattgatgctAGATCGAGACCCGACGC chr4:42901337-Alternative-G;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative T ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GATAGGTCGGCA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgataggtcggcaAGATCGAGACCCGACGC chr4:42901337-Alternative-T;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative T ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GTGCCGGTTAGT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgtgccggttagtAGATCGAGACCCGACGC chr4:42901337-Alternative-T;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Reference A ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggac AGCCGCAGCTAT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAagccgcagctatAGATCGAGACCCGACGC chr4:42901337-Reference-A;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Alternative T ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CATTAAGACGCT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaTatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcattaagacgctAGATCGAGACCCGACGC chr4:42901337-Alternative-T;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Reference A ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CACACGGACTTC CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcacacggacttcAGATCGAGACCCGACGC chr4:42901337-Reference-A;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Variant C ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GGACGGTAGGTT CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAggacggtaggttAGATCGAGACCCGACGC chr4:42901337-Variant-C;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Reference A ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CACGGATAGTGG CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcacggatagtggAGATCGAGACCCGACGC chr4:42901337-Reference-A;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Reference A ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggac AGCTTCGGTACA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAagcttcggtacaAGATCGAGACCCGACGC chr4:42901337-Reference-A;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Variant C ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggac GTGCCGCTCTTA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaCatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAgtgccgctcttaAGATCGAGACCCGACGC chr4:42901337-Variant-C;Patient-59 chr4:42901337-AC DeNovo Patient-59 intronic GRXCR1 NA 4.95e-05 -0.13 1.15 -3.81 GRXCR1 6053 Reference A ttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggac CAAGCAGTCGCA CGACGCGGTCTCTCTCTttcaatcattcattaataactatttactgcatatctaccgtgagacaaaaAatatgttagataatgtgaggactaaaacccaattcctgccttcatggacAGAGGGAGACGGACGTCTCAATAAcaagcagtcgcaAGATCGAGACCCGACGC chr4:42901337-Reference-A;Patient-59 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Variant G atatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttc ATCGTACGACTA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAatcgtacgactaAGATCGAGACCCGACGC chr4:46079878-Variant-G;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Variant G atatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttc GATCAGCTTAGT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAgatcagcttagtAGATCGAGACCCGACGC chr4:46079878-Variant-G;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Variant G atatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttc AGGAACGCGAAC CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAaggaacgcgaacAGATCGAGACCCGACGC chr4:46079878-Variant-G;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Variant G atatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttc GTGTAGATGCGC CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAgtgtagatgcgcAGATCGAGACCCGACGC chr4:46079878-Variant-G;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Variant G atatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttc GTTGGTTGGTAT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataGtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAgttggttggtatAGATCGAGACCCGACGC chr4:46079878-Variant-G;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Reference A atatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttc AGGTTGACAGCG CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAaggttgacagcgAGATCGAGACCCGACGC chr4:46079878-Reference-A;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative C atatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttc ACCGTGCTTCGT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAaccgtgcttcgtAGATCGAGACCCGACGC chr4:46079878-Alternative-C;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative T atatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttc GGTAGACGATGA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAggtagacgatgaAGATCGAGACCCGACGC chr4:46079878-Alternative-T;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative T atatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttc GTACTCCTACCA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAgtactcctaccaAGATCGAGACCCGACGC chr4:46079878-Alternative-T;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative T atatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttc AGTATTCGGCAT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAagtattcggcatAGATCGAGACCCGACGC chr4:46079878-Alternative-T;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative T atatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttc CATATGCTCCGC CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAcatatgctccgcAGATCGAGACCCGACGC chr4:46079878-Alternative-T;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Reference A atatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttc AGTTCTGGCGCT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAagttctggcgctAGATCGAGACCCGACGC chr4:46079878-Reference-A;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative T atatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttc GGTTCCGTCTGT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataTtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAggttccgtctgtAGATCGAGACCCGACGC chr4:46079878-Alternative-T;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative C atatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttc ATCTGGCTCTTA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAatctggctcttaAGATCGAGACCCGACGC chr4:46079878-Alternative-C;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Reference A atatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttc AGGCCAACACCA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAaggccaacaccaAGATCGAGACCCGACGC chr4:46079878-Reference-A;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative C atatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttc ATCATCGCTTCT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAatcatcgcttctAGATCGAGACCCGACGC chr4:46079878-Alternative-C;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Reference A atatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttc ACAACCTACAGG CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAacaacctacaggAGATCGAGACCCGACGC chr4:46079878-Reference-A;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative C atatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttc AAGTGCGGAATT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAaagtgcggaattAGATCGAGACCCGACGC chr4:46079878-Alternative-C;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Reference A atatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttc ACTGCGAGATAA CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataAtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAactgcgagataaAGATCGAGACCCGACGC chr4:46079878-Reference-A;Patient-25 chr4:46079878-AG DeNovo Patient-25 intronic GABRG1 NA 4.95e-05 0.08 3.99 -1.23 GABRG1 46203 Alternative C atatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttc CACGTAGCTAAT CGACGCGGTCTCTCTCTatatacatataaaatgtgtatttgaattaagaaataaaattattttgataCtttttagagattctaaggttaatctaatttcctaatactaggaactttcAGAGGGAGACGGACGTCTCAATAAcacgtagctaatAGATCGAGACCCGACGC chr4:46079878-Alternative-C;Patient-25 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Variant C aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GCATCGGCGTAA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgcatcggcgtaaAGATCGAGACCCGACGC chr4:46164849-Variant-C;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Variant C aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CTCGGATAATCA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAActcggataatcaAGATCGAGACCCGACGC chr4:46164849-Variant-C;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Variant C aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GGAAGTGACGTC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAggaagtgacgtcAGATCGAGACCCGACGC chr4:46164849-Variant-C;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Variant C aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CGTGTAACAACC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAcgtgtaacaaccAGATCGAGACCCGACGC chr4:46164849-Variant-C;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Reference G aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GTACGCCTAACT CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgtacgcctaactAGATCGAGACCCGACGC chr4:46164849-Reference-G;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative T aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CAAGACGGCATT CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAcaagacggcattAGATCGAGACCCGACGC chr4:46164849-Alternative-T;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative T aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag ATCCGGTCTAAT CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAatccggtctaatAGATCGAGACCCGACGC chr4:46164849-Alternative-T;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Reference G aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GGCAGTTGATAA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAggcagttgataaAGATCGAGACCCGACGC chr4:46164849-Reference-G;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Reference G aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CATTAGGATTGC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAcattaggattgcAGATCGAGACCCGACGC chr4:46164849-Reference-G;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative A aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GCCGCTTCGTTA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgccgcttcgttaAGATCGAGACCCGACGC chr4:46164849-Alternative-A;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Reference G aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CTATGTCGGCAG CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAActatgtcggcagAGATCGAGACCCGACGC chr4:46164849-Reference-G;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative A aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GCAGACTTCCGA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgcagacttccgaAGATCGAGACCCGACGC chr4:46164849-Alternative-A;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative T aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag ACCTTGATGCGC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAaccttgatgcgcAGATCGAGACCCGACGC chr4:46164849-Alternative-T;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Variant C aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GCACGCCGAATT CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggCaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgcacgccgaattAGATCGAGACCCGACGC chr4:46164849-Variant-C;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative A aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GAATCTCGTGCG CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAgaatctcgtgcgAGATCGAGACCCGACGC chr4:46164849-Alternative-A;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative A aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag CTACGTGCGTAC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAActacgtgcgtacAGATCGAGACCCGACGC chr4:46164849-Alternative-A;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative T aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag ACTAGTTAGCCA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAactagttagccaAGATCGAGACCCGACGC chr4:46164849-Alternative-T;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative T aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag ATTGTGGTTCGC CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggTaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAattgtggttcgcAGATCGAGACCCGACGC chr4:46164849-Alternative-T;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Reference G aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag AATATGCCACCA CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggGaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAaatatgccaccaAGATCGAGACCCGACGC chr4:46164849-Reference-G;Patient-55 chr4:46164849-GC DeNovo Patient-55 intergenic NA 0.000512821 -0.05 1.95 -0.39 GABRG1 38766 Alternative A aaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccag GGCCGCGAATAT CGACGCGGTCTCTCTCTaaaagaaaatgaaaaggtgtagtggcccaagccttaatcacagcgtttggAaggccaaggtgggaggattgcttgagcccaggagttcaagaccagccagAGAGGGAGACGGACGTCTCAATAAggccgcgaatatAGATCGAGACCCGACGC chr4:46164849-Alternative-A;Patient-55 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative G aattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CGGAGCATGCTA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcggagcatgctaAGATCGAGACCCGACGC chr4:47117548-Alternative-G;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative G aattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CAGCGAACAGCA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcagcgaacagcaAGATCGAGACCCGACGC chr4:47117548-Alternative-G;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative G aattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgatt ATAGCGAGATAC CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAatagcgagatacAGATCGAGACCCGACGC chr4:47117548-Alternative-G;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Reference T aattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CGAGCATCAAGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcgagcatcaagaAGATCGAGACCCGACGC chr4:47117548-Reference-T;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Reference T aattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgatt AGTATTGTCCGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAagtattgtccgaAGATCGAGACCCGACGC chr4:47117548-Reference-T;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative A aattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CTATTCCTGCGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAActattcctgcgaAGATCGAGACCCGACGC chr4:47117548-Alternative-A;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Reference T aattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CGGTCTATATAC CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcggtctatatacAGATCGAGACCCGACGC chr4:47117548-Reference-T;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Reference T aattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CTCACCGATCAA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAActcaccgatcaaAGATCGAGACCCGACGC chr4:47117548-Reference-T;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative G aattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgatt ACCGACGGTAGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAaccgacggtagaAGATCGAGACCCGACGC chr4:47117548-Alternative-G;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Reference T aattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgatt GCGACAGAGATA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgTttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAgcgacagagataAGATCGAGACCCGACGC chr4:47117548-Reference-T;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative G aattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CGCACTAAGCGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgGttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcgcactaagcgaAGATCGAGACCCGACGC chr4:47117548-Alternative-G;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative A aattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgatt GTGACATGCGGT CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAgtgacatgcggtAGATCGAGACCCGACGC chr4:47117548-Alternative-A;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative A aattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CAATAGCAAGCA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcaatagcaagcaAGATCGAGACCCGACGC chr4:47117548-Alternative-A;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Variant C aattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CTTAGTAGGAGA CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAActtagtaggagaAGATCGAGACCCGACGC chr4:47117548-Variant-C;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative A aattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgatt ACATGCGTAACT CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAacatgcgtaactAGATCGAGACCCGACGC chr4:47117548-Alternative-A;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Alternative A aattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CGGATATACGGC CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgAttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcggatatacggcAGATCGAGACCCGACGC chr4:47117548-Alternative-A;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Variant C aattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgatt AAGGAGTCTAGT CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAaaggagtctagtAGATCGAGACCCGACGC chr4:47117548-Variant-C;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Variant C aattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgatt ACCTAAGGCACG CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAacctaaggcacgAGATCGAGACCCGACGC chr4:47117548-Variant-C;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Variant C aattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgatt CATTCTAACCGT CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAcattctaaccgtAGATCGAGACCCGACGC chr4:47117548-Variant-C;Patient-12 chr4:47117548-TC DeNovo Patient-12 intronic GABRB1 3.2e-05 4.95e-05 NA NA NA GABRB1 84170 Variant C aattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgatt GCATCAGTACGT CGACGCGGTCTCTCTCTaattgactttttatgattttttaaatataaaatcataaaaattactgttgCttaatgatatattcaacttatctttaaatcatggggaattaacttgattAGAGGGAGACGGACGTCTCAATAAgcatcagtacgtAGATCGAGACCCGACGC chr4:47117548-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Reference A gataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat GACGAACACAAT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAgacgaacacaatAGATCGAGACCCGACGC chr4:47130517-Reference-A;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Reference A gataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACGTTAGGACGG CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacgttaggacggAGATCGAGACCCGACGC chr4:47130517-Reference-A;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative G gataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat CGGAACGGACAT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAcggaacggacatAGATCGAGACCCGACGC chr4:47130517-Alternative-G;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative G gataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat CGTTACCACATT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAcgttaccacattAGATCGAGACCCGACGC chr4:47130517-Alternative-G;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative T gataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat GACCATCACTAT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAgaccatcactatAGATCGAGACCCGACGC chr4:47130517-Alternative-T;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative G gataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat GCGTTGGACACT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAgcgttggacactAGATCGAGACCCGACGC chr4:47130517-Alternative-G;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative G gataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat AGTAAGGCCATT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAagtaaggccattAGATCGAGACCCGACGC chr4:47130517-Alternative-G;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Variant C gataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat CAAGGTATCCGG CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAcaaggtatccggAGATCGAGACCCGACGC chr4:47130517-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Reference A gataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACGTCGTGGTGT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacgtcgtggtgtAGATCGAGACCCGACGC chr4:47130517-Reference-A;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Reference A gataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACAATGCGTGCG CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacaatgcgtgcgAGATCGAGACCCGACGC chr4:47130517-Reference-A;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative T gataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACGAGATCCGTC CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacgagatccgtcAGATCGAGACCCGACGC chr4:47130517-Alternative-T;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Variant C gataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACGAGATAATCG CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacgagataatcgAGATCGAGACCCGACGC chr4:47130517-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Variant C gataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ACACGCACCATA CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAacacgcaccataAGATCGAGACCCGACGC chr4:47130517-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Variant C gataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat AGAGCCTAAGGT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAagagcctaaggtAGATCGAGACCCGACGC chr4:47130517-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Variant C gataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat GCGTTACGCAGT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcCtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAgcgttacgcagtAGATCGAGACCCGACGC chr4:47130517-Variant-C;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Reference A gataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ATAGGATGTGGT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcAtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAataggatgtggtAGATCGAGACCCGACGC chr4:47130517-Reference-A;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative T gataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat GCGGCGAGTAAT CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAgcggcgagtaatAGATCGAGACCCGACGC chr4:47130517-Alternative-T;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative T gataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat CTGTTAGTGTTC CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAActgttagtgttcAGATCGAGACCCGACGC chr4:47130517-Alternative-T;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative T gataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat ATCTGTCTTCGA CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcTtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAatctgtcttcgaAGATCGAGACCCGACGC chr4:47130517-Alternative-T;Patient-12 chr4:47130517-AC DeNovo Patient-12 intronic GABRB1 0.00051 9.9e-05 NA NA NA GABRB1 97139 Alternative G gataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctat AATGCGATATCG CGACGCGGTCTCTCTCTgataagatacaaattattaatatcacagataaaaggaaagatattacttcGtgttaaaaacattatgctgaacagaagaagctagacacaaagactctatAGAGGGAGACGGACGTCTCAATAAaatgcgatatcgAGATCGAGACCCGACGC chr4:47130517-Alternative-G;Patient-12 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Reference A atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa GTTAGGATCACA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAgttaggatcacaAGATCGAGACCCGACGC chr4:47783117-Reference-A;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative T atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AAGGACGATAGA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAaaggacgatagaAGATCGAGACCCGACGC chr4:47783117-Alternative-T;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative C atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AGCAGCGGAACA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAagcagcggaacaAGATCGAGACCCGACGC chr4:47783117-Alternative-C;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Variant G atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa CGTTATGCTTGT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAcgttatgcttgtAGATCGAGACCCGACGC chr4:47783117-Variant-G;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Variant G atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa CACTATGGATAC CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAcactatggatacAGATCGAGACCCGACGC chr4:47783117-Variant-G;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Reference A atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AACAAGACGCTT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAaacaagacgcttAGATCGAGACCCGACGC chr4:47783117-Reference-A;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Variant G atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa CTAGCCTTAACT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAActagccttaactAGATCGAGACCCGACGC chr4:47783117-Variant-G;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Variant G atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AGTTGACTCCGG CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAagttgactccggAGATCGAGACCCGACGC chr4:47783117-Variant-G;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Reference A atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa GATACGGCTTCG CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAgatacggcttcgAGATCGAGACCCGACGC chr4:47783117-Reference-A;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative T atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AGTACGCTATCA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAagtacgctatcaAGATCGAGACCCGACGC chr4:47783117-Alternative-T;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative T atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AATCGAGGTAAC CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAaatcgaggtaacAGATCGAGACCCGACGC chr4:47783117-Alternative-T;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Variant G atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa GTACGGACATGG CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaGtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAgtacggacatggAGATCGAGACCCGACGC chr4:47783117-Variant-G;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Reference A atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AGACGTTCACAG CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAagacgttcacagAGATCGAGACCCGACGC chr4:47783117-Reference-A;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative T atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa GCGCGTAGATGA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAgcgcgtagatgaAGATCGAGACCCGACGC chr4:47783117-Alternative-T;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative T atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa ACCGACTGACAG CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaTtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAaccgactgacagAGATCGAGACCCGACGC chr4:47783117-Alternative-T;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative C atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa AATCGCGCGTGT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAaatcgcgcgtgtAGATCGAGACCCGACGC chr4:47783117-Alternative-C;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Reference A atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa GCATGTTGAGAA CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaAtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAgcatgttgagaaAGATCGAGACCCGACGC chr4:47783117-Reference-A;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative C atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa ACTGCGAGTCAC CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAactgcgagtcacAGATCGAGACCCGACGC chr4:47783117-Alternative-C;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative C atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa CGTAGAGCACGT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAcgtagagcacgtAGATCGAGACCCGACGC chr4:47783117-Alternative-C;Patient-104 chr4:47783117-AG DeNovo Patient-104 intronic CORIN NA 3.91e-05 1.02 13.41 0.5 CORIN 57005 Alternative C atagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaa ACACCAACGCTT CGACGCGGTCTCTCTCTatagcaaaatgacagaagtaggtcttcatcagtaattactttaaatattaCtggattaaattttttcaatcaaaagacagagattggcagaatgggttaaAGAGGGAGACGGACGTCTCAATAAacaccaacgcttAGATCGAGACCCGACGC chr4:47783117-Alternative-C;Patient-104 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Variant C caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACTCGGAGCGAA CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAactcggagcgaaAGATCGAGACCCGACGC chr4:47979172-Variant-C;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Variant C caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa AACGTAACATCG CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAaacgtaacatcgAGATCGAGACCCGACGC chr4:47979172-Variant-C;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative A caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa CGTCGAGTATAT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAcgtcgagtatatAGATCGAGACCCGACGC chr4:47979172-Alternative-A;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Variant C caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa AGGCTCTGCCAA CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAaggctctgccaaAGATCGAGACCCGACGC chr4:47979172-Variant-C;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative A caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GATTGGTATTCG CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAgattggtattcgAGATCGAGACCCGACGC chr4:47979172-Alternative-A;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative A caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACGGCTATCGGT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAacggctatcggtAGATCGAGACCCGACGC chr4:47979172-Alternative-A;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Variant C caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GATGTGGTATGA CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAgatgtggtatgaAGATCGAGACCCGACGC chr4:47979172-Variant-C;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative T caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACTGTTCAGCGG CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAactgttcagcggAGATCGAGACCCGACGC chr4:47979172-Alternative-T;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative A caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GTTCTGGCTAAT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAgttctggctaatAGATCGAGACCCGACGC chr4:47979172-Alternative-A;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative T caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GGTATGCATACG CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAggtatgcatacgAGATCGAGACCCGACGC chr4:47979172-Alternative-T;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Variant C caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa AACGCGTCTGCT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaCaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAaacgcgtctgctAGATCGAGACCCGACGC chr4:47979172-Variant-C;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative A caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GGTTCATGTAGT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaAaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAggttcatgtagtAGATCGAGACCCGACGC chr4:47979172-Alternative-A;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative T caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACGACGAGTGGT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAacgacgagtggtAGATCGAGACCCGACGC chr4:47979172-Alternative-T;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Reference G caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa CATAGACGCTAT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAcatagacgctatAGATCGAGACCCGACGC chr4:47979172-Reference-G;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Reference G caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GGTATGACGAGA CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAggtatgacgagaAGATCGAGACCCGACGC chr4:47979172-Reference-G;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Reference G caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa GGATCATAGGCG CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAggatcataggcgAGATCGAGACCCGACGC chr4:47979172-Reference-G;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative T caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACCGTAGGCATC CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAaccgtaggcatcAGATCGAGACCCGACGC chr4:47979172-Alternative-T;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Alternative T caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa CTGCGGATAGTC CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaTaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAActgcggatagtcAGATCGAGACCCGACGC chr4:47979172-Alternative-T;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Reference G caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa CGACTATCCATT CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAcgactatccattAGATCGAGACCCGACGC chr4:47979172-Reference-G;Patient-100 chr4:47979172-GC DeNovo Patient-100 intronic CNGA1 6.4e-05 3.91e-05 0.15 5.04 1.34 CNGA1 35788 Reference G caggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaa ACTCGTCACGTC CGACGCGGTCTCTCTCTcaggctgaattgtgtgcccccaaaatccatatattgaagctctaaccccaGaatgtgacggtttttggagacaaggcctttaaagagatgattaagtcaaAGAGGGAGACGGACGTCTCAATAAactcgtcacgtcAGATCGAGACCCGACGC chr4:47979172-Reference-G;Patient-100 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Variant C acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ATAACGACCGGC CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAataacgaccggcAGATCGAGACCCGACGC chr4:54457026-Variant-C;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Variant C acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt AGTTCTGAGTGT CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAagttctgagtgtAGATCGAGACCCGACGC chr4:54457026-Variant-C;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Variant C acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ACGACTTAACGG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAacgacttaacggAGATCGAGACCCGACGC chr4:54457026-Variant-C;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Variant C acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GAGTCAACTGTT CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAgagtcaactgttAGATCGAGACCCGACGC chr4:54457026-Variant-C;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Variant C acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ACTTGCTGGCGT CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgCaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAacttgctggcgtAGATCGAGACCCGACGC chr4:54457026-Variant-C;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative A acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GCGTGCGTTGTT CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAgcgtgcgttgttAGATCGAGACCCGACGC chr4:54457026-Alternative-A;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative A acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ATACGGTTAAGG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAatacggttaaggAGATCGAGACCCGACGC chr4:54457026-Alternative-A;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Reference G acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt CAACAGCTAACG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAcaacagctaacgAGATCGAGACCCGACGC chr4:54457026-Reference-G;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Reference G acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ATTCTTAGACGC CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAattcttagacgcAGATCGAGACCCGACGC chr4:54457026-Reference-G;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Reference G acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GCGAAGATGCAG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAgcgaagatgcagAGATCGAGACCCGACGC chr4:54457026-Reference-G;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Reference G acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GATTCGTCGCAG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAgattcgtcgcagAGATCGAGACCCGACGC chr4:54457026-Reference-G;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative T acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt CGCATAGATAAC CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAcgcatagataacAGATCGAGACCCGACGC chr4:54457026-Alternative-T;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative A acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt CTTAGTCTGTGA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAActtagtctgtgaAGATCGAGACCCGACGC chr4:54457026-Alternative-A;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative T acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ATACGCTGTGCA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAatacgctgtgcaAGATCGAGACCCGACGC chr4:54457026-Alternative-T;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative T acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt AGTTCATGGAGA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAagttcatggagaAGATCGAGACCCGACGC chr4:54457026-Alternative-T;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Reference G acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GGAACGTTCAGG CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgGaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAggaacgttcaggAGATCGAGACCCGACGC chr4:54457026-Reference-G;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative T acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt ACGGCGTGCTAA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAacggcgtgctaaAGATCGAGACCCGACGC chr4:54457026-Alternative-T;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative A acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GGACAGCATCTA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAggacagcatctaAGATCGAGACCCGACGC chr4:54457026-Alternative-A;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative T acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt GGTGTAAGAGTT CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgTaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAggtgtaagagttAGATCGAGACCCGACGC chr4:54457026-Alternative-T;Patient-37 chr4:54457026-GC DeNovo Patient-37 intronic LNX1 NA 4.95e-05 -0.05 1.95 -0.43 LNX1 726 Alternative A acaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggt CGGCTTCGCTTA CGACGCGGTCTCTCTCTacaaagagcaaagaaaatggtagactttttcagagaagagaggaaaactgAaacgcacagcttctgaatagggcaacagaatttgccctgaggaacaggtAGAGGGAGACGGACGTCTCAATAAcggcttcgcttaAGATCGAGACCCGACGC chr4:54457026-Alternative-A;Patient-37 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative A cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GTAGTGACATGA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgtagtgacatgaAGATCGAGACCCGACGC chr4:55165198-Alternative-A;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative A cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GGCTTCGGAACT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAggcttcggaactAGATCGAGACCCGACGC chr4:55165198-Alternative-A;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative C cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt CTTACGTTAAGG CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAActtacgttaaggAGATCGAGACCCGACGC chr4:55165198-Alternative-C;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative A cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GACATGCGTATC CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgacatgcgtatcAGATCGAGACCCGACGC chr4:55165198-Alternative-A;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative A cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt AAGTATCTCGCA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAaagtatctcgcaAGATCGAGACCCGACGC chr4:55165198-Alternative-A;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative C cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GACCACAGATGC CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgaccacagatgcAGATCGAGACCCGACGC chr4:55165198-Alternative-C;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative C cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt CACGATGTCTAA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAcacgatgtctaaAGATCGAGACCCGACGC chr4:55165198-Alternative-C;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Reference T cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GACGATTAGGCG CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgacgattaggcgAGATCGAGACCCGACGC chr4:55165198-Reference-T;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative C cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GCGAATTCTAGT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgcgaattctagtAGATCGAGACCCGACGC chr4:55165198-Alternative-C;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative A cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt CGATGCTTCATT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcAacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAcgatgcttcattAGATCGAGACCCGACGC chr4:55165198-Alternative-A;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Alternative C cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GGTGTCGAGCAA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcCacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAggtgtcgagcaaAGATCGAGACCCGACGC chr4:55165198-Alternative-C;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Reference T cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt AATAGCTCGAAG CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAaatagctcgaagAGATCGAGACCCGACGC chr4:55165198-Reference-T;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Reference T cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GCATTCGACGAC CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgcattcgacgacAGATCGAGACCCGACGC chr4:55165198-Reference-T;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Variant G cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt ATCTCATACGCT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAatctcatacgctAGATCGAGACCCGACGC chr4:55165198-Variant-G;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Variant G cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GGCTATACTGCG CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAggctatactgcgAGATCGAGACCCGACGC chr4:55165198-Variant-G;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Reference T cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GATACGTCACTA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAgatacgtcactaAGATCGAGACCCGACGC chr4:55165198-Reference-T;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Reference T cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt GGATCATGGAGT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcTacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAggatcatggagtAGATCGAGACCCGACGC chr4:55165198-Reference-T;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Variant G cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt AATCGTGCGATA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAaatcgtgcgataAGATCGAGACCCGACGC chr4:55165198-Variant-G;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Variant G cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt AAGAATCAGCGT CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAaagaatcagcgtAGATCGAGACCCGACGC chr4:55165198-Variant-G;Patient-62 chr4:55165198-TG DeNovo Patient-62 intergenic NA 0.000513 0.1 4.32 0.83 PDGFRA 69933 Variant G cagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatcctt CGTAACACGTTA CGACGCGGTCTCTCTCTcagttccctttgtatgcatctgtgtatatatattcccatacacacatctcGacgtttgcttcatatctacctaaatgggttctcactttatgtaatccttAGAGGGAGACGGACGTCTCAATAAcgtaacacgttaAGATCGAGACCCGACGC chr4:55165198-Variant-G;Patient-62 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative C ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GCGGTTGTCCTA CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAgcggttgtcctaAGATCGAGACCCGACGC chr4:55510877-Alternative-C;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative T ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GGTACATTATGC CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAggtacattatgcAGATCGAGACCCGACGC chr4:55510877-Alternative-T;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative C ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag ACACAGCATGTT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAacacagcatgttAGATCGAGACCCGACGC chr4:55510877-Alternative-C;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative T ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag AATCGACGTAAG CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAaatcgacgtaagAGATCGAGACCCGACGC chr4:55510877-Alternative-T;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative C ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CAACGCATGTTC CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcaacgcatgttcAGATCGAGACCCGACGC chr4:55510877-Alternative-C;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Variant A ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GTTGGAACATGA CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAgttggaacatgaAGATCGAGACCCGACGC chr4:55510877-Variant-A;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative T ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GCAGACTAAGGT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAgcagactaaggtAGATCGAGACCCGACGC chr4:55510877-Alternative-T;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Variant A ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GGAGTAGATTGT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAggagtagattgtAGATCGAGACCCGACGC chr4:55510877-Variant-A;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Variant A ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CGGACGTGTATC CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcggacgtgtatcAGATCGAGACCCGACGC chr4:55510877-Variant-A;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Variant A ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag ACAAGCGTAAGT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAacaagcgtaagtAGATCGAGACCCGACGC chr4:55510877-Variant-A;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Reference G ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CGATATCCTTGT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcgatatccttgtAGATCGAGACCCGACGC chr4:55510877-Reference-G;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Reference G ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GAGATACACGAG CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAgagatacacgagAGATCGAGACCCGACGC chr4:55510877-Reference-G;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative C ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CGATACATTCGC CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcgatacattcgcAGATCGAGACCCGACGC chr4:55510877-Alternative-C;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Variant A ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag GACTGGATGAAC CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaAaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAgactggatgaacAGATCGAGACCCGACGC chr4:55510877-Variant-A;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Reference G ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CAATTGCCTAGA CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcaattgcctagaAGATCGAGACCCGACGC chr4:55510877-Reference-G;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative T ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CTACGCTCTGGT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAActacgctctggtAGATCGAGACCCGACGC chr4:55510877-Alternative-T;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative C ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag CGGCCAACAGTT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaCaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAcggccaacagttAGATCGAGACCCGACGC chr4:55510877-Alternative-C;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Alternative T ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag AACTTACACGCG CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaTaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAaacttacacgcgAGATCGAGACCCGACGC chr4:55510877-Alternative-T;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Reference G ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag AGCGCAATTGCA CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAagcgcaattgcaAGATCGAGACCCGACGC chr4:55510877-Reference-G;Patient-92 chr4:55510877-GA DeNovo Patient-92 intergenic NA 0.000513 0.07 3.75 1.35 KIT 13217 Reference G ggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaag ATCGGATAGACT CGACGCGGTCTCTCTCTggaggctgggagacaggagcacgtaagagggagatcacaacacagtgtgaGaagtacaaagacatagaaggtgtgtgtctgtaggcacacaagggacaagAGAGGGAGACGGACGTCTCAATAAatcggatagactAGATCGAGACCCGACGC chr4:55510877-Reference-G;Patient-92 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative T ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CGAATTACTACG CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAcgaattactacgAGATCGAGACCCGACGC chr4:55943386-Alternative-T;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative A ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ACGCAAGTGATA CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAacgcaagtgataAGATCGAGACCCGACGC chr4:55943386-Alternative-A;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative T ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa GGTTACGGAACG CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAggttacggaacgAGATCGAGACCCGACGC chr4:55943386-Alternative-T;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Reference G ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CTGTTCATCTTC CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAActgttcatcttcAGATCGAGACCCGACGC chr4:55943386-Reference-G;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Reference G ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ATTCGCCGATAA CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAattcgccgataaAGATCGAGACCCGACGC chr4:55943386-Reference-G;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative T ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CGCATAAGTAAC CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAcgcataagtaacAGATCGAGACCCGACGC chr4:55943386-Alternative-T;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Reference G ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CTCGTAACCAAT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAActcgtaaccaatAGATCGAGACCCGACGC chr4:55943386-Reference-G;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative T ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ATAAGTAAGGCG CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAataagtaaggcgAGATCGAGACCCGACGC chr4:55943386-Alternative-T;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative T ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa AACTCTGCCGGT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagTcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAaactctgccggtAGATCGAGACCCGACGC chr4:55943386-Alternative-T;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Reference G ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa GTCGCTCGCATT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAgtcgctcgcattAGATCGAGACCCGACGC chr4:55943386-Reference-G;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Reference G ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CTTACACAACAC CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagGcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAActtacacaacacAGATCGAGACCCGACGC chr4:55943386-Reference-G;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative A ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa AACCGATGACAT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAaaccgatgacatAGATCGAGACCCGACGC chr4:55943386-Alternative-A;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative A ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa GATTCTGGTCGG CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAgattctggtcggAGATCGAGACCCGACGC chr4:55943386-Alternative-A;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative A ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa GGTGGATGACCA CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAggtggatgaccaAGATCGAGACCCGACGC chr4:55943386-Alternative-A;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Alternative A ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ACTAAGGACCTT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagAcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAactaaggaccttAGATCGAGACCCGACGC chr4:55943386-Alternative-A;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Variant C ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ACGACACATTCA CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAacgacacattcaAGATCGAGACCCGACGC chr4:55943386-Variant-C;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Variant C ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa ACCTCGGTTGCT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAacctcggttgctAGATCGAGACCCGACGC chr4:55943386-Variant-C;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Variant C ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CATCATACGGAT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAcatcatacggatAGATCGAGACCCGACGC chr4:55943386-Variant-C;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Variant C ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CGGAACCTAGCA CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAcggaacctagcaAGATCGAGACCCGACGC chr4:55943386-Variant-C;Patient-90 chr4:55943386-GC DeNovo Patient-90 intergenic 0.000988 0.000513 -0.22 0.61 -1.79 KDR 48375 Variant C ctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaa CAGTCCGTCGTT CGACGCGGTCTCTCTCTctaataaaattttttaaaacctaggagccattttttaaaaatagggagagCcatatttgactagataaacatttcaaaatcttgtattaaaaaatcacaaAGAGGGAGACGGACGTCTCAATAAcagtccgtcgttAGATCGAGACCCGACGC chr4:55943386-Variant-C;Patient-90 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative T cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CTCACGGCATTC CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAActcacggcattcAGATCGAGACCCGACGC chr4:57362266-Alternative-T;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative T cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct AGGCTGTATTCA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAaggctgtattcaAGATCGAGACCCGACGC chr4:57362266-Alternative-T;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Reference G cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GCGACGAGATGT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAgcgacgagatgtAGATCGAGACCCGACGC chr4:57362266-Reference-G;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Variant A cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacct ATAACTCACCGA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAataactcaccgaAGATCGAGACCCGACGC chr4:57362266-Variant-A;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Reference G cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CGAGTGAACATA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAcgagtgaacataAGATCGAGACCCGACGC chr4:57362266-Reference-G;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Reference G cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CGATGTCGGTGT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAcgatgtcggtgtAGATCGAGACCCGACGC chr4:57362266-Reference-G;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Reference G cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CGGACGCTATGA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAcggacgctatgaAGATCGAGACCCGACGC chr4:57362266-Reference-G;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Variant A cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GCGTGCCAGTAA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAgcgtgccagtaaAGATCGAGACCCGACGC chr4:57362266-Variant-A;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Variant A cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GCGCATTATTCA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAgcgcattattcaAGATCGAGACCCGACGC chr4:57362266-Variant-A;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Variant A cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacct ACACCATAGCGG CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAacaccatagcggAGATCGAGACCCGACGC chr4:57362266-Variant-A;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Variant A cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GAGTGTGGTATC CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgActttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAgagtgtggtatcAGATCGAGACCCGACGC chr4:57362266-Variant-A;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative C cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CGTCGAACATTA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAcgtcgaacattaAGATCGAGACCCGACGC chr4:57362266-Alternative-C;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative C cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct AGTCGACAGTAA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAagtcgacagtaaAGATCGAGACCCGACGC chr4:57362266-Alternative-C;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative T cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct ACTAGCGGACGT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAactagcggacgtAGATCGAGACCCGACGC chr4:57362266-Alternative-T;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Reference G cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct AAGGCGTCAATA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgGctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAaaggcgtcaataAGATCGAGACCCGACGC chr4:57362266-Reference-G;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative C cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GGCGGAGATGAT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAggcggagatgatAGATCGAGACCCGACGC chr4:57362266-Alternative-C;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative T cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GCGAGATAACGA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAgcgagataacgaAGATCGAGACCCGACGC chr4:57362266-Alternative-T;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative T cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct AAGGTTCAACCT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgTctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAaaggttcaacctAGATCGAGACCCGACGC chr4:57362266-Alternative-T;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative C cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct GGATGTAGGTAA CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAAggatgtaggtaaAGATCGAGACCCGACGC chr4:57362266-Alternative-C;Patient-108 chr4:57362266-GA DeNovo Patient-108 intronic SRP72 NA 3.84e-05 -0.09 1.49 -0.38 ARL9 9108 Alternative C cttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacct CTAAGTAACGGT CGACGCGGTCTCTCTCTcttgaattattaaccagggaaataatgtgcattgattggcttggagtgtgCctttaatctctggaaaaattgggtggcattaccgtgcttgattttacctAGAGGGAGACGGACGTCTCAATAActaagtaacggtAGATCGAGACCCGACGC chr4:57362266-Alternative-C;Patient-108 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Reference A ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac GTCGTATGTGAT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAgtcgtatgtgatAGATCGAGACCCGACGC chr4:57811018-Reference-A;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative C ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac ATCCTCGCCTAA CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAatcctcgcctaaAGATCGAGACCCGACGC chr4:57811018-Alternative-C;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative T ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac AAGAACGCGAGT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAaagaacgcgagtAGATCGAGACCCGACGC chr4:57811018-Alternative-T;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative C ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CAGGAGCGAGAA CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAcaggagcgagaaAGATCGAGACCCGACGC chr4:57811018-Alternative-C;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative T ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac AGACCGTAGTAA CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAagaccgtagtaaAGATCGAGACCCGACGC chr4:57811018-Alternative-T;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative C ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CAAGGAGACAAC CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAcaaggagacaacAGATCGAGACCCGACGC chr4:57811018-Alternative-C;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative T ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CTACCGCAGCAT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAActaccgcagcatAGATCGAGACCCGACGC chr4:57811018-Alternative-T;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative C ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac GAGCAATGTGCG CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAgagcaatgtgcgAGATCGAGACCCGACGC chr4:57811018-Alternative-C;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative T ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac GGCTTGCTCGTT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAggcttgctcgttAGATCGAGACCCGACGC chr4:57811018-Alternative-T;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative C ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CGTGCTTACGTC CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcCgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAcgtgcttacgtcAGATCGAGACCCGACGC chr4:57811018-Alternative-C;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Reference A ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac ATACGAGAGTCT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAatacgagagtctAGATCGAGACCCGACGC chr4:57811018-Reference-A;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Reference A ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac GCGTTCATACGC CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAgcgttcatacgcAGATCGAGACCCGACGC chr4:57811018-Reference-A;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Reference A ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CGACGTACGGTT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAcgacgtacggttAGATCGAGACCCGACGC chr4:57811018-Reference-A;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Reference A ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac AGTCCGGCTGAT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcAgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAagtccggctgatAGATCGAGACCCGACGC chr4:57811018-Reference-A;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Variant G ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac ACGATGGAGAGT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAacgatggagagtAGATCGAGACCCGACGC chr4:57811018-Variant-G;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Alternative T ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac AACTACGTGACG CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcTgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAaactacgtgacgAGATCGAGACCCGACGC chr4:57811018-Alternative-T;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Variant G ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac CTGGTGGTACAC CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAActggtggtacacAGATCGAGACCCGACGC chr4:57811018-Variant-G;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Variant G ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac GATGACGAACCT CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAgatgacgaacctAGATCGAGACCCGACGC chr4:57811018-Variant-G;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Variant G ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac AGCGTGCGGTAA CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAagcgtgcggtaaAGATCGAGACCCGACGC chr4:57811018-Variant-G;Patient-43 chr4:57811018-AG DeNovo Patient-43 intergenic NA 0.000513 0.06 3.54 0 POLR2B 34090 Variant G ttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagac ACCTCATGTAAG CGACGCGGTCTCTCTCTttgggaggctgaggcaggagaatagcttgaacccgggaggcagaggttgcGgtgagccgagatcgcgccactgcactccagcctggcaacagagccagacAGAGGGAGACGGACGTCTCAATAAacctcatgtaagAGATCGAGACCCGACGC chr4:57811018-Variant-G;Patient-43 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Reference C aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg CTTGATTGCGAA CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAActtgattgcgaaAGATCGAGACCCGACGC chr4:6321607-Reference-C;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative G aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg CTCGCGATTAAT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAActcgcgattaatAGATCGAGACCCGACGC chr4:6321607-Alternative-G;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Reference C aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AGTGTTGTCTGA CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAagtgttgtctgaAGATCGAGACCCGACGC chr4:6321607-Reference-C;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Reference C aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg ATCGCTTCATAC CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAatcgcttcatacAGATCGAGACCCGACGC chr4:6321607-Reference-C;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Reference C aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AACACGCTCACG CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAaacacgctcacgAGATCGAGACCCGACGC chr4:6321607-Reference-C;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative G aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GCGAAGCTTCCT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgcgaagcttcctAGATCGAGACCCGACGC chr4:6321607-Alternative-G;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative G aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GATAACGACAGT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgataacgacagtAGATCGAGACCCGACGC chr4:6321607-Alternative-G;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative A aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GATTATCCGACT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgattatccgactAGATCGAGACCCGACGC chr4:6321607-Alternative-A;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Variant T aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AACGATACGTTC CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAaacgatacgttcAGATCGAGACCCGACGC chr4:6321607-Variant-T;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Variant T aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg CGATCTTCAGTT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAcgatcttcagttAGATCGAGACCCGACGC chr4:6321607-Variant-T;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Reference C aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg CTGTGCAACGAT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgCtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAActgtgcaacgatAGATCGAGACCCGACGC chr4:6321607-Reference-C;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Variant T aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg ACCGTCACCAAC CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAaccgtcaccaacAGATCGAGACCCGACGC chr4:6321607-Variant-T;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative G aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AGTCAGCTAACG CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAagtcagctaacgAGATCGAGACCCGACGC chr4:6321607-Alternative-G;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative A aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AGTGTCTGACAT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAagtgtctgacatAGATCGAGACCCGACGC chr4:6321607-Alternative-A;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Variant T aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg AACCGTGTACGC CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAaaccgtgtacgcAGATCGAGACCCGACGC chr4:6321607-Variant-T;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Variant T aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GTCGAATAGAGT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgTtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgtcgaatagagtAGATCGAGACCCGACGC chr4:6321607-Variant-T;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative A aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg ACGGTGGATCGA CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAacggtggatcgaAGATCGAGACCCGACGC chr4:6321607-Alternative-A;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative G aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GTAGGAGGACGA CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgGtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgtaggaggacgaAGATCGAGACCCGACGC chr4:6321607-Alternative-G;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative A aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GTATTAGGAGGT CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgtattaggaggtAGATCGAGACCCGACGC chr4:6321607-Alternative-A;Patient-81 chr4:6321607-CT DeNovo Patient-81 intergenic 0.000605 0.001538462 0.04 3.22 0.69 WFS1 50029 Alternative A aatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctgg GTATTCCTGGAA CGACGCGGTCTCTCTCTaatgaagcccctgccagcagacccgcagaatagcacctgccttcctcctgAtgaacctgaagcccagaattccctcctgaaagccagaggcagggcctggAGAGGGAGACGGACGTCTCAATAAgtattcctggaaAGATCGAGACCCGACGC chr4:6321607-Alternative-A;Patient-81 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative G atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat AACAGACGATCA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAaacagacgatcaAGATCGAGACCCGACGC chr4:68337643-Alternative-G;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative G atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat AGCGCATCTTAA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAagcgcatcttaaAGATCGAGACCCGACGC chr4:68337643-Alternative-G;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative G atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GTCGCAGGTGTT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgtcgcaggtgttAGATCGAGACCCGACGC chr4:68337643-Alternative-G;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative G atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CGACTCTACGGT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAcgactctacggtAGATCGAGACCCGACGC chr4:68337643-Alternative-G;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative G atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GACGATAGACGC CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaGagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgacgatagacgcAGATCGAGACCCGACGC chr4:68337643-Alternative-G;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Variant C atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CGGTGTAATCAA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAcggtgtaatcaaAGATCGAGACCCGACGC chr4:68337643-Variant-C;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Variant C atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GACGCGTGTCTT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgacgcgtgtcttAGATCGAGACCCGACGC chr4:68337643-Variant-C;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Reference T atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GGAGTTGTGTGG CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAggagttgtgtggAGATCGAGACCCGACGC chr4:68337643-Reference-T;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Reference T atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CACTGAGTCAAT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAcactgagtcaatAGATCGAGACCCGACGC chr4:68337643-Reference-T;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative A atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GGAGGTAGTTCG CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAggaggtagttcgAGATCGAGACCCGACGC chr4:68337643-Alternative-A;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative A atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CAACCAGGTACG CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAcaaccaggtacgAGATCGAGACCCGACGC chr4:68337643-Alternative-A;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative A atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GGAACAATAGTC CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAggaacaatagtcAGATCGAGACCCGACGC chr4:68337643-Alternative-A;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative A atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GTGTAGGCTTCG CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgtgtaggcttcgAGATCGAGACCCGACGC chr4:68337643-Alternative-A;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Variant C atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GGTTAATGAGCA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAggttaatgagcaAGATCGAGACCCGACGC chr4:68337643-Variant-C;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Variant C atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CTGGTCAGGCAA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAActggtcaggcaaAGATCGAGACCCGACGC chr4:68337643-Variant-C;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Alternative A atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat CTGAACGCGGAT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaAagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAActgaacgcggatAGATCGAGACCCGACGC chr4:68337643-Alternative-A;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Reference T atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat AGGACGACCATT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAaggacgaccattAGATCGAGACCCGACGC chr4:68337643-Reference-T;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Variant C atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GATTGCTGACCG CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaCagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgattgctgaccgAGATCGAGACCCGACGC chr4:68337643-Variant-C;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Reference T atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GTTACACCTACA CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgttacacctacaAGATCGAGACCCGACGC chr4:68337643-Reference-T;Patient-37 chr4:68337643-TC DeNovo Patient-37 intergenic 0.000127 0.000512821 -0.26 0.49 -1.04 CENPC 73612 Reference T atatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataat GAGTCTGATTCT CGACGCGGTCTCTCTCTatatgaaccaaaaagcataatggaaaaacatttacatgtaatatactaaaTagatgtcatgccaacacagacacacaaggtgagaataccatgtgataatAGAGGGAGACGGACGTCTCAATAAgagtctgattctAGATCGAGACCCGACGC chr4:68337643-Reference-T;Patient-37 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Reference G tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGTAGAGCAGCA CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcgtagagcagcaAGATCGAGACCCGACGC chr4:69474842-Reference-G;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Reference G tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGTAACGAGCGT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcgtaacgagcgtAGATCGAGACCCGACGC chr4:69474842-Reference-G;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Variant C tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct AATGCTCAAGCT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAaatgctcaagctAGATCGAGACCCGACGC chr4:69474842-Variant-C;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Reference G tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ATCACGAGCACG CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAatcacgagcacgAGATCGAGACCCGACGC chr4:69474842-Reference-G;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative A tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CTTGTCTATACG CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAActtgtctatacgAGATCGAGACCCGACGC chr4:69474842-Alternative-A;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Reference G tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct AACGGTCACGAT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAaacggtcacgatAGATCGAGACCCGACGC chr4:69474842-Reference-G;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Variant C tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGAATAGTGCGC CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcgaatagtgcgcAGATCGAGACCCGACGC chr4:69474842-Variant-C;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Variant C tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct GGCTACCGCAAT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAggctaccgcaatAGATCGAGACCCGACGC chr4:69474842-Variant-C;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative A tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ACTCTCGATAGT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAactctcgatagtAGATCGAGACCCGACGC chr4:69474842-Alternative-A;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative A tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ATTATCCTGCGC CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAattatcctgcgcAGATCGAGACCCGACGC chr4:69474842-Alternative-A;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Reference G tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CTAACCTTATGC CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaGtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAActaaccttatgcAGATCGAGACCCGACGC chr4:69474842-Reference-G;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative A tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGAGATCATGTT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcgagatcatgttAGATCGAGACCCGACGC chr4:69474842-Alternative-A;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Variant C tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct GCATAGTGGTAA CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAgcatagtggtaaAGATCGAGACCCGACGC chr4:69474842-Variant-C;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Variant C tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGGTGAATACGC CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaCtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcggtgaatacgcAGATCGAGACCCGACGC chr4:69474842-Variant-C;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative T tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CGAATGCCGGTT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAcgaatgccggttAGATCGAGACCCGACGC chr4:69474842-Alternative-T;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative T tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct GATGACGCAACG CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAgatgacgcaacgAGATCGAGACCCGACGC chr4:69474842-Alternative-T;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative T tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ATCATCGTTCAC CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAatcatcgttcacAGATCGAGACCCGACGC chr4:69474842-Alternative-T;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative T tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct CTTGGATAGGTT CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAActtggataggttAGATCGAGACCCGACGC chr4:69474842-Alternative-T;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative T tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ACTGAGTTGAGA CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaTtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAactgagttgagaAGATCGAGACCCGACGC chr4:69474842-Alternative-T;Patient-49 chr4:69474842-GC DeNovo Patient-49 intergenic NA 0.000243 -0.07 1.67 0 UGT2B17 40596 Alternative A tgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagct ACTCGTATGTGA CGACGCGGTCTCTCTCTtgagagagggcattcctatcttgtgctggttttcagagggaattcttccaAtttttgcccattcagtatgatattggctgtgggtttgtcataaatagctAGAGGGAGACGGACGTCTCAATAAactcgtatgtgaAGATCGAGACCCGACGC chr4:69474842-Alternative-A;Patient-49 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative C ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CGACGCACCTAA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcgacgcacctaaAGATCGAGACCCGACGC chr4:695671-Alternative-C;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative C ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CTTGACGAACGT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAActtgacgaacgtAGATCGAGACCCGACGC chr4:695671-Alternative-C;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Variant A ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GGTCTGCTTCGT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAggtctgcttcgtAGATCGAGACCCGACGC chr4:695671-Variant-A;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative C ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CGATGTAACGAA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcgatgtaacgaaAGATCGAGACCCGACGC chr4:695671-Alternative-C;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Variant A ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CATAAGGACCTT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcataaggaccttAGATCGAGACCCGACGC chr4:695671-Variant-A;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative C ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GTACGGCATGAG CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAgtacggcatgagAGATCGAGACCCGACGC chr4:695671-Alternative-C;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative T ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GCATTGGTCGGT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAgcattggtcggtAGATCGAGACCCGACGC chr4:695671-Alternative-T;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative C ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GTTGGATTGGAA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacCagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAgttggattggaaAGATCGAGACCCGACGC chr4:695671-Alternative-C;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative T ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg AGATAGCAACCA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAagatagcaaccaAGATCGAGACCCGACGC chr4:695671-Alternative-T;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Variant A ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CGCTATCAGACT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcgctatcagactAGATCGAGACCCGACGC chr4:695671-Variant-A;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative T ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg ACCTGGACAATT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAacctggacaattAGATCGAGACCCGACGC chr4:695671-Alternative-T;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Reference G ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CGATAGAGCAAG CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcgatagagcaagAGATCGAGACCCGACGC chr4:695671-Reference-G;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative T ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CGGCGCAGTATA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcggcgcagtataAGATCGAGACCCGACGC chr4:695671-Alternative-T;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Alternative T ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CAACCTAGGTTC CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacTagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcaacctaggttcAGATCGAGACCCGACGC chr4:695671-Alternative-T;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Variant A ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GACCTTGCTAGG CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAgaccttgctaggAGATCGAGACCCGACGC chr4:695671-Variant-A;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Reference G ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CACAGCTGAAGG CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAcacagctgaaggAGATCGAGACCCGACGC chr4:695671-Reference-G;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Reference G ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg ATTGCGAGCTAA CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAattgcgagctaaAGATCGAGACCCGACGC chr4:695671-Reference-G;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Reference G ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg AGAACGGCTGAC CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAagaacggctgacAGATCGAGACCCGACGC chr4:695671-Reference-G;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Reference G ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg CTATCAGTTCGT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacGagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAActatcagttcgtAGATCGAGACCCGACGC chr4:695671-Reference-G;Patient-32 chr4:695671-GA DeNovo Patient-32 intergenic 0.000191 0.00103 -0.1 1.39 0.15 PCGF3 3901 Variant A ggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtg GAATGGCGAACT CGACGCGGTCTCTCTCTggtgtggtggcttatgcctgtaatcccagctacttgagaggctgaggcacAagaattgcttgaacgtgggaggtggaggctgcagtgagccgagatcgtgAGAGGGAGACGGACGTCTCAATAAgaatggcgaactAGATCGAGACCCGACGC chr4:695671-Variant-A;Patient-32 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative G ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GACGTAACCTTA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgacgtaaccttaAGATCGAGACCCGACGC chr4:69890244-Alternative-G;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Reference T ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GCGTTAGACGCT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgcgttagacgctAGATCGAGACCCGACGC chr4:69890244-Reference-T;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative A ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ACGATGTGGTGG CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAacgatgtggtggAGATCGAGACCCGACGC chr4:69890244-Alternative-A;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative G ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GATGCGCAGTAC CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgatgcgcagtacAGATCGAGACCCGACGC chr4:69890244-Alternative-G;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Variant C ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GGACATACCATT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAggacataccattAGATCGAGACCCGACGC chr4:69890244-Variant-C;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Reference T ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GGACATGGAAGG CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAggacatggaaggAGATCGAGACCCGACGC chr4:69890244-Reference-T;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative A ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ACAGATCCTGTT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAacagatcctgttAGATCGAGACCCGACGC chr4:69890244-Alternative-A;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative A ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ACAACGTTCGTT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAacaacgttcgttAGATCGAGACCCGACGC chr4:69890244-Alternative-A;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative G ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GTACCGACGTAA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgtaccgacgtaaAGATCGAGACCCGACGC chr4:69890244-Alternative-G;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative G ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ATACCAACCAAC CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAataccaaccaacAGATCGAGACCCGACGC chr4:69890244-Alternative-G;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Variant C ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ACTTCGTTCCAA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAacttcgttccaaAGATCGAGACCCGACGC chr4:69890244-Variant-C;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Reference T ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GATATGAAGTCG CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgatatgaagtcgAGATCGAGACCCGACGC chr4:69890244-Reference-T;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative A ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaat CTAGTGCTTACG CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAActagtgcttacgAGATCGAGACCCGACGC chr4:69890244-Alternative-A;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative G ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaat AGTCCGACGAGA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataGactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAagtccgacgagaAGATCGAGACCCGACGC chr4:69890244-Alternative-G;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Variant C ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GTGGCTCTGACA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgtggctctgacaAGATCGAGACCCGACGC chr4:69890244-Variant-C;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Variant C ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaat ACGACGATATGA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAacgacgatatgaAGATCGAGACCCGACGC chr4:69890244-Variant-C;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Alternative A ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GCGGATAATTGT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataAactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAgcggataattgtAGATCGAGACCCGACGC chr4:69890244-Alternative-A;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Variant C ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaat GGATGTGCGCAT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataCactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAggatgtgcgcatAGATCGAGACCCGACGC chr4:69890244-Variant-C;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Reference T ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaat AACAGCGGACCT CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAaacagcggacctAGATCGAGACCCGACGC chr4:69890244-Reference-T;Patient-29 chr4:69890244-TC DeNovo Patient-29 intergenic NA 0.000513 -0.09 1.5 0.16 UGT2B7 71948 Reference T ggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaat CGTCGTAGTCGA CGACGCGGTCTCTCTCTggcctctctagctagattggaaaagttctcatgaatgatatcctgaaataTactttccaggttgatttcattgtctccatctgtttcagatacaccaaatAGAGGGAGACGGACGTCTCAATAAcgtcgtagtcgaAGATCGAGACCCGACGC chr4:69890244-Reference-T;Patient-29 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative A tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GGACACCTCGAA CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAggacacctcgaaAGATCGAGACCCGACGC chr4:70020873-Alternative-A;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative A tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc CGAATACGTTGT CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAcgaatacgttgtAGATCGAGACCCGACGC chr4:70020873-Alternative-A;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative A tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GGAATACGAATC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAggaatacgaatcAGATCGAGACCCGACGC chr4:70020873-Alternative-A;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Reference T tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc ACCAATGGCTAT CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAaccaatggctatAGATCGAGACCCGACGC chr4:70020873-Reference-T;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative A tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc AGCTTGTAGTAC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAagcttgtagtacAGATCGAGACCCGACGC chr4:70020873-Alternative-A;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Reference T tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc AATACGCCGTCG CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAaatacgccgtcgAGATCGAGACCCGACGC chr4:70020873-Reference-T;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Reference T tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GTACGCTCATGG CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgtacgctcatggAGATCGAGACCCGACGC chr4:70020873-Reference-T;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative G tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc CAACGTCTGACG CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAcaacgtctgacgAGATCGAGACCCGACGC chr4:70020873-Alternative-G;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Variant C tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GATAGCGAGTCG CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgatagcgagtcgAGATCGAGACCCGACGC chr4:70020873-Variant-C;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Reference T tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GTCGTACAGTAT CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgtcgtacagtatAGATCGAGACCCGACGC chr4:70020873-Reference-T;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Reference T tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GCAGTCGTATGC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcTcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgcagtcgtatgcAGATCGAGACCCGACGC chr4:70020873-Reference-T;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative A tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GCGTCGTGAACA CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcAcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgcgtcgtgaacaAGATCGAGACCCGACGC chr4:70020873-Alternative-A;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Variant C tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GCGACAACGTTC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgcgacaacgttcAGATCGAGACCCGACGC chr4:70020873-Variant-C;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative G tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc ACGCGCAGAGAA CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAacgcgcagagaaAGATCGAGACCCGACGC chr4:70020873-Alternative-G;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Variant C tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GTTCACCGACCT CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgttcaccgacctAGATCGAGACCCGACGC chr4:70020873-Variant-C;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Variant C tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc CAAGAGATCCAA CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAcaagagatccaaAGATCGAGACCCGACGC chr4:70020873-Variant-C;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Variant C tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GGTCGAATCGTC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcCcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAggtcgaatcgtcAGATCGAGACCCGACGC chr4:70020873-Variant-C;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative G tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GACGTTATTGAC CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgacgttattgacAGATCGAGACCCGACGC chr4:70020873-Alternative-G;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative G tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc CAGTTGGTAGAA CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAcagttggtagaaAGATCGAGACCCGACGC chr4:70020873-Alternative-G;Patient-87 chr4:70020873-TC Inherited Patient-87 intergenic 0.000128 0.00103 0.82 11.98 0 UGT2B7 58679 Alternative G tttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattc GATACAACTGAG CGACGCGGTCTCTCTCTtttttaaaatatttaacaaattacctcatcagtaaatattgcaggctttcGcaaaattaaatctatataatatgtataaaataaaaatgtttcaatattcAGAGGGAGACGGACGTCTCAATAAgatacaactgagAGATCGAGACCCGACGC chr4:70020873-Alternative-G;Patient-87 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Variant T accttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CTGTTCAGATCG CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAActgttcagatcgAGATCGAGACCCGACGC chr4:70076348-Variant-T;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Variant T accttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GGTATTCGACAT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAggtattcgacatAGATCGAGACCCGACGC chr4:70076348-Variant-T;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative C accttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CTCGGTCGATGA CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAActcggtcgatgaAGATCGAGACCCGACGC chr4:70076348-Alternative-C;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative A accttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg ACATGTGAGTCA CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAacatgtgagtcaAGATCGAGACCCGACGC chr4:70076348-Alternative-A;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative A accttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GCGTCCATAGCT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAgcgtccatagctAGATCGAGACCCGACGC chr4:70076348-Alternative-A;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative C accttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GGCTCTCACGTT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAggctctcacgttAGATCGAGACCCGACGC chr4:70076348-Alternative-C;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative A accttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CAACTAGTACCT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcaactagtacctAGATCGAGACCCGACGC chr4:70076348-Alternative-A;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative C accttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GCGAGTATCTAA CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAgcgagtatctaaAGATCGAGACCCGACGC chr4:70076348-Alternative-C;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative A accttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg AACTATATGCCG CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAaactatatgccgAGATCGAGACCCGACGC chr4:70076348-Alternative-A;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Variant T accttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CTGCGGAGGATT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAActgcggaggattAGATCGAGACCCGACGC chr4:70076348-Variant-T;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Variant T accttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg ACGCTCTCACGT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAacgctctcacgtAGATCGAGACCCGACGC chr4:70076348-Variant-T;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative C accttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GGTACTTACGAT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAggtacttacgatAGATCGAGACCCGACGC chr4:70076348-Alternative-C;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative C accttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CAACATGCGTGA CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttCcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcaacatgcgtgaAGATCGAGACCCGACGC chr4:70076348-Alternative-C;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Alternative A accttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CTAAGACTGACC CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttAcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAActaagactgaccAGATCGAGACCCGACGC chr4:70076348-Alternative-A;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Reference G accttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CGTGCTTCAGCT CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcgtgcttcagctAGATCGAGACCCGACGC chr4:70076348-Reference-G;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Reference G accttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CGATGCCGATGA CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcgatgccgatgaAGATCGAGACCCGACGC chr4:70076348-Reference-G;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Reference G accttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GTACTCATTAGG CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAgtactcattaggAGATCGAGACCCGACGC chr4:70076348-Reference-G;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Variant T accttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CGTCGTGTTCAC CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttTcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcgtcgtgttcacAGATCGAGACCCGACGC chr4:70076348-Variant-T;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Reference G accttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg CACTAGACAACG CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAcactagacaacgAGATCGAGACCCGACGC chr4:70076348-Reference-G;Patient-86 chr4:70076348-GT DeNovo Patient-86 intronic UGT2B11 0.000639 0.000148 -0.49 0.09 -3.26 UGT2B11 4100 Reference G accttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatg GACTACACCAAC CGACGCGGTCTCTCTCTaccttttttcttgtccttttacacctcctactctcttcctcctccaatttGcactgtcagtttcccttaatgtgaatggggaaatctttcaagagtaatgAGAGGGAGACGGACGTCTCAATAAgactacaccaacAGATCGAGACCCGACGC chr4:70076348-Reference-G;Patient-86 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative C caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga ATAAGGCTCCGC CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAataaggctccgcAGATCGAGACCCGACGC chr4:70141122-Alternative-C;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative C caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga ACTCGTTCACAT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAactcgttcacatAGATCGAGACCCGACGC chr4:70141122-Alternative-C;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative C caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CAACAAGCAGGT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcaacaagcaggtAGATCGAGACCCGACGC chr4:70141122-Alternative-C;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative C caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GGATGAAGCCGA CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAggatgaagccgaAGATCGAGACCCGACGC chr4:70141122-Alternative-C;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative A caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CATCAAGGAGGT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcatcaaggaggtAGATCGAGACCCGACGC chr4:70141122-Alternative-A;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Reference G caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GGACGCCAATAT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAggacgccaatatAGATCGAGACCCGACGC chr4:70141122-Reference-G;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Reference G caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga AGGCTTAGGTGG CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAaggcttaggtggAGATCGAGACCCGACGC chr4:70141122-Reference-G;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Reference G caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga AGGACCACAACT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAaggaccacaactAGATCGAGACCCGACGC chr4:70141122-Reference-G;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative A caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GGTATTAGGCTT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAggtattaggcttAGATCGAGACCCGACGC chr4:70141122-Alternative-A;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Variant T caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GAGAGCATCCAT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAgagagcatccatAGATCGAGACCCGACGC chr4:70141122-Variant-T;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative A caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga AGGTTCGACTAT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAaggttcgactatAGATCGAGACCCGACGC chr4:70141122-Alternative-A;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative A caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GTATAGTGGAAC CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAgtatagtggaacAGATCGAGACCCGACGC chr4:70141122-Alternative-A;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative A caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GCGGTTCGACTT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgAaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAgcggttcgacttAGATCGAGACCCGACGC chr4:70141122-Alternative-A;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Alternative C caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CGTATAGTGACT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgCaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcgtatagtgactAGATCGAGACCCGACGC chr4:70141122-Alternative-C;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Variant T caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CGTCGGATGACT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcgtcggatgactAGATCGAGACCCGACGC chr4:70141122-Variant-T;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Variant T caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga GGCTAGGTTAAT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAggctaggttaatAGATCGAGACCCGACGC chr4:70141122-Variant-T;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Reference G caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga ATACTAGCTGGT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAatactagctggtAGATCGAGACCCGACGC chr4:70141122-Reference-G;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Variant T caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CGTTGTTGCATT CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcgttgttgcattAGATCGAGACCCGACGC chr4:70141122-Variant-T;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Reference G caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga CAGAGGTGACTA CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgGaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAcagaggtgactaAGATCGAGACCCGACGC chr4:70141122-Reference-G;Patient-105 chr4:70141122-GT DeNovo Patient-105 intergenic NA 3.85e-05 -0.29 0.4 0 UGT2B11 60672 Variant T caaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgaga AAGATGTTCGCA CGACGCGGTCTCTCTCTcaaggcaagaatgatatgatttggctgtgtcctcaccgaaatttcatctgTaattgtagctcgcataattcccacctgctgtgggaggaactcggtgagaAGAGGGAGACGGACGTCTCAATAAaagatgttcgcaAGATCGAGACCCGACGC chr4:70141122-Variant-T;Patient-105 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative G gatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GATTCTGTGAGA CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgattctgtgagaAGATCGAGACCCGACGC chr4:70269935-Alternative-G;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative G gatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata ACCTTGGACATA CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAaccttggacataAGATCGAGACCCGACGC chr4:70269935-Alternative-G;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Reference C gatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata CATAATGCGAAC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAcataatgcgaacAGATCGAGACCCGACGC chr4:70269935-Reference-C;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Variant T gatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GGTAGATTGCAC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAggtagattgcacAGATCGAGACCCGACGC chr4:70269935-Variant-T;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Variant T gatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata ACGATCATAAGG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAacgatcataaggAGATCGAGACCCGACGC chr4:70269935-Variant-T;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Reference C gatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GTGTCTGGCACA CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgtgtctggcacaAGATCGAGACCCGACGC chr4:70269935-Reference-C;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative A gatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GGTATTCGAATC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAggtattcgaatcAGATCGAGACCCGACGC chr4:70269935-Alternative-A;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Variant T gatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata CGCATCAGTAGT CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAcgcatcagtagtAGATCGAGACCCGACGC chr4:70269935-Variant-T;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative A gatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GGATAAGCAGTT CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAggataagcagttAGATCGAGACCCGACGC chr4:70269935-Alternative-A;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative G gatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GCCTGACTTAGG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgcctgacttaggAGATCGAGACCCGACGC chr4:70269935-Alternative-G;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Variant T gatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata ATCTGGTCTAAG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAatctggtctaagAGATCGAGACCCGACGC chr4:70269935-Variant-T;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Variant T gatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GGCTAGCACATC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatTgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAggctagcacatcAGATCGAGACCCGACGC chr4:70269935-Variant-T;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative A gatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GAATATCCAACC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgaatatccaaccAGATCGAGACCCGACGC chr4:70269935-Alternative-A;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative G gatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GCATAAGGTAGG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgcataaggtaggAGATCGAGACCCGACGC chr4:70269935-Alternative-G;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Reference C gatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata AATGAGCTGTGA CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAaatgagctgtgaAGATCGAGACCCGACGC chr4:70269935-Reference-C;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Reference C gatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata CTGGTTGCTTAT CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAActggttgcttatAGATCGAGACCCGACGC chr4:70269935-Reference-C;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative A gatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata AGGACCACATCG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAaggaccacatcgAGATCGAGACCCGACGC chr4:70269935-Alternative-A;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Reference C gatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata CGTTGCTCTTAA CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatCgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAcgttgctcttaaAGATCGAGACCCGACGC chr4:70269935-Reference-C;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative G gatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GATCCGGTGTTC CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatGgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgatccggtgttcAGATCGAGACCCGACGC chr4:70269935-Alternative-G;Patient-17 chr4:70269935-CT Inherited Patient-17 intergenic 0.000128 0.00103 -0.78 0.01 0 UGT2B4 91690 Alternative A gatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacata GCATGTGACGAG CGACGCGGTCTCTCTCTgatgacttacagaatgggagaatataattgtaaactatgcatctgataatAgcctaatatcaaaaatctataaggaacttaaacaaattaacaaaacataAGAGGGAGACGGACGTCTCAATAAgcatgtgacgagAGATCGAGACCCGACGC chr4:70269935-Alternative-A;Patient-17 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Reference T tctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttc GCCGTACACCAT CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgccgtacaccatAGATCGAGACCCGACGC chr4:7095295-Reference-T;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative G tctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttc GGAGAACTCACG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAggagaactcacgAGATCGAGACCCGACGC chr4:7095295-Alternative-G;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative G tctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttc AATGTATACGCG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAaatgtatacgcgAGATCGAGACCCGACGC chr4:7095295-Alternative-G;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative A tctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttc CTCTGGTAGACG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAActctggtagacgAGATCGAGACCCGACGC chr4:7095295-Alternative-A;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative A tctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttc GTCTCTCGGAGT CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgtctctcggagtAGATCGAGACCCGACGC chr4:7095295-Alternative-A;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Reference T tctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttc CATATATCGCGT CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAcatatatcgcgtAGATCGAGACCCGACGC chr4:7095295-Reference-T;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative A tctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttc GAGCTAAGCATA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgagctaagcataAGATCGAGACCCGACGC chr4:7095295-Alternative-A;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative A tctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttc AACTCATCTTCG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAaactcatcttcgAGATCGAGACCCGACGC chr4:7095295-Alternative-A;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative A tctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttc GGAACGCAACGT CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcAttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAggaacgcaacgtAGATCGAGACCCGACGC chr4:7095295-Alternative-A;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Reference T tctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttc CTACGACTCCTA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAActacgactcctaAGATCGAGACCCGACGC chr4:7095295-Reference-T;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative G tctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttc GACGCGTGAGAA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgacgcgtgagaaAGATCGAGACCCGACGC chr4:7095295-Alternative-G;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Variant C tctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttc GACGAGAGCGAA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgacgagagcgaaAGATCGAGACCCGACGC chr4:7095295-Variant-C;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Variant C tctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttc AACGCGCTATAA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAaacgcgctataaAGATCGAGACCCGACGC chr4:7095295-Variant-C;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Variant C tctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttc GACGCACGGTAA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgacgcacggtaaAGATCGAGACCCGACGC chr4:7095295-Variant-C;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Variant C tctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttc CGAACCTCGTTC CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAcgaacctcgttcAGATCGAGACCCGACGC chr4:7095295-Variant-C;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative G tctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttc GTTGTACGTGCG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgttgtacgtgcgAGATCGAGACCCGACGC chr4:7095295-Alternative-G;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Reference T tctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttc GTCTAGGCATTA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgtctaggcattaAGATCGAGACCCGACGC chr4:7095295-Reference-T;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Alternative G tctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttc GATGGCATTGTT CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcGttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAgatggcattgttAGATCGAGACCCGACGC chr4:7095295-Alternative-G;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Variant C tctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttc GGCGATCTAACA CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcCttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAggcgatctaacaAGATCGAGACCCGACGC chr4:7095295-Variant-C;Patient-16 chr4:7095295-TC DeNovo Patient-16 intergenic 0.000446 0.000513 -0.18 0.84 0 GRPEL1 25494 Reference T tctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttc CATCTTCCGACG CGACGCGGTCTCTCTCTtctttctttctttctttctttctttctttctttctttctttctttccttcTttccttctttccttctttccttctttcctttccttctttctttcttttcAGAGGGAGACGGACGTCTCAATAAcatcttccgacgAGATCGAGACCCGACGC chr4:7095295-Reference-T;Patient-16 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative G aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa AAGCGGTCGTCA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAaagcggtcgtcaAGATCGAGACCCGACGC chr4:71205299-Alternative-G;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Variant C aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa ATAACGCGACGC CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAataacgcgacgcAGATCGAGACCCGACGC chr4:71205299-Variant-C;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Variant C aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa AACACCTTACGA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAaacaccttacgaAGATCGAGACCCGACGC chr4:71205299-Variant-C;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Variant C aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa AGCGGTCATATA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAagcggtcatataAGATCGAGACCCGACGC chr4:71205299-Variant-C;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative A aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa ATCCTCAGTAGA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAatcctcagtagaAGATCGAGACCCGACGC chr4:71205299-Alternative-A;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative A aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CGTCGGTATACG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcgtcggtatacgAGATCGAGACCCGACGC chr4:71205299-Alternative-A;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative A aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CTAGGCATTGCG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAActaggcattgcgAGATCGAGACCCGACGC chr4:71205299-Alternative-A;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative A aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa GTTCGAGCATGA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAgttcgagcatgaAGATCGAGACCCGACGC chr4:71205299-Alternative-A;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative A aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa AGACCGAGTTCG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaAaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAagaccgagttcgAGATCGAGACCCGACGC chr4:71205299-Alternative-A;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Reference T aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CGGCTAAGACGT CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcggctaagacgtAGATCGAGACCCGACGC chr4:71205299-Reference-T;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Reference T aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa GTGTTAACACAG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAgtgttaacacagAGATCGAGACCCGACGC chr4:71205299-Reference-T;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Reference T aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CAAGATACGTCC CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcaagatacgtccAGATCGAGACCCGACGC chr4:71205299-Reference-T;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Reference T aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CTAAGGTAGCAA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAActaaggtagcaaAGATCGAGACCCGACGC chr4:71205299-Reference-T;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative G aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CGTGCTCGTCTA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcgtgctcgtctaAGATCGAGACCCGACGC chr4:71205299-Alternative-G;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative G aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa GAGTTGACCATA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAgagttgaccataAGATCGAGACCCGACGC chr4:71205299-Alternative-G;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Variant C aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa GCCGGCTTGATA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAgccggcttgataAGATCGAGACCCGACGC chr4:71205299-Variant-C;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Variant C aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CGTAGTGTAGCG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaCaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcgtagtgtagcgAGATCGAGACCCGACGC chr4:71205299-Variant-C;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative G aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa CGTATATGATCG CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAcgtatatgatcgAGATCGAGACCCGACGC chr4:71205299-Alternative-G;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Alternative G aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa GACGTATCGCCA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaGaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAgacgtatcgccaAGATCGAGACCCGACGC chr4:71205299-Alternative-G;Patient-45 chr4:71205299-TC Inherited Patient-45 intergenic NA 0.000513 0.01 2.85 -0.69 CSN3 96965 Reference T aaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaa ACTCCGGATTAA CGACGCGGTCTCTCTCTaaaataacttgatagtcccctttgcttggaggagatgaggctctgaggcaTaaaccaaactgcaacagttaaacaattaaaaagataatgtgctgtacaaAGAGGGAGACGGACGTCTCAATAAactccggattaaAGATCGAGACCCGACGC chr4:71205299-Reference-T;Patient-45 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Variant G gttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GTATCTCGTGTT CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAgtatctcgtgttAGATCGAGACCCGACGC chr4:72039794-Variant-G;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Variant G gttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GTGAGACAGTCG CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAgtgagacagtcgAGATCGAGACCCGACGC chr4:72039794-Variant-G;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Variant G gttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GAGCAAGATTGA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAgagcaagattgaAGATCGAGACCCGACGC chr4:72039794-Variant-G;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Variant G gttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CGTCTATTGGTT CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcgtctattggttAGATCGAGACCCGACGC chr4:72039794-Variant-G;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Reference T gttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CGCAACTAGCCA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcgcaactagccaAGATCGAGACCCGACGC chr4:72039794-Reference-T;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative A gttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CAGTCGACATCG CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcagtcgacatcgAGATCGAGACCCGACGC chr4:72039794-Alternative-A;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative A gttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GGCGTCTAGACT CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAggcgtctagactAGATCGAGACCCGACGC chr4:72039794-Alternative-A;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Variant G gttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CGAGATTCGGAG CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttGtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcgagattcggagAGATCGAGACCCGACGC chr4:72039794-Variant-G;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Reference T gttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CATAGACCGAGA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcatagaccgagaAGATCGAGACCCGACGC chr4:72039794-Reference-T;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Reference T gttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca ATTGGATAACGC CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAattggataacgcAGATCGAGACCCGACGC chr4:72039794-Reference-T;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Reference T gttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GATGACGGTTCG CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAgatgacggttcgAGATCGAGACCCGACGC chr4:72039794-Reference-T;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Reference T gttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca AGCTGACTTCTT CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttTtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAagctgacttcttAGATCGAGACCCGACGC chr4:72039794-Reference-T;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative A gttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CGTAGTCACTAA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcgtagtcactaaAGATCGAGACCCGACGC chr4:72039794-Alternative-A;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative A gttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CTACGGAATAAC CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAActacggaataacAGATCGAGACCCGACGC chr4:72039794-Alternative-A;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative A gttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CTCATGCTGTTA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttAtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAActcatgctgttaAGATCGAGACCCGACGC chr4:72039794-Alternative-A;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative C gttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CGTACGGTTCGA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAcgtacggttcgaAGATCGAGACCCGACGC chr4:72039794-Alternative-C;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative C gttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca GGAGGTAGTAAT CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAggaggtagtaatAGATCGAGACCCGACGC chr4:72039794-Alternative-C;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative C gttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca CTCAACTTCGGC CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAActcaacttcggcAGATCGAGACCCGACGC chr4:72039794-Alternative-C;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative C gttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca ACGTGACAATGA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAacgtgacaatgaAGATCGAGACCCGACGC chr4:72039794-Alternative-C;Patient-72 chr4:72039794-TG DeNovo Patient-72 intergenic 0.00035 0.001025641 0.25 6.49 2.96 SLC4A4 13208 Alternative C gttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaaca ATAGTCCGCCGA CGACGCGGTCTCTCTCTgttgccagatagcagaaactgtcaatagacagcttattccattggaatttCtataaacagaagggaaattctggaattgtgcttagataaaagtacaacaAGAGGGAGACGGACGTCTCAATAAatagtccgccgaAGATCGAGACCCGACGC chr4:72039794-Alternative-C;Patient-72 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative A gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CAACAATTACGG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcaacaattacggAGATCGAGACCCGACGC chr4:73502468-Alternative-A;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Reference C gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CATCTCGATTCA CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcatctcgattcaAGATCGAGACCCGACGC chr4:73502468-Reference-C;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative G gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GACGTATCACGA CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgacgtatcacgaAGATCGAGACCCGACGC chr4:73502468-Alternative-G;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Variant T gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GTTATCCGCTAT CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgttatccgctatAGATCGAGACCCGACGC chr4:73502468-Variant-T;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative G gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CTTGAGTGTAAC CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAActtgagtgtaacAGATCGAGACCCGACGC chr4:73502468-Alternative-G;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Reference C gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctact ATCCTCTTCGTC CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAatcctcttcgtcAGATCGAGACCCGACGC chr4:73502468-Reference-C;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Variant T gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GATCCGCACTAT CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgatccgcactatAGATCGAGACCCGACGC chr4:73502468-Variant-T;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative A gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CGGAATCGTACC CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcggaatcgtaccAGATCGAGACCCGACGC chr4:73502468-Alternative-A;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Reference C gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CAACTGAAGACG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcaactgaagacgAGATCGAGACCCGACGC chr4:73502468-Reference-C;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative A gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctact ATAGCGAGTAGT CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAatagcgagtagtAGATCGAGACCCGACGC chr4:73502468-Alternative-A;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative G gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GTCTAGGACGAG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgtctaggacgagAGATCGAGACCCGACGC chr4:73502468-Alternative-G;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Reference C gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CTTGTCGTACAT CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAActtgtcgtacatAGATCGAGACCCGACGC chr4:73502468-Reference-C;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative G gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CATATGGTGTAC CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcatatggtgtacAGATCGAGACCCGACGC chr4:73502468-Alternative-G;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Variant T gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctact AAGATCGGCGCA CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAaagatcggcgcaAGATCGAGACCCGACGC chr4:73502468-Variant-T;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Variant T gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctact CGGTAGATTCTA CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAcggtagattctaAGATCGAGACCCGACGC chr4:73502468-Variant-T;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative A gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctact AGTATCTTCGAG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAagtatcttcgagAGATCGAGACCCGACGC chr4:73502468-Alternative-A;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Reference C gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GTACTTGGTAGT CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccCtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgtacttggtagtAGATCGAGACCCGACGC chr4:73502468-Reference-C;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative G gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctact ATAAGACAACGC CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccGtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAataagacaacgcAGATCGAGACCCGACGC chr4:73502468-Alternative-G;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Variant T gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GGAACGTACACG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccTtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAggaacgtacacgAGATCGAGACCCGACGC chr4:73502468-Variant-T;Patient-92 chr4:73502468-CT DeNovo Patient-92 intergenic NA 0.000513 -0.22 0.64 0 ADAMTS3 67951 Alternative A gaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctact GTTGAGTGAGCG CGACGCGGTCTCTCTCTgaagtcttgtctcagaggagtaccctgctgcgtgaggtgtcagtctgcccAtactggggggtgcctccctgttaggctactcgggtgtcagggacctactAGAGGGAGACGGACGTCTCAATAAgttgagtgagcgAGATCGAGACCCGACGC chr4:73502468-Alternative-A;Patient-92 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Variant A atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GAGGTGTAATCA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgaggtgtaatcaAGATCGAGACCCGACGC chr4:74623248-Variant-A;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Variant A atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CGTATCGCGTAC CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcgtatcgcgtacAGATCGAGACCCGACGC chr4:74623248-Variant-A;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative C atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GCAACCGTCTTC CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgcaaccgtcttcAGATCGAGACCCGACGC chr4:74623248-Alternative-C;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative C atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GATCGCCACATT CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgatcgccacattAGATCGAGACCCGACGC chr4:74623248-Alternative-C;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Variant A atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GTAATCGTCTGA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgtaatcgtctgaAGATCGAGACCCGACGC chr4:74623248-Variant-A;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative C atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CACTTCGCTTAT CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcacttcgcttatAGATCGAGACCCGACGC chr4:74623248-Alternative-C;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative C atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CGAGATCCTATA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcgagatcctataAGATCGAGACCCGACGC chr4:74623248-Alternative-C;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative C atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac ACAGCGGACCAT CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtCcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAacagcggaccatAGATCGAGACCCGACGC chr4:74623248-Alternative-C;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Variant A atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac AGCGTGTAGAAG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAagcgtgtagaagAGATCGAGACCCGACGC chr4:74623248-Variant-A;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative G atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CAAGCTCGCTTA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcaagctcgcttaAGATCGAGACCCGACGC chr4:74623248-Alternative-G;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative G atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GGTAAGCAAGCG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAggtaagcaagcgAGATCGAGACCCGACGC chr4:74623248-Alternative-G;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Reference T atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac AGCAACGCGCTA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAagcaacgcgctaAGATCGAGACCCGACGC chr4:74623248-Reference-T;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Reference T atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac AGTTATTAGGCG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAagttattaggcgAGATCGAGACCCGACGC chr4:74623248-Reference-T;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Variant A atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CAGGTAGATCCT CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtAcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcaggtagatcctAGATCGAGACCCGACGC chr4:74623248-Variant-A;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Reference T atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac ATCTCACCGCAG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAatctcaccgcagAGATCGAGACCCGACGC chr4:74623248-Reference-T;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Reference T atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac ATTCTGAAGTCG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAattctgaagtcgAGATCGAGACCCGACGC chr4:74623248-Reference-T;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative G atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GCGCTATATACT CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgcgctatatactAGATCGAGACCCGACGC chr4:74623248-Alternative-G;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Reference T atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac CGCTGATGTATA CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtTcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAcgctgatgtataAGATCGAGACCCGACGC chr4:74623248-Reference-T;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative G atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac ACGTACGTATAC CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAacgtacgtatacAGATCGAGACCCGACGC chr4:74623248-Alternative-G;Patient-19 chr4:74623248-TA DeNovo Patient-19 intergenic NA 0.000513 -0.08 1.56 0 CXCL6 79024 Alternative G atatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatac GTCTAGCTACGG CGACGCGGTCTCTCTCTatatgtatatattgcactgtaaatatatatatatataacaacacaaatgtGcattgatggataaatagacaacatatggtgtgtgtgtgtgtatatatacAGAGGGAGACGGACGTCTCAATAAgtctagctacggAGATCGAGACCCGACGC chr4:74623248-Alternative-G;Patient-19 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Variant C tatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatg CTCGCTAAGGAC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAActcgctaaggacAGATCGAGACCCGACGC chr4:74623589-Variant-C;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Variant C tatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatg CACGTCGCTATC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAcacgtcgctatcAGATCGAGACCCGACGC chr4:74623589-Variant-C;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative A tatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatg AGCATACGTTCA CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAagcatacgttcaAGATCGAGACCCGACGC chr4:74623589-Alternative-A;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative A tatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatg GTCAGACAAGGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgtcagacaaggtAGATCGAGACCCGACGC chr4:74623589-Alternative-A;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative A tatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatg CAGATTCACGGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAcagattcacggtAGATCGAGACCCGACGC chr4:74623589-Alternative-A;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative G tatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatg AACGTGTGGACG CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAaacgtgtggacgAGATCGAGACCCGACGC chr4:74623589-Alternative-G;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Variant C tatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatg AACGCGTCAGGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAaacgcgtcaggtAGATCGAGACCCGACGC chr4:74623589-Variant-C;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Reference T tatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatg GCACGCTATACG CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgcacgctatacgAGATCGAGACCCGACGC chr4:74623589-Reference-T;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative G tatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatg CTACGCGTTCCT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAActacgcgttcctAGATCGAGACCCGACGC chr4:74623589-Alternative-G;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative G tatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatg GTTCTATAAGCG CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgttctataagcgAGATCGAGACCCGACGC chr4:74623589-Alternative-G;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Reference T tatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatg GGTGGACGTCAA CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAggtggacgtcaaAGATCGAGACCCGACGC chr4:74623589-Reference-T;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative A tatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatg ATCGCGATCGGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAatcgcgatcggtAGATCGAGACCCGACGC chr4:74623589-Alternative-A;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative A tatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatg CGAGGTAACGGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataAatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAcgaggtaacggtAGATCGAGACCCGACGC chr4:74623589-Alternative-A;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Variant C tatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatg CGTTCATTATGC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAcgttcattatgcAGATCGAGACCCGACGC chr4:74623589-Variant-C;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Reference T tatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatg GCGAGAGATGAG CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgcgagagatgagAGATCGAGACCCGACGC chr4:74623589-Reference-T;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Reference T tatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatg GTATTCCGACAC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgtattccgacacAGATCGAGACCCGACGC chr4:74623589-Reference-T;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Variant C tatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatg CTAGAGGCGTAC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataCatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAActagaggcgtacAGATCGAGACCCGACGC chr4:74623589-Variant-C;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Reference T tatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatg GACCTAACTTGT CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataTatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAgacctaacttgtAGATCGAGACCCGACGC chr4:74623589-Reference-T;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative G tatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatg ACTCTCTTGTTC CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAactctcttgttcAGATCGAGACCCGACGC chr4:74623589-Alternative-G;Patient-30 chr4:74623589-TC DeNovo Patient-30 intergenic 3.2e-05 0.000513 NA NA NA CXCL6 78683 Alternative G tatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatg CGGAATGTCATA CGACGCGGTCTCTCTCTtatatacacacacacatatatatctatatatacacacacacacacatataGatatctatatatacacaccatatgttgtctaactatttatccatcgatgAGAGGGAGACGGACGTCTCAATAAcggaatgtcataAGATCGAGACCCGACGC chr4:74623589-Alternative-G;Patient-30 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative G catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GCGGTAGCTACA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAgcggtagctacaAGATCGAGACCCGACGC chr4:74643447-Alternative-G;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative G catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt ATCGACGTCCGA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAatcgacgtccgaAGATCGAGACCCGACGC chr4:74643447-Alternative-G;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative G catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GGCACCGTATGT CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAggcaccgtatgtAGATCGAGACCCGACGC chr4:74643447-Alternative-G;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative G catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CGCCTTGAGTCA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcgccttgagtcaAGATCGAGACCCGACGC chr4:74643447-Alternative-G;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Variant T catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt AGCTGTAACACT CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAagctgtaacactAGATCGAGACCCGACGC chr4:74643447-Variant-T;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Variant T catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GAGATGTTAGCA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAgagatgttagcaAGATCGAGACCCGACGC chr4:74643447-Variant-T;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative G catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CAGATACACGTT CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggGctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcagatacacgttAGATCGAGACCCGACGC chr4:74643447-Alternative-G;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Variant T catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CGCTCATCAATC CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcgctcatcaatcAGATCGAGACCCGACGC chr4:74643447-Variant-T;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Reference C catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CAGATACTCCGG CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcagatactccggAGATCGAGACCCGACGC chr4:74643447-Reference-C;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Reference C catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GACGAGGACATA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAgacgaggacataAGATCGAGACCCGACGC chr4:74643447-Reference-C;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Reference C catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CGACTGACGCTA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcgactgacgctaAGATCGAGACCCGACGC chr4:74643447-Reference-C;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Reference C catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GTACGCTATCAA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAgtacgctatcaaAGATCGAGACCCGACGC chr4:74643447-Reference-C;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative A catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CATAGCGATTGC CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcatagcgattgcAGATCGAGACCCGACGC chr4:74643447-Alternative-A;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Reference C catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CTCTAGGCGTCA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggCctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAActctaggcgtcaAGATCGAGACCCGACGC chr4:74643447-Reference-C;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative A catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CAAGACGGAGCA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcaagacggagcaAGATCGAGACCCGACGC chr4:74643447-Alternative-A;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative A catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GGAACGTTCGAG CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAggaacgttcgagAGATCGAGACCCGACGC chr4:74643447-Alternative-A;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Variant T catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CGGAGAGATGGT CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcggagagatggtAGATCGAGACCCGACGC chr4:74643447-Variant-T;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative A catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt CGTGTGGACAAG CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAcgtgtggacaagAGATCGAGACCCGACGC chr4:74643447-Alternative-A;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Alternative A catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt GTACCGTTAGAA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggActgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAgtaccgttagaaAGATCGAGACCCGACGC chr4:74643447-Alternative-A;Patient-35 chr4:74643447-CT DeNovo Patient-35 intergenic 0.000796 0.000513 0.05 3.39 -1.25 CXCL6 58825 Variant T catgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatatt AGAATGCGGCGA CGACGCGGTCTCTCTCTcatgcaatttgctgggatgtcagcttcagctgggctcgttgtcatcttggTctgaaaaacagcaaatgatgaagcaaagtgtgagaaattgtctcatattAGAGGGAGACGGACGTCTCAATAAagaatgcggcgaAGATCGAGACCCGACGC chr4:74643447-Variant-T;Patient-35 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Variant C aagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagc CTGGCGAAGCAT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAActggcgaagcatAGATCGAGACCCGACGC chr4:74654272-Variant-C;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative A aagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GATATGTACGTC CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgatatgtacgtcAGATCGAGACCCGACGC chr4:74654272-Alternative-A;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative G aagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagc AAGATGTTGCGT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAaagatgttgcgtAGATCGAGACCCGACGC chr4:74654272-Alternative-G;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative G aagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GCCAAGTATCCA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgccaagtatccaAGATCGAGACCCGACGC chr4:74654272-Alternative-G;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Variant C aagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagc CTCTTGGACCAC CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAActcttggaccacAGATCGAGACCCGACGC chr4:74654272-Variant-C;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Reference T aagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagc AGCATTGGTAAG CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAagcattggtaagAGATCGAGACCCGACGC chr4:74654272-Reference-T;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Variant C aagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagc CGTATAACTACG CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAcgtataactacgAGATCGAGACCCGACGC chr4:74654272-Variant-C;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative G aagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GCCGATTAAGTT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgccgattaagttAGATCGAGACCCGACGC chr4:74654272-Alternative-G;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative A aagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GAATGGATTAGG CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgaatggattaggAGATCGAGACCCGACGC chr4:74654272-Alternative-A;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative A aagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagc ATCGTTAACGGT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAatcgttaacggtAGATCGAGACCCGACGC chr4:74654272-Alternative-A;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative G aagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GAGCAACTCACA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgagcaactcacaAGATCGAGACCCGACGC chr4:74654272-Alternative-G;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative G aagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagc AGGCTACATAAC CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaGtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAaggctacataacAGATCGAGACCCGACGC chr4:74654272-Alternative-G;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Reference T aagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GGTCGTAACGAG CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAggtcgtaacgagAGATCGAGACCCGACGC chr4:74654272-Reference-T;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Variant C aagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GTTAACGTACGT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgttaacgtacgtAGATCGAGACCCGACGC chr4:74654272-Variant-C;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Variant C aagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagc GCGAACTCTATA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaCtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAgcgaactctataAGATCGAGACCCGACGC chr4:74654272-Variant-C;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative A aagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagc CATTCATCACCA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAcattcatcaccaAGATCGAGACCCGACGC chr4:74654272-Alternative-A;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Reference T aagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagc CAATAAGCGGAT CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAcaataagcggatAGATCGAGACCCGACGC chr4:74654272-Reference-T;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Alternative A aagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagc ATAGGATGGCGA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaAtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAataggatggcgaAGATCGAGACCCGACGC chr4:74654272-Alternative-A;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Reference T aagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagc ATACGATCGCCA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAatacgatcgccaAGATCGAGACCCGACGC chr4:74654272-Reference-T;Patient-104 chr4:74654272-TC DeNovo Patient-104 intergenic NA 3.91e-05 -0.11 1.3 0.54 CXCL1 80836 Reference T aagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagc AGCCAGAATCAA CGACGCGGTCTCTCTCTaagagacaacagagtcagagtccctttcacactaggatttctctctttcaTtctggaagttttacttctaatattacaaaggacttcattgaagccaagcAGAGGGAGACGGACGTCTCAATAAagccagaatcaaAGATCGAGACCCGACGC chr4:74654272-Reference-T;Patient-104 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Reference G ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta AACGGCATGACT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAaacggcatgactAGATCGAGACCCGACGC chr4:74959522-Reference-G;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative T ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta ACTTCGCGGTCA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAacttcgcggtcaAGATCGAGACCCGACGC chr4:74959522-Alternative-T;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative T ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GTATAGGCGGCA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgtataggcggcaAGATCGAGACCCGACGC chr4:74959522-Alternative-T;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Reference G ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta ATACGCGATAGA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAatacgcgatagaAGATCGAGACCCGACGC chr4:74959522-Reference-G;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Reference G ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta CTCGGTCAAGAA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAActcggtcaagaaAGATCGAGACCCGACGC chr4:74959522-Reference-G;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Reference G ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GCACGCTTAACG CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgcacgcttaacgAGATCGAGACCCGACGC chr4:74959522-Reference-G;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative T ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta ACGCTATAATCG CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAacgctataatcgAGATCGAGACCCGACGC chr4:74959522-Alternative-T;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative C ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta AGGTTGCCGCTA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAaggttgccgctaAGATCGAGACCCGACGC chr4:74959522-Alternative-C;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Variant A ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta CTAACTGGTGCG CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAActaactggtgcgAGATCGAGACCCGACGC chr4:74959522-Variant-A;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Variant A ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta CGAAGTGCTCGT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAcgaagtgctcgtAGATCGAGACCCGACGC chr4:74959522-Variant-A;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative T ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GGACGTTGGCAA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAggacgttggcaaAGATCGAGACCCGACGC chr4:74959522-Alternative-T;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Variant A ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta AGGAGATATCCT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAaggagatatcctAGATCGAGACCCGACGC chr4:74959522-Variant-A;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative T ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GTCGTGTAGCCA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagTcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgtcgtgtagccaAGATCGAGACCCGACGC chr4:74959522-Alternative-T;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Variant A ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GACCTCGTCTGT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgacctcgtctgtAGATCGAGACCCGACGC chr4:74959522-Variant-A;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative C ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta CGAGATGGTCGA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAcgagatggtcgaAGATCGAGACCCGACGC chr4:74959522-Alternative-C;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Variant A ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GGTGCGACATTC CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagAcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAggtgcgacattcAGATCGAGACCCGACGC chr4:74959522-Variant-A;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative C ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta AGTACGCTCGAC CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAagtacgctcgacAGATCGAGACCCGACGC chr4:74959522-Alternative-C;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative C ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GCACGTCACGAA CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgcacgtcacgaaAGATCGAGACCCGACGC chr4:74959522-Alternative-C;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Reference G ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GATATGTTCGGT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagGcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgatatgttcggtAGATCGAGACCCGACGC chr4:74959522-Reference-G;Patient-28 chr4:74959522-GA DeNovo Patient-28 intergenic NA 0.000513 0.22 6.1 0.2 CXCL2 5474 Alternative C ggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggtta GTGACCGTACAT CGACGCGGTCTCTCTCTggagttagagtccccccaacagagagagttaaagacccctcttgtaaaagCcaaggacacttgactgaacctgggttccaggcccaactttggaaggttaAGAGGGAGACGGACGTCTCAATAAgtgaccgtacatAGATCGAGACCCGACGC chr4:74959522-Alternative-C;Patient-28 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative C agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GTAGCGGTATGG CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAgtagcggtatggAGATCGAGACCCGACGC chr4:75343455-Alternative-C;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative C agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACTCGTCTGTCG CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAactcgtctgtcgAGATCGAGACCCGACGC chr4:75343455-Alternative-C;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative C agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACAATGTCGGAC CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAacaatgtcggacAGATCGAGACCCGACGC chr4:75343455-Alternative-C;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative C agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagct AGGAACACGTGC CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAaggaacacgtgcAGATCGAGACCCGACGC chr4:75343455-Alternative-C;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative C agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GCGACATTGATA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcCtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAgcgacattgataAGATCGAGACCCGACGC chr4:75343455-Alternative-C;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Reference A agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagct CGTACAATGCTA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAcgtacaatgctaAGATCGAGACCCGACGC chr4:75343455-Reference-A;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Reference A agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GGAACATCGAGT CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAggaacatcgagtAGATCGAGACCCGACGC chr4:75343455-Reference-A;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Reference A agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACGCGGTCTAGA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAacgcggtctagaAGATCGAGACCCGACGC chr4:75343455-Reference-A;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Reference A agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagct AGTCCGTCGGAT CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAagtccgtcggatAGATCGAGACCCGACGC chr4:75343455-Reference-A;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Reference A agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagct CTGCGAATTCTT CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcAtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAActgcgaattcttAGATCGAGACCCGACGC chr4:75343455-Reference-A;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative T agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagct AGTTCCAACAGG CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAagttccaacaggAGATCGAGACCCGACGC chr4:75343455-Alternative-T;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative T agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACAGAGGCACGA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAacagaggcacgaAGATCGAGACCCGACGC chr4:75343455-Alternative-T;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative T agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagct AGTCCGTGAGCT CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAagtccgtgagctAGATCGAGACCCGACGC chr4:75343455-Alternative-T;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative T agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagct AGAGCTGTAACA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAagagctgtaacaAGATCGAGACCCGACGC chr4:75343455-Alternative-T;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Alternative T agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACAGGCTTGCCT CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcTtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAacaggcttgcctAGATCGAGACCCGACGC chr4:75343455-Alternative-T;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Variant G agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACACGCGCATGA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAacacgcgcatgaAGATCGAGACCCGACGC chr4:75343455-Variant-G;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Variant G agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GTTATGCGTCGG CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAgttatgcgtcggAGATCGAGACCCGACGC chr4:75343455-Variant-G;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Variant G agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagct ACTGTCTAAGCA CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAactgtctaagcaAGATCGAGACCCGACGC chr4:75343455-Variant-G;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Variant G agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GCAGCATAGACG CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAgcagcatagacgAGATCGAGACCCGACGC chr4:75343455-Variant-G;Patient-30 chr4:75343455-AG Inherited Patient-30 intergenic 3.2e-05 0.000487 NA NA NA AREG 32601 Variant G agagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagct GATTCGGCGAAC CGACGCGGTCTCTCTCTagagatagcaaagaatcagattgttagtttataccagaagtggcaaaatcGtggtccactagctgaatttggtctacaaacctgctttctgtggagagctAGAGGGAGACGGACGTCTCAATAAgattcggcgaacAGATCGAGACCCGACGC chr4:75343455-Variant-G;Patient-30 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Reference G gcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattattt ACGTTATGCGCG CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAacgttatgcgcgAGATCGAGACCCGACGC chr4:75360126-Reference-G;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Reference G gcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattattt CAGCAACCGCAA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAcagcaaccgcaaAGATCGAGACCCGACGC chr4:75360126-Reference-G;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative C gcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattattt ATAGGTGGAGGT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAataggtggaggtAGATCGAGACCCGACGC chr4:75360126-Alternative-C;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative C gcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattattt ACTCTAGGCCGT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAactctaggccgtAGATCGAGACCCGACGC chr4:75360126-Alternative-C;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Reference G gcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattattt AGGCGGTTGAGA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAaggcggttgagaAGATCGAGACCCGACGC chr4:75360126-Reference-G;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative T gcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattattt GTTGATGATCGT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAgttgatgatcgtAGATCGAGACCCGACGC chr4:75360126-Alternative-T;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative C gcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattattt GCATGCTTCGTC CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAgcatgcttcgtcAGATCGAGACCCGACGC chr4:75360126-Alternative-C;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative T gcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattattt GGTTGTTCACAT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAggttgttcacatAGATCGAGACCCGACGC chr4:75360126-Alternative-T;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative C gcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattattt GTTCTGAGTCAA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAgttctgagtcaaAGATCGAGACCCGACGC chr4:75360126-Alternative-C;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative T gcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattattt ACGAACATCGAA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAacgaacatcgaaAGATCGAGACCCGACGC chr4:75360126-Alternative-T;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Reference G gcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattattt CTTGCGCCTGAT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAActtgcgcctgatAGATCGAGACCCGACGC chr4:75360126-Reference-G;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative C gcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattattt CGTATATCGCTT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgCataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAcgtatatcgcttAGATCGAGACCCGACGC chr4:75360126-Alternative-C;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Variant A gcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattattt GGCGTCTAGAAG CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAggcgtctagaagAGATCGAGACCCGACGC chr4:75360126-Variant-A;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative T gcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattattt GGCCATCTCACA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAggccatctcacaAGATCGAGACCCGACGC chr4:75360126-Alternative-T;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Variant A gcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattattt GCATAATGTCGT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAgcataatgtcgtAGATCGAGACCCGACGC chr4:75360126-Variant-A;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Variant A gcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattattt CACGTATCTCTT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAcacgtatctcttAGATCGAGACCCGACGC chr4:75360126-Variant-A;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Alternative T gcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattattt ACGTGCGACGAA CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgTataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAacgtgcgacgaaAGATCGAGACCCGACGC chr4:75360126-Alternative-T;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Reference G gcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattattt CGACACCTAACC CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgGataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAcgacacctaaccAGATCGAGACCCGACGC chr4:75360126-Reference-G;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Variant A gcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattattt GAGGTACTACGG CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAgaggtactacggAGATCGAGACCCGACGC chr4:75360126-Variant-A;Patient-109 chr4:75360126-GA DeNovo Patient-109 intergenic NA 3.84e-05 -0.19 0.76 -0.66 AREG 49272 Variant A gcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattattt CGAATATGCTGT CGACGCGGTCTCTCTCTgcagatatctttacatttctttggataaatatccagaagagggattgctgAataatatgtagttctatttttaatttctttagaaatctccatattatttAGAGGGAGACGGACGTCTCAATAAcgaatatgctgtAGATCGAGACCCGACGC chr4:75360126-Variant-A;Patient-109 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Variant C caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CTAAGGCGCAAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAActaaggcgcaatAGATCGAGACCCGACGC chr4:76413293-Variant-C;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Variant C caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg ATCGTAGTTAGG CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAatcgtagttaggAGATCGAGACCCGACGC chr4:76413293-Variant-C;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Variant C caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AACACGCTTCAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAaacacgcttcatAGATCGAGACCCGACGC chr4:76413293-Variant-C;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Variant C caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AGACGGCATAAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAagacggcataatAGATCGAGACCCGACGC chr4:76413293-Variant-C;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Variant C caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AGGTAGCTCTAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgCtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAaggtagctctatAGATCGAGACCCGACGC chr4:76413293-Variant-C;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative A caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg GGATAGCTCTTA CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAggatagctcttaAGATCGAGACCCGACGC chr4:76413293-Alternative-A;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative G caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg ACTTAGTGCACA CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAacttagtgcacaAGATCGAGACCCGACGC chr4:76413293-Alternative-G;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative G caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CTGTCCGCTAGT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAActgtccgctagtAGATCGAGACCCGACGC chr4:76413293-Alternative-G;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative A caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg ACACGACACGAG CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAacacgacacgagAGATCGAGACCCGACGC chr4:76413293-Alternative-A;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative G caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CGGATCTTCTAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAcggatcttctatAGATCGAGACCCGACGC chr4:76413293-Alternative-G;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative G caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AACTTCAACGCT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAaacttcaacgctAGATCGAGACCCGACGC chr4:76413293-Alternative-G;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Reference T caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CATAACTGAACC CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAcataactgaaccAGATCGAGACCCGACGC chr4:76413293-Reference-T;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Reference T caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AATCGACGTCAC CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAaatcgacgtcacAGATCGAGACCCGACGC chr4:76413293-Reference-T;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative G caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg GTCGTTCACGCT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgGtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAgtcgttcacgctAGATCGAGACCCGACGC chr4:76413293-Alternative-G;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Reference T caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AGACTACGAACC CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAagactacgaaccAGATCGAGACCCGACGC chr4:76413293-Reference-T;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Reference T caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg GCAGCAAGAGAT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAgcagcaagagatAGATCGAGACCCGACGC chr4:76413293-Reference-T;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Reference T caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CATCCATAAGCA CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgTtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAcatccataagcaAGATCGAGACCCGACGC chr4:76413293-Reference-T;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative A caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg GTGAGAACTCGG CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAgtgagaactcggAGATCGAGACCCGACGC chr4:76413293-Alternative-A;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative A caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg AGTACTGACATC CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAagtactgacatcAGATCGAGACCCGACGC chr4:76413293-Alternative-A;Patient-55 chr4:76413293-TC DeNovo Patient-55 intronic RCHY1 NA 4.95e-05 0.17 5.45 0.11 RCHY1 26590 Alternative A caaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttg CGGAGTTGTGGT CGACGCGGTCTCTCTCTcaaagggcccctgcggtattcaaaagagaaaaaaatgattatttgatctgAtaaattacataggaagcactgtcaaataagaaatgatatttaacctttgAGAGGGAGACGGACGTCTCAATAAcggagttgtggtAGATCGAGACCCGACGC chr4:76413293-Alternative-A;Patient-55 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Variant G ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat CGTCAGGTAAGG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAcgtcaggtaaggAGATCGAGACCCGACGC chr4:76666498-Variant-G;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Reference A ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACAACAACTGAG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAacaacaactgagAGATCGAGACCCGACGC chr4:76666498-Reference-A;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Reference A ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACGTGGAATAAC CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAacgtggaataacAGATCGAGACCCGACGC chr4:76666498-Reference-A;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Reference A ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat GTGCGACATACT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAgtgcgacatactAGATCGAGACCCGACGC chr4:76666498-Reference-A;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative T ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat CACAATAGCGAA CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAcacaatagcgaaAGATCGAGACCCGACGC chr4:76666498-Alternative-T;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative T ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ATTAATACGCGG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAattaatacgcggAGATCGAGACCCGACGC chr4:76666498-Alternative-T;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative C ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat AATGCGCCTATA CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAaatgcgcctataAGATCGAGACCCGACGC chr4:76666498-Alternative-C;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative T ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ATTGAGGCCTAA CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAattgaggcctaaAGATCGAGACCCGACGC chr4:76666498-Alternative-T;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative C ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACATCGCAAGAT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAacatcgcaagatAGATCGAGACCCGACGC chr4:76666498-Alternative-C;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative C ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACGGCTCTTAGG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAacggctcttaggAGATCGAGACCCGACGC chr4:76666498-Alternative-C;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative T ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat GTAACCGATACG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAgtaaccgatacgAGATCGAGACCCGACGC chr4:76666498-Alternative-T;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Variant G ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACTTCGCCGCAT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAacttcgccgcatAGATCGAGACCCGACGC chr4:76666498-Variant-G;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative T ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat AACGAACTGCGG CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggTtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAaacgaactgcggAGATCGAGACCCGACGC chr4:76666498-Alternative-T;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Variant G ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat GTAGTACGACTT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAgtagtacgacttAGATCGAGACCCGACGC chr4:76666498-Variant-G;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Reference A ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ACCGTAGTAACC CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAaccgtagtaaccAGATCGAGACCCGACGC chr4:76666498-Reference-A;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative C ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat GGTTGTGTGCGT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAggttgtgtgcgtAGATCGAGACCCGACGC chr4:76666498-Alternative-C;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Variant G ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat AACCGAGTCTAC CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAaaccgagtctacAGATCGAGACCCGACGC chr4:76666498-Variant-G;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Alternative C ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat AGCAAGTTCCAT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggCtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAagcaagttccatAGATCGAGACCCGACGC chr4:76666498-Alternative-C;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Variant G ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat ATAGCGGTTCAT CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggGtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAatagcggttcatAGATCGAGACCCGACGC chr4:76666498-Variant-G;Patient-66 chr4:76666498-AG DeNovo Patient-66 intronic USO1 NA 0.00016 0.12 4.58 0.24 USO1 16493 Reference A ataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattat CGTTCCACCGAA CGACGCGGTCTCTCTCTataggtcgcttaatcatgaatagagcttgcaggaccagaagttgctctggAtgagtcaagtgagtgagtggtgaatgaatgtgaagaccaaggacattatAGAGGGAGACGGACGTCTCAATAAcgttccaccgaaAGATCGAGACCCGACGC chr4:76666498-Reference-A;Patient-66 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative G ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcact ACGACGTTACGT CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAacgacgttacgtAGATCGAGACCCGACGC chr4:76922075-Alternative-G;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative G ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcact CGCTAAGATCAT CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAcgctaagatcatAGATCGAGACCCGACGC chr4:76922075-Alternative-G;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative G ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcact CGAGCAGCTAAC CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAcgagcagctaacAGATCGAGACCCGACGC chr4:76922075-Alternative-G;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative G ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcact AGTATCCTTCGA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAagtatccttcgaAGATCGAGACCCGACGC chr4:76922075-Alternative-G;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Reference T ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcact ACGATGTGATGA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAacgatgtgatgaAGATCGAGACCCGACGC chr4:76922075-Reference-T;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Reference T ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcact AGGACACCATCG CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAaggacaccatcgAGATCGAGACCCGACGC chr4:76922075-Reference-T;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Reference T ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcact CATAGCTGACCA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAcatagctgaccaAGATCGAGACCCGACGC chr4:76922075-Reference-T;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative G ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcact GCCGCTATCAAT CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaGtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgccgctatcaatAGATCGAGACCCGACGC chr4:76922075-Alternative-G;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Reference T ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcact ATCGAGTCACTA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAatcgagtcactaAGATCGAGACCCGACGC chr4:76922075-Reference-T;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Reference T ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcact GCAATCGTAAGA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaTtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgcaatcgtaagaAGATCGAGACCCGACGC chr4:76922075-Reference-T;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Variant C ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcact ACCAAGTACGAG CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAaccaagtacgagAGATCGAGACCCGACGC chr4:76922075-Variant-C;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative A ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcact GGCGAAGTTACG CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAggcgaagttacgAGATCGAGACCCGACGC chr4:76922075-Alternative-A;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative A ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcact AGCCGTAACGCA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAagccgtaacgcaAGATCGAGACCCGACGC chr4:76922075-Alternative-A;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Variant C ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcact CTCTGGTCGAGA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAActctggtcgagaAGATCGAGACCCGACGC chr4:76922075-Variant-C;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative A ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcact GCGGTCGGATAT CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgcggtcggatatAGATCGAGACCCGACGC chr4:76922075-Alternative-A;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Variant C ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcact CTTGATGGCGAC CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAActtgatggcgacAGATCGAGACCCGACGC chr4:76922075-Variant-C;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative A ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcact GACCTTATGAAC CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgaccttatgaacAGATCGAGACCCGACGC chr4:76922075-Alternative-A;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Alternative A ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcact GACAAGATACGG CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaAtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgacaagatacggAGATCGAGACCCGACGC chr4:76922075-Alternative-A;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Variant C ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcact GACCGCGCAATA CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAAgaccgcgcaataAGATCGAGACCCGACGC chr4:76922075-Variant-C;Patient-55 chr4:76922075-TC Inherited Patient-55 intergenic NA 0.000513 -0.11 1.29 -1.41 NAAA 59908 Variant C ggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcact CTCTACAGGAGT CGACGCGGTCTCTCTCTggggacacacctcattggaatagtgttactcttgaggattaggaaatacaCtgaattctacataatgcttttttttttttttttttgacagagtctcactAGAGGGAGACGGACGTCTCAATAActctacaggagtAGATCGAGACCCGACGC chr4:76922075-Variant-C;Patient-55 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Reference G atattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CGCGTGCATATC CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAcgcgtgcatatcAGATCGAGACCCGACGC chr4:77915728-Reference-G;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative T atattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag ACCGATCTGTAA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAaccgatctgtaaAGATCGAGACCCGACGC chr4:77915728-Alternative-T;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative A atattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CTCGGTGTCGTT CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAActcggtgtcgttAGATCGAGACCCGACGC chr4:77915728-Alternative-A;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative A atattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag GACCTAACGAAC CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAgacctaacgaacAGATCGAGACCCGACGC chr4:77915728-Alternative-A;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Reference G atattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag ATTGATGTGCAC CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAattgatgtgcacAGATCGAGACCCGACGC chr4:77915728-Reference-G;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative A atattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag GCGTTGCATTAA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAgcgttgcattaaAGATCGAGACCCGACGC chr4:77915728-Alternative-A;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative T atattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CAAGCCTTAAGG CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAcaagccttaaggAGATCGAGACCCGACGC chr4:77915728-Alternative-T;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative T atattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CATCTGACGGAC CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAcatctgacggacAGATCGAGACCCGACGC chr4:77915728-Alternative-T;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative T atattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag ACTAAGGAGTCT CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAactaaggagtctAGATCGAGACCCGACGC chr4:77915728-Alternative-T;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative A atattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CGTCCGTGATTA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAcgtccgtgattaAGATCGAGACCCGACGC chr4:77915728-Alternative-A;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative A atattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag AGGAGATTGACA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctAttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAaggagattgacaAGATCGAGACCCGACGC chr4:77915728-Alternative-A;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Variant C atattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag GTCGAATCATCA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAgtcgaatcatcaAGATCGAGACCCGACGC chr4:77915728-Variant-C;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Variant C atattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag AGCCAAGATGTT CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAagccaagatgttAGATCGAGACCCGACGC chr4:77915728-Variant-C;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Variant C atattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag ATCGGATGACTA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAatcggatgactaAGATCGAGACCCGACGC chr4:77915728-Variant-C;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Reference G atattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag AAGATCGGTGAA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAaagatcggtgaaAGATCGAGACCCGACGC chr4:77915728-Reference-G;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Alternative T atattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag GGCGCAATATTA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctTttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAggcgcaatattaAGATCGAGACCCGACGC chr4:77915728-Alternative-T;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Reference G atattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag AGATCGATGAGA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAagatcgatgagaAGATCGAGACCCGACGC chr4:77915728-Reference-G;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Variant C atattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag CAGGACCGGTAT CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAcaggaccggtatAGATCGAGACCCGACGC chr4:77915728-Variant-C;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Variant C atattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag AGGTGTCGAGAT CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctCttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAaggtgtcgagatAGATCGAGACCCGACGC chr4:77915728-Variant-C;Patient-39 chr4:77915728-GC DeNovo Patient-39 intronic 43719 0.000732 0.000198 1.99 19.08 4.03 43719 44832 Reference G atattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcag GTCAAGATGTGA CGACGCGGTCTCTCTCTatattcactgttggcaggtttcaaggaaactattcatagactagacatctGttgtctgtcccattgacctcaaatctgcagctgccaccatggtattcagAGAGGGAGACGGACGTCTCAATAAgtcaagatgtgaAGATCGAGACCCGACGC chr4:77915728-Reference-G;Patient-39 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Variant G aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ACTGCGAATCGG CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAactgcgaatcggAGATCGAGACCCGACGC chr4:77952655-Variant-G;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Variant G aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CGAACGACTAGA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAcgaacgactagaAGATCGAGACCCGACGC chr4:77952655-Variant-G;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Variant G aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CATCTTATCGAG CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAcatcttatcgagAGATCGAGACCCGACGC chr4:77952655-Variant-G;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative C aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ACCAACTTCGGT CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAaccaacttcggtAGATCGAGACCCGACGC chr4:77952655-Alternative-C;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Variant G aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GGCGTGTACGAA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAggcgtgtacgaaAGATCGAGACCCGACGC chr4:77952655-Variant-G;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative C aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CACATAGTTCCT CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAcacatagttcctAGATCGAGACCCGACGC chr4:77952655-Alternative-C;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Variant G aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CTAAGTAGTCGT CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtGgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAActaagtagtcgtAGATCGAGACCCGACGC chr4:77952655-Variant-G;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative A aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ACAGCGTGTACA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAacagcgtgtacaAGATCGAGACCCGACGC chr4:77952655-Alternative-A;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative C aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CTTACCACGAGA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAActtaccacgagaAGATCGAGACCCGACGC chr4:77952655-Alternative-C;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Reference T aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CTCAAGTGTCGG CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAActcaagtgtcggAGATCGAGACCCGACGC chr4:77952655-Reference-T;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative A aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CTTGGTCTAGAA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAActtggtctagaaAGATCGAGACCCGACGC chr4:77952655-Alternative-A;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative C aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GTAGAGCGATGC CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAgtagagcgatgcAGATCGAGACCCGACGC chr4:77952655-Alternative-C;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Reference T aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GCCACTAACAAC CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAgccactaacaacAGATCGAGACCCGACGC chr4:77952655-Reference-T;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative C aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ACTAATTGGCGA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtCgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAactaattggcgaAGATCGAGACCCGACGC chr4:77952655-Alternative-C;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative A aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GTGCCTCGTGAA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAgtgcctcgtgaaAGATCGAGACCCGACGC chr4:77952655-Alternative-A;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative A aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt CGAGCAGTCAGA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAcgagcagtcagaAGATCGAGACCCGACGC chr4:77952655-Alternative-A;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Reference T aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GACTAATGACGA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAgactaatgacgaAGATCGAGACCCGACGC chr4:77952655-Reference-T;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Reference T aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ATTACTCCGGAA CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAattactccggaaAGATCGAGACCCGACGC chr4:77952655-Reference-T;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Reference T aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt ACTTAGGCTTCT CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtTgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAacttaggcttctAGATCGAGACCCGACGC chr4:77952655-Reference-T;Patient-33 chr4:77952655-TG DeNovo Patient-33 intronic 43719 NA 4.95e-05 NA NA NA 43719 81759 Alternative A aatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggtt GTGACGATGTGG CGACGCGGTCTCTCTCTaatatgatgaattgttttattgtgaaatgggatccaaatgcctatccagtAgacacctctgccaacctcaagccaaacctaaacccattcataaaaggttAGAGGGAGACGGACGTCTCAATAAgtgacgatgtggAGATCGAGACCCGACGC chr4:77952655-Alternative-A;Patient-33 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative C gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CATTCAGCGGCA CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcattcagcggcaAGATCGAGACCCGACGC chr4:78758416-Alternative-C;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative C gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CACTTATTCACG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcacttattcacgAGATCGAGACCCGACGC chr4:78758416-Alternative-C;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative C gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg ACGCGTGATACT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAacgcgtgatactAGATCGAGACCCGACGC chr4:78758416-Alternative-C;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative C gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg ACGATAGTTGCT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAacgatagttgctAGATCGAGACCCGACGC chr4:78758416-Alternative-C;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative C gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CACTAGGTGGAG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcCctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcactaggtggagAGATCGAGACCCGACGC chr4:78758416-Alternative-C;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Reference A gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CTGTGCAACAAC CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAActgtgcaacaacAGATCGAGACCCGACGC chr4:78758416-Reference-A;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Reference A gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CTTGAGTTGGAT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAActtgagttggatAGATCGAGACCCGACGC chr4:78758416-Reference-A;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Reference A gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GTTCGCTTCGGT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgttcgcttcggtAGATCGAGACCCGACGC chr4:78758416-Reference-A;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Reference A gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GATAAGGCTACA CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgataaggctacaAGATCGAGACCCGACGC chr4:78758416-Reference-A;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Variant G gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg AGTTCGCTTCTT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAagttcgcttcttAGATCGAGACCCGACGC chr4:78758416-Variant-G;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Variant G gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GTGCTCCTATAT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgtgctcctatatAGATCGAGACCCGACGC chr4:78758416-Variant-G;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Variant G gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GTAGGTGAATCA CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgtaggtgaatcaAGATCGAGACCCGACGC chr4:78758416-Variant-G;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Reference A gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GGACAGACTAAG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcActagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAggacagactaagAGATCGAGACCCGACGC chr4:78758416-Reference-A;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Variant G gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CGATTGCAGACT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcgattgcagactAGATCGAGACCCGACGC chr4:78758416-Variant-G;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative T gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CTACAACTATGG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAActacaactatggAGATCGAGACCCGACGC chr4:78758416-Alternative-T;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative T gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GCGATAGTGTAA CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgcgatagtgtaaAGATCGAGACCCGACGC chr4:78758416-Alternative-T;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative T gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg ATACCAAGAACG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAataccaagaacgAGATCGAGACCCGACGC chr4:78758416-Alternative-T;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative T gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CGTGATTACTGA CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcgtgattactgaAGATCGAGACCCGACGC chr4:78758416-Alternative-T;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Alternative T gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg GTACTGAACAAG CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcTctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAgtactgaacaagAGATCGAGACCCGACGC chr4:78758416-Alternative-T;Patient-55 chr4:78758416-AG DeNovo Patient-55 intergenic NA 0.000513 -0.14 1.09 -2.39 MRPL1 25388 Variant G gcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctggg CAGCGGCTTGAT CGACGCGGTCTCTCTCTgcaactactaatgcagatagtaagtggactctgtagatccaaataattgcGctagaatcaaagaactctctttgagtctatttcaaagactgaggctgggAGAGGGAGACGGACGTCTCAATAAcagcggcttgatAGATCGAGACCCGACGC chr4:78758416-Variant-G;Patient-55 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative A taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaactttt AGGTGGAGAATA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAaggtggagaataAGATCGAGACCCGACGC chr4:79016282-Alternative-A;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative A taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GGTGTCGTGACT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAggtgtcgtgactAGATCGAGACCCGACGC chr4:79016282-Alternative-A;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Reference C taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CTCGGCTTGACA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAActcggcttgacaAGATCGAGACCCGACGC chr4:79016282-Reference-C;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Reference C taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaactttt AGAGCACACGCA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAagagcacacgcaAGATCGAGACCCGACGC chr4:79016282-Reference-C;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Reference C taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GCGCACCAATAT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAgcgcaccaatatAGATCGAGACCCGACGC chr4:79016282-Reference-C;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Reference C taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GTAACAGGTCGG CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAgtaacaggtcggAGATCGAGACCCGACGC chr4:79016282-Reference-C;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative A taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GGTTAGCATGGT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAggttagcatggtAGATCGAGACCCGACGC chr4:79016282-Alternative-A;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative A taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GAGAGTTAACAG CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAgagagttaacagAGATCGAGACCCGACGC chr4:79016282-Alternative-A;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Reference C taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaactttt AGTCTCGGAGCA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcCggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAagtctcggagcaAGATCGAGACCCGACGC chr4:79016282-Reference-C;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative A taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GGTAGTTCCAAG CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcAggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAggtagttccaagAGATCGAGACCCGACGC chr4:79016282-Alternative-A;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Variant T taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CAGATCATGCCT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAcagatcatgcctAGATCGAGACCCGACGC chr4:79016282-Variant-T;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Variant T taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaactttt AGCCGTCTATAA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAagccgtctataaAGATCGAGACCCGACGC chr4:79016282-Variant-T;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative G taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CATAGCCGGACA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAcatagccggacaAGATCGAGACCCGACGC chr4:79016282-Alternative-G;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Variant T taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GAGAGCAAGAAG CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAgagagcaagaagAGATCGAGACCCGACGC chr4:79016282-Variant-T;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative G taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaactttt GACGACACGCAA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAgacgacacgcaaAGATCGAGACCCGACGC chr4:79016282-Alternative-G;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Variant T taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CGTCCTATCACA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAcgtcctatcacaAGATCGAGACCCGACGC chr4:79016282-Variant-T;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative G taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CGTAATCGGATT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAcgtaatcggattAGATCGAGACCCGACGC chr4:79016282-Alternative-G;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Variant T taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaactttt CGATCTGTGTGG CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcTggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAcgatctgtgtggAGATCGAGACCCGACGC chr4:79016282-Variant-T;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative G taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaactttt ACTCGCCACATT CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAactcgccacattAGATCGAGACCCGACGC chr4:79016282-Alternative-G;Patient-93 chr4:79016282-CT Inherited Patient-93 intronic FRAS1 0.000159 4.19e-05 -0.33 0.3 -5.5 FRAS1 37557 Alternative G taataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaactttt AGGCTCTCACGA CGACGCGGTCTCTCTCTtaataaaagcaatgtaatatcagtaaataaataaatgcttaaaacttgtcGggttgactggataaatctctattttgtatttaaaaatgttgaaacttttAGAGGGAGACGGACGTCTCAATAAaggctctcacgaAGATCGAGACCCGACGC chr4:79016282-Alternative-G;Patient-93 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative C ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CTAGTCGCTAGG CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAActagtcgctaggAGATCGAGACCCGACGC chr4:807247-Alternative-C;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Variant A ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct AGGTATCGAGTT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAaggtatcgagttAGATCGAGACCCGACGC chr4:807247-Variant-A;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative C ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GCGGTCGACATT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAgcggtcgacattAGATCGAGACCCGACGC chr4:807247-Alternative-C;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative T ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct ACGCAAGTTCCT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAacgcaagttcctAGATCGAGACCCGACGC chr4:807247-Alternative-T;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Variant A ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CGGATATGGTAA CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAcggatatggtaaAGATCGAGACCCGACGC chr4:807247-Variant-A;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative C ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct ACTGTCAAGCAT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAactgtcaagcatAGATCGAGACCCGACGC chr4:807247-Alternative-C;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Variant A ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct ACATCGACGACT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAacatcgacgactAGATCGAGACCCGACGC chr4:807247-Variant-A;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative T ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GCGAGAGGCATT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAgcgagaggcattAGATCGAGACCCGACGC chr4:807247-Alternative-T;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Variant A ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CGGTAGTACAAG CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAcggtagtacaagAGATCGAGACCCGACGC chr4:807247-Variant-A;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative T ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CTGCTCATGCGT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAActgctcatgcgtAGATCGAGACCCGACGC chr4:807247-Alternative-T;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Reference G ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CTCGTTAACGAA CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAActcgttaacgaaAGATCGAGACCCGACGC chr4:807247-Reference-G;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative C ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GGTGGAGCTCTT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAggtggagctcttAGATCGAGACCCGACGC chr4:807247-Alternative-C;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Variant A ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct ACCGTTATCGGC CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaAgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAaccgttatcggcAGATCGAGACCCGACGC chr4:807247-Variant-A;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative T ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GCCAATGATAGT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAgccaatgatagtAGATCGAGACCCGACGC chr4:807247-Alternative-T;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative C ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GTTATCGTCTAC CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaCgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAgttatcgtctacAGATCGAGACCCGACGC chr4:807247-Alternative-C;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Reference G ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct GTGAATTCGTGT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAgtgaattcgtgtAGATCGAGACCCGACGC chr4:807247-Reference-G;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Reference G ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct ACCGAGTACGCT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAaccgagtacgctAGATCGAGACCCGACGC chr4:807247-Reference-G;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Alternative T ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CGCAATTGACCG CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaTgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAcgcaattgaccgAGATCGAGACCCGACGC chr4:807247-Alternative-T;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Reference G ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct AAGACTATCGCT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAaagactatcgctAGATCGAGACCCGACGC chr4:807247-Reference-G;Patient-110 chr4:807247-GA Inherited Patient-110 intronic CPLX1 NA 3.98e-05 0.32 7.44 0.98 CPLX1 12697 Reference G ctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtct CACGCGATCTGT CGACGCGGTCTCTCTCTctgagaagctgaccagccgggcagaaccccaggaagactctgggactggaGgccctgctgtcaggcgagtggggcagacatgagggatggtgaaaggtctAGAGGGAGACGGACGTCTCAATAAcacgcgatctgtAGATCGAGACCCGACGC chr4:807247-Reference-G;Patient-110 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Variant T gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GTACTCCAGTAA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgtactccagtaaAGATCGAGACCCGACGC chr4:82092280-Variant-T;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Variant T gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CTGTGTCGGCAA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAActgtgtcggcaaAGATCGAGACCCGACGC chr4:82092280-Variant-T;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Variant T gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GTAACGTGCGTC CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgtaacgtgcgtcAGATCGAGACCCGACGC chr4:82092280-Variant-T;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Variant T gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GTTCGCCAGGAT CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgttcgccaggatAGATCGAGACCCGACGC chr4:82092280-Variant-T;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative G gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CGATTGTCAAGT CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAcgattgtcaagtAGATCGAGACCCGACGC chr4:82092280-Alternative-G;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative G gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CAGTAAGCGTGC CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAcagtaagcgtgcAGATCGAGACCCGACGC chr4:82092280-Alternative-G;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative G gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GCATACCATCGA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgcataccatcgaAGATCGAGACCCGACGC chr4:82092280-Alternative-G;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Variant T gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GTGGCAATACTT CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcTccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgtggcaatacttAGATCGAGACCCGACGC chr4:82092280-Variant-T;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative A gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GATAATTGCCGA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgataattgccgaAGATCGAGACCCGACGC chr4:82092280-Alternative-A;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative A gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctcc AGCGTTGGCGAA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAagcgttggcgaaAGATCGAGACCCGACGC chr4:82092280-Alternative-A;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative G gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CTGCGCTAACAG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAActgcgctaacagAGATCGAGACCCGACGC chr4:82092280-Alternative-G;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative G gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GAATGACCGTGG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcGccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgaatgaccgtggAGATCGAGACCCGACGC chr4:82092280-Alternative-G;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Reference C gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CTATCGCGCATC CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAActatcgcgcatcAGATCGAGACCCGACGC chr4:82092280-Reference-C;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Reference C gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GCGGAATATCGG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgcggaatatcggAGATCGAGACCCGACGC chr4:82092280-Reference-C;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative A gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CACGGCCAAGTT CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAcacggccaagttAGATCGAGACCCGACGC chr4:82092280-Alternative-A;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative A gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctcc GCCGGCATACTT CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAgccggcatacttAGATCGAGACCCGACGC chr4:82092280-Alternative-A;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Reference C gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctcc AGAGTATCCGCG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAagagtatccgcgAGATCGAGACCCGACGC chr4:82092280-Reference-C;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Reference C gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CGGTAACTATGG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAcggtaactatggAGATCGAGACCCGACGC chr4:82092280-Reference-C;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Reference C gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctcc AAGTCGCTATCA CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcCccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAAaagtcgctatcaAGATCGAGACCCGACGC chr4:82092280-Reference-C;Patient-79 chr4:82092280-CT DeNovo Patient-79 intronic PRKG2 NA 4.95e-05 0.06 3.65 0.24 PRKG2 33934 Alternative A gtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctcc CTGGTAGCTACG CGACGCGGTCTCTCTCTgtgctgtggtgctttgctgcaactatcaacttaacacctaggtatttagcAccgcatacatcagctatttatcctgatgctctccctcccccacccctccAGAGGGAGACGGACGTCTCAATAActggtagctacgAGATCGAGACCCGACGC chr4:82092280-Alternative-A;Patient-79 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Variant A cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ATAGCGCGTACG CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAatagcgcgtacgAGATCGAGACCCGACGC chr4:84176995-Variant-A;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative G cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct GACTACGTAGTT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAgactacgtagttAGATCGAGACCCGACGC chr4:84176995-Alternative-G;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative G cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct GTAATATAGCGG CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAgtaatatagcggAGATCGAGACCCGACGC chr4:84176995-Alternative-G;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative G cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct AGGTTGCGGTCA CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAaggttgcggtcaAGATCGAGACCCGACGC chr4:84176995-Alternative-G;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative G cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ACTACCGGACCT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAactaccggacctAGATCGAGACCCGACGC chr4:84176995-Alternative-G;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Variant A cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct AAGATTCGGAGT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAaagattcggagtAGATCGAGACCCGACGC chr4:84176995-Variant-A;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Reference T cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct GCGCAATCGAAC CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAgcgcaatcgaacAGATCGAGACCCGACGC chr4:84176995-Reference-T;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Reference T cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct CAATTGACTCGT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAcaattgactcgtAGATCGAGACCCGACGC chr4:84176995-Reference-T;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative C cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ATTCCAAGCGTT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAattccaagcgttAGATCGAGACCCGACGC chr4:84176995-Alternative-C;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Reference T cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ACCGTCATCTAT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAaccgtcatctatAGATCGAGACCCGACGC chr4:84176995-Reference-T;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative G cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ATCAAGAGCCTA CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaGaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAatcaagagcctaAGATCGAGACCCGACGC chr4:84176995-Alternative-G;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative C cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct CGGAGTTGCTGA CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAcggagttgctgaAGATCGAGACCCGACGC chr4:84176995-Alternative-C;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative C cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct GTTGTATCTCGT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAgttgtatctcgtAGATCGAGACCCGACGC chr4:84176995-Alternative-C;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative C cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct CTTACTCGATGT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAActtactcgatgtAGATCGAGACCCGACGC chr4:84176995-Alternative-C;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Reference T cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct AGTGACGCGGTT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAagtgacgcggttAGATCGAGACCCGACGC chr4:84176995-Reference-T;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Reference T cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ACTTAGTCGGCG CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaTaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAacttagtcggcgAGATCGAGACCCGACGC chr4:84176995-Reference-T;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Alternative C cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct AGCTCGTCTAGG CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaCaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAagctcgtctaggAGATCGAGACCCGACGC chr4:84176995-Alternative-C;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Variant A cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct GAAGATCCTTGT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAgaagatccttgtAGATCGAGACCCGACGC chr4:84176995-Variant-A;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Variant A cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ACTTGCCGGCTT CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAacttgccggcttAGATCGAGACCCGACGC chr4:84176995-Variant-A;Patient-75 chr4:84176995-TA DeNovo Patient-75 intergenic 0.000543 0.002561475 0.32 7.46 1.35 HPSE 79310 Variant A cccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgct ACTGAACGCCTA CGACGCGGTCTCTCTCTcccaataattctttcccagatgctgtgttgacatttctactgcttaagtaAaaagcaagtaaaagccatgattatttcagtttgttactatgccaatgctAGAGGGAGACGGACGTCTCAATAAactgaacgcctaAGATCGAGACCCGACGC chr4:84176995-Variant-A;Patient-75 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative G tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta GTTGTGGTAACT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAgttgtggtaactAGATCGAGACCCGACGC chr4:84207661-Alternative-G;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Variant T tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACGTTGTCATGA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacgttgtcatgaAGATCGAGACCCGACGC chr4:84207661-Variant-T;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative G tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACTAGCCAAGAT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAactagccaagatAGATCGAGACCCGACGC chr4:84207661-Alternative-G;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative G tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACAAGCGACGGT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacaagcgacggtAGATCGAGACCCGACGC chr4:84207661-Alternative-G;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative C tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACGAATACGTGA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacgaatacgtgaAGATCGAGACCCGACGC chr4:84207661-Alternative-C;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Variant T tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta AGTCGAAGGTTA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAagtcgaaggttaAGATCGAGACCCGACGC chr4:84207661-Variant-T;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative G tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACAGCGAAGTCA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacagcgaagtcaAGATCGAGACCCGACGC chr4:84207661-Alternative-G;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Variant T tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACACGACGATAA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacacgacgataaAGATCGAGACCCGACGC chr4:84207661-Variant-T;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Variant T tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACCACAATCTGG CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAaccacaatctggAGATCGAGACCCGACGC chr4:84207661-Variant-T;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Reference A tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta CACAGATAACGA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAcacagataacgaAGATCGAGACCCGACGC chr4:84207661-Reference-A;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative G tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta GACCTTAACGCG CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaGaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAgaccttaacgcgAGATCGAGACCCGACGC chr4:84207661-Alternative-G;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Variant T tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACTCCACGAATA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaTaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAactccacgaataAGATCGAGACCCGACGC chr4:84207661-Variant-T;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative C tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta ACGCTTCGCGTT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAacgcttcgcgttAGATCGAGACCCGACGC chr4:84207661-Alternative-C;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative C tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta GTAACAACGCAA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAgtaacaacgcaaAGATCGAGACCCGACGC chr4:84207661-Alternative-C;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative C tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta CTTATCGTGCTA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAActtatcgtgctaAGATCGAGACCCGACGC chr4:84207661-Alternative-C;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Reference A tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta CAACTCTGGTTC CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAcaactctggttcAGATCGAGACCCGACGC chr4:84207661-Reference-A;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Reference A tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta GCGACGTAGTCA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAgcgacgtagtcaAGATCGAGACCCGACGC chr4:84207661-Reference-A;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Reference A tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta CTTAACATCGCT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAActtaacatcgctAGATCGAGACCCGACGC chr4:84207661-Reference-A;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Reference A tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta GGTCGAACTAAT CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaAaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAggtcgaactaatAGATCGAGACCCGACGC chr4:84207661-Reference-A;Patient-57 chr4:84207661-AT DeNovo Patient-57 intergenic 9.6e-05 0.000513 0 2.67 -0.87 COQ2 1593 Alternative C tgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagta AGTCGTATTGCA CGACGCGGTCTCTCTCTtgtattgcatccatgactttccaatataggtccaaactctttgtttaaaaCaatatattaagaatttcaagatggcaacagcaggacattaaaccaagtaAGAGGGAGACGGACGTCTCAATAAagtcgtattgcaAGATCGAGACCCGACGC chr4:84207661-Alternative-C;Patient-57 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Reference G gcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctct ACGTCTGTACTT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAacgtctgtacttAGATCGAGACCCGACGC chr4:87899681-Reference-G;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Reference G gcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CTCGGCGATTCT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAActcggcgattctAGATCGAGACCCGACGC chr4:87899681-Reference-G;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative T gcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CGATTGTACGCG CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcgattgtacgcgAGATCGAGACCCGACGC chr4:87899681-Alternative-T;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative T gcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GTTCGTAAGGCA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgttcgtaaggcaAGATCGAGACCCGACGC chr4:87899681-Alternative-T;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative T gcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CGGATATACTGA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcggatatactgaAGATCGAGACCCGACGC chr4:87899681-Alternative-T;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative T gcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CGTGCAGCGTTA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcgtgcagcgttaAGATCGAGACCCGACGC chr4:87899681-Alternative-T;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Variant A gcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CTTACTTGTCGA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAActtacttgtcgaAGATCGAGACCCGACGC chr4:87899681-Variant-A;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative T gcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CTGTGTCTTCTT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataTtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAActgtgtcttcttAGATCGAGACCCGACGC chr4:87899681-Alternative-T;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Variant A gcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctct ACGACGATGCGA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAacgacgatgcgaAGATCGAGACCCGACGC chr4:87899681-Variant-A;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Reference G gcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GTGACGTAGTGG CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgtgacgtagtggAGATCGAGACCCGACGC chr4:87899681-Reference-G;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Reference G gcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctct ACTATGCTCCGC CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAactatgctccgcAGATCGAGACCCGACGC chr4:87899681-Reference-G;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative C gcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctct ATAGCATCTGCA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAatagcatctgcaAGATCGAGACCCGACGC chr4:87899681-Alternative-C;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Variant A gcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GCGATTGTTAGA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgcgattgttagaAGATCGAGACCCGACGC chr4:87899681-Variant-A;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Variant A gcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CGAATAGTCACG CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcgaatagtcacgAGATCGAGACCCGACGC chr4:87899681-Variant-A;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative C gcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GCCGACGATTGT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgccgacgattgtAGATCGAGACCCGACGC chr4:87899681-Alternative-C;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Reference G gcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctct ACCACGCCAGTT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataGtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAaccacgccagttAGATCGAGACCCGACGC chr4:87899681-Reference-G;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative C gcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GCCGGTCATGAA CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgccggtcatgaaAGATCGAGACCCGACGC chr4:87899681-Alternative-C;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative C gcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CATAGCGTGATT CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcatagcgtgattAGATCGAGACCCGACGC chr4:87899681-Alternative-C;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Alternative C gcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctct GATAGTGCATGC CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataCtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAgatagtgcatgcAGATCGAGACCCGACGC chr4:87899681-Alternative-C;Patient-54 chr4:87899681-GA DeNovo Patient-54 intronic AFF1 3.2e-05 4.95e-05 0.14 4.95 0.63 AFF1 43526 Variant A gcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctct CATTCTTGTACG CGACGCGGTCTCTCTCTgcctacattcacttttatattatgatagaatctgtctagtaaatttcataAtgtagtttctttttaaatttttattcttttggagacagggtcttgctctAGAGGGAGACGGACGTCTCAATAAcattcttgtacgAGATCGAGACCCGACGC chr4:87899681-Variant-A;Patient-54 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative C attatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatat AGCATACTGACC CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAagcatactgaccAGATCGAGACCCGACGC chr4:88148128-Alternative-C;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Reference A attatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatat CTTGAGTGATCA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAActtgagtgatcaAGATCGAGACCCGACGC chr4:88148128-Reference-A;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative C attatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatat GAATGCCGCTGT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgaatgccgctgtAGATCGAGACCCGACGC chr4:88148128-Alternative-C;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Reference A attatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatat GTGTCTATTCGT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgtgtctattcgtAGATCGAGACCCGACGC chr4:88148128-Reference-A;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Reference A attatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatat GCAGGACGGTTA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgcaggacggttaAGATCGAGACCCGACGC chr4:88148128-Reference-A;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Variant T attatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatat GGTCACGTACGT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAggtcacgtacgtAGATCGAGACCCGACGC chr4:88148128-Variant-T;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Variant T attatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatat CTTACGCTCATA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAActtacgctcataAGATCGAGACCCGACGC chr4:88148128-Variant-T;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Variant T attatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatat AACGCGACCAGT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAaacgcgaccagtAGATCGAGACCCGACGC chr4:88148128-Variant-T;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Variant T attatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatat GCACGAAGTCAA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgcacgaagtcaaAGATCGAGACCCGACGC chr4:88148128-Variant-T;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Reference A attatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatat ATCGAAGCAGCA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAatcgaagcagcaAGATCGAGACCCGACGC chr4:88148128-Reference-A;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative G attatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatat GGTAGTAGAGCA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAggtagtagagcaAGATCGAGACCCGACGC chr4:88148128-Alternative-G;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative G attatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatat ACCGTAAGTAAG CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAaccgtaagtaagAGATCGAGACCCGACGC chr4:88148128-Alternative-G;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Reference A attatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatat GTTACCGTGACG CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataAataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgttaccgtgacgAGATCGAGACCCGACGC chr4:88148128-Reference-A;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative G attatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatat ATCCGTAGTGAA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAatccgtagtgaaAGATCGAGACCCGACGC chr4:88148128-Alternative-G;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative G attatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatat AGTACGTGCGCT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAagtacgtgcgctAGATCGAGACCCGACGC chr4:88148128-Alternative-G;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative G attatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatat GGACATGTCTAC CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataGataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAggacatgtctacAGATCGAGACCCGACGC chr4:88148128-Alternative-G;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Variant T attatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatat CTGCGCTTAGTC CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataTataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAActgcgcttagtcAGATCGAGACCCGACGC chr4:88148128-Variant-T;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative C attatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatat AGCGCGCTAACT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAagcgcgctaactAGATCGAGACCCGACGC chr4:88148128-Alternative-C;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative C attatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatat GCAGCTATGCGT CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAgcagctatgcgtAGATCGAGACCCGACGC chr4:88148128-Alternative-C;Patient-55 chr4:88148128-AT DeNovo Patient-55 intergenic 0.000222 0.0159 -0.17 0.89 0 KLHL8 6453 Alternative C attatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatat ACCGCAGCTTAA CGACGCGGTCTCTCTCTattatatataaataatatatattatatataagtaatatatattatatataCataatatataatatataaataatatatattatatataaataatatatatAGAGGGAGACGGACGTCTCAATAAaccgcagcttaaAGATCGAGACCCGACGC chr4:88148128-Alternative-C;Patient-55 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative T tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg GGACGTGTGACA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAggacgtgtgacaAGATCGAGACCCGACGC chr4:88434456-Alternative-T;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative T tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CAATGGATACGA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcaatggatacgaAGATCGAGACCCGACGC chr4:88434456-Alternative-T;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative C tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg ATCACGCTTGAT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAatcacgcttgatAGATCGAGACCCGACGC chr4:88434456-Alternative-C;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Variant G tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CAAGAGTGTAGT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcaagagtgtagtAGATCGAGACCCGACGC chr4:88434456-Variant-G;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative C tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CGAGAATGTCAA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcgagaatgtcaaAGATCGAGACCCGACGC chr4:88434456-Alternative-C;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative C tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CTCTACACACGT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAActctacacacgtAGATCGAGACCCGACGC chr4:88434456-Alternative-C;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Variant G tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg AATGCGTCGTAA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAaatgcgtcgtaaAGATCGAGACCCGACGC chr4:88434456-Variant-G;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative C tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg ACTGTCGACACG CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAactgtcgacacgAGATCGAGACCCGACGC chr4:88434456-Alternative-C;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative C tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CTAACGATACGG CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaCatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAActaacgatacggAGATCGAGACCCGACGC chr4:88434456-Alternative-C;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Variant G tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg AGAATCATGCAG CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAagaatcatgcagAGATCGAGACCCGACGC chr4:88434456-Variant-G;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Variant G tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg GGCTGATCATAT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAggctgatcatatAGATCGAGACCCGACGC chr4:88434456-Variant-G;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative T tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg GGTAGATTAACG CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAggtagattaacgAGATCGAGACCCGACGC chr4:88434456-Alternative-T;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative T tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CGATGTTCGTCC CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcgatgttcgtccAGATCGAGACCCGACGC chr4:88434456-Alternative-T;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Variant G tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CGGAATTGGTGG CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaGatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcggaattggtggAGATCGAGACCCGACGC chr4:88434456-Variant-G;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Reference A tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CGATACCAAGTT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcgataccaagttAGATCGAGACCCGACGC chr4:88434456-Reference-A;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Reference A tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CAGTCCGTCAGA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcagtccgtcagaAGATCGAGACCCGACGC chr4:88434456-Reference-A;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Reference A tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg GAATGTCGTTGT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAgaatgtcgttgtAGATCGAGACCCGACGC chr4:88434456-Reference-A;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Alternative T tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CTGCGCTAAGGT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaTatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAActgcgctaaggtAGATCGAGACCCGACGC chr4:88434456-Alternative-T;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Reference A tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CTGCGAGGTGTT CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAActgcgaggtgttAGATCGAGACCCGACGC chr4:88434456-Reference-A;Patient-91 chr4:88434456-AG Inherited Patient-91 intronic SPARCL1 0.000191 0.00016 -0.06 1.87 -1.49 SPARCL1 16198 Reference A tttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttgg CGGACCATGACA CGACGCGGTCTCTCTCTtttttaaatgtaaagaaacagaaatttgaagagtctaaattatttggccaAatgtacaaggcttaagaggtgggcaagaattagaaacgctgagctttggAGAGGGAGACGGACGTCTCAATAAcggaccatgacaAGATCGAGACCCGACGC chr4:88434456-Reference-A;Patient-91 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Reference C attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaa AACTCGCACGAG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAaactcgcacgagAGATCGAGACCCGACGC chr4:95280295-Reference-C;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Reference C attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGTCCGGAGCTA CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagtccggagctaAGATCGAGACCCGACGC chr4:95280295-Reference-C;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Variant T attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaa GTAGCTAGCGGT CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAgtagctagcggtAGATCGAGACCCGACGC chr4:95280295-Variant-T;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Reference C attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaa CGGTAACATTCT CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAcggtaacattctAGATCGAGACCCGACGC chr4:95280295-Reference-C;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative A attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaa GTCGTACAAGCG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAgtcgtacaagcgAGATCGAGACCCGACGC chr4:95280295-Alternative-A;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Variant T attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGTGTTCCGACG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagtgttccgacgAGATCGAGACCCGACGC chr4:95280295-Variant-T;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative A attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGCAGTTCCAAT CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagcagttccaatAGATCGAGACCCGACGC chr4:95280295-Alternative-A;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Variant T attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaa CGTATCACTATC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAcgtatcactatcAGATCGAGACCCGACGC chr4:95280295-Variant-T;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative A attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaa CGAGAGCAAGAT CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAcgagagcaagatAGATCGAGACCCGACGC chr4:95280295-Alternative-A;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative A attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaa CGACTAACGACC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAcgactaacgaccAGATCGAGACCCGACGC chr4:95280295-Alternative-A;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Variant T attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaa CAACACAGCACG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAcaacacagcacgAGATCGAGACCCGACGC chr4:95280295-Variant-T;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative A attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaa ACGCTTCCTGAC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaAtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAacgcttcctgacAGATCGAGACCCGACGC chr4:95280295-Alternative-A;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative G attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaa GCCAGAAGCAAG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAgccagaagcaagAGATCGAGACCCGACGC chr4:95280295-Alternative-G;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative G attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaa CTCGGATATCGG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAActcggatatcggAGATCGAGACCCGACGC chr4:95280295-Alternative-G;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Variant T attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaa GTTCGCTTCGAC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaTtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAgttcgcttcgacAGATCGAGACCCGACGC chr4:95280295-Variant-T;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative G attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGTAGGACCTAC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagtaggacctacAGATCGAGACCCGACGC chr4:95280295-Alternative-G;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative G attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaa AATCAAGTGGCA CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAaatcaagtggcaAGATCGAGACCCGACGC chr4:95280295-Alternative-G;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Alternative G attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaa GATACGATGCGG CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaGtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAgatacgatgcggAGATCGAGACCCGACGC chr4:95280295-Alternative-G;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Reference C attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGACCGCATTAT CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagaccgcattatAGATCGAGACCCGACGC chr4:95280295-Reference-C;Patient-77 chr4:95280295-CT DeNovo Patient-77 intergenic NA 0.000513 NA NA NA PDLIM5 92712 Reference C attatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaa AGATTGAACCGC CGACGCGGTCTCTCTCTattatttgatgaagtggaatattgatcattcaggtgcctaagtactgacaCtattttttaattcttacactgtttcacactgaatggaaatataatccaaAGAGGGAGACGGACGTCTCAATAAagattgaaccgcAGATCGAGACCCGACGC chr4:95280295-Reference-C;Patient-77 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative G aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat CGATAGCCATGA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAcgatagccatgaAGATCGAGACCCGACGC chr4:96808917-Alternative-G;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative G aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GATCAGCGTTCG CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgatcagcgttcgAGATCGAGACCCGACGC chr4:96808917-Alternative-G;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative G aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GGTAGGTGATAT CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAggtaggtgatatAGATCGAGACCCGACGC chr4:96808917-Alternative-G;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative G aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat CGTGATCGATGC CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAcgtgatcgatgcAGATCGAGACCCGACGC chr4:96808917-Alternative-G;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative G aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat AATGAGCAACCA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccGaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAaatgagcaaccaAGATCGAGACCCGACGC chr4:96808917-Alternative-G;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Variant T aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GTAACGCCAGTC CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgtaacgccagtcAGATCGAGACCCGACGC chr4:96808917-Variant-T;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Variant T aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GCATGATGCGGT CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgcatgatgcggtAGATCGAGACCCGACGC chr4:96808917-Variant-T;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Variant T aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat ATTCGGACGTTA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAattcggacgttaAGATCGAGACCCGACGC chr4:96808917-Variant-T;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Variant T aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat AAGAACGGAGAA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAaagaacggagaaAGATCGAGACCCGACGC chr4:96808917-Variant-T;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative A aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat ACTATCGGTGAT CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAactatcggtgatAGATCGAGACCCGACGC chr4:96808917-Alternative-A;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative A aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GATACGAATGCA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgatacgaatgcaAGATCGAGACCCGACGC chr4:96808917-Alternative-A;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Reference C aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat ATCTTGCGACAT CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAatcttgcgacatAGATCGAGACCCGACGC chr4:96808917-Reference-C;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Variant T aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GCGACTATCACA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccTaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgcgactatcacaAGATCGAGACCCGACGC chr4:96808917-Variant-T;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Reference C aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat CGACACGGTGAA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAcgacacggtgaaAGATCGAGACCCGACGC chr4:96808917-Reference-C;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative A aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat ATCTGCATTGTC CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAatctgcattgtcAGATCGAGACCCGACGC chr4:96808917-Alternative-A;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative A aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GTGATACATTCG CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgtgatacattcgAGATCGAGACCCGACGC chr4:96808917-Alternative-A;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Reference C aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat ATCTATCTGCAC CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAatctatctgcacAGATCGAGACCCGACGC chr4:96808917-Reference-C;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Reference C aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GGCGAGCATTCT CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAggcgagcattctAGATCGAGACCCGACGC chr4:96808917-Reference-C;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Alternative A aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat GCCGAACGCTAA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccAaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAAgccgaacgctaaAGATCGAGACCCGACGC chr4:96808917-Alternative-A;Patient-32 chr4:96808917-CT DeNovo Patient-32 intergenic NA 0.000513 2.2 21.3 4.46 PDHA2 47677 Reference C aggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaat CTGGTATCGTAA CGACGCGGTCTCTCTCTaggagccatttgctctctcagtttagtgtgcagaacaaattagtacttccCaaaataataccaattaagctaacgttaaaaagttagtatctatgttaatAGAGGGAGACGGACGTCTCAATAActggtatcgtaaAGATCGAGACCCGACGC chr4:96808917-Reference-C;Patient-32 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Variant A atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg CACTAGTGAGAA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAcactagtgagaaAGATCGAGACCCGACGC chr4:96817979-Variant-A;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative C atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AAGTGGCAAGCA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAaagtggcaagcaAGATCGAGACCCGACGC chr4:96817979-Alternative-C;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Variant A atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AGCTCTAATCGA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAagctctaatcgaAGATCGAGACCCGACGC chr4:96817979-Variant-A;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Variant A atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AGTCGCAGAATA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAagtcgcagaataAGATCGAGACCCGACGC chr4:96817979-Variant-A;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative C atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg GCGTATCAAGCG CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAgcgtatcaagcgAGATCGAGACCCGACGC chr4:96817979-Alternative-C;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Variant A atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AGCGTCGGAGAT CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAagcgtcggagatAGATCGAGACCCGACGC chr4:96817979-Variant-A;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative C atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg GGACCGATAGAT CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAggaccgatagatAGATCGAGACCCGACGC chr4:96817979-Alternative-C;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative C atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg GGCTATAGCATA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAggctatagcataAGATCGAGACCCGACGC chr4:96817979-Alternative-C;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Reference G atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg GACGTAATAGGT CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAgacgtaataggtAGATCGAGACCCGACGC chr4:96817979-Reference-G;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative C atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AATGTTCGACCA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtCtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAaatgttcgaccaAGATCGAGACCCGACGC chr4:96817979-Alternative-C;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Reference G atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg CATGCGTGCATC CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAcatgcgtgcatcAGATCGAGACCCGACGC chr4:96817979-Reference-G;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Reference G atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg ATCCGCTAGTAA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAatccgctagtaaAGATCGAGACCCGACGC chr4:96817979-Reference-G;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Variant A atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg CGTTGCTGGAAC CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtAtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAcgttgctggaacAGATCGAGACCCGACGC chr4:96817979-Variant-A;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative T atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg GACTGGAAGGAC CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAgactggaaggacAGATCGAGACCCGACGC chr4:96817979-Alternative-T;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative T atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg CAGTTCCACGTC CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAcagttccacgtcAGATCGAGACCCGACGC chr4:96817979-Alternative-T;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Reference G atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg ATAGGACTCTGA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAataggactctgaAGATCGAGACCCGACGC chr4:96817979-Reference-G;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Reference G atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg ACATCATAACGC CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtGtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAacatcataacgcAGATCGAGACCCGACGC chr4:96817979-Reference-G;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative T atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg ACGTTACGGTCA CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAacgttacggtcaAGATCGAGACCCGACGC chr4:96817979-Alternative-T;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative T atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AACGTCGGAACG CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAaacgtcggaacgAGATCGAGACCCGACGC chr4:96817979-Alternative-T;Patient-92 chr4:96817979-GA Inherited Patient-92 intergenic 0.000382 0.00256 -0.21 0.69 -2.2 PDHA2 56739 Alternative T atgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatg AGCTACTCGCAT CGACGCGGTCTCTCTCTatgaggtttttctaaaaataagatttttcaaataaaatgttttacacagtTtttgaaatagtaaacacagtaatttatttttaacatatctgggagaatgAGAGGGAGACGGACGTCTCAATAAagctactcgcatAGATCGAGACCCGACGC chr4:96817979-Alternative-T;Patient-92 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Reference G gataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca ACACGGTAGCGA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAacacggtagcgaAGATCGAGACCCGACGC chr4:99788788-Reference-G;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Reference G gataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca GCGTCACGGTAA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAgcgtcacggtaaAGATCGAGACCCGACGC chr4:99788788-Reference-G;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Reference G gataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CGAGAGCACAAC CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAcgagagcacaacAGATCGAGACCCGACGC chr4:99788788-Reference-G;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Reference G gataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca ATACTTCGACCT CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAatacttcgacctAGATCGAGACCCGACGC chr4:99788788-Reference-G;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative C gataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca GGATGTTATGCT CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAggatgttatgctAGATCGAGACCCGACGC chr4:99788788-Alternative-C;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative C gataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca ACCTCCGTGTAC CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAacctccgtgtacAGATCGAGACCCGACGC chr4:99788788-Alternative-C;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative T gataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca GCGATCCTTCGA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAgcgatccttcgaAGATCGAGACCCGACGC chr4:99788788-Alternative-T;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Variant A gataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca ATCCTACGCGAG CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAatcctacgcgagAGATCGAGACCCGACGC chr4:99788788-Variant-A;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Reference G gataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca GTGTTGGTGCAC CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctGtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAgtgttggtgcacAGATCGAGACCCGACGC chr4:99788788-Reference-G;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative T gataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca AATCTGCGTAGT CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAaatctgcgtagtAGATCGAGACCCGACGC chr4:99788788-Alternative-T;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative T gataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CATCGCAGGTTA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAcatcgcaggttaAGATCGAGACCCGACGC chr4:99788788-Alternative-T;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative T gataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CGACGAGGCTAA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAcgacgaggctaaAGATCGAGACCCGACGC chr4:99788788-Alternative-T;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Variant A gataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca GATAGATGACCG CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAgatagatgaccgAGATCGAGACCCGACGC chr4:99788788-Variant-A;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Variant A gataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca AGAACGTCAGGT CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAagaacgtcaggtAGATCGAGACCCGACGC chr4:99788788-Variant-A;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative C gataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca AAGACTGCGTGC CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAaagactgcgtgcAGATCGAGACCCGACGC chr4:99788788-Alternative-C;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative C gataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca AGATAATCGCGA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAagataatcgcgaAGATCGAGACCCGACGC chr4:99788788-Alternative-C;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Variant A gataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CATGCTAAGGCG CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAcatgctaaggcgAGATCGAGACCCGACGC chr4:99788788-Variant-A;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative T gataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CGTACTCAACTT CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctTtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAcgtactcaacttAGATCGAGACCCGACGC chr4:99788788-Alternative-T;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Alternative C gataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca AGTGTCGGATGG CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctCtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAAagtgtcggatggAGATCGAGACCCGACGC chr4:99788788-Alternative-C;Patient-90 chr4:99788788-GA DeNovo Patient-90 intergenic NA 0.000513 0.01 2.83 0.17 EIF4E 62997 Variant A gataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatca CTCTCGATGACA CGACGCGGTCTCTCTCTgataataccagggatatatattgcattggagaaatattagacatttctctAtgtaataaagcctacagttagcaatgaaaattgccatcttttagcatcaAGAGGGAGACGGACGTCTCAATAActctcgatgacaAGATCGAGACCCGACGC chr4:99788788-Variant-A;Patient-90 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Variant G ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GGAACTAACGGC CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAggaactaacggcAGATCGAGACCCGACGC chr4:99943911-Variant-G;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Variant G ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccaccca CATAGCACGACT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAcatagcacgactAGATCGAGACCCGACGC chr4:99943911-Variant-G;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative C ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccaccca ACAATTGCTTCG CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAacaattgcttcgAGATCGAGACCCGACGC chr4:99943911-Alternative-C;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative T ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GCGAACGTCAGT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAgcgaacgtcagtAGATCGAGACCCGACGC chr4:99943911-Alternative-T;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Variant G ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccaccca AGAGTCCGACAC CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAagagtccgacacAGATCGAGACCCGACGC chr4:99943911-Variant-G;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative C ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccaccca AAGTTCGCGGAC CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAaagttcgcggacAGATCGAGACCCGACGC chr4:99943911-Alternative-C;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative C ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccaccca CTTACTACTCCT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAActtactactcctAGATCGAGACCCGACGC chr4:99943911-Alternative-C;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative T ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GCCGTATGGAGT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAgccgtatggagtAGATCGAGACCCGACGC chr4:99943911-Alternative-T;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Variant G ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccaccca AGTTCGCGGTCT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAagttcgcggtctAGATCGAGACCCGACGC chr4:99943911-Variant-G;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Variant G ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GAGGTTCTATCA CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtGgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAgaggttctatcaAGATCGAGACCCGACGC chr4:99943911-Variant-G;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative C ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GATCCTGCGACT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAgatcctgcgactAGATCGAGACCCGACGC chr4:99943911-Alternative-C;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative T ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GGTCATGTATCA CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAggtcatgtatcaAGATCGAGACCCGACGC chr4:99943911-Alternative-T;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Reference A ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccaccca ATTACGGCGTAT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAattacggcgtatAGATCGAGACCCGACGC chr4:99943911-Reference-A;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative T ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccaccca CGCCGGTGTAAT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAcgccggtgtaatAGATCGAGACCCGACGC chr4:99943911-Alternative-T;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative T ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccaccca ATCCTAGTACAG CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtTgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAatcctagtacagAGATCGAGACCCGACGC chr4:99943911-Alternative-T;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Reference A ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccaccca GCGCGAATCAGT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAgcgcgaatcagtAGATCGAGACCCGACGC chr4:99943911-Reference-A;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Reference A ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccaccca ACGACACGTAGT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAacgacacgtagtAGATCGAGACCCGACGC chr4:99943911-Reference-A;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Reference A ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccaccca ACTTCCGGCATT CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAacttccggcattAGATCGAGACCCGACGC chr4:99943911-Reference-A;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Alternative C ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccaccca AGGCGAAGGAGA CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtCgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAaggcgaaggagaAGATCGAGACCCGACGC chr4:99943911-Alternative-C;Patient-89 chr4:99943911-AG Inherited Patient-89 intronic METAP1 6.4e-05 0.000296942 0.53 9.62 0.4 METAP1 27122 Reference A ggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccaccca AACGAATCGTGA CGACGCGGTCTCTCTCTggtcataatgggaggggctgcacctgtgggtacccataggcgtgttgtgtAgactggccgccacactcttggctatgcgcttgtcacggaactccacccaAGAGGGAGACGGACGTCTCAATAAaacgaatcgtgaAGATCGAGACCCGACGC chr4:99943911-Reference-A;Patient-89 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Variant G gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt GACTACGTACTA CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAgactacgtactaAGATCGAGACCCGACGC chr5:1046196-Variant-G;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Variant G gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ATCCGACACACG CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAatccgacacacgAGATCGAGACCCGACGC chr5:1046196-Variant-G;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Variant G gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ACTCGTGTTCAT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAactcgtgttcatAGATCGAGACCCGACGC chr5:1046196-Variant-G;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Reference T gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt CACAGCGACCTA CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAcacagcgacctaAGATCGAGACCCGACGC chr5:1046196-Reference-T;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Variant G gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AACACCTAGCGG CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAaacacctagcggAGATCGAGACCCGACGC chr5:1046196-Variant-G;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Variant G gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ATTCGGCCATCG CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaGtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAattcggccatcgAGATCGAGACCCGACGC chr5:1046196-Variant-G;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Reference T gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ATCAACGGCGCT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAatcaacggcgctAGATCGAGACCCGACGC chr5:1046196-Reference-T;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Reference T gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt GTGACGCACCAT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAgtgacgcaccatAGATCGAGACCCGACGC chr5:1046196-Reference-T;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative A gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AGGACGCTATAA CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAaggacgctataaAGATCGAGACCCGACGC chr5:1046196-Alternative-A;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative C gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AGGTGGTATTCT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAaggtggtattctAGATCGAGACCCGACGC chr5:1046196-Alternative-C;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative C gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt CGTCTACACCGT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAcgtctacaccgtAGATCGAGACCCGACGC chr5:1046196-Alternative-C;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative C gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ATTGTGCTCGTT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAattgtgctcgttAGATCGAGACCCGACGC chr5:1046196-Alternative-C;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Reference T gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt CAGGCTTCTCGT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAcaggcttctcgtAGATCGAGACCCGACGC chr5:1046196-Reference-T;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative C gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AACTACGCGGAC CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAaactacgcggacAGATCGAGACCCGACGC chr5:1046196-Alternative-C;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative C gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt CGTTCAAGTGAT CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaCtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAcgttcaagtgatAGATCGAGACCCGACGC chr5:1046196-Alternative-C;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Reference T gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt ACTCGGAATATC CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaTtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAactcggaatatcAGATCGAGACCCGACGC chr5:1046196-Reference-T;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative A gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AAGTATACGTGG CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAaagtatacgtggAGATCGAGACCCGACGC chr5:1046196-Alternative-A;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative A gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt AGACTGAACGCA CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAagactgaacgcaAGATCGAGACCCGACGC chr5:1046196-Alternative-A;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative A gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt CTCTTGGACGTC CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAActcttggacgtcAGATCGAGACCCGACGC chr5:1046196-Alternative-A;Patient-56 chr5:1046196-TG DeNovo Patient-56 intergenic NA 0.000513 0.07 3.8 0 SLC12A7 65975 Alternative A gtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagt GATTCACGATAC CGACGCGGTCTCTCTCTgtgggcgagttagtgtgtgaatgagtgggtgtgtgaatgagtggatgttaAtgtgtgaatgagtgggtgtgtgaacgagtgggttagtgtgtgaatgagtAGAGGGAGACGGACGTCTCAATAAgattcacgatacAGATCGAGACCCGACGC chr5:1046196-Alternative-A;Patient-56 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative T gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GGCACGGTACAT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAggcacggtacatAGATCGAGACCCGACGC chr5:108925456-Alternative-T;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Reference G gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GTCGTTCGACAG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgtcgttcgacagAGATCGAGACCCGACGC chr5:108925456-Reference-G;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Reference G gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa ACGACTACTCGG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAacgactactcggAGATCGAGACCCGACGC chr5:108925456-Reference-G;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Reference G gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GTGACGCCAGTT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgtgacgccagttAGATCGAGACCCGACGC chr5:108925456-Reference-G;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Reference G gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa ACGTAACGGAGA CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAacgtaacggagaAGATCGAGACCCGACGC chr5:108925456-Reference-G;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative C gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AGAGTCATGGCG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAagagtcatggcgAGATCGAGACCCGACGC chr5:108925456-Alternative-C;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative C gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa ACTCGTTGACTT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAactcgttgacttAGATCGAGACCCGACGC chr5:108925456-Alternative-C;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Variant A gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AACGAACGAGAA CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAaacgaacgagaaAGATCGAGACCCGACGC chr5:108925456-Variant-A;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative T gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GTACGAGCAGCA CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgtacgagcagcaAGATCGAGACCCGACGC chr5:108925456-Alternative-T;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Variant A gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AACGTGATAACG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAaacgtgataacgAGATCGAGACCCGACGC chr5:108925456-Variant-A;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Variant A gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GTGTTCCAACGG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgtgttccaacggAGATCGAGACCCGACGC chr5:108925456-Variant-A;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Variant A gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa CTTATTGTGCGT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAActtattgtgcgtAGATCGAGACCCGACGC chr5:108925456-Variant-A;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Reference G gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AGGTTACGCGAG CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatGgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAaggttacgcgagAGATCGAGACCCGACGC chr5:108925456-Reference-G;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative C gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GCGATCAGCGTT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgcgatcagcgttAGATCGAGACCCGACGC chr5:108925456-Alternative-C;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative T gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GTAGTGGTTCTA CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgtagtggttctaAGATCGAGACCCGACGC chr5:108925456-Alternative-T;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative T gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa CGGACTTGCGAT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAcggacttgcgatAGATCGAGACCCGACGC chr5:108925456-Alternative-T;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative T gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AAGCGGACTCGT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatTgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAaagcggactcgtAGATCGAGACCCGACGC chr5:108925456-Alternative-T;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative C gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa AGATTGTCGGTT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAagattgtcggttAGATCGAGACCCGACGC chr5:108925456-Alternative-C;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Alternative C gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GCGAGTACAGAA CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatCgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAgcgagtacagaaAGATCGAGACCCGACGC chr5:108925456-Alternative-C;Patient-77 chr5:108925456-GA DeNovo Patient-77 intergenic NA 0.00032 NA NA NA MAN2A1 99699 Variant A gactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaa GGTGATGAGTAT CGACGCGGTCTCTCTCTgactgtccttagaatgtgcaacaccaagagtgaactgtaatgtgaactatAgattttgggtgataatgatgtgtcaatgtaagttcatcaattgtaacaaAGAGGGAGACGGACGTCTCAATAAggtgatgagtatAGATCGAGACCCGACGC chr5:108925456-Variant-A;Patient-77 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative T cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ACACTAGGCTAT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAacactaggctatAGATCGAGACCCGACGC chr5:109074844-Alternative-T;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative T cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ACTTGACGAACG CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAacttgacgaacgAGATCGAGACCCGACGC chr5:109074844-Alternative-T;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative T cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaa CATTGACCAAGG CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAcattgaccaaggAGATCGAGACCCGACGC chr5:109074844-Alternative-T;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative A cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaa CGTGTTCCGTGT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAcgtgttccgtgtAGATCGAGACCCGACGC chr5:109074844-Alternative-A;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative T cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaa GACCGTGTTGGT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAgaccgtgttggtAGATCGAGACCCGACGC chr5:109074844-Alternative-T;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Reference G cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ATTCACGACAGT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAattcacgacagtAGATCGAGACCCGACGC chr5:109074844-Reference-G;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Reference G cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaa AACTAGGCCTAA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAaactaggcctaaAGATCGAGACCCGACGC chr5:109074844-Reference-G;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative T cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaa AACGCGCGCATA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccTtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAaacgcgcgcataAGATCGAGACCCGACGC chr5:109074844-Alternative-T;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Reference G cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ACCGGCGTATGA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAaccggcgtatgaAGATCGAGACCCGACGC chr5:109074844-Reference-G;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative A cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaa AGCGCTAGCGTT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAagcgctagcgttAGATCGAGACCCGACGC chr5:109074844-Alternative-A;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative A cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ACTGTGTGCACA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAactgtgtgcacaAGATCGAGACCCGACGC chr5:109074844-Alternative-A;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative A cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaa AGCTTATGTACG CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAagcttatgtacgAGATCGAGACCCGACGC chr5:109074844-Alternative-A;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Variant C cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaa CGTCGTATTGAA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAcgtcgtattgaaAGATCGAGACCCGACGC chr5:109074844-Variant-C;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Variant C cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaa AACTCGTACCGC CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAaactcgtaccgcAGATCGAGACCCGACGC chr5:109074844-Variant-C;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Variant C cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaa GGCTATCAAGAA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAggctatcaagaaAGATCGAGACCCGACGC chr5:109074844-Variant-C;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Reference G cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaa ACCAATAGATGG CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAaccaatagatggAGATCGAGACCCGACGC chr5:109074844-Reference-G;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Alternative A cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaa CTGCGTGAACAG CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccAtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAActgcgtgaacagAGATCGAGACCCGACGC chr5:109074844-Alternative-A;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Variant C cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaa GATGCACATGAA CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAgatgcacatgaaAGATCGAGACCCGACGC chr5:109074844-Variant-C;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Variant C cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaa GCGGAGAAGCAT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccCtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAgcggagaagcatAGATCGAGACCCGACGC chr5:109074844-Variant-C;Patient-105 chr5:109074844-GC DeNovo Patient-105 intronic MAN2A1 0.000383 9.48e-05 -0.46 0.12 -3.74 MAN2A1 49687 Reference G cagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaa GCATACGTCCAT CGACGCGGTCTCTCTCTcagcctcccaaagtgctgggattacaggcatcagccactgtgctcagtccGtataatgggaagattttaactgtaatttttttttctcttctctcttaaaAGAGGGAGACGGACGTCTCAATAAgcatacgtccatAGATCGAGACCCGACGC chr5:109074844-Reference-G;Patient-105 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Variant C atcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc AGATGAATGCCG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAagatgaatgccgAGATCGAGACCCGACGC chr5:110474669-Variant-C;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Variant C atcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc ACTTGCAAGAAG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAacttgcaagaagAGATCGAGACCCGACGC chr5:110474669-Variant-C;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative G atcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GAGCAGTTGATA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgagcagttgataAGATCGAGACCCGACGC chr5:110474669-Alternative-G;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative G atcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc ACCGGAGACAAG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAaccggagacaagAGATCGAGACCCGACGC chr5:110474669-Alternative-G;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Variant C atcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc CTAACAACGGAC CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAActaacaacggacAGATCGAGACCCGACGC chr5:110474669-Variant-C;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative G atcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc CAGGTGGACAGT CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAcaggtggacagtAGATCGAGACCCGACGC chr5:110474669-Alternative-G;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative G atcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc AGCGCGTCGTAA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAagcgcgtcgtaaAGATCGAGACCCGACGC chr5:110474669-Alternative-G;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative G atcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GACGCATATCGC CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaGtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgacgcatatcgcAGATCGAGACCCGACGC chr5:110474669-Alternative-G;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Reference T atcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GATCGGAGGTCA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgatcggaggtcaAGATCGAGACCCGACGC chr5:110474669-Reference-T;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Reference T atcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GTAGATAGTCGA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgtagatagtcgaAGATCGAGACCCGACGC chr5:110474669-Reference-T;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Reference T atcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc AACCGAACCAGG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAaaccgaaccaggAGATCGAGACCCGACGC chr5:110474669-Reference-T;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative A atcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc CGATATCCGTGG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAcgatatccgtggAGATCGAGACCCGACGC chr5:110474669-Alternative-A;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Reference T atcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc CAGGTAGCGTTC CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAcaggtagcgttcAGATCGAGACCCGACGC chr5:110474669-Reference-T;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative A atcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc ATACGGACGACG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAatacggacgacgAGATCGAGACCCGACGC chr5:110474669-Alternative-A;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative A atcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GACGAACTTCGA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgacgaacttcgaAGATCGAGACCCGACGC chr5:110474669-Alternative-A;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Reference T atcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GGATAAGATTCG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaTtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAggataagattcgAGATCGAGACCCGACGC chr5:110474669-Reference-T;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative A atcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GCGTGGACGTAA CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAgcgtggacgtaaAGATCGAGACCCGACGC chr5:110474669-Alternative-A;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Alternative A atcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc CACAACCACAGG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaAtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAcacaaccacaggAGATCGAGACCCGACGC chr5:110474669-Alternative-A;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Variant C atcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc GGTACGTAAGCG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAggtacgtaagcgAGATCGAGACCCGACGC chr5:110474669-Variant-C;Patient-91 chr5:110474669-TC Inherited Patient-91 intergenic 0.000386 0.001538462 0.01 2.79 0 CAMK4 85114 Variant C atcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcacc AAGATCACGGCG CGACGCGGTCTCTCTCTatcacactctggggactgtggtggggtcgggggaggggggagggatagcaCtgggagatatacctaatgctagatgacacattagtgggtgcagcgcaccAGAGGGAGACGGACGTCTCAATAAaagatcacggcgAGATCGAGACCCGACGC chr5:110474669-Variant-C;Patient-91 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Reference T attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CGACACGTACAC CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcgacacgtacacAGATCGAGACCCGACGC chr5:112026751-Reference-T;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Reference T attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca GTTCAACGTAGT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAgttcaacgtagtAGATCGAGACCCGACGC chr5:112026751-Reference-T;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Reference T attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca ATCGTCCGACCT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAatcgtccgacctAGATCGAGACCCGACGC chr5:112026751-Reference-T;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative A attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca GCGAAGGTCAAG CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAgcgaaggtcaagAGATCGAGACCCGACGC chr5:112026751-Alternative-A;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Reference T attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca AAGATACGGCGC CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAaagatacggcgcAGATCGAGACCCGACGC chr5:112026751-Reference-T;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative A attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CGCAGATAGCTA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcgcagatagctaAGATCGAGACCCGACGC chr5:112026751-Alternative-A;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative A attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CAGCTTCGGCAA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcagcttcggcaaAGATCGAGACCCGACGC chr5:112026751-Alternative-A;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative G attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CAAGATGGCTAA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcaagatggctaaAGATCGAGACCCGACGC chr5:112026751-Alternative-G;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative G attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca AGGAGTCAAGTT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAaggagtcaagttAGATCGAGACCCGACGC chr5:112026751-Alternative-G;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Variant C attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca GGAACTATCAAG CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAggaactatcaagAGATCGAGACCCGACGC chr5:112026751-Variant-C;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative A attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CGATGCGACGAA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcgatgcgacgaaAGATCGAGACCCGACGC chr5:112026751-Alternative-A;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Reference T attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CGCGTTCGTGAT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaTtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcgcgttcgtgatAGATCGAGACCCGACGC chr5:112026751-Reference-T;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Variant C attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca ATCGTGCACGCA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAatcgtgcacgcaAGATCGAGACCCGACGC chr5:112026751-Variant-C;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative A attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca ATAGCGTGAACA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaAtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAatagcgtgaacaAGATCGAGACCCGACGC chr5:112026751-Alternative-A;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Variant C attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CAGAGCGAAGTC CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcagagcgaagtcAGATCGAGACCCGACGC chr5:112026751-Variant-C;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative G attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CTCGTACGTCGT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAActcgtacgtcgtAGATCGAGACCCGACGC chr5:112026751-Alternative-G;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Variant C attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CTGCGATACCTT CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAActgcgataccttAGATCGAGACCCGACGC chr5:112026751-Variant-C;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative G attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca GCACGCGATCAA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAgcacgcgatcaaAGATCGAGACCCGACGC chr5:112026751-Alternative-G;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Variant C attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca CACTATACGGAG CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaCtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAcactatacggagAGATCGAGACCCGACGC chr5:112026751-Variant-C;Patient-65 chr5:112026751-TC Inherited Patient-65 intergenic 3.2e-05 0.000513 0.22 6.1 2.6 APC 16450 Alternative G attgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagca ATCATGGAACGA CGACGCGGTCTCTCTCTattgaggccagaaagatactttttcctcaacagtgaatgaattggctacaGtgtctggaagaccctcaagtgtcaccaggagctgtgtttcttgagagcaAGAGGGAGACGGACGTCTCAATAAatcatggaacgaAGATCGAGACCCGACGC chr5:112026751-Alternative-G;Patient-65 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Reference G aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgca AGTTCATGCCTA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAagttcatgcctaAGATCGAGACCCGACGC chr5:112231540-Reference-G;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Reference G aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GTGACTCCTATT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAgtgactcctattAGATCGAGACCCGACGC chr5:112231540-Reference-G;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Reference G aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgca ACCGCACTCGAT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAaccgcactcgatAGATCGAGACCCGACGC chr5:112231540-Reference-G;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Reference G aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgca ACGCAAGTGACT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAacgcaagtgactAGATCGAGACCCGACGC chr5:112231540-Reference-G;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Variant A aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgca CACGGCTTGTTC CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAcacggcttgttcAGATCGAGACCCGACGC chr5:112231540-Variant-A;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative T aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgca CTAGCCGATACG CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAActagccgatacgAGATCGAGACCCGACGC chr5:112231540-Alternative-T;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative T aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgca AAGGCTGATGAA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAaaggctgatgaaAGATCGAGACCCGACGC chr5:112231540-Alternative-T;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Variant A aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgca CGGACGAAGTCT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAcggacgaagtctAGATCGAGACCCGACGC chr5:112231540-Variant-A;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative T aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgca CTTATATCGCCT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAActtatatcgcctAGATCGAGACCCGACGC chr5:112231540-Alternative-T;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Variant A aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgca AAGGTTAACGCA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAaaggttaacgcaAGATCGAGACCCGACGC chr5:112231540-Variant-A;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Reference G aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GCCGAACTTCCA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtGccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAgccgaacttccaAGATCGAGACCCGACGC chr5:112231540-Reference-G;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative T aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GATTGTGCAACT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAgattgtgcaactAGATCGAGACCCGACGC chr5:112231540-Alternative-T;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative T aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgca ACACCAAGCGTC CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtTccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAacaccaagcgtcAGATCGAGACCCGACGC chr5:112231540-Alternative-T;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Variant A aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgca CACAGCATACCA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAcacagcataccaAGATCGAGACCCGACGC chr5:112231540-Variant-A;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Variant A aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgca ATTGTGAGGAGT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtAccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAattgtgaggagtAGATCGAGACCCGACGC chr5:112231540-Variant-A;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative C aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GGTAGCGTAACG CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAggtagcgtaacgAGATCGAGACCCGACGC chr5:112231540-Alternative-C;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative C aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgca ACTACCGAACGC CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAactaccgaacgcAGATCGAGACCCGACGC chr5:112231540-Alternative-C;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative C aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GGATAGTGACAT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAggatagtgacatAGATCGAGACCCGACGC chr5:112231540-Alternative-C;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative C aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GTCGCTTACCGT CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAgtcgcttaccgtAGATCGAGACCCGACGC chr5:112231540-Alternative-C;Patient-21 chr5:112231540-GA DeNovo Patient-21 intronic REEP5 NA 4.95e-05 0.19 5.66 1.17 REEP5 26490 Alternative C aaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgca GGCTTAATCGAA CGACGCGGTCTCTCTCTaaagtcacccacacagatctggctcttttcaatcaagctgccctcaaagtCccagctgatgatactcccaaggagactcacaagcccactgctgcctgcaAGAGGGAGACGGACGTCTCAATAAggcttaatcgaaAGATCGAGACCCGACGC chr5:112231540-Alternative-C;Patient-21 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative G cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GCGATCGTACGA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgcgatcgtacgaAGATCGAGACCCGACGC chr5:115197421-Alternative-G;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative G cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GTTAACGTGGTT CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgttaacgtggttAGATCGAGACCCGACGC chr5:115197421-Alternative-G;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative G cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CGCAAGTTCTAA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAcgcaagttctaaAGATCGAGACCCGACGC chr5:115197421-Alternative-G;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative G cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CGAACGCATAGT CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAcgaacgcatagtAGATCGAGACCCGACGC chr5:115197421-Alternative-G;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Variant C cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CGTTAGGTTACA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAcgttaggttacaAGATCGAGACCCGACGC chr5:115197421-Variant-C;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative A cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GACAGTACACAC CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgacagtacacacAGATCGAGACCCGACGC chr5:115197421-Alternative-A;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative G cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GTCGCAATGTGG CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattGtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgtcgcaatgtggAGATCGAGACCCGACGC chr5:115197421-Alternative-G;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Variant C cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CGCTGCGGTTAT CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAcgctgcggttatAGATCGAGACCCGACGC chr5:115197421-Variant-C;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative A cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc AGTCGCGTGTGA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAagtcgcgtgtgaAGATCGAGACCCGACGC chr5:115197421-Alternative-A;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative A cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GTGTCGGTTATA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgtgtcggttataAGATCGAGACCCGACGC chr5:115197421-Alternative-A;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Reference T cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc AGAAGATGTGCG CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAagaagatgtgcgAGATCGAGACCCGACGC chr5:115197421-Reference-T;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative A cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GCGGCTACATCA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgcggctacatcaAGATCGAGACCCGACGC chr5:115197421-Alternative-A;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Alternative A cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GCCGATAATCAA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattAtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgccgataatcaaAGATCGAGACCCGACGC chr5:115197421-Alternative-A;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Variant C cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc AGATCCTACAGG CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAagatcctacaggAGATCGAGACCCGACGC chr5:115197421-Variant-C;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Reference T cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CGAACTGCGCAA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAcgaactgcgcaaAGATCGAGACCCGACGC chr5:115197421-Reference-T;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Reference T cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc AATCAATTGGCG CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAaatcaattggcgAGATCGAGACCCGACGC chr5:115197421-Reference-T;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Reference T cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CTGCGGCTGTAA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAActgcggctgtaaAGATCGAGACCCGACGC chr5:115197421-Reference-T;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Reference T cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc GCCTTGTCCGAA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattTtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAgccttgtccgaaAGATCGAGACCCGACGC chr5:115197421-Reference-T;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Variant C cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc CTTGTACGTACG CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAActtgtacgtacgAGATCGAGACCCGACGC chr5:115197421-Variant-C;Patient-25 chr5:115197421-TC Inherited Patient-25 intronic AP3S1 9.6e-05 0.000148 0.2 5.85 0.15 AP3S1 19801 Variant C cctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttc ACCTTACGATGA CGACGCGGTCTCTCTCTcctcccaagtagctgggactacagacatgcactaccatgcctgggtaattCtttgtagagacagggttttgccatgttgaccaggctggtcttaaacttcAGAGGGAGACGGACGTCTCAATAAaccttacgatgaAGATCGAGACCCGACGC chr5:115197421-Variant-C;Patient-25 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative G aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaa GATGACATATGG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgatgacatatggAGATCGAGACCCGACGC chr5:118378109-Alternative-G;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative G aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaa GCATTCTCCGCA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgcattctccgcaAGATCGAGACCCGACGC chr5:118378109-Alternative-G;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Variant A aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaa ACGTACCGGCAT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAacgtaccggcatAGATCGAGACCCGACGC chr5:118378109-Variant-A;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative G aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaa GTACTCAGGCCT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgtactcaggcctAGATCGAGACCCGACGC chr5:118378109-Alternative-G;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative G aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaa ACATCGCTTCGC CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAacatcgcttcgcAGATCGAGACCCGACGC chr5:118378109-Alternative-G;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative C aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaa CGAGTATATGAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAcgagtatatgagAGATCGAGACCCGACGC chr5:118378109-Alternative-C;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Variant A aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaa AGACTAACTGCT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAagactaactgctAGATCGAGACCCGACGC chr5:118378109-Variant-A;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative G aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaa ACTCGTCCTTCT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataGatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAactcgtccttctAGATCGAGACCCGACGC chr5:118378109-Alternative-G;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative C aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaa CGACACACGGTT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAcgacacacggttAGATCGAGACCCGACGC chr5:118378109-Alternative-C;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Reference T aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaa ACAACAATACGG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAacaacaatacggAGATCGAGACCCGACGC chr5:118378109-Reference-T;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Variant A aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaa CTTACTCGGCTA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAActtactcggctaAGATCGAGACCCGACGC chr5:118378109-Variant-A;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Reference T aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaa GTCGAGCCGATT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgtcgagccgattAGATCGAGACCCGACGC chr5:118378109-Reference-T;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Reference T aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaa AAGCGTTAACGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAaagcgttaacgtAGATCGAGACCCGACGC chr5:118378109-Reference-T;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Reference T aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaa AATAGCCGTCGG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAaatagccgtcggAGATCGAGACCCGACGC chr5:118378109-Reference-T;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Reference T aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaa GTATAGAACGCG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataTatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgtatagaacgcgAGATCGAGACCCGACGC chr5:118378109-Reference-T;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Variant A aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaa ATAGGTACGAAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAataggtacgaagAGATCGAGACCCGACGC chr5:118378109-Variant-A;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Variant A aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaa GTTCGACGCTTA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataAatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAgttcgacgcttaAGATCGAGACCCGACGC chr5:118378109-Variant-A;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative C aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaa CAGTAAGGACAG CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAcagtaaggacagAGATCGAGACCCGACGC chr5:118378109-Alternative-C;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative C aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaa AACGATGTCTGT CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAaacgatgtctgtAGATCGAGACCCGACGC chr5:118378109-Alternative-C;Patient-37 chr5:118378109-TA DeNovo Patient-37 intergenic 7.2e-05 0.000513 0.03 3.1 0.38 DMXL1 28974 Alternative C aaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaa CGATCTCATCTA CGACGCGGTCTCTCTCTaaaaaaaaaaaaaaaatatatatatatatatatatatatatatatatataCatatatatatatatactttcagtattgttactactgatggggattaaaaAGAGGGAGACGGACGTCTCAATAAcgatctcatctaAGATCGAGACCCGACGC chr5:118378109-Alternative-C;Patient-37 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Reference A atggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga ACACGCGAACAC CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAacacgcgaacacAGATCGAGACCCGACGC chr5:118885288-Reference-A;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Reference A atggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GGATGGAATACG CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAggatggaatacgAGATCGAGACCCGACGC chr5:118885288-Reference-A;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Reference A atggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GTGTTCATAGCA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgtgttcatagcaAGATCGAGACCCGACGC chr5:118885288-Reference-A;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative C atggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga AATGGTACGTTC CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAaatggtacgttcAGATCGAGACCCGACGC chr5:118885288-Alternative-C;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Variant T atggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GGTACATCGTGA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAggtacatcgtgaAGATCGAGACCCGACGC chr5:118885288-Variant-T;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative C atggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga AGTCTCGCTACC CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAagtctcgctaccAGATCGAGACCCGACGC chr5:118885288-Alternative-C;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Reference A atggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga CTGAACGCCAAT CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAActgaacgccaatAGATCGAGACCCGACGC chr5:118885288-Reference-A;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative G atggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga CTAGACTAGGTT CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAActagactaggttAGATCGAGACCCGACGC chr5:118885288-Alternative-G;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Variant T atggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GCGCGGTACTAA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgcgcggtactaaAGATCGAGACCCGACGC chr5:118885288-Variant-T;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative C atggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga AACTCACACCGT CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAaactcacaccgtAGATCGAGACCCGACGC chr5:118885288-Alternative-C;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Reference A atggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GATAGCATCTGG CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagAtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgatagcatctggAGATCGAGACCCGACGC chr5:118885288-Reference-A;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Variant T atggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GTCGTACTACTT CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgtcgtactacttAGATCGAGACCCGACGC chr5:118885288-Variant-T;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative C atggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga ACCTTCATACCA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAaccttcataccaAGATCGAGACCCGACGC chr5:118885288-Alternative-C;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative C atggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GTGATAAGCCGC CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagCtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgtgataagccgcAGATCGAGACCCGACGC chr5:118885288-Alternative-C;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative G atggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga CGCCACTATCGT CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAcgccactatcgtAGATCGAGACCCGACGC chr5:118885288-Alternative-G;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative G atggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GCGCCTACCATA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgcgcctaccataAGATCGAGACCCGACGC chr5:118885288-Alternative-G;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative G atggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga AGACCGAGATGA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAagaccgagatgaAGATCGAGACCCGACGC chr5:118885288-Alternative-G;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Variant T atggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga GATAGCTACAAC CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAgatagctacaacAGATCGAGACCCGACGC chr5:118885288-Variant-T;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Alternative G atggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga AGATGCAGCAAG CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagGtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAagatgcagcaagAGATCGAGACCCGACGC chr5:118885288-Alternative-G;Patient-15 chr5:118885288-AT DeNovo Patient-15 intergenic 3.2e-05 0.001 0 2.61 0.13 HSD17B4 97149 Variant T atggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcgga CATCGTTGGCGA CGACGCGGTCTCTCTCTatggagactactccctttgcaacccctccccgcctttttctgcgtggcagTtggaaaattgaaaatatctgtgattggttgctttctgcaatcaatcggaAGAGGGAGACGGACGTCTCAATAAcatcgttggcgaAGATCGAGACCCGACGC chr5:118885288-Variant-T;Patient-15 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Variant C agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc CAGGCTTCGCAT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAcaggcttcgcatAGATCGAGACCCGACGC chr5:121490375-Variant-C;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative A agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GGTCAGGTATGT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAggtcaggtatgtAGATCGAGACCCGACGC chr5:121490375-Alternative-A;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative A agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GAATGCGTGCAG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAgaatgcgtgcagAGATCGAGACCCGACGC chr5:121490375-Alternative-A;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Variant C agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc ACTTCGTCGTCG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAacttcgtcgtcgAGATCGAGACCCGACGC chr5:121490375-Variant-C;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative A agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc CGTAAGCTTCGG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAcgtaagcttcggAGATCGAGACCCGACGC chr5:121490375-Alternative-A;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative A agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc ACGAGCACATGG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAacgagcacatggAGATCGAGACCCGACGC chr5:121490375-Alternative-A;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Reference T agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc AATCATGGCTGT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAaatcatggctgtAGATCGAGACCCGACGC chr5:121490375-Reference-T;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative A agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc ACGAAGCTGACG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcAgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAacgaagctgacgAGATCGAGACCCGACGC chr5:121490375-Alternative-A;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative G agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GGTACGTATGCA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAggtacgtatgcaAGATCGAGACCCGACGC chr5:121490375-Alternative-G;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative G agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc CATCTAAGCGTT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAcatctaagcgttAGATCGAGACCCGACGC chr5:121490375-Alternative-G;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Variant C agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GGTATCGAGTAA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAggtatcgagtaaAGATCGAGACCCGACGC chr5:121490375-Variant-C;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Variant C agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc AACGCTGGAATA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAaacgctggaataAGATCGAGACCCGACGC chr5:121490375-Variant-C;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative G agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GGTGACGACAAC CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAggtgacgacaacAGATCGAGACCCGACGC chr5:121490375-Alternative-G;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative G agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GATGGAGGTCAA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAgatggaggtcaaAGATCGAGACCCGACGC chr5:121490375-Alternative-G;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Reference T agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc CAAGCGTAGAGT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAcaagcgtagagtAGATCGAGACCCGACGC chr5:121490375-Reference-T;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Alternative G agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GTCGAAGTTCTA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcGgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAgtcgaagttctaAGATCGAGACCCGACGC chr5:121490375-Alternative-G;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Variant C agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc ATTGCTCTTCGA CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcCgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAattgctcttcgaAGATCGAGACCCGACGC chr5:121490375-Variant-C;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Reference T agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc CATCGATGACCG CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAcatcgatgaccgAGATCGAGACCCGACGC chr5:121490375-Reference-T;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Reference T agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc GGTGAGGATCGT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAggtgaggatcgtAGATCGAGACCCGACGC chr5:121490375-Reference-T;Patient-87 chr5:121490375-TC Inherited Patient-87 intergenic NA 0.000513 1.58 16.17 -0.54 LOX 76319 Reference T agaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgc AGGAGGTAGACT CGACGCGGTCTCTCTCTagaagattccaagacaatgattcgaaagctgaagagtcactcacagctgcTgggcaagttttccgatgaacattgaagaaaaaacagctagtttctttgcAGAGGGAGACGGACGTCTCAATAAaggaggtagactAGATCGAGACCCGACGC chr5:121490375-Reference-T;Patient-87 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative C gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac ACGATCGTTGAT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAacgatcgttgatAGATCGAGACCCGACGC chr5:122812809-Alternative-C;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Reference G gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CAGTCGCGACTT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcagtcgcgacttAGATCGAGACCCGACGC chr5:122812809-Reference-G;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative C gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac AATCGCGTTAGG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAaatcgcgttaggAGATCGAGACCCGACGC chr5:122812809-Alternative-C;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Reference G gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CAAGTTAGATCG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcaagttagatcgAGATCGAGACCCGACGC chr5:122812809-Reference-G;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Reference G gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac GAATGTACCTGG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAgaatgtacctggAGATCGAGACCCGACGC chr5:122812809-Reference-G;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative T gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac ATTCACGCCAAG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAattcacgccaagAGATCGAGACCCGACGC chr5:122812809-Alternative-T;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative T gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac ATCTGCGCGCTA CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAatctgcgcgctaAGATCGAGACCCGACGC chr5:122812809-Alternative-T;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Reference G gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac ACCTCAACTATC CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAacctcaactatcAGATCGAGACCCGACGC chr5:122812809-Reference-G;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative T gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CGATTCTGAACC CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcgattctgaaccAGATCGAGACCCGACGC chr5:122812809-Alternative-T;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Reference G gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac AACAAGCGGTTA CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagGaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAaacaagcggttaAGATCGAGACCCGACGC chr5:122812809-Reference-G;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Variant A gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CACGTAGTGTTA CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcacgtagtgttaAGATCGAGACCCGACGC chr5:122812809-Variant-A;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative T gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CGACGTTGCCAT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcgacgttgccatAGATCGAGACCCGACGC chr5:122812809-Alternative-T;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Variant A gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac AGTAGTAGGAGA CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAagtagtaggagaAGATCGAGACCCGACGC chr5:122812809-Variant-A;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative T gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CGATACTGCGAG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagTaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcgatactgcgagAGATCGAGACCCGACGC chr5:122812809-Alternative-T;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Variant A gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac CATGTGAAGACA CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAcatgtgaagacaAGATCGAGACCCGACGC chr5:122812809-Variant-A;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative C gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac GTAAGGTTCAAG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAgtaaggttcaagAGATCGAGACCCGACGC chr5:122812809-Alternative-C;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Variant A gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac GGCCGGCTTATT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAggccggcttattAGATCGAGACCCGACGC chr5:122812809-Variant-A;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative C gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac AGTAACGGTGAT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAagtaacggtgatAGATCGAGACCCGACGC chr5:122812809-Alternative-C;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Variant A gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac GCATTCGGAAGG CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagAaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAgcattcggaaggAGATCGAGACCCGACGC chr5:122812809-Variant-A;Patient-89 chr5:122812809-GA Inherited Patient-89 intergenic 3.2e-05 0.000512821 0.09 4.14 1.04 CEP120 53522 Alternative C gaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagac ATCATGCTCGTT CGACGCGGTCTCTCTCTgaacaaagtctcgggtgctttggggaagattataagatcatacacaaaagCaaaagtccaatgtgacaaaatatttgcatgactaggaggcatctcagacAGAGGGAGACGGACGTCTCAATAAatcatgctcgttAGATCGAGACCCGACGC chr5:122812809-Alternative-C;Patient-89 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Reference T aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac ACCAACCAACAC CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAaccaaccaacacAGATCGAGACCCGACGC chr5:123984925-Reference-T;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Variant C aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AGGTGTTCTCGG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAaggtgttctcggAGATCGAGACCCGACGC chr5:123984925-Variant-C;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Variant C aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AGTACGTACGAA CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAagtacgtacgaaAGATCGAGACCCGACGC chr5:123984925-Variant-C;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative A aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AAGATCGCGGAG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAaagatcgcggagAGATCGAGACCCGACGC chr5:123984925-Alternative-A;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative A aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GTACGTGACGAG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgtacgtgacgagAGATCGAGACCCGACGC chr5:123984925-Alternative-A;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative A aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AGCATTGTGACG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAagcattgtgacgAGATCGAGACCCGACGC chr5:123984925-Alternative-A;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative A aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac ATAGGCTGTCAT CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAataggctgtcatAGATCGAGACCCGACGC chr5:123984925-Alternative-A;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Reference T aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GTGGCGTTGTGA CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgtggcgttgtgaAGATCGAGACCCGACGC chr5:123984925-Reference-T;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Variant C aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AGCAAGCAAGCG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAagcaagcaagcgAGATCGAGACCCGACGC chr5:123984925-Variant-C;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Variant C aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac AGCTATCGTCAT CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAagctatcgtcatAGATCGAGACCCGACGC chr5:123984925-Variant-C;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Reference T aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GCCAAGATCCAT CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgccaagatccatAGATCGAGACCCGACGC chr5:123984925-Reference-T;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Reference T aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac CATTCGCCATCG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAcattcgccatcgAGATCGAGACCCGACGC chr5:123984925-Reference-T;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative A aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac CGTTGTTGGACG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagAagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAcgttgttggacgAGATCGAGACCCGACGC chr5:123984925-Alternative-A;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Variant C aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GAATTGGCGCAG CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagCagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgaattggcgcagAGATCGAGACCCGACGC chr5:123984925-Variant-C;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Reference T aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GCATATAGAGCA CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagTagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgcatatagagcaAGATCGAGACCCGACGC chr5:123984925-Reference-T;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative G aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac GTCGCGTACGAA CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAgtcgcgtacgaaAGATCGAGACCCGACGC chr5:123984925-Alternative-G;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative G aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac ATAGCGCTAGAA CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAatagcgctagaaAGATCGAGACCCGACGC chr5:123984925-Alternative-G;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative G aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac ACGACATCGGAC CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAacgacatcggacAGATCGAGACCCGACGC chr5:123984925-Alternative-G;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative G aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac ACTGCTTCTCTT CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAAactgcttctcttAGATCGAGACCCGACGC chr5:123984925-Alternative-G;Patient-87 chr5:123984925-TC DeNovo Patient-87 intronic ZNF608 NA 0.000148 0.09 4.05 -6.77 ZNF608 95879 Alternative G aggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacac CTGAACGCAACC CGACGCGGTCTCTCTCTaggtgaaatcacaaagtacacaatgcagtaaagaggagtcaacactccagGagcttcagggctgggcccagtcaaggaaaagactgacaatttccaacacAGAGGGAGACGGACGTCTCAATAActgaacgcaaccAGATCGAGACCCGACGC chr5:123984925-Alternative-G;Patient-87 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative G tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatat AGGCTATTCCGG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAaggctattccggAGATCGAGACCCGACGC chr5:125764685-Alternative-G;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative G tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatat GATAGCATTGTC CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAgatagcattgtcAGATCGAGACCCGACGC chr5:125764685-Alternative-G;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative G tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatat CAGGATAGTACC CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAcaggatagtaccAGATCGAGACCCGACGC chr5:125764685-Alternative-G;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative G tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatat ACGCGTAACATA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAacgcgtaacataAGATCGAGACCCGACGC chr5:125764685-Alternative-G;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative G tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatat GGTGGATGTATA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataGccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAggtggatgtataAGATCGAGACCCGACGC chr5:125764685-Alternative-G;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Reference C tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatat GGCTTGCGTGTT CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAggcttgcgtgttAGATCGAGACCCGACGC chr5:125764685-Reference-C;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Variant T tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatat CGTTACGGTCGA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAcgttacggtcgaAGATCGAGACCCGACGC chr5:125764685-Variant-T;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Variant T tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatat GGTCAATGTCTA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAggtcaatgtctaAGATCGAGACCCGACGC chr5:125764685-Variant-T;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Reference C tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatat AAGGCTCGTAGG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAaaggctcgtaggAGATCGAGACCCGACGC chr5:125764685-Reference-C;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Reference C tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatat CTTATGTGCATC CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAActtatgtgcatcAGATCGAGACCCGACGC chr5:125764685-Reference-C;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative A tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatat AGGTAATCGTGA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAaggtaatcgtgaAGATCGAGACCCGACGC chr5:125764685-Alternative-A;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Reference C tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatat AGACGGAGTCGT CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAagacggagtcgtAGATCGAGACCCGACGC chr5:125764685-Reference-C;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative A tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatat ATTCGCATACGA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAattcgcatacgaAGATCGAGACCCGACGC chr5:125764685-Alternative-A;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Variant T tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatat GCGAATTGAACG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAgcgaattgaacgAGATCGAGACCCGACGC chr5:125764685-Variant-T;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Reference C tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatat CGTCCAACGCAA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataCccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAcgtccaacgcaaAGATCGAGACCCGACGC chr5:125764685-Reference-C;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Variant T tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatat AGGAGTAACCGA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAaggagtaaccgaAGATCGAGACCCGACGC chr5:125764685-Variant-T;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative A tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatat GTATCCGAACTA CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAgtatccgaactaAGATCGAGACCCGACGC chr5:125764685-Alternative-A;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Variant T tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatat ACACATATGGCG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataTccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAacacatatggcgAGATCGAGACCCGACGC chr5:125764685-Variant-T;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative A tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatat GATACAGTATGG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAgatacagtatggAGATCGAGACCCGACGC chr5:125764685-Alternative-A;Patient-19 chr5:125764685-CT DeNovo Patient-19 intronic GRAMD2B NA 4.95e-05 -0.21 0.66 -0.96 GRAMD2B 68896 Alternative A tgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatat AAGCAATCCGCG CGACGCGGTCTCTCTCTtgtaaattagtttgaccatcgtggaagacagtgtggcaattcctcaaataAccaaagacagacataccattcaactcagcaatccctttactgggtatatAGAGGGAGACGGACGTCTCAATAAaagcaatccgcgAGATCGAGACCCGACGC chr5:125764685-Alternative-A;Patient-19 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative A cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt ACGATGTCTAAC CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAacgatgtctaacAGATCGAGACCCGACGC chr5:126555407-Alternative-A;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Reference T cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt CTCGGTATTCAT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAActcggtattcatAGATCGAGACCCGACGC chr5:126555407-Reference-T;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative A cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt ATCAACGTGCAT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAatcaacgtgcatAGATCGAGACCCGACGC chr5:126555407-Alternative-A;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative C cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GACTAAGGTCAA CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgactaaggtcaaAGATCGAGACCCGACGC chr5:126555407-Alternative-C;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative C cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt AGAACGTCCATT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAagaacgtccattAGATCGAGACCCGACGC chr5:126555407-Alternative-C;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative C cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GTCGCATTCTAT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgtcgcattctatAGATCGAGACCCGACGC chr5:126555407-Alternative-C;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative A cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt ATAAGGCACGGC CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAataaggcacggcAGATCGAGACCCGACGC chr5:126555407-Alternative-A;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative A cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GACGAGTTCCGT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgacgagttccgtAGATCGAGACCCGACGC chr5:126555407-Alternative-A;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative C cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt CGATCCGAGTTA CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAcgatccgagttaAGATCGAGACCCGACGC chr5:126555407-Alternative-C;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative A cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GATCGGTTCCGA CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaAtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgatcggttccgaAGATCGAGACCCGACGC chr5:126555407-Alternative-A;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Alternative C cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt AGCCAGGTAGTT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaCtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAagccaggtagttAGATCGAGACCCGACGC chr5:126555407-Alternative-C;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Variant G cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GGAATTGGTGAT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAggaattggtgatAGATCGAGACCCGACGC chr5:126555407-Variant-G;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Variant G cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt ACTCCGAAGATT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAactccgaagattAGATCGAGACCCGACGC chr5:126555407-Variant-G;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Variant G cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt AACTATGTGCGT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAaactatgtgcgtAGATCGAGACCCGACGC chr5:126555407-Variant-G;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Variant G cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GATCATTCCGGC CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgatcattccggcAGATCGAGACCCGACGC chr5:126555407-Variant-G;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Variant G cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GCCTTAAGGCAA CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaGtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgccttaaggcaaAGATCGAGACCCGACGC chr5:126555407-Variant-G;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Reference T cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GTCTAGCACAAT CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgtctagcacaatAGATCGAGACCCGACGC chr5:126555407-Reference-T;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Reference T cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt AGCTCACGTAAC CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAagctcacgtaacAGATCGAGACCCGACGC chr5:126555407-Reference-T;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Reference T cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt AATAATGCGTCG CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAaataatgcgtcgAGATCGAGACCCGACGC chr5:126555407-Reference-T;Patient-56 chr5:126555407-TG DeNovo Patient-56 intergenic 6.4e-05 0.000160205 0.15 5.14 1.7 MEGF10 71048 Reference T cacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaatt GTTGTGCCGTGA CGACGCGGTCTCTCTCTcacctagcagagtacctggcacacagtaagtgctgaaaaattaataagcaTtattattgttgttgttgctattgtattttacttgttgtttgggtgaattAGAGGGAGACGGACGTCTCAATAAgttgtgccgtgaAGATCGAGACCCGACGC chr5:126555407-Reference-T;Patient-56 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Reference C ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CGTGCGTTCACA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcgtgcgttcacaAGATCGAGACCCGACGC chr5:127423132-Reference-C;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Reference C ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AATCTGGCACTA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAaatctggcactaAGATCGAGACCCGACGC chr5:127423132-Reference-C;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative A ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AGCTATGAGGCG CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAagctatgaggcgAGATCGAGACCCGACGC chr5:127423132-Alternative-A;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative A ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt GATCACGTAGCG CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAgatcacgtagcgAGATCGAGACCCGACGC chr5:127423132-Alternative-A;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Variant T ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AGTCAACGAACC CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAagtcaacgaaccAGATCGAGACCCGACGC chr5:127423132-Variant-T;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative A ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CTTATGACGCGG CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAActtatgacgcggAGATCGAGACCCGACGC chr5:127423132-Alternative-A;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Variant T ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CAGCTATTCCGG CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcagctattccggAGATCGAGACCCGACGC chr5:127423132-Variant-T;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative A ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CGCCTAACTAAT CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcgcctaactaatAGATCGAGACCCGACGC chr5:127423132-Alternative-A;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Variant T ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CGCCAATCGCTA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcgccaatcgctaAGATCGAGACCCGACGC chr5:127423132-Variant-T;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Variant T ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CTAGTACAAGCA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAActagtacaagcaAGATCGAGACCCGACGC chr5:127423132-Variant-T;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative A ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AAGTCGAAGCTA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacAtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAaagtcgaagctaAGATCGAGACCCGACGC chr5:127423132-Alternative-A;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Reference C ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt GATTCTCGATGA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAgattctcgatgaAGATCGAGACCCGACGC chr5:127423132-Reference-C;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Reference C ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CGATTCACAGCT CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcgattcacagctAGATCGAGACCCGACGC chr5:127423132-Reference-C;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Variant T ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt GTCATCGAATCA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacTtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAgtcatcgaatcaAGATCGAGACCCGACGC chr5:127423132-Variant-T;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative G ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AGGACGCATTCT CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAaggacgcattctAGATCGAGACCCGACGC chr5:127423132-Alternative-G;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Reference C ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt AATATGAACGGC CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacCtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAaatatgaacggcAGATCGAGACCCGACGC chr5:127423132-Reference-C;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative G ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CTAACGGCTCTA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAActaacggctctaAGATCGAGACCCGACGC chr5:127423132-Alternative-G;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative G ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt ACCTTACTAAGG CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAaccttactaaggAGATCGAGACCCGACGC chr5:127423132-Alternative-G;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative G ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt GATGAACGGCTA CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAgatgaacggctaAGATCGAGACCCGACGC chr5:127423132-Alternative-G;Patient-59 chr5:127423132-CT DeNovo Patient-59 intronic SLC12A2 0.000127 4.95e-05 0.65 10.7 3.07 SLC12A2 3648 Alternative G ttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacatt CGATCGACGCTT CGACGCGGTCTCTCTCTttttttaagtgttacgaaagaaaaggatacttgtaaagatagaataggacGtaattttaattgggttttgggaaggcgtttttttgagaagtatgacattAGAGGGAGACGGACGTCTCAATAAcgatcgacgcttAGATCGAGACCCGACGC chr5:127423132-Alternative-G;Patient-59 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative G tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggc AATGGTAAGCGA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAaatggtaagcgaAGATCGAGACCCGACGC chr5:127970551-Alternative-G;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative G tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggc GAGCAACCTTAT CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgagcaaccttatAGATCGAGACCCGACGC chr5:127970551-Alternative-G;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Reference T tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggc AAGCAGTCGCAG CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAaagcagtcgcagAGATCGAGACCCGACGC chr5:127970551-Reference-T;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative G tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggc GTTACCTGATGA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgttacctgatgaAGATCGAGACCCGACGC chr5:127970551-Alternative-G;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative A tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggc GGCCATACCTTC CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAggccataccttcAGATCGAGACCCGACGC chr5:127970551-Alternative-A;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative A tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggc GAGCAGCATATA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgagcagcatataAGATCGAGACCCGACGC chr5:127970551-Alternative-A;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Variant C tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggc AGTGACGTTAAG CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAagtgacgttaagAGATCGAGACCCGACGC chr5:127970551-Variant-C;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Variant C tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggc GACCTTAGTCGG CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgaccttagtcggAGATCGAGACCCGACGC chr5:127970551-Variant-C;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Reference T tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggc GCACGATCGTGA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgcacgatcgtgaAGATCGAGACCCGACGC chr5:127970551-Reference-T;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Variant C tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggc GAGTGCGACTTA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgagtgcgacttaAGATCGAGACCCGACGC chr5:127970551-Variant-C;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Variant C tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggc AGGACGCATATA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAaggacgcatataAGATCGAGACCCGACGC chr5:127970551-Variant-C;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative A tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggc CGGTACACGTAT CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAcggtacacgtatAGATCGAGACCCGACGC chr5:127970551-Alternative-A;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Variant C tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggc CAACGGACGAGT CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttCtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAcaacggacgagtAGATCGAGACCCGACGC chr5:127970551-Variant-C;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative G tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggc ACTCGTTGAACA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAactcgttgaacaAGATCGAGACCCGACGC chr5:127970551-Alternative-G;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Reference T tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggc GCATCGTCGGAT CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgcatcgtcggatAGATCGAGACCCGACGC chr5:127970551-Reference-T;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Reference T tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggc GATCGCGTTGCT CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgatcgcgttgctAGATCGAGACCCGACGC chr5:127970551-Reference-T;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative G tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggc GTTCCGTGACGA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttGtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgttccgtgacgaAGATCGAGACCCGACGC chr5:127970551-Alternative-G;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative A tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggc AGCTCGTAATCA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAagctcgtaatcaAGATCGAGACCCGACGC chr5:127970551-Alternative-A;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Reference T tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggc GACGGTAGTACG CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttTtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgacggtagtacgAGATCGAGACCCGACGC chr5:127970551-Reference-T;Patient-73 chr5:127970551-TC DeNovo Patient-73 intergenic 0.000796 0.00154 0.17 5.4 0.23 FBN2 96815 Alternative A tatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggc GTGCGGTGTAGA CGACGCGGTCTCTCTCTtatcttttgttgcaggtcagctattcacatgaagaactcgtgtctgatttAtagcaatttcagccctttgtctacaagacataagactctcacccagggcAGAGGGAGACGGACGTCTCAATAAgtgcggtgtagaAGATCGAGACCCGACGC chr5:127970551-Alternative-A;Patient-73 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative T gcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc ACAGATTCCTGA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAacagattcctgaAGATCGAGACCCGACGC chr5:131367233-Alternative-T;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Variant A gcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc AGACGTTCCAAC CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAagacgttccaacAGATCGAGACCCGACGC chr5:131367233-Variant-A;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative T gcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GAATTAGTCGAG CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgaattagtcgagAGATCGAGACCCGACGC chr5:131367233-Alternative-T;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Reference G gcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GCGCTACTACAC CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgcgctactacacAGATCGAGACCCGACGC chr5:131367233-Reference-G;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative C gcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GGAGTCATACGG CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAggagtcatacggAGATCGAGACCCGACGC chr5:131367233-Alternative-C;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Variant A gcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GTAACGACGCTA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgtaacgacgctaAGATCGAGACCCGACGC chr5:131367233-Variant-A;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Reference G gcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GATGTGAACAAC CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgatgtgaacaacAGATCGAGACCCGACGC chr5:131367233-Reference-G;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Variant A gcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc ATAGCGCAATGT CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAatagcgcaatgtAGATCGAGACCCGACGC chr5:131367233-Variant-A;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative T gcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc AGCTATAAGGCA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAagctataaggcaAGATCGAGACCCGACGC chr5:131367233-Alternative-T;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative T gcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GATGCTCTCGCT CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgatgctctcgctAGATCGAGACCCGACGC chr5:131367233-Alternative-T;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative C gcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc AGGTTGCCTCGA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAaggttgcctcgaAGATCGAGACCCGACGC chr5:131367233-Alternative-C;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative C gcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc CTGGTCTACGCT CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAActggtctacgctAGATCGAGACCCGACGC chr5:131367233-Alternative-C;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative C gcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GGTAGCGAACAT CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAggtagcgaacatAGATCGAGACCCGACGC chr5:131367233-Alternative-C;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Variant A gcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc AGTTCCAGCGCA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAagttccagcgcaAGATCGAGACCCGACGC chr5:131367233-Variant-A;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative C gcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc CGATACTGATGA CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcCatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAcgatactgatgaAGATCGAGACCCGACGC chr5:131367233-Alternative-C;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Variant A gcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GCCAATCCTACC CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcAatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgccaatcctaccAGATCGAGACCCGACGC chr5:131367233-Variant-A;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Reference G gcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc ACAGCACATAAG CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAacagcacataagAGATCGAGACCCGACGC chr5:131367233-Reference-G;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Alternative T gcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GCGGTTATCACG CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcTatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgcggttatcacgAGATCGAGACCCGACGC chr5:131367233-Alternative-T;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Reference G gcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc GTTCTGGTTGTT CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAgttctggttgttAGATCGAGACCCGACGC chr5:131367233-Reference-G;Patient-37 chr5:131367233-GA DeNovo Patient-37 intergenic 0.000127 0.000513 0.06 3.56 1.71 IL3 29113 Reference G gcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctc CGCCTATACTTC CGACGCGGTCTCTCTCTgcccaactagacaaaggttccctagactggtaggagggagtatttggggcGatgccagccagagggaaagcgaaggtccctaggaaaagtcctgtccctcAGAGGGAGACGGACGTCTCAATAAcgcctatacttcAGATCGAGACCCGACGC chr5:131367233-Reference-G;Patient-37 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Variant C agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag AGGTTGGATACT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAaggttggatactAGATCGAGACCCGACGC chr5:1316280-Variant-C;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative A agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag CGGATTAGATGA CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAcggattagatgaAGATCGAGACCCGACGC chr5:1316280-Alternative-A;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Variant C agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GACAACTATTCG CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgacaactattcgAGATCGAGACCCGACGC chr5:1316280-Variant-C;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Variant C agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag CAGCTGGTATAT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAcagctggtatatAGATCGAGACCCGACGC chr5:1316280-Variant-C;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Reference T agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GTTAGACATCGA CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgttagacatcgaAGATCGAGACCCGACGC chr5:1316280-Reference-T;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Variant C agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag ACGGCGTACAAG CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAacggcgtacaagAGATCGAGACCCGACGC chr5:1316280-Variant-C;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative G agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GCGATAACGCAT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgcgataacgcatAGATCGAGACCCGACGC chr5:1316280-Alternative-G;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative A agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GCCTGATTAAGT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgcctgattaagtAGATCGAGACCCGACGC chr5:1316280-Alternative-A;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Variant C agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag AGACCATCGACC CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcCgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAagaccatcgaccAGATCGAGACCCGACGC chr5:1316280-Variant-C;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative G agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GTTACCGAAGTT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgttaccgaagttAGATCGAGACCCGACGC chr5:1316280-Alternative-G;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Reference T agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GTGCCAGTCAAT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgtgccagtcaatAGATCGAGACCCGACGC chr5:1316280-Reference-T;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative G agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag CACAATCAACGG CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAcacaatcaacggAGATCGAGACCCGACGC chr5:1316280-Alternative-G;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative A agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GCACGCGTTGTT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAgcacgcgttgttAGATCGAGACCCGACGC chr5:1316280-Alternative-A;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative G agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag CGAACGACGATT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAcgaacgacgattAGATCGAGACCCGACGC chr5:1316280-Alternative-G;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Reference T agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GGAGTCATTCGC CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAggagtcattcgcAGATCGAGACCCGACGC chr5:1316280-Reference-T;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Reference T agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag ACCTGACGAATT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAacctgacgaattAGATCGAGACCCGACGC chr5:1316280-Reference-T;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative A agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag ATCGTAGTGAGA CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAatcgtagtgagaAGATCGAGACCCGACGC chr5:1316280-Alternative-A;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative A agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag AGAACGGCTCTA CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcAgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAagaacggctctaAGATCGAGACCCGACGC chr5:1316280-Alternative-A;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Alternative G agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag CGCGGCTACTAA CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcGgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAcgcggctactaaAGATCGAGACCCGACGC chr5:1316280-Alternative-G;Patient-84 chr5:1316280-TC Inherited Patient-84 intergenic NA 0.000512821 0.28 6.96 0.46 TERT 21117 Reference T agttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggag GGACAGTATAGT CGACGCGGTCTCTCTCTagttaggcccggctttggctgctgatgcaggggccgaatgacgctatttcTgcagcagccggccgcaggcgctgacccaccgcgggatgtgccccaggagAGAGGGAGACGGACGTCTCAATAAggacagtatagtAGATCGAGACCCGACGC chr5:1316280-Reference-T;Patient-84 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative T agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GCAGGACATTCA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAgcaggacattcaAGATCGAGACCCGACGC chr5:131850658-Alternative-T;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative G agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CGTAGCTCTGAG CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAcgtagctctgagAGATCGAGACCCGACGC chr5:131850658-Alternative-G;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative T agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagat ACCTTATCGGAA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAaccttatcggaaAGATCGAGACCCGACGC chr5:131850658-Alternative-T;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Reference A agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GACTGTCGCGTT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAgactgtcgcgttAGATCGAGACCCGACGC chr5:131850658-Reference-A;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative T agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagat AGGCTGTGGACA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAaggctgtggacaAGATCGAGACCCGACGC chr5:131850658-Alternative-T;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Variant C agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CTCGGTTCGTAC CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAActcggttcgtacAGATCGAGACCCGACGC chr5:131850658-Variant-C;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative T agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagat ATTGGACTCAGA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAattggactcagaAGATCGAGACCCGACGC chr5:131850658-Alternative-T;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative G agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagat AGCGTCGGCTTA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAagcgtcggcttaAGATCGAGACCCGACGC chr5:131850658-Alternative-G;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative G agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GGTTGTTCTTGT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAggttgttcttgtAGATCGAGACCCGACGC chr5:131850658-Alternative-G;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative G agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GGTCTGTTAAGT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAggtctgttaagtAGATCGAGACCCGACGC chr5:131850658-Alternative-G;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Variant C agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CAACCAGACGAA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAcaaccagacgaaAGATCGAGACCCGACGC chr5:131850658-Variant-C;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative T agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GTAGAACGTAGT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaTagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAgtagaacgtagtAGATCGAGACCCGACGC chr5:131850658-Alternative-T;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Reference A agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CGGCTGCGATTA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAcggctgcgattaAGATCGAGACCCGACGC chr5:131850658-Reference-A;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Alternative G agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CTGTGGATTAAG CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaGagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAActgtggattaagAGATCGAGACCCGACGC chr5:131850658-Alternative-G;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Reference A agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagat ACGGTAGTCGCT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAacggtagtcgctAGATCGAGACCCGACGC chr5:131850658-Reference-A;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Reference A agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CGACAGATGCCT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAcgacagatgcctAGATCGAGACCCGACGC chr5:131850658-Reference-A;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Variant C agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagat CGGCAGTTATTA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAcggcagttattaAGATCGAGACCCGACGC chr5:131850658-Variant-C;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Reference A agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagat ATTCATACGGCA CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaAagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAattcatacggcaAGATCGAGACCCGACGC chr5:131850658-Reference-A;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Variant C agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagat ACTTCGCGCAGT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAacttcgcgcagtAGATCGAGACCCGACGC chr5:131850658-Variant-C;Patient-34 chr5:131850658-AC Inherited Patient-34 intergenic NA 0.000513 0.09 4.1 0 IRF1 24192 Variant C agcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagat GGCGTGAACCTT CGACGCGGTCTCTCTCTagcgcctctcctcctccaaaggaacgcagttcctcaccagcaacggaacaCagctggatggagaatgattttgacgagctgagagaagaaggcttcagatAGAGGGAGACGGACGTCTCAATAAggcgtgaaccttAGATCGAGACCCGACGC chr5:131850658-Variant-C;Patient-34 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Variant G gtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GTAACCGTGTGA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgtaaccgtgtgaAGATCGAGACCCGACGC chr5:132178264-Variant-G;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Variant G gtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GCGTGTAATATC CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgcgtgtaatatcAGATCGAGACCCGACGC chr5:132178264-Variant-G;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Reference A gtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt CTATAGCTGGCG CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAActatagctggcgAGATCGAGACCCGACGC chr5:132178264-Reference-A;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative T gtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt CGACGGCAGTAA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAcgacggcagtaaAGATCGAGACCCGACGC chr5:132178264-Alternative-T;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Reference A gtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt ACGCTCTAGTAA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAacgctctagtaaAGATCGAGACCCGACGC chr5:132178264-Reference-A;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative T gtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt ACCGCCTAAGCA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAaccgcctaagcaAGATCGAGACCCGACGC chr5:132178264-Alternative-T;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Variant G gtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt ACACGGATAAGG CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAacacggataaggAGATCGAGACCCGACGC chr5:132178264-Variant-G;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative C gtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt AGGTTGCGAGGT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAaggttgcgaggtAGATCGAGACCCGACGC chr5:132178264-Alternative-C;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Reference A gtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GACGGAAGACAT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgacggaagacatAGATCGAGACCCGACGC chr5:132178264-Reference-A;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Variant G gtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GATCCGTAAGAA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgatccgtaagaaAGATCGAGACCCGACGC chr5:132178264-Variant-G;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Reference A gtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt CAACGTGTGGAG CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAcaacgtgtggagAGATCGAGACCCGACGC chr5:132178264-Reference-A;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Variant G gtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt ACAACGCGCACA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccGaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAacaacgcgcacaAGATCGAGACCCGACGC chr5:132178264-Variant-G;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Reference A gtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt CTATCGCGAATT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccAaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAActatcgcgaattAGATCGAGACCCGACGC chr5:132178264-Reference-A;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative T gtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GCCTGATAGATT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgcctgatagattAGATCGAGACCCGACGC chr5:132178264-Alternative-T;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative T gtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt AGGCTGTGTCGT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAaggctgtgtcgtAGATCGAGACCCGACGC chr5:132178264-Alternative-T;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative T gtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GTCCGGCAAGTT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccTaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgtccggcaagttAGATCGAGACCCGACGC chr5:132178264-Alternative-T;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative C gtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GGTGGTCTTCGA CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAggtggtcttcgaAGATCGAGACCCGACGC chr5:132178264-Alternative-C;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative C gtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt GACAACGGCCTT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAgacaacggccttAGATCGAGACCCGACGC chr5:132178264-Alternative-C;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative C gtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt ATTCGAGCGTGG CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAattcgagcgtggAGATCGAGACCCGACGC chr5:132178264-Alternative-C;Patient-35 chr5:132178264-AG DeNovo Patient-35 intergenic 3.5e-05 0.000513 0.39 8.3 2.71 GDF9 22212 Alternative C gtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaatt AGTGTAGTAGGT CGACGCGGTCTCTCTCTgtctcaataataataataataataataataataataataataataaagccCaactgcaactctctggtcttcctgaaatagtgaatgctttccctaaattAGAGGGAGACGGACGTCTCAATAAagtgtagtaggtAGATCGAGACCCGACGC chr5:132178264-Alternative-C;Patient-35 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Variant T aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GCATACGTAGAA CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgcatacgtagaaAGATCGAGACCCGACGC chr5:132449974-Variant-T;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative G aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggag ACACATAAGACG CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAacacataagacgAGATCGAGACCCGACGC chr5:132449974-Alternative-G;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Variant T aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CAGCGGTACACT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcagcggtacactAGATCGAGACCCGACGC chr5:132449974-Variant-T;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative G aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GGCTTATGTAAC CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAggcttatgtaacAGATCGAGACCCGACGC chr5:132449974-Alternative-G;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Variant T aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GCGATAGCTATA CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgcgatagctataAGATCGAGACCCGACGC chr5:132449974-Variant-T;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative G aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGGTAGCATAAT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcggtagcataatAGATCGAGACCCGACGC chr5:132449974-Alternative-G;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Variant T aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CTAAGCGCGCTT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAActaagcgcgcttAGATCGAGACCCGACGC chr5:132449974-Variant-T;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative G aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggag ACAACCTACCGT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAacaacctaccgtAGATCGAGACCCGACGC chr5:132449974-Alternative-G;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative G aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GGCAAGCTCTAA CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaGggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAggcaagctctaaAGATCGAGACCCGACGC chr5:132449974-Alternative-G;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Variant T aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGCATATCGACT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaTggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcgcatatcgactAGATCGAGACCCGACGC chr5:132449974-Variant-T;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative A aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGTTGCATGTGG CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcgttgcatgtggAGATCGAGACCCGACGC chr5:132449974-Alternative-A;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative A aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GTAACGCTAGTT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgtaacgctagttAGATCGAGACCCGACGC chr5:132449974-Alternative-A;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Reference C aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGGTACACCAAG CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcggtacaccaagAGATCGAGACCCGACGC chr5:132449974-Reference-C;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative A aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GCAACTGTTAGT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgcaactgttagtAGATCGAGACCCGACGC chr5:132449974-Alternative-A;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Reference C aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGTTAATGCGAA CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcgttaatgcgaaAGATCGAGACCCGACGC chr5:132449974-Reference-C;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Reference C aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggag CGGAATCCTGCA CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAcggaatcctgcaAGATCGAGACCCGACGC chr5:132449974-Reference-C;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Reference C aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GCCTTAAGTAAC CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgccttaagtaacAGATCGAGACCCGACGC chr5:132449974-Reference-C;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative A aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggag ACGAGCTCGGTT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAacgagctcggttAGATCGAGACCCGACGC chr5:132449974-Alternative-A;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Reference C aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggag GCGCGCTTACAT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaCggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAgcgcgcttacatAGATCGAGACCCGACGC chr5:132449974-Reference-C;Patient-32 chr5:132449974-CT DeNovo Patient-32 intergenic 0.000191 0.00016 -0.33 0.29 -4.07 HSPA4 62311 Alternative A aatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggag AGTGCTTGCATT CGACGCGGTCTCTCTCTaatttgagtttacaaaataagtatcacctgacaatctggcgtggctgtcaAggcatccacccccaggaatgggcagctggtggaggacttcacctgggagAGAGGGAGACGGACGTCTCAATAAagtgcttgcattAGATCGAGACCCGACGC chr5:132449974-Alternative-A;Patient-32 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Variant G aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaagga ACTATGCGCGAG CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAactatgcgcgagAGATCGAGACCCGACGC chr5:133490615-Variant-G;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative C aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GTCGTGTCGCTT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAgtcgtgtcgcttAGATCGAGACCCGACGC chr5:133490615-Alternative-C;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Variant G aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GGAATACCACCG CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAggaataccaccgAGATCGAGACCCGACGC chr5:133490615-Variant-G;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Variant G aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaagga AGTTCCGACACG CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAagttccgacacgAGATCGAGACCCGACGC chr5:133490615-Variant-G;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Variant G aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaagga ATCCGCATTGAA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAatccgcattgaaAGATCGAGACCCGACGC chr5:133490615-Variant-G;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative C aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CACGCACCTCTT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAcacgcacctcttAGATCGAGACCCGACGC chr5:133490615-Alternative-C;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Reference A aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GGAGACAGTCGT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAggagacagtcgtAGATCGAGACCCGACGC chr5:133490615-Reference-A;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Reference A aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GGCGTCTGTCTA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAggcgtctgtctaAGATCGAGACCCGACGC chr5:133490615-Reference-A;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative T aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CTAAGTGTTCCT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAActaagtgttcctAGATCGAGACCCGACGC chr5:133490615-Alternative-T;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative T aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CGCAGATGTTCA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAcgcagatgttcaAGATCGAGACCCGACGC chr5:133490615-Alternative-T;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative C aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GATAGACTGACT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAgatagactgactAGATCGAGACCCGACGC chr5:133490615-Alternative-C;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Variant G aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CACGTGTGTGCA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaGaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAcacgtgtgtgcaAGATCGAGACCCGACGC chr5:133490615-Variant-G;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative C aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CGCTACACGTGT CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAcgctacacgtgtAGATCGAGACCCGACGC chr5:133490615-Alternative-C;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Reference A aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaagga ACGCGAAGTACA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAacgcgaagtacaAGATCGAGACCCGACGC chr5:133490615-Reference-A;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Reference A aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CTTACGTCGTTA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAActtacgtcgttaAGATCGAGACCCGACGC chr5:133490615-Reference-A;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Reference A aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaagga ATATGATACCGC CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaAaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAatatgataccgcAGATCGAGACCCGACGC chr5:133490615-Reference-A;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative T aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaagga ACAGACTTAGCG CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAacagacttagcgAGATCGAGACCCGACGC chr5:133490615-Alternative-T;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative T aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaagga CTTATCGTACCA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAActtatcgtaccaAGATCGAGACCCGACGC chr5:133490615-Alternative-T;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative T aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GTGTTATGCCGG CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaTaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAgtgttatgccggAGATCGAGACCCGACGC chr5:133490615-Alternative-T;Patient-45 chr5:133490615-AG DeNovo Patient-45 intergenic NA 0.000513 -0.23 0.59 -3.17 SKP1 22108 Alternative C aaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaagga GACGCGCAACTA CGACGCGGTCTCTCTCTaaaccaaggctattatcagctattatcaagctctcccctctcatgcattaCaactactcttcttgttttcattatgccctgtacctgcatttcacaaggaAGAGGGAGACGGACGTCTCAATAAgacgcgcaactaAGATCGAGACCCGACGC chr5:133490615-Alternative-C;Patient-45 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative A attatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CTTACGGCTACC CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAActtacggctaccAGATCGAGACCCGACGC chr5:133536632-Alternative-A;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative A attatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GCGTACGACTTC CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAgcgtacgacttcAGATCGAGACCCGACGC chr5:133536632-Alternative-A;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Reference C attatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGCTAACATTCA CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcgctaacattcaAGATCGAGACCCGACGC chr5:133536632-Reference-C;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Reference C attatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GGCTATAAGTAC CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAggctataagtacAGATCGAGACCCGACGC chr5:133536632-Reference-C;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative A attatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GTACCAATTCCT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAgtaccaattcctAGATCGAGACCCGACGC chr5:133536632-Alternative-A;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Reference C attatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg ACTCGTGATTCT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAactcgtgattctAGATCGAGACCCGACGC chr5:133536632-Reference-C;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Reference C attatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg ACTTGTAGTACG CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAacttgtagtacgAGATCGAGACCCGACGC chr5:133536632-Reference-C;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Reference C attatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GTATCTCCGCGT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcCctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAgtatctccgcgtAGATCGAGACCCGACGC chr5:133536632-Reference-C;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Variant T attatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GGACGGAGTTGT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAggacggagttgtAGATCGAGACCCGACGC chr5:133536632-Variant-T;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Variant T attatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGGCTGAGAGAT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcggctgagagatAGATCGAGACCCGACGC chr5:133536632-Variant-T;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative G attatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GTATTAGTCCGA CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAgtattagtccgaAGATCGAGACCCGACGC chr5:133536632-Alternative-G;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative G attatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GGTCGTACATCG CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAggtcgtacatcgAGATCGAGACCCGACGC chr5:133536632-Alternative-G;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative A attatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGTCAAGCGAAC CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcgtcaagcgaacAGATCGAGACCCGACGC chr5:133536632-Alternative-A;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Variant T attatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GCACGATTGCGT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAgcacgattgcgtAGATCGAGACCCGACGC chr5:133536632-Variant-T;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Variant T attatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CATAGACATCGG CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcatagacatcggAGATCGAGACCCGACGC chr5:133536632-Variant-T;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative G attatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg GGTGAACGGATT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAggtgaacggattAGATCGAGACCCGACGC chr5:133536632-Alternative-G;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative G attatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGCTGAATAAGA CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcgctgaataagaAGATCGAGACCCGACGC chr5:133536632-Alternative-G;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Variant T attatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGCGTAGTCTAC CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcTctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcgcgtagtctacAGATCGAGACCCGACGC chr5:133536632-Variant-T;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative G attatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGGTAATCGATT CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcGctaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcggtaatcgattAGATCGAGACCCGACGC chr5:133536632-Alternative-G;Patient-69 chr5:133536632-CT DeNovo Patient-69 intronic PPP2CA 4e-05 0.000198 -0.27 0.45 -2.42 PPP2CA 25317 Alternative A attatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatg CGTCGATTATGA CGACGCGGTCTCTCTCTattatatgagagaatacatctaatgaacttacaattaaacttctccactcActaataagttttctgaaagaattttatcaaataaaagtcatacctcatgAGAGGGAGACGGACGTCTCAATAAcgtcgattatgaAGATCGAGACCCGACGC chr5:133536632-Alternative-A;Patient-69 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Variant T aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AGTGTATGGAGT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAagtgtatggagtAGATCGAGACCCGACGC chr5:133590299-Variant-T;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Variant T aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CGGACATACTAA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcggacatactaaAGATCGAGACCCGACGC chr5:133590299-Variant-T;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Variant T aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CATCGCGGAACA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcatcgcggaacaAGATCGAGACCCGACGC chr5:133590299-Variant-T;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Variant T aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt ATATGATGCGCT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAatatgatgcgctAGATCGAGACCCGACGC chr5:133590299-Variant-T;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative G aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AGCACCTCTATT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAagcacctctattAGATCGAGACCCGACGC chr5:133590299-Alternative-G;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative G aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt ATTCGAGTCAAG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAattcgagtcaagAGATCGAGACCCGACGC chr5:133590299-Alternative-G;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative A aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AAGGTTAGGTGT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAaaggttaggtgtAGATCGAGACCCGACGC chr5:133590299-Alternative-A;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative G aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt ATCGTTCGAGAT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAatcgttcgagatAGATCGAGACCCGACGC chr5:133590299-Alternative-G;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Variant T aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt GGTAATGCGTAA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcTtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAggtaatgcgtaaAGATCGAGACCCGACGC chr5:133590299-Variant-T;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative A aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CAGACTATGAGT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcagactatgagtAGATCGAGACCCGACGC chr5:133590299-Alternative-A;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative G aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CTATGCCAATCG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAActatgccaatcgAGATCGAGACCCGACGC chr5:133590299-Alternative-G;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative A aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CGAATCGGCATT CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcgaatcggcattAGATCGAGACCCGACGC chr5:133590299-Alternative-A;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative G aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AACGACCGATCG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcGtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAaacgaccgatcgAGATCGAGACCCGACGC chr5:133590299-Alternative-G;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Reference C aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt GTAGATTGCTTC CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAgtagattgcttcAGATCGAGACCCGACGC chr5:133590299-Reference-C;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Reference C aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CGCGCAGAGTAA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcgcgcagagtaaAGATCGAGACCCGACGC chr5:133590299-Reference-C;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative A aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CAGCGAACATAA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcagcgaacataaAGATCGAGACCCGACGC chr5:133590299-Alternative-A;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Reference C aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt GATGGAGGTTCG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAgatggaggttcgAGATCGAGACCCGACGC chr5:133590299-Reference-C;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Reference C aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt CATCACACGTGG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAcatcacacgtggAGATCGAGACCCGACGC chr5:133590299-Reference-C;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Alternative A aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AGTACGCCATGG CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcAtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAagtacgccatggAGATCGAGACCCGACGC chr5:133590299-Alternative-A;Patient-43 chr5:133590299-CT DeNovo Patient-43 intergenic NA 6.28e-05 0.32 7.47 0.91 PPP2CA 28348 Reference C aactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaattt AACGTAGCGTAA CGACGCGGTCTCTCTCTaactatctcaaaaaaagagaactaccctttatttcagactgggtagaatcCtggctctgtcacttaccagctgtgtgactttgagaaaatcacttaatttAGAGGGAGACGGACGTCTCAATAAaacgtagcgtaaAGATCGAGACCCGACGC chr5:133590299-Reference-C;Patient-43 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative C cctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggt AGAATTGTCGAC CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAagaattgtcgacAGATCGAGACCCGACGC chr5:133786864-Alternative-C;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative C cctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggt GCGTCAATCAAT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAgcgtcaatcaatAGATCGAGACCCGACGC chr5:133786864-Alternative-C;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative C cctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggt GGTAGTTATGCA CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAggtagttatgcaAGATCGAGACCCGACGC chr5:133786864-Alternative-C;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative C cctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggt GGACATAGGTTA CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAggacataggttaAGATCGAGACCCGACGC chr5:133786864-Alternative-C;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Variant G cctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggt GTGCCGTAATCG CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAgtgccgtaatcgAGATCGAGACCCGACGC chr5:133786864-Variant-G;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Reference A cctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggt CACGGCATATAC CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAcacggcatatacAGATCGAGACCCGACGC chr5:133786864-Reference-A;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Variant G cctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggt CACAGGACCTAT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAcacaggacctatAGATCGAGACCCGACGC chr5:133786864-Variant-G;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Reference A cctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggt AGTTCGTATGCA CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAagttcgtatgcaAGATCGAGACCCGACGC chr5:133786864-Reference-A;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Reference A cctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggt AGCGTTGGAGCA CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAagcgttggagcaAGATCGAGACCCGACGC chr5:133786864-Reference-A;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Reference A cctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggt CTTACACGGTCC CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAActtacacggtccAGATCGAGACCCGACGC chr5:133786864-Reference-A;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Variant G cctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggt AGTACCACCATT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAagtaccaccattAGATCGAGACCCGACGC chr5:133786864-Variant-G;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Reference A cctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggt AGCTCGGATGCT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttActcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAagctcggatgctAGATCGAGACCCGACGC chr5:133786864-Reference-A;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative C cctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggt CTGAGGCAGTAC CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttCctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAActgaggcagtacAGATCGAGACCCGACGC chr5:133786864-Alternative-C;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Variant G cctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggt GCGAGATTAACT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAgcgagattaactAGATCGAGACCCGACGC chr5:133786864-Variant-G;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative T cctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggt ACTCCGACACAT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAactccgacacatAGATCGAGACCCGACGC chr5:133786864-Alternative-T;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative T cctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggt ACATCGAGCACG CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAacatcgagcacgAGATCGAGACCCGACGC chr5:133786864-Alternative-T;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative T cctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggt GGCGGTTATACG CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAggcggttatacgAGATCGAGACCCGACGC chr5:133786864-Alternative-T;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative T cctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggt CATGCGGTTGCT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAcatgcggttgctAGATCGAGACCCGACGC chr5:133786864-Alternative-T;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Alternative T cctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggt GGAAGTTACGGC CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttTctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAggaagttacggcAGATCGAGACCCGACGC chr5:133786864-Alternative-T;Patient-30 chr5:133786864-AG Inherited Patient-30 intergenic 0.000383 0.00103 NA NA NA UBE2B 79993 Variant G cctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggt GTTCCATTACGT CGACGCGGTCTCTCTCTcctagactctggatagaatagtttccctgtttggcagtaaaactttttttGctcagcactcaatctttggcctctggtctttttttagtttctttttggtAGAGGGAGACGGACGTCTCAATAAgttccattacgtAGATCGAGACCCGACGC chr5:133786864-Variant-G;Patient-30 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative G catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CACACGCTGACA CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcacacgctgacaAGATCGAGACCCGACGC chr5:135825-Alternative-G;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative G catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacag ACCAACTAATCG CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAaccaactaatcgAGATCGAGACCCGACGC chr5:135825-Alternative-G;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Variant A catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CTCGCCTTGGAA CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAActcgccttggaaAGATCGAGACCCGACGC chr5:135825-Variant-A;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Variant A catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacag GATACTGCTTCT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAgatactgcttctAGATCGAGACCCGACGC chr5:135825-Variant-A;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Variant A catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CGTTGGATTGAA CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcgttggattgaaAGATCGAGACCCGACGC chr5:135825-Variant-A;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative C catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CTAGTCAGGCCT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAActagtcaggcctAGATCGAGACCCGACGC chr5:135825-Alternative-C;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative G catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacag GTGTAGGTTCTA CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAgtgtaggttctaAGATCGAGACCCGACGC chr5:135825-Alternative-G;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Variant A catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CGTGTCGTCCAT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcgtgtcgtccatAGATCGAGACCCGACGC chr5:135825-Variant-A;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Reference T catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacag AGTACTAGGTTC CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAagtactaggttcAGATCGAGACCCGACGC chr5:135825-Reference-T;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative C catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacag ATAAGACGGCAT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAataagacggcatAGATCGAGACCCGACGC chr5:135825-Alternative-C;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Reference T catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacag ATAGCGAGAGCT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAatagcgagagctAGATCGAGACCCGACGC chr5:135825-Reference-T;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative G catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacag GAAGAGATGAGT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAgaagagatgagtAGATCGAGACCCGACGC chr5:135825-Alternative-G;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Reference T catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CGAATACGGACG CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcgaatacggacgAGATCGAGACCCGACGC chr5:135825-Reference-T;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Variant A catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacag GTTGGTCTGGCA CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataAatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAgttggtctggcaAGATCGAGACCCGACGC chr5:135825-Variant-A;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative G catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CTCGCGACCATT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataGatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAActcgcgaccattAGATCGAGACCCGACGC chr5:135825-Alternative-G;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Reference T catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacag AGCCAAGATCAT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAagccaagatcatAGATCGAGACCCGACGC chr5:135825-Reference-T;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Reference T catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacag ACGCGAATTGTT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataTatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAacgcgaattgttAGATCGAGACCCGACGC chr5:135825-Reference-T;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative C catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CGCAATCTATAC CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcgcaatctatacAGATCGAGACCCGACGC chr5:135825-Alternative-C;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative C catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacag AGTTACGGCCGT CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAagttacggccgtAGATCGAGACCCGACGC chr5:135825-Alternative-C;Patient-58 chr5:135825-TA Inherited Patient-58 intergenic 0.000658 0.00205 0.12 4.66 0 SDHA 82530 Alternative C catctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacag CAGATTACGAAG CGACGCGGTCTCTCTCTcatctcaaaaaaaaaaaaaaaaaatatatatatatatatatatatatataCatatatatatatatatatgtatgtcagtactacccaaagtgatctacagAGAGGGAGACGGACGTCTCAATAAcagattacgaagAGATCGAGACCCGACGC chr5:135825-Alternative-C;Patient-58 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative A ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa ATCGTGCGATGC CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAatcgtgcgatgcAGATCGAGACCCGACGC chr5:137050976-Alternative-A;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative A ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa ATTCCGTCTTGA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAattccgtcttgaAGATCGAGACCCGACGC chr5:137050976-Alternative-A;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative A ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GCCGTAGCATGA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgccgtagcatgaAGATCGAGACCCGACGC chr5:137050976-Alternative-A;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative A ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa ACCTTAGGCCGA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAaccttaggccgaAGATCGAGACCCGACGC chr5:137050976-Alternative-A;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Variant C ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa AGCTCACAATCA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAagctcacaatcaAGATCGAGACCCGACGC chr5:137050976-Variant-C;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Variant C ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa ACACATACGAGA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAacacatacgagaAGATCGAGACCCGACGC chr5:137050976-Variant-C;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative G ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GGTGACTATAGA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAggtgactatagaAGATCGAGACCCGACGC chr5:137050976-Alternative-G;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Variant C ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GCGTATCATACT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgcgtatcatactAGATCGAGACCCGACGC chr5:137050976-Variant-C;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative A ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa AACGCAGACGGT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcAtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAaacgcagacggtAGATCGAGACCCGACGC chr5:137050976-Alternative-A;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Variant C ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa AGATCCTGATGG CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAagatcctgatggAGATCGAGACCCGACGC chr5:137050976-Variant-C;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative G ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GTGACGATGACG CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgtgacgatgacgAGATCGAGACCCGACGC chr5:137050976-Alternative-G;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Variant C ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GGCTATCAGTCG CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcCtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAggctatcagtcgAGATCGAGACCCGACGC chr5:137050976-Variant-C;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative G ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa CGTGCTTGCGAT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAcgtgcttgcgatAGATCGAGACCCGACGC chr5:137050976-Alternative-G;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative G ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa CGTGGTACACGT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAcgtggtacacgtAGATCGAGACCCGACGC chr5:137050976-Alternative-G;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Reference T ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GCAAGATAGTGT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgcaagatagtgtAGATCGAGACCCGACGC chr5:137050976-Reference-T;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Reference T ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GCATGTACTAAC CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgcatgtactaacAGATCGAGACCCGACGC chr5:137050976-Reference-T;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Alternative G ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GTGACGTTATCA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcGtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgtgacgttatcaAGATCGAGACCCGACGC chr5:137050976-Alternative-G;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Reference T ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa CATGACACGATT CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAcatgacacgattAGATCGAGACCCGACGC chr5:137050976-Reference-T;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Reference T ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GTCCGAACGATA CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgtccgaacgataAGATCGAGACCCGACGC chr5:137050976-Reference-T;Patient-86 chr5:137050976-TC DeNovo Patient-86 intronic KLHL3 0.000191 4.95e-05 1.1 13.88 3.72 KLHL3 20802 Reference T ttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaa GCGCTAGTATCG CGACGCGGTCTCTCTCTttgtgtgattcataaattgcaaagaacatgtgtgcttgaactaaaatagcTtaaaattaagggaagggaatgtgaaagcaatgcaagaaataatcccaaaAGAGGGAGACGGACGTCTCAATAAgcgctagtatcgAGATCGAGACCCGACGC chr5:137050976-Reference-T;Patient-86 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative G atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag CGTCGCGAATGT CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAcgtcgcgaatgtAGATCGAGACCCGACGC chr5:137088120-Alternative-G;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative G atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AATGGAACAGCA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAaatggaacagcaAGATCGAGACCCGACGC chr5:137088120-Alternative-G;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Reference T atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag ACGACGAGATGC CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAacgacgagatgcAGATCGAGACCCGACGC chr5:137088120-Reference-T;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative G atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AAGATAGTGGAG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAaagatagtggagAGATCGAGACCCGACGC chr5:137088120-Alternative-G;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative A atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AACTCTTGGCCG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAaactcttggccgAGATCGAGACCCGACGC chr5:137088120-Alternative-A;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative A atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GTTACTGCGTAT CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgttactgcgtatAGATCGAGACCCGACGC chr5:137088120-Alternative-A;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative G atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AGTGTCTATCGG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAagtgtctatcggAGATCGAGACCCGACGC chr5:137088120-Alternative-G;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative G atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag CGATTACCGCAA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtGttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAcgattaccgcaaAGATCGAGACCCGACGC chr5:137088120-Alternative-G;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative A atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag CTAGGCGAGCAT CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAActaggcgagcatAGATCGAGACCCGACGC chr5:137088120-Alternative-A;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative A atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AATACGTCGTAC CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAaatacgtcgtacAGATCGAGACCCGACGC chr5:137088120-Alternative-A;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Reference T atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GCACGTAGATGG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgcacgtagatggAGATCGAGACCCGACGC chr5:137088120-Reference-T;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Alternative A atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GATAGCGCTAGG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtAttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgatagcgctaggAGATCGAGACCCGACGC chr5:137088120-Alternative-A;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Variant C atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AGAATGACGAGA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAagaatgacgagaAGATCGAGACCCGACGC chr5:137088120-Variant-C;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Reference T atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag CGCGCTTATAAG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAcgcgcttataagAGATCGAGACCCGACGC chr5:137088120-Reference-T;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Variant C atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag CGTAGGATCGTC CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAcgtaggatcgtcAGATCGAGACCCGACGC chr5:137088120-Variant-C;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Reference T atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GAATCTCGGCGA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgaatctcggcgaAGATCGAGACCCGACGC chr5:137088120-Reference-T;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Variant C atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GACCAACAGACG CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgaccaacagacgAGATCGAGACCCGACGC chr5:137088120-Variant-C;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Reference T atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GTTGACTCGCGA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtTttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgttgactcgcgaAGATCGAGACCCGACGC chr5:137088120-Reference-T;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Variant C atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag GCGTATCGTCCT CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAgcgtatcgtcctAGATCGAGACCCGACGC chr5:137088120-Variant-C;Patient-65 chr5:137088120-TC Inherited Patient-65 3 prime UTR HNRNPA0 NA 0.00016 1.39 15.31 6.06 HNRNPA0 1918 Variant C atgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggag AACGCGCCAAGA CGACGCGGTCTCTCTCTatgcacagaaacttaagagtttaaaaagccacatccaccacttcaaaagtCttgcctgtaagggatataattcaacacgcaactagcagggcaacaggagAGAGGGAGACGGACGTCTCAATAAaacgcgccaagaAGATCGAGACCCGACGC chr5:137088120-Variant-C;Patient-65 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Variant A ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GTAGGTGTCGTC CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAgtaggtgtcgtcAGATCGAGACCCGACGC chr5:137112930-Variant-A;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Variant A ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GATGGAAGACCT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAgatggaagacctAGATCGAGACCCGACGC chr5:137112930-Variant-A;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Variant A ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GGCTCGTCAGAA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAggctcgtcagaaAGATCGAGACCCGACGC chr5:137112930-Variant-A;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative T ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CAACCGGTCCTA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAcaaccggtcctaAGATCGAGACCCGACGC chr5:137112930-Alternative-T;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Reference G ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat AACACTTCCAGT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAaacacttccagtAGATCGAGACCCGACGC chr5:137112930-Reference-G;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative T ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GTGATAACGCTT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAgtgataacgcttAGATCGAGACCCGACGC chr5:137112930-Alternative-T;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Variant A ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat ATAACACGACGA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAataacacgacgaAGATCGAGACCCGACGC chr5:137112930-Variant-A;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Reference G ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat AATCGCTAACCA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAaatcgctaaccaAGATCGAGACCCGACGC chr5:137112930-Reference-G;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative T ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CGGCATACTACA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAcggcatactacaAGATCGAGACCCGACGC chr5:137112930-Alternative-T;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative C ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat AGAGTCCGAATA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAagagtccgaataAGATCGAGACCCGACGC chr5:137112930-Alternative-C;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Reference G ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GCAGTATAGCTT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAgcagtatagcttAGATCGAGACCCGACGC chr5:137112930-Reference-G;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Reference G ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CACGGACTCTAC CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAcacggactctacAGATCGAGACCCGACGC chr5:137112930-Reference-G;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative T ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CTTACTGCTAGA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAActtactgctagaAGATCGAGACCCGACGC chr5:137112930-Alternative-T;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative C ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat AATCTGTGCTGA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAaatctgtgctgaAGATCGAGACCCGACGC chr5:137112930-Alternative-C;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Reference G ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat ATCGTAGACGAA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacGtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAatcgtagacgaaAGATCGAGACCCGACGC chr5:137112930-Reference-G;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Variant A ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat ACTACGTGCCGA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacAtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAactacgtgccgaAGATCGAGACCCGACGC chr5:137112930-Variant-A;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative C ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CGCTGAATGCCT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAcgctgaatgcctAGATCGAGACCCGACGC chr5:137112930-Alternative-C;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative C ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat GGTGTTAGTAGA CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAggtgttagtagaAGATCGAGACCCGACGC chr5:137112930-Alternative-C;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative T ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat ACGAATTGTCGT CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacTtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAAacgaattgtcgtAGATCGAGACCCGACGC chr5:137112930-Alternative-T;Patient-88 chr5:137112930-GA DeNovo Patient-88 intergenic 9.6e-05 0.000513 -0.03 2.16 0.92 HNRNPA0 22890 Alternative C ctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgat CTCATCTAACGG CGACGCGGTCTCTCTCTctgcatttaggcaaggaaaaatggagggaaaatgtgaaaaaggcagctacCtaacctagaaaaaaaggagggtaaaataatagggtagttgggccttgatAGAGGGAGACGGACGTCTCAATAActcatctaacggAGATCGAGACCCGACGC chr5:137112930-Alternative-C;Patient-88 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative C aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc CTGGTAGCGAGA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAActggtagcgagaAGATCGAGACCCGACGC chr5:137782837-Alternative-C;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative C aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc CGTAACACGGAC CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAcgtaacacggacAGATCGAGACCCGACGC chr5:137782837-Alternative-C;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative C aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc CGCTCTCGCAAT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAcgctctcgcaatAGATCGAGACCCGACGC chr5:137782837-Alternative-C;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative C aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc GGCAAGTTGGAC CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAggcaagttggacAGATCGAGACCCGACGC chr5:137782837-Alternative-C;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative C aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc AGCTCGAAGACG CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaCgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAagctcgaagacgAGATCGAGACCCGACGC chr5:137782837-Alternative-C;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Reference A aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc AGTGTCTCCTAT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAagtgtctcctatAGATCGAGACCCGACGC chr5:137782837-Reference-A;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Reference A aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ATCGACACGTCG CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAatcgacacgtcgAGATCGAGACCCGACGC chr5:137782837-Reference-A;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Reference A aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ACTTCTCGGCCA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAacttctcggccaAGATCGAGACCCGACGC chr5:137782837-Reference-A;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Reference A aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ATTCGAAGATGC CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAattcgaagatgcAGATCGAGACCCGACGC chr5:137782837-Reference-A;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Reference A aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc CGTGAAGTCGCA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaAgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAcgtgaagtcgcaAGATCGAGACCCGACGC chr5:137782837-Reference-A;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative T aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc GAAGATATGACC CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAgaagatatgaccAGATCGAGACCCGACGC chr5:137782837-Alternative-T;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative T aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ATACGTAAGCGA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAatacgtaagcgaAGATCGAGACCCGACGC chr5:137782837-Alternative-T;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative T aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc GGCCATATAGTT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAggccatatagttAGATCGAGACCCGACGC chr5:137782837-Alternative-T;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative T aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ACTATACCGCAA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAactataccgcaaAGATCGAGACCCGACGC chr5:137782837-Alternative-T;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Alternative T aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc GGAGTTCGACAG CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaTgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAggagttcgacagAGATCGAGACCCGACGC chr5:137782837-Alternative-T;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Variant G aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc AAGTAGGTGGAA CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAaagtaggtggaaAGATCGAGACCCGACGC chr5:137782837-Variant-G;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Variant G aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc GGACGTGGTTCT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAggacgtggttctAGATCGAGACCCGACGC chr5:137782837-Variant-G;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Variant G aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc CTAGTTATTGCG CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAActagttattgcgAGATCGAGACCCGACGC chr5:137782837-Variant-G;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Variant G aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc ATCGACGCTAAT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAatcgacgctaatAGATCGAGACCCGACGC chr5:137782837-Variant-G;Patient-30 chr5:137782837-AG Inherited Patient-30 intergenic NA 0.00016 NA NA NA EGR1 18343 Variant G aagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatcc AGACCACATAGT CGACGCGGTCTCTCTCTaagagatgggcttgagggggctcagtctgggaaaatggttttgggactcaGgataaaaccagaggcctaggctgggcgcagtggctcatgcctgtaatccAGAGGGAGACGGACGTCTCAATAAagaccacatagtAGATCGAGACCCGACGC chr5:137782837-Variant-G;Patient-30 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative C gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg ATTATTCCGCGT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAattattccgcgtAGATCGAGACCCGACGC chr5:138179375-Alternative-C;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative C gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg ATTCGGCAACGC CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAattcggcaacgcAGATCGAGACCCGACGC chr5:138179375-Alternative-C;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative C gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AGCTATACGAGT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAagctatacgagtAGATCGAGACCCGACGC chr5:138179375-Alternative-C;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Variant G gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GAGTACCACCGA CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgagtaccaccgaAGATCGAGACCCGACGC chr5:138179375-Variant-G;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative T gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AGCACCTCAAGG CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAagcacctcaaggAGATCGAGACCCGACGC chr5:138179375-Alternative-T;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative T gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GTTATGCAGCAT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgttatgcagcatAGATCGAGACCCGACGC chr5:138179375-Alternative-T;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Variant G gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AGACCACATCGG CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAagaccacatcggAGATCGAGACCCGACGC chr5:138179375-Variant-G;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Reference A gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GACCGTGTTCAT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgaccgtgttcatAGATCGAGACCCGACGC chr5:138179375-Reference-A;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Reference A gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg CTAAGTGCGACT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAActaagtgcgactAGATCGAGACCCGACGC chr5:138179375-Reference-A;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative T gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg ATAAGGCGAGCG CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAataaggcgagcgAGATCGAGACCCGACGC chr5:138179375-Alternative-T;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Variant G gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GTGTTCTTAGCT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgtgttcttagctAGATCGAGACCCGACGC chr5:138179375-Variant-G;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative C gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AACGTCGGACGA CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAaacgtcggacgaAGATCGAGACCCGACGC chr5:138179375-Alternative-C;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Variant G gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AACTATCGGAGA CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAaactatcggagaAGATCGAGACCCGACGC chr5:138179375-Variant-G;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Reference A gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GTTGGACCGAGA CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgttggaccgagaAGATCGAGACCCGACGC chr5:138179375-Reference-A;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative T gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg CGAACTTCGAAT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAcgaacttcgaatAGATCGAGACCCGACGC chr5:138179375-Alternative-T;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Variant G gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AGCGGATTGCAG CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgGattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAagcggattgcagAGATCGAGACCCGACGC chr5:138179375-Variant-G;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Reference A gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GTTACCGATTGT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgttaccgattgtAGATCGAGACCCGACGC chr5:138179375-Reference-A;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative C gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GTTAGCCATTCA CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgCattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAgttagccattcaAGATCGAGACCCGACGC chr5:138179375-Alternative-C;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Alternative T gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg GGAGTATTCGTT CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgTattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAggagtattcgttAGATCGAGACCCGACGC chr5:138179375-Alternative-T;Patient-66 chr5:138179375-AG DeNovo Patient-66 intronic CTNNA1 NA 4.95e-05 0.12 4.67 -1.68 CTNNA1 90267 Reference A gggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattg AGTCGCTCTTCG CGACGCGGTCTCTCTCTgggtcataggggtcttgacaaagtgaacttatggctgagtagcagctatgAattagataggcagcaaagagggtgagaatgggtcaggcatttgagattgAGAGGGAGACGGACGTCTCAATAAagtcgctcttcgAGATCGAGACCCGACGC chr5:138179375-Reference-A;Patient-66 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Reference G attacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaa AATGCCGGCTGA CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAaatgccggctgaAGATCGAGACCCGACGC chr5:138563934-Reference-G;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Reference G attacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GATAATGCTACC CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgataatgctaccAGATCGAGACCCGACGC chr5:138563934-Reference-G;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative T attacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaa AATGCGATGTGA CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAaatgcgatgtgaAGATCGAGACCCGACGC chr5:138563934-Alternative-T;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative T attacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaa CTTGGTCGCATC CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAActtggtcgcatcAGATCGAGACCCGACGC chr5:138563934-Alternative-T;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Variant A attacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GCATCGAACGCA CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgcatcgaacgcaAGATCGAGACCCGACGC chr5:138563934-Variant-A;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Variant A attacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaa CGTGTTGCTGAG CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAcgtgttgctgagAGATCGAGACCCGACGC chr5:138563934-Variant-A;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Reference G attacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GGATATAGCGAT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAggatatagcgatAGATCGAGACCCGACGC chr5:138563934-Reference-G;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Variant A attacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GGAACGTATAAC CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAggaacgtataacAGATCGAGACCCGACGC chr5:138563934-Variant-A;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative T attacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaa AACACCGCCAAT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAaacaccgccaatAGATCGAGACCCGACGC chr5:138563934-Alternative-T;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative T attacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaa ACGCACCGTAGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAacgcaccgtagtAGATCGAGACCCGACGC chr5:138563934-Alternative-T;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Reference G attacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaa AATGTTGCGTTC CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAaatgttgcgttcAGATCGAGACCCGACGC chr5:138563934-Reference-G;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative T attacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GGCCGATCAAGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaTgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAggccgatcaagtAGATCGAGACCCGACGC chr5:138563934-Alternative-T;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Variant A attacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaa CTACGTCCTGGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAActacgtcctggtAGATCGAGACCCGACGC chr5:138563934-Variant-A;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative C attacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaa ACGCGAGTACGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAacgcgagtacgtAGATCGAGACCCGACGC chr5:138563934-Alternative-C;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Variant A attacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GTAGGTCGTGCT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaAgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgtaggtcgtgctAGATCGAGACCCGACGC chr5:138563934-Variant-A;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Reference G attacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GTTCAACGCTTC CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaGgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgttcaacgcttcAGATCGAGACCCGACGC chr5:138563934-Reference-G;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative C attacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaa CGTACATGTCGG CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAcgtacatgtcggAGATCGAGACCCGACGC chr5:138563934-Alternative-C;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative C attacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaa AGGTTGACGCGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAaggttgacgcgtAGATCGAGACCCGACGC chr5:138563934-Alternative-C;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative C attacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GCGTACTGATGG CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgcgtactgatggAGATCGAGACCCGACGC chr5:138563934-Alternative-C;Patient-100 chr5:138563934-GA DeNovo Patient-100 intergenic NA 3.91e-05 0.24 6.42 1.74 SIL1 29868 Alternative C attacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaa GCGATACATGGT CGACGCGGTCTCTCTCTattacagggataaaagacaaaattcttgccctctggaagctcccagcctaCgagacaagactgggccaagactaggataagtaaagcacccagggcacaaAGAGGGAGACGGACGTCTCAATAAgcgatacatggtAGATCGAGACCCGACGC chr5:138563934-Alternative-C;Patient-100 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative T ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CGACGCTAATCA CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAcgacgctaatcaAGATCGAGACCCGACGC chr5:138884368-Alternative-T;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Reference G ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CTAATGATGCAC CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAActaatgatgcacAGATCGAGACCCGACGC chr5:138884368-Reference-G;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative T ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc AAGGCGAGTGAT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAaaggcgagtgatAGATCGAGACCCGACGC chr5:138884368-Alternative-T;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Reference G ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CATTGATCCGCA CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAcattgatccgcaAGATCGAGACCCGACGC chr5:138884368-Reference-G;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative T ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GATGATCGTGTT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgatgatcgtgttAGATCGAGACCCGACGC chr5:138884368-Alternative-T;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Reference G ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GGATCGTAGTGG CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAggatcgtagtggAGATCGAGACCCGACGC chr5:138884368-Reference-G;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Reference G ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GTTGTACGCTAA CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgttgtacgctaaAGATCGAGACCCGACGC chr5:138884368-Reference-G;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative T ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GAGATAGTCTGT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgagatagtctgtAGATCGAGACCCGACGC chr5:138884368-Alternative-T;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Reference G ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CATAATCCGGTT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacGgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAcataatccggttAGATCGAGACCCGACGC chr5:138884368-Reference-G;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Variant A ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GTCGTATTGTGA CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgtcgtattgtgaAGATCGAGACCCGACGC chr5:138884368-Variant-A;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Variant A ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc ATCGGCTTACGG CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAatcggcttacggAGATCGAGACCCGACGC chr5:138884368-Variant-A;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative C ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CGTGGTGGATGA CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAcgtggtggatgaAGATCGAGACCCGACGC chr5:138884368-Alternative-C;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Variant A ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc ACCAATGATGCT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAaccaatgatgctAGATCGAGACCCGACGC chr5:138884368-Variant-A;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative C ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc AACGAAGATTCG CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAaacgaagattcgAGATCGAGACCCGACGC chr5:138884368-Alternative-C;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Variant A ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc ATCTGCGACATC CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAatctgcgacatcAGATCGAGACCCGACGC chr5:138884368-Variant-A;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Variant A ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GATACCGTGATT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacAgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgataccgtgattAGATCGAGACCCGACGC chr5:138884368-Variant-A;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative C ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GGATGGTTACGG CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAggatggttacggAGATCGAGACCCGACGC chr5:138884368-Alternative-C;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative C ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc GACGATGCTATT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAgacgatgctattAGATCGAGACCCGACGC chr5:138884368-Alternative-C;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative C ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc ACCTATAATCGC CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacCgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAAacctataatcgcAGATCGAGACCCGACGC chr5:138884368-Alternative-C;Patient-68 chr5:138884368-GA Inherited Patient-68 intergenic 0.000223 0.001538462 -0.12 1.19 0 UBE2D2 56382 Alternative T ctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttc CTCAACGGCGAT CGACGCGGTCTCTCTCTctaaatccgatttttcttggtcctctttgtggtctaggaggacaggcaacTgtgcaggttttcaagaatgcattggtaagggccactaaatccgaccttcAGAGGGAGACGGACGTCTCAATAActcaacggcgatAGATCGAGACCCGACGC chr5:138884368-Alternative-T;Patient-68 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative T tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GGTGTCGCTACA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAggtgtcgctacaAGATCGAGACCCGACGC chr5:13959595-Alternative-T;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative T tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag AGCGCCACTTGA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAagcgccacttgaAGATCGAGACCCGACGC chr5:13959595-Alternative-T;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative T tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GTTCAAGGTTCA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgttcaaggttcaAGATCGAGACCCGACGC chr5:13959595-Alternative-T;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Reference A tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CAGCGAGTAATA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAcagcgagtaataAGATCGAGACCCGACGC chr5:13959595-Reference-A;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative T tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GACTAGAAGCAT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgactagaagcatAGATCGAGACCCGACGC chr5:13959595-Alternative-T;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative T tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag AGTTGTGAGGCG CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacTtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAagttgtgaggcgAGATCGAGACCCGACGC chr5:13959595-Alternative-T;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Reference A tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GATAGCTAAGCA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgatagctaagcaAGATCGAGACCCGACGC chr5:13959595-Reference-A;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Reference A tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GACGATCACACT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgacgatcacactAGATCGAGACCCGACGC chr5:13959595-Reference-A;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Reference A tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CGCCACGATTCT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAcgccacgattctAGATCGAGACCCGACGC chr5:13959595-Reference-A;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Reference A tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GTTGAGTTGTGT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacAtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgttgagttgtgtAGATCGAGACCCGACGC chr5:13959595-Reference-A;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative G tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CGTCGCTTGGTT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAcgtcgcttggttAGATCGAGACCCGACGC chr5:13959595-Alternative-G;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Variant C tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GGCAATAGATGT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAggcaatagatgtAGATCGAGACCCGACGC chr5:13959595-Variant-C;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative G tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CGTTGCCGATGT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAcgttgccgatgtAGATCGAGACCCGACGC chr5:13959595-Alternative-G;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Variant C tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag AGGTTCCGAACC CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAaggttccgaaccAGATCGAGACCCGACGC chr5:13959595-Variant-C;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative G tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GGTTATGCATGT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAggttatgcatgtAGATCGAGACCCGACGC chr5:13959595-Alternative-G;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Variant C tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag GCGTACTCTCGA CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAgcgtactctcgaAGATCGAGACCCGACGC chr5:13959595-Variant-C;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative G tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag AGCTTGTCTGTT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAagcttgtctgttAGATCGAGACCCGACGC chr5:13959595-Alternative-G;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Variant C tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CATCCATTGACT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAAcatccattgactAGATCGAGACCCGACGC chr5:13959595-Variant-C;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Variant C tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CTCTGACGTTCG CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacCtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAActctgacgttcgAGATCGAGACCCGACGC chr5:13959595-Variant-C;Patient-82 chr5:13959595-AC DeNovo Patient-82 intergenic NA 0.000513 -0.36 0.24 -4.04 DNAH5 15005 Alternative G tcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccag CTTAGAGGCATT CGACGCGGTCTCTCTCTtcatcaggccaacttggccaaaccagccccaagtcagaaccaggcttcacGtcttcatgccatgagtgcaggtcccttttcggaccagcccagcgcccagAGAGGGAGACGGACGTCTCAATAActtagaggcattAGATCGAGACCCGACGC chr5:13959595-Alternative-G;Patient-82 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Reference G actccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GTAACGTCCGAC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgtaacgtccgacAGATCGAGACCCGACGC chr5:139702559-Reference-G;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative A actccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GTCGTACTACGG CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgtcgtactacggAGATCGAGACCCGACGC chr5:139702559-Alternative-A;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative C actccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GTTCGTGTCTAT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgttcgtgtctatAGATCGAGACCCGACGC chr5:139702559-Alternative-C;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Variant T actccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GACGCTCAACGT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgacgctcaacgtAGATCGAGACCCGACGC chr5:139702559-Variant-T;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Variant T actccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GTCGACGCTCTT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgtcgacgctcttAGATCGAGACCCGACGC chr5:139702559-Variant-T;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative C actccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata ATCCGCAAGATT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAatccgcaagattAGATCGAGACCCGACGC chr5:139702559-Alternative-C;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative A actccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CTGGCACTTGCT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAActggcacttgctAGATCGAGACCCGACGC chr5:139702559-Alternative-A;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Reference G actccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GTAATCTGGCTT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgtaatctggcttAGATCGAGACCCGACGC chr5:139702559-Reference-G;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Reference G actccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CAGCTACCGATA CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAcagctaccgataAGATCGAGACCCGACGC chr5:139702559-Reference-G;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Variant T actccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CTAATCGCGATA CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAActaatcgcgataAGATCGAGACCCGACGC chr5:139702559-Variant-T;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Reference G actccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata AACGTGGAACTA CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAaacgtggaactaAGATCGAGACCCGACGC chr5:139702559-Reference-G;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Variant T actccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CAACTGGTTCGC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAcaactggttcgcAGATCGAGACCCGACGC chr5:139702559-Variant-T;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Variant T actccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GCAGTATCCGAC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgTgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgcagtatccgacAGATCGAGACCCGACGC chr5:139702559-Variant-T;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Reference G actccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GATGCACATGGT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgGgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgatgcacatggtAGATCGAGACCCGACGC chr5:139702559-Reference-G;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative A actccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CAATTATCCGGT CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAcaattatccggtAGATCGAGACCCGACGC chr5:139702559-Alternative-A;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative A actccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata CGCGTAGAGTAC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAcgcgtagagtacAGATCGAGACCCGACGC chr5:139702559-Alternative-A;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative A actccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GGACTTCATCAA CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgAgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAggacttcatcaaAGATCGAGACCCGACGC chr5:139702559-Alternative-A;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative C actccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata GCATGAGTAACC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAgcatgagtaaccAGATCGAGACCCGACGC chr5:139702559-Alternative-C;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative C actccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata AGCTCAATAGTC CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAagctcaatagtcAGATCGAGACCCGACGC chr5:139702559-Alternative-C;Patient-87 chr5:139702559-GT Inherited Patient-87 intergenic NA 0.000512821 1.65 16.5 1.85 PFDN1 19869 Alternative C actccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcata ACTTACACGCAA CGACGCGGTCTCTCTCTactccagcttggggggttgggggaacacaagccccaggaggagggaggcgCgtggtggggaggttagcagtcacattcctcagcagcctctgttttcataAGAGGGAGACGGACGTCTCAATAAacttacacgcaaAGATCGAGACCCGACGC chr5:139702559-Alternative-C;Patient-87 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative C atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac AGGACGTGAACA CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAaggacgtgaacaAGATCGAGACCCGACGC chr5:13985475-Alternative-C;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Variant A atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GACCTACAGCGT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAgacctacagcgtAGATCGAGACCCGACGC chr5:13985475-Variant-A;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Reference G atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac AACACCTAAGCA CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAaacacctaagcaAGATCGAGACCCGACGC chr5:13985475-Reference-G;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Reference G atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GCAGCTACGGTT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAgcagctacggttAGATCGAGACCCGACGC chr5:13985475-Reference-G;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative C atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac AGACCGATGCCT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAagaccgatgcctAGATCGAGACCCGACGC chr5:13985475-Alternative-C;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Variant A atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac ACCTAGCACGAG CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAacctagcacgagAGATCGAGACCCGACGC chr5:13985475-Variant-A;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Reference G atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac ACGTGCTCGAAT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAacgtgctcgaatAGATCGAGACCCGACGC chr5:13985475-Reference-G;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative C atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac ATTGTCATGTGG CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAattgtcatgtggAGATCGAGACCCGACGC chr5:13985475-Alternative-C;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Variant A atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac CGCCGAACTGTT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAcgccgaactgttAGATCGAGACCCGACGC chr5:13985475-Variant-A;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Reference G atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac CGGAAGCGTAGT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAcggaagcgtagtAGATCGAGACCCGACGC chr5:13985475-Reference-G;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative C atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac AGAACGGATCGA CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAagaacggatcgaAGATCGAGACCCGACGC chr5:13985475-Alternative-C;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative C atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac CTATGCGCTCGT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatCtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAActatgcgctcgtAGATCGAGACCCGACGC chr5:13985475-Alternative-C;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative T atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac ATCGAACCGACT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAatcgaaccgactAGATCGAGACCCGACGC chr5:13985475-Alternative-T;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative T atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GTAGGAGGTAGG CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAgtaggaggtaggAGATCGAGACCCGACGC chr5:13985475-Alternative-T;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Variant A atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac AGATTCGATAGG CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAagattcgataggAGATCGAGACCCGACGC chr5:13985475-Variant-A;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative T atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GTGCTACACGAC CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAgtgctacacgacAGATCGAGACCCGACGC chr5:13985475-Alternative-T;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Variant A atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac CTAGCGCGTACT CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatAtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAActagcgcgtactAGATCGAGACCCGACGC chr5:13985475-Variant-A;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative T atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GTAAGCGTTGCG CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAgtaagcgttgcgAGATCGAGACCCGACGC chr5:13985475-Alternative-T;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Alternative T atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GGTCAATGTTCA CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatTtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAggtcaatgttcaAGATCGAGACCCGACGC chr5:13985475-Alternative-T;Patient-101 chr5:13985475-GA DeNovo Patient-101 intergenic NA 0.000512821 -0.55 0.06 -0.09 DNAH5 40885 Reference G atacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaac GGACTTCGGAGA CGACGCGGTCTCTCTCTatacctaatgtaaatgacgagttaatgggtgcagcacaccaacatggcatGtgtatacatatgtaaaaaacctgcacgttgtgcacatgtaccctagaacAGAGGGAGACGGACGTCTCAATAAggacttcggagaAGATCGAGACCCGACGC chr5:13985475-Reference-G;Patient-101 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Reference G accacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc AGCTCGCCTATT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAagctcgcctattAGATCGAGACCCGACGC chr5:140103659-Reference-G;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Reference G accacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc AGCAGGATATCA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAagcaggatatcaAGATCGAGACCCGACGC chr5:140103659-Reference-G;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Reference G accacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CTGTGTCGTACC CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAActgtgtcgtaccAGATCGAGACCCGACGC chr5:140103659-Reference-G;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative T accacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CTAGACGACCAC CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAActagacgaccacAGATCGAGACCCGACGC chr5:140103659-Alternative-T;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Reference G accacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CTATCCAACGGC CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAActatccaacggcAGATCGAGACCCGACGC chr5:140103659-Reference-G;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Reference G accacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CGCATAATTCGT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgGggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAcgcataattcgtAGATCGAGACCCGACGC chr5:140103659-Reference-G;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative A accacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CTTGACGGTGCA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAActtgacggtgcaAGATCGAGACCCGACGC chr5:140103659-Alternative-A;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative A accacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc AGCGTAACTTGT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAagcgtaacttgtAGATCGAGACCCGACGC chr5:140103659-Alternative-A;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative A accacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc ACGAGCTACTAT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAacgagctactatAGATCGAGACCCGACGC chr5:140103659-Alternative-A;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative T accacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc ATCTGTGCCGGT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAatctgtgccggtAGATCGAGACCCGACGC chr5:140103659-Alternative-T;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative T accacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc ATCGCTGACTAA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAatcgctgactaaAGATCGAGACCCGACGC chr5:140103659-Alternative-T;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative A accacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc ACGATTAAGACG CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAacgattaagacgAGATCGAGACCCGACGC chr5:140103659-Alternative-A;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative T accacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc GGAATGACCAAG CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAggaatgaccaagAGATCGAGACCCGACGC chr5:140103659-Alternative-T;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative T accacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc CGTCGCGGATTA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgTggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAcgtcgcggattaAGATCGAGACCCGACGC chr5:140103659-Alternative-T;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Alternative A accacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc AGCGTTGGTAGG CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgAggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAagcgttggtaggAGATCGAGACCCGACGC chr5:140103659-Alternative-A;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Variant C accacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc GACTGTGGACGA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAgactgtggacgaAGATCGAGACCCGACGC chr5:140103659-Variant-C;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Variant C accacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc GGTGGTCTAGCT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAggtggtctagctAGATCGAGACCCGACGC chr5:140103659-Variant-C;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Variant C accacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc ATTACCGAACCT CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAattaccgaacctAGATCGAGACCCGACGC chr5:140103659-Variant-C;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Variant C accacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc GACGAGTATCCA CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAgacgagtatccaAGATCGAGACCCGACGC chr5:140103659-Variant-C;Patient-26 chr5:140103659-GC DeNovo Patient-26 intergenic NA 0.000513 -0.24 0.56 0 HARS 32346 Variant C accacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatc GATGTCGAGGAC CGACGCGGTCTCTCTCTaccacatccggctaatttttttttttttttttttttttttagtagagatgCggtttcaccgtgttagccaggatattctcgatctcctgacctcgtgatcAGAGGGAGACGGACGTCTCAATAAgatgtcgaggacAGATCGAGACCCGACGC chr5:140103659-Variant-C;Patient-26 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative G tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CTGTCAAGTGAT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAActgtcaagtgatAGATCGAGACCCGACGC chr5:141056927-Alternative-G;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Reference T tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CGCGTTGTTCGA CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAcgcgttgttcgaAGATCGAGACCCGACGC chr5:141056927-Reference-T;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative G tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct ACGCCGGATAAC CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAacgccggataacAGATCGAGACCCGACGC chr5:141056927-Alternative-G;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative G tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct ATAGGCGCAACG CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAataggcgcaacgAGATCGAGACCCGACGC chr5:141056927-Alternative-G;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative G tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CGTAAGTCATAC CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAcgtaagtcatacAGATCGAGACCCGACGC chr5:141056927-Alternative-G;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative G tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CTAGATTACCGG CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaGctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAActagattaccggAGATCGAGACCCGACGC chr5:141056927-Alternative-G;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Reference T tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CTAGTCGTCATT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAActagtcgtcattAGATCGAGACCCGACGC chr5:141056927-Reference-T;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Reference T tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct AGACTAATCGGT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAagactaatcggtAGATCGAGACCCGACGC chr5:141056927-Reference-T;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Reference T tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CGTAGCAGTAGG CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAcgtagcagtaggAGATCGAGACCCGACGC chr5:141056927-Reference-T;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative A tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggct AGCGCAACCAAT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAagcgcaaccaatAGATCGAGACCCGACGC chr5:141056927-Alternative-A;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Reference T tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct ACGAGGACGAAC CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaTctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAacgaggacgaacAGATCGAGACCCGACGC chr5:141056927-Reference-T;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative A tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggct GCCGTAGCCAAT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAgccgtagccaatAGATCGAGACCCGACGC chr5:141056927-Alternative-A;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Variant C tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct AGCTACCGGCTA CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAagctaccggctaAGATCGAGACCCGACGC chr5:141056927-Variant-C;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative A tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggct CGGAGCTTATGG CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAcggagcttatggAGATCGAGACCCGACGC chr5:141056927-Alternative-A;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Variant C tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct GGTAACTACGGC CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAggtaactacggcAGATCGAGACCCGACGC chr5:141056927-Variant-C;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative A tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggct AATGCAATGTGG CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAaatgcaatgtggAGATCGAGACCCGACGC chr5:141056927-Alternative-A;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Variant C tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct GTAGCGCGATGT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAgtagcgcgatgtAGATCGAGACCCGACGC chr5:141056927-Variant-C;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Alternative A tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggct GCCTGACTTATT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaActcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAgcctgacttattAGATCGAGACCCGACGC chr5:141056927-Alternative-A;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Variant C tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct GCGGATATATGT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAgcggatatatgtAGATCGAGACCCGACGC chr5:141056927-Variant-C;Patient-99 chr5:141056927-TC DeNovo Patient-99 intronic ARAP3 NA 4.95e-05 0.18 5.62 -2.3 ARAP3 4872 Variant C tctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggct AGTAGAGCGATT CGACGCGGTCTCTCTCTtctcatattaagtctttgaaatctagcaggtgttttacatttattgtgcaCctcaaaggatactagccgcatttcataggcccagtagtcacatgtggctAGAGGGAGACGGACGTCTCAATAAagtagagcgattAGATCGAGACCCGACGC chr5:141056927-Variant-C;Patient-99 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Variant G aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CGTTCAAGAATC CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcgttcaagaatcAGATCGAGACCCGACGC chr5:141671980-Variant-G;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative A aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GACTGCGATAAT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgactgcgataatAGATCGAGACCCGACGC chr5:141671980-Alternative-A;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Variant G aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GATGTGTTCCAA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgatgtgttccaaAGATCGAGACCCGACGC chr5:141671980-Variant-G;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Variant G aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CGTAACCGAGGT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcgtaaccgaggtAGATCGAGACCCGACGC chr5:141671980-Variant-G;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Variant G aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GATGGAGGCTGT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgatggaggctgtAGATCGAGACCCGACGC chr5:141671980-Variant-G;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative C aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct AATAGACGATGC CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAaatagacgatgcAGATCGAGACCCGACGC chr5:141671980-Alternative-C;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative A aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CAGGATAGCAAG CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcaggatagcaagAGATCGAGACCCGACGC chr5:141671980-Alternative-A;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative A aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CGCTAGCTTGCA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcgctagcttgcaAGATCGAGACCCGACGC chr5:141671980-Alternative-A;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Reference T aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct AGGCTTACATCA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAaggcttacatcaAGATCGAGACCCGACGC chr5:141671980-Reference-T;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Reference T aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GATCGAAGCATC CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgatcgaagcatcAGATCGAGACCCGACGC chr5:141671980-Reference-T;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Reference T aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GACGACGTGTGA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgacgacgtgtgaAGATCGAGACCCGACGC chr5:141671980-Reference-T;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative C aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CTGTCTTGGTCG CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAActgtcttggtcgAGATCGAGACCCGACGC chr5:141671980-Alternative-C;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative A aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CGGACAAGGAGT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcggacaaggagtAGATCGAGACCCGACGC chr5:141671980-Alternative-A;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative C aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CTAGTACGAGAA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAActagtacgagaaAGATCGAGACCCGACGC chr5:141671980-Alternative-C;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Variant G aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GCGCTAACATCG CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaGaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgcgctaacatcgAGATCGAGACCCGACGC chr5:141671980-Variant-G;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative A aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CATTGCCTCGGT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaAaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcattgcctcggtAGATCGAGACCCGACGC chr5:141671980-Alternative-A;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative C aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CACTAGATAGCG CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAcactagatagcgAGATCGAGACCCGACGC chr5:141671980-Alternative-C;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Reference T aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct GAGTCAATTCCA CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAgagtcaattccaAGATCGAGACCCGACGC chr5:141671980-Reference-T;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Reference T aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct CTAGCTACTCGG CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaTaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAActagctactcggAGATCGAGACCCGACGC chr5:141671980-Reference-T;Patient-27 chr5:141671980-TG DeNovo Patient-27 intergenic NA 0.000513 -0.06 1.81 0.32 SPRY4 32639 Alternative C aaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctct ATAATGGACGGT CGACGCGGTCTCTCTCTaaagatgaccgagttgaccttgaaggtcaagtacatcaagtaggaatgaaCaggaggcaggggattccaggcagagggagcagcatgtggaagtttctctAGAGGGAGACGGACGTCTCAATAAataatggacggtAGATCGAGACCCGACGC chr5:141671980-Alternative-C;Patient-27 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Variant G tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GCGGAGCATGAA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgcggagcatgaaAGATCGAGACCCGACGC chr5:141730147-Variant-G;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative T tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt ACTTGTCTCGAT CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAacttgtctcgatAGATCGAGACCCGACGC chr5:141730147-Alternative-T;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Reference A tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CTGAACATGAGA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAActgaacatgagaAGATCGAGACCCGACGC chr5:141730147-Reference-A;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Reference A tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GCATTCGAGTCG CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgcattcgagtcgAGATCGAGACCCGACGC chr5:141730147-Reference-A;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative T tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GGATCACGAACG CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAggatcacgaacgAGATCGAGACCCGACGC chr5:141730147-Alternative-T;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative T tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CACGCGAATAAG CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAcacgcgaataagAGATCGAGACCCGACGC chr5:141730147-Alternative-T;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative C tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CGTATATGTGGT CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAcgtatatgtggtAGATCGAGACCCGACGC chr5:141730147-Alternative-C;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative T tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CGTGTTAGACTA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAcgtgttagactaAGATCGAGACCCGACGC chr5:141730147-Alternative-T;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Reference A tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CTTGAGCAACGA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAActtgagcaacgaAGATCGAGACCCGACGC chr5:141730147-Reference-A;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Variant G tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt ATCATAGCGAGA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAatcatagcgagaAGATCGAGACCCGACGC chr5:141730147-Variant-G;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Reference A tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt AATCTCGACGGC CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAaatctcgacggcAGATCGAGACCCGACGC chr5:141730147-Reference-A;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative C tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt ATCGGATAGCAA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAatcggatagcaaAGATCGAGACCCGACGC chr5:141730147-Alternative-C;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Variant G tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CGGATGATAAGT CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAcggatgataagtAGATCGAGACCCGACGC chr5:141730147-Variant-G;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative T tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt AGAAGTGAGACA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcTagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAagaagtgagacaAGATCGAGACCCGACGC chr5:141730147-Alternative-T;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Variant G tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GCAGTAACGACG CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgcagtaacgacgAGATCGAGACCCGACGC chr5:141730147-Variant-G;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Reference A tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GATAAGGCCGCT CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcAagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgataaggccgctAGATCGAGACCCGACGC chr5:141730147-Reference-A;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Variant G tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt AACGTCGCAGTC CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcGagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAaacgtcgcagtcAGATCGAGACCCGACGC chr5:141730147-Variant-G;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative C tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GTATACGCTCGG CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgtatacgctcggAGATCGAGACCCGACGC chr5:141730147-Alternative-C;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative C tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt GCGTTACTCGTC CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAgcgttactcgtcAGATCGAGACCCGACGC chr5:141730147-Alternative-C;Patient-87 chr5:141730147-AG Inherited Patient-87 intergenic 0.000129 0.000513 0.03 3.13 0.32 SPRY4 25526 Alternative C tcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgt CGCCAATAACTA CGACGCGGTCTCTCTCTtcgctctgtcacccaggctggagtgcagtggtgtgatctgggctcactgcCagctccgcctcccggattcacgccattctcctgcctcagcctccagcgtAGAGGGAGACGGACGTCTCAATAAcgccaataactaAGATCGAGACCCGACGC chr5:141730147-Alternative-C;Patient-87 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Reference A ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa AACACCGAACGA CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAaacaccgaacgaAGATCGAGACCCGACGC chr5:142792474-Reference-A;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Reference A ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GTGACTAAGTCT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAgtgactaagtctAGATCGAGACCCGACGC chr5:142792474-Reference-A;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative T ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa AGAACGTAACAG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAagaacgtaacagAGATCGAGACCCGACGC chr5:142792474-Alternative-T;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Variant G ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CTCGGTGTAACG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAActcggtgtaacgAGATCGAGACCCGACGC chr5:142792474-Variant-G;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative T ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa AGAGCAGCACCA CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAagagcagcaccaAGATCGAGACCCGACGC chr5:142792474-Alternative-T;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Variant G ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CGATTGCACAAT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcgattgcacaatAGATCGAGACCCGACGC chr5:142792474-Variant-G;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative T ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GTACTAACTGGT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAgtactaactggtAGATCGAGACCCGACGC chr5:142792474-Alternative-T;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Variant G ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CGAATAACTGAG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcgaataactgagAGATCGAGACCCGACGC chr5:142792474-Variant-G;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Reference A ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CTAATATCGGCA CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAActaatatcggcaAGATCGAGACCCGACGC chr5:142792474-Reference-A;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Reference A ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa ATCGTTGATGGT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAatcgttgatggtAGATCGAGACCCGACGC chr5:142792474-Reference-A;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Variant G ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CGGAACGTAACG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcggaacgtaacgAGATCGAGACCCGACGC chr5:142792474-Variant-G;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative T ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GGATGTTGAACT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAggatgttgaactAGATCGAGACCCGACGC chr5:142792474-Alternative-T;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Variant G ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GTCATACTTAGG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattGgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAgtcatacttaggAGATCGAGACCCGACGC chr5:142792474-Variant-G;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative C ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CAGTTGTGGTAA CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcagttgtggtaaAGATCGAGACCCGACGC chr5:142792474-Alternative-C;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Reference A ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GACCTATGAGTT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattAgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAgacctatgagttAGATCGAGACCCGACGC chr5:142792474-Reference-A;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative C ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CATATGGACGTT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcatatggacgttAGATCGAGACCCGACGC chr5:142792474-Alternative-C;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative T ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa GATGTTGCTCGG CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattTgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAgatgttgctcggAGATCGAGACCCGACGC chr5:142792474-Alternative-T;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative C ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa AGGTGGTGTGGT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAaggtggtgtggtAGATCGAGACCCGACGC chr5:142792474-Alternative-C;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative C ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CGGTGCGTCTAT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcggtgcgtctatAGATCGAGACCCGACGC chr5:142792474-Alternative-C;Patient-82 chr5:142792474-AG DeNovo Patient-82 intronic NR3C1 0.000127 9.9e-05 0.66 10.75 1.09 NR3C1 22602 Alternative C ctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaa CGCATTACAAGT CGACGCGGTCTCTCTCTctttgaggattcagtttggatatgttgtttactttggtcttctgatgattCgctattttaggcatggtttcaatcaatcagggaatgtttattaatagaaAGAGGGAGACGGACGTCTCAATAAcgcattacaagtAGATCGAGACCCGACGC chr5:142792474-Alternative-C;Patient-82 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative C gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GGATATTCGTGT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAggatattcgtgtAGATCGAGACCCGACGC chr5:142897247-Alternative-C;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative C gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GAATGTAAGCGT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgaatgtaagcgtAGATCGAGACCCGACGC chr5:142897247-Alternative-C;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative C gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GGAACGTAACTT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAggaacgtaacttAGATCGAGACCCGACGC chr5:142897247-Alternative-C;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative C gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GTCGTAGTAACT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgtcgtagtaactAGATCGAGACCCGACGC chr5:142897247-Alternative-C;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative C gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CGACTTGATTGA CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaCttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAcgacttgattgaAGATCGAGACCCGACGC chr5:142897247-Alternative-C;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Reference A gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta ACCGGAGTGGAT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAaccggagtggatAGATCGAGACCCGACGC chr5:142897247-Reference-A;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Reference A gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CTAACGTCTAAG CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAActaacgtctaagAGATCGAGACCCGACGC chr5:142897247-Reference-A;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Reference A gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GCGAATCTTAAG CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgcgaatcttaagAGATCGAGACCCGACGC chr5:142897247-Reference-A;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Variant T gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GGCCGGTAAGAA CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAggccggtaagaaAGATCGAGACCCGACGC chr5:142897247-Variant-T;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Variant T gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta AACAGCGCCTAT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAaacagcgcctatAGATCGAGACCCGACGC chr5:142897247-Variant-T;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Reference A gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GCATGGTACCGT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgcatggtaccgtAGATCGAGACCCGACGC chr5:142897247-Reference-A;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Variant T gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta ACGCAATCAGCT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAacgcaatcagctAGATCGAGACCCGACGC chr5:142897247-Variant-T;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Variant T gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GTTACGTGAGAA CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgttacgtgagaaAGATCGAGACCCGACGC chr5:142897247-Variant-T;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Reference A gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta AGTTGGCGAACC CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaAttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAagttggcgaaccAGATCGAGACCCGACGC chr5:142897247-Reference-A;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative G gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CGATTAGGCTAA CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAcgattaggctaaAGATCGAGACCCGACGC chr5:142897247-Alternative-G;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Variant T gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CATATTAACCGC CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaTttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAcatattaaccgcAGATCGAGACCCGACGC chr5:142897247-Variant-T;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative G gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CAGACTAGTTGT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAcagactagttgtAGATCGAGACCCGACGC chr5:142897247-Alternative-G;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative G gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta CGACAACTAGAA CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAcgacaactagaaAGATCGAGACCCGACGC chr5:142897247-Alternative-G;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative G gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GACGCAGAATCG CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgacgcagaatcgAGATCGAGACCCGACGC chr5:142897247-Alternative-G;Patient-22 chr5:142897247-AT DeNovo Patient-22 intergenic 0.000988 0.000513 -0.77 0.01 -0.45 NR3C1 82169 Alternative G gcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgtta GTCTACGACGGT CGACGCGGTCTCTCTCTgcggaaaatgtctttgttttgccttcattgacatttattttattaaaaaaGttttttttaacttttaatttaggttcggggtacatgtgtgcgtttgttaAGAGGGAGACGGACGTCTCAATAAgtctacgacggtAGATCGAGACCCGACGC chr5:142897247-Alternative-G;Patient-22 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Variant G cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CGCTAGACAGTT CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcgctagacagttAGATCGAGACCCGACGC chr5:145724870-Variant-G;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative T cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CGGAACAGCTGT CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcggaacagctgtAGATCGAGACCCGACGC chr5:145724870-Alternative-T;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative A cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CAGATGCCTATC CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcagatgcctatcAGATCGAGACCCGACGC chr5:145724870-Alternative-A;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative A cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca AGCCAAGCAGCA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAagccaagcagcaAGATCGAGACCCGACGC chr5:145724870-Alternative-A;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Reference C cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca AGTATTCTGCGA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAagtattctgcgaAGATCGAGACCCGACGC chr5:145724870-Reference-C;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Variant G cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca GGAGGACCTAAT CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAggaggacctaatAGATCGAGACCCGACGC chr5:145724870-Variant-G;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative T cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca GGCTTAGTATAC CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAggcttagtatacAGATCGAGACCCGACGC chr5:145724870-Alternative-T;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative T cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca ATCGTCTAAGCA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAatcgtctaagcaAGATCGAGACCCGACGC chr5:145724870-Alternative-T;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative A cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CTAATGAGTAGG CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAActaatgagtaggAGATCGAGACCCGACGC chr5:145724870-Alternative-A;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Variant G cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CACGTCGGAGAA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcacgtcggagaaAGATCGAGACCCGACGC chr5:145724870-Variant-G;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative T cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca GGAGATAGCTTA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAggagatagcttaAGATCGAGACCCGACGC chr5:145724870-Alternative-T;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative T cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CAGCAACTAACG CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacTcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcagcaactaacgAGATCGAGACCCGACGC chr5:145724870-Alternative-T;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative A cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CGGTCGATAATA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcggtcgataataAGATCGAGACCCGACGC chr5:145724870-Alternative-A;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Reference C cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CAGACGAAGTAT CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAcagacgaagtatAGATCGAGACCCGACGC chr5:145724870-Reference-C;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Reference C cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca CTTATCCTGCAA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAActtatcctgcaaAGATCGAGACCCGACGC chr5:145724870-Reference-C;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Variant G cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca GTCGTTCGCATC CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAgtcgttcgcatcAGATCGAGACCCGACGC chr5:145724870-Variant-G;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Variant G cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca AGTTGGCCGCTA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacGcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAagttggccgctaAGATCGAGACCCGACGC chr5:145724870-Variant-G;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Reference C cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca GGTTCGATAGCA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAggttcgatagcaAGATCGAGACCCGACGC chr5:145724870-Reference-C;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Reference C cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca ATATTACCGCCA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacCcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAatattaccgccaAGATCGAGACCCGACGC chr5:145724870-Reference-C;Patient-15 chr5:145724870-CG DeNovo Patient-15 intergenic NA 3.92e-05 0.18 5.55 -0.64 POU4F3 6282 Alternative A cgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaaca AGGACCGAATTA CGACGCGGTCTCTCTCTcgcccgttttatttctttcctagtctttaagactgcctgatagcacctacAcagttcacccctgcctccctgaactcaacgcagggcctcgcacagaacaAGAGGGAGACGGACGTCTCAATAAaggaccgaattaAGATCGAGACCCGACGC chr5:145724870-Alternative-A;Patient-15 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Reference G tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGTGAAGGATGC CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcgtgaaggatgcAGATCGAGACCCGACGC chr5:145745146-Reference-G;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative C tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg ACGTACGAACGG CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAacgtacgaacggAGATCGAGACCCGACGC chr5:145745146-Alternative-C;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative T tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CTGGTGACGAGA CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAActggtgacgagaAGATCGAGACCCGACGC chr5:145745146-Alternative-T;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Reference G tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CAACGACTTGAT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcaacgacttgatAGATCGAGACCCGACGC chr5:145745146-Reference-G;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Reference G tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CTCAACGTAAGT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAActcaacgtaagtAGATCGAGACCCGACGC chr5:145745146-Reference-G;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Reference G tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg AAGTGATAGCGG CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAaagtgatagcggAGATCGAGACCCGACGC chr5:145745146-Reference-G;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative C tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg GTGCCGAATCGT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAgtgccgaatcgtAGATCGAGACCCGACGC chr5:145745146-Alternative-C;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative T tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGCAGAATGGAA CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcgcagaatggaaAGATCGAGACCCGACGC chr5:145745146-Alternative-T;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative C tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg GACCGTCATCTT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAgaccgtcatcttAGATCGAGACCCGACGC chr5:145745146-Alternative-C;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative T tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg AATATACGGCAG CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAaatatacggcagAGATCGAGACCCGACGC chr5:145745146-Alternative-T;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Variant A tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg AAGACGTAGTGG CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAaagacgtagtggAGATCGAGACCCGACGC chr5:145745146-Variant-A;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Variant A tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg ATAGCATGCTGT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAatagcatgctgtAGATCGAGACCCGACGC chr5:145745146-Variant-A;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative T tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg GGCTCATGGTTC CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAggctcatggttcAGATCGAGACCCGACGC chr5:145745146-Alternative-T;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Reference G tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg GACCATACCAAC CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaGactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAgaccataccaacAGATCGAGACCCGACGC chr5:145745146-Reference-G;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative T tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGCTCGTGCTAT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaTactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcgctcgtgctatAGATCGAGACCCGACGC chr5:145745146-Alternative-T;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Variant A tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg AATACGAGCCTT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAaatacgagccttAGATCGAGACCCGACGC chr5:145745146-Variant-A;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative C tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGGACTAAGAGT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcggactaagagtAGATCGAGACCCGACGC chr5:145745146-Alternative-C;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Variant A tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg AATGAAGTTCGC CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAaatgaagttcgcAGATCGAGACCCGACGC chr5:145745146-Variant-A;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Alternative C tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGGCATCTTCGT CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaCactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcggcatcttcgtAGATCGAGACCCGACGC chr5:145745146-Alternative-C;Patient-88 chr5:145745146-GA DeNovo Patient-88 intergenic 0.000223 0.00308 -0.25 0.52 -2.53 POU4F3 26558 Variant A tcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttaggg CGGTCGGTAACA CGACGCGGTCTCTCTCTtcttgccctggcaagcccccagagccagtgaatcgaatccctgctggggaAactggaagaattgagtcttaggagcctctggcttcagtagaccttagggAGAGGGAGACGGACGTCTCAATAAcggtcggtaacaAGATCGAGACCCGACGC chr5:145745146-Variant-A;Patient-88 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative A ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GATGACCTGGAG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgatgacctggagAGATCGAGACCCGACGC chr5:148561903-Alternative-A;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Variant C ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaat AGCAGCAGTATA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAagcagcagtataAGATCGAGACCCGACGC chr5:148561903-Variant-C;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative A ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaat CAGCTCACGTGA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAcagctcacgtgaAGATCGAGACCCGACGC chr5:148561903-Alternative-A;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative A ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GAGATCATAGCA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgagatcatagcaAGATCGAGACCCGACGC chr5:148561903-Alternative-A;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative A ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaat CGCTATAGCGAC CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAcgctatagcgacAGATCGAGACCCGACGC chr5:148561903-Alternative-A;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Reference T ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaat ACCGATCCAAGG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAaccgatccaaggAGATCGAGACCCGACGC chr5:148561903-Reference-T;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative A ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaat CTCTCGCGTCTA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagAttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAActctcgcgtctaAGATCGAGACCCGACGC chr5:148561903-Alternative-A;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Variant C ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaat CGATTACGCCGA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAcgattacgccgaAGATCGAGACCCGACGC chr5:148561903-Variant-C;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Reference T ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GCGATCAATCAG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgcgatcaatcagAGATCGAGACCCGACGC chr5:148561903-Reference-T;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Reference T ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaat ACGTTGGTAACT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAacgttggtaactAGATCGAGACCCGACGC chr5:148561903-Reference-T;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Variant C ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaat AACGCTACGTAT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAaacgctacgtatAGATCGAGACCCGACGC chr5:148561903-Variant-C;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Reference T ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GCCTTCCATTCT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgccttccattctAGATCGAGACCCGACGC chr5:148561903-Reference-T;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Reference T ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaat ATTCACCGCAAG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagTttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAattcaccgcaagAGATCGAGACCCGACGC chr5:148561903-Reference-T;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Variant C ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaat ACTACGTTCCGG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAactacgttccggAGATCGAGACCCGACGC chr5:148561903-Variant-C;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Variant C ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GGACACTATCGA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagCttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAggacactatcgaAGATCGAGACCCGACGC chr5:148561903-Variant-C;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative G ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaat CTAGATAGCTGT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAActagatagctgtAGATCGAGACCCGACGC chr5:148561903-Alternative-G;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative G ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaat ACCATGCTCTAT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAaccatgctctatAGATCGAGACCCGACGC chr5:148561903-Alternative-G;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative G ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GTAAGAATGTCG CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgtaagaatgtcgAGATCGAGACCCGACGC chr5:148561903-Alternative-G;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative G ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaat GAGATATCCGAT CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAgagatatccgatAGATCGAGACCCGACGC chr5:148561903-Alternative-G;Patient-64 chr5:148561903-TC DeNovo Patient-64 intronic ABLIM3 NA 4.95e-05 0.05 3.39 -3.61 ABLIM3 40848 Alternative G ttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaat AGTAGTGTGACA CGACGCGGTCTCTCTCTttataaccaggacaagagtgagccttctcctaataaggtatgagcagaagGttttggactattccttcaactttgagtgagaattgaagaaatgagtaatAGAGGGAGACGGACGTCTCAATAAagtagtgtgacaAGATCGAGACCCGACGC chr5:148561903-Alternative-G;Patient-64 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Variant C tatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatata CGAATCTCCGTC CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAcgaatctccgtcAGATCGAGACCCGACGC chr5:149031092-Variant-C;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative G tatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatata ACACGCAACTGA CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAacacgcaactgaAGATCGAGACCCGACGC chr5:149031092-Alternative-G;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative G tatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatata CTGCGTCCAATC CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAActgcgtccaatcAGATCGAGACCCGACGC chr5:149031092-Alternative-G;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative A tatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatata AATGGTTCTGGT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAaatggttctggtAGATCGAGACCCGACGC chr5:149031092-Alternative-A;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Variant C tatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatata AGCGGTAGACTT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAagcggtagacttAGATCGAGACCCGACGC chr5:149031092-Variant-C;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Variant C tatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatata ACCAATTCGCCT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAaccaattcgcctAGATCGAGACCCGACGC chr5:149031092-Variant-C;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Variant C tatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatata GTATTGCATCAG CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAgtattgcatcagAGATCGAGACCCGACGC chr5:149031092-Variant-C;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Reference T tatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatata CTAATGCAATCG CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAActaatgcaatcgAGATCGAGACCCGACGC chr5:149031092-Reference-T;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative G tatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatata GGCCGTCATCTA CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAggccgtcatctaAGATCGAGACCCGACGC chr5:149031092-Alternative-G;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Reference T tatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatata GCAAGTCGCAAG CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAgcaagtcgcaagAGATCGAGACCCGACGC chr5:149031092-Reference-T;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative A tatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatata AGCAAGTTCGCG CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAagcaagttcgcgAGATCGAGACCCGACGC chr5:149031092-Alternative-A;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative A tatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatata CGATAGAGCGAC CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAcgatagagcgacAGATCGAGACCCGACGC chr5:149031092-Alternative-A;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative G tatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatata ACGAGTACTAGA CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAacgagtactagaAGATCGAGACCCGACGC chr5:149031092-Alternative-G;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Variant C tatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatata ACTATTGGATGC CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatCatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAactattggatgcAGATCGAGACCCGACGC chr5:149031092-Variant-C;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative G tatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatata GTGATCGGCCAT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatGatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAgtgatcggccatAGATCGAGACCCGACGC chr5:149031092-Alternative-G;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Reference T tatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatata GTACCGCTCCAA CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAgtaccgctccaaAGATCGAGACCCGACGC chr5:149031092-Reference-T;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Reference T tatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatata CGATCACGGTGT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAcgatcacggtgtAGATCGAGACCCGACGC chr5:149031092-Reference-T;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Reference T tatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatata CTCACGCACTTA CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatTatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAActcacgcacttaAGATCGAGACCCGACGC chr5:149031092-Reference-T;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative A tatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatata CTACGATTGCTT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAActacgattgcttAGATCGAGACCCGACGC chr5:149031092-Alternative-A;Patient-39 chr5:149031092-TC DeNovo Patient-39 intergenic 0.000919 0.0882 0.05 3.46 0 PPARGC1B 78722 Alternative A tatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatata ACCTACAGCGGT CGACGCGGTCTCTCTCTtatttatatatattatagatatatataaatatatttatatatttatatatAatagagatatataaatatatttatatatttatatattatagatgatataAGAGGGAGACGGACGTCTCAATAAacctacagcggtAGATCGAGACCCGACGC chr5:149031092-Alternative-A;Patient-39 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative C ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctgg CTTATGACCAGG CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAActtatgaccaggAGATCGAGACCCGACGC chr5:149196231-Alternative-C;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative C ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctgg AGACCAAGGCAA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAagaccaaggcaaAGATCGAGACCCGACGC chr5:149196231-Alternative-C;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative C ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GTAAGGCTAAGA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAgtaaggctaagaAGATCGAGACCCGACGC chr5:149196231-Alternative-C;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative C ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ACCTTCAGGCCA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAaccttcaggccaAGATCGAGACCCGACGC chr5:149196231-Alternative-C;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Variant G ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctgg CGATACAGAGCT CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAcgatacagagctAGATCGAGACCCGACGC chr5:149196231-Variant-G;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Variant G ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctgg CATAATCCGCAG CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAcataatccgcagAGATCGAGACCCGACGC chr5:149196231-Variant-G;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative T ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctgg AACTCATGTACG CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAaactcatgtacgAGATCGAGACCCGACGC chr5:149196231-Alternative-T;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative T ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ATCTGTCCTACA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAatctgtcctacaAGATCGAGACCCGACGC chr5:149196231-Alternative-T;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Variant G ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ACTCCGTCACCA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAactccgtcaccaAGATCGAGACCCGACGC chr5:149196231-Variant-G;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Variant G ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GCACCATAAGTC CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAgcaccataagtcAGATCGAGACCCGACGC chr5:149196231-Variant-G;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative T ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctgg AGGACGATAGAA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAaggacgatagaaAGATCGAGACCCGACGC chr5:149196231-Alternative-T;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative T ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GTTCGACGGTAA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAgttcgacggtaaAGATCGAGACCCGACGC chr5:149196231-Alternative-T;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Variant G ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GGCGTGAACTGA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcGaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAggcgtgaactgaAGATCGAGACCCGACGC chr5:149196231-Variant-G;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Reference A ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GAGGTTGATAAC CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAgaggttgataacAGATCGAGACCCGACGC chr5:149196231-Reference-A;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Reference A ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctgg GTTGGATCTAAG CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAgttggatctaagAGATCGAGACCCGACGC chr5:149196231-Reference-A;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Reference A ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ACATCTGGTACA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAacatctggtacaAGATCGAGACCCGACGC chr5:149196231-Reference-A;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative T ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ACACACGCTTAA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcTaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAacacacgcttaaAGATCGAGACCCGACGC chr5:149196231-Alternative-T;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Reference A ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctgg CAACGTTGTTCT CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAcaacgttgttctAGATCGAGACCCGACGC chr5:149196231-Reference-A;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Reference A ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctgg ATCGCTAAGGTT CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcAaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAatcgctaaggttAGATCGAGACCCGACGC chr5:149196231-Reference-A;Patient-62 chr5:149196231-AG DeNovo Patient-62 intronic PPARGC1B 0.000765 9.9e-05 0.13 4.82 0.79 PPARGC1B 86415 Alternative C ggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctgg AGATTCCGTCAA CGACGCGGTCTCTCTCTggctagtctgggattctgggactctggttctaaagctgtttctaagaagcCaggcctacaaaggtggctgctctgagttactggagagagggagatctggAGAGGGAGACGGACGTCTCAATAAagattccgtcaaAGATCGAGACCCGACGC chr5:149196231-Alternative-C;Patient-62 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacag ACTATCGCCGCA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAactatcgccgcaAGATCGAGACCCGACGC chr5:14943202-Alternative-T;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacag ACAACTGGCCGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAacaactggccgtAGATCGAGACCCGACGC chr5:14943202-Alternative-C;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AGGTGATGAGAA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAaggtgatgagaaAGATCGAGACCCGACGC chr5:14943202-Alternative-T;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Variant A aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacag CATGTCAAGAAG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAcatgtcaagaagAGATCGAGACCCGACGC chr5:14943202-Variant-A;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Variant A aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AGTTGGTGAACA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAagttggtgaacaAGATCGAGACCCGACGC chr5:14943202-Variant-A;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Variant A aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GGCGAGAAGAGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAggcgagaagagtAGATCGAGACCCGACGC chr5:14943202-Variant-A;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacag ATTCCATGCGCG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAattccatgcgcgAGATCGAGACCCGACGC chr5:14943202-Alternative-C;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Variant A aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AGGCCGGCATAA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAaggccggcataaAGATCGAGACCCGACGC chr5:14943202-Variant-A;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Variant A aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacag ATCGTGTTCGCG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccAggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAatcgtgttcgcgAGATCGAGACCCGACGC chr5:14943202-Variant-A;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacag CGCCGTACAAGT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAcgccgtacaagtAGATCGAGACCCGACGC chr5:14943202-Alternative-C;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GTGCTCTCGTCA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAgtgctctcgtcaAGATCGAGACCCGACGC chr5:14943202-Alternative-C;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative C aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GTAGTAGAGTAC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccCggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAgtagtagagtacAGATCGAGACCCGACGC chr5:14943202-Alternative-C;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Reference G aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GTCTACGGATAT CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAgtctacggatatAGATCGAGACCCGACGC chr5:14943202-Reference-G;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Reference G aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AGCGCCAATACG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAagcgccaatacgAGATCGAGACCCGACGC chr5:14943202-Reference-G;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AACGACGGTGCA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAaacgacggtgcaAGATCGAGACCCGACGC chr5:14943202-Alternative-T;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacag ACATAGGTGCGC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAacataggtgcgcAGATCGAGACCCGACGC chr5:14943202-Alternative-T;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Alternative T aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AATAGTGGTGCA CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccTggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAaatagtggtgcaAGATCGAGACCCGACGC chr5:14943202-Alternative-T;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Reference G aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GCAAGTTCTGCG CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAgcaagttctgcgAGATCGAGACCCGACGC chr5:14943202-Reference-G;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Reference G aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacag GACCATACTGAC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAgaccatactgacAGATCGAGACCCGACGC chr5:14943202-Reference-G;Patient-77 chr5:14943202-GA DeNovo Patient-77 intergenic 0.00052 0.00154 NA NA NA ANKH 71314 Reference G aggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacag AATCTATCCGAC CGACGCGGTCTCTCTCTaggctggagtgcagtggcgcgatctcggctcactgcaagctccgccttccGggttcatgccattctcctgcctcagcctcccaagtagctggaactacagAGAGGGAGACGGACGTCTCAATAAaatctatccgacAGATCGAGACCCGACGC chr5:14943202-Reference-G;Patient-77 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Reference G cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggt ATTCGAGAGGCG CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAattcgagaggcgAGATCGAGACCCGACGC chr5:149606309-Reference-G;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Reference G cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggt AATGTGCCAGTT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAaatgtgccagttAGATCGAGACCCGACGC chr5:149606309-Reference-G;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Reference G cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggt CTTGCTTCTATC CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAActtgcttctatcAGATCGAGACCCGACGC chr5:149606309-Reference-G;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Reference G cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggt CAGTTCTATCCT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAcagttctatcctAGATCGAGACCCGACGC chr5:149606309-Reference-G;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative T cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggt CGTGCAGTGCTA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAcgtgcagtgctaAGATCGAGACCCGACGC chr5:149606309-Alternative-T;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative T cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggt ACTGTTCGCTAT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAactgttcgctatAGATCGAGACCCGACGC chr5:149606309-Alternative-T;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative T cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggt ACCGGAGATAAT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAaccggagataatAGATCGAGACCCGACGC chr5:149606309-Alternative-T;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Reference G cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggt GGCGGTTCAAGA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagGggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAggcggttcaagaAGATCGAGACCCGACGC chr5:149606309-Reference-G;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative A cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggt AGTGCTTGGATA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAagtgcttggataAGATCGAGACCCGACGC chr5:149606309-Alternative-A;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative A cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggt CTAGATCTCGTT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAActagatctcgttAGATCGAGACCCGACGC chr5:149606309-Alternative-A;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative T cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggt GCATTCCAACGG CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAgcattccaacggAGATCGAGACCCGACGC chr5:149606309-Alternative-T;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Variant C cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggt CTTGCGATAAGG CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAActtgcgataaggAGATCGAGACCCGACGC chr5:149606309-Variant-C;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Variant C cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggt CGACTATGCTAA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAcgactatgctaaAGATCGAGACCCGACGC chr5:149606309-Variant-C;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative A cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggt AGCGCGTAATAA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAagcgcgtaataaAGATCGAGACCCGACGC chr5:149606309-Alternative-A;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative A cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggt ACTATGGATTGC CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAactatggattgcAGATCGAGACCCGACGC chr5:149606309-Alternative-A;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative T cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggt ATCGTGCGAACC CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagTggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAatcgtgcgaaccAGATCGAGACCCGACGC chr5:149606309-Alternative-T;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Alternative A cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggt ACCACGCGTACT CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagAggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAaccacgcgtactAGATCGAGACCCGACGC chr5:149606309-Alternative-A;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Variant C cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggt ACGCGTCCGTTA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAacgcgtccgttaAGATCGAGACCCGACGC chr5:149606309-Variant-C;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Variant C cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggt CGAAGCCAACAG CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAcgaagccaacagAGATCGAGACCCGACGC chr5:149606309-Variant-C;Patient-83 chr5:149606309-GC Inherited Patient-83 intronic CAMK2A 0.000716 4.95e-05 -0.26 0.47 0 SLC6A7 36788 Variant C cactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggt AGTACAAGACCA CGACGCGGTCTCTCTCTcactgcactccagcctgggcaagagtgagactcagtcaaaaaaaaaaaagCggggggggggattttcctgaattgattgactttactaatttctataggtAGAGGGAGACGGACGTCTCAATAAagtacaagaccaAGATCGAGACCCGACGC chr5:149606309-Variant-C;Patient-83 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative G cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc AATCAACCGGCG CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAaatcaaccggcgAGATCGAGACCCGACGC chr5:1505146-Alternative-G;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative G cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc ACGTGAACGCGT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAacgtgaacgcgtAGATCGAGACCCGACGC chr5:1505146-Alternative-G;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative G cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GGTTACTATTCG CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAggttactattcgAGATCGAGACCCGACGC chr5:1505146-Alternative-G;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative G cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GTGTCGGCTGAT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgtgtcggctgatAGATCGAGACCCGACGC chr5:1505146-Alternative-G;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative A cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GGTAGACTAAGG CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAggtagactaaggAGATCGAGACCCGACGC chr5:1505146-Alternative-A;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Reference T cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CGCAATGGTACA CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAcgcaatggtacaAGATCGAGACCCGACGC chr5:1505146-Reference-T;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative A cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CTAATCGTCTGT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAActaatcgtctgtAGATCGAGACCCGACGC chr5:1505146-Alternative-A;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Reference T cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GTGTAATACGCT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgtgtaatacgctAGATCGAGACCCGACGC chr5:1505146-Reference-T;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Reference T cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CAGCGATAAGAT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAcagcgataagatAGATCGAGACCCGACGC chr5:1505146-Reference-T;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Reference T cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CATGAATCCTGA CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAcatgaatcctgaAGATCGAGACCCGACGC chr5:1505146-Reference-T;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative G cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GAATCAAGAACC CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgGggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgaatcaagaaccAGATCGAGACCCGACGC chr5:1505146-Alternative-G;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative A cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GAGTTGCACGCT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgagttgcacgctAGATCGAGACCCGACGC chr5:1505146-Alternative-A;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Reference T cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GCATTCGATAGT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgTggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgcattcgatagtAGATCGAGACCCGACGC chr5:1505146-Reference-T;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative A cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GGACGTGCAAGT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAggacgtgcaagtAGATCGAGACCCGACGC chr5:1505146-Alternative-A;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Alternative A cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GCGTGTCACGTT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgAggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgcgtgtcacgttAGATCGAGACCCGACGC chr5:1505146-Alternative-A;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Variant C cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CTAGTATGGCTA CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAActagtatggctaAGATCGAGACCCGACGC chr5:1505146-Variant-C;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Variant C cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc ATTAACGCGGCG CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAattaacgcggcgAGATCGAGACCCGACGC chr5:1505146-Variant-C;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Variant C cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc CACGTTGTTCAT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAcacgttgttcatAGATCGAGACCCGACGC chr5:1505146-Variant-C;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Variant C cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc GAATCGTACGTT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAgaatcgtacgttAGATCGAGACCCGACGC chr5:1505146-Variant-C;Patient-105 chr5:1505146-TC DeNovo Patient-105 intronic LPCAT1 NA 0.000236989 0.41 8.51 0 LPCAT1 18929 Variant C cgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgc AACTCGGAACAT CGACGCGGTCTCTCTCTcgctgttcctgaaacagcaccgactgcaacactgcttccaccacagggtgCggaataaaatcacagtaacccacgctgttcctgaaacagcaccgactgcAGAGGGAGACGGACGTCTCAATAAaactcggaacatAGATCGAGACCCGACGC chr5:1505146-Variant-C;Patient-105 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative G tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt AGTAAGCGTTGT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAagtaagcgttgtAGATCGAGACCCGACGC chr5:150786310-Alternative-G;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Reference C tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt ATTACCTGCATC CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAattacctgcatcAGATCGAGACCCGACGC chr5:150786310-Reference-C;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative G tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CGACTCTCAAGG CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcgactctcaaggAGATCGAGACCCGACGC chr5:150786310-Alternative-G;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative G tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt ACTGGCATGACT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAactggcatgactAGATCGAGACCCGACGC chr5:150786310-Alternative-G;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative G tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CAAGGTCGGAGA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcaaggtcggagaAGATCGAGACCCGACGC chr5:150786310-Alternative-G;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Variant T tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt GATGTAGGCGCT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAgatgtaggcgctAGATCGAGACCCGACGC chr5:150786310-Variant-T;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative G tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt AGCCTTGTAACA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccGtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAagccttgtaacaAGATCGAGACCCGACGC chr5:150786310-Alternative-G;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Variant T tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CAGTCGTTCGCT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcagtcgttcgctAGATCGAGACCCGACGC chr5:150786310-Variant-T;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Variant T tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt AGTGTTGAGCTT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAagtgttgagcttAGATCGAGACCCGACGC chr5:150786310-Variant-T;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Variant T tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt GGTAGGTTACTA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAggtaggttactaAGATCGAGACCCGACGC chr5:150786310-Variant-T;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative A tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt GAATTGCTGCGG CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAgaattgctgcggAGATCGAGACCCGACGC chr5:150786310-Alternative-A;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative A tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CGCGAACGTCAA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcgcgaacgtcaaAGATCGAGACCCGACGC chr5:150786310-Alternative-A;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Reference C tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt ACGGCTTACTAA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAacggcttactaaAGATCGAGACCCGACGC chr5:150786310-Reference-C;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Variant T tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CATAAGCACCAC CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccTtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcataagcaccacAGATCGAGACCCGACGC chr5:150786310-Variant-T;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Reference C tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt GGTTCATCGTTA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAggttcatcgttaAGATCGAGACCCGACGC chr5:150786310-Reference-C;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Reference C tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CTAGGTCTGTGG CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAActaggtctgtggAGATCGAGACCCGACGC chr5:150786310-Reference-C;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Reference C tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CAGCGATCATCG CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccCtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAcagcgatcatcgAGATCGAGACCCGACGC chr5:150786310-Reference-C;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative A tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt AGTACGCCTTGT CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAagtacgccttgtAGATCGAGACCCGACGC chr5:150786310-Alternative-A;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative A tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt CTCTGAACGCAG CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAActctgaacgcagAGATCGAGACCCGACGC chr5:150786310-Alternative-A;Patient-104 chr5:150786310-CT DeNovo Patient-104 intergenic NA 3.91e-05 -0.17 0.9 0.17 SLC36A2 59158 Alternative A tttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgt GGACGAATCATA CGACGCGGTCTCTCTCTtttggtgggtggactttgtttctttaagaagacagcagcagcaggaaaccAtcaggctcagaggggaattgagagtgagagaggctcagttctagtgtgtAGAGGGAGACGGACGTCTCAATAAggacgaatcataAGATCGAGACCCGACGC chr5:150786310-Alternative-A;Patient-104 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative G tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtga CGTGGAATTATC CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAcgtggaattatcAGATCGAGACCCGACGC chr5:150927131-Alternative-G;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative G tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtga ACGGCTGAGCAA CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAacggctgagcaaAGATCGAGACCCGACGC chr5:150927131-Alternative-G;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative G tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtga CGACGTATCGGT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAcgacgtatcggtAGATCGAGACCCGACGC chr5:150927131-Alternative-G;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative G tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtga ACGTTAATCGAC CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAacgttaatcgacAGATCGAGACCCGACGC chr5:150927131-Alternative-G;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative G tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtga GATACTTAGTCG CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaGtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAgatacttagtcgAGATCGAGACCCGACGC chr5:150927131-Alternative-G;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Variant T tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtga AGGTTGTGCATT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAaggttgtgcattAGATCGAGACCCGACGC chr5:150927131-Variant-T;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Variant T tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtga GCCTTCCAACAG CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAgccttccaacagAGATCGAGACCCGACGC chr5:150927131-Variant-T;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Variant T tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtga CATTCGGCACGA CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAcattcggcacgaAGATCGAGACCCGACGC chr5:150927131-Variant-T;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Variant T tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtga CTCGCGCATATC CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAActcgcgcatatcAGATCGAGACCCGACGC chr5:150927131-Variant-T;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Variant T tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtga AACGCGACTCGT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaTtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAaacgcgactcgtAGATCGAGACCCGACGC chr5:150927131-Variant-T;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative C tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtga GCGTTCGACCAT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAgcgttcgaccatAGATCGAGACCCGACGC chr5:150927131-Alternative-C;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Reference A tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtga GACGATTGCAAT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAgacgattgcaatAGATCGAGACCCGACGC chr5:150927131-Reference-A;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Reference A tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtga AGTTCAATCGGT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAagttcaatcggtAGATCGAGACCCGACGC chr5:150927131-Reference-A;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Reference A tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtga CTTACCTCTATC CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAActtacctctatcAGATCGAGACCCGACGC chr5:150927131-Reference-A;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Reference A tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtga GTAAGCGAAGAT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAgtaagcgaagatAGATCGAGACCCGACGC chr5:150927131-Reference-A;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Reference A tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtga ACTTACTTGTCG CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaAtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAacttacttgtcgAGATCGAGACCCGACGC chr5:150927131-Reference-A;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative C tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtga CGTGTTAGACAT CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAcgtgttagacatAGATCGAGACCCGACGC chr5:150927131-Alternative-C;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative C tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtga AACACGTAACGG CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAaacacgtaacggAGATCGAGACCCGACGC chr5:150927131-Alternative-C;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative C tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtga GGCCATTAAGCG CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAggccattaagcgAGATCGAGACCCGACGC chr5:150927131-Alternative-C;Patient-65 chr5:150927131-AT Inherited Patient-65 intronic FAT2 0.000669 0.000445412 -0.01 2.48 0.18 FAT2 21373 Alternative C tattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtga ACGGCTACGTCA CGACGCGGTCTCTCTCTtattatttcagtggcaaggcaaatggctaagttttgtcataaaactttcaCtctgattcttccacctttgaagcccttctccagctgactggttaggtgaAGAGGGAGACGGACGTCTCAATAAacggctacgtcaAGATCGAGACCCGACGC chr5:150927131-Alternative-C;Patient-65 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative C agatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat AAGGCTTGAGCG CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAaaggcttgagcgAGATCGAGACCCGACGC chr5:150987352-Alternative-C;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative C agatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GGTCTGAAGTTA CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAggtctgaagttaAGATCGAGACCCGACGC chr5:150987352-Alternative-C;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Variant G agatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat CTCATACCGTAA CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAActcataccgtaaAGATCGAGACCCGACGC chr5:150987352-Variant-G;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative C agatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat ACACCGGACCTT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAacaccggaccttAGATCGAGACCCGACGC chr5:150987352-Alternative-C;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Reference A agatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat ATCGTCTAACAG CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAatcgtctaacagAGATCGAGACCCGACGC chr5:150987352-Reference-A;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Reference A agatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat CGATGCTCATGG CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAcgatgctcatggAGATCGAGACCCGACGC chr5:150987352-Reference-A;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative T agatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GATCCACGGTAA CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAgatccacggtaaAGATCGAGACCCGACGC chr5:150987352-Alternative-T;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Variant G agatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat ATCTGTTCAACC CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAatctgttcaaccAGATCGAGACCCGACGC chr5:150987352-Variant-G;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Variant G agatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat AACTCCTTCAGT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAaactccttcagtAGATCGAGACCCGACGC chr5:150987352-Variant-G;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative C agatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GCGTATAACGTT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAgcgtataacgttAGATCGAGACCCGACGC chr5:150987352-Alternative-C;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Reference A agatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GTGACTCGTGGT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAgtgactcgtggtAGATCGAGACCCGACGC chr5:150987352-Reference-A;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative T agatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat AGTACTGCGATT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAagtactgcgattAGATCGAGACCCGACGC chr5:150987352-Alternative-T;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Variant G agatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat ACAACGTTGAAC CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAacaacgttgaacAGATCGAGACCCGACGC chr5:150987352-Variant-G;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Reference A agatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GTCGAATTGTGT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAgtcgaattgtgtAGATCGAGACCCGACGC chr5:150987352-Reference-A;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Variant G agatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat AGACGGACGTTA CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaGtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAagacggacgttaAGATCGAGACCCGACGC chr5:150987352-Variant-G;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative T agatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat AGGCTCGTTGGT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAaggctcgttggtAGATCGAGACCCGACGC chr5:150987352-Alternative-T;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative T agatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat ATTCATCGATCG CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAattcatcgatcgAGATCGAGACCCGACGC chr5:150987352-Alternative-T;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative T agatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat GACGGCAGCATA CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaTtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAgacggcagcataAGATCGAGACCCGACGC chr5:150987352-Alternative-T;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Reference A agatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat CATCAAGTCGAT CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaAtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAcatcaagtcgatAGATCGAGACCCGACGC chr5:150987352-Reference-A;Patient-32 chr5:150987352-AG DeNovo Patient-32 intergenic NA 0.000513 0.06 3.66 0.29 SPARC 79262 Alternative C agatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaat CAAGTTACGTTC CGACGCGGTCTCTCTCTagatataatttacatgccataaaatctatccatttaaagtatgctagtcaCtggtttttactttacctacagagtcatgcaaccatctctgtaatctaatAGAGGGAGACGGACGTCTCAATAAcaagttacgttcAGATCGAGACCCGACGC chr5:150987352-Alternative-C;Patient-32 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative C aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat AGCTGCGACGTT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAagctgcgacgttAGATCGAGACCCGACGC chr5:151003612-Alternative-C;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative C aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat CGCAGATCAACC CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAcgcagatcaaccAGATCGAGACCCGACGC chr5:151003612-Alternative-C;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Reference A aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GTCGTTGGTCGA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAgtcgttggtcgaAGATCGAGACCCGACGC chr5:151003612-Reference-A;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative C aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat CAGGTATGCGTC CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAcaggtatgcgtcAGATCGAGACCCGACGC chr5:151003612-Alternative-C;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Reference A aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat AACGGTCAAGCG CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAaacggtcaagcgAGATCGAGACCCGACGC chr5:151003612-Reference-A;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Reference A aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GGTGTCGAACAG CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAggtgtcgaacagAGATCGAGACCCGACGC chr5:151003612-Reference-A;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative C aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GTAGATACTCCT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAgtagatactcctAGATCGAGACCCGACGC chr5:151003612-Alternative-C;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Reference A aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GGATGTGCAGCA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAggatgtgcagcaAGATCGAGACCCGACGC chr5:151003612-Reference-A;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative C aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GGAGTAACACAT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcCcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAggagtaacacatAGATCGAGACCCGACGC chr5:151003612-Alternative-C;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Variant T aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat AGGACAGATGGT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAaggacagatggtAGATCGAGACCCGACGC chr5:151003612-Variant-T;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Variant T aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat CGCAAGCGATAC CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAcgcaagcgatacAGATCGAGACCCGACGC chr5:151003612-Variant-T;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Variant T aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat ACGAGACAAGTT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAacgagacaagttAGATCGAGACCCGACGC chr5:151003612-Variant-T;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Reference A aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat CACAACCGGAGT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcAcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAcacaaccggagtAGATCGAGACCCGACGC chr5:151003612-Reference-A;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Variant T aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat ATTGCCGGAGCT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAattgccggagctAGATCGAGACCCGACGC chr5:151003612-Variant-T;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Variant T aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat CACATAACGGCA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcTcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAcacataacggcaAGATCGAGACCCGACGC chr5:151003612-Variant-T;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative G aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat AAGTACGCTGAT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAaagtacgctgatAGATCGAGACCCGACGC chr5:151003612-Alternative-G;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative G aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat ACGTGGCTAACT CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAacgtggctaactAGATCGAGACCCGACGC chr5:151003612-Alternative-G;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative G aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat ACGATGGACTAA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAacgatggactaaAGATCGAGACCCGACGC chr5:151003612-Alternative-G;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative G aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat GTGTTGCGTGCA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAgtgttgcgtgcaAGATCGAGACCCGACGC chr5:151003612-Alternative-G;Patient-61 chr5:151003612-AT Inherited Patient-61 intergenic NA 0.000513 -0.02 2.31 0.22 SPARC 63002 Alternative G aggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaat ACCTGACGTCCA CGACGCGGTCTCTCTCTaggaggattgcttgagcccaggagggtcaaggctgcagtgagctatgatcGcaccattgcactgcagcctgggcaacagagtgaggccctgtctaaaaatAGAGGGAGACGGACGTCTCAATAAacctgacgtccaAGATCGAGACCCGACGC chr5:151003612-Alternative-G;Patient-61 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Reference G gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggatta ATCGTTATGTGG CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAatcgttatgtggAGATCGAGACCCGACGC chr5:151051405-Reference-G;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Reference G gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GGTCGTACGTGT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAggtcgtacgtgtAGATCGAGACCCGACGC chr5:151051405-Reference-G;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Variant T gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggatta AGTTGGAGCGGT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAagttggagcggtAGATCGAGACCCGACGC chr5:151051405-Variant-T;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative C gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggatta ACGAGTACGTAT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAacgagtacgtatAGATCGAGACCCGACGC chr5:151051405-Alternative-C;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative C gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CTGCTGCGTACT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAActgctgcgtactAGATCGAGACCCGACGC chr5:151051405-Alternative-C;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Reference G gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GCGGCGACTTAA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAgcggcgacttaaAGATCGAGACCCGACGC chr5:151051405-Reference-G;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative A gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggatta AGCGCTCAATGA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAagcgctcaatgaAGATCGAGACCCGACGC chr5:151051405-Alternative-A;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative A gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CGCGGAAGTGTT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAcgcggaagtgttAGATCGAGACCCGACGC chr5:151051405-Alternative-A;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative A gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GCGAATCTCTTA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAgcgaatctcttaAGATCGAGACCCGACGC chr5:151051405-Alternative-A;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Variant T gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggatta ACGCAAGCAGCA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAacgcaagcagcaAGATCGAGACCCGACGC chr5:151051405-Variant-T;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Variant T gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GGTACATTGTGT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAggtacattgtgtAGATCGAGACCCGACGC chr5:151051405-Variant-T;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Variant T gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GAGTAACGTATC CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAgagtaacgtatcAGATCGAGACCCGACGC chr5:151051405-Variant-T;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Variant T gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CACGCGCATAGT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactTagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAcacgcgcatagtAGATCGAGACCCGACGC chr5:151051405-Variant-T;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Reference G gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggatta ATCCGTCTGTTA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAatccgtctgttaAGATCGAGACCCGACGC chr5:151051405-Reference-G;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Reference G gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggatta GCCGGCCATAAT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactGagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAgccggccataatAGATCGAGACCCGACGC chr5:151051405-Reference-G;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative A gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CATCAGGTCAGT CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAcatcaggtcagtAGATCGAGACCCGACGC chr5:151051405-Alternative-A;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative A gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggatta AGTGGCTACTAA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactAagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAagtggctactaaAGATCGAGACCCGACGC chr5:151051405-Alternative-A;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative C gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggatta ACGGCGCTACTA CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAacggcgctactaAGATCGAGACCCGACGC chr5:151051405-Alternative-C;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative C gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CTGAGTCTACGG CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAActgagtctacggAGATCGAGACCCGACGC chr5:151051405-Alternative-C;Patient-46 chr5:151051405-GT DeNovo Patient-46 intronic SPARC NA 0.000297 0.41 8.52 2.75 SPARC 15209 Alternative C gcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggatta CGATCATAACGG CGACGCGGTCTCTCTCTgcccccactctgggctttggacagccctgagtcctgcctgctcttgcactCagcctcacagtcaacatttagggcagcagctggttcagcctggggattaAGAGGGAGACGGACGTCTCAATAAcgatcataacggAGATCGAGACCCGACGC chr5:151051405-Alternative-C;Patient-46 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Reference T gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca AAGGCACGGTGT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAaaggcacggtgtAGATCGAGACCCGACGC chr5:151070552-Reference-T;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative G gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GTTCGATAGTGT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAgttcgatagtgtAGATCGAGACCCGACGC chr5:151070552-Alternative-G;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Reference T gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CTTGGACCTCGT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAActtggacctcgtAGATCGAGACCCGACGC chr5:151070552-Reference-T;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative G gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ATCGTGCGATAT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAatcgtgcgatatAGATCGAGACCCGACGC chr5:151070552-Alternative-G;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative G gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CGACTGATAGAT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAcgactgatagatAGATCGAGACCCGACGC chr5:151070552-Alternative-G;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative G gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GACTGCGGACTA CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAgactgcggactaAGATCGAGACCCGACGC chr5:151070552-Alternative-G;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Reference T gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CGACGCAGACTT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAcgacgcagacttAGATCGAGACCCGACGC chr5:151070552-Reference-T;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative G gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CGCTTATTGCAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccGggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAcgcttattgcagAGATCGAGACCCGACGC chr5:151070552-Alternative-G;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative A gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GGTTGATCGTCG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAggttgatcgtcgAGATCGAGACCCGACGC chr5:151070552-Alternative-A;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative A gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GCCGTATCGAAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAgccgtatcgaagAGATCGAGACCCGACGC chr5:151070552-Alternative-A;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative A gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CTCTGATGTGTT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAActctgatgtgttAGATCGAGACCCGACGC chr5:151070552-Alternative-A;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Variant C gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ACACACATTGAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAacacacattgagAGATCGAGACCCGACGC chr5:151070552-Variant-C;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Reference T gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GAGCATGCTGAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAgagcatgctgagAGATCGAGACCCGACGC chr5:151070552-Reference-T;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Reference T gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ACCGGCGTAACA CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccTggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAaccggcgtaacaAGATCGAGACCCGACGC chr5:151070552-Reference-T;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative A gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca GTTGTGCTTCAT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAgttgtgcttcatAGATCGAGACCCGACGC chr5:151070552-Alternative-A;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Variant C gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CTACGTACTACC CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAActacgtactaccAGATCGAGACCCGACGC chr5:151070552-Variant-C;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Variant C gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca CACGAACGAATT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAcacgaacgaattAGATCGAGACCCGACGC chr5:151070552-Variant-C;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Variant C gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ATCCTAGCGGAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAatcctagcggagAGATCGAGACCCGACGC chr5:151070552-Variant-C;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Alternative A gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ATAGGTTACCGT CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccAggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAataggttaccgtAGATCGAGACCCGACGC chr5:151070552-Alternative-A;Patient-61 chr5:151070552-TC Inherited Patient-61 intergenic 0.000223 0.000513 0.11 4.39 0.79 SPARC 3936 Variant C gttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattaca ACAACACGGCAG CGACGCGGTCTCTCTCTgttaatagaggcaaggtcttgctaggttgcccaggctggtcttgaactccCggcctcaagcaatcctcctgccttggcctcccaatgtgctagtattacaAGAGGGAGACGGACGTCTCAATAAacaacacggcagAGATCGAGACCCGACGC chr5:151070552-Variant-C;Patient-61 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Reference G tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta AGCTTGGTCTAA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAagcttggtctaaAGATCGAGACCCGACGC chr5:153419279-Reference-G;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Reference G tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta ACCTGTCGCCAA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAacctgtcgccaaAGATCGAGACCCGACGC chr5:153419279-Reference-G;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Variant A tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CTCTCTGTCCGA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAActctctgtccgaAGATCGAGACCCGACGC chr5:153419279-Variant-A;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Reference G tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CTAGCGACGAGA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAActagcgacgagaAGATCGAGACCCGACGC chr5:153419279-Reference-G;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative C tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CTAAGTCCGCGA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAActaagtccgcgaAGATCGAGACCCGACGC chr5:153419279-Alternative-C;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Reference G tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta GGATATCGCGAG CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAggatatcgcgagAGATCGAGACCCGACGC chr5:153419279-Reference-G;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative C tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CGCATTCGTCAC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAcgcattcgtcacAGATCGAGACCCGACGC chr5:153419279-Alternative-C;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Variant A tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CTCATCGCATCG CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAActcatcgcatcgAGATCGAGACCCGACGC chr5:153419279-Variant-A;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative T tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CGCTAAGGACGA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAcgctaaggacgaAGATCGAGACCCGACGC chr5:153419279-Alternative-T;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative C tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CAAGCAACTATC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAcaagcaactatcAGATCGAGACCCGACGC chr5:153419279-Alternative-C;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Variant A tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta AGTTGGCGGTGT CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAagttggcggtgtAGATCGAGACCCGACGC chr5:153419279-Variant-A;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Reference G tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta GCGATTCGAGCT CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatGaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAgcgattcgagctAGATCGAGACCCGACGC chr5:153419279-Reference-G;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative C tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta CTGAAGTCGTGC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAActgaagtcgtgcAGATCGAGACCCGACGC chr5:153419279-Alternative-C;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative T tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta GTAACGGATTGT CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAgtaacggattgtAGATCGAGACCCGACGC chr5:153419279-Alternative-T;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Variant A tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta ACCAACGTAGTC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAaccaacgtagtcAGATCGAGACCCGACGC chr5:153419279-Variant-A;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Variant A tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta AGCCAACCGAAC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatAaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAagccaaccgaacAGATCGAGACCCGACGC chr5:153419279-Variant-A;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative T tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta AACGCGAATAAC CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAaacgcgaataacAGATCGAGACCCGACGC chr5:153419279-Alternative-T;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative T tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta ATAGGCTCTGCG CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAataggctctgcgAGATCGAGACCCGACGC chr5:153419279-Alternative-T;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative T tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta ACAGCTTGGCAT CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatTaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAacagcttggcatAGATCGAGACCCGACGC chr5:153419279-Alternative-T;Patient-42 chr5:153419279-GA DeNovo Patient-42 intronic MFAP3 NA 0.000317 0.23 6.26 0.72 MFAP3 759 Alternative C tcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgta GAGTAGTCGCGA CGACGCGGTCTCTCTCTtcatcagaaagatgcaactcttctgttgccctcgagcagtgaaaatgcatCaaatccagactgacagagctagtaaaatattaaaatcaatcttattgtaAGAGGGAGACGGACGTCTCAATAAgagtagtcgcgaAGATCGAGACCCGACGC chr5:153419279-Alternative-C;Patient-42 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Reference G ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagac CGTTACGGAGCT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAcgttacggagctAGATCGAGACCCGACGC chr5:153845949-Reference-G;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Reference G ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagac ACGTACGCGCAA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAacgtacgcgcaaAGATCGAGACCCGACGC chr5:153845949-Reference-G;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative C ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GTACTAGGTTCA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgtactaggttcaAGATCGAGACCCGACGC chr5:153845949-Alternative-C;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Variant A ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GATTGAGAGTCT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgattgagagtctAGATCGAGACCCGACGC chr5:153845949-Variant-A;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Reference G ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagac ATTCACTGCGTT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAattcactgcgttAGATCGAGACCCGACGC chr5:153845949-Reference-G;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative C ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagac CATGCGTACCAC CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAcatgcgtaccacAGATCGAGACCCGACGC chr5:153845949-Alternative-C;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Reference G ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagac ACACGTAGATGT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAacacgtagatgtAGATCGAGACCCGACGC chr5:153845949-Reference-G;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Reference G ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagac ACTTAGCTGACT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacGgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAacttagctgactAGATCGAGACCCGACGC chr5:153845949-Reference-G;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative C ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GCAACACTAGAA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgcaacactagaaAGATCGAGACCCGACGC chr5:153845949-Alternative-C;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative T ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagac CGTAAGTAACGT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAcgtaagtaacgtAGATCGAGACCCGACGC chr5:153845949-Alternative-T;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative T ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagac CTGCTTGGAATA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAActgcttggaataAGATCGAGACCCGACGC chr5:153845949-Alternative-T;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative T ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagac AGTATCGCGGCA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAagtatcgcggcaAGATCGAGACCCGACGC chr5:153845949-Alternative-T;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative T ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GCATTGGCGCTA CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgcattggcgctaAGATCGAGACCCGACGC chr5:153845949-Alternative-T;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative C ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GAATCAGCGACG CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgaatcagcgacgAGATCGAGACCCGACGC chr5:153845949-Alternative-C;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Variant A ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagac ATCGGCATTCTT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAatcggcattcttAGATCGAGACCCGACGC chr5:153845949-Variant-A;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Variant A ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagac AAGACGCAACGC CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAaagacgcaacgcAGATCGAGACCCGACGC chr5:153845949-Variant-A;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Variant A ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GTAAGCGCATAT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgtaagcgcatatAGATCGAGACCCGACGC chr5:153845949-Variant-A;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Variant A ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GATATGGTTGCT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacAgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgatatggttgctAGATCGAGACCCGACGC chr5:153845949-Variant-A;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative C ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GAGCTAACTCAT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacCgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgagctaactcatAGATCGAGACCCGACGC chr5:153845949-Alternative-C;Patient-93 chr5:153845949-GA Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.16 0.96 -2.23 HAND1 11874 Alternative T ggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagac GCGATCTTACTT CGACGCGGTCTCTCTCTggtcacaaaagtatttgagtatctgctgtgggccaggtgccaaaggaaacTgactctgtcctccaggagccaggaatttcagaggagctaagactcagacAGAGGGAGACGGACGTCTCAATAAgcgatcttacttAGATCGAGACCCGACGC chr5:153845949-Alternative-T;Patient-93 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative G ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GCAATCAGTGCA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgcaatcagtgcaAGATCGAGACCCGACGC chr5:153860282-Alternative-G;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative G ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GACCTAGGTCGT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgacctaggtcgtAGATCGAGACCCGACGC chr5:153860282-Alternative-G;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative G ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GCCTTACAACGC CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgccttacaacgcAGATCGAGACCCGACGC chr5:153860282-Alternative-G;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative G ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca ACATCGATGAAC CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAacatcgatgaacAGATCGAGACCCGACGC chr5:153860282-Alternative-G;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative G ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CACGATTAGGTT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccGaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAcacgattaggttAGATCGAGACCCGACGC chr5:153860282-Alternative-G;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Reference T ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CGCGAACACAAC CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAcgcgaacacaacAGATCGAGACCCGACGC chr5:153860282-Reference-T;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Reference T ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CACGACCACATA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAcacgaccacataAGATCGAGACCCGACGC chr5:153860282-Reference-T;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Reference T ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CGCCTAACGAGA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAcgcctaacgagaAGATCGAGACCCGACGC chr5:153860282-Reference-T;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Reference T ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GGACGGCTTCTA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAggacggcttctaAGATCGAGACCCGACGC chr5:153860282-Reference-T;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative A ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GTACACAATAGG CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgtacacaataggAGATCGAGACCCGACGC chr5:153860282-Alternative-A;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Reference T ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GATTGCTTGAGT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccTaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgattgcttgagtAGATCGAGACCCGACGC chr5:153860282-Reference-T;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Variant C ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CAGATCAGCTAT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAcagatcagctatAGATCGAGACCCGACGC chr5:153860282-Variant-C;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Variant C ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca CTCTCGCGCATA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAActctcgcgcataAGATCGAGACCCGACGC chr5:153860282-Variant-C;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative A ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GATAGGAACGTT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgataggaacgttAGATCGAGACCCGACGC chr5:153860282-Alternative-A;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative A ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GGACGGTATCTA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAggacggtatctaAGATCGAGACCCGACGC chr5:153860282-Alternative-A;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative A ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GAGTGTTAGGCG CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgagtgttaggcgAGATCGAGACCCGACGC chr5:153860282-Alternative-A;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Variant C ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca GTCGTTCTGCGT CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAgtcgttctgcgtAGATCGAGACCCGACGC chr5:153860282-Variant-C;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Alternative A ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca AATATGGTGGAC CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccAaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAaatatggtggacAGATCGAGACCCGACGC chr5:153860282-Alternative-A;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Variant C ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca ACTGCTGCGAAG CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAactgctgcgaagAGATCGAGACCCGACGC chr5:153860282-Variant-C;Patient-87 chr5:153860282-TC Inherited Patient-87 intergenic 6.4e-05 0.000513 0.14 4.84 0.49 HAND1 2457 Variant C ggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatca AGCTGGTTATCA CGACGCGGTCTCTCTCTggtttcacacataatctcattgccacaatttaaaccagcttgtatcttccCaagattctccacaattgtattcgcaacacaaacttccaaaatcccatcaAGAGGGAGACGGACGTCTCAATAAagctggttatcaAGATCGAGACCCGACGC chr5:153860282-Variant-C;Patient-87 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative C gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CTGGCGAATATA CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAActggcgaatataAGATCGAGACCCGACGC chr5:154209652-Alternative-C;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative C gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GTACAGATACAG CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgtacagatacagAGATCGAGACCCGACGC chr5:154209652-Alternative-C;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Reference G gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CAACAGGACGAC CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAcaacaggacgacAGATCGAGACCCGACGC chr5:154209652-Reference-G;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Reference G gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GGCTGTGATTAT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAggctgtgattatAGATCGAGACCCGACGC chr5:154209652-Reference-G;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Reference G gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CATTATGAGTCG CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAcattatgagtcgAGATCGAGACCCGACGC chr5:154209652-Reference-G;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Reference G gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CGTAGTTCGACC CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAcgtagttcgaccAGATCGAGACCCGACGC chr5:154209652-Reference-G;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Reference G gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CAAGCAACGGAA CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattGtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAcaagcaacggaaAGATCGAGACCCGACGC chr5:154209652-Reference-G;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative T gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CTATTGATCGGT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAActattgatcggtAGATCGAGACCCGACGC chr5:154209652-Alternative-T;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative T gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa AAGTATTCCGGT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAaagtattccggtAGATCGAGACCCGACGC chr5:154209652-Alternative-T;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative C gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GTTCGCGTGTTC CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgttcgcgtgttcAGATCGAGACCCGACGC chr5:154209652-Alternative-C;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative C gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GCGACTTCTAGG CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgcgacttctaggAGATCGAGACCCGACGC chr5:154209652-Alternative-C;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative C gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GTCAGCTGTAGT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattCtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgtcagctgtagtAGATCGAGACCCGACGC chr5:154209652-Alternative-C;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Variant A gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GCGATTCGAAGG CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgcgattcgaaggAGATCGAGACCCGACGC chr5:154209652-Variant-A;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Variant A gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa CAGTCGGACAGT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAcagtcggacagtAGATCGAGACCCGACGC chr5:154209652-Variant-A;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Variant A gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa AGCGTGGTTGTC CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAagcgtggttgtcAGATCGAGACCCGACGC chr5:154209652-Variant-A;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Variant A gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GGACTTAGCTTA CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAggacttagcttaAGATCGAGACCCGACGC chr5:154209652-Variant-A;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative T gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GCGACATATGGT CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgcgacatatggtAGATCGAGACCCGACGC chr5:154209652-Alternative-T;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative T gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GTAGCGGTGATA CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgtagcggtgataAGATCGAGACCCGACGC chr5:154209652-Alternative-T;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Alternative T gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa AGTGCGCTTATA CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattTtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAagtgcgcttataAGATCGAGACCCGACGC chr5:154209652-Alternative-T;Patient-24 chr5:154209652-GA Inherited Patient-24 intronic FAXDC2 3.2e-05 4.95e-05 0.93 12.8 1.19 FAXDC2 20560 Variant A gagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaa GCGACACGAATC CGACGCGGTCTCTCTCTgagctgaggtggttcacccagacacctgggcagatgactaaaagatgattAtcttgtctgggaaagaagccaggatgtggtttgggtggagctgggtaaaAGAGGGAGACGGACGTCTCAATAAgcgacacgaatcAGATCGAGACCCGACGC chr5:154209652-Variant-A;Patient-24 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Reference A tctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GTAGTGCGGTAC CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAgtagtgcggtacAGATCGAGACCCGACGC chr5:156543043-Reference-A;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Reference A tctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg ACCGTACTCGTC CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAaccgtactcgtcAGATCGAGACCCGACGC chr5:156543043-Reference-A;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Reference A tctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GATGTGATTCGT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAgatgtgattcgtAGATCGAGACCCGACGC chr5:156543043-Reference-A;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Reference A tctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg AGCGGACGGTTA CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAagcggacggttaAGATCGAGACCCGACGC chr5:156543043-Reference-A;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative C tctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg AGATACGCCAAT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAagatacgccaatAGATCGAGACCCGACGC chr5:156543043-Alternative-C;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative C tctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GTAGAATCGTGT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAgtagaatcgtgtAGATCGAGACCCGACGC chr5:156543043-Alternative-C;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative C tctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CAACTCGTGATA CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAcaactcgtgataAGATCGAGACCCGACGC chr5:156543043-Alternative-C;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Variant G tctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CTTACGCGAATT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAActtacgcgaattAGATCGAGACCCGACGC chr5:156543043-Variant-G;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative C tctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg ATAGGAGCGATT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAataggagcgattAGATCGAGACCCGACGC chr5:156543043-Alternative-C;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Variant G tctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg AGTCGTACGTAA CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAagtcgtacgtaaAGATCGAGACCCGACGC chr5:156543043-Variant-G;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative C tctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CTGCTAGTTGCG CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccCtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAActgctagttgcgAGATCGAGACCCGACGC chr5:156543043-Alternative-C;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Variant G tctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GGTTGCGTTGAG CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAggttgcgttgagAGATCGAGACCCGACGC chr5:156543043-Variant-G;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative T tctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CGCAGTAAGTCA CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAcgcagtaagtcaAGATCGAGACCCGACGC chr5:156543043-Alternative-T;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Reference A tctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GTGAACGTACGG CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccAtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAgtgaacgtacggAGATCGAGACCCGACGC chr5:156543043-Reference-A;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Variant G tctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg AGCATGCCTATC CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAagcatgcctatcAGATCGAGACCCGACGC chr5:156543043-Variant-G;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Variant G tctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CGGTCATTGACG CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccGtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAcggtcattgacgAGATCGAGACCCGACGC chr5:156543043-Variant-G;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative T tctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg ACCGTGTACTAA CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAaccgtgtactaaAGATCGAGACCCGACGC chr5:156543043-Alternative-T;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative T tctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CGTCGTTGGTTC CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAcgtcgttggttcAGATCGAGACCCGACGC chr5:156543043-Alternative-T;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative T tctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg CTTGGATCTACC CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAActtggatctaccAGATCGAGACCCGACGC chr5:156543043-Alternative-T;Patient-83 chr5:156543043-AG DeNovo Patient-83 intergenic NA 0.000513 -0.17 0.86 -0.47 MED7 26877 Alternative T tctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctg GATCAGCTTCTT CGACGCGGTCTCTCTCTtctttattctgttatatttttccattaaacaatagtttaaccttaaagccTtaatgtgacatctacatatccattgttttataaaaaattaaaaagtctgAGAGGGAGACGGACGTCTCAATAAgatcagcttcttAGATCGAGACCCGACGC chr5:156543043-Alternative-T;Patient-83 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative A tttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttc AGCTACGCCAAG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAagctacgccaagAGATCGAGACCCGACGC chr5:157382968-Alternative-A;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Reference C tttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttc GACTAGTGAATC CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAgactagtgaatcAGATCGAGACCCGACGC chr5:157382968-Reference-C;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative A tttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttc CACGAGAATCAA CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcacgagaatcaaAGATCGAGACCCGACGC chr5:157382968-Alternative-A;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Reference C tttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttc AGGACTTCAATC CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAaggacttcaatcAGATCGAGACCCGACGC chr5:157382968-Reference-C;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Reference C tttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttc AGTCGCAGATCG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAagtcgcagatcgAGATCGAGACCCGACGC chr5:157382968-Reference-C;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative A tttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttc CGATACGGCTGT CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcgatacggctgtAGATCGAGACCCGACGC chr5:157382968-Alternative-A;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative A tttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttc CAACGCAAGCCA CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcaacgcaagccaAGATCGAGACCCGACGC chr5:157382968-Alternative-A;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Reference C tttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttc ATCTGTCGCGTC CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAatctgtcgcgtcAGATCGAGACCCGACGC chr5:157382968-Reference-C;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative A tttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttc AATGCGCATCTT CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttAttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAaatgcgcatcttAGATCGAGACCCGACGC chr5:157382968-Alternative-A;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative T tttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttc CGCGTGATGAGT CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcgcgtgatgagtAGATCGAGACCCGACGC chr5:157382968-Alternative-T;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative T tttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttc CGTTACTTAACC CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcgttacttaaccAGATCGAGACCCGACGC chr5:157382968-Alternative-T;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative T tttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttc AGCTAGATCGCG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAagctagatcgcgAGATCGAGACCCGACGC chr5:157382968-Alternative-T;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Reference C tttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttc GACATCGTCTAA CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttCttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAgacatcgtctaaAGATCGAGACCCGACGC chr5:157382968-Reference-C;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Variant G tttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttc GCCAAGACGAAG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAgccaagacgaagAGATCGAGACCCGACGC chr5:157382968-Variant-G;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Variant G tttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttc ATCTGTACTGCT CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAatctgtactgctAGATCGAGACCCGACGC chr5:157382968-Variant-G;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative T tttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttc CAGCGATTATCA CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAcagcgattatcaAGATCGAGACCCGACGC chr5:157382968-Alternative-T;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Alternative T tttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttc AACGACGTACGG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttTttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAaacgacgtacggAGATCGAGACCCGACGC chr5:157382968-Alternative-T;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Variant G tttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttc AGCTATTCGTTC CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAagctattcgttcAGATCGAGACCCGACGC chr5:157382968-Variant-G;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Variant G tttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttc GCCTTCTACTAA CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAAgccttctactaaAGATCGAGACCCGACGC chr5:157382968-Variant-G;Patient-87 chr5:157382968-CG Inherited Patient-87 intergenic NA 0.000512821 -0.25 0.53 0 CLINT1 96784 Variant G tttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttc CTTAGTCGACGG CGACGCGGTCTCTCTCTtttctttctttccttccttccttctttcctttctttcctttttattctttGttttcttttctttctttctttcttccttccttccttccttccttccttcAGAGGGAGACGGACGTCTCAATAActtagtcgacggAGATCGAGACCCGACGC chr5:157382968-Variant-G;Patient-87 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative G gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ATCATGGATCGT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAatcatggatcgtAGATCGAGACCCGACGC chr5:158433767-Alternative-G;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative G gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc AATAGATCGGCA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAaatagatcggcaAGATCGAGACCCGACGC chr5:158433767-Alternative-G;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative G gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GTCATCGCGGAA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAgtcatcgcggaaAGATCGAGACCCGACGC chr5:158433767-Alternative-G;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative G gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc AGAGGTAATGCT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAagaggtaatgctAGATCGAGACCCGACGC chr5:158433767-Alternative-G;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Variant T gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc AATGCGTCTTGA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAaatgcgtcttgaAGATCGAGACCCGACGC chr5:158433767-Variant-T;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Variant T gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GATGTGATAACG CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAgatgtgataacgAGATCGAGACCCGACGC chr5:158433767-Variant-T;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative A gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc AGACTAGAGGCG CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAagactagaggcgAGATCGAGACCCGACGC chr5:158433767-Alternative-A;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative A gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GGATCGAACTGA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAggatcgaactgaAGATCGAGACCCGACGC chr5:158433767-Alternative-A;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative A gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ACTTCGCTACGC CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAacttcgctacgcAGATCGAGACCCGACGC chr5:158433767-Alternative-A;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative G gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GCGCGTAAGTAC CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaGtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAgcgcgtaagtacAGATCGAGACCCGACGC chr5:158433767-Alternative-G;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative A gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc CGACTGACTACA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAcgactgactacaAGATCGAGACCCGACGC chr5:158433767-Alternative-A;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Alternative A gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GGCGGCATAAGT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaAtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAggcggcataagtAGATCGAGACCCGACGC chr5:158433767-Alternative-A;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Variant T gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ACCGTCAACGCT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAaccgtcaacgctAGATCGAGACCCGACGC chr5:158433767-Variant-T;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Variant T gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc CTAGATTGTTCG CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAActagattgttcgAGATCGAGACCCGACGC chr5:158433767-Variant-T;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Reference C gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ATCACCTTCCAA CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAatcaccttccaaAGATCGAGACCCGACGC chr5:158433767-Reference-C;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Variant T gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ACGCAGTATAAG CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaTtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAacgcagtataagAGATCGAGACCCGACGC chr5:158433767-Variant-T;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Reference C gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc GTAGAGGTGATT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAgtagaggtgattAGATCGAGACCCGACGC chr5:158433767-Reference-C;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Reference C gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ATCTTGTGCTGT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAatcttgtgctgtAGATCGAGACCCGACGC chr5:158433767-Reference-C;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Reference C gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc ACATCGGAACAT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAacatcggaacatAGATCGAGACCCGACGC chr5:158433767-Reference-C;Patient-89 chr5:158433767-CT Inherited Patient-89 intronic EBF1 3.2e-05 4.95e-05 0.09 4.18 0.36 EBF1 93020 Reference C gaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagc CAACGGTAGTAT CGACGCGGTCTCTCTCTgaaatttaaacacagaattgattggtcagaccacacttaattatacccaaCtatacccaaaaatactcaaaacataaaaagtttggtccataaataaagcAGAGGGAGACGGACGTCTCAATAAcaacggtagtatAGATCGAGACCCGACGC chr5:158433767-Reference-C;Patient-89 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Variant G tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta ACAAGATCATGG CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAacaagatcatggAGATCGAGACCCGACGC chr5:158716773-Variant-G;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Variant G tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta AGATCAGTTCCA CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAagatcagttccaAGATCGAGACCCGACGC chr5:158716773-Variant-G;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Variant G tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta ATCATGCGTCTA CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAatcatgcgtctaAGATCGAGACCCGACGC chr5:158716773-Variant-G;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Variant G tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GTCTAGTCACTT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgtctagtcacttAGATCGAGACCCGACGC chr5:158716773-Variant-G;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Variant G tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta ACATCAGGTAGT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggGaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAacatcaggtagtAGATCGAGACCCGACGC chr5:158716773-Variant-G;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative T tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta CTCTTGAGTACC CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAActcttgagtaccAGATCGAGACCCGACGC chr5:158716773-Alternative-T;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative T tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta ATTGAGTGTGGT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAattgagtgtggtAGATCGAGACCCGACGC chr5:158716773-Alternative-T;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative T tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta AATAGCCGACTT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAaatagccgacttAGATCGAGACCCGACGC chr5:158716773-Alternative-T;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Reference A tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GGTACTACACAG CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAggtactacacagAGATCGAGACCCGACGC chr5:158716773-Reference-A;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Reference A tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GCGTAGCATAAT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgcgtagcataatAGATCGAGACCCGACGC chr5:158716773-Reference-A;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative C tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta CTTGGTACGCGT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAActtggtacgcgtAGATCGAGACCCGACGC chr5:158716773-Alternative-C;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Reference A tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta CAGACGCATCGT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAcagacgcatcgtAGATCGAGACCCGACGC chr5:158716773-Reference-A;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative T tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GTATAACGATGG CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgtataacgatggAGATCGAGACCCGACGC chr5:158716773-Alternative-T;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Reference A tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta AAGAACGCACCG CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAaagaacgcaccgAGATCGAGACCCGACGC chr5:158716773-Reference-A;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative T tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GACGGAGCAGTT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggTaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgacggagcagttAGATCGAGACCCGACGC chr5:158716773-Alternative-T;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Reference A tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta CGACGAGATACG CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggAaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAcgacgagatacgAGATCGAGACCCGACGC chr5:158716773-Reference-A;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative C tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GTGAATCTCGGC CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgtgaatctcggcAGATCGAGACCCGACGC chr5:158716773-Alternative-C;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative C tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GACTGTCGCGAA CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgactgtcgcgaaAGATCGAGACCCGACGC chr5:158716773-Alternative-C;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative C tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta GCGACGTGACTT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAgcgacgtgacttAGATCGAGACCCGACGC chr5:158716773-Alternative-C;Patient-37 chr5:158716773-AG Inherited Patient-37 intergenic 3.2e-05 0.000513 -0.35 0.27 -2.77 UBLCP1 26683 Alternative C tgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagta CGGATTCACGCT CGACGCGGTCTCTCTCTtgagatctgaatgaaagccaccatttggaatgtgcagagagaggatgtggCaatcttaaggggcaaataaaaggaagaaatgaaaaaaagtacaaaagtaAGAGGGAGACGGACGTCTCAATAAcggattcacgctAGATCGAGACCCGACGC chr5:158716773-Alternative-C;Patient-37 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative T agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CTTACGCTAGCG CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAActtacgctagcgAGATCGAGACCCGACGC chr5:158747289-Alternative-T;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative T agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct GACCGCCTTGTT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAgaccgccttgttAGATCGAGACCCGACGC chr5:158747289-Alternative-T;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative T agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct ACCTGGTACGCA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAacctggtacgcaAGATCGAGACCCGACGC chr5:158747289-Alternative-T;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Reference G agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct GGTCGGACAACT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAggtcggacaactAGATCGAGACCCGACGC chr5:158747289-Reference-G;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative T agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct ATCTGTACGCTA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAatctgtacgctaAGATCGAGACCCGACGC chr5:158747289-Alternative-T;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative T agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CGGCTCATACGA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaTcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAcggctcatacgaAGATCGAGACCCGACGC chr5:158747289-Alternative-T;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Reference G agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct GGTAACACAACA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAggtaacacaacaAGATCGAGACCCGACGC chr5:158747289-Reference-G;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Reference G agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CTGAGTTGGATT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAActgagttggattAGATCGAGACCCGACGC chr5:158747289-Reference-G;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Reference G agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct ACCATTGTGAAC CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAaccattgtgaacAGATCGAGACCCGACGC chr5:158747289-Reference-G;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Reference G agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct GAATCGATGCCG CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaGcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAgaatcgatgccgAGATCGAGACCCGACGC chr5:158747289-Reference-G;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative C agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct ACCTCGGCATTC CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAacctcggcattcAGATCGAGACCCGACGC chr5:158747289-Alternative-C;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Variant A agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct AAGCGTGTGCGA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAaagcgtgtgcgaAGATCGAGACCCGACGC chr5:158747289-Variant-A;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative C agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CTTGAAGACGAA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAActtgaagacgaaAGATCGAGACCCGACGC chr5:158747289-Alternative-C;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Variant A agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct AGCTGCGACTGA CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAagctgcgactgaAGATCGAGACCCGACGC chr5:158747289-Variant-A;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Variant A agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CTGCGCTTATGC CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAActgcgcttatgcAGATCGAGACCCGACGC chr5:158747289-Variant-A;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative C agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CTCGCGATCGAT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAActcgcgatcgatAGATCGAGACCCGACGC chr5:158747289-Alternative-C;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Variant A agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CAGACGCTACAC CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAcagacgctacacAGATCGAGACCCGACGC chr5:158747289-Variant-A;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative C agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct GGAGTACGCAGT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAggagtacgcagtAGATCGAGACCCGACGC chr5:158747289-Alternative-C;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Variant A agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct AGTTACTGTTCG CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaAcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAagttactgttcgAGATCGAGACCCGACGC chr5:158747289-Variant-A;Patient-58 chr5:158747289-GA DeNovo Patient-58 intronic IL12B NA 8.38e-05 0.75 11.5 0.56 IL12B 10191 Alternative C agtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgct CGCCGTTACAAT CGACGCGGTCTCTCTCTagtgcatggggcattgtgaacacgtgacaaatagtatctttccttatggaCcacatataatcatccaaaactcactgatgtccctgatgaagaagctgctAGAGGGAGACGGACGTCTCAATAAcgccgttacaatAGATCGAGACCCGACGC chr5:158747289-Alternative-C;Patient-58 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative C aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GTTCTGGCAATA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAgttctggcaataAGATCGAGACCCGACGC chr5:160945293-Alternative-C;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative T aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc AGTGTAGTCTGT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAagtgtagtctgtAGATCGAGACCCGACGC chr5:160945293-Alternative-T;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative C aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc ACACGCATGTCA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAacacgcatgtcaAGATCGAGACCCGACGC chr5:160945293-Alternative-C;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative C aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc CATGACATCACT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAcatgacatcactAGATCGAGACCCGACGC chr5:160945293-Alternative-C;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative C aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GTAGATACATGG CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAgtagatacatggAGATCGAGACCCGACGC chr5:160945293-Alternative-C;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative T aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc CAGTTCCGGCTT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAcagttccggcttAGATCGAGACCCGACGC chr5:160945293-Alternative-T;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative T aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc ACTCCGGCTGTT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAactccggctgttAGATCGAGACCCGACGC chr5:160945293-Alternative-T;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Variant A aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GTACACGTGTGC CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAgtacacgtgtgcAGATCGAGACCCGACGC chr5:160945293-Variant-A;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Variant A aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GTTAAGTTAGCG CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAgttaagttagcgAGATCGAGACCCGACGC chr5:160945293-Variant-A;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative T aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GCGATAGTTGTT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAgcgatagttgttAGATCGAGACCCGACGC chr5:160945293-Alternative-T;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Reference G aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc AACGTGCTCGCA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAaacgtgctcgcaAGATCGAGACCCGACGC chr5:160945293-Reference-G;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Reference G aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc AATACTACTCGG CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAaatactactcggAGATCGAGACCCGACGC chr5:160945293-Reference-G;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Variant A aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc ACGTTCTCGTCA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAacgttctcgtcaAGATCGAGACCCGACGC chr5:160945293-Variant-A;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Reference G aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc CAAGCGACAGCA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAcaagcgacagcaAGATCGAGACCCGACGC chr5:160945293-Reference-G;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Reference G aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc ACGTGTCGTCGA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAacgtgtcgtcgaAGATCGAGACCCGACGC chr5:160945293-Reference-G;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Variant A aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc AGGCACGACACT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAaggcacgacactAGATCGAGACCCGACGC chr5:160945293-Variant-A;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Reference G aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc CATAGCGTAGAA CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaGctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAcatagcgtagaaAGATCGAGACCCGACGC chr5:160945293-Reference-G;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative C aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc GGACGTGATAAG CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaCctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAggacgtgataagAGATCGAGACCCGACGC chr5:160945293-Alternative-C;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Alternative T aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc CACGGTCGTGAT CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaTctagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAcacggtcgtgatAGATCGAGACCCGACGC chr5:160945293-Alternative-T;Patient-83 chr5:160945293-GA Inherited Patient-83 intronic GABRB2 0.000127 4.95e-05 -0.03 2.21 1.09 GABRB2 29836 Variant A aagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatc ATTAACGGCAAG CGACGCGGTCTCTCTCTaagaattcctttgagaatagggaaaagcagtcatttttcagaaaccctgaActagaaaaattccaatggcttaaaaaatgaattatttacagtttcaatcAGAGGGAGACGGACGTCTCAATAAattaacggcaagAGATCGAGACCCGACGC chr5:160945293-Variant-A;Patient-83 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative C agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgat CATAGCGTAGTT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAcatagcgtagttAGATCGAGACCCGACGC chr5:161010732-Alternative-C;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative C agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgat CGTGGTACGAAC CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAcgtggtacgaacAGATCGAGACCCGACGC chr5:161010732-Alternative-C;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Variant A agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgat ATTACACCGCAA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAattacaccgcaaAGATCGAGACCCGACGC chr5:161010732-Variant-A;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative T agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgat GCATCACTGGAT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAgcatcactggatAGATCGAGACCCGACGC chr5:161010732-Alternative-T;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative C agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgat GATTCAAGACGA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAgattcaagacgaAGATCGAGACCCGACGC chr5:161010732-Alternative-C;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative C agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgat GTATACCAACCG CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAgtataccaaccgAGATCGAGACCCGACGC chr5:161010732-Alternative-C;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative C agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgat ACTGCGCTCAGT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccCcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAactgcgctcagtAGATCGAGACCCGACGC chr5:161010732-Alternative-C;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Reference G agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgat CTAAGTTCGCTT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAActaagttcgcttAGATCGAGACCCGACGC chr5:161010732-Reference-G;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Reference G agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgat ATTCTTGCGAGA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAattcttgcgagaAGATCGAGACCCGACGC chr5:161010732-Reference-G;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Variant A agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgat ACTGTCGGCTGA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAactgtcggctgaAGATCGAGACCCGACGC chr5:161010732-Variant-A;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Reference G agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgat AAGCACGATGAG CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAaagcacgatgagAGATCGAGACCCGACGC chr5:161010732-Reference-G;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Variant A agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgat AATGACTCCTTC CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAaatgactccttcAGATCGAGACCCGACGC chr5:161010732-Variant-A;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Variant A agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgat GATTACTTGGAC CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAgattacttggacAGATCGAGACCCGACGC chr5:161010732-Variant-A;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative T agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgat AGATAGTCCGAA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAagatagtccgaaAGATCGAGACCCGACGC chr5:161010732-Alternative-T;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Reference G agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgat ATTCCGGCTCGA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAattccggctcgaAGATCGAGACCCGACGC chr5:161010732-Reference-G;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative T agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgat CAGCTTACGACG CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAcagcttacgacgAGATCGAGACCCGACGC chr5:161010732-Alternative-T;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Variant A agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgat GCGACTCTTGGT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccAcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAgcgactcttggtAGATCGAGACCCGACGC chr5:161010732-Variant-A;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative T agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgat AGTGAATCATCG CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAagtgaatcatcgAGATCGAGACCCGACGC chr5:161010732-Alternative-T;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Alternative T agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgat GGACCGTTGTGT CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccTcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAggaccgttgtgtAGATCGAGACCCGACGC chr5:161010732-Alternative-T;Patient-53 chr5:161010732-GA DeNovo Patient-53 intergenic 0.000446 0.000513 0.03 3.07 1.31 GABRB2 35601 Reference G agcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgat ACACGGTCGAGA CGACGCGGTCTCTCTCTagcaattcaagtttagatagtaaaatgataacaagaagttaacccaaaccGcgtcctaaacctatagggacatactttataaatacagcttatttctgatAGAGGGAGACGGACGTCTCAATAAacacggtcgagaAGATCGAGACCCGACGC chr5:161010732-Reference-G;Patient-53 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative T attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt AATCTCGTTCGT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAaatctcgttcgtAGATCGAGACCCGACGC chr5:161234900-Alternative-T;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative T attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt CATGCGATGACG CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAcatgcgatgacgAGATCGAGACCCGACGC chr5:161234900-Alternative-T;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Variant A attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GTTCGTCATGTT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgttcgtcatgttAGATCGAGACCCGACGC chr5:161234900-Variant-A;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Reference G attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GACTAGAATCAG CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgactagaatcagAGATCGAGACCCGACGC chr5:161234900-Reference-G;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Variant A attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GATCGTGCCGAA CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgatcgtgccgaaAGATCGAGACCCGACGC chr5:161234900-Variant-A;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative T attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ACTTGCACAACA CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAacttgcacaacaAGATCGAGACCCGACGC chr5:161234900-Alternative-T;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Reference G attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GTGTATCACGCG CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgtgtatcacgcgAGATCGAGACCCGACGC chr5:161234900-Reference-G;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Reference G attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt AATCTTAGCCGT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAaatcttagccgtAGATCGAGACCCGACGC chr5:161234900-Reference-G;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative T attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt CGTCGTACCGAA CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAcgtcgtaccgaaAGATCGAGACCCGACGC chr5:161234900-Alternative-T;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative T attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt AGCGCCGTGTTA CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaTattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAagcgccgtgttaAGATCGAGACCCGACGC chr5:161234900-Alternative-T;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Reference G attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GCGAATTGTGTT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgcgaattgtgttAGATCGAGACCCGACGC chr5:161234900-Reference-G;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Variant A attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt CTCTTCGCACAG CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAActcttcgcacagAGATCGAGACCCGACGC chr5:161234900-Variant-A;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Reference G attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt CACAGACGTTAT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaGattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAcacagacgttatAGATCGAGACCCGACGC chr5:161234900-Reference-G;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Variant A attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ACCACAGCTAAC CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAaccacagctaacAGATCGAGACCCGACGC chr5:161234900-Variant-A;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Variant A attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GTTGACAGGTGG CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaAattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgttgacaggtggAGATCGAGACCCGACGC chr5:161234900-Variant-A;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative C attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ATCCGTCATCGC CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAatccgtcatcgcAGATCGAGACCCGACGC chr5:161234900-Alternative-C;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative C attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ACTAATCCGTGT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAactaatccgtgtAGATCGAGACCCGACGC chr5:161234900-Alternative-C;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative C attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt GAATGGATGGTT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAgaatggatggttAGATCGAGACCCGACGC chr5:161234900-Alternative-C;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative C attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ATAGGCGAGATT CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAataggcgagattAGATCGAGACCCGACGC chr5:161234900-Alternative-C;Patient-19 chr5:161234900-GA DeNovo Patient-19 intergenic NA 0.000513 0 2.66 0.93 GABRA1 39296 Alternative C attgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtatt ACATGTGGCGTC CGACGCGGTCTCTCTCTattgtgtactgggcaatgccctctctcagaggctagaaattgaagaattaCattgcatagcatggcatacatgtcttgattggtaaattagttgagtattAGAGGGAGACGGACGTCTCAATAAacatgtggcgtcAGATCGAGACCCGACGC chr5:161234900-Alternative-C;Patient-19 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Reference C tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaa ACATCATCGAAC CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAacatcatcgaacAGATCGAGACCCGACGC chr5:161406936-Reference-C;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Reference C tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaa CTTAACACGAAG CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAActtaacacgaagAGATCGAGACCCGACGC chr5:161406936-Reference-C;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative A tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaa ACAACAACGGAA CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAacaacaacggaaAGATCGAGACCCGACGC chr5:161406936-Alternative-A;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Reference C tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaa ATTCGCTGAGAT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAattcgctgagatAGATCGAGACCCGACGC chr5:161406936-Reference-C;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Reference C tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaa CGATTATACGGT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAcgattatacggtAGATCGAGACCCGACGC chr5:161406936-Reference-C;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative A tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaa GATACTGCGTCG CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAgatactgcgtcgAGATCGAGACCCGACGC chr5:161406936-Alternative-A;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Variant T tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaa AGTCGTCTAGAT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAagtcgtctagatAGATCGAGACCCGACGC chr5:161406936-Variant-T;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Reference C tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaa GTATCCGCGAGA CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaCattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAgtatccgcgagaAGATCGAGACCCGACGC chr5:161406936-Reference-C;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative A tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaa GGTATTGCCGAC CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAggtattgccgacAGATCGAGACCCGACGC chr5:161406936-Alternative-A;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative A tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaa GGTGGCTAAGGT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAggtggctaaggtAGATCGAGACCCGACGC chr5:161406936-Alternative-A;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative A tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaa CGCCACCAACTT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaAattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAcgccaccaacttAGATCGAGACCCGACGC chr5:161406936-Alternative-A;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Variant T tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaa ACACCGACGCAT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAacaccgacgcatAGATCGAGACCCGACGC chr5:161406936-Variant-T;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Variant T tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaa CAGATAACAGCA CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAcagataacagcaAGATCGAGACCCGACGC chr5:161406936-Variant-T;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Variant T tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaa GCGGTACTAGGT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAgcggtactaggtAGATCGAGACCCGACGC chr5:161406936-Variant-T;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Variant T tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaa GACCAACGTAAC CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaTattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAgaccaacgtaacAGATCGAGACCCGACGC chr5:161406936-Variant-T;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative G tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaa CGATACTGGTCA CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAcgatactggtcaAGATCGAGACCCGACGC chr5:161406936-Alternative-G;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative G tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaa AGGCTAACGCGT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAaggctaacgcgtAGATCGAGACCCGACGC chr5:161406936-Alternative-G;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative G tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaa ATCCTGCACCAT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAatcctgcaccatAGATCGAGACCCGACGC chr5:161406936-Alternative-G;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative G tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaa GTTCCGTACAAT CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAgttccgtacaatAGATCGAGACCCGACGC chr5:161406936-Alternative-G;Patient-12 chr5:161406936-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA GABRG2 87711 Alternative G tttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaa GGACGCAGCTAA CGACGCGGTCTCTCTCTtttttattcttaaaatttaaagaaatcaaaataagtggagagatataccaGattcatataaaatcataatcattaggcaaatagattttcttattggaaaAGAGGGAGACGGACGTCTCAATAAggacgcagctaaAGATCGAGACCCGACGC chr5:161406936-Alternative-G;Patient-12 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative G tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GAGATGTCCGTC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAgagatgtccgtcAGATCGAGACCCGACGC chr5:161509096-Alternative-G;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative G tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc AAGGCCACCGAA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAaaggccaccgaaAGATCGAGACCCGACGC chr5:161509096-Alternative-G;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative G tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CACTGTATTGAC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAcactgtattgacAGATCGAGACCCGACGC chr5:161509096-Alternative-G;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative G tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc ATAGACGGCTAA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAatagacggctaaAGATCGAGACCCGACGC chr5:161509096-Alternative-G;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative G tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GCGTGAGGATTA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaGttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAgcgtgaggattaAGATCGAGACCCGACGC chr5:161509096-Alternative-G;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative T tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GGCGAAGTTGAG CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAggcgaagttgagAGATCGAGACCCGACGC chr5:161509096-Alternative-T;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Variant A tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CTTAGATGGCGA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAActtagatggcgaAGATCGAGACCCGACGC chr5:161509096-Variant-A;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative T tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CGCATAATTGTC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAcgcataattgtcAGATCGAGACCCGACGC chr5:161509096-Alternative-T;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Variant A tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CATCGGAACAAT CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAcatcggaacaatAGATCGAGACCCGACGC chr5:161509096-Variant-A;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative T tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GTGTAACGGCAG CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAgtgtaacggcagAGATCGAGACCCGACGC chr5:161509096-Alternative-T;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative T tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc AGCGGAAGGTTC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAagcggaaggttcAGATCGAGACCCGACGC chr5:161509096-Alternative-T;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Variant A tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GATGGAGATGGT CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAgatggagatggtAGATCGAGACCCGACGC chr5:161509096-Variant-A;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Alternative T tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc ACGTTCCGCGAA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaTttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAacgttccgcgaaAGATCGAGACCCGACGC chr5:161509096-Alternative-T;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Reference C tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc AGACGGCGATAC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAagacggcgatacAGATCGAGACCCGACGC chr5:161509096-Reference-C;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Variant A tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc ATTCGCACTCTA CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAattcgcactctaAGATCGAGACCCGACGC chr5:161509096-Variant-A;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Reference C tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CTCTCGGCATGT CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAActctcggcatgtAGATCGAGACCCGACGC chr5:161509096-Reference-C;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Reference C tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CTCACGAAGGAT CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAActcacgaaggatAGATCGAGACCCGACGC chr5:161509096-Reference-C;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Variant A tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc CTAGCTTCCGAT CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaAttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAActagcttccgatAGATCGAGACCCGACGC chr5:161509096-Variant-A;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Reference C tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc ACGGTCTAAGCG CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAacggtctaagcgAGATCGAGACCCGACGC chr5:161509096-Reference-C;Patient-92 chr5:161509096-CA Inherited Patient-92 intronic GABRG2 0.000255 9.9e-05 -0.02 2.39 -0.51 GABRG2 14447 Reference C tgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtacc GAATCGACCGTC CGACGCGGTCTCTCTCTtgaagtttttttccccttgagagtacatacttgattgaattaattatgaaCttttcagtgcttatgtgttctgccttgatactactggtgattatgtaccAGAGGGAGACGGACGTCTCAATAAgaatcgaccgtcAGATCGAGACCCGACGC chr5:161509096-Reference-C;Patient-92 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative A catgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GCAACGCCACAT CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAgcaacgccacatAGATCGAGACCCGACGC chr5:162986351-Alternative-A;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Variant T catgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt AGTAGTCGTGTT CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAagtagtcgtgttAGATCGAGACCCGACGC chr5:162986351-Variant-T;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative A catgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt ATCCGAGCGAAC CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAatccgagcgaacAGATCGAGACCCGACGC chr5:162986351-Alternative-A;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative A catgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GACGTAAGGTTA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAgacgtaaggttaAGATCGAGACCCGACGC chr5:162986351-Alternative-A;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Reference C catgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt AGGCCGGATAAG CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAaggccggataagAGATCGAGACCCGACGC chr5:162986351-Reference-C;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Reference C catgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GACAACACGTCC CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAgacaacacgtccAGATCGAGACCCGACGC chr5:162986351-Reference-C;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Reference C catgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt ATAATGCGGTCA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAataatgcggtcaAGATCGAGACCCGACGC chr5:162986351-Reference-C;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Reference C catgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt AGGTTGTATCGA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAaggttgtatcgaAGATCGAGACCCGACGC chr5:162986351-Reference-C;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Reference C catgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GGTCGAACGTGA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggCcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAggtcgaacgtgaAGATCGAGACCCGACGC chr5:162986351-Reference-C;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Variant T catgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt AATACGAACGCA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAaatacgaacgcaAGATCGAGACCCGACGC chr5:162986351-Variant-T;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Variant T catgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt CAACCGACCAAG CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAcaaccgaccaagAGATCGAGACCCGACGC chr5:162986351-Variant-T;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative G catgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt ATTCCATACAGG CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAattccatacaggAGATCGAGACCCGACGC chr5:162986351-Alternative-G;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative A catgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt ACGCTATGAATC CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAacgctatgaatcAGATCGAGACCCGACGC chr5:162986351-Alternative-A;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Variant T catgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt CAACTCCTACCA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAcaactcctaccaAGATCGAGACCCGACGC chr5:162986351-Variant-T;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative A catgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt ATCGCACAACCG CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggAcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAatcgcacaaccgAGATCGAGACCCGACGC chr5:162986351-Alternative-A;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Variant T catgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt CTTAACGCCAGG CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggTcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAActtaacgccaggAGATCGAGACCCGACGC chr5:162986351-Variant-T;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative G catgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt AGGCTCGTGGTT CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAaggctcgtggttAGATCGAGACCCGACGC chr5:162986351-Alternative-G;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative G catgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GGCCGATCTGTT CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAggccgatctgttAGATCGAGACCCGACGC chr5:162986351-Alternative-G;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative G catgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GACATAGATCGC CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAgacatagatcgcAGATCGAGACCCGACGC chr5:162986351-Alternative-G;Patient-88 chr5:162986351-CT DeNovo Patient-88 intergenic NA 0.000513 -0.32 0.32 -2.19 HMMR 98978 Alternative G catgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctatttt GGTGGAGCGTTA CGACGCGGTCTCTCTCTcatgccctttagctgtcacctcctatcctcctacaccacctaccctctggGcctaggcaatcattaacctactttctgtatgtgtagatttacctattttAGAGGGAGACGGACGTCTCAATAAggtggagcgttaAGATCGAGACCCGACGC chr5:162986351-Alternative-G;Patient-88 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative C aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GCCGTGTAACCA CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAgccgtgtaaccaAGATCGAGACCCGACGC chr5:167842810-Alternative-C;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative C aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc CGTTCCGATGAG CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAcgttccgatgagAGATCGAGACCCGACGC chr5:167842810-Alternative-C;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative C aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc CTAACTGTGGAT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAActaactgtggatAGATCGAGACCCGACGC chr5:167842810-Alternative-C;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative C aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ATCCGTAGACGC CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAatccgtagacgcAGATCGAGACCCGACGC chr5:167842810-Alternative-C;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative A aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc AGGTTCTGTGAT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAaggttctgtgatAGATCGAGACCCGACGC chr5:167842810-Alternative-A;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Variant T aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc CAAGCATGATCA CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAcaagcatgatcaAGATCGAGACCCGACGC chr5:167842810-Variant-T;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative C aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GAGTTATGCCGC CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggCgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAgagttatgccgcAGATCGAGACCCGACGC chr5:167842810-Alternative-C;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative A aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ATATGGTTGACC CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAatatggttgaccAGATCGAGACCCGACGC chr5:167842810-Alternative-A;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Reference G aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GTACACTAGACT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAgtacactagactAGATCGAGACCCGACGC chr5:167842810-Reference-G;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative A aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ATTGTGGTCGGC CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAattgtggtcggcAGATCGAGACCCGACGC chr5:167842810-Alternative-A;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Reference G aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GTCAATGCTCGG CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAgtcaatgctcggAGATCGAGACCCGACGC chr5:167842810-Reference-G;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Reference G aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ACGATCCTACGG CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAacgatcctacggAGATCGAGACCCGACGC chr5:167842810-Reference-G;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Variant T aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GGCTCGTTACCT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAggctcgttacctAGATCGAGACCCGACGC chr5:167842810-Variant-T;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Reference G aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ATTGCTCCGCGA CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAattgctccgcgaAGATCGAGACCCGACGC chr5:167842810-Reference-G;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative A aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc CGATCCAATCGC CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAcgatccaatcgcAGATCGAGACCCGACGC chr5:167842810-Alternative-A;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Reference G aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ATTGCCTATGCT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggGgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAattgcctatgctAGATCGAGACCCGACGC chr5:167842810-Reference-G;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Variant T aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc AACGTGTAACAG CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAaacgtgtaacagAGATCGAGACCCGACGC chr5:167842810-Variant-T;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Variant T aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc AAGAACGTCGAT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAaagaacgtcgatAGATCGAGACCCGACGC chr5:167842810-Variant-T;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Alternative A aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc ACCACACCAACA CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggAgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAaccacaccaacaAGATCGAGACCCGACGC chr5:167842810-Alternative-A;Patient-89 chr5:167842810-GT Inherited Patient-89 intronic WWC1 NA 4.95e-05 0.08 3.94 1.23 RARS 70652 Variant T aggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggc GGACGACTTGCT CGACGCGGTCTCTCTCTaggagcttagaagtgaagctagagattttcaagtgtgtgtgtgtggggggTgggggggggcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggcAGAGGGAGACGGACGTCTCAATAAggacgacttgctAGATCGAGACCCGACGC chr5:167842810-Variant-T;Patient-89 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative A agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg CTAGTTGCAAGT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActagttgcaagtAGATCGAGACCCGACGC chr5:167875724-Alternative-A;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Reference C agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg CTAGCCTATGTT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActagcctatgttAGATCGAGACCCGACGC chr5:167875724-Reference-C;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Reference C agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ATAAGCGGACGG CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAataagcggacggAGATCGAGACCCGACGC chr5:167875724-Reference-C;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative A agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg CTTAAGGCGCCT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActtaaggcgcctAGATCGAGACCCGACGC chr5:167875724-Alternative-A;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Reference C agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg CAGAGCGATACG CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAcagagcgatacgAGATCGAGACCCGACGC chr5:167875724-Reference-C;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative A agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg GTCGACTCCTAC CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgtcgactcctacAGATCGAGACCCGACGC chr5:167875724-Alternative-A;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative A agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg AACAGACGAACC CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAaacagacgaaccAGATCGAGACCCGACGC chr5:167875724-Alternative-A;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative A agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ACTCTCGTACAT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaAgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAactctcgtacatAGATCGAGACCCGACGC chr5:167875724-Alternative-A;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Reference C agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg GACCGACAGTAC CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgaccgacagtacAGATCGAGACCCGACGC chr5:167875724-Reference-C;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Variant T agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg AAGGCGATCATA CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAaaggcgatcataAGATCGAGACCCGACGC chr5:167875724-Variant-T;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Reference C agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg GATGTTCTCGTT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaCgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgatgttctcgttAGATCGAGACCCGACGC chr5:167875724-Reference-C;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Variant T agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ATCGTTCGTTCA CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAatcgttcgttcaAGATCGAGACCCGACGC chr5:167875724-Variant-T;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative G agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ACGTGCACCAAC CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAacgtgcaccaacAGATCGAGACCCGACGC chr5:167875724-Alternative-G;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative G agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg GGCCGTACGAAT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAggccgtacgaatAGATCGAGACCCGACGC chr5:167875724-Alternative-G;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Variant T agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg CTAGTAACGTCT CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAActagtaacgtctAGATCGAGACCCGACGC chr5:167875724-Variant-T;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative G agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ATAGACATACGC CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAatagacatacgcAGATCGAGACCCGACGC chr5:167875724-Alternative-G;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Variant T agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg ACACCAACACCA CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAacaccaacaccaAGATCGAGACCCGACGC chr5:167875724-Variant-T;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Variant T agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg AGGCGAATAGCG CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaTgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAaggcgaatagcgAGATCGAGACCCGACGC chr5:167875724-Variant-T;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative G agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg AATCGTTGGCAA CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAaatcgttggcaaAGATCGAGACCCGACGC chr5:167875724-Alternative-G;Patient-82 chr5:167875724-CT DeNovo Patient-82 intronic WWC1 6.4e-05 4.95e-05 -0.41 0.17 0 RARS 37738 Alternative G agtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctg GTCATCGTTACA CGACGCGGTCTCTCTCTagtgcagtggcacgatctcagctcactgcaagctccgccacctgggttcaGgccattctcatgcctcatcctcctgggtagctgggactacaggcacctgAGAGGGAGACGGACGTCTCAATAAgtcatcgttacaAGATCGAGACCCGACGC chr5:167875724-Alternative-G;Patient-82 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative G cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GTTGGAGCGTGA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgttggagcgtgaAGATCGAGACCCGACGC chr5:168693791-Alternative-G;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative G cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GGCGGTTCGTTA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAggcggttcgttaAGATCGAGACCCGACGC chr5:168693791-Alternative-G;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative G cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GAGATATGCGTC CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgagatatgcgtcAGATCGAGACCCGACGC chr5:168693791-Alternative-G;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative T cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcct CTACGACTTGAA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAActacgacttgaaAGATCGAGACCCGACGC chr5:168693791-Alternative-T;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative G cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GCGTTAGTATAC CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgcgttagtatacAGATCGAGACCCGACGC chr5:168693791-Alternative-G;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative T cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcct ACACCAATGCGG CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAacaccaatgcggAGATCGAGACCCGACGC chr5:168693791-Alternative-T;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative G cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcct ATCACGAGCGCA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgGtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAatcacgagcgcaAGATCGAGACCCGACGC chr5:168693791-Alternative-G;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative T cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GCAAGGCTCCAT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgcaaggctccatAGATCGAGACCCGACGC chr5:168693791-Alternative-T;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative T cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcct CTGCGGTCCAAT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAActgcggtccaatAGATCGAGACCCGACGC chr5:168693791-Alternative-T;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Alternative T cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GTCAATCCGCAT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgTtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgtcaatccgcatAGATCGAGACCCGACGC chr5:168693791-Alternative-T;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Reference A cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GATATCGCAAGA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgatatcgcaagaAGATCGAGACCCGACGC chr5:168693791-Reference-A;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Reference A cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GTTCGCTTGTCG CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgttcgcttgtcgAGATCGAGACCCGACGC chr5:168693791-Reference-A;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Reference A cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcct CGTTCGTACCGT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAcgttcgtaccgtAGATCGAGACCCGACGC chr5:168693791-Reference-A;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Variant C cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GATACGTAGGAT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgatacgtaggatAGATCGAGACCCGACGC chr5:168693791-Variant-C;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Reference A cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcct ACAAGGAGATGT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAacaaggagatgtAGATCGAGACCCGACGC chr5:168693791-Reference-A;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Reference A cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GTTACTCGAGCG CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgAtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgttactcgagcgAGATCGAGACCCGACGC chr5:168693791-Reference-A;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Variant C cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GCGTACGGTCTA CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgcgtacggtctaAGATCGAGACCCGACGC chr5:168693791-Variant-C;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Variant C cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcct CAGATGCTAACG CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAcagatgctaacgAGATCGAGACCCGACGC chr5:168693791-Variant-C;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Variant C cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcct GATCCGTGTAAT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAgatccgtgtaatAGATCGAGACCCGACGC chr5:168693791-Variant-C;Patient-101 chr5:168693791-AC DeNovo Patient-101 intronic SLIT3 3.2e-05 4.95e-05 -0.03 2.16 -0.93 SLIT3 34341 Variant C cctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcct AAGCACGGACCT CGACGCGGTCTCTCTCTcctagcaatacggcatagtaggaaagaatggcccaagttaagcatccatgCtcttcatccatgataatccagagcatgactttgtaaaattttccttcctAGAGGGAGACGGACGTCTCAATAAaagcacggacctAGATCGAGACCCGACGC chr5:168693791-Variant-C;Patient-101 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative T cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ACTAACTCGTTC CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAactaactcgttcAGATCGAGACCCGACGC chr5:169063150-Alternative-T;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Variant G cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ATAGCTGTTGGT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAatagctgttggtAGATCGAGACCCGACGC chr5:169063150-Variant-G;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Variant G cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GGTCTTAAGGTT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAggtcttaaggttAGATCGAGACCCGACGC chr5:169063150-Variant-G;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Variant G cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GTAGTAGAGTGT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAgtagtagagtgtAGATCGAGACCCGACGC chr5:169063150-Variant-G;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative T cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ACAATTGCGTCA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAacaattgcgtcaAGATCGAGACCCGACGC chr5:169063150-Alternative-T;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative T cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GACTACGCAGTC CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAgactacgcagtcAGATCGAGACCCGACGC chr5:169063150-Alternative-T;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Variant G cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc AAGAACGCTCAT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAaagaacgctcatAGATCGAGACCCGACGC chr5:169063150-Variant-G;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative T cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc CGCGAGTATAAG CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAcgcgagtataagAGATCGAGACCCGACGC chr5:169063150-Alternative-T;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Variant G cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc AGAACGCGACGA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatGaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAagaacgcgacgaAGATCGAGACCCGACGC chr5:169063150-Variant-G;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Reference A cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc AATGTCGTTCGA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAaatgtcgttcgaAGATCGAGACCCGACGC chr5:169063150-Reference-A;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative T cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ACCGGCTCCATA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatTaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAaccggctccataAGATCGAGACCCGACGC chr5:169063150-Alternative-T;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Reference A cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GTCGCATGCGAA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAgtcgcatgcgaaAGATCGAGACCCGACGC chr5:169063150-Reference-A;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Reference A cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GATAACAGACGG CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAgataacagacggAGATCGAGACCCGACGC chr5:169063150-Reference-A;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Reference A cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc AAGGTATCAAGG CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAaaggtatcaaggAGATCGAGACCCGACGC chr5:169063150-Reference-A;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Reference A cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ACAAGTATCGCT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatAaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAacaagtatcgctAGATCGAGACCCGACGC chr5:169063150-Reference-A;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative C cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ATCTGCTATGAG CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAatctgctatgagAGATCGAGACCCGACGC chr5:169063150-Alternative-C;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative C cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GGTAGCAGCATC CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAggtagcagcatcAGATCGAGACCCGACGC chr5:169063150-Alternative-C;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative C cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc CACGTTATTGTC CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAcacgttattgtcAGATCGAGACCCGACGC chr5:169063150-Alternative-C;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative C cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc GGACACATTGTT CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAggacacattgttAGATCGAGACCCGACGC chr5:169063150-Alternative-C;Patient-85 chr5:169063150-AG Inherited Patient-85 intergenic 0.00064 0.000513 0.9 12.62 1.52 DOCK2 1100 Alternative C cttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatc ACGATGCGTATA CGACGCGGTCTCTCTCTcttaatgactctccagtgtaaggcagaaaggggtagtgagagtcatgaatCaagaaagaaaactcagcaaaacttaaattcagccttatcactgtggatcAGAGGGAGACGGACGTCTCAATAAacgatgcgtataAGATCGAGACCCGACGC chr5:169063150-Alternative-C;Patient-85 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Reference G gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga AGTCCGAAGTAA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAagtccgaagtaaAGATCGAGACCCGACGC chr5:169705343-Reference-G;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Reference G gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CGATGCTCATAA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAcgatgctcataaAGATCGAGACCCGACGC chr5:169705343-Reference-G;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative T gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CTCGCTAGGTTC CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAActcgctaggttcAGATCGAGACCCGACGC chr5:169705343-Alternative-T;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Reference G gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GCAATCGGTATC CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAgcaatcggtatcAGATCGAGACCCGACGC chr5:169705343-Reference-G;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Reference G gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga ATTCACTCGGTT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAattcactcggttAGATCGAGACCCGACGC chr5:169705343-Reference-G;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative T gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga AGTACGTAGCAA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAagtacgtagcaaAGATCGAGACCCGACGC chr5:169705343-Alternative-T;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Reference G gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CAATTGCTTAGG CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaGtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAcaattgcttaggAGATCGAGACCCGACGC chr5:169705343-Reference-G;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative T gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CTTGGTCCGCTT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAActtggtccgcttAGATCGAGACCCGACGC chr5:169705343-Alternative-T;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative T gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GTAAGGAACGTT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAgtaaggaacgttAGATCGAGACCCGACGC chr5:169705343-Alternative-T;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Variant A gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CGCACTACGAGT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAcgcactacgagtAGATCGAGACCCGACGC chr5:169705343-Variant-A;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative T gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga ATCACCATGCTT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaTtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAatcaccatgcttAGATCGAGACCCGACGC chr5:169705343-Alternative-T;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Variant A gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GGACATTGAGAA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAggacattgagaaAGATCGAGACCCGACGC chr5:169705343-Variant-A;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Variant A gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GGTACTAGGTGG CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAggtactaggtggAGATCGAGACCCGACGC chr5:169705343-Variant-A;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative C gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CGTATGGTACAT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAcgtatggtacatAGATCGAGACCCGACGC chr5:169705343-Alternative-C;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Variant A gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga AACGCCGGTAAC CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAaacgccggtaacAGATCGAGACCCGACGC chr5:169705343-Variant-A;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Variant A gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga AGAAGATCATGC CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaAtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAagaagatcatgcAGATCGAGACCCGACGC chr5:169705343-Variant-A;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative C gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GGCGTACGGTTA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAggcgtacggttaAGATCGAGACCCGACGC chr5:169705343-Alternative-C;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative C gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CTCACGACAGCA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAActcacgacagcaAGATCGAGACCCGACGC chr5:169705343-Alternative-C;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative C gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga CGTTACGGCACA CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAcgttacggcacaAGATCGAGACCCGACGC chr5:169705343-Alternative-C;Patient-39 chr5:169705343-GA DeNovo Patient-39 intronic LCP2 0.000564 9.9e-05 -0.02 2.29 -0.35 LCP2 19478 Alternative C gcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcga GTTGAGTCGCGT CGACGCGGTCTCTCTCTgcatatgcaccatgcacatgcagagtggggggctggggagggggatgggaCtgcaggggggggctgggggggatgggagtgcaggggtgggggctggcgaAGAGGGAGACGGACGTCTCAATAAgttgagtcgcgtAGATCGAGACCCGACGC chr5:169705343-Alternative-C;Patient-39 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Variant G ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AACGCCGTGTGA CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAaacgccgtgtgaAGATCGAGACCCGACGC chr5:169709307-Variant-G;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Variant G ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ATTGTCTCGCGC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAattgtctcgcgcAGATCGAGACCCGACGC chr5:169709307-Variant-G;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Variant G ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CGGAGGACTCTA CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAcggaggactctaAGATCGAGACCCGACGC chr5:169709307-Variant-G;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative T ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ACGATTCGTAAC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAacgattcgtaacAGATCGAGACCCGACGC chr5:169709307-Alternative-T;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Variant G ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AAGGTTGATCGA CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAaaggttgatcgaAGATCGAGACCCGACGC chr5:169709307-Variant-G;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Variant G ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CTGTGGAGTCGT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacGagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAActgtggagtcgtAGATCGAGACCCGACGC chr5:169709307-Variant-G;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative T ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CTAGCTGCGAAG CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAActagctgcgaagAGATCGAGACCCGACGC chr5:169709307-Alternative-T;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Reference A ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AATGGCCGGCAT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAaatggccggcatAGATCGAGACCCGACGC chr5:169709307-Reference-A;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative T ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CGCATAGTACGT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAcgcatagtacgtAGATCGAGACCCGACGC chr5:169709307-Alternative-T;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Reference A ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg GAGTTAACCGAA CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAgagttaaccgaaAGATCGAGACCCGACGC chr5:169709307-Reference-A;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Reference A ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AGATTGAACGAG CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAagattgaacgagAGATCGAGACCCGACGC chr5:169709307-Reference-A;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative T ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg GATTGCGCGAAC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAgattgcgcgaacAGATCGAGACCCGACGC chr5:169709307-Alternative-T;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Reference A ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AGTTAGCCGACC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAagttagccgaccAGATCGAGACCCGACGC chr5:169709307-Reference-A;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative T ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ACGTATGGAGCG CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacTagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAacgtatggagcgAGATCGAGACCCGACGC chr5:169709307-Alternative-T;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative C ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ATATTAGGCGGT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAatattaggcggtAGATCGAGACCCGACGC chr5:169709307-Alternative-C;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Reference A ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CAAGGTGGATGC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacAagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAcaaggtggatgcAGATCGAGACCCGACGC chr5:169709307-Reference-A;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative C ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ACTGCGCGATGT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAactgcgcgatgtAGATCGAGACCCGACGC chr5:169709307-Alternative-C;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative C ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg CGCCACGAAGTT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAcgccacgaagttAGATCGAGACCCGACGC chr5:169709307-Alternative-C;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative C ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg ACGTCTGATTCT CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAacgtctgattctAGATCGAGACCCGACGC chr5:169709307-Alternative-C;Patient-91 chr5:169709307-AG Inherited Patient-91 intronic LCP2 NA 4.95e-05 0.2 5.77 2.25 LCP2 15514 Alternative C ttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacg AGTATCACGTAC CGACGCGGTCTCTCTCTttctgtacatgaacacaatttcttttccaaaggcctttggggtaatgaacCagacaaataaacttatgtacaagagatggaatgaataaagtattgaacgAGAGGGAGACGGACGTCTCAATAAagtatcacgtacAGATCGAGACCCGACGC chr5:169709307-Alternative-C;Patient-91 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative A agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGTAACCGTCAC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcgtaaccgtcacAGATCGAGACCCGACGC chr5:170119239-Alternative-A;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative A agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGACTGATACTT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcgactgatacttAGATCGAGACCCGACGC chr5:170119239-Alternative-A;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative A agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc GGTCATACGGAC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAggtcatacggacAGATCGAGACCCGACGC chr5:170119239-Alternative-A;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative A agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc ATCACGTTGACA CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAatcacgttgacaAGATCGAGACCCGACGC chr5:170119239-Alternative-A;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Reference C agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGGAATGCCAAC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcggaatgccaacAGATCGAGACCCGACGC chr5:170119239-Reference-C;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Reference C agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CTCATGATGTTC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAActcatgatgttcAGATCGAGACCCGACGC chr5:170119239-Reference-C;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Reference C agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc AGTCGCGCATCA CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAagtcgcgcatcaAGATCGAGACCCGACGC chr5:170119239-Reference-C;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Reference C agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGCAGCGCTAAT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcgcagcgctaatAGATCGAGACCCGACGC chr5:170119239-Reference-C;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Reference C agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc ACTCCAACAGAT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaCcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAactccaacagatAGATCGAGACCCGACGC chr5:170119239-Reference-C;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative A agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGGAATCGCTGA CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaAcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcggaatcgctgaAGATCGAGACCCGACGC chr5:170119239-Alternative-A;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Variant T agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc AGATCCAACCAC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAagatccaaccacAGATCGAGACCCGACGC chr5:170119239-Variant-T;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Variant T agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CGGATATATGGT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcggatatatggtAGATCGAGACCCGACGC chr5:170119239-Variant-T;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Variant T agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CACGCTCCATGA CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAcacgctccatgaAGATCGAGACCCGACGC chr5:170119239-Variant-T;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Variant T agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc GACTGCGACGAT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAgactgcgacgatAGATCGAGACCCGACGC chr5:170119239-Variant-T;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative G agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc GTCATCGAGCAA CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAgtcatcgagcaaAGATCGAGACCCGACGC chr5:170119239-Alternative-G;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Variant T agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CTCTACGGCGTT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaTcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAActctacggcgttAGATCGAGACCCGACGC chr5:170119239-Variant-T;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative G agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc ACTCGGACAAGG CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAactcggacaaggAGATCGAGACCCGACGC chr5:170119239-Alternative-G;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative G agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc ACGCTGGTATAC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAacgctggtatacAGATCGAGACCCGACGC chr5:170119239-Alternative-G;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative G agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc CTCATACACGTC CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAActcatacacgtcAGATCGAGACCCGACGC chr5:170119239-Alternative-G;Patient-87 chr5:170119239-CT Inherited Patient-87 intronic KCNIP1 6.4e-05 4.95e-05 -0.15 1.02 -2.81 GABRP 91483 Alternative G agccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggaccc AAGGCGGACGAT CGACGCGGTCTCTCTCTagccaggttgtcatcaagcagcagcaggcatggcattttatcctaaggtaGcaccacggccaaatgcaacaggaaagaagcaggctgctgggtgggacccAGAGGGAGACGGACGTCTCAATAAaaggcggacgatAGATCGAGACCCGACGC chr5:170119239-Alternative-G;Patient-87 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative A gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccct AACGTCAGGCCA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAaacgtcaggccaAGATCGAGACCCGACGC chr5:172303683-Alternative-A;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Variant T gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccct AATAACGGTCGA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAaataacggtcgaAGATCGAGACCCGACGC chr5:172303683-Variant-T;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative A gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccct ACTGGCGTGCAT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAactggcgtgcatAGATCGAGACCCGACGC chr5:172303683-Alternative-A;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative A gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccct CGGAGTGTAGTC CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAcggagtgtagtcAGATCGAGACCCGACGC chr5:172303683-Alternative-A;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative G gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GACGCTTGCCAT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgacgcttgccatAGATCGAGACCCGACGC chr5:172303683-Alternative-G;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative G gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccct CACGATGAATCG CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAcacgatgaatcgAGATCGAGACCCGACGC chr5:172303683-Alternative-G;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative A gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccct ACCTCGTGGAGA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAacctcgtggagaAGATCGAGACCCGACGC chr5:172303683-Alternative-A;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Reference C gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccct CTCGCATTACCA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAActcgcattaccaAGATCGAGACCCGACGC chr5:172303683-Reference-C;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative A gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GTTCTATCGCAG CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaAagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgttctatcgcagAGATCGAGACCCGACGC chr5:172303683-Alternative-A;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Variant T gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccct ACTTCGTTGTGT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAacttcgttgtgtAGATCGAGACCCGACGC chr5:172303683-Variant-T;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Variant T gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccct CGGAGCATGCAT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAcggagcatgcatAGATCGAGACCCGACGC chr5:172303683-Variant-T;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Reference C gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GGCAAGTTGTGG CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAggcaagttgtggAGATCGAGACCCGACGC chr5:172303683-Reference-C;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Reference C gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GAGTTAGAAGCT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgagttagaagctAGATCGAGACCCGACGC chr5:172303683-Reference-C;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative G gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GTTCGCGAACCT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgttcgcgaacctAGATCGAGACCCGACGC chr5:172303683-Alternative-G;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Variant T gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccct AAGGCGAGAACT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAaaggcgagaactAGATCGAGACCCGACGC chr5:172303683-Variant-T;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Variant T gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccct AACGTTAACCGT CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaTagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAaacgttaaccgtAGATCGAGACCCGACGC chr5:172303683-Variant-T;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative G gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GATAGACGCCGA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgatagacgccgaAGATCGAGACCCGACGC chr5:172303683-Alternative-G;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Reference C gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GGATACGCATAA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAggatacgcataaAGATCGAGACCCGACGC chr5:172303683-Reference-C;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Reference C gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GCCGTAATCGCA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaCagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAgccgtaatcgcaAGATCGAGACCCGACGC chr5:172303683-Reference-C;Patient-3 chr5:172303683-CT DeNovo Patient-3 intronic ERGIC1 NA 4.95e-05 0.12 4.6 1.49 ERGIC1 42459 Alternative G gtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccct GGATGTGCGTGA CGACGCGGTCTCTCTCTgtacaatgtgaaaaatttgacatatgtatacgtccatgaaaccatcatcaGagccaagatcatggatatctacaccacaccccaaagcttgctcctccctAGAGGGAGACGGACGTCTCAATAAggatgtgcgtgaAGATCGAGACCCGACGC chr5:172303683-Alternative-G;Patient-3 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Variant G acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GAGTATATACGG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgagtatatacggAGATCGAGACCCGACGC chr5:174842330-Variant-G;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative C acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa AATCGGCTGCGT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAaatcggctgcgtAGATCGAGACCCGACGC chr5:174842330-Alternative-C;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative C acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa AGGTAGTAACAC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAaggtagtaacacAGATCGAGACCCGACGC chr5:174842330-Alternative-C;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative C acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GTACTCAACTTC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgtactcaacttcAGATCGAGACCCGACGC chr5:174842330-Alternative-C;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative C acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa AATATTACCGGC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAaatattaccggcAGATCGAGACCCGACGC chr5:174842330-Alternative-C;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative C acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GTAAGCGACCAT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacCcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgtaagcgaccatAGATCGAGACCCGACGC chr5:174842330-Alternative-C;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative A acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GGATGTACGAAC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAggatgtacgaacAGATCGAGACCCGACGC chr5:174842330-Alternative-A;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative A acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa ACAACCGAACAG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAacaaccgaacagAGATCGAGACCCGACGC chr5:174842330-Alternative-A;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative A acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa ATTCGTACGACT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAattcgtacgactAGATCGAGACCCGACGC chr5:174842330-Alternative-A;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative A acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CGAGTGGACGAT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAcgagtggacgatAGATCGAGACCCGACGC chr5:174842330-Alternative-A;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Alternative A acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CGCTACATTGTT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacActtgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAcgctacattgttAGATCGAGACCCGACGC chr5:174842330-Alternative-A;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Reference T acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CAACGCTTCGTC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAcaacgcttcgtcAGATCGAGACCCGACGC chr5:174842330-Reference-T;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Reference T acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GCGAATGCCAAC CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgcgaatgccaacAGATCGAGACCCGACGC chr5:174842330-Reference-T;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Reference T acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GAGGTGACGTCA CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgaggtgacgtcaAGATCGAGACCCGACGC chr5:174842330-Reference-T;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Reference T acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GGAACCTGATGG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAggaacctgatggAGATCGAGACCCGACGC chr5:174842330-Reference-T;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Reference T acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CGGCTCTTACGT CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacTcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAcggctcttacgtAGATCGAGACCCGACGC chr5:174842330-Reference-T;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Variant G acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CGAGTAGGATCG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAcgagtaggatcgAGATCGAGACCCGACGC chr5:174842330-Variant-G;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Variant G acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa ATTACGCCTAAG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAattacgcctaagAGATCGAGACCCGACGC chr5:174842330-Variant-G;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Variant G acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa CTCGCACGATCA CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAActcgcacgatcaAGATCGAGACCCGACGC chr5:174842330-Variant-G;Patient-30 chr5:174842330-TG Inherited Patient-30 intergenic 0.000573 0.000513 NA NA NA DRD1 28832 Variant G acgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaa GCAACCTTCAGG CGACGCGGTCTCTCTCTacgatcaaaagcatgacattgactcatgcagttgagtttatcctcttgacGcttgcttttcatcatgagaagaacatgcctcaggtagccattgatttaaAGAGGGAGACGGACGTCTCAATAAgcaaccttcaggAGATCGAGACCCGACGC chr5:174842330-Variant-G;Patient-30 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Reference T cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggtttttt GTCGCGAATAGG CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgtcgcgaataggAGATCGAGACCCGACGC chr5:174843394-Reference-T;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Reference T cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggtttttt GTGTCTTATGCA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgtgtcttatgcaAGATCGAGACCCGACGC chr5:174843394-Reference-T;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Variant G cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggtttttt AGCGCAAGAGCA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAagcgcaagagcaAGATCGAGACCCGACGC chr5:174843394-Variant-G;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Variant G cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggtttttt GCGCATGTGAGT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgcgcatgtgagtAGATCGAGACCCGACGC chr5:174843394-Variant-G;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Variant G cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggtttttt CGTGAATTATGG CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAcgtgaattatggAGATCGAGACCCGACGC chr5:174843394-Variant-G;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative A cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggtttttt AGCAATCCGGAC CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAagcaatccggacAGATCGAGACCCGACGC chr5:174843394-Alternative-A;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative A cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggtttttt CGCAGAACGAAG CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAcgcagaacgaagAGATCGAGACCCGACGC chr5:174843394-Alternative-A;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Reference T cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggtttttt CTGAACGATGAA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAActgaacgatgaaAGATCGAGACCCGACGC chr5:174843394-Reference-T;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Reference T cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggtttttt GTGATAGTCGAA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgtgatagtcgaaAGATCGAGACCCGACGC chr5:174843394-Reference-T;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative A cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggtttttt GTTGGTATTCCT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgttggtattcctAGATCGAGACCCGACGC chr5:174843394-Alternative-A;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative A cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggtttttt AGTGAACGGAAC CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAagtgaacggaacAGATCGAGACCCGACGC chr5:174843394-Alternative-A;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative A cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggtttttt CTCTTGGTGTCG CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggAtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAActcttggtgtcgAGATCGAGACCCGACGC chr5:174843394-Alternative-A;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Reference T cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggtttttt CTAATCTCGGAA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggTtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAActaatctcggaaAGATCGAGACCCGACGC chr5:174843394-Reference-T;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Variant G cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggtttttt GGCGGCATCTTA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAggcggcatcttaAGATCGAGACCCGACGC chr5:174843394-Variant-G;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative C cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggtttttt ACACCGCATGCT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAacaccgcatgctAGATCGAGACCCGACGC chr5:174843394-Alternative-C;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative C cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggtttttt GCAGTCTTCATA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgcagtcttcataAGATCGAGACCCGACGC chr5:174843394-Alternative-C;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative C cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggtttttt CTCTGACACGGT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAActctgacacggtAGATCGAGACCCGACGC chr5:174843394-Alternative-C;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative C cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggtttttt ATAACTGGCGTT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAataactggcgttAGATCGAGACCCGACGC chr5:174843394-Alternative-C;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Alternative C cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggtttttt GTTCTGGTCACT CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggCtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAgttctggtcactAGATCGAGACCCGACGC chr5:174843394-Alternative-C;Patient-55 chr5:174843394-TG Inherited Patient-55 intergenic NA 0.000513 -0.62 0.04 -0.09 DRD1 27768 Variant G cctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggtttttt ACTAACGGTCTA CGACGCGGTCTCTCTCTcctgagtagctgtgattacaggcatgcgccaccacaaccagctagtttggGtttttttttttttttggtttttttttttgtttggtttttttggttttttAGAGGGAGACGGACGTCTCAATAAactaacggtctaAGATCGAGACCCGACGC chr5:174843394-Variant-G;Patient-55 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Variant A cagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GGAACGAACATT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAggaacgaacattAGATCGAGACCCGACGC chr5:175269116-Variant-A;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Variant A cagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt AGTGCTCTCGTC CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAagtgctctcgtcAGATCGAGACCCGACGC chr5:175269116-Variant-A;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative C cagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt AGCAGTGATAAC CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAagcagtgataacAGATCGAGACCCGACGC chr5:175269116-Alternative-C;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Variant A cagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt ACGCAGAACATA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAacgcagaacataAGATCGAGACCCGACGC chr5:175269116-Variant-A;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Variant A cagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GACTACTTCGAG CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAgactacttcgagAGATCGAGACCCGACGC chr5:175269116-Variant-A;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative C cagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CGCAAGCTATTA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAcgcaagctattaAGATCGAGACCCGACGC chr5:175269116-Alternative-C;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative C cagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CATAGCGGTCCA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAcatagcggtccaAGATCGAGACCCGACGC chr5:175269116-Alternative-C;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative C cagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CACGAAGTAACT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAcacgaagtaactAGATCGAGACCCGACGC chr5:175269116-Alternative-C;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Variant A cagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GGATGCGATAAT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagAacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAggatgcgataatAGATCGAGACCCGACGC chr5:175269116-Variant-A;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative C cagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GGTTCGGTGAAT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagCacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAggttcggtgaatAGATCGAGACCCGACGC chr5:175269116-Alternative-C;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative T cagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GTTCAAGCGTTA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAgttcaagcgttaAGATCGAGACCCGACGC chr5:175269116-Alternative-T;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative T cagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt ATTCGCGGTGCA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAattcgcggtgcaAGATCGAGACCCGACGC chr5:175269116-Alternative-T;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Reference G cagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt AGGCTTGGATAA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAaggcttggataaAGATCGAGACCCGACGC chr5:175269116-Reference-G;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Reference G cagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CAGCTACCGGTT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAcagctaccggttAGATCGAGACCCGACGC chr5:175269116-Reference-G;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative T cagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt GCAACCGATTGA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAgcaaccgattgaAGATCGAGACCCGACGC chr5:175269116-Alternative-T;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Reference G cagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt AGGACTTCGTCG CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAaggacttcgtcgAGATCGAGACCCGACGC chr5:175269116-Reference-G;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative T cagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CACTTCTGTCGG CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAcacttctgtcggAGATCGAGACCCGACGC chr5:175269116-Alternative-T;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Reference G cagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt AGATTGGCTCGA CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAagattggctcgaAGATCGAGACCCGACGC chr5:175269116-Reference-G;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Alternative T cagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt CTGAGCATCGGT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagTacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAActgagcatcggtAGATCGAGACCCGACGC chr5:175269116-Alternative-T;Patient-25 chr5:175269116-GA DeNovo Patient-25 intronic CPLX2 NA 0.00016 -0.13 1.17 -0.28 CPLX2 45505 Reference G cagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagt ACTACGCAGTAT CGACGCGGTCTCTCTCTcagagatctaagcagataatgactgtccagcatggagggccatgaaggagGacacactgctggtatggtgggagcccagaggaggagacagcaaagcagtAGAGGGAGACGGACGTCTCAATAAactacgcagtatAGATCGAGACCCGACGC chr5:175269116-Reference-G;Patient-25 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Reference G gagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AAGTACGGTGAA CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAaagtacggtgaaAGATCGAGACCCGACGC chr5:175298506-Reference-G;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Variant A gagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag ACACGGTGTTCG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAacacggtgttcgAGATCGAGACCCGACGC chr5:175298506-Variant-A;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Variant A gagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GTGCTATTCCGA CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgtgctattccgaAGATCGAGACCCGACGC chr5:175298506-Variant-A;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative C gagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GAATTGCGCCAC CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgaattgcgccacAGATCGAGACCCGACGC chr5:175298506-Alternative-C;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative C gagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AGATGCGGATAT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAagatgcggatatAGATCGAGACCCGACGC chr5:175298506-Alternative-C;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Variant A gagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GAGTCCGTGCAT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgagtccgtgcatAGATCGAGACCCGACGC chr5:175298506-Variant-A;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative C gagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GCGTACGCTACA CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgcgtacgctacaAGATCGAGACCCGACGC chr5:175298506-Alternative-C;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Variant A gagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag CTCAAGTAAGGT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAActcaagtaaggtAGATCGAGACCCGACGC chr5:175298506-Variant-A;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Reference G gagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag CATCGAGTAGAA CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAcatcgagtagaaAGATCGAGACCCGACGC chr5:175298506-Reference-G;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative C gagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AAGTTGACATGG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAaagttgacatggAGATCGAGACCCGACGC chr5:175298506-Alternative-C;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative C gagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AAGCGTACGGAG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctCgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAaagcgtacggagAGATCGAGACCCGACGC chr5:175298506-Alternative-C;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Reference G gagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag ACATCACGCAAG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAacatcacgcaagAGATCGAGACCCGACGC chr5:175298506-Reference-G;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Reference G gagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GCATAACGGTGG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgcataacggtggAGATCGAGACCCGACGC chr5:175298506-Reference-G;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative T gagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag ACTGAAGCTACG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAactgaagctacgAGATCGAGACCCGACGC chr5:175298506-Alternative-T;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Variant A gagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AACGCTGTAACT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctAgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAaacgctgtaactAGATCGAGACCCGACGC chr5:175298506-Variant-A;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative T gagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag AGGCACGCTTGT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAaggcacgcttgtAGATCGAGACCCGACGC chr5:175298506-Alternative-T;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Reference G gagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag CTTGCTCAATCA CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctGgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAActtgctcaatcaAGATCGAGACCCGACGC chr5:175298506-Reference-G;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative T gagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag CGATGGCATTCG CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAcgatggcattcgAGATCGAGACCCGACGC chr5:175298506-Alternative-T;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative T gagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GTCGCAGTACGT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAgtcgcagtacgtAGATCGAGACCCGACGC chr5:175298506-Alternative-T;Patient-26 chr5:175298506-GA DeNovo Patient-26 5 prime UTR CPLX2 NA 0.00016 2.11 20.4 3.36 CPLX2 74895 Alternative T gagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggag GGTCACCACATT CGACGCGGTCTCTCTCTgagagagagagagagagagagagagagagagagatttgaatttcccatctTgaaggggagcggtagaacgtcagggcccggctgaggggcgtgattggagAGAGGGAGACGGACGTCTCAATAAggtcaccacattAGATCGAGACCCGACGC chr5:175298506-Alternative-T;Patient-26 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative A gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GGATAGTCAAGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAggatagtcaagtAGATCGAGACCCGACGC chr5:176242708-Alternative-A;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Reference C gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CATGACCAAGTT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcatgaccaagttAGATCGAGACCCGACGC chr5:176242708-Reference-C;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative A gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt ACGATAGATGCA CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAacgatagatgcaAGATCGAGACCCGACGC chr5:176242708-Alternative-A;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Reference C gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt AGTACGTGGTGG CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAagtacgtggtggAGATCGAGACCCGACGC chr5:176242708-Reference-C;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative A gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt AGGCCATATAGA CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAaggccatatagaAGATCGAGACCCGACGC chr5:176242708-Alternative-A;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Reference C gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CGGCACGGAATA CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcggcacggaataAGATCGAGACCCGACGC chr5:176242708-Reference-C;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative A gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GCCGCAGTATCA CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAgccgcagtatcaAGATCGAGACCCGACGC chr5:176242708-Alternative-A;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Variant T gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CGTCGACTTCGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcgtcgacttcgtAGATCGAGACCCGACGC chr5:176242708-Variant-T;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Reference C gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GCCTTAGCCGAT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAgccttagccgatAGATCGAGACCCGACGC chr5:176242708-Reference-C;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative A gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GGAGATGGACGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccAgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAggagatggacgtAGATCGAGACCCGACGC chr5:176242708-Alternative-A;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Reference C gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CATCTCAACGGC CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccCgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcatctcaacggcAGATCGAGACCCGACGC chr5:176242708-Reference-C;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative G gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GCGACATCTTCT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAgcgacatcttctAGATCGAGACCCGACGC chr5:176242708-Alternative-G;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative G gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CGAATAGATGGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcgaatagatggtAGATCGAGACCCGACGC chr5:176242708-Alternative-G;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Variant T gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt ACGTAGCCAAGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAacgtagccaagtAGATCGAGACCCGACGC chr5:176242708-Variant-T;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Variant T gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt AACGCAGCAACT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAaacgcagcaactAGATCGAGACCCGACGC chr5:176242708-Variant-T;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative G gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GGAGTAGGTCGT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAggagtaggtcgtAGATCGAGACCCGACGC chr5:176242708-Alternative-G;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Variant T gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt AGCCTGCGTCAA CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAagcctgcgtcaaAGATCGAGACCCGACGC chr5:176242708-Variant-T;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Variant T gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt AACTTCCTCGAT CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccTgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAaacttcctcgatAGATCGAGACCCGACGC chr5:176242708-Variant-T;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative G gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt GGTCGAGATAGG CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAggtcgagataggAGATCGAGACCCGACGC chr5:176242708-Alternative-G;Patient-54 chr5:176242708-CT DeNovo Patient-54 intronic UNC5A 0.000319 4.95e-05 -0.04 2 -2.14 UNC5A 5147 Alternative G gggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcattt CGTGGTAACGAC CGACGCGGTCTCTCTCTgggatggcatgagttaggacagaggtggggacttaagccgcatcagggccGgagcccagacacaggagaaaaatgcatctcagtgtgagctgcttcatttAGAGGGAGACGGACGTCTCAATAAcgtggtaacgacAGATCGAGACCCGACGC chr5:176242708-Alternative-G;Patient-54 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative C ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc GGTTAGCTGTAA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAggttagctgtaaAGATCGAGACCCGACGC chr5:1768031-Alternative-C;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative C ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CATAGATACCAC CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcatagataccacAGATCGAGACCCGACGC chr5:1768031-Alternative-C;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Variant A ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CTACGGACTACG CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAActacggactacgAGATCGAGACCCGACGC chr5:1768031-Variant-A;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative T ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CTTAGCTGCGTC CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAActtagctgcgtcAGATCGAGACCCGACGC chr5:1768031-Alternative-T;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Variant A ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CATCAAGCTACC CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcatcaagctaccAGATCGAGACCCGACGC chr5:1768031-Variant-A;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Variant A ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CGGACATAACTT CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcggacataacttAGATCGAGACCCGACGC chr5:1768031-Variant-A;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Variant A ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CATCGTTACAGG CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcatcgttacaggAGATCGAGACCCGACGC chr5:1768031-Variant-A;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative C ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CAGATGGCATAA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcagatggcataaAGATCGAGACCCGACGC chr5:1768031-Alternative-C;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative C ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CGACACGCATGT CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcgacacgcatgtAGATCGAGACCCGACGC chr5:1768031-Alternative-C;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Variant A ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CTCTCGAGTATT CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcAgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAActctcgagtattAGATCGAGACCCGACGC chr5:1768031-Variant-A;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative C ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc GAGTTGGTTCTA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcCgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAgagttggttctaAGATCGAGACCCGACGC chr5:1768031-Alternative-C;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative T ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc AGCAGTGACTAA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAagcagtgactaaAGATCGAGACCCGACGC chr5:1768031-Alternative-T;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative T ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CAGTCGTGCTGA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAcagtcgtgctgaAGATCGAGACCCGACGC chr5:1768031-Alternative-T;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Reference G ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc AGTTGGTCGTAA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAagttggtcgtaaAGATCGAGACCCGACGC chr5:1768031-Reference-G;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative T ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc ACGCACCTCGTT CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAacgcacctcgttAGATCGAGACCCGACGC chr5:1768031-Alternative-T;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Reference G ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc GCGAGAGCCTAT CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAgcgagagcctatAGATCGAGACCCGACGC chr5:1768031-Reference-G;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Reference G ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CTATCGAGTTCG CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAActatcgagttcgAGATCGAGACCCGACGC chr5:1768031-Reference-G;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Reference G ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc GCATCCATTACG CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAgcatccattacgAGATCGAGACCCGACGC chr5:1768031-Reference-G;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Reference G ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc GACGTTGCACCA CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcGgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAAgacgttgcaccaAGATCGAGACCCGACGC chr5:1768031-Reference-G;Patient-25 chr5:1768031-GA DeNovo Patient-25 intergenic 3.2e-05 0.000513 -0.1 1.39 0.14 MRPL36 31924 Alternative T ctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctc CTACCGTACGAG CGACGCGGTCTCTCTCTctgcagtggaggccggcccgatgccccctccttaacccacaggggaggtcTgcccaatatccctcctcaacccgcaagggaggccggcctgatgcccctcAGAGGGAGACGGACGTCTCAATAActaccgtacgagAGATCGAGACCCGACGC chr5:1768031-Alternative-T;Patient-25 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Variant A gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt ACTCTTGGTTCA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAactcttggttcaAGATCGAGACCCGACGC chr5:177118645-Variant-A;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative C gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt ACGTTCAGACGT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAacgttcagacgtAGATCGAGACCCGACGC chr5:177118645-Alternative-C;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative C gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt AAGTAGTCACGT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAaagtagtcacgtAGATCGAGACCCGACGC chr5:177118645-Alternative-C;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative C gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt ACTCGTGACTAA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAactcgtgactaaAGATCGAGACCCGACGC chr5:177118645-Alternative-C;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative T gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt AACGTGGAACGC CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAaacgtggaacgcAGATCGAGACCCGACGC chr5:177118645-Alternative-T;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Reference G gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CTCGCACACATC CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAActcgcacacatcAGATCGAGACCCGACGC chr5:177118645-Reference-G;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative T gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GTTGATGACATC CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAgttgatgacatcAGATCGAGACCCGACGC chr5:177118645-Alternative-T;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative T gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CGGACTGTCGTT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAcggactgtcgttAGATCGAGACCCGACGC chr5:177118645-Alternative-T;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Reference G gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GGCAGTATAAGT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAggcagtataagtAGATCGAGACCCGACGC chr5:177118645-Reference-G;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative C gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GGCTACCAATAA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAggctaccaataaAGATCGAGACCCGACGC chr5:177118645-Alternative-C;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative T gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GCACCACGTAAG CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAgcaccacgtaagAGATCGAGACCCGACGC chr5:177118645-Alternative-T;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Reference G gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CGGTCCAAGACA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAcggtccaagacaAGATCGAGACCCGACGC chr5:177118645-Reference-G;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative C gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CACAGACAAGGT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcCtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAcacagacaaggtAGATCGAGACCCGACGC chr5:177118645-Alternative-C;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Reference G gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt ACCGTAGGATAA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAaccgtaggataaAGATCGAGACCCGACGC chr5:177118645-Reference-G;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Reference G gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GGACGCTCAGTT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcGtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAggacgctcagttAGATCGAGACCCGACGC chr5:177118645-Reference-G;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Variant A gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GTTGGCCGTACT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAgttggccgtactAGATCGAGACCCGACGC chr5:177118645-Variant-A;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Alternative T gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CTGGCGTCTTCT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcTtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAActggcgtcttctAGATCGAGACCCGACGC chr5:177118645-Alternative-T;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Variant A gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt GATCAACATGCT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAgatcaacatgctAGATCGAGACCCGACGC chr5:177118645-Variant-A;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Variant A gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt CTATCAGGTCGA CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAActatcaggtcgaAGATCGAGACCCGACGC chr5:177118645-Variant-A;Patient-8 chr5:177118645-GA Inherited Patient-8 intergenic NA 0.000512821 -0.01 2.53 0 B4GALT7 91525 Variant A gatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggctt ACAGCTTGCGCT CGACGCGGTCTCTCTCTgatgattgccatgaggcatccattggcctaggtccccctcttaaacctgcAtttttggtgtgtgtgtaagtggtgtagtcgaatccagactattgggcttAGAGGGAGACGGACGTCTCAATAAacagcttgcgctAGATCGAGACCCGACGC chr5:177118645-Variant-A;Patient-8 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative C ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag ATCGACCGAATC CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAatcgaccgaatcAGATCGAGACCCGACGC chr5:177348368-Alternative-C;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Reference A ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CTACACACAGGT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAActacacacaggtAGATCGAGACCCGACGC chr5:177348368-Reference-A;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative C ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CAACTCCTAGCT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAcaactcctagctAGATCGAGACCCGACGC chr5:177348368-Alternative-C;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Reference A ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GATTACCACGCG CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgattaccacgcgAGATCGAGACCCGACGC chr5:177348368-Reference-A;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative C ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CTAATGACCAAC CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAActaatgaccaacAGATCGAGACCCGACGC chr5:177348368-Alternative-C;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Reference A ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag AACGCTCCGTGA CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAaacgctccgtgaAGATCGAGACCCGACGC chr5:177348368-Reference-A;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative C ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GTGCTCTCGTAC CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgtgctctcgtacAGATCGAGACCCGACGC chr5:177348368-Alternative-C;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Variant G ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag ATCTGCGAACTT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAatctgcgaacttAGATCGAGACCCGACGC chr5:177348368-Variant-G;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Variant G ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CGGCACGAGATA CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAcggcacgagataAGATCGAGACCCGACGC chr5:177348368-Variant-G;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative C ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag ACGACGCTAAGG CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataCtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAacgacgctaaggAGATCGAGACCCGACGC chr5:177348368-Alternative-C;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Variant G ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GTCTCGGCAAGT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgtctcggcaagtAGATCGAGACCCGACGC chr5:177348368-Variant-G;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Reference A ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GGCGAGAATCGT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAggcgagaatcgtAGATCGAGACCCGACGC chr5:177348368-Reference-A;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Variant G ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GTGTAGATACGA CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgtgtagatacgaAGATCGAGACCCGACGC chr5:177348368-Variant-G;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Variant G ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CGCGTCGAATGT CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataGtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAcgcgtcgaatgtAGATCGAGACCCGACGC chr5:177348368-Variant-G;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative T ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CGATTGCGGCAA CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAcgattgcggcaaAGATCGAGACCCGACGC chr5:177348368-Alternative-T;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative T ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GGTCGTCGCATA CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAggtcgtcgcataAGATCGAGACCCGACGC chr5:177348368-Alternative-T;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative T ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GTTGACACCAAG CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgttgacaccaagAGATCGAGACCCGACGC chr5:177348368-Alternative-T;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative T ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag GTACTAATGTGG CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAgtactaatgtggAGATCGAGACCCGACGC chr5:177348368-Alternative-T;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Alternative T ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag CGCTTAGATCGG CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataTtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAcgcttagatcggAGATCGAGACCCGACGC chr5:177348368-Alternative-T;Patient-10 chr5:177348368-AG DeNovo Patient-10 intergenic 0.000127 0.000513 0.35 7.78 1.73 PROP1 74874 Reference A ctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagag AATAAGGCCGGC CGACGCGGTCTCTCTCTctttttgatctatcaaaacaacctcattgttctcaatgactgaccttataAtaagtaaatgttatagaacatacagtgtcattttccttttccagtagagAGAGGGAGACGGACGTCTCAATAAaataaggccggcAGATCGAGACCCGACGC chr5:177348368-Reference-A;Patient-10 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Reference C gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CTGTCGTCGACT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAActgtcgtcgactAGATCGAGACCCGACGC chr5:178925084-Reference-C;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Reference C gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CGACAGCTAACT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAcgacagctaactAGATCGAGACCCGACGC chr5:178925084-Reference-C;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Reference C gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CGACATCACGCA CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAcgacatcacgcaAGATCGAGACCCGACGC chr5:178925084-Reference-C;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative G gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GTGTAGATAGCA CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgtgtagatagcaAGATCGAGACCCGACGC chr5:178925084-Alternative-G;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative G gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GATCGTAGAGCG CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgatcgtagagcgAGATCGAGACCCGACGC chr5:178925084-Alternative-G;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative G gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GTCGATAGTTGT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgtcgatagttgtAGATCGAGACCCGACGC chr5:178925084-Alternative-G;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative G gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CTACACGCATAT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAActacacgcatatAGATCGAGACCCGACGC chr5:178925084-Alternative-G;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative G gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaagga AGCAGGTACGTT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcGtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAagcaggtacgttAGATCGAGACCCGACGC chr5:178925084-Alternative-G;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative T gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaagga ACTAGTCTTGTC CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAactagtcttgtcAGATCGAGACCCGACGC chr5:178925084-Alternative-T;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative T gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GCGGCTCATTGA CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgcggctcattgaAGATCGAGACCCGACGC chr5:178925084-Alternative-T;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative T gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaagga ATCCTAGATACG CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAatcctagatacgAGATCGAGACCCGACGC chr5:178925084-Alternative-T;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Reference C gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GCGCTAATATGT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgcgctaatatgtAGATCGAGACCCGACGC chr5:178925084-Reference-C;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Variant A gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CACGTTGGATCG CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAcacgttggatcgAGATCGAGACCCGACGC chr5:178925084-Variant-A;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative T gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CAGCGTAGTCGT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAcagcgtagtcgtAGATCGAGACCCGACGC chr5:178925084-Alternative-T;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Variant A gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaagga AGCACCATGACT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAagcaccatgactAGATCGAGACCCGACGC chr5:178925084-Variant-A;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Alternative T gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaagga ACACGCATACCA CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcTtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAacacgcataccaAGATCGAGACCCGACGC chr5:178925084-Alternative-T;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Variant A gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaagga GATTCTGTGCGG CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAgattctgtgcggAGATCGAGACCCGACGC chr5:178925084-Variant-A;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Reference C gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaagga CAATGATGGAAC CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcCtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAcaatgatggaacAGATCGAGACCCGACGC chr5:178925084-Reference-C;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Variant A gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaagga AGCATCAACACT CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAagcatcaacactAGATCGAGACCCGACGC chr5:178925084-Variant-A;Patient-55 chr5:178925084-CA Inherited Patient-55 intergenic NA 0.000513 -0.01 2.5 -0.47 RUFY1 52477 Variant A gcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaagga AACCGGCGTGAA CGACGCGGTCTCTCTCTgcccatctggcagtgcaggcctcctctctgggctcggctccactgagagcAtcgagggagccgttataattgggccgctcccttccaggatcgggaaggaAGAGGGAGACGGACGTCTCAATAAaaccggcgtgaaAGATCGAGACCCGACGC chr5:178925084-Variant-A;Patient-55 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative A tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact ACGCTTCAGACA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAacgcttcagacaAGATCGAGACCCGACGC chr5:179081265-Alternative-A;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative A tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact CTCAATACAACC CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAActcaatacaaccAGATCGAGACCCGACGC chr5:179081265-Alternative-A;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Reference C tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact CAACCGAATTCG CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAcaaccgaattcgAGATCGAGACCCGACGC chr5:179081265-Reference-C;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative A tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact AAGTTAATGCGC CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAaagttaatgcgcAGATCGAGACCCGACGC chr5:179081265-Alternative-A;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Variant T tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact AGTTGATCCGTT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAagttgatccgttAGATCGAGACCCGACGC chr5:179081265-Variant-T;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Reference C tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact AATCAACCAACC CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAaatcaaccaaccAGATCGAGACCCGACGC chr5:179081265-Reference-C;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Reference C tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact AATGACTTCGCA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAaatgacttcgcaAGATCGAGACCCGACGC chr5:179081265-Reference-C;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative A tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact CGCGAACTTGCT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAcgcgaacttgctAGATCGAGACCCGACGC chr5:179081265-Alternative-A;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative A tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact ATCCTACACGAA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacAccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAatcctacacgaaAGATCGAGACCCGACGC chr5:179081265-Alternative-A;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Reference C tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GTCGCACGAATT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAgtcgcacgaattAGATCGAGACCCGACGC chr5:179081265-Reference-C;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Reference C tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact CGTCACTATTCT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacCccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAcgtcactattctAGATCGAGACCCGACGC chr5:179081265-Reference-C;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative G tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact AATAACGCGCAT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAaataacgcgcatAGATCGAGACCCGACGC chr5:179081265-Alternative-G;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative G tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact ATACCAAGTTCG CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAataccaagttcgAGATCGAGACCCGACGC chr5:179081265-Alternative-G;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative G tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GGTCAACACGAG CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAggtcaacacgagAGATCGAGACCCGACGC chr5:179081265-Alternative-G;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative G tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GATGTTGCACAT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAgatgttgcacatAGATCGAGACCCGACGC chr5:179081265-Alternative-G;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Variant T tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact CGTAACACGGTT CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAcgtaacacggttAGATCGAGACCCGACGC chr5:179081265-Variant-T;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Variant T tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact ACCTTCGACCTA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAaccttcgacctaAGATCGAGACCCGACGC chr5:179081265-Variant-T;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Variant T tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GGAACATCGTTA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAggaacatcgttaAGATCGAGACCCGACGC chr5:179081265-Variant-T;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Variant T tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GACCATCAACGA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacTccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAgaccatcaacgaAGATCGAGACCCGACGC chr5:179081265-Variant-T;Patient-89 chr5:179081265-CT Inherited Patient-89 intergenic 0.000164 0.000513 -0.22 0.64 0 HNRNPH1 30542 Alternative G tccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcact GTGACGCACCTA CGACGCGGTCTCTCTCTtccgcccgcctcggcctctcaaagtgttgggataacaggcgttgagccacGccgcccagccttttcatttgtttgtttgtttgtctgagacagtctcactAGAGGGAGACGGACGTCTCAATAAgtgacgcacctaAGATCGAGACCCGACGC chr5:179081265-Alternative-G;Patient-89 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative A gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CGGTCCATAGCA CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAcggtccatagcaAGATCGAGACCCGACGC chr5:179085208-Alternative-A;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Reference C gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa ACCGCCTTATGG CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAaccgccttatggAGATCGAGACCCGACGC chr5:179085208-Reference-C;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Reference C gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CGGTCGGATAGT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAcggtcggatagtAGATCGAGACCCGACGC chr5:179085208-Reference-C;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative A gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa ATCAATTGGCGC CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAatcaattggcgcAGATCGAGACCCGACGC chr5:179085208-Alternative-A;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Reference C gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CACGCACCACAT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAcacgcaccacatAGATCGAGACCCGACGC chr5:179085208-Reference-C;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Variant T gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CAGTCGGCGATT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAcagtcggcgattAGATCGAGACCCGACGC chr5:179085208-Variant-T;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Reference C gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa ACAGCTACGAAT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAacagctacgaatAGATCGAGACCCGACGC chr5:179085208-Reference-C;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Variant T gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GTAAGCGTGCGA CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAgtaagcgtgcgaAGATCGAGACCCGACGC chr5:179085208-Variant-T;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative G gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa AAGTCGATTCCA CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAaagtcgattccaAGATCGAGACCCGACGC chr5:179085208-Alternative-G;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Variant T gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa ACTAAGTACCGT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAactaagtaccgtAGATCGAGACCCGACGC chr5:179085208-Variant-T;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Reference C gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CGTATGAAGTCT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggCttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAcgtatgaagtctAGATCGAGACCCGACGC chr5:179085208-Reference-C;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative G gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GCATAACGCTTA CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAgcataacgcttaAGATCGAGACCCGACGC chr5:179085208-Alternative-G;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative G gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CTTGGTCGTTAT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAActtggtcgttatAGATCGAGACCCGACGC chr5:179085208-Alternative-G;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative A gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GTATCGTTGGAT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAgtatcgttggatAGATCGAGACCCGACGC chr5:179085208-Alternative-A;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative G gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CTTGCCGAGCTA CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAActtgccgagctaAGATCGAGACCCGACGC chr5:179085208-Alternative-G;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative A gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GGATCTACGGTT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAggatctacggttAGATCGAGACCCGACGC chr5:179085208-Alternative-A;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative A gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GGTAATCGAAGG CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggAttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAggtaatcgaaggAGATCGAGACCCGACGC chr5:179085208-Alternative-A;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Variant T gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa ATTGATGGACCT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAattgatggacctAGATCGAGACCCGACGC chr5:179085208-Variant-T;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Variant T gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa CTTGTCTGACAT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggTttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAActtgtctgacatAGATCGAGACCCGACGC chr5:179085208-Variant-T;Patient-4 chr5:179085208-CT DeNovo Patient-4 intergenic NA 0.000513 0.41 8.49 0.75 HNRNPH1 34485 Alternative G gtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaa GAGTATGCCGCT CGACGCGGTCTCTCTCTgtcgaggcgtgtattattttgatccagtgcgcgtgccgtatgtgacttggGttggcttcccctgaaagcagcggctgtggggagttgattcggaagtgaaAGAGGGAGACGGACGTCTCAATAAgagtatgccgctAGATCGAGACCCGACGC chr5:179085208-Alternative-G;Patient-4 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative C atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc ACGCATCGTGCA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAacgcatcgtgcaAGATCGAGACCCGACGC chr5:179137817-Alternative-C;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative C atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc ATCGCGGTAGAT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAatcgcggtagatAGATCGAGACCCGACGC chr5:179137817-Alternative-C;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative T atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CTTGCATGCGCA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAActtgcatgcgcaAGATCGAGACCCGACGC chr5:179137817-Alternative-T;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative T atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc AATAGCCGTGAA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAaatagccgtgaaAGATCGAGACCCGACGC chr5:179137817-Alternative-T;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative T atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CAGGCGTATGCA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAcaggcgtatgcaAGATCGAGACCCGACGC chr5:179137817-Alternative-T;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative T atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CGTTGCACAACG CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAcgttgcacaacgAGATCGAGACCCGACGC chr5:179137817-Alternative-T;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Variant A atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GGTCAACGTGCT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAggtcaacgtgctAGATCGAGACCCGACGC chr5:179137817-Variant-A;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Variant A atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GACGATAGTAGT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAgacgatagtagtAGATCGAGACCCGACGC chr5:179137817-Variant-A;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative C atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc ACGTATCGATGC CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAacgtatcgatgcAGATCGAGACCCGACGC chr5:179137817-Alternative-C;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative T atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CTGAGCAACGAG CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagTctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAActgagcaacgagAGATCGAGACCCGACGC chr5:179137817-Alternative-T;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative C atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc AGTTCTGTAGGT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAagttctgtaggtAGATCGAGACCCGACGC chr5:179137817-Alternative-C;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Alternative C atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GAGTTGCTTGAT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagCctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAgagttgcttgatAGATCGAGACCCGACGC chr5:179137817-Alternative-C;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Variant A atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CGGATGACTAAT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAcggatgactaatAGATCGAGACCCGACGC chr5:179137817-Variant-A;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Variant A atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GTCATAGCGATA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAgtcatagcgataAGATCGAGACCCGACGC chr5:179137817-Variant-A;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Variant A atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GCGATTCTGACG CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagActgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAgcgattctgacgAGATCGAGACCCGACGC chr5:179137817-Variant-A;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Reference G atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc AACAATAGCGCA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAaacaatagcgcaAGATCGAGACCCGACGC chr5:179137817-Reference-G;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Reference G atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CGCTACGAGCAA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAcgctacgagcaaAGATCGAGACCCGACGC chr5:179137817-Reference-G;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Reference G atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CGGACATTCAGT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAcggacattcagtAGATCGAGACCCGACGC chr5:179137817-Reference-G;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Reference G atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc GGCGTGGTAAGA CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAAggcgtggtaagaAGATCGAGACCCGACGC chr5:179137817-Reference-G;Patient-76 chr5:179137817-GA Inherited Patient-76 intronic CANX 0.000417 4.95e-05 -0.02 2.35 0.24 CANX 11886 Reference G atctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggcc CTTGACATCGAT CGACGCGGTCTCTCTCTatctcagcctggtatggttgctcatgcgtgtaatcccagcactttgggagGctgaggcgggcggatcacttgagatcaggcattcgagactagcatggccAGAGGGAGACGGACGTCTCAATAActtgacatcgatAGATCGAGACCCGACGC chr5:179137817-Reference-G;Patient-76 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Variant G agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CTATACGCTCTA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAActatacgctctaAGATCGAGACCCGACGC chr5:180620109-Variant-G;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Variant G agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac AGACGTAAGCCA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAagacgtaagccaAGATCGAGACCCGACGC chr5:180620109-Variant-G;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Reference T agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CTAACCGATAAC CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAActaaccgataacAGATCGAGACCCGACGC chr5:180620109-Reference-T;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Reference T agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CAAGACCGATAA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAcaagaccgataaAGATCGAGACCCGACGC chr5:180620109-Reference-T;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative C agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac AGGAGTAGCGGT CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAaggagtagcggtAGATCGAGACCCGACGC chr5:180620109-Alternative-C;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Reference T agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GCGTTACCATGG CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgcgttaccatggAGATCGAGACCCGACGC chr5:180620109-Reference-T;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Reference T agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac AACCGGACGAAG CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAaaccggacgaagAGATCGAGACCCGACGC chr5:180620109-Reference-T;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Reference T agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CACGAGAGTACC CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaTttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAcacgagagtaccAGATCGAGACCCGACGC chr5:180620109-Reference-T;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative A agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GCAAGCAGTAAG CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgcaagcagtaagAGATCGAGACCCGACGC chr5:180620109-Alternative-A;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative A agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GTCTATTGGACA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgtctattggacaAGATCGAGACCCGACGC chr5:180620109-Alternative-A;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Variant G agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GATACACGTACG CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgatacacgtacgAGATCGAGACCCGACGC chr5:180620109-Variant-G;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Variant G agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GATCGTGACCGT CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgatcgtgaccgtAGATCGAGACCCGACGC chr5:180620109-Variant-G;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative A agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac AGCATGGTTCAT CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAagcatggttcatAGATCGAGACCCGACGC chr5:180620109-Alternative-A;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative C agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GATTCTGACGCG CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgattctgacgcgAGATCGAGACCCGACGC chr5:180620109-Alternative-C;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Variant G agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CGTCCAACACGA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaGttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAcgtccaacacgaAGATCGAGACCCGACGC chr5:180620109-Variant-G;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative A agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CAGATCCAAGAA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAcagatccaagaaAGATCGAGACCCGACGC chr5:180620109-Alternative-A;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative C agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac ATTGGTAGCGAT CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAattggtagcgatAGATCGAGACCCGACGC chr5:180620109-Alternative-C;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative C agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac GTACTTGCCTTA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAgtacttgccttaAGATCGAGACCCGACGC chr5:180620109-Alternative-C;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative A agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac CGGACAACTCCT CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaAttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAcggacaactcctAGATCGAGACCCGACGC chr5:180620109-Alternative-A;Patient-69 chr5:180620109-TG DeNovo Patient-69 intergenic 3.2e-05 0.00103 0.01 2.7 0.96 RACK1 50796 Alternative C agacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatac ACTAGTGCAAGA CGACGCGGTCTCTCTCTagacatggtactttctgggacctgtaatgtgtgttgtgatgcccagcacaCttgttggatggtacaaagggaattatgatacttaatcaaaaagccatacAGAGGGAGACGGACGTCTCAATAAactagtgcaagaAGATCGAGACCCGACGC chr5:180620109-Alternative-C;Patient-69 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Variant C ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc AGAGCATCTTGT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAagagcatcttgtAGATCGAGACCCGACGC chr5:180644001-Variant-C;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Variant C ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GTGTATCACAAC CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgtgtatcacaacAGATCGAGACCCGACGC chr5:180644001-Variant-C;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Variant C ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc ACCTTGGTTGCA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAaccttggttgcaAGATCGAGACCCGACGC chr5:180644001-Variant-C;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative G ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc ACATGTCACGAC CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAacatgtcacgacAGATCGAGACCCGACGC chr5:180644001-Alternative-G;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative G ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc ACGCTCCGAATA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAacgctccgaataAGATCGAGACCCGACGC chr5:180644001-Alternative-G;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Reference T ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc CGAGTCGTAAGG CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAcgagtcgtaaggAGATCGAGACCCGACGC chr5:180644001-Reference-T;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative A ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc AGCAACTAAGCA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAagcaactaagcaAGATCGAGACCCGACGC chr5:180644001-Alternative-A;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative G ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc CTGTGTGGACGT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAActgtgtggacgtAGATCGAGACCCGACGC chr5:180644001-Alternative-G;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Reference T ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GATGTTGCTGCG CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgatgttgctgcgAGATCGAGACCCGACGC chr5:180644001-Reference-T;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative G ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GGATATGTCGTT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAggatatgtcgttAGATCGAGACCCGACGC chr5:180644001-Alternative-G;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative A ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc AACTCGGTCATA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAaactcggtcataAGATCGAGACCCGACGC chr5:180644001-Alternative-A;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Reference T ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc ACACTTACCGGC CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAacacttaccggcAGATCGAGACCCGACGC chr5:180644001-Reference-T;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative A ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GCGGCTTCTGAA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgcggcttctgaaAGATCGAGACCCGACGC chr5:180644001-Alternative-A;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative G ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GCACGTAGGCTT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccGcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgcacgtaggcttAGATCGAGACCCGACGC chr5:180644001-Alternative-G;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Reference T ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc CTCTAGCGTCGT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAActctagcgtcgtAGATCGAGACCCGACGC chr5:180644001-Reference-T;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Variant C ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GTAGATTCGGTT CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgtagattcggttAGATCGAGACCCGACGC chr5:180644001-Variant-C;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative A ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc CAACACGAAGCA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAcaacacgaagcaAGATCGAGACCCGACGC chr5:180644001-Alternative-A;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Alternative A ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc GATCGTACATCA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccAcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAgatcgtacatcaAGATCGAGACCCGACGC chr5:180644001-Alternative-A;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Reference T ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc AGAAGAGTACGA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccTcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAagaagagtacgaAGATCGAGACCCGACGC chr5:180644001-Reference-T;Patient-54 chr5:180644001-TC Inherited Patient-54 intergenic 0.000588 0.000512821 0.19 5.63 0.24 RACK1 26904 Variant C ctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggc AACGCTCTAACA CGACGCGGTCTCTCTCTctcggtgcccaggctggagtgcagtggcgcgatcatggctcgctgcagccCcgacctagggtagtaactggaactgcaggtatgcaccaccacgctcggcAGAGGGAGACGGACGTCTCAATAAaacgctctaacaAGATCGAGACCCGACGC chr5:180644001-Variant-C;Patient-54 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative T ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GCCGGACTTCAT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAgccggacttcatAGATCGAGACCCGACGC chr5:1858572-Alternative-T;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative T ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GGATACTTAGCT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAggatacttagctAGATCGAGACCCGACGC chr5:1858572-Alternative-T;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative T ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct CATCACACGTCC CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAcatcacacgtccAGATCGAGACCCGACGC chr5:1858572-Alternative-T;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative T ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct CTTGACCGGCAT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAActtgaccggcatAGATCGAGACCCGACGC chr5:1858572-Alternative-T;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative T ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct ACTGAAGTCCGG CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaTggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAactgaagtccggAGATCGAGACCCGACGC chr5:1858572-Alternative-T;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative A ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct ACACGATCTTCT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAacacgatcttctAGATCGAGACCCGACGC chr5:1858572-Alternative-A;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative A ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct CTCTCTGCCACT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAActctctgccactAGATCGAGACCCGACGC chr5:1858572-Alternative-A;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative A ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct AGATCAACACGA CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAagatcaacacgaAGATCGAGACCCGACGC chr5:1858572-Alternative-A;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative A ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GGCCATTATCCT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAggccattatcctAGATCGAGACCCGACGC chr5:1858572-Alternative-A;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Alternative A ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GGCTAAGATCGG CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaAggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAggctaagatcggAGATCGAGACCCGACGC chr5:1858572-Alternative-A;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Variant C ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct CGTTGACCAACG CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAcgttgaccaacgAGATCGAGACCCGACGC chr5:1858572-Variant-C;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Reference G ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct AATAGGCTTGTC CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAaataggcttgtcAGATCGAGACCCGACGC chr5:1858572-Reference-G;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Reference G ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct AGCAGTACGGCA CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAagcagtacggcaAGATCGAGACCCGACGC chr5:1858572-Reference-G;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Reference G ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct CGCATTAGACAT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAcgcattagacatAGATCGAGACCCGACGC chr5:1858572-Reference-G;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Variant C ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GAATCAGCGTCT CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAgaatcagcgtctAGATCGAGACCCGACGC chr5:1858572-Variant-C;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Reference G ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GATAGACGGTCG CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAgatagacggtcgAGATCGAGACCCGACGC chr5:1858572-Reference-G;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Reference G ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct GGATCGTGATCA CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaGggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAggatcgtgatcaAGATCGAGACCCGACGC chr5:1858572-Reference-G;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Variant C ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct AACAACGAGGCG CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAaacaacgaggcgAGATCGAGACCCGACGC chr5:1858572-Variant-C;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Variant C ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct ATCCGGACCTAC CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAatccggacctacAGATCGAGACCCGACGC chr5:1858572-Variant-C;Patient-61 chr5:1858572-GC Inherited Patient-61 intergenic 0.000734 0.179 -0.59 0.05 -1.03 NDUFS6 57075 Variant C ggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagct AAGTCAAGATGC CGACGCGGTCTCTCTCTggttgcagggtgacccgaggtcatgtaggcaaggtcaaaggacgatgtgaCggttgcagggtgacccgaggccagcagtcctttgcagagtggatgagctAGAGGGAGACGGACGTCTCAATAAaagtcaagatgcAGATCGAGACCCGACGC chr5:1858572-Variant-C;Patient-61 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative T tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GTAGCTAAGGAT CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAgtagctaaggatAGATCGAGACCCGACGC chr5:1920124-Alternative-T;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative T tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GCAGTTGACATC CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAgcagttgacatcAGATCGAGACCCGACGC chr5:1920124-Alternative-T;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative T tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa ACCTGGCGAATC CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAacctggcgaatcAGATCGAGACCCGACGC chr5:1920124-Alternative-T;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative T tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CTATCGTTCTGA CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAActatcgttctgaAGATCGAGACCCGACGC chr5:1920124-Alternative-T;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative T tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa ACGAGCCATACT CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaTcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAacgagccatactAGATCGAGACCCGACGC chr5:1920124-Alternative-T;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative G tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GCCAATCATCAA CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAgccaatcatcaaAGATCGAGACCCGACGC chr5:1920124-Alternative-G;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative G tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GGTTGATTACCA CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAggttgattaccaAGATCGAGACCCGACGC chr5:1920124-Alternative-G;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative G tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa ACGTGGAACGAC CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAacgtggaacgacAGATCGAGACCCGACGC chr5:1920124-Alternative-G;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative G tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CGTGCGATAATT CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAcgtgcgataattAGATCGAGACCCGACGC chr5:1920124-Alternative-G;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Reference C tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CTCTCGGAGCAA CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAActctcggagcaaAGATCGAGACCCGACGC chr5:1920124-Reference-C;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Alternative G tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CATAACATCTGG CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaGcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAcataacatctggAGATCGAGACCCGACGC chr5:1920124-Alternative-G;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Reference C tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GATCCTTCACCG CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAgatccttcaccgAGATCGAGACCCGACGC chr5:1920124-Reference-C;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Variant A tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa ATTGCGTGTCTT CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAattgcgtgtcttAGATCGAGACCCGACGC chr5:1920124-Variant-A;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Variant A tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa AGCGTACGAGCA CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAagcgtacgagcaAGATCGAGACCCGACGC chr5:1920124-Variant-A;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Reference C tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa AATGACCACGTC CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAaatgaccacgtcAGATCGAGACCCGACGC chr5:1920124-Reference-C;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Variant A tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa GCAACGCATTAT CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAgcaacgcattatAGATCGAGACCCGACGC chr5:1920124-Variant-A;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Reference C tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CGCCTAATATCG CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAcgcctaatatcgAGATCGAGACCCGACGC chr5:1920124-Reference-C;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Variant A tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CTCTCGACTAAC CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAActctcgactaacAGATCGAGACCCGACGC chr5:1920124-Variant-A;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Reference C tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa CGCTACATCAAG CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaCcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAcgctacatcaagAGATCGAGACCCGACGC chr5:1920124-Reference-C;Patient-78 chr5:1920124-CA DeNovo Patient-78 intergenic NA 0.000513 -0.3 0.37 -1.34 IRX4 32830 Variant A tttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaa AGAGTTAGCCGG CGACGCGGTCTCTCTCTtttcctaagtgtgcttcacagtcctggtgtggctgctgaggctgcagccaAcacctctgcattccaggcaagaggtgggaaaagtgggaggaagacaaaaAGAGGGAGACGGACGTCTCAATAAagagttagccggAGATCGAGACCCGACGC chr5:1920124-Variant-A;Patient-78 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative C gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GGCTGATCGTGT CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAggctgatcgtgtAGATCGAGACCCGACGC chr5:19957005-Alternative-C;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Variant A gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GGAACTCCTACC CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAggaactcctaccAGATCGAGACCCGACGC chr5:19957005-Variant-A;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Variant A gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg ATACGCTTCGTT CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAatacgcttcgttAGATCGAGACCCGACGC chr5:19957005-Variant-A;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative C gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg CTAGCGTTGTGG CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAActagcgttgtggAGATCGAGACCCGACGC chr5:19957005-Alternative-C;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Variant A gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg AGCACCAATTGC CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAagcaccaattgcAGATCGAGACCCGACGC chr5:19957005-Variant-A;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative C gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GAGTCATAGCTA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAgagtcatagctaAGATCGAGACCCGACGC chr5:19957005-Alternative-C;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Variant A gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GCGTCTGGTGAT CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAgcgtctggtgatAGATCGAGACCCGACGC chr5:19957005-Variant-A;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Variant A gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg AACGTTGGATGA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaAagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAaacgttggatgaAGATCGAGACCCGACGC chr5:19957005-Variant-A;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative T gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg CGTGAAGTGACA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAcgtgaagtgacaAGATCGAGACCCGACGC chr5:19957005-Alternative-T;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative T gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GAGTGCTCTCGA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAgagtgctctcgaAGATCGAGACCCGACGC chr5:19957005-Alternative-T;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative C gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg AACCGATTGCAT CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAaaccgattgcatAGATCGAGACCCGACGC chr5:19957005-Alternative-C;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative T gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg GTATCGTGACGA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAgtatcgtgacgaAGATCGAGACCCGACGC chr5:19957005-Alternative-T;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative T gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg ATCTGGCATGAA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAatctggcatgaaAGATCGAGACCCGACGC chr5:19957005-Alternative-T;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative C gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg ACCAATAGGTTC CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaCagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAaccaataggttcAGATCGAGACCCGACGC chr5:19957005-Alternative-C;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Reference G gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg CAAGTTAGGAGA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAcaagttaggagaAGATCGAGACCCGACGC chr5:19957005-Reference-G;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Alternative T gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg AGTGATAGACAC CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaTagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAagtgatagacacAGATCGAGACCCGACGC chr5:19957005-Alternative-T;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Reference G gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg CAGTTGACGGAA CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAcagttgacggaaAGATCGAGACCCGACGC chr5:19957005-Reference-G;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Reference G gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg AGCATAACGGCG CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAagcataacggcgAGATCGAGACCCGACGC chr5:19957005-Reference-G;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Reference G gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg ATCATGCCTGAT CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAatcatgcctgatAGATCGAGACCCGACGC chr5:19957005-Reference-G;Patient-55 chr5:19957005-GA Inherited Patient-55 intronic CDH18 0.000383 0.000958 0.21 6.05 -1.17 CDH18 31347 Reference G gtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtg CATTGAAGGACG CGACGCGGTCTCTCTCTgtcatgcataattcgtataagaatctcaagagcagaaaactgtgaactaaGagtaccttagtaaaatcccaagtagtagaggtggatgtaaatctatgtgAGAGGGAGACGGACGTCTCAATAAcattgaaggacgAGATCGAGACCCGACGC chr5:19957005-Reference-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative G ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc GAGCATTCCAAG CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAgagcattccaagAGATCGAGACCCGACGC chr5:27079876-Alternative-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative G ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AAGTGAGCTGAT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAaagtgagctgatAGATCGAGACCCGACGC chr5:27079876-Alternative-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative G ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGGTATGTGAGT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAaggtatgtgagtAGATCGAGACCCGACGC chr5:27079876-Alternative-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Reference T ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc CTAAGGTGCGTC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAActaaggtgcgtcAGATCGAGACCCGACGC chr5:27079876-Reference-T;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative G ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGCATTGACGAA CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAagcattgacgaaAGATCGAGACCCGACGC chr5:27079876-Alternative-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Reference T ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGCAGTGCTTCG CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAagcagtgcttcgAGATCGAGACCCGACGC chr5:27079876-Reference-T;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Reference T ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGCCGGTTGTTC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAagccggttgttcAGATCGAGACCCGACGC chr5:27079876-Reference-T;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Reference T ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc CGTTAGGATTCG CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAcgttaggattcgAGATCGAGACCCGACGC chr5:27079876-Reference-T;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Reference T ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc CGTCGTGTTATT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcTccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAcgtcgtgttattAGATCGAGACCCGACGC chr5:27079876-Reference-T;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative G ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGTAACGCGATT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcGccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAagtaacgcgattAGATCGAGACCCGACGC chr5:27079876-Alternative-G;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative C ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AGCAAGTGACGA CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAagcaagtgacgaAGATCGAGACCCGACGC chr5:27079876-Alternative-C;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Variant A ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc ACGGCATATAAG CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAacggcatataagAGATCGAGACCCGACGC chr5:27079876-Variant-A;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Variant A ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AAGTAACGCCGC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAaagtaacgccgcAGATCGAGACCCGACGC chr5:27079876-Variant-A;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Variant A ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc GTGTCGGCAGTT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAgtgtcggcagttAGATCGAGACCCGACGC chr5:27079876-Variant-A;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative C ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc ACGTAAGGACGC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAacgtaaggacgcAGATCGAGACCCGACGC chr5:27079876-Alternative-C;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Variant A ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc CGGTACACGAAC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAcggtacacgaacAGATCGAGACCCGACGC chr5:27079876-Variant-A;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative C ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc GCGGAATTGCAG CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAgcggaattgcagAGATCGAGACCCGACGC chr5:27079876-Alternative-C;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative C ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc AAGTACGACAAC CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAaagtacgacaacAGATCGAGACCCGACGC chr5:27079876-Alternative-C;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Alternative C ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc ATAAGCAAGCGT CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcCccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAataagcaagcgtAGATCGAGACCCGACGC chr5:27079876-Alternative-C;Patient-55 chr5:27079876-TA DeNovo Patient-55 intergenic NA 0.000513 -0.32 0.32 0 CDH9 41186 Variant A ctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttc ATTCGAACCAGA CGACGCGGTCTCTCTCTctgaacataggaacaggcaaagattcatgacaaagacaccaaaagtaatcAccacaaaagcaaaaattgacaaatggaatctaaataatttaagagcttcAGAGGGAGACGGACGTCTCAATAAattcgaaccagaAGATCGAGACCCGACGC chr5:27079876-Variant-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Reference A aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta AACACTTACCGA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAaacacttaccgaAGATCGAGACCCGACGC chr5:27079895-Reference-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative C aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GATAGTTATCGC CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgatagttatcgcAGATCGAGACCCGACGC chr5:27079895-Alternative-C;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative C aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CTGCGTGAGGTT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAActgcgtgaggttAGATCGAGACCCGACGC chr5:27079895-Alternative-C;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Reference A aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GCGAATGTAGAT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgcgaatgtagatAGATCGAGACCCGACGC chr5:27079895-Reference-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative C aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GTAACCAACGTT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgtaaccaacgttAGATCGAGACCCGACGC chr5:27079895-Alternative-C;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Reference A aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta AGTCGAACGATA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAagtcgaacgataAGATCGAGACCCGACGC chr5:27079895-Reference-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative C aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CATTCGCGGCTT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAcattcgcggcttAGATCGAGACCCGACGC chr5:27079895-Alternative-C;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative C aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GACGTACCAGAT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgCcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgacgtaccagatAGATCGAGACCCGACGC chr5:27079895-Alternative-C;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative T aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GTCATCAACCTT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgtcatcaaccttAGATCGAGACCCGACGC chr5:27079895-Alternative-T;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Reference A aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CTTAGCGTAACT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAActtagcgtaactAGATCGAGACCCGACGC chr5:27079895-Reference-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Reference A aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta AGTCGTGACTTA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgAcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAagtcgtgacttaAGATCGAGACCCGACGC chr5:27079895-Reference-A;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative T aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CGCATAAGGCCA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAcgcataaggccaAGATCGAGACCCGACGC chr5:27079895-Alternative-T;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative T aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CTCATCAACATC CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAActcatcaacatcAGATCGAGACCCGACGC chr5:27079895-Alternative-T;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative T aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GCCAATCAACGA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgccaatcaacgaAGATCGAGACCCGACGC chr5:27079895-Alternative-T;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Alternative T aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GTACCTACAACC CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgTcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgtacctacaaccAGATCGAGACCCGACGC chr5:27079895-Alternative-T;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Variant G aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CAGATCACGTCA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAcagatcacgtcaAGATCGAGACCCGACGC chr5:27079895-Variant-G;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Variant G aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta ATAGGCGTAACT CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAataggcgtaactAGATCGAGACCCGACGC chr5:27079895-Variant-G;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Variant G aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CAATGTTGGACA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAcaatgttggacaAGATCGAGACCCGACGC chr5:27079895-Variant-G;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Variant G aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta CTAGATGTTCGA CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAActagatgttcgaAGATCGAGACCCGACGC chr5:27079895-Variant-G;Patient-55 chr5:27079895-AG DeNovo Patient-55 intergenic NA 0.000513 0.29 7.08 0 CDH9 41205 Variant G aagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaacta GAAGTGAACGCG CGACGCGGTCTCTCTCTaagattcatgacaaagacaccaaaagtaatctccacaaaagcaaaaattgGcaaatggaatctaaataatttaagagcttctgcacagcaaaagaaactaAGAGGGAGACGGACGTCTCAATAAgaagtgaacgcgAGATCGAGACCCGACGC chr5:27079895-Variant-G;Patient-55 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Reference G gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GCAGCAGTCGTT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAgcagcagtcgttAGATCGAGACCCGACGC chr5:27121123-Reference-G;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Reference G gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ATTCATCGGCAT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAattcatcggcatAGATCGAGACCCGACGC chr5:27121123-Reference-G;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Reference G gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GATACGCTACTA CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAgatacgctactaAGATCGAGACCCGACGC chr5:27121123-Reference-G;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Reference G gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct CAAGAGTTGAGT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAcaagagttgagtAGATCGAGACCCGACGC chr5:27121123-Reference-G;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Reference G gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ACAATAATGCGC CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcGccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAacaataatgcgcAGATCGAGACCCGACGC chr5:27121123-Reference-G;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Variant T gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ATTCGGTAGCGG CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAattcggtagcggAGATCGAGACCCGACGC chr5:27121123-Variant-T;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Variant T gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct AGAGCAACTAGT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAagagcaactagtAGATCGAGACCCGACGC chr5:27121123-Variant-T;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Variant T gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ATTGAGGACCGG CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAattgaggaccggAGATCGAGACCCGACGC chr5:27121123-Variant-T;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative A gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ATTCTGCACCTA CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAattctgcacctaAGATCGAGACCCGACGC chr5:27121123-Alternative-A;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative A gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ACGAGTTGTACT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAacgagttgtactAGATCGAGACCCGACGC chr5:27121123-Alternative-A;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative A gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct CGACTAGGTATT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAcgactaggtattAGATCGAGACCCGACGC chr5:27121123-Alternative-A;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative A gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct CGGTGTTATAGA CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAcggtgttatagaAGATCGAGACCCGACGC chr5:27121123-Alternative-A;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative C gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct CAGAGGTAACAG CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAcagaggtaacagAGATCGAGACCCGACGC chr5:27121123-Alternative-C;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative C gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct ACCTAGTACCGC CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAacctagtaccgcAGATCGAGACCCGACGC chr5:27121123-Alternative-C;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Variant T gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GGCTCCGTGTAA CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAggctccgtgtaaAGATCGAGACCCGACGC chr5:27121123-Variant-T;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Variant T gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GGACTCTCAACG CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcTccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAggactctcaacgAGATCGAGACCCGACGC chr5:27121123-Variant-T;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative C gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct CGGTGATCTCGT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAcggtgatctcgtAGATCGAGACCCGACGC chr5:27121123-Alternative-C;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative A gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GACATTACAAGG CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcAccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAgacattacaaggAGATCGAGACCCGACGC chr5:27121123-Alternative-A;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative C gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GAGATAACACAC CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAgagataacacacAGATCGAGACCCGACGC chr5:27121123-Alternative-C;Patient-49 chr5:27121123-GT DeNovo Patient-49 intergenic NA 0.000513 -0.02 2.33 0 CDH9 82433 Alternative C gaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttct GACGGTAACGGT CGACGCGGTCTCTCTCTgaagaaactccgaacacatttgaacatcagaagggacagactccagacgcCccaccttaagagctgtaacactcaccgtgagggtgcgcggcttcgttctAGAGGGAGACGGACGTCTCAATAAgacggtaacggtAGATCGAGACCCGACGC chr5:27121123-Alternative-C;Patient-49 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Variant G tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AACTTAGTGGAG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAaacttagtggagAGATCGAGACCCGACGC chr5:31711096-Variant-G;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Variant G tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GCGAGTATCGTC CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAgcgagtatcgtcAGATCGAGACCCGACGC chr5:31711096-Variant-G;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Variant G tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GGATCATATGCT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAggatcatatgctAGATCGAGACCCGACGC chr5:31711096-Variant-G;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Variant G tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt ACGATGTACCGG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAacgatgtaccggAGATCGAGACCCGACGC chr5:31711096-Variant-G;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative T tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt CAATTGGTTGGT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAcaattggttggtAGATCGAGACCCGACGC chr5:31711096-Alternative-T;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Variant G tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt CGGCAAGATTCG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaGgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAcggcaagattcgAGATCGAGACCCGACGC chr5:31711096-Variant-G;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative T tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GTACCGCATAAG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAgtaccgcataagAGATCGAGACCCGACGC chr5:31711096-Alternative-T;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Reference A tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AACGTATCGTAC CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAaacgtatcgtacAGATCGAGACCCGACGC chr5:31711096-Reference-A;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative T tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt CTCTAAGTAGGT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAActctaagtaggtAGATCGAGACCCGACGC chr5:31711096-Alternative-T;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Reference A tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GGCGACAGTAGT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAggcgacagtagtAGATCGAGACCCGACGC chr5:31711096-Reference-A;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Reference A tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GTACGCTCGAAC CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAgtacgctcgaacAGATCGAGACCCGACGC chr5:31711096-Reference-A;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Reference A tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt ACGCCGCTTCAT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAacgccgcttcatAGATCGAGACCCGACGC chr5:31711096-Reference-A;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative T tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt CGATTAGTACCT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAcgattagtacctAGATCGAGACCCGACGC chr5:31711096-Alternative-T;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative T tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AGAACGCTAGAA CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaTgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAagaacgctagaaAGATCGAGACCCGACGC chr5:31711096-Alternative-T;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative C tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AGGAACTTATGG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAaggaacttatggAGATCGAGACCCGACGC chr5:31711096-Alternative-C;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative C tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt CGAGACATCGTC CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAcgagacatcgtcAGATCGAGACCCGACGC chr5:31711096-Alternative-C;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative C tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AGAACGGTCTGT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAagaacggtctgtAGATCGAGACCCGACGC chr5:31711096-Alternative-C;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative C tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AAGGTGTCGACG CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAaaggtgtcgacgAGATCGAGACCCGACGC chr5:31711096-Alternative-C;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Reference A tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt AGCCTGAAGGAC CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaAgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAagcctgaaggacAGATCGAGACCCGACGC chr5:31711096-Reference-A;Patient-88 chr5:31711096-AG DeNovo Patient-88 intergenic 9.6e-05 0.000513 0.35 7.82 2.31 PDZD2 87934 Alternative C tttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgt GGCTGACGACTT CGACGCGGTCTCTCTCTtttaaaataaaacgtacatgttgtaaaaagaaaaaagacacacacaaaaaCgtatatgttgcaacaatttccattcacgccttgtgacagtaactgttgtAGAGGGAGACGGACGTCTCAATAAggctgacgacttAGATCGAGACCCGACGC chr5:31711096-Alternative-C;Patient-88 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Variant G ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AGGAGAAGCATA CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaggagaagcataAGATCGAGACCCGACGC chr5:32779115-Variant-G;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Variant G ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt ACCTTGACGGCA CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaccttgacggcaAGATCGAGACCCGACGC chr5:32779115-Variant-G;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative A ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt ACAGATTGACGC CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAacagattgacgcAGATCGAGACCCGACGC chr5:32779115-Alternative-A;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Variant G ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AACTTCATCGCA CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaacttcatcgcaAGATCGAGACCCGACGC chr5:32779115-Variant-G;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative A ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt GTAGTCGGCATC CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAgtagtcggcatcAGATCGAGACCCGACGC chr5:32779115-Alternative-A;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative T ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AACGCACGTATC CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaacgcacgtatcAGATCGAGACCCGACGC chr5:32779115-Alternative-T;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative A ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt GTCGCGGTGATT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAgtcgcggtgattAGATCGAGACCCGACGC chr5:32779115-Alternative-A;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Variant G ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AGTGAGGCGATT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAagtgaggcgattAGATCGAGACCCGACGC chr5:32779115-Variant-G;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Variant G ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt ACTGAAGGCCAT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtGtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAactgaaggccatAGATCGAGACCCGACGC chr5:32779115-Variant-G;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative T ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AATCGTGTGACT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaatcgtgtgactAGATCGAGACCCGACGC chr5:32779115-Alternative-T;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Reference C ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt GATGTCGACAGG CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAgatgtcgacaggAGATCGAGACCCGACGC chr5:32779115-Reference-C;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative A ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt ACTCGGTTCGGT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAactcggttcggtAGATCGAGACCCGACGC chr5:32779115-Alternative-A;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative T ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt CTGAGTTCGACC CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAActgagttcgaccAGATCGAGACCCGACGC chr5:32779115-Alternative-T;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative T ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt GTCCGTGCTGAA CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAgtccgtgctgaaAGATCGAGACCCGACGC chr5:32779115-Alternative-T;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Reference C ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AGCTTAGTAAGG CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAagcttagtaaggAGATCGAGACCCGACGC chr5:32779115-Reference-C;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Reference C ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AACACCTAGAAG CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaacacctagaagAGATCGAGACCCGACGC chr5:32779115-Reference-C;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative A ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt GCGTGCGATTGA CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtAtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAgcgtgcgattgaAGATCGAGACCCGACGC chr5:32779115-Alternative-A;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Reference C ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AACGGTAAGCGG CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAaacggtaagcggAGATCGAGACCCGACGC chr5:32779115-Reference-C;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Reference C ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AGTGCGGTTATT CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtCtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAagtgcggttattAGATCGAGACCCGACGC chr5:32779115-Reference-C;Patient-58 chr5:32779115-CG Inherited Patient-58 intronic NPR3 NA 0.000148 1.15 14.16 2.46 NPR3 68371 Alternative T ggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgt AGACTATCGTTC CGACGCGGTCTCTCTCTggctgtcaaggatacacaagtttatggtaggtgtaccctttgtaaccagtTtattttaagaagacaaaaaaatcaaagtgaatggtagcttccattctgtAGAGGGAGACGGACGTCTCAATAAagactatcgttcAGATCGAGACCCGACGC chr5:32779115-Alternative-T;Patient-58 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative T gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtaga GTAGCGTCCAAG CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAgtagcgtccaagAGATCGAGACCCGACGC chr5:34918263-Alternative-T;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative T gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtaga AGTTGTAAGGAC CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAagttgtaaggacAGATCGAGACCCGACGC chr5:34918263-Alternative-T;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Variant C gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtaga GTAGGACTCTTA CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAgtaggactcttaAGATCGAGACCCGACGC chr5:34918263-Variant-C;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Variant C gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGTGACTACGGT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgtgactacggtAGATCGAGACCCGACGC chr5:34918263-Variant-C;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Variant C gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtaga AATAATGCTCGG CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAaataatgctcggAGATCGAGACCCGACGC chr5:34918263-Variant-C;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Variant C gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtaga ACAGACTTAACC CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAacagacttaaccAGATCGAGACCCGACGC chr5:34918263-Variant-C;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Reference A gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CTCTCTGTCGTC CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAActctctgtcgtcAGATCGAGACCCGACGC chr5:34918263-Reference-A;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Reference A gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGATCCGATCCT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgatccgatcctAGATCGAGACCCGACGC chr5:34918263-Reference-A;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Variant C gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGCCTATATCAT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaCaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgcctatatcatAGATCGAGACCCGACGC chr5:34918263-Variant-C;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Reference A gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtaga AGACTACGAGCA CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAagactacgagcaAGATCGAGACCCGACGC chr5:34918263-Reference-A;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Reference A gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CTAATAGCGTCA CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAActaatagcgtcaAGATCGAGACCCGACGC chr5:34918263-Reference-A;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative T gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CAACGCACTAAG CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcaacgcactaagAGATCGAGACCCGACGC chr5:34918263-Alternative-T;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative G gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtaga GTAGCCACTAAG CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAgtagccactaagAGATCGAGACCCGACGC chr5:34918263-Alternative-G;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative T gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CTAGACGACTAT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAActagacgactatAGATCGAGACCCGACGC chr5:34918263-Alternative-T;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative T gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGATTCGACCAT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaTaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgattcgaccatAGATCGAGACCCGACGC chr5:34918263-Alternative-T;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative G gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGAACGGATTAA CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgaacggattaaAGATCGAGACCCGACGC chr5:34918263-Alternative-G;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative G gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CAACCTTAGAGT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcaaccttagagtAGATCGAGACCCGACGC chr5:34918263-Alternative-G;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative G gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtaga GAGTCTAGACTT CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAgagtctagacttAGATCGAGACCCGACGC chr5:34918263-Alternative-G;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Alternative G gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtaga GAGCTACTATAC CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaGaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAgagctactatacAGATCGAGACCCGACGC chr5:34918263-Alternative-G;Patient-47 chr5:34918263-AC Inherited Patient-47 intronic BRIX1 NA 9.9e-05 -0.1 1.43 0 BRIX1 2442 Reference A gcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtaga CGAACTATCCGC CGACGCGGTCTCTCTCTgcctgggcaacatagggagactcccatctctacaaaaaaaaaaaaaaaaaAaactagctggacatggtggcacatgcctgtagtctccagctactgtagaAGAGGGAGACGGACGTCTCAATAAcgaactatccgcAGATCGAGACCCGACGC chr5:34918263-Reference-A;Patient-47 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Reference C tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg CACTTCGAACAT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAcacttcgaacatAGATCGAGACCCGACGC chr5:34926218-Reference-C;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Reference C tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg ACAACGTGTATC CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAacaacgtgtatcAGATCGAGACCCGACGC chr5:34926218-Reference-C;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Reference C tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AAGATCGTAGGT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAaagatcgtaggtAGATCGAGACCCGACGC chr5:34926218-Reference-C;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative A tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg GTAGATCCGTAC CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAgtagatccgtacAGATCGAGACCCGACGC chr5:34926218-Alternative-A;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Reference C tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AATCAACAAGCG CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAaatcaacaagcgAGATCGAGACCCGACGC chr5:34926218-Reference-C;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative A tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AACCGGAGTCGT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAaaccggagtcgtAGATCGAGACCCGACGC chr5:34926218-Alternative-A;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative A tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg ACGGCTCGTAGT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAacggctcgtagtAGATCGAGACCCGACGC chr5:34926218-Alternative-A;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative A tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AGGTATCGAGAA CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAaggtatcgagaaAGATCGAGACCCGACGC chr5:34926218-Alternative-A;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Variant T tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg CGTTCATTGCCG CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAcgttcattgccgAGATCGAGACCCGACGC chr5:34926218-Variant-T;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative G tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg GCGAATGTAACT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAgcgaatgtaactAGATCGAGACCCGACGC chr5:34926218-Alternative-G;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative A tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg CGTGACTATTGA CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacAgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAcgtgactattgaAGATCGAGACCCGACGC chr5:34926218-Alternative-A;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative G tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg GTTGTGCATTCT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAgttgtgcattctAGATCGAGACCCGACGC chr5:34926218-Alternative-G;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative G tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg ACTCTGAACGCA CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAactctgaacgcaAGATCGAGACCCGACGC chr5:34926218-Alternative-G;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative G tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg GGTAAGCCTGAC CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAggtaagcctgacAGATCGAGACCCGACGC chr5:34926218-Alternative-G;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Alternative G tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg ACAAGGTTCCGG CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacGgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAacaaggttccggAGATCGAGACCCGACGC chr5:34926218-Alternative-G;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Variant T tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg CTTGTAGTGCGG CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAActtgtagtgcggAGATCGAGACCCGACGC chr5:34926218-Variant-T;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Variant T tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg GCGACACATTAT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAgcgacacattatAGATCGAGACCCGACGC chr5:34926218-Variant-T;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Reference C tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AACGCCAAGTCT CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacCgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAaacgccaagtctAGATCGAGACCCGACGC chr5:34926218-Reference-C;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Variant T tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg ATAGTGGCTAAC CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAatagtggctaacAGATCGAGACCCGACGC chr5:34926218-Variant-T;Patient-55 chr5:34926218-CT Inherited Patient-55 intergenic NA 0.000513 -0.53 0.07 -0.94 DNAJC21 3479 Variant T tttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccg AGTCGTAGCCGA CGACGCGGTCTCTCTCTtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggttcacTgcaacctccacctccctggttcaagtgattctcctgcctcagcctcccgAGAGGGAGACGGACGTCTCAATAAagtcgtagccgaAGATCGAGACCCGACGC chr5:34926218-Variant-T;Patient-55 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative T acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa AGTCCGACGGAA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAagtccgacggaaAGATCGAGACCCGACGC chr5:36658409-Alternative-T;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative T acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ATTCCGGCTAGG CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAattccggctaggAGATCGAGACCCGACGC chr5:36658409-Alternative-T;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Reference G acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa AGCTACTACGGC CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAagctactacggcAGATCGAGACCCGACGC chr5:36658409-Reference-G;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative T acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa CGTAGGTTCGCA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtaggttcgcaAGATCGAGACCCGACGC chr5:36658409-Alternative-T;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative T acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa GGCCGGACAATT CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAggccggacaattAGATCGAGACCCGACGC chr5:36658409-Alternative-T;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative T acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa CTACCGCGATAC CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggTttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAActaccgcgatacAGATCGAGACCCGACGC chr5:36658409-Alternative-T;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Variant A acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa AGGCGTCGTCAA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAaggcgtcgtcaaAGATCGAGACCCGACGC chr5:36658409-Variant-A;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Variant A acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ACGTTCGCGTGT CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAacgttcgcgtgtAGATCGAGACCCGACGC chr5:36658409-Variant-A;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Variant A acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ACCGTGGAGATA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAaccgtggagataAGATCGAGACCCGACGC chr5:36658409-Variant-A;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative C acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa GTTGATCGTACA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAgttgatcgtacaAGATCGAGACCCGACGC chr5:36658409-Alternative-C;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Variant A acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa CTCAATCCTGAA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAActcaatcctgaaAGATCGAGACCCGACGC chr5:36658409-Variant-A;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative C acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa GTTCAAGGCGCA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAgttcaaggcgcaAGATCGAGACCCGACGC chr5:36658409-Alternative-C;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative C acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa CGCTGGTCTTGA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgctggtcttgaAGATCGAGACCCGACGC chr5:36658409-Alternative-C;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative C acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa GTAATCGGATGT CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAgtaatcggatgtAGATCGAGACCCGACGC chr5:36658409-Alternative-C;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Variant A acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ACTATGTCTCGT CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggAttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAactatgtctcgtAGATCGAGACCCGACGC chr5:36658409-Variant-A;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Reference G acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ACACGGTTCAAT CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAacacggttcaatAGATCGAGACCCGACGC chr5:36658409-Reference-G;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Alternative C acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa ATTGAAGGTCGA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggCttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAattgaaggtcgaAGATCGAGACCCGACGC chr5:36658409-Alternative-C;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Reference G acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa GTTAACGTTACG CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAgttaacgttacgAGATCGAGACCCGACGC chr5:36658409-Reference-G;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Reference G acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa AACGGTCGCGAA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAaacggtcgcgaaAGATCGAGACCCGACGC chr5:36658409-Reference-G;Patient-71 chr5:36658409-GA DeNovo Patient-71 intronic SLC1A3 NA 9.9e-05 0.1 4.27 1.5 SLC1A3 51951 Reference G acagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaa CGTCGCGAGTTA CGACGCGGTCTCTCTCTacagagacaggaaaacccaaggcatgtctagggaatgctgagaagtctggGttgcctggcagaatagggtaggcctgcgtaggaaatgaagctgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtcgcgagttaAGATCGAGACCCGACGC chr5:36658409-Reference-G;Patient-71 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative T aagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgt ACGAGATGATAC CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAacgagatgatacAGATCGAGACCCGACGC chr5:37432280-Alternative-T;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative T aagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgt CTAGCTGAATCA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAActagctgaatcaAGATCGAGACCCGACGC chr5:37432280-Alternative-T;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative T aagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgt GCAAGCGGTCTA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgcaagcggtctaAGATCGAGACCCGACGC chr5:37432280-Alternative-T;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Variant G aagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgt GCGGCAGCATAA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgcggcagcataaAGATCGAGACCCGACGC chr5:37432280-Variant-G;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Variant G aagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgt GTAGATGTGGAT CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgtagatgtggatAGATCGAGACCCGACGC chr5:37432280-Variant-G;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative T aagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgt ACTCTTGATGCT CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAactcttgatgctAGATCGAGACCCGACGC chr5:37432280-Alternative-T;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Variant G aagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgt GTCATGGCTATA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgtcatggctataAGATCGAGACCCGACGC chr5:37432280-Variant-G;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Reference A aagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgt GCAGCGTTCACA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgcagcgttcacaAGATCGAGACCCGACGC chr5:37432280-Reference-A;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Variant G aagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgt GTTGTACGTCGG CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgttgtacgtcggAGATCGAGACCCGACGC chr5:37432280-Variant-G;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Reference A aagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgt ATTCCAATCGTC CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAattccaatcgtcAGATCGAGACCCGACGC chr5:37432280-Reference-A;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative T aagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgt CGTGAATTCCAA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcTcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAcgtgaattccaaAGATCGAGACCCGACGC chr5:37432280-Alternative-T;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Variant G aagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgt GGATCGGCTGTT CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcGcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAggatcggctgttAGATCGAGACCCGACGC chr5:37432280-Variant-G;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative C aagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgt GATGCTGACCAC CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgatgctgaccacAGATCGAGACCCGACGC chr5:37432280-Alternative-C;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative C aagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgt ATCTCCGAACAT CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAatctccgaacatAGATCGAGACCCGACGC chr5:37432280-Alternative-C;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Reference A aagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgt CGTCGTGCGTAA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAcgtcgtgcgtaaAGATCGAGACCCGACGC chr5:37432280-Reference-A;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Reference A aagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgt CTAATGCCTATC CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAActaatgcctatcAGATCGAGACCCGACGC chr5:37432280-Reference-A;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Reference A aagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgt ACATCAACTGCT CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcAcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAacatcaactgctAGATCGAGACCCGACGC chr5:37432280-Reference-A;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative C aagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgt GGTTACGATAGA CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAggttacgatagaAGATCGAGACCCGACGC chr5:37432280-Alternative-C;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative C aagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgt GAGTAATCAACG CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgagtaatcaacgAGATCGAGACCCGACGC chr5:37432280-Alternative-C;Patient-61 chr5:37432280-AG DeNovo Patient-61 intronic WDR70 NA 4.95e-05 0.72 11.26 0.98 WDR70 52867 Alternative C aagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgt GACGGTGGATAC CGACGCGGTCTCTCTCTaagctgttttccgtagtagctataccattttacattcctaccaacattgcCcaaggattccagtttctttacctccttaccaacacttgttattttctgtAGAGGGAGACGGACGTCTCAATAAgacggtggatacAGATCGAGACCCGACGC chr5:37432280-Alternative-C;Patient-61 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative G cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CGAAGATGCTAT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAcgaagatgctatAGATCGAGACCCGACGC chr5:38994022-Alternative-G;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative G cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact ACGATTACTCGA CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAacgattactcgaAGATCGAGACCCGACGC chr5:38994022-Alternative-G;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Variant T cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CTAGTTGGATAC CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAActagttggatacAGATCGAGACCCGACGC chr5:38994022-Variant-T;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Variant T cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GTACCTGATGAT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAgtacctgatgatAGATCGAGACCCGACGC chr5:38994022-Variant-T;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Variant T cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GTGCGGCCATTA CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAgtgcggccattaAGATCGAGACCCGACGC chr5:38994022-Variant-T;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative G cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GATTATTGGTCG CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAgattattggtcgAGATCGAGACCCGACGC chr5:38994022-Alternative-G;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Reference C cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CGCCTAAGCCAA CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAcgcctaagccaaAGATCGAGACCCGACGC chr5:38994022-Reference-C;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Reference C cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GAGATAGAGAGT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAgagatagagagtAGATCGAGACCCGACGC chr5:38994022-Reference-C;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Reference C cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GGCTTGCATCAG CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAggcttgcatcagAGATCGAGACCCGACGC chr5:38994022-Reference-C;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Reference C cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact ACTGAGGCGTAC CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAactgaggcgtacAGATCGAGACCCGACGC chr5:38994022-Reference-C;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Variant T cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CGTTGGTACGCA CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAcgttggtacgcaAGATCGAGACCCGACGC chr5:38994022-Variant-T;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative A cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact AAGATACGGCAT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAaagatacggcatAGATCGAGACCCGACGC chr5:38994022-Alternative-A;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative G cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CGTAGACATACT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAcgtagacatactAGATCGAGACCCGACGC chr5:38994022-Alternative-G;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Reference C cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact CGACAGCCTATT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaCgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAcgacagcctattAGATCGAGACCCGACGC chr5:38994022-Reference-C;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative G cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GACATTGGCGTC CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaGgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAgacattggcgtcAGATCGAGACCCGACGC chr5:38994022-Alternative-G;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative A cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact AGATAGGTGACT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAagataggtgactAGATCGAGACCCGACGC chr5:38994022-Alternative-A;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Variant T cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact ATCTTACGGAGT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaTgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAatcttacggagtAGATCGAGACCCGACGC chr5:38994022-Variant-T;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative A cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact AGCTGAACCGAT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAagctgaaccgatAGATCGAGACCCGACGC chr5:38994022-Alternative-A;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative A cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact AGCAAGTTGGAT CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAagcaagttggatAGATCGAGACCCGACGC chr5:38994022-Alternative-A;Patient-75 chr5:38994022-CT DeNovo Patient-75 intronic RICTOR 0.000255 9.9e-05 -0.42 0.16 -0.32 RICTOR 80487 Alternative A cacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaact GGTCTTATGAAC CGACGCGGTCTCTCTCTcacaaaattcttaaaaatattatacaaaattggccaggcgcggtggctcaAgcctgtaatcccagcactctgggaggccaaggcgggcagatcacgaactAGAGGGAGACGGACGTCTCAATAAggtcttatgaacAGATCGAGACCCGACGC chr5:38994022-Alternative-A;Patient-75 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative T taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag GACATTCGTAAC CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAgacattcgtaacAGATCGAGACCCGACGC chr5:39207670-Alternative-T;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative A taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AGATGGTAGGTT CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAagatggtaggttAGATCGAGACCCGACGC chr5:39207670-Alternative-A;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Reference C taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CTATAGCCACGA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAActatagccacgaAGATCGAGACCCGACGC chr5:39207670-Reference-C;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Reference C taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AACGACGCGTTA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAaacgacgcgttaAGATCGAGACCCGACGC chr5:39207670-Reference-C;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Reference C taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag ATTCTAGCGAAG CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAattctagcgaagAGATCGAGACCCGACGC chr5:39207670-Reference-C;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative A taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AATAGCTGACGA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAaatagctgacgaAGATCGAGACCCGACGC chr5:39207670-Alternative-A;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative A taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AGGCGACATTAA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAaggcgacattaaAGATCGAGACCCGACGC chr5:39207670-Alternative-A;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative A taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AGTTGATCGGAT CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAagttgatcggatAGATCGAGACCCGACGC chr5:39207670-Alternative-A;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative T taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag GGATGATAATCG CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAggatgataatcgAGATCGAGACCCGACGC chr5:39207670-Alternative-T;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative T taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AATGCTCGTCTA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAaatgctcgtctaAGATCGAGACCCGACGC chr5:39207670-Alternative-T;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative T taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CATAGGTCGATT CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAcataggtcgattAGATCGAGACCCGACGC chr5:39207670-Alternative-T;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Reference C taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag GAGTAGCCGAAG CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAgagtagccgaagAGATCGAGACCCGACGC chr5:39207670-Reference-C;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative A taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CGGATTGATCAT CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaAagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAcggattgatcatAGATCGAGACCCGACGC chr5:39207670-Alternative-A;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Variant G taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CGGCGGTGATTA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAcggcggtgattaAGATCGAGACCCGACGC chr5:39207670-Variant-G;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Variant G taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag ACTGGTCAGGCA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAactggtcaggcaAGATCGAGACCCGACGC chr5:39207670-Variant-G;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Variant G taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag AACAACGCTTCT CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAaacaacgcttctAGATCGAGACCCGACGC chr5:39207670-Variant-G;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Variant G taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag GGTGTTGATAAG CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAggtgttgataagAGATCGAGACCCGACGC chr5:39207670-Variant-G;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Variant G taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CGCTGAAGTATC CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaGagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAcgctgaagtatcAGATCGAGACCCGACGC chr5:39207670-Variant-G;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Reference C taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag GCATGTCCTACA CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaCagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAAgcatgtcctacaAGATCGAGACCCGACGC chr5:39207670-Reference-C;Patient-30 chr5:39207670-CG Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 63088 Alternative T taaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtag CTCTTAGACGAG CGACGCGGTCTCTCTCTtaaaagtaatgaaccaagtaaacagttaaaggctgagatggcatgaaggaTagacatcccatcttttctgttcctagaaagaaaatcgtcccttttgtagAGAGGGAGACGGACGTCTCAATAActcttagacgagAGATCGAGACCCGACGC chr5:39207670-Alternative-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Variant T tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt AATAGTGTGGAC CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAaatagtgtggacAGATCGAGACCCGACGC chr5:39209727-Variant-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Variant T tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt ATAGTGGAGGTT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAatagtggaggttAGATCGAGACCCGACGC chr5:39209727-Variant-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Variant T tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GCCACCAACTTC CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAgccaccaacttcAGATCGAGACCCGACGC chr5:39209727-Variant-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Variant T tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GTCGCTGGTAAG CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAgtcgctggtaagAGATCGAGACCCGACGC chr5:39209727-Variant-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Variant T tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GGCGGTTGTCAT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccTgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAggcggttgtcatAGATCGAGACCCGACGC chr5:39209727-Variant-T;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Reference G tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt ACTTGCGTCGTC CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAacttgcgtcgtcAGATCGAGACCCGACGC chr5:39209727-Reference-G;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Reference G tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt CTTAAGGATAGG CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAActtaaggataggAGATCGAGACCCGACGC chr5:39209727-Reference-G;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Reference G tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt AGATACTCGGAA CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAagatactcggaaAGATCGAGACCCGACGC chr5:39209727-Reference-G;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Reference G tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt AACAGCTAGCTT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAaacagctagcttAGATCGAGACCCGACGC chr5:39209727-Reference-G;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative C tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GATGTGGTTGTT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAgatgtggttgttAGATCGAGACCCGACGC chr5:39209727-Alternative-C;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative C tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt CGGAAGTAAGCG CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAcggaagtaagcgAGATCGAGACCCGACGC chr5:39209727-Alternative-C;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative A tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt AATGCGAATCGA CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAaatgcgaatcgaAGATCGAGACCCGACGC chr5:39209727-Alternative-A;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative A tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt CGAGAACGAGAT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAcgagaacgagatAGATCGAGACCCGACGC chr5:39209727-Alternative-A;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative A tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt CGGACTGTCGAA CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAcggactgtcgaaAGATCGAGACCCGACGC chr5:39209727-Alternative-A;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative A tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GCAATCCTGACC CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAgcaatcctgaccAGATCGAGACCCGACGC chr5:39209727-Alternative-A;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative A tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt ACGGCTGTTGGT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccAgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAacggctgttggtAGATCGAGACCCGACGC chr5:39209727-Alternative-A;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Reference G tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GTTCGTAGCTAA CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccGgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAgttcgtagctaaAGATCGAGACCCGACGC chr5:39209727-Reference-G;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative C tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt GGAGTCACAGCT CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAggagtcacagctAGATCGAGACCCGACGC chr5:39209727-Alternative-C;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative C tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt ATTACACGGACG CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAattacacggacgAGATCGAGACCCGACGC chr5:39209727-Alternative-C;Patient-30 chr5:39209727-GT Inherited Patient-30 intronic FYB1 0.00051 4.95e-05 NA NA NA FYB1 61031 Alternative C tgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgtt ACTAATCGAAGG CGACGCGGTCTCTCTCTtgcctcagcctcccaaagtgctgggattacaggcgtgagccaccgcacccCgcctatttagattcttaatgaattataatttacatgtgtgttctctgttAGAGGGAGACGGACGTCTCAATAAactaatcgaaggAGATCGAGACCCGACGC chr5:39209727-Alternative-C;Patient-30 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative C gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CATTCGAGCTAA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAcattcgagctaaAGATCGAGACCCGACGC chr5:39231277-Alternative-C;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Variant T gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga GTGTTGGTATAC CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAgtgttggtatacAGATCGAGACCCGACGC chr5:39231277-Variant-T;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Reference A gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CATAACGGTATC CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAcataacggtatcAGATCGAGACCCGACGC chr5:39231277-Reference-A;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Reference A gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AGCTCGCTGACT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAagctcgctgactAGATCGAGACCCGACGC chr5:39231277-Reference-A;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Reference A gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CGACCGGTACTT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAcgaccggtacttAGATCGAGACCCGACGC chr5:39231277-Reference-A;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative C gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga GAATGACGCGCA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAgaatgacgcgcaAGATCGAGACCCGACGC chr5:39231277-Alternative-C;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Reference A gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga GAATTGGTAGGT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAgaattggtaggtAGATCGAGACCCGACGC chr5:39231277-Reference-A;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Variant T gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga ACATCAGTACGG CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAacatcagtacggAGATCGAGACCCGACGC chr5:39231277-Variant-T;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Variant T gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AACGACGACACG CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAaacgacgacacgAGATCGAGACCCGACGC chr5:39231277-Variant-T;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Variant T gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AGTTAGAGCTGT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAagttagagctgtAGATCGAGACCCGACGC chr5:39231277-Variant-T;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative C gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga ACGATCAGCGCA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAacgatcagcgcaAGATCGAGACCCGACGC chr5:39231277-Alternative-C;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative G gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga ACACCGGTCTAA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAacaccggtctaaAGATCGAGACCCGACGC chr5:39231277-Alternative-G;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative C gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AGGACTTAGGAT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAaggacttaggatAGATCGAGACCCGACGC chr5:39231277-Alternative-C;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Reference A gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CGTTGAACGTAA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaAaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAcgttgaacgtaaAGATCGAGACCCGACGC chr5:39231277-Reference-A;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative G gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CGCTAAGATGAA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAcgctaagatgaaAGATCGAGACCCGACGC chr5:39231277-Alternative-G;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative C gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AAGCAGCGCACA CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaCaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAaagcagcgcacaAGATCGAGACCCGACGC chr5:39231277-Alternative-C;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative G gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga CTTAGTCCGGAG CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAActtagtccggagAGATCGAGACCCGACGC chr5:39231277-Alternative-G;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative G gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AGTTACGCCTAT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAagttacgcctatAGATCGAGACCCGACGC chr5:39231277-Alternative-G;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Alternative G gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga ACAGAGCTCGAT CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaGaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAacagagctcgatAGATCGAGACCCGACGC chr5:39231277-Alternative-G;Patient-59 chr5:39231277-AT DeNovo Patient-59 intronic FYB1 NA 4.95e-05 -0.01 2.46 0.33 FYB1 39481 Variant T gaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctggga AACGCATCAAGG CGACGCGGTCTCTCTCTgaaaaaagtactcagctcagagcaaaaaaaaaaaaaacaaaaaaaaacaaTaaaaacaaaacagctgtagccaccagcttcagctgctgttgccctgggaAGAGGGAGACGGACGTCTCAATAAaacgcatcaaggAGATCGAGACCCGACGC chr5:39231277-Variant-T;Patient-59 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative T gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ACTTGCCGCGTT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAacttgccgcgttAGATCGAGACCCGACGC chr5:39233151-Alternative-T;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative T gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg CGGCAATCACGT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAcggcaatcacgtAGATCGAGACCCGACGC chr5:39233151-Alternative-T;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative T gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg CGATAGCGTACA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAcgatagcgtacaAGATCGAGACCCGACGC chr5:39233151-Alternative-T;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative T gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GTAAGTCGGCGA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAgtaagtcggcgaAGATCGAGACCCGACGC chr5:39233151-Alternative-T;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative T gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ACTTATCGTCGT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataTcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAacttatcgtcgtAGATCGAGACCCGACGC chr5:39233151-Alternative-T;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Reference G gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GCAAGTACCACA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAgcaagtaccacaAGATCGAGACCCGACGC chr5:39233151-Reference-G;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative C gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg CTATATAACGGC CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAActatataacggcAGATCGAGACCCGACGC chr5:39233151-Alternative-C;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative C gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ATCGCTGCGCTA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAatcgctgcgctaAGATCGAGACCCGACGC chr5:39233151-Alternative-C;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Variant A gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg CGTAAGGTACGG CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAcgtaaggtacggAGATCGAGACCCGACGC chr5:39233151-Variant-A;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Variant A gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GGCGTAGTCGAT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAggcgtagtcgatAGATCGAGACCCGACGC chr5:39233151-Variant-A;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Variant A gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg AGTGATACAGGT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAagtgatacaggtAGATCGAGACCCGACGC chr5:39233151-Variant-A;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Variant A gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ATTCAACGGCGC CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAattcaacggcgcAGATCGAGACCCGACGC chr5:39233151-Variant-A;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Variant A gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg CTACGATCATGG CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataAcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAActacgatcatggAGATCGAGACCCGACGC chr5:39233151-Variant-A;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Reference G gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg AACACGACATTC CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAaacacgacattcAGATCGAGACCCGACGC chr5:39233151-Reference-G;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Reference G gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GTTGACTTACCT CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAgttgacttacctAGATCGAGACCCGACGC chr5:39233151-Reference-G;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Reference G gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ACAACAACCAAG CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAacaacaaccaagAGATCGAGACCCGACGC chr5:39233151-Reference-G;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Reference G gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg ATTCTTAGGCCA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataGcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAattcttaggccaAGATCGAGACCCGACGC chr5:39233151-Reference-G;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative C gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GAGTATTGAACG CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAgagtattgaacgAGATCGAGACCCGACGC chr5:39233151-Alternative-C;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative C gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg AACCAACAGACA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAaaccaacagacaAGATCGAGACCCGACGC chr5:39233151-Alternative-C;Patient-30 chr5:39233151-GA Inherited Patient-30 intronic FYB1 0.000605 4.95e-05 NA NA NA FYB1 37607 Alternative C gctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctg GTAAGGTCGTAA CGACGCGGTCTCTCTCTgctattgtgaataatgccgcaagaaacatacgtgtgcatgtgtctttataCcagcatgatttagagtcctttgggtatatacccagtaatgggatggctgAGAGGGAGACGGACGTCTCAATAAgtaaggtcgtaaAGATCGAGACCCGACGC chr5:39233151-Alternative-C;Patient-30 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative G gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CTCGCGGAACTT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActcgcggaacttAGATCGAGACCCGACGC chr5:40642652-Alternative-G;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative G gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GCGAACGACCAT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgcgaacgaccatAGATCGAGACCCGACGC chr5:40642652-Alternative-G;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative G gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GTGGCATTGAGT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgtggcattgagtAGATCGAGACCCGACGC chr5:40642652-Alternative-G;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative G gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GGATCGGCAATT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggatcggcaattAGATCGAGACCCGACGC chr5:40642652-Alternative-G;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative G gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca ACTTCAGTTCCA CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctGggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacttcagttccaAGATCGAGACCCGACGC chr5:40642652-Alternative-G;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Variant T gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CGTATGCTGTGG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgtatgctgtggAGATCGAGACCCGACGC chr5:40642652-Variant-T;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Variant T gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CGCCGATTACAC CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgccgattacacAGATCGAGACCCGACGC chr5:40642652-Variant-T;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Variant T gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CAACTGGTTGCA CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcaactggttgcaAGATCGAGACCCGACGC chr5:40642652-Variant-T;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Variant T gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CTATCCGCGGAT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActatccgcggatAGATCGAGACCCGACGC chr5:40642652-Variant-T;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative A gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CGGAACTTCAGG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcggaacttcaggAGATCGAGACCCGACGC chr5:40642652-Alternative-A;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Variant T gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca ACCTAAGGACAT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctTggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacctaaggacatAGATCGAGACCCGACGC chr5:40642652-Variant-T;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative A gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca ACGTTGCTGACG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacgttgctgacgAGATCGAGACCCGACGC chr5:40642652-Alternative-A;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Reference C gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CACTAGACTCGG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcactagactcggAGATCGAGACCCGACGC chr5:40642652-Reference-C;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative A gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca CTTACCATGACG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActtaccatgacgAGATCGAGACCCGACGC chr5:40642652-Alternative-A;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative A gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GAATCAGGCAAT CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgaatcaggcaatAGATCGAGACCCGACGC chr5:40642652-Alternative-A;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Alternative A gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GCCGGATAACAC CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctAggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgccggataacacAGATCGAGACCCGACGC chr5:40642652-Alternative-A;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Reference C gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca ACTGCATTATGG CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAactgcattatggAGATCGAGACCCGACGC chr5:40642652-Reference-C;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Reference C gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca GATAGAATCGAC CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgatagaatcgacAGATCGAGACCCGACGC chr5:40642652-Reference-C;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Reference C gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca AGAACGCGGACA CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAagaacgcggacaAGATCGAGACCCGACGC chr5:40642652-Reference-C;Patient-21 chr5:40642652-CT Inherited Patient-21 intergenic 0.00053 0.00154 -0.07 1.71 0 PTGER4 37379 Reference C gagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctca ACTCCAATAGCA CGACGCGGTCTCTCTCTgagacagagtctcgctctgtcgcccaggctggagtgcagtggcgggatctCggctcactgcaagctccgcctcccgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAactccaatagcaAGATCGAGACCCGACGC chr5:40642652-Reference-C;Patient-21 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Reference G ttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag GGACGCTCTCAA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAggacgctctcaaAGATCGAGACCCGACGC chr5:40879009-Reference-G;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Reference G ttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag CAACGGATTCAT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAcaacggattcatAGATCGAGACCCGACGC chr5:40879009-Reference-G;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Reference G ttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag ACCAACCTTAAC CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAaccaaccttaacAGATCGAGACCCGACGC chr5:40879009-Reference-G;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Reference G ttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag CGACCAGGTACT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAcgaccaggtactAGATCGAGACCCGACGC chr5:40879009-Reference-G;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Variant T ttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag GACTGGTTGTGC CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAgactggttgtgcAGATCGAGACCCGACGC chr5:40879009-Variant-T;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative A ttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag ATACTTGCGCGC CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAatacttgcgcgcAGATCGAGACCCGACGC chr5:40879009-Alternative-A;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Variant T ttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AAGATGCGTGAA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAaagatgcgtgaaAGATCGAGACCCGACGC chr5:40879009-Variant-T;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Variant T ttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AGTCGCTGTGCA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAagtcgctgtgcaAGATCGAGACCCGACGC chr5:40879009-Variant-T;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Reference G ttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AGGAGTTGAGAA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattGattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAaggagttgagaaAGATCGAGACCCGACGC chr5:40879009-Reference-G;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative A ttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag GTACCAACACAT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAgtaccaacacatAGATCGAGACCCGACGC chr5:40879009-Alternative-A;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative A ttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AGGCGATAAGTT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAaggcgataagttAGATCGAGACCCGACGC chr5:40879009-Alternative-A;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Variant T ttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AATAGTAGTCGG CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAaatagtagtcggAGATCGAGACCCGACGC chr5:40879009-Variant-T;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Variant T ttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag GGTGATTAGCTT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattTattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAggtgattagcttAGATCGAGACCCGACGC chr5:40879009-Variant-T;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative C ttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag ATCGATGTGCAT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAatcgatgtgcatAGATCGAGACCCGACGC chr5:40879009-Alternative-C;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative A ttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AGCAATCATCGT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAagcaatcatcgtAGATCGAGACCCGACGC chr5:40879009-Alternative-A;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative A ttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag CGGTCTGTAGTC CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattAattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAcggtctgtagtcAGATCGAGACCCGACGC chr5:40879009-Alternative-A;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative C ttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag GGATCGCTTCGA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAggatcgcttcgaAGATCGAGACCCGACGC chr5:40879009-Alternative-C;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative C ttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag ACTCGGCACAAC CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAactcggcacaacAGATCGAGACCCGACGC chr5:40879009-Alternative-C;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative C ttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag AGTAGTACACCT CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAagtagtacacctAGATCGAGACCCGACGC chr5:40879009-Alternative-C;Patient-62 chr5:40879009-GT DeNovo Patient-62 intergenic 0.000255 0.000513 0.15 5.03 0.69 RPL37 43621 Alternative C ttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggag CGGATCAATTCA CGACGCGGTCTCTCTCTttattctaagtcttggagtagttccctacagaactgcataaaataatattCattgggccgggtgcggtagctaatgcctgtaatcctagcactttgggagAGAGGGAGACGGACGTCTCAATAAcggatcaattcaAGATCGAGACCCGACGC chr5:40879009-Alternative-C;Patient-62 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Variant A ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag ACAACTCGGTTA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAacaactcggttaAGATCGAGACCCGACGC chr5:42462909-Variant-A;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Variant A ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GCGAATACGGCA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgcgaatacggcaAGATCGAGACCCGACGC chr5:42462909-Variant-A;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative C ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CGGAACACGCTT CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAcggaacacgcttAGATCGAGACCCGACGC chr5:42462909-Alternative-C;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative G ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag AGCGCATCACGA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAagcgcatcacgaAGATCGAGACCCGACGC chr5:42462909-Alternative-G;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Variant A ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GATATGGCGCGT CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgatatggcgcgtAGATCGAGACCCGACGC chr5:42462909-Variant-A;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Variant A ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GACCAACAGATA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgaccaacagataAGATCGAGACCCGACGC chr5:42462909-Variant-A;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative G ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GGTCGGTTGGTT CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAggtcggttggttAGATCGAGACCCGACGC chr5:42462909-Alternative-G;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative G ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CGCCATTCGCAT CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAcgccattcgcatAGATCGAGACCCGACGC chr5:42462909-Alternative-G;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative C ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GAGATGCCGTCA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgagatgccgtcaAGATCGAGACCCGACGC chr5:42462909-Alternative-C;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative G ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CGAAGATTGTGA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAcgaagattgtgaAGATCGAGACCCGACGC chr5:42462909-Alternative-G;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Reference T ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GTAAGCGTGCAC CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgtaagcgtgcacAGATCGAGACCCGACGC chr5:42462909-Reference-T;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative C ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GGACGTGGTCTT CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAggacgtggtcttAGATCGAGACCCGACGC chr5:42462909-Alternative-C;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative G ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GGAATAATGCAC CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaGggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAggaataatgcacAGATCGAGACCCGACGC chr5:42462909-Alternative-G;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Variant A ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GCACGTATGTCA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaAggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgcacgtatgtcaAGATCGAGACCCGACGC chr5:42462909-Variant-A;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Reference T ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GTTCGTCTGTCG CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgttcgtctgtcgAGATCGAGACCCGACGC chr5:42462909-Reference-T;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Reference T ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CTCATAATGCCA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAActcataatgccaAGATCGAGACCCGACGC chr5:42462909-Reference-T;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Reference T ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CGTTCCATTGCG CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAcgttccattgcgAGATCGAGACCCGACGC chr5:42462909-Reference-T;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative C ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag CAAGCTCAACGA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAcaagctcaacgaAGATCGAGACCCGACGC chr5:42462909-Alternative-C;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Alternative C ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag AGTGATCCTACA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaCggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAagtgatcctacaAGATCGAGACCCGACGC chr5:42462909-Alternative-C;Patient-54 chr5:42462909-TA DeNovo Patient-54 intronic GHR 0.000223 4.95e-05 0.54 9.73 3.8 GHR 39031 Reference T ttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcag GAGAGTAGATGA CGACGCGGTCTCTCTCTttataatacaaggttgtaatgtcagcacttcctattgcatagttttataaTggggatatatagctatgcattaaaatgcattattgaaatggaaaatcagAGAGGGAGACGGACGTCTCAATAAgagagtagatgaAGATCGAGACCCGACGC chr5:42462909-Reference-T;Patient-54 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative G cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct ATTGTGCTTGTC CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAattgtgcttgtcAGATCGAGACCCGACGC chr5:42899112-Alternative-G;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative G cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct CACGGTATACAC CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAcacggtatacacAGATCGAGACCCGACGC chr5:42899112-Alternative-G;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative G cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct AATGTTGCGAGA CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAaatgttgcgagaAGATCGAGACCCGACGC chr5:42899112-Alternative-G;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Variant T cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GCATAATGGAAC CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgcataatggaacAGATCGAGACCCGACGC chr5:42899112-Variant-T;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Variant T cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct CGGAATATCCGG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAcggaatatccggAGATCGAGACCCGACGC chr5:42899112-Variant-T;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Variant T cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct ACCAACTAGGTT CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAaccaactaggttAGATCGAGACCCGACGC chr5:42899112-Variant-T;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative G cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct AATGGCTACGCG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAaatggctacgcgAGATCGAGACCCGACGC chr5:42899112-Alternative-G;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative A cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct AGAATGGCTGCG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAagaatggctgcgAGATCGAGACCCGACGC chr5:42899112-Alternative-A;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Variant T cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GCCGTATGTGCA CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgccgtatgtgcaAGATCGAGACCCGACGC chr5:42899112-Variant-T;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Variant T cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct CAAGGACCGAGA CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtTgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAcaaggaccgagaAGATCGAGACCCGACGC chr5:42899112-Variant-T;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative G cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GTTCTAGGTGCG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtGgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgttctaggtgcgAGATCGAGACCCGACGC chr5:42899112-Alternative-G;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative A cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct ACAACCAATTCG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAacaaccaattcgAGATCGAGACCCGACGC chr5:42899112-Alternative-A;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative A cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct ACTTGACCTCAT CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAacttgacctcatAGATCGAGACCCGACGC chr5:42899112-Alternative-A;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative A cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GAGCTCTTACGG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgagctcttacggAGATCGAGACCCGACGC chr5:42899112-Alternative-A;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Reference C cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GCATATACGCGT CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgcatatacgcgtAGATCGAGACCCGACGC chr5:42899112-Reference-C;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Reference C cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GTGTCTTGTCAT CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgtgtcttgtcatAGATCGAGACCCGACGC chr5:42899112-Reference-C;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Alternative A cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GTGCGGATTATT CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtAgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgtgcggattattAGATCGAGACCCGACGC chr5:42899112-Alternative-A;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Reference C cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct GATGGCACTTGA CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAgatggcacttgaAGATCGAGACCCGACGC chr5:42899112-Reference-C;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Reference C cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct ACCTGTTATGAG CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAacctgttatgagAGATCGAGACCCGACGC chr5:42899112-Reference-C;Patient-61 chr5:42899112-CT Inherited Patient-61 intergenic NA 0.000513 -0.29 0.4 -2.61 SELENOP 87087 Reference C cactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcct CATCTGATTCAC CGACGCGGTCTCTCTCTcactggagtgcctcgggctccttccagggcagcagttaagcaggtcgtgtCgcaggcctgcagaaaggctggggttcctctcctttccgggttccttcctAGAGGGAGACGGACGTCTCAATAAcatctgattcacAGATCGAGACCCGACGC chr5:42899112-Reference-C;Patient-61 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative C gaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GCATATTCCGAA CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgcatattccgaaAGATCGAGACCCGACGC chr5:44451285-Alternative-C;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative C gaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GCGGTTGCTATC CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgcggttgctatcAGATCGAGACCCGACGC chr5:44451285-Alternative-C;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Variant G gaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GCAGTGATAAGG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgcagtgataaggAGATCGAGACCCGACGC chr5:44451285-Variant-G;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative T gaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GATTATGGATGG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgattatggatggAGATCGAGACCCGACGC chr5:44451285-Alternative-T;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Reference A gaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GGAGATGTCGGT CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAggagatgtcggtAGATCGAGACCCGACGC chr5:44451285-Reference-A;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative C gaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccat AAGCGTCCTACG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAaagcgtcctacgAGATCGAGACCCGACGC chr5:44451285-Alternative-C;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative T gaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccat AAGTAATCGGCA CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAaagtaatcggcaAGATCGAGACCCGACGC chr5:44451285-Alternative-T;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Variant G gaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GATAGAGCAACT CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgatagagcaactAGATCGAGACCCGACGC chr5:44451285-Variant-G;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative T gaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GACGTCTATTGC CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgacgtctattgcAGATCGAGACCCGACGC chr5:44451285-Alternative-T;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative T gaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccat CGGCAGTTGGAA CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAcggcagttggaaAGATCGAGACCCGACGC chr5:44451285-Alternative-T;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Reference A gaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccat AAGAATGTGGAG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAaagaatgtggagAGATCGAGACCCGACGC chr5:44451285-Reference-A;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Reference A gaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccat AGCATGTCGTGC CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAagcatgtcgtgcAGATCGAGACCCGACGC chr5:44451285-Reference-A;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Variant G gaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccat ATAGGACGGAAC CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAataggacggaacAGATCGAGACCCGACGC chr5:44451285-Variant-G;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Reference A gaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GTGTCGATGCGT CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgtgtcgatgcgtAGATCGAGACCCGACGC chr5:44451285-Reference-A;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Variant G gaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GTGACGATCGTC CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgtgacgatcgtcAGATCGAGACCCGACGC chr5:44451285-Variant-G;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative T gaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccat CGAGTTGTGACA CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttTccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAcgagttgtgacaAGATCGAGACCCGACGC chr5:44451285-Alternative-T;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Reference A gaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GCACCAATAGCG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttAccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgcaccaatagcgAGATCGAGACCCGACGC chr5:44451285-Reference-A;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Variant G gaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GGATATGAACCT CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttGccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAggatatgaacctAGATCGAGACCCGACGC chr5:44451285-Variant-G;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative C gaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccat GACCTTATGCGG CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAgaccttatgcggAGATCGAGACCCGACGC chr5:44451285-Alternative-C;Patient-56 chr5:44451285-AG DeNovo Patient-56 intergenic NA 0.000513 -0.03 2.21 0.16 FGF10 62500 Alternative C gaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccat ATCGGTGAACGA CGACGCGGTCTCTCTCTgaagaaatttttattttattttaccaacagttttcaaaccagctttatttCccaaagaccactaaagttacatgaacttgaaagcattttagctagccatAGAGGGAGACGGACGTCTCAATAAatcggtgaacgaAGATCGAGACCCGACGC chr5:44451285-Alternative-C;Patient-56 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Variant T gactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac ACACGCTCGTGT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAacacgctcgtgtAGATCGAGACCCGACGC chr5:44473368-Variant-T;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative G gactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CGCTCGACCTAT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcgctcgacctatAGATCGAGACCCGACGC chr5:44473368-Alternative-G;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative G gactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GTTGTGACGACC CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgttgtgacgaccAGATCGAGACCCGACGC chr5:44473368-Alternative-G;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative G gactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CGCCGTACAGAT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcgccgtacagatAGATCGAGACCCGACGC chr5:44473368-Alternative-G;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative G gactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GTACGGTAACTT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgtacggtaacttAGATCGAGACCCGACGC chr5:44473368-Alternative-G;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Variant T gactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CAGATACCGGAC CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcagataccggacAGATCGAGACCCGACGC chr5:44473368-Variant-T;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Variant T gactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GATTATGCTTCG CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgattatgcttcgAGATCGAGACCCGACGC chr5:44473368-Variant-T;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative G gactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac AGTAGTCACGGC CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagGtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAagtagtcacggcAGATCGAGACCCGACGC chr5:44473368-Alternative-G;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Variant T gactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CTAGTTGCTGAA CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAActagttgctgaaAGATCGAGACCCGACGC chr5:44473368-Variant-T;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Variant T gactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CAGGAGTTGCGA CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagTtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcaggagttgcgaAGATCGAGACCCGACGC chr5:44473368-Variant-T;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Reference A gactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GCGTGTTAAGTT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgcgtgttaagttAGATCGAGACCCGACGC chr5:44473368-Reference-A;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Reference A gactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GACGCTAGTCGT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgacgctagtcgtAGATCGAGACCCGACGC chr5:44473368-Reference-A;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Reference A gactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CTTAGCTGCCAC CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAActtagctgccacAGATCGAGACCCGACGC chr5:44473368-Reference-A;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Reference A gactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GAGGTAGTCCAT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAgaggtagtccatAGATCGAGACCCGACGC chr5:44473368-Reference-A;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Reference A gactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac GGCGTATATGAT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagAtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAggcgtatatgatAGATCGAGACCCGACGC chr5:44473368-Reference-A;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative C gactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac AGCTGATCAGTT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAagctgatcagttAGATCGAGACCCGACGC chr5:44473368-Alternative-C;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative C gactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CAGCGAATAAGT CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcagcgaataagtAGATCGAGACCCGACGC chr5:44473368-Alternative-C;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative C gactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CTGAAGTTAAGG CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAActgaagttaaggAGATCGAGACCCGACGC chr5:44473368-Alternative-C;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative C gactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac AGTGCTTGTCGG CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAagtgcttgtcggAGATCGAGACCCGACGC chr5:44473368-Alternative-C;Patient-75 chr5:44473368-AT DeNovo Patient-75 intergenic 3.2e-05 0.000513 0 2.59 0.23 FGF10 84583 Alternative C gactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatac CAACGTGCTAGA CGACGCGGTCTCTCTCTgactgtgataacataagaatacttgagaatagtttgcacattttggagagCtcaggtagaaagaatgatagatgtttcaatttcactcactaatgtatacAGAGGGAGACGGACGTCTCAATAAcaacgtgctagaAGATCGAGACCCGACGC chr5:44473368-Alternative-C;Patient-75 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Variant G atctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac ATACGCTCCGTC CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAatacgctccgtcAGATCGAGACCCGACGC chr5:45754823-Variant-G;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative T atctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac ACGTACGCGTGA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAacgtacgcgtgaAGATCGAGACCCGACGC chr5:45754823-Alternative-T;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Variant G atctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AGGCTACTGTTA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaggctactgttaAGATCGAGACCCGACGC chr5:45754823-Variant-G;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Variant G atctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AACGTTCAATCG CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaacgttcaatcgAGATCGAGACCCGACGC chr5:45754823-Variant-G;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative T atctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac ATATGCTCGTGA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAatatgctcgtgaAGATCGAGACCCGACGC chr5:45754823-Alternative-T;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Variant G atctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac GACGGTGAGTAA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAgacggtgagtaaAGATCGAGACCCGACGC chr5:45754823-Variant-G;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative T atctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac CGGTATGTTCTT CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAcggtatgttcttAGATCGAGACCCGACGC chr5:45754823-Alternative-T;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Reference A atctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AGCAGTACCTGA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAagcagtacctgaAGATCGAGACCCGACGC chr5:45754823-Reference-A;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative T atctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac ATACTAGCGGCG CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAatactagcggcgAGATCGAGACCCGACGC chr5:45754823-Alternative-T;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative C atctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac GAGCATACGTGG CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAgagcatacgtggAGATCGAGACCCGACGC chr5:45754823-Alternative-C;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Variant G atctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AATCATCCGTCT CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctGaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaatcatccgtctAGATCGAGACCCGACGC chr5:45754823-Variant-G;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative T atctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac GAGAGCTCTATA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctTaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAgagagctctataAGATCGAGACCCGACGC chr5:45754823-Alternative-T;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative C atctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AGGACCGTAACG CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaggaccgtaacgAGATCGAGACCCGACGC chr5:45754823-Alternative-C;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Reference A atctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac GGTTCACGGTAC CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAggttcacggtacAGATCGAGACCCGACGC chr5:45754823-Reference-A;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative C atctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac CAGCATGCTAAT CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAcagcatgctaatAGATCGAGACCCGACGC chr5:45754823-Alternative-C;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative C atctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac GTACTTGTCTAC CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAgtacttgtctacAGATCGAGACCCGACGC chr5:45754823-Alternative-C;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Alternative C atctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AGGTGGTGTAAT CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctCaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaggtggtgtaatAGATCGAGACCCGACGC chr5:45754823-Alternative-C;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Reference A atctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac CAACAACGTCTA CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAcaacaacgtctaAGATCGAGACCCGACGC chr5:45754823-Reference-A;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Reference A atctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac AACTATACCTGG CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAAaactatacctggAGATCGAGACCCGACGC chr5:45754823-Reference-A;Patient-21 chr5:45754823-AG DeNovo Patient-21 intergenic NA 0.000513 0.08 3.98 0.15 HCN1 58602 Reference A atctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttac CTATACGGTGAT CGACGCGGTCTCTCTCTatctaaggccacacataaaatatactaacattaatgatagctgataagctAaaagaaaaaaattcgcaaaaaaatctcataatgttttaagaaagtttacAGAGGGAGACGGACGTCTCAATAActatacggtgatAGATCGAGACCCGACGC chr5:45754823-Reference-A;Patient-21 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Reference G actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CTTACATCGCGA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAActtacatcgcgaAGATCGAGACCCGACGC chr5:502945-Reference-G;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Reference G actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta AAGACCGCCAGT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAaagaccgccagtAGATCGAGACCCGACGC chr5:502945-Reference-G;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative A actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CGTAATTCTAGG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcgtaattctaggAGATCGAGACCCGACGC chr5:502945-Alternative-A;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative A actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta ACCTAATAGGCG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAacctaataggcgAGATCGAGACCCGACGC chr5:502945-Alternative-A;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative T actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GAATATCAACGG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAgaatatcaacggAGATCGAGACCCGACGC chr5:502945-Alternative-T;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Variant C actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CGTGCGACTAGA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcgtgcgactagaAGATCGAGACCCGACGC chr5:502945-Variant-C;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative T actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta ACCGATCAACTT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAaccgatcaacttAGATCGAGACCCGACGC chr5:502945-Alternative-T;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative A actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CGGATCTTACTT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcggatcttacttAGATCGAGACCCGACGC chr5:502945-Alternative-A;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative A actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GTCATAGATGGT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAgtcatagatggtAGATCGAGACCCGACGC chr5:502945-Alternative-A;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Reference G actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta AATGTTCAGCGT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAaatgttcagcgtAGATCGAGACCCGACGC chr5:502945-Reference-G;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative A actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta ACAACTGGTCAT CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccAaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAacaactggtcatAGATCGAGACCCGACGC chr5:502945-Alternative-A;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Reference G actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GCAGGTAGTAGA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAgcaggtagtagaAGATCGAGACCCGACGC chr5:502945-Reference-G;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative T actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GGTGACGATTAA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAggtgacgattaaAGATCGAGACCCGACGC chr5:502945-Alternative-T;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative T actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CAGACTACGGAG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcagactacggagAGATCGAGACCCGACGC chr5:502945-Alternative-T;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Reference G actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GGTTAATCTGAC CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccGaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAggttaatctgacAGATCGAGACCCGACGC chr5:502945-Reference-G;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Variant C actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta AGATTAGCTACC CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAagattagctaccAGATCGAGACCCGACGC chr5:502945-Variant-C;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Alternative T actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta ATTCTGGTCAAG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccTaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAattctggtcaagAGATCGAGACCCGACGC chr5:502945-Alternative-T;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Variant C actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CGTAGTTATCAG CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcgtagttatcagAGATCGAGACCCGACGC chr5:502945-Variant-C;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Variant C actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta GGCTACCATCGA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAggctaccatcgaAGATCGAGACCCGACGC chr5:502945-Variant-C;Patient-69 chr5:502945-GC DeNovo Patient-69 intronic SLC9A3 NA 0.000792 -0.45 0.12 -0.3 SLC9A3 21603 Variant C actcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaacttta CGGCGGACTTAA CGACGCGGTCTCTCTCTactcactaccagtgaggccgaaagccgctgtaacgacacagacgggcgccCaaagccgccgtaatgacacagatgggcgctgtgttccagtgaaactttaAGAGGGAGACGGACGTCTCAATAAcggcggacttaaAGATCGAGACCCGACGC chr5:502945-Variant-C;Patient-69 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative G cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GGAGATCTCGTT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAggagatctcgttAGATCGAGACCCGACGC chr5:50625129-Alternative-G;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative G cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CGAGCCAAGTTA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAcgagccaagttaAGATCGAGACCCGACGC chr5:50625129-Alternative-G;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative G cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CTAACGTTGCGG CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAActaacgttgcggAGATCGAGACCCGACGC chr5:50625129-Alternative-G;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative A cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca AAGCAAGTACGT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAaagcaagtacgtAGATCGAGACCCGACGC chr5:50625129-Alternative-A;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Variant T cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca AACCGGATGATA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAaaccggatgataAGATCGAGACCCGACGC chr5:50625129-Variant-T;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative G cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GTTGGACAATGA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAgttggacaatgaAGATCGAGACCCGACGC chr5:50625129-Alternative-G;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Variant T cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GGACCGATAAGT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAggaccgataagtAGATCGAGACCCGACGC chr5:50625129-Variant-T;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative A cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GCGAGTTGATAA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAgcgagttgataaAGATCGAGACCCGACGC chr5:50625129-Alternative-A;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative G cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca ACAACTCCGATA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgGctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAacaactccgataAGATCGAGACCCGACGC chr5:50625129-Alternative-G;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Variant T cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GCCAATAACGAA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAgccaataacgaaAGATCGAGACCCGACGC chr5:50625129-Variant-T;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative A cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca ACACTGAACGAT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAacactgaacgatAGATCGAGACCCGACGC chr5:50625129-Alternative-A;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Reference C cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GTGTCTATGCTA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAgtgtctatgctaAGATCGAGACCCGACGC chr5:50625129-Reference-C;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Variant T cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca AGTGCTACGTGC CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAagtgctacgtgcAGATCGAGACCCGACGC chr5:50625129-Variant-T;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Reference C cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca ATATTCACGCGT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAatattcacgcgtAGATCGAGACCCGACGC chr5:50625129-Reference-C;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative A cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CGTGTATCGTGG CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAcgtgtatcgtggAGATCGAGACCCGACGC chr5:50625129-Alternative-A;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Variant T cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CGTATCATGGAT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgTctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAcgtatcatggatAGATCGAGACCCGACGC chr5:50625129-Variant-T;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Reference C cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CACACTATCTGT CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAcacactatctgtAGATCGAGACCCGACGC chr5:50625129-Reference-C;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Reference C cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca AATATGCGATGC CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAaatatgcgatgcAGATCGAGACCCGACGC chr5:50625129-Reference-C;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Reference C cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca CGAACATAGACA CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgCctttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAcgaacatagacaAGATCGAGACCCGACGC chr5:50625129-Reference-C;Patient-37 chr5:50625129-CT DeNovo Patient-37 intergenic 3.2e-05 0.000512821 -0.14 1.1 -2.62 ISL1 53828 Alternative A cttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcaca GCCGTATTCGAC CGACGCGGTCTCTCTCTcttgtcccagctattgagagtgctgtcagcacacagcctgcatgcgtttgActttcagaagttgcttaagcttcagagaaccaccttggtcaagttcacaAGAGGGAGACGGACGTCTCAATAAgccgtattcgacAGATCGAGACCCGACGC chr5:50625129-Alternative-A;Patient-37 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative T aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat AGATAGTGCGGT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAagatagtgcggtAGATCGAGACCCGACGC chr5:52260736-Alternative-T;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Variant A aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat AGTCGTCGAACC CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAagtcgtcgaaccAGATCGAGACCCGACGC chr5:52260736-Variant-A;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative T aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ATCGGCGAATCG CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAatcggcgaatcgAGATCGAGACCCGACGC chr5:52260736-Alternative-T;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative T aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ACCGGAGTACGT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAaccggagtacgtAGATCGAGACCCGACGC chr5:52260736-Alternative-T;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative T aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat GTTAGCCGTGGT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAgttagccgtggtAGATCGAGACCCGACGC chr5:52260736-Alternative-T;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative T aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat AGTAGTCGAGAT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagTgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAagtagtcgagatAGATCGAGACCCGACGC chr5:52260736-Alternative-T;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative C aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat GTGCTCGTCTGT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAgtgctcgtctgtAGATCGAGACCCGACGC chr5:52260736-Alternative-C;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative C aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat GCGTAATCAACA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAgcgtaatcaacaAGATCGAGACCCGACGC chr5:52260736-Alternative-C;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative C aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat AGCTCACTCATA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAagctcactcataAGATCGAGACCCGACGC chr5:52260736-Alternative-C;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative C aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ACCGTCGTCGTT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAaccgtcgtcgttAGATCGAGACCCGACGC chr5:52260736-Alternative-C;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Alternative C aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ATTCCACCGCCA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagCgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAattccaccgccaAGATCGAGACCCGACGC chr5:52260736-Alternative-C;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Variant A aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat GGTACCGGCTAA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAggtaccggctaaAGATCGAGACCCGACGC chr5:52260736-Variant-A;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Variant A aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat GCAGTGTAAGCG CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAgcagtgtaagcgAGATCGAGACCCGACGC chr5:52260736-Variant-A;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Variant A aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ATACTAGCGTGT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAatactagcgtgtAGATCGAGACCCGACGC chr5:52260736-Variant-A;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Variant A aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ACGCGGAGGTTA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagAgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAacgcggaggttaAGATCGAGACCCGACGC chr5:52260736-Variant-A;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Reference G aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat CTAAGTTCGTGA CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAActaagttcgtgaAGATCGAGACCCGACGC chr5:52260736-Reference-G;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Reference G aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat CTAATTCCGACT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAActaattccgactAGATCGAGACCCGACGC chr5:52260736-Reference-G;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Reference G aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat CGTGAAGACCTT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAcgtgaagaccttAGATCGAGACCCGACGC chr5:52260736-Reference-G;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Reference G aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ATTCGGTCGTCC CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAattcggtcgtccAGATCGAGACCCGACGC chr5:52260736-Reference-G;Patient-30 chr5:52260736-GA Inherited Patient-30 intergenic 0.000318 0.000513 NA NA NA ITGA2 24419 Reference G aagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttat ACGCGAGGTGTT CGACGCGGTCTCTCTCTaagtctctgtatttatgtaagtgttctttaacctattaagtataacttagGgcaatgagttccataaacttactacctatcgtgcaaagtaagattttatAGAGGGAGACGGACGTCTCAATAAacgcgaggtgttAGATCGAGACCCGACGC chr5:52260736-Reference-G;Patient-30 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative C ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc ACAGGCTACAAT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAacaggctacaatAGATCGAGACCCGACGC chr5:52774108-Alternative-C;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative C ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc AGATTCCGACAG CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAagattccgacagAGATCGAGACCCGACGC chr5:52774108-Alternative-C;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative C ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GGTATGCTAGAA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAggtatgctagaaAGATCGAGACCCGACGC chr5:52774108-Alternative-C;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Reference G ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc ACCGTCGTCCAT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAaccgtcgtccatAGATCGAGACCCGACGC chr5:52774108-Reference-G;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Reference G ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GTGTCGTTAGAA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgtgtcgttagaaAGATCGAGACCCGACGC chr5:52774108-Reference-G;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Variant T ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GTGCTCGACAGT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgtgctcgacagtAGATCGAGACCCGACGC chr5:52774108-Variant-T;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative C ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GCACGTACGTGT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgcacgtacgtgtAGATCGAGACCCGACGC chr5:52774108-Alternative-C;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Variant T ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc AGCTTCGACCGA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAagcttcgaccgaAGATCGAGACCCGACGC chr5:52774108-Variant-T;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Variant T ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GCACCAACACAG CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgcaccaacacagAGATCGAGACCCGACGC chr5:52774108-Variant-T;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Reference G ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc ATTCTTGGTAGG CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAattcttggtaggAGATCGAGACCCGACGC chr5:52774108-Reference-G;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Variant T ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc CAATTGATCGAG CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAcaattgatcgagAGATCGAGACCCGACGC chr5:52774108-Variant-T;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative A ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GCATCGTAACCG CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgcatcgtaaccgAGATCGAGACCCGACGC chr5:52774108-Alternative-A;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Reference G ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc CTCGGCATTCCA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAActcggcattccaAGATCGAGACCCGACGC chr5:52774108-Reference-G;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Variant T ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GAAGATAAGGAC CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggTaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgaagataaggacAGATCGAGACCCGACGC chr5:52774108-Variant-T;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative A ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc CGGATTGTAGTT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAcggattgtagttAGATCGAGACCCGACGC chr5:52774108-Alternative-A;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative C ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc CTAATGACCGGC CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggCaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAActaatgaccggcAGATCGAGACCCGACGC chr5:52774108-Alternative-C;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative A ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GCAACGGTCTAA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgcaacggtctaaAGATCGAGACCCGACGC chr5:52774108-Alternative-A;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Reference G ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GACATCTGACTA CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggGaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgacatctgactaAGATCGAGACCCGACGC chr5:52774108-Reference-G;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative A ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc GCGTCGACTTCT CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAAgcgtcgacttctAGATCGAGACCCGACGC chr5:52774108-Alternative-A;Patient-62 chr5:52774108-GT DeNovo Patient-62 intergenic 0.00051 0.00154 -0.14 1.04 -1.44 FST 2155 Alternative A ccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatcc CTGAACCGACAC CGACGCGGTCTCTCTCTccttaaaaagaagctgtgtctcttgctgccattaaaagacagggtaggggAaaaagtcaagtaacaatacttgttagcttctctttcctttaacttatccAGAGGGAGACGGACGTCTCAATAActgaaccgacacAGATCGAGACCCGACGC chr5:52774108-Alternative-A;Patient-62 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Variant C tgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttg ATTGCCTATCAG CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAattgcctatcagAGATCGAGACCCGACGC chr5:52922570-Variant-C;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Variant C tgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttg GATAGACTTCGT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgatagacttcgtAGATCGAGACCCGACGC chr5:52922570-Variant-C;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Variant C tgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttg CAGCATACCACA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcagcataccacaAGATCGAGACCCGACGC chr5:52922570-Variant-C;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Reference T tgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttg GTCATGTTCCGG CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgtcatgttccggAGATCGAGACCCGACGC chr5:52922570-Reference-T;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Reference T tgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttg GATAGCTTGGTT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgatagcttggttAGATCGAGACCCGACGC chr5:52922570-Reference-T;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Variant C tgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttg GGTTGAGCCACT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAggttgagccactAGATCGAGACCCGACGC chr5:52922570-Variant-C;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Variant C tgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttg GTTATTGCACCT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttCctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgttattgcacctAGATCGAGACCCGACGC chr5:52922570-Variant-C;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Reference T tgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttg AGTCGTTGACTA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAagtcgttgactaAGATCGAGACCCGACGC chr5:52922570-Reference-T;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative A tgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttg CGACCATACACG CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcgaccatacacgAGATCGAGACCCGACGC chr5:52922570-Alternative-A;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Reference T tgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttg CAACGCCGCAAT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcaacgccgcaatAGATCGAGACCCGACGC chr5:52922570-Reference-T;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Reference T tgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttg ACGTCCTAAGAA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttTctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAacgtcctaagaaAGATCGAGACCCGACGC chr5:52922570-Reference-T;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative A tgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttg GCCGAATGGTGT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgccgaatggtgtAGATCGAGACCCGACGC chr5:52922570-Alternative-A;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative A tgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttg GACGGCTTATTA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgacggcttattaAGATCGAGACCCGACGC chr5:52922570-Alternative-A;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative G tgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttg ACATCTGCGAGA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAacatctgcgagaAGATCGAGACCCGACGC chr5:52922570-Alternative-G;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative G tgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttg CGGAAGTACCAC CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcggaagtaccacAGATCGAGACCCGACGC chr5:52922570-Alternative-G;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative G tgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttg ACCGACCTTACG CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAaccgaccttacgAGATCGAGACCCGACGC chr5:52922570-Alternative-G;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative A tgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttg CTTAAGGTGACT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAActtaaggtgactAGATCGAGACCCGACGC chr5:52922570-Alternative-A;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative A tgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttg GCGTACCACCAT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttActcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAgcgtaccaccatAGATCGAGACCCGACGC chr5:52922570-Alternative-A;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative G tgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttg CACACGTGTCGA CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcacacgtgtcgaAGATCGAGACCCGACGC chr5:52922570-Alternative-G;Patient-82 chr5:52922570-TC DeNovo Patient-82 intronic NDUFS4 0.000159 8.38e-05 0.56 9.92 0 NDUFS4 66104 Alternative G tgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttg CGTGCTCCAATT CGACGCGGTCTCTCTCTtgtctgttcatatccttcacccactttttgatggggctgttggtttttttGctcataaatttgtttaagttctttgcagattctggatattagtcctttgAGAGGGAGACGGACGTCTCAATAAcgtgctccaattAGATCGAGACCCGACGC chr5:52922570-Alternative-G;Patient-82 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative C agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGACACGTAACT CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgacacgtaactAGATCGAGACCCGACGC chr5:52950001-Alternative-C;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative G agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GCGAGAACTAGA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAgcgagaactagaAGATCGAGACCCGACGC chr5:52950001-Alternative-G;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative C agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt ACGGCTAGCAGA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAacggctagcagaAGATCGAGACCCGACGC chr5:52950001-Alternative-C;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative C agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CACGTGACGACT CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcacgtgacgactAGATCGAGACCCGACGC chr5:52950001-Alternative-C;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative G agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CAACCTTAACCA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcaaccttaaccaAGATCGAGACCCGACGC chr5:52950001-Alternative-G;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Reference T agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGAAGGATGGAG CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgaaggatggagAGATCGAGACCCGACGC chr5:52950001-Reference-T;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Reference T agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGACACGAATAA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgacacgaataaAGATCGAGACCCGACGC chr5:52950001-Reference-T;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Reference T agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGTAGGTGGACA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgtaggtggacaAGATCGAGACCCGACGC chr5:52950001-Reference-T;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative G agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GTCGTAATGCTA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAgtcgtaatgctaAGATCGAGACCCGACGC chr5:52950001-Alternative-G;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative G agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GCGATAAGGCGA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAgcgataaggcgaAGATCGAGACCCGACGC chr5:52950001-Alternative-G;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative C agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGCACGAGAATC CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgcacgagaatcAGATCGAGACCCGACGC chr5:52950001-Alternative-C;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Variant A agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt AAGTTCGAGCAA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAaagttcgagcaaAGATCGAGACCCGACGC chr5:52950001-Variant-A;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Variant A agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt ATTACGATGTGC CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAattacgatgtgcAGATCGAGACCCGACGC chr5:52950001-Variant-A;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Variant A agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GGACGAATTAGT CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAggacgaattagtAGATCGAGACCCGACGC chr5:52950001-Variant-A;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Reference T agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt AGACGAGTTCAA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAagacgagttcaaAGATCGAGACCCGACGC chr5:52950001-Reference-T;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative G agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GGCGAGCAACTA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaGctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAggcgagcaactaAGATCGAGACCCGACGC chr5:52950001-Alternative-G;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Reference T agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CGCGGATATACG CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaTctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcgcggatatacgAGATCGAGACCCGACGC chr5:52950001-Reference-T;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Alternative C agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GGAGTAACACGA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaCctaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAggagtaacacgaAGATCGAGACCCGACGC chr5:52950001-Alternative-C;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Variant A agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt GCGCGCATGATA CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAgcgcgcatgataAGATCGAGACCCGACGC chr5:52950001-Variant-A;Patient-55 chr5:52950001-TA Inherited Patient-55 intronic NDUFS4 9.6e-05 4.19e-05 -0.02 2.33 0.17 NDUFS4 93535 Variant A agaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgttt CATATGGATGCT CGACGCGGTCTCTCTCTagaaatgtttctgatataataaaatggacaaagttcttttctaatcttgaActaccaataattaaaaaaaatcaggaatgggtattaagtattaatgtttAGAGGGAGACGGACGTCTCAATAAcatatggatgctAGATCGAGACCCGACGC chr5:52950001-Variant-A;Patient-55 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative G attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GTACCGTAGTAC CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgtaccgtagtacAGATCGAGACCCGACGC chr5:537050-Alternative-G;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Variant T attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GAGTATCCGACC CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgagtatccgaccAGATCGAGACCCGACGC chr5:537050-Variant-T;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative A attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GAGACTGGATAT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgagactggatatAGATCGAGACCCGACGC chr5:537050-Alternative-A;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Variant T attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GCCGAATACTAA CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgccgaatactaaAGATCGAGACCCGACGC chr5:537050-Variant-T;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Variant T attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg ATATGGTCGCGC CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAatatggtcgcgcAGATCGAGACCCGACGC chr5:537050-Variant-T;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative A attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AACGAATGGCTA CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAaacgaatggctaAGATCGAGACCCGACGC chr5:537050-Alternative-A;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative G attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AGCTATCAAGCT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAagctatcaagctAGATCGAGACCCGACGC chr5:537050-Alternative-G;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative G attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AAGCGCGTATCG CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAaagcgcgtatcgAGATCGAGACCCGACGC chr5:537050-Alternative-G;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative G attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg CGACTTATGCCG CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAcgacttatgccgAGATCGAGACCCGACGC chr5:537050-Alternative-G;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Variant T attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GGTGTCGCGTAT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAggtgtcgcgtatAGATCGAGACCCGACGC chr5:537050-Variant-T;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative A attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AAGCATGATGGT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAaagcatgatggtAGATCGAGACCCGACGC chr5:537050-Alternative-A;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Variant T attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg CTCGTAGTGCGA CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgTattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAActcgtagtgcgaAGATCGAGACCCGACGC chr5:537050-Variant-T;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative G attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GTAAGTCCGTGA CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgGattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgtaagtccgtgaAGATCGAGACCCGACGC chr5:537050-Alternative-G;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative A attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AGAGCAACACAG CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAagagcaacacagAGATCGAGACCCGACGC chr5:537050-Alternative-A;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Alternative A attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg CAACGCGAATCG CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgAattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAcaacgcgaatcgAGATCGAGACCCGACGC chr5:537050-Alternative-A;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Reference C attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AGTCGAGAGTAT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAagtcgagagtatAGATCGAGACCCGACGC chr5:537050-Reference-C;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Reference C attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GGTTAGACATTC CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAggttagacattcAGATCGAGACCCGACGC chr5:537050-Reference-C;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Reference C attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AGTCGCCAATAT CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAagtcgccaatatAGATCGAGACCCGACGC chr5:537050-Reference-C;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Reference C attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg GTAGTATCTGCA CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAgtagtatctgcaAGATCGAGACCCGACGC chr5:537050-Reference-C;Patient-99 chr5:537050-CT DeNovo Patient-99 intergenic 1e-04 0.11 -0.28 0.41 -1.69 SLC9A3 12500 Reference C attgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttgg AACCGGTCAATC CGACGCGGTCTCTCTCTattgtgacttagtgattctatgagtctggcttttctccctgagcgttgtgCattagcgattctgtgactctggcttttctccctgagcgttgtgtgttggAGAGGGAGACGGACGTCTCAATAAaaccggtcaatcAGATCGAGACCCGACGC chr5:537050-Reference-C;Patient-99 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative C atatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg GCCACGTGATAC CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAgccacgtgatacAGATCGAGACCCGACGC chr5:54400682-Alternative-C;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Reference A atatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg CGTTGCTCAAGG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAcgttgctcaaggAGATCGAGACCCGACGC chr5:54400682-Reference-A;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative C atatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ATCACGACGCGA CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAatcacgacgcgaAGATCGAGACCCGACGC chr5:54400682-Alternative-C;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative C atatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg AATAAGTCGTGG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAaataagtcgtggAGATCGAGACCCGACGC chr5:54400682-Alternative-C;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative C atatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg GGAATAAGATCG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAggaataagatcgAGATCGAGACCCGACGC chr5:54400682-Alternative-C;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative T atatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg CAATACGAACAG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAcaatacgaacagAGATCGAGACCCGACGC chr5:54400682-Alternative-T;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative C atatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg GGATATATCGGT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagCttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAggatatatcggtAGATCGAGACCCGACGC chr5:54400682-Alternative-C;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Reference A atatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ACGATCCGCAGT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAacgatccgcagtAGATCGAGACCCGACGC chr5:54400682-Reference-A;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative T atatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ACCACGTTAACA CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAaccacgttaacaAGATCGAGACCCGACGC chr5:54400682-Alternative-T;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Variant G atatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ACTTCCAATTGC CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAacttccaattgcAGATCGAGACCCGACGC chr5:54400682-Variant-G;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Reference A atatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ACAACGAAGTCT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAacaacgaagtctAGATCGAGACCCGACGC chr5:54400682-Reference-A;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Reference A atatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg AACGAGTCCACG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAaacgagtccacgAGATCGAGACCCGACGC chr5:54400682-Reference-A;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Reference A atatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg ATCGTGCGCTGA CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagAttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAatcgtgcgctgaAGATCGAGACCCGACGC chr5:54400682-Reference-A;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Variant G atatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg CGTGTAGCGTCT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAcgtgtagcgtctAGATCGAGACCCGACGC chr5:54400682-Variant-G;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Variant G atatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg AGGTATGCCGTC CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAaggtatgccgtcAGATCGAGACCCGACGC chr5:54400682-Variant-G;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative T atatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg CGTCGATTCCGT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAcgtcgattccgtAGATCGAGACCCGACGC chr5:54400682-Alternative-T;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative T atatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg GGATGGTGTACG CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAggatggtgtacgAGATCGAGACCCGACGC chr5:54400682-Alternative-T;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Alternative T atatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg GGCCAACAAGCT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagTttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAggccaacaagctAGATCGAGACCCGACGC chr5:54400682-Alternative-T;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Variant G atatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg AGTCTACGAGTT CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAagtctacgagttAGATCGAGACCCGACGC chr5:54400682-Variant-G;Patient-59 chr5:54400682-AG Inherited Patient-59 intronic GZMA NA 4.95e-05 0.32 7.5 2.29 GZMA 2205 Variant G atatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatg AGGCAGTACGCA CGACGCGGTCTCTCTCTatatggtatcttctctcttctcttccctatctcattggaaaagaccttagGttaaaccccatggtttggtctagagattgaaggggaggtgcaatcgatgAGAGGGAGACGGACGTCTCAATAAaggcagtacgcaAGATCGAGACCCGACGC chr5:54400682-Variant-G;Patient-59 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative C taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga CAACCAACGTGA CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAcaaccaacgtgaAGATCGAGACCCGACGC chr5:54628408-Alternative-C;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative C taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga ATAGGTGGCTAT CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAataggtggctatAGATCGAGACCCGACGC chr5:54628408-Alternative-C;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative T taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga CGGTAGATGAAC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAcggtagatgaacAGATCGAGACCCGACGC chr5:54628408-Alternative-T;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative T taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga AGTGTAAGGACG CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAagtgtaaggacgAGATCGAGACCCGACGC chr5:54628408-Alternative-T;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Variant G taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GCGAGTCGTTGT CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgcgagtcgttgtAGATCGAGACCCGACGC chr5:54628408-Variant-G;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Reference A taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga AATCTGCAACAC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAaatctgcaacacAGATCGAGACCCGACGC chr5:54628408-Reference-A;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Reference A taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GGTTCTACACAC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAggttctacacacAGATCGAGACCCGACGC chr5:54628408-Reference-A;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Reference A taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga CTTGCATTCCAA CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAActtgcattccaaAGATCGAGACCCGACGC chr5:54628408-Reference-A;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative T taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GGTACGGTAGCA CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAggtacggtagcaAGATCGAGACCCGACGC chr5:54628408-Alternative-T;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative C taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga ATCCGCGTCTAC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAatccgcgtctacAGATCGAGACCCGACGC chr5:54628408-Alternative-C;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Reference A taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GGATCTACAGCT CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAggatctacagctAGATCGAGACCCGACGC chr5:54628408-Reference-A;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative C taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GTCATGGTTAGT CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgtcatggttagtAGATCGAGACCCGACGC chr5:54628408-Alternative-C;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative T taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GAAGATGTCGGC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgaagatgtcggcAGATCGAGACCCGACGC chr5:54628408-Alternative-T;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Variant G taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GATATCGGAACA CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgatatcggaacaAGATCGAGACCCGACGC chr5:54628408-Variant-G;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative C taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GTTGGCGCCAAT CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaCgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgttggcgccaatAGATCGAGACCCGACGC chr5:54628408-Alternative-C;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Reference A taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga ACTATCGAATCG CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaAgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAactatcgaatcgAGATCGAGACCCGACGC chr5:54628408-Reference-A;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Alternative T taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GTGAACGTGCAG CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaTgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgtgaacgtgcagAGATCGAGACCCGACGC chr5:54628408-Alternative-T;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Variant G taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga ATCTGGTTCGCG CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAatctggttcgcgAGATCGAGACCCGACGC chr5:54628408-Variant-G;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Variant G taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga CGGTGGAGAATC CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAcggtggagaatcAGATCGAGACCCGACGC chr5:54628408-Variant-G;Patient-37 chr5:54628408-AG DeNovo Patient-37 intronic MTREX NA 4.95e-05 0.22 6.08 0.16 MTREX 24831 Variant G taaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaaggga GTAAGTGGCCGA CGACGCGGTCTCTCTCTtaaagaaaggaagtttatttggctcatggttctggaagctgagaaaaccaGgaacatggcacaggcctctggcgagagtcatcccatggcaagaaagggaAGAGGGAGACGGACGTCTCAATAAgtaagtggccgaAGATCGAGACCCGACGC chr5:54628408-Variant-G;Patient-37 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Reference A tatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CTGTCGACAGCA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActgtcgacagcaAGATCGAGACCCGACGC chr5:54657161-Reference-A;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative T tatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CTAAGGCACGTC CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActaaggcacgtcAGATCGAGACCCGACGC chr5:54657161-Alternative-T;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Variant G tatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CTCAACTTGCTA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActcaacttgctaAGATCGAGACCCGACGC chr5:54657161-Variant-G;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Variant G tatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa AGTATCTCCGAA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAagtatctccgaaAGATCGAGACCCGACGC chr5:54657161-Variant-G;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative T tatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GAAGTTCAACCT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgaagttcaacctAGATCGAGACCCGACGC chr5:54657161-Alternative-T;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Variant G tatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GTAGAGCGTAAT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgtagagcgtaatAGATCGAGACCCGACGC chr5:54657161-Variant-G;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative T tatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GGAACTTCAGAA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggaacttcagaaAGATCGAGACCCGACGC chr5:54657161-Alternative-T;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative T tatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GTGCTTAGGATT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgtgcttaggattAGATCGAGACCCGACGC chr5:54657161-Alternative-T;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Variant G tatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa AAGCGTGTAGAA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaagcgtgtagaaAGATCGAGACCCGACGC chr5:54657161-Variant-G;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Variant G tatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CAACAAGCCTGG CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctGtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAcaacaagcctggAGATCGAGACCCGACGC chr5:54657161-Variant-G;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Reference A tatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GGATCAAGTAAG CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggatcaagtaagAGATCGAGACCCGACGC chr5:54657161-Reference-A;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative T tatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa ACGCGTGCAGAT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctTtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAacgcgtgcagatAGATCGAGACCCGACGC chr5:54657161-Alternative-T;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Reference A tatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa AACACGATCGTC CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAaacacgatcgtcAGATCGAGACCCGACGC chr5:54657161-Reference-A;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Reference A tatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CTCTGGTGACAT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActctggtgacatAGATCGAGACCCGACGC chr5:54657161-Reference-A;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Reference A tatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GACGCAACGGAA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctAtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgacgcaacggaaAGATCGAGACCCGACGC chr5:54657161-Reference-A;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative C tatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CAGGCTCCATAC CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAcaggctccatacAGATCGAGACCCGACGC chr5:54657161-Alternative-C;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative C tatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GCGCTATATAGA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAgcgctatatagaAGATCGAGACCCGACGC chr5:54657161-Alternative-C;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative C tatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa GGATCGATCTAA CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAggatcgatctaaAGATCGAGACCCGACGC chr5:54657161-Alternative-C;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative C tatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa ATCCGTTACGTT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAAatccgttacgttAGATCGAGACCCGACGC chr5:54657161-Alternative-C;Patient-6 chr5:54657161-AG DeNovo Patient-6 intronic MTREX NA 4.95e-05 -0.17 0.89 -2.07 MTREX 53584 Alternative C tatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaa CTTGCTATCGAT CGACGCGGTCTCTCTCTtatatgtagaaatagtaggtttactttatacattagtataattcaagtctCtttgtcatatttaattatttttcctattggtgttagaaacatggcaaaaAGAGGGAGACGGACGTCTCAATAActtgctatcgatAGATCGAGACCCGACGC chr5:54657161-Alternative-C;Patient-6 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative G gttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CATCACGGAATT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAcatcacggaattAGATCGAGACCCGACGC chr5:54761288-Alternative-G;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative G gttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg AGCAGTATAGGT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAagcagtataggtAGATCGAGACCCGACGC chr5:54761288-Alternative-G;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative G gttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CTCTGAGGCGAA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAActctgaggcgaaAGATCGAGACCCGACGC chr5:54761288-Alternative-G;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Variant T gttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CTCGCGGCTATT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAActcgcggctattAGATCGAGACCCGACGC chr5:54761288-Variant-T;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative G gttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg AACAAGGACCTA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAaacaaggacctaAGATCGAGACCCGACGC chr5:54761288-Alternative-G;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Variant T gttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg ATCGTAAGGCTT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAatcgtaaggcttAGATCGAGACCCGACGC chr5:54761288-Variant-T;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Variant T gttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg GGATAGATAAGG CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAggatagataaggAGATCGAGACCCGACGC chr5:54761288-Variant-T;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Variant T gttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg GGACGGCTCTTA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAggacggctcttaAGATCGAGACCCGACGC chr5:54761288-Variant-T;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative A gttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg ATACGTAGCAGA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAatacgtagcagaAGATCGAGACCCGACGC chr5:54761288-Alternative-A;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative G gttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg AACAGCATTCCA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatGggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAaacagcattccaAGATCGAGACCCGACGC chr5:54761288-Alternative-G;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Variant T gttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg ACAAGTTACGTC CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatTggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAacaagttacgtcAGATCGAGACCCGACGC chr5:54761288-Variant-T;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative A gttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg ATCGATGCCGCT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAatcgatgccgctAGATCGAGACCCGACGC chr5:54761288-Alternative-A;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative A gttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CGCGACGAGATA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAcgcgacgagataAGATCGAGACCCGACGC chr5:54761288-Alternative-A;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Reference C gttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg AGATTACGGCGG CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAagattacggcggAGATCGAGACCCGACGC chr5:54761288-Reference-C;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Reference C gttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CATTATGCGCTT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAcattatgcgcttAGATCGAGACCCGACGC chr5:54761288-Reference-C;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative A gttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg AGCAACTGTGCG CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAagcaactgtgcgAGATCGAGACCCGACGC chr5:54761288-Alternative-A;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Reference C gttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CGAGTTGTGCGT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAcgagttgtgcgtAGATCGAGACCCGACGC chr5:54761288-Reference-C;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Alternative A gttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg CAATACGAGCAA CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatAggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAcaatacgagcaaAGATCGAGACCCGACGC chr5:54761288-Alternative-A;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Reference C gttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg GCCAAGATGAAC CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAgccaagatgaacAGATCGAGACCCGACGC chr5:54761288-Reference-C;Patient-91 chr5:54761288-CT Inherited Patient-91 intronic PLPP1 0.000574 9.9e-05 -0.24 0.54 -1.11 PLPP1 69617 Reference C gttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactg ACTTGCGTGCGT CGACGCGGTCTCTCTCTgttaagttatagatggaagaagaaatcatgataattttattctattaaatCggggcgtccaatcttttggcttccccgcaccacactggaagaagaactgAGAGGGAGACGGACGTCTCAATAAacttgcgtgcgtAGATCGAGACCCGACGC chr5:54761288-Reference-C;Patient-91 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Reference C tttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GACGTTGCATCG CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgacgttgcatcgAGATCGAGACCCGACGC chr5:56795016-Reference-C;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative A tttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CTAAGCCGTCAA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAActaagccgtcaaAGATCGAGACCCGACGC chr5:56795016-Alternative-A;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative A tttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag AAGGCTAATAGG CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAaaggctaataggAGATCGAGACCCGACGC chr5:56795016-Alternative-A;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Reference C tttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GCAGGTGATCTA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgcaggtgatctaAGATCGAGACCCGACGC chr5:56795016-Reference-C;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Reference C tttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CTGCGGACATGA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAActgcggacatgaAGATCGAGACCCGACGC chr5:56795016-Reference-C;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Reference C tttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag AGTTCAATGTGC CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAagttcaatgtgcAGATCGAGACCCGACGC chr5:56795016-Reference-C;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Reference C tttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CGGCTAAGGCAA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagCttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAcggctaaggcaaAGATCGAGACCCGACGC chr5:56795016-Reference-C;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative G tttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GCAACCTAGTAT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgcaacctagtatAGATCGAGACCCGACGC chr5:56795016-Alternative-G;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative A tttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GTCGTGACTCCT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgtcgtgactcctAGATCGAGACCCGACGC chr5:56795016-Alternative-A;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative G tttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CGGATCGACAAC CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAcggatcgacaacAGATCGAGACCCGACGC chr5:56795016-Alternative-G;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative A tttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag ATACCATCGCTT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAataccatcgcttAGATCGAGACCCGACGC chr5:56795016-Alternative-A;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Variant T tttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GTACTCGGAATT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgtactcggaattAGATCGAGACCCGACGC chr5:56795016-Variant-T;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative G tttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GAGGTAGGTATT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgaggtaggtattAGATCGAGACCCGACGC chr5:56795016-Alternative-G;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Variant T tttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CTCATGCTCGAC CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAActcatgctcgacAGATCGAGACCCGACGC chr5:56795016-Variant-T;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative G tttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CGACCACAATCA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAcgaccacaatcaAGATCGAGACCCGACGC chr5:56795016-Alternative-G;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative G tttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GGCGATTCCGAA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagGttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAggcgattccgaaAGATCGAGACCCGACGC chr5:56795016-Alternative-G;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Variant T tttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GATGGAACCTGG CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgatggaacctggAGATCGAGACCCGACGC chr5:56795016-Variant-T;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Variant T tttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag CAGTCGGCTGAT CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAcagtcggctgatAGATCGAGACCCGACGC chr5:56795016-Variant-T;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Alternative A tttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag GTATCAACAAGG CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagAttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAgtatcaacaaggAGATCGAGACCCGACGC chr5:56795016-Alternative-A;Patient-37 chr5:56795016-CT Inherited Patient-37 intergenic 0.000351 0.000513 0.36 7.94 2.72 ACTBL2 16379 Variant T tttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagag ATAGCGAATCGA CGACGCGGTCTCTCTCTtttttttttaagaaggcaaggagttctattgatttataatttccctagagTttattgttgtcttgctatgacccaaagaaaagcgtgtgtggaaagagagAGAGGGAGACGGACGTCTCAATAAatagcgaatcgaAGATCGAGACCCGACGC chr5:56795016-Variant-T;Patient-37 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative T tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGGAATGTCGGC CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAaggaatgtcggcAGATCGAGACCCGACGC chr5:588991-Alternative-T;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative T tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AAGATACAACCG CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAaagatacaaccgAGATCGAGACCCGACGC chr5:588991-Alternative-T;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative T tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac GTAATAGCAGCA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAgtaatagcagcaAGATCGAGACCCGACGC chr5:588991-Alternative-T;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative T tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGAGCTAACCGC CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAagagctaaccgcAGATCGAGACCCGACGC chr5:588991-Alternative-T;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative T tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac GTTCGCATAAGG CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccTggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAgttcgcataaggAGATCGAGACCCGACGC chr5:588991-Alternative-T;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Reference A tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac ATCAAGCAAGCT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAatcaagcaagctAGATCGAGACCCGACGC chr5:588991-Reference-A;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Reference A tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac ACAACGAGATCA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAacaacgagatcaAGATCGAGACCCGACGC chr5:588991-Reference-A;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Variant G tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGATAAGCAACC CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAagataagcaaccAGATCGAGACCCGACGC chr5:588991-Variant-G;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Reference A tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac ACCTCCTGAACG CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAacctcctgaacgAGATCGAGACCCGACGC chr5:588991-Reference-A;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Reference A tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac CGGATTGATAAC CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAcggattgataacAGATCGAGACCCGACGC chr5:588991-Reference-A;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative C tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac GGTTAAGGTCAA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAggttaaggtcaaAGATCGAGACCCGACGC chr5:588991-Alternative-C;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Reference A tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac GTGATAATACGC CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccAggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAgtgataatacgcAGATCGAGACCCGACGC chr5:588991-Reference-A;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative C tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGACCGTTGTGA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAagaccgttgtgaAGATCGAGACCCGACGC chr5:588991-Alternative-C;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Variant G tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGCAACACGATA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAagcaacacgataAGATCGAGACCCGACGC chr5:588991-Variant-G;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Variant G tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac CTCGTTAACACT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAActcgttaacactAGATCGAGACCCGACGC chr5:588991-Variant-G;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative C tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGGCGCGTAACT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAaggcgcgtaactAGATCGAGACCCGACGC chr5:588991-Alternative-C;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Variant G tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac CTCGTAATCTGT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAActcgtaatctgtAGATCGAGACCCGACGC chr5:588991-Variant-G;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative C tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac GCATCCGGACTT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAgcatccggacttAGATCGAGACCCGACGC chr5:588991-Alternative-C;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Alternative C tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac AGAACCTGTAGA CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccCggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAagaacctgtagaAGATCGAGACCCGACGC chr5:588991-Alternative-C;Patient-76 chr5:588991-AG Inherited Patient-76 intergenic NA 0.000513 -0.05 1.89 0.02 CEP72 23413 Variant G tcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccac ACCGGTAACATT CGACGCGGTCTCTCTCTtcattctgtgagcagcagctctggggtggcaatggacccacagcccatccGggctgtaatgcggagggtgtgcgttattcttggcacctgccatgcccacAGAGGGAGACGGACGTCTCAATAAaccggtaacattAGATCGAGACCCGACGC chr5:588991-Variant-G;Patient-76 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Reference A gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggt AGTGAACATCGA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAagtgaacatcgaAGATCGAGACCCGACGC chr5:60162125-Reference-A;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Reference A gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ACGCCAATCGAC CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAacgccaatcgacAGATCGAGACCCGACGC chr5:60162125-Reference-A;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Reference A gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ACGAGATCGGCA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAacgagatcggcaAGATCGAGACCCGACGC chr5:60162125-Reference-A;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Reference A gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggt GAATGTCGGTAA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAgaatgtcggtaaAGATCGAGACCCGACGC chr5:60162125-Reference-A;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Reference A gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ATCGGCAACTAA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggAgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAatcggcaactaaAGATCGAGACCCGACGC chr5:60162125-Reference-A;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative G gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CGACCGACTTCT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAcgaccgacttctAGATCGAGACCCGACGC chr5:60162125-Alternative-G;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Variant C gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ATCTTGCGGTCG CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAatcttgcggtcgAGATCGAGACCCGACGC chr5:60162125-Variant-C;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative T gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggt GTTGATCCGCCT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAgttgatccgcctAGATCGAGACCCGACGC chr5:60162125-Alternative-T;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Variant C gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CATAGACGTCGC CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAcatagacgtcgcAGATCGAGACCCGACGC chr5:60162125-Variant-C;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative T gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CTTACTATCGCT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAActtactatcgctAGATCGAGACCCGACGC chr5:60162125-Alternative-T;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Variant C gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CAACTGGTCAGT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAcaactggtcagtAGATCGAGACCCGACGC chr5:60162125-Variant-C;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative G gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ATCATCCGTACA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAatcatccgtacaAGATCGAGACCCGACGC chr5:60162125-Alternative-G;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative G gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggt AAGTTGGAACGC CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAaagttggaacgcAGATCGAGACCCGACGC chr5:60162125-Alternative-G;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative T gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggt GATTCACTGTCA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAgattcactgtcaAGATCGAGACCCGACGC chr5:60162125-Alternative-T;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative G gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CTGAACCTACAT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAActgaacctacatAGATCGAGACCCGACGC chr5:60162125-Alternative-G;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative T gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggt GATGAACCTCGA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAgatgaacctcgaAGATCGAGACCCGACGC chr5:60162125-Alternative-T;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative T gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ACATAGAGCGAG CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggTgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAacatagagcgagAGATCGAGACCCGACGC chr5:60162125-Alternative-T;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Alternative G gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggt GGCCGCTCAATT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggGgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAggccgctcaattAGATCGAGACCCGACGC chr5:60162125-Alternative-G;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Variant C gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggt ATTCGTTCGTGA CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAattcgttcgtgaAGATCGAGACCCGACGC chr5:60162125-Variant-C;Patient-78 chr5:60162125-AC Inherited Patient-78 intergenic 4.5e-05 0.000513 -0.15 1.01 0 ERCC8 78779 Variant C gaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggt CGACATCCAACT CGACGCGGTCTCTCTCTgaaggggagcatcacactctggaaactgttgtggggtggggggaggggggCgggatagcattgggagagatacctaatgctagatgacgagttagtgggtAGAGGGAGACGGACGTCTCAATAAcgacatccaactAGATCGAGACCCGACGC chr5:60162125-Variant-C;Patient-78 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative A attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc GGTTCGGATTGC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAggttcggattgcAGATCGAGACCCGACGC chr5:60315691-Alternative-A;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative C attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc GGTTGTGCGTGT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAggttgtgcgtgtAGATCGAGACCCGACGC chr5:60315691-Alternative-C;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative A attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CGGACTATACGG CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAcggactatacggAGATCGAGACCCGACGC chr5:60315691-Alternative-A;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative A attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CATGTTGCACAC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAcatgttgcacacAGATCGAGACCCGACGC chr5:60315691-Alternative-A;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative C attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc GTGATCCTGTGG CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAgtgatcctgtggAGATCGAGACCCGACGC chr5:60315691-Alternative-C;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative C attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc ACGATAATGCGT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAacgataatgcgtAGATCGAGACCCGACGC chr5:60315691-Alternative-C;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative A attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc GGCTCGAAGCAT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAggctcgaagcatAGATCGAGACCCGACGC chr5:60315691-Alternative-A;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Reference T attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CTTATCTGTCCT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAActtatctgtcctAGATCGAGACCCGACGC chr5:60315691-Reference-T;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative C attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CTTATCGTTGAC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAActtatcgttgacAGATCGAGACCCGACGC chr5:60315691-Alternative-C;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative A attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc GATACCGTGTGC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaAtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAgataccgtgtgcAGATCGAGACCCGACGC chr5:60315691-Alternative-A;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Reference T attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CTTACCTCCAAC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAActtacctccaacAGATCGAGACCCGACGC chr5:60315691-Reference-T;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Alternative C attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc ATTGTCCGCGAG CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaCtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAattgtccgcgagAGATCGAGACCCGACGC chr5:60315691-Alternative-C;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Reference T attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc AGCTTCGATTGA CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAagcttcgattgaAGATCGAGACCCGACGC chr5:60315691-Reference-T;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Reference T attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CATTAGGACGTT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAcattaggacgttAGATCGAGACCCGACGC chr5:60315691-Reference-T;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Reference T attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc AAGTCGATGAGT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaTtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAaagtcgatgagtAGATCGAGACCCGACGC chr5:60315691-Reference-T;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Variant G attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc ATAACGTGCGGC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAataacgtgcggcAGATCGAGACCCGACGC chr5:60315691-Variant-G;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Variant G attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CATCACCATGTT CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAcatcaccatgttAGATCGAGACCCGACGC chr5:60315691-Variant-G;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Variant G attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc CGGAACGTACAC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAcggaacgtacacAGATCGAGACCCGACGC chr5:60315691-Variant-G;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Variant G attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc AGCCGCGATAAC CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAagccgcgataacAGATCGAGACCCGACGC chr5:60315691-Variant-G;Patient-15 chr5:60315691-TG DeNovo Patient-15 intronic NDUFAF2 NA 3.92e-05 -0.01 2.43 0.18 NDUFAF2 74734 Variant G attatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtcc AGCTGAACGGAA CGACGCGGTCTCTCTCTattatgttcacctcttaaaaagagctgaatcatttccttctttttttctaGtctctggaacagattgtgtaaaacagaggttagatgttcctaagtgtccAGAGGGAGACGGACGTCTCAATAAagctgaacggaaAGATCGAGACCCGACGC chr5:60315691-Variant-G;Patient-15 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Variant C acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat CTATCGCAACGG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAActatcgcaacggAGATCGAGACCCGACGC chr5:60554645-Variant-C;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Variant C acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GTATCTTCGTGT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgtatcttcgtgtAGATCGAGACCCGACGC chr5:60554645-Variant-C;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Variant C acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat AATGAGCTTGCG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAaatgagcttgcgAGATCGAGACCCGACGC chr5:60554645-Variant-C;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Variant C acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GCCAGAGCTAAC CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgccagagctaacAGATCGAGACCCGACGC chr5:60554645-Variant-C;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Reference T acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat ATTCAAGCGGAA CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAattcaagcggaaAGATCGAGACCCGACGC chr5:60554645-Reference-T;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative A acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat CGGTATAGTACT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAcggtatagtactAGATCGAGACCCGACGC chr5:60554645-Alternative-A;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Reference T acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat CTGAGACACAGG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAActgagacacaggAGATCGAGACCCGACGC chr5:60554645-Reference-T;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative A acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GCAAGAACGGAG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgcaagaacggagAGATCGAGACCCGACGC chr5:60554645-Alternative-A;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Reference T acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat CTAGTCTAGCTT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAActagtctagcttAGATCGAGACCCGACGC chr5:60554645-Reference-T;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Reference T acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat ACAACCTAACGG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAacaacctaacggAGATCGAGACCCGACGC chr5:60554645-Reference-T;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative A acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat AGCTCTGTACTT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAagctctgtacttAGATCGAGACCCGACGC chr5:60554645-Alternative-A;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative G acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GCGTATACTATC CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgcgtatactatcAGATCGAGACCCGACGC chr5:60554645-Alternative-G;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative A acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat ATACGCAACGCT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAatacgcaacgctAGATCGAGACCCGACGC chr5:60554645-Alternative-A;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Reference T acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GTTAGGCCGACT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcTttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgttaggccgactAGATCGAGACCCGACGC chr5:60554645-Reference-T;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Variant C acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GGCGTAACGTAC CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcCttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAggcgtaacgtacAGATCGAGACCCGACGC chr5:60554645-Variant-C;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative G acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat AGACTGCCGTCT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAagactgccgtctAGATCGAGACCCGACGC chr5:60554645-Alternative-G;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative A acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GTCAGATCGACG CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcAttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgtcagatcgacgAGATCGAGACCCGACGC chr5:60554645-Alternative-A;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative G acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GCATCGATTGAT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgcatcgattgatAGATCGAGACCCGACGC chr5:60554645-Alternative-G;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative G acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat GACATCTGCCGT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAgacatctgccgtAGATCGAGACCCGACGC chr5:60554645-Alternative-G;Patient-27 chr5:60554645-TC DeNovo Patient-27 intergenic NA 0.000513 0.25 6.53 -0.57 ZSWIM6 73454 Alternative G acttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacat CGAGTATCAAGT CGACGCGGTCTCTCTCTacttttcattttaaacctttctgtatgatttgattctgtgcaaggactgcGttattttaaaatgtgaaatgtttttataaaaaagaaaaataggttacatAGAGGGAGACGGACGTCTCAATAAcgagtatcaagtAGATCGAGACCCGACGC chr5:60554645-Alternative-G;Patient-27 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative G aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GATGGTAGTTCT CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgatggtagttctAGATCGAGACCCGACGC chr5:60703508-Alternative-G;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Reference T aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga ACCACATAGCCA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAaccacatagccaAGATCGAGACCCGACGC chr5:60703508-Reference-T;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative G aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga AACGATCCATAC CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAaacgatccatacAGATCGAGACCCGACGC chr5:60703508-Alternative-G;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative G aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga ACTTACGGAGCT CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAacttacggagctAGATCGAGACCCGACGC chr5:60703508-Alternative-G;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative G aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GCGGCATGTCTA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgcggcatgtctaAGATCGAGACCCGACGC chr5:60703508-Alternative-G;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative G aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga CAGACGGCGATA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaGttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAcagacggcgataAGATCGAGACCCGACGC chr5:60703508-Alternative-G;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Reference T aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GTTGTTGGATGT CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgttgttggatgtAGATCGAGACCCGACGC chr5:60703508-Reference-T;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Reference T aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GAATATCCGGAA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgaatatccggaaAGATCGAGACCCGACGC chr5:60703508-Reference-T;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Reference T aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga AACTTGAGTAGG CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAaacttgagtaggAGATCGAGACCCGACGC chr5:60703508-Reference-T;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Variant A aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GAATTGGACAAC CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgaattggacaacAGATCGAGACCCGACGC chr5:60703508-Variant-A;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Variant A aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GCGGTGTAACAG CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgcggtgtaacagAGATCGAGACCCGACGC chr5:60703508-Variant-A;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Reference T aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga CAGCTTGGATTA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaTttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAcagcttggattaAGATCGAGACCCGACGC chr5:60703508-Reference-T;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative C aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga CTGCTGTACGTC CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAActgctgtacgtcAGATCGAGACCCGACGC chr5:60703508-Alternative-C;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative C aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga CGACGCATTACG CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAcgacgcattacgAGATCGAGACCCGACGC chr5:60703508-Alternative-C;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Variant A aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga CATGCTCTAAGA CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAcatgctctaagaAGATCGAGACCCGACGC chr5:60703508-Variant-A;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative C aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GTATTGAAGGAC CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgtattgaaggacAGATCGAGACCCGACGC chr5:60703508-Alternative-C;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative C aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GATAGTGGATAC CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgatagtggatacAGATCGAGACCCGACGC chr5:60703508-Alternative-C;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Variant A aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga AACTTCGTATGG CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAaacttcgtatggAGATCGAGACCCGACGC chr5:60703508-Variant-A;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Variant A aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GAGCCTTATCTT CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaAttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgagccttatcttAGATCGAGACCCGACGC chr5:60703508-Variant-A;Patient-91 chr5:60703508-TA Inherited Patient-91 intronic ZSWIM6 6.4e-05 4.95e-05 0.73 11.3 -2.48 ZSWIM6 75407 Alternative C aaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaaga GATTCGATAAGG CGACGCGGTCTCTCTCTaaagcagtaagaaaatgatgaacaaatagaaaaatgggcaaaggtgatgaCttaacagttcacagagaaatacaaatggcttctaaaatatataaaaagaAGAGGGAGACGGACGTCTCAATAAgattcgataaggAGATCGAGACCCGACGC chr5:60703508-Alternative-C;Patient-91 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative G taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca GCGTTAGACGTC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAgcgttagacgtcAGATCGAGACCCGACGC chr5:61582061-Alternative-G;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative G taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CGTCGCTCTAAC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcgtcgctctaacAGATCGAGACCCGACGC chr5:61582061-Alternative-G;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative A taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CAGCACCTATGG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcagcacctatggAGATCGAGACCCGACGC chr5:61582061-Alternative-A;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative G taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CGACATACTCAA CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcgacatactcaaAGATCGAGACCCGACGC chr5:61582061-Alternative-G;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative G taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CAGCGGATTGTC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcagcggattgtcAGATCGAGACCCGACGC chr5:61582061-Alternative-G;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Variant C taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca GCAAGATTAACG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAgcaagattaacgAGATCGAGACCCGACGC chr5:61582061-Variant-C;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative G taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca ACTCGGCAATTA CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttGtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAactcggcaattaAGATCGAGACCCGACGC chr5:61582061-Alternative-G;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative A taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CACTAGATACAC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcactagatacacAGATCGAGACCCGACGC chr5:61582061-Alternative-A;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative A taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CATTGGTAACGG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcattggtaacggAGATCGAGACCCGACGC chr5:61582061-Alternative-A;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative A taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca ACAGGTACTAAC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAacaggtactaacAGATCGAGACCCGACGC chr5:61582061-Alternative-A;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Reference T taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca AAGCGCTATCGG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAaagcgctatcggAGATCGAGACCCGACGC chr5:61582061-Reference-T;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Reference T taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca GTACTTGTTCAC CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAgtacttgttcacAGATCGAGACCCGACGC chr5:61582061-Reference-T;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Reference T taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca GACTACAACACT CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAgactacaacactAGATCGAGACCCGACGC chr5:61582061-Reference-T;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Variant C taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca AGTAAGCATCAG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAagtaagcatcagAGATCGAGACCCGACGC chr5:61582061-Variant-C;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Alternative A taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CTAGTCTTGGAA CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttAtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAActagtcttggaaAGATCGAGACCCGACGC chr5:61582061-Alternative-A;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Reference T taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca GCAAGATAGACG CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAgcaagatagacgAGATCGAGACCCGACGC chr5:61582061-Reference-T;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Variant C taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CGTGTCTAACTT CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcgtgtctaacttAGATCGAGACCCGACGC chr5:61582061-Variant-C;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Reference T taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CTTAACGGCATA CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttTtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAActtaacggcataAGATCGAGACCCGACGC chr5:61582061-Reference-T;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Variant C taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca AGCGTTAGGCGT CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAagcgttaggcgtAGATCGAGACCCGACGC chr5:61582061-Variant-C;Patient-79 chr5:61582061-TC DeNovo Patient-79 intergenic NA 0.000513 0.35 7.83 2.4 KIF2A 19927 Variant C taaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctcca CAGGATACGAAT CGACGCGGTCTCTCTCTtaaaaaggagtttcaacttaatcttatgagtaaacatttacaaaaattttCtgtgcataataattcctttctagaaataaaagttaaaaatgcatctccaAGAGGGAGACGGACGTCTCAATAAcaggatacgaatAGATCGAGACCCGACGC chr5:61582061-Variant-C;Patient-79 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative G gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GTAACGGCGAAC CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAgtaacggcgaacAGATCGAGACCCGACGC chr5:61587141-Alternative-G;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative G gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc CAATGGACCGGT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAcaatggaccggtAGATCGAGACCCGACGC chr5:61587141-Alternative-G;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative G gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GGATACGTGGAG CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAggatacgtggagAGATCGAGACCCGACGC chr5:61587141-Alternative-G;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Reference C gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ATAACTGCGAAG CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAataactgcgaagAGATCGAGACCCGACGC chr5:61587141-Reference-C;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Reference C gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc AGGAACGGCATC CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAaggaacggcatcAGATCGAGACCCGACGC chr5:61587141-Reference-C;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Reference C gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc AACGCCTGAAGG CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAaacgcctgaaggAGATCGAGACCCGACGC chr5:61587141-Reference-C;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Variant T gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc AGTACAGTCGTT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAagtacagtcgttAGATCGAGACCCGACGC chr5:61587141-Variant-T;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Reference C gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc CGAGTCGGACAT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAcgagtcggacatAGATCGAGACCCGACGC chr5:61587141-Reference-C;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Variant T gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GATCATAGCGAA CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAgatcatagcgaaAGATCGAGACCCGACGC chr5:61587141-Variant-T;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Variant T gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc AATAGACCACGA CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAaatagaccacgaAGATCGAGACCCGACGC chr5:61587141-Variant-T;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Variant T gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc CGCCACTTAATT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAcgccacttaattAGATCGAGACCCGACGC chr5:61587141-Variant-T;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative G gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc CGACCATCGTCT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAcgaccatcgtctAGATCGAGACCCGACGC chr5:61587141-Alternative-G;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative A gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GATTGTGGAGCG CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAgattgtggagcgAGATCGAGACCCGACGC chr5:61587141-Alternative-A;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative A gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ATCACGTACGAC CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAatcacgtacgacAGATCGAGACCCGACGC chr5:61587141-Alternative-A;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative G gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ACTGTTAGGTGT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccGgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAactgttaggtgtAGATCGAGACCCGACGC chr5:61587141-Alternative-G;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Reference C gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ATCGTGATGACG CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccCgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAatcgtgatgacgAGATCGAGACCCGACGC chr5:61587141-Reference-C;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Variant T gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ACAAGCCAAGAA CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccTgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAacaagccaagaaAGATCGAGACCCGACGC chr5:61587141-Variant-T;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative A gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GATACCTTACCT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAgataccttacctAGATCGAGACCCGACGC chr5:61587141-Alternative-A;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative A gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc GACATACGTGGT CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAgacatacgtggtAGATCGAGACCCGACGC chr5:61587141-Alternative-A;Patient-6 chr5:61587141-CT DeNovo Patient-6 intergenic NA 0.000513 -0.19 0.79 0.14 KIF2A 14847 Alternative A gatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggc ATCGTCAGCCAA CGACGCGGTCTCTCTCTgatcacgaggtcaggagatggagatcatcctagctaacacagttaaacccAgtctgtactaaatatacaaaaaaaaaattagctgggcgtggtggcaggcAGAGGGAGACGGACGTCTCAATAAatcgtcagccaaAGATCGAGACCCGACGC chr5:61587141-Alternative-A;Patient-6 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Reference C gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt ACGAGGTAGAGT CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAacgaggtagagtAGATCGAGACCCGACGC chr5:63224269-Reference-C;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Reference C gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt ACATCAAGCCGC CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAacatcaagccgcAGATCGAGACCCGACGC chr5:63224269-Reference-C;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Reference C gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GGCGGTACATTC CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAggcggtacattcAGATCGAGACCCGACGC chr5:63224269-Reference-C;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Reference C gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CGACATAGTGAA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAcgacatagtgaaAGATCGAGACCCGACGC chr5:63224269-Reference-C;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Reference C gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GCGCCACTATCA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcCctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgcgccactatcaAGATCGAGACCCGACGC chr5:63224269-Reference-C;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative A gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GCGGCTATACAC CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgcggctatacacAGATCGAGACCCGACGC chr5:63224269-Alternative-A;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative A gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcatt ATTCGGTTGAGT CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAattcggttgagtAGATCGAGACCCGACGC chr5:63224269-Alternative-A;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative A gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GATATCTCCGAA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgatatctccgaaAGATCGAGACCCGACGC chr5:63224269-Alternative-A;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative A gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CAACACGCAACC CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAcaacacgcaaccAGATCGAGACCCGACGC chr5:63224269-Alternative-A;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative A gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GATGACGGTGCA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcActttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgatgacggtgcaAGATCGAGACCCGACGC chr5:63224269-Alternative-A;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Variant T gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CGTCTATATTGC CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAcgtctatattgcAGATCGAGACCCGACGC chr5:63224269-Variant-T;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Variant T gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GCAACGGAGTGT CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgcaacggagtgtAGATCGAGACCCGACGC chr5:63224269-Variant-T;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Variant T gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CAATGAGCGAGA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAcaatgagcgagaAGATCGAGACCCGACGC chr5:63224269-Variant-T;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Variant T gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GTCGTGGTCTGA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgtcgtggtctgaAGATCGAGACCCGACGC chr5:63224269-Variant-T;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Variant T gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CTATCGACGTAA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcTctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAActatcgacgtaaAGATCGAGACCCGACGC chr5:63224269-Variant-T;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative G gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GGACGATCCATA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAggacgatccataAGATCGAGACCCGACGC chr5:63224269-Alternative-G;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative G gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GGTTGTTACGCG CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAggttgttacgcgAGATCGAGACCCGACGC chr5:63224269-Alternative-G;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative G gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt ACTTCGCGGTGT CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAacttcgcggtgtAGATCGAGACCCGACGC chr5:63224269-Alternative-G;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative G gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt GCGTTCGTTCGA CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAgcgttcgttcgaAGATCGAGACCCGACGC chr5:63224269-Alternative-G;Patient-30 chr5:63224269-CT Inherited Patient-30 intergenic 0.000669 0.00103 NA NA NA HTR1A 33849 Alternative G gcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcatt CATCGAGTAACG CGACGCGGTCTCTCTCTgcccaccccaggtgtgtgaaatgacatggtctttaattcctaacctcttcGctttcccatccttctcattaagaagaaagacaagacttcctgaagcattAGAGGGAGACGGACGTCTCAATAAcatcgagtaacgAGATCGAGACCCGACGC chr5:63224269-Alternative-G;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative C gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GATGAGAGTATC CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgatgagagtatcAGATCGAGACCCGACGC chr5:63234006-Alternative-C;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative C gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CAGTTAGGCGTC CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcagttaggcgtcAGATCGAGACCCGACGC chr5:63234006-Alternative-C;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative C gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CGAGTGGCGTAA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcgagtggcgtaaAGATCGAGACCCGACGC chr5:63234006-Alternative-C;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative C gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa ACAACAGTAGGT CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAacaacagtaggtAGATCGAGACCCGACGC chr5:63234006-Alternative-C;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative C gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GATGTGTGCGCT CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaCcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgatgtgtgcgctAGATCGAGACCCGACGC chr5:63234006-Alternative-C;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Reference A gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa AATCGGAATTCG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAaatcggaattcgAGATCGAGACCCGACGC chr5:63234006-Reference-A;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Reference A gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GTGTCTCTCACA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgtgtctctcacaAGATCGAGACCCGACGC chr5:63234006-Reference-A;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Reference A gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CATAACGCGGAC CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcataacgcggacAGATCGAGACCCGACGC chr5:63234006-Reference-A;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Reference A gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GTCAATTCGGCG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgtcaattcggcgAGATCGAGACCCGACGC chr5:63234006-Reference-A;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Reference A gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa AGATGGTCGGCA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaAcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAagatggtcggcaAGATCGAGACCCGACGC chr5:63234006-Reference-A;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative T gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CGATACAGTACG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcgatacagtacgAGATCGAGACCCGACGC chr5:63234006-Alternative-T;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative T gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CGAACCGTACGT CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcgaaccgtacgtAGATCGAGACCCGACGC chr5:63234006-Alternative-T;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative T gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CGTTCGTAGCCA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcgttcgtagccaAGATCGAGACCCGACGC chr5:63234006-Alternative-T;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative T gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GCCAATAACAAG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgccaataacaagAGATCGAGACCCGACGC chr5:63234006-Alternative-T;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Alternative T gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GTCAAGACGCGT CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaTcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgtcaagacgcgtAGATCGAGACCCGACGC chr5:63234006-Alternative-T;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Variant G gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GAAGAGCAGTAA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgaagagcagtaaAGATCGAGACCCGACGC chr5:63234006-Variant-G;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Variant G gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa GTTAACTTGCGA CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAgttaacttgcgaAGATCGAGACCCGACGC chr5:63234006-Variant-G;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Variant G gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa ATAGGTGACGCG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAataggtgacgcgAGATCGAGACCCGACGC chr5:63234006-Variant-G;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Variant G gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CGTACATTGGCG CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcgtacattggcgAGATCGAGACCCGACGC chr5:63234006-Variant-G;Patient-30 chr5:63234006-AG Inherited Patient-30 intergenic 0.000639 0.00103 NA NA NA HTR1A 24112 Variant G gaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaa CAACCACAGGAC CGACGCGGTCTCTCTCTgaaactagaaaaataagagcaaataacacaaatcaagcagaaagaaggaaGcaataaagaacagaaattaatgaaggtagaaaaacaaatctatagggaaAGAGGGAGACGGACGTCTCAATAAcaaccacaggacAGATCGAGACCCGACGC chr5:63234006-Variant-G;Patient-30 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative A ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GCATACGGAACT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgcatacggaactAGATCGAGACCCGACGC chr5:6376697-Alternative-A;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Variant C ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGAGTGTAGTAC CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAagagtgtagtacAGATCGAGACCCGACGC chr5:6376697-Variant-C;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative A ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct CTACGCGTAGTC CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAActacgcgtagtcAGATCGAGACCCGACGC chr5:6376697-Alternative-A;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative A ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AATGAGAGTAGG CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAaatgagagtaggAGATCGAGACCCGACGC chr5:6376697-Alternative-A;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Variant C ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GTAAGCGCTCGT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgtaagcgctcgtAGATCGAGACCCGACGC chr5:6376697-Variant-C;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative A ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GAATGTGTGCGG CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgaatgtgtgcggAGATCGAGACCCGACGC chr5:6376697-Alternative-A;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Variant C ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGGTTCGCGGAT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAaggttcgcggatAGATCGAGACCCGACGC chr5:6376697-Variant-C;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Variant C ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GCCAAGACCATT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgccaagaccattAGATCGAGACCCGACGC chr5:6376697-Variant-C;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative A ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGCGTCATATAC CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaAtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAagcgtcatatacAGATCGAGACCCGACGC chr5:6376697-Alternative-A;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Reference T ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GCGGATTCAATA CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgcggattcaataAGATCGAGACCCGACGC chr5:6376697-Reference-T;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Variant C ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GATACGCGCGAT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaCtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgatacgcgcgatAGATCGAGACCCGACGC chr5:6376697-Variant-C;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Reference T ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GTGAGGACATTA CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgtgaggacattaAGATCGAGACCCGACGC chr5:6376697-Reference-T;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Reference T ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct ATCTCTCACGAC CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAatctctcacgacAGATCGAGACCCGACGC chr5:6376697-Reference-T;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative G ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AATACGTACGAG CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAaatacgtacgagAGATCGAGACCCGACGC chr5:6376697-Alternative-G;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative G ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct CAAGGTTGCCGA CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAcaaggttgccgaAGATCGAGACCCGACGC chr5:6376697-Alternative-G;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Reference T ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGCCGTAACACG CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAagccgtaacacgAGATCGAGACCCGACGC chr5:6376697-Reference-T;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative G ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGACGTCCGTTA CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAagacgtccgttaAGATCGAGACCCGACGC chr5:6376697-Alternative-G;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative G ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct AGGACCATTACG CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAaggaccattacgAGATCGAGACCCGACGC chr5:6376697-Alternative-G;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Alternative G ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct GCGTCGTCGTAA CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaGtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAgcgtcgtcgtaaAGATCGAGACCCGACGC chr5:6376697-Alternative-G;Patient-62 chr5:6376697-TC DeNovo Patient-62 intronic MED10 0.000191 4.95e-05 -0.11 1.33 -4.05 MED10 1941 Reference T ctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcct CGTGTGCTCGTT CGACGCGGTCTCTCTCTctggattttaaaaatctaaaagctcattcctgtatgtgttctcaggactaTtactaacataggtgcacacaactctcgcacagaaaacagtgagcagcctAGAGGGAGACGGACGTCTCAATAAcgtgtgctcgttAGATCGAGACCCGACGC chr5:6376697-Reference-T;Patient-62 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative T atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa ACGAACGTGACG CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAacgaacgtgacgAGATCGAGACCCGACGC chr5:63973070-Alternative-T;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative T atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GTCAGATTCCAA CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgtcagattccaaAGATCGAGACCCGACGC chr5:63973070-Alternative-T;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative T atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa CGTAGTGTTCTT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAcgtagtgttcttAGATCGAGACCCGACGC chr5:63973070-Alternative-T;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative A atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa CGTTCCACGGAT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAcgttccacggatAGATCGAGACCCGACGC chr5:63973070-Alternative-A;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative T atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa AGTTGACTAAGG CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAagttgactaaggAGATCGAGACCCGACGC chr5:63973070-Alternative-T;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Reference C atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa CGCGCATACGAT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAcgcgcatacgatAGATCGAGACCCGACGC chr5:63973070-Reference-C;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Variant G atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa CGGATTAATGCT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAcggattaatgctAGATCGAGACCCGACGC chr5:63973070-Variant-G;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative A atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GGTGTTATAGTC CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAggtgttatagtcAGATCGAGACCCGACGC chr5:63973070-Alternative-A;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Reference C atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GCACGTAATCAT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgcacgtaatcatAGATCGAGACCCGACGC chr5:63973070-Reference-C;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Variant G atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GCGAAGGTTACG CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgcgaaggttacgAGATCGAGACCCGACGC chr5:63973070-Variant-G;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative A atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa ATAGCAGTTGCT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAatagcagttgctAGATCGAGACCCGACGC chr5:63973070-Alternative-A;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative A atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa AACTAATGACGC CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAaactaatgacgcAGATCGAGACCCGACGC chr5:63973070-Alternative-A;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Reference C atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa ATAGACATCGTC CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAatagacatcgtcAGATCGAGACCCGACGC chr5:63973070-Reference-C;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Reference C atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa CTATACCGTATC CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAActataccgtatcAGATCGAGACCCGACGC chr5:63973070-Reference-C;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative A atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GCGCGCAACATA CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacAgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgcgcgcaacataAGATCGAGACCCGACGC chr5:63973070-Alternative-A;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Reference C atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa ACGATAGGAACG CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacCgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAacgataggaacgAGATCGAGACCCGACGC chr5:63973070-Reference-C;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Variant G atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GATCCGCTGCAT CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgatccgctgcatAGATCGAGACCCGACGC chr5:63973070-Variant-G;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Alternative T atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa AAGGCTGTGGAC CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacTgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAaaggctgtggacAGATCGAGACCCGACGC chr5:63973070-Alternative-T;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Variant G atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa GTGAACGACATA CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAgtgaacgacataAGATCGAGACCCGACGC chr5:63973070-Variant-G;Patient-54 chr5:63973070-CG DeNovo Patient-54 intergenic NA 0.000513 -0.28 0.42 0.15 CWC27 91684 Variant G atccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataa ATAGGTAGCGAA CGACGCGGTCTCTCTCTatccgcccccctcggcctcccaaagtgctggaattacaggcttgagccacGgcgcccggcccgaagtcaggcaataatttatactacaagaaggaaataaAGAGGGAGACGGACGTCTCAATAAataggtagcgaaAGATCGAGACCCGACGC chr5:63973070-Variant-G;Patient-54 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative G tattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattat CGAGATATGCTT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgagatatgcttAGATCGAGACCCGACGC chr5:65314382-Alternative-G;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative G tattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattat GATGGTAAGGTT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAgatggtaaggttAGATCGAGACCCGACGC chr5:65314382-Alternative-G;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative G tattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattat CGATGAACCGAA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgatgaaccgaaAGATCGAGACCCGACGC chr5:65314382-Alternative-G;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative G tattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattat AGGCGTATGAAC CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAaggcgtatgaacAGATCGAGACCCGACGC chr5:65314382-Alternative-G;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative G tattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattat CTGTTAATACGC CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatGatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAActgttaatacgcAGATCGAGACCCGACGC chr5:65314382-Alternative-G;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Reference T tattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattat GACAACGCGACT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAgacaacgcgactAGATCGAGACCCGACGC chr5:65314382-Reference-T;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Reference T tattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattat AGCCTTGTAGTT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAagccttgtagttAGATCGAGACCCGACGC chr5:65314382-Reference-T;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Reference T tattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattat GGTGTCCGCTAA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAggtgtccgctaaAGATCGAGACCCGACGC chr5:65314382-Reference-T;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Reference T tattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattat GGTGGACGTAGT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAggtggacgtagtAGATCGAGACCCGACGC chr5:65314382-Reference-T;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Reference T tattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattat GTATCACTTGCT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatTatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAgtatcacttgctAGATCGAGACCCGACGC chr5:65314382-Reference-T;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Variant A tattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattat CGTTAGATTGGT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgttagattggtAGATCGAGACCCGACGC chr5:65314382-Variant-A;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative C tattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattat CGATCGGACGTT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgatcggacgttAGATCGAGACCCGACGC chr5:65314382-Alternative-C;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative C tattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattat CGTATACTATGG CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgtatactatggAGATCGAGACCCGACGC chr5:65314382-Alternative-C;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Variant A tattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattat CATTGTAGTCGA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcattgtagtcgaAGATCGAGACCCGACGC chr5:65314382-Variant-A;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Variant A tattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattat CGGCGTCAGTAA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcggcgtcagtaaAGATCGAGACCCGACGC chr5:65314382-Variant-A;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Variant A tattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattat CTACCGATGCGA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAActaccgatgcgaAGATCGAGACCCGACGC chr5:65314382-Variant-A;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative C tattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattat ACTACCGTATGA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAactaccgtatgaAGATCGAGACCCGACGC chr5:65314382-Alternative-C;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Variant A tattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattat CAGCATACGTAT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatAatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcagcatacgtatAGATCGAGACCCGACGC chr5:65314382-Variant-A;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative C tattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattat CGCGTATACCGT CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgcgtataccgtAGATCGAGACCCGACGC chr5:65314382-Alternative-C;Patient-101 chr5:65314382-TA DeNovo Patient-101 intronic ERBIN NA 9.9e-05 -0.19 0.76 0 ERBIN 91999 Alternative C tattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattat CGTAATAGCGAA CGACGCGGTCTCTCTCTtattatatattatataatatatattatattatataatatatattatatatCatataatatatattatattatataatatatattatataatatatattatAGAGGGAGACGGACGTCTCAATAAcgtaatagcgaaAGATCGAGACCCGACGC chr5:65314382-Alternative-C;Patient-101 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Reference T aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga AAGCGGCTCGTT CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAaagcggctcgttAGATCGAGACCCGACGC chr5:67513463-Reference-T;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Variant G aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CTTATATGGACG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAActtatatggacgAGATCGAGACCCGACGC chr5:67513463-Variant-G;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Variant G aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga AGATAGACGTCG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAagatagacgtcgAGATCGAGACCCGACGC chr5:67513463-Variant-G;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Variant G aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga AAGTGTTCGTGT CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAaagtgttcgtgtAGATCGAGACCCGACGC chr5:67513463-Variant-G;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Variant G aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CTCTGGTCATCG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAActctggtcatcgAGATCGAGACCCGACGC chr5:67513463-Variant-G;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Variant G aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga ACTCACGTCAAG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgGgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAactcacgtcaagAGATCGAGACCCGACGC chr5:67513463-Variant-G;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Reference T aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CATCGATTGTTC CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcatcgattgttcAGATCGAGACCCGACGC chr5:67513463-Reference-T;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative C aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CATCAGTCGCAG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcatcagtcgcagAGATCGAGACCCGACGC chr5:67513463-Alternative-C;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Reference T aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CGCCGAATATGG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcgccgaatatggAGATCGAGACCCGACGC chr5:67513463-Reference-T;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Reference T aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CGAACGATCGCT CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcgaacgatcgctAGATCGAGACCCGACGC chr5:67513463-Reference-T;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Reference T aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga ATAGCTTAGTCG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgTgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAatagcttagtcgAGATCGAGACCCGACGC chr5:67513463-Reference-T;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative A aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga GCGTTAGGATGG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAgcgttaggatggAGATCGAGACCCGACGC chr5:67513463-Alternative-A;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative A aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga GCAGGATAGCAA CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAgcaggatagcaaAGATCGAGACCCGACGC chr5:67513463-Alternative-A;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative C aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga AGCCGTATGTCG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAagccgtatgtcgAGATCGAGACCCGACGC chr5:67513463-Alternative-C;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative A aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CGTAGACGGAGA CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcgtagacggagaAGATCGAGACCCGACGC chr5:67513463-Alternative-A;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative A aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga GTTCCAATGCGC CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAgttccaatgcgcAGATCGAGACCCGACGC chr5:67513463-Alternative-A;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative C aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga CAAGCTCGGCAA CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAcaagctcggcaaAGATCGAGACCCGACGC chr5:67513463-Alternative-C;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative C aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga GATGCTAACAAG CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAgatgctaacaagAGATCGAGACCCGACGC chr5:67513463-Alternative-C;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative A aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga AGTGGCAATCTT CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgAgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAagtggcaatcttAGATCGAGACCCGACGC chr5:67513463-Alternative-A;Patient-69 chr5:67513463-TG DeNovo Patient-69 intronic PIK3R1 0.000491 0.000160205 -0.14 1.06 -6.08 PIK3R1 1878 Alternative C aagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttggga GTAACGGATCAA CGACGCGGTCTCTCTCTaagtgtttttgaccagtataaagaaaataagagtaatgtgtgggggtgtgCgtgtgtgtgtgtgtgtgtgcgcgcgcgtgcctgcggctaaagtttgggaAGAGGGAGACGGACGTCTCAATAAgtaacggatcaaAGATCGAGACCCGACGC chr5:67513463-Alternative-C;Patient-69 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative A caatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca ACGGCAAGTATA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAacggcaagtataAGATCGAGACCCGACGC chr5:70327540-Alternative-A;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Variant T caatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CTAGTGGTGCAC CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAActagtggtgcacAGATCGAGACCCGACGC chr5:70327540-Variant-T;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative A caatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca ATCTAGCGGTAA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAatctagcggtaaAGATCGAGACCCGACGC chr5:70327540-Alternative-A;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative A caatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca AGGTAACTCGCA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAaggtaactcgcaAGATCGAGACCCGACGC chr5:70327540-Alternative-A;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Variant T caatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GAGGTAGCTTAA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAgaggtagcttaaAGATCGAGACCCGACGC chr5:70327540-Variant-T;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative A caatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CTATACTGACCT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAActatactgacctAGATCGAGACCCGACGC chr5:70327540-Alternative-A;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Variant T caatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GGAAGTGAATGA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAggaagtgaatgaAGATCGAGACCCGACGC chr5:70327540-Variant-T;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative G caatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GATACACAACCG CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAgatacacaaccgAGATCGAGACCCGACGC chr5:70327540-Alternative-G;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Variant T caatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CATAAGGATGCA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAcataaggatgcaAGATCGAGACCCGACGC chr5:70327540-Variant-T;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Reference C caatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca AATGTGGTAGGT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAaatgtggtaggtAGATCGAGACCCGACGC chr5:70327540-Reference-C;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative A caatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GTCCGTCGTGTT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagAcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAgtccgtcgtgttAGATCGAGACCCGACGC chr5:70327540-Alternative-A;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative G caatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GTGTCTTGTCTA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAgtgtcttgtctaAGATCGAGACCCGACGC chr5:70327540-Alternative-G;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative G caatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca AACGGCTGGTAC CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAaacggctggtacAGATCGAGACCCGACGC chr5:70327540-Alternative-G;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative G caatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CATCGATGCGTC CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAcatcgatgcgtcAGATCGAGACCCGACGC chr5:70327540-Alternative-G;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Variant T caatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca AACCGCTTGATA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagTcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAaaccgcttgataAGATCGAGACCCGACGC chr5:70327540-Variant-T;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Reference C caatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CTCTGAGCATTC CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAActctgagcattcAGATCGAGACCCGACGC chr5:70327540-Reference-C;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Reference C caatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca GACTGATTACCT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAgactgattacctAGATCGAGACCCGACGC chr5:70327540-Reference-C;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Alternative G caatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CAGCGCGTAGAA CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagGcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAcagcgcgtagaaAGATCGAGACCCGACGC chr5:70327540-Alternative-G;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Reference C caatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca ACGTACGCGATT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAacgtacgcgattAGATCGAGACCCGACGC chr5:70327540-Reference-C;Patient-22 chr5:70327540-CT Inherited Patient-22 intergenic 0.000227 0.000243 0.81 11.93 0.2 GTF2H2 35956 Reference C caatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtca CACGGATCGCTT CGACGCGGTCTCTCTCTcaatggactgctcagaggggcagtttctccttataaaccttctggagaagCcccacactctaagtgaacacacttgctggaaggctcctgtatctcgtcaAGAGGGAGACGGACGTCTCAATAAcacggatcgcttAGATCGAGACCCGACGC chr5:70327540-Reference-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Variant C ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtg AGAGTATCTAGG CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAagagtatctaggAGATCGAGACCCGACGC chr5:70463231-Variant-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative A ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtg GTGTTATCTGCT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAgtgttatctgctAGATCGAGACCCGACGC chr5:70463231-Alternative-A;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Variant C ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtg AGATCCAACGCG CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAagatccaacgcgAGATCGAGACCCGACGC chr5:70463231-Variant-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative A ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtg AAGCGCTGACCA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAaagcgctgaccaAGATCGAGACCCGACGC chr5:70463231-Alternative-A;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Variant C ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtg GGCGTAAGTACA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAggcgtaagtacaAGATCGAGACCCGACGC chr5:70463231-Variant-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Variant C ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtg AACTTAGCTGAC CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAaacttagctgacAGATCGAGACCCGACGC chr5:70463231-Variant-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative A ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtg ACGGCGCGAATA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAacggcgcgaataAGATCGAGACCCGACGC chr5:70463231-Alternative-A;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative G ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtg ATACGGTTCCAA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAatacggttccaaAGATCGAGACCCGACGC chr5:70463231-Alternative-G;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative G ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtg GTGCTTGCTAGG CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAgtgcttgctaggAGATCGAGACCCGACGC chr5:70463231-Alternative-G;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative G ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtg AGGCGCCTATGA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAaggcgcctatgaAGATCGAGACCCGACGC chr5:70463231-Alternative-G;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Variant C ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtg CTGAATCGTGTT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaCtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAActgaatcgtgttAGATCGAGACCCGACGC chr5:70463231-Variant-C;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Reference T ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtg AAGGTGGTCGGT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAaaggtggtcggtAGATCGAGACCCGACGC chr5:70463231-Reference-T;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative A ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtg GTACACTTCGCT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAgtacacttcgctAGATCGAGACCCGACGC chr5:70463231-Alternative-A;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative A ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtg ACTATACAACGC CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaAtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAactatacaacgcAGATCGAGACCCGACGC chr5:70463231-Alternative-A;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative G ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtg GTGTTGCTCTTA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAgtgttgctcttaAGATCGAGACCCGACGC chr5:70463231-Alternative-G;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Alternative G ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtg CTATCCGTACAT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaGtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAActatccgtacatAGATCGAGACCCGACGC chr5:70463231-Alternative-G;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Reference T ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtg CAAGTACTCCAA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAcaagtactccaaAGATCGAGACCCGACGC chr5:70463231-Reference-T;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Reference T ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtg AGCCGGCATCTA CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAagccggcatctaAGATCGAGACCCGACGC chr5:70463231-Reference-T;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Reference T ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtg AATGCGCCGTCT CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAaatgcgccgtctAGATCGAGACCCGACGC chr5:70463231-Reference-T;Patient-22 chr5:70463231-TC DeNovo Patient-22 intergenic 0.000123 0.000487 0.45 8.87 0.21 GTF2H2 99733 Reference T ctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtg ACATCGTCTATC CGACGCGGTCTCTCTCTctagtagatttcaagtataaacatagatttaaagatagtttacagacaaaTtgtggattttatgttataatctcagattaatgattttttcctttttgtgAGAGGGAGACGGACGTCTCAATAAacatcgtctatcAGATCGAGACCCGACGC chr5:70463231-Reference-T;Patient-22 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative C cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GCACCTCTATTA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgcacctctattaAGATCGAGACCCGACGC chr5:71044188-Alternative-C;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative C cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GACTAAGCTTGT CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgactaagcttgtAGATCGAGACCCGACGC chr5:71044188-Alternative-C;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative C cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GTCGCGTAGAGT CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgtcgcgtagagtAGATCGAGACCCGACGC chr5:71044188-Alternative-C;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative C cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GATCGCCATCAG CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgatcgccatcagAGATCGAGACCCGACGC chr5:71044188-Alternative-C;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative C cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg ACTGGCGGTCAA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccCaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAactggcggtcaaAGATCGAGACCCGACGC chr5:71044188-Alternative-C;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Variant A cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CGTGCAAGAACG CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAcgtgcaagaacgAGATCGAGACCCGACGC chr5:71044188-Variant-A;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Reference G cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg ACTTAGCCACTT CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAacttagccacttAGATCGAGACCCGACGC chr5:71044188-Reference-G;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Reference G cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GTAGTAACGTGA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgtagtaacgtgaAGATCGAGACCCGACGC chr5:71044188-Reference-G;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Reference G cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CAACTAGTGCGA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAcaactagtgcgaAGATCGAGACCCGACGC chr5:71044188-Reference-G;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Reference G cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GGTAGACACCTA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAggtagacacctaAGATCGAGACCCGACGC chr5:71044188-Reference-G;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative T cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CGTTGTAGGTAA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAcgttgtaggtaaAGATCGAGACCCGACGC chr5:71044188-Alternative-T;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative T cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg AGCATTCGCGGT CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAagcattcgcggtAGATCGAGACCCGACGC chr5:71044188-Alternative-T;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative T cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CTCTGCGAATCG CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAActctgcgaatcgAGATCGAGACCCGACGC chr5:71044188-Alternative-T;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Reference G cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg AAGGACCGATTA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccGaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAaaggaccgattaAGATCGAGACCCGACGC chr5:71044188-Reference-G;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Variant A cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg AGCAACCAGATA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAagcaaccagataAGATCGAGACCCGACGC chr5:71044188-Variant-A;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Variant A cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg ACGATACGTTCA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAacgatacgttcaAGATCGAGACCCGACGC chr5:71044188-Variant-A;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Variant A cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CAGTTGCGGAGT CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAcagttgcggagtAGATCGAGACCCGACGC chr5:71044188-Variant-A;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative T cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg GTATTGCGGTTA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAgtattgcggttaAGATCGAGACCCGACGC chr5:71044188-Alternative-T;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Variant A cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg AACTAACCGCCA CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccAaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAaactaaccgccaAGATCGAGACCCGACGC chr5:71044188-Variant-A;Patient-21 chr5:71044188-GA DeNovo Patient-21 intergenic NA 0.000513 -0.11 1.29 -0.99 CARTPT 29197 Alternative T cagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtggg CGGACAATGTGG CGACGCGGTCTCTCTCTcagaaatagaagcacagcattatttagttatgatcagtgacgatacaaccTaacgaccttcacaccccctggagggccacagtgctgacaggcctgtgggAGAGGGAGACGGACGTCTCAATAAcggacaatgtggAGATCGAGACCCGACGC chr5:71044188-Alternative-T;Patient-21 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative C aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GCACGGTTAACC CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAgcacggttaaccAGATCGAGACCCGACGC chr5:7328585-Alternative-C;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative C aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GGACAGAGCGTT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAggacagagcgttAGATCGAGACCCGACGC chr5:7328585-Alternative-C;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative C aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GTTGTACCGGAG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAgttgtaccggagAGATCGAGACCCGACGC chr5:7328585-Alternative-C;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative G aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CAAGCCACTAGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAcaagccactagtAGATCGAGACCCGACGC chr5:7328585-Alternative-G;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative G aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg AGCGGTTACAGG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAagcggttacaggAGATCGAGACCCGACGC chr5:7328585-Alternative-G;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative G aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CTGAGTCGTACG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAActgagtcgtacgAGATCGAGACCCGACGC chr5:7328585-Alternative-G;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Reference T aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg ACCTATCAACGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAacctatcaacgtAGATCGAGACCCGACGC chr5:7328585-Reference-T;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative G aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg ACAGCGTATGGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAacagcgtatggtAGATCGAGACCCGACGC chr5:7328585-Alternative-G;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative G aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg AATAAGCACGAC CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaGccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAaataagcacgacAGATCGAGACCCGACGC chr5:7328585-Alternative-G;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Reference T aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CAAGTAACCAGA CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAcaagtaaccagaAGATCGAGACCCGACGC chr5:7328585-Reference-T;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Reference T aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GGCTAGTGGCTT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAggctagtggcttAGATCGAGACCCGACGC chr5:7328585-Reference-T;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Reference T aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg AGCATTGAGGCG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAagcattgaggcgAGATCGAGACCCGACGC chr5:7328585-Reference-T;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Reference T aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CACGTTCTGCGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaTccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAcacgttctgcgtAGATCGAGACCCGACGC chr5:7328585-Reference-T;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Variant A aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg AGATAACGACGG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAagataacgacggAGATCGAGACCCGACGC chr5:7328585-Variant-A;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Variant A aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GATTCGGCTACG CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAgattcggctacgAGATCGAGACCCGACGC chr5:7328585-Variant-A;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Variant A aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg GGATAACGATGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAggataacgatgtAGATCGAGACCCGACGC chr5:7328585-Variant-A;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Variant A aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg AGAACGCATTGA CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAagaacgcattgaAGATCGAGACCCGACGC chr5:7328585-Variant-A;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative C aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg ACGCCTGATTGT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAacgcctgattgtAGATCGAGACCCGACGC chr5:7328585-Alternative-C;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Alternative C aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CGTATACCGCCT CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaCccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAcgtataccgcctAGATCGAGACCCGACGC chr5:7328585-Alternative-C;Patient-30 chr5:7328585-TA Inherited Patient-30 intergenic 0.000191 0.000513 NA NA NA ADCY2 67757 Variant A aaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacg CGGCACGATCAA CGACGCGGTCTCTCTCTaaaagactttcccagcccccttcagctgtgatatatcttttccacacacaAccagatttccctacttaaaaatgcccacaaatgatactaaaatggcacgAGAGGGAGACGGACGTCTCAATAAcggcacgatcaaAGATCGAGACCCGACGC chr5:7328585-Variant-A;Patient-30 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Variant A ccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GCGCCGGTTATA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgcgccggttataAGATCGAGACCCGACGC chr5:7385155-Variant-A;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Variant A ccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa AGCCGACCAGAA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAagccgaccagaaAGATCGAGACCCGACGC chr5:7385155-Variant-A;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative T ccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GACTACGCATCG CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgactacgcatcgAGATCGAGACCCGACGC chr5:7385155-Alternative-T;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Reference C ccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa ATCTGTGTGCGC CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAatctgtgtgcgcAGATCGAGACCCGACGC chr5:7385155-Reference-C;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative T ccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa AGTCAAGTCGAG CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAagtcaagtcgagAGATCGAGACCCGACGC chr5:7385155-Alternative-T;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Reference C ccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa CGACGTTGCGTT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAcgacgttgcgttAGATCGAGACCCGACGC chr5:7385155-Reference-C;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Reference C ccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GATCGCGCGTAA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgatcgcgcgtaaAGATCGAGACCCGACGC chr5:7385155-Reference-C;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Variant A ccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa ACACATTCTAGG CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAacacattctaggAGATCGAGACCCGACGC chr5:7385155-Variant-A;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative T ccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa CGCTCGTATCGT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAcgctcgtatcgtAGATCGAGACCCGACGC chr5:7385155-Alternative-T;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Reference C ccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa ATAGTAACCGGT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAatagtaaccggtAGATCGAGACCCGACGC chr5:7385155-Reference-C;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Variant A ccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GTGTTAGGCGAG CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgtgttaggcgagAGATCGAGACCCGACGC chr5:7385155-Variant-A;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Reference C ccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GATGTCTAACCA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaCctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgatgtctaaccaAGATCGAGACCCGACGC chr5:7385155-Reference-C;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative T ccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GCGCACAACTAT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgcgcacaactatAGATCGAGACCCGACGC chr5:7385155-Alternative-T;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative T ccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GGCTTGTCATGG CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaTctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAggcttgtcatggAGATCGAGACCCGACGC chr5:7385155-Alternative-T;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative G ccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GTCCGTGAATTA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgtccgtgaattaAGATCGAGACCCGACGC chr5:7385155-Alternative-G;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Variant A ccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa CTCAAGTGTAGT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaActaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAActcaagtgtagtAGATCGAGACCCGACGC chr5:7385155-Variant-A;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative G ccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa AGGTACTGCGAA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAaggtactgcgaaAGATCGAGACCCGACGC chr5:7385155-Alternative-G;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative G ccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa CGAATCCGCGAT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAcgaatccgcgatAGATCGAGACCCGACGC chr5:7385155-Alternative-G;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative G ccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa CGACCACGAGAA CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAcgaccacgagaaAGATCGAGACCCGACGC chr5:7385155-Alternative-G;Patient-100 chr5:7385155-CA DeNovo Patient-100 intergenic 0.000143 3.91e-05 -0.19 0.75 0.23 ADCY2 11187 Alternative G ccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaa GCAACTGGTCGT CGACGCGGTCTCTCTCTccccattatataaatataaatataaatataaatataacctttttatataaGctaatctcataaaaatacaatctgtataattcaaggtagtgtaaataaaAGAGGGAGACGGACGTCTCAATAAgcaactggtcgtAGATCGAGACCCGACGC chr5:7385155-Alternative-G;Patient-100 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative G tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ATCGACAACGGT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAatcgacaacggtAGATCGAGACCCGACGC chr5:73878083-Alternative-G;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative G tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CTACAAGTTAGG CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAActacaagttaggAGATCGAGACCCGACGC chr5:73878083-Alternative-G;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative G tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CGTACGGATAGG CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAcgtacggataggAGATCGAGACCCGACGC chr5:73878083-Alternative-G;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative G tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CGTAGTAGCCGA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAcgtagtagccgaAGATCGAGACCCGACGC chr5:73878083-Alternative-G;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative G tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CACTATGTTGCT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcGgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAcactatgttgctAGATCGAGACCCGACGC chr5:73878083-Alternative-G;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative A tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ATTCGGCGTATA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAattcggcgtataAGATCGAGACCCGACGC chr5:73878083-Alternative-A;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Reference T tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CGTGCTTGTAAT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAcgtgcttgtaatAGATCGAGACCCGACGC chr5:73878083-Reference-T;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Variant C tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CTTGTCGTAAGA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAActtgtcgtaagaAGATCGAGACCCGACGC chr5:73878083-Variant-C;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Variant C tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa AGCAGAACGTAA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAagcagaacgtaaAGATCGAGACCCGACGC chr5:73878083-Variant-C;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Reference T tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ATAGGTGGACTA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAataggtggactaAGATCGAGACCCGACGC chr5:73878083-Reference-T;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative A tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ACACGAGAATGT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAacacgagaatgtAGATCGAGACCCGACGC chr5:73878083-Alternative-A;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Variant C tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa GACGAGTCATTA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAgacgagtcattaAGATCGAGACCCGACGC chr5:73878083-Variant-C;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Variant C tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa AGCTCTGACTAA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAagctctgactaaAGATCGAGACCCGACGC chr5:73878083-Variant-C;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Reference T tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ATTCGGCACCAC CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAattcggcaccacAGATCGAGACCCGACGC chr5:73878083-Reference-T;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative A tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CTGGTAGTAAGA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAActggtagtaagaAGATCGAGACCCGACGC chr5:73878083-Alternative-A;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Variant C tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa AGAGCATCAGGT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcCgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAagagcatcaggtAGATCGAGACCCGACGC chr5:73878083-Variant-C;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative A tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa GGATCGACTACC CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAggatcgactaccAGATCGAGACCCGACGC chr5:73878083-Alternative-A;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Alternative A tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa CAGTAGCCGATT CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcAgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAcagtagccgattAGATCGAGACCCGACGC chr5:73878083-Alternative-A;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Reference T tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa GGCTTGCTAACG CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAggcttgctaacgAGATCGAGACCCGACGC chr5:73878083-Reference-T;Patient-22 chr5:73878083-TC Inherited Patient-22 intergenic 0.000765 0.00103 -0.24 0.56 -1.33 ENC1 59165 Reference T tcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaa ATCAAGGCACCA CGACGCGGTCTCTCTCTtcaaaagaggcgccgcagctgacgcctataatcctagcactttgagaggcTgaggtgggtggattttttgagcccaggagttcaagactggcctggacaaAGAGGGAGACGGACGTCTCAATAAatcaaggcaccaAGATCGAGACCCGACGC chr5:73878083-Reference-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative C cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GATAACGAAGTC CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAgataacgaagtcAGATCGAGACCCGACGC chr5:74644481-Alternative-C;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Reference A cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CACGCATGCTTC CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAcacgcatgcttcAGATCGAGACCCGACGC chr5:74644481-Reference-A;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative C cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg AACGTAGACCTT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAaacgtagaccttAGATCGAGACCCGACGC chr5:74644481-Alternative-C;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Reference A cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GGTTGACTTCTT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAggttgacttcttAGATCGAGACCCGACGC chr5:74644481-Reference-A;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative T cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg ACGTAGGTGTAA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAacgtaggtgtaaAGATCGAGACCCGACGC chr5:74644481-Alternative-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative C cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GGTGGTCCTGAT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAggtggtcctgatAGATCGAGACCCGACGC chr5:74644481-Alternative-C;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative T cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GATTAGCCAAGA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAgattagccaagaAGATCGAGACCCGACGC chr5:74644481-Alternative-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Reference A cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GATCCGACACCT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAgatccgacacctAGATCGAGACCCGACGC chr5:74644481-Reference-A;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Reference A cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg ATACCGTCCGAA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAataccgtccgaaAGATCGAGACCCGACGC chr5:74644481-Reference-A;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Reference A cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GGCGTCTGGTAT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagAaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAggcgtctggtatAGATCGAGACCCGACGC chr5:74644481-Reference-A;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative C cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg AAGGTGGCTATA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAaaggtggctataAGATCGAGACCCGACGC chr5:74644481-Alternative-C;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative T cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CTCGCACTTCCT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAActcgcacttcctAGATCGAGACCCGACGC chr5:74644481-Alternative-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative T cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CAGTCCGTGTGA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAcagtccgtgtgaAGATCGAGACCCGACGC chr5:74644481-Alternative-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative T cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg AGTTCTGTGCGG CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagTaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAagttctgtgcggAGATCGAGACCCGACGC chr5:74644481-Alternative-T;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Variant G cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GACCGCGTTAAT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAgaccgcgttaatAGATCGAGACCCGACGC chr5:74644481-Variant-G;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Alternative C cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg GCCTTACATTGA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagCaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAgccttacattgaAGATCGAGACCCGACGC chr5:74644481-Alternative-C;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Variant G cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CAGCAGCGCTAT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAcagcagcgctatAGATCGAGACCCGACGC chr5:74644481-Variant-G;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Variant G cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CATGCCTATCGA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAcatgcctatcgaAGATCGAGACCCGACGC chr5:74644481-Variant-G;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Variant G cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg ATTCACAGTCGA CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAattcacagtcgaAGATCGAGACCCGACGC chr5:74644481-Variant-G;Patient-22 chr5:74644481-AG Inherited Patient-22 intronic HMGCR NA 4.95e-05 0.23 6.22 1.32 HMGCR 11487 Variant G cacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtg CGGTGGACACAT CGACGCGGTCTCTCTCTcacatattaacttggaagtaaccctttgaaaaagccagtacaaaaagaagGaagtcttagcttcttggatgtctgtggattggtgctgtttctttgtgtgAGAGGGAGACGGACGTCTCAATAAcggtggacacatAGATCGAGACCCGACGC chr5:74644481-Variant-G;Patient-22 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Variant C tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CGCTTCGGTAGA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcgcttcggtagaAGATCGAGACCCGACGC chr5:75702362-Variant-C;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Variant C tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa GTATTCTGAACG CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAgtattctgaacgAGATCGAGACCCGACGC chr5:75702362-Variant-C;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative G tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CGCATTACTGTT CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcgcattactgttAGATCGAGACCCGACGC chr5:75702362-Alternative-G;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Variant C tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AGCTTCTTAGTC CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAagcttcttagtcAGATCGAGACCCGACGC chr5:75702362-Variant-C;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Variant C tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AGCAACGGCCAA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAagcaacggccaaAGATCGAGACCCGACGC chr5:75702362-Variant-C;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative G tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CTTGGTAGAACG CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAActtggtagaacgAGATCGAGACCCGACGC chr5:75702362-Alternative-G;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative G tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AGTGAATTCGTC CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAagtgaattcgtcAGATCGAGACCCGACGC chr5:75702362-Alternative-G;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Variant C tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AACACGGTAACA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcCatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAaacacggtaacaAGATCGAGACCCGACGC chr5:75702362-Variant-C;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Reference T tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AATGGTTAGACG CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAaatggttagacgAGATCGAGACCCGACGC chr5:75702362-Reference-T;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Reference T tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CAGATAACGTCC CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcagataacgtccAGATCGAGACCCGACGC chr5:75702362-Reference-T;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative G tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa GCAGTAACAAGG CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAgcagtaacaaggAGATCGAGACCCGACGC chr5:75702362-Alternative-G;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative A tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa GTATTCGGTAGA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAgtattcggtagaAGATCGAGACCCGACGC chr5:75702362-Alternative-A;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative A tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa GTGCCGCTATGA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAgtgccgctatgaAGATCGAGACCCGACGC chr5:75702362-Alternative-A;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative G tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CGGAGTTGGCAA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcGatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcggagttggcaaAGATCGAGACCCGACGC chr5:75702362-Alternative-G;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Reference T tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa GTTACTGGTCGG CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAgttactggtcggAGATCGAGACCCGACGC chr5:75702362-Reference-T;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Reference T tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CACGTCCTTGCA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcacgtccttgcaAGATCGAGACCCGACGC chr5:75702362-Reference-T;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative A tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa AGCCAAGAATCA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAagccaagaatcaAGATCGAGACCCGACGC chr5:75702362-Alternative-A;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Reference T tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa ACGCAATCCGGT CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcTatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAacgcaatccggtAGATCGAGACCCGACGC chr5:75702362-Reference-T;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative A tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa ACACACGCGCTT CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAacacacgcgcttAGATCGAGACCCGACGC chr5:75702362-Alternative-A;Patient-87 chr5:75702362-TC Inherited Patient-87 intronic IQGAP2 NA 4.95e-05 0.16 5.3 1.54 IQGAP2 3287 Alternative A tgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaa CGATCAGGAATA CGACGCGGTCTCTCTCTtgcagacatagacatagtatgtactatatattgtatgtatagtatttttcAatactcaaccaaattaagatgacacttacgcttaggtgtgatttgcgaaAGAGGGAGACGGACGTCTCAATAAcgatcaggaataAGATCGAGACCCGACGC chr5:75702362-Alternative-A;Patient-87 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative C accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgt CTAACGTGACTA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAActaacgtgactaAGATCGAGACCCGACGC chr5:76141234-Alternative-C;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative C accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgt ACGTGTTGTAGT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAacgtgttgtagtAGATCGAGACCCGACGC chr5:76141234-Alternative-C;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative C accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgt GCATTGTGGATT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgcattgtggattAGATCGAGACCCGACGC chr5:76141234-Alternative-C;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative C accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgt CAGCTTGGATAT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAcagcttggatatAGATCGAGACCCGACGC chr5:76141234-Alternative-C;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative C accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgt AGCACGCACGTT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctCcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAagcacgcacgttAGATCGAGACCCGACGC chr5:76141234-Alternative-C;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Variant A accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgt CGGCTCTGTATC CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAcggctctgtatcAGATCGAGACCCGACGC chr5:76141234-Variant-A;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Reference G accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgt GACGCATTCCAT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgacgcattccatAGATCGAGACCCGACGC chr5:76141234-Reference-G;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Variant A accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgt GAGTTGCTCCGA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgagttgctccgaAGATCGAGACCCGACGC chr5:76141234-Variant-A;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Variant A accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgt GTGATCAACGTT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgtgatcaacgttAGATCGAGACCCGACGC chr5:76141234-Variant-A;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Variant A accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgt CTTGAACCTAGA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAActtgaacctagaAGATCGAGACCCGACGC chr5:76141234-Variant-A;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Reference G accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgt AGATATCGGCTA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAagatatcggctaAGATCGAGACCCGACGC chr5:76141234-Reference-G;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Reference G accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgt GTGCTTCGGTTC CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgtgcttcggttcAGATCGAGACCCGACGC chr5:76141234-Reference-G;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Variant A accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgt ATCTATCGTACC CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctAcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAatctatcgtaccAGATCGAGACCCGACGC chr5:76141234-Variant-A;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Reference G accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgt CTAAGTACGTCA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAActaagtacgtcaAGATCGAGACCCGACGC chr5:76141234-Reference-G;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative T accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgt GATGTGGTCGTC CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgatgtggtcgtcAGATCGAGACCCGACGC chr5:76141234-Alternative-T;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative T accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgt GATTGTTCGAGA CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgattgttcgagaAGATCGAGACCCGACGC chr5:76141234-Alternative-T;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative T accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgt GACTGCGGTTCT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAgactgcggttctAGATCGAGACCCGACGC chr5:76141234-Alternative-T;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Reference G accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgt CGGTGAGGTTGT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctGcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAcggtgaggttgtAGATCGAGACCCGACGC chr5:76141234-Reference-G;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative T accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgt ACATGCGAATGT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAacatgcgaatgtAGATCGAGACCCGACGC chr5:76141234-Alternative-T;Patient-22 chr5:76141234-GA Inherited Patient-22 intergenic NA 0.000512821 0.48 9.21 0 F2RL1 26431 Alternative T accacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgt AAGTACGAACGT CGACGCGGTCTCTCTCTaccacaaacaatagcctgagcgatcagtgccttaaggacatgctcctgctTcagataactagccagacccacccctttatttcagcccatcccttcgtgtAGAGGGAGACGGACGTCTCAATAAaagtacgaacgtAGATCGAGACCCGACGC chr5:76141234-Alternative-T;Patient-22 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative T ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca AAGCAGTTGTGA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAaagcagttgtgaAGATCGAGACCCGACGC chr5:76287058-Alternative-T;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative G ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GAAGAGTGTGAA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgaagagtgtgaaAGATCGAGACCCGACGC chr5:76287058-Alternative-G;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative G ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CTCGTAGCGAGT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAActcgtagcgagtAGATCGAGACCCGACGC chr5:76287058-Alternative-G;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative G ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GCACCTCGAACT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgcacctcgaactAGATCGAGACCCGACGC chr5:76287058-Alternative-G;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative T ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca ATCTCGTAGCTT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAatctcgtagcttAGATCGAGACCCGACGC chr5:76287058-Alternative-T;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Reference A ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GCATTCTGGTAA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgcattctggtaaAGATCGAGACCCGACGC chr5:76287058-Reference-A;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative G ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GGACAGAGGTTC CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAggacagaggttcAGATCGAGACCCGACGC chr5:76287058-Alternative-G;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative G ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CTGGCGTCCTAT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagGtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAActggcgtcctatAGATCGAGACCCGACGC chr5:76287058-Alternative-G;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Reference A ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca ACGCAGTTCTAA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAacgcagttctaaAGATCGAGACCCGACGC chr5:76287058-Reference-A;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Reference A ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CTGAGTTCCGGT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAActgagttccggtAGATCGAGACCCGACGC chr5:76287058-Reference-A;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Reference A ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GTTCGTATGCTT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgttcgtatgcttAGATCGAGACCCGACGC chr5:76287058-Reference-A;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative T ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CGCGTTGCATGT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAcgcgttgcatgtAGATCGAGACCCGACGC chr5:76287058-Alternative-T;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative T ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CTCGCGTTATGC CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAActcgcgttatgcAGATCGAGACCCGACGC chr5:76287058-Alternative-T;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Alternative T ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca AATGCACCAACA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagTtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAaatgcaccaacaAGATCGAGACCCGACGC chr5:76287058-Alternative-T;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Reference A ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GTGAATCATCGC CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagAtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgtgaatcatcgcAGATCGAGACCCGACGC chr5:76287058-Reference-A;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Variant C ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca ATACCGGCACGA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAataccggcacgaAGATCGAGACCCGACGC chr5:76287058-Variant-C;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Variant C ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca CATCCATTGGAA CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAcatccattggaaAGATCGAGACCCGACGC chr5:76287058-Variant-C;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Variant C ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GAATCGTATCGT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgaatcgtatcgtAGATCGAGACCCGACGC chr5:76287058-Variant-C;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Variant C ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GTATTCATTCGC CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgtattcattcgcAGATCGAGACCCGACGC chr5:76287058-Variant-C;Patient-55 chr5:76287058-AC Inherited Patient-55 intergenic NA 0.000513 0.09 4.03 0.8 AGGF1 39151 Variant C ctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactca GTCAACGCAACT CGACGCGGTCTCTCTCTctgctgatttcaagcccaacaccagaagcagaagctgccttcttacatagCtggcttaaccacctcccacatctgcatatctatccctatgtgtcactcaAGAGGGAGACGGACGTCTCAATAAgtcaacgcaactAGATCGAGACCCGACGC chr5:76287058-Variant-C;Patient-55 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative C tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CACGCTTCTCGA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAcacgcttctcgaAGATCGAGACCCGACGC chr5:77071439-Alternative-C;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative C tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CGAGTTATTCCT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAcgagttattcctAGATCGAGACCCGACGC chr5:77071439-Alternative-C;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative C tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CTCGCTATACCA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAActcgctataccaAGATCGAGACCCGACGC chr5:77071439-Alternative-C;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative C tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CTCGGATTGAGA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAActcggattgagaAGATCGAGACCCGACGC chr5:77071439-Alternative-C;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative C tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct AATGCTCGTGAA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcCgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAaatgctcgtgaaAGATCGAGACCCGACGC chr5:77071439-Alternative-C;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Variant A tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CAGTTGACTCTT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAcagttgactcttAGATCGAGACCCGACGC chr5:77071439-Variant-A;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Reference G tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GATAGCAACGAT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAgatagcaacgatAGATCGAGACCCGACGC chr5:77071439-Reference-G;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Reference G tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GGATGACTGGAC CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAggatgactggacAGATCGAGACCCGACGC chr5:77071439-Reference-G;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Variant A tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CGCGTAATCATA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAcgcgtaatcataAGATCGAGACCCGACGC chr5:77071439-Variant-A;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Reference G tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GCAGGTATTGAA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAgcaggtattgaaAGATCGAGACCCGACGC chr5:77071439-Reference-G;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Variant A tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct ACCTAGTGCGAG CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAacctagtgcgagAGATCGAGACCCGACGC chr5:77071439-Variant-A;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Variant A tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GCCAAGCGCATT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAgccaagcgcattAGATCGAGACCCGACGC chr5:77071439-Variant-A;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Reference G tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct ACCTCCAATGAA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAacctccaatgaaAGATCGAGACCCGACGC chr5:77071439-Reference-G;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative T tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct ATTGTCTCGCTA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAattgtctcgctaAGATCGAGACCCGACGC chr5:77071439-Alternative-T;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative T tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct ACTGGCACAATC CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAactggcacaatcAGATCGAGACCCGACGC chr5:77071439-Alternative-T;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative T tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct CTACGCCACATA CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAActacgccacataAGATCGAGACCCGACGC chr5:77071439-Alternative-T;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Reference G tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct AGCATCTACGGC CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcGgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAagcatctacggcAGATCGAGACCCGACGC chr5:77071439-Reference-G;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative T tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GCAGTATGGTGG CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAgcagtatggtggAGATCGAGACCCGACGC chr5:77071439-Alternative-T;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Variant A tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct AACGATTCACGT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcAgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAaacgattcacgtAGATCGAGACCCGACGC chr5:77071439-Variant-A;Patient-91 chr5:77071439-GA DeNovo Patient-91 intronic TBCA NA 4.95e-05 0.37 8.05 1.35 TBCA 745 Alternative T tggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgct GACTAAGGCCAT CGACGCGGTCTCTCTCTtggttcacaagttatttaaacagcatctcacagcctctggggcgagcttcTgggaatctgactggagaaagtgaggccacataagtttgctgagtgtgctAGAGGGAGACGGACGTCTCAATAAgactaaggccatAGATCGAGACCCGACGC chr5:77071439-Alternative-T;Patient-91 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Reference G gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AGTCGTCGACGT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAagtcgtcgacgtAGATCGAGACCCGACGC chr5:78747490-Reference-G;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Reference G gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AGCAGTTGTGAA CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAagcagttgtgaaAGATCGAGACCCGACGC chr5:78747490-Reference-G;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Reference G gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac CACGCAACACCT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAcacgcaacacctAGATCGAGACCCGACGC chr5:78747490-Reference-G;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Reference G gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GGTACGACCAAG CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAggtacgaccaagAGATCGAGACCCGACGC chr5:78747490-Reference-G;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative T gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac ACACGATCTAAC CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAacacgatctaacAGATCGAGACCCGACGC chr5:78747490-Alternative-T;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative T gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GCGCGATTACGA CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAgcgcgattacgaAGATCGAGACCCGACGC chr5:78747490-Alternative-T;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative T gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac CGACGTCCTTGT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAcgacgtccttgtAGATCGAGACCCGACGC chr5:78747490-Alternative-T;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Variant A gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GCATATGGCGAT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAgcatatggcgatAGATCGAGACCCGACGC chr5:78747490-Variant-A;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative T gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AGATGTTCCGCG CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAagatgttccgcgAGATCGAGACCCGACGC chr5:78747490-Alternative-T;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Variant A gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac ACACATATGCGT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAacacatatgcgtAGATCGAGACCCGACGC chr5:78747490-Variant-A;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Reference G gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GTAGGATTGACT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacGccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAgtaggattgactAGATCGAGACCCGACGC chr5:78747490-Reference-G;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative C gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac CGCGTCAGACTT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAcgcgtcagacttAGATCGAGACCCGACGC chr5:78747490-Alternative-C;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative T gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AATGGAATACGG CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacTccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAaatggaatacggAGATCGAGACCCGACGC chr5:78747490-Alternative-T;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative C gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AACGGCGCTAAC CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAaacggcgctaacAGATCGAGACCCGACGC chr5:78747490-Alternative-C;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Variant A gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GCACCTCGTCAT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAgcacctcgtcatAGATCGAGACCCGACGC chr5:78747490-Variant-A;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Variant A gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac CGAGGTACGAAG CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAcgaggtacgaagAGATCGAGACCCGACGC chr5:78747490-Variant-A;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Variant A gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac GTAGAGTCCGTC CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacAccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAgtagagtccgtcAGATCGAGACCCGACGC chr5:78747490-Variant-A;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative C gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac CTATGTACTCGA CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAActatgtactcgaAGATCGAGACCCGACGC chr5:78747490-Alternative-C;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative C gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac ATCGCACGCGAT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAatcgcacgcgatAGATCGAGACCCGACGC chr5:78747490-Alternative-C;Patient-90 chr5:78747490-GA DeNovo Patient-90 intronic HOMER1 NA 4.95e-05 -0.01 2.46 0.15 HOMER1 62168 Alternative C gtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccac AATAAGCGACGT CGACGCGGTCTCTCTCTgtgcagtggcgtgatctcggctaactgcaagctccaactcccgggttcacCccattctcctgcctcagcctcctgagtagctgggactacaggcgcccacAGAGGGAGACGGACGTCTCAATAAaataagcgacgtAGATCGAGACCCGACGC chr5:78747490-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Variant G gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc AACAACGTCGCG CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAaacaacgtcgcgAGATCGAGACCCGACGC chr5:78831475-Variant-G;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Variant G gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc GGTCAGTTACGC CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAggtcagttacgcAGATCGAGACCCGACGC chr5:78831475-Variant-G;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Variant G gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc ATCGCGCTGAGA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAatcgcgctgagaAGATCGAGACCCGACGC chr5:78831475-Variant-G;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative T gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CTCGCGCATTGT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAActcgcgcattgtAGATCGAGACCCGACGC chr5:78831475-Alternative-T;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Variant G gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc GAATTACCGGCA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAgaattaccggcaAGATCGAGACCCGACGC chr5:78831475-Variant-G;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative T gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc AGCTTCGCGTAC CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAagcttcgcgtacAGATCGAGACCCGACGC chr5:78831475-Alternative-T;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative C gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc GCATATCGCATT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAgcatatcgcattAGATCGAGACCCGACGC chr5:78831475-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative C gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc GTACCGAATCAG CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAgtaccgaatcagAGATCGAGACCCGACGC chr5:78831475-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative C gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc ACGTTCTGCCGA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAacgttctgccgaAGATCGAGACCCGACGC chr5:78831475-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative C gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CGTACCAGTACC CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAcgtaccagtaccAGATCGAGACCCGACGC chr5:78831475-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Reference A gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CGAATCCGTAAT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAcgaatccgtaatAGATCGAGACCCGACGC chr5:78831475-Reference-A;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Variant G gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc AAGTGGCATGTT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaGgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAaagtggcatgttAGATCGAGACCCGACGC chr5:78831475-Variant-G;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Reference A gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc ACTACCAGTCGG CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAactaccagtcggAGATCGAGACCCGACGC chr5:78831475-Reference-A;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative C gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CATCGTTACAAC CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaCgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAcatcgttacaacAGATCGAGACCCGACGC chr5:78831475-Alternative-C;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Reference A gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc ATATGGCTGCGA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAatatggctgcgaAGATCGAGACCCGACGC chr5:78831475-Reference-A;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative T gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CTTATTGTCGAC CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAActtattgtcgacAGATCGAGACCCGACGC chr5:78831475-Alternative-T;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Reference A gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc AACCACGTCGGT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAaaccacgtcggtAGATCGAGACCCGACGC chr5:78831475-Reference-A;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative T gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CGCCTGATGTGA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAcgcctgatgtgaAGATCGAGACCCGACGC chr5:78831475-Alternative-T;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Alternative T gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc CAGTATCGCCAA CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaTgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAcagtatcgccaaAGATCGAGACCCGACGC chr5:78831475-Alternative-T;Patient-90 chr5:78831475-AG DeNovo Patient-90 intergenic NA 0.000513 0.34 7.74 0.89 HOMER1 21815 Reference A gaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaatacc GCAATCGACTAT CGACGCGGTCTCTCTCTgaccagcctgggcaacatagcaagactcctgtctctacaaaaaaaaaaaaAgtatgagagaaatttcaaccaattatgggatatttatgctcgaaataccAGAGGGAGACGGACGTCTCAATAAgcaatcgactatAGATCGAGACCCGACGC chr5:78831475-Reference-A;Patient-90 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Reference G ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GCCGACGTGTTA CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAgccgacgtgttaAGATCGAGACCCGACGC chr5:80438549-Reference-G;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative C ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CGCTATTGTCTA CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcgctattgtctaAGATCGAGACCCGACGC chr5:80438549-Alternative-C;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative C ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CGATGTCGAAGG CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcgatgtcgaaggAGATCGAGACCCGACGC chr5:80438549-Alternative-C;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative C ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GGAATATGGACG CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAggaatatggacgAGATCGAGACCCGACGC chr5:80438549-Alternative-C;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative A ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GGACGTTCTGAC CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAggacgttctgacAGATCGAGACCCGACGC chr5:80438549-Alternative-A;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Reference G ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CAACAATATCGG CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcaacaatatcggAGATCGAGACCCGACGC chr5:80438549-Reference-G;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Reference G ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GATCACGTACAT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAgatcacgtacatAGATCGAGACCCGACGC chr5:80438549-Reference-G;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Reference G ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa AGTAGCCAAGTT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAagtagccaagttAGATCGAGACCCGACGC chr5:80438549-Reference-G;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Reference G ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CGTACTAACGAG CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaGtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcgtactaacgagAGATCGAGACCCGACGC chr5:80438549-Reference-G;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative C ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CTTAGGAGTATC CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAActtaggagtatcAGATCGAGACCCGACGC chr5:80438549-Alternative-C;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative A ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CAGATAGTTGCT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcagatagttgctAGATCGAGACCCGACGC chr5:80438549-Alternative-A;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Variant T ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa ACTTCAGTAAGG CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAacttcagtaaggAGATCGAGACCCGACGC chr5:80438549-Variant-T;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Variant T ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CGTTCTCGACGT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcgttctcgacgtAGATCGAGACCCGACGC chr5:80438549-Variant-T;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Variant T ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa ACGGCTCTTCGT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAacggctcttcgtAGATCGAGACCCGACGC chr5:80438549-Variant-T;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Variant T ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa AACCACACCTAT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAaaccacacctatAGATCGAGACCCGACGC chr5:80438549-Variant-T;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Variant T ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CACAGCGTACTT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaTtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAcacagcgtacttAGATCGAGACCCGACGC chr5:80438549-Variant-T;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative A ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GCCAAGCAGACT CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAgccaagcagactAGATCGAGACCCGACGC chr5:80438549-Alternative-A;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative A ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa GTCGCAAGAATA CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAgtcgcaagaataAGATCGAGACCCGACGC chr5:80438549-Alternative-A;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative A ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa CTCTAACAGCAA CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaAtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAActctaacagcaaAGATCGAGACCCGACGC chr5:80438549-Alternative-A;Patient-55 chr5:80438549-GT Inherited Patient-55 intronic RASGRF2 NA 4.95e-05 -0.02 2.32 0.61 CKMT2 90589 Alternative C ctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaa AAGGTAATCGAC CGACGCGGTCTCTCTCTctaggacaggctatgtgctttgcagcacccagtgtgaaatgaaaatgcaaCtgtccctgttgaaaaaattattaagaatttcaagaattcttattaagaaAGAGGGAGACGGACGTCTCAATAAaaggtaatcgacAGATCGAGACCCGACGC chr5:80438549-Alternative-C;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative T tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc CGGTGGAATCGA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAcggtggaatcgaAGATCGAGACCCGACGC chr5:80512652-Alternative-T;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative T tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc AGCGTAACGTCC CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAagcgtaacgtccAGATCGAGACCCGACGC chr5:80512652-Alternative-T;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative G tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GATGAACGCTGT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgatgaacgctgtAGATCGAGACCCGACGC chr5:80512652-Alternative-G;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative T tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc CGATAGCTACGT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAcgatagctacgtAGATCGAGACCCGACGC chr5:80512652-Alternative-T;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Reference A tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GCCGTGTGAATT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgccgtgtgaattAGATCGAGACCCGACGC chr5:80512652-Reference-A;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative G tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc ACAAGCGTAGAA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAacaagcgtagaaAGATCGAGACCCGACGC chr5:80512652-Alternative-G;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative T tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GCATCTAGGATT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgcatctaggattAGATCGAGACCCGACGC chr5:80512652-Alternative-T;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative G tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GGCGACTGTCAT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAggcgactgtcatAGATCGAGACCCGACGC chr5:80512652-Alternative-G;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative G tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc ACAGCGACGAAC CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAacagcgacgaacAGATCGAGACCCGACGC chr5:80512652-Alternative-G;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative G tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc CGGTGTTCGTCA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacGaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAcggtgttcgtcaAGATCGAGACCCGACGC chr5:80512652-Alternative-G;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Reference A tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GTACTCGTCAAG CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgtactcgtcaagAGATCGAGACCCGACGC chr5:80512652-Reference-A;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Reference A tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GGTGTTGCGTGT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAggtgttgcgtgtAGATCGAGACCCGACGC chr5:80512652-Reference-A;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Alternative T tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc CGTCTAATAGCA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacTaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAcgtctaatagcaAGATCGAGACCCGACGC chr5:80512652-Alternative-T;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Variant C tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc AGTAAGGCTACA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAagtaaggctacaAGATCGAGACCCGACGC chr5:80512652-Variant-C;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Variant C tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GCGGTAGTAGCT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgcggtagtagctAGATCGAGACCCGACGC chr5:80512652-Variant-C;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Variant C tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc AAGGAGGTCTTA CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAaaggaggtcttaAGATCGAGACCCGACGC chr5:80512652-Variant-C;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Reference A tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc CGGAATCGCTTC CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAcggaatcgcttcAGATCGAGACCCGACGC chr5:80512652-Reference-A;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Variant C tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc ATACGCTTGCCT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAatacgcttgcctAGATCGAGACCCGACGC chr5:80512652-Variant-C;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Reference A tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GCCAATAACGGT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacAaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgccaataacggtAGATCGAGACCCGACGC chr5:80512652-Reference-A;Patient-55 chr5:80512652-AC Inherited Patient-55 intronic RASGRF2 6.4e-05 4.95e-05 0 2.6 -1.82 CKMT2 16486 Variant C tccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttc GAGTATACAGGT CGACGCGGTCTCTCTCTtccggcctctgagaagaccaagtatacccagctctctctaaaaaccaaacCaaacagtgtctcaccttagtctgagttgtgatgttaagtctacactttcAGAGGGAGACGGACGTCTCAATAAgagtatacaggtAGATCGAGACCCGACGC chr5:80512652-Variant-C;Patient-55 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative A cctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ATCGCTATCACT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAatcgctatcactAGATCGAGACCCGACGC chr5:81667749-Alternative-A;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative A cctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ACGTCAAGATGA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAacgtcaagatgaAGATCGAGACCCGACGC chr5:81667749-Alternative-A;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative C cctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CGTAGTCATCGG CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAcgtagtcatcggAGATCGAGACCCGACGC chr5:81667749-Alternative-C;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative A cctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CACTTACGTGTT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAcacttacgtgttAGATCGAGACCCGACGC chr5:81667749-Alternative-A;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative A cctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttg GTTCCGCCGTAA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAgttccgccgtaaAGATCGAGACCCGACGC chr5:81667749-Alternative-A;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative A cctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ATTCGGATGACT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaAcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAattcggatgactAGATCGAGACCCGACGC chr5:81667749-Alternative-A;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Reference G cctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttg GGAGTTCCATTA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAggagttccattaAGATCGAGACCCGACGC chr5:81667749-Reference-G;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative C cctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttg GATATTGATCGG CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAgatattgatcggAGATCGAGACCCGACGC chr5:81667749-Alternative-C;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Reference G cctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CTGAGTACGTGC CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAActgagtacgtgcAGATCGAGACCCGACGC chr5:81667749-Reference-G;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative C cctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CGACGATCTCGA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAcgacgatctcgaAGATCGAGACCCGACGC chr5:81667749-Alternative-C;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Reference G cctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CGCATAATGACA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAcgcataatgacaAGATCGAGACCCGACGC chr5:81667749-Reference-G;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Reference G cctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttg AGCGCCAAGATT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAagcgccaagattAGATCGAGACCCGACGC chr5:81667749-Reference-G;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Variant T cctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CTCGTTCGAGCT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAActcgttcgagctAGATCGAGACCCGACGC chr5:81667749-Variant-T;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative C cctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttg AGCCGGACGTAA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAagccggacgtaaAGATCGAGACCCGACGC chr5:81667749-Alternative-C;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Reference G cctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ATACGAGGTAAC CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaGcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAatacgaggtaacAGATCGAGACCCGACGC chr5:81667749-Reference-G;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Variant T cctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttg AGATCGTACATC CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAagatcgtacatcAGATCGAGACCCGACGC chr5:81667749-Variant-T;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Alternative C cctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ATCGTACGGATA CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaCcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAatcgtacggataAGATCGAGACCCGACGC chr5:81667749-Alternative-C;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Variant T cctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttg GACCTCGGTGAT CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAgacctcggtgatAGATCGAGACCCGACGC chr5:81667749-Variant-T;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Variant T cctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttg ATAATCGTGTGC CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAataatcgtgtgcAGATCGAGACCCGACGC chr5:81667749-Variant-T;Patient-37 chr5:81667749-GT DeNovo Patient-37 intergenic 0.000547 0.000513 -0.07 1.65 0 RPS23 93513 Variant T cctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttg CGAATAACGAAC CGACGCGGTCTCTCTCTcctggactctttttggttggtaaactattgattattgccacaatttcagaTcctgttattggtctattcagagattcaacttcttcctggtttagtcttgAGAGGGAGACGGACGTCTCAATAAcgaataacgaacAGATCGAGACCCGACGC chr5:81667749-Variant-T;Patient-37 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Reference C aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACGACTGTGTCG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAacgactgtgtcgAGATCGAGACCCGACGC chr5:82341691-Reference-C;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Reference C aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CTCACGTCCTTC CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAActcacgtccttcAGATCGAGACCCGACGC chr5:82341691-Reference-C;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Reference C aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACACCTCAACTT CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAacacctcaacttAGATCGAGACCCGACGC chr5:82341691-Reference-C;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Reference C aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CGAATTGACGAC CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAcgaattgacgacAGATCGAGACCCGACGC chr5:82341691-Reference-C;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Reference C aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACTCGGTATCGC CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgCcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAactcggtatcgcAGATCGAGACCCGACGC chr5:82341691-Reference-C;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Variant A aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CATTAAGCCACG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAcattaagccacgAGATCGAGACCCGACGC chr5:82341691-Variant-A;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Variant A aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ATTGCGGACGAG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAattgcggacgagAGATCGAGACCCGACGC chr5:82341691-Variant-A;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Variant A aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CTTATAGAAGCG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAActtatagaagcgAGATCGAGACCCGACGC chr5:82341691-Variant-A;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Variant A aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc AGTAGATAGTCG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAagtagatagtcgAGATCGAGACCCGACGC chr5:82341691-Variant-A;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Variant A aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CGTTAAGTAGCT CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgAcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAcgttaagtagctAGATCGAGACCCGACGC chr5:82341691-Variant-A;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative T aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc AACAAGGTGCGC CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAaacaaggtgcgcAGATCGAGACCCGACGC chr5:82341691-Alternative-T;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative T aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc GGCACGATAATA CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAggcacgataataAGATCGAGACCCGACGC chr5:82341691-Alternative-T;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative T aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACTCGTGTGCAG CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAactcgtgtgcagAGATCGAGACCCGACGC chr5:82341691-Alternative-T;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative T aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc AGCGCGCTGTAA CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAagcgcgctgtaaAGATCGAGACCCGACGC chr5:82341691-Alternative-T;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative T aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACTCGGTGGTGT CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgTcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAactcggtggtgtAGATCGAGACCCGACGC chr5:82341691-Alternative-T;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative G aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc GCGATTCATCTT CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAgcgattcatcttAGATCGAGACCCGACGC chr5:82341691-Alternative-G;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative G aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CAGCGACCAGAA CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAcagcgaccagaaAGATCGAGACCCGACGC chr5:82341691-Alternative-G;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative G aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc CGCTACTGGCAA CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAcgctactggcaaAGATCGAGACCCGACGC chr5:82341691-Alternative-G;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative G aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc ACGTAGGTTATC CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAacgtaggttatcAGATCGAGACCCGACGC chr5:82341691-Alternative-G;Patient-30 chr5:82341691-CA Inherited Patient-30 intergenic 3.2e-05 0.000513 NA NA NA XRCC4 31625 Alternative G aaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatc AACGAGAACGGT CGACGCGGTCTCTCTCTaaatgccagattctccaggattgtatgtgaagtgaatgtagatatgtttgGcattattgtcctaaaccagaaaatcggggaaaagtataaagttggtatcAGAGGGAGACGGACGTCTCAATAAaacgagaacggtAGATCGAGACCCGACGC chr5:82341691-Alternative-G;Patient-30 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Reference C accactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcac CTGCATCGTCGA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAActgcatcgtcgaAGATCGAGACCCGACGC chr5:85946309-Reference-C;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative A accactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcac AAGGTTGAGTAC CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAaaggttgagtacAGATCGAGACCCGACGC chr5:85946309-Alternative-A;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative A accactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcac CGACTGACATGA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAcgactgacatgaAGATCGAGACCCGACGC chr5:85946309-Alternative-A;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Reference C accactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcac CTCATACGTGTT CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAActcatacgtgttAGATCGAGACCCGACGC chr5:85946309-Reference-C;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Reference C accactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcac CGTACATACGAT CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAcgtacatacgatAGATCGAGACCCGACGC chr5:85946309-Reference-C;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative A accactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcac CGAAGACGACTA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAcgaagacgactaAGATCGAGACCCGACGC chr5:85946309-Alternative-A;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Reference C accactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcac GATTAACCTACC CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgattaacctaccAGATCGAGACCCGACGC chr5:85946309-Reference-C;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative G accactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcac GGCTCTGTGCTT CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAggctctgtgcttAGATCGAGACCCGACGC chr5:85946309-Alternative-G;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative A accactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcac GCCGCATACTTC CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgccgcatacttcAGATCGAGACCCGACGC chr5:85946309-Alternative-A;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative A accactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcac CTATGAGCATGT CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaAccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAActatgagcatgtAGATCGAGACCCGACGC chr5:85946309-Alternative-A;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Reference C accactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcac CAACGATAGCTA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaCccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAcaacgatagctaAGATCGAGACCCGACGC chr5:85946309-Reference-C;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Variant T accactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcac CACGCTACAACG CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAcacgctacaacgAGATCGAGACCCGACGC chr5:85946309-Variant-T;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Variant T accactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcac GTACAAGCATCA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgtacaagcatcaAGATCGAGACCCGACGC chr5:85946309-Variant-T;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Variant T accactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcac AGTACGACGGAC CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAagtacgacggacAGATCGAGACCCGACGC chr5:85946309-Variant-T;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Variant T accactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcac AGCGGCAGATAC CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAagcggcagatacAGATCGAGACCCGACGC chr5:85946309-Variant-T;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative G accactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcac CTATTCCTGTGG CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAActattcctgtggAGATCGAGACCCGACGC chr5:85946309-Alternative-G;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative G accactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcac GTTGGACATTCA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgttggacattcaAGATCGAGACCCGACGC chr5:85946309-Alternative-G;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative G accactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcac GTCGGAGTAGGT CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgtcggagtaggtAGATCGAGACCCGACGC chr5:85946309-Alternative-G;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Variant T accactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcac GTGAACCGACGA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaTccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgtgaaccgacgaAGATCGAGACCCGACGC chr5:85946309-Variant-T;Patient-24 chr5:85946309-CT Inherited Patient-24 intergenic 0.000382 0.000513 -0.04 2 0.85 COX7C 32524 Alternative G accactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcac GCCGACGACTTA CGACGCGGTCTCTCTCTaccactactattaataacccatacatacaaacataaatcaagaaccgttaGccatctaacattgttatgttatgtatctctatttacagaatgggttcacAGAGGGAGACGGACGTCTCAATAAgccgacgacttaAGATCGAGACCCGACGC chr5:85946309-Alternative-G;Patient-24 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative G gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CGGTATCGGAAC CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAcggtatcggaacAGATCGAGACCCGACGC chr5:86609189-Alternative-G;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative G gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat ACGCGCCTAGAT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAacgcgcctagatAGATCGAGACCCGACGC chr5:86609189-Alternative-G;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative G gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GGTGTCGTAGCT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAggtgtcgtagctAGATCGAGACCCGACGC chr5:86609189-Alternative-G;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative T gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GCGGTAGCAGTT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgcggtagcagttAGATCGAGACCCGACGC chr5:86609189-Alternative-T;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative G gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GTCGGATAATGA CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgtcggataatgaAGATCGAGACCCGACGC chr5:86609189-Alternative-G;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative G gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GGTCATACAGTT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagGcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAggtcatacagttAGATCGAGACCCGACGC chr5:86609189-Alternative-G;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative T gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat ACGCATTAGTAC CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAacgcattagtacAGATCGAGACCCGACGC chr5:86609189-Alternative-T;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative T gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GCCGATCGAATA CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgccgatcgaataAGATCGAGACCCGACGC chr5:86609189-Alternative-T;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative T gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat ATCACCAAGGCG CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAatcaccaaggcgAGATCGAGACCCGACGC chr5:86609189-Alternative-T;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Alternative T gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CTGTCTTAGGAT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagTcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAActgtcttaggatAGATCGAGACCCGACGC chr5:86609189-Alternative-T;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Reference C gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CGGTGCGATTCT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAcggtgcgattctAGATCGAGACCCGACGC chr5:86609189-Reference-C;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Reference C gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GAAGTTGACGAT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgaagttgacgatAGATCGAGACCCGACGC chr5:86609189-Reference-C;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Variant A gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat AAGCGGCAACGT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAaagcggcaacgtAGATCGAGACCCGACGC chr5:86609189-Variant-A;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Variant A gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GGTGATTCTCGG CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAggtgattctcggAGATCGAGACCCGACGC chr5:86609189-Variant-A;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Reference C gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CGTCGAACTACG CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAcgtcgaactacgAGATCGAGACCCGACGC chr5:86609189-Reference-C;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Reference C gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CGATCGTCCGTT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAcgatcgtccgttAGATCGAGACCCGACGC chr5:86609189-Reference-C;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Variant A gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GTTCTGTCGTCG CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgttctgtcgtcgAGATCGAGACCCGACGC chr5:86609189-Variant-A;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Reference C gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GCAACTAGTAGA CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagCcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgcaactagtagaAGATCGAGACCCGACGC chr5:86609189-Reference-C;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Variant A gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat CTGTCGTCGCAT CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAActgtcgtcgcatAGATCGAGACCCGACGC chr5:86609189-Variant-A;Patient-87 chr5:86609189-CA Inherited Patient-87 intronic RASA1 6.4e-05 4.95e-05 -0.17 0.86 0.13 RASA1 45118 Variant A gtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaat GCGAACGATCCA CGACGCGGTCTCTCTCTgtgatagataactaccacagggtaggaggacaatgcaaatagtttggaagAcgggctttaccaagaaaaagaggaaggagaggtgagaaatagcttgaatAGAGGGAGACGGACGTCTCAATAAgcgaacgatccaAGATCGAGACCCGACGC chr5:86609189-Variant-A;Patient-87 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Reference G ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa CTTAACGCTAAC CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAActtaacgctaacAGATCGAGACCCGACGC chr5:86619091-Reference-G;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Reference G ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa AAGCAAGAGTCT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAaagcaagagtctAGATCGAGACCCGACGC chr5:86619091-Reference-G;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Variant A ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa AGTTCACGGCGT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAagttcacggcgtAGATCGAGACCCGACGC chr5:86619091-Variant-A;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Variant A ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa AGTTAACCGCTT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAagttaaccgcttAGATCGAGACCCGACGC chr5:86619091-Variant-A;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Variant A ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa ACGCAAGTGGCA CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAacgcaagtggcaAGATCGAGACCCGACGC chr5:86619091-Variant-A;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Variant A ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa AATCGAACACAC CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAaatcgaacacacAGATCGAGACCCGACGC chr5:86619091-Variant-A;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative C ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa CGGTCTGCTTCT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAcggtctgcttctAGATCGAGACCCGACGC chr5:86619091-Alternative-C;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative C ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GCAAGAGTCTGG CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAgcaagagtctggAGATCGAGACCCGACGC chr5:86619091-Alternative-C;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative T ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa CACGGTAGATGC CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAcacggtagatgcAGATCGAGACCCGACGC chr5:86619091-Alternative-T;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative C ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa ACTTAGGCCTTA CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAacttaggccttaAGATCGAGACCCGACGC chr5:86619091-Alternative-C;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Variant A ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa AAGATGGTTCGA CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaAaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAaagatggttcgaAGATCGAGACCCGACGC chr5:86619091-Variant-A;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative C ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GTCCGGTTATGG CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAgtccggttatggAGATCGAGACCCGACGC chr5:86619091-Alternative-C;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Reference G ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GAGCATACGAAT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAgagcatacgaatAGATCGAGACCCGACGC chr5:86619091-Reference-G;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative T ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GGCCATCGTAAG CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAggccatcgtaagAGATCGAGACCCGACGC chr5:86619091-Alternative-T;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative C ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GGCTTGACACGT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaCaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAggcttgacacgtAGATCGAGACCCGACGC chr5:86619091-Alternative-C;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Reference G ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa ATCTCATGTTCG CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAatctcatgttcgAGATCGAGACCCGACGC chr5:86619091-Reference-G;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative T ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa GTACGAACAGAT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAgtacgaacagatAGATCGAGACCCGACGC chr5:86619091-Alternative-T;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative T ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa ATCTTACGGCAA CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAatcttacggcaaAGATCGAGACCCGACGC chr5:86619091-Alternative-T;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Reference G ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa CGGATTCCGACT CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaGaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAAcggattccgactAGATCGAGACCCGACGC chr5:86619091-Reference-G;Patient-49 chr5:86619091-GA DeNovo Patient-49 intronic RASA1 NA 4.95e-05 -0.21 0.65 -0.33 RASA1 55020 Alternative T ttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaa CTACGGCTGTGA CGACGCGGTCTCTCTCTttttttaaaaaagttaaataggagaaacactttgagaaagcatagagggaTaaaactaatgccttaaaacattgcctaacgcataataggagcttaaaaaAGAGGGAGACGGACGTCTCAATAActacggctgtgaAGATCGAGACCCGACGC chr5:86619091-Alternative-T;Patient-49 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Variant A atgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc CAACAAGCAACA CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAcaacaagcaacaAGATCGAGACCCGACGC chr5:88276224-Variant-A;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Variant A atgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc ATTACGTTGCCT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAattacgttgcctAGATCGAGACCCGACGC chr5:88276224-Variant-A;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Variant A atgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGGCTCCACAAG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAaggctccacaagAGATCGAGACCCGACGC chr5:88276224-Variant-A;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Reference T atgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc CTTACGTTGCTA CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAActtacgttgctaAGATCGAGACCCGACGC chr5:88276224-Reference-T;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Variant A atgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GAATGTATCGGT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAgaatgtatcggtAGATCGAGACCCGACGC chr5:88276224-Variant-A;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative C atgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGGACCTTACGC CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAaggaccttacgcAGATCGAGACCCGACGC chr5:88276224-Alternative-C;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Reference T atgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc CAATACGGAACA CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAcaatacggaacaAGATCGAGACCCGACGC chr5:88276224-Reference-T;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative C atgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGTCGTATGCAT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAagtcgtatgcatAGATCGAGACCCGACGC chr5:88276224-Alternative-C;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative C atgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GGCTCACAATAT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAggctcacaatatAGATCGAGACCCGACGC chr5:88276224-Alternative-C;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative C atgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AATATGGTGACG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAaatatggtgacgAGATCGAGACCCGACGC chr5:88276224-Alternative-C;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Variant A atgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc CTTGAGCCGCAT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttAttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAActtgagccgcatAGATCGAGACCCGACGC chr5:88276224-Variant-A;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative C atgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GTATCGCTAACT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttCttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAgtatcgctaactAGATCGAGACCCGACGC chr5:88276224-Alternative-C;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Reference T atgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGATAACGTGCA CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAagataacgtgcaAGATCGAGACCCGACGC chr5:88276224-Reference-T;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative G atgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GTCGATAGTAGA CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAgtcgatagtagaAGATCGAGACCCGACGC chr5:88276224-Alternative-G;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative G atgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GCGTTGATAGCG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAgcgttgatagcgAGATCGAGACCCGACGC chr5:88276224-Alternative-G;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative G atgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc GGACCGATAACG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAggaccgataacgAGATCGAGACCCGACGC chr5:88276224-Alternative-G;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Reference T atgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGTTGTGTAAGG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAagttgtgtaaggAGATCGAGACCCGACGC chr5:88276224-Reference-T;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative G atgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc AGCTGGACGCTT CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAagctggacgcttAGATCGAGACCCGACGC chr5:88276224-Alternative-G;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Alternative G atgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc ACGTAGTCGGAG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttGttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAacgtagtcggagAGATCGAGACCCGACGC chr5:88276224-Alternative-G;Patient-26 chr5:88276224-TA DeNovo Patient-26 intergenic NA 0.000513 0.23 6.24 2.49 MEF2C 76301 Reference T atgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatc CGCAGAAGATGG CGACGCGGTCTCTCTCTatgaattagaattttatagatttccaacataattaaattcatggatacttTttttctctgagagtcagctgtgaagttttgggtttgaaatagccttatcAGAGGGAGACGGACGTCTCAATAAcgcagaagatggAGATCGAGACCCGACGC chr5:88276224-Reference-T;Patient-26 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative T gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CGCGTATAGTAA CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAcgcgtatagtaaAGATCGAGACCCGACGC chr5:89841633-Alternative-T;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Reference A gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GACAACTCATGG CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgacaactcatggAGATCGAGACCCGACGC chr5:89841633-Reference-A;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Reference A gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CAACGTGTACGT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAcaacgtgtacgtAGATCGAGACCCGACGC chr5:89841633-Reference-A;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative T gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CTGGTCGTGATT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAActggtcgtgattAGATCGAGACCCGACGC chr5:89841633-Alternative-T;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Reference A gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatat AAGGTTCGTCAC CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAaaggttcgtcacAGATCGAGACCCGACGC chr5:89841633-Reference-A;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative C gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CGTCACGTAGGT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAcgtcacgtaggtAGATCGAGACCCGACGC chr5:89841633-Alternative-C;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Reference A gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CTAGGCATGCCT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAActaggcatgcctAGATCGAGACCCGACGC chr5:89841633-Reference-A;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative T gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CGGATCGTCTGT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAcggatcgtctgtAGATCGAGACCCGACGC chr5:89841633-Alternative-T;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative T gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatat ATCACGCCGCTT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAatcacgccgcttAGATCGAGACCCGACGC chr5:89841633-Alternative-T;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Reference A gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GAGTATTCGACT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttAaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgagtattcgactAGATCGAGACCCGACGC chr5:89841633-Reference-A;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative C gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatat CAGATTACGTCG CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAcagattacgtcgAGATCGAGACCCGACGC chr5:89841633-Alternative-C;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative C gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GCAGGTTCACCA CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgcaggttcaccaAGATCGAGACCCGACGC chr5:89841633-Alternative-C;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative C gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GGATCATTGCCG CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAggatcattgccgAGATCGAGACCCGACGC chr5:89841633-Alternative-C;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative C gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GAGCTAGATCGC CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttCaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgagctagatcgcAGATCGAGACCCGACGC chr5:89841633-Alternative-C;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Alternative T gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatat AGAGCAGCATAT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttTaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAagagcagcatatAGATCGAGACCCGACGC chr5:89841633-Alternative-T;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Variant G gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GTTCACTTACGC CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgttcacttacgcAGATCGAGACCCGACGC chr5:89841633-Variant-G;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Variant G gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatat AGGACGAGCCTA CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAaggacgagcctaAGATCGAGACCCGACGC chr5:89841633-Variant-G;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Variant G gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatat GACGCAGTTAGG CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAgacgcagttaggAGATCGAGACCCGACGC chr5:89841633-Variant-G;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Variant G gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatat ACTGAAGTCAAG CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAactgaagtcaagAGATCGAGACCCGACGC chr5:89841633-Variant-G;Patient-86 chr5:89841633-AG DeNovo Patient-86 intergenic 3.2e-05 0.000513 -0.23 0.6 -6.42 POLR3G 70951 Variant G gaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatat AGCGTTCGGTGT CGACGCGGTCTCTCTCTgaagagcatcctccttttaccatcatcacaaatagataaacgtttctcttGaagtgccccatgacagctgagaatagactcagactgagtaatgagatatAGAGGGAGACGGACGTCTCAATAAagcgttcggtgtAGATCGAGACCCGACGC chr5:89841633-Variant-G;Patient-86 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative A ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgc ATACGAACACCT CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAatacgaacacctAGATCGAGACCCGACGC chr5:90643954-Alternative-A;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Reference T ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgc ACGATAGCATTC CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAacgatagcattcAGATCGAGACCCGACGC chr5:90643954-Reference-T;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Reference T ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgc GGACCTTACAAT CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAggaccttacaatAGATCGAGACCCGACGC chr5:90643954-Reference-T;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative A ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgc ATCATACACGGC CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAatcatacacggcAGATCGAGACCCGACGC chr5:90643954-Alternative-A;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Reference T ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgc GCGATTATTCAC CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAgcgattattcacAGATCGAGACCCGACGC chr5:90643954-Reference-T;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative G ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CGGAGGAATTCG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAcggaggaattcgAGATCGAGACCCGACGC chr5:90643954-Alternative-G;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative A ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgc AATAACGAACCG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAaataacgaaccgAGATCGAGACCCGACGC chr5:90643954-Alternative-A;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative G ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgc AACGTATACAGG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAaacgtatacaggAGATCGAGACCCGACGC chr5:90643954-Alternative-G;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Reference T ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgc ATACTTACGCGT CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAatacttacgcgtAGATCGAGACCCGACGC chr5:90643954-Reference-T;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative G ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CGTAATACGAAG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAcgtaatacgaagAGATCGAGACCCGACGC chr5:90643954-Alternative-G;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative A ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgc ACTAATCGGTTC CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAactaatcggttcAGATCGAGACCCGACGC chr5:90643954-Alternative-A;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Variant C ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CTTATAACGGAG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAActtataacggagAGATCGAGACCCGACGC chr5:90643954-Variant-C;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative A ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CTCGGTTGTTCG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaAtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAActcggttgttcgAGATCGAGACCCGACGC chr5:90643954-Alternative-A;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Variant C ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CTCGGAATTAAG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAActcggaattaagAGATCGAGACCCGACGC chr5:90643954-Variant-C;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Reference T ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CGGTCGCATTCA CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaTtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAcggtcgcattcaAGATCGAGACCCGACGC chr5:90643954-Reference-T;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative G ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgc GGCGGTATCTGT CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAggcggtatctgtAGATCGAGACCCGACGC chr5:90643954-Alternative-G;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Variant C ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgc CTTGTACTTGCA CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAActtgtacttgcaAGATCGAGACCCGACGC chr5:90643954-Variant-C;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Alternative G ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgc GATTAGATACGG CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaGtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAgattagatacggAGATCGAGACCCGACGC chr5:90643954-Alternative-G;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Variant C ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgc GTTACGTCGATA CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAgttacgtcgataAGATCGAGACCCGACGC chr5:90643954-Variant-C;Patient-69 chr5:90643954-TC DeNovo Patient-69 intergenic 3.2e-05 0.000512821 0.21 5.93 0 ARRDC3 35194 Variant C ggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgc AGTGACCGGTAC CGACGCGGTCTCTCTCTggaggggctgccgtgaagacctctgacatgccttggagatgttttccccaCtgtcttggggattaatattcagctccttgttacttatgcacatttctgcAGAGGGAGACGGACGTCTCAATAAagtgaccggtacAGATCGAGACCCGACGC chr5:90643954-Variant-C;Patient-69 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Reference G ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AACGAGGCATTA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAaacgaggcattaAGATCGAGACCCGACGC chr5:94028834-Reference-G;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative C ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AGAGCACTGTTC CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAagagcactgttcAGATCGAGACCCGACGC chr5:94028834-Alternative-C;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative T ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AGTCTACGATAC CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAagtctacgatacAGATCGAGACCCGACGC chr5:94028834-Alternative-T;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative T ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CAAGCCGTCCTA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAcaagccgtcctaAGATCGAGACCCGACGC chr5:94028834-Alternative-T;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Reference G ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CGCGATGAAGCT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAcgcgatgaagctAGATCGAGACCCGACGC chr5:94028834-Reference-G;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative T ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt ATTCGCGATTCA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAattcgcgattcaAGATCGAGACCCGACGC chr5:94028834-Alternative-T;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative C ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AAGGTTGTACCT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAaaggttgtacctAGATCGAGACCCGACGC chr5:94028834-Alternative-C;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Variant A ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CATCGGAACTAA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAcatcggaactaaAGATCGAGACCCGACGC chr5:94028834-Variant-A;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Variant A ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt GTCTAGAACGAA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAgtctagaacgaaAGATCGAGACCCGACGC chr5:94028834-Variant-A;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative T ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CTCGTAGACAAG CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAActcgtagacaagAGATCGAGACCCGACGC chr5:94028834-Alternative-T;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative C ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt GCAGCAACCAGA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAgcagcaaccagaAGATCGAGACCCGACGC chr5:94028834-Alternative-C;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Variant A ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CGTTGCTACGCT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAcgttgctacgctAGATCGAGACCCGACGC chr5:94028834-Variant-A;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative T ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt ACTCGTATCACT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcTtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAactcgtatcactAGATCGAGACCCGACGC chr5:94028834-Alternative-T;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Variant A ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt ACAAGAGAGTCT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAacaagagagtctAGATCGAGACCCGACGC chr5:94028834-Variant-A;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative C ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AGCTGGTATCTA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAagctggtatctaAGATCGAGACCCGACGC chr5:94028834-Alternative-C;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Variant A ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt GTAGTAGGTTCT CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcAtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAgtagtaggttctAGATCGAGACCCGACGC chr5:94028834-Variant-A;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Alternative C ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt AGGTAAGGTAAG CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcCtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAaggtaaggtaagAGATCGAGACCCGACGC chr5:94028834-Alternative-C;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Reference G ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt ACGCTTACGGCA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAacgcttacggcaAGATCGAGACCCGACGC chr5:94028834-Reference-G;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Reference G ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt CTTACTCGCTGA CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAActtactcgctgaAGATCGAGACCCGACGC chr5:94028834-Reference-G;Patient-12 chr5:94028834-GA DeNovo Patient-12 intronic SLF1 9.6e-05 4.95e-05 NA NA NA SLF1 74442 Reference G ttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgt ATTACGTCTTCG CGACGCGGTCTCTCTCTttatcttatcctgtaattaaaacatttgattgtgcataaagacaaaaagcGtattttcttaagatgtctttttagtatatatgcatctaaggaaggctgtAGAGGGAGACGGACGTCTCAATAAattacgtcttcgAGATCGAGACCCGACGC chr5:94028834-Reference-G;Patient-12 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative C acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac GGAGATGCTCGA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAggagatgctcgaAGATCGAGACCCGACGC chr5:94949901-Alternative-C;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative C acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac GATTGGCTGCCA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAgattggctgccaAGATCGAGACCCGACGC chr5:94949901-Alternative-C;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative C acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CGTCGTTCATTA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcgtcgttcattaAGATCGAGACCCGACGC chr5:94949901-Alternative-C;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Reference A acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CGAACGTGGTAT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcgaacgtggtatAGATCGAGACCCGACGC chr5:94949901-Reference-A;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Reference A acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac ATCGTAACACGA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAatcgtaacacgaAGATCGAGACCCGACGC chr5:94949901-Reference-A;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative C acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CATGTCATCGTT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcatgtcatcgttAGATCGAGACCCGACGC chr5:94949901-Alternative-C;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative C acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CAGTCTTGTCTA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagCtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcagtcttgtctaAGATCGAGACCCGACGC chr5:94949901-Alternative-C;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Variant G acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac GATTGGTGCGTC CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAgattggtgcgtcAGATCGAGACCCGACGC chr5:94949901-Variant-G;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Variant G acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac ACAGCATGTTGT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAacagcatgttgtAGATCGAGACCCGACGC chr5:94949901-Variant-G;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative T acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac AGATTCACGCCT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAagattcacgcctAGATCGAGACCCGACGC chr5:94949901-Alternative-T;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative T acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CGACTCGGTCAA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcgactcggtcaaAGATCGAGACCCGACGC chr5:94949901-Alternative-T;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Variant G acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac GCGACTTGCCTT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAgcgacttgccttAGATCGAGACCCGACGC chr5:94949901-Variant-G;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Reference A acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac GCACGGACTTCT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAgcacggacttctAGATCGAGACCCGACGC chr5:94949901-Reference-A;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Variant G acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CAGAGCGTATAA CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcagagcgtataaAGATCGAGACCCGACGC chr5:94949901-Variant-G;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Reference A acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac AGCGGCCATAAC CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAagcggccataacAGATCGAGACCCGACGC chr5:94949901-Reference-A;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative T acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac AAGTTCTAACCG CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAaagttctaaccgAGATCGAGACCCGACGC chr5:94949901-Alternative-T;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Variant G acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CGTTCGTTGATT CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagGtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAcgttcgttgattAGATCGAGACCCGACGC chr5:94949901-Variant-G;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative T acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac ACTTCCTATGAG CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAacttcctatgagAGATCGAGACCCGACGC chr5:94949901-Alternative-T;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Reference A acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac CTATGGTCGGAG CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagAtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAActatggtcggagAGATCGAGACCCGACGC chr5:94949901-Reference-A;Patient-7 chr5:94949901-AG DeNovo Patient-7 intergenic NA 0.000513 0.54 9.71 0.68 TTC37 59191 Alternative T acagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaac ACCTGAGATAAG CGACGCGGTCTCTCTCTacagaaggagaatagaaagagataaaaggtcggaagaaataattgaaaagTtaattgctgagaattttccaaaattaataaaagacaacaaatcaccaacAGAGGGAGACGGACGTCTCAATAAacctgagataagAGATCGAGACCCGACGC chr5:94949901-Alternative-T;Patient-7 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative T tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CTTGCCTTGTTA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAActtgccttgttaAGATCGAGACCCGACGC chr5:95678783-Alternative-T;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative T tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacata GGACGAACGATA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAggacgaacgataAGATCGAGACCCGACGC chr5:95678783-Alternative-T;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative T tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CTCGTTCGTGGT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAActcgttcgtggtAGATCGAGACCCGACGC chr5:95678783-Alternative-T;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative T tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacata ATCAATCGTGCT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAatcaatcgtgctAGATCGAGACCCGACGC chr5:95678783-Alternative-T;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative T tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacata GTGTCGGAGCTT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctTttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAgtgtcggagcttAGATCGAGACCCGACGC chr5:95678783-Alternative-T;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative C tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CACATCAAGTGT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAcacatcaagtgtAGATCGAGACCCGACGC chr5:95678783-Alternative-C;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Variant G tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacata AAGGCGGCAGTT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAaaggcggcagttAGATCGAGACCCGACGC chr5:95678783-Variant-G;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Variant G tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacata ACTCCAACTATC CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAactccaactatcAGATCGAGACCCGACGC chr5:95678783-Variant-G;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Reference A tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacata AACACCGTAAGA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAaacaccgtaagaAGATCGAGACCCGACGC chr5:95678783-Reference-A;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Reference A tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacata GCCGATGTACGA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAgccgatgtacgaAGATCGAGACCCGACGC chr5:95678783-Reference-A;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Variant G tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacata AGTCATTCGAAG CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAagtcattcgaagAGATCGAGACCCGACGC chr5:95678783-Variant-G;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Variant G tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CAGGTATGCTAT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAcaggtatgctatAGATCGAGACCCGACGC chr5:95678783-Variant-G;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Variant G tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CATAATTAGGCG CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctGttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAcataattaggcgAGATCGAGACCCGACGC chr5:95678783-Variant-G;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Reference A tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacata CAGCATGCCTGA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAcagcatgcctgaAGATCGAGACCCGACGC chr5:95678783-Reference-A;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative C tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacata ATCTGCGACGGT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAatctgcgacggtAGATCGAGACCCGACGC chr5:95678783-Alternative-C;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative C tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacata ATAAGGTGGAGA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAataaggtggagaAGATCGAGACCCGACGC chr5:95678783-Alternative-C;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Reference A tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacata GGCTACTCGGTT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAggctactcggttAGATCGAGACCCGACGC chr5:95678783-Reference-A;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Reference A tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacata AGTTCGTAGTCA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctAttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAagttcgtagtcaAGATCGAGACCCGACGC chr5:95678783-Reference-A;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative C tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacata ATATTCCGGTCA CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAatattccggtcaAGATCGAGACCCGACGC chr5:95678783-Alternative-C;Patient-88 chr5:95678783-AG DeNovo Patient-88 intergenic 0.000159 0.000513 0.48 9.18 0.35 PCSK1 90201 Alternative C tattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacata AGACGACAGGAT CGACGCGGTCTCTCTCTtattttgtttctagaagaatgatcacaatttcatatttttaaaaagagctCttaacagttttattttaaaatagcaacatgtacaatgcactcatacataAGAGGGAGACGGACGTCTCAATAAagacgacaggatAGATCGAGACCCGACGC chr5:95678783-Alternative-C;Patient-88 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative G cccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg AACGTCGAGGAC CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAaacgtcgaggacAGATCGAGACCCGACGC chr6:100101608-Alternative-G;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative G cccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg AGAGTATACGCA CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAagagtatacgcaAGATCGAGACCCGACGC chr6:100101608-Alternative-G;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative G cccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GTTAGGTCGACG CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAgttaggtcgacgAGATCGAGACCCGACGC chr6:100101608-Alternative-G;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Variant T cccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CGCTCTAGTAGA CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAcgctctagtagaAGATCGAGACCCGACGC chr6:100101608-Variant-T;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Variant T cccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GCGCAATGTTCG CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAgcgcaatgttcgAGATCGAGACCCGACGC chr6:100101608-Variant-T;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative A cccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg ATAGCAGTTCGT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAatagcagttcgtAGATCGAGACCCGACGC chr6:100101608-Alternative-A;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Variant T cccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg ACCGACCGATTA CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAaccgaccgattaAGATCGAGACCCGACGC chr6:100101608-Variant-T;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative A cccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg AGCATGGTAGCT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAagcatggtagctAGATCGAGACCCGACGC chr6:100101608-Alternative-A;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative A cccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg ACAATTGCGAAG CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAacaattgcgaagAGATCGAGACCCGACGC chr6:100101608-Alternative-A;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative A cccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CGTCTATAGGCG CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAcgtctataggcgAGATCGAGACCCGACGC chr6:100101608-Alternative-A;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Reference C cccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg ATCACCTTAGTC CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAatcaccttagtcAGATCGAGACCCGACGC chr6:100101608-Reference-C;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative A cccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CGAATAGGATAC CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccAatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAcgaataggatacAGATCGAGACCCGACGC chr6:100101608-Alternative-A;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Variant T cccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GGTACACTCGAC CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAggtacactcgacAGATCGAGACCCGACGC chr6:100101608-Variant-T;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Variant T cccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GATCCGCACGAA CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccTatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAgatccgcacgaaAGATCGAGACCCGACGC chr6:100101608-Variant-T;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Reference C cccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg ACTACGCAGTTA CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAactacgcagttaAGATCGAGACCCGACGC chr6:100101608-Reference-C;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Reference C cccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CGCATCCATACG CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAcgcatccatacgAGATCGAGACCCGACGC chr6:100101608-Reference-C;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Reference C cccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GGACTCTTACCT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAggactcttacctAGATCGAGACCCGACGC chr6:100101608-Reference-C;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Reference C cccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg GGACAGTTGCCT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccCatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAggacagttgcctAGATCGAGACCCGACGC chr6:100101608-Reference-C;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative G cccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CTGTCGAGTGGT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAActgtcgagtggtAGATCGAGACCCGACGC chr6:100101608-Alternative-G;Patient-100 chr6:100101608-CT DeNovo Patient-100 intergenic 6.5e-05 3.91e-05 -0.15 0.98 0 PRDM13 46957 Alternative G cccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatg CGGATCATGCGT CGACGCGGTCTCTCTCTcccccaccccccaccctactacaagccccagtgtgtgacattccccttccGatgtccaggtgttctctttgttcaattcccacctatgagtgagaacatgAGAGGGAGACGGACGTCTCAATAAcggatcatgcgtAGATCGAGACCCGACGC chr6:100101608-Alternative-G;Patient-100 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Variant C taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ACCAACACACGT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAaccaacacacgtAGATCGAGACCCGACGC chr6:100540640-Variant-C;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Variant C taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GGACCTATCAGT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAggacctatcagtAGATCGAGACCCGACGC chr6:100540640-Variant-C;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative A taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ACGAGGCACCTA CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAacgaggcacctaAGATCGAGACCCGACGC chr6:100540640-Alternative-A;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Variant C taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggat CGGCTGTATCCT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAcggctgtatcctAGATCGAGACCCGACGC chr6:100540640-Variant-C;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Variant C taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ACTTAACGATGC CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAacttaacgatgcAGATCGAGACCCGACGC chr6:100540640-Variant-C;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Variant C taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GAGCACACCATT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgCgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAgagcacaccattAGATCGAGACCCGACGC chr6:100540640-Variant-C;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative A taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ACGTGCATTAGT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAacgtgcattagtAGATCGAGACCCGACGC chr6:100540640-Alternative-A;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative A taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ACAATGCGTAGA CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAacaatgcgtagaAGATCGAGACCCGACGC chr6:100540640-Alternative-A;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative A taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ATACATGGCCGG CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAatacatggccggAGATCGAGACCCGACGC chr6:100540640-Alternative-A;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative A taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggat CAATGAGGCGTC CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgAgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAcaatgaggcgtcAGATCGAGACCCGACGC chr6:100540640-Alternative-A;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Reference T taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggat CGTCGTTATGAA CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAcgtcgttatgaaAGATCGAGACCCGACGC chr6:100540640-Reference-T;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Reference T taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GGTCGGTCGAAT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAggtcggtcgaatAGATCGAGACCCGACGC chr6:100540640-Reference-T;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Reference T taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GCCGCTACTATC CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAgccgctactatcAGATCGAGACCCGACGC chr6:100540640-Reference-T;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative G taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggat AGGACGATCAAG CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAaggacgatcaagAGATCGAGACCCGACGC chr6:100540640-Alternative-G;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative G taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggat ATCACCATATGG CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAatcaccatatggAGATCGAGACCCGACGC chr6:100540640-Alternative-G;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative G taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggat CTTGCGTACGGT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAActtgcgtacggtAGATCGAGACCCGACGC chr6:100540640-Alternative-G;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Reference T taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggat AGGACTTCTCTT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAaggacttctcttAGATCGAGACCCGACGC chr6:100540640-Reference-T;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Reference T taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggat CGTAGATAGACA CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgTgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAcgtagatagacaAGATCGAGACCCGACGC chr6:100540640-Reference-T;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative G taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GGTTGCGTGGTT CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAggttgcgtggttAGATCGAGACCCGACGC chr6:100540640-Alternative-G;Patient-30 chr6:100540640-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA MCHR2 98525 Alternative G taaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggat GTCGACGTCTGA CGACGCGGTCTCTCTCTtaaacaatctctactgcctttcagaagcacctcatatgtccaaggcactgGgcttcagatgctacctcactgagtccactgacaacatattaaggtggatAGAGGGAGACGGACGTCTCAATAAgtcgacgtctgaAGATCGAGACCCGACGC chr6:100540640-Alternative-G;Patient-30 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative G cctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AATAGTCGCTGT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAaatagtcgctgtAGATCGAGACCCGACGC chr6:101819389-Alternative-G;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative A cctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ACGACGATCCAT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAacgacgatccatAGATCGAGACCCGACGC chr6:101819389-Alternative-A;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative G cctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AGGTTACTATCG CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAaggttactatcgAGATCGAGACCCGACGC chr6:101819389-Alternative-G;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative G cctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AACAATAGTGCG CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAaacaatagtgcgAGATCGAGACCCGACGC chr6:101819389-Alternative-G;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative G cctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgc GTCGCACTTATT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAgtcgcacttattAGATCGAGACCCGACGC chr6:101819389-Alternative-G;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative G cctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ATACGGCGCGAA CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctGaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAatacggcgcgaaAGATCGAGACCCGACGC chr6:101819389-Alternative-G;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Variant T cctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ATCGGCTTACAT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAatcggcttacatAGATCGAGACCCGACGC chr6:101819389-Variant-T;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative A cctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ATCGATTGACAG CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAatcgattgacagAGATCGAGACCCGACGC chr6:101819389-Alternative-A;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative A cctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgc GAATCTTACGAC CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAgaatcttacgacAGATCGAGACCCGACGC chr6:101819389-Alternative-A;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative A cctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ATTGCAGTCGGC CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAattgcagtcggcAGATCGAGACCCGACGC chr6:101819389-Alternative-A;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Variant T cctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgc CTACGATCAATC CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAActacgatcaatcAGATCGAGACCCGACGC chr6:101819389-Variant-T;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Reference C cctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ATTCCTCGATAC CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAattcctcgatacAGATCGAGACCCGACGC chr6:101819389-Reference-C;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Reference C cctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgc CGTTAGCGGTAT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAcgttagcggtatAGATCGAGACCCGACGC chr6:101819389-Reference-C;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Variant T cctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgc ACCACAGCTTAT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAaccacagcttatAGATCGAGACCCGACGC chr6:101819389-Variant-T;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Variant T cctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AGTACTACACAC CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAagtactacacacAGATCGAGACCCGACGC chr6:101819389-Variant-T;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Variant T cctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AGTATTCTCGCT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctTaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAagtattctcgctAGATCGAGACCCGACGC chr6:101819389-Variant-T;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Reference C cctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgc CGACCGTTCCAT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAcgaccgttccatAGATCGAGACCCGACGC chr6:101819389-Reference-C;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Alternative A cctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgc CGTTCTTGGCGA CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctAaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAcgttcttggcgaAGATCGAGACCCGACGC chr6:101819389-Alternative-A;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Reference C cctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgc AAGTCGAGTAGT CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAaagtcgagtagtAGATCGAGACCCGACGC chr6:101819389-Reference-C;Patient-55 chr6:101819389-CT Inherited Patient-55 intergenic NA 0.000512821 0.16 5.19 -1.92 GRIK2 27471 Reference C cctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgc GGTGTACGAATA CGACGCGGTCTCTCTCTcctcaatttggtggggatttttattttaatttttttccaagatctttgctCaagacaaaccacaactccttattgacagtagtcattttcattgatctgcAGAGGGAGACGGACGTCTCAATAAggtgtacgaataAGATCGAGACCCGACGC chr6:101819389-Reference-C;Patient-55 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative C gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CGTACCACATAT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAcgtaccacatatAGATCGAGACCCGACGC chr6:101849063-Alternative-C;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative C gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CTGAGCACGAAC CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAActgagcacgaacAGATCGAGACCCGACGC chr6:101849063-Alternative-C;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative C gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ATCGTGTTCTAC CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAatcgtgttctacAGATCGAGACCCGACGC chr6:101849063-Alternative-C;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative C gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ATCCGAGTTCTA CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAatccgagttctaAGATCGAGACCCGACGC chr6:101849063-Alternative-C;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative C gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ACATCGCACCAT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaCaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAacatcgcaccatAGATCGAGACCCGACGC chr6:101849063-Alternative-C;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Reference A gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaat AGTCGTCCAACG CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAagtcgtccaacgAGATCGAGACCCGACGC chr6:101849063-Reference-A;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Reference A gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaat GACGTCAGTAGG CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAgacgtcagtaggAGATCGAGACCCGACGC chr6:101849063-Reference-A;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Reference A gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ACCATGAGTGCG CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAaccatgagtgcgAGATCGAGACCCGACGC chr6:101849063-Reference-A;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Reference A gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CTCGGTTCTGGT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAActcggttctggtAGATCGAGACCCGACGC chr6:101849063-Reference-A;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Reference A gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaat GTGATACCACGT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaAaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAgtgataccacgtAGATCGAGACCCGACGC chr6:101849063-Reference-A;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative T gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CATTCGTCACTA CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAcattcgtcactaAGATCGAGACCCGACGC chr6:101849063-Alternative-T;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative T gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ATCATGTGATCG CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAatcatgtgatcgAGATCGAGACCCGACGC chr6:101849063-Alternative-T;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative T gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ACGATATTCGAC CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAacgatattcgacAGATCGAGACCCGACGC chr6:101849063-Alternative-T;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative T gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ACTGGTAATCGT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAactggtaatcgtAGATCGAGACCCGACGC chr6:101849063-Alternative-T;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Alternative T gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaat GACGACGGAGAA CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaTaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAgacgacggagaaAGATCGAGACCCGACGC chr6:101849063-Alternative-T;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Variant G gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CACGGTTGGTCT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAcacggttggtctAGATCGAGACCCGACGC chr6:101849063-Variant-G;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Variant G gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaat GGCTCAACATAT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAggctcaacatatAGATCGAGACCCGACGC chr6:101849063-Variant-G;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Variant G gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaat CAACCTGAAGTT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAcaacctgaagttAGATCGAGACCCGACGC chr6:101849063-Variant-G;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Variant G gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaat GTAGAGCAGTCG CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAgtagagcagtcgAGATCGAGACCCGACGC chr6:101849063-Variant-G;Patient-30 chr6:101849063-AG Inherited Patient-30 intronic GRIK2 0.000669 4.19e-05 NA NA NA GRIK2 2201 Variant G gtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaat ATCGTTACTGCT CGACGCGGTCTCTCTCTgtttgtgaatgagtgtgcgttactaagtgtgtttgccgactagatggaaaGaagaagacttggagccggaaaactgccaccaatactctaaggatttaatAGAGGGAGACGGACGTCTCAATAAatcgttactgctAGATCGAGACCCGACGC chr6:101849063-Variant-G;Patient-30 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative G cccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttcttt AGGAGTATTACG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAaggagtattacgAGATCGAGACCCGACGC chr6:10499259-Alternative-G;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative G cccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttcttt AGTGTACGTACT CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAagtgtacgtactAGATCGAGACCCGACGC chr6:10499259-Alternative-G;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative G cccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttcttt GGCGATTCAAGG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAggcgattcaaggAGATCGAGACCCGACGC chr6:10499259-Alternative-G;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Variant T cccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttcttt CGCGATAATAAG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAcgcgataataagAGATCGAGACCCGACGC chr6:10499259-Variant-T;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative G cccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttcttt AGGTAGCGACCA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAaggtagcgaccaAGATCGAGACCCGACGC chr6:10499259-Alternative-G;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative G cccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttcttt GGAATGGAATGA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattGtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAggaatggaatgaAGATCGAGACCCGACGC chr6:10499259-Alternative-G;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Variant T cccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttcttt ATCGTCACTAGT CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAatcgtcactagtAGATCGAGACCCGACGC chr6:10499259-Variant-T;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Variant T cccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttcttt GCGAACCGAATC CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAgcgaaccgaatcAGATCGAGACCCGACGC chr6:10499259-Variant-T;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative A cccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttcttt GCACCTATATGA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAgcacctatatgaAGATCGAGACCCGACGC chr6:10499259-Alternative-A;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative A cccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttcttt AATGCACCTAAC CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAaatgcacctaacAGATCGAGACCCGACGC chr6:10499259-Alternative-A;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Variant T cccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttcttt CAGATCGAATGT CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAcagatcgaatgtAGATCGAGACCCGACGC chr6:10499259-Variant-T;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Variant T cccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttcttt GAGATATGGTCA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattTtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAgagatatggtcaAGATCGAGACCCGACGC chr6:10499259-Variant-T;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative A cccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttcttt GTTATGGATTCG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAgttatggattcgAGATCGAGACCCGACGC chr6:10499259-Alternative-A;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative A cccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttcttt CAGGACGCATGA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAcaggacgcatgaAGATCGAGACCCGACGC chr6:10499259-Alternative-A;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Alternative A cccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttcttt CGGCATGATAAC CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattAtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAcggcatgataacAGATCGAGACCCGACGC chr6:10499259-Alternative-A;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Reference C cccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttcttt ATCTGGTCGAAT CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAatctggtcgaatAGATCGAGACCCGACGC chr6:10499259-Reference-C;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Reference C cccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttcttt ATAGGCCTAAGG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAataggcctaaggAGATCGAGACCCGACGC chr6:10499259-Reference-C;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Reference C cccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttcttt ACGCGACAGACA CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAacgcgacagacaAGATCGAGACCCGACGC chr6:10499259-Reference-C;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Reference C cccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttcttt ACTGAACCAGCT CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAAactgaaccagctAGATCGAGACCCGACGC chr6:10499259-Reference-C;Patient-61 chr6:10499259-CT Inherited Patient-61 intergenic 9.6e-05 0.000512821 0.84 12.18 0.5 TFAP2A 79461 Reference C cccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttcttt CTTACGTACACG CGACGCGGTCTCTCTCTcccccaaagtgctgagattacaggcataagccacggcacccagccccattCtatagaatttaatggatatagattactataccaatttaattttttctttAGAGGGAGACGGACGTCTCAATAActtacgtacacgAGATCGAGACCCGACGC chr6:10499259-Reference-C;Patient-61 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Reference G ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag AACGCGACGGAA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAaacgcgacggaaAGATCGAGACCCGACGC chr6:10512421-Reference-G;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative T ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GATTGCAGAGAT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgattgcagagatAGATCGAGACCCGACGC chr6:10512421-Alternative-T;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Reference G ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GTCGGAGTTCCA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgtcggagttccaAGATCGAGACCCGACGC chr6:10512421-Reference-G;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Reference G ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GGCGTGGTTATC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAggcgtggttatcAGATCGAGACCCGACGC chr6:10512421-Reference-G;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative T ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGCTTCGCTATC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgcttcgctatcAGATCGAGACCCGACGC chr6:10512421-Alternative-T;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Variant A ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GTTGATGCTAGT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgttgatgctagtAGATCGAGACCCGACGC chr6:10512421-Variant-A;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative C ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag ACCTAAGTGTTC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAacctaagtgttcAGATCGAGACCCGACGC chr6:10512421-Alternative-C;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Variant A ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGTTGCTACGTC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgttgctacgtcAGATCGAGACCCGACGC chr6:10512421-Variant-A;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Variant A ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGTCACAGATGG CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgtcacagatggAGATCGAGACCCGACGC chr6:10512421-Variant-A;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative T ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag ATCTCAGTGTGA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAatctcagtgtgaAGATCGAGACCCGACGC chr6:10512421-Alternative-T;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative C ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGCGTATAAGAA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgcgtataagaaAGATCGAGACCCGACGC chr6:10512421-Alternative-C;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative C ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CTTACCTATCGA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAActtacctatcgaAGATCGAGACCCGACGC chr6:10512421-Alternative-C;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Variant A ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGATATCGAGAT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgatatcgagatAGATCGAGACCCGACGC chr6:10512421-Variant-A;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative T ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GCGTATTAAGGT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgcgtattaaggtAGATCGAGACCCGACGC chr6:10512421-Alternative-T;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative T ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GACGACGGACTA CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggTaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgacgacggactaAGATCGAGACCCGACGC chr6:10512421-Alternative-T;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative C ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GAGTTGTGACTT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgagttgtgacttAGATCGAGACCCGACGC chr6:10512421-Alternative-C;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Reference G ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag GTTCACGTCGTC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAgttcacgtcgtcAGATCGAGACCCGACGC chr6:10512421-Reference-G;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Alternative C ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CGTCCACTGCAT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggCaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAcgtccactgcatAGATCGAGACCCGACGC chr6:10512421-Alternative-C;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Reference G ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag CTTGCATGACGC CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggGaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAActtgcatgacgcAGATCGAGACCCGACGC chr6:10512421-Reference-G;Patient-5 chr6:10512421-GA DeNovo Patient-5 intergenic NA 0.000512821 0.72 11.22 0.15 TFAP2A 92623 Variant A ggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaag ATTGTTCCAGCT CGACGCGGTCTCTCTCTggtgaagggcttctaacccagacttggaagagcaaggaagggtcaccaggAaagcagtgtcacatagggacctgaaagatgagtaggaactcaagacaagAGAGGGAGACGGACGTCTCAATAAattgttccagctAGATCGAGACCCGACGC chr6:10512421-Variant-A;Patient-5 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative C taagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GTAACTATGTCG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgtaactatgtcgAGATCGAGACCCGACGC chr6:108234995-Alternative-C;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative T taagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GACCACAACCTT CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgaccacaaccttAGATCGAGACCCGACGC chr6:108234995-Alternative-T;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Reference A taagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GATACAACCGGC CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgatacaaccggcAGATCGAGACCCGACGC chr6:108234995-Reference-A;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative C taagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata CTACGCAAGTCG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAActacgcaagtcgAGATCGAGACCCGACGC chr6:108234995-Alternative-C;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative T taagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata CTGGCGAGTAGT CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAActggcgagtagtAGATCGAGACCCGACGC chr6:108234995-Alternative-T;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Reference A taagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GCCGATACGAAC CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgccgatacgaacAGATCGAGACCCGACGC chr6:108234995-Reference-A;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Reference A taagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata ACACAACTGCAT CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAacacaactgcatAGATCGAGACCCGACGC chr6:108234995-Reference-A;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative C taagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata ATAGGCACGCGT CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAataggcacgcgtAGATCGAGACCCGACGC chr6:108234995-Alternative-C;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Variant G taagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata ACACATCAACCG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAacacatcaaccgAGATCGAGACCCGACGC chr6:108234995-Variant-G;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Reference A taagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata AAGGCCGTCTGA CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAaaggccgtctgaAGATCGAGACCCGACGC chr6:108234995-Reference-A;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative C taagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GCGCGAGATACT CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgcgcgagatactAGATCGAGACCCGACGC chr6:108234995-Alternative-C;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Variant G taagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GGTGATCCGATA CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAggtgatccgataAGATCGAGACCCGACGC chr6:108234995-Variant-G;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Variant G taagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GTGATCAACGAC CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgtgatcaacgacAGATCGAGACCCGACGC chr6:108234995-Variant-G;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Reference A taagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GTAGTCATGACG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatAtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgtagtcatgacgAGATCGAGACCCGACGC chr6:108234995-Reference-A;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Variant G taagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GTAGGTGTTAAG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAgtaggtgttaagAGATCGAGACCCGACGC chr6:108234995-Variant-G;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative C taagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata CTCTCGTACACG CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatCtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAActctcgtacacgAGATCGAGACCCGACGC chr6:108234995-Alternative-C;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative T taagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata AACTACGACGAA CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAaactacgacgaaAGATCGAGACCCGACGC chr6:108234995-Alternative-T;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Variant G taagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata GGTACGTAAGAA CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatGtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAggtacgtaagaaAGATCGAGACCCGACGC chr6:108234995-Variant-G;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative T taagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata AGTGAGGCCTAC CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAagtgaggcctacAGATCGAGACCCGACGC chr6:108234995-Alternative-T;Patient-4 chr6:108234995-AG DeNovo Patient-4 intronic SEC63 NA 4.95e-05 -0.17 0.87 -6.55 SEC63 44486 Alternative T taagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgata AAGACGGTCATA CGACGCGGTCTCTCTCTtaagaaggcagggagaattgtaggcgatttttttccccttatactctcatTtattttccaaaatttcttcaatgagcatgtttatacattagtaatgataAGAGGGAGACGGACGTCTCAATAAaagacggtcataAGATCGAGACCCGACGC chr6:108234995-Alternative-T;Patient-4 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative C gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctca ATCGATTCGTGA CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAatcgattcgtgaAGATCGAGACCCGACGC chr6:108268728-Alternative-C;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative C gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CTACGAGATGAG CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAActacgagatgagAGATCGAGACCCGACGC chr6:108268728-Alternative-C;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Reference G gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CGTAGTGCCGTT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAcgtagtgccgttAGATCGAGACCCGACGC chr6:108268728-Reference-G;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative C gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GGATGGTTCCGT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAggatggttccgtAGATCGAGACCCGACGC chr6:108268728-Alternative-C;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Reference G gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GACCAACCGCAA CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAgaccaaccgcaaAGATCGAGACCCGACGC chr6:108268728-Reference-G;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Reference G gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CATGAGTAGGAT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAcatgagtaggatAGATCGAGACCCGACGC chr6:108268728-Reference-G;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Reference G gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctca ACTGAGCAACGG CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAactgagcaacggAGATCGAGACCCGACGC chr6:108268728-Reference-G;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative C gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctca ACACCACCGGTT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAacaccaccggttAGATCGAGACCCGACGC chr6:108268728-Alternative-C;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative T gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GCGACTGGTTGT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAgcgactggttgtAGATCGAGACCCGACGC chr6:108268728-Alternative-T;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative T gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CTATGCGTATGT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAActatgcgtatgtAGATCGAGACCCGACGC chr6:108268728-Alternative-T;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative T gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctca AACGTGCGAATA CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAaacgtgcgaataAGATCGAGACCCGACGC chr6:108268728-Alternative-T;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative C gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctca AATCGTCTGAGT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtCatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAaatcgtctgagtAGATCGAGACCCGACGC chr6:108268728-Alternative-C;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Variant A gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctca ATCCGTCGCAAT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAatccgtcgcaatAGATCGAGACCCGACGC chr6:108268728-Variant-A;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Variant A gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CAACGATCGCCT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAcaacgatcgcctAGATCGAGACCCGACGC chr6:108268728-Variant-A;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Variant A gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GGTCGGTGACAT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAggtcggtgacatAGATCGAGACCCGACGC chr6:108268728-Variant-A;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Variant A gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctca ACGCAGCTTATA CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAacgcagcttataAGATCGAGACCCGACGC chr6:108268728-Variant-A;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative T gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GTAGTCAGCCAA CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAgtagtcagccaaAGATCGAGACCCGACGC chr6:108268728-Alternative-T;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Alternative T gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GGAGATAGGCCT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtTatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAggagataggcctAGATCGAGACCCGACGC chr6:108268728-Alternative-T;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Variant A gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctca GGCGACAGTAAC CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtAatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAggcgacagtaacAGATCGAGACCCGACGC chr6:108268728-Variant-A;Patient-76 chr6:108268728-GA Inherited Patient-76 intronic SEC63 NA 4.95e-05 0.06 3.59 0.15 SEC63 10753 Reference G gaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctca CAGGTGATTCAT CGACGCGGTCTCTCTCTgaggcagaaggatggctcagcccaggagattgaggttgcagtggagcagtGatggtgccactgcactccaacctgggtaacaacatgagatccagtctcaAGAGGGAGACGGACGTCTCAATAAcaggtgattcatAGATCGAGACCCGACGC chr6:108268728-Reference-G;Patient-76 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Reference G tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa GACGCGTTCTGT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAgacgcgttctgtAGATCGAGACCCGACGC chr6:108449466-Reference-G;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Reference G tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CATCGAAGATGA CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcatcgaagatgaAGATCGAGACCCGACGC chr6:108449466-Reference-G;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Reference G tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa GATGACGAGACA CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAgatgacgagacaAGATCGAGACCCGACGC chr6:108449466-Reference-G;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Reference G tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa ACAAGCATGCGC CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAacaagcatgcgcAGATCGAGACCCGACGC chr6:108449466-Reference-G;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Variant C tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CATGACGAGTAA CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcatgacgagtaaAGATCGAGACCCGACGC chr6:108449466-Variant-C;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative T tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CAACAAGGACGT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcaacaaggacgtAGATCGAGACCCGACGC chr6:108449466-Alternative-T;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Reference G tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CAGCGATGCGAT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtGtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcagcgatgcgatAGATCGAGACCCGACGC chr6:108449466-Reference-G;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Variant C tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CTTGGACAAGCG CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAActtggacaagcgAGATCGAGACCCGACGC chr6:108449466-Variant-C;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Variant C tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa AGTCGCGCAATC CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAagtcgcgcaatcAGATCGAGACCCGACGC chr6:108449466-Variant-C;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative T tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa ACCGCAGATTAT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAaccgcagattatAGATCGAGACCCGACGC chr6:108449466-Alternative-T;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative A tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CACGCACGTACT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcacgcacgtactAGATCGAGACCCGACGC chr6:108449466-Alternative-A;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative A tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CTCATTGATGCT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAActcattgatgctAGATCGAGACCCGACGC chr6:108449466-Alternative-A;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative T tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa ACTACGTGTCTT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAactacgtgtcttAGATCGAGACCCGACGC chr6:108449466-Alternative-T;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative T tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CATAGGCGATAT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAcataggcgatatAGATCGAGACCCGACGC chr6:108449466-Alternative-T;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative T tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa CTGTCGTGATAA CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtTtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAActgtcgtgataaAGATCGAGACCCGACGC chr6:108449466-Alternative-T;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative A tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa GCCAGAGGTGAT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAgccagaggtgatAGATCGAGACCCGACGC chr6:108449466-Alternative-A;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative A tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa GGATAGGAATGA CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAggataggaatgaAGATCGAGACCCGACGC chr6:108449466-Alternative-A;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Alternative A tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa ATTCGCTATGAG CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtAtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAattcgctatgagAGATCGAGACCCGACGC chr6:108449466-Alternative-A;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Variant C tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa GACCAATGCGGT CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAgaccaatgcggtAGATCGAGACCCGACGC chr6:108449466-Variant-C;Patient-32 chr6:108449466-GC DeNovo Patient-32 intergenic 0.000353 0.00016 0.02 2.99 -1.32 NR2E1 37748 Variant C tgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaa AATCTTAGGTCG CGACGCGGTCTCTCTCTtgaaggtttcatcagaaaataaaatgaatcagattacttcattccccagtCtacccattaatccaaatttgaatctagttatttaggatttaaaatagaaAGAGGGAGACGGACGTCTCAATAAaatcttaggtcgAGATCGAGACCCGACGC chr6:108449466-Variant-C;Patient-32 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Variant G taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CTTAGTGGCGGT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAActtagtggcggtAGATCGAGACCCGACGC chr6:108792284-Variant-G;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Variant G taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc ACCGTTCTTGTT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAaccgttcttgttAGATCGAGACCCGACGC chr6:108792284-Variant-G;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Variant G taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GGTTAGCGATGG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAggttagcgatggAGATCGAGACCCGACGC chr6:108792284-Variant-G;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Variant G taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GGATCGTCCAAC CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAggatcgtccaacAGATCGAGACCCGACGC chr6:108792284-Variant-G;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Reference T taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CGGCTATCCGTT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAcggctatccgttAGATCGAGACCCGACGC chr6:108792284-Reference-T;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Variant G taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GATCAACGGTGG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaGgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgatcaacggtggAGATCGAGACCCGACGC chr6:108792284-Variant-G;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative C taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GTCGAATCGGAG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgtcgaatcggagAGATCGAGACCCGACGC chr6:108792284-Alternative-C;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Reference T taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CACATCGTGTGG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAcacatcgtgtggAGATCGAGACCCGACGC chr6:108792284-Reference-T;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative C taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CACGAATTCGGT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAcacgaattcggtAGATCGAGACCCGACGC chr6:108792284-Alternative-C;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Reference T taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc AACTCGTAGCTA CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAaactcgtagctaAGATCGAGACCCGACGC chr6:108792284-Reference-T;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Reference T taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GTTGAGTCCATA CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgttgagtccataAGATCGAGACCCGACGC chr6:108792284-Reference-T;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative C taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc ATTCCGACGTGG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAattccgacgtggAGATCGAGACCCGACGC chr6:108792284-Alternative-C;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative C taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GACCAACTAACG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgaccaactaacgAGATCGAGACCCGACGC chr6:108792284-Alternative-C;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative A taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GATTGCAGCTAT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgattgcagctatAGATCGAGACCCGACGC chr6:108792284-Alternative-A;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative C taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CAGTCGTAGCGT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaCgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAcagtcgtagcgtAGATCGAGACCCGACGC chr6:108792284-Alternative-C;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Reference T taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc GTAAGGCTGCCT CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaTgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAgtaaggctgcctAGATCGAGACCCGACGC chr6:108792284-Reference-T;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative A taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CTCAACACCGTC CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAActcaacaccgtcAGATCGAGACCCGACGC chr6:108792284-Alternative-A;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative A taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc CGACTTCAGACG CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAcgacttcagacgAGATCGAGACCCGACGC chr6:108792284-Alternative-A;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative A taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc ACATAATTCGGC CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAacataattcggcAGATCGAGACCCGACGC chr6:108792284-Alternative-A;Patient-55 chr6:108792284-TG DeNovo Patient-55 intronic AFG1L 6.4e-05 4.95e-05 -0.32 0.32 -2.67 FOXO3 88741 Alternative A taataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttc ACTCTACTACCA CGACGCGGTCTCTCTCTtaataaactattaaacaagaatcttggtcgaccagcatcttggtcgaccaAgaggagggagaaatgtgagggcatgctgacagaatcgtttcaactcttcAGAGGGAGACGGACGTCTCAATAAactctactaccaAGATCGAGACCCGACGC chr6:108792284-Alternative-A;Patient-55 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Variant T cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GTAAGCGACGCA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgtaagcgacgcaAGATCGAGACCCGACGC chr6:111158679-Variant-T;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Variant T cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GGTTCAATGAGA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAggttcaatgagaAGATCGAGACCCGACGC chr6:111158679-Variant-T;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Variant T cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa AGATCACGTGCG CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagatcacgtgcgAGATCGAGACCCGACGC chr6:111158679-Variant-T;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Variant T cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GGCAGTTCTGCA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAggcagttctgcaAGATCGAGACCCGACGC chr6:111158679-Variant-T;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Variant T cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CATAATGCTCGA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcTgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcataatgctcgaAGATCGAGACCCGACGC chr6:111158679-Variant-T;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative G cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa ATAGATATGCCG CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAatagatatgccgAGATCGAGACCCGACGC chr6:111158679-Alternative-G;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative G cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CGCAGCTGTAAC CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgcagctgtaacAGATCGAGACCCGACGC chr6:111158679-Alternative-G;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative A cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa ACTGTTCCGCGT CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAactgttccgcgtAGATCGAGACCCGACGC chr6:111158679-Alternative-A;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative G cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GCGGTGTTAACC CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcggtgttaaccAGATCGAGACCCGACGC chr6:111158679-Alternative-G;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative G cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CAGGTGTAGTAA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcaggtgtagtaaAGATCGAGACCCGACGC chr6:111158679-Alternative-G;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative G cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa ATTCTAGTCGTC CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcGgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAattctagtcgtcAGATCGAGACCCGACGC chr6:111158679-Alternative-G;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative A cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa AGCTTCCGATAA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagcttccgataaAGATCGAGACCCGACGC chr6:111158679-Alternative-A;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Reference C cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CATCGCGAGACA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcatcgcgagacaAGATCGAGACCCGACGC chr6:111158679-Reference-C;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative A cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CGTCCTTCTAGG CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgtccttctaggAGATCGAGACCCGACGC chr6:111158679-Alternative-A;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative A cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa AGCTGTCATCGG CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagctgtcatcggAGATCGAGACCCGACGC chr6:111158679-Alternative-A;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Reference C cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GGCTTGTGGAGA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAggcttgtggagaAGATCGAGACCCGACGC chr6:111158679-Reference-C;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Reference C cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa CAGCGTGTAGTC CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcagcgtgtagtcAGATCGAGACCCGACGC chr6:111158679-Reference-C;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Reference C cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GCACGTATCATA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcacgtatcataAGATCGAGACCCGACGC chr6:111158679-Reference-C;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Alternative A cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa ACGCTGACCAAG CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcAgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAacgctgaccaagAGATCGAGACCCGACGC chr6:111158679-Alternative-A;Patient-32 chr6:111158679-CT DeNovo Patient-32 intergenic 0.000264 0.00103 -0.01 2.49 0.23 CDK19 22266 Reference C cttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaa GCGGAATTATCA CGACGCGGTCTCTCTCTcttggatggacacggtggctcatgcctgtaatcccagtactttgggaggcCgaggcagatggatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcggaattatcaAGATCGAGACCCGACGC chr6:111158679-Reference-C;Patient-32 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative C ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagt GCGCAAGTTAAT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAgcgcaagttaatAGATCGAGACCCGACGC chr6:111183673-Alternative-C;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative C ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagt CGTATGGCTTAA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAcgtatggcttaaAGATCGAGACCCGACGC chr6:111183673-Alternative-C;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Reference A ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagt GGTTGATGTTGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAggttgatgttgtAGATCGAGACCCGACGC chr6:111183673-Reference-A;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Reference A ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagt AGCATAAGACGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAagcataagacgtAGATCGAGACCCGACGC chr6:111183673-Reference-A;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative C ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagt ATACGCATTACG CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAatacgcattacgAGATCGAGACCCGACGC chr6:111183673-Alternative-C;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Reference A ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagt ATAACGGAACGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAataacggaacgtAGATCGAGACCCGACGC chr6:111183673-Reference-A;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative C ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagt ACCGACAACGAT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAaccgacaacgatAGATCGAGACCCGACGC chr6:111183673-Alternative-C;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative G ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagt AGCCAGAATTGA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAagccagaattgaAGATCGAGACCCGACGC chr6:111183673-Alternative-G;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Variant T ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagt GTTGAGATGCAT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAgttgagatgcatAGATCGAGACCCGACGC chr6:111183673-Variant-T;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative G ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagt CACAGACTTCGC CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAcacagacttcgcAGATCGAGACCCGACGC chr6:111183673-Alternative-G;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Variant T ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagt CATGCGTAAGCG CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAcatgcgtaagcgAGATCGAGACCCGACGC chr6:111183673-Variant-T;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Reference A ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagt CACAGATGGTCG CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAcacagatggtcgAGATCGAGACCCGACGC chr6:111183673-Reference-A;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Reference A ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagt GCCTGATGGTGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttAttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAgcctgatggtgtAGATCGAGACCCGACGC chr6:111183673-Reference-A;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Variant T ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagt GTACACCGGTGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAgtacaccggtgtAGATCGAGACCCGACGC chr6:111183673-Variant-T;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Variant T ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagt CGTCTTGGATAA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAcgtcttggataaAGATCGAGACCCGACGC chr6:111183673-Variant-T;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative G ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagt GGTCGTAATGAA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAggtcgtaatgaaAGATCGAGACCCGACGC chr6:111183673-Alternative-G;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative G ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagt GGTTACGGCATC CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAggttacggcatcAGATCGAGACCCGACGC chr6:111183673-Alternative-G;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative G ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagt AGTGTCGTCGGT CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttGttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAagtgtcgtcggtAGATCGAGACCCGACGC chr6:111183673-Alternative-G;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Alternative C ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagt GGAATTCGGCGA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttCttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAggaattcggcgaAGATCGAGACCCGACGC chr6:111183673-Alternative-C;Patient-17 chr6:111183673-AT Inherited Patient-17 intergenic 0.00052 0.00256 -0.54 0.07 -0.61 CDK19 47260 Variant T ttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagt ACCGTCTTCATA CGACGCGGTCTCTCTCTttcctgcattatttctgtttcctctggtttccttttttgcctatttacttTttttttttttttttgagacagagttttgctttgttgcccagattggagtAGAGGGAGACGGACGTCTCAATAAaccgtcttcataAGATCGAGACCCGACGC chr6:111183673-Variant-T;Patient-17 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative T ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttccc GACGTACGGACA CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgacgtacggacaAGATCGAGACCCGACGC chr6:111416902-Alternative-T;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Variant A ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttccc CATAGTGCGGAC CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAcatagtgcggacAGATCGAGACCCGACGC chr6:111416902-Variant-A;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Variant A ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttccc GGTAACGCGTAC CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAggtaacgcgtacAGATCGAGACCCGACGC chr6:111416902-Variant-A;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Variant A ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttccc AGGACGGCAGTT CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAaggacggcagttAGATCGAGACCCGACGC chr6:111416902-Variant-A;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Variant A ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttccc ACAAGACCTCGG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAacaagacctcggAGATCGAGACCCGACGC chr6:111416902-Variant-A;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative C ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttccc GGTGGACAATTA CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAggtggacaattaAGATCGAGACCCGACGC chr6:111416902-Alternative-C;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative T ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttccc GGAGTAGAGTAA CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAggagtagagtaaAGATCGAGACCCGACGC chr6:111416902-Alternative-T;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Variant A ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttccc CGGATTATCGAT CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtAatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAcggattatcgatAGATCGAGACCCGACGC chr6:111416902-Variant-A;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative C ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttccc GAGATAGGACGG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgagataggacggAGATCGAGACCCGACGC chr6:111416902-Alternative-C;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative C ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttccc GAATGTGTGCAT CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgaatgtgtgcatAGATCGAGACCCGACGC chr6:111416902-Alternative-C;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative C ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttccc GCGGTTAGTTCG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgcggttagttcgAGATCGAGACCCGACGC chr6:111416902-Alternative-C;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative T ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttccc AATATGTCGGAG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAaatatgtcggagAGATCGAGACCCGACGC chr6:111416902-Alternative-T;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative C ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttccc GTCGAATCATAC CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtCatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgtcgaatcatacAGATCGAGACCCGACGC chr6:111416902-Alternative-C;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative T ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttccc GCAGTCAAGAAG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgcagtcaagaagAGATCGAGACCCGACGC chr6:111416902-Alternative-T;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Reference G ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttccc GTGTCTAACGCG CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAgtgtctaacgcgAGATCGAGACCCGACGC chr6:111416902-Reference-G;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Reference G ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttccc CTAACTTAGCGA CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAActaacttagcgaAGATCGAGACCCGACGC chr6:111416902-Reference-G;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Alternative T ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttccc ACTTATGCGTCA CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtTatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAacttatgcgtcaAGATCGAGACCCGACGC chr6:111416902-Alternative-T;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Reference G ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttccc CTAGTGCTCTAT CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAActagtgctctatAGATCGAGACCCGACGC chr6:111416902-Reference-G;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Reference G ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttccc AAGGCGAATCAT CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAaaggcgaatcatAGATCGAGACCCGACGC chr6:111416902-Reference-G;Patient-71 chr6:111416902-GA DeNovo Patient-71 intronic SLC16A10 NA 9.9e-05 0.14 4.9 0.65 SLC16A10 8120 Reference G ggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttccc ATTACGGTCGGC CGACGCGGTCTCTCTCTggtgggaggtaattgaatcatgggggcaggttttcctgtgctgttcttgtGatagttaataagtctcatgagatctgatggtttataaagggcagttcccAGAGGGAGACGGACGTCTCAATAAattacggtcggcAGATCGAGACCCGACGC chr6:111416902-Reference-G;Patient-71 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Reference G atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctag AAGTGTACGCGC CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAaagtgtacgcgcAGATCGAGACCCGACGC chr6:112097502-Reference-G;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Reference G atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctag CGGCTACGTTGT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAcggctacgttgtAGATCGAGACCCGACGC chr6:112097502-Reference-G;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Reference G atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctag CAAGTTCCACGA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAcaagttccacgaAGATCGAGACCCGACGC chr6:112097502-Reference-G;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative A atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctag GCGATACTCGGT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAgcgatactcggtAGATCGAGACCCGACGC chr6:112097502-Alternative-A;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Variant T atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctag ATTCGGCGATTA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAattcggcgattaAGATCGAGACCCGACGC chr6:112097502-Variant-T;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Variant T atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctag AACGCTATTGCA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAaacgctattgcaAGATCGAGACCCGACGC chr6:112097502-Variant-T;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Variant T atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctag CTAATAACGCCT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAActaataacgcctAGATCGAGACCCGACGC chr6:112097502-Variant-T;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative A atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctag ACCGTCCGTCTA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAaccgtccgtctaAGATCGAGACCCGACGC chr6:112097502-Alternative-A;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative A atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctag AACTTACCGGAT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAaacttaccggatAGATCGAGACCCGACGC chr6:112097502-Alternative-A;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Reference G atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctag GGATAATCAACG CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAggataatcaacgAGATCGAGACCCGACGC chr6:112097502-Reference-G;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative C atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctag GCAGTCATCTAA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAgcagtcatctaaAGATCGAGACCCGACGC chr6:112097502-Alternative-C;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative C atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctag AACCGGCATACT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAaaccggcatactAGATCGAGACCCGACGC chr6:112097502-Alternative-C;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative A atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctag CTGGTATTGACA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAActggtattgacaAGATCGAGACCCGACGC chr6:112097502-Alternative-A;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Variant T atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctag GTTGTTACCACA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAgttgttaccacaAGATCGAGACCCGACGC chr6:112097502-Variant-T;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Variant T atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctag ACACCGAACGTC CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagTggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAacaccgaacgtcAGATCGAGACCCGACGC chr6:112097502-Variant-T;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative C atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctag GGTTGTACTCGG CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAggttgtactcggAGATCGAGACCCGACGC chr6:112097502-Alternative-C;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative C atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctag GCGCGATATCAG CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAgcgcgatatcagAGATCGAGACCCGACGC chr6:112097502-Alternative-C;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Reference G atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctag CGTTGGTCGTGA CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagGggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAcgttggtcgtgaAGATCGAGACCCGACGC chr6:112097502-Reference-G;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative A atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctag CTTACGAGCGGT CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagAggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAActtacgagcggtAGATCGAGACCCGACGC chr6:112097502-Alternative-A;Patient-81 chr6:112097502-GT DeNovo Patient-81 intronic FYN 0.000701 0.000799 -0.33 0.31 -7.9 FYN 97152 Alternative C atcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctag ATCGTTACCGCG CGACGCGGTCTCTCTCTatcacccaggggttggagtggagcaggggcagtgctggctgggacacaagCggttgcaaatggatagttttcccacagatacttacataaaaatatctagAGAGGGAGACGGACGTCTCAATAAatcgttaccgcgAGATCGAGACCCGACGC chr6:112097502-Alternative-C;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative T aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GACGGCTACAAC CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAgacggctacaacAGATCGAGACCCGACGC chr6:112112590-Alternative-T;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Reference G aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct AACCAAGCCGAA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAaaccaagccgaaAGATCGAGACCCGACGC chr6:112112590-Reference-G;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Reference G aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct ACCAACGGAACG CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAaccaacggaacgAGATCGAGACCCGACGC chr6:112112590-Reference-G;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Reference G aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CGCGCAGTTGTT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcgcgcagttgttAGATCGAGACCCGACGC chr6:112112590-Reference-G;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative T aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GATTCAAGCGGC CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAgattcaagcggcAGATCGAGACCCGACGC chr6:112112590-Alternative-T;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative T aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GGCACGCACTAA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAggcacgcactaaAGATCGAGACCCGACGC chr6:112112590-Alternative-T;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Reference G aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CTGTCGTCGTCA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAActgtcgtcgtcaAGATCGAGACCCGACGC chr6:112112590-Reference-G;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative T aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CGTGCATTGCGA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcgtgcattgcgaAGATCGAGACCCGACGC chr6:112112590-Alternative-T;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative T aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CTATCTCGCGAC CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccTtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAActatctcgcgacAGATCGAGACCCGACGC chr6:112112590-Alternative-T;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Reference G aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GATGCGGTGACT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccGtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAgatgcggtgactAGATCGAGACCCGACGC chr6:112112590-Reference-G;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Variant A aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CGTCTGGTTCAC CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcgtctggttcacAGATCGAGACCCGACGC chr6:112112590-Variant-A;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Variant A aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GGACGTCCAATA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAggacgtccaataAGATCGAGACCCGACGC chr6:112112590-Variant-A;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Variant A aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CATGTGAACCTA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcatgtgaacctaAGATCGAGACCCGACGC chr6:112112590-Variant-A;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative C aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct AGCGTTCTGGCA CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAagcgttctggcaAGATCGAGACCCGACGC chr6:112112590-Alternative-C;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative C aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GTGCGGATAGCT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAgtgcggatagctAGATCGAGACCCGACGC chr6:112112590-Alternative-C;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Variant A aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CGTATGAGGTGG CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcgtatgaggtggAGATCGAGACCCGACGC chr6:112112590-Variant-A;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Variant A aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct ACTGGCATTAGT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccAtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAactggcattagtAGATCGAGACCCGACGC chr6:112112590-Variant-A;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative C aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CATCTCGCAATT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAcatctcgcaattAGATCGAGACCCGACGC chr6:112112590-Alternative-C;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative C aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct GAGATGTTCGTT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAAgagatgttcgttAGATCGAGACCCGACGC chr6:112112590-Alternative-C;Patient-81 chr6:112112590-GA DeNovo Patient-81 intronic FYN 0.000733 0.000479 0.04 3.18 1.1 FYN 82064 Alternative C aaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatct CTCGTTATGGTT CGACGCGGTCTCTCTCTaaaaataaaagtaataaatgctgggttcactgggtagtatagattgaaccCtgtcccccaaaaagatatgaagttctaacccccaagtacctcagcatctAGAGGGAGACGGACGTCTCAATAActcgttatggttAGATCGAGACCCGACGC chr6:112112590-Alternative-C;Patient-81 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Reference G aaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GCAAGGCTGTGA CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgcaaggctgtgaAGATCGAGACCCGACGC chr6:112134404-Reference-G;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Reference G aaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ACGATAGGATAC CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAacgataggatacAGATCGAGACCCGACGC chr6:112134404-Reference-G;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Reference G aaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ACCTCGTGCGTT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAacctcgtgcgttAGATCGAGACCCGACGC chr6:112134404-Reference-G;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Reference G aaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ACTCGGTTAAGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAactcggttaagtAGATCGAGACCCGACGC chr6:112134404-Reference-G;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative T aaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CTCGGCGTCAAT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAActcggcgtcaatAGATCGAGACCCGACGC chr6:112134404-Alternative-T;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative T aaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ACAATGCGACCG CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAacaatgcgaccgAGATCGAGACCCGACGC chr6:112134404-Alternative-T;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative T aaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CGCGAGTAGTGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAcgcgagtagtgtAGATCGAGACCCGACGC chr6:112134404-Alternative-T;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative T aaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GCATAGAGCAAG CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgcatagagcaagAGATCGAGACCCGACGC chr6:112134404-Alternative-T;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Reference G aaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GCGTAACCGCAA CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaGatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgcgtaaccgcaaAGATCGAGACCCGACGC chr6:112134404-Reference-G;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative A aaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CGCAATGTTCTT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAcgcaatgttcttAGATCGAGACCCGACGC chr6:112134404-Alternative-A;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative A aaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CTCTCTGTAACG CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAActctctgtaacgAGATCGAGACCCGACGC chr6:112134404-Alternative-A;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative A aaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ATCGCGTCTGGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAatcgcgtctggtAGATCGAGACCCGACGC chr6:112134404-Alternative-A;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Variant C aaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CGTAAGGAGACA CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAcgtaaggagacaAGATCGAGACCCGACGC chr6:112134404-Variant-C;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Variant C aaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact CATAGATGCTGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAcatagatgctgtAGATCGAGACCCGACGC chr6:112134404-Variant-C;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Variant C aaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ATTGCGTCGTGG CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAattgcgtcgtggAGATCGAGACCCGACGC chr6:112134404-Variant-C;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative T aaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GTTCACGACGGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaTatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgttcacgacggtAGATCGAGACCCGACGC chr6:112134404-Alternative-T;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Variant C aaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact AAGGCGAATAAG CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAaaggcgaataagAGATCGAGACCCGACGC chr6:112134404-Variant-C;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Variant C aaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact ACAGCATCTATC CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaCatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAacagcatctatcAGATCGAGACCCGACGC chr6:112134404-Variant-C;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative A aaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GTGTAGAAGTGT CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgtgtagaagtgtAGATCGAGACCCGACGC chr6:112134404-Alternative-A;Patient-99 chr6:112134404-GC DeNovo Patient-99 intronic FYN NA 0.00016 -0.06 1.77 -0.12 FYN 60250 Alternative A aaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaact GTGATCGCTTAA CGACGCGGTCTCTCTCTaaagttggatttgttttcaaagttaaataactgatattttccctctgctaAatttgcgattatctgtagtttggtgatttttgaaagagttcaaagaactAGAGGGAGACGGACGTCTCAATAAgtgatcgcttaaAGATCGAGACCCGACGC chr6:112134404-Alternative-A;Patient-99 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Variant G gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CATCGCATAGAT CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcatcgcatagatAGATCGAGACCCGACGC chr6:112205049-Variant-G;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative C gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa AGCAGTTGCATT CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAagcagttgcattAGATCGAGACCCGACGC chr6:112205049-Alternative-C;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Variant G gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CAGATAACACGA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcagataacacgaAGATCGAGACCCGACGC chr6:112205049-Variant-G;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Variant G gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa ACGTTCCGTCAA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAacgttccgtcaaAGATCGAGACCCGACGC chr6:112205049-Variant-G;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Variant G gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa AGCGCCAGTATA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAagcgccagtataAGATCGAGACCCGACGC chr6:112205049-Variant-G;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative T gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CAGGAGCTCGTT CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcaggagctcgttAGATCGAGACCCGACGC chr6:112205049-Alternative-T;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Variant G gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GCATACTCTTCG CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagGaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAgcatactcttcgAGATCGAGACCCGACGC chr6:112205049-Variant-G;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative T gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GGATAGCAACCG CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAggatagcaaccgAGATCGAGACCCGACGC chr6:112205049-Alternative-T;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative T gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa ATCGTATGCACA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAatcgtatgcacaAGATCGAGACCCGACGC chr6:112205049-Alternative-T;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative T gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CGTCAACGGTGT CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcgtcaacggtgtAGATCGAGACCCGACGC chr6:112205049-Alternative-T;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative T gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa ATAACGACATCG CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagTaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAataacgacatcgAGATCGAGACCCGACGC chr6:112205049-Alternative-T;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Reference A gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GGCTAACAAGAT CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAggctaacaagatAGATCGAGACCCGACGC chr6:112205049-Reference-A;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative C gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GGTATGGATCGG CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAggtatggatcggAGATCGAGACCCGACGC chr6:112205049-Alternative-C;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Reference A gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GTAATAGCGGCG CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAgtaatagcggcgAGATCGAGACCCGACGC chr6:112205049-Reference-A;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative C gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CGCGCAATGTCA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcgcgcaatgtcaAGATCGAGACCCGACGC chr6:112205049-Alternative-C;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative C gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa GACATTGGTACA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAgacattggtacaAGATCGAGACCCGACGC chr6:112205049-Alternative-C;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Reference A gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa AGATAGGATCGA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAagataggatcgaAGATCGAGACCCGACGC chr6:112205049-Reference-A;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Reference A gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa CGGTCTATCCGA CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAcggtctatccgaAGATCGAGACCCGACGC chr6:112205049-Reference-A;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Alternative C gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa ACGTTGATGTGC CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagCaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAacgttgatgtgcAGATCGAGACCCGACGC chr6:112205049-Alternative-C;Patient-65 chr6:112205049-AG Inherited Patient-65 intergenic 0.000765 0.000513 -0.07 1.76 -0.95 FYN 10393 Reference A gttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaa AAGGAGATGTTC CGACGCGGTCTCTCTCTgttgaaaagtgaacccaggaaacccagtctgggaatgagggtaggaagagAaggaagtccacagatggtgaattatgaagccagtactcctgggggcaaaAGAGGGAGACGGACGTCTCAATAAaaggagatgttcAGATCGAGACCCGACGC chr6:112205049-Reference-A;Patient-65 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative G tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc AGCGTATCGTCG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAagcgtatcgtcgAGATCGAGACCCGACGC chr6:112220841-Alternative-G;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Reference C tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc CTCGTTCTCATT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAActcgttctcattAGATCGAGACCCGACGC chr6:112220841-Reference-C;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Reference C tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ACCTAAGTTCGT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAacctaagttcgtAGATCGAGACCCGACGC chr6:112220841-Reference-C;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Reference C tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ATACGCGCTAAT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAatacgcgctaatAGATCGAGACCCGACGC chr6:112220841-Reference-C;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative G tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc GTGCTCGGTGAT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAgtgctcggtgatAGATCGAGACCCGACGC chr6:112220841-Alternative-G;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Reference C tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc CACAACCTTGAT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAcacaaccttgatAGATCGAGACCCGACGC chr6:112220841-Reference-C;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative G tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc AGGTGTAGGTCG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAaggtgtaggtcgAGATCGAGACCCGACGC chr6:112220841-Alternative-G;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative G tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc CGCATAGTTGAC CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAcgcatagttgacAGATCGAGACCCGACGC chr6:112220841-Alternative-G;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative G tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc AACCATGACCGG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataGagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAaaccatgaccggAGATCGAGACCCGACGC chr6:112220841-Alternative-G;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Reference C tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ACGATTCTGCGG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataCagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAacgattctgcggAGATCGAGACCCGACGC chr6:112220841-Reference-C;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Variant T tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc GGATACGTACAC CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAggatacgtacacAGATCGAGACCCGACGC chr6:112220841-Variant-T;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative A tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ACTTGGATTGCA CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAacttggattgcaAGATCGAGACCCGACGC chr6:112220841-Alternative-A;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative A tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc GGACGTATACTT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAggacgtatacttAGATCGAGACCCGACGC chr6:112220841-Alternative-A;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Variant T tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc GCGGCTTGATCA CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAgcggcttgatcaAGATCGAGACCCGACGC chr6:112220841-Variant-T;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Variant T tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc CGTGCGGTTCAT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAcgtgcggttcatAGATCGAGACCCGACGC chr6:112220841-Variant-T;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Variant T tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ACATCGGTTGCG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAacatcggttgcgAGATCGAGACCCGACGC chr6:112220841-Variant-T;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative A tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc GCATAATCGACT CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAgcataatcgactAGATCGAGACCCGACGC chr6:112220841-Alternative-A;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative A tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc AGCATACGTCAC CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAagcatacgtcacAGATCGAGACCCGACGC chr6:112220841-Alternative-A;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Variant T tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc ACAGCGCCTAAG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataTagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAacagcgcctaagAGATCGAGACCCGACGC chr6:112220841-Variant-T;Patient-55 chr6:112220841-CT Inherited Patient-55 intergenic 0.000319 0.00103 -0.06 1.78 0.24 FYN 26185 Alternative A tggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatc AGAGTCTGGTGG CGACGCGGTCTCTCTCTtggtggcagtggggaggacaggagaaccacaactgcttgtaaaaaacataAagtttatagtgtgttttcacttagcaccattcccctagcaacctccatcAGAGGGAGACGGACGTCTCAATAAagagtctggtggAGATCGAGACCCGACGC chr6:112220841-Alternative-A;Patient-55 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative T ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CACATAGGTTCA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcacataggttcaAGATCGAGACCCGACGC chr6:114078743-Alternative-T;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative T ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CGCGAATAGTTA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcgcgaatagttaAGATCGAGACCCGACGC chr6:114078743-Alternative-T;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative T ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CAATAGAGGCGA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcaatagaggcgaAGATCGAGACCCGACGC chr6:114078743-Alternative-T;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative T ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CGATAGCTAGAT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcgatagctagatAGATCGAGACCCGACGC chr6:114078743-Alternative-T;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Variant C ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GAGGTGATTAGT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAgaggtgattagtAGATCGAGACCCGACGC chr6:114078743-Variant-C;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative G ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GGTGGAGAGCAA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAggtggagagcaaAGATCGAGACCCGACGC chr6:114078743-Alternative-G;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Reference A ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CGGAATTGAACG CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcggaattgaacgAGATCGAGACCCGACGC chr6:114078743-Reference-A;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Variant C ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GCGAATTAGCTT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAgcgaattagcttAGATCGAGACCCGACGC chr6:114078743-Variant-C;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative T ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GATTGACCTAGA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctTaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAgattgacctagaAGATCGAGACCCGACGC chr6:114078743-Alternative-T;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Variant C ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GACAAGACCAAT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAgacaagaccaatAGATCGAGACCCGACGC chr6:114078743-Variant-C;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Reference A ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CGGTGACAAGTC CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAcggtgacaagtcAGATCGAGACCCGACGC chr6:114078743-Reference-A;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Reference A ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac ACTTCGAATCGC CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAacttcgaatcgcAGATCGAGACCCGACGC chr6:114078743-Reference-A;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Reference A ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac AGTTAGGTGAGT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAagttaggtgagtAGATCGAGACCCGACGC chr6:114078743-Reference-A;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Variant C ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac AGGCCGCAATTA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAaggccgcaattaAGATCGAGACCCGACGC chr6:114078743-Variant-C;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Variant C ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac ACGATACGCGAG CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctCaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAacgatacgcgagAGATCGAGACCCGACGC chr6:114078743-Variant-C;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Reference A ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac ACCTTACTGCGT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctAaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAaccttactgcgtAGATCGAGACCCGACGC chr6:114078743-Reference-A;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative G ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac CTCTAGTCACTA CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAActctagtcactaAGATCGAGACCCGACGC chr6:114078743-Alternative-G;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative G ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac AGCGTAATTACG CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAagcgtaattacgAGATCGAGACCCGACGC chr6:114078743-Alternative-G;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative G ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac AATACGCTGCGC CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAaatacgctgcgcAGATCGAGACCCGACGC chr6:114078743-Alternative-G;Patient-100 chr6:114078743-AC DeNovo Patient-100 intergenic NA 3.91e-05 0.03 3.12 -0.26 MARCKS 99783 Alternative G ctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaac GACGCTCTGAGT CGACGCGGTCTCTCTCTctgggataagcaaaatcgtgtggtccacaccatcagactctaactcacctGaaatagttttctgttctcttatagtaaaagtgacatgtaaaaatcaaacAGAGGGAGACGGACGTCTCAATAAgacgctctgagtAGATCGAGACCCGACGC chr6:114078743-Alternative-G;Patient-100 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Variant T tattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GGTACCGAATCG CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAggtaccgaatcgAGATCGAGACCCGACGC chr6:114154074-Variant-T;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Variant T tattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg AGGAGTCAATGT CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAaggagtcaatgtAGATCGAGACCCGACGC chr6:114154074-Variant-T;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Variant T tattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg AAGGCGTATAGT CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAaaggcgtatagtAGATCGAGACCCGACGC chr6:114154074-Variant-T;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative G tattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg CAGATTGAGTCA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAcagattgagtcaAGATCGAGACCCGACGC chr6:114154074-Alternative-G;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Variant T tattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg CGGATATCAGCG CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAcggatatcagcgAGATCGAGACCCGACGC chr6:114154074-Variant-T;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative G tattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg ATAGATCCTCGA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAatagatcctcgaAGATCGAGACCCGACGC chr6:114154074-Alternative-G;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative G tattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GACATTCTGTTC CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAgacattctgttcAGATCGAGACCCGACGC chr6:114154074-Alternative-G;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Variant T tattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GGATCTAATGAG CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaTtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAggatctaatgagAGATCGAGACCCGACGC chr6:114154074-Variant-T;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative A tattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg AATAGTAGCCGA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAaatagtagccgaAGATCGAGACCCGACGC chr6:114154074-Alternative-A;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative A tattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg CTCTTGCGTCGA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAActcttgcgtcgaAGATCGAGACCCGACGC chr6:114154074-Alternative-A;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative G tattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg ACGTCAAGACGG CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAacgtcaagacggAGATCGAGACCCGACGC chr6:114154074-Alternative-G;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Reference C tattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GATGTGAGGTTA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAgatgtgaggttaAGATCGAGACCCGACGC chr6:114154074-Reference-C;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative A tattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GTCGAAGTCGTC CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAgtcgaagtcgtcAGATCGAGACCCGACGC chr6:114154074-Alternative-A;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative A tattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg AAGTACGCATGT CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAaagtacgcatgtAGATCGAGACCCGACGC chr6:114154074-Alternative-A;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Reference C tattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GCATCCAATAAG CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAgcatccaataagAGATCGAGACCCGACGC chr6:114154074-Reference-C;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative G tattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg ACTATAGCTGAC CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaGtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAactatagctgacAGATCGAGACCCGACGC chr6:114154074-Alternative-G;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Alternative A tattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GCCTTGTCGTCA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaAtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAgccttgtcgtcaAGATCGAGACCCGACGC chr6:114154074-Alternative-A;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Reference C tattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg GGATCACCATTA CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAggatcaccattaAGATCGAGACCCGACGC chr6:114154074-Reference-C;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Reference C tattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg ATTGGTCCGACT CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAattggtccgactAGATCGAGACCCGACGC chr6:114154074-Reference-C;Patient-75 chr6:114154074-CT DeNovo Patient-75 intergenic NA 0.00016 -0.03 2.15 0.29 MARCKS 24452 Reference C tattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatg CGATAATGACCT CGACGCGGTCTCTCTCTtattctattattagcatgctatgagtctaatgcataattaggtataataaCtaatgatactttgctcatatactttgtcctaaaatctcttaaaaacatgAGAGGGAGACGGACGTCTCAATAAcgataatgacctAGATCGAGACCCGACGC chr6:114154074-Reference-C;Patient-75 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Reference A agccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagca ACAAGCCGCTTA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAacaagccgcttaAGATCGAGACCCGACGC chr6:114305184-Reference-A;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative T agccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagca GCATTGAACGTT CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAgcattgaacgttAGATCGAGACCCGACGC chr6:114305184-Alternative-T;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative T agccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagca CATAGATGGAAC CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAcatagatggaacAGATCGAGACCCGACGC chr6:114305184-Alternative-T;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative T agccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagca AGCATGATCGCG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAagcatgatcgcgAGATCGAGACCCGACGC chr6:114305184-Alternative-T;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative T agccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagca GTGTCTATATGG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAgtgtctatatggAGATCGAGACCCGACGC chr6:114305184-Alternative-T;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative C agccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagca CGAGTAATCCGG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAcgagtaatccggAGATCGAGACCCGACGC chr6:114305184-Alternative-C;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative C agccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagca GGCTTAACATCA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAggcttaacatcaAGATCGAGACCCGACGC chr6:114305184-Alternative-C;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Reference A agccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagca GATGTGCTCCGA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAgatgtgctccgaAGATCGAGACCCGACGC chr6:114305184-Reference-A;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Reference A agccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagca AAGGAACGTGAA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAaaggaacgtgaaAGATCGAGACCCGACGC chr6:114305184-Reference-A;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative C agccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagca AGCGCATGCTGA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAagcgcatgctgaAGATCGAGACCCGACGC chr6:114305184-Alternative-C;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Reference A agccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagca GATAGTTGTTCG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAgatagttgttcgAGATCGAGACCCGACGC chr6:114305184-Reference-A;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Reference A agccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagca GGCGAGATGACT CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacAtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAggcgagatgactAGATCGAGACCCGACGC chr6:114305184-Reference-A;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Variant G agccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagca ACGCTCACGCAA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAacgctcacgcaaAGATCGAGACCCGACGC chr6:114305184-Variant-G;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Variant G agccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagca ATATGTGCTTCG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAatatgtgcttcgAGATCGAGACCCGACGC chr6:114305184-Variant-G;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative T agccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagca AGCTAGCTTCTT CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacTtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAagctagcttcttAGATCGAGACCCGACGC chr6:114305184-Alternative-T;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Variant G agccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagca AGCTAATATCGG CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAagctaatatcggAGATCGAGACCCGACGC chr6:114305184-Variant-G;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Variant G agccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagca GCGTCATGTAAT CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAgcgtcatgtaatAGATCGAGACCCGACGC chr6:114305184-Variant-G;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative C agccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagca AGCTATCGTGTT CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAagctatcgtgttAGATCGAGACCCGACGC chr6:114305184-Alternative-C;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Variant G agccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagca GGAGTTGTTAGA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacGtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAggagttgttagaAGATCGAGACCCGACGC chr6:114305184-Variant-G;Patient-88 chr6:114305184-AG DeNovo Patient-88 intergenic NA 0.000513 0.24 6.48 1.21 HS3ST5 78856 Alternative C agccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagca ATCCTGTTGGAA CGACGCGGTCTCTCTCTagccattccacacctaagtatttatttaagagaaataagaggatacaaacCtataaagatttgtacatgaatgtacataggggcttaatttataatagcaAGAGGGAGACGGACGTCTCAATAAatcctgttggaaAGATCGAGACCCGACGC chr6:114305184-Alternative-C;Patient-88 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Reference G aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt GGAGTACTCCGT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAggagtactccgtAGATCGAGACCCGACGC chr6:114347897-Reference-G;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Reference G aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CGAGTGCTCGAT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcgagtgctcgatAGATCGAGACCCGACGC chr6:114347897-Reference-G;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative T aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt GAATAAGCCACT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAgaataagccactAGATCGAGACCCGACGC chr6:114347897-Alternative-T;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Reference G aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CTCAACACGGAC CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAActcaacacggacAGATCGAGACCCGACGC chr6:114347897-Reference-G;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative T aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt AAGTCTATCGCG CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAaagtctatcgcgAGATCGAGACCCGACGC chr6:114347897-Alternative-T;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Reference G aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CGTTCCGGCATT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcgttccggcattAGATCGAGACCCGACGC chr6:114347897-Reference-G;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Variant A aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CGGTCGTCCTAT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcggtcgtcctatAGATCGAGACCCGACGC chr6:114347897-Variant-A;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative C aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CGCTCGATTCAA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcgctcgattcaaAGATCGAGACCCGACGC chr6:114347897-Alternative-C;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative T aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt GCGAATCAACGG CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAgcgaatcaacggAGATCGAGACCCGACGC chr6:114347897-Alternative-T;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Variant A aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CGCCGTAGTCAA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcgccgtagtcaaAGATCGAGACCCGACGC chr6:114347897-Variant-A;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Reference G aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt GATAACAGGACG CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaGgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAgataacaggacgAGATCGAGACCCGACGC chr6:114347897-Reference-G;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative C aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CAGCATACTACG CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcagcatactacgAGATCGAGACCCGACGC chr6:114347897-Alternative-C;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative C aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CTCGTGACGCTT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAActcgtgacgcttAGATCGAGACCCGACGC chr6:114347897-Alternative-C;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Variant A aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt ACGCTGAGAATA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAacgctgagaataAGATCGAGACCCGACGC chr6:114347897-Variant-A;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Variant A aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CTACCGGACGAA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAActaccggacgaaAGATCGAGACCCGACGC chr6:114347897-Variant-A;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Variant A aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt GATCAAGACCTT CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaAgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAgatcaagaccttAGATCGAGACCCGACGC chr6:114347897-Variant-A;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative C aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CTAACCAGTACA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAActaaccagtacaAGATCGAGACCCGACGC chr6:114347897-Alternative-C;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative T aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt AATCGGCGGAGA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAaatcggcggagaAGATCGAGACCCGACGC chr6:114347897-Alternative-T;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative T aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CAGCTCCGTAGA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaTgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcagctccgtagaAGATCGAGACCCGACGC chr6:114347897-Alternative-T;Patient-4 chr6:114347897-GA DeNovo Patient-4 intergenic NA 0.000513 0.02 2.94 0.16 HS3ST5 36143 Alternative C aatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggt CACGACTCCGAA CGACGCGGTCTCTCTCTaatcccagctacttgggaggctgaggccggagaattgcttgaactcgggaCgtggaggttgcagtgagccgagatcatgctgttgcactccagcctgggtAGAGGGAGACGGACGTCTCAATAAcacgactccgaaAGATCGAGACCCGACGC chr6:114347897-Alternative-C;Patient-4 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative G gtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CACTATACGAAC CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcactatacgaacAGATCGAGACCCGACGC chr6:114393565-Alternative-G;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative G gtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGTGCTTGTTCG CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcgtgcttgttcgAGATCGAGACCCGACGC chr6:114393565-Alternative-G;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative G gtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaattta GGTCGACAGCTT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAggtcgacagcttAGATCGAGACCCGACGC chr6:114393565-Alternative-G;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative G gtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGTGTCGCGTAA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcgtgtcgcgtaaAGATCGAGACCCGACGC chr6:114393565-Alternative-G;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative T gtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaattta GTTGACCTAAGT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAgttgacctaagtAGATCGAGACCCGACGC chr6:114393565-Alternative-T;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative T gtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaattta ACTGCGCATATA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAactgcgcatataAGATCGAGACCCGACGC chr6:114393565-Alternative-T;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative G gtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CATGCGTCAGGT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagGcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcatgcgtcaggtAGATCGAGACCCGACGC chr6:114393565-Alternative-G;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative T gtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGTACAAGTTCA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcgtacaagttcaAGATCGAGACCCGACGC chr6:114393565-Alternative-T;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative T gtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaattta ATTAACCGGAGA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAattaaccggagaAGATCGAGACCCGACGC chr6:114393565-Alternative-T;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Alternative T gtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CTGGTTGTGTAA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagTcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAActggttgtgtaaAGATCGAGACCCGACGC chr6:114393565-Alternative-T;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Variant A gtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGGATGACGCTT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcggatgacgcttAGATCGAGACCCGACGC chr6:114393565-Variant-A;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Reference C gtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CTAGTATGTCGA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAActagtatgtcgaAGATCGAGACCCGACGC chr6:114393565-Reference-C;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Reference C gtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGGAGACAATTA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcggagacaattaAGATCGAGACCCGACGC chr6:114393565-Reference-C;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Reference C gtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGTGCACAGCAT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcgtgcacagcatAGATCGAGACCCGACGC chr6:114393565-Reference-C;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Reference C gtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaattta GGCGAACCAGAA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAggcgaaccagaaAGATCGAGACCCGACGC chr6:114393565-Reference-C;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Variant A gtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaattta CGCGCAATTAGG CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAcgcgcaattaggAGATCGAGACCCGACGC chr6:114393565-Variant-A;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Reference C gtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaattta GAGATAAGAGCA CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagCcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAgagataagagcaAGATCGAGACCCGACGC chr6:114393565-Reference-C;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Variant A gtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaattta GACGCCAATTCG CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAgacgccaattcgAGATCGAGACCCGACGC chr6:114393565-Variant-A;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Variant A gtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaattta AACTCGGCGTGT CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAaactcggcgtgtAGATCGAGACCCGACGC chr6:114393565-Variant-A;Patient-55 chr6:114393565-CA DeNovo Patient-55 intergenic NA 0.000513 0.37 8.05 2.4 HS3ST5 9523 Variant A gtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaattta ACGCTCGTTGTC CGACGCGGTCTCTCTCTgtggtgatgcccatccactggcatgctacagctggctcctactttggaagAcagttgttaaagtcattattaaaaattaaaattgtattatataaatttaAGAGGGAGACGGACGTCTCAATAAacgctcgttgtcAGATCGAGACCCGACGC chr6:114393565-Variant-A;Patient-55 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative T gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga GTCAACGTCTGG CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAgtcaacgtctggAGATCGAGACCCGACGC chr6:116803596-Alternative-T;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Variant A gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CTAAGAGCTGTT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAActaagagctgttAGATCGAGACCCGACGC chr6:116803596-Variant-A;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Variant A gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CAATGTGCATGT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcaatgtgcatgtAGATCGAGACCCGACGC chr6:116803596-Variant-A;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative T gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga GGCTTACGCTTC CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAggcttacgcttcAGATCGAGACCCGACGC chr6:116803596-Alternative-T;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative T gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga GTACTCGCTTCG CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAgtactcgcttcgAGATCGAGACCCGACGC chr6:116803596-Alternative-T;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative T gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga ACGAACGCCACA CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAacgaacgccacaAGATCGAGACCCGACGC chr6:116803596-Alternative-T;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Reference G gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CGCCATTGAACG CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcgccattgaacgAGATCGAGACCCGACGC chr6:116803596-Reference-G;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Reference G gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga GACGATTCATGG CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAgacgattcatggAGATCGAGACCCGACGC chr6:116803596-Reference-G;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative C gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CGTGGCTTGAGT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcgtggcttgagtAGATCGAGACCCGACGC chr6:116803596-Alternative-C;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Variant A gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga ACCTTGCTGACT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAaccttgctgactAGATCGAGACCCGACGC chr6:116803596-Variant-A;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative T gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga AGAGCACAATCA CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatTtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAagagcacaatcaAGATCGAGACCCGACGC chr6:116803596-Alternative-T;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Variant A gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CGTTCGACGAAC CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcgttcgacgaacAGATCGAGACCCGACGC chr6:116803596-Variant-A;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Variant A gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga GATAGTACGCGG CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatAtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAgatagtacgcggAGATCGAGACCCGACGC chr6:116803596-Variant-A;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Reference G gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga AGCGCATAAGAT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAagcgcataagatAGATCGAGACCCGACGC chr6:116803596-Reference-G;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative C gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CGGATATACTTC CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcggatatacttcAGATCGAGACCCGACGC chr6:116803596-Alternative-C;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Reference G gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CGGACAGACGTT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcggacagacgttAGATCGAGACCCGACGC chr6:116803596-Reference-G;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Reference G gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga ATTAACGACCGT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatGtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAattaacgaccgtAGATCGAGACCCGACGC chr6:116803596-Reference-G;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative C gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga AACGCTCCTTAT CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAaacgctccttatAGATCGAGACCCGACGC chr6:116803596-Alternative-C;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative C gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga CAGATTACGGAA CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAcagattacggaaAGATCGAGACCCGACGC chr6:116803596-Alternative-C;Patient-82 chr6:116803596-GA DeNovo Patient-82 intergenic NA 0.000513 -0.05 2 0.83 TRAPPC3L 63176 Alternative C gatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagaga AGATTAATCCGC CGACGCGGTCTCTCTCTgatgaggccctcaactaaggggcgaaggaaaatcaagatgaatttaggatCtaggattaaaagaatttggtgacagattggatgtaaatagtaagagagaAGAGGGAGACGGACGTCTCAATAAagattaatccgcAGATCGAGACCCGACGC chr6:116803596-Alternative-C;Patient-82 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative C atgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CTGCTTGCGCTT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAActgcttgcgcttAGATCGAGACCCGACGC chr6:117093107-Alternative-C;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative C atgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac ACGCATGAGTAA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAacgcatgagtaaAGATCGAGACCCGACGC chr6:117093107-Alternative-C;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative G atgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac ACAACTATGTCG CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAacaactatgtcgAGATCGAGACCCGACGC chr6:117093107-Alternative-G;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative G atgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CGACTTCAGTAT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAcgacttcagtatAGATCGAGACCCGACGC chr6:117093107-Alternative-G;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Reference T atgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac AGTCGCGAAGTC CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAagtcgcgaagtcAGATCGAGACCCGACGC chr6:117093107-Reference-T;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Variant A atgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac AACGATCGTACT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAaacgatcgtactAGATCGAGACCCGACGC chr6:117093107-Variant-A;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Reference T atgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GAAGTGCGAACG CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAgaagtgcgaacgAGATCGAGACCCGACGC chr6:117093107-Reference-T;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative G atgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac ACCTAGATGCTA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAacctagatgctaAGATCGAGACCCGACGC chr6:117093107-Alternative-G;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative G atgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GCACCACTGAGA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAgcaccactgagaAGATCGAGACCCGACGC chr6:117093107-Alternative-G;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative G atgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GATATACGTTCG CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagGcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAgatatacgttcgAGATCGAGACCCGACGC chr6:117093107-Alternative-G;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative C atgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CAAGTCTCGAAC CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAcaagtctcgaacAGATCGAGACCCGACGC chr6:117093107-Alternative-C;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Variant A atgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac AATGCCGCATTA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAaatgccgcattaAGATCGAGACCCGACGC chr6:117093107-Variant-A;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Variant A atgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac ACTAATGCTCGA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAactaatgctcgaAGATCGAGACCCGACGC chr6:117093107-Variant-A;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Reference T atgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GGCTCGTGTAGT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAggctcgtgtagtAGATCGAGACCCGACGC chr6:117093107-Reference-T;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Reference T atgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac AGTCGGCACCTA CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAagtcggcacctaAGATCGAGACCCGACGC chr6:117093107-Reference-T;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Reference T atgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GGCGAGACAACT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagTcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAggcgagacaactAGATCGAGACCCGACGC chr6:117093107-Reference-T;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative C atgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CGCGTGCTTGTT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAcgcgtgcttgttAGATCGAGACCCGACGC chr6:117093107-Alternative-C;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Alternative C atgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CGTGGTTAAGTT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagCcttgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAcgtggttaagttAGATCGAGACCCGACGC chr6:117093107-Alternative-C;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Variant A atgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac GTAACGGAACAT CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAgtaacggaacatAGATCGAGACCCGACGC chr6:117093107-Variant-A;Patient-32 chr6:117093107-TA DeNovo Patient-32 intergenic NA 0.000513 -0.21 0.66 -1.36 KPNA5 90739 Variant A atgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcac CAATTGAATCGG CGACGCGGTCTCTCTCTatgcttggatagaattttctttttctttttcttttttttttgagatggagActtgctcttgttgcccaggctggagtgcagtggcacgatctcggctcacAGAGGGAGACGGACGTCTCAATAAcaattgaatcggAGATCGAGACCCGACGC chr6:117093107-Variant-A;Patient-32 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Variant C tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CTCTCGGCAGTT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAActctcggcagttAGATCGAGACCCGACGC chr6:117221700-Variant-C;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Variant C tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta ATAGGCACCATT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAataggcaccattAGATCGAGACCCGACGC chr6:117221700-Variant-C;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Variant C tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GGCTCTAGGTAC CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAggctctaggtacAGATCGAGACCCGACGC chr6:117221700-Variant-C;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Reference G tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta ACGGTGACGTGA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAacggtgacgtgaAGATCGAGACCCGACGC chr6:117221700-Reference-G;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Reference G tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GCATCTGGCGTT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAgcatctggcgttAGATCGAGACCCGACGC chr6:117221700-Reference-G;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative T tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta ATAGCGCCACGA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAatagcgccacgaAGATCGAGACCCGACGC chr6:117221700-Alternative-T;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative A tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GACATTCAGTGT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAgacattcagtgtAGATCGAGACCCGACGC chr6:117221700-Alternative-A;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative A tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CTAGGTAGCGCA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAActaggtagcgcaAGATCGAGACCCGACGC chr6:117221700-Alternative-A;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Reference G tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CGTACGTGGTTA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAcgtacgtggttaAGATCGAGACCCGACGC chr6:117221700-Reference-G;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative A tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GGTAGGTTCTAA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAggtaggttctaaAGATCGAGACCCGACGC chr6:117221700-Alternative-A;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Reference G tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CGGTCGTCAGTT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAcggtcgtcagttAGATCGAGACCCGACGC chr6:117221700-Reference-G;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative A tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta AGTCAAGATCGG CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAagtcaagatcggAGATCGAGACCCGACGC chr6:117221700-Alternative-A;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative T tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GTTGGAGCAGGT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAgttggagcaggtAGATCGAGACCCGACGC chr6:117221700-Alternative-T;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Variant C tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CAGCTATTGAAC CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAcagctattgaacAGATCGAGACCCGACGC chr6:117221700-Variant-C;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative A tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CTGGTAGACTAT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtAagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAActggtagactatAGATCGAGACCCGACGC chr6:117221700-Alternative-A;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative T tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta CTGAGATGGTGG CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAActgagatggtggAGATCGAGACCCGACGC chr6:117221700-Alternative-T;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative T tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GCAGCGCATTGT CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAgcagcgcattgtAGATCGAGACCCGACGC chr6:117221700-Alternative-T;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Alternative T tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta GTAGTAAGTCGA CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtTagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAgtagtaagtcgaAGATCGAGACCCGACGC chr6:117221700-Alternative-T;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Variant C tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta ATAGCCTGCGAC CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtCagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAatagcctgcgacAGATCGAGACCCGACGC chr6:117221700-Variant-C;Patient-57 chr6:117221700-GC DeNovo Patient-57 intronic RFX6 NA 4.95e-05 -0.39 0.19 -0.37 RFX6 23323 Reference G tcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatcta ATACAACGTAGG CGACGCGGTCTCTCTCTtcaggtgatctgcctacctcagccttccaaagtgttgggatgacaggtgtGagccaccgtgcccggccttgaatctatttttatttcatagtgaaatctaAGAGGGAGACGGACGTCTCAATAAatacaacgtaggAGATCGAGACCCGACGC chr6:117221700-Reference-G;Patient-57 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Variant T gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct ATTCGATGCCTA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAattcgatgcctaAGATCGAGACCCGACGC chr6:117528265-Variant-T;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Variant T gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct AATACGGCAGAT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAaatacggcagatAGATCGAGACCCGACGC chr6:117528265-Variant-T;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Variant T gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct ACGTACTCCGAA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAacgtactccgaaAGATCGAGACCCGACGC chr6:117528265-Variant-T;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Variant T gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GTTCGAGCCTTA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgttcgagccttaAGATCGAGACCCGACGC chr6:117528265-Variant-T;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Variant T gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CTTGACGCGGTT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacTgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAActtgacgcggttAGATCGAGACCCGACGC chr6:117528265-Variant-T;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative G gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct ACGACTCTCGTC CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAacgactctcgtcAGATCGAGACCCGACGC chr6:117528265-Alternative-G;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative A gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CTGCTACTGTGC CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAActgctactgtgcAGATCGAGACCCGACGC chr6:117528265-Alternative-A;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative A gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct ACCTATGTCTGT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAacctatgtctgtAGATCGAGACCCGACGC chr6:117528265-Alternative-A;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative A gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct ACTTAGACTCGA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAacttagactcgaAGATCGAGACCCGACGC chr6:117528265-Alternative-A;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Reference C gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GTTAATGGATGC CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgttaatggatgcAGATCGAGACCCGACGC chr6:117528265-Reference-C;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative A gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CTAGCGCACCAT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAActagcgcaccatAGATCGAGACCCGACGC chr6:117528265-Alternative-A;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Reference C gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GTCCGCTTCAGA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgtccgcttcagaAGATCGAGACCCGACGC chr6:117528265-Reference-C;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Reference C gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CTGAATCCTAGA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAActgaatcctagaAGATCGAGACCCGACGC chr6:117528265-Reference-C;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative A gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CAATGTTCGGCG CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacAgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAcaatgttcggcgAGATCGAGACCCGACGC chr6:117528265-Alternative-A;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Reference C gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct CAATGTTCGCAT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAcaatgttcgcatAGATCGAGACCCGACGC chr6:117528265-Reference-C;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Reference C gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct AGGCCGGTGATT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacCgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAaggccggtgattAGATCGAGACCCGACGC chr6:117528265-Reference-C;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative G gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct AGAGTACTTAGG CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAagagtacttaggAGATCGAGACCCGACGC chr6:117528265-Alternative-G;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative G gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GTACGCCTATAA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgtacgcctataaAGATCGAGACCCGACGC chr6:117528265-Alternative-G;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative G gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GATAGTAGGTGT CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgatagtaggtgtAGATCGAGACCCGACGC chr6:117528265-Alternative-G;Patient-54 chr6:117528265-CT Inherited Patient-54 intergenic 0.000191 0.000513 -0.4 0.18 -10.7 VGLL2 58455 Alternative G gttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccct GAGTATGTCGAA CGACGCGGTCTCTCTCTgttagacagttggctacagttgtgccctgtatattctgcctagcaacaacGgtctggtcttccaaagatgacagagccctgggagctgggtactgaccctAGAGGGAGACGGACGTCTCAATAAgagtatgtcgaaAGATCGAGACCCGACGC chr6:117528265-Alternative-G;Patient-54 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative T aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CTCTTAGCGGAG CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAActcttagcggagAGATCGAGACCCGACGC chr6:118199539-Alternative-T;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Reference A aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GTCATTCGTCGC CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgtcattcgtcgcAGATCGAGACCCGACGC chr6:118199539-Reference-A;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Variant G aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac AGTACCTCCGAT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAagtacctccgatAGATCGAGACCCGACGC chr6:118199539-Variant-G;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Variant G aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac ACCGGTCAATGT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAaccggtcaatgtAGATCGAGACCCGACGC chr6:118199539-Variant-G;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Variant G aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CTGTTAGTGAAC CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAActgttagtgaacAGATCGAGACCCGACGC chr6:118199539-Variant-G;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Reference A aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GTCTACGAATCA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgtctacgaatcaAGATCGAGACCCGACGC chr6:118199539-Reference-A;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative T aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CTAAGATACCGT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAActaagataccgtAGATCGAGACCCGACGC chr6:118199539-Alternative-T;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Reference A aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CGATATTGCCTA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAcgatattgcctaAGATCGAGACCCGACGC chr6:118199539-Reference-A;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Variant G aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac ATTGCACACGCA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAattgcacacgcaAGATCGAGACCCGACGC chr6:118199539-Variant-G;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Reference A aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CTATACTTCGAG CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAActatacttcgagAGATCGAGACCCGACGC chr6:118199539-Reference-A;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative T aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac AAGATCATGCGT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAaagatcatgcgtAGATCGAGACCCGACGC chr6:118199539-Alternative-T;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Reference A aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GATAGCCTTGAT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagAcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgatagccttgatAGATCGAGACCCGACGC chr6:118199539-Reference-A;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative C aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GCATGATCGGAG CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgcatgatcggagAGATCGAGACCCGACGC chr6:118199539-Alternative-C;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative T aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CTGGCATAAGTT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAActggcataagttAGATCGAGACCCGACGC chr6:118199539-Alternative-T;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Variant G aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GATCGCAAGTTA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagGcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgatcgcaagttaAGATCGAGACCCGACGC chr6:118199539-Variant-G;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative T aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac AGGTTAGTAGGT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagTcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAaggttagtaggtAGATCGAGACCCGACGC chr6:118199539-Alternative-T;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative C aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CGGACATTCGCT CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAcggacattcgctAGATCGAGACCCGACGC chr6:118199539-Alternative-C;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative C aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac ACCGCTTCGTGA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAaccgcttcgtgaAGATCGAGACCCGACGC chr6:118199539-Alternative-C;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative C aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac GCAACGGCATGA CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAgcaacggcatgaAGATCGAGACCCGACGC chr6:118199539-Alternative-C;Patient-49 chr6:118199539-AG DeNovo Patient-49 intergenic NA 0.000513 0.01 2.74 -1.51 SLC35F1 29149 Alternative C aagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgac CATCTCAACAAG CGACGCGGTCTCTCTCTaagtaatcaaacattgtaagtttatagtttttgctgagacactagtaaagCcaaaacaaacaaataagcaaacaaaataatatgagtataatatgctgacAGAGGGAGACGGACGTCTCAATAAcatctcaacaagAGATCGAGACCCGACGC chr6:118199539-Alternative-C;Patient-49 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Reference G ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GGTATCAGCACG CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAggtatcagcacgAGATCGAGACCCGACGC chr6:119067790-Reference-G;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Reference G ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GGCGGTTGGATA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAggcggttggataAGATCGAGACCCGACGC chr6:119067790-Reference-G;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Reference G ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GGTAGAACGAAC CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAggtagaacgaacAGATCGAGACCCGACGC chr6:119067790-Reference-G;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Reference G ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ACATGCTACCTT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAacatgctaccttAGATCGAGACCCGACGC chr6:119067790-Reference-G;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Reference G ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GCGTTGTAAGAA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctGctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAgcgttgtaagaaAGATCGAGACCCGACGC chr6:119067790-Reference-G;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative T ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt CGTCCGCTGTTA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAcgtccgctgttaAGATCGAGACCCGACGC chr6:119067790-Alternative-T;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative T ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt AAGGAGTAGCTA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAaaggagtagctaAGATCGAGACCCGACGC chr6:119067790-Alternative-T;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative C ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt CTTAATGCGTCA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAActtaatgcgtcaAGATCGAGACCCGACGC chr6:119067790-Alternative-C;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative C ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt AGACCGACGCTT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAagaccgacgcttAGATCGAGACCCGACGC chr6:119067790-Alternative-C;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Variant A ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ATAGCTACGGTT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAatagctacggttAGATCGAGACCCGACGC chr6:119067790-Variant-A;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative T ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GAGTACGTGTGG CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAgagtacgtgtggAGATCGAGACCCGACGC chr6:119067790-Alternative-T;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Variant A ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ACCAATAAGCGA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAaccaataagcgaAGATCGAGACCCGACGC chr6:119067790-Variant-A;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative C ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt AGTGTTCACGAT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAagtgttcacgatAGATCGAGACCCGACGC chr6:119067790-Alternative-C;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative C ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GAGTCTCTTCGC CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAgagtctcttcgcAGATCGAGACCCGACGC chr6:119067790-Alternative-C;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Variant A ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GGCTCAAGTATT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAggctcaagtattAGATCGAGACCCGACGC chr6:119067790-Variant-A;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative T ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ATAGACACAGCA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAatagacacagcaAGATCGAGACCCGACGC chr6:119067790-Alternative-T;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative T ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt GATTGGCCGTGT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctTctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAgattggccgtgtAGATCGAGACCCGACGC chr6:119067790-Alternative-T;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Variant A ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ATTCCTGGCTTA CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAattcctggcttaAGATCGAGACCCGACGC chr6:119067790-Variant-A;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Alternative C ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ACGTTCTGTGCG CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctCctagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAacgttctgtgcgAGATCGAGACCCGACGC chr6:119067790-Alternative-C;Patient-80 chr6:119067790-GA DeNovo Patient-80 intergenic NA 3.84e-05 -0.11 1.27 -2.74 CEP85L 36551 Variant A ctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgt ACAACAGCGTGT CGACGCGGTCTCTCTCTctcttgggtctagcaggttaggctgtttcctggtgcatacctttgcctctActagcctccctggcagaaactctggatgggtgcaaaaacccaagcccgtAGAGGGAGACGGACGTCTCAATAAacaacagcgtgtAGATCGAGACCCGACGC chr6:119067790-Variant-A;Patient-80 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Reference C gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaa AAGCGTCGCGTT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAaagcgtcgcgttAGATCGAGACCCGACGC chr6:119625883-Reference-C;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative A gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaa GCGAACTTCGTC CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAgcgaacttcgtcAGATCGAGACCCGACGC chr6:119625883-Alternative-A;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative G gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CGTAGCGTATCG CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcgtagcgtatcgAGATCGAGACCCGACGC chr6:119625883-Alternative-G;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative G gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaa AACACCGACCAT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAaacaccgaccatAGATCGAGACCCGACGC chr6:119625883-Alternative-G;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Reference C gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaa GCAGTTAGCGCT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAgcagttagcgctAGATCGAGACCCGACGC chr6:119625883-Reference-C;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Variant T gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaa ATCGAACATCGT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAatcgaacatcgtAGATCGAGACCCGACGC chr6:119625883-Variant-T;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Variant T gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CACTGAACGGAG CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcactgaacggagAGATCGAGACCCGACGC chr6:119625883-Variant-T;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Variant T gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CGTAGACGAACC CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcgtagacgaaccAGATCGAGACCCGACGC chr6:119625883-Variant-T;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Reference C gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaa AGGTTAGCTTGT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAaggttagcttgtAGATCGAGACCCGACGC chr6:119625883-Reference-C;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Variant T gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CGTTAGGCGTCT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcgttaggcgtctAGATCGAGACCCGACGC chr6:119625883-Variant-T;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Variant T gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CTCACCGCGAAT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaTggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAActcaccgcgaatAGATCGAGACCCGACGC chr6:119625883-Variant-T;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Reference C gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CGCTTAGTCAAT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcgcttagtcaatAGATCGAGACCCGACGC chr6:119625883-Reference-C;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Reference C gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaa GACCTCCTGAAC CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaCggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAgacctcctgaacAGATCGAGACCCGACGC chr6:119625883-Reference-C;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative G gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaa ATACTTCCGACT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAatacttccgactAGATCGAGACCCGACGC chr6:119625883-Alternative-G;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative A gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaa AGTACGTCCTGG CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAagtacgtcctggAGATCGAGACCCGACGC chr6:119625883-Alternative-A;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative A gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaa AGCGTAGTAAGT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAagcgtagtaagtAGATCGAGACCCGACGC chr6:119625883-Alternative-A;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative A gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaa ATTGGCGCACCT CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAattggcgcacctAGATCGAGACCCGACGC chr6:119625883-Alternative-A;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative G gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaa GGCGCGTAAGAA CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAggcgcgtaagaaAGATCGAGACCCGACGC chr6:119625883-Alternative-G;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative A gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaa ATACCAACCGAA CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaAggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAataccaaccgaaAGATCGAGACCCGACGC chr6:119625883-Alternative-A;Patient-21 chr6:119625883-CT DeNovo Patient-21 intronic MAN1A1 NA 4.95e-05 -0.49 0.1 -3.87 MAN1A1 45047 Alternative G gctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaa CGCGACTATATA CGACGCGGTCTCTCTCTgctggtgagaaacaaccatgagaaggaagcagacctgaagagctccccaaGggctaataactgggaaaagattcataatgcctaatactttctccaaaaaAGAGGGAGACGGACGTCTCAATAAcgcgactatataAGATCGAGACCCGACGC chr6:119625883-Alternative-G;Patient-21 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Reference T agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GCGTTGACGTTC CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAgcgttgacgttcAGATCGAGACCCGACGC chr6:12087485-Reference-T;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Variant A agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CAGTCGACGAGA CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAcagtcgacgagaAGATCGAGACCCGACGC chr6:12087485-Variant-A;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Variant A agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GTTACACACGGT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAgttacacacggtAGATCGAGACCCGACGC chr6:12087485-Variant-A;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Variant A agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GGATAGCAAGCA CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAggatagcaagcaAGATCGAGACCCGACGC chr6:12087485-Variant-A;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Reference T agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc ATAGACGCCGCT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAatagacgccgctAGATCGAGACCCGACGC chr6:12087485-Reference-T;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Variant A agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc ATAGCGGACGAC CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAatagcggacgacAGATCGAGACCCGACGC chr6:12087485-Variant-A;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Reference T agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CTCGTTGTAGTT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAActcgttgtagttAGATCGAGACCCGACGC chr6:12087485-Reference-T;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Reference T agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc AGGACGAAGGAC CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAaggacgaaggacAGATCGAGACCCGACGC chr6:12087485-Reference-T;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Reference T agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc AGCTGCGATATC CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaTgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAagctgcgatatcAGATCGAGACCCGACGC chr6:12087485-Reference-T;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Variant A agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CATTGGACGTAT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaAgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAcattggacgtatAGATCGAGACCCGACGC chr6:12087485-Variant-A;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative G agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CGAGCAAGCCAA CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAcgagcaagccaaAGATCGAGACCCGACGC chr6:12087485-Alternative-G;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative C agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc AACCGTATCGAT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAaaccgtatcgatAGATCGAGACCCGACGC chr6:12087485-Alternative-C;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative C agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc AACAACGCAACC CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAaacaacgcaaccAGATCGAGACCCGACGC chr6:12087485-Alternative-C;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative G agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CATGCGGCTGAT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAcatgcggctgatAGATCGAGACCCGACGC chr6:12087485-Alternative-G;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative C agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GTTGGAATTCGT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAgttggaattcgtAGATCGAGACCCGACGC chr6:12087485-Alternative-C;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative G agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GCCGTATTGTGG CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAgccgtattgtggAGATCGAGACCCGACGC chr6:12087485-Alternative-G;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative C agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc CGAATAGGCTGA CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAcgaataggctgaAGATCGAGACCCGACGC chr6:12087485-Alternative-C;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative C agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc GGATGTCCTAAT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaCgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAggatgtcctaatAGATCGAGACCCGACGC chr6:12087485-Alternative-C;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative G agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc ACTAAGGATGGT CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAactaaggatggtAGATCGAGACCCGACGC chr6:12087485-Alternative-G;Patient-27 chr6:12087485-TA DeNovo Patient-27 intronic HIVEP1 NA 4.95e-05 1.08 13.75 2.93 HIVEP1 74760 Alternative G agtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagc ATAGCCTTGTCA CGACGCGGTCTCTCTCTagtattttgtaagcagatataaacaagttatttttgtaagagttttgttaGgttgaagtgcaaacagaaagtggccaaacttcaattacttaacaacagcAGAGGGAGACGGACGTCTCAATAAatagccttgtcaAGATCGAGACCCGACGC chr6:12087485-Alternative-G;Patient-27 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Reference A tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GGAACAACATCA CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAggaacaacatcaAGATCGAGACCCGACGC chr6:121682772-Reference-A;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative C tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc ACACCACCGAAC CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAacaccaccgaacAGATCGAGACCCGACGC chr6:121682772-Alternative-C;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative C tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc CATTCTCGCGGT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAcattctcgcggtAGATCGAGACCCGACGC chr6:121682772-Alternative-C;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative C tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GGAGATCGACAT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAggagatcgacatAGATCGAGACCCGACGC chr6:121682772-Alternative-C;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Reference A tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GGACAGATGCGT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAggacagatgcgtAGATCGAGACCCGACGC chr6:121682772-Reference-A;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Reference A tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GCCTTATGGTTA CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAgccttatggttaAGATCGAGACCCGACGC chr6:121682772-Reference-A;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Reference A tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc CGTTGACAAGGT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAcgttgacaaggtAGATCGAGACCCGACGC chr6:121682772-Reference-A;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative C tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc CGCGCTCATGAT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAcgcgctcatgatAGATCGAGACCCGACGC chr6:121682772-Alternative-C;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative C tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GCGGCATTCCTA CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacCatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAgcggcattcctaAGATCGAGACCCGACGC chr6:121682772-Alternative-C;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Variant G tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GTCGGATAGTGG CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAgtcggatagtggAGATCGAGACCCGACGC chr6:121682772-Variant-G;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative T tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GTAGCGGACGTT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAgtagcggacgttAGATCGAGACCCGACGC chr6:121682772-Alternative-T;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative T tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GTTCATCGCGCA CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAgttcatcgcgcaAGATCGAGACCCGACGC chr6:121682772-Alternative-T;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative T tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc AGACGTTACCAT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAagacgttaccatAGATCGAGACCCGACGC chr6:121682772-Alternative-T;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Reference A tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc ACGCGATTACCT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacAatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAacgcgattacctAGATCGAGACCCGACGC chr6:121682772-Reference-A;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Variant G tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc ATTGGTCCGAAG CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAattggtccgaagAGATCGAGACCCGACGC chr6:121682772-Variant-G;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative T tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GGTTCGGAATAA CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAggttcggaataaAGATCGAGACCCGACGC chr6:121682772-Alternative-T;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Alternative T tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc CTCGCAAGAATT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacTatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAActcgcaagaattAGATCGAGACCCGACGC chr6:121682772-Alternative-T;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Variant G tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc ATCCTAGTGCCG CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAatcctagtgccgAGATCGAGACCCGACGC chr6:121682772-Variant-G;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Variant G tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc CATTACCTGCAT CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAcattacctgcatAGATCGAGACCCGACGC chr6:121682772-Variant-G;Patient-61 chr6:121682772-AG Inherited Patient-61 intergenic 0.00035 0.00154 0.19 5.68 0.84 TBC1D32 27127 Variant G tcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctc GGTGTTATTACG CGACGCGGTCTCTCTCTtcaaatctaaagatatttcattattaataacaaaagaaatcaattttcacGatataaattttaaaacaatcctattctcaatgatacaaataatgtgctcAGAGGGAGACGGACGTCTCAATAAggtgttattacgAGATCGAGACCCGACGC chr6:121682772-Variant-G;Patient-61 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Variant C agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AAGATGAGTAGG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAaagatgagtaggAGATCGAGACCCGACGC chr6:121729178-Variant-C;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative A agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AGATCCGTTGTC CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAagatccgttgtcAGATCGAGACCCGACGC chr6:121729178-Alternative-A;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative A agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CTCAAGTAGTCA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAActcaagtagtcaAGATCGAGACCCGACGC chr6:121729178-Alternative-A;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative G agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ACCAACGGATCA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAaccaacggatcaAGATCGAGACCCGACGC chr6:121729178-Alternative-G;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative A agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CTCGGTCTAACT CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAActcggtctaactAGATCGAGACCCGACGC chr6:121729178-Alternative-A;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative G agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CGTGGTCTACGA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAcgtggtctacgaAGATCGAGACCCGACGC chr6:121729178-Alternative-G;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative G agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CGATGTTCTCAT CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAcgatgttctcatAGATCGAGACCCGACGC chr6:121729178-Alternative-G;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Variant C agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CTGCTATCTCGG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAActgctatctcggAGATCGAGACCCGACGC chr6:121729178-Variant-C;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Variant C agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ATAGATGCGTCA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAatagatgcgtcaAGATCGAGACCCGACGC chr6:121729178-Variant-C;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Reference T agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AGTCGCCTACGA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAagtcgcctacgaAGATCGAGACCCGACGC chr6:121729178-Reference-T;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative A agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ACCGGTTGCAAG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAaccggttgcaagAGATCGAGACCCGACGC chr6:121729178-Alternative-A;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative G agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AGCTAAGGTGTT CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAagctaaggtgttAGATCGAGACCCGACGC chr6:121729178-Alternative-G;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Reference T agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattat GTATATGGTAGG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAgtatatggtaggAGATCGAGACCCGACGC chr6:121729178-Reference-T;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Reference T agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ATACGCTCCGAA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAatacgctccgaaAGATCGAGACCCGACGC chr6:121729178-Reference-T;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative A agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ATCGTGCACACG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaAgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAatcgtgcacacgAGATCGAGACCCGACGC chr6:121729178-Alternative-A;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Reference T agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattat CAACAACGGCCA CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAcaacaacggccaAGATCGAGACCCGACGC chr6:121729178-Reference-T;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Alternative G agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AGCCGCTGATAC CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaGgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAagccgctgatacAGATCGAGACCCGACGC chr6:121729178-Alternative-G;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Reference T agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AAGACTAACGAC CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaTgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAaagactaacgacAGATCGAGACCCGACGC chr6:121729178-Reference-T;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Variant C agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattat ATAATGATGCCG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAataatgatgccgAGATCGAGACCCGACGC chr6:121729178-Variant-C;Patient-25 chr6:121729178-TC DeNovo Patient-25 intergenic NA 0.000513 0.63 10.54 0.36 GJA1 27566 Variant C agtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattat AAGGTTCACGCG CGACGCGGTCTCTCTCTagtacctggaccctggtgggtagcaacaattacttatctaaatgaatgaaCgaggccagctctttattggttgtgtagggaaatatagtatgtctattatAGAGGGAGACGGACGTCTCAATAAaaggttcacgcgAGATCGAGACCCGACGC chr6:121729178-Variant-C;Patient-25 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Reference T tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CTAGTGCTCTTA CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAActagtgctcttaAGATCGAGACCCGACGC chr6:12302415-Reference-T;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Variant A tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GTTAGCTACCAT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgttagctaccatAGATCGAGACCCGACGC chr6:12302415-Variant-A;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative G tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CGGAAGGAACGT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAcggaaggaacgtAGATCGAGACCCGACGC chr6:12302415-Alternative-G;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Variant A tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CGATAGAGGCGT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAcgatagaggcgtAGATCGAGACCCGACGC chr6:12302415-Variant-A;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative G tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GTTCGAGTCTGG CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgttcgagtctggAGATCGAGACCCGACGC chr6:12302415-Alternative-G;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative G tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CTGTCGAGGTGT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAActgtcgaggtgtAGATCGAGACCCGACGC chr6:12302415-Alternative-G;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative C tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CGGCTTCTGAGT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAcggcttctgagtAGATCGAGACCCGACGC chr6:12302415-Alternative-C;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Reference T tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GGAGGTTCGGAT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAggaggttcggatAGATCGAGACCCGACGC chr6:12302415-Reference-T;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative C tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GTTGAGGACGGT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgttgaggacggtAGATCGAGACCCGACGC chr6:12302415-Alternative-C;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative C tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga ACGGCGTGACTT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAacggcgtgacttAGATCGAGACCCGACGC chr6:12302415-Alternative-C;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Variant A tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GTAGTCTCGGAC CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgtagtctcggacAGATCGAGACCCGACGC chr6:12302415-Variant-A;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Variant A tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga AAGGCTTACGTT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAaaggcttacgttAGATCGAGACCCGACGC chr6:12302415-Variant-A;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Reference T tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga ATTCCACTATCG CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAattccactatcgAGATCGAGACCCGACGC chr6:12302415-Reference-T;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative G tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GTTGGCCGAGAT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgttggccgagatAGATCGAGACCCGACGC chr6:12302415-Alternative-G;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative G tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga CTAACGTACCGA CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccGtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAActaacgtaccgaAGATCGAGACCCGACGC chr6:12302415-Alternative-G;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative C tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GGTCTTGACGCA CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAggtcttgacgcaAGATCGAGACCCGACGC chr6:12302415-Alternative-C;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Reference T tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga AATGACGCGTCA CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAaatgacgcgtcaAGATCGAGACCCGACGC chr6:12302415-Reference-T;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Reference T tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GGCGGTTGTAAG CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccTtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAggcggttgtaagAGATCGAGACCCGACGC chr6:12302415-Reference-T;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Variant A tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga AAGACGCTGCGA CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccAtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAaagacgctgcgaAGATCGAGACCCGACGC chr6:12302415-Variant-A;Patient-88 chr6:12302415-TA DeNovo Patient-88 intergenic NA 0.000512821 0.24 6.35 1.47 EDN1 11885 Alternative C tggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaaga GCCAGACGAGTT CGACGCGGTCTCTCTCTtggagatttttagcagggcaattttgtggttgccaaagtcaagatctgccCtagaccaggtcttcctagggccctagctctgcaataggaaggagcaagaAGAGGGAGACGGACGTCTCAATAAgccagacgagttAGATCGAGACCCGACGC chr6:12302415-Alternative-C;Patient-88 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Variant C aaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat AGCATACTACGC CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAagcatactacgcAGATCGAGACCCGACGC chr6:12367440-Variant-C;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Variant C aaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CGATTGAGGTCG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAcgattgaggtcgAGATCGAGACCCGACGC chr6:12367440-Variant-C;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative A aaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CATTGTGACTTC CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAcattgtgacttcAGATCGAGACCCGACGC chr6:12367440-Alternative-A;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Variant C aaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat AGTACGGCAATA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAagtacggcaataAGATCGAGACCCGACGC chr6:12367440-Variant-C;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Reference T aaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GACCTAGCGCAA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgacctagcgcaaAGATCGAGACCCGACGC chr6:12367440-Reference-T;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative A aaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CTGTTAGATAGG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAActgttagataggAGATCGAGACCCGACGC chr6:12367440-Alternative-A;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative G aaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GGTTGTGTTGAT CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAggttgtgttgatAGATCGAGACCCGACGC chr6:12367440-Alternative-G;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Variant C aaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CAAGCTATTCGA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAcaagctattcgaAGATCGAGACCCGACGC chr6:12367440-Variant-C;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative A aaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CATGCTAGATGT CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAcatgctagatgtAGATCGAGACCCGACGC chr6:12367440-Alternative-A;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Variant C aaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CTCACGATGTGG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaCgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAActcacgatgtggAGATCGAGACCCGACGC chr6:12367440-Variant-C;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative G aaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GCATCAACGCAA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgcatcaacgcaaAGATCGAGACCCGACGC chr6:12367440-Alternative-G;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative G aaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GTGCTATGACCG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgtgctatgaccgAGATCGAGACCCGACGC chr6:12367440-Alternative-G;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative G aaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GCATACTCTGAG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgcatactctgagAGATCGAGACCCGACGC chr6:12367440-Alternative-G;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Reference T aaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat CTAATCGACAGG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAActaatcgacaggAGATCGAGACCCGACGC chr6:12367440-Reference-T;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative G aaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat ACACGAGCTAGA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaGgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAacacgagctagaAGATCGAGACCCGACGC chr6:12367440-Alternative-G;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative A aaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GCGCCTATGACT CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgcgcctatgactAGATCGAGACCCGACGC chr6:12367440-Alternative-A;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Reference T aaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat GTTGTAGGCGCA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAgttgtaggcgcaAGATCGAGACCCGACGC chr6:12367440-Reference-T;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Alternative A aaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat ACTTGCTTCTGA CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaAgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAacttgcttctgaAGATCGAGACCCGACGC chr6:12367440-Alternative-A;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Reference T aaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat ATCTGTTGCGAT CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAatctgttgcgatAGATCGAGACCCGACGC chr6:12367440-Reference-T;Patient-8 chr6:12367440-TC DeNovo Patient-8 intergenic NA 0.000513 -0.46 0.12 -4.85 EDN1 76910 Reference T aaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaat AACGATTAGTGG CGACGCGGTCTCTCTCTaaattggctatacttcttcattcactcatttgacatgacaaattttgacaTgacaaattctgttctaggtgctataaatatggcaagaacaaatcaaaatAGAGGGAGACGGACGTCTCAATAAaacgattagtggAGATCGAGACCCGACGC chr6:12367440-Reference-T;Patient-8 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative T ggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaag GCGTTCGTGGTT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgcgttcgtggttAGATCGAGACCCGACGC chr6:129137455-Alternative-T;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative T ggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaag GCGGTGTAAGCA CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgcggtgtaagcaAGATCGAGACCCGACGC chr6:129137455-Alternative-T;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative T ggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaag ACGAAGTTGACA CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAacgaagttgacaAGATCGAGACCCGACGC chr6:129137455-Alternative-T;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Reference G ggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaag ACAGCTGCGCTT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAacagctgcgcttAGATCGAGACCCGACGC chr6:129137455-Reference-G;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative T ggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaag GATACTCTTCGT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgatactcttcgtAGATCGAGACCCGACGC chr6:129137455-Alternative-T;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Reference G ggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaag ATAATGTGGACG CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAataatgtggacgAGATCGAGACCCGACGC chr6:129137455-Reference-G;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative T ggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaag GACAGTAACGCG CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcTatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgacagtaacgcgAGATCGAGACCCGACGC chr6:129137455-Alternative-T;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative C ggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaag ACTGCGAGTGGT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAactgcgagtggtAGATCGAGACCCGACGC chr6:129137455-Alternative-C;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Reference G ggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaag AGGTGACTACTT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAaggtgactacttAGATCGAGACCCGACGC chr6:129137455-Reference-G;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Variant A ggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaag ACCTGACCATAA CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAacctgaccataaAGATCGAGACCCGACGC chr6:129137455-Variant-A;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Reference G ggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaag ACGAGCAGGATT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAacgagcaggattAGATCGAGACCCGACGC chr6:129137455-Reference-G;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Reference G ggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaag CGTCAGTATAAG CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcGatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAcgtcagtataagAGATCGAGACCCGACGC chr6:129137455-Reference-G;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative C ggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaag CTTGACGTGCGA CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAActtgacgtgcgaAGATCGAGACCCGACGC chr6:129137455-Alternative-C;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative C ggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaag GTCGAACATTCA CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgtcgaacattcaAGATCGAGACCCGACGC chr6:129137455-Alternative-C;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Variant A ggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaag AAGTCCGACGCT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAaagtccgacgctAGATCGAGACCCGACGC chr6:129137455-Variant-A;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Variant A ggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaag GAGTGTTGGTGG CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgagtgttggtggAGATCGAGACCCGACGC chr6:129137455-Variant-A;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative C ggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaag CGGCTAATTAAG CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAcggctaattaagAGATCGAGACCCGACGC chr6:129137455-Alternative-C;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Alternative C ggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaag GATATAGGTCCT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcCatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAgatataggtcctAGATCGAGACCCGACGC chr6:129137455-Alternative-C;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Variant A ggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaag AAGCAAGTGCTT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAaagcaagtgcttAGATCGAGACCCGACGC chr6:129137455-Variant-A;Patient-87 chr6:129137455-GA Inherited Patient-87 intergenic 0.000128 0.000513 -0.26 0.47 0.83 LAMA2 66886 Variant A ggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaag CGTCGTATCCGT CGACGCGGTCTCTCTCTggggtggacataattcaaaccacaacactacataacaacggctgactttcAatctttattttcttatttaatttttttatttataaatcaaaaattaaagAGAGGGAGACGGACGTCTCAATAAcgtcgtatccgtAGATCGAGACCCGACGC chr6:129137455-Variant-A;Patient-87 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative A tactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca ACGCAGATAACA CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAacgcagataacaAGATCGAGACCCGACGC chr6:129286328-Alternative-A;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative A tactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GATTGTAGTGCT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgattgtagtgctAGATCGAGACCCGACGC chr6:129286328-Alternative-A;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative A tactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CTTATGGATGCA CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAActtatggatgcaAGATCGAGACCCGACGC chr6:129286328-Alternative-A;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative A tactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CTACGCCACGTT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAActacgccacgttAGATCGAGACCCGACGC chr6:129286328-Alternative-A;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Variant C tactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GCGTGCGTAGAT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgcgtgcgtagatAGATCGAGACCCGACGC chr6:129286328-Variant-C;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative A tactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CGCAATCCGTAC CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaAagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcgcaatccgtacAGATCGAGACCCGACGC chr6:129286328-Alternative-A;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Reference T tactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CATGTCGAATCA CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcatgtcgaatcaAGATCGAGACCCGACGC chr6:129286328-Reference-T;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Variant C tactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CGTCAGGTAGAA CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcgtcaggtagaaAGATCGAGACCCGACGC chr6:129286328-Variant-C;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Variant C tactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GTTAATGACGCT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgttaatgacgctAGATCGAGACCCGACGC chr6:129286328-Variant-C;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Reference T tactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca AGGTGCGAGTAT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAaggtgcgagtatAGATCGAGACCCGACGC chr6:129286328-Reference-T;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Variant C tactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GATAATGGACGC CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgataatggacgcAGATCGAGACCCGACGC chr6:129286328-Variant-C;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Reference T tactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GGAACTTCTCAA CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAggaacttctcaaAGATCGAGACCCGACGC chr6:129286328-Reference-T;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Variant C tactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca ACCGTGAAGATT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaCagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAaccgtgaagattAGATCGAGACCCGACGC chr6:129286328-Variant-C;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Reference T tactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca ATTCGCAACGGC CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAattcgcaacggcAGATCGAGACCCGACGC chr6:129286328-Reference-T;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Reference T tactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CGTTGCTCGTGT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaTagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcgttgctcgtgtAGATCGAGACCCGACGC chr6:129286328-Reference-T;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative G tactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca ACGCTCTGGTTC CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAacgctctggttcAGATCGAGACCCGACGC chr6:129286328-Alternative-G;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative G tactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CACATCAGATCG CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcacatcagatcgAGATCGAGACCCGACGC chr6:129286328-Alternative-G;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative G tactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GACCTTACACCT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgaccttacacctAGATCGAGACCCGACGC chr6:129286328-Alternative-G;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative G tactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca CATCTGCGTCGT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAcatctgcgtcgtAGATCGAGACCCGACGC chr6:129286328-Alternative-G;Patient-27 chr6:129286328-TC DeNovo Patient-27 intronic LAMA2 NA 4.19e-05 0.08 3.98 2.67 LAMA2 81985 Alternative G tactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgacca GCAGCTAATTGT CGACGCGGTCTCTCTCTtactttcaaggatttattaatcttactccaaatatatatattttggtaaaGagcaattggaaagaagggtttgtatttcttagaagcactgagctgaccaAGAGGGAGACGGACGTCTCAATAAgcagctaattgtAGATCGAGACCCGACGC chr6:129286328-Alternative-G;Patient-27 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Reference G gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CATTGAAGTCGC CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcattgaagtcgcAGATCGAGACCCGACGC chr6:129957412-Reference-G;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Reference G gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CATCATTCTCGA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcatcattctcgaAGATCGAGACCCGACGC chr6:129957412-Reference-G;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative C gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CGCTTGTTAGTT CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcgcttgttagttAGATCGAGACCCGACGC chr6:129957412-Alternative-C;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Reference G gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CATCGTACGTCC CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcatcgtacgtccAGATCGAGACCCGACGC chr6:129957412-Reference-G;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative C gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CTTAGCCAATCA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAActtagccaatcaAGATCGAGACCCGACGC chr6:129957412-Alternative-C;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Reference G gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CTAAGCCAGACT CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAActaagccagactAGATCGAGACCCGACGC chr6:129957412-Reference-G;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative C gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CGCGGTATGAAC CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcgcggtatgaacAGATCGAGACCCGACGC chr6:129957412-Alternative-C;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Reference G gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GTTAGATTGTGC CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcGaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgttagattgtgcAGATCGAGACCCGACGC chr6:129957412-Reference-G;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative C gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct ACAAGCATATGG CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAacaagcatatggAGATCGAGACCCGACGC chr6:129957412-Alternative-C;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Variant A gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct ATCGGAGCAGCT CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAatcggagcagctAGATCGAGACCCGACGC chr6:129957412-Variant-A;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative T gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct AGGCGTGTCTGA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAaggcgtgtctgaAGATCGAGACCCGACGC chr6:129957412-Alternative-T;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative C gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CGTGTCTGAGCA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcCaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcgtgtctgagcaAGATCGAGACCCGACGC chr6:129957412-Alternative-C;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Variant A gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CACGAATCGTGG CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcacgaatcgtggAGATCGAGACCCGACGC chr6:129957412-Variant-A;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative T gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CGTGGAATAACA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcgtggaataacaAGATCGAGACCCGACGC chr6:129957412-Alternative-T;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative T gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GCCTGGAATGGT CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgcctggaatggtAGATCGAGACCCGACGC chr6:129957412-Alternative-T;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Variant A gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GCCGAATAGCCA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgccgaatagccaAGATCGAGACCCGACGC chr6:129957412-Variant-A;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative T gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct CGTCCGACGTAA CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAcgtccgacgtaaAGATCGAGACCCGACGC chr6:129957412-Alternative-T;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Variant A gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GTTGATTCACAG CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgttgattcacagAGATCGAGACCCGACGC chr6:129957412-Variant-A;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Alternative T gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GACGTACGGAAC CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcTaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgacgtacggaacAGATCGAGACCCGACGC chr6:129957412-Alternative-T;Patient-69 chr6:129957412-GA DeNovo Patient-69 intronic ARHGAP18 0.000127 4.95e-05 0 2.67 1.03 ARHGAP18 73957 Variant A gagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttct GAAGAGCATAAG CGACGCGGTCTCTCTCTgagcaatttaatgaccccaaaactcctgtaagatggactggacttgattcAaaattggtcatgcaaagagagtagcaatctgcagctagaagggctttctAGAGGGAGACGGACGTCTCAATAAgaagagcataagAGATCGAGACCCGACGC chr6:129957412-Variant-A;Patient-69 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Reference G tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatga AAGCGGTTACGC CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAaagcggttacgcAGATCGAGACCCGACGC chr6:129968939-Reference-G;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Variant T tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatga CTATGTTACGGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAActatgttacggtAGATCGAGACCCGACGC chr6:129968939-Variant-T;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative A tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatga ACGTTACGATAC CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAacgttacgatacAGATCGAGACCCGACGC chr6:129968939-Alternative-A;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative A tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatga GTCGAAGCAACG CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAgtcgaagcaacgAGATCGAGACCCGACGC chr6:129968939-Alternative-A;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Variant T tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatga AGATCGGCGAGA CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAagatcggcgagaAGATCGAGACCCGACGC chr6:129968939-Variant-T;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Reference G tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatga GGATGCCGATGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAggatgccgatgtAGATCGAGACCCGACGC chr6:129968939-Reference-G;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative A tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatga ACGAGAGCGACT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAacgagagcgactAGATCGAGACCCGACGC chr6:129968939-Alternative-A;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Variant T tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatga GTAGATCAGCTT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAgtagatcagcttAGATCGAGACCCGACGC chr6:129968939-Variant-T;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Reference G tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatga GGCTTACCAACG CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAggcttaccaacgAGATCGAGACCCGACGC chr6:129968939-Reference-G;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative A tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatga CGAAGTGTACTT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAcgaagtgtacttAGATCGAGACCCGACGC chr6:129968939-Alternative-A;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Variant T tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatga ATTCTACGAGCA CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAattctacgagcaAGATCGAGACCCGACGC chr6:129968939-Variant-T;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Variant T tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatga GACGCGTGGTAA CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattTcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAgacgcgtggtaaAGATCGAGACCCGACGC chr6:129968939-Variant-T;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative A tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatga CACTGTAACATC CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattAcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAcactgtaacatcAGATCGAGACCCGACGC chr6:129968939-Alternative-A;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Reference G tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatga ACTTGGTGCGGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAacttggtgcggtAGATCGAGACCCGACGC chr6:129968939-Reference-G;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative C tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatga GATCGCTTACTT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAgatcgcttacttAGATCGAGACCCGACGC chr6:129968939-Alternative-C;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative C tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatga CGTACTAAGTGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAcgtactaagtgtAGATCGAGACCCGACGC chr6:129968939-Alternative-C;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Reference G tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatga CACGTTGATAGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattGcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAcacgttgatagtAGATCGAGACCCGACGC chr6:129968939-Reference-G;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative C tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatga ACTTGACGGCGT CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAacttgacggcgtAGATCGAGACCCGACGC chr6:129968939-Alternative-C;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative C tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatga AGGACATAGCGA CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAaggacatagcgaAGATCGAGACCCGACGC chr6:129968939-Alternative-C;Patient-109 chr6:129968939-GT DeNovo Patient-109 intronic ARHGAP18 NA 3.84e-05 -0.27 0.44 -3.51 ARHGAP18 62430 Alternative C tattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatga ACGTTCATGCCA CGACGCGGTCTCTCTCTtattttagaagaagccatatgtattgaagtgtaaacattagaatgctattCcacctcagagatttaaacctatcccattattttctagatgagataatgaAGAGGGAGACGGACGTCTCAATAAacgttcatgccaAGATCGAGACCCGACGC chr6:129968939-Alternative-C;Patient-109 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Variant C tatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GTTCTACGCTAT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAgttctacgctatAGATCGAGACCCGACGC chr6:131413736-Variant-C;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Variant C tatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CATGCCAATCAT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAcatgccaatcatAGATCGAGACCCGACGC chr6:131413736-Variant-C;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Variant C tatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatg ACTGTTAGCCGG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAactgttagccggAGATCGAGACCCGACGC chr6:131413736-Variant-C;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Reference A tatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CTGCGTTACCGT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAActgcgttaccgtAGATCGAGACCCGACGC chr6:131413736-Reference-A;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Variant C tatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GTCATTCGGACG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAgtcattcggacgAGATCGAGACCCGACGC chr6:131413736-Variant-C;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Variant C tatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GTAGAAGGTTCA CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttCacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAgtagaaggttcaAGATCGAGACCCGACGC chr6:131413736-Variant-C;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Reference A tatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatg AAGCGCATCCAT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAaagcgcatccatAGATCGAGACCCGACGC chr6:131413736-Reference-A;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Reference A tatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatg ACTCGCGTAGTC CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAactcgcgtagtcAGATCGAGACCCGACGC chr6:131413736-Reference-A;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative G tatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CTGTCGCACATC CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAActgtcgcacatcAGATCGAGACCCGACGC chr6:131413736-Alternative-G;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative G tatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CTAATGCCTAAG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAActaatgcctaagAGATCGAGACCCGACGC chr6:131413736-Alternative-G;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative G tatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GGTTCGAGTCGT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAggttcgagtcgtAGATCGAGACCCGACGC chr6:131413736-Alternative-G;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative G tatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GGAACGGTATTA CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAggaacggtattaAGATCGAGACCCGACGC chr6:131413736-Alternative-G;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative G tatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CAGTTACTGGCG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttGacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAcagttactggcgAGATCGAGACCCGACGC chr6:131413736-Alternative-G;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative T tatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatg AGCTGAATGGCG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAagctgaatggcgAGATCGAGACCCGACGC chr6:131413736-Alternative-T;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative T tatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CGCATAACGTAC CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAcgcataacgtacAGATCGAGACCCGACGC chr6:131413736-Alternative-T;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative T tatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatg ACACCGTAACGA CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAacaccgtaacgaAGATCGAGACCCGACGC chr6:131413736-Alternative-T;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Reference A tatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatg CGGCGGTACTAA CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAcggcggtactaaAGATCGAGACCCGACGC chr6:131413736-Reference-A;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Reference A tatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatg AGCCACGATATC CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttAacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAagccacgatatcAGATCGAGACCCGACGC chr6:131413736-Reference-A;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative T tatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatg GCAGTCGATGAG CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAgcagtcgatgagAGATCGAGACCCGACGC chr6:131413736-Alternative-T;Patient-37 chr6:131413736-AC DeNovo Patient-37 intergenic 6.4e-05 0.000513 0.43 8.68 0.05 AKAP7 43089 Alternative T tatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatg AAGACGCAGTAT CGACGCGGTCTCTCTCTtatactactctgtctgctttggggtatgcttgaaattttataacttttttTacacaagcatttaacagctatataacataaattttaaaaagtaagaatgAGAGGGAGACGGACGTCTCAATAAaagacgcagtatAGATCGAGACCCGACGC chr6:131413736-Alternative-T;Patient-37 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Reference C taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgta GTGTCGCTTCGT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgtgtcgcttcgtAGATCGAGACCCGACGC chr6:131995260-Reference-C;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Reference C taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgta AACGTATGGTTC CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAaacgtatggttcAGATCGAGACCCGACGC chr6:131995260-Reference-C;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Reference C taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgta AGCTGACTGCGA CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAagctgactgcgaAGATCGAGACCCGACGC chr6:131995260-Reference-C;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Variant A taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgta CAAGTCGGACTT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAcaagtcggacttAGATCGAGACCCGACGC chr6:131995260-Variant-A;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Variant A taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgta GCGATATGTACG CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgcgatatgtacgAGATCGAGACCCGACGC chr6:131995260-Variant-A;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Variant A taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgta ATCTTAGGTTCG CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAatcttaggttcgAGATCGAGACCCGACGC chr6:131995260-Variant-A;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Reference C taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgta GAGCTAGCGCAT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgagctagcgcatAGATCGAGACCCGACGC chr6:131995260-Reference-C;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Reference C taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgta GCCGATTGATAA CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaCtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgccgattgataaAGATCGAGACCCGACGC chr6:131995260-Reference-C;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Variant A taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgta GTCCGGAATTGC CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgtccggaattgcAGATCGAGACCCGACGC chr6:131995260-Variant-A;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Variant A taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgta GGCGTAGTTGCA CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaAtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAggcgtagttgcaAGATCGAGACCCGACGC chr6:131995260-Variant-A;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative T taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgta ATCTAGGAGCTT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAatctaggagcttAGATCGAGACCCGACGC chr6:131995260-Alternative-T;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative T taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgta GCAGTATCAGTT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAgcagtatcagttAGATCGAGACCCGACGC chr6:131995260-Alternative-T;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative G taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgta ATCGCAAGTCGC CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAatcgcaagtcgcAGATCGAGACCCGACGC chr6:131995260-Alternative-G;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative T taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgta CAAGCGATACGC CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAcaagcgatacgcAGATCGAGACCCGACGC chr6:131995260-Alternative-T;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative T taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgta GGCTTAGTCGCA CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAggcttagtcgcaAGATCGAGACCCGACGC chr6:131995260-Alternative-T;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative G taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgta CGGCGTTGACAT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAcggcgttgacatAGATCGAGACCCGACGC chr6:131995260-Alternative-G;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative G taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgta CTCTACGCGCTT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAActctacgcgcttAGATCGAGACCCGACGC chr6:131995260-Alternative-G;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative T taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgta ATCCGAATGTCG CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaTtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAatccgaatgtcgAGATCGAGACCCGACGC chr6:131995260-Alternative-T;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative G taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgta CTGGTTGCTGAG CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAActggttgctgagAGATCGAGACCCGACGC chr6:131995260-Alternative-G;Patient-30 chr6:131995260-CA Inherited Patient-30 intronic ENPP3 NA 9.9e-05 NA NA NA ENPP3 36817 Alternative G taggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgta ATCGTAGGCTAT CGACGCGGTCTCTCTCTtaggtatgagtaatagatcgtgtgctattttaatttaaatttctattttaGtaatattttatcttacatcttttttgaaattatcattttagggcttgtaAGAGGGAGACGGACGTCTCAATAAatcgtaggctatAGATCGAGACCCGACGC chr6:131995260-Alternative-G;Patient-30 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative G gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CGCTCGCTTCTT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcgctcgcttcttAGATCGAGACCCGACGC chr6:132129064-Alternative-G;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Reference A gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GGATGTGCGGTT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAggatgtgcggttAGATCGAGACCCGACGC chr6:132129064-Reference-A;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Variant T gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GACGTCAGAATA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgacgtcagaataAGATCGAGACCCGACGC chr6:132129064-Variant-T;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Variant T gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GAGTATGCGCCA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgagtatgcgccaAGATCGAGACCCGACGC chr6:132129064-Variant-T;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative G gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CGAACCGAATAT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcgaaccgaatatAGATCGAGACCCGACGC chr6:132129064-Alternative-G;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Reference A gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CACGGTAGATAA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcacggtagataaAGATCGAGACCCGACGC chr6:132129064-Reference-A;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative G gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CACGTACGTGGT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcacgtacgtggtAGATCGAGACCCGACGC chr6:132129064-Alternative-G;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Reference A gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CTTACAGGACGA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAActtacaggacgaAGATCGAGACCCGACGC chr6:132129064-Reference-A;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative C gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GGTGGCTTGGTT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAggtggcttggttAGATCGAGACCCGACGC chr6:132129064-Alternative-C;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Reference A gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc AGAATTGTGCGA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAagaattgtgcgaAGATCGAGACCCGACGC chr6:132129064-Reference-A;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative G gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc AGCAGCAACGGT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAagcagcaacggtAGATCGAGACCCGACGC chr6:132129064-Alternative-G;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Variant T gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GAGTTACGCGTC CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgagttacgcgtcAGATCGAGACCCGACGC chr6:132129064-Variant-T;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Variant T gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc AACTATGGTCGT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAaactatggtcgtAGATCGAGACCCGACGC chr6:132129064-Variant-T;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative G gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CGGTCTAATGAG CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccGaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcggtctaatgagAGATCGAGACCCGACGC chr6:132129064-Alternative-G;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Reference A gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GACTACGCAACT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccAaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgactacgcaactAGATCGAGACCCGACGC chr6:132129064-Reference-A;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Variant T gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GCCACGTATCAT CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccTaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgccacgtatcatAGATCGAGACCCGACGC chr6:132129064-Variant-T;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative C gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc CGGACTACCAGA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAcggactaccagaAGATCGAGACCCGACGC chr6:132129064-Alternative-C;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative C gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GCCGCGTTACTA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAgccgcgttactaAGATCGAGACCCGACGC chr6:132129064-Alternative-C;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative C gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GGCAAGCTGAAC CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAggcaagctgaacAGATCGAGACCCGACGC chr6:132129064-Alternative-C;Patient-25 chr6:132129064-AT DeNovo Patient-25 intergenic 0.000384 4.19e-05 0.37 8.01 -1.77 ENPP1 91 Alternative C gttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggc GGAGTATGAGAA CGACGCGGTCTCTCTCTgttgagtcgctttgccctgactgcgagagccgggtgtagggcggggagccCaggatctgaccgcgaggggcgggcgcggcggggaggggcggggcggggcAGAGGGAGACGGACGTCTCAATAAggagtatgagaaAGATCGAGACCCGACGC chr6:132129064-Alternative-C;Patient-25 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative G ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CGATACAGTGAA CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcgatacagtgaaAGATCGAGACCCGACGC chr6:132240786-Alternative-G;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative G ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca AACGTAGTCGCG CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAaacgtagtcgcgAGATCGAGACCCGACGC chr6:132240786-Alternative-G;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative G ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GGACACCGCATT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAggacaccgcattAGATCGAGACCCGACGC chr6:132240786-Alternative-G;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Reference C ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CGCAAGCTAGCA CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcgcaagctagcaAGATCGAGACCCGACGC chr6:132240786-Reference-C;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative G ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GATGGCTACGTC CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgatggctacgtcAGATCGAGACCCGACGC chr6:132240786-Alternative-G;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative T ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CGACAGCCTACA CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcgacagcctacaAGATCGAGACCCGACGC chr6:132240786-Alternative-T;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative G ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CGCTTAATTCGC CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacGaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcgcttaattcgcAGATCGAGACCCGACGC chr6:132240786-Alternative-G;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative T ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GGCCAAGTTAAT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAggccaagttaatAGATCGAGACCCGACGC chr6:132240786-Alternative-T;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative T ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GCGAGTATCGCT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgcgagtatcgctAGATCGAGACCCGACGC chr6:132240786-Alternative-T;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative T ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CATCGCACAAGG CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcatcgcacaaggAGATCGAGACCCGACGC chr6:132240786-Alternative-T;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Variant A ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CTCGTAACAACT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAActcgtaacaactAGATCGAGACCCGACGC chr6:132240786-Variant-A;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Alternative T ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CGCAATGGACCT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacTaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcgcaatggacctAGATCGAGACCCGACGC chr6:132240786-Alternative-T;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Variant A ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CATTCATCGCAT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcattcatcgcatAGATCGAGACCCGACGC chr6:132240786-Variant-A;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Variant A ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GCGCACTTATAT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgcgcacttatatAGATCGAGACCCGACGC chr6:132240786-Variant-A;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Reference C ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GATCGGTTGTGC CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgatcggttgtgcAGATCGAGACCCGACGC chr6:132240786-Reference-C;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Variant A ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GTTCTGGTAAGG CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgttctggtaaggAGATCGAGACCCGACGC chr6:132240786-Variant-A;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Reference C ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca AGCTGTGCGGAT CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAagctgtgcggatAGATCGAGACCCGACGC chr6:132240786-Reference-C;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Variant A ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CAGCGGTTCACA CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacAaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAcagcggttcacaAGATCGAGACCCGACGC chr6:132240786-Variant-A;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Reference C ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca GACCACGATATC CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAAgaccacgatatcAGATCGAGACCCGACGC chr6:132240786-Reference-C;Patient-86 chr6:132240786-CA DeNovo Patient-86 intergenic 0.000319 0.00256 -0.17 0.89 0.22 CTGF 31726 Reference C ggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaaca CTTATAGCGGCG CGACGCGGTCTCTCTCTggaagcatcatgctacccaacttcaaactatactacaggactacagtaacCaaaacagcgtggtactggtacaaaaacagacacatagaccaatgaaacaAGAGGGAGACGGACGTCTCAATAActtatagcggcgAGATCGAGACCCGACGC chr6:132240786-Reference-C;Patient-86 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Variant T ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg ATAGCAACGGAT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAatagcaacggatAGATCGAGACCCGACGC chr6:132288036-Variant-T;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative G ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CGGTAAGCGCTA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAcggtaagcgctaAGATCGAGACCCGACGC chr6:132288036-Alternative-G;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative A ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CGCAGACTAGAA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAcgcagactagaaAGATCGAGACCCGACGC chr6:132288036-Alternative-A;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Variant T ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg GTGCGATATCAT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAgtgcgatatcatAGATCGAGACCCGACGC chr6:132288036-Variant-T;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative A ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg ATCTGGATGCAG CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAatctggatgcagAGATCGAGACCCGACGC chr6:132288036-Alternative-A;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Variant T ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg AACTTCACCAAG CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAaacttcaccaagAGATCGAGACCCGACGC chr6:132288036-Variant-T;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Variant T ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CGCCTGTGGATA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAcgcctgtggataAGATCGAGACCCGACGC chr6:132288036-Variant-T;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative A ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg GCGATGCTTGCT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAgcgatgcttgctAGATCGAGACCCGACGC chr6:132288036-Alternative-A;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Variant T ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg ACGCCATTGTTC CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcTgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAacgccattgttcAGATCGAGACCCGACGC chr6:132288036-Variant-T;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative G ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg GGCCAATAGTTA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAggccaatagttaAGATCGAGACCCGACGC chr6:132288036-Alternative-G;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative A ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CTCTGACGGTTC CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAActctgacggttcAGATCGAGACCCGACGC chr6:132288036-Alternative-A;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative G ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg AGCAAGCGTAGT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAagcaagcgtagtAGATCGAGACCCGACGC chr6:132288036-Alternative-G;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative G ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CGGCCAATTCCA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAcggccaattccaAGATCGAGACCCGACGC chr6:132288036-Alternative-G;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative A ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CTGAACCTCATT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcAgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAActgaacctcattAGATCGAGACCCGACGC chr6:132288036-Alternative-A;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Reference C ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg CGTTGGTTGATA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAcgttggttgataAGATCGAGACCCGACGC chr6:132288036-Reference-C;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Reference C ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg ACCTCCGAATAA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAacctccgaataaAGATCGAGACCCGACGC chr6:132288036-Reference-C;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Reference C ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg AACTAGGCATTC CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAaactaggcattcAGATCGAGACCCGACGC chr6:132288036-Reference-C;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Reference C ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg GTATTGTTCGTC CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAgtattgttcgtcAGATCGAGACCCGACGC chr6:132288036-Reference-C;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Alternative G ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg GATGGTATAGGT CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcGgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAgatggtataggtAGATCGAGACCCGACGC chr6:132288036-Alternative-G;Patient-49 chr6:132288036-CT DeNovo Patient-49 intergenic 3.2e-05 0.000513 -0.09 1.52 -0.2 CTGF 15522 Reference C ggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatg ATTACCGCAACA CGACGCGGTCTCTCTCTggcatttcagaccttagtagtggggacaacagtcctgactttggggatgcCgtggcacatggaagagagtaaatgggccattttgacctgggtcaacatgAGAGGGAGACGGACGTCTCAATAAattaccgcaacaAGATCGAGACCCGACGC chr6:132288036-Reference-C;Patient-49 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Variant A ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctaca CGATCGATGTAA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAcgatcgatgtaaAGATCGAGACCCGACGC chr6:132297022-Variant-A;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Variant A ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctaca GGAGAATCGATT CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAggagaatcgattAGATCGAGACCCGACGC chr6:132297022-Variant-A;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative C ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctaca GAGCATAACAGG CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAgagcataacaggAGATCGAGACCCGACGC chr6:132297022-Alternative-C;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative G ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ACACTTACTACG CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAacacttactacgAGATCGAGACCCGACGC chr6:132297022-Alternative-G;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative C ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ATTACGCTCGTT CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAattacgctcgttAGATCGAGACCCGACGC chr6:132297022-Alternative-C;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Variant A ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctaca GTAGTAATCGAC CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAgtagtaatcgacAGATCGAGACCCGACGC chr6:132297022-Variant-A;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative C ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ATTACGCGAGAA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAattacgcgagaaAGATCGAGACCCGACGC chr6:132297022-Alternative-C;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Variant A ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctaca AGCACCATCGAC CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAagcaccatcgacAGATCGAGACCCGACGC chr6:132297022-Variant-A;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative G ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ATACCAAGCCGG CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAataccaagccggAGATCGAGACCCGACGC chr6:132297022-Alternative-G;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative G ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctaca GCAACCTAGATT CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAgcaacctagattAGATCGAGACCCGACGC chr6:132297022-Alternative-G;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Variant A ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctaca CAGAGATCAGCA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccAggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAcagagatcagcaAGATCGAGACCCGACGC chr6:132297022-Variant-A;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative G ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ATACGATTCGCA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAatacgattcgcaAGATCGAGACCCGACGC chr6:132297022-Alternative-G;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative C ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctaca AGCAGTGTCTTA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAagcagtgtcttaAGATCGAGACCCGACGC chr6:132297022-Alternative-C;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative G ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctaca AAGTGAGAAGCA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccGggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAaagtgagaagcaAGATCGAGACCCGACGC chr6:132297022-Alternative-G;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Alternative C ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ACGCTGTTCATT CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccCggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAacgctgttcattAGATCGAGACCCGACGC chr6:132297022-Alternative-C;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Reference T ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ACGCTCAACACG CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAacgctcaacacgAGATCGAGACCCGACGC chr6:132297022-Reference-T;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Reference T ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctaca CAGGTAGTCGTC CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAcaggtagtcgtcAGATCGAGACCCGACGC chr6:132297022-Reference-T;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Reference T ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctaca ACGCGATAATGT CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAacgcgataatgtAGATCGAGACCCGACGC chr6:132297022-Reference-T;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Reference T ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctaca AAGATTCGCAGA CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAaagattcgcagaAGATCGAGACCCGACGC chr6:132297022-Reference-T;Patient-65 chr6:132297022-TA Inherited Patient-65 intergenic 6.4e-05 0.000512821 0.48 9.17 3.18 CTGF 24508 Reference T ttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctaca CGATTACGTCGG CGACGCGGTCTCTCTCTttttaccttacaacctccccctaaatccttgatggtaaatatatgtccccTggacatcaataacacatgaatctaattgcaaacaactgattaccctacaAGAGGGAGACGGACGTCTCAATAAcgattacgtcggAGATCGAGACCCGACGC chr6:132297022-Reference-T;Patient-65 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative T ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata GAGCTCTTCGAG CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAgagctcttcgagAGATCGAGACCCGACGC chr6:132736770-Alternative-T;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative T ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata CAGGCTCGTCTA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAcaggctcgtctaAGATCGAGACCCGACGC chr6:132736770-Alternative-T;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative T ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata ATTCTAGGATGC CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAattctaggatgcAGATCGAGACCCGACGC chr6:132736770-Alternative-T;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative A ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata ACACAGCTAGCT CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAacacagctagctAGATCGAGACCCGACGC chr6:132736770-Alternative-A;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Reference G ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AAGTACGGACTT CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAaagtacggacttAGATCGAGACCCGACGC chr6:132736770-Reference-G;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative T ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AATAACAGCGCA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAaataacagcgcaAGATCGAGACCCGACGC chr6:132736770-Alternative-T;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Reference G ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata GGCGTCAACGAA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAggcgtcaacgaaAGATCGAGACCCGACGC chr6:132736770-Reference-G;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Reference G ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata CGCTAGAACGCT CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAcgctagaacgctAGATCGAGACCCGACGC chr6:132736770-Reference-G;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative A ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata GAGCATACGTAA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAgagcatacgtaaAGATCGAGACCCGACGC chr6:132736770-Alternative-A;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Reference G ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AGGCGCGTGTTA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAaggcgcgtgttaAGATCGAGACCCGACGC chr6:132736770-Reference-G;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative T ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata GGAGTCCGAATC CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagTaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAggagtccgaatcAGATCGAGACCCGACGC chr6:132736770-Alternative-T;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Reference G ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AATCGTACCGGC CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagGaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAaatcgtaccggcAGATCGAGACCCGACGC chr6:132736770-Reference-G;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Variant C ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata CTGAGTCCGACT CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAActgagtccgactAGATCGAGACCCGACGC chr6:132736770-Variant-C;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative A ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata CGGTAACAACGG CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAcggtaacaacggAGATCGAGACCCGACGC chr6:132736770-Alternative-A;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Variant C ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AGTCATATCGAG CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAagtcatatcgagAGATCGAGACCCGACGC chr6:132736770-Variant-C;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Variant C ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata AACACAGATGCA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAaacacagatgcaAGATCGAGACCCGACGC chr6:132736770-Variant-C;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Variant C ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata ATACCGCCGTGA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAataccgccgtgaAGATCGAGACCCGACGC chr6:132736770-Variant-C;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Variant C ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata ACGTCAATGTCA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagCaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAacgtcaatgtcaAGATCGAGACCCGACGC chr6:132736770-Variant-C;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative A ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata CGTAATACAACC CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAcgtaatacaaccAGATCGAGACCCGACGC chr6:132736770-Alternative-A;Patient-105 chr6:132736770-GC DeNovo Patient-105 intergenic 0.00051 0.001895735 -0.35 0.26 -5.51 STX7 97566 Alternative A ccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctata GACTAATAGCGA CGACGCGGTCTCTCTCTccctcctgaaacccaccaatgtaagtttttggagctctaaacccataaagAaaaagagaatacaaggaggaaaagagcagcaaactttttgggagctataAGAGGGAGACGGACGTCTCAATAAgactaatagcgaAGATCGAGACCCGACGC chr6:132736770-Alternative-A;Patient-105 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Reference G tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CGGCAATCCTGT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcggcaatcctgtAGATCGAGACCCGACGC chr6:13511540-Reference-G;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Reference G tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac ATCGAGCCTAAG CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAatcgagcctaagAGATCGAGACCCGACGC chr6:13511540-Reference-G;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Variant A tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CGTTGCATACGG CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcgttgcatacggAGATCGAGACCCGACGC chr6:13511540-Variant-A;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Variant A tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CGACTTATGAGT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcgacttatgagtAGATCGAGACCCGACGC chr6:13511540-Variant-A;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Variant A tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GTTAGATGACCA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAgttagatgaccaAGATCGAGACCCGACGC chr6:13511540-Variant-A;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Reference G tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CTATGCCTAGCG CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAActatgcctagcgAGATCGAGACCCGACGC chr6:13511540-Reference-G;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative T tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GACGCCGATTCA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAgacgccgattcaAGATCGAGACCCGACGC chr6:13511540-Alternative-T;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Reference G tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GGTGGCGCAATA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAggtggcgcaataAGATCGAGACCCGACGC chr6:13511540-Reference-G;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Reference G tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GAGATGTGGTTA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgGgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAgagatgtggttaAGATCGAGACCCGACGC chr6:13511540-Reference-G;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative T tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac AGACCTGTAACG CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAagacctgtaacgAGATCGAGACCCGACGC chr6:13511540-Alternative-T;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative T tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CAATATCGGACA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcaatatcggacaAGATCGAGACCCGACGC chr6:13511540-Alternative-T;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative C tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac AGCTTAGTCGGC CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAagcttagtcggcAGATCGAGACCCGACGC chr6:13511540-Alternative-C;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Variant A tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac AAGCGGTCCAAC CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAaagcggtccaacAGATCGAGACCCGACGC chr6:13511540-Variant-A;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative T tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac ATTCCACCGATT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAattccaccgattAGATCGAGACCCGACGC chr6:13511540-Alternative-T;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative C tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GGAGATATGACT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAggagatatgactAGATCGAGACCCGACGC chr6:13511540-Alternative-C;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative C tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac ACTGGCGCGTAA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAactggcgcgtaaAGATCGAGACCCGACGC chr6:13511540-Alternative-C;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative T tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac GCCGTGAAGTGT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgTgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAgccgtgaagtgtAGATCGAGACCCGACGC chr6:13511540-Alternative-T;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Variant A tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CACGAACTTCTT CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgAgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcacgaacttcttAGATCGAGACCCGACGC chr6:13511540-Variant-A;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative C tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac CAGCTATTACGA CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAcagctattacgaAGATCGAGACCCGACGC chr6:13511540-Alternative-C;Patient-93 chr6:13511540-GA Inherited Patient-93 intergenic NA 0.000512821 0.1 4.3 0 GFOD1 23670 Alternative C tccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaac ATTAAGGCCGCG CGACGCGGTCTCTCTCTtccgcagccgctggcccaggtgctaaacccctcactgcccggggcttgcgCgcgggccgctccaagtgcggggcccgctgagcccacgcccacccggaacAGAGGGAGACGGACGTCTCAATAAattaaggccgcgAGATCGAGACCCGACGC chr6:13511540-Alternative-C;Patient-93 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Variant G cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CTAGCCGGTCTA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAActagccggtctaAGATCGAGACCCGACGC chr6:135410494-Variant-G;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Variant G cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc AAGGACGGCGAA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAaaggacggcgaaAGATCGAGACCCGACGC chr6:135410494-Variant-G;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Variant G cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc AGTAAGCGAGCG CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAagtaagcgagcgAGATCGAGACCCGACGC chr6:135410494-Variant-G;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Variant G cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc GAGTATACACAG CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAgagtatacacagAGATCGAGACCCGACGC chr6:135410494-Variant-G;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Variant G cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CAACGGTAACGG CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaGgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAcaacggtaacggAGATCGAGACCCGACGC chr6:135410494-Variant-G;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative C cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CAACAGACGAAT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAcaacagacgaatAGATCGAGACCCGACGC chr6:135410494-Alternative-C;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative C cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CGCGTAGACAGT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAcgcgtagacagtAGATCGAGACCCGACGC chr6:135410494-Alternative-C;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative C cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CTTGCTACATCA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAActtgctacatcaAGATCGAGACCCGACGC chr6:135410494-Alternative-C;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative C cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc ATCGCACGAGCT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAatcgcacgagctAGATCGAGACCCGACGC chr6:135410494-Alternative-C;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative C cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc ATACATGCGACG CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaCgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAatacatgcgacgAGATCGAGACCCGACGC chr6:135410494-Alternative-C;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative A cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc GCGTAACCGTGA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAgcgtaaccgtgaAGATCGAGACCCGACGC chr6:135410494-Alternative-A;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative A cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CGTAGTAGGATA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAcgtagtaggataAGATCGAGACCCGACGC chr6:135410494-Alternative-A;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative A cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc ACAACGATGTGA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAacaacgatgtgaAGATCGAGACCCGACGC chr6:135410494-Alternative-A;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative A cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc GTCTACACGCCA CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAgtctacacgccaAGATCGAGACCCGACGC chr6:135410494-Alternative-A;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Alternative A cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc GAAGTGCGACCT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaAgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAgaagtgcgacctAGATCGAGACCCGACGC chr6:135410494-Alternative-A;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Reference T cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc ATATAGCCTGAC CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAatatagcctgacAGATCGAGACCCGACGC chr6:135410494-Reference-T;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Reference T cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CTAGCTCGACAT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAActagctcgacatAGATCGAGACCCGACGC chr6:135410494-Reference-T;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Reference T cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CGGAGAGTAGGT CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAcggagagtaggtAGATCGAGACCCGACGC chr6:135410494-Reference-T;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Reference T cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc GACCGTCAACAC CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAAgaccgtcaacacAGATCGAGACCCGACGC chr6:135410494-Reference-T;Patient-30 chr6:135410494-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA MYB 91958 Reference T cttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactc CTCGTAGCGTAC CGACGCGGTCTCTCTCTcttgacctgaatgggtagcaaaaacatcaccctaaaaagtcaccacaaaaTgaagacctgaaggcttcaaataggaatttttttgccctagggtgtactcAGAGGGAGACGGACGTCTCAATAActcgtagcgtacAGATCGAGACCCGACGC chr6:135410494-Reference-T;Patient-30 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Reference A tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa CGACTTCATTCA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAcgacttcattcaAGATCGAGACCCGACGC chr6:135753766-Reference-A;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Reference A tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GCGATGCTAACA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgcgatgctaacaAGATCGAGACCCGACGC chr6:135753766-Reference-A;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Reference A tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa AGATGTGCCGTC CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAagatgtgccgtcAGATCGAGACCCGACGC chr6:135753766-Reference-A;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Reference A tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GTCTATAGGCCG CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgtctataggccgAGATCGAGACCCGACGC chr6:135753766-Reference-A;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Variant G tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GTCATAATGCGA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgtcataatgcgaAGATCGAGACCCGACGC chr6:135753766-Variant-G;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative C tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GACAAGCGACAC CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgacaagcgacacAGATCGAGACCCGACGC chr6:135753766-Alternative-C;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative C tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa AGACTAACCGGC CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAagactaaccggcAGATCGAGACCCGACGC chr6:135753766-Alternative-C;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative T tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa CGTGAATACCAT CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAcgtgaataccatAGATCGAGACCCGACGC chr6:135753766-Alternative-T;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative T tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa AGGAATGGCATT CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAaggaatggcattAGATCGAGACCCGACGC chr6:135753766-Alternative-T;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative C tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GCGATAAGATGG CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgcgataagatggAGATCGAGACCCGACGC chr6:135753766-Alternative-C;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Reference A tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa ACTTGTTCGCTT CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacAggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAacttgttcgcttAGATCGAGACCCGACGC chr6:135753766-Reference-A;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative C tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa CATTGTGCTGAA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAcattgtgctgaaAGATCGAGACCCGACGC chr6:135753766-Alternative-C;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative C tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa AATACCGGTGAA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacCggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAaataccggtgaaAGATCGAGACCCGACGC chr6:135753766-Alternative-C;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Variant G tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa AACGCTCGAAGG CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAaacgctcgaaggAGATCGAGACCCGACGC chr6:135753766-Variant-G;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Variant G tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GGTAAGGTGTAA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAggtaaggtgtaaAGATCGAGACCCGACGC chr6:135753766-Variant-G;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative T tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa CGGCTGAACAGT CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAcggctgaacagtAGATCGAGACCCGACGC chr6:135753766-Alternative-T;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative T tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GTTACAAGCAGT CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgttacaagcagtAGATCGAGACCCGACGC chr6:135753766-Alternative-T;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Variant G tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GCGCGTAACAAC CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgcgcgtaacaacAGATCGAGACCCGACGC chr6:135753766-Variant-G;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Alternative T tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa GTCATTCGTCAA CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacTggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAgtcattcgtcaaAGATCGAGACCCGACGC chr6:135753766-Alternative-T;Patient-73 chr6:135753766-AG DeNovo Patient-73 intronic AHI1 NA 4.19e-05 0.01 2.83 0.24 AHI1 65136 Variant G tcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataa ACGCTTAAGGCG CGACGCGGTCTCTCTCTtcctgaccttgtgatcaacccacctcagcctcccaaagtgctgggattacGggcacgaaccaccgcgcccggccaccatattattcttatatcaagataaAGAGGGAGACGGACGTCTCAATAAacgcttaaggcgAGATCGAGACCCGACGC chr6:135753766-Variant-G;Patient-73 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative C ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcattttt AGGAACGGCGAA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAaggaacggcgaaAGATCGAGACCCGACGC chr6:136096114-Alternative-C;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative C ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcattttt CATCATGCGTCG CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAcatcatgcgtcgAGATCGAGACCCGACGC chr6:136096114-Alternative-C;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Reference G ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcattttt CTTGTCGTTGAT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAActtgtcgttgatAGATCGAGACCCGACGC chr6:136096114-Reference-G;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative C ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcattttt ACGATATGCGAT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAacgatatgcgatAGATCGAGACCCGACGC chr6:136096114-Alternative-C;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Reference G ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcattttt CTACGTTGGTGG CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAActacgttggtggAGATCGAGACCCGACGC chr6:136096114-Reference-G;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Reference G ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcattttt ACTATCCGTGTT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAactatccgtgttAGATCGAGACCCGACGC chr6:136096114-Reference-G;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Reference G ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcattttt AAGTTCATCGCT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAaagttcatcgctAGATCGAGACCCGACGC chr6:136096114-Reference-G;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Reference G ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcattttt GCAATCATGCAT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtGgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAgcaatcatgcatAGATCGAGACCCGACGC chr6:136096114-Reference-G;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative C ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcattttt ACAACGTACGAC CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAacaacgtacgacAGATCGAGACCCGACGC chr6:136096114-Alternative-C;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative T ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcattttt ACTTCAGCAAGT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAacttcagcaagtAGATCGAGACCCGACGC chr6:136096114-Alternative-T;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Variant A ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcattttt GGAGAATGGTAA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAggagaatggtaaAGATCGAGACCCGACGC chr6:136096114-Variant-A;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative T ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcattttt GGTGGCTTACCA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAggtggcttaccaAGATCGAGACCCGACGC chr6:136096114-Alternative-T;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Variant A ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcattttt GACGAACTGAGA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAgacgaactgagaAGATCGAGACCCGACGC chr6:136096114-Variant-A;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Variant A ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcattttt CAGTTATCTGCT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAcagttatctgctAGATCGAGACCCGACGC chr6:136096114-Variant-A;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative T ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcattttt CGGAAGGTTCGT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAcggaaggttcgtAGATCGAGACCCGACGC chr6:136096114-Alternative-T;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative T ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcattttt AGACGCGCAGTT CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAagacgcgcagttAGATCGAGACCCGACGC chr6:136096114-Alternative-T;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Variant A ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcattttt GAATGACTGCGG CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAgaatgactgcggAGATCGAGACCCGACGC chr6:136096114-Variant-A;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative C ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcattttt CAGCTACGCGAA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtCgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAcagctacgcgaaAGATCGAGACCCGACGC chr6:136096114-Alternative-C;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Variant A ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcattttt CAATTACCTGAG CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtAgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAcaattacctgagAGATCGAGACCCGACGC chr6:136096114-Variant-A;Patient-85 chr6:136096114-GA Inherited Patient-85 intergenic NA 0.000513 -0.1 1.43 0.46 PDE7B 76719 Alternative T ttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcattttt ACCTATTCGAGA CGACGCGGTCTCTCTCTttttttaaaaatgtgtaataaatttatctttttttccctacaggtaatgtTgggttttttttttcctctgtctgctttcaagattttttttttcatttttAGAGGGAGACGGACGTCTCAATAAacctattcgagaAGATCGAGACCCGACGC chr6:136096114-Alternative-T;Patient-85 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative G ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GATCGATCATCA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgatcgatcatcaAGATCGAGACCCGACGC chr6:137056358-Alternative-G;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative G ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CAGACTATTCCT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcagactattcctAGATCGAGACCCGACGC chr6:137056358-Alternative-G;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Variant T ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CGGACCACAGAT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcggaccacagatAGATCGAGACCCGACGC chr6:137056358-Variant-T;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative A ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GAATGCCGAACC CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgaatgccgaaccAGATCGAGACCCGACGC chr6:137056358-Alternative-A;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative A ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg ACTGCTGCGAGA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAactgctgcgagaAGATCGAGACCCGACGC chr6:137056358-Alternative-A;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Reference C ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GATTCGGCTGGT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgattcggctggtAGATCGAGACCCGACGC chr6:137056358-Reference-C;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Variant T ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CGCGGATATGCT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcgcggatatgctAGATCGAGACCCGACGC chr6:137056358-Variant-T;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Variant T ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CGCGGCTTACAT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcgcggcttacatAGATCGAGACCCGACGC chr6:137056358-Variant-T;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative A ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GTCAACGATATC CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgtcaacgatatcAGATCGAGACCCGACGC chr6:137056358-Alternative-A;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative A ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GGTGGATAGCCA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAggtggatagccaAGATCGAGACCCGACGC chr6:137056358-Alternative-A;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative A ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CGTTACTACGAA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaAatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcgttactacgaaAGATCGAGACCCGACGC chr6:137056358-Alternative-A;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative G ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GACCATACTCAA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgaccatactcaaAGATCGAGACCCGACGC chr6:137056358-Alternative-G;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative G ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg ATAGGCTGTACT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAataggctgtactAGATCGAGACCCGACGC chr6:137056358-Alternative-G;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Reference C ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg ATCGACTAGGTT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAatcgactaggttAGATCGAGACCCGACGC chr6:137056358-Reference-C;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Reference C ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg ATCGCAGCATCA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAatcgcagcatcaAGATCGAGACCCGACGC chr6:137056358-Reference-C;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Variant T ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GAGATCACAACA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgagatcacaacaAGATCGAGACCCGACGC chr6:137056358-Variant-T;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Reference C ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CAATAGGACCGG CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcaataggaccggAGATCGAGACCCGACGC chr6:137056358-Reference-C;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Reference C ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg CGAGTGAACGTT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaCatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAcgagtgaacgttAGATCGAGACCCGACGC chr6:137056358-Reference-C;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Alternative G ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg GCAACCGTGAAT CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaGatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAgcaaccgtgaatAGATCGAGACCCGACGC chr6:137056358-Alternative-G;Patient-92 chr6:137056358-CT Inherited Patient-92 intronic MAP3K5 0.000255 4.95e-05 -0.05 1.92 0.27 MAP3K5 57297 Variant T ttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatg ACTGGTTATGCA CGACGCGGTCTCTCTCTttatatgaattatgtttacataagcattaatagttattaaagcagtgtaaTatggtgatacagaaaaacttagactctagaaaattctacaggaaaaatgAGAGGGAGACGGACGTCTCAATAAactggttatgcaAGATCGAGACCCGACGC chr6:137056358-Variant-T;Patient-92 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative C ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GATTCATAGCGT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgattcatagcgtAGATCGAGACCCGACGC chr6:137072361-Alternative-C;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative C ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GAGTTGGTAGAT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgagttggtagatAGATCGAGACCCGACGC chr6:137072361-Alternative-C;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative C ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt CTCGGCAGAGAA CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAActcggcagagaaAGATCGAGACCCGACGC chr6:137072361-Alternative-C;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative C ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ATTGCTCATTCG CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAattgctcattcgAGATCGAGACCCGACGC chr6:137072361-Alternative-C;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative C ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GCGATAGCTTCG CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaCccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgcgatagcttcgAGATCGAGACCCGACGC chr6:137072361-Alternative-C;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Variant G ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GTGGCATTGACC CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgtggcattgaccAGATCGAGACCCGACGC chr6:137072361-Variant-G;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Reference A ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GGACGTAGGTGT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAggacgtaggtgtAGATCGAGACCCGACGC chr6:137072361-Reference-A;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Variant G ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt CACTTCTACTTC CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAcacttctacttcAGATCGAGACCCGACGC chr6:137072361-Variant-G;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Variant G ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ACTGTTCAAGGT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAactgttcaaggtAGATCGAGACCCGACGC chr6:137072361-Variant-G;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Variant G ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GCGGCCTTATGA CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgcggccttatgaAGATCGAGACCCGACGC chr6:137072361-Variant-G;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Variant G ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GTACAGTATCGC CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaGccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgtacagtatcgcAGATCGAGACCCGACGC chr6:137072361-Variant-G;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative T ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt CATTCTACGGTT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAcattctacggttAGATCGAGACCCGACGC chr6:137072361-Alternative-T;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative T ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt CGACTTCCATAC CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAcgacttccatacAGATCGAGACCCGACGC chr6:137072361-Alternative-T;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative T ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ATCCTCACTTCT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAatcctcacttctAGATCGAGACCCGACGC chr6:137072361-Alternative-T;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative T ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ACCTGACAGCGT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAacctgacagcgtAGATCGAGACCCGACGC chr6:137072361-Alternative-T;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Alternative T ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ATATATGGCCGA CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaTccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAatatatggccgaAGATCGAGACCCGACGC chr6:137072361-Alternative-T;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Reference A ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt GACGGCAGTAAC CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAgacggcagtaacAGATCGAGACCCGACGC chr6:137072361-Reference-A;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Reference A ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt CTTATCCTACGA CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAActtatcctacgaAGATCGAGACCCGACGC chr6:137072361-Reference-A;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Reference A ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt AACGCCATGCGT CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAaacgccatgcgtAGATCGAGACCCGACGC chr6:137072361-Reference-A;Patient-37 chr6:137072361-AG DeNovo Patient-37 intronic MAP3K5 NA 4.95e-05 0.58 10.06 2.53 MAP3K5 41294 Reference A ttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatcttt ACTTACACGCGG CGACGCGGTCTCTCTCTttttaccaccttcattttttattaggtcatcagaaggcccattatcctgaAccttcccacacatgttaagtgtttatttgggaattatggcaatatctttAGAGGGAGACGGACGTCTCAATAAacttacacgcggAGATCGAGACCCGACGC chr6:137072361-Reference-A;Patient-37 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative G ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CATGTCAACAAC CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAcatgtcaacaacAGATCGAGACCCGACGC chr6:137080439-Alternative-G;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative G ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CTCGTAGGTGGT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAActcgtaggtggtAGATCGAGACCCGACGC chr6:137080439-Alternative-G;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative G ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa GAGCATAACAAC CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAgagcataacaacAGATCGAGACCCGACGC chr6:137080439-Alternative-G;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative G ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa GACGTTAGAGCG CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAgacgttagagcgAGATCGAGACCCGACGC chr6:137080439-Alternative-G;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Variant T ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGCTCTGACGAC CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagctctgacgacAGATCGAGACCCGACGC chr6:137080439-Variant-T;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Variant T ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AACGTGTAACGA CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAaacgtgtaacgaAGATCGAGACCCGACGC chr6:137080439-Variant-T;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative G ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGAATGCAACGA CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaGgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagaatgcaacgaAGATCGAGACCCGACGC chr6:137080439-Alternative-G;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Variant T ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGCTTGTGCGCT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagcttgtgcgctAGATCGAGACCCGACGC chr6:137080439-Variant-T;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Variant T ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa ACACACGTACCA CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAacacacgtaccaAGATCGAGACCCGACGC chr6:137080439-Variant-T;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative A ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGTATATGCCGT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagtatatgccgtAGATCGAGACCCGACGC chr6:137080439-Alternative-A;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Variant T ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa GATCAACCAACT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaTgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAgatcaaccaactAGATCGAGACCCGACGC chr6:137080439-Variant-T;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative A ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGACCGTACGCT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagaccgtacgctAGATCGAGACCCGACGC chr6:137080439-Alternative-A;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative A ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CTCGCAAGTATA CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAActcgcaagtataAGATCGAGACCCGACGC chr6:137080439-Alternative-A;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative A ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CATTCTAGTCGT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAcattctagtcgtAGATCGAGACCCGACGC chr6:137080439-Alternative-A;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Reference C ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CGAGTGAATCTT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAcgagtgaatcttAGATCGAGACCCGACGC chr6:137080439-Reference-C;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Alternative A ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CAATGAGGTCAA CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaAgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAcaatgaggtcaaAGATCGAGACCCGACGC chr6:137080439-Alternative-A;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Reference C ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AAGAACCTGTTC CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAaagaacctgttcAGATCGAGACCCGACGC chr6:137080439-Reference-C;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Reference C ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa CTTAGATCATCG CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAActtagatcatcgAGATCGAGACCCGACGC chr6:137080439-Reference-C;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Reference C ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa AGCGGACTAACT CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAagcggactaactAGATCGAGACCCGACGC chr6:137080439-Reference-C;Patient-55 chr6:137080439-CT DeNovo Patient-55 intronic MAP3K5 0.000291 9.9e-05 -0.34 0.27 0.25 MAP3K5 33216 Reference C ttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaa GGTTAAGGACGC CGACGCGGTCTCTCTCTttgactaagtattatgtgcctgaacataggctgaacaatacaggcaaagaCgaacaagaagttgattcatgaatgtaccatgttcctataaagataaaaaAGAGGGAGACGGACGTCTCAATAAggttaaggacgcAGATCGAGACCCGACGC chr6:137080439-Reference-C;Patient-55 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Reference G tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattgg AGGCACGGATTA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAaggcacggattaAGATCGAGACCCGACGC chr6:137135565-Reference-G;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Reference G tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattgg AACTTGCGTTCA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAaacttgcgttcaAGATCGAGACCCGACGC chr6:137135565-Reference-G;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Reference G tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GATGACGATTCT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAgatgacgattctAGATCGAGACCCGACGC chr6:137135565-Reference-G;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Reference G tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattgg AACGAACGCAAG CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAaacgaacgcaagAGATCGAGACCCGACGC chr6:137135565-Reference-G;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Reference G tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattgg ACGAACGCTTCT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacGcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAacgaacgcttctAGATCGAGACCCGACGC chr6:137135565-Reference-G;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative T tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattgg AGGTGTCGCAAG CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAaggtgtcgcaagAGATCGAGACCCGACGC chr6:137135565-Alternative-T;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative T tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GTAGCCGCTACA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAgtagccgctacaAGATCGAGACCCGACGC chr6:137135565-Alternative-T;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative T tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattgg ACAGCTGTACGT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAacagctgtacgtAGATCGAGACCCGACGC chr6:137135565-Alternative-T;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative T tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattgg CGTGACGTACGT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAcgtgacgtacgtAGATCGAGACCCGACGC chr6:137135565-Alternative-T;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Variant A tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattgg CATCTATGCGGC CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAcatctatgcggcAGATCGAGACCCGACGC chr6:137135565-Variant-A;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative T tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GACCGAACCGAT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacTcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAgaccgaaccgatAGATCGAGACCCGACGC chr6:137135565-Alternative-T;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative C tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattgg ACCAACAGCTAA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAaccaacagctaaAGATCGAGACCCGACGC chr6:137135565-Alternative-C;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Variant A tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GGTCGTGTATCG CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAggtcgtgtatcgAGATCGAGACCCGACGC chr6:137135565-Variant-A;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative C tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GGAATGGTGACA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAggaatggtgacaAGATCGAGACCCGACGC chr6:137135565-Alternative-C;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Variant A tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattgg CATCTGCTACTA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAcatctgctactaAGATCGAGACCCGACGC chr6:137135565-Variant-A;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Variant A tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GGCTGACCACAT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAggctgaccacatAGATCGAGACCCGACGC chr6:137135565-Variant-A;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Variant A tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattgg GGCGGATGGTTA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacAcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAggcggatggttaAGATCGAGACCCGACGC chr6:137135565-Variant-A;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative C tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattgg AGAGTTGATCGT CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAagagttgatcgtAGATCGAGACCCGACGC chr6:137135565-Alternative-C;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative C tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattgg CGTCAGTTCGTC CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAcgtcagttcgtcAGATCGAGACCCGACGC chr6:137135565-Alternative-C;Patient-68 chr6:137135565-GA Inherited Patient-68 intergenic 3.2e-05 0.001025641 -0.1 1.43 0.13 MAP3K5 21908 Alternative C tctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattgg CGTCACACTAGA CGACGCGGTCTCTCTCTtctcctgcctcagcctcctcagtagctggactacaggcgcccgccaccacCcccagctaatttttatatttttagtagaggtggggtttcaccatattggAGAGGGAGACGGACGTCTCAATAAcgtcacactagaAGATCGAGACCCGACGC chr6:137135565-Alternative-C;Patient-68 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative T atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt ACATCTCACGAT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAacatctcacgatAGATCGAGACCCGACGC chr6:137193751-Alternative-T;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative T atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt ACGTGGTCATTA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAacgtggtcattaAGATCGAGACCCGACGC chr6:137193751-Alternative-T;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Reference A atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GCAGAACACATA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgcagaacacataAGATCGAGACCCGACGC chr6:137193751-Reference-A;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative T atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt ACGACGCTGGAA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAacgacgctggaaAGATCGAGACCCGACGC chr6:137193751-Alternative-T;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Variant G atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt CTCACAACCGTC CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAActcacaaccgtcAGATCGAGACCCGACGC chr6:137193751-Variant-G;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Variant G atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GGTTACGGTAGG CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAggttacggtaggAGATCGAGACCCGACGC chr6:137193751-Variant-G;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Variant G atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt AGATTGCGTTCA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAagattgcgttcaAGATCGAGACCCGACGC chr6:137193751-Variant-G;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative T atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GGCTCAAGTCGT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAggctcaagtcgtAGATCGAGACCCGACGC chr6:137193751-Alternative-T;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Variant G atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GAGCTCTCGGAT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgagctctcggatAGATCGAGACCCGACGC chr6:137193751-Variant-G;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative T atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt AATGAGGTCGAT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtTaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAaatgaggtcgatAGATCGAGACCCGACGC chr6:137193751-Alternative-T;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Reference A atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt AACGCGCAGCAT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAaacgcgcagcatAGATCGAGACCCGACGC chr6:137193751-Reference-A;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Variant G atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GAGACTCGCATT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtGaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgagactcgcattAGATCGAGACCCGACGC chr6:137193751-Variant-G;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative C atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt AGACTGCATCCA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAagactgcatccaAGATCGAGACCCGACGC chr6:137193751-Alternative-C;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Reference A atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt AATGTAGTCGAG CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAaatgtagtcgagAGATCGAGACCCGACGC chr6:137193751-Reference-A;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Reference A atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt CTTGCATGGCGA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAActtgcatggcgaAGATCGAGACCCGACGC chr6:137193751-Reference-A;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative C atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GCAAGTTGAACA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgcaagttgaacaAGATCGAGACCCGACGC chr6:137193751-Alternative-C;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Reference A atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt ATCATACGCGAC CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtAaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAatcatacgcgacAGATCGAGACCCGACGC chr6:137193751-Reference-A;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative C atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GTAAGTGCTTGT CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgtaagtgcttgtAGATCGAGACCCGACGC chr6:137193751-Alternative-C;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative C atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt ACGACTGGAATA CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAacgactggaataAGATCGAGACCCGACGC chr6:137193751-Alternative-C;Patient-77 chr6:137193751-AG DeNovo Patient-77 intronic PEX7 NA 8.38e-05 NA NA NA PEX7 50048 Alternative C atatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgattt GTTAACAGGTCG CGACGCGGTCTCTCTCTatatagaaatttggaaattgcatttcttcaggtctaattatatgagtcgtCaggctaagattgcttagatgaaaaaacaatgaacatgagtgtatgatttAGAGGGAGACGGACGTCTCAATAAgttaacaggtcgAGATCGAGACCCGACGC chr6:137193751-Alternative-C;Patient-77 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative C tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GTATCGCCACGA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgtatcgccacgaAGATCGAGACCCGACGC chr6:13765266-Alternative-C;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Reference G tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg CAAGCCTTGACC CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAcaagccttgaccAGATCGAGACCCGACGC chr6:13765266-Reference-G;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative C tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg AGCCGAACGATT CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAagccgaacgattAGATCGAGACCCGACGC chr6:13765266-Alternative-C;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative C tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg CGATAACAGACA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAcgataacagacaAGATCGAGACCCGACGC chr6:13765266-Alternative-C;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative C tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GACCTCTAATGA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgacctctaatgaAGATCGAGACCCGACGC chr6:13765266-Alternative-C;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Reference G tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GCGGACTGTCTT CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgcggactgtcttAGATCGAGACCCGACGC chr6:13765266-Reference-G;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Reference G tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg CGCTGTGTTAGG CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAcgctgtgttaggAGATCGAGACCCGACGC chr6:13765266-Reference-G;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Reference G tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GTTGGAATGACA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgttggaatgacaAGATCGAGACCCGACGC chr6:13765266-Reference-G;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Variant A tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg AAGTGACGATAC CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAaagtgacgatacAGATCGAGACCCGACGC chr6:13765266-Variant-A;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Variant A tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GGACGTTAGCGA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAggacgttagcgaAGATCGAGACCCGACGC chr6:13765266-Variant-A;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Variant A tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GAGTACCGTGCT CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgagtaccgtgctAGATCGAGACCCGACGC chr6:13765266-Variant-A;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative C tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GTACCTAGTACA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccCcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgtacctagtacaAGATCGAGACCCGACGC chr6:13765266-Alternative-C;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Reference G tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg GTATAGTTCTGG CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccGcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAgtatagttctggAGATCGAGACCCGACGC chr6:13765266-Reference-G;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Variant A tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg CGACGGTATTGC CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAcgacggtattgcAGATCGAGACCCGACGC chr6:13765266-Variant-A;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Variant A tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg CGTCTAAGATCA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccAcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAcgtctaagatcaAGATCGAGACCCGACGC chr6:13765266-Variant-A;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative T tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg AGCCAGAACGCA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAagccagaacgcaAGATCGAGACCCGACGC chr6:13765266-Alternative-T;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative T tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg AAGTTCGACATC CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAaagttcgacatcAGATCGAGACCCGACGC chr6:13765266-Alternative-T;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative T tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg ACGACACGTTCG CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAacgacacgttcgAGATCGAGACCCGACGC chr6:13765266-Alternative-T;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative T tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg ACACGTATACGG CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAacacgtatacggAGATCGAGACCCGACGC chr6:13765266-Alternative-T;Patient-65 chr6:13765266-GA DeNovo Patient-65 intergenic 6.4e-05 0.00154 -0.51 0.08 -0.8 RANBP9 53469 Alternative T tttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtg AAGTAGATGCGA CGACGCGGTCTCTCTCTtttcaccatgttggccaggctggtcttgaacccctgacctcaagtgatccTcctgcctcggcctcccaatgtgctgggattacaggcgtgagccactgtgAGAGGGAGACGGACGTCTCAATAAaagtagatgcgaAGATCGAGACCCGACGC chr6:13765266-Alternative-T;Patient-65 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative G gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac AAGCGTCACACT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAaagcgtcacactAGATCGAGACCCGACGC chr6:138666334-Alternative-G;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Variant T gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GCGTTGTGATTA CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgcgttgtgattaAGATCGAGACCCGACGC chr6:138666334-Variant-T;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Variant T gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac ACTAACCGACTA CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAactaaccgactaAGATCGAGACCCGACGC chr6:138666334-Variant-T;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Variant T gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GGTTCTATGGCG CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAggttctatggcgAGATCGAGACCCGACGC chr6:138666334-Variant-T;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative A gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GCATGCACACAT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgcatgcacacatAGATCGAGACCCGACGC chr6:138666334-Alternative-A;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative G gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CGTGACGTGCAT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAcgtgacgtgcatAGATCGAGACCCGACGC chr6:138666334-Alternative-G;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative G gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GCGAACGTGGTT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgcgaacgtggttAGATCGAGACCCGACGC chr6:138666334-Alternative-G;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Variant T gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GTAGCCGGATCA CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgtagccggatcaAGATCGAGACCCGACGC chr6:138666334-Variant-T;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative A gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac ACGATACGCGCT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAacgatacgcgctAGATCGAGACCCGACGC chr6:138666334-Alternative-A;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Variant T gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CTATGCGAAGTT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggTggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAActatgcgaagttAGATCGAGACCCGACGC chr6:138666334-Variant-T;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative G gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CGATCCGACAAC CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAcgatccgacaacAGATCGAGACCCGACGC chr6:138666334-Alternative-G;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative G gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CGGTAAGCGTTC CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggGggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAcggtaagcgttcAGATCGAGACCCGACGC chr6:138666334-Alternative-G;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative A gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GCGTTCGCGATT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgcgttcgcgattAGATCGAGACCCGACGC chr6:138666334-Alternative-A;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Reference C gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GGCTCTATCGTC CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAggctctatcgtcAGATCGAGACCCGACGC chr6:138666334-Reference-C;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative A gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GTATATAGCGAG CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgtatatagcgagAGATCGAGACCCGACGC chr6:138666334-Alternative-A;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Alternative A gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CATTACGCACTT CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggAggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAcattacgcacttAGATCGAGACCCGACGC chr6:138666334-Alternative-A;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Reference C gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac GACTAACCGGAC CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAgactaaccggacAGATCGAGACCCGACGC chr6:138666334-Reference-C;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Reference C gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CAAGTCGTAAGA CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAcaagtcgtaagaAGATCGAGACCCGACGC chr6:138666334-Reference-C;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Reference C gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac AACGTATAACGG CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAAaacgtataacggAGATCGAGACCCGACGC chr6:138666334-Reference-C;Patient-87 chr6:138666334-CT Inherited Patient-87 intergenic 6.7e-05 0.00256 -0.46 0.12 -0.3 HEBP2 59001 Reference C gcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaac CTAACCGACGAC CGACGCGGTCTCTCTCTgcatggtggctcatacctgtaatccaagcactttgggaggctgaggcaggCggatcacaaggtcaggagatcaagaccaacctggctaacatagtgaaacAGAGGGAGACGGACGTCTCAATAActaaccgacgacAGATCGAGACCCGACGC chr6:138666334-Reference-C;Patient-87 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative C ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactacc AAGGAATACGAG CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAaaggaatacgagAGATCGAGACCCGACGC chr6:14097335-Alternative-C;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative C ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactacc GTAGCCGGCATT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAgtagccggcattAGATCGAGACCCGACGC chr6:14097335-Alternative-C;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative C ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactacc AGTCGAAGTTCT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAagtcgaagttctAGATCGAGACCCGACGC chr6:14097335-Alternative-C;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative C ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactacc CAACTAGTCGCT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcaactagtcgctAGATCGAGACCCGACGC chr6:14097335-Alternative-C;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Reference A ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactacc AGTTATACGTCG CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAagttatacgtcgAGATCGAGACCCGACGC chr6:14097335-Reference-A;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative C ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactacc ACCGTACGTGTT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaCggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAaccgtacgtgttAGATCGAGACCCGACGC chr6:14097335-Alternative-C;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative G ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactacc CGTGCGCTAGAA CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcgtgcgctagaaAGATCGAGACCCGACGC chr6:14097335-Alternative-G;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Reference A ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactacc CGTTGATGTGCG CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcgttgatgtgcgAGATCGAGACCCGACGC chr6:14097335-Reference-A;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative G ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactacc ACGCGACTCACA CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAacgcgactcacaAGATCGAGACCCGACGC chr6:14097335-Alternative-G;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative G ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactacc GAATTGAGATGC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAgaattgagatgcAGATCGAGACCCGACGC chr6:14097335-Alternative-G;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative G ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactacc AACGCATCGTGC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAaacgcatcgtgcAGATCGAGACCCGACGC chr6:14097335-Alternative-G;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Variant T ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactacc CAGCTAATGTTC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcagctaatgttcAGATCGAGACCCGACGC chr6:14097335-Variant-T;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Alternative G ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactacc AACGATATCGCT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaGggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAaacgatatcgctAGATCGAGACCCGACGC chr6:14097335-Alternative-G;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Reference A ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactacc GTAAGGTGACGC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAgtaaggtgacgcAGATCGAGACCCGACGC chr6:14097335-Reference-A;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Variant T ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactacc CAGATGGACCTT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcagatggaccttAGATCGAGACCCGACGC chr6:14097335-Variant-T;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Reference A ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactacc CATTCTTACGGT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcattcttacggtAGATCGAGACCCGACGC chr6:14097335-Reference-A;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Reference A ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactacc CAGCTATACAGG CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaAggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcagctatacaggAGATCGAGACCCGACGC chr6:14097335-Reference-A;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Variant T ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactacc CGGAATTCTATC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAcggaattctatcAGATCGAGACCCGACGC chr6:14097335-Variant-T;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Variant T ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactacc AGATGCGTGGAC CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAagatgcgtggacAGATCGAGACCCGACGC chr6:14097335-Variant-T;Patient-105 chr6:14097335-AT DeNovo Patient-105 intergenic NA 3.85e-05 1.09 13.85 1.53 CD83 20151 Variant T ctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactacc GTTAGCAGTTGT CGACGCGGTCTCTCTCTctgttcccctcttagcattgctctcttccttccatttcggcttcatttcaTggctccacatgatgccaagagggctgctggttactccaggtctactaccAGAGGGAGACGGACGTCTCAATAAgttagcagttgtAGATCGAGACCCGACGC chr6:14097335-Variant-T;Patient-105 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Variant G ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GCAATCTGTAGT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgcaatctgtagtAGATCGAGACCCGACGC chr6:14129720-Variant-G;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Variant G ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggcccc CAGCGAAGATGC CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAcagcgaagatgcAGATCGAGACCCGACGC chr6:14129720-Variant-G;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Variant G ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggcccc CGGATTGCGTTC CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAcggattgcgttcAGATCGAGACCCGACGC chr6:14129720-Variant-G;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Variant G ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggcccc ACCACAAGACGG CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAaccacaagacggAGATCGAGACCCGACGC chr6:14129720-Variant-G;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Variant G ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggcccc ACTTAGTAGCCA CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcGttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAacttagtagccaAGATCGAGACCCGACGC chr6:14129720-Variant-G;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative T ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GCGCATATGCCT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgcgcatatgcctAGATCGAGACCCGACGC chr6:14129720-Alternative-T;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative A ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GGTGGATAATGT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAggtggataatgtAGATCGAGACCCGACGC chr6:14129720-Alternative-A;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative T ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggcccc AAGTTATACCGC CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAaagttataccgcAGATCGAGACCCGACGC chr6:14129720-Alternative-T;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative A ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggcccc CAGATGCTGTCA CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAcagatgctgtcaAGATCGAGACCCGACGC chr6:14129720-Alternative-A;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative T ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggcccc ATACGTCGCGGT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAatacgtcgcggtAGATCGAGACCCGACGC chr6:14129720-Alternative-T;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative A ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggcccc ACGTATACGAAG CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAacgtatacgaagAGATCGAGACCCGACGC chr6:14129720-Alternative-A;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative T ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GATAATCGTACC CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgataatcgtaccAGATCGAGACCCGACGC chr6:14129720-Alternative-T;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative T ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GTAGGTATGACT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcTttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgtaggtatgactAGATCGAGACCCGACGC chr6:14129720-Alternative-T;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Reference C ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggcccc CGCTGCGTTGTT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAcgctgcgttgttAGATCGAGACCCGACGC chr6:14129720-Reference-C;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Reference C ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GCGTTCGTGTAC CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgcgttcgtgtacAGATCGAGACCCGACGC chr6:14129720-Reference-C;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative A ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GATGTTGGCGCA CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgatgttggcgcaAGATCGAGACCCGACGC chr6:14129720-Alternative-A;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Reference C ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggcccc AATCGGTTGGTT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAaatcggttggttAGATCGAGACCCGACGC chr6:14129720-Reference-C;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Reference C ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggcccc AACAGCGCATAA CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAaacagcgcataaAGATCGAGACCCGACGC chr6:14129720-Reference-C;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Reference C ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggcccc AGGTACAGTTCG CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcCttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAaggtacagttcgAGATCGAGACCCGACGC chr6:14129720-Reference-C;Patient-19 chr6:14129720-CG DeNovo Patient-19 intronic CD83 NA 4.95e-05 0.15 5.01 -0.78 CD83 12232 Alternative A ttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggcccc GTTGGTCTTCAT CGACGCGGTCTCTCTCTttagatgtgttctggaatcagatggacactgttagtttcctctaaatttcAttggccccacctcctttttgtgctttatttttgcacacctatgggccccAGAGGGAGACGGACGTCTCAATAAgttggtcttcatAGATCGAGACCCGACGC chr6:14129720-Alternative-A;Patient-19 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Variant T gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ATAGTGGAACGT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAatagtggaacgtAGATCGAGACCCGACGC chr6:142371892-Variant-T;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Variant T gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa AAGTTACCGTCA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAaagttaccgtcaAGATCGAGACCCGACGC chr6:142371892-Variant-T;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Variant T gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CAGTAGTCACGA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAcagtagtcacgaAGATCGAGACCCGACGC chr6:142371892-Variant-T;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Variant T gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CGCAAGCCACTA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAcgcaagccactaAGATCGAGACCCGACGC chr6:142371892-Variant-T;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Variant T gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CAATGGACGTCT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccTaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAcaatggacgtctAGATCGAGACCCGACGC chr6:142371892-Variant-T;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative G gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa GGTGGAGCAGTT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAggtggagcagttAGATCGAGACCCGACGC chr6:142371892-Alternative-G;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative G gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CACTAGTGCGCT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAcactagtgcgctAGATCGAGACCCGACGC chr6:142371892-Alternative-G;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative G gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa AACACTGTTAGG CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAaacactgttaggAGATCGAGACCCGACGC chr6:142371892-Alternative-G;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative G gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa AGATTACACCGT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAagattacaccgtAGATCGAGACCCGACGC chr6:142371892-Alternative-G;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative G gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CGGTAATTCTGT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccGaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAcggtaattctgtAGATCGAGACCCGACGC chr6:142371892-Alternative-G;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Reference C gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ATAGGCTCCATA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAataggctccataAGATCGAGACCCGACGC chr6:142371892-Reference-C;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Reference C gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CTATGTGCAACA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAActatgtgcaacaAGATCGAGACCCGACGC chr6:142371892-Reference-C;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Reference C gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ACTGTGGATAGG CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAactgtggataggAGATCGAGACCCGACGC chr6:142371892-Reference-C;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Reference C gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa GTTATGCCTAAG CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAgttatgcctaagAGATCGAGACCCGACGC chr6:142371892-Reference-C;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Reference C gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ATAGATCGGAGA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccCaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAatagatcggagaAGATCGAGACCCGACGC chr6:142371892-Reference-C;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative A gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa CTAAGCATGTCA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAActaagcatgtcaAGATCGAGACCCGACGC chr6:142371892-Alternative-A;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative A gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ATCTTAAGGCCA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAatcttaaggccaAGATCGAGACCCGACGC chr6:142371892-Alternative-A;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative A gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa AAGGCTGCGTCT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAaaggctgcgtctAGATCGAGACCCGACGC chr6:142371892-Alternative-A;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative A gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa ACAACGTCGCGA CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAacaacgtcgcgaAGATCGAGACCCGACGC chr6:142371892-Alternative-A;Patient-30 chr6:142371892-CT Inherited Patient-30 intergenic NA 0.00016 NA NA NA NMBR 38043 Alternative A gcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaa GCGACTGGACTT CGACGCGGTCTCTCTCTgcagatttaacccaaagagattacctcaaggcatttaataatcaaattccAaaaggtcaaggataaataaaggattataaaagcagcaagagaaaagaaaAGAGGGAGACGGACGTCTCAATAAgcgactggacttAGATCGAGACCCGACGC chr6:142371892-Alternative-A;Patient-30 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative T ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgt ACCAAGTCAACT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAaccaagtcaactAGATCGAGACCCGACGC chr6:142710404-Alternative-T;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Reference C ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgt AACTACGTTCGA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAaactacgttcgaAGATCGAGACCCGACGC chr6:142710404-Reference-C;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Reference C ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgt CGGTCTGATTAA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAcggtctgattaaAGATCGAGACCCGACGC chr6:142710404-Reference-C;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Reference C ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgt ACCGTGCTTAGG CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAaccgtgcttaggAGATCGAGACCCGACGC chr6:142710404-Reference-C;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Reference C ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgt ACGAGGTAACTT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAacgaggtaacttAGATCGAGACCCGACGC chr6:142710404-Reference-C;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative A ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgt AACGCAGTTAGA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAaacgcagttagaAGATCGAGACCCGACGC chr6:142710404-Alternative-A;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative A ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgt CGTCAGGTATTA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAcgtcaggtattaAGATCGAGACCCGACGC chr6:142710404-Alternative-A;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative A ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgt GCAGCGTACGAA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAgcagcgtacgaaAGATCGAGACCCGACGC chr6:142710404-Alternative-A;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Reference C ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgt AGCCTTACGAGT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaCtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAagccttacgagtAGATCGAGACCCGACGC chr6:142710404-Reference-C;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative A ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgt CTTGACTCGCAT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAActtgactcgcatAGATCGAGACCCGACGC chr6:142710404-Alternative-A;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative A ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgt ACGAAGAATGCA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaAtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAacgaagaatgcaAGATCGAGACCCGACGC chr6:142710404-Alternative-A;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative T ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgt AGCAGACGCGAA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAagcagacgcgaaAGATCGAGACCCGACGC chr6:142710404-Alternative-T;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Variant G ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgt CAAGCAATCGCT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAcaagcaatcgctAGATCGAGACCCGACGC chr6:142710404-Variant-G;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative T ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgt GCCGATCCTACA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAgccgatcctacaAGATCGAGACCCGACGC chr6:142710404-Alternative-T;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Variant G ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgt GATATAGTGGAC CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAgatatagtggacAGATCGAGACCCGACGC chr6:142710404-Variant-G;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Variant G ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgt GGTCTTATGCGG CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAggtcttatgcggAGATCGAGACCCGACGC chr6:142710404-Variant-G;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative T ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgt CGCGGACGATAA CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAcgcggacgataaAGATCGAGACCCGACGC chr6:142710404-Alternative-T;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Alternative T ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgt ATAGTAGGATGC CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaTtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAatagtaggatgcAGATCGAGACCCGACGC chr6:142710404-Alternative-T;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Variant G ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgt CATTCTCGAACG CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAcattctcgaacgAGATCGAGACCCGACGC chr6:142710404-Variant-G;Patient-85 chr6:142710404-CG Inherited Patient-85 intronic ADGRG6 6.4e-05 4.95e-05 -0.06 1.82 0.73 ADGRG6 87412 Variant G ttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgt ACACATAGCGTT CGACGCGGTCTCTCTCTttggtggatttggaaattcccagaggcaaacttttacatttttttttctaGtgcctccccacaatttttactgttttcttcaacattgctataattatgtAGAGGGAGACGGACGTCTCAATAAacacatagcgttAGATCGAGACCCGACGC chr6:142710404-Variant-G;Patient-85 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative A agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GACGATCGACGA CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgacgatcgacgaAGATCGAGACCCGACGC chr6:143691716-Alternative-A;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Variant T agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgttt AAGGTTACCGGC CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAaaggttaccggcAGATCGAGACCCGACGC chr6:143691716-Variant-T;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative A agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgttt AGTAATATCGCG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAagtaatatcgcgAGATCGAGACCCGACGC chr6:143691716-Alternative-A;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Variant T agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgttt CAGGTACAGTGT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAcaggtacagtgtAGATCGAGACCCGACGC chr6:143691716-Variant-T;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative C agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GTCGCATCGAAC CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgtcgcatcgaacAGATCGAGACCCGACGC chr6:143691716-Alternative-C;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Variant T agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgttt CGTAGTAACACT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAcgtagtaacactAGATCGAGACCCGACGC chr6:143691716-Variant-T;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative A agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgttt ACCGTGACGGTT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAaccgtgacggttAGATCGAGACCCGACGC chr6:143691716-Alternative-A;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative A agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GTACGGTTCTGG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgtacggttctggAGATCGAGACCCGACGC chr6:143691716-Alternative-A;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative A agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GCGATGTGACGT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaAgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgcgatgtgacgtAGATCGAGACCCGACGC chr6:143691716-Alternative-A;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative C agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GACCTTATAACG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgaccttataacgAGATCGAGACCCGACGC chr6:143691716-Alternative-C;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative C agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GATACATTACGG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgatacattacggAGATCGAGACCCGACGC chr6:143691716-Alternative-C;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Variant T agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgttt ATACGCCACAAC CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAatacgccacaacAGATCGAGACCCGACGC chr6:143691716-Variant-T;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Reference G agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GCATGGTACGCT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgcatggtacgctAGATCGAGACCCGACGC chr6:143691716-Reference-G;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Reference G agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgttt AGTGTACTAGCT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAagtgtactagctAGATCGAGACCCGACGC chr6:143691716-Reference-G;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Reference G agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GTACAGATCTGT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgtacagatctgtAGATCGAGACCCGACGC chr6:143691716-Reference-G;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Reference G agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgttt AATGTTCGCGAT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAaatgttcgcgatAGATCGAGACCCGACGC chr6:143691716-Reference-G;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Reference G agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgttt CAACACGGATCG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaGgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAcaacacggatcgAGATCGAGACCCGACGC chr6:143691716-Reference-G;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Variant T agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgttt ATTGGACAGCGG CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaTgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAattggacagcggAGATCGAGACCCGACGC chr6:143691716-Variant-T;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative C agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgttt GTCATCGCAGGT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAgtcatcgcaggtAGATCGAGACCCGACGC chr6:143691716-Alternative-C;Patient-77 chr6:143691716-GT DeNovo Patient-77 intergenic 0.000287 0.000513 NA NA NA PEX3 80201 Alternative C agaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgttt AGAACGGCTAAT CGACGCGGTCTCTCTCTagaaggtgtgtgtgtgtgcatttttaaaattttaaaaatatcttcactgaCgtagagttggcataaattgcccacacttaaaacacatattttgatgtttAGAGGGAGACGGACGTCTCAATAAagaacggctaatAGATCGAGACCCGACGC chr6:143691716-Alternative-C;Patient-77 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Reference A gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CAGGATCGACGA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAcaggatcgacgaAGATCGAGACCCGACGC chr6:146371545-Reference-A;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Reference A gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag AATGCGCATAGT CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAaatgcgcatagtAGATCGAGACCCGACGC chr6:146371545-Reference-A;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative C gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CGAACTGTTCAA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAcgaactgttcaaAGATCGAGACCCGACGC chr6:146371545-Alternative-C;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Reference A gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GCCGCTTCGATT CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAgccgcttcgattAGATCGAGACCCGACGC chr6:146371545-Reference-A;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Reference A gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag ACTTCAACCAAG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAacttcaaccaagAGATCGAGACCCGACGC chr6:146371545-Reference-A;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative C gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CTGTTAATGACG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAActgttaatgacgAGATCGAGACCCGACGC chr6:146371545-Alternative-C;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative C gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CTTAGCGACGAC CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAActtagcgacgacAGATCGAGACCCGACGC chr6:146371545-Alternative-C;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Reference A gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag ATCGGAATACGA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacActgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAatcggaatacgaAGATCGAGACCCGACGC chr6:146371545-Reference-A;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative C gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GTATCCGTACCA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAgtatccgtaccaAGATCGAGACCCGACGC chr6:146371545-Alternative-C;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative C gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GGATGAATCGAA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacCctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAggatgaatcgaaAGATCGAGACCCGACGC chr6:146371545-Alternative-C;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative T gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CGAGTTGGCAAG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAcgagttggcaagAGATCGAGACCCGACGC chr6:146371545-Alternative-T;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative T gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag ATAATGACGCGT CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAataatgacgcgtAGATCGAGACCCGACGC chr6:146371545-Alternative-T;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Variant G gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GTAGGTGTCGCT CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAgtaggtgtcgctAGATCGAGACCCGACGC chr6:146371545-Variant-G;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Variant G gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag AAGATGCGGACG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAaagatgcggacgAGATCGAGACCCGACGC chr6:146371545-Variant-G;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Variant G gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag AGGCGCGATCTT CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAaggcgcgatcttAGATCGAGACCCGACGC chr6:146371545-Variant-G;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative T gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag CGAATTCGATAC CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAcgaattcgatacAGATCGAGACCCGACGC chr6:146371545-Alternative-T;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative T gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag AATCGTCTGACA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAaatcgtctgacaAGATCGAGACCCGACGC chr6:146371545-Alternative-T;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Variant G gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GTGAGCGAATCA CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAgtgagcgaatcaAGATCGAGACCCGACGC chr6:146371545-Variant-G;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Alternative T gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag GACGTTGGATGG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacTctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAgacgttggatggAGATCGAGACCCGACGC chr6:146371545-Alternative-T;Patient-55 chr6:146371545-AG Inherited Patient-55 intronic GRM1 NA 4.95e-05 0.45 8.94 2.17 GRM1 22626 Variant G gcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacag ATAGGATCATGG CGACGCGGTCTCTCTCTgcaagtaacagatagagggaggcattgtcagagggtaagagtagctacacGctgatttgttttaaagcacacttgatccttgaaaaaccttcaaacacagAGAGGGAGACGGACGTCTCAATAAataggatcatggAGATCGAGACCCGACGC chr6:146371545-Variant-G;Patient-55 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Reference T ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CGTACACGCGAA CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAcgtacacgcgaaAGATCGAGACCCGACGC chr6:150116229-Reference-T;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Reference T ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CTACGAGAACGC CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAActacgagaacgcAGATCGAGACCCGACGC chr6:150116229-Reference-T;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Reference T ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg AGGCTATCTATC CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAaggctatctatcAGATCGAGACCCGACGC chr6:150116229-Reference-T;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Variant C ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CGGAATATTACG CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAcggaatattacgAGATCGAGACCCGACGC chr6:150116229-Variant-C;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Reference T ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg GGAGTTGGACAC CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAggagttggacacAGATCGAGACCCGACGC chr6:150116229-Reference-T;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Reference T ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CAGATAGGTCCT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcTgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAcagataggtcctAGATCGAGACCCGACGC chr6:150116229-Reference-T;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative G ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CTGTGGACTCGA CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAActgtggactcgaAGATCGAGACCCGACGC chr6:150116229-Alternative-G;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative A ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg GGTTCAGATTGT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAggttcagattgtAGATCGAGACCCGACGC chr6:150116229-Alternative-A;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative A ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CTATGTTGCATC CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAActatgttgcatcAGATCGAGACCCGACGC chr6:150116229-Alternative-A;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative A ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CTCTAATGACCT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAActctaatgacctAGATCGAGACCCGACGC chr6:150116229-Alternative-A;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative G ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg GGACCGACTACA CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAggaccgactacaAGATCGAGACCCGACGC chr6:150116229-Alternative-G;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative A ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CTCACGGAAGCT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAActcacggaagctAGATCGAGACCCGACGC chr6:150116229-Alternative-A;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative G ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg AGTCGGCTGACT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAagtcggctgactAGATCGAGACCCGACGC chr6:150116229-Alternative-G;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Variant C ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg ACTTACGAACCT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAacttacgaacctAGATCGAGACCCGACGC chr6:150116229-Variant-C;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative A ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg ATCTGCTACCAT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcAgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAatctgctaccatAGATCGAGACCCGACGC chr6:150116229-Alternative-A;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative G ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg CATAGCCATCAG CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAcatagccatcagAGATCGAGACCCGACGC chr6:150116229-Alternative-G;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Alternative G ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg AGCATCACAACC CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcGgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAagcatcacaaccAGATCGAGACCCGACGC chr6:150116229-Alternative-G;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Variant C ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg ACGCCGATTACG CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAacgccgattacgAGATCGAGACCCGACGC chr6:150116229-Variant-C;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Variant C ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg GTAGAGTGTGAT CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAgtagagtgtgatAGATCGAGACCCGACGC chr6:150116229-Variant-C;Patient-83 chr6:150116229-TC Inherited Patient-83 intronic PCMT1 NA 4.95e-05 0.36 7.91 0.05 PCMT1 45397 Variant C ataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctg AGAGTTGCATGA CGACGCGGTCTCTCTCTataagccaggcatggtggcaggcacctgtaatcctagctactcaggaggcCgaggcaggagaatcgcttgaacctgggaggcggaggttgcagtgagctgAGAGGGAGACGGACGTCTCAATAAagagttgcatgaAGATCGAGACCCGACGC chr6:150116229-Variant-C;Patient-83 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Variant G ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GTTCCGGAGCTT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgttccggagcttAGATCGAGACCCGACGC chr6:151216843-Variant-G;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Variant G ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat AGGCTCTCTGAC CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAaggctctctgacAGATCGAGACCCGACGC chr6:151216843-Variant-G;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Variant G ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GCGCCGTCATTA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgcgccgtcattaAGATCGAGACCCGACGC chr6:151216843-Variant-G;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Reference A ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GTCGTGCTCGTT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgtcgtgctcgttAGATCGAGACCCGACGC chr6:151216843-Reference-A;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Variant G ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat CACGAATCAGTT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAcacgaatcagttAGATCGAGACCCGACGC chr6:151216843-Variant-G;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative T ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GATGATACATGG CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgatgatacatggAGATCGAGACCCGACGC chr6:151216843-Alternative-T;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Variant G ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat ATCTGCGGAGCA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaGagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAatctgcggagcaAGATCGAGACCCGACGC chr6:151216843-Variant-G;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Reference A ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat CGACCGTGAGAA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAcgaccgtgagaaAGATCGAGACCCGACGC chr6:151216843-Reference-A;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Reference A ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat AACCGGTTATCA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAaaccggttatcaAGATCGAGACCCGACGC chr6:151216843-Reference-A;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative T ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GATCGTCGATTA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgatcgtcgattaAGATCGAGACCCGACGC chr6:151216843-Alternative-T;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Reference A ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat ATTGTGCGGTTA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAattgtgcggttaAGATCGAGACCCGACGC chr6:151216843-Reference-A;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Reference A ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat CTAGGCGGATTA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaAagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAActaggcggattaAGATCGAGACCCGACGC chr6:151216843-Reference-A;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative T ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GTTCAACTTCGC CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAgttcaacttcgcAGATCGAGACCCGACGC chr6:151216843-Alternative-T;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative C ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat AGCTGCGGCATT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAagctgcggcattAGATCGAGACCCGACGC chr6:151216843-Alternative-C;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative C ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat GGCTATTGCATT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAggctattgcattAGATCGAGACCCGACGC chr6:151216843-Alternative-C;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative T ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat ACTGTGCGTACC CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAactgtgcgtaccAGATCGAGACCCGACGC chr6:151216843-Alternative-T;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative T ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat CGGCTAATGACC CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaTagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAcggctaatgaccAGATCGAGACCCGACGC chr6:151216843-Alternative-T;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative C ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat ACTCGTGACGGT CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAactcgtgacggtAGATCGAGACCCGACGC chr6:151216843-Alternative-C;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative C ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat CTACGCGTCTGA CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAActacgcgtctgaAGATCGAGACCCGACGC chr6:151216843-Alternative-C;Patient-66 chr6:151216843-AG DeNovo Patient-66 intronic MTHFD1L 0.000128 4.95e-05 0.25 6.54 2.52 MTHFD1L 30027 Alternative C ccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggat AGTAACGCAATC CGACGCGGTCTCTCTCTccttttcagtttaaatttagtgcatggcatggctcatgaaagacttttaaCagtgaattggaaaattctaaatgtacttgtattatacatgtgaaaggatAGAGGGAGACGGACGTCTCAATAAagtaacgcaatcAGATCGAGACCCGACGC chr6:151216843-Alternative-C;Patient-66 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Reference G tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcac CGTTCCTAATCA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcgttcctaatcaAGATCGAGACCCGACGC chr6:152025799-Reference-G;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Reference G tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcac GATAAGCAACGT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgataagcaacgtAGATCGAGACCCGACGC chr6:152025799-Reference-G;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative A tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcac ACGTAGATGTTC CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAacgtagatgttcAGATCGAGACCCGACGC chr6:152025799-Alternative-A;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Reference G tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcac GTCGAGGTGACA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgtcgaggtgacaAGATCGAGACCCGACGC chr6:152025799-Reference-G;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Reference G tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcac CGATACTAATCG CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcgatactaatcgAGATCGAGACCCGACGC chr6:152025799-Reference-G;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative T tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcac CAGTTGGTGACA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcagttggtgacaAGATCGAGACCCGACGC chr6:152025799-Alternative-T;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative T tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcac ATCGTACGTGAT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAatcgtacgtgatAGATCGAGACCCGACGC chr6:152025799-Alternative-T;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Reference G tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcac CGCATCCGACTT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttGtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcgcatccgacttAGATCGAGACCCGACGC chr6:152025799-Reference-G;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative T tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcac AACGACACGGAC CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAaacgacacggacAGATCGAGACCCGACGC chr6:152025799-Alternative-T;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Variant C tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcac GTCGTCCGAATA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgtcgtccgaataAGATCGAGACCCGACGC chr6:152025799-Variant-C;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative A tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcac GCGTATCACGCT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgcgtatcacgctAGATCGAGACCCGACGC chr6:152025799-Alternative-A;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative T tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcac GTCAACGACTTA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgtcaacgacttaAGATCGAGACCCGACGC chr6:152025799-Alternative-T;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative A tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcac CGACTTAACAGG CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcgacttaacaggAGATCGAGACCCGACGC chr6:152025799-Alternative-A;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative A tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcac GGCCGGATTAGT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAggccggattagtAGATCGAGACCCGACGC chr6:152025799-Alternative-A;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative A tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcac CACGCACGGATA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttAtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcacgcacggataAGATCGAGACCCGACGC chr6:152025799-Alternative-A;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Alternative T tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcac CAGGTGTCGCTA CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttTtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAcaggtgtcgctaAGATCGAGACCCGACGC chr6:152025799-Alternative-T;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Variant C tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcac GCGTATGCCGTT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAgcgtatgccgttAGATCGAGACCCGACGC chr6:152025799-Variant-C;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Variant C tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcac ATCGGCTTCGCT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAatcggcttcgctAGATCGAGACCCGACGC chr6:152025799-Variant-C;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Variant C tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcac GGAACGCTGTTC CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAggaacgctgttcAGATCGAGACCCGACGC chr6:152025799-Variant-C;Patient-19 chr6:152025799-GC DeNovo Patient-19 intronic ESR1 NA 0.00016 -0.1 1.43 0.26 ESR1 14167 Variant C tcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcac GGTTACAGTTGT CGACGCGGTCTCTCTCTtcatgtctggagtcagtgagctcagtcaagtagtttgcagaatgacagttCtgatacctattcatttacccaccagattattttctgctctccatggcacAGAGGGAGACGGACGTCTCAATAAggttacagttgtAGATCGAGACCCGACGC chr6:152025799-Variant-C;Patient-19 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative A tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CTGGCGGTGATT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAActggcggtgattAGATCGAGACCCGACGC chr6:15300415-Alternative-A;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative A tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca AACGCGACGAAC CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAaacgcgacgaacAGATCGAGACCCGACGC chr6:15300415-Alternative-A;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative A tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CATCTCGGATGG CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAcatctcggatggAGATCGAGACCCGACGC chr6:15300415-Alternative-A;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative A tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GGAACCTAGTCT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAggaacctagtctAGATCGAGACCCGACGC chr6:15300415-Alternative-A;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Reference C tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CACGATAGTGCG CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAcacgatagtgcgAGATCGAGACCCGACGC chr6:15300415-Reference-C;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative A tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GATTGAAGATGG CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcAgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAgattgaagatggAGATCGAGACCCGACGC chr6:15300415-Alternative-A;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Reference C tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca AGTGTAACTCGT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAagtgtaactcgtAGATCGAGACCCGACGC chr6:15300415-Reference-C;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Reference C tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CGTATCGTATGA CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAcgtatcgtatgaAGATCGAGACCCGACGC chr6:15300415-Reference-C;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Reference C tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca ATAGCTTCGCTT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAatagcttcgcttAGATCGAGACCCGACGC chr6:15300415-Reference-C;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative G tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca ATCCGGATTACA CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAatccggattacaAGATCGAGACCCGACGC chr6:15300415-Alternative-G;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Reference C tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GCCAACAGTAGG CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcCgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAgccaacagtaggAGATCGAGACCCGACGC chr6:15300415-Reference-C;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative G tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca AGCAGAAGTTGT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAagcagaagttgtAGATCGAGACCCGACGC chr6:15300415-Alternative-G;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative G tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GCGATCGGTTGT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAgcgatcggttgtAGATCGAGACCCGACGC chr6:15300415-Alternative-G;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative G tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CACACGGTTACA CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAcacacggttacaAGATCGAGACCCGACGC chr6:15300415-Alternative-G;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Variant T tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca ATAATCTGCGAC CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAataatctgcgacAGATCGAGACCCGACGC chr6:15300415-Variant-T;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Alternative G tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca CGAGAACGGTGT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcGgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAcgagaacggtgtAGATCGAGACCCGACGC chr6:15300415-Alternative-G;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Variant T tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GCATCGTCGTCT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAgcatcgtcgtctAGATCGAGACCCGACGC chr6:15300415-Variant-T;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Variant T tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca AGCGTTCGGCAT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAagcgttcggcatAGATCGAGACCCGACGC chr6:15300415-Variant-T;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Variant T tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GGTCATATCGGC CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAggtcatatcggcAGATCGAGACCCGACGC chr6:15300415-Variant-T;Patient-91 chr6:15300415-CT Inherited Patient-91 intronic JARID2 3.2e-05 4.95e-05 -0.38 0.21 -2.53 JARID2 54208 Variant T tctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgacca GCATGTCACGAT CGACGCGGTCTCTCTCTtctcctgcatttggggttgggataggcagaaatctgttggaaaaattttcTgcagtgaaggttggatgggtgttctgtcctgtttttaattctttgaccaAGAGGGAGACGGACGTCTCAATAAgcatgtcacgatAGATCGAGACCCGACGC chr6:15300415-Variant-T;Patient-91 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Variant C tctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CATTGGTTCGTT CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAcattggttcgttAGATCGAGACCCGACGC chr6:154267283-Variant-C;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Variant C tctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CGACCATTAAGG CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAcgaccattaaggAGATCGAGACCCGACGC chr6:154267283-Variant-C;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative A tctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacct ATCCGAATTGCG CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAatccgaattgcgAGATCGAGACCCGACGC chr6:154267283-Alternative-A;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative A tctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GTGTTGGCGTCT CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgtgttggcgtctAGATCGAGACCCGACGC chr6:154267283-Alternative-A;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Variant C tctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GATAGGAGTTGT CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgataggagttgtAGATCGAGACCCGACGC chr6:154267283-Variant-C;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Variant C tctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CTTGATCTTGCA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAActtgatcttgcaAGATCGAGACCCGACGC chr6:154267283-Variant-C;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Variant C tctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CACTTCTAAGCA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgCggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAcacttctaagcaAGATCGAGACCCGACGC chr6:154267283-Variant-C;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative T tctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacct ACAGCTCGACAC CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAacagctcgacacAGATCGAGACCCGACGC chr6:154267283-Alternative-T;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative A tctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacct ACTACGTGTAGT CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAactacgtgtagtAGATCGAGACCCGACGC chr6:154267283-Alternative-A;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative A tctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GTACGCGTACGA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgtacgcgtacgaAGATCGAGACCCGACGC chr6:154267283-Alternative-A;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative T tctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GTTGGTCCTACC CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgttggtcctaccAGATCGAGACCCGACGC chr6:154267283-Alternative-T;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Reference G tctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GCCAGGTATCAA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgccaggtatcaaAGATCGAGACCCGACGC chr6:154267283-Reference-G;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative A tctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CTGGCACGCATA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgAggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAActggcacgcataAGATCGAGACCCGACGC chr6:154267283-Alternative-A;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Reference G tctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GTCTCGCGGTAA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgtctcgcggtaaAGATCGAGACCCGACGC chr6:154267283-Reference-G;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative T tctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GATAAGCAACAC CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgataagcaacacAGATCGAGACCCGACGC chr6:154267283-Alternative-T;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Reference G tctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacct AGTAGGATGGAA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAagtaggatggaaAGATCGAGACCCGACGC chr6:154267283-Reference-G;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative T tctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacct ACGTCGCGTGAA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAacgtcgcgtgaaAGATCGAGACCCGACGC chr6:154267283-Alternative-T;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Reference G tctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GACGGTAGCCTA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAgacggtagcctaAGATCGAGACCCGACGC chr6:154267283-Reference-G;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Alternative T tctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacct GGATACTGCGCA CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgTggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAAggatactgcgcaAGATCGAGACCCGACGC chr6:154267283-Alternative-T;Patient-55 chr6:154267283-GC Inherited Patient-55 intergenic NA 0.000513 -0.39 0.19 -1.37 OPRM1 64347 Reference G tctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacct CTATCGCATTCT CGACGCGGTCTCTCTCTtctactctgacctccttctcccatttcattttctgcgtttagatctcctgGggttctgggggagaaatattagtggcaaggtgtatttatacaactacctAGAGGGAGACGGACGTCTCAATAActatcgcattctAGATCGAGACCCGACGC chr6:154267283-Reference-G;Patient-55 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Variant C tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GAGTGTCTCGAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgagtgtctcgacAGATCGAGACCCGACGC chr6:154270957-Variant-C;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Reference G tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GCGTTATGATAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgcgttatgatacAGATCGAGACCCGACGC chr6:154270957-Reference-G;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Reference G tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GTCAACTTATGG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgtcaacttatggAGATCGAGACCCGACGC chr6:154270957-Reference-G;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative T tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GACCTATCGCAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgacctatcgcacAGATCGAGACCCGACGC chr6:154270957-Alternative-T;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Variant C tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GCAGTGAATTCT CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgcagtgaattctAGATCGAGACCCGACGC chr6:154270957-Variant-C;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative A tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa CATTCAGATGGT CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAcattcagatggtAGATCGAGACCCGACGC chr6:154270957-Alternative-A;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative A tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa ATAGCTGTATGG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAatagctgtatggAGATCGAGACCCGACGC chr6:154270957-Alternative-A;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Reference G tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa AGGAGGTTCATA CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAaggaggttcataAGATCGAGACCCGACGC chr6:154270957-Reference-G;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative T tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa CAACGTCCGACT CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAcaacgtccgactAGATCGAGACCCGACGC chr6:154270957-Alternative-T;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Variant C tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa AGTTAATACGCG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAagttaatacgcgAGATCGAGACCCGACGC chr6:154270957-Variant-C;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Variant C tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GGCTAACCACAG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAggctaaccacagAGATCGAGACCCGACGC chr6:154270957-Variant-C;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative T tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa CGTCGAATGTAA CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAcgtcgaatgtaaAGATCGAGACCCGACGC chr6:154270957-Alternative-T;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Variant C tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa AGAGTACTGACA CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaCaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAagagtactgacaAGATCGAGACCCGACGC chr6:154270957-Variant-C;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative A tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa CTGCTCGTACAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAActgctcgtacacAGATCGAGACCCGACGC chr6:154270957-Alternative-A;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative A tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa CATCTCGGACAG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAcatctcggacagAGATCGAGACCCGACGC chr6:154270957-Alternative-A;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative T tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa ACGAGCGAAGCT CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAacgagcgaagctAGATCGAGACCCGACGC chr6:154270957-Alternative-T;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative T tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GTTATGCACAAG CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaTaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgttatgcacaagAGATCGAGACCCGACGC chr6:154270957-Alternative-T;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Reference G tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GAGTTGGTGGAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgagttggtggacAGATCGAGACCCGACGC chr6:154270957-Reference-G;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Alternative A tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa AACGACAGCGAC CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaAaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAaacgacagcgacAGATCGAGACCCGACGC chr6:154270957-Alternative-A;Patient-57 chr6:154270957-GC DeNovo Patient-57 intergenic NA 0.000513 -0.1 1.43 -0.56 OPRM1 60673 Reference G tctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaa GACGACTGACCT CGACGCGGTCTCTCTCTtctagttagtcaggttaaagacatccaccagtgagcatgaaaacccaagaGaatcctgaagacgatccaaaagggcaagaggatgagctacctcccccaaAGAGGGAGACGGACGTCTCAATAAgacgactgacctAGATCGAGACCCGACGC chr6:154270957-Reference-G;Patient-57 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative C ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AGAATCGTCACT CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAagaatcgtcactAGATCGAGACCCGACGC chr6:155873887-Alternative-C;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative C ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat ACCTGGCTAATT CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAacctggctaattAGATCGAGACCCGACGC chr6:155873887-Alternative-C;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Variant G ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AAGGACGGACGA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAaaggacggacgaAGATCGAGACCCGACGC chr6:155873887-Variant-G;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative C ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AACGCGAATAGT CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAaacgcgaatagtAGATCGAGACCCGACGC chr6:155873887-Alternative-C;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Reference T ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat ACTAGGTCTGAC CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAactaggtctgacAGATCGAGACCCGACGC chr6:155873887-Reference-T;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Variant G ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AGAATCATCGAG CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAagaatcatcgagAGATCGAGACCCGACGC chr6:155873887-Variant-G;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative C ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat CGAGTATACTGA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAcgagtatactgaAGATCGAGACCCGACGC chr6:155873887-Alternative-C;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Reference T ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AGGCGAATCTTA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAaggcgaatcttaAGATCGAGACCCGACGC chr6:155873887-Reference-T;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Reference T ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat ATCCGTACTACA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAatccgtactacaAGATCGAGACCCGACGC chr6:155873887-Reference-T;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative A ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat GATATGCCGTCG CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAgatatgccgtcgAGATCGAGACCCGACGC chr6:155873887-Alternative-A;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Variant G ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat AGGAGTCCGTCT CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAaggagtccgtctAGATCGAGACCCGACGC chr6:155873887-Variant-G;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Variant G ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat CAGCAAGTGAAC CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAcagcaagtgaacAGATCGAGACCCGACGC chr6:155873887-Variant-G;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative A ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat GTGTAATCAACC CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAgtgtaatcaaccAGATCGAGACCCGACGC chr6:155873887-Alternative-A;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Reference T ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat GCAGACGATTAA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAgcagacgattaaAGATCGAGACCCGACGC chr6:155873887-Reference-T;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Variant G ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat CGACTGCGGTAT CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatGgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAcgactgcggtatAGATCGAGACCCGACGC chr6:155873887-Variant-G;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative A ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat CAACGGATGCAG CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAcaacggatgcagAGATCGAGACCCGACGC chr6:155873887-Alternative-A;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative C ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat GCCTTAGTTACA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatCgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAgccttagttacaAGATCGAGACCCGACGC chr6:155873887-Alternative-C;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative A ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat ACGCCGATAAGG CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAacgccgataaggAGATCGAGACCCGACGC chr6:155873887-Alternative-A;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Reference T ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat CATTGGTTATGG CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatTgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAcattggttatggAGATCGAGACCCGACGC chr6:155873887-Reference-T;Patient-49 chr6:155873887-TG DeNovo Patient-49 intergenic NA 0.000513 -0.05 1.95 -0.29 NOX3 96849 Alternative A ttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatat GCGACTTGAACA CGACGCGGTCTCTCTCTttctgatatttatgcctttgcatttttttggaatatctgaatagtaccatAgacagtgggcacttcagtcttttaaaaaatttaatttgagtcttaatatAGAGGGAGACGGACGTCTCAATAAgcgacttgaacaAGATCGAGACCCGACGC chr6:155873887-Alternative-A;Patient-49 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative C tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt ACGTTAGCCATT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAacgttagccattAGATCGAGACCCGACGC chr6:15685223-Alternative-C;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative T tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt ACTTACACGCTT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAacttacacgcttAGATCGAGACCCGACGC chr6:15685223-Alternative-T;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative T tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt AATCTGACAGCT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAaatctgacagctAGATCGAGACCCGACGC chr6:15685223-Alternative-T;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative C tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GTAGCGTCTAGA CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAgtagcgtctagaAGATCGAGACCCGACGC chr6:15685223-Alternative-C;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative C tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GTACAGTGCATT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAgtacagtgcattAGATCGAGACCCGACGC chr6:15685223-Alternative-C;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative T tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GACTGAAGACGG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAgactgaagacggAGATCGAGACCCGACGC chr6:15685223-Alternative-T;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative C tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt CGGATAGCTTCG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAcggatagcttcgAGATCGAGACCCGACGC chr6:15685223-Alternative-C;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Reference G tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt ACTGCATGACCG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAactgcatgaccgAGATCGAGACCCGACGC chr6:15685223-Reference-G;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative T tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt CTTAGGCTCGCT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAActtaggctcgctAGATCGAGACCCGACGC chr6:15685223-Alternative-T;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Reference G tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GACGCGTAATAT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAgacgcgtaatatAGATCGAGACCCGACGC chr6:15685223-Reference-G;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Reference G tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt CTCGTCACTAAG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAActcgtcactaagAGATCGAGACCCGACGC chr6:15685223-Reference-G;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative T tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt ACTTACGCCTGG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacTgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAacttacgcctggAGATCGAGACCCGACGC chr6:15685223-Alternative-T;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Variant A tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt AGAACGCATGTT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAagaacgcatgttAGATCGAGACCCGACGC chr6:15685223-Variant-A;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Alternative C tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt AGCCAGGAGATT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacCgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAagccaggagattAGATCGAGACCCGACGC chr6:15685223-Alternative-C;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Reference G tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GTGTCGTGATCG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAgtgtcgtgatcgAGATCGAGACCCGACGC chr6:15685223-Reference-G;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Reference G tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt GGCCGTCATGTT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacGgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAggccgtcatgttAGATCGAGACCCGACGC chr6:15685223-Reference-G;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Variant A tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt CGTTATACGCGG CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAcgttatacgcggAGATCGAGACCCGACGC chr6:15685223-Variant-A;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Variant A tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt AGCGTCGTAGTC CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAagcgtcgtagtcAGATCGAGACCCGACGC chr6:15685223-Variant-A;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Variant A tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt ACGACTCATTCT CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAacgactcattctAGATCGAGACCCGACGC chr6:15685223-Variant-A;Patient-66 chr6:15685223-GA DeNovo Patient-66 intergenic 0.000223 0.000513 -0.28 0.41 -1.07 DTNBP1 21933 Variant A tgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtatt CAGCTTAGACGC CGACGCGGTCTCTCTCTtgggccacaaaccggtactggtctgtggcctgttaggaactgagctgcacAgcgggaggtgagtggtaggcgagcaagcaggcaaagcttcatccgtattAGAGGGAGACGGACGTCTCAATAAcagcttagacgcAGATCGAGACCCGACGC chr6:15685223-Variant-A;Patient-66 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Reference G atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GTTAGGCCAATA CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgttaggccaataAGATCGAGACCCGACGC chr6:158595051-Reference-G;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative C atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc AGCAGGTTCTAT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAagcaggttctatAGATCGAGACCCGACGC chr6:158595051-Alternative-C;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Reference G atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc CTGGCGAACAGT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAActggcgaacagtAGATCGAGACCCGACGC chr6:158595051-Reference-G;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative C atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc CTCACGTCGGAA CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAActcacgtcggaaAGATCGAGACCCGACGC chr6:158595051-Alternative-C;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Reference G atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GTCAGTTAGGAT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgtcagttaggatAGATCGAGACCCGACGC chr6:158595051-Reference-G;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative T atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc ACACGGTATGAA CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAacacggtatgaaAGATCGAGACCCGACGC chr6:158595051-Alternative-T;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Reference G atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GATGACCATATC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgatgaccatatcAGATCGAGACCCGACGC chr6:158595051-Reference-G;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Reference G atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GCCAATGTTCGC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcGcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgccaatgttcgcAGATCGAGACCCGACGC chr6:158595051-Reference-G;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative T atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GATAGCGACGGT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgatagcgacggtAGATCGAGACCCGACGC chr6:158595051-Alternative-T;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative T atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc ACTGAACAGCGA CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAactgaacagcgaAGATCGAGACCCGACGC chr6:158595051-Alternative-T;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative C atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GGTGATCGAATC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAggtgatcgaatcAGATCGAGACCCGACGC chr6:158595051-Alternative-C;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Variant A atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc AGCGCTCTGAAC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAagcgctctgaacAGATCGAGACCCGACGC chr6:158595051-Variant-A;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative T atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc ACCTGTACGAAT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAacctgtacgaatAGATCGAGACCCGACGC chr6:158595051-Alternative-T;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative T atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc CGGATCCAACGA CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcTcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAcggatccaacgaAGATCGAGACCCGACGC chr6:158595051-Alternative-T;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Variant A atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc CTAATATCGTCC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAActaatatcgtccAGATCGAGACCCGACGC chr6:158595051-Variant-A;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Variant A atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GGTTAACTGGTT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAggttaactggttAGATCGAGACCCGACGC chr6:158595051-Variant-A;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative C atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc ATATGACCGAAC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAatatgaccgaacAGATCGAGACCCGACGC chr6:158595051-Alternative-C;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Alternative C atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc CTCAACCAGGAC CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcCcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAActcaaccaggacAGATCGAGACCCGACGC chr6:158595051-Alternative-C;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Variant A atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc GATCAGTTGGTT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAgatcagttggttAGATCGAGACCCGACGC chr6:158595051-Variant-A;Patient-12 chr6:158595051-GA DeNovo Patient-12 intronic GTF2H5 3.2e-05 4.19e-05 NA NA NA GTF2H5 5671 Variant A atggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgcc AGATCGTCTAGT CGACGCGGTCTCTCTCTatggcatttgtaaactgtcgtggtgctggtgggggtggtttttagcgtgcAcatgcattatgatttgtgtatgatagtggtgaaggttgcttttgttgccAGAGGGAGACGGACGTCTCAATAAagatcgtctagtAGATCGAGACCCGACGC chr6:158595051-Variant-A;Patient-12 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative G atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GACGATCATAAG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgacgatcataagAGATCGAGACCCGACGC chr6:160089512-Alternative-G;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative G atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GTACGTACCAAG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgtacgtaccaagAGATCGAGACCCGACGC chr6:160089512-Alternative-G;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative G atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GACGCGGTTCAA CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgacgcggttcaaAGATCGAGACCCGACGC chr6:160089512-Alternative-G;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative G atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GTCGTAGCATAT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgtcgtagcatatAGATCGAGACCCGACGC chr6:160089512-Alternative-G;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Variant T atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GTCGGACGACTT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgtcggacgacttAGATCGAGACCCGACGC chr6:160089512-Variant-T;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Variant T atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GAATCGCGCACA CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgaatcgcgcacaAGATCGAGACCCGACGC chr6:160089512-Variant-T;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Variant T atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg ATCGTAGATTCG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAatcgtagattcgAGATCGAGACCCGACGC chr6:160089512-Variant-T;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Variant T atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GTACTCCGTTCG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgtactccgttcgAGATCGAGACCCGACGC chr6:160089512-Variant-T;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative G atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GCGGCTTATGGT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcGggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgcggcttatggtAGATCGAGACCCGACGC chr6:160089512-Alternative-G;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Variant T atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GGTAGCTTGCGT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcTggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAggtagcttgcgtAGATCGAGACCCGACGC chr6:160089512-Variant-T;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Reference C atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GTCTCGCATATA CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgtctcgcatataAGATCGAGACCCGACGC chr6:160089512-Reference-C;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative A atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GGTTGTAATTCG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAggttgtaattcgAGATCGAGACCCGACGC chr6:160089512-Alternative-A;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative A atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg GACTAGTCGCAG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAgactagtcgcagAGATCGAGACCCGACGC chr6:160089512-Alternative-A;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative A atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg CGGAACGATCGT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAcggaacgatcgtAGATCGAGACCCGACGC chr6:160089512-Alternative-A;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative A atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg CGTTGTGCAACG CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAcgttgtgcaacgAGATCGAGACCCGACGC chr6:160089512-Alternative-A;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Reference C atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg AATGTGCTCGAT CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAaatgtgctcgatAGATCGAGACCCGACGC chr6:160089512-Reference-C;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Reference C atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg CTCGGCATACGA CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAActcggcatacgaAGATCGAGACCCGACGC chr6:160089512-Reference-C;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Alternative A atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg CATTAGATGTGC CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcAggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAcattagatgtgcAGATCGAGACCCGACGC chr6:160089512-Alternative-A;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Reference C atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg AGCATCGTGCAC CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAagcatcgtgcacAGATCGAGACCCGACGC chr6:160089512-Reference-C;Patient-35 chr6:160089512-CT DeNovo Patient-35 intergenic 9.7e-05 0.000513 -0.64 0.03 -0.77 SOD2 24840 Reference C atccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtgg CGGCTCTCTTGA CGACGCGGTCTCTCTCTatccaaaattagttgggtgtggtggcgcatgcctgtaatcccagctactcCggaggctgaggcaggagaatcgctggaacctgagaggcggaggttgtggAGAGGGAGACGGACGTCTCAATAAcggctctcttgaAGATCGAGACCCGACGC chr6:160089512-Reference-C;Patient-35 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Reference T attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GTTGATGCTAAG CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAgttgatgctaagAGATCGAGACCCGACGC chr6:1646175-Reference-T;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Reference T attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GCAGGTGTAATA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAgcaggtgtaataAGATCGAGACCCGACGC chr6:1646175-Reference-T;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Variant A attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GGTTGAGTTAAG CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAggttgagttaagAGATCGAGACCCGACGC chr6:1646175-Variant-A;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Variant A attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct AATCACGCGGCA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAaatcacgcggcaAGATCGAGACCCGACGC chr6:1646175-Variant-A;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Variant A attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CGGACCTCATGT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcggacctcatgtAGATCGAGACCCGACGC chr6:1646175-Variant-A;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative C attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CGCAGCTAGATA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcgcagctagataAGATCGAGACCCGACGC chr6:1646175-Alternative-C;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Variant A attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CGCATTATTACG CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcgcattattacgAGATCGAGACCCGACGC chr6:1646175-Variant-A;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Variant A attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct AAGTGCGATCTA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagAgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAaagtgcgatctaAGATCGAGACCCGACGC chr6:1646175-Variant-A;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative C attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CATCTACTTCCT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcatctacttcctAGATCGAGACCCGACGC chr6:1646175-Alternative-C;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative C attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CAGTTGTGAATC CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcagttgtgaatcAGATCGAGACCCGACGC chr6:1646175-Alternative-C;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Reference T attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GCCTTGACCATC CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAgccttgaccatcAGATCGAGACCCGACGC chr6:1646175-Reference-T;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative C attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct ATTACGGACCTA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAattacggacctaAGATCGAGACCCGACGC chr6:1646175-Alternative-C;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative G attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CGGCGTCAAGTT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcggcgtcaagttAGATCGAGACCCGACGC chr6:1646175-Alternative-G;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Reference T attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CAACGCTAACGA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcaacgctaacgaAGATCGAGACCCGACGC chr6:1646175-Reference-T;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative C attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GTGTCGGATTAT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagCgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAgtgtcggattatAGATCGAGACCCGACGC chr6:1646175-Alternative-C;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative G attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct AATAAGCGGTGT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAaataagcggtgtAGATCGAGACCCGACGC chr6:1646175-Alternative-G;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative G attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CGCGTAATCCGA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcgcgtaatccgaAGATCGAGACCCGACGC chr6:1646175-Alternative-G;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative G attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct CACGAATAACAG CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAcacgaataacagAGATCGAGACCCGACGC chr6:1646175-Alternative-G;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Reference T attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct AGCGTCAGACGT CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagTgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAagcgtcagacgtAGATCGAGACCCGACGC chr6:1646175-Reference-T;Patient-75 chr6:1646175-TA DeNovo Patient-75 intronic GMDS NA 4.95e-05 -0.19 0.79 -0.92 FOXC1 35493 Alternative G attttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcct GATCCACGAGCA CGACGCGGTCTCTCTCTattttgccaatccacccactaccctgtcgtctgcctccctagaacatcagGgctgagtgcactatatggacctctgtcttcaggacctggcactgtgcctAGAGGGAGACGGACGTCTCAATAAgatccacgagcaAGATCGAGACCCGACGC chr6:1646175-Alternative-G;Patient-75 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative G tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct GACGTTGAGCGA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAgacgttgagcgaAGATCGAGACCCGACGC chr6:166112838-Alternative-G;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Reference C tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CATCAACACGAC CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAcatcaacacgacAGATCGAGACCCGACGC chr6:166112838-Reference-C;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative G tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct ATTGCCTCTCGG CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAattgcctctcggAGATCGAGACCCGACGC chr6:166112838-Alternative-G;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Reference C tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct GCGTAATAGTCA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAgcgtaatagtcaAGATCGAGACCCGACGC chr6:166112838-Reference-C;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Variant T tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AAGCGTGCATGC CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAaagcgtgcatgcAGATCGAGACCCGACGC chr6:166112838-Variant-T;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Variant T tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AAGCGTGTGTCG CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAaagcgtgtgtcgAGATCGAGACCCGACGC chr6:166112838-Variant-T;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Variant T tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct GAGATGATGCAT CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAgagatgatgcatAGATCGAGACCCGACGC chr6:166112838-Variant-T;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Variant T tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CTAAGGCGTATA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAActaaggcgtataAGATCGAGACCCGACGC chr6:166112838-Variant-T;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Variant T tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AGTACGTACCAC CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacTtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAagtacgtaccacAGATCGAGACCCGACGC chr6:166112838-Variant-T;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative G tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CGTGGAACGCAA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAcgtggaacgcaaAGATCGAGACCCGACGC chr6:166112838-Alternative-G;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Reference C tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AGTTCCACTAGA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAagttccactagaAGATCGAGACCCGACGC chr6:166112838-Reference-C;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative A tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct ACTCTAACCAGA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAactctaaccagaAGATCGAGACCCGACGC chr6:166112838-Alternative-A;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative G tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AGTACTAGAACG CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAagtactagaacgAGATCGAGACCCGACGC chr6:166112838-Alternative-G;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Reference C tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AGCTGACGAATA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAagctgacgaataAGATCGAGACCCGACGC chr6:166112838-Reference-C;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative A tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CACAACTCAACG CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAcacaactcaacgAGATCGAGACCCGACGC chr6:166112838-Alternative-A;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative A tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CGTCTTGTCGGT CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAcgtcttgtcggtAGATCGAGACCCGACGC chr6:166112838-Alternative-A;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Reference C tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct CGTTATCGTTCA CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacCtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAcgttatcgttcaAGATCGAGACCCGACGC chr6:166112838-Reference-C;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative A tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct GTAGAGCATAGT CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAgtagagcatagtAGATCGAGACCCGACGC chr6:166112838-Alternative-A;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative A tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct GTACCACTGGAC CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacAtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAgtaccactggacAGATCGAGACCCGACGC chr6:166112838-Alternative-A;Patient-55 chr6:166112838-CT Inherited Patient-55 intergenic 0.000733 0.00103 -0.08 1.6 0.51 PDE10A 37249 Alternative G tataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggct AAGGCTAAGACT CGACGCGGTCTCTCTCTtataaagatatgcatttaacaacagagcaccaaaatataggaaacaaaacGtaatgaacataaaaggagaaatagaaaattcaacaaaaatatgcaggctAGAGGGAGACGGACGTCTCAATAAaaggctaagactAGATCGAGACCCGACGC chr6:166112838-Alternative-G;Patient-55 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative C gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AGTCGCAGCTGT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAagtcgcagctgtAGATCGAGACCCGACGC chr6:166540588-Alternative-C;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Reference A gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GTAACGATGAGT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAgtaacgatgagtAGATCGAGACCCGACGC chr6:166540588-Reference-A;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative T gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AATGGTCATCGT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAaatggtcatcgtAGATCGAGACCCGACGC chr6:166540588-Alternative-T;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Variant G gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat ACACCACGCGTT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAacaccacgcgttAGATCGAGACCCGACGC chr6:166540588-Variant-G;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative T gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat CTGCGAAGTCGA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAActgcgaagtcgaAGATCGAGACCCGACGC chr6:166540588-Alternative-T;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative T gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GTAGATGAGTCA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAgtagatgagtcaAGATCGAGACCCGACGC chr6:166540588-Alternative-T;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative C gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GGTCATGTCCGA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAggtcatgtccgaAGATCGAGACCCGACGC chr6:166540588-Alternative-C;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative C gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GGTTCTGGATTA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAggttctggattaAGATCGAGACCCGACGC chr6:166540588-Alternative-C;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative C gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AATACCGGTCAT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAaataccggtcatAGATCGAGACCCGACGC chr6:166540588-Alternative-C;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Reference A gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AGCATCCGGTTC CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAagcatccggttcAGATCGAGACCCGACGC chr6:166540588-Reference-A;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Reference A gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AGAACGTCTAGA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAagaacgtctagaAGATCGAGACCCGACGC chr6:166540588-Reference-A;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative T gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat CGTGGAGTGGAT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAcgtggagtggatAGATCGAGACCCGACGC chr6:166540588-Alternative-T;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Variant G gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GGTTGCTACCGA CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAggttgctaccgaAGATCGAGACCCGACGC chr6:166540588-Variant-G;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Reference A gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat ATTCGATCGACC CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAattcgatcgaccAGATCGAGACCCGACGC chr6:166540588-Reference-A;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative T gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat AGATGCGGAGGT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggTaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAagatgcggaggtAGATCGAGACCCGACGC chr6:166540588-Alternative-T;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Alternative C gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat CGTAGTGGCATC CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggCaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAcgtagtggcatcAGATCGAGACCCGACGC chr6:166540588-Alternative-C;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Reference A gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat ATAATGTTCGGC CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggAaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAataatgttcggcAGATCGAGACCCGACGC chr6:166540588-Reference-A;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Variant G gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat GACATCTATACG CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAAgacatctatacgAGATCGAGACCCGACGC chr6:166540588-Variant-G;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Variant G gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat CTAATGAGTGCT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAActaatgagtgctAGATCGAGACCCGACGC chr6:166540588-Variant-G;Patient-29 chr6:166540588-AG DeNovo Patient-29 intergenic NA 0.000512821 -0.2 0.73 -0.84 TBXT 41568 Variant G gtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaat CTCTAATACGCT CGACGCGGTCTCTCTCTgtcacatactaaattatacatttcaggaagaagtgctaccgagtttcaggGaaaacagtgattatcagaactttaaaaatccagatgtgctattagaaatAGAGGGAGACGGACGTCTCAATAActctaatacgctAGATCGAGACCCGACGC chr6:166540588-Variant-G;Patient-29 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Variant G tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CATTGAGATGCT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcattgagatgctAGATCGAGACCCGACGC chr6:166633956-Variant-G;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Variant G tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CTATACCGTACT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAActataccgtactAGATCGAGACCCGACGC chr6:166633956-Variant-G;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Reference A tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CGTCGCTTAACC CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcgtcgcttaaccAGATCGAGACCCGACGC chr6:166633956-Reference-A;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative C tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CATTCTTAGCCA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcattcttagccaAGATCGAGACCCGACGC chr6:166633956-Alternative-C;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative T tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag AGTGAGACTCGG CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAagtgagactcggAGATCGAGACCCGACGC chr6:166633956-Alternative-T;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Variant G tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ATCGACCGCATA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAatcgaccgcataAGATCGAGACCCGACGC chr6:166633956-Variant-G;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Reference A tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ACATCGCGGCAT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAacatcgcggcatAGATCGAGACCCGACGC chr6:166633956-Reference-A;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Reference A tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CGCGGTAACTAT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcgcggtaactatAGATCGAGACCCGACGC chr6:166633956-Reference-A;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative T tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag GTGAACCGAACT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAgtgaaccgaactAGATCGAGACCCGACGC chr6:166633956-Alternative-T;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative T tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag AGACGAGTAGCT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAagacgagtagctAGATCGAGACCCGACGC chr6:166633956-Alternative-T;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Reference A tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag GATTCCTGCATT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAgattcctgcattAGATCGAGACCCGACGC chr6:166633956-Reference-A;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative C tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ATCGGACGCGTT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAatcggacgcgttAGATCGAGACCCGACGC chr6:166633956-Alternative-C;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Reference A tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CATCATAACAGG CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccAcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcatcataacaggAGATCGAGACCCGACGC chr6:166633956-Reference-A;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Variant G tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag GACTGGTAATGA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAgactggtaatgaAGATCGAGACCCGACGC chr6:166633956-Variant-G;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative C tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ACCGGACGACAT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAaccggacgacatAGATCGAGACCCGACGC chr6:166633956-Alternative-C;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative C tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ACTAAGGCTCTA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAactaaggctctaAGATCGAGACCCGACGC chr6:166633956-Alternative-C;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative C tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag ACTCCAACGGCA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccCcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAactccaacggcaAGATCGAGACCCGACGC chr6:166633956-Alternative-C;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Variant G tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag AGCCGACGATGA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccGcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAagccgacgatgaAGATCGAGACCCGACGC chr6:166633956-Variant-G;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative T tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CAACTCCGACGA CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAAcaactccgacgaAGATCGAGACCCGACGC chr6:166633956-Alternative-T;Patient-65 chr6:166633956-AG Inherited Patient-65 intergenic 3.2e-05 0.000512821 -0.13 1.15 0 TBXT 51798 Alternative T tccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaag CTCGTTCCGAGT CGACGCGGTCTCTCTCTtccgcccacctcggcctcccaaagtgctgggattacaggcttgagccaccTcgcccagccttattgtggtaattttcatctcagcagaatgttttccaagAGAGGGAGACGGACGTCTCAATAActcgttccgagtAGATCGAGACCCGACGC chr6:166633956-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Variant G cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac AGTTGACCTAAG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAagttgacctaagAGATCGAGACCCGACGC chr6:166633962-Variant-G;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Variant G cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac GTCGGAATAACA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAgtcggaataacaAGATCGAGACCCGACGC chr6:166633962-Variant-G;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Variant G cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac GCAACGACAACG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAgcaacgacaacgAGATCGAGACCCGACGC chr6:166633962-Variant-G;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative T cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac GATAGGCGCAGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAgataggcgcagtAGATCGAGACCCGACGC chr6:166633962-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative T cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac AGCTGATCAACT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAagctgatcaactAGATCGAGACCCGACGC chr6:166633962-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Variant G cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac CGTGCAACACGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAcgtgcaacacgtAGATCGAGACCCGACGC chr6:166633962-Variant-G;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative T cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac GCGGATGTAATT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAgcggatgtaattAGATCGAGACCCGACGC chr6:166633962-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Variant G cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ATAGTGTGGTAC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccGgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAatagtgtggtacAGATCGAGACCCGACGC chr6:166633962-Variant-G;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative T cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ACGTTACACACG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAacgttacacacgAGATCGAGACCCGACGC chr6:166633962-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Reference A cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac CGCTCGAAGATT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAcgctcgaagattAGATCGAGACCCGACGC chr6:166633962-Reference-A;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative T cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ACCGGACGAATC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccTgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAaccggacgaatcAGATCGAGACCCGACGC chr6:166633962-Alternative-T;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Reference A cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ACGATGACTAAG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAacgatgactaagAGATCGAGACCCGACGC chr6:166633962-Reference-A;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Reference A cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac AATAGTGGACGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAaatagtggacgtAGATCGAGACCCGACGC chr6:166633962-Reference-A;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative C cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac AGTAGGTGAATC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAagtaggtgaatcAGATCGAGACCCGACGC chr6:166633962-Alternative-C;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative C cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac GGCGGATATGGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAggcggatatggtAGATCGAGACCCGACGC chr6:166633962-Alternative-C;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Reference A cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac CTGTCGTCGTAC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAActgtcgtcgtacAGATCGAGACCCGACGC chr6:166633962-Reference-A;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative C cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ATAACACGGTTC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAataacacggttcAGATCGAGACCCGACGC chr6:166633962-Alternative-C;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative C cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac AGTGCTACGCCT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAagtgctacgcctAGATCGAGACCCGACGC chr6:166633962-Alternative-C;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Alternative C cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac CGCCATTAGATA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccCgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAcgccattagataAGATCGAGACCCGACGC chr6:166633962-Alternative-C;Patient-65 chr6:166633962-AG Inherited Patient-65 intergenic 3.2e-05 0.000513 -0.09 1.47 0 TBXT 51804 Reference A cacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatac ACACGATCTGCG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgggattacaggcttgagccaccacgcccAgccttattgtggtaattttcatctcagcagaatgttttccaagtgatacAGAGGGAGACGGACGTCTCAATAAacacgatctgcgAGATCGAGACCCGACGC chr6:166633962-Reference-A;Patient-65 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative G gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AGTTCTGGCGAC CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAagttctggcgacAGATCGAGACCCGACGC chr6:167312880-Alternative-G;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative G gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CATAAGCCGACC CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcataagccgaccAGATCGAGACCCGACGC chr6:167312880-Alternative-G;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative G gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AAGACCTCATAC CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAaagacctcatacAGATCGAGACCCGACGC chr6:167312880-Alternative-G;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Variant T gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CAACGTATGGTT CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcaacgtatggttAGATCGAGACCCGACGC chr6:167312880-Variant-T;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative G gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg ACTATCAGGAGA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAactatcaggagaAGATCGAGACCCGACGC chr6:167312880-Alternative-G;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative G gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CGCCTAACAACA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggGggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcgcctaacaacaAGATCGAGACCCGACGC chr6:167312880-Alternative-G;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Variant T gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CTATCCTAGCGT CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAActatcctagcgtAGATCGAGACCCGACGC chr6:167312880-Variant-T;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Variant T gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg ATCTCGATAAGG CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAatctcgataaggAGATCGAGACCCGACGC chr6:167312880-Variant-T;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Variant T gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg GATCAGTGTGAA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAgatcagtgtgaaAGATCGAGACCCGACGC chr6:167312880-Variant-T;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative A gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AGTAGTGGCCGT CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAagtagtggccgtAGATCGAGACCCGACGC chr6:167312880-Alternative-A;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative A gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AAGTACGAGCTA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAaagtacgagctaAGATCGAGACCCGACGC chr6:167312880-Alternative-A;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative A gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CTTGTCGTCACG CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAActtgtcgtcacgAGATCGAGACCCGACGC chr6:167312880-Alternative-A;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Variant T gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AATCGCGGATGG CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggTggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAaatcgcggatggAGATCGAGACCCGACGC chr6:167312880-Variant-T;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative A gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg GATCGGTATCAA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAgatcggtatcaaAGATCGAGACCCGACGC chr6:167312880-Alternative-A;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Alternative A gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CGGCGTGGAATT CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggAggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcggcgtggaattAGATCGAGACCCGACGC chr6:167312880-Alternative-A;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Reference C gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CGTGCTTGAGCA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcgtgcttgagcaAGATCGAGACCCGACGC chr6:167312880-Reference-C;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Reference C gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg CGACGGTATGAG CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAcgacggtatgagAGATCGAGACCCGACGC chr6:167312880-Reference-C;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Reference C gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AGTTGAGTAACG CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAagttgagtaacgAGATCGAGACCCGACGC chr6:167312880-Reference-C;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Reference C gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg AATGCTCGCTAA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAaatgctcgctaaAGATCGAGACCCGACGC chr6:167312880-Reference-C;Patient-76 chr6:167312880-CT Inherited Patient-76 intergenic NA 0.000513 0.2 5.91 0 RPS6KA2 37108 Reference C gagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccagg GAGATCTGTCTA CGACGCGGTCTCTCTCTgagtaacagagtagggagaacgccggtgaatgcactgggtggcggggcggCggggggtgtggagaacgccacttgaacgcatatgggggaggacgccaggAGAGGGAGACGGACGTCTCAATAAgagatctgtctaAGATCGAGACCCGACGC chr6:167312880-Reference-C;Patient-76 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative G tccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GGTTCGGACCAT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAggttcggaccatAGATCGAGACCCGACGC chr6:167345332-Alternative-G;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative G tccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GATTGCACATCA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgattgcacatcaAGATCGAGACCCGACGC chr6:167345332-Alternative-G;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Variant T tccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GGCTATTGATAC CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAggctattgatacAGATCGAGACCCGACGC chr6:167345332-Variant-T;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative G tccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GCGGATAGGTGT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgcggataggtgtAGATCGAGACCCGACGC chr6:167345332-Alternative-G;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Variant T tccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CGGATTAGGATT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAcggattaggattAGATCGAGACCCGACGC chr6:167345332-Variant-T;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative A tccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CAACGTGTAGAA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAcaacgtgtagaaAGATCGAGACCCGACGC chr6:167345332-Alternative-A;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative G tccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CTAGTAGTCGAT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAActagtagtcgatAGATCGAGACCCGACGC chr6:167345332-Alternative-G;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Variant T tccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc AAGCGGCGGTAA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAaagcggcggtaaAGATCGAGACCCGACGC chr6:167345332-Variant-T;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Variant T tccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CGACAGCTTAAG CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAcgacagcttaagAGATCGAGACCCGACGC chr6:167345332-Variant-T;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Variant T tccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GCGGTAGTATAA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaTgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgcggtagtataaAGATCGAGACCCGACGC chr6:167345332-Variant-T;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative A tccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CTGTTAGGTGAT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAActgttaggtgatAGATCGAGACCCGACGC chr6:167345332-Alternative-A;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Reference C tccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GGTCACGTTACG CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAggtcacgttacgAGATCGAGACCCGACGC chr6:167345332-Reference-C;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative G tccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc CGGACTTCGTCA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaGgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAcggacttcgtcaAGATCGAGACCCGACGC chr6:167345332-Alternative-G;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Reference C tccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GCATGATATGCT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgcatgatatgctAGATCGAGACCCGACGC chr6:167345332-Reference-C;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative A tccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc ATAACGGTGCAC CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAataacggtgcacAGATCGAGACCCGACGC chr6:167345332-Alternative-A;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative A tccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc ACTAGACGGACG CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAactagacggacgAGATCGAGACCCGACGC chr6:167345332-Alternative-A;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Reference C tccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GATAGTGCGATA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgatagtgcgataAGATCGAGACCCGACGC chr6:167345332-Reference-C;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Alternative A tccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GTCGCAAGGCTA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaAgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAgtcgcaaggctaAGATCGAGACCCGACGC chr6:167345332-Alternative-A;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Reference C tccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc GGATCTCGCGTT CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAggatctcgcgttAGATCGAGACCCGACGC chr6:167345332-Reference-C;Patient-75 chr6:167345332-CT DeNovo Patient-75 intronic RNASET2 9.6e-05 4.95e-05 -0.54 0.06 -1.83 RNASET2 24744 Reference C tccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggc ACCGAGGATCCA CGACGCGGTCTCTCTCTtccagcagatgccttttgccccttgcctcagacactgtccactccttccaCgaagctctcctgtgggcctcctgagcacctgctccactgaccgcctggcAGAGGGAGACGGACGTCTCAATAAaccgaggatccaAGATCGAGACCCGACGC chr6:167345332-Reference-C;Patient-75 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative A gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GGACATAACTGA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAggacataactgaAGATCGAGACCCGACGC chr6:168495220-Alternative-A;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative G gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GGTCGTTATCAA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAggtcgttatcaaAGATCGAGACCCGACGC chr6:168495220-Alternative-G;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Reference C gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CGCCTCGTCTAA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcgcctcgtctaaAGATCGAGACCCGACGC chr6:168495220-Reference-C;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative G gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg ATTCCAACCAGG CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAattccaaccaggAGATCGAGACCCGACGC chr6:168495220-Alternative-G;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Reference C gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GTTGTGCTCATT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAgttgtgctcattAGATCGAGACCCGACGC chr6:168495220-Reference-C;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative G gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CATAGCCGGTAT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcatagccggtatAGATCGAGACCCGACGC chr6:168495220-Alternative-G;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative A gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CGTAACTAAGGT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcgtaactaaggtAGATCGAGACCCGACGC chr6:168495220-Alternative-A;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative G gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg AGTTGACAGGAT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAagttgacaggatAGATCGAGACCCGACGC chr6:168495220-Alternative-G;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Reference C gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GGAGATCGGTAT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAggagatcggtatAGATCGAGACCCGACGC chr6:168495220-Reference-C;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative G gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CGAACTTCGCAG CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgGttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcgaacttcgcagAGATCGAGACCCGACGC chr6:168495220-Alternative-G;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Variant T gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CAGGAGTTGCCT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcaggagttgcctAGATCGAGACCCGACGC chr6:168495220-Variant-T;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Reference C gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GCGATGCATCGA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAgcgatgcatcgaAGATCGAGACCCGACGC chr6:168495220-Reference-C;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Reference C gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg AGTACGCGACCA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgCttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAagtacgcgaccaAGATCGAGACCCGACGC chr6:168495220-Reference-C;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Variant T gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CGGTATAACGAA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcggtataacgaaAGATCGAGACCCGACGC chr6:168495220-Variant-T;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Variant T gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GTCTCCATTCGG CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAgtctccattcggAGATCGAGACCCGACGC chr6:168495220-Variant-T;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative A gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg ACTGAGTGGCGT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAactgagtggcgtAGATCGAGACCCGACGC chr6:168495220-Alternative-A;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Variant T gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg AACGATCGCGCA CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAaacgatcgcgcaAGATCGAGACCCGACGC chr6:168495220-Variant-T;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative A gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg GTTCGAGGCCTT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAgttcgaggccttAGATCGAGACCCGACGC chr6:168495220-Alternative-A;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Alternative A gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg ACGCGCGCTAAT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgAttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAacgcgcgctaatAGATCGAGACCCGACGC chr6:168495220-Alternative-A;Patient-100 chr6:168495220-CT DeNovo Patient-100 intergenic 3.2e-05 0.00142 -0.15 0.97 0.23 KIF25 76666 Variant T gtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaagg CATTGGTCTTGT CGACGCGGTCTCTCTCTgtccccaactctcagccaaagcagaacagctggggaacggggtgaaggtgTttacaccttttccagatgtgttcacacacagagtcacatcgagcaaaggAGAGGGAGACGGACGTCTCAATAAcattggtcttgtAGATCGAGACCCGACGC chr6:168495220-Variant-T;Patient-100 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative G actcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacact CGAGTGGTCTTC CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAcgagtggtcttcAGATCGAGACCCGACGC chr6:169636431-Alternative-G;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative G actcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacact AGCTAGACGCGT CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAagctagacgcgtAGATCGAGACCCGACGC chr6:169636431-Alternative-G;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative G actcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacact GCGAGTCGTAAG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgcgagtcgtaagAGATCGAGACCCGACGC chr6:169636431-Alternative-G;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative G actcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacact ACGTCTAACTGA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAacgtctaactgaAGATCGAGACCCGACGC chr6:169636431-Alternative-G;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative G actcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacact CGCAATAGTACC CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaGactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAcgcaatagtaccAGATCGAGACCCGACGC chr6:169636431-Alternative-G;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Variant T actcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacact AGATCATAAGCG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAagatcataagcgAGATCGAGACCCGACGC chr6:169636431-Variant-T;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Variant T actcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacact AACAATACGCAG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAaacaatacgcagAGATCGAGACCCGACGC chr6:169636431-Variant-T;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Variant T actcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacact GGTATCAATCGA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAggtatcaatcgaAGATCGAGACCCGACGC chr6:169636431-Variant-T;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Variant T actcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacact CTAATGTAGTCG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAActaatgtagtcgAGATCGAGACCCGACGC chr6:169636431-Variant-T;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative A actcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacact CTTAGATCGTCA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAActtagatcgtcaAGATCGAGACCCGACGC chr6:169636431-Alternative-A;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Variant T actcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacact AGACGTATCGCG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaTactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAagacgtatcgcgAGATCGAGACCCGACGC chr6:169636431-Variant-T;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative A actcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacact GTTCGCACATAA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgttcgcacataaAGATCGAGACCCGACGC chr6:169636431-Alternative-A;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative A actcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacact GACTATACTCGA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgactatactcgaAGATCGAGACCCGACGC chr6:169636431-Alternative-A;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative A actcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacact GGTAACTCTGAG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAggtaactctgagAGATCGAGACCCGACGC chr6:169636431-Alternative-A;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Alternative A actcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacact AGAGCAGCATCG CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaAactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAagagcagcatcgAGATCGAGACCCGACGC chr6:169636431-Alternative-A;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Reference C actcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacact GGTATGACCGAT CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAggtatgaccgatAGATCGAGACCCGACGC chr6:169636431-Reference-C;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Reference C actcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacact GATCCATTCGTT CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgatccattcgttAGATCGAGACCCGACGC chr6:169636431-Reference-C;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Reference C actcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacact GTAACGCTCCTA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgtaacgctcctaAGATCGAGACCCGACGC chr6:169636431-Reference-C;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Reference C actcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacact GAGATCTCGATA CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgagatctcgataAGATCGAGACCCGACGC chr6:169636431-Reference-C;Patient-26 chr6:169636431-CT DeNovo Patient-26 intronic THBS2 NA 4.95e-05 0.27 6.86 0.15 THBS2 17705 Reference C actcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacact GACTGAAGGTGT CGACGCGGTCTCTCTCTactcattcccatccacagtcactccccatccacactcactcccccatccaCactcactccccatccacactccccatccacactcactcccatccacactAGAGGGAGACGGACGTCTCAATAAgactgaaggtgtAGATCGAGACCCGACGC chr6:169636431-Reference-C;Patient-26 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Reference C tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GAGTCTGGTTCG CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgagtctggttcgAGATCGAGACCCGACGC chr6:170525524-Reference-C;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative G tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CGGATTGGAGGT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcggattggaggtAGATCGAGACCCGACGC chr6:170525524-Alternative-G;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative G tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GTAAGGCGCGAA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgtaaggcgcgaaAGATCGAGACCCGACGC chr6:170525524-Alternative-G;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative A tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CGACGGCAAGAT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcgacggcaagatAGATCGAGACCCGACGC chr6:170525524-Alternative-A;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative A tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CAGCAAGTCGCT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcagcaagtcgctAGATCGAGACCCGACGC chr6:170525524-Alternative-A;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Reference C tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga AACGGCGTACCT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAaacggcgtacctAGATCGAGACCCGACGC chr6:170525524-Reference-C;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Reference C tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CGGTCCGAACAT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcggtccgaacatAGATCGAGACCCGACGC chr6:170525524-Reference-C;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative A tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GTATCCTATGCT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgtatcctatgctAGATCGAGACCCGACGC chr6:170525524-Alternative-A;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative A tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GTCGCAATTGAT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgtcgcaattgatAGATCGAGACCCGACGC chr6:170525524-Alternative-A;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Reference C tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GAATCGATACGA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgaatcgatacgaAGATCGAGACCCGACGC chr6:170525524-Reference-C;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Variant T tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GGATAGACGATT CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAggatagacgattAGATCGAGACCCGACGC chr6:170525524-Variant-T;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative A tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CTAGGCCGTAAG CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaAgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAActaggccgtaagAGATCGAGACCCGACGC chr6:170525524-Alternative-A;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Reference C tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga AACAGATCGGAA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaCgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAaacagatcggaaAGATCGAGACCCGACGC chr6:170525524-Reference-C;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative G tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GCCAATGAGCTA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgccaatgagctaAGATCGAGACCCGACGC chr6:170525524-Alternative-G;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Variant T tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga GAGGTGTTATGA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAgaggtgttatgaAGATCGAGACCCGACGC chr6:170525524-Variant-T;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative G tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CGGAGGTTGAGA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcggaggttgagaAGATCGAGACCCGACGC chr6:170525524-Alternative-G;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Variant T tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga AGATTGATCACG CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAagattgatcacgAGATCGAGACCCGACGC chr6:170525524-Variant-T;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Variant T tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CTCAATGAGTCA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAActcaatgagtcaAGATCGAGACCCGACGC chr6:170525524-Variant-T;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Variant T tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga CAGCACACATCA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaTgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAcagcacacatcaAGATCGAGACCCGACGC chr6:170525524-Variant-T;Patient-87 chr6:170525524-CT Inherited Patient-87 intergenic 0.00016 0.000513 -0.15 1.01 0 DLL1 74172 Alternative G tgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctga AGCAATCCGCGA CGACGCGGTCTCTCTCTtgttgtcgaacgtagtgcacacgtacaacggcaggtctgtcgcacacggaGgacggcaggtctgtcgcacacgtacgacggcaggtctgtcggcacctgaAGAGGGAGACGGACGTCTCAATAAagcaatccgcgaAGATCGAGACCCGACGC chr6:170525524-Alternative-G;Patient-87 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Variant C cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GCCGATGTAATA CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgccgatgtaataAGATCGAGACCCGACGC chr6:170802034-Variant-C;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Variant C cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GGCCAACCTATC CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAggccaacctatcAGATCGAGACCCGACGC chr6:170802034-Variant-C;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Variant C cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GGTGTCGAACCT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAggtgtcgaacctAGATCGAGACCCGACGC chr6:170802034-Variant-C;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Variant C cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CTTACGGTTGTT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAActtacggttgttAGATCGAGACCCGACGC chr6:170802034-Variant-C;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative A cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GGATACACCTTA CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAggatacaccttaAGATCGAGACCCGACGC chr6:170802034-Alternative-A;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative G cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgc ACCAATAACGAG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAaccaataacgagAGATCGAGACCCGACGC chr6:170802034-Alternative-G;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative A cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CACGATACGTCG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAcacgatacgtcgAGATCGAGACCCGACGC chr6:170802034-Alternative-A;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative A cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GTCGCGCAAGAT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgtcgcgcaagatAGATCGAGACCCGACGC chr6:170802034-Alternative-A;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative A cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CAGGACATACGC CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAcaggacatacgcAGATCGAGACCCGACGC chr6:170802034-Alternative-A;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative A cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CGACTAATTCCT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaAgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAcgactaattcctAGATCGAGACCCGACGC chr6:170802034-Alternative-A;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative G cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CTCTTGACTACA CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAActcttgactacaAGATCGAGACCCGACGC chr6:170802034-Alternative-G;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Variant C cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GAGTAATCGCGG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaCgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgagtaatcgcggAGATCGAGACCCGACGC chr6:170802034-Variant-C;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Reference T cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GTCTATTCTCGA CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgtctattctcgaAGATCGAGACCCGACGC chr6:170802034-Reference-T;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Reference T cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgc AACGAACTGTCG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAaacgaactgtcgAGATCGAGACCCGACGC chr6:170802034-Reference-T;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Reference T cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GCATCTGGTCCT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgcatctggtcctAGATCGAGACCCGACGC chr6:170802034-Reference-T;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Reference T cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CACGATAGTAAG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAcacgatagtaagAGATCGAGACCCGACGC chr6:170802034-Reference-T;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Reference T cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GGAACTCATACG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaTgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAggaactcatacgAGATCGAGACCCGACGC chr6:170802034-Reference-T;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative G cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgc GATTCTCGCGAG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAgattctcgcgagAGATCGAGACCCGACGC chr6:170802034-Alternative-G;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative G cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgc CATTGATCATGG CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAcattgatcatggAGATCGAGACCCGACGC chr6:170802034-Alternative-G;Patient-30 chr6:170802034-TC Inherited Patient-30 intergenic NA 0.000512821 NA NA NA TBP 61386 Alternative G cctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgc ACCGTGCTAGGT CGACGCGGTCTCTCTCTcctcagacctctagcctgtgacagcacagccaccctctccctggcagacaGgccactcacaaacagggccccaaggggcccagaggggacagggctctgcAGAGGGAGACGGACGTCTCAATAAaccgtgctaggtAGATCGAGACCCGACGC chr6:170802034-Alternative-G;Patient-30 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative G gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GTTCATAACGTC CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgttcataacgtcAGATCGAGACCCGACGC chr6:17671992-Alternative-G;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative G gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac CTAGGTACATCA CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAActaggtacatcaAGATCGAGACCCGACGC chr6:17671992-Alternative-G;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Variant T gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac AACGCAACGACT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAaacgcaacgactAGATCGAGACCCGACGC chr6:17671992-Variant-T;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative G gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac CTTGCGTTAACT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAActtgcgttaactAGATCGAGACCCGACGC chr6:17671992-Alternative-G;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Variant T gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac ACGACGGTCTAC CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAacgacggtctacAGATCGAGACCCGACGC chr6:17671992-Variant-T;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative G gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GGTCACGATTCG CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAggtcacgattcgAGATCGAGACCCGACGC chr6:17671992-Alternative-G;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative G gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GATGCTCGATAT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaGttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgatgctcgatatAGATCGAGACCCGACGC chr6:17671992-Alternative-G;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Variant T gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac ATCGCTCTATAC CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAatcgctctatacAGATCGAGACCCGACGC chr6:17671992-Variant-T;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Variant T gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GCATCAGACGCT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgcatcagacgctAGATCGAGACCCGACGC chr6:17671992-Variant-T;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Variant T gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac AAGGTGACGACC CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaTttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAaaggtgacgaccAGATCGAGACCCGACGC chr6:17671992-Variant-T;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Reference C gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GGCCAATCAATA CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAggccaatcaataAGATCGAGACCCGACGC chr6:17671992-Reference-C;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Reference C gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac ACGTGACGTACA CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAacgtgacgtacaAGATCGAGACCCGACGC chr6:17671992-Reference-C;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative A gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GGTATCTTGGAT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAggtatcttggatAGATCGAGACCCGACGC chr6:17671992-Alternative-A;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative A gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac ATATTCTGGCGT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAatattctggcgtAGATCGAGACCCGACGC chr6:17671992-Alternative-A;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Reference C gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac AGTCTCTCACAT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAagtctctcacatAGATCGAGACCCGACGC chr6:17671992-Reference-C;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative A gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac CACGATTGGCGT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAcacgattggcgtAGATCGAGACCCGACGC chr6:17671992-Alternative-A;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative A gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GTAGTCTGACAT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgtagtctgacatAGATCGAGACCCGACGC chr6:17671992-Alternative-A;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Reference C gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GATAGTGTTCGT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgatagtgttcgtAGATCGAGACCCGACGC chr6:17671992-Reference-C;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Reference C gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac GCCTTCTTGAAT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaCttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAgccttcttgaatAGATCGAGACCCGACGC chr6:17671992-Reference-C;Patient-35 chr6:17671992-CT DeNovo Patient-35 intronic NUP153 NA 4.95e-05 0.04 3.24 0.39 NUP153 35072 Alternative A gcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagac CATCGCTATGTT CGACGCGGTCTCTCTCTgcaatctcaatcatggctgggcatgctggctcatacctataataccagcaAttttgggaggccaaggtgggcggatcacctgaggtcaggagttcgagacAGAGGGAGACGGACGTCTCAATAAcatcgctatgttAGATCGAGACCCGACGC chr6:17671992-Alternative-A;Patient-35 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative A taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat ACAAGCGCCAAC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAacaagcgccaacAGATCGAGACCCGACGC chr6:17686960-Alternative-A;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Reference T taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat AAGGTTGCGCCT CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAaaggttgcgcctAGATCGAGACCCGACGC chr6:17686960-Reference-T;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative A taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat ACATAGACGTCC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAacatagacgtccAGATCGAGACCCGACGC chr6:17686960-Alternative-A;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative G taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GACAAGCCGTCA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgacaagccgtcaAGATCGAGACCCGACGC chr6:17686960-Alternative-G;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Reference T taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GTAATCTGTCGA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgtaatctgtcgaAGATCGAGACCCGACGC chr6:17686960-Reference-T;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Reference T taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat AGCCTTGACTAA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAagccttgactaaAGATCGAGACCCGACGC chr6:17686960-Reference-T;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative G taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat ATATTCCGGTAC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAatattccggtacAGATCGAGACCCGACGC chr6:17686960-Alternative-G;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative A taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat CTGAACGACATT CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAActgaacgacattAGATCGAGACCCGACGC chr6:17686960-Alternative-A;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Reference T taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GATCCAATGCGA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgatccaatgcgaAGATCGAGACCCGACGC chr6:17686960-Reference-T;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative A taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat CTTGATCCGTGC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAActtgatccgtgcAGATCGAGACCCGACGC chr6:17686960-Alternative-A;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative A taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat AGGTAGTCATTC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagAttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAaggtagtcattcAGATCGAGACCCGACGC chr6:17686960-Alternative-A;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Reference T taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GACCGACGTATA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagTttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgaccgacgtataAGATCGAGACCCGACGC chr6:17686960-Reference-T;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Variant C taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat CACGGAACTAAC CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAcacggaactaacAGATCGAGACCCGACGC chr6:17686960-Variant-C;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Variant C taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat CATAGGCTAGCG CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAcataggctagcgAGATCGAGACCCGACGC chr6:17686960-Variant-C;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Variant C taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GCGACCGTCTAA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgcgaccgtctaaAGATCGAGACCCGACGC chr6:17686960-Variant-C;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative G taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat CATATAACTCGG CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAcatataactcggAGATCGAGACCCGACGC chr6:17686960-Alternative-G;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Variant C taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GTAGGACGAGCT CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgtaggacgagctAGATCGAGACCCGACGC chr6:17686960-Variant-C;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative G taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat ATAACGATTGCG CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAataacgattgcgAGATCGAGACCCGACGC chr6:17686960-Alternative-G;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Alternative G taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat ATAATGCGGCAA CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagGttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAataatgcggcaaAGATCGAGACCCGACGC chr6:17686960-Alternative-G;Patient-34 chr6:17686960-TC DeNovo Patient-34 intronic NUP153 NA 4.95e-05 -0.12 1.24 0.23 NUP153 20104 Variant C taaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacat GATTAATCGTCG CGACGCGGTCTCTCTCTtaaaagttaagaaaaaaaaacagtactatagaaaaaaaaaattttttaagCttttgaagtagatatcaaaatgctgcccacaacttgcttctaagtacatAGAGGGAGACGGACGTCTCAATAAgattaatcgtcgAGATCGAGACCCGACGC chr6:17686960-Variant-C;Patient-34 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Variant G gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CGTATGTTGCTT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAcgtatgttgcttAGATCGAGACCCGACGC chr6:18120591-Variant-G;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Variant G gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GATACCACCGCA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAgataccaccgcaAGATCGAGACCCGACGC chr6:18120591-Variant-G;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Reference A gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac AGGTGTAACGAT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAaggtgtaacgatAGATCGAGACCCGACGC chr6:18120591-Reference-A;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Variant G gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GGTTAAGGCGCA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAggttaaggcgcaAGATCGAGACCCGACGC chr6:18120591-Variant-G;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative T gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CTCATCTTATGG CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAActcatcttatggAGATCGAGACCCGACGC chr6:18120591-Alternative-T;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Reference A gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CTCATCGCGTTC CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAActcatcgcgttcAGATCGAGACCCGACGC chr6:18120591-Reference-A;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative T gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac ACCGGATCTAAT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAaccggatctaatAGATCGAGACCCGACGC chr6:18120591-Alternative-T;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative C gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac ACCTTCGGCCAT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAaccttcggccatAGATCGAGACCCGACGC chr6:18120591-Alternative-C;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Reference A gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac AAGCGTAATCGA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAaagcgtaatcgaAGATCGAGACCCGACGC chr6:18120591-Reference-A;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Variant G gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GACTACGTAACA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAgactacgtaacaAGATCGAGACCCGACGC chr6:18120591-Variant-G;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Reference A gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GGTTGTAGTATC CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAggttgtagtatcAGATCGAGACCCGACGC chr6:18120591-Reference-A;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative T gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CGCATGTAGTGT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAcgcatgtagtgtAGATCGAGACCCGACGC chr6:18120591-Alternative-T;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative T gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac ACGTCTGTTATC CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAacgtctgttatcAGATCGAGACCCGACGC chr6:18120591-Alternative-T;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Reference A gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac ACGCTACTGTAA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcAgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAacgctactgtaaAGATCGAGACCCGACGC chr6:18120591-Reference-A;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative C gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac AGAACGACGCGA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAagaacgacgcgaAGATCGAGACCCGACGC chr6:18120591-Alternative-C;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative T gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CAAGCGGTAGAT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcTgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAcaagcggtagatAGATCGAGACCCGACGC chr6:18120591-Alternative-T;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative C gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GGTCGGCATGTT CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAggtcggcatgttAGATCGAGACCCGACGC chr6:18120591-Alternative-C;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Variant G gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CTATACTAACGC CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcGgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAActatactaacgcAGATCGAGACCCGACGC chr6:18120591-Variant-G;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative C gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac GACTAGTCTCGG CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAgactagtctcggAGATCGAGACCCGACGC chr6:18120591-Alternative-C;Patient-32 chr6:18120591-AG DeNovo Patient-32 intergenic 3.3e-05 0.000101 -0.25 0.51 -6.08 KDM1B 35027 Alternative C gcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttac CAGGCTTGCTGA CGACGCGGTCTCTCTCTgcaaacaaacaaacgaaaaaaccccataaacatgtaacaggagcgtcatcCgccctttgacgctagtatgtagtgtgttctgcaatagtttagaacttacAGAGGGAGACGGACGTCTCAATAAcaggcttgctgaAGATCGAGACCCGACGC chr6:18120591-Alternative-C;Patient-32 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Reference G tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaact GGACGGAGAACT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAggacggagaactAGATCGAGACCCGACGC chr6:18186531-Reference-G;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Reference G tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaact CGCGAATATCTA CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAcgcgaatatctaAGATCGAGACCCGACGC chr6:18186531-Reference-G;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Reference G tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaact ACAACCGAACCT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAacaaccgaacctAGATCGAGACCCGACGC chr6:18186531-Reference-G;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Reference G tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaact GCGCATTGATGC CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgcgcattgatgcAGATCGAGACCCGACGC chr6:18186531-Reference-G;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Variant T tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaact GTAGTCACGCCT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgtagtcacgcctAGATCGAGACCCGACGC chr6:18186531-Variant-T;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Variant T tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaact GGCAATAGACCG CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAggcaatagaccgAGATCGAGACCCGACGC chr6:18186531-Variant-T;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Variant T tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaact ATCGGTGTCACG CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAatcggtgtcacgAGATCGAGACCCGACGC chr6:18186531-Variant-T;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Variant T tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaact GGATGCGGTGTT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAggatgcggtgttAGATCGAGACCCGACGC chr6:18186531-Variant-T;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Variant T tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaact GTTCGTATTGAG CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgTtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgttcgtattgagAGATCGAGACCCGACGC chr6:18186531-Variant-T;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Reference G tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaact GTACTCCTATGT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgGtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgtactcctatgtAGATCGAGACCCGACGC chr6:18186531-Reference-G;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative A tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaact CTTACGTCTTGA CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAActtacgtcttgaAGATCGAGACCCGACGC chr6:18186531-Alternative-A;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative A tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaact GGCTACATTCGG CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAggctacattcggAGATCGAGACCCGACGC chr6:18186531-Alternative-A;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative A tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaact AACGCAGATTGA CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAaacgcagattgaAGATCGAGACCCGACGC chr6:18186531-Alternative-A;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative C tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaact ACACCTATAGGT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAacacctataggtAGATCGAGACCCGACGC chr6:18186531-Alternative-C;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative A tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaact CTGAGTCAACAT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAActgagtcaacatAGATCGAGACCCGACGC chr6:18186531-Alternative-A;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative C tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaact GTTGTGTGGTAT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgttgtgtggtatAGATCGAGACCCGACGC chr6:18186531-Alternative-C;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative A tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaact CAGTAGGTTAGA CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgAtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAcagtaggttagaAGATCGAGACCCGACGC chr6:18186531-Alternative-A;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative C tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaact GGAGTAGCGGAT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAggagtagcggatAGATCGAGACCCGACGC chr6:18186531-Alternative-C;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative C tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaact CGCGTAACAGCA CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAcgcgtaacagcaAGATCGAGACCCGACGC chr6:18186531-Alternative-C;Patient-54 chr6:18186531-GT Inherited Patient-54 intronic KDM1B NA 4.95e-05 -0.14 1.11 -1.86 KDM1B 30911 Alternative C tcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaact GCGGAATCTCGT CGACGCGGTCTCTCTCTtcctcatgcagatatggcagggggagcagtacttccagctggcaaagctgCtcacatttcctctgttttcataagactttgctacctgagttgacaaactAGAGGGAGACGGACGTCTCAATAAgcggaatctcgtAGATCGAGACCCGACGC chr6:18186531-Alternative-C;Patient-54 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative C ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GCGAAGGACCTT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAgcgaaggaccttAGATCGAGACCCGACGC chr6:20468423-Alternative-C;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative C ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GTCATCACTGTT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAgtcatcactgttAGATCGAGACCCGACGC chr6:20468423-Alternative-C;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative C ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc AAGGCGTGGACA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAaaggcgtggacaAGATCGAGACCCGACGC chr6:20468423-Alternative-C;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative C ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CGCTGCATCACA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAcgctgcatcacaAGATCGAGACCCGACGC chr6:20468423-Alternative-C;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative A ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc ACACGGCGTTGT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAacacggcgttgtAGATCGAGACCCGACGC chr6:20468423-Alternative-A;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Variant T ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GGATGTGAACTA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAggatgtgaactaAGATCGAGACCCGACGC chr6:20468423-Variant-T;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative A ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CTTGAACGCGTT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAActtgaacgcgttAGATCGAGACCCGACGC chr6:20468423-Alternative-A;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Variant T ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CTACACGCGGAA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAActacacgcggaaAGATCGAGACCCGACGC chr6:20468423-Variant-T;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Variant T ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc ACGAATGTGCGG CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAacgaatgtgcggAGATCGAGACCCGACGC chr6:20468423-Variant-T;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Reference G ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc AGCTCTCACCGA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAagctctcaccgaAGATCGAGACCCGACGC chr6:20468423-Reference-G;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Reference G ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc AGAATGGTTCGT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAagaatggttcgtAGATCGAGACCCGACGC chr6:20468423-Reference-G;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Reference G ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc ACTCATACCGGC CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAactcataccggcAGATCGAGACCCGACGC chr6:20468423-Reference-G;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Variant T ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc AGTCGCAATACT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAagtcgcaatactAGATCGAGACCCGACGC chr6:20468423-Variant-T;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative A ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GGAGAATCTCGG CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAggagaatctcggAGATCGAGACCCGACGC chr6:20468423-Alternative-A;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Reference G ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CTTACGAACTGA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAActtacgaactgaAGATCGAGACCCGACGC chr6:20468423-Reference-G;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Variant T ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CAGACTACCGAC CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaTaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAcagactaccgacAGATCGAGACCCGACGC chr6:20468423-Variant-T;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative A ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GGACATATGCTT CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAggacatatgcttAGATCGAGACCCGACGC chr6:20468423-Alternative-A;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Reference G ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc CGCAAGCCAAGA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaGaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAcgcaagccaagaAGATCGAGACCCGACGC chr6:20468423-Reference-G;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative C ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GTTATCGTTAGG CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaCaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAgttatcgttaggAGATCGAGACCCGACGC chr6:20468423-Alternative-C;Patient-62 chr6:20468423-GT DeNovo Patient-62 intronic E2F3 0.000319 4.95e-05 -0.06 1.79 0.23 E2F3 66285 Alternative A ggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccaccccc GTACGTGAATGA CGACGCGGTCTCTCTCTggacactagctgggcgtcctccaattcaattctgacaccatctacccagaAaagtgtcacatcacacagattgagggttcagtctcacaagaccacccccAGAGGGAGACGGACGTCTCAATAAgtacgtgaatgaAGATCGAGACCCGACGC chr6:20468423-Alternative-A;Patient-62 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Variant G gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt ACTTGACCGGCA CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAacttgaccggcaAGATCGAGACCCGACGC chr6:20482822-Variant-G;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Variant G gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt AACGCTAATCGT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAaacgctaatcgtAGATCGAGACCCGACGC chr6:20482822-Variant-G;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative T gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CGCATGACCATA CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAcgcatgaccataAGATCGAGACCCGACGC chr6:20482822-Alternative-T;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Reference A gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GGTTCGACCGAA CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAggttcgaccgaaAGATCGAGACCCGACGC chr6:20482822-Reference-A;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Reference A gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GACGTCGGCATT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAgacgtcggcattAGATCGAGACCCGACGC chr6:20482822-Reference-A;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Reference A gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CTCAAGCTGTGG CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAActcaagctgtggAGATCGAGACCCGACGC chr6:20482822-Reference-A;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative T gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GATGTCGACGTC CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAgatgtcgacgtcAGATCGAGACCCGACGC chr6:20482822-Alternative-T;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Reference A gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CAGAGCGTTCCA CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAcagagcgttccaAGATCGAGACCCGACGC chr6:20482822-Reference-A;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative T gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CTCTTATGAGCT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAActcttatgagctAGATCGAGACCCGACGC chr6:20482822-Alternative-T;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative C gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CAGTAGATTGTC CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAcagtagattgtcAGATCGAGACCCGACGC chr6:20482822-Alternative-C;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative C gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GTCAGACTAACG CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAgtcagactaacgAGATCGAGACCCGACGC chr6:20482822-Alternative-C;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Reference A gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CAACCTAGTAGT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgAaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAcaacctagtagtAGATCGAGACCCGACGC chr6:20482822-Reference-A;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative T gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GTGTAGGCGTAC CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAgtgtaggcgtacAGATCGAGACCCGACGC chr6:20482822-Alternative-T;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative T gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt AGCAAGCAACGA CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgTaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAagcaagcaacgaAGATCGAGACCCGACGC chr6:20482822-Alternative-T;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative C gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CTTATGGTGGAT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAActtatggtggatAGATCGAGACCCGACGC chr6:20482822-Alternative-C;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative C gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GGTCGCAACTAT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAggtcgcaactatAGATCGAGACCCGACGC chr6:20482822-Alternative-C;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Variant G gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt CACGGTAGCGTT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAcacggtagcgttAGATCGAGACCCGACGC chr6:20482822-Variant-G;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Variant G gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GGTTACCGGCTT CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAggttaccggcttAGATCGAGACCCGACGC chr6:20482822-Variant-G;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Alternative C gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt GAGTGTTGAGCG CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgCaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAgagtgttgagcgAGATCGAGACCCGACGC chr6:20482822-Alternative-C;Patient-84 chr6:20482822-AG DeNovo Patient-84 intronic E2F3 NA 4.95e-05 -0.11 1.27 -3.63 E2F3 80684 Variant G gcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaatttt ACTAATGATCGG CGACGCGGTCTCTCTCTgcgctttcactaaatttctatgctgtgaaaagtgcagaactgtatttatgGaaaaaaaaatatatatatatatatatatatgtgtaaatgttctaattttAGAGGGAGACGGACGTCTCAATAAactaatgatcggAGATCGAGACCCGACGC chr6:20482822-Variant-G;Patient-84 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative C gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GTAAGCGCACGA CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgtaagcgcacgaAGATCGAGACCCGACGC chr6:24754650-Alternative-C;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative T gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg ATTGTTCGCTTC CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAattgttcgcttcAGATCGAGACCCGACGC chr6:24754650-Alternative-T;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Variant G gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg AACGCGGTGAGT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAaacgcggtgagtAGATCGAGACCCGACGC chr6:24754650-Variant-G;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative T gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg CATCATTGCGGC CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAcatcattgcggcAGATCGAGACCCGACGC chr6:24754650-Alternative-T;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Variant G gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg CATATACTCGCT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAcatatactcgctAGATCGAGACCCGACGC chr6:24754650-Variant-G;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Variant G gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg ACGCGCTGTGTT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAacgcgctgtgttAGATCGAGACCCGACGC chr6:24754650-Variant-G;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative T gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GCCAAGCAGTAC CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgccaagcagtacAGATCGAGACCCGACGC chr6:24754650-Alternative-T;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative T gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GAAGAGTTAACC CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgaagagttaaccAGATCGAGACCCGACGC chr6:24754650-Alternative-T;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Reference A gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GGCTCCATAGAT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAggctccatagatAGATCGAGACCCGACGC chr6:24754650-Reference-A;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative T gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg AAGACCAATACG CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctTttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAaagaccaatacgAGATCGAGACCCGACGC chr6:24754650-Alternative-T;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Reference A gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg CAGATGCTTGAT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAcagatgcttgatAGATCGAGACCCGACGC chr6:24754650-Reference-A;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Variant G gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg AGTCTCGACGGT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAagtctcgacggtAGATCGAGACCCGACGC chr6:24754650-Variant-G;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Reference A gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GCGTCTGATTAA CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgcgtctgattaaAGATCGAGACCCGACGC chr6:24754650-Reference-A;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative C gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg ATTATGCGTACC CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAattatgcgtaccAGATCGAGACCCGACGC chr6:24754650-Alternative-C;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative C gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GTATCGTAACGT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgtatcgtaacgtAGATCGAGACCCGACGC chr6:24754650-Alternative-C;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Reference A gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GATAAGTACGGT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgataagtacggtAGATCGAGACCCGACGC chr6:24754650-Reference-A;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Variant G gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg ATCCGATCAAGA CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctGttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAatccgatcaagaAGATCGAGACCCGACGC chr6:24754650-Variant-G;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative C gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg CTTGCATGTCAT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAActtgcatgtcatAGATCGAGACCCGACGC chr6:24754650-Alternative-C;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Reference A gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GCGCAATCGATT CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctAttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAgcgcaatcgattAGATCGAGACCCGACGC chr6:24754650-Reference-A;Patient-39 chr6:24754650-AG DeNovo Patient-39 intergenic NA 0.000512821 -0.13 1.15 -0.1 GMNN 20508 Alternative C gttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctg GGACTCGTATCA CGACGCGGTCTCTCTCTgttgtaaatttttatatgtattatctcgttgagttattcaaaagagctctCttaagtaggtattattcttaccaccttgtattggtctgttttcatgctgAGAGGGAGACGGACGTCTCAATAAggactcgtatcaAGATCGAGACCCGACGC chr6:24754650-Alternative-C;Patient-39 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Reference C caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGTCCGTTGGTT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgtccgttggttAGATCGAGACCCGACGC chr6:25633651-Reference-C;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative A caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag ACGTCTATGCGC CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAacgtctatgcgcAGATCGAGACCCGACGC chr6:25633651-Alternative-A;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative A caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GGATGACCAACG CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAggatgaccaacgAGATCGAGACCCGACGC chr6:25633651-Alternative-A;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative A caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GACTATTCGCGG CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgactattcgcggAGATCGAGACCCGACGC chr6:25633651-Alternative-A;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative A caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GACGTTCAAGTT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgacgttcaagttAGATCGAGACCCGACGC chr6:25633651-Alternative-A;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Reference C caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GTTCGTGCTCGT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgttcgtgctcgtAGATCGAGACCCGACGC chr6:25633651-Reference-C;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Reference C caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag ACAGCGAATAAC CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAacagcgaataacAGATCGAGACCCGACGC chr6:25633651-Reference-C;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative G caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGTATCAAGCAT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgtatcaagcatAGATCGAGACCCGACGC chr6:25633651-Alternative-G;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative A caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag AAGTGATCGGCG CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgAacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAaagtgatcggcgAGATCGAGACCCGACGC chr6:25633651-Alternative-A;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Variant T caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CAACAGTAAGGT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcaacagtaaggtAGATCGAGACCCGACGC chr6:25633651-Variant-T;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Reference C caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag AATCGACGTGAT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAaatcgacgtgatAGATCGAGACCCGACGC chr6:25633651-Reference-C;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Reference C caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GTTAGATCGAGT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgCacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgttagatcgagtAGATCGAGACCCGACGC chr6:25633651-Reference-C;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative G caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag AATCGTTCGTCA CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAaatcgttcgtcaAGATCGAGACCCGACGC chr6:25633651-Alternative-G;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Variant T caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGTCAGATCACA CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgtcagatcacaAGATCGAGACCCGACGC chr6:25633651-Variant-T;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative G caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGCGTGCATTCA CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgcgtgcattcaAGATCGAGACCCGACGC chr6:25633651-Alternative-G;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Variant T caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGAACTATCGAT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgaactatcgatAGATCGAGACCCGACGC chr6:25633651-Variant-T;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative G caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag AGGTAACGCAAG CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAaggtaacgcaagAGATCGAGACCCGACGC chr6:25633651-Alternative-G;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Alternative G caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag CGAGTTCACGAC CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgGacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAcgagttcacgacAGATCGAGACCCGACGC chr6:25633651-Alternative-G;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Variant T caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GCGAACTATAGA CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgcgaactatagaAGATCGAGACCCGACGC chr6:25633651-Variant-T;Patient-43 chr6:25633651-CT DeNovo Patient-43 intergenic NA 0.000513 -0.45 0.13 -0.32 HIST1H2AA 93138 Variant T caaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgag GATTACCAACGT CGACGCGGTCTCTCTCTcaaaatcccatttccacaaaaaataaaaattagccaggcatggtggtatgTacctgtagccccagctacttgggaggctgaggtgggaggatttcttgagAGAGGGAGACGGACGTCTCAATAAgattaccaacgtAGATCGAGACCCGACGC chr6:25633651-Variant-T;Patient-43 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative C gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CGTACGCCTGTT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcgtacgcctgttAGATCGAGACCCGACGC chr6:26100275-Alternative-C;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative C gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc GATGGTGATCGG CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAgatggtgatcggAGATCGAGACCCGACGC chr6:26100275-Alternative-C;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative T gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc GTGTTCGGCTGA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAgtgttcggctgaAGATCGAGACCCGACGC chr6:26100275-Alternative-T;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Variant A gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CTGTGGCGCAAT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAActgtggcgcaatAGATCGAGACCCGACGC chr6:26100275-Variant-A;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Reference G gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc ACCTGGCTACCT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAacctggctacctAGATCGAGACCCGACGC chr6:26100275-Reference-G;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative T gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc ACTCCGTTAGAA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAactccgttagaaAGATCGAGACCCGACGC chr6:26100275-Alternative-T;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Reference G gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CGAGAGCAGTAC CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcgagagcagtacAGATCGAGACCCGACGC chr6:26100275-Reference-G;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative T gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc GTCTAGCAGTTA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAgtctagcagttaAGATCGAGACCCGACGC chr6:26100275-Alternative-T;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative C gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CGGTAGGTATGC CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcggtaggtatgcAGATCGAGACCCGACGC chr6:26100275-Alternative-C;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Variant A gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc AAGTGACGCTTC CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAaagtgacgcttcAGATCGAGACCCGACGC chr6:26100275-Variant-A;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Reference G gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc AAGAACGAGTCT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAaagaacgagtctAGATCGAGACCCGACGC chr6:26100275-Reference-G;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative T gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc ACGTCCTTCTAA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAacgtccttctaaAGATCGAGACCCGACGC chr6:26100275-Alternative-T;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Variant A gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc ATTCGGACTACA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAattcggactacaAGATCGAGACCCGACGC chr6:26100275-Variant-A;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Reference G gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CAGATAACGGCG CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcagataacggcgAGATCGAGACCCGACGC chr6:26100275-Reference-G;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Variant A gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CGAATGCGACCT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcgaatgcgacctAGATCGAGACCCGACGC chr6:26100275-Variant-A;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Reference G gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CGTATATCGGAT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcGtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcgtatatcggatAGATCGAGACCCGACGC chr6:26100275-Reference-G;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative C gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc AAGCAACCTAAG CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAaagcaacctaagAGATCGAGACCCGACGC chr6:26100275-Alternative-C;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative C gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc ACTCGTAGTAGT CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcCtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAactcgtagtagtAGATCGAGACCCGACGC chr6:26100275-Alternative-C;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Alternative T gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc CAGTAGCGTATA CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcTtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAcagtagcgtataAGATCGAGACCCGACGC chr6:26100275-Alternative-T;Patient-101 chr6:26100275-GA DeNovo Patient-101 intergenic NA 0.000512821 0.02 2.9 0.49 HIST1H4C 3900 Variant A gagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagc AGATATGCTGAG CGACGCGGTCTCTCTCTgagacagggtttcatcattttggtcaggctggtcttgaactcctgacctcAtgatcagcctgcctcgacctcccaaagtgctgggattacagtcatgagcAGAGGGAGACGGACGTCTCAATAAagatatgctgagAGATCGAGACCCGACGC chr6:26100275-Variant-A;Patient-101 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Variant A ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GCAGTCAACGAG CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgcagtcaacgagAGATCGAGACCCGACGC chr6:27198330-Variant-A;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Reference C ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat ATCCGTAAGCGG CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAatccgtaagcggAGATCGAGACCCGACGC chr6:27198330-Reference-C;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Reference C ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GGACCGTATGCT CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAggaccgtatgctAGATCGAGACCCGACGC chr6:27198330-Reference-C;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative G ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat AGATCGACCAAG CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAagatcgaccaagAGATCGAGACCCGACGC chr6:27198330-Alternative-G;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Reference C ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat CACAACCGTATC CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAcacaaccgtatcAGATCGAGACCCGACGC chr6:27198330-Reference-C;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Reference C ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GCACGAATCGAA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgcacgaatcgaaAGATCGAGACCCGACGC chr6:27198330-Reference-C;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative T ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GTCATAACAACG CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgtcataacaacgAGATCGAGACCCGACGC chr6:27198330-Alternative-T;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Reference C ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat CGCTCTATCCGT CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaCgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAcgctctatccgtAGATCGAGACCCGACGC chr6:27198330-Reference-C;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative G ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat CATGAATCCGAC CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAcatgaatccgacAGATCGAGACCCGACGC chr6:27198330-Alternative-G;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative T ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat CATTGGTTAGCA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAcattggttagcaAGATCGAGACCCGACGC chr6:27198330-Alternative-T;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative T ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat ACCGGTGTTCGT CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAaccggtgttcgtAGATCGAGACCCGACGC chr6:27198330-Alternative-T;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Variant A ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat AGTCGAAGTAAC CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAagtcgaagtaacAGATCGAGACCCGACGC chr6:27198330-Variant-A;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Variant A ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat CGAGTCGAGAGT CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAcgagtcgagagtAGATCGAGACCCGACGC chr6:27198330-Variant-A;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative T ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GATAGTAGTACG CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgatagtagtacgAGATCGAGACCCGACGC chr6:27198330-Alternative-T;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative T ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat AGGTACCGTGCT CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaTgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAaggtaccgtgctAGATCGAGACCCGACGC chr6:27198330-Alternative-T;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative G ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat ACGATGCCTCGA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAacgatgcctcgaAGATCGAGACCCGACGC chr6:27198330-Alternative-G;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Variant A ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat ACGGTGCCGTAA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAacggtgccgtaaAGATCGAGACCCGACGC chr6:27198330-Variant-A;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Variant A ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat ACACGTCAGCTA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaAgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAacacgtcagctaAGATCGAGACCCGACGC chr6:27198330-Variant-A;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative G ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GCGATAGCAAGA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgcgatagcaagaAGATCGAGACCCGACGC chr6:27198330-Alternative-G;Patient-43 chr6:27198330-CA DeNovo Patient-43 intergenic NA 0.00016 -0.57 0.05 -2.05 HIST1H2AH 83468 Alternative G ctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggat GTGTAACGTTCA CGACGCGGTCTCTCTCTctggcttccaactctgcggcagaaaccgcaaacgtcaaagtacacaccaaGgcttaccgggagtggggctcgaacccacgcggacacctgtccattggatAGAGGGAGACGGACGTCTCAATAAgtgtaacgttcaAGATCGAGACCCGACGC chr6:27198330-Alternative-G;Patient-43 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Variant G aatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttggg CTGTTCGATCAT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAActgttcgatcatAGATCGAGACCCGACGC chr6:27799867-Variant-G;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Variant G aatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttggg CAGGTGTATCAT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAcaggtgtatcatAGATCGAGACCCGACGC chr6:27799867-Variant-G;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative T aatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttggg ACACCGTATCGC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAacaccgtatcgcAGATCGAGACCCGACGC chr6:27799867-Alternative-T;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Variant G aatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttggg AGTGCTCGGCAT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAagtgctcggcatAGATCGAGACCCGACGC chr6:27799867-Variant-G;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative T aatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttggg CTTGGTCGCAGA CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAActtggtcgcagaAGATCGAGACCCGACGC chr6:27799867-Alternative-T;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative T aatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttggg CTAACGCAAGCG CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAActaacgcaagcgAGATCGAGACCCGACGC chr6:27799867-Alternative-T;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Variant G aatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttggg CGTAGATGCGTC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAcgtagatgcgtcAGATCGAGACCCGACGC chr6:27799867-Variant-G;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative T aatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttggg GATGCTCCTAAT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAgatgctcctaatAGATCGAGACCCGACGC chr6:27799867-Alternative-T;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative C aatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttggg GTGTATCATGGT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAgtgtatcatggtAGATCGAGACCCGACGC chr6:27799867-Alternative-C;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative T aatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttggg CTCTAGGTCGTC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaTataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAActctaggtcgtcAGATCGAGACCCGACGC chr6:27799867-Alternative-T;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Variant G aatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttggg ATAGGATTGGAC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaGataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAataggattggacAGATCGAGACCCGACGC chr6:27799867-Variant-G;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative C aatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttggg ACAATAGTCGTC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAacaatagtcgtcAGATCGAGACCCGACGC chr6:27799867-Alternative-C;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative C aatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttggg ATAGTACACAGG CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAatagtacacaggAGATCGAGACCCGACGC chr6:27799867-Alternative-C;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative C aatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttggg AGATACTGCCGG CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAagatactgccggAGATCGAGACCCGACGC chr6:27799867-Alternative-C;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Alternative C aatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttggg ACGGTAGATAAC CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaCataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAacggtagataacAGATCGAGACCCGACGC chr6:27799867-Alternative-C;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Reference A aatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttggg CATAGGCCGCAT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAcataggccgcatAGATCGAGACCCGACGC chr6:27799867-Reference-A;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Reference A aatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttggg ATAGCGCGATCG CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAatagcgcgatcgAGATCGAGACCCGACGC chr6:27799867-Reference-A;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Reference A aatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttggg CAGATCGACCTA CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAcagatcgacctaAGATCGAGACCCGACGC chr6:27799867-Reference-A;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Reference A aatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttggg GTCTAGTGCCGT CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAgtctagtgccgtAGATCGAGACCCGACGC chr6:27799867-Reference-A;Patient-12 chr6:27799867-AG DeNovo Patient-12 intergenic 0.000732 0.000513 NA NA NA HIST1H1B 35491 Reference A aatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttggg CATCTAACATCG CGACGCGGTCTCTCTCTaatagttataatcagttccccagcaattttttaatcggctgtattttaaaAataatgttttccacattcaacataaatgtactttttctctatacttgggAGAGGGAGACGGACGTCTCAATAAcatctaacatcgAGATCGAGACCCGACGC chr6:27799867-Reference-A;Patient-12 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative T tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ACTACGGCGAAC CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAactacggcgaacAGATCGAGACCCGACGC chr6:27802660-Alternative-T;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Reference G tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact CGCGTATAAGCG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAcgcgtataagcgAGATCGAGACCCGACGC chr6:27802660-Reference-G;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative T tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ACTGTTCGCAGA CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAactgttcgcagaAGATCGAGACCCGACGC chr6:27802660-Alternative-T;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Reference G tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact CAACGAATCACG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAcaacgaatcacgAGATCGAGACCCGACGC chr6:27802660-Reference-G;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Reference G tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GTAACGCATCAG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAgtaacgcatcagAGATCGAGACCCGACGC chr6:27802660-Reference-G;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Reference G tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ATCGAATCGAGT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAatcgaatcgagtAGATCGAGACCCGACGC chr6:27802660-Reference-G;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative T tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact CGTGTTAGCAAG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAcgtgttagcaagAGATCGAGACCCGACGC chr6:27802660-Alternative-T;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative T tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GGCGGCAATCTT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAggcggcaatcttAGATCGAGACCCGACGC chr6:27802660-Alternative-T;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Reference G tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ACATAAGTGCGA CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcGgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAacataagtgcgaAGATCGAGACCCGACGC chr6:27802660-Reference-G;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Variant A tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GGCGGCATTGTT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAggcggcattgttAGATCGAGACCCGACGC chr6:27802660-Variant-A;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Variant A tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact CGGCATACGTTA CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAcggcatacgttaAGATCGAGACCCGACGC chr6:27802660-Variant-A;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative T tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact CGATAAGCGATA CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcTgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAcgataagcgataAGATCGAGACCCGACGC chr6:27802660-Alternative-T;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative C tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GGTTATCCGAAT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAggttatccgaatAGATCGAGACCCGACGC chr6:27802660-Alternative-C;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Variant A tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GTCGTATGACGC CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAgtcgtatgacgcAGATCGAGACCCGACGC chr6:27802660-Variant-A;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative C tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GCGTAATAACGT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAgcgtaataacgtAGATCGAGACCCGACGC chr6:27802660-Alternative-C;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Variant A tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ACGAAGCTTAGT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAacgaagcttagtAGATCGAGACCCGACGC chr6:27802660-Variant-A;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative C tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GCGGCTGATGTT CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAgcggctgatgttAGATCGAGACCCGACGC chr6:27802660-Alternative-C;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative C tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GGTTAACCGTTA CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAggttaaccgttaAGATCGAGACCCGACGC chr6:27802660-Alternative-C;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Variant A tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact GATCAAGCTGCG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcAgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAgatcaagctgcgAGATCGAGACCCGACGC chr6:27802660-Variant-A;Patient-69 chr6:27802660-GA DeNovo Patient-69 intergenic 0.000351 0.002051282 -0.01 2.52 0.16 HIST1H2BM 19837 Alternative C tagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaact ACACTATCAGCG CGACGCGGTCTCTCTCTtagttaatttaaataacaaatatttatttttagtacatattgtcaatgtcCgggctcagaaaccaataccccaaactatggcatggtgacaagctgaactAGAGGGAGACGGACGTCTCAATAAacactatcagcgAGATCGAGACCCGACGC chr6:27802660-Alternative-C;Patient-69 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative A taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CTGTTCGTCCGA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAActgttcgtccgaAGATCGAGACCCGACGC chr6:27852329-Alternative-A;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Reference C taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa AGCATTGGATGT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAagcattggatgtAGATCGAGACCCGACGC chr6:27852329-Reference-C;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Reference C taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CAAGCGTGTGGT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAcaagcgtgtggtAGATCGAGACCCGACGC chr6:27852329-Reference-C;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Reference C taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GGCTTAAGGCCA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAggcttaaggccaAGATCGAGACCCGACGC chr6:27852329-Reference-C;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative A taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GTGACTTAACAG CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgtgacttaacagAGATCGAGACCCGACGC chr6:27852329-Alternative-A;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Reference C taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa AATGTCGTAAGG CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAaatgtcgtaaggAGATCGAGACCCGACGC chr6:27852329-Reference-C;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Reference C taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GATAGCTGTGTT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaCaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgatagctgtgttAGATCGAGACCCGACGC chr6:27852329-Reference-C;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative A taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GCGCGTATTCGA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgcgcgtattcgaAGATCGAGACCCGACGC chr6:27852329-Alternative-A;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative A taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CAAGATCGCGCT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAcaagatcgcgctAGATCGAGACCCGACGC chr6:27852329-Alternative-A;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Variant G taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CAAGCTATACGT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAcaagctatacgtAGATCGAGACCCGACGC chr6:27852329-Variant-G;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Variant G taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GGCGACTGCATT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAggcgactgcattAGATCGAGACCCGACGC chr6:27852329-Variant-G;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative A taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa ACATCTAACGCA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaAaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAacatctaacgcaAGATCGAGACCCGACGC chr6:27852329-Alternative-A;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative T taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CACAACGTGTTA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAcacaacgtgttaAGATCGAGACCCGACGC chr6:27852329-Alternative-T;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative T taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GGTGGTATCGAG CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAggtggtatcgagAGATCGAGACCCGACGC chr6:27852329-Alternative-T;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Variant G taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa ACGCGGTTGAGT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAacgcggttgagtAGATCGAGACCCGACGC chr6:27852329-Variant-G;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Variant G taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa CGTGTGCGATAC CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAcgtgtgcgatacAGATCGAGACCCGACGC chr6:27852329-Variant-G;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative T taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GTAACCTTCCAT CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgtaaccttccatAGATCGAGACCCGACGC chr6:27852329-Alternative-T;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative T taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GACATCGTTCGG CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgacatcgttcggAGATCGAGACCCGACGC chr6:27852329-Alternative-T;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Alternative T taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa ACAAGCAAGCGG CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaTaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAacaagcaagcggAGATCGAGACCCGACGC chr6:27852329-Alternative-T;Patient-90 chr6:27852329-CG DeNovo Patient-90 intergenic NA 0.000512821 -0.19 0.74 0.13 HIST1H2BO 8873 Variant G taagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaa GTATCCGCCTAA CGACGCGGTCTCTCTCTtaagctagaaaaaggttacagaaagaatgagggcttgggtcatagctaaaGaagttaccggcgggttgtgagaagagggattctgttgaggagcaataaaAGAGGGAGACGGACGTCTCAATAAgtatccgcctaaAGATCGAGACCCGACGC chr6:27852329-Variant-G;Patient-90 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Reference A ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GGTTCTGCTACC CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAggttctgctaccAGATCGAGACCCGACGC chr6:29558547-Reference-A;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative C ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CAACGGTATCTA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcaacggtatctaAGATCGAGACCCGACGC chr6:29558547-Alternative-C;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative G ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GAGATCGTCGAG CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgagatcgtcgagAGATCGAGACCCGACGC chr6:29558547-Alternative-G;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Variant T ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GTTACTCCTAGT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgttactcctagtAGATCGAGACCCGACGC chr6:29558547-Variant-T;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative C ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt ACCTAATGGCTT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAacctaatggcttAGATCGAGACCCGACGC chr6:29558547-Alternative-C;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Reference A ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CAGGATCGATAA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcaggatcgataaAGATCGAGACCCGACGC chr6:29558547-Reference-A;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Reference A ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GAGTTATCCGCA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgagttatccgcaAGATCGAGACCCGACGC chr6:29558547-Reference-A;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Variant T ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GTGTTGAGCTAA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgtgttgagctaaAGATCGAGACCCGACGC chr6:29558547-Variant-T;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Reference A ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CTGTTCGCAGTC CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAActgttcgcagtcAGATCGAGACCCGACGC chr6:29558547-Reference-A;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative G ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CAAGTCCGCGTT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcaagtccgcgttAGATCGAGACCCGACGC chr6:29558547-Alternative-G;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Variant T ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CGAACCGATGAG CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcgaaccgatgagAGATCGAGACCCGACGC chr6:29558547-Variant-T;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Reference A ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CGTTCGTCACGT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataAgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcgttcgtcacgtAGATCGAGACCCGACGC chr6:29558547-Reference-A;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative G ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt AGCGTATGGTTA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAagcgtatggttaAGATCGAGACCCGACGC chr6:29558547-Alternative-G;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative G ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GCGTGTGGTCTA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgcgtgtggtctaAGATCGAGACCCGACGC chr6:29558547-Alternative-G;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative C ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt AAGTGCGCAGTC CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAaagtgcgcagtcAGATCGAGACCCGACGC chr6:29558547-Alternative-C;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative G ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GTCGTAGAATGA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataGgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAgtcgtagaatgaAGATCGAGACCCGACGC chr6:29558547-Alternative-G;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Variant T ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt GGCTTGACATAT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAggcttgacatatAGATCGAGACCCGACGC chr6:29558547-Variant-T;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative C ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CATCGACGATAT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcatcgacgatatAGATCGAGACCCGACGC chr6:29558547-Alternative-C;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Variant T ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt AGCATTGGCGCT CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataTgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAagcattggcgctAGATCGAGACCCGACGC chr6:29558547-Variant-T;Patient-25 chr6:29558547-AT DeNovo Patient-25 intergenic NA 0.000513 -0.05 1.97 0.4 ZFP57 86383 Alternative C ggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgattt CAACAACCGTCA CGACGCGGTCTCTCTCTggcaagggcagcaataccaaattcccttttgagtacacgccgataaaataCgaaaaaggaaaatcttagttttatttctagttccaacataaaatgatttAGAGGGAGACGGACGTCTCAATAAcaacaaccgtcaAGATCGAGACCCGACGC chr6:29558547-Alternative-C;Patient-25 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Variant G gttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GCGTCGCGTATT CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAgcgtcgcgtattAGATCGAGACCCGACGC chr6:29840863-Variant-G;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative T gttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GTAGATGTGACA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAgtagatgtgacaAGATCGAGACCCGACGC chr6:29840863-Alternative-T;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Variant G gttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CGACGGAAGACT CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAcgacggaagactAGATCGAGACCCGACGC chr6:29840863-Variant-G;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Reference A gttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag AGTTATGCCAAG CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAagttatgccaagAGATCGAGACCCGACGC chr6:29840863-Reference-A;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Reference A gttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GTAACGCAGAAG CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAgtaacgcagaagAGATCGAGACCCGACGC chr6:29840863-Reference-A;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Variant G gttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag ATCGATTGCGAC CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAatcgattgcgacAGATCGAGACCCGACGC chr6:29840863-Variant-G;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Variant G gttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag AGCTTCGCTAAC CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAagcttcgctaacAGATCGAGACCCGACGC chr6:29840863-Variant-G;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative T gttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GACGGTGGACTA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAgacggtggactaAGATCGAGACCCGACGC chr6:29840863-Alternative-T;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Reference A gttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CATGTTAGTTCG CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAcatgttagttcgAGATCGAGACCCGACGC chr6:29840863-Reference-A;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Reference A gttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GGACATAGACCG CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAggacatagaccgAGATCGAGACCCGACGC chr6:29840863-Reference-A;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Reference A gttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag AGTCTATGCCAA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaAggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAagtctatgccaaAGATCGAGACCCGACGC chr6:29840863-Reference-A;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative C gttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag ACCGGTTACAAT CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAaccggttacaatAGATCGAGACCCGACGC chr6:29840863-Alternative-C;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Variant G gttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag AAGCGTCCGGAA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaGggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAaagcgtccggaaAGATCGAGACCCGACGC chr6:29840863-Variant-G;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative C gttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag ATCGTGAGGTTA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAatcgtgaggttaAGATCGAGACCCGACGC chr6:29840863-Alternative-C;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative C gttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CTGCGCAGCTAA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAActgcgcagctaaAGATCGAGACCCGACGC chr6:29840863-Alternative-C;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative T gttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CATTACACGTGA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAcattacacgtgaAGATCGAGACCCGACGC chr6:29840863-Alternative-T;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative T gttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CTGTCGCATATT CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAActgtcgcatattAGATCGAGACCCGACGC chr6:29840863-Alternative-T;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative C gttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag GTTGTGGACTTA CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAgttgtggacttaAGATCGAGACCCGACGC chr6:29840863-Alternative-C;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative C gttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag CAGCGGACATTC CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaCggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAcagcggacattcAGATCGAGACCCGACGC chr6:29840863-Alternative-C;Patient-65 chr6:29840863-AG Inherited Patient-65 intergenic NA 0.000513 0.17 5.34 -0.54 HLA-A 69383 Alternative T gttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggag ATAGCTCGCGTT CGACGCGGTCTCTCTCTgttccactaatcctatcaccatctggaccatccagaggctgccagccacaTggaatgctggacaggtcttctacaggcaaaactcagtgccagcctggagAGAGGGAGACGGACGTCTCAATAAatagctcgcgttAGATCGAGACCCGACGC chr6:29840863-Alternative-T;Patient-65 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative G caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatata GCGTGCACAGAT CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgcgtgcacagatAGATCGAGACCCGACGC chr6:29936636-Alternative-G;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative G caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatata GATCATGCGTCC CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgatcatgcgtccAGATCGAGACCCGACGC chr6:29936636-Alternative-G;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative G caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatata CGTAATAGCCGC CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAcgtaatagccgcAGATCGAGACCCGACGC chr6:29936636-Alternative-G;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative G caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatata GGCACGCTAATT CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAggcacgctaattAGATCGAGACCCGACGC chr6:29936636-Alternative-G;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Variant T caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatata CTAGGCTCGCTA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAActaggctcgctaAGATCGAGACCCGACGC chr6:29936636-Variant-T;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Variant T caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatata ACCTCCGATCTT CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAacctccgatcttAGATCGAGACCCGACGC chr6:29936636-Variant-T;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative G caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatata ACGACGATGTGG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaGacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAacgacgatgtggAGATCGAGACCCGACGC chr6:29936636-Alternative-G;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative A caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatata CGAAGCTGCGAA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAcgaagctgcgaaAGATCGAGACCCGACGC chr6:29936636-Alternative-A;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Variant T caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatata AGATAACAACCG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAagataacaaccgAGATCGAGACCCGACGC chr6:29936636-Variant-T;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Variant T caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatata GAGCATTGTAAC CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgagcattgtaacAGATCGAGACCCGACGC chr6:29936636-Variant-T;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Variant T caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatata GTCAATAGCGTT CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaTacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgtcaatagcgttAGATCGAGACCCGACGC chr6:29936636-Variant-T;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative A caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatata AGTCAATCACGT CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAagtcaatcacgtAGATCGAGACCCGACGC chr6:29936636-Alternative-A;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Reference C caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatata AGCATCCGCAAG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAagcatccgcaagAGATCGAGACCCGACGC chr6:29936636-Reference-C;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative A caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatata ATCTGTCTATCG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAatctgtctatcgAGATCGAGACCCGACGC chr6:29936636-Alternative-A;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative A caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatata AGATGCTATCCA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAagatgctatccaAGATCGAGACCCGACGC chr6:29936636-Alternative-A;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Reference C caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatata GGATCTTGTGCG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAggatcttgtgcgAGATCGAGACCCGACGC chr6:29936636-Reference-C;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Alternative A caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatata GGCTATTAAGCA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaAacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAggctattaagcaAGATCGAGACCCGACGC chr6:29936636-Alternative-A;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Reference C caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatata GAGGTTATTGAG CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgaggttattgagAGATCGAGACCCGACGC chr6:29936636-Reference-C;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Reference C caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatata GTAACGCTAGAA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAgtaacgctagaaAGATCGAGACCCGACGC chr6:29936636-Reference-C;Patient-110 chr6:29936636-CT DeNovo Patient-110 intergenic NA 3.98e-05 0.14 4.94 0 HLA-A 26388 Reference C caatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatata AACACTTCGCTA CGACGCGGTCTCTCTCTcaatttattttaacccatatataatgtgtgtgtgtatatatatatacacaCacacacacacaaacatatacatatacatatatatacacacacatatataAGAGGGAGACGGACGTCTCAATAAaacacttcgctaAGATCGAGACCCGACGC chr6:29936636-Reference-C;Patient-110 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Variant C ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GCGAAGTATCGC CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgcgaagtatcgcAGATCGAGACCCGACGC chr6:3081488-Variant-C;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Reference G ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GAGATGGTCATA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgagatggtcataAGATCGAGACCCGACGC chr6:3081488-Reference-G;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Reference G ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga AGACGAGCTACA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAagacgagctacaAGATCGAGACCCGACGC chr6:3081488-Reference-G;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative T ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GTTCTGTCTTCT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgttctgtcttctAGATCGAGACCCGACGC chr6:3081488-Alternative-T;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Reference G ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga AGGACTCTTAGT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAaggactcttagtAGATCGAGACCCGACGC chr6:3081488-Reference-G;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative T ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga CTGCGGATTGAC CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAActgcggattgacAGATCGAGACCCGACGC chr6:3081488-Alternative-T;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative T ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GATCGGACTTCG CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgatcggacttcgAGATCGAGACCCGACGC chr6:3081488-Alternative-T;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative T ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga AGCTAGCGTATT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAagctagcgtattAGATCGAGACCCGACGC chr6:3081488-Alternative-T;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Variant C ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga ACCGACCGAGAA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAaccgaccgagaaAGATCGAGACCCGACGC chr6:3081488-Variant-C;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Variant C ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga AAGCGCATCAAG CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAaagcgcatcaagAGATCGAGACCCGACGC chr6:3081488-Variant-C;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative A ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga CAGTCGCCTATC CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAcagtcgcctatcAGATCGAGACCCGACGC chr6:3081488-Alternative-A;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative A ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GTGGCGTAACAC CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgtggcgtaacacAGATCGAGACCCGACGC chr6:3081488-Alternative-A;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative T ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GATGCAGCAATC CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagTctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgatgcagcaatcAGATCGAGACCCGACGC chr6:3081488-Alternative-T;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Variant C ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GCATGCGGATCA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgcatgcggatcaAGATCGAGACCCGACGC chr6:3081488-Variant-C;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative A ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga CGGACTGCATGA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAcggactgcatgaAGATCGAGACCCGACGC chr6:3081488-Alternative-A;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Reference G ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GCGCTAGAACGT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgcgctagaacgtAGATCGAGACCCGACGC chr6:3081488-Reference-G;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Variant C ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga ATCTGTCTTGGT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagCctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAatctgtcttggtAGATCGAGACCCGACGC chr6:3081488-Variant-C;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative A ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga CGGCGTTGCTAA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAcggcgttgctaaAGATCGAGACCCGACGC chr6:3081488-Alternative-A;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Reference G ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga CTCATCAAGCTA CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagGctctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAActcatcaagctaAGATCGAGACCCGACGC chr6:3081488-Reference-G;Patient-15 chr6:3081488-GC DeNovo Patient-15 intronic RIPK1 9.6e-05 0.000484 -0.05 1.94 0.59 RIPK1 4429 Alternative A ctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggaga GACCGCTGATGT CGACGCGGTCTCTCTCTctaaaggaagacctagctcagcttataactgttgatgatggtgccgaaagActctaccggtgattgagaggaaggctgcaggcttgatgggatcaggagaAGAGGGAGACGGACGTCTCAATAAgaccgctgatgtAGATCGAGACCCGACGC chr6:3081488-Alternative-A;Patient-15 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative T ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GGCTATTCGCAG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAggctattcgcagAGATCGAGACCCGACGC chr6:3094374-Alternative-T;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative T ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GATCGCAGTCGT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgatcgcagtcgtAGATCGAGACCCGACGC chr6:3094374-Alternative-T;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative T ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GAGCAGCAACCA CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgagcagcaaccaAGATCGAGACCCGACGC chr6:3094374-Alternative-T;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative G ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc CTGTCGTTCAAT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAActgtcgttcaatAGATCGAGACCCGACGC chr6:3094374-Alternative-G;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative T ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc ACAGCGACGTCT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAacagcgacgtctAGATCGAGACCCGACGC chr6:3094374-Alternative-T;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative T ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc AGTAGTCGGATA CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagTgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAagtagtcggataAGATCGAGACCCGACGC chr6:3094374-Alternative-T;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative G ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc AAGGCTAATGAG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAaaggctaatgagAGATCGAGACCCGACGC chr6:3094374-Alternative-G;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative G ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GTACCGTTCGAG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgtaccgttcgagAGATCGAGACCCGACGC chr6:3094374-Alternative-G;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative G ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GATGGACCATAA CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgatggaccataaAGATCGAGACCCGACGC chr6:3094374-Alternative-G;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Variant C ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GGCAAGCAATCG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAggcaagcaatcgAGATCGAGACCCGACGC chr6:3094374-Variant-C;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Alternative G ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc ACGGTAGCAGGT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagGgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAacggtagcaggtAGATCGAGACCCGACGC chr6:3094374-Alternative-G;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Reference A ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc CTTAGGCTTACA CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAActtaggcttacaAGATCGAGACCCGACGC chr6:3094374-Reference-A;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Reference A ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc CACGATAGTCAT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAcacgatagtcatAGATCGAGACCCGACGC chr6:3094374-Reference-A;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Reference A ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GCGAGAATATAC CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgcgagaatatacAGATCGAGACCCGACGC chr6:3094374-Reference-A;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Reference A ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GTGTTGATGGTT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAgtgttgatggttAGATCGAGACCCGACGC chr6:3094374-Reference-A;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Reference A ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc GGTTGACCGTGT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagAgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAggttgaccgtgtAGATCGAGACCCGACGC chr6:3094374-Reference-A;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Variant C ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc AACTCAAGCGAG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAaactcaagcgagAGATCGAGACCCGACGC chr6:3094374-Variant-C;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Variant C ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc CAGTTGGTGATT CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAcagttggtgattAGATCGAGACCCGACGC chr6:3094374-Variant-C;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Variant C ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc ACCTGGACGCTA CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAacctggacgctaAGATCGAGACCCGACGC chr6:3094374-Variant-C;Patient-55 chr6:3094374-AC DeNovo Patient-55 intronic RIPK1 0.000273 0.00119 -0.2 0.74 0 RIPK1 17315 Variant C ctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcacc ACTGCGCTTACG CGACGCGGTCTCTCTCTctgcacctagtaactgcagagtacctacctgccgcacctagtaactgcagCgtacctacctgccgcacctagtaactgtagcgtacctacctgctgcaccAGAGGGAGACGGACGTCTCAATAAactgcgcttacgAGATCGAGACCCGACGC chr6:3094374-Variant-C;Patient-55 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative C ttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctc CGCTTATATTCG CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAcgcttatattcgAGATCGAGACCCGACGC chr6:31278748-Alternative-C;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative C ttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctc GTCGAAGATAAC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgtcgaagataacAGATCGAGACCCGACGC chr6:31278748-Alternative-C;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Variant T ttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctc GATTACGGCGAG CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgattacggcgagAGATCGAGACCCGACGC chr6:31278748-Variant-T;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Variant T ttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctc CTCTAACCTTCT CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAActctaaccttctAGATCGAGACCCGACGC chr6:31278748-Variant-T;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Variant T ttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctc ATTGTTGCGAAG CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAattgttgcgaagAGATCGAGACCCGACGC chr6:31278748-Variant-T;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Reference A ttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctc CTGCGTGTGTTC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAActgcgtgtgttcAGATCGAGACCCGACGC chr6:31278748-Reference-A;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Reference A ttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctc AATACCGTGCAT CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAaataccgtgcatAGATCGAGACCCGACGC chr6:31278748-Reference-A;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Reference A ttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctc CGACGTTCAGCA CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAcgacgttcagcaAGATCGAGACCCGACGC chr6:31278748-Reference-A;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Variant T ttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctc CGCTCTTAAGTT CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAcgctcttaagttAGATCGAGACCCGACGC chr6:31278748-Variant-T;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Reference A ttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctc GTTCGCAACGAC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgttcgcaacgacAGATCGAGACCCGACGC chr6:31278748-Reference-A;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative C ttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctc AGACCAATAGCA CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAagaccaatagcaAGATCGAGACCCGACGC chr6:31278748-Alternative-C;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative G ttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctc AGTTACGGTAGA CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAagttacggtagaAGATCGAGACCCGACGC chr6:31278748-Alternative-G;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative G ttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctc GAGTATCCGGAC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgagtatccggacAGATCGAGACCCGACGC chr6:31278748-Alternative-G;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative C ttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctc GTATCCGCGTTC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgtatccgcgttcAGATCGAGACCCGACGC chr6:31278748-Alternative-C;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative C ttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctc AGAACGACGAGT CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatCtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAagaacgacgagtAGATCGAGACCCGACGC chr6:31278748-Alternative-C;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Reference A ttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctc ACCTCAATTCAC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatAtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAacctcaattcacAGATCGAGACCCGACGC chr6:31278748-Reference-A;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Variant T ttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctc GTTCGAACGTGC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatTtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAgttcgaacgtgcAGATCGAGACCCGACGC chr6:31278748-Variant-T;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative G ttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctc ACCGTTGGATCG CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAaccgttggatcgAGATCGAGACCCGACGC chr6:31278748-Alternative-G;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative G ttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctc ACAAGCCGACTT CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAacaagccgacttAGATCGAGACCCGACGC chr6:31278748-Alternative-G;Patient-22 chr6:31278748-AT Inherited Patient-22 intergenic 0.000536 0.00103 0.19 5.76 0 HLA-C 38834 Alternative G ttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctc GGTCGTTATAAC CGACGCGGTCTCTCTCTttgaagttaataagatgcatatatatataaatatatatatatatatatatGtatatatatattttttttttttttttttttttgagatggagtctcgctcAGAGGGAGACGGACGTCTCAATAAggtcgttataacAGATCGAGACCCGACGC chr6:31278748-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative G gaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctg ATCGTCGTCCTA CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAatcgtcgtcctaAGATCGAGACCCGACGC chr6:31278750-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Variant T gaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctg GGTGCGTCAGAT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAggtgcgtcagatAGATCGAGACCCGACGC chr6:31278750-Variant-T;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Variant T gaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctg CAGACGCTTGGT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAcagacgcttggtAGATCGAGACCCGACGC chr6:31278750-Variant-T;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Variant T gaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctg ATATTCCGCTTC CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAatattccgcttcAGATCGAGACCCGACGC chr6:31278750-Variant-T;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative G gaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctg GATATAGTTGCG CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgatatagttgcgAGATCGAGACCCGACGC chr6:31278750-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative G gaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctg CTCTAAGTACGA CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAActctaagtacgaAGATCGAGACCCGACGC chr6:31278750-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative C gaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctg AGTAACGTGAAC CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAagtaacgtgaacAGATCGAGACCCGACGC chr6:31278750-Alternative-C;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative C gaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctg CGCTTGAGCCAA CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAcgcttgagccaaAGATCGAGACCCGACGC chr6:31278750-Alternative-C;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Variant T gaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctg GTATCGCTTCAT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgtatcgcttcatAGATCGAGACCCGACGC chr6:31278750-Variant-T;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative C gaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctg GATGCGATAAGT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgatgcgataagtAGATCGAGACCCGACGC chr6:31278750-Alternative-C;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Reference A gaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctg AGCGTCGTATGC CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAagcgtcgtatgcAGATCGAGACCCGACGC chr6:31278750-Reference-A;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative G gaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctg AACTCATAGCCA CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAaactcatagccaAGATCGAGACCCGACGC chr6:31278750-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative G gaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctg GCAGCTATGTGC CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatGtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgcagctatgtgcAGATCGAGACCCGACGC chr6:31278750-Alternative-G;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Variant T gaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctg AGAACCGATCTA CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatTtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAagaaccgatctaAGATCGAGACCCGACGC chr6:31278750-Variant-T;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Reference A gaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctg GTCAGCTATGTT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgtcagctatgttAGATCGAGACCCGACGC chr6:31278750-Reference-A;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Reference A gaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctg GTCTACGCTAGG CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgtctacgctaggAGATCGAGACCCGACGC chr6:31278750-Reference-A;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative C gaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctg GTTACAGTTACG CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgttacagttacgAGATCGAGACCCGACGC chr6:31278750-Alternative-C;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Reference A gaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctg AAGCGCAAGTAT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAaagcgcaagtatAGATCGAGACCCGACGC chr6:31278750-Reference-A;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Reference A gaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctg CGTGTGTTCGTC CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatAtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAcgtgtgttcgtcAGATCGAGACCCGACGC chr6:31278750-Reference-A;Patient-22 chr6:31278750-AT Inherited Patient-22 intergenic 0.000829 0.002051282 0.2 5.82 0 HLA-C 38836 Alternative C gaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctg GTGTCGCGTGAT CGACGCGGTCTCTCTCTgaagttaataagatgcatatatatataaatatatatatatatatatatatCtatatatattttttttttttttttttttttgagatggagtctcgctctgAGAGGGAGACGGACGTCTCAATAAgtgtcgcgtgatAGATCGAGACCCGACGC chr6:31278750-Alternative-C;Patient-22 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative C cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CGTGTAACAGTT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcgtgtaacagttAGATCGAGACCCGACGC chr6:31567293-Alternative-C;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative G cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CATCTGATTCGT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcatctgattcgtAGATCGAGACCCGACGC chr6:31567293-Alternative-G;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative C cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CAGGCTGTTGCA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcaggctgttgcaAGATCGAGACCCGACGC chr6:31567293-Alternative-C;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative G cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctc GGTTAGTAACGA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAggttagtaacgaAGATCGAGACCCGACGC chr6:31567293-Alternative-G;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Reference A cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CGTGCGTCTATT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcgtgcgtctattAGATCGAGACCCGACGC chr6:31567293-Reference-A;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative C cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctc ACGGTCATGATT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAacggtcatgattAGATCGAGACCCGACGC chr6:31567293-Alternative-C;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative G cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CTAACGTGTGAT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAActaacgtgtgatAGATCGAGACCCGACGC chr6:31567293-Alternative-G;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative C cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctc GCGTGATCCGAT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAgcgtgatccgatAGATCGAGACCCGACGC chr6:31567293-Alternative-C;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative G cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CACGCACTCGAA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcacgcactcgaaAGATCGAGACCCGACGC chr6:31567293-Alternative-G;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Reference A cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctc AATGTTCGTCGA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAaatgttcgtcgaAGATCGAGACCCGACGC chr6:31567293-Reference-A;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Reference A cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctc ATAGTGAGCGAG CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAatagtgagcgagAGATCGAGACCCGACGC chr6:31567293-Reference-A;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative G cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CGTCAGTAACAC CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcGagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcgtcagtaacacAGATCGAGACCCGACGC chr6:31567293-Alternative-G;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Reference A cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctc ACGCCGGTACTA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAacgccggtactaAGATCGAGACCCGACGC chr6:31567293-Reference-A;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Variant T cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctc GCAACGCGCTAT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAgcaacgcgctatAGATCGAGACCCGACGC chr6:31567293-Variant-T;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Alternative C cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CGGCGCTAAGAT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcCagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAcggcgctaagatAGATCGAGACCCGACGC chr6:31567293-Alternative-C;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Variant T cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctc AAGCGCGAAGCT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAaagcgcgaagctAGATCGAGACCCGACGC chr6:31567293-Variant-T;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Variant T cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctc ATCGGTGTAAGA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAatcggtgtaagaAGATCGAGACCCGACGC chr6:31567293-Variant-T;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Reference A cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctc CTATAAGCGCTA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcAagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAActataagcgctaAGATCGAGACCCGACGC chr6:31567293-Reference-A;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Variant T cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctc GATACGGAGTAT CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAgatacggagtatAGATCGAGACCCGACGC chr6:31567293-Variant-T;Patient-37 chr6:31567293-AT Inherited Patient-37 intergenic NA 0.000513 -0.31 0.33 -5.77 TNF 23948 Variant T cctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctc ACCTCGGCATGA CGACGCGGTCTCTCTCTcctaggtgttcaatgtgtggttcttctccagtgcttcccccgtcctgtgcTagggtggcagtgccattgctacacctggactcaagggcatcctgctctcAGAGGGAGACGGACGTCTCAATAAacctcggcatgaAGATCGAGACCCGACGC chr6:31567293-Variant-T;Patient-37 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative C acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CTAGTTGTGTTC CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAActagttgtgttcAGATCGAGACCCGACGC chr6:31972977-Alternative-C;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Reference G acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac GGACGACGCTAA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAggacgacgctaaAGATCGAGACCCGACGC chr6:31972977-Reference-G;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative C acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CAGTTATGCGAA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAcagttatgcgaaAGATCGAGACCCGACGC chr6:31972977-Alternative-C;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Reference G acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac GTGCCGACAGTT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAgtgccgacagttAGATCGAGACCCGACGC chr6:31972977-Reference-G;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Reference G acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac ACTCGTATGTTC CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAactcgtatgttcAGATCGAGACCCGACGC chr6:31972977-Reference-G;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Reference G acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac GGCGGTCGTTAT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAggcggtcgttatAGATCGAGACCCGACGC chr6:31972977-Reference-G;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative T acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac AACCAACGCAGT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAaaccaacgcagtAGATCGAGACCCGACGC chr6:31972977-Alternative-T;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative C acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CGCGGATAACAC CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAcgcggataacacAGATCGAGACCCGACGC chr6:31972977-Alternative-C;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative C acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac AGTTACGCAAGA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAagttacgcaagaAGATCGAGACCCGACGC chr6:31972977-Alternative-C;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Reference G acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CTTGCTAGTACT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagGcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAActtgctagtactAGATCGAGACCCGACGC chr6:31972977-Reference-G;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Variant A acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccac AGGCTTGCGGTT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAaggcttgcggttAGATCGAGACCCGACGC chr6:31972977-Variant-A;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Variant A acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccac GATCGACATCTA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAgatcgacatctaAGATCGAGACCCGACGC chr6:31972977-Variant-A;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Variant A acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccac CAGGTGTCTAAT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAcaggtgtctaatAGATCGAGACCCGACGC chr6:31972977-Variant-A;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative T acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CGTAGACACTTA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAcgtagacacttaAGATCGAGACCCGACGC chr6:31972977-Alternative-T;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Variant A acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccac AGTGCGCAGCAT CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAagtgcgcagcatAGATCGAGACCCGACGC chr6:31972977-Variant-A;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative T acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac GTAAGGCCATGG CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAgtaaggccatggAGATCGAGACCCGACGC chr6:31972977-Alternative-T;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Variant A acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccac GCATTCGTGTGG CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagActtaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAgcattcgtgtggAGATCGAGACCCGACGC chr6:31972977-Variant-A;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative T acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac CTGAATAACGAG CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAActgaataacgagAGATCGAGACCCGACGC chr6:31972977-Alternative-T;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative T acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac GTGTCGCGGTTA CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagTcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAgtgtcgcggttaAGATCGAGACCCGACGC chr6:31972977-Alternative-T;Patient-72 chr6:31972977-GA DeNovo Patient-72 intergenic NA 0.000111 0.18 5.47 1.14 SKIV2L 46395 Alternative C acaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccac ACGAAGGTTAGG CGACGCGGTCTCTCTCTacaatcacactgggatacctgtatatactggaatgccccaggcaaaccagCcttaaactgtattactctatctgtagcttaaactaacaaacaaacccacAGAGGGAGACGGACGTCTCAATAAacgaaggttaggAGATCGAGACCCGACGC chr6:31972977-Alternative-C;Patient-72 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Reference A gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GGCTACATCGAT CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAggctacatcgatAGATCGAGACCCGACGC chr6:32657035-Reference-A;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Reference A gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GCGGAGGTCATA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgcggaggtcataAGATCGAGACCCGACGC chr6:32657035-Reference-A;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative C gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GTCGTGCGTACA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgtcgtgcgtacaAGATCGAGACCCGACGC chr6:32657035-Alternative-C;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Reference A gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacacc ATAACGCGCATA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAataacgcgcataAGATCGAGACCCGACGC chr6:32657035-Reference-A;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Reference A gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacacc CAGCTATGAATC CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAcagctatgaatcAGATCGAGACCCGACGC chr6:32657035-Reference-A;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Reference A gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacacc AACGGCACCTAT CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctAcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAaacggcacctatAGATCGAGACCCGACGC chr6:32657035-Reference-A;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Variant G gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GCGGTGACGATA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgcggtgacgataAGATCGAGACCCGACGC chr6:32657035-Variant-G;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative C gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GTTATCTTGCGT CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgttatcttgcgtAGATCGAGACCCGACGC chr6:32657035-Alternative-C;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative C gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacacc ATTCGGTCATGA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAattcggtcatgaAGATCGAGACCCGACGC chr6:32657035-Alternative-C;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative C gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GCAGCGTGCTAA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgcagcgtgctaaAGATCGAGACCCGACGC chr6:32657035-Alternative-C;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative C gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacacc AGGTACAGATAC CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctCcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAaggtacagatacAGATCGAGACCCGACGC chr6:32657035-Alternative-C;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Variant G gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacacc CGTAACAACAAG CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAcgtaacaacaagAGATCGAGACCCGACGC chr6:32657035-Variant-G;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative T gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacacc ATAGGCTGAACA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAataggctgaacaAGATCGAGACCCGACGC chr6:32657035-Alternative-T;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative T gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GTATACTCCGGC CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgtatactccggcAGATCGAGACCCGACGC chr6:32657035-Alternative-T;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Variant G gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GATCGCGAGCTA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgatcgcgagctaAGATCGAGACCCGACGC chr6:32657035-Variant-G;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Variant G gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacacc GATGACCATACT CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAgatgaccatactAGATCGAGACCCGACGC chr6:32657035-Variant-G;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative T gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacacc CGCAATACATGG CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAcgcaatacatggAGATCGAGACCCGACGC chr6:32657035-Alternative-T;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Variant G gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacacc CACGAGATGCCT CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctGcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAcacgagatgcctAGATCGAGACCCGACGC chr6:32657035-Variant-G;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative T gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacacc AATGAGAAGCGA CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAaatgagaagcgaAGATCGAGACCCGACGC chr6:32657035-Alternative-T;Patient-110 chr6:32657035-AG DeNovo Patient-110 intergenic NA 3.98e-05 0.07 3.74 -0.44 HLA-DRB1 99421 Alternative T gttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacacc AGGTATTCGAAG CGACGCGGTCTCTCTCTgttttccttgactaggtgaatgtttatcattatatcagtctttctgtcctTcgatatctttttccttaaaatttgtttttgacattaataaataaacaccAGAGGGAGACGGACGTCTCAATAAaggtattcgaagAGATCGAGACCCGACGC chr6:32657035-Alternative-T;Patient-110 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative A aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ACTGGCCGCATT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAactggccgcattAGATCGAGACCCGACGC chr6:33440551-Alternative-A;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative A aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ACTGCTTCATCA CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAactgcttcatcaAGATCGAGACCCGACGC chr6:33440551-Alternative-A;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative A aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ACCGCATCAACG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAaccgcatcaacgAGATCGAGACCCGACGC chr6:33440551-Alternative-A;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative G aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GCATAAGCGAGT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAgcataagcgagtAGATCGAGACCCGACGC chr6:33440551-Alternative-G;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Variant T aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GGATATCTGCCG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAggatatctgccgAGATCGAGACCCGACGC chr6:33440551-Variant-T;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative G aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag CACGATACGTAC CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAcacgatacgtacAGATCGAGACCCGACGC chr6:33440551-Alternative-G;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Reference C aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag CTGGTTAGACCT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAActggttagacctAGATCGAGACCCGACGC chr6:33440551-Reference-C;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Reference C aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GTGAGCGATATC CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAgtgagcgatatcAGATCGAGACCCGACGC chr6:33440551-Reference-C;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Reference C aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag AGTCGAATGGCG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAagtcgaatggcgAGATCGAGACCCGACGC chr6:33440551-Reference-C;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative G aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag AAGCGTAAGGCG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAaagcgtaaggcgAGATCGAGACCCGACGC chr6:33440551-Alternative-G;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Variant T aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GATTCGGTGGAG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAgattcggtggagAGATCGAGACCCGACGC chr6:33440551-Variant-T;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Variant T aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GCGAATAATGAG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAgcgaataatgagAGATCGAGACCCGACGC chr6:33440551-Variant-T;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative A aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ATCCGGCTTGTC CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAatccggcttgtcAGATCGAGACCCGACGC chr6:33440551-Alternative-A;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Variant T aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GTATTACCACAG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAgtattaccacagAGATCGAGACCCGACGC chr6:33440551-Variant-T;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative G aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GGTCGGCATTGT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAggtcggcattgtAGATCGAGACCCGACGC chr6:33440551-Alternative-G;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Variant T aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ACCGTCGGTAAC CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccTagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAaccgtcggtaacAGATCGAGACCCGACGC chr6:33440551-Variant-T;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Reference C aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag CAACGAGACAAG CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAcaacgagacaagAGATCGAGACCCGACGC chr6:33440551-Reference-C;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative G aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag ACTGCGCTATAA CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccGagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAactgcgctataaAGATCGAGACCCGACGC chr6:33440551-Alternative-G;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Alternative A aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag CTCGCCATCAGT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccAagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAActcgccatcagtAGATCGAGACCCGACGC chr6:33440551-Alternative-A;Patient-75 chr6:33440551-CT DeNovo Patient-75 intergenic NA 0.000513 -0.12 1.22 0 PHF1 61812 Reference C aaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggag GGCGGCAATAGT CGACGCGGTCTCTCTCTaaaaaaaatttcagttgtgggctgggcgcggcagctcacgcctgtaatccCagcactttgggaggctgaggcgggaggatcacgaggtcaagagatggagAGAGGGAGACGGACGTCTCAATAAggcggcaatagtAGATCGAGACCCGACGC chr6:33440551-Reference-C;Patient-75 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative G tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca CATCTCGCTACG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAcatctcgctacgAGATCGAGACCCGACGC chr6:33681517-Alternative-G;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative G tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GCATACTCAAGG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgcatactcaaggAGATCGAGACCCGACGC chr6:33681517-Alternative-G;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative A tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca AGATACACGCTT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAagatacacgcttAGATCGAGACCCGACGC chr6:33681517-Alternative-A;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative G tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca CTAGCCGAATTA CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAActagccgaattaAGATCGAGACCCGACGC chr6:33681517-Alternative-G;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative A tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca CTCGGATATGAT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAActcggatatgatAGATCGAGACCCGACGC chr6:33681517-Alternative-A;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Reference C tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GGCTTCTCGACT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAggcttctcgactAGATCGAGACCCGACGC chr6:33681517-Reference-C;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative A tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca CTCGTAGCTTAT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAActcgtagcttatAGATCGAGACCCGACGC chr6:33681517-Alternative-A;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Variant T tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GCCTTGAACAGT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgccttgaacagtAGATCGAGACCCGACGC chr6:33681517-Variant-T;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative G tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GTACTAGATTCG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgtactagattcgAGATCGAGACCCGACGC chr6:33681517-Alternative-G;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative A tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GATGAGTGTAAC CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgatgagtgtaacAGATCGAGACCCGACGC chr6:33681517-Alternative-A;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Reference C tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GTTGGACTTGAT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgttggacttgatAGATCGAGACCCGACGC chr6:33681517-Reference-C;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Variant T tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca CGCCTATCGTTC CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAcgcctatcgttcAGATCGAGACCCGACGC chr6:33681517-Variant-T;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Reference C tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GGAATGCGATAA CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAggaatgcgataaAGATCGAGACCCGACGC chr6:33681517-Reference-C;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Variant T tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GGATAGGCGTGT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAggataggcgtgtAGATCGAGACCCGACGC chr6:33681517-Variant-T;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Variant T tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GGTCTGTAGTCG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAggtctgtagtcgAGATCGAGACCCGACGC chr6:33681517-Variant-T;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative A tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GTTCAATCGTGT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctAtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgttcaatcgtgtAGATCGAGACCCGACGC chr6:33681517-Alternative-A;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Variant T tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca AGTAGCGCTAGG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctTtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAagtagcgctaggAGATCGAGACCCGACGC chr6:33681517-Variant-T;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Reference C tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca AGTTCGAATTCG CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAagttcgaattcgAGATCGAGACCCGACGC chr6:33681517-Reference-C;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Alternative G tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca GATTACTTGCCT CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctGtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAgattacttgcctAGATCGAGACCCGACGC chr6:33681517-Alternative-G;Patient-101 chr6:33681517-CT DeNovo Patient-101 intergenic NA 0.000512821 0.18 5.5 2.42 LEMD2 75388 Reference C tttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtccca ACCGAAGATGCA CGACGCGGTCTCTCTCTtttctcccattaaaatgtgtttgttttatcaagtcttctcttatatgtctCtagctacatcaccatgtggactaatttttgttctcaaaagactgtcccaAGAGGGAGACGGACGTCTCAATAAaccgaagatgcaAGATCGAGACCCGACGC chr6:33681517-Reference-C;Patient-101 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative G caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GTTGTGTCGCAG CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAgttgtgtcgcagAGATCGAGACCCGACGC chr6:33791093-Alternative-G;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative G caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GGCTAAGCGACT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAggctaagcgactAGATCGAGACCCGACGC chr6:33791093-Alternative-G;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative G caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GTGGCGCAACTA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAgtggcgcaactaAGATCGAGACCCGACGC chr6:33791093-Alternative-G;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Reference T caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactc ACTTGACAAGCT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAacttgacaagctAGATCGAGACCCGACGC chr6:33791093-Reference-T;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Reference T caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactc ACACCACAACGG CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAacaccacaacggAGATCGAGACCCGACGC chr6:33791093-Reference-T;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Reference T caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CGACCAAGACCT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAcgaccaagacctAGATCGAGACCCGACGC chr6:33791093-Reference-T;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative A caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactc AGGACCTACATT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAaggacctacattAGATCGAGACCCGACGC chr6:33791093-Alternative-A;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Reference T caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactc ACGAACTCTCAA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAacgaactctcaaAGATCGAGACCCGACGC chr6:33791093-Reference-T;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Reference T caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CTGAGTCGCAAT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcTagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAActgagtcgcaatAGATCGAGACCCGACGC chr6:33791093-Reference-T;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative A caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactc AACCATTGATGC CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAaaccattgatgcAGATCGAGACCCGACGC chr6:33791093-Alternative-A;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative G caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CGCTTATAGGCG CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAcgcttataggcgAGATCGAGACCCGACGC chr6:33791093-Alternative-G;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative G caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CAGTAGTAGAGT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcGagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAcagtagtagagtAGATCGAGACCCGACGC chr6:33791093-Alternative-G;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative A caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactc AGCGGAAGCGTT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAagcggaagcgttAGATCGAGACCCGACGC chr6:33791093-Alternative-A;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative A caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CTGCGTCGATGA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAActgcgtcgatgaAGATCGAGACCCGACGC chr6:33791093-Alternative-A;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Alternative A caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GTACTGATGGTT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcAagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAgtactgatggttAGATCGAGACCCGACGC chr6:33791093-Alternative-A;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Variant C caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GAGCAGTTAGCG CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAgagcagttagcgAGATCGAGACCCGACGC chr6:33791093-Variant-C;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Variant C caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactc CTCAACGACTAA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAActcaacgactaaAGATCGAGACCCGACGC chr6:33791093-Variant-C;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Variant C caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactc AACAACACGGTT CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAaacaacacggttAGATCGAGACCCGACGC chr6:33791093-Variant-C;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Variant C caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactc AGAATGACCACA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAagaatgaccacaAGATCGAGACCCGACGC chr6:33791093-Variant-C;Patient-55 chr6:33791093-TC Inherited Patient-55 intergenic NA 0.000513 -0.52 0.07 -5.78 MLN 19299 Variant C caggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactc GCGCGTCACTTA CGACGCGGTCTCTCTCTcaggtggaattaattgccacctgtgtccccattgtatctgtaaacacctcCagcatcgttcctcctcctttctattaatgctattttatttgtctcactcAGAGGGAGACGGACGTCTCAATAAgcgcgtcacttaAGATCGAGACCCGACGC chr6:33791093-Variant-C;Patient-55 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative C actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GGTTCAGAACGG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAggttcagaacggAGATCGAGACCCGACGC chr6:34062321-Alternative-C;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative C actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg ATAGGCGAAGTT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAataggcgaagttAGATCGAGACCCGACGC chr6:34062321-Alternative-C;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative C actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg AAGGCGATCCGA CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAaaggcgatccgaAGATCGAGACCCGACGC chr6:34062321-Alternative-C;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative C actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg CATGCTACACCG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAcatgctacaccgAGATCGAGACCCGACGC chr6:34062321-Alternative-C;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Variant G actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg CGCGATGACTTC CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAcgcgatgacttcAGATCGAGACCCGACGC chr6:34062321-Variant-G;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Variant G actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg CTGAATCGTCGG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAActgaatcgtcggAGATCGAGACCCGACGC chr6:34062321-Variant-G;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative A actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg CAATGGACGTGG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAcaatggacgtggAGATCGAGACCCGACGC chr6:34062321-Alternative-A;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Reference T actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg AATAAGTCGTCC CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAaataagtcgtccAGATCGAGACCCGACGC chr6:34062321-Reference-T;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Variant G actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GCGTAACGTCGT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAgcgtaacgtcgtAGATCGAGACCCGACGC chr6:34062321-Variant-G;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Reference T actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg ACGTAACCAGGT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAacgtaaccaggtAGATCGAGACCCGACGC chr6:34062321-Reference-T;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative C actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GTTATCCGCGTC CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcCggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAgttatccgcgtcAGATCGAGACCCGACGC chr6:34062321-Alternative-C;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Variant G actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg AGGTGTTGCGAA CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAaggtgttgcgaaAGATCGAGACCCGACGC chr6:34062321-Variant-G;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Variant G actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GTGAGAATGACG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcGggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAgtgagaatgacgAGATCGAGACCCGACGC chr6:34062321-Variant-G;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Reference T actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GGTGGTATGCCT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAggtggtatgcctAGATCGAGACCCGACGC chr6:34062321-Reference-T;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative A actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GCCGACGGTTAT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAgccgacggttatAGATCGAGACCCGACGC chr6:34062321-Alternative-A;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Reference T actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg ATTAATGCGCAG CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAattaatgcgcagAGATCGAGACCCGACGC chr6:34062321-Reference-T;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Reference T actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg GGTACGCGTAGA CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcTggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAggtacgcgtagaAGATCGAGACCCGACGC chr6:34062321-Reference-T;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative A actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg AGCGGTTCATTA CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAagcggttcattaAGATCGAGACCCGACGC chr6:34062321-Alternative-A;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative A actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg ACGAGTGTGATT CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAacgagtgtgattAGATCGAGACCCGACGC chr6:34062321-Alternative-A;Patient-32 chr6:34062321-TG DeNovo Patient-32 intronic GRM4 0.000159 4.95e-05 0.24 6.41 1.03 GRM4 61077 Alternative A actttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttg ACGGCACACCTA CGACGCGGTCTCTCTCTactttaaggttgttatttttgaggtctgaaaatggtattagagtcatggcAggtttgtttttaggaagtcttgtgttttagagcagtttctcagcctttgAGAGGGAGACGGACGTCTCAATAAacggcacacctaAGATCGAGACCCGACGC chr6:34062321-Alternative-A;Patient-32 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Reference G accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa AACCGCCGTAAG CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAaaccgccgtaagAGATCGAGACCCGACGC chr6:34669909-Reference-G;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Reference G accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa AAGCGTAGCGTC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAaagcgtagcgtcAGATCGAGACCCGACGC chr6:34669909-Reference-G;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Reference G accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa ATATACGTGTCG CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAatatacgtgtcgAGATCGAGACCCGACGC chr6:34669909-Reference-G;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Reference G accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa CAAGACGAACGT CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAcaagacgaacgtAGATCGAGACCCGACGC chr6:34669909-Reference-G;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Variant T accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GCAGTTGTGCAC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgcagttgtgcacAGATCGAGACCCGACGC chr6:34669909-Variant-T;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Reference G accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa AGTAGCCTGACA CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagGcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAagtagcctgacaAGATCGAGACCCGACGC chr6:34669909-Reference-G;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Variant T accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GATTGCGTGCGT CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgattgcgtgcgtAGATCGAGACCCGACGC chr6:34669909-Variant-T;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Variant T accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GTCCGTCGACTT CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgtccgtcgacttAGATCGAGACCCGACGC chr6:34669909-Variant-T;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative C accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GCGGCATATCGA CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgcggcatatcgaAGATCGAGACCCGACGC chr6:34669909-Alternative-C;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative C accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa ACGGCCAACAAG CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAacggccaacaagAGATCGAGACCCGACGC chr6:34669909-Alternative-C;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative C accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GTACTAAGCGGC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgtactaagcggcAGATCGAGACCCGACGC chr6:34669909-Alternative-C;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative C accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GTGCTAAGCACG CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgtgctaagcacgAGATCGAGACCCGACGC chr6:34669909-Alternative-C;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative A accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GTCGACTTCGTC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgtcgacttcgtcAGATCGAGACCCGACGC chr6:34669909-Alternative-A;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative C accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa CTTGTCGACTTA CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagCcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAActtgtcgacttaAGATCGAGACCCGACGC chr6:34669909-Alternative-C;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative A accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GACATCGCAATT CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgacatcgcaattAGATCGAGACCCGACGC chr6:34669909-Alternative-A;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative A accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa CATCTTAGCGAA CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAcatcttagcgaaAGATCGAGACCCGACGC chr6:34669909-Alternative-A;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Variant T accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa ACATGCGACTGA CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAacatgcgactgaAGATCGAGACCCGACGC chr6:34669909-Variant-T;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative A accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa GACGCACTACAC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAgacgcactacacAGATCGAGACCCGACGC chr6:34669909-Alternative-A;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Variant T accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa CATGTCATGTTC CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagTcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAcatgtcatgttcAGATCGAGACCCGACGC chr6:34669909-Variant-T;Patient-61 chr6:34669909-GT Inherited Patient-61 intergenic 0.000255 0.000512821 0.33 7.64 0.42 SNRPC 54961 Alternative A accaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaa AATGCTTACGGT CGACGCGGTCTCTCTCTaccaggtgtggtggtgcatgcctgtaatcccagctactcaggaggctgagAcaggaaaatcgcttgaacccaggaggtggagattgtagtgagctgagaaAGAGGGAGACGGACGTCTCAATAAaatgcttacggtAGATCGAGACCCGACGC chr6:34669909-Alternative-A;Patient-61 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Variant G tttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca AGTTAGACGCGG CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAagttagacgcggAGATCGAGACCCGACGC chr6:34828465-Variant-G;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Variant G tttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca GAATGGCACGCA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAgaatggcacgcaAGATCGAGACCCGACGC chr6:34828465-Variant-G;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Variant G tttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CTTACAACGCGG CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAActtacaacgcggAGATCGAGACCCGACGC chr6:34828465-Variant-G;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative T tttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CTCACGTGGTTC CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAActcacgtggttcAGATCGAGACCCGACGC chr6:34828465-Alternative-T;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Variant G tttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca AGTACGACAACA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAagtacgacaacaAGATCGAGACCCGACGC chr6:34828465-Variant-G;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative T tttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca GCGAGTAGCGAT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAgcgagtagcgatAGATCGAGACCCGACGC chr6:34828465-Alternative-T;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative C tttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CAACGTCGCATA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAcaacgtcgcataAGATCGAGACCCGACGC chr6:34828465-Alternative-C;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Reference A tttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca ACGGCGTTGAGA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAacggcgttgagaAGATCGAGACCCGACGC chr6:34828465-Reference-A;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative T tttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca AGTCAATTCGGT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAagtcaattcggtAGATCGAGACCCGACGC chr6:34828465-Alternative-T;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Variant G tttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca ACTATCGGTAGG CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagGtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAactatcggtaggAGATCGAGACCCGACGC chr6:34828465-Variant-G;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative T tttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CTCAACGGTCTA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAActcaacggtctaAGATCGAGACCCGACGC chr6:34828465-Alternative-T;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative C tttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CGTTAATCTGCT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAcgttaatctgctAGATCGAGACCCGACGC chr6:34828465-Alternative-C;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative T tttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CTGCTTGCGGAT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagTtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAActgcttgcggatAGATCGAGACCCGACGC chr6:34828465-Alternative-T;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Reference A tttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CGTCGAATGTGC CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAcgtcgaatgtgcAGATCGAGACCCGACGC chr6:34828465-Reference-A;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Reference A tttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca GTTCACTGGTAA CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAgttcactggtaaAGATCGAGACCCGACGC chr6:34828465-Reference-A;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Reference A tttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca GCGAGTTCGTAC CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAgcgagttcgtacAGATCGAGACCCGACGC chr6:34828465-Reference-A;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative C tttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca CTCTAGCGCAAT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAActctagcgcaatAGATCGAGACCCGACGC chr6:34828465-Alternative-C;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative C tttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca AGTCAGACTACC CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAagtcagactaccAGATCGAGACCCGACGC chr6:34828465-Alternative-C;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Alternative C tttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca ATACGTTGGTGT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagCtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAatacgttggtgtAGATCGAGACCCGACGC chr6:34828465-Alternative-C;Patient-19 chr6:34828465-AG DeNovo Patient-19 intronic UHRF1BP1 NA 4.95e-05 0.86 12.34 -1.94 TAF11 27382 Reference A tttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacaca GGCGAACTGGTT CGACGCGGTCTCTCTCTtttataatagccctataaggcaagtattaatatcaatccccatctcacagAtgaggaaactgaggctcagagaggtaagaaacttgcacaagatcacacaAGAGGGAGACGGACGTCTCAATAAggcgaactggttAGATCGAGACCCGACGC chr6:34828465-Reference-A;Patient-19 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Variant G gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GAGTATTCGTAC CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgagtattcgtacAGATCGAGACCCGACGC chr6:355541-Variant-G;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative T gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GATATGCGAACG CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgatatgcgaacgAGATCGAGACCCGACGC chr6:355541-Alternative-T;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative T gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg ACATCTGCGGCA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAacatctgcggcaAGATCGAGACCCGACGC chr6:355541-Alternative-T;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative T gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg AATGTCACCTTC CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAaatgtcaccttcAGATCGAGACCCGACGC chr6:355541-Alternative-T;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Variant G gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg CTACCGCCTTGT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAActaccgccttgtAGATCGAGACCCGACGC chr6:355541-Variant-G;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative T gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg ATCGCGATTGAC CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAatcgcgattgacAGATCGAGACCCGACGC chr6:355541-Alternative-T;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Variant G gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg AATCGTATCGGT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAaatcgtatcggtAGATCGAGACCCGACGC chr6:355541-Variant-G;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative T gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg AGCTCAAGGCCA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctTaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAagctcaaggccaAGATCGAGACCCGACGC chr6:355541-Alternative-T;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Variant G gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GACGTCTGGTCA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgacgtctggtcaAGATCGAGACCCGACGC chr6:355541-Variant-G;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Variant G gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg AACTACGACCGG CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctGaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAaactacgaccggAGATCGAGACCCGACGC chr6:355541-Variant-G;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative A gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg CGAAGCTGACGA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAcgaagctgacgaAGATCGAGACCCGACGC chr6:355541-Alternative-A;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative A gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GTCTAGCAGCGT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgtctagcagcgtAGATCGAGACCCGACGC chr6:355541-Alternative-A;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Reference C gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GATACACGATCG CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgatacacgatcgAGATCGAGACCCGACGC chr6:355541-Reference-C;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative A gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GGCTGAACCTGT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAggctgaacctgtAGATCGAGACCCGACGC chr6:355541-Alternative-A;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Reference C gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GATTGGTGGTCA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgattggtggtcaAGATCGAGACCCGACGC chr6:355541-Reference-C;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Reference C gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GGACATTACCAC CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAggacattaccacAGATCGAGACCCGACGC chr6:355541-Reference-C;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative A gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GACGGCAACGAT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAgacggcaacgatAGATCGAGACCCGACGC chr6:355541-Alternative-A;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Reference C gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg GGCTAAGCGGTT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAggctaagcggttAGATCGAGACCCGACGC chr6:355541-Reference-C;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Reference C gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg ACGAGCGCTGAT CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctCaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAacgagcgctgatAGATCGAGACCCGACGC chr6:355541-Reference-C;Patient-91 chr6:355541-CG DeNovo Patient-91 intergenic NA 0.000513 0.02 2.86 0.25 IRF4 36197 Alternative A gcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcg ATCAACACGCAA CGACGCGGTCTCTCTCTgcaacatctcggagagtgctgagctcaggttcctggccattcaggtagctAaagcagcaggcacctgaaagcactccgaggaatggccaagccctcatcgAGAGGGAGACGGACGTCTCAATAAatcaacacgcaaAGATCGAGACCCGACGC chr6:355541-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Variant G tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GGTTGCTTGTGG CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAggttgcttgtggAGATCGAGACCCGACGC chr6:36109864-Variant-G;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Variant G tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GGTAACGCTCCT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAggtaacgctcctAGATCGAGACCCGACGC chr6:36109864-Variant-G;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative T tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AGTTGGTGCGCT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAagttggtgcgctAGATCGAGACCCGACGC chr6:36109864-Alternative-T;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Variant G tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga CATCGTGACGGT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAcatcgtgacggtAGATCGAGACCCGACGC chr6:36109864-Variant-G;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Variant G tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GTTCGTGCGACT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgttcgtgcgactAGATCGAGACCCGACGC chr6:36109864-Variant-G;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Reference C tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga ACCAACCGCAAG CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAaccaaccgcaagAGATCGAGACCCGACGC chr6:36109864-Reference-C;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Reference C tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AAGGTGCGGAGA CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAaaggtgcggagaAGATCGAGACCCGACGC chr6:36109864-Reference-C;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative A tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga CTATGTTCGAGT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAActatgttcgagtAGATCGAGACCCGACGC chr6:36109864-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Reference C tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GCGTTGTTCTAT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgcgttgttctatAGATCGAGACCCGACGC chr6:36109864-Reference-C;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Reference C tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AACAAGGAACCT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAaacaaggaacctAGATCGAGACCCGACGC chr6:36109864-Reference-C;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative A tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GGTCATGTATAC CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAggtcatgtatacAGATCGAGACCCGACGC chr6:36109864-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative A tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GACCGAATGCCA CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgaccgaatgccaAGATCGAGACCCGACGC chr6:36109864-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative T tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AGTTGGTCGTGC CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAagttggtcgtgcAGATCGAGACCCGACGC chr6:36109864-Alternative-T;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Reference C tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GATCGTGAACGG CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatCtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgatcgtgaacggAGATCGAGACCCGACGC chr6:36109864-Reference-C;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative A tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GCGTGTGTTACG CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgcgtgtgttacgAGATCGAGACCCGACGC chr6:36109864-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative T tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AGAGTGTATGGT CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAagagtgtatggtAGATCGAGACCCGACGC chr6:36109864-Alternative-T;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative A tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga ATCCTATCGACC CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatAtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAatcctatcgaccAGATCGAGACCCGACGC chr6:36109864-Alternative-A;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative T tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga ACAGCATAGACA CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAacagcatagacaAGATCGAGACCCGACGC chr6:36109864-Alternative-T;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Variant G tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga AATCTCGCTAGA CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatGtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAaatctcgctagaAGATCGAGACCCGACGC chr6:36109864-Variant-G;Patient-91 chr6:36109864-CG DeNovo Patient-91 3 prime UTR MAPK13 NA 0.000160205 -0.05 1.88 -0.24 MAPK13 11602 Alternative T tagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtggga GAGTGTCACCGA CGACGCGGTCTCTCTCTtagccttccttcttggcctggcattcaaaaccccttgtgttctctctaatTtcatcagctcccactgcctcccctagctagtccttatgtcagtgtgggaAGAGGGAGACGGACGTCTCAATAAgagtgtcaccgaAGATCGAGACCCGACGC chr6:36109864-Alternative-T;Patient-91 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative C aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaagg GTATAGCATGCT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAgtatagcatgctAGATCGAGACCCGACGC chr6:36141938-Alternative-C;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative C aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaagg GGTATGAACTTC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAggtatgaacttcAGATCGAGACCCGACGC chr6:36141938-Alternative-C;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative T aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaagg ACCGGTGAGGTT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAaccggtgaggttAGATCGAGACCCGACGC chr6:36141938-Alternative-T;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative T aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaagg GGATGAAGACAT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAggatgaagacatAGATCGAGACCCGACGC chr6:36141938-Alternative-T;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative C aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaagg CAGCATGCACAT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcagcatgcacatAGATCGAGACCCGACGC chr6:36141938-Alternative-C;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative C aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaagg GTAATAAGGCGA CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAgtaataaggcgaAGATCGAGACCCGACGC chr6:36141938-Alternative-C;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative T aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaagg CATAGCATGACC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcatagcatgaccAGATCGAGACCCGACGC chr6:36141938-Alternative-T;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Reference G aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaagg AGCAAGCGGAAC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAagcaagcggaacAGATCGAGACCCGACGC chr6:36141938-Reference-G;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative C aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaagg GGTTATGACATC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgCgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAggttatgacatcAGATCGAGACCCGACGC chr6:36141938-Alternative-C;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Reference G aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaagg ATCCGGCGAGTT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAatccggcgagttAGATCGAGACCCGACGC chr6:36141938-Reference-G;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Reference G aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaagg CAGGCTGAGAGT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcaggctgagagtAGATCGAGACCCGACGC chr6:36141938-Reference-G;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Variant A aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaagg CGTTGCATGACG CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcgttgcatgacgAGATCGAGACCCGACGC chr6:36141938-Variant-A;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Reference G aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaagg GGCTTGGTAGTC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAggcttggtagtcAGATCGAGACCCGACGC chr6:36141938-Reference-G;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Variant A aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaagg AGAGTTAGGCGA CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAagagttaggcgaAGATCGAGACCCGACGC chr6:36141938-Variant-A;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Reference G aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaagg CACTATCGCGTC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgGgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcactatcgcgtcAGATCGAGACCCGACGC chr6:36141938-Reference-G;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Variant A aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaagg ATTCCTATGCGA CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAattcctatgcgaAGATCGAGACCCGACGC chr6:36141938-Variant-A;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative T aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaagg GGTTGTGCATAT CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAggttgtgcatatAGATCGAGACCCGACGC chr6:36141938-Alternative-T;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Alternative T aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaagg AGCGCACAACAC CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgTgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAagcgcacaacacAGATCGAGACCCGACGC chr6:36141938-Alternative-T;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Variant A aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaagg ACGTGGACACAG CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAacgtggacacagAGATCGAGACCCGACGC chr6:36141938-Variant-A;Patient-53 chr6:36141938-GA DeNovo Patient-53 intergenic 0.000324 0.000513 -0.13 1.18 0.16 BRPF3 22611 Variant A aaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaagg CGCGATAGAGCA CGACGCGGTCTCTCTCTaaccaatagagagaagatatatgcaaaagaaagaaaagaaaggaagaatgAgggggaaggagggagggagggagggagggagggagggagagagggaaggAGAGGGAGACGGACGTCTCAATAAcgcgatagagcaAGATCGAGACCCGACGC chr6:36141938-Variant-A;Patient-53 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative A gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GAGCTCAGGCAA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgagctcaggcaaAGATCGAGACCCGACGC chr6:36629774-Alternative-A;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative A gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CTCTCGTAAGGT CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAActctcgtaaggtAGATCGAGACCCGACGC chr6:36629774-Alternative-A;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative A gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CGATTCGAGCAA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcgattcgagcaaAGATCGAGACCCGACGC chr6:36629774-Alternative-A;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative A gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg ATTGCGGTGTCG CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAattgcggtgtcgAGATCGAGACCCGACGC chr6:36629774-Alternative-A;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative C gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CACGGTACTTAT CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcacggtacttatAGATCGAGACCCGACGC chr6:36629774-Alternative-C;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative A gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GCATGTTCGTCC CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctAcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgcatgttcgtccAGATCGAGACCCGACGC chr6:36629774-Alternative-A;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative C gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GCAGTCAATACG CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgcagtcaatacgAGATCGAGACCCGACGC chr6:36629774-Alternative-C;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative C gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GACGCTTACAAG CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgacgcttacaagAGATCGAGACCCGACGC chr6:36629774-Alternative-C;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative C gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CATCGATCCACG CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcatcgatccacgAGATCGAGACCCGACGC chr6:36629774-Alternative-C;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Alternative C gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GCGATACACAAC CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctCcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgcgatacacaacAGATCGAGACCCGACGC chr6:36629774-Alternative-C;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Variant T gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GATGAGTGGTCG CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgatgagtggtcgAGATCGAGACCCGACGC chr6:36629774-Variant-T;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Variant T gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CGATATCAGTGT CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcgatatcagtgtAGATCGAGACCCGACGC chr6:36629774-Variant-T;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Variant T gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GTGGCGTAACCA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgtggcgtaaccaAGATCGAGACCCGACGC chr6:36629774-Variant-T;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Reference G gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CACAGCGTCAAT CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcacagcgtcaatAGATCGAGACCCGACGC chr6:36629774-Reference-G;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Reference G gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg AACGTAGTCCAT CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAaacgtagtccatAGATCGAGACCCGACGC chr6:36629774-Reference-G;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Variant T gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CGGTAGATATAC CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAcggtagatatacAGATCGAGACCCGACGC chr6:36629774-Variant-T;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Reference G gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GCCGTAGTACGA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgccgtagtacgaAGATCGAGACCCGACGC chr6:36629774-Reference-G;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Reference G gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg AGTGTTCCATGA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAagtgttccatgaAGATCGAGACCCGACGC chr6:36629774-Reference-G;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Variant T gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg CTAAGCACGCTA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctTcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAActaagcacgctaAGATCGAGACCCGACGC chr6:36629774-Variant-T;Patient-91 chr6:36629774-GT DeNovo Patient-91 intergenic NA 0.000512821 -0.25 0.5 -4.97 CDKN1A 14462 Reference G gctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatg GTCGAGGTAAGA CGACGCGGTCTCTCTCTgctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctGcgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgAGAGGGAGACGGACGTCTCAATAAgtcgaggtaagaAGATCGAGACCCGACGC chr6:36629774-Reference-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative A ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GGAACGTAACCG CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAggaacgtaaccgAGATCGAGACCCGACGC chr6:36629775-Alternative-A;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative A ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GTAGAACGAACT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgtagaacgaactAGATCGAGACCCGACGC chr6:36629775-Alternative-A;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Reference C ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GTGACGCTAGCT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgtgacgctagctAGATCGAGACCCGACGC chr6:36629775-Reference-C;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative G ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GAATCATACCGT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgaatcataccgtAGATCGAGACCCGACGC chr6:36629775-Alternative-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Reference C ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GTGCTTATGGCG CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgtgcttatggcgAGATCGAGACCCGACGC chr6:36629775-Reference-C;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Variant T ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GGATACCTTCGG CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAggataccttcggAGATCGAGACCCGACGC chr6:36629775-Variant-T;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative A ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GGTCGGAGTAGA CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAggtcggagtagaAGATCGAGACCCGACGC chr6:36629775-Alternative-A;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Reference C ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CGAGTAGGTAGA CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAcgagtaggtagaAGATCGAGACCCGACGC chr6:36629775-Reference-C;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative A ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc ACCTACTAAGGT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAacctactaaggtAGATCGAGACCCGACGC chr6:36629775-Alternative-A;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Reference C ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GCGTGTTCTTCG CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgcgtgttcttcgAGATCGAGACCCGACGC chr6:36629775-Reference-C;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Reference C ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc GCACGAAGTACC CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgCgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAgcacgaagtaccAGATCGAGACCCGACGC chr6:36629775-Reference-C;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative A ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc ATCTTGTCGGAT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgAgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAatcttgtcggatAGATCGAGACCCGACGC chr6:36629775-Alternative-A;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Variant T ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc ACACGACTGACT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAacacgactgactAGATCGAGACCCGACGC chr6:36629775-Variant-T;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative G ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CTAACCTAGTCT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAActaacctagtctAGATCGAGACCCGACGC chr6:36629775-Alternative-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative G ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc AGACTAGTTCCA CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAagactagttccaAGATCGAGACCCGACGC chr6:36629775-Alternative-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative G ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CGGATTAATACG CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAcggattaatacgAGATCGAGACCCGACGC chr6:36629775-Alternative-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Alternative G ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CGGCTGTGAATC CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgGgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAcggctgtgaatcAGATCGAGACCCGACGC chr6:36629775-Alternative-G;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Variant T ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CGTGCGTGTCTA CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAcgtgcgtgtctaAGATCGAGACCCGACGC chr6:36629775-Variant-T;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Variant T ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc CATTCAGATCGA CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAcattcagatcgaAGATCGAGACCCGACGC chr6:36629775-Variant-T;Patient-91 chr6:36629775-CT DeNovo Patient-91 intergenic NA 0.000513 0.04 3.28 1.44 CDKN1A 14461 Variant T ctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgc ACTGAGCGACGT CGACGCGGTCTCTCTCTctcggttttagcattgaaagtcctgtgtccttggaagcccctcaattctgTgctatcccgaacagttagtcaccctatgcattgtttagatgaattatgcAGAGGGAGACGGACGTCTCAATAAactgagcgacgtAGATCGAGACCCGACGC chr6:36629775-Variant-T;Patient-91 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative C gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga AGAGGTAGTACG CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAagaggtagtacgAGATCGAGACCCGACGC chr6:37353846-Alternative-C;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Variant A gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CACGTAGATACT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAcacgtagatactAGATCGAGACCCGACGC chr6:37353846-Variant-A;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Variant A gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CTCGGAAGTAAT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAActcggaagtaatAGATCGAGACCCGACGC chr6:37353846-Variant-A;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Variant A gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CACGTGTATCCT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAcacgtgtatcctAGATCGAGACCCGACGC chr6:37353846-Variant-A;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative C gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga GCAACGAATCTT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAgcaacgaatcttAGATCGAGACCCGACGC chr6:37353846-Alternative-C;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative C gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga AGCTGTTCGTCC CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAagctgttcgtccAGATCGAGACCCGACGC chr6:37353846-Alternative-C;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative C gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga ACAGCGCTAACT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAacagcgctaactAGATCGAGACCCGACGC chr6:37353846-Alternative-C;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Variant A gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga AGTGTAGTAACG CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAagtgtagtaacgAGATCGAGACCCGACGC chr6:37353846-Variant-A;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative C gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga ACAAGCAACCGC CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcCagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAacaagcaaccgcAGATCGAGACCCGACGC chr6:37353846-Alternative-C;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative T gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga GTGGCTAGTACC CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAgtggctagtaccAGATCGAGACCCGACGC chr6:37353846-Alternative-T;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Reference G gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga GCGAGAACTCAT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAgcgagaactcatAGATCGAGACCCGACGC chr6:37353846-Reference-G;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative T gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga GGTCAACGGCTT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAggtcaacggcttAGATCGAGACCCGACGC chr6:37353846-Alternative-T;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative T gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CACATCGCGTGT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAcacatcgcgtgtAGATCGAGACCCGACGC chr6:37353846-Alternative-T;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative T gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga ACGAATACTTCG CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAacgaatacttcgAGATCGAGACCCGACGC chr6:37353846-Alternative-T;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Variant A gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga GTTGTGTAGGCG CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcAagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAgttgtgtaggcgAGATCGAGACCCGACGC chr6:37353846-Variant-A;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Alternative T gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga ACTTCCTATGGT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcTagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAacttcctatggtAGATCGAGACCCGACGC chr6:37353846-Alternative-T;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Reference G gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga ACCTGAACGCAA CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAacctgaacgcaaAGATCGAGACCCGACGC chr6:37353846-Reference-G;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Reference G gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CGAATCCGGCAA CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAcgaatccggcaaAGATCGAGACCCGACGC chr6:37353846-Reference-G;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Reference G gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CTGGCGATCGTT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAActggcgatcgttAGATCGAGACCCGACGC chr6:37353846-Reference-G;Patient-104 chr6:37353846-GA DeNovo Patient-104 intronic RNF8 0.00016 3.91e-05 -0.33 0.3 -0.47 RNF8 32097 Reference G gagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtga CGGACCGTTCTT CGACGCGGTCTCTCTCTgagatgggatttcaccatgttgcccaggctgatcttgaactcctgagctcGagcaatccacccgcctcagcctcccaaagtgccaggattacaggtgtgaAGAGGGAGACGGACGTCTCAATAAcggaccgttcttAGATCGAGACCCGACGC chr6:37353846-Reference-G;Patient-104 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Variant G aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GAGTGTCGCTGT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgagtgtcgctgtAGATCGAGACCCGACGC chr6:37386501-Variant-G;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Variant G aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcat CAGCGTTCGAGT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAcagcgttcgagtAGATCGAGACCCGACGC chr6:37386501-Variant-G;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Variant G aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GTTACGCTGAAT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgttacgctgaatAGATCGAGACCCGACGC chr6:37386501-Variant-G;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Variant G aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GGCACGTCCTAA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAggcacgtcctaaAGATCGAGACCCGACGC chr6:37386501-Variant-G;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative C aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcat AGCATACGTTGT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAagcatacgttgtAGATCGAGACCCGACGC chr6:37386501-Alternative-C;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Reference T aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcat ACCTTACTCGCA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAaccttactcgcaAGATCGAGACCCGACGC chr6:37386501-Reference-T;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative A aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcat AGTTCAACGAGA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAagttcaacgagaAGATCGAGACCCGACGC chr6:37386501-Alternative-A;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Variant G aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcat AACAGCAGTCAA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttGttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAaacagcagtcaaAGATCGAGACCCGACGC chr6:37386501-Variant-G;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative C aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcat ACTGCGGAACGT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAactgcggaacgtAGATCGAGACCCGACGC chr6:37386501-Alternative-C;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Reference T aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GTAGCGTCACGA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgtagcgtcacgaAGATCGAGACCCGACGC chr6:37386501-Reference-T;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative C aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GACGTTAACGTT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgacgttaacgttAGATCGAGACCCGACGC chr6:37386501-Alternative-C;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative A aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcat AAGGCTAATTCG CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAaaggctaattcgAGATCGAGACCCGACGC chr6:37386501-Alternative-A;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Reference T aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GTAAGCGAGACA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgtaagcgagacaAGATCGAGACCCGACGC chr6:37386501-Reference-T;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative C aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GGAGGATCGGAA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAggaggatcggaaAGATCGAGACCCGACGC chr6:37386501-Alternative-C;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Reference T aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcat ACTCGTACGTAT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAactcgtacgtatAGATCGAGACCCGACGC chr6:37386501-Reference-T;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative C aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GCATGACCATAC CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttCttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgcatgaccatacAGATCGAGACCCGACGC chr6:37386501-Alternative-C;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Reference T aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcat CGGATATAGTCA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttTttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAcggatatagtcaAGATCGAGACCCGACGC chr6:37386501-Reference-T;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative A aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcat CAAGTCGCTTAA CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAcaagtcgcttaaAGATCGAGACCCGACGC chr6:37386501-Alternative-A;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative A aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcat CGGTGGTGTCTT CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAcggtggtgtcttAGATCGAGACCCGACGC chr6:37386501-Alternative-A;Patient-37 chr6:37386501-TG Inherited Patient-37 intergenic 0.000133 0.000513 0.11 4.45 0 RNF8 64752 Alternative A aaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcat GAGTCCTTCAGG CGACGCGGTCTCTCTCTaaatcagatcacccaggtttgttttgttgctggtttttttttttttttttAttttcggtcactttcctggactaattctgcagtctgtgtactttttcatAGAGGGAGACGGACGTCTCAATAAgagtccttcaggAGATCGAGACCCGACGC chr6:37386501-Alternative-A;Patient-37 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative A aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ATAGCGTTGCTA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAatagcgttgctaAGATCGAGACCCGACGC chr6:40497827-Alternative-A;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Reference G aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GTCGATGTTCAA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAgtcgatgttcaaAGATCGAGACCCGACGC chr6:40497827-Reference-G;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative A aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CACGGACCTAAG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAcacggacctaagAGATCGAGACCCGACGC chr6:40497827-Alternative-A;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative T aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CGCAAGCGTAGA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAcgcaagcgtagaAGATCGAGACCCGACGC chr6:40497827-Alternative-T;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative T aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GCCGGTTCAGAA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAgccggttcagaaAGATCGAGACCCGACGC chr6:40497827-Alternative-T;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative T aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ACGCATAATGAG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAacgcataatgagAGATCGAGACCCGACGC chr6:40497827-Alternative-T;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative A aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GCCGGTCAACTT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAgccggtcaacttAGATCGAGACCCGACGC chr6:40497827-Alternative-A;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Variant C aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg AACGTAGGAGAA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAaacgtaggagaaAGATCGAGACCCGACGC chr6:40497827-Variant-C;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative A aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ATCGTCGGCGAT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAatcgtcggcgatAGATCGAGACCCGACGC chr6:40497827-Alternative-A;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Reference G aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ACCGTACTCGCT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAaccgtactcgctAGATCGAGACCCGACGC chr6:40497827-Reference-G;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Variant C aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GACCGCAGGTAA CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAgaccgcaggtaaAGATCGAGACCCGACGC chr6:40497827-Variant-C;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative A aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CAACAACAACAG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcAtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAcaacaacaacagAGATCGAGACCCGACGC chr6:40497827-Alternative-A;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Variant C aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GGTAACGGTATC CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAggtaacggtatcAGATCGAGACCCGACGC chr6:40497827-Variant-C;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative T aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ACACCAATGTCG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAacaccaatgtcgAGATCGAGACCCGACGC chr6:40497827-Alternative-T;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Alternative T aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CGTACACCGCAT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcTtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAcgtacaccgcatAGATCGAGACCCGACGC chr6:40497827-Alternative-T;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Variant C aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CTGTCGTGTCGT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAActgtcgtgtcgtAGATCGAGACCCGACGC chr6:40497827-Variant-C;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Variant C aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GGTCGAGTGGAT CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcCtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAggtcgagtggatAGATCGAGACCCGACGC chr6:40497827-Variant-C;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Reference G aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg ACTCTCTTCGCG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAactctcttcgcgAGATCGAGACCCGACGC chr6:40497827-Reference-G;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Reference G aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg GTTAACGCTCGG CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAgttaacgctcggAGATCGAGACCCGACGC chr6:40497827-Reference-G;Patient-22 chr6:40497827-GC Inherited Patient-22 intronic LRFN2 6.4e-05 0.00016 -0.61 0.04 -4.38 LRFN2 57298 Reference G aggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctg CAGCGGTAACAC CGACGCGGTCTCTCTCTaggtaacactcacactttaagcaaggggaaatgcaggcccagagagagtcGtcgcagaaggaatgaagcagagacagacgccctctctttgcaatgcctgAGAGGGAGACGGACGTCTCAATAAcagcggtaacacAGATCGAGACCCGACGC chr6:40497827-Reference-G;Patient-22 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Reference C agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagcc ACCTTCGTCGAC CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAaccttcgtcgacAGATCGAGACCCGACGC chr6:41014651-Reference-C;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative A agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagcc AGGAACTCGGAA CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAaggaactcggaaAGATCGAGACCCGACGC chr6:41014651-Alternative-A;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative A agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagcc CGTAATAAGACG CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAcgtaataagacgAGATCGAGACCCGACGC chr6:41014651-Alternative-A;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative A agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagcc ACGTCCAGCGAT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAacgtccagcgatAGATCGAGACCCGACGC chr6:41014651-Alternative-A;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative G agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagcc AAGTCGCACTAT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAaagtcgcactatAGATCGAGACCCGACGC chr6:41014651-Alternative-G;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative A agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagcc CTACCGACAGGT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAActaccgacaggtAGATCGAGACCCGACGC chr6:41014651-Alternative-A;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative G agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagcc ACGTGGACCTTA CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAacgtggaccttaAGATCGAGACCCGACGC chr6:41014651-Alternative-G;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative G agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagcc GGAATGCCTCGT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAggaatgcctcgtAGATCGAGACCCGACGC chr6:41014651-Alternative-G;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Reference C agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagcc ACGGTAGGTTCG CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAacggtaggttcgAGATCGAGACCCGACGC chr6:41014651-Reference-C;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative G agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagcc GGTGACGGCAAT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAggtgacggcaatAGATCGAGACCCGACGC chr6:41014651-Alternative-G;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative G agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagcc GATACGGCTTAT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacGtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgatacggcttatAGATCGAGACCCGACGC chr6:41014651-Alternative-G;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Variant T agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagcc AGCATACTCGCG CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAagcatactcgcgAGATCGAGACCCGACGC chr6:41014651-Variant-T;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Variant T agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagcc AGCCAAGATGAA CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAagccaagatgaaAGATCGAGACCCGACGC chr6:41014651-Variant-T;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Variant T agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagcc AGCAACGTCGTC CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAagcaacgtcgtcAGATCGAGACCCGACGC chr6:41014651-Variant-T;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Alternative A agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagcc GTTCCAGCTATT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacAtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgttccagctattAGATCGAGACCCGACGC chr6:41014651-Alternative-A;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Variant T agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagcc GTCAATGGCTAT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgtcaatggctatAGATCGAGACCCGACGC chr6:41014651-Variant-T;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Variant T agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagcc GCGGAAGCTAGA CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacTtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgcggaagctagaAGATCGAGACCCGACGC chr6:41014651-Variant-T;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Reference C agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagcc CGATGTGTTCTT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAcgatgtgttcttAGATCGAGACCCGACGC chr6:41014651-Reference-C;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Reference C agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagcc GCGGTTACAATA CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgcggttacaataAGATCGAGACCCGACGC chr6:41014651-Reference-C;Patient-66 chr6:41014651-CT DeNovo Patient-66 intergenic 3.2e-05 0.000513 0.24 6.36 2.57 NFYA 26055 Reference C agctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagcc GCGTGTAATACT CGACGCGGTCTCTCTCTagctccttggttcctgggtgaagggagcccctaatcccacagtctccaacCtccctggggctcttatctttccccttaccccacttcccagttcagagccAGAGGGAGACGGACGTCTCAATAAgcgtgtaatactAGATCGAGACCCGACGC chr6:41014651-Reference-C;Patient-66 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Reference G gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CATTCTCGTGCA CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAcattctcgtgcaAGATCGAGACCCGACGC chr6:41067998-Reference-G;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative C gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca ACGGCAAGCAGT CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAacggcaagcagtAGATCGAGACCCGACGC chr6:41067998-Alternative-C;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative T gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca AGTAATATGCGC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAagtaatatgcgcAGATCGAGACCCGACGC chr6:41067998-Alternative-T;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Variant A gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca GCAGTTCTGACG CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAgcagttctgacgAGATCGAGACCCGACGC chr6:41067998-Variant-A;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative C gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca AGCAATGGACCG CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAagcaatggaccgAGATCGAGACCCGACGC chr6:41067998-Alternative-C;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Reference G gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca AACGCAAGCAAG CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAaacgcaagcaagAGATCGAGACCCGACGC chr6:41067998-Reference-G;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative T gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CTCTTGAGTTCA CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAActcttgagttcaAGATCGAGACCCGACGC chr6:41067998-Alternative-T;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Reference G gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca AATGTCCATACG CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAaatgtccatacgAGATCGAGACCCGACGC chr6:41067998-Reference-G;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Variant A gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca GATGGTACAGTT CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAgatggtacagttAGATCGAGACCCGACGC chr6:41067998-Variant-A;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative T gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CACTGTTCAAGA CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAcactgttcaagaAGATCGAGACCCGACGC chr6:41067998-Alternative-T;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative T gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CGAGCGTTACAC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAcgagcgttacacAGATCGAGACCCGACGC chr6:41067998-Alternative-T;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Variant A gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CGCTGTGCATTC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAcgctgtgcattcAGATCGAGACCCGACGC chr6:41067998-Variant-A;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Reference G gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca AGCCACTACTTC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAagccactacttcAGATCGAGACCCGACGC chr6:41067998-Reference-G;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Reference G gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CGTGCTCGTTCA CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaGgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAcgtgctcgttcaAGATCGAGACCCGACGC chr6:41067998-Reference-G;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Variant A gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca ACAGCACGATGC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAacagcacgatgcAGATCGAGACCCGACGC chr6:41067998-Variant-A;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative T gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca ACCTGATGATAC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaTgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAacctgatgatacAGATCGAGACCCGACGC chr6:41067998-Alternative-T;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative C gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca GGCTACACGCTT CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAggctacacgcttAGATCGAGACCCGACGC chr6:41067998-Alternative-C;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Variant A gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca CTACAACGACTA CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaAgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAActacaacgactaAGATCGAGACCCGACGC chr6:41067998-Variant-A;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative C gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca GAATATGGATGC CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAgaatatggatgcAGATCGAGACCCGACGC chr6:41067998-Alternative-C;Patient-77 chr6:41067998-GA DeNovo Patient-77 3 prime UTR NFYA 3.2e-05 0.000159744 NA NA NA NFYA 27290 Alternative C gatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttca GATCGCGACGTT CGACGCGGTCTCTCTCTgatgctactactgaaagtgtttatcaaaatgtgatgaagtaattccatgaCgaaaattagccgttatcacaaaaacagccttaagtattgtagaatttcaAGAGGGAGACGGACGTCTCAATAAgatcgcgacgttAGATCGAGACCCGACGC chr6:41067998-Alternative-C;Patient-77 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative C atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgatt CAAGACGCGTAC CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAcaagacgcgtacAGATCGAGACCCGACGC chr6:42432538-Alternative-C;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative C atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgatt GATGCTTCGTAA CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAgatgcttcgtaaAGATCGAGACCCGACGC chr6:42432538-Alternative-C;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative C atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgatt ACGGTACAGACG CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAacggtacagacgAGATCGAGACCCGACGC chr6:42432538-Alternative-C;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative T atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgatt GAGCTCTATTGT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAgagctctattgtAGATCGAGACCCGACGC chr6:42432538-Alternative-T;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative T atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgatt ACGTGCTCCTAT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAacgtgctcctatAGATCGAGACCCGACGC chr6:42432538-Alternative-T;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative T atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgatt AAGGTAGGTTCA CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAaaggtaggttcaAGATCGAGACCCGACGC chr6:42432538-Alternative-T;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Reference G atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgatt CGCATACTCAAT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAcgcatactcaatAGATCGAGACCCGACGC chr6:42432538-Reference-G;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Variant A atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgatt CTAGAATCGTCA CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAActagaatcgtcaAGATCGAGACCCGACGC chr6:42432538-Variant-A;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Reference G atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgatt AGCTTCTGAGAT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAagcttctgagatAGATCGAGACCCGACGC chr6:42432538-Reference-G;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative T atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgatt CAGTTGTGTCTT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAcagttgtgtcttAGATCGAGACCCGACGC chr6:42432538-Alternative-T;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative C atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgatt AGACTGATCCAT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAagactgatccatAGATCGAGACCCGACGC chr6:42432538-Alternative-C;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative T atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgatt GTTGATTCTGCT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttTtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAgttgattctgctAGATCGAGACCCGACGC chr6:42432538-Alternative-T;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Variant A atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgatt CGTCGCTAGCTT CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAcgtcgctagcttAGATCGAGACCCGACGC chr6:42432538-Variant-A;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Variant A atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgatt GAGTTATTGCGA CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAgagttattgcgaAGATCGAGACCCGACGC chr6:42432538-Variant-A;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Variant A atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgatt AGGAATGCCAAG CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAaggaatgccaagAGATCGAGACCCGACGC chr6:42432538-Variant-A;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Reference G atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgatt CGTGGAATACGG CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAcgtggaatacggAGATCGAGACCCGACGC chr6:42432538-Reference-G;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Alternative C atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgatt GTTGGCACGTAC CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttCtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAgttggcacgtacAGATCGAGACCCGACGC chr6:42432538-Alternative-C;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Reference G atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgatt CTTGCCGAAGTC CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAActtgccgaagtcAGATCGAGACCCGACGC chr6:42432538-Reference-G;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Variant A atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgatt GGTAGGCCAATC CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttAtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAggtaggccaatcAGATCGAGACCCGACGC chr6:42432538-Variant-A;Patient-21 chr6:42432538-GA Inherited Patient-21 intergenic 0.000128 0.00205 -0.1 1.43 0.53 TRERF1 12754 Reference G atgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgatt ACAGCTACGATA CGACGCGGTCTCTCTCTatgctgggctttttgaaatgctttctttttgctttgtttgatatgctgttGtcatttttactctctggttttttaatttggtggattataataattgattAGAGGGAGACGGACGTCTCAATAAacagctacgataAGATCGAGACCCGACGC chr6:42432538-Reference-G;Patient-21 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative C tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg CGGCACACCAAT CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAcggcacaccaatAGATCGAGACCCGACGC chr6:42864419-Alternative-C;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Reference A tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg AACAAGCGGTGG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAaacaagcggtggAGATCGAGACCCGACGC chr6:42864419-Reference-A;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative C tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GCGTGGTTGGAA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgcgtggttggaaAGATCGAGACCCGACGC chr6:42864419-Alternative-C;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative C tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GGACGGTGTACA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAggacggtgtacaAGATCGAGACCCGACGC chr6:42864419-Alternative-C;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Reference A tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg CTTGACCATGTT CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAActtgaccatgttAGATCGAGACCCGACGC chr6:42864419-Reference-A;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative C tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GCGTCCATTGAC CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgcgtccattgacAGATCGAGACCCGACGC chr6:42864419-Alternative-C;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative C tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg AAGATGATGGAG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaCttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAaagatgatggagAGATCGAGACCCGACGC chr6:42864419-Alternative-C;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Reference A tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg CGAGCAACCTTA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAcgagcaaccttaAGATCGAGACCCGACGC chr6:42864419-Reference-A;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Reference A tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg ACAGGTCACGCT CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAacaggtcacgctAGATCGAGACCCGACGC chr6:42864419-Reference-A;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Variant G tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GCCAGGTATGAG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgccaggtatgagAGATCGAGACCCGACGC chr6:42864419-Variant-G;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Variant G tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GATCATCGACAG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgatcatcgacagAGATCGAGACCCGACGC chr6:42864419-Variant-G;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Variant G tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GGCGAGTTGACA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAggcgagttgacaAGATCGAGACCCGACGC chr6:42864419-Variant-G;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative T tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg ATACGGCTCTAA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAatacggctctaaAGATCGAGACCCGACGC chr6:42864419-Alternative-T;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Variant G tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg AGTAAGTCGCAG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAagtaagtcgcagAGATCGAGACCCGACGC chr6:42864419-Variant-G;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative T tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GATCACGAGAAG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgatcacgagaagAGATCGAGACCCGACGC chr6:42864419-Alternative-T;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative T tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg ACGCCATCATAA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAacgccatcataaAGATCGAGACCCGACGC chr6:42864419-Alternative-T;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative T tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg CAGATAGCGACG CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAcagatagcgacgAGATCGAGACCCGACGC chr6:42864419-Alternative-T;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Variant G tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg AAGATGGCGAGT CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaGttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAaagatggcgagtAGATCGAGACCCGACGC chr6:42864419-Variant-G;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Reference A tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg GCAGCATAGTAA CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaAttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAgcagcatagtaaAGATCGAGACCCGACGC chr6:42864419-Reference-A;Patient-54 chr6:42864419-AG Inherited Patient-54 intergenic 0.000669 0.00154 0.03 3.15 0.12 PEX6 82561 Alternative T tgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaagg AACGAGCAGGAT CGACGCGGTCTCTCTCTtgttcttctgatatcaccattttatttacctggcgagtcgatgatgctcaTttgagggttttttgtctccgcagaggcgcttttcttcgcatctccaaggAGAGGGAGACGGACGTCTCAATAAaacgagcaggatAGATCGAGACCCGACGC chr6:42864419-Alternative-T;Patient-54 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative G gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt ATCCGGTGAACG CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAatccggtgaacgAGATCGAGACCCGACGC chr6:42880956-Alternative-G;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative G gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt GGCACGCTTCTT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAggcacgcttcttAGATCGAGACCCGACGC chr6:42880956-Alternative-G;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative C gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt AACGACTGTGTT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAaacgactgtgttAGATCGAGACCCGACGC chr6:42880956-Alternative-C;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative C gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt ATCGTTGGATGT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAatcgttggatgtAGATCGAGACCCGACGC chr6:42880956-Alternative-C;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative C gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt CTAGTTGTTAGG CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAActagttgttaggAGATCGAGACCCGACGC chr6:42880956-Alternative-C;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative C gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt GGATGCGACTTC CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAggatgcgacttcAGATCGAGACCCGACGC chr6:42880956-Alternative-C;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative C gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt AGACGACGGCAT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtCtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAagacgacggcatAGATCGAGACCCGACGC chr6:42880956-Alternative-C;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Reference A gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt CGGAATGTATGT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAcggaatgtatgtAGATCGAGACCCGACGC chr6:42880956-Reference-A;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Reference A gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt GCGATACGAGTT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAgcgatacgagttAGATCGAGACCCGACGC chr6:42880956-Reference-A;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Reference A gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt GTACCACGCTTA CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAgtaccacgcttaAGATCGAGACCCGACGC chr6:42880956-Reference-A;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Reference A gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt ACAAGACTGGAC CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAacaagactggacAGATCGAGACCCGACGC chr6:42880956-Reference-A;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Reference A gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt CTAGCTCGTCCA CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtAtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAActagctcgtccaAGATCGAGACCCGACGC chr6:42880956-Reference-A;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Variant T gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt CGACCGATGGAA CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAcgaccgatggaaAGATCGAGACCCGACGC chr6:42880956-Variant-T;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Variant T gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt GTCAATGGATGT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAgtcaatggatgtAGATCGAGACCCGACGC chr6:42880956-Variant-T;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Variant T gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt CAGCTGTTGCGA CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAcagctgttgcgaAGATCGAGACCCGACGC chr6:42880956-Variant-T;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Variant T gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt ACTACGCCTTAT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAactacgccttatAGATCGAGACCCGACGC chr6:42880956-Variant-T;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Variant T gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt AAGTTCGACACT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtTtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAaagttcgacactAGATCGAGACCCGACGC chr6:42880956-Variant-T;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative G gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt AGTTGAACCTGT CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAagttgaacctgtAGATCGAGACCCGACGC chr6:42880956-Alternative-G;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative G gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt AATGTCGTAGTC CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAaatgtcgtagtcAGATCGAGACCCGACGC chr6:42880956-Alternative-G;Patient-95 chr6:42880956-AT DeNovo Patient-95 intergenic NA 3.98e-05 -0.44 0.14 -0.3 PEX6 66024 Alternative G gatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagt ACTAGGCTTACA CGACGCGGTCTCTCTCTgatggatgatggtgatggttgcacagcagtatgaatggccactgaaatgtGtgcttacaaatggttaggatggccaggtatggaagcatgcccctgtagtAGAGGGAGACGGACGTCTCAATAAactaggcttacaAGATCGAGACCCGACGC chr6:42880956-Alternative-G;Patient-95 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative T acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcg GCGCTAGATCGA CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAgcgctagatcgaAGATCGAGACCCGACGC chr6:43823008-Alternative-T;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Variant G acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcg CATGTGACTAGT CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAcatgtgactagtAGATCGAGACCCGACGC chr6:43823008-Variant-G;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Reference A acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcg GCACGGTTAATT CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAgcacggttaattAGATCGAGACCCGACGC chr6:43823008-Reference-A;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Reference A acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcg AAGTGTACATGG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAaagtgtacatggAGATCGAGACCCGACGC chr6:43823008-Reference-A;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative C acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACACGGTCTATA CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacacggtctataAGATCGAGACCCGACGC chr6:43823008-Alternative-C;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Reference A acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcg CTCGTTGTATCA CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAActcgttgtatcaAGATCGAGACCCGACGC chr6:43823008-Reference-A;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative T acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcg GACGGTAACGAC CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAgacggtaacgacAGATCGAGACCCGACGC chr6:43823008-Alternative-T;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Variant G acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACACCAACCAAT CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacaccaaccaatAGATCGAGACCCGACGC chr6:43823008-Variant-G;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative C acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACGGCTGGTCTA CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacggctggtctaAGATCGAGACCCGACGC chr6:43823008-Alternative-C;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative T acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcg CGACTGAAGACA CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAcgactgaagacaAGATCGAGACCCGACGC chr6:43823008-Alternative-T;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Reference A acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACTCGGCTTATT CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAactcggcttattAGATCGAGACCCGACGC chr6:43823008-Reference-A;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative T acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcg ATCTAGCTGCGG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAatctagctgcggAGATCGAGACCCGACGC chr6:43823008-Alternative-T;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Variant G acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcg AATGAGCGCGAC CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAaatgagcgcgacAGATCGAGACCCGACGC chr6:43823008-Variant-G;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Reference A acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcg CTAATGACGAAG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtAtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAActaatgacgaagAGATCGAGACCCGACGC chr6:43823008-Reference-A;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative T acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACGAATCCGACC CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtTtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacgaatccgaccAGATCGAGACCCGACGC chr6:43823008-Alternative-T;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative C acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcg ATCATACTGGAC CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAatcatactggacAGATCGAGACCCGACGC chr6:43823008-Alternative-C;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative C acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACACCTCTCAAT CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacacctctcaatAGATCGAGACCCGACGC chr6:43823008-Alternative-C;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Variant G acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACTCTTCGTACG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAactcttcgtacgAGATCGAGACCCGACGC chr6:43823008-Variant-G;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Variant G acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcg CAACTGGTAACG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtGtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAcaactggtaacgAGATCGAGACCCGACGC chr6:43823008-Variant-G;Patient-3 chr6:43823008-AG DeNovo Patient-3 intergenic NA 0.000513 -0.09 1.49 -2.68 VEGFA 85061 Alternative C acaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcg ACCTAAGATTCG CGACGCGGTCTCTCTCTacaagtggatggcaaagaagcagatcatttttctctagtatggtacgagtCtgccaagggattataggggataggagggggacctgcttcagtcttagcgAGAGGGAGACGGACGTCTCAATAAacctaagattcgAGATCGAGACCCGACGC chr6:43823008-Alternative-C;Patient-3 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Reference G tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GGCCATTGTACG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAggccattgtacgAGATCGAGACCCGACGC chr6:44290671-Reference-G;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Reference G tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CGGAATGACGAC CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAcggaatgacgacAGATCGAGACCCGACGC chr6:44290671-Reference-G;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Reference G tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GTTCATCGGCGA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgttcatcggcgaAGATCGAGACCCGACGC chr6:44290671-Reference-G;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Variant T tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GACCGTGCTCTA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgaccgtgctctaAGATCGAGACCCGACGC chr6:44290671-Variant-T;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Variant T tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CGTTCCGGTCAA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAcgttccggtcaaAGATCGAGACCCGACGC chr6:44290671-Variant-T;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Variant T tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GAGCTGACCTGT CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgagctgacctgtAGATCGAGACCCGACGC chr6:44290671-Variant-T;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Reference G tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CGCGCCAATAAG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAcgcgccaataagAGATCGAGACCCGACGC chr6:44290671-Reference-G;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Reference G tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg ACCTTCTACTTC CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatGaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAaccttctacttcAGATCGAGACCCGACGC chr6:44290671-Reference-G;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative A tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GCAACCACGAAC CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgcaaccacgaacAGATCGAGACCCGACGC chr6:44290671-Alternative-A;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Variant T tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg ACCGTACGCAAG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAaccgtacgcaagAGATCGAGACCCGACGC chr6:44290671-Variant-T;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative C tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg AGGTGTCTATCA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAaggtgtctatcaAGATCGAGACCCGACGC chr6:44290671-Alternative-C;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Variant T tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CAAGTTAGACCT CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatTaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAcaagttagacctAGATCGAGACCCGACGC chr6:44290671-Variant-T;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative A tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CAATAGTCGGAA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAcaatagtcggaaAGATCGAGACCCGACGC chr6:44290671-Alternative-A;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative C tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GGAGACATGCGT CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAggagacatgcgtAGATCGAGACCCGACGC chr6:44290671-Alternative-C;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative C tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg ATTGCGTCTAAG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAattgcgtctaagAGATCGAGACCCGACGC chr6:44290671-Alternative-C;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative A tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GAATCGGTGGAC CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgaatcggtggacAGATCGAGACCCGACGC chr6:44290671-Alternative-A;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative A tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg ATCATCGCAGAA CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAatcatcgcagaaAGATCGAGACCCGACGC chr6:44290671-Alternative-A;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative C tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg GTTATACTGACG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAgttatactgacgAGATCGAGACCCGACGC chr6:44290671-Alternative-C;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative C tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg CTTATACCAAGG CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatCaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAActtataccaaggAGATCGAGACCCGACGC chr6:44290671-Alternative-C;Patient-27 chr6:44290671-GT DeNovo Patient-27 intergenic NA 0.000513 0.15 5.12 0.24 AARS2 9607 Alternative A tcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatg ATTGTGTCGTTC CGACGCGGTCTCTCTCTtcctgatacgtgctacaatggggatggacctcgaaaacattactctaaatAaaagaagccagacataaaagggcatatgttgtatgatttcacttatatgAGAGGGAGACGGACGTCTCAATAAattgtgtcgttcAGATCGAGACCCGACGC chr6:44290671-Alternative-A;Patient-27 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative C tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc AGCGGTGTGCTT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAagcggtgtgcttAGATCGAGACCCGACGC chr6:44304136-Alternative-C;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Variant A tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GTCTATCGCGAG CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgtctatcgcgagAGATCGAGACCCGACGC chr6:44304136-Variant-A;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative C tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc AATAGGAGCGCG CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAaataggagcgcgAGATCGAGACCCGACGC chr6:44304136-Alternative-C;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Reference G tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GCATCACAAGTT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgcatcacaagttAGATCGAGACCCGACGC chr6:44304136-Reference-G;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative T tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc CTTATTCAAGCG CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAActtattcaagcgAGATCGAGACCCGACGC chr6:44304136-Alternative-T;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Variant A tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc ACGACTAAGCTT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAacgactaagcttAGATCGAGACCCGACGC chr6:44304136-Variant-A;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative T tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GGCGGTAGAATA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAggcggtagaataAGATCGAGACCCGACGC chr6:44304136-Alternative-T;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative C tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc CGATATACCGCA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAcgatataccgcaAGATCGAGACCCGACGC chr6:44304136-Alternative-C;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Reference G tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc AGACGGTGTAAT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAagacggtgtaatAGATCGAGACCCGACGC chr6:44304136-Reference-G;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Reference G tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc ACCGCAGAACAC CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAaccgcagaacacAGATCGAGACCCGACGC chr6:44304136-Reference-G;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative T tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GATGACGGACGT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgatgacggacgtAGATCGAGACCCGACGC chr6:44304136-Alternative-T;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Variant A tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc CGCATTGAATGA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAcgcattgaatgaAGATCGAGACCCGACGC chr6:44304136-Variant-A;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative T tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc CTGCTGCGTGAA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAActgctgcgtgaaAGATCGAGACCCGACGC chr6:44304136-Alternative-T;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Reference G tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc AGCAGCAATCCT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAagcagcaatcctAGATCGAGACCCGACGC chr6:44304136-Reference-G;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative C tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc CAAGATCACGGT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAcaagatcacggtAGATCGAGACCCGACGC chr6:44304136-Alternative-C;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Reference G tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc AGGCACCTATCA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaGccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAaggcacctatcaAGATCGAGACCCGACGC chr6:44304136-Reference-G;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Variant A tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GACGTATACGCT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgacgtatacgctAGATCGAGACCCGACGC chr6:44304136-Variant-A;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Variant A tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GTACGGAGATAA CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaAccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgtacggagataaAGATCGAGACCCGACGC chr6:44304136-Variant-A;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative T tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc GCGACAACAGGT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaTccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAgcgacaacaggtAGATCGAGACCCGACGC chr6:44304136-Alternative-T;Patient-59 chr6:44304136-GA DeNovo Patient-59 intergenic NA 0.000513 0.11 4.5 1.82 AARS2 23072 Alternative C tgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttc ATAGGCGTAGAT CGACGCGGTCTCTCTCTtgaaatttcttctattggtttctctcctccactcttccccaagagaacaaCccaaatactgtacaggtcctcttgcatcagagttgagtgtttgtacttcAGAGGGAGACGGACGTCTCAATAAataggcgtagatAGATCGAGACCCGACGC chr6:44304136-Alternative-C;Patient-59 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative T ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CTGAACCTTGAA CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAActgaaccttgaaAGATCGAGACCCGACGC chr6:44304336-Alternative-T;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Reference G ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctag ACGCTCTAGCGA CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAacgctctagcgaAGATCGAGACCCGACGC chr6:44304336-Reference-G;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Reference G ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctag AGACCGATCTAC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAagaccgatctacAGATCGAGACCCGACGC chr6:44304336-Reference-G;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Reference G ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CTTAATGCGGTT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAActtaatgcggttAGATCGAGACCCGACGC chr6:44304336-Reference-G;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative T ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctag AGTAGGTCGCGT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAagtaggtcgcgtAGATCGAGACCCGACGC chr6:44304336-Alternative-T;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Reference G ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CTCAAGCGGTTC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAActcaagcggttcAGATCGAGACCCGACGC chr6:44304336-Reference-G;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Reference G ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CACACGAATAGT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccGtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAcacacgaatagtAGATCGAGACCCGACGC chr6:44304336-Reference-G;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative T ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctag ACTCGGAGTCGT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAactcggagtcgtAGATCGAGACCCGACGC chr6:44304336-Alternative-T;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Variant A ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctag ACGCCGTGAATC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAacgccgtgaatcAGATCGAGACCCGACGC chr6:44304336-Variant-A;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Variant A ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CTTGTCGAACTT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAActtgtcgaacttAGATCGAGACCCGACGC chr6:44304336-Variant-A;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative T ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctag GATCGTCGTAAT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAgatcgtcgtaatAGATCGAGACCCGACGC chr6:44304336-Alternative-T;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative C ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctag GTCTCTGGCTGT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAgtctctggctgtAGATCGAGACCCGACGC chr6:44304336-Alternative-C;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Variant A ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctag ACGTCAGAATGA CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAacgtcagaatgaAGATCGAGACCCGACGC chr6:44304336-Variant-A;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative T ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CGTTCGCCTAAC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccTtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAcgttcgcctaacAGATCGAGACCCGACGC chr6:44304336-Alternative-T;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative C ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctag AAGCGTATAGTC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAaagcgtatagtcAGATCGAGACCCGACGC chr6:44304336-Alternative-C;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative C ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CGTTGGCTTGCT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAcgttggcttgctAGATCGAGACCCGACGC chr6:44304336-Alternative-C;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Variant A ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CTGAGCGCTCTA CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAActgagcgctctaAGATCGAGACCCGACGC chr6:44304336-Variant-A;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative C ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctag GGTTGCGCTAAC CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAggttgcgctaacAGATCGAGACCCGACGC chr6:44304336-Alternative-C;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Variant A ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctag CGAACCTACAAT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccAtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAcgaacctacaatAGATCGAGACCCGACGC chr6:44304336-Variant-A;Patient-22 chr6:44304336-GA Inherited Patient-22 intergenic 0.00035 0.000513 -0.56 0.06 -4.39 CDC5L 50914 Alternative C ttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctag GCCAATTGCATT CGACGCGGTCTCTCTCTttattcatgaatcctctcaaccttatgagggaagtactattatgatctccCtttacagatgaggaaactgaggctcacaggggctgaataacttacctagAGAGGGAGACGGACGTCTCAATAAgccaattgcattAGATCGAGACCCGACGC chr6:44304336-Alternative-C;Patient-22 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative C ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GTATCCATAACG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAgtatccataacgAGATCGAGACCCGACGC chr6:44366466-Alternative-C;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative G ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AGCGTATATGAG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAagcgtatatgagAGATCGAGACCCGACGC chr6:44366466-Alternative-G;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative G ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GCGGTACTTGCT CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAgcggtacttgctAGATCGAGACCCGACGC chr6:44366466-Alternative-G;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative C ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GGACGTATCGTC CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAggacgtatcgtcAGATCGAGACCCGACGC chr6:44366466-Alternative-C;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative G ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CAATTAGGTCGT CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcaattaggtcgtAGATCGAGACCCGACGC chr6:44366466-Alternative-G;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Reference A ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CGAACAGTAAGG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcgaacagtaaggAGATCGAGACCCGACGC chr6:44366466-Reference-A;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Variant T ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AGTTGGACGGCA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAagttggacggcaAGATCGAGACCCGACGC chr6:44366466-Variant-T;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Reference A ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AAGATAGACGAG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAaagatagacgagAGATCGAGACCCGACGC chr6:44366466-Reference-A;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative C ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattacttta ATCCGGTAAGAA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAatccggtaagaaAGATCGAGACCCGACGC chr6:44366466-Alternative-C;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Variant T ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CAGGTACGTAGG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcaggtacgtaggAGATCGAGACCCGACGC chr6:44366466-Variant-T;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Reference A ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AGTTCAAGACGA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAagttcaagacgaAGATCGAGACCCGACGC chr6:44366466-Reference-A;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Reference A ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AATCAATCTGCG CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAaatcaatctgcgAGATCGAGACCCGACGC chr6:44366466-Reference-A;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Variant T ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GCATCCGGTAGA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAgcatccggtagaAGATCGAGACCCGACGC chr6:44366466-Variant-T;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Variant T ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CATCTCACAATC CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcatctcacaatcAGATCGAGACCCGACGC chr6:44366466-Variant-T;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Variant T ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GATCGCTAAGAA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaTtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAgatcgctaagaaAGATCGAGACCCGACGC chr6:44366466-Variant-T;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative C ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattacttta AGTTGGTCTTGA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAagttggtcttgaAGATCGAGACCCGACGC chr6:44366466-Alternative-C;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Reference A ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CGTTCTCCTACC CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaAtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcgttctcctaccAGATCGAGACCCGACGC chr6:44366466-Reference-A;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative G ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GAGTATAGTCGA CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAgagtatagtcgaAGATCGAGACCCGACGC chr6:44366466-Alternative-G;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative C ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattacttta CGCCGATTGGAT CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaCtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAcgccgattggatAGATCGAGACCCGACGC chr6:44366466-Alternative-C;Patient-101 chr6:44366466-AT DeNovo Patient-101 intronic CDC5L NA 4.95e-05 0.1 4.33 0.91 CDC5L 11214 Alternative G ctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattacttta GGTAAGCGTAAT CGACGCGGTCTCTCTCTctatatggcttggttatattcatttagcattattgtgtaaaggttttctaGtgtggattgaagtccttatttccattatttaaagaatgaaattactttaAGAGGGAGACGGACGTCTCAATAAggtaagcgtaatAGATCGAGACCCGACGC chr6:44366466-Alternative-G;Patient-101 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Reference G tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcag GAAGTTGGTGAT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAgaagttggtgatAGATCGAGACCCGACGC chr6:49407211-Reference-G;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Reference G tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcag ATCGCGTAACTT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAatcgcgtaacttAGATCGAGACCCGACGC chr6:49407211-Reference-G;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative A tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcag ACGTGCAACATC CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAacgtgcaacatcAGATCGAGACCCGACGC chr6:49407211-Alternative-A;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Reference G tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcag GCGATTATGACC CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAgcgattatgaccAGATCGAGACCCGACGC chr6:49407211-Reference-G;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative T tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcag ACTTGCGTTAAG CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAacttgcgttaagAGATCGAGACCCGACGC chr6:49407211-Alternative-T;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Reference G tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcag CGAATCGCATCA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcgaatcgcatcaAGATCGAGACCCGACGC chr6:49407211-Reference-G;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Reference G tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcag ATCGTTCGCAGA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgGacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAatcgttcgcagaAGATCGAGACCCGACGC chr6:49407211-Reference-G;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Variant C tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcag ACTCTCGATGAA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAactctcgatgaaAGATCGAGACCCGACGC chr6:49407211-Variant-C;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative A tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcag CAGCAACGAGCA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcagcaacgagcaAGATCGAGACCCGACGC chr6:49407211-Alternative-A;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative A tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcag CATGCGCTAAGG CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcatgcgctaaggAGATCGAGACCCGACGC chr6:49407211-Alternative-A;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Variant C tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcag CTAATAACGCGA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAActaataacgcgaAGATCGAGACCCGACGC chr6:49407211-Variant-C;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative T tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcag CGTATCCTGGAG CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcgtatcctggagAGATCGAGACCCGACGC chr6:49407211-Alternative-T;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative A tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcag CATAAGACGCAA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcataagacgcaaAGATCGAGACCCGACGC chr6:49407211-Alternative-A;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Variant C tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcag GTGCTCAATAGT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAgtgctcaatagtAGATCGAGACCCGACGC chr6:49407211-Variant-C;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative A tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcag AGTCGCTTAAGT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgAacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAagtcgcttaagtAGATCGAGACCCGACGC chr6:49407211-Alternative-A;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative T tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcag AATGATCCTGGT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAaatgatcctggtAGATCGAGACCCGACGC chr6:49407211-Alternative-T;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Variant C tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcag CGCGGAACGTAA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAcgcggaacgtaaAGATCGAGACCCGACGC chr6:49407211-Variant-C;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Variant C tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcag AAGATTGGTGCA CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgCacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAaagattggtgcaAGATCGAGACCCGACGC chr6:49407211-Variant-C;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative T tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcag GGATCTTCTGTT CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAggatcttctgttAGATCGAGACCCGACGC chr6:49407211-Alternative-T;Patient-79 chr6:49407211-GC DeNovo Patient-79 intronic MUT 3.2e-05 0.000126 0.56 9.91 0.23 MUT 23829 Alternative T tctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcag ACAGCGTGGTAC CGACGCGGTCTCTCTCTtctgctgggtcatatggcccaagtggcagagtagcttgcacagcagcctgTacctgttgcagagccttctcctattctggaccccactcaaaactggcagAGAGGGAGACGGACGTCTCAATAAacagcgtggtacAGATCGAGACCCGACGC chr6:49407211-Alternative-T;Patient-79 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Reference T gctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgcc GCGCTCACATCA CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgcgctcacatcaAGATCGAGACCCGACGC chr6:49737185-Reference-T;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Reference T gctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgcc CTACGTAACAGG CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAActacgtaacaggAGATCGAGACCCGACGC chr6:49737185-Reference-T;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative G gctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgcc AGGCTGTTAACT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAaggctgttaactAGATCGAGACCCGACGC chr6:49737185-Alternative-G;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative G gctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgcc ACAAGACCGATA CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAacaagaccgataAGATCGAGACCCGACGC chr6:49737185-Alternative-G;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Reference T gctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgcc GTGATCCTTACG CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgtgatccttacgAGATCGAGACCCGACGC chr6:49737185-Reference-T;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Reference T gctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgcc AGTACCAGACGC CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAagtaccagacgcAGATCGAGACCCGACGC chr6:49737185-Reference-T;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Reference T gctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgcc GACTGATTGTGA CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataTattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgactgattgtgaAGATCGAGACCCGACGC chr6:49737185-Reference-T;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative A gctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgcc ACTCACACGGTT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAactcacacggttAGATCGAGACCCGACGC chr6:49737185-Alternative-A;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative G gctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgcc GATCGTAGTATC CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgatcgtagtatcAGATCGAGACCCGACGC chr6:49737185-Alternative-G;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Variant C gctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgcc ATTCTCGTCCGG CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAattctcgtccggAGATCGAGACCCGACGC chr6:49737185-Variant-C;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative A gctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgcc CGTGATATGCCT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAcgtgatatgcctAGATCGAGACCCGACGC chr6:49737185-Alternative-A;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative A gctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgcc CTCATACGGAGT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAActcatacggagtAGATCGAGACCCGACGC chr6:49737185-Alternative-A;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative A gctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgcc AATGGTGTGGAG CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAaatggtgtggagAGATCGAGACCCGACGC chr6:49737185-Alternative-A;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative G gctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgcc GTGCTCGGATGT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgtgctcggatgtAGATCGAGACCCGACGC chr6:49737185-Alternative-G;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Variant C gctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgcc CAAGGAATGGTT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAcaaggaatggttAGATCGAGACCCGACGC chr6:49737185-Variant-C;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative A gctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgcc CGTACGACGCAT CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataAattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAcgtacgacgcatAGATCGAGACCCGACGC chr6:49737185-Alternative-A;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Variant C gctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgcc AGCGGCATGACA CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAagcggcatgacaAGATCGAGACCCGACGC chr6:49737185-Variant-C;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Alternative G gctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgcc GTCATCGGATGC CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataGattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAgtcatcggatgcAGATCGAGACCCGACGC chr6:49737185-Alternative-G;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Variant C gctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgcc AGTGCCGTACGA CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAagtgccgtacgaAGATCGAGACCCGACGC chr6:49737185-Variant-C;Patient-32 chr6:49737185-TC DeNovo Patient-32 intergenic NA 0.000513 -0.05 1.95 -0.71 CRISP3 25016 Variant C gctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgcc ACGTAGAGCAAG CGACGCGGTCTCTCTCTgctaaacatttttttttaagattgatgttaataacataatatataacataCattatctgttttctaatccatcccttaacatggatacacagtccatgccAGAGGGAGACGGACGTCTCAATAAacgtagagcaagAGATCGAGACCCGACGC chr6:49737185-Variant-C;Patient-32 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative T ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatac CAACCTATCGCG CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAcaacctatcgcgAGATCGAGACCCGACGC chr6:49789632-Alternative-T;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Reference A ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatac ACTTCGATCGGC CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAacttcgatcggcAGATCGAGACCCGACGC chr6:49789632-Reference-A;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Reference A ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatac AAGTCAGAACAC CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAaagtcagaacacAGATCGAGACCCGACGC chr6:49789632-Reference-A;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative C ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatac CGCTATCGGTGT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAcgctatcggtgtAGATCGAGACCCGACGC chr6:49789632-Alternative-C;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative C ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatac GCGATACCGTGT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAgcgataccgtgtAGATCGAGACCCGACGC chr6:49789632-Alternative-C;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative C ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatac CTCTGATGATGA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAActctgatgatgaAGATCGAGACCCGACGC chr6:49789632-Alternative-C;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Variant G ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatac CACGAGCGAATA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAcacgagcgaataAGATCGAGACCCGACGC chr6:49789632-Variant-G;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Variant G ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatac AGCCACCGATGT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAagccaccgatgtAGATCGAGACCCGACGC chr6:49789632-Variant-G;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Reference A ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatac CGCTATTGGTAA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAcgctattggtaaAGATCGAGACCCGACGC chr6:49789632-Reference-A;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Reference A ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatac CGAATGGACGAA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAcgaatggacgaaAGATCGAGACCCGACGC chr6:49789632-Reference-A;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Variant G ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatac CTTAGTTACAGG CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAActtagttacaggAGATCGAGACCCGACGC chr6:49789632-Variant-G;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative C ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatac ATAGCGTGCAGT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAatagcgtgcagtAGATCGAGACCCGACGC chr6:49789632-Alternative-C;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative C ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatac GCGGTCTAAGTC CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaCttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAgcggtctaagtcAGATCGAGACCCGACGC chr6:49789632-Alternative-C;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative T ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatac GGTGACGTTCGT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAggtgacgttcgtAGATCGAGACCCGACGC chr6:49789632-Alternative-T;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative T ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatac AGATTCTCGTCC CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAagattctcgtccAGATCGAGACCCGACGC chr6:49789632-Alternative-T;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Reference A ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatac AAGTAGTGGACG CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaAttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAaagtagtggacgAGATCGAGACCCGACGC chr6:49789632-Reference-A;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Variant G ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatac GATAATACGGAC CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAgataatacggacAGATCGAGACCCGACGC chr6:49789632-Variant-G;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Variant G ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatac GGACGTACAGAA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaGttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAggacgtacagaaAGATCGAGACCCGACGC chr6:49789632-Variant-G;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative T ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatac GCGTAAGCACGA CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAAgcgtaagcacgaAGATCGAGACCCGACGC chr6:49789632-Alternative-T;Patient-67 chr6:49789632-AG DeNovo Patient-67 intergenic 0.000161 3.92e-05 -0.17 0.86 -1.71 CRISP3 77463 Alternative T ctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatac CTCAAGCGAATT CGACGCGGTCTCTCTCTctacagtgcattgcactctacagtgcaatgcagaacaactttttttttaaTttaagagattcttattctatcactttgtggaaagataagtaatgcatacAGAGGGAGACGGACGTCTCAATAActcaagcgaattAGATCGAGACCCGACGC chr6:49789632-Alternative-T;Patient-67 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative A tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GAGGTGTAACTA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgaggtgtaactaAGATCGAGACCCGACGC chr6:52175301-Alternative-A;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative A tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ACTCGCCTATAC CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAactcgcctatacAGATCGAGACCCGACGC chr6:52175301-Alternative-A;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Variant T tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GTCGTCGACGAT CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgtcgtcgacgatAGATCGAGACCCGACGC chr6:52175301-Variant-T;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative A tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg AGGTGGTCTAGG CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAaggtggtctaggAGATCGAGACCCGACGC chr6:52175301-Alternative-A;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative A tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GTAGGACGTATA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgtaggacgtataAGATCGAGACCCGACGC chr6:52175301-Alternative-A;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative C tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GCAATGTGCCGT CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgcaatgtgccgtAGATCGAGACCCGACGC chr6:52175301-Alternative-C;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Variant T tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ACGTTATCTGCT CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAacgttatctgctAGATCGAGACCCGACGC chr6:52175301-Variant-T;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Variant T tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg CTCGCCTAGCAA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAActcgcctagcaaAGATCGAGACCCGACGC chr6:52175301-Variant-T;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative C tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg CATCGTGGTGCA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAcatcgtggtgcaAGATCGAGACCCGACGC chr6:52175301-Alternative-C;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative C tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GGAGGTTCGTCT CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAggaggttcgtctAGATCGAGACCCGACGC chr6:52175301-Alternative-C;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative A tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ATCTCAGAATCG CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctAcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAatctcagaatcgAGATCGAGACCCGACGC chr6:52175301-Alternative-A;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Variant T tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GTGGCTATCACG CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgtggctatcacgAGATCGAGACCCGACGC chr6:52175301-Variant-T;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Reference G tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ACGAGCTAATGA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAacgagctaatgaAGATCGAGACCCGACGC chr6:52175301-Reference-G;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative C tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg CGTACTCGATAA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAcgtactcgataaAGATCGAGACCCGACGC chr6:52175301-Alternative-C;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Variant T tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg AGCTGGACAACT CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctTcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAagctggacaactAGATCGAGACCCGACGC chr6:52175301-Variant-T;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Reference G tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GATGCCTATATC CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgatgcctatatcAGATCGAGACCCGACGC chr6:52175301-Reference-G;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Alternative C tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ATTGAGTCGCGA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctCcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAattgagtcgcgaAGATCGAGACCCGACGC chr6:52175301-Alternative-C;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Reference G tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg GCGAGATACGCA CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAgcgagatacgcaAGATCGAGACCCGACGC chr6:52175301-Reference-G;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Reference G tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg ATCGCGCTTAGG CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAatcgcgcttaggAGATCGAGACCCGACGC chr6:52175301-Reference-G;Patient-41 chr6:52175301-GT DeNovo Patient-41 intergenic NA 0.000513 -0.54 0.06 -0.86 MCM3 25621 Reference G tgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggg CATTACACCGCG CGACGCGGTCTCTCTCTtgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctGcctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggAGAGGGAGACGGACGTCTCAATAAcattacaccgcgAGATCGAGACCCGACGC chr6:52175301-Reference-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Reference C gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga ACCGGTATACAC CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAaccggtatacacAGATCGAGACCCGACGC chr6:52175302-Reference-C;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative G gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga ACGCGTTACCGT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAacgcgttaccgtAGATCGAGACCCGACGC chr6:52175302-Alternative-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative G gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GTCAACGAGATA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgtcaacgagataAGATCGAGACCCGACGC chr6:52175302-Alternative-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Reference C gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga CATCGGCCATCA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAcatcggccatcaAGATCGAGACCCGACGC chr6:52175302-Reference-C;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Reference C gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GCGACTTGATTA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgcgacttgattaAGATCGAGACCCGACGC chr6:52175302-Reference-C;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Variant T gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga ATCGACGTGAAT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAatcgacgtgaatAGATCGAGACCCGACGC chr6:52175302-Variant-T;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative G gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga AGGCGGTTGACT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAaggcggttgactAGATCGAGACCCGACGC chr6:52175302-Alternative-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative G gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GTTGGCGTCACT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgttggcgtcactAGATCGAGACCCGACGC chr6:52175302-Alternative-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Reference C gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga AGTAGAGCTCGG CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAagtagagctcggAGATCGAGACCCGACGC chr6:52175302-Reference-C;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative G gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GAATGACGCCGA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgGctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgaatgacgccgaAGATCGAGACCCGACGC chr6:52175302-Alternative-G;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative A gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga CTGCATCGTGCT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAActgcatcgtgctAGATCGAGACCCGACGC chr6:52175302-Alternative-A;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative A gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GAGATCTACCGG CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgagatctaccggAGATCGAGACCCGACGC chr6:52175302-Alternative-A;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative A gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga AAGATTGTGACG CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAaagattgtgacgAGATCGAGACCCGACGC chr6:52175302-Alternative-A;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Reference C gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga CTGCGTGGACAT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgCctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAActgcgtggacatAGATCGAGACCCGACGC chr6:52175302-Reference-C;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Variant T gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GCCGGTATAACT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgccggtataactAGATCGAGACCCGACGC chr6:52175302-Variant-T;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative A gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga AACACGCTCTAA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAaacacgctctaaAGATCGAGACCCGACGC chr6:52175302-Alternative-A;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Variant T gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga CTATGATAGCCA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAActatgatagccaAGATCGAGACCCGACGC chr6:52175302-Variant-T;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Alternative A gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga CTCGGACTGTCA CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgActcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAActcggactgtcaAGATCGAGACCCGACGC chr6:52175302-Alternative-A;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Variant T gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga GAAGTTACCAAG CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAgaagttaccaagAGATCGAGACCCGACGC chr6:52175302-Variant-T;Patient-41 chr6:52175302-CT DeNovo Patient-41 intergenic NA 0.000513 -0.28 0.43 -0.86 MCM3 25622 Variant T gccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctggga AGAGTAGATGCT CGACGCGGTCTCTCTCTgccaggctagagtgcaatggcacaatgatcttgactcactgtaatttctgTctcccaggttcaagcgattctcctgcctcagcctcctgggtagctgggaAGAGGGAGACGGACGTCTCAATAAagagtagatgctAGATCGAGACCCGACGC chr6:52175302-Variant-T;Patient-41 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative A tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GCGTGTACTGAC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgcgtgtactgacAGATCGAGACCCGACGC chr6:52904092-Alternative-A;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Variant T tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa CAGTTGTTGCTT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAcagttgttgcttAGATCGAGACCCGACGC chr6:52904092-Variant-T;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative A tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GCCGTAGTATAT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgccgtagtatatAGATCGAGACCCGACGC chr6:52904092-Alternative-A;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative A tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa CGAACGACCATC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAcgaacgaccatcAGATCGAGACCCGACGC chr6:52904092-Alternative-A;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative G tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GGTCGCATAAGT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAggtcgcataagtAGATCGAGACCCGACGC chr6:52904092-Alternative-G;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Variant T tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa ACTAGCTTGACA CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAactagcttgacaAGATCGAGACCCGACGC chr6:52904092-Variant-T;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative A tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GTTGACGGTATT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgttgacggtattAGATCGAGACCCGACGC chr6:52904092-Alternative-A;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Variant T tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa AATCAAGAACGC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAaatcaagaacgcAGATCGAGACCCGACGC chr6:52904092-Variant-T;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative A tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa AATAGGCGCCAC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaAgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAaataggcgccacAGATCGAGACCCGACGC chr6:52904092-Alternative-A;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative G tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GTACCTCGGTCT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgtacctcggtctAGATCGAGACCCGACGC chr6:52904092-Alternative-G;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative G tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa AACAGCTACGCG CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAaacagctacgcgAGATCGAGACCCGACGC chr6:52904092-Alternative-G;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Variant T tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa ACAAGCAGGTAC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAacaagcaggtacAGATCGAGACCCGACGC chr6:52904092-Variant-T;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Reference C tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa AACAACGCGTCG CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAaacaacgcgtcgAGATCGAGACCCGACGC chr6:52904092-Reference-C;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Reference C tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GCATAGTTATGG CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgcatagttatggAGATCGAGACCCGACGC chr6:52904092-Reference-C;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Reference C tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa AATGACCGGTAA CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAaatgaccggtaaAGATCGAGACCCGACGC chr6:52904092-Reference-C;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Variant T tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa CGTCGCGTGTAA CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaTgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAcgtcgcgtgtaaAGATCGAGACCCGACGC chr6:52904092-Variant-T;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative G tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa ACTACGAGTAAC CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAactacgagtaacAGATCGAGACCCGACGC chr6:52904092-Alternative-G;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Alternative G tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa CATTACCGGTGG CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaGgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAcattaccggtggAGATCGAGACCCGACGC chr6:52904092-Alternative-G;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Reference C tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa GCGAAGCTCAGT CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAgcgaagctcagtAGATCGAGACCCGACGC chr6:52904092-Reference-C;Patient-61 chr6:52904092-CT Inherited Patient-61 intronic ICK 0.000541 0.000148 -1.11 0 -3.26 ICK 22507 Reference C tgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaa CGTCACCTTATA CGACGCGGTCTCTCTCTtgtaccaagtgctgtgaagaaaggaaaagggcctataaaagtgaacctgaCgggagcagtggctcagccaaatgatgcagcaatttgtaggtcacataaaAGAGGGAGACGGACGTCTCAATAAcgtcaccttataAGATCGAGACCCGACGC chr6:52904092-Reference-C;Patient-61 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative G cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CGTAGATTCGCG CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcgtagattcgcgAGATCGAGACCCGACGC chr6:53369140-Alternative-G;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Variant T cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccct GATCATTAGTCG CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAgatcattagtcgAGATCGAGACCCGACGC chr6:53369140-Variant-T;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative G cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccct ACGTCGCTAGCA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAacgtcgctagcaAGATCGAGACCCGACGC chr6:53369140-Alternative-G;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Variant T cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccct GCGAGAATAAGA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAgcgagaataagaAGATCGAGACCCGACGC chr6:53369140-Variant-T;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative G cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccct ATAGCGACCGAA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAatagcgaccgaaAGATCGAGACCCGACGC chr6:53369140-Alternative-G;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative G cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccct AATAACGCCGAT CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAaataacgccgatAGATCGAGACCCGACGC chr6:53369140-Alternative-G;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Variant T cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccct GCATCGAACGAC CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAgcatcgaacgacAGATCGAGACCCGACGC chr6:53369140-Variant-T;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative G cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CTCTACTCCGTC CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcGcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAActctactccgtcAGATCGAGACCCGACGC chr6:53369140-Alternative-G;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Variant T cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CAGATACCATAC CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcagataccatacAGATCGAGACCCGACGC chr6:53369140-Variant-T;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Variant T cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccct ACGCATAAGACA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcTcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAacgcataagacaAGATCGAGACCCGACGC chr6:53369140-Variant-T;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative A cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CTATGGTTGTCA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAActatggttgtcaAGATCGAGACCCGACGC chr6:53369140-Alternative-A;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Reference C cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CGTTATGAGGTT CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcgttatgaggttAGATCGAGACCCGACGC chr6:53369140-Reference-C;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative A cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccct GTAGTCACTTGA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAgtagtcacttgaAGATCGAGACCCGACGC chr6:53369140-Alternative-A;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative A cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CATGACCATCGA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcatgaccatcgaAGATCGAGACCCGACGC chr6:53369140-Alternative-A;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative A cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CAACTCCGGTCA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcaactccggtcaAGATCGAGACCCGACGC chr6:53369140-Alternative-A;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Reference C cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CTGTTAGTTGCT CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAActgttagttgctAGATCGAGACCCGACGC chr6:53369140-Reference-C;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Reference C cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccct CGACATACCAAT CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAcgacataccaatAGATCGAGACCCGACGC chr6:53369140-Reference-C;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Alternative A cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccct ATTGTGCGTCGC CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcAcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAattgtgcgtcgcAGATCGAGACCCGACGC chr6:53369140-Alternative-A;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Reference C cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccct AGCGGACATTAA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAagcggacattaaAGATCGAGACCCGACGC chr6:53369140-Reference-C;Patient-91 chr6:53369140-CT Inherited Patient-91 intronic GCLC NA 4.95e-05 -0.18 0.84 -0.22 GCLC 40786 Reference C cctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccct ATCGTCGGATTA CGACGCGGTCTCTCTCTcctcctgcctcagcctcctgaggagcagagattatagatttgcgctgggcCcagcttacttccttgaagtaactaagtttgactttacagagtatgccctAGAGGGAGACGGACGTCTCAATAAatcgtcggattaAGATCGAGACCCGACGC chr6:53369140-Reference-C;Patient-91 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative T atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattcta GGTTAGGTGGAT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAggttaggtggatAGATCGAGACCCGACGC chr6:55789834-Alternative-T;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative T atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattcta GGACCGAGTAAC CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAggaccgagtaacAGATCGAGACCCGACGC chr6:55789834-Alternative-T;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative C atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattcta GGCAGTTAGACG CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAggcagttagacgAGATCGAGACCCGACGC chr6:55789834-Alternative-C;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Reference A atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattcta CATGCTCTATCA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAcatgctctatcaAGATCGAGACCCGACGC chr6:55789834-Reference-A;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Reference A atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattcta AGATCCAACGAA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAagatccaacgaaAGATCGAGACCCGACGC chr6:55789834-Reference-A;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Variant G atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattcta GGCGTAAGGCAA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAggcgtaaggcaaAGATCGAGACCCGACGC chr6:55789834-Variant-G;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative T atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattcta AGACGGAGCATC CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAagacggagcatcAGATCGAGACCCGACGC chr6:55789834-Alternative-T;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Reference A atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattcta ACTATGCGACCA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAactatgcgaccaAGATCGAGACCCGACGC chr6:55789834-Reference-A;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Variant G atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattcta ATTACGACCGAT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAattacgaccgatAGATCGAGACCCGACGC chr6:55789834-Variant-G;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Reference A atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattcta ACCTACGCGTAC CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAacctacgcgtacAGATCGAGACCCGACGC chr6:55789834-Reference-A;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative C atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattcta GTACTCTAGTCT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAgtactctagtctAGATCGAGACCCGACGC chr6:55789834-Alternative-C;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Reference A atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattcta GTTGAGGACATA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaAtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAgttgaggacataAGATCGAGACCCGACGC chr6:55789834-Reference-A;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative T atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattcta CGCTCATTCATT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAcgctcattcattAGATCGAGACCCGACGC chr6:55789834-Alternative-T;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Variant G atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattcta CAGCTACGAATT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAcagctacgaattAGATCGAGACCCGACGC chr6:55789834-Variant-G;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative C atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattcta GACGCAATCTGG CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAgacgcaatctggAGATCGAGACCCGACGC chr6:55789834-Alternative-C;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Variant G atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattcta GTCGCAGATTAT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAgtcgcagattatAGATCGAGACCCGACGC chr6:55789834-Variant-G;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Variant G atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattcta AGGTGTATGTGA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaGtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAaggtgtatgtgaAGATCGAGACCCGACGC chr6:55789834-Variant-G;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative C atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattcta AGCGGACCACAT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAagcggaccacatAGATCGAGACCCGACGC chr6:55789834-Alternative-C;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative C atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattcta GGCGTGTCTGAA CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaCtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAggcgtgtctgaaAGATCGAGACCCGACGC chr6:55789834-Alternative-C;Patient-69 chr6:55789834-AG DeNovo Patient-69 intergenic 0.000637 0.001538462 0 2.64 -0.42 BMP5 49458 Alternative T atatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattcta ACAACAAGCGTT CGACGCGGTCTCTCTCTatatcaataattttctttatgattagcaatttttgtatcgtctttaggaaTtccttttctattctcaggccagaaagatgttttcctacaccttattctaAGAGGGAGACGGACGTCTCAATAAacaacaagcgttAGATCGAGACCCGACGC chr6:55789834-Alternative-T;Patient-69 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative T agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CTACCGTAACTT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAActaccgtaacttAGATCGAGACCCGACGC chr6:56743855-Alternative-T;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Reference C agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc AGCACGGCTTGT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAagcacggcttgtAGATCGAGACCCGACGC chr6:56743855-Reference-C;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative T agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc AGCAGACGCTGA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAagcagacgctgaAGATCGAGACCCGACGC chr6:56743855-Alternative-T;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Reference C agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc AACGCGTTAAGT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAaacgcgttaagtAGATCGAGACCCGACGC chr6:56743855-Reference-C;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative T agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CGTATGACCAAT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAcgtatgaccaatAGATCGAGACCCGACGC chr6:56743855-Alternative-T;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative T agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CTATTCTCCGAA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAActattctccgaaAGATCGAGACCCGACGC chr6:56743855-Alternative-T;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Variant G agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GACCGACCTAGA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAgaccgacctagaAGATCGAGACCCGACGC chr6:56743855-Variant-G;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative T agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CGGCTAATTACA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttTtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAcggctaattacaAGATCGAGACCCGACGC chr6:56743855-Alternative-T;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Variant G agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GGTTAACCGACC CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAggttaaccgaccAGATCGAGACCCGACGC chr6:56743855-Variant-G;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative A agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CTTATCTGCGAT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAActtatctgcgatAGATCGAGACCCGACGC chr6:56743855-Alternative-A;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative A agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CAATAGATGCCT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAcaatagatgcctAGATCGAGACCCGACGC chr6:56743855-Alternative-A;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative A agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CAGGAGCTACCT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAcaggagctacctAGATCGAGACCCGACGC chr6:56743855-Alternative-A;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative A agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GATCCGTGTGGT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAgatccgtgtggtAGATCGAGACCCGACGC chr6:56743855-Alternative-A;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Variant G agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CAAGGTTGCCAT CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAcaaggttgccatAGATCGAGACCCGACGC chr6:56743855-Variant-G;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Reference C agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc AGGTGGAGATGG CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAaggtggagatggAGATCGAGACCCGACGC chr6:56743855-Reference-C;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Reference C agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc AATATTAGGCGC CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAaatattaggcgcAGATCGAGACCCGACGC chr6:56743855-Reference-C;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Variant G agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc CTACCGCATATA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAActaccgcatataAGATCGAGACCCGACGC chr6:56743855-Variant-G;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Variant G agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GGTAGACCAATA CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttGtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAggtagaccaataAGATCGAGACCCGACGC chr6:56743855-Variant-G;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Alternative A agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GGCTGAGATACG CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttAtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAggctgagatacgAGATCGAGACCCGACGC chr6:56743855-Alternative-A;Patient-82 chr6:56743855-CG DeNovo Patient-82 intronic DST NA 4.95e-05 0.13 4.84 1.16 DST 75570 Reference C agtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtcc GTGCGATGTTCG CGACGCGGTCTCTCTCTagtagagagtgagttaaatggtaattagtgagaaagaacaaatttgatttCtctttgcactcgaatcaataaatagattatacacaaaaaaatgtggtccAGAGGGAGACGGACGTCTCAATAAgtgcgatgttcgAGATCGAGACCCGACGC chr6:56743855-Reference-C;Patient-82 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Reference C tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTCTATGCGCCT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActctatgcgcctAGATCGAGACCCGACGC chr6:57095648-Reference-C;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Reference C tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GGATGACTACGG CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAggatgactacggAGATCGAGACCCGACGC chr6:57095648-Reference-C;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Reference C tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTTGAGCGATGC CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActtgagcgatgcAGATCGAGACCCGACGC chr6:57095648-Reference-C;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Reference C tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GCCGAATTACTA CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAgccgaattactaAGATCGAGACCCGACGC chr6:57095648-Reference-C;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative A tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag AACCGACGAGCA CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAaaccgacgagcaAGATCGAGACCCGACGC chr6:57095648-Alternative-A;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Reference C tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTGTGGATCTGG CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcCcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActgtggatctggAGATCGAGACCCGACGC chr6:57095648-Reference-C;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative A tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GTGCGCATGTTC CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAgtgcgcatgttcAGATCGAGACCCGACGC chr6:57095648-Alternative-A;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Variant T tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag AGGTTCGTCTAA CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAaggttcgtctaaAGATCGAGACCCGACGC chr6:57095648-Variant-T;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Variant T tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTCACGTATCCT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActcacgtatcctAGATCGAGACCCGACGC chr6:57095648-Variant-T;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative A tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CGCTATGGTAAC CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAcgctatggtaacAGATCGAGACCCGACGC chr6:57095648-Alternative-A;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative G tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GACGCTCCTGTT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAgacgctcctgttAGATCGAGACCCGACGC chr6:57095648-Alternative-G;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative A tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTTGCGGTTGGT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActtgcggttggtAGATCGAGACCCGACGC chr6:57095648-Alternative-A;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Variant T tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GTCTCTGCGTGA CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAgtctctgcgtgaAGATCGAGACCCGACGC chr6:57095648-Variant-T;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Variant T tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag AGCACGGCAAGT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAagcacggcaagtAGATCGAGACCCGACGC chr6:57095648-Variant-T;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative G tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag GCAGTCAGTTCG CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAgcagtcagttcgAGATCGAGACCCGACGC chr6:57095648-Alternative-G;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Variant T tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag AGTGCTTCAGAT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcTcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAagtgcttcagatAGATCGAGACCCGACGC chr6:57095648-Variant-T;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative G tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CTCAAGCGCTGT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAActcaagcgctgtAGATCGAGACCCGACGC chr6:57095648-Alternative-G;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative G tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag ACTAGTGCACAT CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAactagtgcacatAGATCGAGACCCGACGC chr6:57095648-Alternative-G;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative G tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag AATGTGCTGCGC CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcGcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAaatgtgctgcgcAGATCGAGACCCGACGC chr6:57095648-Alternative-G;Patient-59 chr6:57095648-CT Inherited Patient-59 intergenic 3.2e-05 0.00205 -0.21 0.68 -1.54 RAB23 8535 Alternative A tctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaag CACGCTGATCCA CGACGCGGTCTCTCTCTtctacatcctttgtgcccagtttggttataagtatcttttacctcaactcAcagggttatggaggttggtgttcatgtctccaccactgagaagctgaagAGAGGGAGACGGACGTCTCAATAAcacgctgatccaAGATCGAGACCCGACGC chr6:57095648-Alternative-A;Patient-59 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative A gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CAGTACGTAGCT CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAcagtacgtagctAGATCGAGACCCGACGC chr6:57113610-Alternative-A;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative A gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa ACATAGGCGCAC CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAacataggcgcacAGATCGAGACCCGACGC chr6:57113610-Alternative-A;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Reference C gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CGCGTTAGTACG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAcgcgttagtacgAGATCGAGACCCGACGC chr6:57113610-Reference-C;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Reference C gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa AAGTTGATCCGA CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAaagttgatccgaAGATCGAGACCCGACGC chr6:57113610-Reference-C;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative A gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa ACCAATAACGGC CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAaccaataacggcAGATCGAGACCCGACGC chr6:57113610-Alternative-A;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Reference C gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CTCACCGATGAG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAActcaccgatgagAGATCGAGACCCGACGC chr6:57113610-Reference-C;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative A gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa AAGTTGGTCGCG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAaagttggtcgcgAGATCGAGACCCGACGC chr6:57113610-Alternative-A;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative A gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa ACGTGACTAAGA CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctAcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAacgtgactaagaAGATCGAGACCCGACGC chr6:57113610-Alternative-A;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Reference C gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa GATATTGGAACG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAgatattggaacgAGATCGAGACCCGACGC chr6:57113610-Reference-C;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Reference C gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa AGAACGCACCGA CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctCcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAagaacgcaccgaAGATCGAGACCCGACGC chr6:57113610-Reference-C;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative T gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa AACGCGCTCGAA CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAaacgcgctcgaaAGATCGAGACCCGACGC chr6:57113610-Alternative-T;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Variant G gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa AGTGTTCACGGC CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAagtgttcacggcAGATCGAGACCCGACGC chr6:57113610-Variant-G;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative T gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa ATCGGCGCTAGT CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAatcggcgctagtAGATCGAGACCCGACGC chr6:57113610-Alternative-T;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative T gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa GATGTAGTAGGT CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAgatgtagtaggtAGATCGAGACCCGACGC chr6:57113610-Alternative-T;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative T gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CGATAGCCGAAG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAcgatagccgaagAGATCGAGACCCGACGC chr6:57113610-Alternative-T;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Variant G gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa GCCAATCGACAC CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAgccaatcgacacAGATCGAGACCCGACGC chr6:57113610-Variant-G;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Variant G gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CGCCAATCGAAG CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAcgccaatcgaagAGATCGAGACCCGACGC chr6:57113610-Variant-G;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Variant G gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa GCGATTCCTATT CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAgcgattcctattAGATCGAGACCCGACGC chr6:57113610-Variant-G;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Variant G gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa CATGAGGTTGTT CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctGcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAcatgaggttgttAGATCGAGACCCGACGC chr6:57113610-Variant-G;Patient-79 chr6:57113610-CG DeNovo Patient-79 intergenic NA 0.000512821 -0.4 0.18 -0.45 RAB23 26497 Alternative T gaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaa GACCTAACCTAA CGACGCGGTCTCTCTCTgaaaagggagtagcctctgatatccagtcagcatgaatgagccttaggctTcctgcctccagaccctattctcctgcctcaatagcagtttgagataaaaAGAGGGAGACGGACGTCTCAATAAgacctaacctaaAGATCGAGACCCGACGC chr6:57113610-Alternative-T;Patient-79 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative T tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagt CTAGGTACGCCT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAActaggtacgcctAGATCGAGACCCGACGC chr6:57121695-Alternative-T;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Variant G tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagt ATAGCGTGCGCT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAatagcgtgcgctAGATCGAGACCCGACGC chr6:57121695-Variant-G;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Variant G tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagt GATGGTTGTAAC CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAgatggttgtaacAGATCGAGACCCGACGC chr6:57121695-Variant-G;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Reference A tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagt AGGTAACGAGGT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAaggtaacgaggtAGATCGAGACCCGACGC chr6:57121695-Reference-A;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative T tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagt CATGCTTCGCGA CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAcatgcttcgcgaAGATCGAGACCCGACGC chr6:57121695-Alternative-T;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Variant G tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagt ACCGGTTGGAAC CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAaccggttggaacAGATCGAGACCCGACGC chr6:57121695-Variant-G;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Reference A tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagt CAGGCTTCGAGT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAcaggcttcgagtAGATCGAGACCCGACGC chr6:57121695-Reference-A;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative C tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagt AACAGCGTCGAG CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAaacagcgtcgagAGATCGAGACCCGACGC chr6:57121695-Alternative-C;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Variant G tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagt AGTAGTAGCGTT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAagtagtagcgttAGATCGAGACCCGACGC chr6:57121695-Variant-G;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative C tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagt CTCAATCACGCT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAActcaatcacgctAGATCGAGACCCGACGC chr6:57121695-Alternative-C;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative T tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagt GTATCGTGACCG CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAgtatcgtgaccgAGATCGAGACCCGACGC chr6:57121695-Alternative-T;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative C tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagt CGTGCTTGCAAG CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAcgtgcttgcaagAGATCGAGACCCGACGC chr6:57121695-Alternative-C;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative C tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagt GCGTGCACAAGT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAgcgtgcacaagtAGATCGAGACCCGACGC chr6:57121695-Alternative-C;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Variant G tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagt GGTCATCACGGT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattGctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAggtcatcacggtAGATCGAGACCCGACGC chr6:57121695-Variant-G;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative T tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagt AACCGTCTAGCG CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAaaccgtctagcgAGATCGAGACCCGACGC chr6:57121695-Alternative-T;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Reference A tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagt CTTGCTCAGGCA CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAActtgctcaggcaAGATCGAGACCCGACGC chr6:57121695-Reference-A;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative T tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagt GAGATGGAGTAC CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattTctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAgagatggagtacAGATCGAGACCCGACGC chr6:57121695-Alternative-T;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Alternative C tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagt GCGATACTAGCT CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattCctcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAgcgatactagctAGATCGAGACCCGACGC chr6:57121695-Alternative-C;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Reference A tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagt CGAGCGACAACA CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAcgagcgacaacaAGATCGAGACCCGACGC chr6:57121695-Reference-A;Patient-1 chr6:57121695-AG DeNovo Patient-1 intergenic NA 0.000513 0.33 7.61 0.67 RAB23 34582 Reference A tcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagt ACAGGCTATTGA CGACGCGGTCTCTCTCTtcatctatctaactgatgtgctagtctagtctcctacctactgctaaattActcaattaacctattttgttcaattccattttagccacaaccctttagtAGAGGGAGACGGACGTCTCAATAAacaggctattgaAGATCGAGACCCGACGC chr6:57121695-Reference-A;Patient-1 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative G ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtatttt AGACCTGCGCTT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAagacctgcgcttAGATCGAGACCCGACGC chr6:6107775-Alternative-G;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative G ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CGTAATCGGCCA CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAcgtaatcggccaAGATCGAGACCCGACGC chr6:6107775-Alternative-G;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative T ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CGAACTGTCGAC CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAcgaactgtcgacAGATCGAGACCCGACGC chr6:6107775-Alternative-T;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative G ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CTAGTCGTGCTA CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAActagtcgtgctaAGATCGAGACCCGACGC chr6:6107775-Alternative-G;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative G ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GGTGAATCGACG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAggtgaatcgacgAGATCGAGACCCGACGC chr6:6107775-Alternative-G;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative G ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GTTGACGCGCTT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttGtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAgttgacgcgcttAGATCGAGACCCGACGC chr6:6107775-Alternative-G;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative T ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GTAATACGTCCA CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAgtaatacgtccaAGATCGAGACCCGACGC chr6:6107775-Alternative-T;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative T ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtatttt AATCGACGATCA CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAaatcgacgatcaAGATCGAGACCCGACGC chr6:6107775-Alternative-T;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative T ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CAGCTGATGATT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAcagctgatgattAGATCGAGACCCGACGC chr6:6107775-Alternative-T;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Variant A ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CTTGTAGTACAG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAActtgtagtacagAGATCGAGACCCGACGC chr6:6107775-Variant-A;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Reference C ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GTCAGTATGCCG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAgtcagtatgccgAGATCGAGACCCGACGC chr6:6107775-Reference-C;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Variant A ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtatttt ACTTATTGGTGG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAacttattggtggAGATCGAGACCCGACGC chr6:6107775-Variant-A;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Reference C ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CTCGCTGCATGT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAActcgctgcatgtAGATCGAGACCCGACGC chr6:6107775-Reference-C;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Reference C ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtatttt ATAGTAGGTTCG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAatagtaggttcgAGATCGAGACCCGACGC chr6:6107775-Reference-C;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Reference C ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtatttt CGACCAGGATCA CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAcgaccaggatcaAGATCGAGACCCGACGC chr6:6107775-Reference-C;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Alternative T ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtatttt ACACGGTACAGT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttTtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAacacggtacagtAGATCGAGACCCGACGC chr6:6107775-Alternative-T;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Variant A ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtatttt AACGTCAAGAGT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAaacgtcaagagtAGATCGAGACCCGACGC chr6:6107775-Variant-A;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Variant A ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GTGACATACCAC CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAgtgacataccacAGATCGAGACCCGACGC chr6:6107775-Variant-A;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Variant A ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtatttt ATCGTGAGGTGG CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttAtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAatcgtgaggtggAGATCGAGACCCGACGC chr6:6107775-Variant-A;Patient-25 chr6:6107775-CA DeNovo Patient-25 intergenic NA 0.000513 0.92 12.72 0 NRN1 99936 Reference C ttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtatttt GTTCGATTCCAT CGACGCGGTCTCTCTCTttgatttgatttttgtatatggcaagatataggggtctagtttcattcttCtgcatatggatattcagttttcccagcatcacttattgaagagtattttAGAGGGAGACGGACGTCTCAATAAgttcgattccatAGATCGAGACCCGACGC chr6:6107775-Reference-C;Patient-25 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Reference T atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg ACGTACTAATCG CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAacgtactaatcgAGATCGAGACCCGACGC chr6:64227742-Reference-T;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Reference T atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GGTAGACCATAA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAggtagaccataaAGATCGAGACCCGACGC chr6:64227742-Reference-T;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative G atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GATGGTAAGAAG CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgatggtaagaagAGATCGAGACCCGACGC chr6:64227742-Alternative-G;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative A atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GACATCGGCTGT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgacatcggctgtAGATCGAGACCCGACGC chr6:64227742-Alternative-A;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative A atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg CTTGACACCGTC CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAActtgacaccgtcAGATCGAGACCCGACGC chr6:64227742-Alternative-A;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Reference T atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GTTGTTCGCTAT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgttgttcgctatAGATCGAGACCCGACGC chr6:64227742-Reference-T;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative G atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg ACCGTAATTCCA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAaccgtaattccaAGATCGAGACCCGACGC chr6:64227742-Alternative-G;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative A atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg ACAGCAGTGATA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAacagcagtgataAGATCGAGACCCGACGC chr6:64227742-Alternative-A;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Reference T atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GAATCGATTCCA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgaatcgattccaAGATCGAGACCCGACGC chr6:64227742-Reference-T;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Reference T atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg AGCAGTACGCAG CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttTtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAagcagtacgcagAGATCGAGACCCGACGC chr6:64227742-Reference-T;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative A atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GTGCGAATGCGA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgtgcgaatgcgaAGATCGAGACCCGACGC chr6:64227742-Alternative-A;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative G atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg CGGAGATGATGG CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAcggagatgatggAGATCGAGACCCGACGC chr6:64227742-Alternative-G;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative A atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GTAAGTCAGACT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttAtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgtaagtcagactAGATCGAGACCCGACGC chr6:64227742-Alternative-A;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Variant C atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg AGTGCTAGTCAT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAagtgctagtcatAGATCGAGACCCGACGC chr6:64227742-Variant-C;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Variant C atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg ATCACGCTGGAC CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAatcacgctggacAGATCGAGACCCGACGC chr6:64227742-Variant-C;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Variant C atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg CATCTATCCGAT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAcatctatccgatAGATCGAGACCCGACGC chr6:64227742-Variant-C;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Variant C atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg CATCTTCGCGCT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAcatcttcgcgctAGATCGAGACCCGACGC chr6:64227742-Variant-C;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Variant C atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GTCTAGGCGTGA CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttCtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgtctaggcgtgaAGATCGAGACCCGACGC chr6:64227742-Variant-C;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative G atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg GATAAGCAAGTC CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAgataagcaagtcAGATCGAGACCCGACGC chr6:64227742-Alternative-G;Patient-77 chr6:64227742-TC DeNovo Patient-77 intergenic NA 0.000512821 NA NA NA PTP4A1 54174 Alternative G atgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtgg CGTCCAACTGCT CGACGCGGTCTCTCTCTatgtccaaaatcatgtcaaaaatgtctctactagcgcaacccaatagtttGtaaaagaatccattgacacataaaatctcagtagggccaagcttggtggAGAGGGAGACGGACGTCTCAATAAcgtccaactgctAGATCGAGACCCGACGC chr6:64227742-Alternative-G;Patient-77 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative C ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctc AAGGCGTCGGTT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAaaggcgtcggttAGATCGAGACCCGACGC chr6:677162-Alternative-C;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative C ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctc AATACATGGACG CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAaatacatggacgAGATCGAGACCCGACGC chr6:677162-Alternative-C;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Reference A ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctc ACACCACGCTGT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAacaccacgctgtAGATCGAGACCCGACGC chr6:677162-Reference-A;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Reference A ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctc GTCGTTGGCGTT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAgtcgttggcgttAGATCGAGACCCGACGC chr6:677162-Reference-A;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative G ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CAGATGGCTACG CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcagatggctacgAGATCGAGACCCGACGC chr6:677162-Alternative-G;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Reference A ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctc ATCAACGGTAGT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAatcaacggtagtAGATCGAGACCCGACGC chr6:677162-Reference-A;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative G ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctc AGGTTGACTCTA CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAaggttgactctaAGATCGAGACCCGACGC chr6:677162-Alternative-G;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Variant T ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctc GGCTTCGATTAT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAggcttcgattatAGATCGAGACCCGACGC chr6:677162-Variant-T;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative C ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CAGGCGATTGGT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcaggcgattggtAGATCGAGACCCGACGC chr6:677162-Alternative-C;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative G ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CGTATGCAACCG CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcgtatgcaaccgAGATCGAGACCCGACGC chr6:677162-Alternative-G;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Variant T ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CTCAAGTCCGTC CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAActcaagtccgtcAGATCGAGACCCGACGC chr6:677162-Variant-T;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative G ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CAAGCAGAAGCG CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcaagcagaagcgAGATCGAGACCCGACGC chr6:677162-Alternative-G;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative G ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctc ACGCGGAACATC CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggGgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAacgcggaacatcAGATCGAGACCCGACGC chr6:677162-Alternative-G;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Variant T ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctc ACGTAGGTGGAC CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAacgtaggtggacAGATCGAGACCCGACGC chr6:677162-Variant-T;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Reference A ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CTAGATCAACAC CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAActagatcaacacAGATCGAGACCCGACGC chr6:677162-Reference-A;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative C ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctc GGTGTAGCGGAA CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAggtgtagcggaaAGATCGAGACCCGACGC chr6:677162-Alternative-C;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Variant T ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctc GGAACATCGTGG CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAggaacatcgtggAGATCGAGACCCGACGC chr6:677162-Variant-T;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Alternative C ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CGTTCGTTAGAT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggCgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcgttcgttagatAGATCGAGACCCGACGC chr6:677162-Alternative-C;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Reference A ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctc CATTCGCGTGCT CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggAgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAcattcgcgtgctAGATCGAGACCCGACGC chr6:677162-Reference-A;Patient-22 chr6:677162-AT Inherited Patient-22 intronic EXOC2 0.000371 0.0137 -0.03 2.25 0.05 EXOC2 15978 Variant T ctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctc AGCTTGCCTATA CGACGCGGTCTCTCTCTctgcggtttcccatactcttcaacattacggaaaggacagctttctctggTgactgcggttccccatactcttcagcattacggaaaggacaggttcctcAGAGGGAGACGGACGTCTCAATAAagcttgcctataAGATCGAGACCCGACGC chr6:677162-Variant-T;Patient-22 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative A gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctca ATCCGCTTGGAT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAatccgcttggatAGATCGAGACCCGACGC chr6:702871-Alternative-A;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative A gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctca ACGAGGTACAAT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacgaggtacaatAGATCGAGACCCGACGC chr6:702871-Alternative-A;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Reference C gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GATACGCGCCTA CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgatacgcgcctaAGATCGAGACCCGACGC chr6:702871-Reference-C;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Reference C gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GACTACCATACT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgactaccatactAGATCGAGACCCGACGC chr6:702871-Reference-C;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative A gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CAACTCGGAATT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcaactcggaattAGATCGAGACCCGACGC chr6:702871-Alternative-A;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Reference C gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CTTAGGTCTTGT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActtaggtcttgtAGATCGAGACCCGACGC chr6:702871-Reference-C;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Reference C gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GTCGCCGGTATT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgtcgccggtattAGATCGAGACCCGACGC chr6:702871-Reference-C;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative A gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctca ACGTTCACGACG CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacgttcacgacgAGATCGAGACCCGACGC chr6:702871-Alternative-A;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative A gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CGGCCATAATCG CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctAggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcggccataatcgAGATCGAGACCCGACGC chr6:702871-Alternative-A;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Variant T gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CAACCTGTACTT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcaacctgtacttAGATCGAGACCCGACGC chr6:702871-Variant-T;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Reference C gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctca AGGTTGTCTTGA CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctCggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaggttgtcttgaAGATCGAGACCCGACGC chr6:702871-Reference-C;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative G gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctca AACACACGTACC CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaacacacgtaccAGATCGAGACCCGACGC chr6:702871-Alternative-G;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative G gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CGCGTTGAGCTT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgcgttgagcttAGATCGAGACCCGACGC chr6:702871-Alternative-G;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative G gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GGACTCAGACGA CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggactcagacgaAGATCGAGACCCGACGC chr6:702871-Alternative-G;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Variant T gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GGCTCTCTGAGA CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggctctctgagaAGATCGAGACCCGACGC chr6:702871-Variant-T;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative G gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CAACAACACGTC CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcaacaacacgtcAGATCGAGACCCGACGC chr6:702871-Alternative-G;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Variant T gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctca CATAATAGCGAG CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcataatagcgagAGATCGAGACCCGACGC chr6:702871-Variant-T;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Variant T gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctca GTTAGCGGATTA CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgttagcggattaAGATCGAGACCCGACGC chr6:702871-Variant-T;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Variant T gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctca AACACGTTCAGG CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctTggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaacacgttcaggAGATCGAGACCCGACGC chr6:702871-Variant-T;Patient-105 chr6:702871-CT DeNovo Patient-105 intergenic NA 3.85e-05 -0.1 1.41 0.24 EXOC2 9729 Alternative G gtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctca AATACGGTTGCT CGACGCGGTCTCTCTCTgtgggagagtctggctctgtcgcccaggccagagtgcagtggtgcaatctGggctcactgcaacctctgcctcccggattcaagctattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaatacggttgctAGATCGAGACCCGACGC chr6:702871-Alternative-G;Patient-105 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Variant A gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CGCGAATACTTC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcgcgaatacttcAGATCGAGACCCGACGC chr6:7050254-Variant-A;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Variant A gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccag GGAGTCTGAACC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAggagtctgaaccAGATCGAGACCCGACGC chr6:7050254-Variant-A;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative T gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CGTCTAATGACA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcgtctaatgacaAGATCGAGACCCGACGC chr6:7050254-Alternative-T;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Variant A gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CAGGTACGCATA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcaggtacgcataAGATCGAGACCCGACGC chr6:7050254-Variant-A;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Variant A gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CAACTAGCGTCG CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcaactagcgtcgAGATCGAGACCCGACGC chr6:7050254-Variant-A;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Reference C gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag GTTCAAGCAATC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAgttcaagcaatcAGATCGAGACCCGACGC chr6:7050254-Reference-C;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative T gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag GGTACGAACTTA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAggtacgaacttaAGATCGAGACCCGACGC chr6:7050254-Alternative-T;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Variant A gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccag AGCAATGTTGCA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacActgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAagcaatgttgcaAGATCGAGACCCGACGC chr6:7050254-Variant-A;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative T gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CGGAACGGTCAA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcggaacggtcaaAGATCGAGACCCGACGC chr6:7050254-Alternative-T;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative T gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag ACCGGATGCGAA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAaccggatgcgaaAGATCGAGACCCGACGC chr6:7050254-Alternative-T;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative T gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag GCCGTACCTTCT CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacTctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAgccgtaccttctAGATCGAGACCCGACGC chr6:7050254-Alternative-T;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Reference C gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag AAGGTGTAAGTC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAaaggtgtaagtcAGATCGAGACCCGACGC chr6:7050254-Reference-C;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative G gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag ATTCGCGACGAC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAattcgcgacgacAGATCGAGACCCGACGC chr6:7050254-Alternative-G;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Reference C gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CAGCTTGCACCT CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcagcttgcacctAGATCGAGACCCGACGC chr6:7050254-Reference-C;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative G gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag ACAAGATAGCGG CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAacaagatagcggAGATCGAGACCCGACGC chr6:7050254-Alternative-G;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Reference C gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag AGCGTTGAGAAG CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAagcgttgagaagAGATCGAGACCCGACGC chr6:7050254-Reference-C;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative G gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CTACGACATAAG CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAActacgacataagAGATCGAGACCCGACGC chr6:7050254-Alternative-G;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative G gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CTAGATTCAACC CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAActagattcaaccAGATCGAGACCCGACGC chr6:7050254-Alternative-G;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Alternative G gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag GTCGAGCCTTCT CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacGctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAgtcgagccttctAGATCGAGACCCGACGC chr6:7050254-Alternative-G;Patient-44 chr6:7050254-CA DeNovo Patient-44 intergenic NA 0.000513 -0.21 0.67 -0.92 RREB1 57575 Reference C gttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccag CGTACGTCCACA CGACGCGGTCTCTCTCTgttgatgattcctaatgacaccattttgaaacgtgaacacttctctcaacCctgttcaaatctggcacaattcctagagcagcagagcagcagtacccagAGAGGGAGACGGACGTCTCAATAAcgtacgtccacaAGATCGAGACCCGACGC chr6:7050254-Reference-C;Patient-44 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative C caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GTTCCATCTCTT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgttccatctcttAGATCGAGACCCGACGC chr6:7061497-Alternative-C;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative C caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CGACAGCCTTGA CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcgacagccttgaAGATCGAGACCCGACGC chr6:7061497-Alternative-C;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative C caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CGACTGCGCATT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcgactgcgcattAGATCGAGACCCGACGC chr6:7061497-Alternative-C;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative C caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CGTGACGCATGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcgtgacgcatgtAGATCGAGACCCGACGC chr6:7061497-Alternative-C;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Variant A caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CGGTGTTCATGC CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcggtgttcatgcAGATCGAGACCCGACGC chr6:7061497-Variant-A;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative C caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GGATACTAGCTA CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaCcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAggatactagctaAGATCGAGACCCGACGC chr6:7061497-Alternative-C;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Reference G caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GTTCGCGCAAGA CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgttcgcgcaagaAGATCGAGACCCGACGC chr6:7061497-Reference-G;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Variant A caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GGTAAGGTGTCG CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAggtaaggtgtcgAGATCGAGACCCGACGC chr6:7061497-Variant-A;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Variant A caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GACGAGAGCTGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgacgagagctgtAGATCGAGACCCGACGC chr6:7061497-Variant-A;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Reference G caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GACGAATTCCTA CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgacgaattcctaAGATCGAGACCCGACGC chr6:7061497-Reference-G;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Reference G caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttat AATCATGCGGAA CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAaatcatgcggaaAGATCGAGACCCGACGC chr6:7061497-Reference-G;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Reference G caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CTCTAGGCGTAC CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAActctaggcgtacAGATCGAGACCCGACGC chr6:7061497-Reference-G;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative T caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CTACGCTCGGTT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAActacgctcggttAGATCGAGACCCGACGC chr6:7061497-Alternative-T;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Variant A caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttat ACGGCGCTTAGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAacggcgcttagtAGATCGAGACCCGACGC chr6:7061497-Variant-A;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative T caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GTTCACTCACGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgttcactcacgtAGATCGAGACCCGACGC chr6:7061497-Alternative-T;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative T caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GGTCATGGTATT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAggtcatggtattAGATCGAGACCCGACGC chr6:7061497-Alternative-T;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Variant A caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttat GTAGATAGTGGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaAcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAgtagatagtggtAGATCGAGACCCGACGC chr6:7061497-Variant-A;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Reference G caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CAGGTGGACTTC CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaGcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcaggtggacttcAGATCGAGACCCGACGC chr6:7061497-Reference-G;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative T caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttat ATATAACGGTCG CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAatataacggtcgAGATCGAGACCCGACGC chr6:7061497-Alternative-T;Patient-21 chr6:7061497-GA Inherited Patient-21 intergenic 9.6e-05 0.000513 0.26 6.71 -3.11 RREB1 46332 Alternative T caactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttat CAATGCTTCTGT CGACGCGGTCTCTCTCTcaactttttaaatatagcatgctggaaggccttgagagaagagttttgaaTcaatatcagtgttggaactaaaagggaacacttttatttatttatttatAGAGGGAGACGGACGTCTCAATAAcaatgcttctgtAGATCGAGACCCGACGC chr6:7061497-Alternative-T;Patient-21 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative A tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CTAGTTGCTATC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActagttgctatcAGATCGAGACCCGACGC chr6:7074738-Alternative-A;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Reference C tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg GATGACATGACA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgatgacatgacaAGATCGAGACCCGACGC chr6:7074738-Reference-C;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative A tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg ATTACTGCGTGA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAattactgcgtgaAGATCGAGACCCGACGC chr6:7074738-Alternative-A;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Variant T tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg ACCTTCGTACTA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaccttcgtactaAGATCGAGACCCGACGC chr6:7074738-Variant-T;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Reference C tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg ATCCTACCAGAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAatcctaccagaaAGATCGAGACCCGACGC chr6:7074738-Reference-C;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative A tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg AGACGAATCGAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAagacgaatcgaaAGATCGAGACCCGACGC chr6:7074738-Alternative-A;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative G tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CGAACCAGACCT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcgaaccagacctAGATCGAGACCCGACGC chr6:7074738-Alternative-G;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Variant T tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg ATTGACGCAACC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAattgacgcaaccAGATCGAGACCCGACGC chr6:7074738-Variant-T;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Reference C tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg GACGGTCGTTGT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgacggtcgttgtAGATCGAGACCCGACGC chr6:7074738-Reference-C;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative A tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CGGTCTAGCGAT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcggtctagcgatAGATCGAGACCCGACGC chr6:7074738-Alternative-A;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative G tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg GTTGAGCATCAA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgttgagcatcaaAGATCGAGACCCGACGC chr6:7074738-Alternative-G;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Reference C tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CTGAGACTGATT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActgagactgattAGATCGAGACCCGACGC chr6:7074738-Reference-C;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Reference C tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg AACTCGGTGTCG CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcCgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaactcggtgtcgAGATCGAGACCCGACGC chr6:7074738-Reference-C;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative G tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CTCTTGTAGTGT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAActcttgtagtgtAGATCGAGACCCGACGC chr6:7074738-Alternative-G;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Variant T tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg GTTCCAGGAACT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgttccaggaactAGATCGAGACCCGACGC chr6:7074738-Variant-T;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Variant T tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CACGAGCAAGTC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcacgagcaagtcAGATCGAGACCCGACGC chr6:7074738-Variant-T;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative G tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg AGTTCGTCTAGA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAagttcgtctagaAGATCGAGACCCGACGC chr6:7074738-Alternative-G;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Variant T tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg GCAACGAGATGC CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcTgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAgcaacgagatgcAGATCGAGACCCGACGC chr6:7074738-Variant-T;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative A tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg AATCGGCGAATA CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcAgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAaatcggcgaataAGATCGAGACCCGACGC chr6:7074738-Alternative-A;Patient-17 chr6:7074738-CT Inherited Patient-17 intergenic 0.000192 0.00103 0.04 3.24 -0.62 RREB1 33091 Alternative G tgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctgg CGGATCGCAACT CGACGCGGTCTCTCTCTtgttgcccaggctggagtgcagtggtgtgatcttggctcactgcaacatcGgcctcctgggctcaagcgattctcctgcttcagcctcccgagtagctggAGAGGGAGACGGACGTCTCAATAAcggatcgcaactAGATCGAGACCCGACGC chr6:7074738-Alternative-G;Patient-17 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Reference C tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CTTACCTGTAAC CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAActtacctgtaacAGATCGAGACCCGACGC chr6:70954699-Reference-C;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Reference C tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GAAGTGTAGCAT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgaagtgtagcatAGATCGAGACCCGACGC chr6:70954699-Reference-C;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Reference C tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GTACAGACGAAG CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgtacagacgaagAGATCGAGACCCGACGC chr6:70954699-Reference-C;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative G tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt ATCAAGTACCGC CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAatcaagtaccgcAGATCGAGACCCGACGC chr6:70954699-Alternative-G;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Variant T tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt AGGACGGTAACA CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAaggacggtaacaAGATCGAGACCCGACGC chr6:70954699-Variant-T;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative A tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt AACGTAATCGCT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAaacgtaatcgctAGATCGAGACCCGACGC chr6:70954699-Alternative-A;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative A tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt ACACAGAGAATC CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAacacagagaatcAGATCGAGACCCGACGC chr6:70954699-Alternative-A;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative A tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CTACAAGAGTCT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAActacaagagtctAGATCGAGACCCGACGC chr6:70954699-Alternative-A;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative G tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GCAGCTACTCCT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgcagctactcctAGATCGAGACCCGACGC chr6:70954699-Alternative-G;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative G tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CTCAAGTACGGC CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAActcaagtacggcAGATCGAGACCCGACGC chr6:70954699-Alternative-G;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Variant T tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GTCGGCACAACT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgtcggcacaactAGATCGAGACCCGACGC chr6:70954699-Variant-T;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative A tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GTGCGCGAATGT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgtgcgcgaatgtAGATCGAGACCCGACGC chr6:70954699-Alternative-A;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Reference C tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt AAGCGCAAGTTA CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAaagcgcaagttaAGATCGAGACCCGACGC chr6:70954699-Reference-C;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative G tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CGCGGTTACTGA CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAcgcggttactgaAGATCGAGACCCGACGC chr6:70954699-Alternative-G;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Reference C tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CATCTATGGTGT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaCtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAcatctatggtgtAGATCGAGACCCGACGC chr6:70954699-Reference-C;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative A tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GGCGCTAGCTTA CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaAtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAggcgctagcttaAGATCGAGACCCGACGC chr6:70954699-Alternative-A;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Variant T tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GCGCGTAACCTT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgcgcgtaaccttAGATCGAGACCCGACGC chr6:70954699-Variant-T;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Alternative G tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt GCATTGGCGTAC CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaGtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAgcattggcgtacAGATCGAGACCCGACGC chr6:70954699-Alternative-G;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Variant T tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CGGTACTACGGT CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAcggtactacggtAGATCGAGACCCGACGC chr6:70954699-Variant-T;Patient-76 chr6:70954699-CT Inherited Patient-76 intronic COL9A1 NA 4.95e-05 0.3 7.18 1.93 COL9A1 58086 Variant T tccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttattt CGAGTACGTAGG CGACGCGGTCTCTCTCTtccaccatatgtagcacggagagaaggatcagtaaaattgtgagcatttaTtcccctgttactgcacaaatggacagcatgtggttcctcatttttatttAGAGGGAGACGGACGTCTCAATAAcgagtacgtaggAGATCGAGACCCGACGC chr6:70954699-Variant-T;Patient-76 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Reference T agtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GTAGATGGACGA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgtagatggacgaAGATCGAGACCCGACGC chr6:73398116-Reference-T;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative G agtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag CATCGTTGTATC CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAcatcgttgtatcAGATCGAGACCCGACGC chr6:73398116-Alternative-G;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative G agtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag CGGAGGTACGTT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAcggaggtacgttAGATCGAGACCCGACGC chr6:73398116-Alternative-G;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative G agtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag CGCGCTATGAGA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAcgcgctatgagaAGATCGAGACCCGACGC chr6:73398116-Alternative-G;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative G agtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GTCGTAGGATAA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgtcgtaggataaAGATCGAGACCCGACGC chr6:73398116-Alternative-G;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Reference T agtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag AGTATACGGCGG CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAagtatacggcggAGATCGAGACCCGACGC chr6:73398116-Reference-T;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Reference T agtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GATACGGAGCGT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgatacggagcgtAGATCGAGACCCGACGC chr6:73398116-Reference-T;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Reference T agtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag AGATTAGTAGCG CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAagattagtagcgAGATCGAGACCCGACGC chr6:73398116-Reference-T;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Reference T agtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GTGAACAATGGT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccTtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgtgaacaatggtAGATCGAGACCCGACGC chr6:73398116-Reference-T;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative G agtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GCAAGGCTACCT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccGtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgcaaggctacctAGATCGAGACCCGACGC chr6:73398116-Alternative-G;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative A agtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GGTGTTGCATAT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAggtgttgcatatAGATCGAGACCCGACGC chr6:73398116-Alternative-A;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative A agtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag ACGCAGCACCAT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAacgcagcaccatAGATCGAGACCCGACGC chr6:73398116-Alternative-A;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Variant C agtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag CGATGTGCGGAT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAcgatgtgcggatAGATCGAGACCCGACGC chr6:73398116-Variant-C;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative A agtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GCGATAACAAGG CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgcgataacaaggAGATCGAGACCCGACGC chr6:73398116-Alternative-A;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative A agtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag CAAGTTCTGCAA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAcaagttctgcaaAGATCGAGACCCGACGC chr6:73398116-Alternative-A;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Alternative A agtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag ACATGTGACGAA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccAtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAacatgtgacgaaAGATCGAGACCCGACGC chr6:73398116-Alternative-A;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Variant C agtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GAGATGGCGATA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgagatggcgataAGATCGAGACCCGACGC chr6:73398116-Variant-C;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Variant C agtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag AGTGGCCGAGAA CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAagtggccgagaaAGATCGAGACCCGACGC chr6:73398116-Variant-C;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Variant C agtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag AACGCGACCAAG CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAaacgcgaccaagAGATCGAGACCCGACGC chr6:73398116-Variant-C;Patient-35 chr6:73398116-TC DeNovo Patient-35 intronic KCNQ5 3.2e-05 4.95e-05 0.05 3.43 -2.45 KCNQ5 66544 Variant C agtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaag GACCTATGTAGT CGACGCGGTCTCTCTCTagtctagactaagatccaagtttacttccagcatttctttatctttatccCtcttcatttgcagcttcttcttgtttatgctttgggaaaccagatgaagAGAGGGAGACGGACGTCTCAATAAgacctatgtagtAGATCGAGACCCGACGC chr6:73398116-Variant-C;Patient-35 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Reference T ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaatacca GGTTCGCAATTA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAggttcgcaattaAGATCGAGACCCGACGC chr6:73407695-Reference-T;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Variant A ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CGAATTCTGAAC CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcgaattctgaacAGATCGAGACCCGACGC chr6:73407695-Variant-A;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative G ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaatacca GTAGATCGCCGA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAgtagatcgccgaAGATCGAGACCCGACGC chr6:73407695-Alternative-G;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative G ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaatacca AGCGCTAGATAA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAagcgctagataaAGATCGAGACCCGACGC chr6:73407695-Alternative-G;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Variant A ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaatacca ACGTAGCCAACC CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAacgtagccaaccAGATCGAGACCCGACGC chr6:73407695-Variant-A;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative G ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CAACTGAAGGCA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcaactgaaggcaAGATCGAGACCCGACGC chr6:73407695-Alternative-G;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Variant A ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaatacca ACTACGGTGCGT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAactacggtgcgtAGATCGAGACCCGACGC chr6:73407695-Variant-A;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Reference T ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaatacca ACGGCAATTATC CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAacggcaattatcAGATCGAGACCCGACGC chr6:73407695-Reference-T;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Reference T ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CGATACAACCGT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcgatacaaccgtAGATCGAGACCCGACGC chr6:73407695-Reference-T;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Variant A ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CAGATTAGCGTT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcagattagcgttAGATCGAGACCCGACGC chr6:73407695-Variant-A;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Reference T ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaatacca AATAGCGGCTAA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAaatagcggctaaAGATCGAGACCCGACGC chr6:73407695-Reference-T;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Variant A ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CATCTGCTAGAA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacAttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcatctgctagaaAGATCGAGACCCGACGC chr6:73407695-Variant-A;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Reference T ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaatacca AGGAAGACCTTA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacTttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAaggaagaccttaAGATCGAGACCCGACGC chr6:73407695-Reference-T;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative C ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaatacca GTTGATAACAGG CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAgttgataacaggAGATCGAGACCCGACGC chr6:73407695-Alternative-C;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative C ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaatacca GGTTCCGTGCTT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAggttccgtgcttAGATCGAGACCCGACGC chr6:73407695-Alternative-C;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative C ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaatacca CGGAGATAGTAA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAcggagatagtaaAGATCGAGACCCGACGC chr6:73407695-Alternative-C;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative C ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaatacca AGACCGAAGTTA CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAagaccgaagttaAGATCGAGACCCGACGC chr6:73407695-Alternative-C;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative C ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaatacca ACCATGAGTACT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacCttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAaccatgagtactAGATCGAGACCCGACGC chr6:73407695-Alternative-C;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative G ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaatacca AGACGGCTTAGG CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAagacggcttaggAGATCGAGACCCGACGC chr6:73407695-Alternative-G;Patient-54 chr6:73407695-TA Inherited Patient-54 intronic KCNQ5 3.2e-05 4.95e-05 -0.14 1.1 -0.78 KCNQ5 76123 Alternative G ttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaatacca ATCGCGCAACCT CGACGCGGTCTCTCTCTttcaaagtgtatcaactggggacggtggctcatgcctgtaatcccagtacGttgggaggctgaggtgggaggattacttgagtccactagttcaataccaAGAGGGAGACGGACGTCTCAATAAatcgcgcaacctAGATCGAGACCCGACGC chr6:73407695-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative G gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttata CTGTCAACACAC CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAActgtcaacacacAGATCGAGACCCGACGC chr6:76119029-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative A gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttata CGTTGGTAGTCG CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAcgttggtagtcgAGATCGAGACCCGACGC chr6:76119029-Alternative-A;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative G gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttata AGATTCGGTGAA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAagattcggtgaaAGATCGAGACCCGACGC chr6:76119029-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Reference T gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttata CTTGCGTGGAGT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAActtgcgtggagtAGATCGAGACCCGACGC chr6:76119029-Reference-T;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Reference T gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttata AGCAGTGCTAGT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAagcagtgctagtAGATCGAGACCCGACGC chr6:76119029-Reference-T;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Reference T gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttata GTCGATTAGGTT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgtcgattaggttAGATCGAGACCCGACGC chr6:76119029-Reference-T;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Variant C gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttata ACCGTGCGTATA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAaccgtgcgtataAGATCGAGACCCGACGC chr6:76119029-Variant-C;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Reference T gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttata GAAGAGTTGTGC CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgaagagttgtgcAGATCGAGACCCGACGC chr6:76119029-Reference-T;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative A gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttata ACTTCGATGTTC CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAacttcgatgttcAGATCGAGACCCGACGC chr6:76119029-Alternative-A;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Variant C gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttata ATCATCGGAACA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAatcatcggaacaAGATCGAGACCCGACGC chr6:76119029-Variant-C;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative G gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttata GACGGCTCTCTT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgacggctctcttAGATCGAGACCCGACGC chr6:76119029-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative G gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttata GCGCGGTTCTAT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgcgcggttctatAGATCGAGACCCGACGC chr6:76119029-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative A gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttata CAGTAAGTACGA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAcagtaagtacgaAGATCGAGACCCGACGC chr6:76119029-Alternative-A;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Reference T gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttata CAGCTAACGTTA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggTgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAcagctaacgttaAGATCGAGACCCGACGC chr6:76119029-Reference-T;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative A gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttata GATGAACAACGT CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgatgaacaacgtAGATCGAGACCCGACGC chr6:76119029-Alternative-A;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative A gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttata ATAGATCGCGCG CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggAgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAatagatcgcgcgAGATCGAGACCCGACGC chr6:76119029-Alternative-A;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Alternative G gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttata GTAACGGAGTAA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggGgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAgtaacggagtaaAGATCGAGACCCGACGC chr6:76119029-Alternative-G;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Variant C gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttata GGCTATCGGAGA CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAggctatcggagaAGATCGAGACCCGACGC chr6:76119029-Variant-C;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Variant C gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttata CAGGAGTTGACG CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAcaggagttgacgAGATCGAGACCCGACGC chr6:76119029-Variant-C;Patient-54 chr6:76119029-TC Inherited Patient-54 intronic FILIP1 6.4e-05 4.95e-05 0.5 9.42 1.45 FILIP1 84466 Variant C gcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttata GGATCGACATGG CGACGCGGTCTCTCTCTgcaagtcacaaaactcatatgtgagtttcacatttgtaatataaaggaggCgaggtagataagacacttcaaaggcgccttagagttctaatattttataAGAGGGAGACGGACGTCTCAATAAggatcgacatggAGATCGAGACCCGACGC chr6:76119029-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative A catttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CTTACGTAACAG CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAActtacgtaacagAGATCGAGACCCGACGC chr6:76306379-Alternative-A;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative A catttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CTCTCTCTTACG CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAActctctcttacgAGATCGAGACCCGACGC chr6:76306379-Alternative-A;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative A catttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg ATCGATCTGCAA CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAatcgatctgcaaAGATCGAGACCCGACGC chr6:76306379-Alternative-A;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative A catttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg GATACGTCGTTA CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAgatacgtcgttaAGATCGAGACCCGACGC chr6:76306379-Alternative-A;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Reference T catttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CGATAGGATCTT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAcgataggatcttAGATCGAGACCCGACGC chr6:76306379-Reference-T;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Reference T catttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg ACTGAACGTGCG CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAactgaacgtgcgAGATCGAGACCCGACGC chr6:76306379-Reference-T;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative A catttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg AGTGTCTTCTAC CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgAggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAagtgtcttctacAGATCGAGACCCGACGC chr6:76306379-Alternative-A;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Reference T catttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CTGTGCTGACAG CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAActgtgctgacagAGATCGAGACCCGACGC chr6:76306379-Reference-T;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Variant C catttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CTGTGTCGGTTC CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAActgtgtcggttcAGATCGAGACCCGACGC chr6:76306379-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Variant C catttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg ATTGCGATAACG CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAattgcgataacgAGATCGAGACCCGACGC chr6:76306379-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Variant C catttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg GTCGTTATGACA CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAgtcgttatgacaAGATCGAGACCCGACGC chr6:76306379-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Reference T catttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CAACGACATTCT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAcaacgacattctAGATCGAGACCCGACGC chr6:76306379-Reference-T;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Variant C catttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg AGAGTACCGCTT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAagagtaccgcttAGATCGAGACCCGACGC chr6:76306379-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative G catttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg ATATGACCAGTC CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAatatgaccagtcAGATCGAGACCCGACGC chr6:76306379-Alternative-G;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Reference T catttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CGCACCTATCGT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgTggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAcgcacctatcgtAGATCGAGACCCGACGC chr6:76306379-Reference-T;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Variant C catttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg CAGTACCTATGT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgCggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAcagtacctatgtAGATCGAGACCCGACGC chr6:76306379-Variant-C;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative G catttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg AGCACGATTGGT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAagcacgattggtAGATCGAGACCCGACGC chr6:76306379-Alternative-G;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative G catttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg GGTCGGACCATA CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAggtcggaccataAGATCGAGACCCGACGC chr6:76306379-Alternative-G;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative G catttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg ACGTATGCTCTA CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAacgtatgctctaAGATCGAGACCCGACGC chr6:76306379-Alternative-G;Patient-54 chr6:76306379-TC DeNovo Patient-54 intergenic 0.000765 0.00154 -0.22 0.63 -0.72 SENP6 5242 Alternative G catttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcgg GTACTCCGTGCT CGACGCGGTCTCTCTCTcatttaacctttgagtctatgttcacttataaaataagaatggccaggtgGggtggctcatgcctgtaattccagcactttgggaggccaaggcgggcggAGAGGGAGACGGACGTCTCAATAAgtactccgtgctAGATCGAGACCCGACGC chr6:76306379-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Variant C ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt GACTGACCGTGA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAgactgaccgtgaAGATCGAGACCCGACGC chr6:76419636-Variant-C;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative A ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CGTTCGACATTA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcgttcgacattaAGATCGAGACCCGACGC chr6:76419636-Alternative-A;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative A ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CTATGTGAGGTT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAActatgtgaggttAGATCGAGACCCGACGC chr6:76419636-Alternative-A;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative A ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt ACCTATTCGTCA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAacctattcgtcaAGATCGAGACCCGACGC chr6:76419636-Alternative-A;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Variant C ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt ATATGCGGTCGA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAatatgcggtcgaAGATCGAGACCCGACGC chr6:76419636-Variant-C;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Variant C ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt AAGGTTCACGAA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAaaggttcacgaaAGATCGAGACCCGACGC chr6:76419636-Variant-C;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Reference T ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt GGCGTCCAGATT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAggcgtccagattAGATCGAGACCCGACGC chr6:76419636-Reference-T;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative A ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt AGGCAGTAAGCG CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAaggcagtaagcgAGATCGAGACCCGACGC chr6:76419636-Alternative-A;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Reference T ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt ACAGATGTACGA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAacagatgtacgaAGATCGAGACCCGACGC chr6:76419636-Reference-T;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative A ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt GTGTAACAAGGT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaAtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAgtgtaacaaggtAGATCGAGACCCGACGC chr6:76419636-Alternative-A;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Variant C ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CATTCGGTAGAT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcattcggtagatAGATCGAGACCCGACGC chr6:76419636-Variant-C;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative G ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CGATAGGAGTAT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcgataggagtatAGATCGAGACCCGACGC chr6:76419636-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative G ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt AGACCTGCACAT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAagacctgcacatAGATCGAGACCCGACGC chr6:76419636-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Reference T ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt GTGTCGCAAGTC CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAgtgtcgcaagtcAGATCGAGACCCGACGC chr6:76419636-Reference-T;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative G ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CACTTACAACAG CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcacttacaacagAGATCGAGACCCGACGC chr6:76419636-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative G ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CGTCCTTGCGAA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcgtccttgcgaaAGATCGAGACCCGACGC chr6:76419636-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Alternative G ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CTCAACGGTAGA CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaGtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAActcaacggtagaAGATCGAGACCCGACGC chr6:76419636-Alternative-G;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Variant C ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt AAGCGCCTAGGT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaCtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAaagcgcctaggtAGATCGAGACCCGACGC chr6:76419636-Variant-C;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Reference T ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt ACGTAGCAAGAT CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAacgtagcaagatAGATCGAGACCCGACGC chr6:76419636-Reference-T;Patient-54 chr6:76419636-TC DeNovo Patient-54 intronic SENP6 NA 4.95e-05 -0.01 2.53 -1.72 MYO6 39272 Reference T ctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgt CAATACGTGCAG CGACGCGGTCTCTCTCTctagtaatttatcatggcttctgaatttggatcatatcttaaaaaacaaaTtcagctttcaagtcagaagttgccaggataaatgtatacatgctgttgtAGAGGGAGACGGACGTCTCAATAAcaatacgtgcagAGATCGAGACCCGACGC chr6:76419636-Reference-T;Patient-54 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative C tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GCACGCAAGTCA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAgcacgcaagtcaAGATCGAGACCCGACGC chr6:7723791-Alternative-C;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Variant A tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CTAAGCATCCGG CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAActaagcatccggAGATCGAGACCCGACGC chr6:7723791-Variant-A;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Variant A tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca AGATGGTCGATA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAagatggtcgataAGATCGAGACCCGACGC chr6:7723791-Variant-A;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Variant A tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GCATGTCTACGC CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAgcatgtctacgcAGATCGAGACCCGACGC chr6:7723791-Variant-A;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Variant A tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CGAGATGTGACG CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAcgagatgtgacgAGATCGAGACCCGACGC chr6:7723791-Variant-A;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Variant A tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GCATAGACGATA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccAcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAgcatagacgataAGATCGAGACCCGACGC chr6:7723791-Variant-A;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative T tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GGAACGATGTCG CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAggaacgatgtcgAGATCGAGACCCGACGC chr6:7723791-Alternative-T;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative T tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CGAGCGACATTA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAcgagcgacattaAGATCGAGACCCGACGC chr6:7723791-Alternative-T;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative T tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CTCATGGATCTT CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAActcatggatcttAGATCGAGACCCGACGC chr6:7723791-Alternative-T;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative T tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca AGGCTTGCGAAC CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAaggcttgcgaacAGATCGAGACCCGACGC chr6:7723791-Alternative-T;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative T tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CGCCATTGACCT CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccTcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAcgccattgacctAGATCGAGACCCGACGC chr6:7723791-Alternative-T;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Reference G tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca ACCGGACATATT CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAaccggacatattAGATCGAGACCCGACGC chr6:7723791-Reference-G;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Reference G tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GGAACGGAACGA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAggaacggaacgaAGATCGAGACCCGACGC chr6:7723791-Reference-G;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Reference G tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca ATTATCTAGGCG CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAattatctaggcgAGATCGAGACCCGACGC chr6:7723791-Reference-G;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Reference G tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca AAGCGTCAATGA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAaagcgtcaatgaAGATCGAGACCCGACGC chr6:7723791-Reference-G;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Reference G tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GACGGTGTCCAT CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccGcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAgacggtgtccatAGATCGAGACCCGACGC chr6:7723791-Reference-G;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative C tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca CTTACCTGGACA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAActtacctggacaAGATCGAGACCCGACGC chr6:7723791-Alternative-C;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative C tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca ACGCAGAAGCTA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAacgcagaagctaAGATCGAGACCCGACGC chr6:7723791-Alternative-C;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative C tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca ACTCCAACTGTT CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAactccaactgttAGATCGAGACCCGACGC chr6:7723791-Alternative-C;Patient-30 chr6:7723791-GA Inherited Patient-30 intergenic 0.000223 0.00154 NA NA NA BMP6 3219 Alternative C tcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagca GCGCCGTGAATA CGACGCGGTCTCTCTCTtcctgtcccctttgtcccaatggatacaagggcttgcctgcatgtgtcccCcaaacatgatgtgcacatgttgggagccatagtggacagaagaggagcaAGAGGGAGACGGACGTCTCAATAAgcgccgtgaataAGATCGAGACCCGACGC chr6:7723791-Alternative-C;Patient-30 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative T ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GCATATCTCGAT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgcatatctcgatAGATCGAGACCCGACGC chr6:80317650-Alternative-T;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative T ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GACGAAGATAGA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgacgaagatagaAGATCGAGACCCGACGC chr6:80317650-Alternative-T;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Variant A ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat ATACGGCGCAAT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAatacggcgcaatAGATCGAGACCCGACGC chr6:80317650-Variant-A;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative T ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GGAGTATACAGT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAggagtatacagtAGATCGAGACCCGACGC chr6:80317650-Alternative-T;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative T ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat ACCGTCATGATA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAaccgtcatgataAGATCGAGACCCGACGC chr6:80317650-Alternative-T;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative C ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CAAGCGGCTACA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAcaagcggctacaAGATCGAGACCCGACGC chr6:80317650-Alternative-C;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Variant A ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CTACGCTACGCT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAActacgctacgctAGATCGAGACCCGACGC chr6:80317650-Variant-A;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Variant A ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GTAAGGCTCTAT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgtaaggctctatAGATCGAGACCCGACGC chr6:80317650-Variant-A;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative C ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CGTAATAGCCTA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAcgtaatagcctaAGATCGAGACCCGACGC chr6:80317650-Alternative-C;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Reference G ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GGAACTTACGAA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAggaacttacgaaAGATCGAGACCCGACGC chr6:80317650-Reference-G;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Variant A ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GACTGAACGCGT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgactgaacgcgtAGATCGAGACCCGACGC chr6:80317650-Variant-A;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Variant A ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CATTAGTCTAGG CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcAagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAcattagtctaggAGATCGAGACCCGACGC chr6:80317650-Variant-A;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative C ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GTGGCAGTTCCA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgtggcagttccaAGATCGAGACCCGACGC chr6:80317650-Alternative-C;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Reference G ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat AATCGTCGCATA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAaatcgtcgcataAGATCGAGACCCGACGC chr6:80317650-Reference-G;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative C ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CTCTCGCGGTTA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAActctcgcggttaAGATCGAGACCCGACGC chr6:80317650-Alternative-C;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative T ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GATTGGAATGCA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcTagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAgattggaatgcaAGATCGAGACCCGACGC chr6:80317650-Alternative-T;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Alternative C ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CTTATCGCAAGA CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcCagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAActtatcgcaagaAGATCGAGACCCGACGC chr6:80317650-Alternative-C;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Reference G ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat GGAGGATTCGAG CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAggaggattcgagAGATCGAGACCCGACGC chr6:80317650-Reference-G;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Reference G ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat AGTGCTATCGAG CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAAagtgctatcgagAGATCGAGACCCGACGC chr6:80317650-Reference-G;Patient-89 chr6:80317650-GA Inherited Patient-89 intergenic 0.000191 0.000513 -0.07 1.71 0.23 LCA5 70502 Reference G ttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcat CTAATTGCTCGT CGACGCGGTCTCTCTCTttacagtgagccgagatcgcaccattgcactccagcctggaagacagagcGagactccatctcaaaaaaaagaaaaagaaaagaggtttaatcagctcatAGAGGGAGACGGACGTCTCAATAActaattgctcgtAGATCGAGACCCGACGC chr6:80317650-Reference-G;Patient-89 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative C tcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt ACACTGAACCTT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAacactgaaccttAGATCGAGACCCGACGC chr6:80726893-Alternative-C;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative C tcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GTAACCAAGAGT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgtaaccaagagtAGATCGAGACCCGACGC chr6:80726893-Alternative-C;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative C tcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GGACGTGCAACA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAggacgtgcaacaAGATCGAGACCCGACGC chr6:80726893-Alternative-C;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative C tcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GCGTTGCCATGA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgcgttgccatgaAGATCGAGACCCGACGC chr6:80726893-Alternative-C;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative C tcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GGTGGCGTCATT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccCtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAggtggcgtcattAGATCGAGACCCGACGC chr6:80726893-Alternative-C;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative T tcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt CTCTCTTGACTT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAActctcttgacttAGATCGAGACCCGACGC chr6:80726893-Alternative-T;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Variant G tcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt ACAGGATTCCGA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAacaggattccgaAGATCGAGACCCGACGC chr6:80726893-Variant-G;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative T tcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GTAGCTCTTCGC CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgtagctcttcgcAGATCGAGACCCGACGC chr6:80726893-Alternative-T;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Variant G tcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt AGTGCGACCGAT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAagtgcgaccgatAGATCGAGACCCGACGC chr6:80726893-Variant-G;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Variant G tcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GCAGGATCAACG CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgcaggatcaacgAGATCGAGACCCGACGC chr6:80726893-Variant-G;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Variant G tcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt CGTTGACCGTCA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAcgttgaccgtcaAGATCGAGACCCGACGC chr6:80726893-Variant-G;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Reference A tcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt ATTATGCTGACG CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAattatgctgacgAGATCGAGACCCGACGC chr6:80726893-Reference-A;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Reference A tcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GGTAGCACAATA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAggtagcacaataAGATCGAGACCCGACGC chr6:80726893-Reference-A;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Reference A tcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GCCACCGAGTAA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgccaccgagtaaAGATCGAGACCCGACGC chr6:80726893-Reference-A;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Variant G tcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt AAGCAAGCGTCA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccGtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAaagcaagcgtcaAGATCGAGACCCGACGC chr6:80726893-Variant-G;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative T tcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GATATTCAAGCG CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgatattcaagcgAGATCGAGACCCGACGC chr6:80726893-Alternative-T;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative T tcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GCGCTACGGTAA CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgcgctacggtaaAGATCGAGACCCGACGC chr6:80726893-Alternative-T;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Alternative T tcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GCGCTCCTTCAT CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccTtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgcgctccttcatAGATCGAGACCCGACGC chr6:80726893-Alternative-T;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Reference A tcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt CTCTTGACGTCG CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAActcttgacgtcgAGATCGAGACCCGACGC chr6:80726893-Reference-A;Patient-91 chr6:80726893-AG DeNovo Patient-91 intronic TTK NA 4.95e-05 0.24 6.39 0.34 TTK 12570 Reference A tcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggt GATTACAACGAG CGACGCGGTCTCTCTCTtcagggttcattatttttccccataatggatatccaggtgacctggcaccAtttattgaaaagatcctcctttacctcactgacctgttgtaaattaggtAGAGGGAGACGGACGTCTCAATAAgattacaacgagAGATCGAGACCCGACGC chr6:80726893-Reference-A;Patient-91 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative G tttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttat CAGGACGATCGA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAcaggacgatcgaAGATCGAGACCCGACGC chr6:83953057-Alternative-G;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Reference T tttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttat GGCCATTATGGT CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAggccattatggtAGATCGAGACCCGACGC chr6:83953057-Reference-T;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative A tttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttat AATACGCACCTA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAaatacgcacctaAGATCGAGACCCGACGC chr6:83953057-Alternative-A;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative G tttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttat GACCACGTACAG CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAgaccacgtacagAGATCGAGACCCGACGC chr6:83953057-Alternative-G;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative G tttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttat AGCCGCATCGAA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAagccgcatcgaaAGATCGAGACCCGACGC chr6:83953057-Alternative-G;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative A tttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttat CGTTAGATACCA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAcgttagataccaAGATCGAGACCCGACGC chr6:83953057-Alternative-A;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Reference T tttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttat GTTGACTAACGT CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAgttgactaacgtAGATCGAGACCCGACGC chr6:83953057-Reference-T;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative G tttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttat AGTCAAGCCAAG CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAagtcaagccaagAGATCGAGACCCGACGC chr6:83953057-Alternative-G;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Reference T tttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttat GTTCCACGATAA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAgttccacgataaAGATCGAGACCCGACGC chr6:83953057-Reference-T;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Reference T tttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttat CGTTCGGTTCAC CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAcgttcggttcacAGATCGAGACCCGACGC chr6:83953057-Reference-T;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Reference T tttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttat CGGCACCATTAA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaTattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAcggcaccattaaAGATCGAGACCCGACGC chr6:83953057-Reference-T;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative G tttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttat CTACCGGCAAGA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaGattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAActaccggcaagaAGATCGAGACCCGACGC chr6:83953057-Alternative-G;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative A tttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttat ACGGCTCGTGAT CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAacggctcgtgatAGATCGAGACCCGACGC chr6:83953057-Alternative-A;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Variant C tttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttat AACCAATAGACG CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAaaccaatagacgAGATCGAGACCCGACGC chr6:83953057-Variant-C;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Variant C tttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttat ACATCTGGCTAA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAacatctggctaaAGATCGAGACCCGACGC chr6:83953057-Variant-C;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Variant C tttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttat GAGCATGATCGC CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAgagcatgatcgcAGATCGAGACCCGACGC chr6:83953057-Variant-C;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative A tttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttat ATCGAGTGCGCA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAatcgagtgcgcaAGATCGAGACCCGACGC chr6:83953057-Alternative-A;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Alternative A tttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttat CTATATACGTGG CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaAattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAActatatacgtggAGATCGAGACCCGACGC chr6:83953057-Alternative-A;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Variant C tttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttat CTCAAGGCTATA CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAActcaaggctataAGATCGAGACCCGACGC chr6:83953057-Variant-C;Patient-88 chr6:83953057-TC DeNovo Patient-88 intronic ME1 NA 4.95e-05 -0.01 2.53 0 PGM3 49401 Variant C tttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttat CATCAACGTATC CGACGCGGTCTCTCTCTtttaattatatataatatacaattatatgtaattatataaaatataattaCattatatttatatatttatataatatattatataatagattatatttatAGAGGGAGACGGACGTCTCAATAAcatcaacgtatcAGATCGAGACCCGACGC chr6:83953057-Variant-C;Patient-88 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative C tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GTCTATGGACCG CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgtctatggaccgAGATCGAGACCCGACGC chr6:84053796-Alternative-C;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative T tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GACGCGCAAGAA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgacgcgcaagaaAGATCGAGACCCGACGC chr6:84053796-Alternative-T;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative T tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GAATGCAACTGA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgaatgcaactgaAGATCGAGACCCGACGC chr6:84053796-Alternative-T;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative C tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg ACCGTGGACGTT CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAaccgtggacgttAGATCGAGACCCGACGC chr6:84053796-Alternative-C;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative C tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GCGACTAAGGAC CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgcgactaaggacAGATCGAGACCCGACGC chr6:84053796-Alternative-C;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Reference A tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CGCTACCGATGA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAcgctaccgatgaAGATCGAGACCCGACGC chr6:84053796-Reference-A;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative T tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CGATTATAAGCG CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAcgattataagcgAGATCGAGACCCGACGC chr6:84053796-Alternative-T;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative C tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GGCTATTAGCTT CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAggctattagcttAGATCGAGACCCGACGC chr6:84053796-Alternative-C;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Reference A tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CTAAGGCGAGAT CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAActaaggcgagatAGATCGAGACCCGACGC chr6:84053796-Reference-A;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative C tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CTTATTGAGTGG CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccCgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAActtattgagtggAGATCGAGACCCGACGC chr6:84053796-Alternative-C;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative T tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg AAGATGCTGAAC CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAaagatgctgaacAGATCGAGACCCGACGC chr6:84053796-Alternative-T;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Alternative T tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg ACACCACGTAAC CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccTgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAacaccacgtaacAGATCGAGACCCGACGC chr6:84053796-Alternative-T;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Reference A tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg ATCCTGTCGGAG CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAatcctgtcggagAGATCGAGACCCGACGC chr6:84053796-Reference-A;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Reference A tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg AGAGGTGACGTC CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAagaggtgacgtcAGATCGAGACCCGACGC chr6:84053796-Reference-A;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Reference A tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CGGATCCAATTA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccAgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAcggatccaattaAGATCGAGACCCGACGC chr6:84053796-Reference-A;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Variant G tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GCGGTTGATCCT CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgcggttgatcctAGATCGAGACCCGACGC chr6:84053796-Variant-G;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Variant G tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg AGCGCGAAGCAT CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAagcgcgaagcatAGATCGAGACCCGACGC chr6:84053796-Variant-G;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Variant G tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GGAATATACGCA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAggaatatacgcaAGATCGAGACCCGACGC chr6:84053796-Variant-G;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Variant G tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg CTATGATGCTGA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAActatgatgctgaAGATCGAGACCCGACGC chr6:84053796-Variant-G;Patient-71 chr6:84053796-AG DeNovo Patient-71 intronic ME1 NA 9.9e-05 0.02 2.88 0.43 ME1 87141 Variant G tgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaagg GCGCGCTATGAA CGACGCGGTCTCTCTCTtgttatcccagtgaagcaggaggattgtttgataccaggagttcaaaaccGgcctgagcaacatacatagcaagaccccgtctaaaaaaaaaaaaaaaggAGAGGGAGACGGACGTCTCAATAAgcgcgctatgaaAGATCGAGACCCGACGC chr6:84053796-Variant-G;Patient-71 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative G gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc AGTGCGATATGT CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAagtgcgatatgtAGATCGAGACCCGACGC chr6:85537182-Alternative-G;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative T gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GATACCGGCTGT CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAgataccggctgtAGATCGAGACCCGACGC chr6:85537182-Alternative-T;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative T gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CGGCACGGTATT CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAcggcacggtattAGATCGAGACCCGACGC chr6:85537182-Alternative-T;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative T gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc AGTTCGAACCTA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAagttcgaacctaAGATCGAGACCCGACGC chr6:85537182-Alternative-T;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative T gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CTGGCGTTAACG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAActggcgttaacgAGATCGAGACCCGACGC chr6:85537182-Alternative-T;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative G gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CACATTCGTCGC CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAcacattcgtcgcAGATCGAGACCCGACGC chr6:85537182-Alternative-G;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative G gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GATTCCGGAAGG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAgattccggaaggAGATCGAGACCCGACGC chr6:85537182-Alternative-G;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Variant A gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CTATTGCGTCAA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAActattgcgtcaaAGATCGAGACCCGACGC chr6:85537182-Variant-A;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Variant A gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GCGCACATTCAA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAgcgcacattcaaAGATCGAGACCCGACGC chr6:85537182-Variant-A;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative T gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CTTAAGGCGCGA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgTcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAActtaaggcgcgaAGATCGAGACCCGACGC chr6:85537182-Alternative-T;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative G gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GGCGATTGGTTC CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAggcgattggttcAGATCGAGACCCGACGC chr6:85537182-Alternative-G;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Reference C gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CGGTAGGCATGA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAcggtaggcatgaAGATCGAGACCCGACGC chr6:85537182-Reference-C;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Variant A gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CGGTAGTCAACG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAcggtagtcaacgAGATCGAGACCCGACGC chr6:85537182-Variant-A;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Variant A gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GTTAGCCGGCTA CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAgttagccggctaAGATCGAGACCCGACGC chr6:85537182-Variant-A;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Reference C gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CAGCGAATAGAT CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAcagcgaatagatAGATCGAGACCCGACGC chr6:85537182-Reference-C;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Variant A gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc CTACGTAAGGCG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgAcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAActacgtaaggcgAGATCGAGACCCGACGC chr6:85537182-Variant-A;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Alternative G gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc AGAACCTACGCT CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgGcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAagaacctacgctAGATCGAGACCCGACGC chr6:85537182-Alternative-G;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Reference C gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc AACTTAAGGACG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAaacttaaggacgAGATCGAGACCCGACGC chr6:85537182-Reference-C;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Reference C gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc ATACGAGTCTAC CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAatacgagtctacAGATCGAGACCCGACGC chr6:85537182-Reference-C;Patient-21 chr6:85537182-CA Inherited Patient-21 intergenic NA 0.000513 0.13 4.82 0 TBX18 63227 Reference C gaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtcc GGTGAGTACACG CGACGCGGTCTCTCTCTgaagttctttagtttaattagatctcatttgtcaattttggcttttgttgCcattgcttttggtgttttacacatgaagtccttgcccatgcctatgtccAGAGGGAGACGGACGTCTCAATAAggtgagtacacgAGATCGAGACCCGACGC chr6:85537182-Reference-C;Patient-21 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Reference C agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat CATTCGATGACA CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAcattcgatgacaAGATCGAGACCCGACGC chr6:86103544-Reference-C;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Reference C agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat CGTGCTATTACG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAcgtgctattacgAGATCGAGACCCGACGC chr6:86103544-Reference-C;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Variant T agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AAGAACCAGAAG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAaagaaccagaagAGATCGAGACCCGACGC chr6:86103544-Variant-T;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Reference C agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GATGATATGACG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAgatgatatgacgAGATCGAGACCCGACGC chr6:86103544-Reference-C;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative A agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GGTTACGAGTGG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAggttacgagtggAGATCGAGACCCGACGC chr6:86103544-Alternative-A;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative A agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat ATCGTAGAGCAA CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAatcgtagagcaaAGATCGAGACCCGACGC chr6:86103544-Alternative-A;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative A agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AAGTTCTGGTAC CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAaagttctggtacAGATCGAGACCCGACGC chr6:86103544-Alternative-A;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Reference C agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GATCAAGGTATC CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAgatcaaggtatcAGATCGAGACCCGACGC chr6:86103544-Reference-C;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Reference C agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GCGACTAGTCAT CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccCtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAgcgactagtcatAGATCGAGACCCGACGC chr6:86103544-Reference-C;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative A agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat ACACGCCTGAGA CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAacacgcctgagaAGATCGAGACCCGACGC chr6:86103544-Alternative-A;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative A agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat CGGATAGAAGTT CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccAtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAcggatagaagttAGATCGAGACCCGACGC chr6:86103544-Alternative-A;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Variant T agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat CGAGCCACTTGT CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAcgagccacttgtAGATCGAGACCCGACGC chr6:86103544-Variant-T;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Variant T agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat ATCTGATTACGG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAatctgattacggAGATCGAGACCCGACGC chr6:86103544-Variant-T;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Variant T agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GGAGTCAATGAA CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAggagtcaatgaaAGATCGAGACCCGACGC chr6:86103544-Variant-T;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Variant T agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat GATCCTTCTAAC CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccTtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAgatccttctaacAGATCGAGACCCGACGC chr6:86103544-Variant-T;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative G agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat CGAACGTCTGAC CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAcgaacgtctgacAGATCGAGACCCGACGC chr6:86103544-Alternative-G;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative G agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AGGTACGTTACA CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAaggtacgttacaAGATCGAGACCCGACGC chr6:86103544-Alternative-G;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative G agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AATGATATGCCG CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAaatgatatgccgAGATCGAGACCCGACGC chr6:86103544-Alternative-G;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative G agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AGATACGGAATC CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAagatacggaatcAGATCGAGACCCGACGC chr6:86103544-Alternative-G;Patient-79 chr6:86103544-CT DeNovo Patient-79 intergenic NA 0.000513 -0.1 1.4 -1.21 NT5E 55757 Alternative G agaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaat AACGGTGATTCT CGACGCGGTCTCTCTCTagaagcttcctaaggtagtgttgaggaaatataattaaaagcaaaaccccGtcccagcccagaaaacctctccacaaacataatcaagaaagaaaacaatAGAGGGAGACGGACGTCTCAATAAaacggtgattctAGATCGAGACCCGACGC chr6:86103544-Alternative-G;Patient-79 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Reference G tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CGTCTAACCAGG CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcgtctaaccaggAGATCGAGACCCGACGC chr6:86135221-Reference-G;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Reference G tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CAGCGACCTCAA CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcagcgacctcaaAGATCGAGACCCGACGC chr6:86135221-Reference-G;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Reference G tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct ATTAAGGCGAAC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAattaaggcgaacAGATCGAGACCCGACGC chr6:86135221-Reference-G;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Reference G tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct ATTCCATCGTAC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAattccatcgtacAGATCGAGACCCGACGC chr6:86135221-Reference-G;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Variant A tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GCAGTCAGGTAA CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAgcagtcaggtaaAGATCGAGACCCGACGC chr6:86135221-Variant-A;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative T tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GGTAGTCGTTCG CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAggtagtcgttcgAGATCGAGACCCGACGC chr6:86135221-Alternative-T;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative T tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CAGTACGTTCAA CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcagtacgttcaaAGATCGAGACCCGACGC chr6:86135221-Alternative-T;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Reference G tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CGACGAGCTAAG CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacGcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcgacgagctaagAGATCGAGACCCGACGC chr6:86135221-Reference-G;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative T tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GGCAGTATCATT CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAggcagtatcattAGATCGAGACCCGACGC chr6:86135221-Alternative-T;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative T tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CGCGAATCGAGT CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcgcgaatcgagtAGATCGAGACCCGACGC chr6:86135221-Alternative-T;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative T tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CGTGAGGTTCCA CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacTcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcgtgaggttccaAGATCGAGACCCGACGC chr6:86135221-Alternative-T;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Variant A tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GTATAGCGACAC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAgtatagcgacacAGATCGAGACCCGACGC chr6:86135221-Variant-A;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative C tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct ACGTATCCATTC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAacgtatccattcAGATCGAGACCCGACGC chr6:86135221-Alternative-C;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Variant A tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct ACAACGAGCGAC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAacaacgagcgacAGATCGAGACCCGACGC chr6:86135221-Variant-A;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Variant A tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GATTGCTCGAAT CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAgattgctcgaatAGATCGAGACCCGACGC chr6:86135221-Variant-A;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative C tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GATGGAGCGTCT CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAgatggagcgtctAGATCGAGACCCGACGC chr6:86135221-Alternative-C;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Variant A tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GGTTCCAATTGC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacAcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAggttccaattgcAGATCGAGACCCGACGC chr6:86135221-Variant-A;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative C tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CTAGTTATGCGC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAActagttatgcgcAGATCGAGACCCGACGC chr6:86135221-Alternative-C;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative C tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct CAGACGTAACAC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAcagacgtaacacAGATCGAGACCCGACGC chr6:86135221-Alternative-C;Patient-60 chr6:86135221-GA DeNovo Patient-60 intergenic NA 0.000513 NA NA NA NT5E 24080 Alternative C tttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagct GAATCAGACGGC CGACGCGGTCTCTCTCTtttgcagcaacgtgaatgcagatggaggccatcgtactaagcaaattaacCcaggagcagaaaaccaaatatcacatgttctcactcataagtgggagctAGAGGGAGACGGACGTCTCAATAAgaatcagacggcAGATCGAGACCCGACGC chr6:86135221-Alternative-C;Patient-60 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative C ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa CAGGTGTCGAAG CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcaggtgtcgaagAGATCGAGACCCGACGC chr6:86311757-Alternative-C;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Reference G ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ATACGTACTGAC CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAatacgtactgacAGATCGAGACCCGACGC chr6:86311757-Reference-G;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Reference G ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa GCGACACCGAAT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcgacaccgaatAGATCGAGACCCGACGC chr6:86311757-Reference-G;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative C ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ATTGCTTGCGTT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattgcttgcgttAGATCGAGACCCGACGC chr6:86311757-Alternative-C;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative C ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa GACCATAAGGCG CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgaccataaggcgAGATCGAGACCCGACGC chr6:86311757-Alternative-C;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative C ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa GGTTCAAGCGCA CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggttcaagcgcaAGATCGAGACCCGACGC chr6:86311757-Alternative-C;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative C ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa AGTTGAGACAGT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacCtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagttgagacagtAGATCGAGACCCGACGC chr6:86311757-Alternative-C;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative T ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ACTGTCGCTCCT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactgtcgctcctAGATCGAGACCCGACGC chr6:86311757-Alternative-T;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Reference G ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa AGATCAACCGAT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagatcaaccgatAGATCGAGACCCGACGC chr6:86311757-Reference-G;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative T ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa CATGAAGCGTGC CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcatgaagcgtgcAGATCGAGACCCGACGC chr6:86311757-Alternative-T;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Reference G ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ACTCCGGATTCG CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactccggattcgAGATCGAGACCCGACGC chr6:86311757-Reference-G;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Reference G ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa AGACGATCGCAG CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacGtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAagacgatcgcagAGATCGAGACCCGACGC chr6:86311757-Reference-G;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Variant A ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa GTAACGAGATGT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgtaacgagatgtAGATCGAGACCCGACGC chr6:86311757-Variant-A;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Variant A ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa CGTAATGCACCG CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtaatgcaccgAGATCGAGACCCGACGC chr6:86311757-Variant-A;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Variant A ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa AATCTCAACGAC CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaatctcaacgacAGATCGAGACCCGACGC chr6:86311757-Variant-A;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Variant A ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ACCGACGCCATT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaccgacgccattAGATCGAGACCCGACGC chr6:86311757-Variant-A;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative T ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ACTTCCAACCAC CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacttccaaccacAGATCGAGACCCGACGC chr6:86311757-Alternative-T;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative T ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa ACTACCGCTCGA CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactaccgctcgaAGATCGAGACCCGACGC chr6:86311757-Alternative-T;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Alternative T ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa CGTTGGCGAGAT CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacTtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgttggcgagatAGATCGAGACCCGACGC chr6:86311757-Alternative-T;Patient-12 chr6:86311757-GA DeNovo Patient-12 intergenic 0.000161 0.000513 NA NA NA SYNCRIP 41285 Variant A ttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaa AATCATCGTGCA CGACGCGGTCTCTCTCTttattcttttgtgaaaataaatctccacataaaagcatgaatgaaataacAtcaaaagtcctctaggcagaattttcccaaaaaaaaaaaaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaatcatcgtgcaAGATCGAGACCCGACGC chr6:86311757-Variant-A;Patient-12 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative C ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat AGACGGTACATA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAagacggtacataAGATCGAGACCCGACGC chr6:87692979-Alternative-C;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative C ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CAATGCGCCAGA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAcaatgcgccagaAGATCGAGACCCGACGC chr6:87692979-Alternative-C;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative C ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat ACTAGTTCGCAT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAactagttcgcatAGATCGAGACCCGACGC chr6:87692979-Alternative-C;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative C ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CAGTCGTGCAGT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAcagtcgtgcagtAGATCGAGACCCGACGC chr6:87692979-Alternative-C;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative C ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CGGTAATTAGTC CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcCtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAcggtaattagtcAGATCGAGACCCGACGC chr6:87692979-Alternative-C;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative T ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat AACAGCATCCAT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAaacagcatccatAGATCGAGACCCGACGC chr6:87692979-Alternative-T;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Variant G ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat GTTGGCGCGTAA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAgttggcgcgtaaAGATCGAGACCCGACGC chr6:87692979-Variant-G;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative T ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CTATTGCACGTT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAActattgcacgttAGATCGAGACCCGACGC chr6:87692979-Alternative-T;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative T ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CTAGAAGCGTAA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAActagaagcgtaaAGATCGAGACCCGACGC chr6:87692979-Alternative-T;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative T ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat GTGACTCGCTTC CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAgtgactcgcttcAGATCGAGACCCGACGC chr6:87692979-Alternative-T;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Alternative T ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat GTAGTGAGGATT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcTtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAgtagtgaggattAGATCGAGACCCGACGC chr6:87692979-Alternative-T;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Variant G ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat GTACGAGGCAGT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAgtacgaggcagtAGATCGAGACCCGACGC chr6:87692979-Variant-G;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Reference A ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat AAGCGCGATGCA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAaagcgcgatgcaAGATCGAGACCCGACGC chr6:87692979-Reference-A;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Variant G ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat AGTAATGCGACT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAagtaatgcgactAGATCGAGACCCGACGC chr6:87692979-Variant-G;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Reference A ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat ATTATCGAGTCG CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAattatcgagtcgAGATCGAGACCCGACGC chr6:87692979-Reference-A;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Reference A ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat AGGCGAGTAGGT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAaggcgagtaggtAGATCGAGACCCGACGC chr6:87692979-Reference-A;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Reference A ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat CTGGTGTCCGTT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAActggtgtccgttAGATCGAGACCCGACGC chr6:87692979-Reference-A;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Variant G ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat ATTGATGGCGAA CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAattgatggcgaaAGATCGAGACCCGACGC chr6:87692979-Variant-G;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Variant G ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat GACATAGGTAGT CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcGtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAgacataggtagtAGATCGAGACCCGACGC chr6:87692979-Variant-G;Patient-30 chr6:87692979-AG Inherited Patient-30 intronic HTR1E 3.2e-05 0.00016 NA NA NA HTR1E 45954 Reference A ttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatat ACACGCTACGAG CGACGCGGTCTCTCTCTttcaactgaaattagcaaatcccagaaagaaaattcttccctaagaaatcAtttcttcaaagtgattatttaagagttgctaagttagaaacatacatatAGAGGGAGACGGACGTCTCAATAAacacgctacgagAGATCGAGACCCGACGC chr6:87692979-Reference-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Reference G tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GTATAGCAACGA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAgtatagcaacgaAGATCGAGACCCGACGC chr6:89663838-Reference-G;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Reference G tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc ACAGGTGTCGTC CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAacaggtgtcgtcAGATCGAGACCCGACGC chr6:89663838-Reference-G;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Reference G tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc AGCGTCGTGCAT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAagcgtcgtgcatAGATCGAGACCCGACGC chr6:89663838-Reference-G;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Reference G tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CACGTATACGGC CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAcacgtatacggcAGATCGAGACCCGACGC chr6:89663838-Reference-G;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Variant A tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc ACTCGGACGAGA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAactcggacgagaAGATCGAGACCCGACGC chr6:89663838-Variant-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative T tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CGCTGCGTACAT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAcgctgcgtacatAGATCGAGACCCGACGC chr6:89663838-Alternative-T;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative T tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GATAACGGACTA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAgataacggactaAGATCGAGACCCGACGC chr6:89663838-Alternative-T;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative T tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CTAGAACGGTGG CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAActagaacggtggAGATCGAGACCCGACGC chr6:89663838-Alternative-T;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative T tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc AAGACTACGTCT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAaagactacgtctAGATCGAGACCCGACGC chr6:89663838-Alternative-T;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative T tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GCAGGTGTAGCA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaTtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAgcaggtgtagcaAGATCGAGACCCGACGC chr6:89663838-Alternative-T;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Variant A tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CGGTACTTGCGA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAcggtacttgcgaAGATCGAGACCCGACGC chr6:89663838-Variant-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Variant A tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CTCAATTCTCGA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAActcaattctcgaAGATCGAGACCCGACGC chr6:89663838-Variant-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Reference G tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GGTTCGATATGT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaGtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAggttcgatatgtAGATCGAGACCCGACGC chr6:89663838-Reference-G;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Variant A tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc AGTTCTGGTCAA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAagttctggtcaaAGATCGAGACCCGACGC chr6:89663838-Variant-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Variant A tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GCCGATCTACAC CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaAtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAgccgatctacacAGATCGAGACCCGACGC chr6:89663838-Variant-A;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative C tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GGCTTCTACGAA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAggcttctacgaaAGATCGAGACCCGACGC chr6:89663838-Alternative-C;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative C tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc GATTACTCGGAT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAgattactcggatAGATCGAGACCCGACGC chr6:89663838-Alternative-C;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative C tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CTAGCTTCTTGA CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAActagcttcttgaAGATCGAGACCCGACGC chr6:89663838-Alternative-C;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative C tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc AGCAGAACACAT CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAagcagaacacatAGATCGAGACCCGACGC chr6:89663838-Alternative-C;Patient-30 chr6:89663838-GA Inherited Patient-30 intronic RNGTT 0.000159 4.95e-05 NA NA NA RNGTT 9509 Alternative C tttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgc CGACTGGTAAGG CGACGCGGTCTCTCTCTtttttttaaaaaaaggtatttaggcaacaactagcattatgaatagaacaCtaccttatctcaatactgtattaacattgaatagaaatggcccaaatgcAGAGGGAGACGGACGTCTCAATAAcgactggtaaggAGATCGAGACCCGACGC chr6:89663838-Alternative-C;Patient-30 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative A cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GTCTAGCGCCAA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAgtctagcgccaaAGATCGAGACCCGACGC chr6:91236279-Alternative-A;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Variant G cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AATCTCGTTGAG CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAaatctcgttgagAGATCGAGACCCGACGC chr6:91236279-Variant-G;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative C cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GGCGGATTGTGA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAggcggattgtgaAGATCGAGACCCGACGC chr6:91236279-Alternative-C;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative A cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac ATATACGGTCGT CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAatatacggtcgtAGATCGAGACCCGACGC chr6:91236279-Alternative-A;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative C cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac CGATAAGCGACG CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAcgataagcgacgAGATCGAGACCCGACGC chr6:91236279-Alternative-C;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative A cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac CGCGTGTAACGT CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAcgcgtgtaacgtAGATCGAGACCCGACGC chr6:91236279-Alternative-A;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative A cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac CTACAACCGTGC CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAActacaaccgtgcAGATCGAGACCCGACGC chr6:91236279-Alternative-A;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative A cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac CAGCAGTTCTAA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattAaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAcagcagttctaaAGATCGAGACCCGACGC chr6:91236279-Alternative-A;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative C cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AGGTAAGCCAGG CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAaggtaagccaggAGATCGAGACCCGACGC chr6:91236279-Alternative-C;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Variant G cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AAGATTCTACGG CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAaagattctacggAGATCGAGACCCGACGC chr6:91236279-Variant-G;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative C cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AGTGGCCGACTA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAagtggccgactaAGATCGAGACCCGACGC chr6:91236279-Alternative-C;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Alternative C cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AATACCGGTAGA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattCaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAaataccggtagaAGATCGAGACCCGACGC chr6:91236279-Alternative-C;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Reference T cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GTCGAATACGAA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAgtcgaatacgaaAGATCGAGACCCGACGC chr6:91236279-Reference-T;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Variant G cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GACAACTCAACC CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAgacaactcaaccAGATCGAGACCCGACGC chr6:91236279-Variant-G;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Reference T cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac ACACGTGCGCTT CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAacacgtgcgcttAGATCGAGACCCGACGC chr6:91236279-Reference-T;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Variant G cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AATCTGCGGTTA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAaatctgcggttaAGATCGAGACCCGACGC chr6:91236279-Variant-G;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Reference T cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GGACTCTTGTCA CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAggactcttgtcaAGATCGAGACCCGACGC chr6:91236279-Reference-T;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Reference T cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac AGTCTCGGCCTT CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAagtctcggccttAGATCGAGACCCGACGC chr6:91236279-Reference-T;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Reference T cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GAGCTGTTAGTT CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattTaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAgagctgttagttAGATCGAGACCCGACGC chr6:91236279-Reference-T;Patient-61 chr6:91236279-TG Inherited Patient-61 intronic MAP3K7 0.000128 4.95e-05 0.09 4.13 1.23 MAP3K7 60740 Variant G cttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacac GTACGTCCAACG CGACGCGGTCTCTCTCTcttttaacgtgaatcatgctaatacttggggatgtgactataagagcattGaaaggaaaatatttaattctaaatatatatatgaaaaaaccagaaacacAGAGGGAGACGGACGTCTCAATAAgtacgtccaacgAGATCGAGACCCGACGC chr6:91236279-Variant-G;Patient-61 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Reference C agaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata AATAGTAGCGAC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAaatagtagcgacAGATCGAGACCCGACGC chr6:99315654-Reference-C;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Reference C agaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GGATCGGTTGTC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAggatcggttgtcAGATCGAGACCCGACGC chr6:99315654-Reference-C;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative G agaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GGACATATTAGG CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAggacatattaggAGATCGAGACCCGACGC chr6:99315654-Alternative-G;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Variant T agaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GGTATGCTTGAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAggtatgcttgatAGATCGAGACCCGACGC chr6:99315654-Variant-T;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Reference C agaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ATCGGTTAGCAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAatcggttagcatAGATCGAGACCCGACGC chr6:99315654-Reference-C;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Variant T agaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata CATGTTCCGGAC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAcatgttccggacAGATCGAGACCCGACGC chr6:99315654-Variant-T;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Variant T agaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ATTGCTGCGAAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAattgctgcgaatAGATCGAGACCCGACGC chr6:99315654-Variant-T;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative G agaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GTCGGATGTAAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgtcggatgtaatAGATCGAGACCCGACGC chr6:99315654-Alternative-G;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative A agaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ACGTAACCTGAA CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAacgtaacctgaaAGATCGAGACCCGACGC chr6:99315654-Alternative-A;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative A agaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ACTCGTAACCGC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAactcgtaaccgcAGATCGAGACCCGACGC chr6:99315654-Alternative-A;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Variant T agaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ATACCGGCGTTC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAataccggcgttcAGATCGAGACCCGACGC chr6:99315654-Variant-T;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Variant T agaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GCAGGTATCCAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacTattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgcaggtatccatAGATCGAGACCCGACGC chr6:99315654-Variant-T;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative G agaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GCGCCGCTAATT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgcgccgctaattAGATCGAGACCCGACGC chr6:99315654-Alternative-G;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative A agaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata CAATGGAACAAC CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAcaatggaacaacAGATCGAGACCCGACGC chr6:99315654-Alternative-A;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Reference C agaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ACGAGGCATGCA CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAacgaggcatgcaAGATCGAGACCCGACGC chr6:99315654-Reference-C;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative G agaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GACCATAGTGAA CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgaccatagtgaaAGATCGAGACCCGACGC chr6:99315654-Alternative-G;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative A agaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata ATCGCTTGGTGG CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAatcgcttggtggAGATCGAGACCCGACGC chr6:99315654-Alternative-A;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative A agaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata CAACGTGCGCTT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacAattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAcaacgtgcgcttAGATCGAGACCCGACGC chr6:99315654-Alternative-A;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Alternative G agaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GTTCGTACGTGG CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacGattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgttcgtacgtggAGATCGAGACCCGACGC chr6:99315654-Alternative-G;Patient-21 chr6:99315654-CT Inherited Patient-21 intergenic 3.4e-05 0.00103 -0.2 0.72 0 POU3F2 33073 Reference C agaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaata GACGTCGATTAT CGACGCGGTCTCTCTCTagaaataggaacacttttacactgttggggggactgtaaactagttcaacCattgtggaagtcagtgtggcgattcctcagggatctagaactagaaataAGAGGGAGACGGACGTCTCAATAAgacgtcgattatAGATCGAGACCCGACGC chr6:99315654-Reference-C;Patient-21 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative G tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GTCGCGAACCTT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgtcgcgaaccttAGATCGAGACCCGACGC chr6:99354068-Alternative-G;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative T tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AACACTGTTCCT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaacactgttcctAGATCGAGACCCGACGC chr6:99354068-Alternative-T;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative G tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata CTAACCGGCGAA CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAActaaccggcgaaAGATCGAGACCCGACGC chr6:99354068-Alternative-G;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative T tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GTACGGCACCAT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgtacggcaccatAGATCGAGACCCGACGC chr6:99354068-Alternative-T;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative T tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata ATCATGTTGCGT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAatcatgttgcgtAGATCGAGACCCGACGC chr6:99354068-Alternative-T;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative G tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GGCTACCTTAGG CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAggctaccttaggAGATCGAGACCCGACGC chr6:99354068-Alternative-G;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative G tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata ACCGTTCGAACT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaccgttcgaactAGATCGAGACCCGACGC chr6:99354068-Alternative-G;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Reference C tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GCCGAAGACGTT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgccgaagacgttAGATCGAGACCCGACGC chr6:99354068-Reference-C;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative T tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AAGGTGTACTGA CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaaggtgtactgaAGATCGAGACCCGACGC chr6:99354068-Alternative-T;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Variant A tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata ATCCTGGTTCAT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAatcctggttcatAGATCGAGACCCGACGC chr6:99354068-Variant-A;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative T tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AGGTGGAGTATT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaTacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaggtggagtattAGATCGAGACCCGACGC chr6:99354068-Alternative-T;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Alternative G tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AAGGCGAGTAAC CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaGacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaaggcgagtaacAGATCGAGACCCGACGC chr6:99354068-Alternative-G;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Reference C tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AAGCAGTTCTAC CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaagcagttctacAGATCGAGACCCGACGC chr6:99354068-Reference-C;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Reference C tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata ATAGATGTGACG CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAatagatgtgacgAGATCGAGACCCGACGC chr6:99354068-Reference-C;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Reference C tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GGAATAAGGTTC CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAggaataaggttcAGATCGAGACCCGACGC chr6:99354068-Reference-C;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Variant A tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GTCCGGCGAATT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgtccggcgaattAGATCGAGACCCGACGC chr6:99354068-Variant-A;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Reference C tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata CGTACTTATCGT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaCacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAcgtacttatcgtAGATCGAGACCCGACGC chr6:99354068-Reference-C;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Variant A tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GCAGCAACGAAC CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgcagcaacgaacAGATCGAGACCCGACGC chr6:99354068-Variant-A;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Variant A tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata GCACCATTAAGT CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAgcaccattaagtAGATCGAGACCCGACGC chr6:99354068-Variant-A;Patient-37 chr6:99354068-CA DeNovo Patient-37 intronic FBXL4 NA 4.95e-05 -0.24 0.57 -0.78 FBXL4 41813 Variant A tacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacata AGGCCATTACTA CGACGCGGTCTCTCTCTtacagtgtacctgtgccaggaacactcagctttaaaaaaaaaaaaaaaaaAacttttaagttctggggtacatgtgcagaacatgcaggtgtgttacataAGAGGGAGACGGACGTCTCAATAAaggccattactaAGATCGAGACCCGACGC chr6:99354068-Variant-A;Patient-37 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Variant A atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GTTACCGTCTAT CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAgttaccgtctatAGATCGAGACCCGACGC chr7:100113203-Variant-A;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Reference C atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc AGCATGCTAGAA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAagcatgctagaaAGATCGAGACCCGACGC chr7:100113203-Reference-C;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Reference C atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GCGATTGGTAAC CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAgcgattggtaacAGATCGAGACCCGACGC chr7:100113203-Reference-C;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Variant A atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc ACGAAGTGACGT CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAacgaagtgacgtAGATCGAGACCCGACGC chr7:100113203-Variant-A;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Reference C atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GCAAGTATATGG CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAgcaagtatatggAGATCGAGACCCGACGC chr7:100113203-Reference-C;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Reference C atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc AGGCGTATCGCA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAaggcgtatcgcaAGATCGAGACCCGACGC chr7:100113203-Reference-C;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Variant A atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc ATACGGAATGGT CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAatacggaatggtAGATCGAGACCCGACGC chr7:100113203-Variant-A;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Reference C atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc ACGCGTTAGTAA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcCtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAacgcgttagtaaAGATCGAGACCCGACGC chr7:100113203-Reference-C;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Variant A atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GGAATAACGCTA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAggaataacgctaAGATCGAGACCCGACGC chr7:100113203-Variant-A;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Variant A atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc CGCGAGATACAC CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcAtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAcgcgagatacacAGATCGAGACCCGACGC chr7:100113203-Variant-A;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative T atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GGCTAATGCGTC CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAggctaatgcgtcAGATCGAGACCCGACGC chr7:100113203-Alternative-T;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative T atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GCGGTGTTAAGG CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAgcggtgttaaggAGATCGAGACCCGACGC chr7:100113203-Alternative-T;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative G atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc CAAGCAACGACG CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAcaagcaacgacgAGATCGAGACCCGACGC chr7:100113203-Alternative-G;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative T atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc ATTCGTTCGTAC CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAattcgttcgtacAGATCGAGACCCGACGC chr7:100113203-Alternative-T;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative T atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc AGTGTAAGGAGA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAagtgtaaggagaAGATCGAGACCCGACGC chr7:100113203-Alternative-T;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative G atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc AGCGTATCGAGA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAagcgtatcgagaAGATCGAGACCCGACGC chr7:100113203-Alternative-G;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative G atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc AAGGTAGTTGCA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAaaggtagttgcaAGATCGAGACCCGACGC chr7:100113203-Alternative-G;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative T atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GGAATGTGCCGA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcTtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAggaatgtgccgaAGATCGAGACCCGACGC chr7:100113203-Alternative-T;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative G atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GGTTGAACATGA CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAggttgaacatgaAGATCGAGACCCGACGC chr7:100113203-Alternative-G;Patient-82 chr7:100113203-CA DeNovo Patient-82 intergenic NA 0.000513 0.09 4.08 1.04 SAP25 58066 Alternative G atctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggc GGAACAACACAG CGACGCGGTCTCTCTCTatctcagctcattgcaacctctacctcctggattcaagcgattctcctgcGtcagcctaccaagtagctgagattaccgacgcgtgccaccacgcccggcAGAGGGAGACGGACGTCTCAATAAggaacaacacagAGATCGAGACCCGACGC chr7:100113203-Alternative-G;Patient-82 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative C cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GGACGTGTAAGG CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAggacgtgtaaggAGATCGAGACCCGACGC chr7:100420899-Alternative-C;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Reference G cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CGAACCGTAATT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAcgaaccgtaattAGATCGAGACCCGACGC chr7:100420899-Reference-G;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative C cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GTCGCGACGTTA CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgtcgcgacgttaAGATCGAGACCCGACGC chr7:100420899-Alternative-C;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Variant A cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc AGGTGAATCCGC CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAaggtgaatccgcAGATCGAGACCCGACGC chr7:100420899-Variant-A;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Variant A cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CACGGTCTATCG CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAcacggtctatcgAGATCGAGACCCGACGC chr7:100420899-Variant-A;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Variant A cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc ACACAACTGCGA CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAacacaactgcgaAGATCGAGACCCGACGC chr7:100420899-Variant-A;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative T cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CTAATGCCGGCA CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAActaatgccggcaAGATCGAGACCCGACGC chr7:100420899-Alternative-T;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative T cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc AGAAGATGGCGC CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAagaagatggcgcAGATCGAGACCCGACGC chr7:100420899-Alternative-T;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative T cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CGGATTGCTGAC CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAcggattgctgacAGATCGAGACCCGACGC chr7:100420899-Alternative-T;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative T cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc AAGGCGTATAAC CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAaaggcgtataacAGATCGAGACCCGACGC chr7:100420899-Alternative-T;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative C cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GTTCATTGCGCG CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgttcattgcgcgAGATCGAGACCCGACGC chr7:100420899-Alternative-C;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative C cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CAGTCGCAAGCA CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAcagtcgcaagcaAGATCGAGACCCGACGC chr7:100420899-Alternative-C;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative C cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GCAAGGCGAGTT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaCaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgcaaggcgagttAGATCGAGACCCGACGC chr7:100420899-Alternative-C;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Variant A cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc ACGAGCATGTGG CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAacgagcatgtggAGATCGAGACCCGACGC chr7:100420899-Variant-A;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Reference G cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc AAGGCGCACGTT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAaaggcgcacgttAGATCGAGACCCGACGC chr7:100420899-Reference-G;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Variant A cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc ATCGGCTTAGCG CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaAaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAatcggcttagcgAGATCGAGACCCGACGC chr7:100420899-Variant-A;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Alternative T cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GTAACCTACGCT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaTaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgtaacctacgctAGATCGAGACCCGACGC chr7:100420899-Alternative-T;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Reference G cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GTTGTTCAAGGT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgttgttcaaggtAGATCGAGACCCGACGC chr7:100420899-Reference-G;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Reference G cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc CGGATGCGTCTA CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAcggatgcgtctaAGATCGAGACCCGACGC chr7:100420899-Reference-G;Patient-30 chr7:100420899-GA Inherited Patient-30 intronic EPHB4 0.000255 0.000148 NA NA NA EPHB4 4243 Reference G cacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagc GACCGTAGGAGT CGACGCGGTCTCTCTCTcacaggcaagatctcgggagctggaactccgaagacaagtaggggtgtgaGaggcagagaggcccccaggtggagacatcaccgctgcaaagtcttgagcAGAGGGAGACGGACGTCTCAATAAgaccgtaggagtAGATCGAGACCCGACGC chr7:100420899-Reference-G;Patient-30 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative T catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct AGTACCTTAACG CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAagtaccttaacgAGATCGAGACCCGACGC chr7:100737783-Alternative-T;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Reference A catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct CAATGGTTGAGT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAcaatggttgagtAGATCGAGACCCGACGC chr7:100737783-Reference-A;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative C catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct CGTTCTTGCAAT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAcgttcttgcaatAGATCGAGACCCGACGC chr7:100737783-Alternative-C;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Reference A catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GACGACTCTGAC CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgacgactctgacAGATCGAGACCCGACGC chr7:100737783-Reference-A;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Reference A catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GTATCACTGCGG CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgtatcactgcggAGATCGAGACCCGACGC chr7:100737783-Reference-A;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative T catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct ATCGTAAGGTGT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAatcgtaaggtgtAGATCGAGACCCGACGC chr7:100737783-Alternative-T;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative C catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct AATATGGCCGCG CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAaatatggccgcgAGATCGAGACCCGACGC chr7:100737783-Alternative-C;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative C catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GCGCTGTTGCAT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgcgctgttgcatAGATCGAGACCCGACGC chr7:100737783-Alternative-C;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Reference A catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct ACCATTGTGGAT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAaccattgtggatAGATCGAGACCCGACGC chr7:100737783-Reference-A;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Reference A catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GCATGACCAGAT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaAtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgcatgaccagatAGATCGAGACCCGACGC chr7:100737783-Reference-A;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative C catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct ATCGCGATATGT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAatcgcgatatgtAGATCGAGACCCGACGC chr7:100737783-Alternative-C;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative C catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GTGGCATTACTA CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaCtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgtggcattactaAGATCGAGACCCGACGC chr7:100737783-Alternative-C;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Variant G catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GGATATCCGTCG CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAggatatccgtcgAGATCGAGACCCGACGC chr7:100737783-Variant-G;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative T catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GGTCGGTAGAGT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAggtcggtagagtAGATCGAGACCCGACGC chr7:100737783-Alternative-T;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative T catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct AATCGCACTCAA CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAaatcgcactcaaAGATCGAGACCCGACGC chr7:100737783-Alternative-T;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Alternative T catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct CGTGTGCGTTCA CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaTtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAcgtgtgcgttcaAGATCGAGACCCGACGC chr7:100737783-Alternative-T;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Variant G catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GAGTACCGGCAA CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgagtaccggcaaAGATCGAGACCCGACGC chr7:100737783-Variant-G;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Variant G catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct GACCTACCTTAT CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAgacctaccttatAGATCGAGACCCGACGC chr7:100737783-Variant-G;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Variant G catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct CGAATCGAGTAA CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAAcgaatcgagtaaAGATCGAGACCCGACGC chr7:100737783-Variant-G;Patient-25 chr7:100737783-AG Inherited Patient-25 intergenic 0.000318 0.000160205 0.07 3.84 0.66 SERPINE1 32586 Variant G catgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcct CTAACTAGGTGG CGACGCGGTCTCTCTCTcatgcttgattatttgcttcaaggaaatacacctttataagtaatactcaGtaactactgggtttgagaatgaaggtgtcagaacgaatgagattgtcctAGAGGGAGACGGACGTCTCAATAActaactaggtggAGATCGAGACCCGACGC chr7:100737783-Variant-G;Patient-25 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative C tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgc ATATACGCCGCA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAatatacgccgcaAGATCGAGACCCGACGC chr7:100765913-Alternative-C;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Variant T tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GGACCGTAAGAA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAggaccgtaagaaAGATCGAGACCCGACGC chr7:100765913-Variant-T;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Variant T tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GCGACTATAAGA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAgcgactataagaAGATCGAGACCCGACGC chr7:100765913-Variant-T;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Reference G tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CACGATGCACAG CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAcacgatgcacagAGATCGAGACCCGACGC chr7:100765913-Reference-G;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Variant T tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CATCATCCTACG CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAcatcatcctacgAGATCGAGACCCGACGC chr7:100765913-Variant-T;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Reference G tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CTAAGACGATGA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAActaagacgatgaAGATCGAGACCCGACGC chr7:100765913-Reference-G;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Reference G tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CGTATCAACAAC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAcgtatcaacaacAGATCGAGACCCGACGC chr7:100765913-Reference-G;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Reference G tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CACGGATTAGTC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAcacggattagtcAGATCGAGACCCGACGC chr7:100765913-Reference-G;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Reference G tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgc AATAAGACGTCG CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccGgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAaataagacgtcgAGATCGAGACCCGACGC chr7:100765913-Reference-G;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Variant T tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CTCAACTGTCGA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAActcaactgtcgaAGATCGAGACCCGACGC chr7:100765913-Variant-T;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Variant T tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GTCGTTACGAAT CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccTgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAgtcgttacgaatAGATCGAGACCCGACGC chr7:100765913-Variant-T;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative A tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgc ACTAGGCCTACC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAactaggcctaccAGATCGAGACCCGACGC chr7:100765913-Alternative-A;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative A tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CAGCGAATGGTT CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAcagcgaatggttAGATCGAGACCCGACGC chr7:100765913-Alternative-A;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative A tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GGATGGCTGTGA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAggatggctgtgaAGATCGAGACCCGACGC chr7:100765913-Alternative-A;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative A tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GCGAAGGTTGTC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAgcgaaggttgtcAGATCGAGACCCGACGC chr7:100765913-Alternative-A;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative A tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgc AGTATTGCACAC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccAgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAagtattgcacacAGATCGAGACCCGACGC chr7:100765913-Alternative-A;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative C tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgc GTCATAATAGCG CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAgtcataatagcgAGATCGAGACCCGACGC chr7:100765913-Alternative-C;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative C tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgc CTTAGGTCCTAC CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAActtaggtcctacAGATCGAGACCCGACGC chr7:100765913-Alternative-C;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative C tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgc ATAGAGCGCATA CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAatagagcgcataAGATCGAGACCCGACGC chr7:100765913-Alternative-C;Patient-30 chr7:100765913-GT Inherited Patient-30 intergenic 0.000382 0.000513 NA NA NA AP1S1 31772 Alternative C tcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgc AGCGTTGCGGTT CGACGCGGTCTCTCTCTtcccctgaaatccacagcccggtaactcactctcttatctctgaccctccCgaagccagagatctagctatttcatcagcatggacttttctttctgtgcAGAGGGAGACGGACGTCTCAATAAagcgttgcggttAGATCGAGACCCGACGC chr7:100765913-Alternative-C;Patient-30 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative T atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta AGTCGATATGAG CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAagtcgatatgagAGATCGAGACCCGACGC chr7:101384554-Alternative-T;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative C atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CAATACGCGTGG CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcaatacgcgtggAGATCGAGACCCGACGC chr7:101384554-Alternative-C;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative T atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta AGATTGCTCGCA CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAagattgctcgcaAGATCGAGACCCGACGC chr7:101384554-Alternative-T;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative T atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta ACGGTCTAGGAT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAacggtctaggatAGATCGAGACCCGACGC chr7:101384554-Alternative-T;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative C atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CACTTCCGTGGT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcacttccgtggtAGATCGAGACCCGACGC chr7:101384554-Alternative-C;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Variant A atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta ACTTCCTCGATA CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAacttcctcgataAGATCGAGACCCGACGC chr7:101384554-Variant-A;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative C atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CTAGACACATCA CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAActagacacatcaAGATCGAGACCCGACGC chr7:101384554-Alternative-C;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Variant A atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CGGCGGATGATT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcggcggatgattAGATCGAGACCCGACGC chr7:101384554-Variant-A;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative T atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta GACATTGGCGCT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAgacattggcgctAGATCGAGACCCGACGC chr7:101384554-Alternative-T;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Reference G atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CGAGCGTTCGAT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcgagcgttcgatAGATCGAGACCCGACGC chr7:101384554-Reference-G;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative C atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CTCAATGTCTAC CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAActcaatgtctacAGATCGAGACCCGACGC chr7:101384554-Alternative-C;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Variant A atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta AGGAGTACTCTT CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAaggagtactcttAGATCGAGACCCGACGC chr7:101384554-Variant-A;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Variant A atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta GACAAGTAAGTC CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAgacaagtaagtcAGATCGAGACCCGACGC chr7:101384554-Variant-A;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Reference G atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta GAATGTACCTAC CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAgaatgtacctacAGATCGAGACCCGACGC chr7:101384554-Reference-G;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Variant A atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CATTACGCCTGG CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaAaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcattacgcctggAGATCGAGACCCGACGC chr7:101384554-Variant-A;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Reference G atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta ACCACGATCACA CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAaccacgatcacaAGATCGAGACCCGACGC chr7:101384554-Reference-G;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative C atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CGATTCGGTAAG CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaCaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcgattcggtaagAGATCGAGACCCGACGC chr7:101384554-Alternative-C;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Reference G atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta GTTAGCGTTCAC CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAgttagcgttcacAGATCGAGACCCGACGC chr7:101384554-Reference-G;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Alternative T atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta CACGTACCGAAG CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaTaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAcacgtaccgaagAGATCGAGACCCGACGC chr7:101384554-Alternative-T;Patient-62 chr7:101384554-GA DeNovo Patient-62 intergenic NA 0.000513 0.19 5.72 1.37 CUX1 74629 Reference G atgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagta ACGCGCACATGA CGACGCGGTCTCTCTCTatgggtgactgttagtgtcagaaccagcctcttgggaagagtgaggtgaaGaaaagcaagaccaggtgagcccttggtcatccacacagccacaggagtaAGAGGGAGACGGACGTCTCAATAAacgcgcacatgaAGATCGAGACCCGACGC chr7:101384554-Reference-G;Patient-62 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Variant T tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CGACCACATTGA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcgaccacattgaAGATCGAGACCCGACGC chr7:1029611-Variant-T;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Variant T tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg AACCGGCGAATC CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAaaccggcgaatcAGATCGAGACCCGACGC chr7:1029611-Variant-T;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Reference C tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg GGCTGATAGACG CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAggctgatagacgAGATCGAGACCCGACGC chr7:1029611-Reference-C;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Variant T tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg GTTACGTGATCA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAgttacgtgatcaAGATCGAGACCCGACGC chr7:1029611-Variant-T;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative A tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg GAGATCGTACGG CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAgagatcgtacggAGATCGAGACCCGACGC chr7:1029611-Alternative-A;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative G tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CACAACCTTACA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcacaaccttacaAGATCGAGACCCGACGC chr7:1029611-Alternative-G;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative A tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CAGTATGAGCTT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcagtatgagcttAGATCGAGACCCGACGC chr7:1029611-Alternative-A;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative A tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg ACGCCAATTGAT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAacgccaattgatAGATCGAGACCCGACGC chr7:1029611-Alternative-A;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Reference C tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CTTATCGCGAAC CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAActtatcgcgaacAGATCGAGACCCGACGC chr7:1029611-Reference-C;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Reference C tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CTTGTCGAGTAA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAActtgtcgagtaaAGATCGAGACCCGACGC chr7:1029611-Reference-C;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Reference C tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CTCGGTGATGAA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAActcggtgatgaaAGATCGAGACCCGACGC chr7:1029611-Reference-C;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Variant T tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg GCATATGGTAAG CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAgcatatggtaagAGATCGAGACCCGACGC chr7:1029611-Variant-T;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative A tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg ACCATTGTCCAT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAaccattgtccatAGATCGAGACCCGACGC chr7:1029611-Alternative-A;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Reference C tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg ACTCGCACATAA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgCgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAactcgcacataaAGATCGAGACCCGACGC chr7:1029611-Reference-C;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative G tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CATTGCGCGAGA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcattgcgcgagaAGATCGAGACCCGACGC chr7:1029611-Alternative-G;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative A tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CAACGAGCATAA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgAgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcaacgagcataaAGATCGAGACCCGACGC chr7:1029611-Alternative-A;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative G tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CACGTGCATATA CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcacgtgcatataAGATCGAGACCCGACGC chr7:1029611-Alternative-G;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative G tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg ACGCGCTCTCTT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAacgcgctctcttAGATCGAGACCCGACGC chr7:1029611-Alternative-G;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Variant T tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CAACGTGTTGAT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgTgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAAcaacgtgttgatAGATCGAGACCCGACGC chr7:1029611-Variant-T;Patient-21 chr7:1029611-CT Inherited Patient-21 intergenic NA 0.000513 -0.17 0.86 0 GPER1 96831 Alternative G tgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctggg CTTACGTTGACT CGACGCGGTCTCTCTCTtgtgagtggcacctgtgctggtggtggcgtggtcggcagtgtgagtggcgGgtgtgctgggggcggtgtggtcggcagtgtgagtggcgcgtgtgctgggAGAGGGAGACGGACGTCTCAATAActtacgttgactAGATCGAGACCCGACGC chr7:1029611-Alternative-G;Patient-21 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative G ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca AGGAACGATTGA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAaggaacgattgaAGATCGAGACCCGACGC chr7:1031538-Alternative-G;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative G ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca ACGCGGATAGCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAacgcggatagcaAGATCGAGACCCGACGC chr7:1031538-Alternative-G;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative G ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca ACGATATGCCAA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAacgatatgccaaAGATCGAGACCCGACGC chr7:1031538-Alternative-G;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Reference C ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GATATCTCAGCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgatatctcagcaAGATCGAGACCCGACGC chr7:1031538-Reference-C;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative A ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca ACAGATCACCAT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAacagatcaccatAGATCGAGACCCGACGC chr7:1031538-Alternative-A;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Variant T ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca AGGTGATTAGCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAaggtgattagcaAGATCGAGACCCGACGC chr7:1031538-Variant-T;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Reference C ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca ACGAGTTCCAAT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAacgagttccaatAGATCGAGACCCGACGC chr7:1031538-Reference-C;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Reference C ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca AACGATGTGCGG CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAaacgatgtgcggAGATCGAGACCCGACGC chr7:1031538-Reference-C;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Reference C ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca CTAAGAGCAGGT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAActaagagcaggtAGATCGAGACCCGACGC chr7:1031538-Reference-C;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative G ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca AGTCGTGGTCGT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAagtcgtggtcgtAGATCGAGACCCGACGC chr7:1031538-Alternative-G;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Reference C ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GTTACACCATGT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctCtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgttacaccatgtAGATCGAGACCCGACGC chr7:1031538-Reference-C;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative A ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GGTGGCGTAGAA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAggtggcgtagaaAGATCGAGACCCGACGC chr7:1031538-Alternative-A;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative A ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca CAATATTCGTCC CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAcaatattcgtccAGATCGAGACCCGACGC chr7:1031538-Alternative-A;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative A ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca CGCTACGAACAG CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAcgctacgaacagAGATCGAGACCCGACGC chr7:1031538-Alternative-A;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative A ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GTGCTTCTAAGA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctAtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgtgcttctaagaAGATCGAGACCCGACGC chr7:1031538-Alternative-A;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Alternative G ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GATATACTGCCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctGtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgatatactgccaAGATCGAGACCCGACGC chr7:1031538-Alternative-G;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Variant T ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca ACTTGATTCCGT CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAacttgattccgtAGATCGAGACCCGACGC chr7:1031538-Variant-T;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Variant T ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca CTTGGTAGACCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAActtggtagaccaAGATCGAGACCCGACGC chr7:1031538-Variant-T;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Variant T ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GCCTGAGAGTCA CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgcctgagagtcaAGATCGAGACCCGACGC chr7:1031538-Variant-T;Patient-25 chr7:1031538-CT Inherited Patient-25 intergenic 0.000287 0.00103 0.15 5.12 1.1 COX19 16302 Variant T ccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatcca GTGAGACTGACC CGACGCGGTCTCTCTCTccgagtccctccccagtccttctccttcctggtctgtgggtgtgagggctTtggggacctcgagtgagtggggagtggtggatttgtcctgctttatccaAGAGGGAGACGGACGTCTCAATAAgtgagactgaccAGATCGAGACCCGACGC chr7:1031538-Variant-T;Patient-25 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Reference C gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ATATGCGTCAGA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAatatgcgtcagaAGATCGAGACCCGACGC chr7:103624180-Reference-C;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative G gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CACGTTCAAGCA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcacgttcaagcaAGATCGAGACCCGACGC chr7:103624180-Alternative-G;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative A gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ATCGTCGGTTCG CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAatcgtcggttcgAGATCGAGACCCGACGC chr7:103624180-Alternative-A;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative A gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CGTCGTTGATAA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcgtcgttgataaAGATCGAGACCCGACGC chr7:103624180-Alternative-A;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Reference C gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CGCTTGAGTTAT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcgcttgagttatAGATCGAGACCCGACGC chr7:103624180-Reference-C;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Reference C gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ACGTACTACGGC CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAacgtactacggcAGATCGAGACCCGACGC chr7:103624180-Reference-C;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative G gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat GCGTTCACCTTC CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAgcgttcaccttcAGATCGAGACCCGACGC chr7:103624180-Alternative-G;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative G gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CTCAATATACGC CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAActcaatatacgcAGATCGAGACCCGACGC chr7:103624180-Alternative-G;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative A gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ATTGCTCGAGCG CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAattgctcgagcgAGATCGAGACCCGACGC chr7:103624180-Alternative-A;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative A gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaat GTACACGGATAT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAgtacacggatatAGATCGAGACCCGACGC chr7:103624180-Alternative-A;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative G gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CGTGATACAGAA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcgtgatacagaaAGATCGAGACCCGACGC chr7:103624180-Alternative-G;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Variant T gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CAGATGTAGAAG CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcagatgtagaagAGATCGAGACCCGACGC chr7:103624180-Variant-T;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Reference C gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CGACTAGACGCT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcgactagacgctAGATCGAGACCCGACGC chr7:103624180-Reference-C;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Variant T gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat AAGATAGGTACG CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAaagataggtacgAGATCGAGACCCGACGC chr7:103624180-Variant-T;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Variant T gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CTCATCTTCTGT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAActcatcttctgtAGATCGAGACCCGACGC chr7:103624180-Variant-T;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Variant T gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat GTCGCTAGCCAT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAgtcgctagccatAGATCGAGACCCGACGC chr7:103624180-Variant-T;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative G gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ATAGGTAACGCA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagGctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAataggtaacgcaAGATCGAGACCCGACGC chr7:103624180-Alternative-G;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Alternative A gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaat CGACAGTTGCAT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagActaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAcgacagttgcatAGATCGAGACCCGACGC chr7:103624180-Alternative-A;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Reference C gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat GGACGATATGAT CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagCctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAggacgatatgatAGATCGAGACCCGACGC chr7:103624180-Reference-C;Patient-3 chr7:103624180-CT DeNovo Patient-3 intronic RELN NA 4.19e-05 -0.12 1.21 -2.55 RELN 5782 Variant T gataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaat ATCGTAGGTGAA CGACGCGGTCTCTCTCTgataagtcaatttgccttttaacgtgtattaagtcattactcaggcatagTctaaaccacctctctctgtccacagtgaacctgcccattccaacctaatAGAGGGAGACGGACGTCTCAATAAatcgtaggtgaaAGATCGAGACCCGACGC chr7:103624180-Variant-T;Patient-3 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Reference C ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt AGCGGAAGCTGA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAagcggaagctgaAGATCGAGACCCGACGC chr7:103749146-Reference-C;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Reference C ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt ACGACTGCGCTT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAacgactgcgcttAGATCGAGACCCGACGC chr7:103749146-Reference-C;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Reference C ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt ACGTAGGATGAT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAacgtaggatgatAGATCGAGACCCGACGC chr7:103749146-Reference-C;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative A ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt CTACACGAATGT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAActacacgaatgtAGATCGAGACCCGACGC chr7:103749146-Alternative-A;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative A ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt AGCATCTTCCTA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAagcatcttcctaAGATCGAGACCCGACGC chr7:103749146-Alternative-A;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Reference C ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GATCGCGTAATA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgatcgcgtaataAGATCGAGACCCGACGC chr7:103749146-Reference-C;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Reference C ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt ATTACGTTCCGT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagCtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAattacgttccgtAGATCGAGACCCGACGC chr7:103749146-Reference-C;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative A ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GCATTCTGGCAT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgcattctggcatAGATCGAGACCCGACGC chr7:103749146-Alternative-A;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative G ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GGCTTAGATCAT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAggcttagatcatAGATCGAGACCCGACGC chr7:103749146-Alternative-G;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Variant T ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt ATAGTCACGGTT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAatagtcacggttAGATCGAGACCCGACGC chr7:103749146-Variant-T;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative G ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt AATCGGTGTTCA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAaatcggtgttcaAGATCGAGACCCGACGC chr7:103749146-Alternative-G;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Variant T ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt AATACCGCACTA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAaataccgcactaAGATCGAGACCCGACGC chr7:103749146-Variant-T;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative A ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GTCAACGGACCT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgtcaacggacctAGATCGAGACCCGACGC chr7:103749146-Alternative-A;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative A ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GATAGCGCGACT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagAtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgatagcgcgactAGATCGAGACCCGACGC chr7:103749146-Alternative-A;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Variant T ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt CTATTCGGACAT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAActattcggacatAGATCGAGACCCGACGC chr7:103749146-Variant-T;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Variant T ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt CGTGTCGATTAA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAcgtgtcgattaaAGATCGAGACCCGACGC chr7:103749146-Variant-T;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Variant T ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GAGAGCTCGAGT CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagTtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgagagctcgagtAGATCGAGACCCGACGC chr7:103749146-Variant-T;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative G ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt GAGTCATCGTCG CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAgagtcatcgtcgAGATCGAGACCCGACGC chr7:103749146-Alternative-G;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative G ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt AACCGGACGCAA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAaaccggacgcaaAGATCGAGACCCGACGC chr7:103749146-Alternative-G;Patient-37 chr7:103749146-CT DeNovo Patient-37 intergenic 3.2e-05 0.00154 0 2.61 0.21 ORC5 99348 Alternative G ctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgt CGAGCCACTACA CGACGCGGTCTCTCTCTctgtgggatgtctgtttactctgttgatagtttattttgctgtgcagaagGtgtttagtttaattagatcaatttttgcttttgttgtgattgcttttgtAGAGGGAGACGGACGTCTCAATAAcgagccactacaAGATCGAGACCCGACGC chr7:103749146-Alternative-G;Patient-37 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Reference G aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CAACGGCTTACG CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcaacggcttacgAGATCGAGACCCGACGC chr7:105931834-Reference-G;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative T aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GTTCACGACGCA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgttcacgacgcaAGATCGAGACCCGACGC chr7:105931834-Alternative-T;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Reference G aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CGAATTGCTTCT CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcgaattgcttctAGATCGAGACCCGACGC chr7:105931834-Reference-G;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative T aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CTAACCGGCACA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAActaaccggcacaAGATCGAGACCCGACGC chr7:105931834-Alternative-T;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative T aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag AGCGTGGAGTAC CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAagcgtggagtacAGATCGAGACCCGACGC chr7:105931834-Alternative-T;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative T aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GGTTCCATCGTC CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAggttccatcgtcAGATCGAGACCCGACGC chr7:105931834-Alternative-T;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Variant A aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GCCAATCGCAGA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgccaatcgcagaAGATCGAGACCCGACGC chr7:105931834-Variant-A;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Reference G aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GCATAGGTAACA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgcataggtaacaAGATCGAGACCCGACGC chr7:105931834-Reference-G;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Variant A aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CGAGTGTGATTA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcgagtgtgattaAGATCGAGACCCGACGC chr7:105931834-Variant-A;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Reference G aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CATGCCACAGGT CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcatgccacaggtAGATCGAGACCCGACGC chr7:105931834-Reference-G;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Variant A aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CATGTGAACGGC CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcatgtgaacggcAGATCGAGACCCGACGC chr7:105931834-Variant-A;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative T aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GGAGGTCGGTTA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccTgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAggaggtcggttaAGATCGAGACCCGACGC chr7:105931834-Alternative-T;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Reference G aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GAGTTAACGCAA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccGgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgagttaacgcaaAGATCGAGACCCGACGC chr7:105931834-Reference-G;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Variant A aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GTTGTGCAACCG CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgttgtgcaaccgAGATCGAGACCCGACGC chr7:105931834-Variant-A;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Variant A aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag AGGTTCACATCA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccAgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAaggttcacatcaAGATCGAGACCCGACGC chr7:105931834-Variant-A;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative C aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GTTACGTTCAAG CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgttacgttcaagAGATCGAGACCCGACGC chr7:105931834-Alternative-C;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative C aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GGCGTAAGGCTT CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAggcgtaaggcttAGATCGAGACCCGACGC chr7:105931834-Alternative-C;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative C aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CTACGATCCTGT CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAActacgatcctgtAGATCGAGACCCGACGC chr7:105931834-Alternative-C;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative C aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag CATTATGACGGT CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAcattatgacggtAGATCGAGACCCGACGC chr7:105931834-Alternative-C;Patient-49 chr7:105931834-GA DeNovo Patient-49 intergenic 6.4e-05 0.00103 0.15 5.04 2.22 NAMPT 6195 Alternative C aaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagag GATTCACGCCGA CGACGCGGTCTCTCTCTaaatcctgaaatgtggacaacatggaatcaagtcagagccaactggttccCgacacgggtatgaaagagaaataaatcttttctgttgtaagccacagagAGAGGGAGACGGACGTCTCAATAAgattcacgccgaAGATCGAGACCCGACGC chr7:105931834-Alternative-C;Patient-49 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Reference A tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CTGCTACACCAC CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAActgctacaccacAGATCGAGACCCGACGC chr7:106724138-Reference-A;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Reference A tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta ACGTCGGTGGAA CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAacgtcggtggaaAGATCGAGACCCGACGC chr7:106724138-Reference-A;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Reference A tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta ACGTCAATGGAT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAacgtcaatggatAGATCGAGACCCGACGC chr7:106724138-Reference-A;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Variant G tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta GACCGTCTATAA CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAgaccgtctataaAGATCGAGACCCGACGC chr7:106724138-Variant-G;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative C tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CGTTCATCGGAG CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcgttcatcggagAGATCGAGACCCGACGC chr7:106724138-Alternative-C;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative C tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta AGCAGGACATTC CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAagcaggacattcAGATCGAGACCCGACGC chr7:106724138-Alternative-C;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative C tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CTAATCAAGGCG CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAActaatcaaggcgAGATCGAGACCCGACGC chr7:106724138-Alternative-C;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Variant G tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CTACGTCCTGAC CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAActacgtcctgacAGATCGAGACCCGACGC chr7:106724138-Variant-G;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Reference A tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CTAAGTGCCGAT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAActaagtgccgatAGATCGAGACCCGACGC chr7:106724138-Reference-A;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Variant G tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CGTTGTCGTAGG CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcgttgtcgtaggAGATCGAGACCCGACGC chr7:106724138-Variant-G;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative T tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CTACGACAATGT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAActacgacaatgtAGATCGAGACCCGACGC chr7:106724138-Alternative-T;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative T tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta ACGACGTAATGA CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAacgacgtaatgaAGATCGAGACCCGACGC chr7:106724138-Alternative-T;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Reference A tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CGGATGCTTGCT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaAcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcggatgcttgctAGATCGAGACCCGACGC chr7:106724138-Reference-A;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative T tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta AGGTAGATGGAA CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAaggtagatggaaAGATCGAGACCCGACGC chr7:106724138-Alternative-T;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative T tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CATTGAGTCGTC CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcattgagtcgtcAGATCGAGACCCGACGC chr7:106724138-Alternative-T;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative C tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta AGTCAGTTGGTT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAagtcagttggttAGATCGAGACCCGACGC chr7:106724138-Alternative-C;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative C tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta GGTTCGAATCTT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaCcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAggttcgaatcttAGATCGAGACCCGACGC chr7:106724138-Alternative-C;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Alternative T tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CGGATTGGTTCG CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaTcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcggattggttcgAGATCGAGACCCGACGC chr7:106724138-Alternative-T;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Variant G tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta ATCGTCAAGACG CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAatcgtcaagacgAGATCGAGACCCGACGC chr7:106724138-Variant-G;Patient-73 chr7:106724138-AG DeNovo Patient-73 intronic PRKAR2B NA 4.95e-05 -0.18 0.79 -0.84 PRKAR2B 38959 Variant G tgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagta CGAAGTTACAGT CGACGCGGTCTCTCTCTtgctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaGcctccgcctcctgggttcaagtgactgtcctgcctcagcgtcccaagtaAGAGGGAGACGGACGTCTCAATAAcgaagttacagtAGATCGAGACCCGACGC chr7:106724138-Variant-G;Patient-73 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Variant T gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct AGTGAACCTAGA CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAagtgaacctagaAGATCGAGACCCGACGC chr7:106742228-Variant-T;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Variant T gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct AATGCTTCGTGT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAaatgcttcgtgtAGATCGAGACCCGACGC chr7:106742228-Variant-T;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative G gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GGATGTCTGTCG CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAggatgtctgtcgAGATCGAGACCCGACGC chr7:106742228-Alternative-G;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative A gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct AGACGGACTTAA CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAagacggacttaaAGATCGAGACCCGACGC chr7:106742228-Alternative-A;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Variant T gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct AGATCGCTGCGT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAagatcgctgcgtAGATCGAGACCCGACGC chr7:106742228-Variant-T;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative A gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CGCTCGAACGTT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAcgctcgaacgttAGATCGAGACCCGACGC chr7:106742228-Alternative-A;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative A gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GGCTATCACACG CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAggctatcacacgAGATCGAGACCCGACGC chr7:106742228-Alternative-A;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Variant T gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CAACAACGTCGG CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAcaacaacgtcggAGATCGAGACCCGACGC chr7:106742228-Variant-T;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative A gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CGCTCCTTACCT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAcgctccttacctAGATCGAGACCCGACGC chr7:106742228-Alternative-A;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative G gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GTAACAACGGCG CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgtaacaacggcgAGATCGAGACCCGACGC chr7:106742228-Alternative-G;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative A gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CGCTAGATGGTT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggAtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAcgctagatggttAGATCGAGACCCGACGC chr7:106742228-Alternative-A;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Variant T gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CTTGAACTAGGT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggTtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAActtgaactaggtAGATCGAGACCCGACGC chr7:106742228-Variant-T;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative G gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GTAGGACTTGAA CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgtaggacttgaaAGATCGAGACCCGACGC chr7:106742228-Alternative-G;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Reference C gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CTCTTCGATCTT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAActcttcgatcttAGATCGAGACCCGACGC chr7:106742228-Reference-C;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Reference C gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GCCAGGAATTAA CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgccaggaattaaAGATCGAGACCCGACGC chr7:106742228-Reference-C;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative G gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct AGGTGACTACGG CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAaggtgactacggAGATCGAGACCCGACGC chr7:106742228-Alternative-G;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Reference C gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GTACTATCTCGT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgtactatctcgtAGATCGAGACCCGACGC chr7:106742228-Reference-C;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Reference C gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GCACCTACAACT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgcacctacaactAGATCGAGACCCGACGC chr7:106742228-Reference-C;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Alternative G gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct CAGGCTTGTAAT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggGtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAcaggcttgtaatAGATCGAGACCCGACGC chr7:106742228-Alternative-G;Patient-36 chr7:106742228-CT DeNovo Patient-36 intronic PRKAR2B NA 4.95e-05 -0.21 0.68 -1.08 PRKAR2B 57049 Reference C gaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattct GCGTCTAATGAT CGACGCGGTCTCTCTCTgaccaacctggtgggtgagggattgcagccctaggcaggaatgccatgggCtaccactgtcctaactcaaaatcagtagctatttttatgaataaattctAGAGGGAGACGGACGTCTCAATAAgcgtctaatgatAGATCGAGACCCGACGC chr7:106742228-Reference-C;Patient-36 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative T ccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ATTCGTATGTGG CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAattcgtatgtggAGATCGAGACCCGACGC chr7:107327329-Alternative-T;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Variant A ccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ACACTGTCGCCA CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAacactgtcgccaAGATCGAGACCCGACGC chr7:107327329-Variant-A;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Variant A ccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg CGTAGTGGACGA CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAcgtagtggacgaAGATCGAGACCCGACGC chr7:107327329-Variant-A;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Variant A ccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GATAGCCGTAAC CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgatagccgtaacAGATCGAGACCCGACGC chr7:107327329-Variant-A;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative C ccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ATTGGTTACGGT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAattggttacggtAGATCGAGACCCGACGC chr7:107327329-Alternative-C;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative C ccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ATTCGCCTAGAA CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAattcgcctagaaAGATCGAGACCCGACGC chr7:107327329-Alternative-C;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Variant A ccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GCATCAGTTGAT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgcatcagttgatAGATCGAGACCCGACGC chr7:107327329-Variant-A;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Variant A ccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GGATGCGGAGAT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttAtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAggatgcggagatAGATCGAGACCCGACGC chr7:107327329-Variant-A;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative T ccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg CATGCCAATATC CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAcatgccaatatcAGATCGAGACCCGACGC chr7:107327329-Alternative-T;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative C ccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg AAGACGCGTATA CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAaagacgcgtataAGATCGAGACCCGACGC chr7:107327329-Alternative-C;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative C ccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg CTAATTCCGGAT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAActaattccggatAGATCGAGACCCGACGC chr7:107327329-Alternative-C;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative C ccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GACTGACTTCGG CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttCtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgactgacttcggAGATCGAGACCCGACGC chr7:107327329-Alternative-C;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative T ccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GATGCGTAGCGT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgatgcgtagcgtAGATCGAGACCCGACGC chr7:107327329-Alternative-T;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative T ccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ATCGTCCTACGT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAatcgtcctacgtAGATCGAGACCCGACGC chr7:107327329-Alternative-T;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Reference G ccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg CGATTAGATAGG CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAcgattagataggAGATCGAGACCCGACGC chr7:107327329-Reference-G;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Alternative T ccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg AGATCAGCCGCT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttTtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAagatcagccgctAGATCGAGACCCGACGC chr7:107327329-Alternative-T;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Reference G ccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg AGATAAGCGGCG CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAagataagcggcgAGATCGAGACCCGACGC chr7:107327329-Reference-G;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Reference G ccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GTCGCATATTCT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgtcgcatattctAGATCGAGACCCGACGC chr7:107327329-Reference-G;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Reference G ccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg ACGAACACGCCA CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAacgaacacgccaAGATCGAGACCCGACGC chr7:107327329-Reference-G;Patient-37 chr7:107327329-GA DeNovo Patient-37 intronic SLC26A4 NA 4.95e-05 0.62 10.47 0.78 SLC26A4 26248 Reference G ccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacagggg GATCGACCGCTT CGACGCGGTCTCTCTCTccatcaatctgggttccattcattggtttggggaactcaggcctactgttGtttttaaagtatgtgctttgcagttgtacttgaaagtgtggcacaggggAGAGGGAGACGGACGTCTCAATAAgatcgaccgcttAGATCGAGACCCGACGC chr7:107327329-Reference-G;Patient-37 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative C tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ACTGAACGGAGT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAactgaacggagtAGATCGAGACCCGACGC chr7:107648034-Alternative-C;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative C tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AGCGCACGTATA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAagcgcacgtataAGATCGAGACCCGACGC chr7:107648034-Alternative-C;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative C tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact CGCGTACGTAAG CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAcgcgtacgtaagAGATCGAGACCCGACGC chr7:107648034-Alternative-C;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative C tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact GACGAGGTGGAA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAgacgaggtggaaAGATCGAGACCCGACGC chr7:107648034-Alternative-C;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Variant G tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AGGACGACTGAC CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAaggacgactgacAGATCGAGACCCGACGC chr7:107648034-Variant-G;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative C tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AGTAGGTTAGGT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgCagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAagtaggttaggtAGATCGAGACCCGACGC chr7:107648034-Alternative-C;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative T tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AAGTCCGCGTCA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAaagtccgcgtcaAGATCGAGACCCGACGC chr7:107648034-Alternative-T;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative T tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ATTAACGTCTGG CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAattaacgtctggAGATCGAGACCCGACGC chr7:107648034-Alternative-T;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Variant G tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact GCGGTTGGTCTT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAgcggttggtcttAGATCGAGACCCGACGC chr7:107648034-Variant-G;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative T tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ACCGTGCAGTGT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAaccgtgcagtgtAGATCGAGACCCGACGC chr7:107648034-Alternative-T;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Reference A tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact GTGACTCTGCCA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAgtgactctgccaAGATCGAGACCCGACGC chr7:107648034-Reference-A;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Variant G tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact CGCTTGATAACA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAcgcttgataacaAGATCGAGACCCGACGC chr7:107648034-Variant-G;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Variant G tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ATTGACGGCATC CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAattgacggcatcAGATCGAGACCCGACGC chr7:107648034-Variant-G;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Reference A tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AGCTAAGGTACA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAagctaaggtacaAGATCGAGACCCGACGC chr7:107648034-Reference-A;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Variant G tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact AGCCGAAGGAGT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgGagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAagccgaaggagtAGATCGAGACCCGACGC chr7:107648034-Variant-G;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative T tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ACACAACTAGCG CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAacacaactagcgAGATCGAGACCCGACGC chr7:107648034-Alternative-T;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Alternative T tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact ACGCTCTCCATA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgTagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAacgctctccataAGATCGAGACCCGACGC chr7:107648034-Alternative-T;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Reference A tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact CTGCTAGTGAAT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAActgctagtgaatAGATCGAGACCCGACGC chr7:107648034-Reference-A;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Reference A tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact GATAGCAGCGCA CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAgatagcagcgcaAGATCGAGACCCGACGC chr7:107648034-Reference-A;Patient-90 chr7:107648034-AG DeNovo Patient-90 intergenic NA 0.000513 0.76 11.54 3.45 LAMB1 4229 Reference A tgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccact CGGCTCGTTGTT CGACGCGGTCTCTCTCTtgaggcacattacatgtgctcaataagtgtgtctcgaatgaaagtaaatgAagactagtctccatgttttaaaaacttccttaaatcttaaatgtccactAGAGGGAGACGGACGTCTCAATAAcggctcgttgttAGATCGAGACCCGACGC chr7:107648034-Reference-A;Patient-90 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Variant T gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatg CTAGGTAAGCTT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAActaggtaagcttAGATCGAGACCCGACGC chr7:107699525-Variant-T;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Variant T gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatg GTGAGGTTGTGG CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgtgaggttgtggAGATCGAGACCCGACGC chr7:107699525-Variant-T;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Reference C gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatg GTGTTGCTCCGT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgtgttgctccgtAGATCGAGACCCGACGC chr7:107699525-Reference-C;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Reference C gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatg CACAGAACATGA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAcacagaacatgaAGATCGAGACCCGACGC chr7:107699525-Reference-C;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative A gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACGGTCGGTGAA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacggtcggtgaaAGATCGAGACCCGACGC chr7:107699525-Alternative-A;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative A gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatg ATACGAATACGG CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAatacgaatacggAGATCGAGACCCGACGC chr7:107699525-Alternative-A;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Variant T gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatg CTAGTGACATGG CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAActagtgacatggAGATCGAGACCCGACGC chr7:107699525-Variant-T;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Variant T gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACTTGATCCGAT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacttgatccgatAGATCGAGACCCGACGC chr7:107699525-Variant-T;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative A gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACACGACGTCGT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacacgacgtcgtAGATCGAGACCCGACGC chr7:107699525-Alternative-A;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative A gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatg GTAACTAGCGAT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgtaactagcgatAGATCGAGACCCGACGC chr7:107699525-Alternative-A;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative G gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatg CACGAAGTTAGA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAcacgaagttagaAGATCGAGACCCGACGC chr7:107699525-Alternative-G;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative G gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatg ATAAGCGGAGAA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAataagcggagaaAGATCGAGACCCGACGC chr7:107699525-Alternative-G;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative A gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatg GTAGTCGCAATT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacAgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgtagtcgcaattAGATCGAGACCCGACGC chr7:107699525-Alternative-A;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative G gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatg GTCGTTCAATGA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgtcgttcaatgaAGATCGAGACCCGACGC chr7:107699525-Alternative-G;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Variant T gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatg GAGTATTCGCTA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacTgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAgagtattcgctaAGATCGAGACCCGACGC chr7:107699525-Variant-T;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Reference C gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatg AGCTCGACCAAT CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAagctcgaccaatAGATCGAGACCCGACGC chr7:107699525-Reference-C;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative G gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACGATTAATCGG CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacgattaatcggAGATCGAGACCCGACGC chr7:107699525-Alternative-G;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Alternative G gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatg CATCGGACCTAC CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacGgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAcatcggacctacAGATCGAGACCCGACGC chr7:107699525-Alternative-G;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Reference C gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACGTGCGAATCG CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacgtgcgaatcgAGATCGAGACCCGACGC chr7:107699525-Reference-C;Patient-20 chr7:107699525-CT DeNovo Patient-20 intronic LAMB4 NA 4.95e-05 -0.31 0.34 -3.04 LAMB1 55720 Reference C gcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatg ACACGACTTCAA CGACGCGGTCTCTCTCTgcctgtcgtactgctgattgacccaattgttgggcagtgctttcttatacCgaagtacaatctgccacttttttttttttttttttttttttttgagatgAGAGGGAGACGGACGTCTCAATAAacacgacttcaaAGATCGAGACCCGACGC chr7:107699525-Reference-C;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Reference G gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtg CGGCTACGAGAA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAcggctacgagaaAGATCGAGACCCGACGC chr7:107768099-Reference-G;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Variant C gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtg ACTCTTAGCGAT CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAactcttagcgatAGATCGAGACCCGACGC chr7:107768099-Variant-C;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Reference G gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtg GCATTGAAGCGG CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgcattgaagcggAGATCGAGACCCGACGC chr7:107768099-Reference-G;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Variant C gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtg ACGCACGATAGT CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAacgcacgatagtAGATCGAGACCCGACGC chr7:107768099-Variant-C;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative T gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtg GGTGGTAGGCTA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAggtggtaggctaAGATCGAGACCCGACGC chr7:107768099-Alternative-T;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative T gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtg GTCGGAAGCGTT CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgtcggaagcgttAGATCGAGACCCGACGC chr7:107768099-Alternative-T;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Reference G gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtg ACGAAGCAGCAT CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAacgaagcagcatAGATCGAGACCCGACGC chr7:107768099-Reference-G;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Reference G gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtg ATCCTCGGCGAA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAatcctcggcgaaAGATCGAGACCCGACGC chr7:107768099-Reference-G;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative T gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtg GCCACGTTCACA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgccacgttcacaAGATCGAGACCCGACGC chr7:107768099-Alternative-T;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Variant C gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtg CGAACGTAGTGG CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAcgaacgtagtggAGATCGAGACCCGACGC chr7:107768099-Variant-C;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative A gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtg GACAACAGCTAT CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgacaacagctatAGATCGAGACCCGACGC chr7:107768099-Alternative-A;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative A gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtg GCGGCTTATACG CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgcggcttatacgAGATCGAGACCCGACGC chr7:107768099-Alternative-A;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative T gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtg CTGCTTCTGTGG CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAActgcttctgtggAGATCGAGACCCGACGC chr7:107768099-Alternative-T;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Reference G gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtg AGTATTCGTGCA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggGacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAagtattcgtgcaAGATCGAGACCCGACGC chr7:107768099-Reference-G;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative A gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtg AACGCTCACGAC CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAaacgctcacgacAGATCGAGACCCGACGC chr7:107768099-Alternative-A;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative A gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtg AGCCGCAGTAGA CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAagccgcagtagaAGATCGAGACCCGACGC chr7:107768099-Alternative-A;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative T gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtg GTGATCATCGGC CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggTacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgtgatcatcggcAGATCGAGACCCGACGC chr7:107768099-Alternative-T;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Variant C gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtg GAGTATACGCGG CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgagtatacgcggAGATCGAGACCCGACGC chr7:107768099-Variant-C;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Alternative A gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtg GAGGTACACCAC CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggAacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAgaggtacaccacAGATCGAGACCCGACGC chr7:107768099-Alternative-A;Patient-20 chr7:107768099-GC DeNovo Patient-20 intronic LAMB4 NA 0.00016 0.15 5.15 1.4 LAMB4 2701 Variant C gagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtg AGTCTATCGAAC CGACGCGGTCTCTCTCTgagcagcatcaacatcatgtggaaatgccaatgatcagggcccagccaggCacctactgattcacagactctgggatggggcccagcatgctgccacgtgAGAGGGAGACGGACGTCTCAATAAagtctatcgaacAGATCGAGACCCGACGC chr7:107768099-Variant-C;Patient-20 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Reference G atatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CAGTAGCTTAAC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcagtagcttaacAGATCGAGACCCGACGC chr7:108247091-Reference-G;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative T atatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg AGATTCGCACAG CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAagattcgcacagAGATCGAGACCCGACGC chr7:108247091-Alternative-T;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative T atatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg AATGGATACGCT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAaatggatacgctAGATCGAGACCCGACGC chr7:108247091-Alternative-T;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Reference G atatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CGATATCTTGTC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcgatatcttgtcAGATCGAGACCCGACGC chr7:108247091-Reference-G;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Reference G atatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg GGCTCCAATTAA CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAggctccaattaaAGATCGAGACCCGACGC chr7:108247091-Reference-G;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative T atatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CATTGACGACGC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcattgacgacgcAGATCGAGACCCGACGC chr7:108247091-Alternative-T;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Variant A atatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg GGCTCTGTGAAC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAggctctgtgaacAGATCGAGACCCGACGC chr7:108247091-Variant-A;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Reference G atatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg AGCGTCACGCTT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAagcgtcacgcttAGATCGAGACCCGACGC chr7:108247091-Reference-G;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Reference G atatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CGGTCGTACGTT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcGcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcggtcgtacgttAGATCGAGACCCGACGC chr7:108247091-Reference-G;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Variant A atatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg ATTACGAGGCGG CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAattacgaggcggAGATCGAGACCCGACGC chr7:108247091-Variant-A;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative T atatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CGATCAAGTCAT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcgatcaagtcatAGATCGAGACCCGACGC chr7:108247091-Alternative-T;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Variant A atatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg GACGTAGGCAGT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAgacgtaggcagtAGATCGAGACCCGACGC chr7:108247091-Variant-A;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative T atatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CGGACCGTGTAA CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcTcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcggaccgtgtaaAGATCGAGACCCGACGC chr7:108247091-Alternative-T;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Variant A atatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg ACGTTGAGCCTA CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAacgttgagcctaAGATCGAGACCCGACGC chr7:108247091-Variant-A;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Variant A atatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CATTGGTTGCAC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcActtccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcattggttgcacAGATCGAGACCCGACGC chr7:108247091-Variant-A;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative C atatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg GCGAGATTGACG CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAgcgagattgacgAGATCGAGACCCGACGC chr7:108247091-Alternative-C;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative C atatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg ATCTTGCGCTAT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAatcttgcgctatAGATCGAGACCCGACGC chr7:108247091-Alternative-C;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative C atatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CACATACGCGAC CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcacatacgcgacAGATCGAGACCCGACGC chr7:108247091-Alternative-C;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative C atatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg GGTTCTATCCAA CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAggttctatccaaAGATCGAGACCCGACGC chr7:108247091-Alternative-C;Patient-85 chr7:108247091-GA Inherited Patient-85 intergenic 0.000478 0.000513 0.05 3.41 1.82 DNAJB9 36901 Alternative C atatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcagg CGAGTTGATTGT CGACGCGGTCTCTCTCTatatccccagcctctaccatttatctgggactatatcttcctgtctactcCcttccaaatatccagttcccccttaaaggtaatctgtgtggcctgcaggAGAGGGAGACGGACGTCTCAATAAcgagttgattgtAGATCGAGACCCGACGC chr7:108247091-Alternative-C;Patient-85 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Variant G ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga ACTCTCACGTAT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAactctcacgtatAGATCGAGACCCGACGC chr7:108259425-Variant-G;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Reference C ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GAAGTGTCCGAA CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgaagtgtccgaaAGATCGAGACCCGACGC chr7:108259425-Reference-C;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Variant G ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GATCAGGACGAC CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgatcaggacgacAGATCGAGACCCGACGC chr7:108259425-Variant-G;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Variant G ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CTCATTGATCGT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAActcattgatcgtAGATCGAGACCCGACGC chr7:108259425-Variant-G;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative T ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga AATAACGGCGTT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAaataacggcgttAGATCGAGACCCGACGC chr7:108259425-Alternative-T;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Reference C ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GCAGTACGCCAA CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgcagtacgccaaAGATCGAGACCCGACGC chr7:108259425-Reference-C;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Variant G ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga AGCCGATAACGC CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAagccgataacgcAGATCGAGACCCGACGC chr7:108259425-Variant-G;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative T ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GCAACAATAGCA CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgcaacaatagcaAGATCGAGACCCGACGC chr7:108259425-Alternative-T;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative T ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga AAGGACGCAACC CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAaaggacgcaaccAGATCGAGACCCGACGC chr7:108259425-Alternative-T;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Variant G ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CGCGCAACAATT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgGtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAcgcgcaacaattAGATCGAGACCCGACGC chr7:108259425-Variant-G;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative T ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga ACCTACAGACGT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAacctacagacgtAGATCGAGACCCGACGC chr7:108259425-Alternative-T;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Reference C ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CGCCGTATCATA CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAcgccgtatcataAGATCGAGACCCGACGC chr7:108259425-Reference-C;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Reference C ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CTTGAACCTACC CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAActtgaacctaccAGATCGAGACCCGACGC chr7:108259425-Reference-C;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative A ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GATCGGTAACTT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgatcggtaacttAGATCGAGACCCGACGC chr7:108259425-Alternative-A;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative T ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GGAAGTGACTAT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgTtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAggaagtgactatAGATCGAGACCCGACGC chr7:108259425-Alternative-T;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative A ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga ACTAATAGAGCG CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAactaatagagcgAGATCGAGACCCGACGC chr7:108259425-Alternative-A;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative A ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga GATAGGCTGCGA CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAgataggctgcgaAGATCGAGACCCGACGC chr7:108259425-Alternative-A;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Reference C ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CGCTCGCTACAT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgCtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAcgctcgctacatAGATCGAGACCCGACGC chr7:108259425-Reference-C;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative A ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga ACGCGATCGTTC CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAAacgcgatcgttcAGATCGAGACCCGACGC chr7:108259425-Alternative-A;Patient-87 chr7:108259425-CG Inherited Patient-87 intergenic 0.000414 0.00256 0 2.63 2.56 DNAJB9 49235 Alternative A ataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctga CTAATGTGGTGT CGACGCGGTCTCTCTCTataacaaatcagtgaagcatctacacctccatttattttgaatacctgtgAtacatcactgtaaccaatggtatgttcttttgtcccacaaatgagctgaAGAGGGAGACGGACGTCTCAATAActaatgtggtgtAGATCGAGACCCGACGC chr7:108259425-Alternative-A;Patient-87 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative G tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CTACCATACGTT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAActaccatacgttAGATCGAGACCCGACGC chr7:112094695-Alternative-G;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Reference C tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CTCTCTCGTCAC CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAActctctcgtcacAGATCGAGACCCGACGC chr7:112094695-Reference-C;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative G tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaa AGAACCGACACG CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAagaaccgacacgAGATCGAGACCCGACGC chr7:112094695-Alternative-G;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Variant T tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CGCTGTACTCGA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAcgctgtactcgaAGATCGAGACCCGACGC chr7:112094695-Variant-T;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative G tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaa AGACGTACTGAT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAagacgtactgatAGATCGAGACCCGACGC chr7:112094695-Alternative-G;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative A tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaa ATCGACGCGTCT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAatcgacgcgtctAGATCGAGACCCGACGC chr7:112094695-Alternative-A;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative A tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GTTGGACGAATA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAgttggacgaataAGATCGAGACCCGACGC chr7:112094695-Alternative-A;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative A tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaa AATCGCGATTGT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAaatcgcgattgtAGATCGAGACCCGACGC chr7:112094695-Alternative-A;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Variant T tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GGCTGAGAATAT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAggctgagaatatAGATCGAGACCCGACGC chr7:112094695-Variant-T;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Reference C tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaa AGGACATTGACT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAaggacattgactAGATCGAGACCCGACGC chr7:112094695-Reference-C;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative A tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaa AATGGACCACGT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAaatggaccacgtAGATCGAGACCCGACGC chr7:112094695-Alternative-A;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Reference C tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CTCTGGCTCTGT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAActctggctctgtAGATCGAGACCCGACGC chr7:112094695-Reference-C;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative A tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaa ACCTTCGTTAAG CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaAcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAaccttcgttaagAGATCGAGACCCGACGC chr7:112094695-Alternative-A;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative G tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CTAGGTCGTCGA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAActaggtcgtcgaAGATCGAGACCCGACGC chr7:112094695-Alternative-G;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Variant T tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GTAGAGTATGGT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAgtagagtatggtAGATCGAGACCCGACGC chr7:112094695-Variant-T;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Variant T tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CGCTGTTCAGCT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAcgctgttcagctAGATCGAGACCCGACGC chr7:112094695-Variant-T;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Alternative G tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GTTATACCGTGA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaGcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAgttataccgtgaAGATCGAGACCCGACGC chr7:112094695-Alternative-G;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Variant T tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GATCCGAGCGAT CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaTcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAgatccgagcgatAGATCGAGACCCGACGC chr7:112094695-Variant-T;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Reference C tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaa CAACCGAAGCTA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAcaaccgaagctaAGATCGAGACCCGACGC chr7:112094695-Reference-C;Patient-88 chr7:112094695-CT DeNovo Patient-88 intronic IFRD1 0.000606 0.000198 -0.05 1.94 1.03 IFRD1 31495 Reference C tattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaa GTGCTCTTACTA CGACGCGGTCTCTCTCTtattttaagccttttttgtcttctctcacttcaagttgtctttaaaactaCcctgccttaactccttaattccccttaacataagacatgtgtaacctaaAGAGGGAGACGGACGTCTCAATAAgtgctcttactaAGATCGAGACCCGACGC chr7:112094695-Reference-C;Patient-88 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative C tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga ACCTAACTTGCA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAacctaacttgcaAGATCGAGACCCGACGC chr7:115760027-Alternative-C;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative C tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga AGCTACTCGGCA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAagctactcggcaAGATCGAGACCCGACGC chr7:115760027-Alternative-C;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Reference A tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CGCCTCGATATC CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAcgcctcgatatcAGATCGAGACCCGACGC chr7:115760027-Reference-A;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative C tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga GCAGTTCGACGT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAgcagttcgacgtAGATCGAGACCCGACGC chr7:115760027-Alternative-C;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative C tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga AGCATCCGACCA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAagcatccgaccaAGATCGAGACCCGACGC chr7:115760027-Alternative-C;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative C tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga GTCGAGTGGACA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatCaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAgtcgagtggacaAGATCGAGACCCGACGC chr7:115760027-Alternative-C;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative G tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CTCGTACGTCAC CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAActcgtacgtcacAGATCGAGACCCGACGC chr7:115760027-Alternative-G;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Reference A tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga GTACGGCGTCTA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAgtacggcgtctaAGATCGAGACCCGACGC chr7:115760027-Reference-A;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Reference A tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CTGGTGAACCTA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAActggtgaacctaAGATCGAGACCCGACGC chr7:115760027-Reference-A;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative G tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga GCATTCGTCTAT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAgcattcgtctatAGATCGAGACCCGACGC chr7:115760027-Alternative-G;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative G tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga ATAGCCGCTCCT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAatagccgctcctAGATCGAGACCCGACGC chr7:115760027-Alternative-G;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative G tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CAGCGTTAAGTT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAcagcgttaagttAGATCGAGACCCGACGC chr7:115760027-Alternative-G;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Variant T tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CAGCTTAGATGG CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAcagcttagatggAGATCGAGACCCGACGC chr7:115760027-Variant-T;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Alternative G tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga ATTGTTCGCGTT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatGaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAattgttcgcgttAGATCGAGACCCGACGC chr7:115760027-Alternative-G;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Variant T tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CGTGATCCTCGT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAcgtgatcctcgtAGATCGAGACCCGACGC chr7:115760027-Variant-T;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Reference A tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CTAGGCTCTGCT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAActaggctctgctAGATCGAGACCCGACGC chr7:115760027-Reference-A;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Reference A tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga ACTAGGTACCGG CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatAaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAactaggtaccggAGATCGAGACCCGACGC chr7:115760027-Reference-A;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Variant T tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga ATCTGCGTACTA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAatctgcgtactaAGATCGAGACCCGACGC chr7:115760027-Variant-T;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Variant T tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga GAGCAACACCTA CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAgagcaacacctaAGATCGAGACCCGACGC chr7:115760027-Variant-T;Patient-26 chr7:115760027-AT DeNovo Patient-26 intergenic NA 0.000513 0.13 4.73 0.22 TES 90519 Variant T tagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtga CGTCGCTTACGT CGACGCGGTCTCTCTCTtagttaattacattggaaatgcttacaatgttaagtaaaacagacaagatTaaaaaaaaaaaagtaaccaaacattaaaaagaaattagagctgcagtgaAGAGGGAGACGGACGTCTCAATAAcgtcgcttacgtAGATCGAGACCCGACGC chr7:115760027-Variant-T;Patient-26 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative C aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga CAACAAGGTAAC CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAcaacaaggtaacAGATCGAGACCCGACGC chr7:116188333-Alternative-C;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative C aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GGTGTTATCAGT CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAggtgttatcagtAGATCGAGACCCGACGC chr7:116188333-Alternative-C;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative C aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GCGATATCCGAC CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAgcgatatccgacAGATCGAGACCCGACGC chr7:116188333-Alternative-C;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative C aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga CATCAGACGAGA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAcatcagacgagaAGATCGAGACCCGACGC chr7:116188333-Alternative-C;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative C aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GTCGCGTGTGAA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgCaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAgtcgcgtgtgaaAGATCGAGACCCGACGC chr7:116188333-Alternative-C;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative A aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga AACACACGCTTA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAaacacacgcttaAGATCGAGACCCGACGC chr7:116188333-Alternative-A;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative A aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga ACAACGTCGTCG CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAacaacgtcgtcgAGATCGAGACCCGACGC chr7:116188333-Alternative-A;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative A aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga CAAGTAGCTAGG CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAcaagtagctaggAGATCGAGACCCGACGC chr7:116188333-Alternative-A;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative A aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga AGCATTCAGTGT CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAagcattcagtgtAGATCGAGACCCGACGC chr7:116188333-Alternative-A;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Alternative A aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga AATCTCCGCGAA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgAaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAaatctccgcgaaAGATCGAGACCCGACGC chr7:116188333-Alternative-A;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Variant T aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GATGAATGCCGA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAgatgaatgccgaAGATCGAGACCCGACGC chr7:116188333-Variant-T;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Variant T aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga AGTCTCGCGAAG CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAagtctcgcgaagAGATCGAGACCCGACGC chr7:116188333-Variant-T;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Variant T aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GCAGTGTCGGTT CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAgcagtgtcggttAGATCGAGACCCGACGC chr7:116188333-Variant-T;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Variant T aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga ATTAAGCGTCCA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAattaagcgtccaAGATCGAGACCCGACGC chr7:116188333-Variant-T;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Variant T aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GACGATCCTATA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgTaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAgacgatcctataAGATCGAGACCCGACGC chr7:116188333-Variant-T;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Reference G aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga CGTACGGATTGA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAcgtacggattgaAGATCGAGACCCGACGC chr7:116188333-Reference-G;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Reference G aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga CATCTAGCGTAA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAcatctagcgtaaAGATCGAGACCCGACGC chr7:116188333-Reference-G;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Reference G aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga ACCGACGTATGG CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAaccgacgtatggAGATCGAGACCCGACGC chr7:116188333-Reference-G;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Reference G aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga GGCGATCCTGTT CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAggcgatcctgttAGATCGAGACCCGACGC chr7:116188333-Reference-G;Patient-30 chr7:116188333-GT Inherited Patient-30 intronic CAV1 0.000637 4.95e-05 NA NA NA CAV1 23493 Reference G aaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaaga ACGTACACGCGA CGACGCGGTCTCTCTCTaaatttcttaagtatactaatgtatgggaaccactgacactaaagaaatgGaataaggggaacgtacaatgttacagtaaaccaggaaaagccagaaagaAGAGGGAGACGGACGTCTCAATAAacgtacacgcgaAGATCGAGACCCGACGC chr7:116188333-Reference-G;Patient-30 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative A aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CAGTCCGTGTTC CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAcagtccgtgttcAGATCGAGACCCGACGC chr7:116350825-Alternative-A;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Reference T aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaa ATACCGTGTGGT CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAataccgtgtggtAGATCGAGACCCGACGC chr7:116350825-Reference-T;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Reference T aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaa AGATATGTGGAC CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAagatatgtggacAGATCGAGACCCGACGC chr7:116350825-Reference-T;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Reference T aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaa ATTAAGTCTCGG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAattaagtctcggAGATCGAGACCCGACGC chr7:116350825-Reference-T;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Reference T aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaa AGGAACGGTAGG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAaggaacggtaggAGATCGAGACCCGACGC chr7:116350825-Reference-T;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Reference T aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GGTCGGTATTCG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaTatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAggtcggtattcgAGATCGAGACCCGACGC chr7:116350825-Reference-T;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative A aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GATACTATGCCA CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAgatactatgccaAGATCGAGACCCGACGC chr7:116350825-Alternative-A;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative A aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaa ATCTGTGAGTAC CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAatctgtgagtacAGATCGAGACCCGACGC chr7:116350825-Alternative-A;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Variant G aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaa AGTCATAGCTGA CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAagtcatagctgaAGATCGAGACCCGACGC chr7:116350825-Variant-G;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Variant G aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CTTATGGAGTGT CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAActtatggagtgtAGATCGAGACCCGACGC chr7:116350825-Variant-G;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative A aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GGTTGCATCACG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAggttgcatcacgAGATCGAGACCCGACGC chr7:116350825-Alternative-A;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative A aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CAATGCTCCACG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaAatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAcaatgctccacgAGATCGAGACCCGACGC chr7:116350825-Alternative-A;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Variant G aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GAATGGTTAGCA CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAgaatggttagcaAGATCGAGACCCGACGC chr7:116350825-Variant-G;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Variant G aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaa ACAAGCCGTACG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAacaagccgtacgAGATCGAGACCCGACGC chr7:116350825-Variant-G;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Variant G aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CTTGTCGTCTGG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaGatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAActtgtcgtctggAGATCGAGACCCGACGC chr7:116350825-Variant-G;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative C aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GACGTCCTACAG CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAgacgtcctacagAGATCGAGACCCGACGC chr7:116350825-Alternative-C;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative C aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GCGATGTATCAT CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAgcgatgtatcatAGATCGAGACCCGACGC chr7:116350825-Alternative-C;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative C aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CACGTTCGAACT CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAcacgttcgaactAGATCGAGACCCGACGC chr7:116350825-Alternative-C;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative C aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaa CTGGCGATAATA CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAActggcgataataAGATCGAGACCCGACGC chr7:116350825-Alternative-C;Patient-78 chr7:116350825-TG Inherited Patient-78 intronic MET 0.000191 9.9e-05 0.22 6.07 -0.99 MET 38365 Alternative C aattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaa GCGTTACCTGCT CGACGCGGTCTCTCTCTaattattgtgagatctagggtaaccatggtgttaactatatgctatttgaCatcttataaccctggtgataagataacaatccaattgaatgcagatgaaAGAGGGAGACGGACGTCTCAATAAgcgttacctgctAGATCGAGACCCGACGC chr7:116350825-Alternative-C;Patient-78 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Variant G ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GTGCGAATTGCG CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgtgcgaattgcgAGATCGAGACCCGACGC chr7:116410415-Variant-G;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Variant G ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GATAGAGCGTAA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgatagagcgtaaAGATCGAGACCCGACGC chr7:116410415-Variant-G;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Variant G ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag ATTACGTAGTCG CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAattacgtagtcgAGATCGAGACCCGACGC chr7:116410415-Variant-G;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative T ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag CAATGGACGATA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAcaatggacgataAGATCGAGACCCGACGC chr7:116410415-Alternative-T;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Variant G ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag AGATTCGGATGA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAagattcggatgaAGATCGAGACCCGACGC chr7:116410415-Variant-G;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Variant G ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag ATTGACACGGAA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcGcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAattgacacggaaAGATCGAGACCCGACGC chr7:116410415-Variant-G;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative T ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GTCATACTCAGT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgtcatactcagtAGATCGAGACCCGACGC chr7:116410415-Alternative-T;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative T ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag CTATACATGCCT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAActatacatgcctAGATCGAGACCCGACGC chr7:116410415-Alternative-T;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Reference A ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GCCAATATCCGT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgccaatatccgtAGATCGAGACCCGACGC chr7:116410415-Reference-A;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Reference A ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag AGCGTTAGCGTC CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAagcgttagcgtcAGATCGAGACCCGACGC chr7:116410415-Reference-A;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative T ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag CTGGCGATCTGT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAActggcgatctgtAGATCGAGACCCGACGC chr7:116410415-Alternative-T;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Reference A ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag CATGAGAGCTAA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAcatgagagctaaAGATCGAGACCCGACGC chr7:116410415-Reference-A;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative T ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag CTGAACCTCCGT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcTcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAActgaacctccgtAGATCGAGACCCGACGC chr7:116410415-Alternative-T;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative C ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag AACGCTGAATCG CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAaacgctgaatcgAGATCGAGACCCGACGC chr7:116410415-Alternative-C;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Reference A ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GTCGACACGATA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgtcgacacgataAGATCGAGACCCGACGC chr7:116410415-Reference-A;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative C ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag AGTCAGTAGGAT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAagtcagtaggatAGATCGAGACCCGACGC chr7:116410415-Alternative-C;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Reference A ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag ACTCCGTAGACT CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcAcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAactccgtagactAGATCGAGACCCGACGC chr7:116410415-Reference-A;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative C ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GATGGAACTAAC CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgatggaactaacAGATCGAGACCCGACGC chr7:116410415-Alternative-C;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative C ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GCGGCTAACAAC CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAgcggctaacaacAGATCGAGACCCGACGC chr7:116410415-Alternative-C;Patient-81 chr7:116410415-AG DeNovo Patient-81 intronic MET 3.2e-05 9.9e-05 0.35 7.78 3.38 CAPZA2 92147 Alternative C ctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgag GGCTCTAGTCAA CGACGCGGTCTCTCTCTctttattgtgatgtaattcacataccatgcaattcacccattgaaagtgcCcagttcaatgggtttcagtatattatattgtcaatttctttgaattgagAGAGGGAGACGGACGTCTCAATAAggctctagtcaaAGATCGAGACCCGACGC chr7:116410415-Alternative-C;Patient-81 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative C acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GGCTGAACGCTT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAggctgaacgcttAGATCGAGACCCGACGC chr7:116550964-Alternative-C;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative C acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc ATCGGTAATCGT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAatcggtaatcgtAGATCGAGACCCGACGC chr7:116550964-Alternative-C;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative C acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GTAGATTACCGT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgtagattaccgtAGATCGAGACCCGACGC chr7:116550964-Alternative-C;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative A acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GGTCTGTCTTCG CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAggtctgtcttcgAGATCGAGACCCGACGC chr7:116550964-Alternative-A;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative A acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc ATATTAGGCCGA CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAatattaggccgaAGATCGAGACCCGACGC chr7:116550964-Alternative-A;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative A acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc CGTCTGAGCATC CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAcgtctgagcatcAGATCGAGACCCGACGC chr7:116550964-Alternative-A;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative A acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GACGCATTAGCT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgacgcattagctAGATCGAGACCCGACGC chr7:116550964-Alternative-A;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative A acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GTCGAGTTGCAC CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttAaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgtcgagttgcacAGATCGAGACCCGACGC chr7:116550964-Alternative-A;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Variant T acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc CTCACAACGCCA CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAActcacaacgccaAGATCGAGACCCGACGC chr7:116550964-Variant-T;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Variant T acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc CAACGTTCGCCA CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAcaacgttcgccaAGATCGAGACCCGACGC chr7:116550964-Variant-T;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Variant T acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GGTGTATCTTCT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAggtgtatcttctAGATCGAGACCCGACGC chr7:116550964-Variant-T;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Variant T acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GTCGCATGATGC CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgtcgcatgatgcAGATCGAGACCCGACGC chr7:116550964-Variant-T;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Variant T acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc AGCATCGTCGCA CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttTaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAagcatcgtcgcaAGATCGAGACCCGACGC chr7:116550964-Variant-T;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Reference G acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GTGACTATCGCG CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgtgactatcgcgAGATCGAGACCCGACGC chr7:116550964-Reference-G;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Reference G acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc CGTCAGTATGAA CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAcgtcagtatgaaAGATCGAGACCCGACGC chr7:116550964-Reference-G;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Reference G acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc CGGATTGAAGAT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAcggattgaagatAGATCGAGACCCGACGC chr7:116550964-Reference-G;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Reference G acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc ATCGGCATATAC CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAatcggcatatacAGATCGAGACCCGACGC chr7:116550964-Reference-G;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Reference G acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc ACAATGCGGTAT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttGaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAacaatgcggtatAGATCGAGACCCGACGC chr7:116550964-Reference-G;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative C acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc GCATGCAGCTGT CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAgcatgcagctgtAGATCGAGACCCGACGC chr7:116550964-Alternative-C;Patient-30 chr7:116550964-GT Inherited Patient-30 intronic CAPZA2 0.000934 0.000148 NA NA NA CAPZA2 48400 Alternative C acgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactc ACACCTAGTCAC CGACGCGGTCTCTCTCTacgtgcctgtagtcccagctactcaggaggctgaggcaggagaatcgcttCaacccgggaggcagaggttgcagtgagccgagattgcgccactgcactcAGAGGGAGACGGACGTCTCAATAAacacctagtcacAGATCGAGACCCGACGC chr7:116550964-Alternative-C;Patient-30 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative G aatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct AGATCAAGTACC CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAagatcaagtaccAGATCGAGACCCGACGC chr7:117190473-Alternative-G;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative G aatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GGTTCCAGCACA CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAggttccagcacaAGATCGAGACCCGACGC chr7:117190473-Alternative-G;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Reference T aatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct ATCACGCCTACG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAatcacgcctacgAGATCGAGACCCGACGC chr7:117190473-Reference-T;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative G aatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CTGTCGGTTAGG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAActgtcggttaggAGATCGAGACCCGACGC chr7:117190473-Alternative-G;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Reference T aatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GGAATTCCGAAC CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAggaattccgaacAGATCGAGACCCGACGC chr7:117190473-Reference-T;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative A aatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GTACCGTCAGAT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAgtaccgtcagatAGATCGAGACCCGACGC chr7:117190473-Alternative-A;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Reference T aatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GATACCATGCTA CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAgataccatgctaAGATCGAGACCCGACGC chr7:117190473-Reference-T;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative G aatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CGGCGATATTCG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAcggcgatattcgAGATCGAGACCCGACGC chr7:117190473-Alternative-G;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative G aatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct AGACCTGGAATA CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttGaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAagacctggaataAGATCGAGACCCGACGC chr7:117190473-Alternative-G;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Reference T aatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct ATTGTGTCGGAT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAattgtgtcggatAGATCGAGACCCGACGC chr7:117190473-Reference-T;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Reference T aatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CGGTCATTCCGA CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttTaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAcggtcattccgaAGATCGAGACCCGACGC chr7:117190473-Reference-T;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative A aatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GGATGTACGTAT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAggatgtacgtatAGATCGAGACCCGACGC chr7:117190473-Alternative-A;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative A aatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CAGCGTTACGAT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAcagcgttacgatAGATCGAGACCCGACGC chr7:117190473-Alternative-A;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative A aatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct AACAGGATACGG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAaacaggatacggAGATCGAGACCCGACGC chr7:117190473-Alternative-A;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Variant C aatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CTGTTAAGACGG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAActgttaagacggAGATCGAGACCCGACGC chr7:117190473-Variant-C;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Alternative A aatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GTACCTTAGCTT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttAaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAgtaccttagcttAGATCGAGACCCGACGC chr7:117190473-Alternative-A;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Variant C aatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct ATACAATGCGTC CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAatacaatgcgtcAGATCGAGACCCGACGC chr7:117190473-Variant-C;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Variant C aatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct AGCAGGTGGTGT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAagcaggtggtgtAGATCGAGACCCGACGC chr7:117190473-Variant-C;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Variant C aatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct CGTTGCGTATAT CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAcgttgcgtatatAGATCGAGACCCGACGC chr7:117190473-Variant-C;Patient-87 chr7:117190473-TC Inherited Patient-87 intronic CFTR NA 4.19e-05 -0.03 2.17 0.4 CFTR 70455 Variant C aatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttct GTCTACGAGTCG CGACGCGGTCTCTCTCTaatttggttgtttctctctccagttgttttcctacatacgaaacagctttCaaaacaaaatagctggaattgtgcattttttcttacaaaaacattttctAGAGGGAGACGGACGTCTCAATAAgtctacgagtcgAGATCGAGACCCGACGC chr7:117190473-Variant-C;Patient-87 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Variant A aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccag GCGATAAGATAC CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAgcgataagatacAGATCGAGACCCGACGC chr7:119905089-Variant-A;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative C aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccag GACCGTTATCAA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAgaccgttatcaaAGATCGAGACCCGACGC chr7:119905089-Alternative-C;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Reference T aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccag CAACCAAGGCGT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAcaaccaaggcgtAGATCGAGACCCGACGC chr7:119905089-Reference-T;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Variant A aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccag AATACCATCGCA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAaataccatcgcaAGATCGAGACCCGACGC chr7:119905089-Variant-A;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Variant A aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccag CAGTACGACGAG CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAcagtacgacgagAGATCGAGACCCGACGC chr7:119905089-Variant-A;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative C aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccag GATGTCTCTGAG CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAgatgtctctgagAGATCGAGACCCGACGC chr7:119905089-Alternative-C;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Variant A aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ACCGGACGAGTT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAaccggacgagttAGATCGAGACCCGACGC chr7:119905089-Variant-A;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative C aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ACTAACTCGTGA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAactaactcgtgaAGATCGAGACCCGACGC chr7:119905089-Alternative-C;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Variant A aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccag CTGTCGTGCTGT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacAtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAActgtcgtgctgtAGATCGAGACCCGACGC chr7:119905089-Variant-A;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Reference T aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccag GCATCCGGTCTA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAgcatccggtctaAGATCGAGACCCGACGC chr7:119905089-Reference-T;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Reference T aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccag AGCTGCGTTCCT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAagctgcgttcctAGATCGAGACCCGACGC chr7:119905089-Reference-T;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Reference T aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ATCAAGTTGTGC CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAatcaagttgtgcAGATCGAGACCCGACGC chr7:119905089-Reference-T;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Reference T aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ACATGAGTACAG CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacTtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAacatgagtacagAGATCGAGACCCGACGC chr7:119905089-Reference-T;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative G aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccag AGCAGCGGCATA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAagcagcggcataAGATCGAGACCCGACGC chr7:119905089-Alternative-G;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative C aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccag CAGTACGCGCAA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAcagtacgcgcaaAGATCGAGACCCGACGC chr7:119905089-Alternative-C;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative C aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ACGAGCGACTTC CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacCtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAacgagcgacttcAGATCGAGACCCGACGC chr7:119905089-Alternative-C;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative G aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccag AGTAGGTCCGCT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAagtaggtccgctAGATCGAGACCCGACGC chr7:119905089-Alternative-G;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative G aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccag CGCCGGTTGTTA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAcgccggttgttaAGATCGAGACCCGACGC chr7:119905089-Alternative-G;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative G aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccag AAGCGCACGAAT CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAaagcgcacgaatAGATCGAGACCCGACGC chr7:119905089-Alternative-G;Patient-24 chr7:119905089-TA DeNovo Patient-24 intergenic NA 0.000513 0.82 12 3.05 KCND2 8632 Alternative G aaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccag ACGACTATGAGA CGACGCGGTCTCTCTCTaaaactcaaatatgttttaagtatttaactagccttagctatgctgtgacGtttatatgtaccccttatcttgctagtatatcagattttgtttccccagAGAGGGAGACGGACGTCTCAATAAacgactatgagaAGATCGAGACCCGACGC chr7:119905089-Alternative-G;Patient-24 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Variant G tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataac AATCGACTCGTT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAaatcgactcgttAGATCGAGACCCGACGC chr7:119967272-Variant-G;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative T tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataac ATCGTACGGCGT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAatcgtacggcgtAGATCGAGACCCGACGC chr7:119967272-Alternative-T;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Variant G tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataac ATCGCACTTAGT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAatcgcacttagtAGATCGAGACCCGACGC chr7:119967272-Variant-G;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Variant G tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataac ATCATCAACCGT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAatcatcaaccgtAGATCGAGACCCGACGC chr7:119967272-Variant-G;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Variant G tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataac CATGTTCCGTGC CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAcatgttccgtgcAGATCGAGACCCGACGC chr7:119967272-Variant-G;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Variant G tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataac ATTCGCCTATGG CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccGtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAattcgcctatggAGATCGAGACCCGACGC chr7:119967272-Variant-G;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative C tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataac GTCAAGTAGGAT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAgtcaagtaggatAGATCGAGACCCGACGC chr7:119967272-Alternative-C;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative C tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataac CTGGTAGTCACT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAActggtagtcactAGATCGAGACCCGACGC chr7:119967272-Alternative-C;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative C tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataac GCGAACTCCGAT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAgcgaactccgatAGATCGAGACCCGACGC chr7:119967272-Alternative-C;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Reference A tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataac GTATCTCACACT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAgtatctcacactAGATCGAGACCCGACGC chr7:119967272-Reference-A;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Reference A tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataac AGACGGTTGCGA CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAagacggttgcgaAGATCGAGACCCGACGC chr7:119967272-Reference-A;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Reference A tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataac AACCGTGTGATT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAaaccgtgtgattAGATCGAGACCCGACGC chr7:119967272-Reference-A;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Reference A tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataac CAGTTGCGGTCT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAcagttgcggtctAGATCGAGACCCGACGC chr7:119967272-Reference-A;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Reference A tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataac CAGTATACGAGA CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccAtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAcagtatacgagaAGATCGAGACCCGACGC chr7:119967272-Reference-A;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative T tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataac CGGCTGTTGGAT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAcggctgttggatAGATCGAGACCCGACGC chr7:119967272-Alternative-T;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative T tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataac CGCGATGTTACG CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAcgcgatgttacgAGATCGAGACCCGACGC chr7:119967272-Alternative-T;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative T tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataac GGATCTACCAGT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAggatctaccagtAGATCGAGACCCGACGC chr7:119967272-Alternative-T;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative T tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataac GACGGACGAGAA CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccTtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAgacggacgagaaAGATCGAGACCCGACGC chr7:119967272-Alternative-T;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative C tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataac CTCTTCGCGGAA CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAActcttcgcggaaAGATCGAGACCCGACGC chr7:119967272-Alternative-C;Patient-30 chr7:119967272-AG Inherited Patient-30 intronic KCND2 0.000765 4.95e-05 NA NA NA KCND2 53549 Alternative C tggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataac GTTGTACCTCAT CGACGCGGTCTCTCTCTtggcaatttacattctagaattaagagtgtgagtttgagtatagttacccCtggtgacctattagcataaaaggtctttagagactgcagatggtataacAGAGGGAGACGGACGTCTCAATAAgttgtacctcatAGATCGAGACCCGACGC chr7:119967272-Alternative-C;Patient-30 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Reference C ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg CTGCGTACGAGT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAActgcgtacgagtAGATCGAGACCCGACGC chr7:121687927-Reference-C;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Variant T ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg CAGCGGTATGCT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAcagcggtatgctAGATCGAGACCCGACGC chr7:121687927-Variant-T;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative A ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg ACACGGTTGTGA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAacacggttgtgaAGATCGAGACCCGACGC chr7:121687927-Alternative-A;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative G ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg CGGCATTGTGGT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAcggcattgtggtAGATCGAGACCCGACGC chr7:121687927-Alternative-G;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative G ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg AAGGAACTCCGC CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAaaggaactccgcAGATCGAGACCCGACGC chr7:121687927-Alternative-G;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative G ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg AGATCGTGCGCT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAagatcgtgcgctAGATCGAGACCCGACGC chr7:121687927-Alternative-G;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Variant T ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg ATTGTTCTCCGA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAattgttctccgaAGATCGAGACCCGACGC chr7:121687927-Variant-T;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Variant T ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GGCGGTGGTATA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAggcggtggtataAGATCGAGACCCGACGC chr7:121687927-Variant-T;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative G ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg AGCTCGGCGATA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAagctcggcgataAGATCGAGACCCGACGC chr7:121687927-Alternative-G;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative G ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg ATTCCGAAGCTA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttGgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAattccgaagctaAGATCGAGACCCGACGC chr7:121687927-Alternative-G;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Variant T ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GTAGTGGACGCA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAgtagtggacgcaAGATCGAGACCCGACGC chr7:121687927-Variant-T;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative A ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg CTCGTGGAGGTT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAActcgtggaggttAGATCGAGACCCGACGC chr7:121687927-Alternative-A;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Reference C ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GTCCGGATTAAT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAgtccggattaatAGATCGAGACCCGACGC chr7:121687927-Reference-C;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Reference C ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GCGCCAACCTAT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAgcgccaacctatAGATCGAGACCCGACGC chr7:121687927-Reference-C;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Reference C ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GTGAATCGTGAT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAgtgaatcgtgatAGATCGAGACCCGACGC chr7:121687927-Reference-C;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Variant T ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg AGGAGATACACG CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttTgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAaggagatacacgAGATCGAGACCCGACGC chr7:121687927-Variant-T;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Reference C ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg AATCGGATAAGG CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttCgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAaatcggataaggAGATCGAGACCCGACGC chr7:121687927-Reference-C;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative A ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg ACGTACTTACGA CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAacgtacttacgaAGATCGAGACCCGACGC chr7:121687927-Alternative-A;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative A ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg CGATAACGGTCC CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAcgataacggtccAGATCGAGACCCGACGC chr7:121687927-Alternative-A;Patient-55 chr7:121687927-CT Inherited Patient-55 intronic PTPRZ1 0.000479 0.000148 0 2.67 0.24 AASS 96416 Alternative A ttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctg GGCTGATGACCT CGACGCGGTCTCTCTCTttaaatgttttttgtagagatggggtttcgccatgttgcccagatggtttAgaactcctgagctcaatcgatctgcctgctgtggcctcacaaagtgctgAGAGGGAGACGGACGTCTCAATAAggctgatgacctAGATCGAGACCCGACGC chr7:121687927-Alternative-A;Patient-55 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Reference G gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GGACCATCTACC CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAggaccatctaccAGATCGAGACCCGACGC chr7:121720663-Reference-G;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Reference G gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGTTCTGTGTCG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcgttctgtgtcgAGATCGAGACCCGACGC chr7:121720663-Reference-G;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Reference G gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGTACTATGGAT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcgtactatggatAGATCGAGACCCGACGC chr7:121720663-Reference-G;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Reference G gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GGTCAGCTGAAC CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAggtcagctgaacAGATCGAGACCCGACGC chr7:121720663-Reference-G;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Reference G gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GACCAAGAGAGT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatGtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAgaccaagagagtAGATCGAGACCCGACGC chr7:121720663-Reference-G;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative C gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GCGTTCTCAATT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAgcgttctcaattAGATCGAGACCCGACGC chr7:121720663-Alternative-C;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative C gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GAGGTTCACGCT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAgaggttcacgctAGATCGAGACCCGACGC chr7:121720663-Alternative-C;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative T gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GCCGTACACCTA CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAgccgtacacctaAGATCGAGACCCGACGC chr7:121720663-Alternative-T;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Variant A gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CATTGTCGTGTT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcattgtcgtgttAGATCGAGACCCGACGC chr7:121720663-Variant-A;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative T gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag ACAACGTACACG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAacaacgtacacgAGATCGAGACCCGACGC chr7:121720663-Alternative-T;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative T gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CTCGTATCACCA CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAActcgtatcaccaAGATCGAGACCCGACGC chr7:121720663-Alternative-T;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Variant A gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag ACAGACTATTCG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAacagactattcgAGATCGAGACCCGACGC chr7:121720663-Variant-A;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative T gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GGTTCAAGTTGT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAggttcaagttgtAGATCGAGACCCGACGC chr7:121720663-Alternative-T;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative T gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGTCGGCTGTAA CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatTtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcgtcggctgtaaAGATCGAGACCCGACGC chr7:121720663-Alternative-T;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative C gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag ATTGTAACGTCG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAattgtaacgtcgAGATCGAGACCCGACGC chr7:121720663-Alternative-C;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative C gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag GGTACGCTTATT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAggtacgcttattAGATCGAGACCCGACGC chr7:121720663-Alternative-C;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Variant A gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGTGATGAACCG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcgtgatgaaccgAGATCGAGACCCGACGC chr7:121720663-Variant-A;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Alternative C gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGGCTAGTTCCT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatCtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcggctagttcctAGATCGAGACCCGACGC chr7:121720663-Alternative-C;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Variant A gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag ACTCGCTGAACG CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAactcgctgaacgAGATCGAGACCCGACGC chr7:121720663-Variant-A;Patient-79 chr7:121720663-GA DeNovo Patient-79 intronic AASS 0.000255 0.000148 -0.1 1.43 0.89 AASS 63680 Variant A gtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtag CGAGGACGAATT CGACGCGGTCTCTCTCTgtaaaacttaagattggaaaggttcacaaatgcacacaaaaaaaatgaatAtaaaagcaactggctaacacaaagaaatgatgaatgcttgaggtggtagAGAGGGAGACGGACGTCTCAATAAcgaggacgaattAGATCGAGACCCGACGC chr7:121720663-Variant-A;Patient-79 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative C gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact CGTGACGTTGAC CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAcgtgacgttgacAGATCGAGACCCGACGC chr7:1223345-Alternative-C;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative C gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ATCTTACGCGGC CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAatcttacgcggcAGATCGAGACCCGACGC chr7:1223345-Alternative-C;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Reference G gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ATTGGACGAGCG CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAattggacgagcgAGATCGAGACCCGACGC chr7:1223345-Reference-G;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Reference G gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GCAGAATATACG CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgcagaatatacgAGATCGAGACCCGACGC chr7:1223345-Reference-G;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Reference G gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GGTTAAGGTAGT CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAggttaaggtagtAGATCGAGACCCGACGC chr7:1223345-Reference-G;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative C gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ACGTACTATCAG CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAacgtactatcagAGATCGAGACCCGACGC chr7:1223345-Alternative-C;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Reference G gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact AGTTGGCGATCG CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAagttggcgatcgAGATCGAGACCCGACGC chr7:1223345-Reference-G;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative T gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GTCGTGACGATA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgtcgtgacgataAGATCGAGACCCGACGC chr7:1223345-Alternative-T;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Reference G gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GTCGGAGCGATA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggGatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgtcggagcgataAGATCGAGACCCGACGC chr7:1223345-Reference-G;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative T gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact CAGCTCGAATCA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAcagctcgaatcaAGATCGAGACCCGACGC chr7:1223345-Alternative-T;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative T gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ACGTGTCTTGTT CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAacgtgtcttgttAGATCGAGACCCGACGC chr7:1223345-Alternative-T;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative T gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GCATAACACGAA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgcataacacgaaAGATCGAGACCCGACGC chr7:1223345-Alternative-T;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Variant A gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact CGGAGATTACTT CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAcggagattacttAGATCGAGACCCGACGC chr7:1223345-Variant-A;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative T gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact CGCATACGGACA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggTatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAcgcatacggacaAGATCGAGACCCGACGC chr7:1223345-Alternative-T;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative C gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ATCGTTGGTACA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAatcgttggtacaAGATCGAGACCCGACGC chr7:1223345-Alternative-C;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Variant A gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GCCACCGTAAGA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgccaccgtaagaAGATCGAGACCCGACGC chr7:1223345-Variant-A;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Alternative C gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact GTTGATGCAATC CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggCatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAgttgatgcaatcAGATCGAGACCCGACGC chr7:1223345-Alternative-C;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Variant A gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact ATTACTGACCGA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAattactgaccgaAGATCGAGACCCGACGC chr7:1223345-Variant-A;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Variant A gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact CAACTGCATGGT CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAcaactgcatggtAGATCGAGACCCGACGC chr7:1223345-Variant-A;Patient-30 chr7:1223345-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA GPER1 96901 Variant A gcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggact AAGGACATGGAA CGACGCGGTCTCTCTCTgcaagaggcaggcaagacacctgttccagcagtggacgccgccctggaggAatgagaacctgagtccagctcagctgggcccatgggaggcacaaggactAGAGGGAGACGGACGTCTCAATAAaaggacatggaaAGATCGAGACCCGACGC chr7:1223345-Variant-A;Patient-30 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative C tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AGCTGGACTTCG CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAagctggacttcgAGATCGAGACCCGACGC chr7:124544129-Alternative-C;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Variant G tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattc GCATGATGACTT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAgcatgatgacttAGATCGAGACCCGACGC chr7:124544129-Variant-G;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Variant G tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattc CAACTGGTACGT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAcaactggtacgtAGATCGAGACCCGACGC chr7:124544129-Variant-G;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Variant G tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattc ACTGAGACAACA CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAactgagacaacaAGATCGAGACCCGACGC chr7:124544129-Variant-G;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative C tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AGCTACGATAAC CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAagctacgataacAGATCGAGACCCGACGC chr7:124544129-Alternative-C;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Variant G tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattc GTGTTGATGGAA CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAgtgttgatggaaAGATCGAGACCCGACGC chr7:124544129-Variant-G;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative C tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattc CTGAGCGAGCAA CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAActgagcgagcaaAGATCGAGACCCGACGC chr7:124544129-Alternative-C;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Reference T tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AACACGTGAACA CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAaacacgtgaacaAGATCGAGACCCGACGC chr7:124544129-Reference-T;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Variant G tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AGGTTAACGGAT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatGctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAaggttaacggatAGATCGAGACCCGACGC chr7:124544129-Variant-G;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Reference T tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattc GGCTGATCGGTT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAggctgatcggttAGATCGAGACCCGACGC chr7:124544129-Reference-T;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Reference T tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattc CTAACTGGTAAC CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAActaactggtaacAGATCGAGACCCGACGC chr7:124544129-Reference-T;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative C tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattc CGTCTGACAGGT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAcgtctgacaggtAGATCGAGACCCGACGC chr7:124544129-Alternative-C;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative A tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattc GTGGCGGCAATA CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAgtggcggcaataAGATCGAGACCCGACGC chr7:124544129-Alternative-A;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Reference T tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AATAGCGAATCG CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAaatagcgaatcgAGATCGAGACCCGACGC chr7:124544129-Reference-T;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Reference T tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattc ACTGAATACGCT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatTctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAactgaatacgctAGATCGAGACCCGACGC chr7:124544129-Reference-T;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative A tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattc ACGACAGATCGT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAacgacagatcgtAGATCGAGACCCGACGC chr7:124544129-Alternative-A;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative A tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattc GTGCTCGCACTT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAgtgctcgcacttAGATCGAGACCCGACGC chr7:124544129-Alternative-A;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative A tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattc CTCAATAAGTCG CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAActcaataagtcgAGATCGAGACCCGACGC chr7:124544129-Alternative-A;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative C tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattc AACGTCGCGTCT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatCctaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAaacgtcgcgtctAGATCGAGACCCGACGC chr7:124544129-Alternative-C;Patient-66 chr7:124544129-TG DeNovo Patient-66 intronic POT1 NA 0.00016 0.26 6.66 0 POT1 25907 Alternative A tagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattc AATGACCGTCAT CGACGCGGTCTCTCTCTtagcctaacaaccaaaaaaagtccaggaccagacagatccacagctgaatActaccagaggtacaaagaggagctggtaccattccttctgaaactattcAGAGGGAGACGGACGTCTCAATAAaatgaccgtcatAGATCGAGACCCGACGC chr7:124544129-Alternative-A;Patient-66 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Reference C gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagta CAGTCGCACTAA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAcagtcgcactaaAGATCGAGACCCGACGC chr7:127265979-Reference-C;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Reference C gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagta GACGATTCCTGT CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgacgattcctgtAGATCGAGACCCGACGC chr7:127265979-Reference-C;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Reference C gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagta GATGCGCTGTTC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgatgcgctgttcAGATCGAGACCCGACGC chr7:127265979-Reference-C;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Variant A gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagta GGATAATTGGAC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAggataattggacAGATCGAGACCCGACGC chr7:127265979-Variant-A;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Variant A gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagta ACAACATAAGCG CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAacaacataagcgAGATCGAGACCCGACGC chr7:127265979-Variant-A;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Variant A gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagta GTCATACGTAGA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgtcatacgtagaAGATCGAGACCCGACGC chr7:127265979-Variant-A;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Reference C gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagta AGCCTTGACGAC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAagccttgacgacAGATCGAGACCCGACGC chr7:127265979-Reference-C;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Reference C gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagta GTATACGGTTCA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaCtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgtatacggttcaAGATCGAGACCCGACGC chr7:127265979-Reference-C;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Variant A gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagta CGTCTAATTGTC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAcgtctaattgtcAGATCGAGACCCGACGC chr7:127265979-Variant-A;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative G gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagta GCACGCGTGATA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgcacgcgtgataAGATCGAGACCCGACGC chr7:127265979-Alternative-G;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative G gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagta GAGTATGGTAGT CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgagtatggtagtAGATCGAGACCCGACGC chr7:127265979-Alternative-G;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative T gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagta AGAACGTAGTAC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAagaacgtagtacAGATCGAGACCCGACGC chr7:127265979-Alternative-T;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative G gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagta GGTTGTGAAGAT CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAggttgtgaagatAGATCGAGACCCGACGC chr7:127265979-Alternative-G;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative G gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagta CGCGAAGACGTT CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAcgcgaagacgttAGATCGAGACCCGACGC chr7:127265979-Alternative-G;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative T gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagta AAGCGCACTCAT CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAaagcgcactcatAGATCGAGACCCGACGC chr7:127265979-Alternative-T;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Variant A gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagta AATCGCGCTCGA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaAtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAaatcgcgctcgaAGATCGAGACCCGACGC chr7:127265979-Variant-A;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative T gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagta ATTCGACACGAG CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAattcgacacgagAGATCGAGACCCGACGC chr7:127265979-Alternative-T;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative G gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagta CAGAGATGTAGA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaGtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAcagagatgtagaAGATCGAGACCCGACGC chr7:127265979-Alternative-G;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative T gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagta GTACCTGACATA CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAAgtacctgacataAGATCGAGACCCGACGC chr7:127265979-Alternative-T;Patient-54 chr7:127265979-CA Inherited Patient-54 intergenic 0.000703 0.00154 0.04 3.21 0.15 PAX4 10198 Alternative T gatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagta CTGTTATACCAC CGACGCGGTCTCTCTCTgatcttcctgcatcaacctcccaaagtgttgagattacaggcctaagccaTtacaccctgcttataatgcactttaatataatagctggaagagctagtaAGAGGGAGACGGACGTCTCAATAActgttataccacAGATCGAGACCCGACGC chr7:127265979-Alternative-T;Patient-54 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Reference G actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CTAGTATCCGGC CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAActagtatccggcAGATCGAGACCCGACGC chr7:127385631-Reference-G;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Reference G actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga AGGTACACCGAA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAaggtacaccgaaAGATCGAGACCCGACGC chr7:127385631-Reference-G;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Reference G actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga AACGCAGCAGCA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAaacgcagcagcaAGATCGAGACCCGACGC chr7:127385631-Reference-G;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Reference G actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga ACTAGTCTACGA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAactagtctacgaAGATCGAGACCCGACGC chr7:127385631-Reference-G;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative A actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga ACGACGAACTAA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAacgacgaactaaAGATCGAGACCCGACGC chr7:127385631-Alternative-A;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Variant T actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga GTTGTTCGGTGG CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAgttgttcggtggAGATCGAGACCCGACGC chr7:127385631-Variant-T;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative A actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga GTGTACGACAGG CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAgtgtacgacaggAGATCGAGACCCGACGC chr7:127385631-Alternative-A;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Variant T actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga ACGGCTTAGTCG CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAacggcttagtcgAGATCGAGACCCGACGC chr7:127385631-Variant-T;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative A actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CACGCTAGGATT CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAcacgctaggattAGATCGAGACCCGACGC chr7:127385631-Alternative-A;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Variant T actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CGCGAGATTCAA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAcgcgagattcaaAGATCGAGACCCGACGC chr7:127385631-Variant-T;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative A actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga GTATCGCCGTCT CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAgtatcgccgtctAGATCGAGACCCGACGC chr7:127385631-Alternative-A;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative A actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga ACCTGTCGTGCT CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatAccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAacctgtcgtgctAGATCGAGACCCGACGC chr7:127385631-Alternative-A;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Variant T actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga GAGGTAAGCGCT CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAgaggtaagcgctAGATCGAGACCCGACGC chr7:127385631-Variant-T;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Reference G actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CGCATGCAATCA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatGccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAcgcatgcaatcaAGATCGAGACCCGACGC chr7:127385631-Reference-G;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative C actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga ACAACATCCAAC CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAacaacatccaacAGATCGAGACCCGACGC chr7:127385631-Alternative-C;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Variant T actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CGAACGGATGCA CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatTccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAcgaacggatgcaAGATCGAGACCCGACGC chr7:127385631-Variant-T;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative C actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga GGCCGTAATAGG CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAggccgtaataggAGATCGAGACCCGACGC chr7:127385631-Alternative-C;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative C actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga AGAGTAGGAGCG CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAagagtaggagcgAGATCGAGACCCGACGC chr7:127385631-Alternative-C;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative C actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga AAGGCCGTGTAC CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAAaaggccgtgtacAGATCGAGACCCGACGC chr7:127385631-Alternative-C;Patient-101 chr7:127385631-GT DeNovo Patient-101 intronic SND1 NA 4.95e-05 0.22 6.1 2.14 SND1 93428 Alternative C actgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccagggga CTCTAGTACACT CGACGCGGTCTCTCTCTactgcttgggttaccagaatcttccctgattaaaatgcctaccatagcatCccatcagtgactaatgatgatagcgagacaccttgttagcaccaggggaAGAGGGAGACGGACGTCTCAATAActctagtacactAGATCGAGACCCGACGC chr7:127385631-Alternative-C;Patient-101 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Reference C cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GGTTCCGAGTCA CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAggttccgagtcaAGATCGAGACCCGACGC chr7:127800740-Reference-C;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Reference C cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GTAACACGTGGT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgtaacacgtggtAGATCGAGACCCGACGC chr7:127800740-Reference-C;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Variant T cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag CTCTTATACGGT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAActcttatacggtAGATCGAGACCCGACGC chr7:127800740-Variant-T;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Reference C cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GCGAGTATTCTA CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgcgagtattctaAGATCGAGACCCGACGC chr7:127800740-Reference-C;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative A cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag CGGTATGAGTAT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAcggtatgagtatAGATCGAGACCCGACGC chr7:127800740-Alternative-A;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Variant T cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag CGTTCAAGCGAC CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAcgttcaagcgacAGATCGAGACCCGACGC chr7:127800740-Variant-T;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative A cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GTACTAGGCTAT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgtactaggctatAGATCGAGACCCGACGC chr7:127800740-Alternative-A;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Variant T cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GCAGTACACAAC CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgcagtacacaacAGATCGAGACCCGACGC chr7:127800740-Variant-T;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Variant T cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ATCGGAACGTCC CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAatcggaacgtccAGATCGAGACCCGACGC chr7:127800740-Variant-T;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative G cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag CGCGTATCTATA CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAcgcgtatctataAGATCGAGACCCGACGC chr7:127800740-Alternative-G;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Reference C cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag AACGCGACACAT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAaacgcgacacatAGATCGAGACCCGACGC chr7:127800740-Reference-C;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative A cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ACAGGAGTAACT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAacaggagtaactAGATCGAGACCCGACGC chr7:127800740-Alternative-A;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative A cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ACCGCATAACTA CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAaccgcataactaAGATCGAGACCCGACGC chr7:127800740-Alternative-A;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative G cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GCACGATAACGG CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgcacgataacggAGATCGAGACCCGACGC chr7:127800740-Alternative-G;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative G cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GAGAGCCTTACA CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgagagccttacaAGATCGAGACCCGACGC chr7:127800740-Alternative-G;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative A cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag CACGCGGTATGT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaAgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAcacgcggtatgtAGATCGAGACCCGACGC chr7:127800740-Alternative-A;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative G cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag GCGGTGACGAAT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAgcggtgacgaatAGATCGAGACCCGACGC chr7:127800740-Alternative-G;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Reference C cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ATCTCAGCGTCG CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaCgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAatctcagcgtcgAGATCGAGACCCGACGC chr7:127800740-Reference-C;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Alternative G cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ACGTTACGGTAT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaGgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAacgttacggtatAGATCGAGACCCGACGC chr7:127800740-Alternative-G;Patient-55 chr7:127800740-CT DeNovo Patient-55 intergenic 3.2e-05 0.000513 -0.44 0.14 -6.37 LEP 80590 Variant T cctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaag ACCTATGTACGT CGACGCGGTCTCTCTCTcctcaggaactccctacatttgacttgcatccccaccaggccactctaaaTgctcccttgaaagctcccatcatatttccaagtcccacccagggggaagAGAGGGAGACGGACGTCTCAATAAacctatgtacgtAGATCGAGACCCGACGC chr7:127800740-Variant-T;Patient-55 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Reference A taactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CAGCTTCTAACG CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcagcttctaacgAGATCGAGACCCGACGC chr7:129245101-Reference-A;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative G taactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc ATTCACCGACTT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAattcaccgacttAGATCGAGACCCGACGC chr7:129245101-Alternative-G;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative G taactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CGACATACGTCA CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcgacatacgtcaAGATCGAGACCCGACGC chr7:129245101-Alternative-G;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Variant C taactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc ATAAGACCAACG CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAataagaccaacgAGATCGAGACCCGACGC chr7:129245101-Variant-C;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Reference A taactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc GTCGCTTACGTC CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAgtcgcttacgtcAGATCGAGACCCGACGC chr7:129245101-Reference-A;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative T taactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc AACACCGATTCA CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAaacaccgattcaAGATCGAGACCCGACGC chr7:129245101-Alternative-T;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative G taactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CTACGACGATAC CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAActacgacgatacAGATCGAGACCCGACGC chr7:129245101-Alternative-G;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative T taactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CGATGTAACGTT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcgatgtaacgttAGATCGAGACCCGACGC chr7:129245101-Alternative-T;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative G taactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc ATAAGCACGTCC CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAataagcacgtccAGATCGAGACCCGACGC chr7:129245101-Alternative-G;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Reference A taactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc ATAAGGAAGACG CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAataaggaagacgAGATCGAGACCCGACGC chr7:129245101-Reference-A;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Reference A taactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc GACTACTCTGCG CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAgactactctgcgAGATCGAGACCCGACGC chr7:129245101-Reference-A;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Reference A taactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CGATCGTTACTA CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaAaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcgatcgttactaAGATCGAGACCCGACGC chr7:129245101-Reference-A;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Variant C taactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc AATGCGCTGTAA CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAaatgcgctgtaaAGATCGAGACCCGACGC chr7:129245101-Variant-C;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative T taactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CACGCTATGCGT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcacgctatgcgtAGATCGAGACCCGACGC chr7:129245101-Alternative-T;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative T taactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc CGTGGTTGCGTT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAcgtggttgcgttAGATCGAGACCCGACGC chr7:129245101-Alternative-T;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative T taactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc GACAGTTCTAGT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaTaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAgacagttctagtAGATCGAGACCCGACGC chr7:129245101-Alternative-T;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Variant C taactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc AAGACCGATAAC CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAaagaccgataacAGATCGAGACCCGACGC chr7:129245101-Variant-C;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Variant C taactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc GAGTTGCGGCTT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAgagttgcggcttAGATCGAGACCCGACGC chr7:129245101-Variant-C;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Variant C taactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc ATAGTCTGGTCT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaCaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAatagtctggtctAGATCGAGACCCGACGC chr7:129245101-Variant-C;Patient-89 chr7:129245101-AC Inherited Patient-89 intergenic NA 0.000513 0.06 3.51 -1.37 NRF1 6453 Alternative G taactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattc GCCGCACTAACT CGACGCGGTCTCTCTCTtaactttcctctgaaggcctactgatccccacaattagtccagcaagctaGaagtgagtctggcaaggtgcctaagatacatttaaggggttgctcattcAGAGGGAGACGGACGTCTCAATAAgccgcactaactAGATCGAGACCCGACGC chr7:129245101-Alternative-G;Patient-89 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative T tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcat GCGAGCATGTGA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgcgagcatgtgaAGATCGAGACCCGACGC chr7:130470436-Alternative-T;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative T tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcat CTACGTCGACGA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAActacgtcgacgaAGATCGAGACCCGACGC chr7:130470436-Alternative-T;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Variant A tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcat GAGAGTCCGGAA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgagagtccggaaAGATCGAGACCCGACGC chr7:130470436-Variant-A;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative T tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcat GGTCTTATGCTT CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAggtcttatgcttAGATCGAGACCCGACGC chr7:130470436-Alternative-T;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative C tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcat ACGAGAGTAACG CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAacgagagtaacgAGATCGAGACCCGACGC chr7:130470436-Alternative-C;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative T tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcat ATCGTCGTTACA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAatcgtcgttacaAGATCGAGACCCGACGC chr7:130470436-Alternative-T;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Variant A tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcat GATGATGACGGC CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgatgatgacggcAGATCGAGACCCGACGC chr7:130470436-Variant-A;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative C tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcat ACTTGTCCTACA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAacttgtcctacaAGATCGAGACCCGACGC chr7:130470436-Alternative-C;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Variant A tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcat GTGCTACATCCA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgtgctacatccaAGATCGAGACCCGACGC chr7:130470436-Variant-A;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Variant A tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcat AGAGTGTCTGAA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAagagtgtctgaaAGATCGAGACCCGACGC chr7:130470436-Variant-A;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative C tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcat CGACTCTCGGAA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAcgactctcggaaAGATCGAGACCCGACGC chr7:130470436-Alternative-C;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative C tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcat GCCACCGATAAG CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgccaccgataagAGATCGAGACCCGACGC chr7:130470436-Alternative-C;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative C tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcat ACGAACGTGATA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacCtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAacgaacgtgataAGATCGAGACCCGACGC chr7:130470436-Alternative-C;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Alternative T tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcat ATCGAGGCGTCA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacTtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAatcgaggcgtcaAGATCGAGACCCGACGC chr7:130470436-Alternative-T;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Variant A tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcat ACGATCTGGTAC CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacAtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAacgatctggtacAGATCGAGACCCGACGC chr7:130470436-Variant-A;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Reference G tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcat ATCGTCCATAAG CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAatcgtccataagAGATCGAGACCCGACGC chr7:130470436-Reference-G;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Reference G tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcat GCCGTCTGTACT CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgccgtctgtactAGATCGAGACCCGACGC chr7:130470436-Reference-G;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Reference G tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcat GATCCGGTAACA CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAgatccggtaacaAGATCGAGACCCGACGC chr7:130470436-Reference-G;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Reference G tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcat AGCGCATAATGT CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAagcgcataatgtAGATCGAGACCCGACGC chr7:130470436-Reference-G;Patient-55 chr7:130470436-GA Inherited Patient-55 intergenic 0.000892 0.00154 -0.28 0.43 -0.57 KLF14 51547 Reference G tgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcat AGTAACTCGGAC CGACGCGGTCTCTCTCTtgagatgtagaattagattgtttttggggggatgtttcttcatattcgacGtagctatttattgccataaacttctctgatagaactgcttttactgcatAGAGGGAGACGGACGTCTCAATAAagtaactcggacAGATCGAGACCCGACGC chr7:130470436-Reference-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Variant G gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GGATCCATAGCA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAggatccatagcaAGATCGAGACCCGACGC chr7:132844738-Variant-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative T gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GGTTCACGTACG CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAggttcacgtacgAGATCGAGACCCGACGC chr7:132844738-Alternative-T;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Variant G gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagt CAAGCTGATACT CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAcaagctgatactAGATCGAGACCCGACGC chr7:132844738-Variant-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative T gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagt CAACGGCCTGAA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAcaacggcctgaaAGATCGAGACCCGACGC chr7:132844738-Alternative-T;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Variant G gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagt AGATGCGGCTGA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAagatgcggctgaAGATCGAGACCCGACGC chr7:132844738-Variant-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Variant G gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagt AGTCATGGAGCG CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAagtcatggagcgAGATCGAGACCCGACGC chr7:132844738-Variant-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Variant G gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagt CGAACATGCGTC CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccGgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAcgaacatgcgtcAGATCGAGACCCGACGC chr7:132844738-Variant-G;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative T gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GACAACGTAGAT CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgacaacgtagatAGATCGAGACCCGACGC chr7:132844738-Alternative-T;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative T gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GTCGCGCTTAAG CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgtcgcgcttaagAGATCGAGACCCGACGC chr7:132844738-Alternative-T;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative T gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GTTCAAGTGTAC CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccTgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgttcaagtgtacAGATCGAGACCCGACGC chr7:132844738-Alternative-T;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Reference A gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagt CTATGAACGGAA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAActatgaacggaaAGATCGAGACCCGACGC chr7:132844738-Reference-A;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Reference A gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GCGATGCGGTAT CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgcgatgcggtatAGATCGAGACCCGACGC chr7:132844738-Reference-A;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Reference A gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GTTAACGACACT CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgttaacgacactAGATCGAGACCCGACGC chr7:132844738-Reference-A;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Reference A gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GGACATTAGCAA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAggacattagcaaAGATCGAGACCCGACGC chr7:132844738-Reference-A;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Reference A gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GCGTTATGACCG CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccAgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgcgttatgaccgAGATCGAGACCCGACGC chr7:132844738-Reference-A;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative C gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GAATGTCGGCCA CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgaatgtcggccaAGATCGAGACCCGACGC chr7:132844738-Alternative-C;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative C gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GACGCAACCTGT CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAgacgcaacctgtAGATCGAGACCCGACGC chr7:132844738-Alternative-C;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative C gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagt GGATACTCGAAC CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAggatactcgaacAGATCGAGACCCGACGC chr7:132844738-Alternative-C;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative C gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagt AGTACCGCGTTC CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAagtaccgcgttcAGATCGAGACCCGACGC chr7:132844738-Alternative-C;Patient-55 chr7:132844738-AG Inherited Patient-55 intergenic 0.00035 0.000513 0.14 4.89 1.61 CHCHD3 77904 Alternative C gtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagt ATAACTAACCGG CGACGCGGTCTCTCTCTgtattttatgcttatatgaggtgtttccttggtcatggaatatccattccCgagttctttgttttgatttatctccatgaggaattttgttatcagtagtAGAGGGAGACGGACGTCTCAATAAataactaaccggAGATCGAGACCCGACGC chr7:132844738-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Reference T tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CTGTGCTCGTAC CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAActgtgctcgtacAGATCGAGACCCGACGC chr7:132917341-Reference-T;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Reference T tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag ACTCGTCAGACA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAactcgtcagacaAGATCGAGACCCGACGC chr7:132917341-Reference-T;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Reference T tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CACGTCGTTCAC CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcacgtcgttcacAGATCGAGACCCGACGC chr7:132917341-Reference-T;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Reference T tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag ATCTCGACCAAG CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAatctcgaccaagAGATCGAGACCCGACGC chr7:132917341-Reference-T;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative A tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag AGGAACTCTAGG CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAaggaactctaggAGATCGAGACCCGACGC chr7:132917341-Alternative-A;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Reference T tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag GATCGATTACAC CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaTccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAgatcgattacacAGATCGAGACCCGACGC chr7:132917341-Reference-T;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative A tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag GAGCAGCGCATA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAgagcagcgcataAGATCGAGACCCGACGC chr7:132917341-Alternative-A;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative C tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag ATTCGCACGATA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAattcgcacgataAGATCGAGACCCGACGC chr7:132917341-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative C tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag GCCGTCATACGT CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAgccgtcatacgtAGATCGAGACCCGACGC chr7:132917341-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative A tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CGGATCGCTATC CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcggatcgctatcAGATCGAGACCCGACGC chr7:132917341-Alternative-A;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative C tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag GGTACCGTACCT CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAggtaccgtacctAGATCGAGACCCGACGC chr7:132917341-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Variant G tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag AACCAACGGCCA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAaaccaacggccaAGATCGAGACCCGACGC chr7:132917341-Variant-G;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative A tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CACGTTATGAGT CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcacgttatgagtAGATCGAGACCCGACGC chr7:132917341-Alternative-A;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative C tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CGTCAATAGTCT CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcgtcaatagtctAGATCGAGACCCGACGC chr7:132917341-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative C tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag AAGCAGGTAGAA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaCccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAaagcaggtagaaAGATCGAGACCCGACGC chr7:132917341-Alternative-C;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Alternative A tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CGCATAATCGCG CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaAccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcgcataatcgcgAGATCGAGACCCGACGC chr7:132917341-Alternative-A;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Variant G tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag ATAGTCCGCTAA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAatagtccgctaaAGATCGAGACCCGACGC chr7:132917341-Variant-G;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Variant G tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag CGCGTACGTCTA CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAcgcgtacgtctaAGATCGAGACCCGACGC chr7:132917341-Variant-G;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Variant G tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag ACGTAAGCGACG CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAacgtaagcgacgAGATCGAGACCCGACGC chr7:132917341-Variant-G;Patient-55 chr7:132917341-TG Inherited Patient-55 intergenic 0.000382 0.00102459 -0.01 2.46 0.01 EXOC4 20481 Variant G tgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaag GCATCCAACCTT CGACGCGGTCTCTCTCTtgtggcttttggcatcccctaacaccccctcagaaccctctgcctgcagaGccgtccctttgtgctgagtaggtggcacacattgccctttagtgtgaagAGAGGGAGACGGACGTCTCAATAAgcatccaaccttAGATCGAGACCCGACGC chr7:132917341-Variant-G;Patient-55 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative C caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CGAAGTTGGTGG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcgaagttggtggAGATCGAGACCCGACGC chr7:132949327-Alternative-C;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative C caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatag ATAGTACGAGCA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAatagtacgagcaAGATCGAGACCCGACGC chr7:132949327-Alternative-C;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Reference G caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GATCACCACATC CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgatcaccacatcAGATCGAGACCCGACGC chr7:132949327-Reference-G;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative A caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatag ATTCGAGATTCG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAattcgagattcgAGATCGAGACCCGACGC chr7:132949327-Alternative-A;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Variant T caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CAGACACATCAT CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcagacacatcatAGATCGAGACCCGACGC chr7:132949327-Variant-T;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Variant T caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GCGTTGGATTCG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgcgttggattcgAGATCGAGACCCGACGC chr7:132949327-Variant-T;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Reference G caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GTCGGACTAATT CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgtcggactaattAGATCGAGACCCGACGC chr7:132949327-Reference-G;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Reference G caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatag ACCGACATGACA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAaccgacatgacaAGATCGAGACCCGACGC chr7:132949327-Reference-G;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Variant T caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CGGAACATTCGG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcggaacattcggAGATCGAGACCCGACGC chr7:132949327-Variant-T;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative C caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GGCTAACTGTCG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAggctaactgtcgAGATCGAGACCCGACGC chr7:132949327-Alternative-C;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Reference G caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GCCGTATGCCTA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgccgtatgcctaAGATCGAGACCCGACGC chr7:132949327-Reference-G;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Reference G caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatag ATTGACACGCTA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatGtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAattgacacgctaAGATCGAGACCCGACGC chr7:132949327-Reference-G;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Variant T caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GACGATTCAAGA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgacgattcaagaAGATCGAGACCCGACGC chr7:132949327-Variant-T;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Variant T caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CGATCATAGCGT CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatTtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcgatcatagcgtAGATCGAGACCCGACGC chr7:132949327-Variant-T;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative A caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatag AACTTCGCGATA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAaacttcgcgataAGATCGAGACCCGACGC chr7:132949327-Alternative-A;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative A caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CGAACCGAACAG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcgaaccgaacagAGATCGAGACCCGACGC chr7:132949327-Alternative-A;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative C caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GATTACTCCGAA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgattactccgaaAGATCGAGACCCGACGC chr7:132949327-Alternative-C;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative C caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CATTCGATATGG CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatCtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcattcgatatggAGATCGAGACCCGACGC chr7:132949327-Alternative-C;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative A caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatag CAAGACGATCAA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAcaagacgatcaaAGATCGAGACCCGACGC chr7:132949327-Alternative-A;Patient-82 chr7:132949327-GT DeNovo Patient-82 intronic EXOC4 NA 4.95e-05 2.01 19.28 4.18 EXOC4 11503 Alternative A caatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatag GCACGCTACGAA CGACGCGGTCTCTCTCTcaatcacaatgtataattgaatataataaaatgcgatttaaaagtgtaatAtagatttggttatgctttgagggaagccgtatcttatgtgattatatagAGAGGGAGACGGACGTCTCAATAAgcacgctacgaaAGATCGAGACCCGACGC chr7:132949327-Alternative-A;Patient-82 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative G tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt AGTCAGTGCCGA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAagtcagtgccgaAGATCGAGACCCGACGC chr7:134423437-Alternative-G;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative G tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GAGCAGCTAGCA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgagcagctagcaAGATCGAGACCCGACGC chr7:134423437-Alternative-G;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative G tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CTGTTCGCGGAT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAActgttcgcggatAGATCGAGACCCGACGC chr7:134423437-Alternative-G;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative G tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GCAGCTGTTCGA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgcagctgttcgaAGATCGAGACCCGACGC chr7:134423437-Alternative-G;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative G tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt ACCAAGCCTGAG CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatGgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAaccaagcctgagAGATCGAGACCCGACGC chr7:134423437-Alternative-G;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Variant T tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GGTTGTCTGACG CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAggttgtctgacgAGATCGAGACCCGACGC chr7:134423437-Variant-T;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Variant T tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CTATGGTATGGT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAActatggtatggtAGATCGAGACCCGACGC chr7:134423437-Variant-T;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Variant T tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GTAGTAGGTGCG CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgtagtaggtgcgAGATCGAGACCCGACGC chr7:134423437-Variant-T;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Variant T tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt ACGCGAGTCTGA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAacgcgagtctgaAGATCGAGACCCGACGC chr7:134423437-Variant-T;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative A tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CTCTGAGAGCGA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAActctgagagcgaAGATCGAGACCCGACGC chr7:134423437-Alternative-A;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Reference C tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CTGCGGCAAGAA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAActgcggcaagaaAGATCGAGACCCGACGC chr7:134423437-Reference-C;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Reference C tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt AATGGTGACGTT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAaatggtgacgttAGATCGAGACCCGACGC chr7:134423437-Reference-C;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Variant T tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CAAGCAACCTTC CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatTgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAcaagcaaccttcAGATCGAGACCCGACGC chr7:134423437-Variant-T;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative A tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CAACACGCGCAA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAcaacacgcgcaaAGATCGAGACCCGACGC chr7:134423437-Alternative-A;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative A tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GTAATACGAGCA CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgtaatacgagcaAGATCGAGACCCGACGC chr7:134423437-Alternative-A;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Reference C tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GCCAACCGAACT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgccaaccgaactAGATCGAGACCCGACGC chr7:134423437-Reference-C;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Reference C tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GACTACCGGCAT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgactaccggcatAGATCGAGACCCGACGC chr7:134423437-Reference-C;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative A tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt CATCGGCAACGT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAcatcggcaacgtAGATCGAGACCCGACGC chr7:134423437-Alternative-A;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Reference C tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt GCGCTGACGTAT CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatCgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAgcgctgacgtatAGATCGAGACCCGACGC chr7:134423437-Reference-C;Patient-92 chr7:134423437-CT Inherited Patient-92 intergenic 0.000541 0.00308 -0.24 0.57 -1 BPGM 91905 Alternative A tgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgt AGACTGAATCGC CGACGCGGTCTCTCTCTtgtctggtatataaaactgtcagatggatcctcaactataggaccagcatAgcggcatgtcaagataattttaatcttgattctgtcaactctgttatgtAGAGGGAGACGGACGTCTCAATAAagactgaatcgcAGATCGAGACCCGACGC chr7:134423437-Alternative-A;Patient-92 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative C catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GAGGTTGTCTAT CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgaggttgtctatAGATCGAGACCCGACGC chr7:134934165-Alternative-C;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative C catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GTTGAGTCTCGG CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgttgagtctcggAGATCGAGACCCGACGC chr7:134934165-Alternative-C;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative T catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt AATAGTTCGCAC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAaatagttcgcacAGATCGAGACCCGACGC chr7:134934165-Alternative-T;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Reference A catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CGATTGTGTTCT CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcgattgtgttctAGATCGAGACCCGACGC chr7:134934165-Reference-A;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative T catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CGTTGTGACGAC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcgttgtgacgacAGATCGAGACCCGACGC chr7:134934165-Alternative-T;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative T catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CTCGTGAACGGT CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAActcgtgaacggtAGATCGAGACCCGACGC chr7:134934165-Alternative-T;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Reference A catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GGTTGCTTGACG CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAggttgcttgacgAGATCGAGACCCGACGC chr7:134934165-Reference-A;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Variant G catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GTTATGACTGAC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgttatgactgacAGATCGAGACCCGACGC chr7:134934165-Variant-G;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Reference A catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GGCGGACTTAGT CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAggcggacttagtAGATCGAGACCCGACGC chr7:134934165-Reference-A;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Reference A catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GATAGTTCGTAC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgatagttcgtacAGATCGAGACCCGACGC chr7:134934165-Reference-A;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative C catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GCATTGACTAGA CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgcattgactagaAGATCGAGACCCGACGC chr7:134934165-Alternative-C;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Variant G catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GGCTCCATAACG CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAggctccataacgAGATCGAGACCCGACGC chr7:134934165-Variant-G;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Reference A catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CGCACTTAATCA CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccAtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcgcacttaatcaAGATCGAGACCCGACGC chr7:134934165-Reference-A;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative C catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt AGGCGCACAACT CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAaggcgcacaactAGATCGAGACCCGACGC chr7:134934165-Alternative-C;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Variant G catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GACGATCTAAGA CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgacgatctaagaAGATCGAGACCCGACGC chr7:134934165-Variant-G;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative T catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CATAACGGTAAG CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcataacggtaagAGATCGAGACCCGACGC chr7:134934165-Alternative-T;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative C catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CTATTGGCGGCA CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccCtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAActattggcggcaAGATCGAGACCCGACGC chr7:134934165-Alternative-C;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Alternative T catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CAAGACGCTGAC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccTtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcaagacgctgacAGATCGAGACCCGACGC chr7:134934165-Alternative-T;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Variant G catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt CGGATGGTATAA CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAcggatggtataaAGATCGAGACCCGACGC chr7:134934165-Variant-G;Patient-68 chr7:134934165-AG DeNovo Patient-68 intronic STRA8 3.2e-05 9.9e-05 -0.28 0.43 -0.47 STRA8 17433 Variant G catctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgt GTAACTAATCGC CGACGCGGTCTCTCTCTcatctgaggtcaggagttcaagaccagcctggccaaaatggtgaaacaccGtctttactaaaaatacaaaaattagctgggcgtggtggcgagtgcctgtAGAGGGAGACGGACGTCTCAATAAgtaactaatcgcAGATCGAGACCCGACGC chr7:134934165-Variant-G;Patient-68 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Reference C ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaata GCGCGTATCTGT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgcgcgtatctgtAGATCGAGACCCGACGC chr7:138063727-Reference-C;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Reference C ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaata CTCTTCGCGTCA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAActcttcgcgtcaAGATCGAGACCCGACGC chr7:138063727-Reference-C;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Reference C ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaata CTGCGAAGCAGA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAActgcgaagcagaAGATCGAGACCCGACGC chr7:138063727-Reference-C;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Reference C ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaata AGTGAGAACGAA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAagtgagaacgaaAGATCGAGACCCGACGC chr7:138063727-Reference-C;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Reference C ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaata GCAGCTATCATT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgCcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgcagctatcattAGATCGAGACCCGACGC chr7:138063727-Reference-C;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative T ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaata GACCGGTGTTCA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgaccggtgttcaAGATCGAGACCCGACGC chr7:138063727-Alternative-T;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative T ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaata GTAAGAGGTGTT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgtaagaggtgttAGATCGAGACCCGACGC chr7:138063727-Alternative-T;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Variant A ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaata AGTAGCTTGGTT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAagtagcttggttAGATCGAGACCCGACGC chr7:138063727-Variant-A;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Variant A ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaata CGGATATGCCGA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAcggatatgccgaAGATCGAGACCCGACGC chr7:138063727-Variant-A;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Variant A ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaata GCGAGAAGAGCA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgcgagaagagcaAGATCGAGACCCGACGC chr7:138063727-Variant-A;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative T ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaata CGCAAGCTAACC CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAcgcaagctaaccAGATCGAGACCCGACGC chr7:138063727-Alternative-T;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative T ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaata AGGTGTCGTCCA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAaggtgtcgtccaAGATCGAGACCCGACGC chr7:138063727-Alternative-T;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative T ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaata GCGTACGTGTGA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgTcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgcgtacgtgtgaAGATCGAGACCCGACGC chr7:138063727-Alternative-T;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative G ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaata CTGGTTGGATGC CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAActggttggatgcAGATCGAGACCCGACGC chr7:138063727-Alternative-G;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative G ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaata ATAAGCCGCATT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAataagccgcattAGATCGAGACCCGACGC chr7:138063727-Alternative-G;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative G ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaata GCGCGAAGTTCT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgcgcgaagttctAGATCGAGACCCGACGC chr7:138063727-Alternative-G;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative G ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaata CAACTAAGCGAT CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAcaactaagcgatAGATCGAGACCCGACGC chr7:138063727-Alternative-G;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Variant A ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaata ATCTATGGATGC CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAatctatggatgcAGATCGAGACCCGACGC chr7:138063727-Variant-A;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Alternative G ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaata GACGGCTAGTAC CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgGcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAgacggctagtacAGATCGAGACCCGACGC chr7:138063727-Alternative-G;Patient-79 chr7:138063727-CA DeNovo Patient-79 intergenic NA 0.000513 -0.15 0.97 0 TRIM24 81351 Variant A ggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaata AAGCAACGACTA CGACGCGGTCTCTCTCTggcaggggcgccccccacctcccagacgggacggctgccgggcgggggcgAcccccacctcccagacggggtggctgcagatgattctttaattaaaataAGAGGGAGACGGACGTCTCAATAAaagcaacgactaAGATCGAGACCCGACGC chr7:138063727-Variant-A;Patient-79 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative G ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CAGCTAACCAGG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAcagctaaccaggAGATCGAGACCCGACGC chr7:138442907-Alternative-G;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative G ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca GAGATCAACGGC CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAgagatcaacggcAGATCGAGACCCGACGC chr7:138442907-Alternative-G;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative G ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CATCATAGTTCG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAcatcatagttcgAGATCGAGACCCGACGC chr7:138442907-Alternative-G;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative G ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CTGGTAGCAGTC CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAActggtagcagtcAGATCGAGACCCGACGC chr7:138442907-Alternative-G;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative G ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca GGAACATTGGCG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaGgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAggaacattggcgAGATCGAGACCCGACGC chr7:138442907-Alternative-G;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative T ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ATATTAGGACGG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAatattaggacggAGATCGAGACCCGACGC chr7:138442907-Alternative-T;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative T ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca AGCGTCGATTCG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAagcgtcgattcgAGATCGAGACCCGACGC chr7:138442907-Alternative-T;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative T ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CTAGGCTTCGTC CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAActaggcttcgtcAGATCGAGACCCGACGC chr7:138442907-Alternative-T;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative T ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ATTACGATGGAG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAattacgatggagAGATCGAGACCCGACGC chr7:138442907-Alternative-T;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Reference A ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca GCGCCTATGGTT CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAgcgcctatggttAGATCGAGACCCGACGC chr7:138442907-Reference-A;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Alternative T ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ATCGACTTGCCG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaTgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAatcgacttgccgAGATCGAGACCCGACGC chr7:138442907-Alternative-T;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Reference A ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ATCGTACCGCGA CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAatcgtaccgcgaAGATCGAGACCCGACGC chr7:138442907-Reference-A;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Reference A ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ACTCTCTGCGAG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAactctctgcgagAGATCGAGACCCGACGC chr7:138442907-Reference-A;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Reference A ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ACGTTCGTCAAG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAacgttcgtcaagAGATCGAGACCCGACGC chr7:138442907-Reference-A;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Reference A ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca GACGTCCTTATT CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaAgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAgacgtccttattAGATCGAGACCCGACGC chr7:138442907-Reference-A;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Variant C ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CGGCTTGGTTCA CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAcggcttggttcaAGATCGAGACCCGACGC chr7:138442907-Variant-C;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Variant C ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca CACGGTGAACAT CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAcacggtgaacatAGATCGAGACCCGACGC chr7:138442907-Variant-C;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Variant C ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca ATCTGTTCGACT CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAatctgttcgactAGATCGAGACCCGACGC chr7:138442907-Variant-C;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Variant C ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca AGCGCACATCAG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAagcgcacatcagAGATCGAGACCCGACGC chr7:138442907-Variant-C;Patient-99 chr7:138442907-AC DeNovo Patient-99 intronic ATP6V0A4 9.6e-05 4.95e-05 0.19 5.72 1.01 ATP6V0A4 40033 Variant C ttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcaca AGCTGGTCATCG CGACGCGGTCTCTCTCTttactttctctcccactatgactgtcatatgtcaaaacaggattataaaaCgtgatgatttaatgtcaaatttaaaaatgatctttacgaaggatgcacaAGAGGGAGACGGACGTCTCAATAAagctggtcatcgAGATCGAGACCCGACGC chr7:138442907-Variant-C;Patient-99 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Reference T agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GACGATCGTTCG CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgacgatcgttcgAGATCGAGACCCGACGC chr7:138479959-Reference-T;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Variant C agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GATTGTCGGATT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgattgtcggattAGATCGAGACCCGACGC chr7:138479959-Variant-C;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative G agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CTCTCAACTAGT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAActctcaactagtAGATCGAGACCCGACGC chr7:138479959-Alternative-G;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative G agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GATGACGCTATA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgatgacgctataAGATCGAGACCCGACGC chr7:138479959-Alternative-G;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative G agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CATTATATCCGG CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcattatatccggAGATCGAGACCCGACGC chr7:138479959-Alternative-G;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Reference T agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct AGCTACGGCTAT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAagctacggctatAGATCGAGACCCGACGC chr7:138479959-Reference-T;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Reference T agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct AGGACTTCTTGA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAaggacttcttgaAGATCGAGACCCGACGC chr7:138479959-Reference-T;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative G agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CACGTGACAATT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcacgtgacaattAGATCGAGACCCGACGC chr7:138479959-Alternative-G;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative A agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GCAACACCGAAC CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgcaacaccgaacAGATCGAGACCCGACGC chr7:138479959-Alternative-A;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Variant C agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CGTGTAGCTATT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcgtgtagctattAGATCGAGACCCGACGC chr7:138479959-Variant-C;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Variant C agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GCAACCACGCTA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgcaaccacgctaAGATCGAGACCCGACGC chr7:138479959-Variant-C;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative G agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CGCTATTACTGA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaGtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcgctattactgaAGATCGAGACCCGACGC chr7:138479959-Alternative-G;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Variant C agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GAGCATAACTGA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgagcataactgaAGATCGAGACCCGACGC chr7:138479959-Variant-C;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative A agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CAGTAGATTCAC CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcagtagattcacAGATCGAGACCCGACGC chr7:138479959-Alternative-A;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Reference T agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct ACCTAACGGCGA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAacctaacggcgaAGATCGAGACCCGACGC chr7:138479959-Reference-T;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Variant C agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct AACGCAACACAC CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaCtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAaacgcaacacacAGATCGAGACCCGACGC chr7:138479959-Variant-C;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative A agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct GTTATGATCGAC CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAgttatgatcgacAGATCGAGACCCGACGC chr7:138479959-Alternative-A;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative A agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct CGAATACGTGAA CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAcgaatacgtgaaAGATCGAGACCCGACGC chr7:138479959-Alternative-A;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Reference T agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct AGCGCTCTAATT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaTtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAagcgctctaattAGATCGAGACCCGACGC chr7:138479959-Reference-T;Patient-14 chr7:138479959-TC DeNovo Patient-14 intronic ATP6V0A4 NA 0.00016 -0.15 0.97 -1.2 ATP6V0A4 2981 Alternative A agtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcct AGCAGCGTAATT CGACGCGGTCTCTCTCTagtgctgggattacaggcctgagccaccgtgcctggcccagcctatactaAtttcgaataacaaagttcttccatctgtagataggagaatgtttgtcctAGAGGGAGACGGACGTCTCAATAAagcagcgtaattAGATCGAGACCCGACGC chr7:138479959-Alternative-A;Patient-14 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative T ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga AACCGCTCGTAC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAaaccgctcgtacAGATCGAGACCCGACGC chr7:138884864-Alternative-T;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative T ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga GGCGATTAATGT CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAggcgattaatgtAGATCGAGACCCGACGC chr7:138884864-Alternative-T;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative T ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga AGCAACGTAACT CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAagcaacgtaactAGATCGAGACCCGACGC chr7:138884864-Alternative-T;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Variant A ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga AAGCGCCGGTTA CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAaagcgccggttaAGATCGAGACCCGACGC chr7:138884864-Variant-A;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative C ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga ACGACCGTTGGT CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAacgaccgttggtAGATCGAGACCCGACGC chr7:138884864-Alternative-C;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative C ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga GTTATGAGTAGG CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAgttatgagtaggAGATCGAGACCCGACGC chr7:138884864-Alternative-C;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative C ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CGTGATCAGGAC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAcgtgatcaggacAGATCGAGACCCGACGC chr7:138884864-Alternative-C;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative C ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CGATCTGCCGAT CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAcgatctgccgatAGATCGAGACCCGACGC chr7:138884864-Alternative-C;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Variant A ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga ACGCTATTGGAC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAacgctattggacAGATCGAGACCCGACGC chr7:138884864-Variant-A;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Variant A ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga ACGCTAATTGTC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAacgctaattgtcAGATCGAGACCCGACGC chr7:138884864-Variant-A;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative C ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CTGCGCTTAACC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcCttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAActgcgcttaaccAGATCGAGACCCGACGC chr7:138884864-Alternative-C;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative T ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga ACGACTACACCA CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAacgactacaccaAGATCGAGACCCGACGC chr7:138884864-Alternative-T;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Variant A ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga GTACAAGGACGA CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAgtacaaggacgaAGATCGAGACCCGACGC chr7:138884864-Variant-A;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Variant A ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga ACAGGCTTGTGC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcAttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAacaggcttgtgcAGATCGAGACCCGACGC chr7:138884864-Variant-A;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Reference G ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CAGATAACAACG CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAcagataacaacgAGATCGAGACCCGACGC chr7:138884864-Reference-G;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Alternative T ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CAGCAACGAATA CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcTttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAcagcaacgaataAGATCGAGACCCGACGC chr7:138884864-Alternative-T;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Reference G ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga GTAACTCACGCG CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAgtaactcacgcgAGATCGAGACCCGACGC chr7:138884864-Reference-G;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Reference G ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga AACCAACACCAC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAaaccaacaccacAGATCGAGACCCGACGC chr7:138884864-Reference-G;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Reference G ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga CGCTATGTATGG CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAcgctatgtatggAGATCGAGACCCGACGC chr7:138884864-Reference-G;Patient-66 chr7:138884864-GA DeNovo Patient-66 intergenic NA 0.000513 -0.61 0.04 0 TTC26 66373 Reference G ctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcgga GATGTTCCTATC CGACGCGGTCTCTCTCTctcaaaaaaaaaaaaaaaagttgtaataagaaatagctcaggccaggcgcGttggctcatgcctgtaatcccagtactttgggagtccgaggtgggcggaAGAGGGAGACGGACGTCTCAATAAgatgttcctatcAGATCGAGACCCGACGC chr7:138884864-Reference-G;Patient-66 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Variant G aagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctgg ACTAACCTACGA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAactaacctacgaAGATCGAGACCCGACGC chr7:139447535-Variant-G;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Reference T aagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctgg ATCGGATTACAC CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAatcggattacacAGATCGAGACCCGACGC chr7:139447535-Reference-T;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative A aagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GGCGATATTCAT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAggcgatattcatAGATCGAGACCCGACGC chr7:139447535-Alternative-A;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative A aagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctgg AGTTCGAGCAGT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAagttcgagcagtAGATCGAGACCCGACGC chr7:139447535-Alternative-A;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Variant G aagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CTTAGTCGTGTT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAActtagtcgtgttAGATCGAGACCCGACGC chr7:139447535-Variant-G;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Variant G aagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctgg AGAACCGAACCG CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAagaaccgaaccgAGATCGAGACCCGACGC chr7:139447535-Variant-G;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative A aagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GCCTTATGCCGA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgccttatgccgaAGATCGAGACCCGACGC chr7:139447535-Alternative-A;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Reference T aagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CGTCCTATCGGT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAcgtcctatcggtAGATCGAGACCCGACGC chr7:139447535-Reference-T;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Variant G aagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GTCAGTGTCGGT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgtcagtgtcggtAGATCGAGACCCGACGC chr7:139447535-Variant-G;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Reference T aagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctgg ATCAAGCTAACG CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAatcaagctaacgAGATCGAGACCCGACGC chr7:139447535-Reference-T;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Reference T aagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GATGGACTTCTA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgatggacttctaAGATCGAGACCCGACGC chr7:139447535-Reference-T;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Variant G aagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CGTGATTCGGCA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataGccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAcgtgattcggcaAGATCGAGACCCGACGC chr7:139447535-Variant-G;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Reference T aagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GACGATGACGCA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataTccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgacgatgacgcaAGATCGAGACCCGACGC chr7:139447535-Reference-T;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative C aagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CGAACTGTGTCG CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAcgaactgtgtcgAGATCGAGACCCGACGC chr7:139447535-Alternative-C;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative C aagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GAGCTCGGACTT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgagctcggacttAGATCGAGACCCGACGC chr7:139447535-Alternative-C;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative C aagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GAGCTCAAGCCA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgagctcaagccaAGATCGAGACCCGACGC chr7:139447535-Alternative-C;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative A aagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GATGACGCACTA CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgatgacgcactaAGATCGAGACCCGACGC chr7:139447535-Alternative-A;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative A aagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CTAGACGTAGCG CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataAccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAActagacgtagcgAGATCGAGACCCGACGC chr7:139447535-Alternative-A;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative C aagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctgg CGTCCTAATACT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAcgtcctaatactAGATCGAGACCCGACGC chr7:139447535-Alternative-C;Patient-25 chr7:139447535-TG Inherited Patient-25 intronic HIPK2 9.6e-05 4.95e-05 -0.12 1.23 -4.69 HIPK2 30041 Alternative C aagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctgg GACGCTCGGATT CGACGCGGTCTCTCTCTaagccagggtgacccatcagccccagccctcctgtggcctccactggataCccaggcacccccggtttttcccttgggtcccatcccaccactattctggAGAGGGAGACGGACGTCTCAATAAgacgctcggattAGATCGAGACCCGACGC chr7:139447535-Alternative-C;Patient-25 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative G tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ATATGCGATAGG CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAatatgcgataggAGATCGAGACCCGACGC chr7:139951135-Alternative-G;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative G tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CTACGAAGAGCA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAActacgaagagcaAGATCGAGACCCGACGC chr7:139951135-Alternative-G;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative G tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagt AGCATCGCTGAC CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAagcatcgctgacAGATCGAGACCCGACGC chr7:139951135-Alternative-G;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative G tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagt AATAGTTGGACG CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAaatagttggacgAGATCGAGACCCGACGC chr7:139951135-Alternative-G;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Reference T tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CTATGACACCTT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAActatgacaccttAGATCGAGACCCGACGC chr7:139951135-Reference-T;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative G tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ACCGTGCGATGT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaGtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAaccgtgcgatgtAGATCGAGACCCGACGC chr7:139951135-Alternative-G;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Reference T tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CAATTAACGCGT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAcaattaacgcgtAGATCGAGACCCGACGC chr7:139951135-Reference-T;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Reference T tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CGCGCTTATTCA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAcgcgcttattcaAGATCGAGACCCGACGC chr7:139951135-Reference-T;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Reference T tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagt GCATACTATGGT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAgcatactatggtAGATCGAGACCCGACGC chr7:139951135-Reference-T;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Reference T tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CTGAGGATTCAC CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaTtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAActgaggattcacAGATCGAGACCCGACGC chr7:139951135-Reference-T;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative A tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ATCGACACCATT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAatcgacaccattAGATCGAGACCCGACGC chr7:139951135-Alternative-A;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative A tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ACCGGATAGCCA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAaccggatagccaAGATCGAGACCCGACGC chr7:139951135-Alternative-A;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative A tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ACCAAGTCAGAA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAaccaagtcagaaAGATCGAGACCCGACGC chr7:139951135-Alternative-A;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Variant C tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagt AGCATAGTTCCA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAagcatagttccaAGATCGAGACCCGACGC chr7:139951135-Variant-C;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative A tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagt CTAGCGTACATT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAActagcgtacattAGATCGAGACCCGACGC chr7:139951135-Alternative-A;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Variant C tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagt GACAACGCGCAT CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAgacaacgcgcatAGATCGAGACCCGACGC chr7:139951135-Variant-C;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Variant C tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagt GTTGTGGATCTA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAgttgtggatctaAGATCGAGACCCGACGC chr7:139951135-Variant-C;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Alternative A tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagt GATTAACTGCGA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaAtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAgattaactgcgaAGATCGAGACCCGACGC chr7:139951135-Alternative-A;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Variant C tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagt AAGTCGGAGTCG CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAaagtcggagtcgAGATCGAGACCCGACGC chr7:139951135-Variant-C;Patient-55 chr7:139951135-TC DeNovo Patient-55 intergenic 0.000638 0.000513 -0.35 0.26 -1.18 KDM7A 74393 Variant C tgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagt ATCCGACCACGA CGACGCGGTCTCTCTCTtgtctgccagtgtctaggagtcaaatatgaggacagcacgggttggtacaCtgactttcatttcatcccccttctttgatactcatcttccaccttcagtAGAGGGAGACGGACGTCTCAATAAatccgaccacgaAGATCGAGACCCGACGC chr7:139951135-Variant-C;Patient-55 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Variant G aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AGACCGCACGAT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAagaccgcacgatAGATCGAGACCCGACGC chr7:140340713-Variant-G;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Reference A aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CGAACTACGACT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAcgaactacgactAGATCGAGACCCGACGC chr7:140340713-Reference-A;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative T aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CGCCTTAGTAAC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAcgccttagtaacAGATCGAGACCCGACGC chr7:140340713-Alternative-T;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Variant G aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GGCAATCAGTAC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAggcaatcagtacAGATCGAGACCCGACGC chr7:140340713-Variant-G;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative T aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AGTGCCGAATCG CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAagtgccgaatcgAGATCGAGACCCGACGC chr7:140340713-Alternative-T;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Reference A aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GTAACCTAACGT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAgtaacctaacgtAGATCGAGACCCGACGC chr7:140340713-Reference-A;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative T aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GGAACGATGTGC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAggaacgatgtgcAGATCGAGACCCGACGC chr7:140340713-Alternative-T;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative T aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AACGGCGCTATA CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAaacggcgctataAGATCGAGACCCGACGC chr7:140340713-Alternative-T;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Reference A aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GGATATGCGACG CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAggatatgcgacgAGATCGAGACCCGACGC chr7:140340713-Reference-A;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Reference A aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AGCGCATTCGAC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAagcgcattcgacAGATCGAGACCCGACGC chr7:140340713-Reference-A;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative T aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AGTCGGCAGCAA CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccTgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAagtcggcagcaaAGATCGAGACCCGACGC chr7:140340713-Alternative-T;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Reference A aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CTACACCTTCGG CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccAgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAActacaccttcggAGATCGAGACCCGACGC chr7:140340713-Reference-A;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative C aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GTAATGCTACCA CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAgtaatgctaccaAGATCGAGACCCGACGC chr7:140340713-Alternative-C;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative C aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GACTACGTCAAT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAgactacgtcaatAGATCGAGACCCGACGC chr7:140340713-Alternative-C;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative C aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GTACACCGTGGT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAgtacaccgtggtAGATCGAGACCCGACGC chr7:140340713-Alternative-C;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Variant G aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact GCAATGGTCGTC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAgcaatggtcgtcAGATCGAGACCCGACGC chr7:140340713-Variant-G;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Variant G aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CATCGATACGCA CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAcatcgatacgcaAGATCGAGACCCGACGC chr7:140340713-Variant-G;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative C aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CACATTATGCGG CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAcacattatgcggAGATCGAGACCCGACGC chr7:140340713-Alternative-C;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Variant G aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact CGACGCGTTAGT CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccGgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAcgacgcgttagtAGATCGAGACCCGACGC chr7:140340713-Variant-G;Patient-6 chr7:140340713-AG DeNovo Patient-6 intergenic 0.000228 0.000513 1.93 18.58 2.68 NDUFB2 55767 Alternative C aatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggact AGCTTCCGTCAC CGACGCGGTCTCTCTCTaatccgcagctggcgggcgcccggccggttgccacggcaacccctctcccCgggcccggccccgcgcggagctgcggtaaacaggaccttctgccggactAGAGGGAGACGGACGTCTCAATAAagcttccgtcacAGATCGAGACCCGACGC chr7:140340713-Alternative-C;Patient-6 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative T ttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CGGATCAACTAT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcggatcaactatAGATCGAGACCCGACGC chr7:14114604-Alternative-T;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative T ttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CGGTGTTCAACC CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcggtgttcaaccAGATCGAGACCCGACGC chr7:14114604-Alternative-T;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative T ttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CAGTTCCACGCT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcagttccacgctAGATCGAGACCCGACGC chr7:14114604-Alternative-T;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative C ttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca ATTCGTCAACGT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAattcgtcaacgtAGATCGAGACCCGACGC chr7:14114604-Alternative-C;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative T ttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CGATATAGGCGC CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcgatataggcgcAGATCGAGACCCGACGC chr7:14114604-Alternative-T;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative C ttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca GATAACGGACCG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAgataacggaccgAGATCGAGACCCGACGC chr7:14114604-Alternative-C;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative C ttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca GTACGGTGCAAG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAgtacggtgcaagAGATCGAGACCCGACGC chr7:14114604-Alternative-C;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Variant A ttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca ACTCGTATCCGG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAactcgtatccggAGATCGAGACCCGACGC chr7:14114604-Variant-A;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Variant A ttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca AGATTGTTACGG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAagattgttacggAGATCGAGACCCGACGC chr7:14114604-Variant-A;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative C ttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CTATCGCTAGTT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAActatcgctagttAGATCGAGACCCGACGC chr7:14114604-Alternative-C;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative C ttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CAACGTGGTAGG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccCaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcaacgtggtaggAGATCGAGACCCGACGC chr7:14114604-Alternative-C;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Variant A ttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CTGTGCGCAGTT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAActgtgcgcagttAGATCGAGACCCGACGC chr7:14114604-Variant-A;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Variant A ttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca ACAGCAACGTAT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAacagcaacgtatAGATCGAGACCCGACGC chr7:14114604-Variant-A;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Variant A ttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca AAGATACGTTCG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccAaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAaagatacgttcgAGATCGAGACCCGACGC chr7:14114604-Variant-A;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Alternative T ttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CATTACGGACTA CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccTaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcattacggactaAGATCGAGACCCGACGC chr7:14114604-Alternative-T;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Reference G ttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CGTGATAAGACA CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAcgtgataagacaAGATCGAGACCCGACGC chr7:14114604-Reference-G;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Reference G ttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca GTCGATGAGATA CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAgtcgatgagataAGATCGAGACCCGACGC chr7:14114604-Reference-G;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Reference G ttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca GTTAGGCTACGG CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAgttaggctacggAGATCGAGACCCGACGC chr7:14114604-Reference-G;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Reference G ttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca GCGCTACGCTAT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAAgcgctacgctatAGATCGAGACCCGACGC chr7:14114604-Reference-G;Patient-45 chr7:14114604-GA Inherited Patient-45 intergenic 0.000383 0.00154 -0.37 0.23 -3.62 ETV1 83553 Reference G ttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgca CTATGCTAGGAT CGACGCGGTCTCTCTCTttttaaaagatagttactggcttattattgggcacctacacagacagcccGaataagtaaattgtttaaggccatattaaagccccagtaaagcattgcaAGAGGGAGACGGACGTCTCAATAActatgctaggatAGATCGAGACCCGACGC chr7:14114604-Reference-G;Patient-45 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative A aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AGATAGTCGGAT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAagatagtcggatAGATCGAGACCCGACGC chr7:141231889-Alternative-A;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Variant C aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc ACGCGAACAGAT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAacgcgaacagatAGATCGAGACCCGACGC chr7:141231889-Variant-C;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative A aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc ACGAATGGTAGG CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAacgaatggtaggAGATCGAGACCCGACGC chr7:141231889-Alternative-A;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative A aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc GGTAGAGGTTCG CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAggtagaggttcgAGATCGAGACCCGACGC chr7:141231889-Alternative-A;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative A aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc GTCGTATGTGCG CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAgtcgtatgtgcgAGATCGAGACCCGACGC chr7:141231889-Alternative-A;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Variant C aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CAAGTTCATCGA CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAcaagttcatcgaAGATCGAGACCCGACGC chr7:141231889-Variant-C;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative A aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AGTTATGGTCGT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttAtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAagttatggtcgtAGATCGAGACCCGACGC chr7:141231889-Alternative-A;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Reference T aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AGCCGACGCATT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAagccgacgcattAGATCGAGACCCGACGC chr7:141231889-Reference-T;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Variant C aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AGGTGCGTCGAA CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAaggtgcgtcgaaAGATCGAGACCCGACGC chr7:141231889-Variant-C;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Variant C aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AAGGACGAGGAC CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAaaggacgaggacAGATCGAGACCCGACGC chr7:141231889-Variant-C;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Reference T aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CAGTCGTCGTCT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAcagtcgtcgtctAGATCGAGACCCGACGC chr7:141231889-Reference-T;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Variant C aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CTCGGAGCACAT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttCtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAActcggagcacatAGATCGAGACCCGACGC chr7:141231889-Variant-C;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Reference T aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CGCTAGCCATAA CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAcgctagccataaAGATCGAGACCCGACGC chr7:141231889-Reference-T;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Reference T aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc AGCGGTATCAGT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAagcggtatcagtAGATCGAGACCCGACGC chr7:141231889-Reference-T;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Reference T aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc GTTACCTGACTT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttTtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAgttacctgacttAGATCGAGACCCGACGC chr7:141231889-Reference-T;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative G aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CGATCTTAGTCA CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAcgatcttagtcaAGATCGAGACCCGACGC chr7:141231889-Alternative-G;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative G aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CTGTCATAGGCG CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAActgtcataggcgAGATCGAGACCCGACGC chr7:141231889-Alternative-G;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative G aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CGGAGTGGTAAG CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAcggagtggtaagAGATCGAGACCCGACGC chr7:141231889-Alternative-G;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative G aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc CTCAATTGACGT CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAActcaattgacgtAGATCGAGACCCGACGC chr7:141231889-Alternative-G;Patient-71 chr7:141231889-TC DeNovo Patient-71 intergenic 0.000657 0.00103 -0.13 1.11 0.15 AGK 19188 Alternative G aatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctc GTCGGATAGATA CGACGCGGTCTCTCTCTaatatgcatttaagtttcctccatgtcttgtcttgtctttttttctttttGtttttttttttgagatggagtctcactctgtcacccaggctgcaacctcAGAGGGAGACGGACGTCTCAATAAgtcggatagataAGATCGAGACCCGACGC chr7:141231889-Alternative-G;Patient-71 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative C gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CTAGCTTACACT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAActagcttacactAGATCGAGACCCGACGC chr7:142731350-Alternative-C;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative C gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GAGGTGTAGTAT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAgaggtgtagtatAGATCGAGACCCGACGC chr7:142731350-Alternative-C;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative C gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CATGCGTACGAG CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAcatgcgtacgagAGATCGAGACCCGACGC chr7:142731350-Alternative-C;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative C gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CTATACGCGATT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAActatacgcgattAGATCGAGACCCGACGC chr7:142731350-Alternative-C;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative C gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GTAAGCACGCTT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtCttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAgtaagcacgcttAGATCGAGACCCGACGC chr7:142731350-Alternative-C;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Variant G gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CGTCGGTAGACT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAcgtcggtagactAGATCGAGACCCGACGC chr7:142731350-Variant-G;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative T gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa ACGCTTCGGATA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAacgcttcggataAGATCGAGACCCGACGC chr7:142731350-Alternative-T;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Variant G gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa ACTGGCAAGATA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAactggcaagataAGATCGAGACCCGACGC chr7:142731350-Variant-G;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Variant G gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CTGCGGTTGGAT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAActgcggttggatAGATCGAGACCCGACGC chr7:142731350-Variant-G;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Reference A gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa AAGGACGTGCTT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAaaggacgtgcttAGATCGAGACCCGACGC chr7:142731350-Reference-A;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Variant G gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa ATACGCCGGACA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAatacgccggacaAGATCGAGACCCGACGC chr7:142731350-Variant-G;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative T gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GGCTTGAGCCAT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAggcttgagccatAGATCGAGACCCGACGC chr7:142731350-Alternative-T;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative T gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GCAACGTGAATA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAgcaacgtgaataAGATCGAGACCCGACGC chr7:142731350-Alternative-T;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative T gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CGCTACGCTAAC CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAcgctacgctaacAGATCGAGACCCGACGC chr7:142731350-Alternative-T;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Reference A gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CGGTACCTTAAC CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAcggtaccttaacAGATCGAGACCCGACGC chr7:142731350-Reference-A;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Reference A gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GGTCGGAATTAA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAggtcggaattaaAGATCGAGACCCGACGC chr7:142731350-Reference-A;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Reference A gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GAGGTGACGTAC CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAgaggtgacgtacAGATCGAGACCCGACGC chr7:142731350-Reference-A;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Reference A gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa GGTGTTCAGCCA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtAttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAggtgttcagccaAGATCGAGACCCGACGC chr7:142731350-Reference-A;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Variant G gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa CGCATTACGGCA CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtGttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAcgcattacggcaAGATCGAGACCCGACGC chr7:142731350-Variant-G;Patient-85 chr7:142731350-AG Inherited Patient-85 intergenic NA 0.000513 -0.03 2.15 0.11 KEL 71846 Alternative T gacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaa AATACGGACGAT CGACGCGGTCTCTCTCTgacacagactggcaaactggataaagagtcgaggcccattggtgtgctgtTttcaggagatccatctcacgtgcaaagacacacatgggctcaaaataaaAGAGGGAGACGGACGTCTCAATAAaatacggacgatAGATCGAGACCCGACGC chr7:142731350-Alternative-T;Patient-85 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Reference C aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GATGCGCTGCAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgatgcgctgcaaAGATCGAGACCCGACGC chr7:144460580-Reference-C;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative A aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ATCGCGGTGTTC CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAatcgcggtgttcAGATCGAGACCCGACGC chr7:144460580-Alternative-A;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative A aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CATCCAATTCCA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAcatccaattccaAGATCGAGACCCGACGC chr7:144460580-Alternative-A;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Reference C aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GCATCCGGTTGT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgcatccggttgtAGATCGAGACCCGACGC chr7:144460580-Reference-C;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Reference C aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GTACAGTAGAGT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgtacagtagagtAGATCGAGACCCGACGC chr7:144460580-Reference-C;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Reference C aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GACTGTCATCAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgactgtcatcaaAGATCGAGACCCGACGC chr7:144460580-Reference-C;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Reference C aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CACGACGAATAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccCgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAcacgacgaataaAGATCGAGACCCGACGC chr7:144460580-Reference-C;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative A aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GATGGCGAACAT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgatggcgaacatAGATCGAGACCCGACGC chr7:144460580-Alternative-A;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative G aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CGGAACCTTCGT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAcggaaccttcgtAGATCGAGACCCGACGC chr7:144460580-Alternative-G;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative A aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ATCGTTCTGAGA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAatcgttctgagaAGATCGAGACCCGACGC chr7:144460580-Alternative-A;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative G aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CTCAAGGTAGAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAActcaaggtagaaAGATCGAGACCCGACGC chr7:144460580-Alternative-G;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative A aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ACGTCCAATGAT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccAgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAacgtccaatgatAGATCGAGACCCGACGC chr7:144460580-Alternative-A;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Variant T aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ACGTCTTGTCTA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAacgtcttgtctaAGATCGAGACCCGACGC chr7:144460580-Variant-T;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Variant T aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GCATGTACTCAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgcatgtactcaaAGATCGAGACCCGACGC chr7:144460580-Variant-T;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative G aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GACGGCAGAGTT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAgacggcagagttAGATCGAGACCCGACGC chr7:144460580-Alternative-G;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Variant T aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CGAACGGATCTA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAcgaacggatctaAGATCGAGACCCGACGC chr7:144460580-Variant-T;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Variant T aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ATCGTATTGCGT CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAatcgtattgcgtAGATCGAGACCCGACGC chr7:144460580-Variant-T;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative G aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa CGTATCATACAG CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAcgtatcatacagAGATCGAGACCCGACGC chr7:144460580-Alternative-G;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Alternative G aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa GGTAGGTTCGTC CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccGgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAggtaggttcgtcAGATCGAGACCCGACGC chr7:144460580-Alternative-G;Patient-87 chr7:144460580-CT Inherited Patient-87 intronic TPK1 NA 4.95e-05 -0.88 0.01 -0.47 TPK1 72565 Variant T aaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaa ACGCGTCATTAA CGACGCGGTCTCTCTCTaaaaccccaaatcaaggtccaaacagggcactcaaatctctcaagtcaccTgcttggccctcttccaggtgtactttgcttcctttcgctcctgctctaaAGAGGGAGACGGACGTCTCAATAAacgcgtcattaaAGATCGAGACCCGACGC chr7:144460580-Variant-T;Patient-87 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Reference G gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttg AGGTGTTCAACT CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAaggtgttcaactAGATCGAGACCCGACGC chr7:145741928-Reference-G;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Reference G gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttg CTCAACATAGCA CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAActcaacatagcaAGATCGAGACCCGACGC chr7:145741928-Reference-G;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Reference G gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttg AGGTAGTCGTCC CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAaggtagtcgtccAGATCGAGACCCGACGC chr7:145741928-Reference-G;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Reference G gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttg CGCGTTGAACGA CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAcgcgttgaacgaAGATCGAGACCCGACGC chr7:145741928-Reference-G;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Reference G gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttg ACCGAATTGCAC CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaGtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAaccgaattgcacAGATCGAGACCCGACGC chr7:145741928-Reference-G;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative T gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GTTACTCTTACG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgttactcttacgAGATCGAGACCCGACGC chr7:145741928-Alternative-T;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative T gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GCCGAATTAGCG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgccgaattagcgAGATCGAGACCCGACGC chr7:145741928-Alternative-T;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative T gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GATCAGTGTAAG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgatcagtgtaagAGATCGAGACCCGACGC chr7:145741928-Alternative-T;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative T gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GAGTTGTTGGCG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgagttgttggcgAGATCGAGACCCGACGC chr7:145741928-Alternative-T;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative T gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttg AATAGGCTTGCT CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaTtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAaataggcttgctAGATCGAGACCCGACGC chr7:145741928-Alternative-T;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative C gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GCAGACGTCAAT CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgcagacgtcaatAGATCGAGACCCGACGC chr7:145741928-Alternative-C;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative C gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GACCAATAACGA CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgaccaataacgaAGATCGAGACCCGACGC chr7:145741928-Alternative-C;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Variant A gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GTAAGAGCAACT CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgtaagagcaactAGATCGAGACCCGACGC chr7:145741928-Variant-A;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Variant A gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttg CATGTCTATCGT CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAcatgtctatcgtAGATCGAGACCCGACGC chr7:145741928-Variant-A;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Variant A gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GTCGTTCCATTA CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgtcgttccattaAGATCGAGACCCGACGC chr7:145741928-Variant-A;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Variant A gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttg ATAGGACGCGAC CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAataggacgcgacAGATCGAGACCCGACGC chr7:145741928-Variant-A;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative C gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttg AAGACCATACAG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAaagaccatacagAGATCGAGACCCGACGC chr7:145741928-Alternative-C;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Variant A gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttg CAGTTATCTCGG CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaAtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAcagttatctcggAGATCGAGACCCGACGC chr7:145741928-Variant-A;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative C gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GGCCGGATTACA CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAggccggattacaAGATCGAGACCCGACGC chr7:145741928-Alternative-C;Patient-108 chr7:145741928-GA DeNovo Patient-108 intergenic NA 3.84e-05 -0.12 1.2 0 CNTNAP2 71524 Alternative C gtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttg GTAGTCCGGAAC CGACGCGGTCTCTCTCTgtatcctcttttatttcattgagcagtggtttttagttctccttgaagaaCtccttcacatcgcttgtaagttggattcctaggtattttattttctttgAGAGGGAGACGGACGTCTCAATAAgtagtccggaacAGATCGAGACCCGACGC chr7:145741928-Alternative-C;Patient-108 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Variant A tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CATAAGGTTCCA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcataaggttccaAGATCGAGACCCGACGC chr7:145748671-Variant-A;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Variant A tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CGACGCGTATGT CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcgacgcgtatgtAGATCGAGACCCGACGC chr7:145748671-Variant-A;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative T tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CATCTGGCTAGG CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcatctggctaggAGATCGAGACCCGACGC chr7:145748671-Alternative-T;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Reference C tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CGCTCGTATTGC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcgctcgtattgcAGATCGAGACCCGACGC chr7:145748671-Reference-C;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative G tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CATAGGCGGTCT CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcataggcggtctAGATCGAGACCCGACGC chr7:145748671-Alternative-G;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Variant A tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GAGAGTATAGTC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgagagtatagtcAGATCGAGACCCGACGC chr7:145748671-Variant-A;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative T tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CTTACTGGCGTC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAActtactggcgtcAGATCGAGACCCGACGC chr7:145748671-Alternative-T;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative T tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt CAGATAGTACGA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAcagatagtacgaAGATCGAGACCCGACGC chr7:145748671-Alternative-T;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Variant A tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt AACCACGTAGCG CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAaaccacgtagcgAGATCGAGACCCGACGC chr7:145748671-Variant-A;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative T tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt ATATTCCGATCG CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAatattccgatcgAGATCGAGACCCGACGC chr7:145748671-Alternative-T;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative T tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt ATACGGCGTAAC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgTtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAatacggcgtaacAGATCGAGACCCGACGC chr7:145748671-Alternative-T;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative G tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt AGTCTCTGGCAA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAagtctctggcaaAGATCGAGACCCGACGC chr7:145748671-Alternative-G;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative G tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GACGTTGTTCAA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgacgttgttcaaAGATCGAGACCCGACGC chr7:145748671-Alternative-G;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative G tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GATTACGCAACC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgattacgcaaccAGATCGAGACCCGACGC chr7:145748671-Alternative-G;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Alternative G tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GTGACTCGGTAC CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgGtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgtgactcggtacAGATCGAGACCCGACGC chr7:145748671-Alternative-G;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Variant A tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GTTCTAGTAGGT CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgAtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgttctagtaggtAGATCGAGACCCGACGC chr7:145748671-Variant-A;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Reference C tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt ATAATCCGTTCG CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAataatccgttcgAGATCGAGACCCGACGC chr7:145748671-Reference-C;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Reference C tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GTACTCCGTAGA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgtactccgtagaAGATCGAGACCCGACGC chr7:145748671-Reference-C;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Reference C tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt GAATAATGCGCT CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAgaataatgcgctAGATCGAGACCCGACGC chr7:145748671-Reference-C;Patient-33 chr7:145748671-CA DeNovo Patient-33 intergenic 3.2e-05 0.000513 NA NA NA CNTNAP2 64781 Reference C tttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggt AATGGTGGTCAA CGACGCGGTCTCTCTCTtttttaccccatttgtccaatttccacatttatttgtgtgtcctttggtgCtcaaattgttttaagagctgttgactctcttcctcataagagagtaggtAGAGGGAGACGGACGTCTCAATAAaatggtggtcaaAGATCGAGACCCGACGC chr7:145748671-Reference-C;Patient-33 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Reference G tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GCGCAACGATCA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAgcgcaacgatcaAGATCGAGACCCGACGC chr7:148417371-Reference-G;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Reference G tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GGTCTGTGCAGT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAggtctgtgcagtAGATCGAGACCCGACGC chr7:148417371-Reference-G;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Reference G tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaata ACCAATAGGAAC CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAaccaataggaacAGATCGAGACCCGACGC chr7:148417371-Reference-G;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Reference G tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CTCACGACACGA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAActcacgacacgaAGATCGAGACCCGACGC chr7:148417371-Reference-G;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Reference G tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GGAACAGCATTC CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggGacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAggaacagcattcAGATCGAGACCCGACGC chr7:148417371-Reference-G;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative T tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CATCAATCGGAT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAcatcaatcggatAGATCGAGACCCGACGC chr7:148417371-Alternative-T;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Variant C tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GCGATTGCTCCT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAgcgattgctcctAGATCGAGACCCGACGC chr7:148417371-Variant-C;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative T tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaata ATCTTGCATCCA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAatcttgcatccaAGATCGAGACCCGACGC chr7:148417371-Alternative-T;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative T tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CGCCAGTTACGA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAcgccagttacgaAGATCGAGACCCGACGC chr7:148417371-Alternative-T;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Variant C tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GCATACTACGCA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAgcatactacgcaAGATCGAGACCCGACGC chr7:148417371-Variant-C;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Variant C tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CTTATATGCGTC CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAActtatatgcgtcAGATCGAGACCCGACGC chr7:148417371-Variant-C;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative T tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaata AAGCGCGCAACA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAaagcgcgcaacaAGATCGAGACCCGACGC chr7:148417371-Alternative-T;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Variant C tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaata AGACCACGATGT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAagaccacgatgtAGATCGAGACCCGACGC chr7:148417371-Variant-C;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative A tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaata GACATCTGATGT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAgacatctgatgtAGATCGAGACCCGACGC chr7:148417371-Alternative-A;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative A tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CTGCTCACGAAG CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAActgctcacgaagAGATCGAGACCCGACGC chr7:148417371-Alternative-A;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative A tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaata AGGTGTCACGAA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAaggtgtcacgaaAGATCGAGACCCGACGC chr7:148417371-Alternative-A;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Variant C tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CTAACAGTACGG CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggCacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAActaacagtacggAGATCGAGACCCGACGC chr7:148417371-Variant-C;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative A tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaata AACGACATCTGG CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAaacgacatctggAGATCGAGACCCGACGC chr7:148417371-Alternative-A;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative A tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaata CTCTTGGTTGAT CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggAacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAActcttggttgatAGATCGAGACCCGACGC chr7:148417371-Alternative-A;Patient-89 chr7:148417371-GC Inherited Patient-89 intronic CUL1 0.000509 0.000479 0.21 5.97 -0.2 CUL1 21437 Alternative T tttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaata ATCTTGTACGCA CGACGCGGTCTCTCTCTtttgtgttttagaaattgtggggcaacaatatggaggatggattggagggTacgaggccagtgaagaccctttagttagtgagccagatgggagttaataAGAGGGAGACGGACGTCTCAATAAatcttgtacgcaAGATCGAGACCCGACGC chr7:148417371-Alternative-T;Patient-89 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative C gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg GTACGTCAAGAA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAgtacgtcaagaaAGATCGAGACCCGACGC chr7:148437450-Alternative-C;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative C gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CTGAGTGAATCA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAActgagtgaatcaAGATCGAGACCCGACGC chr7:148437450-Alternative-C;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative C gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AGCGTTAATGCA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAagcgttaatgcaAGATCGAGACCCGACGC chr7:148437450-Alternative-C;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative C gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CGTTATTACGCT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcgttattacgctAGATCGAGACCCGACGC chr7:148437450-Alternative-C;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Reference A gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg ACCTAGGTGTCG CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAacctaggtgtcgAGATCGAGACCCGACGC chr7:148437450-Reference-A;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative C gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AAGTTGACGTGA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaCtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAaagttgacgtgaAGATCGAGACCCGACGC chr7:148437450-Alternative-C;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Reference A gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg GTTATGATGGAG CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAgttatgatggagAGATCGAGACCCGACGC chr7:148437450-Reference-A;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Reference A gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AACAACACGCAT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAaacaacacgcatAGATCGAGACCCGACGC chr7:148437450-Reference-A;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Reference A gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg ATTCGCGGAGCT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAattcgcggagctAGATCGAGACCCGACGC chr7:148437450-Reference-A;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative T gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CAGTTGAGTTGT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcagttgagttgtAGATCGAGACCCGACGC chr7:148437450-Alternative-T;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Reference A gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AGTGTTACACAC CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaAtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAagtgttacacacAGATCGAGACCCGACGC chr7:148437450-Reference-A;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative T gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CACGATTCGACC CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcacgattcgaccAGATCGAGACCCGACGC chr7:148437450-Alternative-T;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Variant G gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg GAGTTGAGGATT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAgagttgaggattAGATCGAGACCCGACGC chr7:148437450-Variant-G;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Variant G gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CGTTGTTCTCAA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcgttgttctcaaAGATCGAGACCCGACGC chr7:148437450-Variant-G;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative T gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AGAGCACTCTAT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAagagcactctatAGATCGAGACCCGACGC chr7:148437450-Alternative-T;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative T gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AAGTCTAGGCGC CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAaagtctaggcgcAGATCGAGACCCGACGC chr7:148437450-Alternative-T;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Variant G gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CGGAGAACTATA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcggagaactataAGATCGAGACCCGACGC chr7:148437450-Variant-G;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Alternative T gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg AAGTGACGTCCA CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaTtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAaagtgacgtccaAGATCGAGACCCGACGC chr7:148437450-Alternative-T;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Variant G gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CAGATGCAGACG CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcagatgcagacgAGATCGAGACCCGACGC chr7:148437450-Variant-G;Patient-88 chr7:148437450-AG DeNovo Patient-88 intronic CUL1 NA 4.95e-05 0.17 5.45 0.38 CUL1 41516 Variant G gcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtg CATTAGTGGTGT CGACGCGGTCTCTCTCTgcctcccatagagctgggattacaggtgtgagccattgtgcccagccttaGtggctctgagatctaattcacatagcatacaatgcactcatttaaagtgAGAGGGAGACGGACGTCTCAATAAcattagtggtgtAGATCGAGACCCGACGC chr7:148437450-Variant-G;Patient-88 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative A tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CACACAGCTAAT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAcacacagctaatAGATCGAGACCCGACGC chr7:148480008-Alternative-A;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Variant T tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GTCGCATAAGCG CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgtcgcataagcgAGATCGAGACCCGACGC chr7:148480008-Variant-T;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative A tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GTCAATCCGAAC CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgtcaatccgaacAGATCGAGACCCGACGC chr7:148480008-Alternative-A;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative A tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg AGTGCTAGTGAA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAagtgctagtgaaAGATCGAGACCCGACGC chr7:148480008-Alternative-A;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Reference C tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg AATCTTAGCGTC CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAaatcttagcgtcAGATCGAGACCCGACGC chr7:148480008-Reference-C;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Reference C tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GTACAGTAACCT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgtacagtaacctAGATCGAGACCCGACGC chr7:148480008-Reference-C;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Reference C tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CATCCAAGGCAA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAcatccaaggcaaAGATCGAGACCCGACGC chr7:148480008-Reference-C;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Reference C tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CTCTAGTATCCT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAActctagtatcctAGATCGAGACCCGACGC chr7:148480008-Reference-C;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative A tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CTAGGCCTTAGG CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAActaggccttaggAGATCGAGACCCGACGC chr7:148480008-Alternative-A;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Variant T tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg ACTACGTTGTGA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAactacgttgtgaAGATCGAGACCCGACGC chr7:148480008-Variant-T;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative A tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg AATGATGCTCGT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctAcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAaatgatgctcgtAGATCGAGACCCGACGC chr7:148480008-Alternative-A;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Reference C tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CGAGTTGTATGT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctCcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAcgagttgtatgtAGATCGAGACCCGACGC chr7:148480008-Reference-C;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative G tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GAAGATCGGCAG CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgaagatcggcagAGATCGAGACCCGACGC chr7:148480008-Alternative-G;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative G tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GTTCAATCCGGC CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgttcaatccggcAGATCGAGACCCGACGC chr7:148480008-Alternative-G;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative G tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GTATCGTATCGA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAgtatcgtatcgaAGATCGAGACCCGACGC chr7:148480008-Alternative-G;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Variant T tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg ACGTTAAGATCG CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAacgttaagatcgAGATCGAGACCCGACGC chr7:148480008-Variant-T;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative G tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg GGTAACAATGGT CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAggtaacaatggtAGATCGAGACCCGACGC chr7:148480008-Alternative-G;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Variant T tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CTTAGTGGTCGG CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAActtagtggtcggAGATCGAGACCCGACGC chr7:148480008-Variant-T;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Alternative G tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg CAGCGATATCTA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctGcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAcagcgatatctaAGATCGAGACCCGACGC chr7:148480008-Alternative-G;Patient-92 chr7:148480008-CT Inherited Patient-92 intronic CUL1 6.4e-05 4.95e-05 -0.11 1.33 -0.33 CUL1 84074 Variant T tggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtg ATCGGAGTAGAA CGACGCGGTCTCTCTCTtggctgggggtgacccggagctccctcccaccaaccttcccagccgggctTcctcgcagcccggagccaagcctgtgcctgccaccatttcctggcagtgAGAGGGAGACGGACGTCTCAATAAatcggagtagaaAGATCGAGACCCGACGC chr7:148480008-Variant-T;Patient-92 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Reference C actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CACTAGCGAGAT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAcactagcgagatAGATCGAGACCCGACGC chr7:148530936-Reference-C;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative G actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc AATGACCGTGAA CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAaatgaccgtgaaAGATCGAGACCCGACGC chr7:148530936-Alternative-G;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative G actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CAACAGTACCGA CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAcaacagtaccgaAGATCGAGACCCGACGC chr7:148530936-Alternative-G;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative G actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GCAGCATAGATA CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgcagcatagataAGATCGAGACCCGACGC chr7:148530936-Alternative-G;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative G actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GTCATACTGCGG CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgtcatactgcggAGATCGAGACCCGACGC chr7:148530936-Alternative-G;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative G actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GCATAACTCACA CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctGgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgcataactcacaAGATCGAGACCCGACGC chr7:148530936-Alternative-G;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Variant T actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CTAGATCTCGCG CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAActagatctcgcgAGATCGAGACCCGACGC chr7:148530936-Variant-T;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Variant T actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GGCTCTGACTTC CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAggctctgacttcAGATCGAGACCCGACGC chr7:148530936-Variant-T;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Variant T actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GTGATAATGCCG CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgtgataatgccgAGATCGAGACCCGACGC chr7:148530936-Variant-T;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Reference C actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc ACTCAACGTAGT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAactcaacgtagtAGATCGAGACCCGACGC chr7:148530936-Reference-C;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Reference C actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CGATAGAGTCAC CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAcgatagagtcacAGATCGAGACCCGACGC chr7:148530936-Reference-C;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Variant T actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GGTTCAGACCGT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAggttcagaccgtAGATCGAGACCCGACGC chr7:148530936-Variant-T;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Reference C actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GGTTGCTTGCCT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAggttgcttgcctAGATCGAGACCCGACGC chr7:148530936-Reference-C;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative A actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc AGACGTACAGTT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAagacgtacagttAGATCGAGACCCGACGC chr7:148530936-Alternative-A;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Reference C actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc AGTCTAGACGTT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctCgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAagtctagacgttAGATCGAGACCCGACGC chr7:148530936-Reference-C;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Variant T actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GTATAGTGCGAC CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctTgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgtatagtgcgacAGATCGAGACCCGACGC chr7:148530936-Variant-T;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative A actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc GAGATAGGTGAA CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAgagataggtgaaAGATCGAGACCCGACGC chr7:148530936-Alternative-A;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative A actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CGTACTGCGTTC CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAcgtactgcgttcAGATCGAGACCCGACGC chr7:148530936-Alternative-A;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative A actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc CGCGGTTAGTGT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAcgcggttagtgtAGATCGAGACCCGACGC chr7:148530936-Alternative-A;Patient-25 chr7:148530936-CT Inherited Patient-25 intronic EZH2 9.6e-05 0.000198 -0.09 1.49 0.7 EZH2 50504 Alternative A actatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttc AACTAGTCTCCT CGACGCGGTCTCTCTCTactatagaaaagaaaggataagtagcttgcccaaagttgcgcatggttctAgggctagaatgtaaactccaaaagcctgactctggagcccctgctcttcAGAGGGAGACGGACGTCTCAATAAaactagtctcctAGATCGAGACCCGACGC chr7:148530936-Alternative-A;Patient-25 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Reference G aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc ACGGCAAGCTGA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAacggcaagctgaAGATCGAGACCCGACGC chr7:150607940-Reference-G;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative C aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc AGATCGACGTCT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAagatcgacgtctAGATCGAGACCCGACGC chr7:150607940-Alternative-C;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Reference G aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CTTGGATCCATT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAActtggatccattAGATCGAGACCCGACGC chr7:150607940-Reference-G;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Reference G aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CATCTCGATAAG CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAcatctcgataagAGATCGAGACCCGACGC chr7:150607940-Reference-G;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Variant A aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CTAATGTCTGAG CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAActaatgtctgagAGATCGAGACCCGACGC chr7:150607940-Variant-A;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Reference G aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CACGATCCAACA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAcacgatccaacaAGATCGAGACCCGACGC chr7:150607940-Reference-G;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Reference G aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CTAACGTCACGA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaGggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAActaacgtcacgaAGATCGAGACCCGACGC chr7:150607940-Reference-G;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative T aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc GGTATCGTGACA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAggtatcgtgacaAGATCGAGACCCGACGC chr7:150607940-Alternative-T;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Variant A aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc AATGACCGGATA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAaatgaccggataAGATCGAGACCCGACGC chr7:150607940-Variant-A;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Variant A aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc GGCTCAACAAGG CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAggctcaacaaggAGATCGAGACCCGACGC chr7:150607940-Variant-A;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative T aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc GGTTCGCAATCG CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAggttcgcaatcgAGATCGAGACCCGACGC chr7:150607940-Alternative-T;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative T aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc GTTCTAGACGAG CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAgttctagacgagAGATCGAGACCCGACGC chr7:150607940-Alternative-T;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative T aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CTGTGTTCTTCT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAActgtgttcttctAGATCGAGACCCGACGC chr7:150607940-Alternative-T;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative T aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CAACACCGTGTT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaTggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAcaacaccgtgttAGATCGAGACCCGACGC chr7:150607940-Alternative-T;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Variant A aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc ACTCTTATGTGC CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAactcttatgtgcAGATCGAGACCCGACGC chr7:150607940-Variant-A;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative C aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc GTCATTGGCGCA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAgtcattggcgcaAGATCGAGACCCGACGC chr7:150607940-Alternative-C;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Variant A aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc AGATTAGGTGGT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaAggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAagattaggtggtAGATCGAGACCCGACGC chr7:150607940-Variant-A;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative C aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CTCACGTGGTAT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAActcacgtggtatAGATCGAGACCCGACGC chr7:150607940-Alternative-C;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative C aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CGCCGCATATAA CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAcgccgcatataaAGATCGAGACCCGACGC chr7:150607940-Alternative-C;Patient-69 chr7:150607940-GA DeNovo Patient-69 intergenic NA 0.000512821 0.06 3.66 0.56 KCNH2 67461 Alternative C aggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggcc CATTATCGTGCT CGACGCGGTCTCTCTCTaggacagcgtcatggggacacctggagagagagcatttctgcagaaaaaaCggcagaggtgagagaaggctcgccttgtttttggactggcgaggaggccAGAGGGAGACGGACGTCTCAATAAcattatcgtgctAGATCGAGACCCGACGC chr7:150607940-Alternative-C;Patient-69 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative G tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta AGCGGTTCATAT CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAagcggttcatatAGATCGAGACCCGACGC chr7:150647852-Alternative-G;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative G tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta AGGCCAATCCGA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAaggccaatccgaAGATCGAGACCCGACGC chr7:150647852-Alternative-G;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative G tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CGATGCTCTCGT CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcgatgctctcgtAGATCGAGACCCGACGC chr7:150647852-Alternative-G;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Reference C tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CACTAGACTACA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcactagactacaAGATCGAGACCCGACGC chr7:150647852-Reference-C;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Reference C tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta ACTTCGCACCAC CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAacttcgcaccacAGATCGAGACCCGACGC chr7:150647852-Reference-C;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Reference C tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta GTTCCACTATAC CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAgttccactatacAGATCGAGACCCGACGC chr7:150647852-Reference-C;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Reference C tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta ACGAGGACGGAA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAacgaggacggaaAGATCGAGACCCGACGC chr7:150647852-Reference-C;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative A tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta GTGCGGCGATAA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAgtgcggcgataaAGATCGAGACCCGACGC chr7:150647852-Alternative-A;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Variant T tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta ATATGCCACCGG CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAatatgccaccggAGATCGAGACCCGACGC chr7:150647852-Variant-T;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Variant T tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CAACTCAAGTCA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcaactcaagtcaAGATCGAGACCCGACGC chr7:150647852-Variant-T;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative G tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta AGCTGCGTTCGA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAagctgcgttcgaAGATCGAGACCCGACGC chr7:150647852-Alternative-G;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative A tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CGCTATGTCATA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcgctatgtcataAGATCGAGACCCGACGC chr7:150647852-Alternative-A;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative G tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta AGGAGTCCTTAT CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggGttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAaggagtccttatAGATCGAGACCCGACGC chr7:150647852-Alternative-G;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Variant T tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CGGAATCGACAG CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcggaatcgacagAGATCGAGACCCGACGC chr7:150647852-Variant-T;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative A tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CGATTGTTACGA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcgattgttacgaAGATCGAGACCCGACGC chr7:150647852-Alternative-A;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Variant T tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta GGTGTTCGCGAA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAggtgttcgcgaaAGATCGAGACCCGACGC chr7:150647852-Variant-T;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative A tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta CGACCAACGGAT CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAcgaccaacggatAGATCGAGACCCGACGC chr7:150647852-Alternative-A;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Variant T tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta GGATGATGATAC CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggTttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAggatgatgatacAGATCGAGACCCGACGC chr7:150647852-Variant-T;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Alternative A tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta ACTCAACGACGT CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggAttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAactcaacgacgtAGATCGAGACCCGACGC chr7:150647852-Alternative-A;Patient-24 chr7:150647852-CT DeNovo Patient-24 intronic KCNH2 NA 4.95e-05 0.24 6.42 2.17 KCNH2 27549 Reference C tatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtcctta GTATAAGTGGCA CGACGCGGTCTCTCTCTtatacctcccaccccaaaaggggagctctccagggaaggggttccaagggCttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttaAGAGGGAGACGGACGTCTCAATAAgtataagtggcaAGATCGAGACCCGACGC chr7:150647852-Reference-C;Patient-24 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Reference C agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctcc CTTGTTGGCGGT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAActtgttggcggtAGATCGAGACCCGACGC chr7:150686325-Reference-C;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative A agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctcc ATCTCGTCCACA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAatctcgtccacaAGATCGAGACCCGACGC chr7:150686325-Alternative-A;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Reference C agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACGATCGTGTCG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacgatcgtgtcgAGATCGAGACCCGACGC chr7:150686325-Reference-C;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Reference C agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctcc AGCTTACCTGTT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAagcttacctgttAGATCGAGACCCGACGC chr7:150686325-Reference-C;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Reference C agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACACTGTCCTAC CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacactgtcctacAGATCGAGACCCGACGC chr7:150686325-Reference-C;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative A agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctcc GTCGTGATATGT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAgtcgtgatatgtAGATCGAGACCCGACGC chr7:150686325-Alternative-A;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Reference C agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctcc GTGACATGACGG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcCgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAgtgacatgacggAGATCGAGACCCGACGC chr7:150686325-Reference-C;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative A agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctcc CAACGCGGTATA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAcaacgcggtataAGATCGAGACCCGACGC chr7:150686325-Alternative-A;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative T agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctcc ATCATCAAGCGA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAatcatcaagcgaAGATCGAGACCCGACGC chr7:150686325-Alternative-T;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative T agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACGAACGCAAGA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacgaacgcaagaAGATCGAGACCCGACGC chr7:150686325-Alternative-T;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative A agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACCGGCCAAGTT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAaccggccaagttAGATCGAGACCCGACGC chr7:150686325-Alternative-A;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Variant G agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctcc AAGTCAAGATCG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAaagtcaagatcgAGATCGAGACCCGACGC chr7:150686325-Variant-G;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Variant G agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctcc GTTATCAACCGA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAgttatcaaccgaAGATCGAGACCCGACGC chr7:150686325-Variant-G;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Variant G agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACTTCGCGTACG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacttcgcgtacgAGATCGAGACCCGACGC chr7:150686325-Variant-G;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Variant G agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACCGTTCTTGCG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAaccgttcttgcgAGATCGAGACCCGACGC chr7:150686325-Variant-G;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative T agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACCTATACGCAA CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacctatacgcaaAGATCGAGACCCGACGC chr7:150686325-Alternative-T;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative T agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctcc AGCAGCATGTGG CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAagcagcatgtggAGATCGAGACCCGACGC chr7:150686325-Alternative-T;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative A agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctcc AACGGCGAAGCT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcAgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAaacggcgaagctAGATCGAGACCCGACGC chr7:150686325-Alternative-A;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Alternative T agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctcc ATAGCAACGCTT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcTgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAatagcaacgcttAGATCGAGACCCGACGC chr7:150686325-Alternative-T;Patient-87 chr7:150686325-CG Inherited Patient-87 intergenic NA 0.000513 -0.17 0.85 -3.68 NOS3 1818 Variant G agccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctcc ACGATTAGGCTT CGACGCGGTCTCTCTCTagccctgcagagcactctggtctgagagggaaggcaggggcaagatttgcGgcctctttggcattatggagggggcagggggcacagggcacagccctccAGAGGGAGACGGACGTCTCAATAAacgattaggcttAGATCGAGACCCGACGC chr7:150686325-Variant-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Variant T caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AATCGGACAACA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAaatcggacaacaAGATCGAGACCCGACGC chr7:151157730-Variant-T;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Variant T caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AGATACACAGGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAagatacacaggtAGATCGAGACCCGACGC chr7:151157730-Variant-T;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Variant T caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AGCCACTACGCA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAagccactacgcaAGATCGAGACCCGACGC chr7:151157730-Variant-T;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Reference G caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GGCGTAGTGGAA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAggcgtagtggaaAGATCGAGACCCGACGC chr7:151157730-Reference-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Variant T caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AGGTAGTTCTGG CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAaggtagttctggAGATCGAGACCCGACGC chr7:151157730-Variant-T;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Reference G caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AGTAACACAGGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAagtaacacaggtAGATCGAGACCCGACGC chr7:151157730-Reference-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Variant T caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc ACTAATCGGCGC CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggTtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAactaatcggcgcAGATCGAGACCCGACGC chr7:151157730-Variant-T;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Reference G caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AAGCAGCACATA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAaagcagcacataAGATCGAGACCCGACGC chr7:151157730-Reference-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Reference G caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GTTACGTTGTGA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgttacgttgtgaAGATCGAGACCCGACGC chr7:151157730-Reference-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Reference G caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc ATAGCGCACTAA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggGtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAatagcgcactaaAGATCGAGACCCGACGC chr7:151157730-Reference-G;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative A caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GTGAATGCGTGG CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgtgaatgcgtggAGATCGAGACCCGACGC chr7:151157730-Alternative-A;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative A caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GTGCTTATGAGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgtgcttatgagtAGATCGAGACCCGACGC chr7:151157730-Alternative-A;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative A caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc ACTCAAGGTGCG CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAactcaaggtgcgAGATCGAGACCCGACGC chr7:151157730-Alternative-A;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative A caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc CTCGTGGTAGGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAActcgtggtaggtAGATCGAGACCCGACGC chr7:151157730-Alternative-A;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative A caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc ACGCTATCCTGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggAtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAacgctatcctgtAGATCGAGACCCGACGC chr7:151157730-Alternative-A;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative C caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc CTGGTGTAAGAA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAActggtgtaagaaAGATCGAGACCCGACGC chr7:151157730-Alternative-C;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative C caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GCATGACGCTGT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgcatgacgctgtAGATCGAGACCCGACGC chr7:151157730-Alternative-C;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative C caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GTCATAGTGTGA CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgtcatagtgtgaAGATCGAGACCCGACGC chr7:151157730-Alternative-C;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative C caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc GCGCGCTTGATT CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAgcgcgcttgattAGATCGAGACCCGACGC chr7:151157730-Alternative-C;Patient-87 chr7:151157730-GT Inherited Patient-87 intergenic NA 0.000513 0.08 3.87 0.44 RHEB 59279 Alternative C caggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacacc AATAAGGCGGCG CGACGCGGTCTCTCTCTcaggtcagcagcctccctggccaggacacaatctgctgcgctgccacaggCtctggctgggcaggtgtgggactgagctctggggaccaatagtgacaccAGAGGGAGACGGACGTCTCAATAAaataaggcggcgAGATCGAGACCCGACGC chr7:151157730-Alternative-C;Patient-87 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative G ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttca GCCAACCACACT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAgccaaccacactAGATCGAGACCCGACGC chr7:151698262-Alternative-G;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative G ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttca CAGTTCGTCGCT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcagttcgtcgctAGATCGAGACCCGACGC chr7:151698262-Alternative-G;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Variant C ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttca CTAGGTTAGAAG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAActaggttagaagAGATCGAGACCCGACGC chr7:151698262-Variant-C;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Reference T ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttca AAGGCGGTAACA CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAaaggcggtaacaAGATCGAGACCCGACGC chr7:151698262-Reference-T;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Reference T ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttca CATTGAATTCGG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcattgaattcggAGATCGAGACCCGACGC chr7:151698262-Reference-T;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Reference T ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttca GGAACAGTTGAT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAggaacagttgatAGATCGAGACCCGACGC chr7:151698262-Reference-T;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative G ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttca ACGAACCGATGT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAacgaaccgatgtAGATCGAGACCCGACGC chr7:151698262-Alternative-G;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative G ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttca AGGACGTGTGGT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAaggacgtgtggtAGATCGAGACCCGACGC chr7:151698262-Alternative-G;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative A ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttca AGCCAATATTCG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAagccaatattcgAGATCGAGACCCGACGC chr7:151698262-Alternative-A;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Reference T ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttca GTGCCAGTAGCT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAgtgccagtagctAGATCGAGACCCGACGC chr7:151698262-Reference-T;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative G ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttca GTACGGACTCGA CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagGgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAgtacggactcgaAGATCGAGACCCGACGC chr7:151698262-Alternative-G;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Variant C ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttca AGGTGAATGGAT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAaggtgaatggatAGATCGAGACCCGACGC chr7:151698262-Variant-C;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative A ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttca GACCATACGAAG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAgaccatacgaagAGATCGAGACCCGACGC chr7:151698262-Alternative-A;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative A ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttca CGGAAGACCAAG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcggaagaccaagAGATCGAGACCCGACGC chr7:151698262-Alternative-A;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative A ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttca CGCTTCGTTATT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcgcttcgttattAGATCGAGACCCGACGC chr7:151698262-Alternative-A;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Alternative A ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttca CGATACAGGAGA CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagAgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcgatacaggagaAGATCGAGACCCGACGC chr7:151698262-Alternative-A;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Reference T ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttca GACAGTATGTGA CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagTgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAgacagtatgtgaAGATCGAGACCCGACGC chr7:151698262-Reference-T;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Variant C ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttca ACATCACGACAG CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAacatcacgacagAGATCGAGACCCGACGC chr7:151698262-Variant-C;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Variant C ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttca CAGCTACGGTGT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAAcagctacggtgtAGATCGAGACCCGACGC chr7:151698262-Variant-C;Patient-88 chr7:151698262-TC DeNovo Patient-88 intronic GALNTL5 6.5e-05 4.95e-05 -0.07 1.67 0.23 GALNT11 24515 Variant C ggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttca CTGTTAATCGGT CGACGCGGTCTCTCTCTggtcttgaactcctgacctcaggtgatccacccccctcagcctcccaaagCgctgggattacaggcataagccaccgcaccagccattttttttttttcaAGAGGGAGACGGACGTCTCAATAActgttaatcggtAGATCGAGACCCGACGC chr7:151698262-Variant-C;Patient-88 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Reference C tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GGTCGAATTCGC CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAggtcgaattcgcAGATCGAGACCCGACGC chr7:152421270-Reference-C;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Reference C tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GCCGTAGTACAG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgccgtagtacagAGATCGAGACCCGACGC chr7:152421270-Reference-C;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Reference C tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CGTGTTAGAGAA CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAcgtgttagagaaAGATCGAGACCCGACGC chr7:152421270-Reference-C;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Reference C tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GTGCTTAGGCCA CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgtgcttaggccaAGATCGAGACCCGACGC chr7:152421270-Reference-C;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative T tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CGGTGCACATTA CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAcggtgcacattaAGATCGAGACCCGACGC chr7:152421270-Alternative-T;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative A tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CACGATTATCGG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAcacgattatcggAGATCGAGACCCGACGC chr7:152421270-Alternative-A;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative A tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt AATGGAAGTACC CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAaatggaagtaccAGATCGAGACCCGACGC chr7:152421270-Alternative-A;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Variant G tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CGTTCGATGCGA CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAcgttcgatgcgaAGATCGAGACCCGACGC chr7:152421270-Variant-G;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative T tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GGTCGTACAAGG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAggtcgtacaaggAGATCGAGACCCGACGC chr7:152421270-Alternative-T;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Variant G tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt ACGGTGAACGAC CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAacggtgaacgacAGATCGAGACCCGACGC chr7:152421270-Variant-G;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Variant G tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GCATAGGTTCAT CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgcataggttcatAGATCGAGACCCGACGC chr7:152421270-Variant-G;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Variant G tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CAAGCCGCAAGT CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAcaagccgcaagtAGATCGAGACCCGACGC chr7:152421270-Variant-G;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative A tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt ACTATGTGGCCG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAactatgtggccgAGATCGAGACCCGACGC chr7:152421270-Alternative-A;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative T tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt CTAAGGTGGACG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAActaaggtggacgAGATCGAGACCCGACGC chr7:152421270-Alternative-T;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Reference C tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt ACCGTTCTCATA CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaCtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAaccgttctcataAGATCGAGACCCGACGC chr7:152421270-Reference-C;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative A tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GACGTCTTGACG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgacgtcttgacgAGATCGAGACCCGACGC chr7:152421270-Alternative-A;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative T tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt AGAGCCTAACTT CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAagagcctaacttAGATCGAGACCCGACGC chr7:152421270-Alternative-T;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Variant G tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GGTACATATTCG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaGtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAggtacatattcgAGATCGAGACCCGACGC chr7:152421270-Variant-G;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative T tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GAATTGCTGGCG CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaTtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgaattgctggcgAGATCGAGACCCGACGC chr7:152421270-Alternative-T;Patient-92 chr7:152421270-CG Inherited Patient-92 intergenic NA 0.000513 0.01 2.79 0.05 XRCC2 48019 Alternative A tataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaattt GTGCGCTGCAAT CGACGCGGTCTCTCTCTtataaatacctagctcctcatttgtcctttgaaccagtcttcacatcttaAtattttcctcactaatgagttgaataaaatatttgacaagtgttaatttAGAGGGAGACGGACGTCTCAATAAgtgcgctgcaatAGATCGAGACCCGACGC chr7:152421270-Alternative-A;Patient-92 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative A acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GGCTGACATCCA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAggctgacatccaAGATCGAGACCCGACGC chr7:154893442-Alternative-A;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Variant T acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga CAACGGCTAACT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAcaacggctaactAGATCGAGACCCGACGC chr7:154893442-Variant-T;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Variant T acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga ACAACGTGCGCT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAacaacgtgcgctAGATCGAGACCCGACGC chr7:154893442-Variant-T;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Variant T acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GGCTTCGTCGTT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAggcttcgtcgttAGATCGAGACCCGACGC chr7:154893442-Variant-T;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Variant T acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga ATTGCGCCGTGT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAattgcgccgtgtAGATCGAGACCCGACGC chr7:154893442-Variant-T;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Variant T acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GTATACTCTCGA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttTtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgtatactctcgaAGATCGAGACCCGACGC chr7:154893442-Variant-T;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative G acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GAAGATTCGTCA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgaagattcgtcaAGATCGAGACCCGACGC chr7:154893442-Alternative-G;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative G acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GTCAGATACGAT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgtcagatacgatAGATCGAGACCCGACGC chr7:154893442-Alternative-G;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative G acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GTTACAGGTCGC CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgttacaggtcgcAGATCGAGACCCGACGC chr7:154893442-Alternative-G;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Reference C acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga AACAATGTTCGC CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAaacaatgttcgcAGATCGAGACCCGACGC chr7:154893442-Reference-C;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Reference C acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GTCAGCTATAGA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgtcagctatagaAGATCGAGACCCGACGC chr7:154893442-Reference-C;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Reference C acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga CTCGCGTATTCG CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAActcgcgtattcgAGATCGAGACCCGACGC chr7:154893442-Reference-C;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Reference C acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GTTCAATATCGG CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgttcaatatcggAGATCGAGACCCGACGC chr7:154893442-Reference-C;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Reference C acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga ATTACAACGCGC CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttCtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAattacaacgcgcAGATCGAGACCCGACGC chr7:154893442-Reference-C;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative A acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga ACCGCTTGAGCA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAaccgcttgagcaAGATCGAGACCCGACGC chr7:154893442-Alternative-A;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative A acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga CATCTCGAGTAA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAcatctcgagtaaAGATCGAGACCCGACGC chr7:154893442-Alternative-A;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative A acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GCCGAACCTAGA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgccgaacctagaAGATCGAGACCCGACGC chr7:154893442-Alternative-A;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative A acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga CGAGATTCTCCT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttAtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAcgagattctcctAGATCGAGACCCGACGC chr7:154893442-Alternative-A;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative G acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga GCATCACGAATT CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAgcatcacgaattAGATCGAGACCCGACGC chr7:154893442-Alternative-G;Patient-30 chr7:154893442-CT Inherited Patient-30 intergenic NA 0.000512821 NA NA NA HTR5A 31407 Alternative G acaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccaga ACTTCTGAACGA CGACGCGGTCTCTCTCTacaggcctcactagattaaaatggagttttctgcagggctgcatgcctttGtggaggctctgggggagaatctgtccctgtgacacttttagggtccagaAGAGGGAGACGGACGTCTCAATAAacttctgaacgaAGATCGAGACCCGACGC chr7:154893442-Alternative-G;Patient-30 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative T catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg CGCAACTATACG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAcgcaactatacgAGATCGAGACCCGACGC chr7:154910384-Alternative-T;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative T catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg AGCGGACTATAA CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAagcggactataaAGATCGAGACCCGACGC chr7:154910384-Alternative-T;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative T catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg CATTCGCGTTCG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAcattcgcgttcgAGATCGAGACCCGACGC chr7:154910384-Alternative-T;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Variant A catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg ATTCCTCGAACG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAattcctcgaacgAGATCGAGACCCGACGC chr7:154910384-Variant-A;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative T catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg GGCTCTTATCGC CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAggctcttatcgcAGATCGAGACCCGACGC chr7:154910384-Alternative-T;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Variant A catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg AGCAACGCTAGG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAagcaacgctaggAGATCGAGACCCGACGC chr7:154910384-Variant-A;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Variant A catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg ACACCTTCAGCT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAacaccttcagctAGATCGAGACCCGACGC chr7:154910384-Variant-A;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Variant A catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg GCAATCGACGCT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAgcaatcgacgctAGATCGAGACCCGACGC chr7:154910384-Variant-A;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Variant A catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg GTCGCCTAGGTT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtAcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAgtcgcctaggttAGATCGAGACCCGACGC chr7:154910384-Variant-A;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Reference G catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg CGGAAGGTGGAT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAcggaaggtggatAGATCGAGACCCGACGC chr7:154910384-Reference-G;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative T catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg AGGAAGTATTCG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtTcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAaggaagtattcgAGATCGAGACCCGACGC chr7:154910384-Alternative-T;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative C catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg AAGGCGCAAGAA CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAaaggcgcaagaaAGATCGAGACCCGACGC chr7:154910384-Alternative-C;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative C catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg ACGTCGGAACAG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAacgtcggaacagAGATCGAGACCCGACGC chr7:154910384-Alternative-C;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Reference G catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg ATCGAGGATTCA CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAatcgaggattcaAGATCGAGACCCGACGC chr7:154910384-Reference-G;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Reference G catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg GAGCAAGATGGT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAgagcaagatggtAGATCGAGACCCGACGC chr7:154910384-Reference-G;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Reference G catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg GTCGCTTACAGG CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAgtcgcttacaggAGATCGAGACCCGACGC chr7:154910384-Reference-G;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative C catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg ATAGCGTGTCTA CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAatagcgtgtctaAGATCGAGACCCGACGC chr7:154910384-Alternative-C;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Reference G catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg CATATTGCCGAT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtGcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAcatattgccgatAGATCGAGACCCGACGC chr7:154910384-Reference-G;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative C catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg AAGACGAGTTCA CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAAaagacgagttcaAGATCGAGACCCGACGC chr7:154910384-Alternative-C;Patient-55 chr7:154910384-GA DeNovo Patient-55 intergenic 0.000106 0.0564 -0.07 1.75 -0.09 HTR5A 48349 Alternative C catgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtg CTAGCTTGTACT CGACGCGGTCTCTCTCTcatgcggtgatgtggagggcaggttttgggagagatgtttaggagatggtCcatggtgatgtggagggcaggctttgggagagatgtttagcagatggtgAGAGGGAGACGGACGTCTCAATAActagcttgtactAGATCGAGACCCGACGC chr7:154910384-Alternative-C;Patient-55 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Reference C caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat CTGCATTGTTCA CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAActgcattgttcaAGATCGAGACCCGACGC chr7:155287130-Reference-C;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Reference C caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GACCTACAACCT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgacctacaacctAGATCGAGACCCGACGC chr7:155287130-Reference-C;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Variant T caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat CATCGCGTCGTT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAcatcgcgtcgttAGATCGAGACCCGACGC chr7:155287130-Variant-T;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative G caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GTCGTAACCTGG CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgtcgtaacctggAGATCGAGACCCGACGC chr7:155287130-Alternative-G;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative G caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GGTTGTACGTGC CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAggttgtacgtgcAGATCGAGACCCGACGC chr7:155287130-Alternative-G;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative G caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat CGGAATCGGTGT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAcggaatcggtgtAGATCGAGACCCGACGC chr7:155287130-Alternative-G;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative G caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat ACATGCTCCGCA CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAacatgctccgcaAGATCGAGACCCGACGC chr7:155287130-Alternative-G;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative G caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat AACGAGCAACCT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgGgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAaacgagcaacctAGATCGAGACCCGACGC chr7:155287130-Alternative-G;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Variant T caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat AGCGTATAGTCT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAagcgtatagtctAGATCGAGACCCGACGC chr7:155287130-Variant-T;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Reference C caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat ACTGCGGAAGCT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAactgcggaagctAGATCGAGACCCGACGC chr7:155287130-Reference-C;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Variant T caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat CATTCTAAGGAC CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAcattctaaggacAGATCGAGACCCGACGC chr7:155287130-Variant-T;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Variant T caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GCGCATAGGCTT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgcgcataggcttAGATCGAGACCCGACGC chr7:155287130-Variant-T;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Reference C caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GTAAGGCCGGTT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgtaaggccggttAGATCGAGACCCGACGC chr7:155287130-Reference-C;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative A caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GCGCTCAATGAA CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgcgctcaatgaaAGATCGAGACCCGACGC chr7:155287130-Alternative-A;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative A caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GAATCGTTCTGA CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgaatcgttctgaAGATCGAGACCCGACGC chr7:155287130-Alternative-A;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Variant T caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GTATCGTCACTT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgTgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgtatcgtcacttAGATCGAGACCCGACGC chr7:155287130-Variant-T;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative A caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GTTACACCGCAG CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAgttacaccgcagAGATCGAGACCCGACGC chr7:155287130-Alternative-A;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative A caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat CGCTCTAGGCTT CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAcgctctaggcttAGATCGAGACCCGACGC chr7:155287130-Alternative-A;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Alternative A caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat ATCACGACAACG CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgAgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAatcacgacaacgAGATCGAGACCCGACGC chr7:155287130-Alternative-A;Patient-54 chr7:155287130-CT Inherited Patient-54 intergenic 3.2e-05 0.000513 -0.08 1.64 -0.22 EN2 36305 Reference C caagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagat GGAGGACGTCTA CGACGCGGTCTCTCTCTcaagggaggcacgcacgtgctgcagagccgggaatctggcctttgacctgCgccacttgtaagtctccagaccctagtctgttcttcccaagttggagatAGAGGGAGACGGACGTCTCAATAAggaggacgtctaAGATCGAGACCCGACGC chr7:155287130-Reference-C;Patient-54 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative A tcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CGTTGCTTGACC CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcgttgcttgaccAGATCGAGACCCGACGC chr7:155349828-Alternative-A;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative A tcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CTTGAATGACCA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAActtgaatgaccaAGATCGAGACCCGACGC chr7:155349828-Alternative-A;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative A tcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GGTTGACTGATT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAggttgactgattAGATCGAGACCCGACGC chr7:155349828-Alternative-A;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Variant T tcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt AAGAATCGGCTT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAaagaatcggcttAGATCGAGACCCGACGC chr7:155349828-Variant-T;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Variant T tcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CGATACACCGGT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcgatacaccggtAGATCGAGACCCGACGC chr7:155349828-Variant-T;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Reference C tcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GCGATAGACGCA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgcgatagacgcaAGATCGAGACCCGACGC chr7:155349828-Reference-C;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Reference C tcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CTTGCGCTTACG CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAActtgcgcttacgAGATCGAGACCCGACGC chr7:155349828-Reference-C;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative A tcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GATGGCATCCGT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgatggcatccgtAGATCGAGACCCGACGC chr7:155349828-Alternative-A;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Reference C tcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CACACGCCTTAT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcacacgccttatAGATCGAGACCCGACGC chr7:155349828-Reference-C;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Reference C tcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CGGCGTGACTAA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcggcgtgactaaAGATCGAGACCCGACGC chr7:155349828-Reference-C;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Reference C tcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt AGGTTGAGCACG CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaCggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAaggttgagcacgAGATCGAGACCCGACGC chr7:155349828-Reference-C;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative A tcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CGGTGTATCTTA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaAggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcggtgtatcttaAGATCGAGACCCGACGC chr7:155349828-Alternative-A;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative G tcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt AGCAAGTGGCTA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAagcaagtggctaAGATCGAGACCCGACGC chr7:155349828-Alternative-G;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Variant T tcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt CATGAATCGCGG CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAcatgaatcgcggAGATCGAGACCCGACGC chr7:155349828-Variant-T;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Variant T tcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GTCCGTGCTGTT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgtccgtgctgttAGATCGAGACCCGACGC chr7:155349828-Variant-T;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Variant T tcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GTGTCTTATTCG CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaTggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgtgtcttattcgAGATCGAGACCCGACGC chr7:155349828-Variant-T;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative G tcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt AGTTAGACGCAA CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAagttagacgcaaAGATCGAGACCCGACGC chr7:155349828-Alternative-G;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative G tcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GACATCACGAAC CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgacatcacgaacAGATCGAGACCCGACGC chr7:155349828-Alternative-G;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative G tcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GCCTTGGTACAC CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAgccttggtacacAGATCGAGACCCGACGC chr7:155349828-Alternative-G;Patient-100 chr7:155349828-CT DeNovo Patient-100 intergenic 0.000223 0.00142 -0.18 0.82 -1.74 EN2 99003 Alternative G tcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggtt GGCTTCGTACCT CGACGCGGTCTCTCTCTtcagggatagactctctgggacagatactgttcttatcaagcccacttaaGggacaggagaaactgaggcttacagcagataagcacagtgcttcaggttAGAGGGAGACGGACGTCTCAATAAggcttcgtacctAGATCGAGACCCGACGC chr7:155349828-Alternative-G;Patient-100 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative G gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta ACTTCGAAGTCA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAacttcgaagtcaAGATCGAGACCCGACGC chr7:155410193-Alternative-G;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative G gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta CGCTACTAACTT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAcgctactaacttAGATCGAGACCCGACGC chr7:155410193-Alternative-G;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative G gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GAGCAAGTGACA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgagcaagtgacaAGATCGAGACCCGACGC chr7:155410193-Alternative-G;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative G gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta CGAAGCTAACTA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAcgaagctaactaAGATCGAGACCCGACGC chr7:155410193-Alternative-G;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative G gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GCGACTCTCGAA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgGgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgcgactctcgaaAGATCGAGACCCGACGC chr7:155410193-Alternative-G;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative A gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GTTGACGACGCT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgttgacgacgctAGATCGAGACCCGACGC chr7:155410193-Alternative-A;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative A gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GTAATACCGTCA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgtaataccgtcaAGATCGAGACCCGACGC chr7:155410193-Alternative-A;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Reference T gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta CTATCCGAGTCA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAActatccgagtcaAGATCGAGACCCGACGC chr7:155410193-Reference-T;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Variant C gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta ACTTGCACCATT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAacttgcaccattAGATCGAGACCCGACGC chr7:155410193-Variant-C;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Reference T gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta AGTTCTAAGTCG CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAagttctaagtcgAGATCGAGACCCGACGC chr7:155410193-Reference-T;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative A gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GTATTCGCATTC CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgtattcgcattcAGATCGAGACCCGACGC chr7:155410193-Alternative-A;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Reference T gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GCACGTTAATCG CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgcacgttaatcgAGATCGAGACCCGACGC chr7:155410193-Reference-T;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative A gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GCATTGTCAAGA CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgcattgtcaagaAGATCGAGACCCGACGC chr7:155410193-Alternative-A;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Reference T gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta ATCACGCGTAGT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAatcacgcgtagtAGATCGAGACCCGACGC chr7:155410193-Reference-T;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Variant C gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta CAACTCTCACAT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAcaactctcacatAGATCGAGACCCGACGC chr7:155410193-Variant-C;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Variant C gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GTGTATCACCTT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgtgtatcaccttAGATCGAGACCCGACGC chr7:155410193-Variant-C;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Variant C gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta AAGATAATCGGC CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAaagataatcggcAGATCGAGACCCGACGC chr7:155410193-Variant-C;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Reference T gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta CACGCTTCTGAC CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgTgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAcacgcttctgacAGATCGAGACCCGACGC chr7:155410193-Reference-T;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Variant C gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta GCGTTATTGCGG CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgCgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAgcgttattgcggAGATCGAGACCCGACGC chr7:155410193-Variant-C;Patient-89 chr7:155410193-TC Inherited Patient-89 intergenic 0.00028 0.106 -0.07 1.69 0 CNPY1 83653 Alternative A gtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgta ATCCGTTCCATT CGACGCGGTCTCTCTCTgtaatgtgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgAgtgtaccctgatgggtgtgaggtggtatttctgtgttgtaatgtgtgtaAGAGGGAGACGGACGTCTCAATAAatccgttccattAGATCGAGACCCGACGC chr7:155410193-Alternative-A;Patient-89 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Reference C gcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GTGTACTGCGTC CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAgtgtactgcgtcAGATCGAGACCCGACGC chr7:155585616-Reference-C;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Reference C gcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CGGCGTAAGCAT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAcggcgtaagcatAGATCGAGACCCGACGC chr7:155585616-Reference-C;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Reference C gcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg AGCAGGTGATTA CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAagcaggtgattaAGATCGAGACCCGACGC chr7:155585616-Reference-C;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Reference C gcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CACGCGTACATC CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAcacgcgtacatcAGATCGAGACCCGACGC chr7:155585616-Reference-C;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative G gcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GCAAGTGAACAT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAgcaagtgaacatAGATCGAGACCCGACGC chr7:155585616-Alternative-G;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Reference C gcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg ACTTCGACGGCA CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatCgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAacttcgacggcaAGATCGAGACCCGACGC chr7:155585616-Reference-C;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative G gcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg ACGATTACGTCG CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAacgattacgtcgAGATCGAGACCCGACGC chr7:155585616-Alternative-G;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative G gcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CTCATCGCGTGA CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAActcatcgcgtgaAGATCGAGACCCGACGC chr7:155585616-Alternative-G;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative G gcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GTGTTCACGACG CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAgtgttcacgacgAGATCGAGACCCGACGC chr7:155585616-Alternative-G;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative A gcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg ACAGGTACGGCA CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAacaggtacggcaAGATCGAGACCCGACGC chr7:155585616-Alternative-A;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative A gcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg ATCATGCGTCGG CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAatcatgcgtcggAGATCGAGACCCGACGC chr7:155585616-Alternative-A;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative G gcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CTTAAGAGAGCA CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatGgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAActtaagagagcaAGATCGAGACCCGACGC chr7:155585616-Alternative-G;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative A gcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CTTGATGCATCG CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAActtgatgcatcgAGATCGAGACCCGACGC chr7:155585616-Alternative-A;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Variant T gcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GGTCGTTGATGC CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAggtcgttgatgcAGATCGAGACCCGACGC chr7:155585616-Variant-T;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative A gcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GATCGTGGTATT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAgatcgtggtattAGATCGAGACCCGACGC chr7:155585616-Alternative-A;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Alternative A gcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CGAGGTGTATGG CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatAgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAcgaggtgtatggAGATCGAGACCCGACGC chr7:155585616-Alternative-A;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Variant T gcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg AACGTCTGTAGT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAaacgtctgtagtAGATCGAGACCCGACGC chr7:155585616-Variant-T;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Variant T gcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg CAACCACAACGT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAcaaccacaacgtAGATCGAGACCCGACGC chr7:155585616-Variant-T;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Variant T gcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg GCACCTAAGACT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAgcacctaagactAGATCGAGACCCGACGC chr7:155585616-Variant-T;Patient-55 chr7:155585616-CT Inherited Patient-55 intergenic 0.000127 0.001025641 -0.15 1 -0.75 SHH 19350 Variant T gcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcggg AACTCTAGGCTT CGACGCGGTCTCTCTCTgcattagatgttctcctcccctaggctagaagatttctattccaagctatTgctgtcctgctcagtgctttggatgcccctgaattgaggtgtggtcgggAGAGGGAGACGGACGTCTCAATAAaactctaggcttAGATCGAGACCCGACGC chr7:155585616-Variant-T;Patient-55 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative C ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt AACGCCATGGAT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAaacgccatggatAGATCGAGACCCGACGC chr7:15646463-Alternative-C;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Variant A ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GCAACACTTCGG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgcaacacttcggAGATCGAGACCCGACGC chr7:15646463-Variant-A;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Reference T ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt ACTTGTTCACCA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAacttgttcaccaAGATCGAGACCCGACGC chr7:15646463-Reference-T;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Reference T ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GATGGACTTCAT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgatggacttcatAGATCGAGACCCGACGC chr7:15646463-Reference-T;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Reference T ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt AATGTCGTGAGA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAaatgtcgtgagaAGATCGAGACCCGACGC chr7:15646463-Reference-T;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Variant A ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GTCGCGATGTTC CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgtcgcgatgttcAGATCGAGACCCGACGC chr7:15646463-Variant-A;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Reference T ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GGATGTAGGTCG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAggatgtaggtcgAGATCGAGACCCGACGC chr7:15646463-Reference-T;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Variant A ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GGATGTGATCTT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAggatgtgatcttAGATCGAGACCCGACGC chr7:15646463-Variant-A;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative G ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GTAAGTTACGCT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgtaagttacgctAGATCGAGACCCGACGC chr7:15646463-Alternative-G;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative G ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GGACGTGATGAA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAggacgtgatgaaAGATCGAGACCCGACGC chr7:15646463-Alternative-G;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Reference T ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GTAGAAGGTGTT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagTcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgtagaaggtgttAGATCGAGACCCGACGC chr7:15646463-Reference-T;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative G ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt ATTGACGCTGGT CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAattgacgctggtAGATCGAGACCCGACGC chr7:15646463-Alternative-G;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative G ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GATTCGACTTGA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgattcgacttgaAGATCGAGACCCGACGC chr7:15646463-Alternative-G;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative C ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt CGACTAAGACGG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAcgactaagacggAGATCGAGACCCGACGC chr7:15646463-Alternative-C;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative G ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GTCTCTGAACGG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagGcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgtctctgaacggAGATCGAGACCCGACGC chr7:15646463-Alternative-G;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Variant A ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt CGCGATCACAAG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAcgcgatcacaagAGATCGAGACCCGACGC chr7:15646463-Variant-A;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Variant A ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt CGACGTTCCGAA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagAcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAcgacgttccgaaAGATCGAGACCCGACGC chr7:15646463-Variant-A;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative C ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt CATCGTCAATGA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAcatcgtcaatgaAGATCGAGACCCGACGC chr7:15646463-Alternative-C;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative C ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GCCTGCGACTAA CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgcctgcgactaaAGATCGAGACCCGACGC chr7:15646463-Alternative-C;Patient-65 chr7:15646463-TA Inherited Patient-65 intergenic 0.000127 0.00103 -0.02 2.3 0.12 AGMO 44822 Alternative C ctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagtt GTGCTAGTAGCG CGACGCGGTCTCTCTCTctacaatcacatgcctccagtaagcaaaaatttgcccaaaaatgtggtagCcagaggcaactttgaaaggcttatttcacacgttcttctaaaagaagttAGAGGGAGACGGACGTCTCAATAAgtgctagtagcgAGATCGAGACCCGACGC chr7:15646463-Alternative-C;Patient-65 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative G tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca AACAGGCTGTGG CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAaacaggctgtggAGATCGAGACCCGACGC chr7:156800752-Alternative-G;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Variant T tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CGGCGAAGTATC CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcggcgaagtatcAGATCGAGACCCGACGC chr7:156800752-Variant-T;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative G tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca GTACGTTGACAT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAgtacgttgacatAGATCGAGACCCGACGC chr7:156800752-Alternative-G;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Variant T tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CGTCACGTTCGT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcgtcacgttcgtAGATCGAGACCCGACGC chr7:156800752-Variant-T;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative G tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CTTAGTGTACCT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAActtagtgtacctAGATCGAGACCCGACGC chr7:156800752-Alternative-G;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative G tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca ACTTCTTGACGT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAacttcttgacgtAGATCGAGACCCGACGC chr7:156800752-Alternative-G;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Variant T tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca GTGTACCGAACG CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAgtgtaccgaacgAGATCGAGACCCGACGC chr7:156800752-Variant-T;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative G tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca ACAACAACACGA CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctGttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAacaacaacacgaAGATCGAGACCCGACGC chr7:156800752-Alternative-G;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Variant T tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca AACGCTCGACGT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAaacgctcgacgtAGATCGAGACCCGACGC chr7:156800752-Variant-T;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Variant T tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CACTTCTACGGC CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctTttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcacttctacggcAGATCGAGACCCGACGC chr7:156800752-Variant-T;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative A tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca AATACCGGACTT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAaataccggacttAGATCGAGACCCGACGC chr7:156800752-Alternative-A;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Reference C tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca GTGCCGGATAAC CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAgtgccggataacAGATCGAGACCCGACGC chr7:156800752-Reference-C;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative A tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CTGAGCATTGCG CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAActgagcattgcgAGATCGAGACCCGACGC chr7:156800752-Alternative-A;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Reference C tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca ACAATAGTGGAC CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAacaatagtggacAGATCGAGACCCGACGC chr7:156800752-Reference-C;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative A tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca GAGTATGAAGTC CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAgagtatgaagtcAGATCGAGACCCGACGC chr7:156800752-Alternative-A;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Reference C tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca AAGTTCCATCGA CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAaagttccatcgaAGATCGAGACCCGACGC chr7:156800752-Reference-C;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative A tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CGGTGTTATTCA CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcggtgttattcaAGATCGAGACCCGACGC chr7:156800752-Alternative-A;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Reference C tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CACGATCATACG CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcacgatcatacgAGATCGAGACCCGACGC chr7:156800752-Reference-C;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Alternative A tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca CGCAGTTAGCAT CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctAttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAcgcagttagcatAGATCGAGACCCGACGC chr7:156800752-Alternative-A;Patient-100 chr7:156800752-CT DeNovo Patient-100 intronic MNX1 NA 3.91e-05 0.18 5.55 -0.02 MNX1 2594 Reference C tctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtca AGGAGGTCATTA CGACGCGGTCTCTCTCTtctttggcacggttatgcctgcccttttggattgccaggtgcagatacctCttctgaacttaagactggttgtgtttaaaatttggccaactctaggtcaAGAGGGAGACGGACGTCTCAATAAaggaggtcattaAGATCGAGACCCGACGC chr7:156800752-Reference-C;Patient-100 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative C aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt CGCTAATCGCGT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAcgctaatcgcgtAGATCGAGACCCGACGC chr7:158709823-Alternative-C;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Variant A aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt GGCGAATCGCAT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAggcgaatcgcatAGATCGAGACCCGACGC chr7:158709823-Variant-A;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative C aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt GTCTCTGAGACA CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAgtctctgagacaAGATCGAGACCCGACGC chr7:158709823-Alternative-C;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Variant A aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt ATTATGTGACGC CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAattatgtgacgcAGATCGAGACCCGACGC chr7:158709823-Variant-A;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative T aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt ACCTTCGCTTAA CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAaccttcgcttaaAGATCGAGACCCGACGC chr7:158709823-Alternative-T;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative C aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt CTAACAGCGTAA CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAActaacagcgtaaAGATCGAGACCCGACGC chr7:158709823-Alternative-C;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Reference G aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt ATTCGTAACGGT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAattcgtaacggtAGATCGAGACCCGACGC chr7:158709823-Reference-G;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative T aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt AGTCGTGCTCCT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAagtcgtgctcctAGATCGAGACCCGACGC chr7:158709823-Alternative-T;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Variant A aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt AGCGCTGAAGAA CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAagcgctgaagaaAGATCGAGACCCGACGC chr7:158709823-Variant-A;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Reference G aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt ACAAGCGCTCCT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAacaagcgctcctAGATCGAGACCCGACGC chr7:158709823-Reference-G;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative T aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt CTAATACGCGTT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAActaatacgcgttAGATCGAGACCCGACGC chr7:158709823-Alternative-T;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative T aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt ATCGTGAATTGC CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAatcgtgaattgcAGATCGAGACCCGACGC chr7:158709823-Alternative-T;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Variant A aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt AACGCAATGGCG CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAaacgcaatggcgAGATCGAGACCCGACGC chr7:158709823-Variant-A;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Reference G aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt CACGGTGCGAAT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAcacggtgcgaatAGATCGAGACCCGACGC chr7:158709823-Reference-G;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Variant A aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt GGTCTGAGTCGT CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacActggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAggtctgagtcgtAGATCGAGACCCGACGC chr7:158709823-Variant-A;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative T aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt CAGGCTAGGTAC CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacTctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAcaggctaggtacAGATCGAGACCCGACGC chr7:158709823-Alternative-T;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative C aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt GGCTAGCGACTA CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAggctagcgactaAGATCGAGACCCGACGC chr7:158709823-Alternative-C;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Alternative C aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt AACGCATTCGGC CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacCctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAaacgcattcggcAGATCGAGACCCGACGC chr7:158709823-Alternative-C;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Reference G aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt GCGTGTATGTCG CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAgcgtgtatgtcgAGATCGAGACCCGACGC chr7:158709823-Reference-G;Patient-82 chr7:158709823-GA DeNovo Patient-82 intronic WDR60 0.00047 0.000396 -0.03 2.26 0 WDR60 60553 Reference G aaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacatt AGCTAACTCTAC CGACGCGGTCTCTCTCTaaacgtctacacgctggttgacattaaggatgattgtgaaacctcgacacGctggttgagattaaggatgattgtgaaatgttgacacgtggttgacattAGAGGGAGACGGACGTCTCAATAAagctaactctacAGATCGAGACCCGACGC chr7:158709823-Reference-G;Patient-82 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative G tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg ACGAGCCATAAG CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAacgagccataagAGATCGAGACCCGACGC chr7:158883673-Alternative-G;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Reference T tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GTCATCGTAGAT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgtcatcgtagatAGATCGAGACCCGACGC chr7:158883673-Reference-T;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Reference T tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GCGGTGGAGATT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgcggtggagattAGATCGAGACCCGACGC chr7:158883673-Reference-T;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Reference T tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg CGGATGACCAAC CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAcggatgaccaacAGATCGAGACCCGACGC chr7:158883673-Reference-T;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative G tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GGATATCGGACG CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAggatatcggacgAGATCGAGACCCGACGC chr7:158883673-Alternative-G;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative A tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AGTGAATCGAAC CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAagtgaatcgaacAGATCGAGACCCGACGC chr7:158883673-Alternative-A;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative G tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg CGCGCTTAGATA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAcgcgcttagataAGATCGAGACCCGACGC chr7:158883673-Alternative-G;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Reference T tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GGAGATGCAATT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAggagatgcaattAGATCGAGACCCGACGC chr7:158883673-Reference-T;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Reference T tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AACGGTCGACAT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatTgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAaacggtcgacatAGATCGAGACCCGACGC chr7:158883673-Reference-T;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative A tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AGCCAATTCTGA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAagccaattctgaAGATCGAGACCCGACGC chr7:158883673-Alternative-A;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Variant C tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg ACTTCGTCGCCA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAacttcgtcgccaAGATCGAGACCCGACGC chr7:158883673-Variant-C;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Variant C tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg CATCGACGAATT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAcatcgacgaattAGATCGAGACCCGACGC chr7:158883673-Variant-C;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative A tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg ACACACGACGTC CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAacacacgacgtcAGATCGAGACCCGACGC chr7:158883673-Alternative-A;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative A tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GATGTTACGTGA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgatgttacgtgaAGATCGAGACCCGACGC chr7:158883673-Alternative-A;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Variant C tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AGACGATCGGCA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAagacgatcggcaAGATCGAGACCCGACGC chr7:158883673-Variant-C;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative A tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GCGCGCAAGTAT CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatAgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgcgcgcaagtatAGATCGAGACCCGACGC chr7:158883673-Alternative-A;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Variant C tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AGCTAAGACAAC CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAagctaagacaacAGATCGAGACCCGACGC chr7:158883673-Variant-C;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Variant C tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg AACGGCGATTCG CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatCgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAaacggcgattcgAGATCGAGACCCGACGC chr7:158883673-Variant-C;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative G tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GCAACCGGCTAA CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgcaaccggctaaAGATCGAGACCCGACGC chr7:158883673-Alternative-G;Patient-71 chr7:158883673-TC DeNovo Patient-71 intronic VIPR2 0.000978 0.00351 -0.04 2.08 0.14 VIPR2 53975 Alternative G tcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacagggg GATGTTCGTAAC CGACGCGGTCTCTCTCTtcagcacagacacgctgggatcacgcacaggggccacctcctgcgaccatGgcaatccccggtgacctcagcacagacacgctgggaccacgcacaggggAGAGGGAGACGGACGTCTCAATAAgatgttcgtaacAGATCGAGACCCGACGC chr7:158883673-Alternative-G;Patient-71 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Reference G gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag AACGATGCTCTA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAaacgatgctctaAGATCGAGACCCGACGC chr7:16410707-Reference-G;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Reference G gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GTGTCGGTTCGA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgtgtcggttcgaAGATCGAGACCCGACGC chr7:16410707-Reference-G;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Reference G gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GATCGGTTGTCG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgatcggttgtcgAGATCGAGACCCGACGC chr7:16410707-Reference-G;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Variant A gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag CAGGTGAACAAC CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAcaggtgaacaacAGATCGAGACCCGACGC chr7:16410707-Variant-A;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Reference G gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag AGCAACAATACG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAagcaacaatacgAGATCGAGACCCGACGC chr7:16410707-Reference-G;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Reference G gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GAGCAAGGCTAT CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaGgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgagcaaggctatAGATCGAGACCCGACGC chr7:16410707-Reference-G;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative C gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GCGCAATCATAA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgcgcaatcataaAGATCGAGACCCGACGC chr7:16410707-Alternative-C;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Variant A gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag AGCTACACGTGC CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAagctacacgtgcAGATCGAGACCCGACGC chr7:16410707-Variant-A;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative T gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag AGGACAGCGATA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAaggacagcgataAGATCGAGACCCGACGC chr7:16410707-Alternative-T;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative C gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag CGAACTAACAAG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAcgaactaacaagAGATCGAGACCCGACGC chr7:16410707-Alternative-C;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative C gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag ACTTCCGAACAT CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAacttccgaacatAGATCGAGACCCGACGC chr7:16410707-Alternative-C;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative C gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag CGTGACAAGGAC CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAcgtgacaaggacAGATCGAGACCCGACGC chr7:16410707-Alternative-C;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative T gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag CACGAGCATGTT CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAcacgagcatgttAGATCGAGACCCGACGC chr7:16410707-Alternative-T;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative T gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GTCAAGCTGACT CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgtcaagctgactAGATCGAGACCCGACGC chr7:16410707-Alternative-T;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Variant A gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag CGAGATTCCTAA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAcgagattcctaaAGATCGAGACCCGACGC chr7:16410707-Variant-A;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Variant A gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GTCGTTAAGACG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgtcgttaagacgAGATCGAGACCCGACGC chr7:16410707-Variant-A;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative T gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag AGCATACGGCGA CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAagcatacggcgaAGATCGAGACCCGACGC chr7:16410707-Alternative-T;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Variant A gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GCCGAATACGAG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaAgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgccgaatacgagAGATCGAGACCCGACGC chr7:16410707-Variant-A;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative T gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag ACGACTTCGACG CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaTgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAacgacttcgacgAGATCGAGACCCGACGC chr7:16410707-Alternative-T;Patient-33 chr7:16410707-GA DeNovo Patient-33 intronic ISPD NA 4.95e-05 NA NA NA ISPD 50239 Alternative C gtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagag GACTGGACTCGT CGACGCGGTCTCTCTCTgtgaggctatgaggtagatcgctttcctgctggcctggcaggggagctgaCgtagctcccacccttcatctaataaatcttcagcatgtctaattgagagAGAGGGAGACGGACGTCTCAATAAgactggactcgtAGATCGAGACCCGACGC chr7:16410707-Alternative-C;Patient-33 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Reference T gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttat CTTGCACAAGGT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAActtgcacaaggtAGATCGAGACCCGACGC chr7:16449794-Reference-T;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Reference T gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttat AACGCAAGATGA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAaacgcaagatgaAGATCGAGACCCGACGC chr7:16449794-Reference-T;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Reference T gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttat GTCGAACATGAA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgtcgaacatgaaAGATCGAGACCCGACGC chr7:16449794-Reference-T;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative G gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttat CGGTCAGCTGTT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcggtcagctgttAGATCGAGACCCGACGC chr7:16449794-Alternative-G;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Reference T gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttat CGGCTTGTTCGT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcggcttgttcgtAGATCGAGACCCGACGC chr7:16449794-Reference-T;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative G gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttat GTACCGAACGAG CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgtaccgaacgagAGATCGAGACCCGACGC chr7:16449794-Alternative-G;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative A gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttat CGTGCGGTACTT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcgtgcggtacttAGATCGAGACCCGACGC chr7:16449794-Alternative-A;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Reference T gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttat AGCATGAGAATC CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctTgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAagcatgagaatcAGATCGAGACCCGACGC chr7:16449794-Reference-T;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative G gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttat CAGCGAACACAG CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcagcgaacacagAGATCGAGACCCGACGC chr7:16449794-Alternative-G;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative G gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttat GGTATCGCTGCA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAggtatcgctgcaAGATCGAGACCCGACGC chr7:16449794-Alternative-G;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative G gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttat ACTGAAGTCAGA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctGgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAactgaagtcagaAGATCGAGACCCGACGC chr7:16449794-Alternative-G;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Variant C gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttat GTTACGCATTCA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgttacgcattcaAGATCGAGACCCGACGC chr7:16449794-Variant-C;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Variant C gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttat CTGAACGTACTT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAActgaacgtacttAGATCGAGACCCGACGC chr7:16449794-Variant-C;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative A gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttat GTAACTAGTAGG CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgtaactagtaggAGATCGAGACCCGACGC chr7:16449794-Alternative-A;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative A gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttat GACCTACAAGCG CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgacctacaagcgAGATCGAGACCCGACGC chr7:16449794-Alternative-A;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative A gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttat GTCTACACAGCG CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgtctacacagcgAGATCGAGACCCGACGC chr7:16449794-Alternative-A;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Variant C gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttat GACAAGTAGGTT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAgacaagtaggttAGATCGAGACCCGACGC chr7:16449794-Variant-C;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Variant C gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttat CGACTCGAACGT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcgactcgaacgtAGATCGAGACCCGACGC chr7:16449794-Variant-C;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Alternative A gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttat AGTTCGCCTAGT CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctAgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAagttcgcctagtAGATCGAGACCCGACGC chr7:16449794-Alternative-A;Patient-91 chr7:16449794-TC Inherited Patient-91 intronic ISPD 0.000127 0.000148 -0.71 0.02 -5.14 ISPD 11152 Variant C gtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttat CAATTGCCGGCA CGACGCGGTCTCTCTCTgtttctaggtatttgaccctctgctctggtttctaggtcctaaggctcctCgagagctgggattactttcatatttcacacaccttgggaggatgtttatAGAGGGAGACGGACGTCTCAATAAcaattgccggcaAGATCGAGACCCGACGC chr7:16449794-Variant-C;Patient-91 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Variant C gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CAGTACCAGGAT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAcagtaccaggatAGATCGAGACCCGACGC chr7:17348664-Variant-C;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative T gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GTAGCGTCTGAG CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgtagcgtctgagAGATCGAGACCCGACGC chr7:17348664-Alternative-T;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative T gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GAGGTTACGCCT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgaggttacgcctAGATCGAGACCCGACGC chr7:17348664-Alternative-T;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative T gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ACTCTCGCATCA CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAactctcgcatcaAGATCGAGACCCGACGC chr7:17348664-Alternative-T;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative T gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CGTCTACGGAGT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAcgtctacggagtAGATCGAGACCCGACGC chr7:17348664-Alternative-T;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Reference G gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CAACGTGGACGA CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAcaacgtggacgaAGATCGAGACCCGACGC chr7:17348664-Reference-G;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Reference G gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ACGAACGACGGT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAacgaacgacggtAGATCGAGACCCGACGC chr7:17348664-Reference-G;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Reference G gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ACGCTATGTCCT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAacgctatgtcctAGATCGAGACCCGACGC chr7:17348664-Reference-G;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Reference G gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GACAAGTCGTGG CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgacaagtcgtggAGATCGAGACCCGACGC chr7:17348664-Reference-G;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Variant C gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ACTTCTACGCGC CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAacttctacgcgcAGATCGAGACCCGACGC chr7:17348664-Variant-C;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative T gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ACGCTGAACATT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatTatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAacgctgaacattAGATCGAGACCCGACGC chr7:17348664-Alternative-T;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Reference G gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CACGGTAGCCAA CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatGatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAcacggtagccaaAGATCGAGACCCGACGC chr7:17348664-Reference-G;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Variant C gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GGAACGTCTATT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAggaacgtctattAGATCGAGACCCGACGC chr7:17348664-Variant-C;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative A gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CTACAAGACATC CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAActacaagacatcAGATCGAGACCCGACGC chr7:17348664-Alternative-A;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative A gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GAGCCTAATAAC CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgagcctaataacAGATCGAGACCCGACGC chr7:17348664-Alternative-A;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative A gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct ATAAGCACGCAA CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAataagcacgcaaAGATCGAGACCCGACGC chr7:17348664-Alternative-A;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative A gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GATAGCCTACAG CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgatagcctacagAGATCGAGACCCGACGC chr7:17348664-Alternative-A;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Alternative A gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct AGTCGTTCGCAG CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatAatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAagtcgttcgcagAGATCGAGACCCGACGC chr7:17348664-Alternative-A;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Variant C gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct CGCTATCGCATA CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAcgctatcgcataAGATCGAGACCCGACGC chr7:17348664-Variant-C;Patient-55 chr7:17348664-GC Inherited Patient-55 intronic AHR 6.4e-05 4.95e-05 -0.01 2.49 0.64 AHR 10387 Variant C gtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggct GTACCAACGTAT CGACGCGGTCTCTCTCTgtataaggtataaattactttagtttcccagttcagcgtgggtatctgatCatttttaaattcactttaagtgattaatgtctgctgtgaaatcctggctAGAGGGAGACGGACGTCTCAATAAgtaccaacgtatAGATCGAGACCCGACGC chr7:17348664-Variant-C;Patient-55 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative G gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AATGCGCTCTTA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaatgcgctcttaAGATCGAGACCCGACGC chr7:19694059-Alternative-G;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative G gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CGTACAAGACCG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAcgtacaagaccgAGATCGAGACCCGACGC chr7:19694059-Alternative-G;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative G gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CATTCGCTAACA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAcattcgctaacaAGATCGAGACCCGACGC chr7:19694059-Alternative-G;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative G gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AAGGACCGATGG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaaggaccgatggAGATCGAGACCCGACGC chr7:19694059-Alternative-G;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Variant T gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CTAAGCAGGATA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAActaagcaggataAGATCGAGACCCGACGC chr7:19694059-Variant-T;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Variant T gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AGTGAACGTAGT CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAagtgaacgtagtAGATCGAGACCCGACGC chr7:19694059-Variant-T;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative G gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc GTGATCCATAAC CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtGctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAgtgatccataacAGATCGAGACCCGACGC chr7:19694059-Alternative-G;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Variant T gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AAGGCTCTCGCA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaaggctctcgcaAGATCGAGACCCGACGC chr7:19694059-Variant-T;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Variant T gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CGCCAATAGACG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAcgccaatagacgAGATCGAGACCCGACGC chr7:19694059-Variant-T;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Variant T gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc ACACATAAGCGA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtTctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAacacataagcgaAGATCGAGACCCGACGC chr7:19694059-Variant-T;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative A gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CGATATCTTCGT CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAcgatatcttcgtAGATCGAGACCCGACGC chr7:19694059-Alternative-A;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative A gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc GAGATGAGAGCG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAgagatgagagcgAGATCGAGACCCGACGC chr7:19694059-Alternative-A;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative A gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AACGTGACATGA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaacgtgacatgaAGATCGAGACCCGACGC chr7:19694059-Alternative-A;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Reference C gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc GCGACACATTCG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAgcgacacattcgAGATCGAGACCCGACGC chr7:19694059-Reference-C;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative A gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc ATCGGTATCCGC CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAatcggtatccgcAGATCGAGACCCGACGC chr7:19694059-Alternative-A;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Reference C gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AACGATGACCGC CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaacgatgaccgcAGATCGAGACCCGACGC chr7:19694059-Reference-C;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Alternative A gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc GATGGTCATCTA CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtActccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAgatggtcatctaAGATCGAGACCCGACGC chr7:19694059-Alternative-A;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Reference C gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc CTCGTGTTCAAT CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAActcgtgttcaatAGATCGAGACCCGACGC chr7:19694059-Reference-C;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Reference C gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc GCGCTAGGTCTT CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAgcgctaggtcttAGATCGAGACCCGACGC chr7:19694059-Reference-C;Patient-61 chr7:19694059-CT Inherited Patient-61 intergenic 9.6e-05 0.000513 -0.39 0.19 -0.22 TWISTNB 54600 Reference C gctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtcc AGGAAGTTCGAG CGACGCGGTCTCTCTCTgctatttcctgctggataggggtgaagaaggggccctgcagtggtagtgtCctccagaggagaactctgtaggccagccaaagggtcagtgggtcagtccAGAGGGAGACGGACGTCTCAATAAaggaagttcgagAGATCGAGACCCGACGC chr7:19694059-Reference-C;Patient-61 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative A aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CTGCTCGACCTA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAActgctcgacctaAGATCGAGACCCGACGC chr7:20284328-Alternative-A;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Variant C aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GACAGTACGCGT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgacagtacgcgtAGATCGAGACCCGACGC chr7:20284328-Variant-C;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative A aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CGTTGGCATCGA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAcgttggcatcgaAGATCGAGACCCGACGC chr7:20284328-Alternative-A;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative A aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc AGGCGGCAAGTT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAaggcggcaagttAGATCGAGACCCGACGC chr7:20284328-Alternative-A;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative A aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GTGAACTGCATT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgtgaactgcattAGATCGAGACCCGACGC chr7:20284328-Alternative-A;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Variant C aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc ACTAGAACACGA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAactagaacacgaAGATCGAGACCCGACGC chr7:20284328-Variant-C;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Variant C aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CATATAGCAGTC CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAcatatagcagtcAGATCGAGACCCGACGC chr7:20284328-Variant-C;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative G aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GGAATACTTCCA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAggaatacttccaAGATCGAGACCCGACGC chr7:20284328-Alternative-G;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative G aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc AGCGGCATAACT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAagcggcataactAGATCGAGACCCGACGC chr7:20284328-Alternative-G;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Variant C aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CTGTCGGATTAA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAActgtcggattaaAGATCGAGACCCGACGC chr7:20284328-Variant-C;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative G aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc ATTAACCGTGCA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAattaaccgtgcaAGATCGAGACCCGACGC chr7:20284328-Alternative-G;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative G aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GGTGTTCATTGA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAggtgttcattgaAGATCGAGACCCGACGC chr7:20284328-Alternative-G;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Variant C aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GGATAACAACCA CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaCcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAggataacaaccaAGATCGAGACCCGACGC chr7:20284328-Variant-C;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Reference T aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GTTGGTGCGAAC CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgttggtgcgaacAGATCGAGACCCGACGC chr7:20284328-Reference-T;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative G aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GTACTCGTGTGG CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaGcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgtactcgtgtggAGATCGAGACCCGACGC chr7:20284328-Alternative-G;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Alternative A aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CGAGTTGGCTGT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaAcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAcgagttggctgtAGATCGAGACCCGACGC chr7:20284328-Alternative-A;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Reference T aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GACTATAACGTC CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgactataacgtcAGATCGAGACCCGACGC chr7:20284328-Reference-T;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Reference T aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc CAGGTGGCTTGT CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAcaggtggcttgtAGATCGAGACCCGACGC chr7:20284328-Reference-T;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Reference T aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GAGCCTATACAG CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgagcctatacagAGATCGAGACCCGACGC chr7:20284328-Reference-T;Patient-89 chr7:20284328-TC Inherited Patient-89 intergenic NA 0.000513 -0.04 2.07 0.16 ITGB8 86396 Reference T aaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgc GACCTAACGCAG CGACGCGGTCTCTCTCTaaatcagaatctgtccatttctagttagaaatctgggacaaattactttaTcctgagattaattcttctcactggcaaaaatggaggtaatgcctcttgcAGAGGGAGACGGACGTCTCAATAAgacctaacgcagAGATCGAGACCCGACGC chr7:20284328-Reference-T;Patient-89 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative C cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac GTTGTTCTAAGG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAgttgttctaaggAGATCGAGACCCGACGC chr7:2239971-Alternative-C;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative C cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac AAGTGTAGCGAA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAaagtgtagcgaaAGATCGAGACCCGACGC chr7:2239971-Alternative-C;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative C cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ATAAGCGATACG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAataagcgatacgAGATCGAGACCCGACGC chr7:2239971-Alternative-C;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Variant A cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ACTAGCTCGGCA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAactagctcggcaAGATCGAGACCCGACGC chr7:2239971-Variant-A;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Variant A cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac GTACCACTTACG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAgtaccacttacgAGATCGAGACCCGACGC chr7:2239971-Variant-A;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Variant A cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac AACTCCGCGTAT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAaactccgcgtatAGATCGAGACCCGACGC chr7:2239971-Variant-A;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative C cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac GCCGTCTTGACT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAgccgtcttgactAGATCGAGACCCGACGC chr7:2239971-Alternative-C;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative C cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac AACTCCGTAGAA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccCgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAaactccgtagaaAGATCGAGACCCGACGC chr7:2239971-Alternative-C;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Variant A cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ACTTACTGGTCA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAacttactggtcaAGATCGAGACCCGACGC chr7:2239971-Variant-A;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Variant A cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac GGTTCATCGTGG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccAgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAggttcatcgtggAGATCGAGACCCGACGC chr7:2239971-Variant-A;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative T cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac AACCAACTGAGT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAaaccaactgagtAGATCGAGACCCGACGC chr7:2239971-Alternative-T;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Reference G cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ATCGACCAAGCG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAatcgaccaagcgAGATCGAGACCCGACGC chr7:2239971-Reference-G;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative T cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac CGTCAATACGAT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAcgtcaatacgatAGATCGAGACCCGACGC chr7:2239971-Alternative-T;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Reference G cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac GACCATAACGAA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAgaccataacgaaAGATCGAGACCCGACGC chr7:2239971-Reference-G;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Reference G cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac CGATGCGTGATT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAcgatgcgtgattAGATCGAGACCCGACGC chr7:2239971-Reference-G;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative T cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ACCTCGTGAACA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAacctcgtgaacaAGATCGAGACCCGACGC chr7:2239971-Alternative-T;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative T cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac CTTATAGCGGTT CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAActtatagcggttAGATCGAGACCCGACGC chr7:2239971-Alternative-T;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Alternative T cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac ACTGCGTGCGAA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccTgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAactgcgtgcgaaAGATCGAGACCCGACGC chr7:2239971-Alternative-T;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Reference G cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac CGCGAGCGTATA CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAcgcgagcgtataAGATCGAGACCCGACGC chr7:2239971-Reference-G;Patient-76 chr7:2239971-GA Inherited Patient-76 intronic MAD1L1 0.000862 0.000198 -0.21 0.65 -1.5 MAD1L1 32611 Reference G cacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacac CAGATTAGGTGG CGACGCGGTCTCTCTCTcacatcctcctcaggactccccaccagacgaaagtcccatggcaacagccGgatcttgttctccactgggcccccgacaccaggcaccaggcctgcacacAGAGGGAGACGGACGTCTCAATAAcagattaggtggAGATCGAGACCCGACGC chr7:2239971-Reference-G;Patient-76 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Reference C ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt ACACAGCTACAC CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAacacagctacacAGATCGAGACCCGACGC chr7:22669895-Reference-C;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Reference C ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GGCGGTTCAATC CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAggcggttcaatcAGATCGAGACCCGACGC chr7:22669895-Reference-C;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative G ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GGTCTTGACGGT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAggtcttgacggtAGATCGAGACCCGACGC chr7:22669895-Alternative-G;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Reference C ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GGAGTCCGCTAT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAggagtccgctatAGATCGAGACCCGACGC chr7:22669895-Reference-C;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Reference C ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CGGAATATGAGT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcggaatatgagtAGATCGAGACCCGACGC chr7:22669895-Reference-C;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Reference C ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GTGTAATGACCT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcCcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAgtgtaatgacctAGATCGAGACCCGACGC chr7:22669895-Reference-C;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative G ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CAGCTAGCGTCT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcagctagcgtctAGATCGAGACCCGACGC chr7:22669895-Alternative-G;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative G ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CAGAGATAGTGG CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcagagatagtggAGATCGAGACCCGACGC chr7:22669895-Alternative-G;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative G ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CGTAGCGTACCT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcgtagcgtacctAGATCGAGACCCGACGC chr7:22669895-Alternative-G;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative A ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CAAGAGGTTCAA CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcaagaggttcaaAGATCGAGACCCGACGC chr7:22669895-Alternative-A;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative A ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GCACGCTTACCA CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAgcacgcttaccaAGATCGAGACCCGACGC chr7:22669895-Alternative-A;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative G ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CGATTACAAGTC CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcGcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcgattacaagtcAGATCGAGACCCGACGC chr7:22669895-Alternative-G;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Variant T ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CAACACCGATAC CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcaacaccgatacAGATCGAGACCCGACGC chr7:22669895-Variant-T;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Variant T ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt AAGCGTGCGCTT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAaagcgtgcgcttAGATCGAGACCCGACGC chr7:22669895-Variant-T;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative A ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CAGCGCACTTGA CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcagcgcacttgaAGATCGAGACCCGACGC chr7:22669895-Alternative-A;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative A ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GAGTCATTAGCT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAgagtcattagctAGATCGAGACCCGACGC chr7:22669895-Alternative-A;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Variant T ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CTCTCTAGCGCT CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAActctctagcgctAGATCGAGACCCGACGC chr7:22669895-Variant-T;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Alternative A ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt CGGTCAGTGTGA CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcAcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAcggtcagtgtgaAGATCGAGACCCGACGC chr7:22669895-Alternative-A;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Variant T ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt GTCTAGTACGGC CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAgtctagtacggcAGATCGAGACCCGACGC chr7:22669895-Variant-T;Patient-98 chr7:22669895-CT DeNovo Patient-98 intergenic NA 0.000513 -0.04 2.01 -0.41 IL6 96870 Variant T ctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagt ATTCCGCTTGCA CGACGCGGTCTCTCTCTctcctgcggctgaagtcacacaggcctctaggtgacccgatcctggtgtcTcaggctcagctctgtgtggagtccacagaagctgctccccagcccaagtAGAGGGAGACGGACGTCTCAATAAattccgcttgcaAGATCGAGACCCGACGC chr7:22669895-Variant-T;Patient-98 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative T ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga CTCGTATTGAAC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAActcgtattgaacAGATCGAGACCCGACGC chr7:22693139-Alternative-T;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative A ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ACCGTACTATGA CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAaccgtactatgaAGATCGAGACCCGACGC chr7:22693139-Alternative-A;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative A ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga CAAGACGTAAGG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAcaagacgtaaggAGATCGAGACCCGACGC chr7:22693139-Alternative-A;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative A ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga GCGGTTGCGAAT CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAgcggttgcgaatAGATCGAGACCCGACGC chr7:22693139-Alternative-A;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative A ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga AGCTGATACTGA CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAagctgatactgaAGATCGAGACCCGACGC chr7:22693139-Alternative-A;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative T ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga GGTTAGATGGCG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAggttagatggcgAGATCGAGACCCGACGC chr7:22693139-Alternative-T;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Variant C ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga GATTCGCTCGTC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAgattcgctcgtcAGATCGAGACCCGACGC chr7:22693139-Variant-C;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Variant C ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga GGCGAATTCGTC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAggcgaattcgtcAGATCGAGACCCGACGC chr7:22693139-Variant-C;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative A ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga CACTATGCCAAT CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatAcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAcactatgccaatAGATCGAGACCCGACGC chr7:22693139-Alternative-A;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative T ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga CGTTCAACGGAC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAcgttcaacggacAGATCGAGACCCGACGC chr7:22693139-Alternative-T;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative T ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ATTCACGTCGAG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAattcacgtcgagAGATCGAGACCCGACGC chr7:22693139-Alternative-T;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Alternative T ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ACTCGTATTCAC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatTcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAactcgtattcacAGATCGAGACCCGACGC chr7:22693139-Alternative-T;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Reference G ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga AAGAACGACATC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAaagaacgacatcAGATCGAGACCCGACGC chr7:22693139-Reference-G;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Reference G ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga AACTACCGATGA CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAaactaccgatgaAGATCGAGACCCGACGC chr7:22693139-Reference-G;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Reference G ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ATCGCAACCACG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAatcgcaaccacgAGATCGAGACCCGACGC chr7:22693139-Reference-G;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Reference G ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga CGCCAACCAAGA CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAcgccaaccaagaAGATCGAGACCCGACGC chr7:22693139-Reference-G;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Reference G ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ATTAAGCGTACG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatGcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAattaagcgtacgAGATCGAGACCCGACGC chr7:22693139-Reference-G;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Variant C ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga AGATTACCGTGC CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAagattaccgtgcAGATCGAGACCCGACGC chr7:22693139-Variant-C;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Variant C ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga GATGAACGATCG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAgatgaacgatcgAGATCGAGACCCGACGC chr7:22693139-Variant-C;Patient-30 chr7:22693139-GC Inherited Patient-30 intergenic NA 0.00016 NA NA NA IL6 73626 Variant C ttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactga ACGTCTGTGTGG CGACGCGGTCTCTCTCTttaaaatttgagaagcacttttctaaatcaccatttaggtattcattcatCcaagtatttactcaacatacactgtgtaaaacaaaatgataggcactgaAGAGGGAGACGGACGTCTCAATAAacgtctgtgtggAGATCGAGACCCGACGC chr7:22693139-Variant-C;Patient-30 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative G tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg AACAAGCAGTGT CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAaacaagcagtgtAGATCGAGACCCGACGC chr7:2494637-Alternative-G;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative G tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CGAAGGCCGTAA CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAcgaaggccgtaaAGATCGAGACCCGACGC chr7:2494637-Alternative-G;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative G tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CTGAATCCTCAT CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAActgaatcctcatAGATCGAGACCCGACGC chr7:2494637-Alternative-G;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Variant T tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GGACGTAACCTA CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAggacgtaacctaAGATCGAGACCCGACGC chr7:2494637-Variant-T;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative G tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GGTTGCGAAGTC CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAggttgcgaagtcAGATCGAGACCCGACGC chr7:2494637-Alternative-G;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Variant T tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GAAGTTCGATGT CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAgaagttcgatgtAGATCGAGACCCGACGC chr7:2494637-Variant-T;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Variant T tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GCAGTCAATCAG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAgcagtcaatcagAGATCGAGACCCGACGC chr7:2494637-Variant-T;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Variant T tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CAGCTGTTGGAC CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAcagctgttggacAGATCGAGACCCGACGC chr7:2494637-Variant-T;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative A tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GATCCTGCGAAG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAgatcctgcgaagAGATCGAGACCCGACGC chr7:2494637-Alternative-A;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Variant T tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg AGCATAAGGCCG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcTgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAagcataaggccgAGATCGAGACCCGACGC chr7:2494637-Variant-T;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative A tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg AGTCGCCGATAC CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAagtcgccgatacAGATCGAGACCCGACGC chr7:2494637-Alternative-A;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative G tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GGAGGATCGAAG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcGgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAggaggatcgaagAGATCGAGACCCGACGC chr7:2494637-Alternative-G;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative A tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GATTGCGTTCTT CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAgattgcgttcttAGATCGAGACCCGACGC chr7:2494637-Alternative-A;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative A tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GGCCATTACAAC CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAggccattacaacAGATCGAGACCCGACGC chr7:2494637-Alternative-A;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Alternative A tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg GGCTTCGCTAAG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcAgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAggcttcgctaagAGATCGAGACCCGACGC chr7:2494637-Alternative-A;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Reference C tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg ACTCGCTCCATA CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAactcgctccataAGATCGAGACCCGACGC chr7:2494637-Reference-C;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Reference C tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CAGGTGTCGTAC CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAAcaggtgtcgtacAGATCGAGACCCGACGC chr7:2494637-Reference-C;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Reference C tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CTATCGCGTAAT CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAActatcgcgtaatAGATCGAGACCCGACGC chr7:2494637-Reference-C;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Reference C tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CTAATAACTCGG CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAActaataactcggAGATCGAGACCCGACGC chr7:2494637-Reference-C;Patient-99 chr7:2494637-CT DeNovo Patient-99 intergenic 0.000101 0.000513 -0.07 1.71 0 LFNG 57525 Reference C tctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctgg CTGGTATGAGAA CGACGCGGTCTCTCTCTtctcacccaggctggagtgcagtggcgcgatctcggctcactgcaagctcCgcctcccgggttcacaccattcttctgcctcagcctccccagtagctggAGAGGGAGACGGACGTCTCAATAActggtatgagaaAGATCGAGACCCGACGC chr7:2494637-Reference-C;Patient-99 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative A cctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt AGGCTCCGACAT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAaggctccgacatAGATCGAGACCCGACGC chr7:25073889-Alternative-A;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative A cctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GGCTTCGTACGA CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAggcttcgtacgaAGATCGAGACCCGACGC chr7:25073889-Alternative-A;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative A cctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GGTACGACGATT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAggtacgacgattAGATCGAGACCCGACGC chr7:25073889-Alternative-A;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative A cctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt CGTATACTGCGG CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAcgtatactgcggAGATCGAGACCCGACGC chr7:25073889-Alternative-A;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative A cctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GCGTTAACCGTT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaAgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgcgttaaccgttAGATCGAGACCCGACGC chr7:25073889-Alternative-A;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Reference T cctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt CTTAGTATCGGT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAActtagtatcggtAGATCGAGACCCGACGC chr7:25073889-Reference-T;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Variant C cctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt CTAATCACGGAC CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAActaatcacggacAGATCGAGACCCGACGC chr7:25073889-Variant-C;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Reference T cctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt ACGGTCGACACT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAacggtcgacactAGATCGAGACCCGACGC chr7:25073889-Reference-T;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Reference T cctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt ACCTAGCGTAAG CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAacctagcgtaagAGATCGAGACCCGACGC chr7:25073889-Reference-T;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Variant C cctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt CGCGCTCATACT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAcgcgctcatactAGATCGAGACCCGACGC chr7:25073889-Variant-C;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Variant C cctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GACGATATCGAT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgacgatatcgatAGATCGAGACCCGACGC chr7:25073889-Variant-C;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Variant C cctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GAGTTGGTGATA CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgagttggtgataAGATCGAGACCCGACGC chr7:25073889-Variant-C;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative G cctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt AAGGAACCTAAC CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAaaggaacctaacAGATCGAGACCCGACGC chr7:25073889-Alternative-G;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative G cctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt AGATATGTGCGT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAagatatgtgcgtAGATCGAGACCCGACGC chr7:25073889-Alternative-G;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative G cctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt ACGAGTACGCAG CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAacgagtacgcagAGATCGAGACCCGACGC chr7:25073889-Alternative-G;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Variant C cctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt ACTACGATCCGA CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaCgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAactacgatccgaAGATCGAGACCCGACGC chr7:25073889-Variant-C;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative G cctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt CTCTGAAGGTCA CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAActctgaaggtcaAGATCGAGACCCGACGC chr7:25073889-Alternative-G;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Reference T cctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GTCGACAGGAGT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgtcgacaggagtAGATCGAGACCCGACGC chr7:25073889-Reference-T;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Alternative G cctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GAGTCCGTGACT CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaGgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgagtccgtgactAGATCGAGACCCGACGC chr7:25073889-Alternative-G;Patient-19 chr7:25073889-TC DeNovo Patient-19 intergenic NA 0.000512821 -0.14 1.1 -0.08 CYCS 91090 Reference T cctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggt GACCTAATATCG CGACGCGGTCTCTCTCTcctttttccctgataccctttttctgtccccggatctcactgggacaccaTgttacagtcagtgcttgtgtctccttaggctcctcttggctgtggcggtAGAGGGAGACGGACGTCTCAATAAgacctaatatcgAGATCGAGACCCGACGC chr7:25073889-Reference-T;Patient-19 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Variant G acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat ACGCAACTCCGA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAacgcaactccgaAGATCGAGACCCGACGC chr7:26166574-Variant-G;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Variant G acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GCAGACGACTGA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgcagacgactgaAGATCGAGACCCGACGC chr7:26166574-Variant-G;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative T acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GAGATACTGGCG CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgagatactggcgAGATCGAGACCCGACGC chr7:26166574-Alternative-T;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative T acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat ACTCGCATACTT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAactcgcatacttAGATCGAGACCCGACGC chr7:26166574-Alternative-T;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Variant G acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GGCACGATTAAG CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAggcacgattaagAGATCGAGACCCGACGC chr7:26166574-Variant-G;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Variant G acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GTCCGGAGCTTA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgtccggagcttaAGATCGAGACCCGACGC chr7:26166574-Variant-G;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Variant G acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat ACACAGGACCAT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatGttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAacacaggaccatAGATCGAGACCCGACGC chr7:26166574-Variant-G;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative T acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat AACCGGTGACGT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAaaccggtgacgtAGATCGAGACCCGACGC chr7:26166574-Alternative-T;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative T acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GATGCTGTCCGA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgatgctgtccgaAGATCGAGACCCGACGC chr7:26166574-Alternative-T;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Reference A acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat CGTTATCACGTT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAcgttatcacgttAGATCGAGACCCGACGC chr7:26166574-Reference-A;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Reference A acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat AAGCATGGTACA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAaagcatggtacaAGATCGAGACCCGACGC chr7:26166574-Reference-A;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Reference A acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GTTAACGCTGCG CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgttaacgctgcgAGATCGAGACCCGACGC chr7:26166574-Reference-A;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative C acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat CAACTAATGCGT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAcaactaatgcgtAGATCGAGACCCGACGC chr7:26166574-Alternative-C;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Reference A acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GACCATTAGACG CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgaccattagacgAGATCGAGACCCGACGC chr7:26166574-Reference-A;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative T acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat CGGCAAGATGGT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatTttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAcggcaagatggtAGATCGAGACCCGACGC chr7:26166574-Alternative-T;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative C acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GGCGAGTGGTTA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAggcgagtggttaAGATCGAGACCCGACGC chr7:26166574-Alternative-C;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative C acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat ACTGTCTACGAA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAactgtctacgaaAGATCGAGACCCGACGC chr7:26166574-Alternative-C;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative C acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat ACGCTTGGTACG CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAacgcttggtacgAGATCGAGACCCGACGC chr7:26166574-Alternative-C;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Alternative C acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GCGAACGTGCAT CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatCttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgcgaacgtgcatAGATCGAGACCCGACGC chr7:26166574-Alternative-C;Patient-99 chr7:26166574-AG DeNovo Patient-99 intergenic NA 0.000160205 0.11 4.49 0.1 HNRNPA2B1 73838 Reference A acttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcat GATAGTCAGCTA CGACGCGGTCTCTCTCTacttgagagcacttctgtaagcccccaggatactgaattgaaagatttatAttaacacctgcaggcaaatctcttttgaacttgtccaaggcagaatcatAGAGGGAGACGGACGTCTCAATAAgatagtcagctaAGATCGAGACCCGACGC chr7:26166574-Reference-A;Patient-99 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative G ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg AGCGTTAGACCT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAagcgttagacctAGATCGAGACCCGACGC chr7:27261939-Alternative-G;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative G ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GCGAACCGTGTT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgcgaaccgtgttAGATCGAGACCCGACGC chr7:27261939-Alternative-G;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative G ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg CAGCACGCATTA CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAcagcacgcattaAGATCGAGACCCGACGC chr7:27261939-Alternative-G;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative G ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg CTAGGTGGTAGG CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAActaggtggtaggAGATCGAGACCCGACGC chr7:27261939-Alternative-G;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Variant T ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GTCATCACAAGG CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgtcatcacaaggAGATCGAGACCCGACGC chr7:27261939-Variant-T;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative G ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GTTCCATAAGGT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgGtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgttccataaggtAGATCGAGACCCGACGC chr7:27261939-Alternative-G;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Variant T ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg AGTATAGGTGGT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAagtataggtggtAGATCGAGACCCGACGC chr7:27261939-Variant-T;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Variant T ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg ACACACGGTAGT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAacacacggtagtAGATCGAGACCCGACGC chr7:27261939-Variant-T;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Variant T ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg CAGTTGGTGCGT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAcagttggtgcgtAGATCGAGACCCGACGC chr7:27261939-Variant-T;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Reference A ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GAATCGATGCTT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgaatcgatgcttAGATCGAGACCCGACGC chr7:27261939-Reference-A;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Reference A ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg CGAGATGCAGGT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAcgagatgcaggtAGATCGAGACCCGACGC chr7:27261939-Reference-A;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative C ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GTGCTCTATACT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgtgctctatactAGATCGAGACCCGACGC chr7:27261939-Alternative-C;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Variant T ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg ATAGTCGCGCAC CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgTtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAatagtcgcgcacAGATCGAGACCCGACGC chr7:27261939-Variant-T;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Reference A ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg ATCGCAACTCGG CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAatcgcaactcggAGATCGAGACCCGACGC chr7:27261939-Reference-A;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative C ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GTAGTCAACACT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgtagtcaacactAGATCGAGACCCGACGC chr7:27261939-Alternative-C;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative C ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg CATGCTACTAAG CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAcatgctactaagAGATCGAGACCCGACGC chr7:27261939-Alternative-C;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative C ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GGACCTATAACT CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAggacctataactAGATCGAGACCCGACGC chr7:27261939-Alternative-C;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Alternative C ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GATCATGCATCG CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgCtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgatcatgcatcgAGATCGAGACCCGACGC chr7:27261939-Alternative-C;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Reference A ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg ATATAACGACGC CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAatataacgacgcAGATCGAGACCCGACGC chr7:27261939-Reference-A;Patient-44 chr7:27261939-AT DeNovo Patient-44 intergenic NA 0.000513 0.89 12.54 -3.57 HOXA10 42058 Reference A ggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtg GAGTCACCACGA CGACGCGGTCTCTCTCTggggttgataggaagacttccctgggttttgtgtgtttgttttcgtgatgAtggaagggtactgagtgcaaagagcctttggtgttttgaatgcaaggtgAGAGGGAGACGGACGTCTCAATAAgagtcaccacgaAGATCGAGACCCGACGC chr7:27261939-Reference-A;Patient-44 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Reference G aactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GAATCTTGTGCA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgaatcttgtgcaAGATCGAGACCCGACGC chr7:27706268-Reference-G;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Reference G aactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GTGCTAATCGAT CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgtgctaatcgatAGATCGAGACCCGACGC chr7:27706268-Reference-G;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Reference G aactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GAGTAGTCAGAA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgagtagtcagaaAGATCGAGACCCGACGC chr7:27706268-Reference-G;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative T aactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg ACTGCTAGTAAG CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAactgctagtaagAGATCGAGACCCGACGC chr7:27706268-Alternative-T;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Reference G aactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GCAAGTAGGTAC CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgcaagtaggtacAGATCGAGACCCGACGC chr7:27706268-Reference-G;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative C aactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg ATAGTAAGTCGG CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAatagtaagtcggAGATCGAGACCCGACGC chr7:27706268-Alternative-C;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative T aactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GTAGCTATCGAT CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgtagctatcgatAGATCGAGACCCGACGC chr7:27706268-Alternative-T;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Reference G aactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg AGGTGCGGAACA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacGaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAaggtgcggaacaAGATCGAGACCCGACGC chr7:27706268-Reference-G;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Variant A aactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GTGCTTGTTAAG CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgtgcttgttaagAGATCGAGACCCGACGC chr7:27706268-Variant-A;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Variant A aactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg CAAGTTATCGAC CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAcaagttatcgacAGATCGAGACCCGACGC chr7:27706268-Variant-A;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative T aactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg ACGGCAGGTACA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAacggcaggtacaAGATCGAGACCCGACGC chr7:27706268-Alternative-T;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative C aactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg CTTATCGGCGTC CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAActtatcggcgtcAGATCGAGACCCGACGC chr7:27706268-Alternative-C;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative C aactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GTTCCATAGCTT CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgttccatagcttAGATCGAGACCCGACGC chr7:27706268-Alternative-C;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Variant A aactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GCGGACCATAAC CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgcggaccataacAGATCGAGACCCGACGC chr7:27706268-Variant-A;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative T aactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg CTAGGCGTAAGG CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAActaggcgtaaggAGATCGAGACCCGACGC chr7:27706268-Alternative-T;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative T aactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg CTTGTCTCGAAT CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacTaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAActtgtctcgaatAGATCGAGACCCGACGC chr7:27706268-Alternative-T;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Variant A aactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg CTTGCCGAAGCT CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAActtgccgaagctAGATCGAGACCCGACGC chr7:27706268-Variant-A;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative C aactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg AGATATGCGCAA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAagatatgcgcaaAGATCGAGACCCGACGC chr7:27706268-Alternative-C;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Variant A aactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GAATGTGGAGAA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacAaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgaatgtggagaaAGATCGAGACCCGACGC chr7:27706268-Variant-A;Patient-55 chr7:27706268-GA Inherited Patient-55 intergenic 0.000127 0.000513 -0.03 2.17 0.25 HIBADH 3647 Alternative C aactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggagg GCAACCTACTAA CGACGCGGTCTCTCTCTaactatctaatctaaacagagagaaactagactgggatttaaaaagctacCaagcgctgggcgaggtggctcaagcctgtaatcccagcactttgggaggAGAGGGAGACGGACGTCTCAATAAgcaacctactaaAGATCGAGACCCGACGC chr7:27706268-Alternative-C;Patient-55 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative A aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc GAAGTTATCACG CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAgaagttatcacgAGATCGAGACCCGACGC chr7:29863322-Alternative-A;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative A aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc GTAGGATGTAGT CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAgtaggatgtagtAGATCGAGACCCGACGC chr7:29863322-Alternative-A;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative A aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ACCGGTAAGCGT CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAaccggtaagcgtAGATCGAGACCCGACGC chr7:29863322-Alternative-A;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative T aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CAAGTACGTGCG CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcaagtacgtgcgAGATCGAGACCCGACGC chr7:29863322-Alternative-T;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative A aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ACACCTCTTGCA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAacacctcttgcaAGATCGAGACCCGACGC chr7:29863322-Alternative-A;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Reference C aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ACGAGATACAGG CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAacgagatacaggAGATCGAGACCCGACGC chr7:29863322-Reference-C;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Reference C aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc AGGCTTGCTCGA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAaggcttgctcgaAGATCGAGACCCGACGC chr7:29863322-Reference-C;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Reference C aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CAAGTTACGCGC CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcaagttacgcgcAGATCGAGACCCGACGC chr7:29863322-Reference-C;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Reference C aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc GTTCCAACAACA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAgttccaacaacaAGATCGAGACCCGACGC chr7:29863322-Reference-C;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative A aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ATCCGATCTTCT CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatAgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAatccgatcttctAGATCGAGACCCGACGC chr7:29863322-Alternative-A;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Reference C aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc AATAGACACCGA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatCgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAaatagacaccgaAGATCGAGACCCGACGC chr7:29863322-Reference-C;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative T aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ATTCAATCGTCC CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAattcaatcgtccAGATCGAGACCCGACGC chr7:29863322-Alternative-T;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Variant G aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CGGCAATACTTA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcggcaatacttaAGATCGAGACCCGACGC chr7:29863322-Variant-G;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Variant G aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CGGTATGGACCT CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcggtatggacctAGATCGAGACCCGACGC chr7:29863322-Variant-G;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative T aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc ACTACGATTGCA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAactacgattgcaAGATCGAGACCCGACGC chr7:29863322-Alternative-T;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Variant G aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc GCCGCTTATAGA CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAgccgcttatagaAGATCGAGACCCGACGC chr7:29863322-Variant-G;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative T aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CAACTCATGCAC CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcaactcatgcacAGATCGAGACCCGACGC chr7:29863322-Alternative-T;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Alternative T aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc CGCAACACTGTT CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatTgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAcgcaacactgttAGATCGAGACCCGACGC chr7:29863322-Alternative-T;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Variant G aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc AAGCAATCGAAC CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAaagcaatcgaacAGATCGAGACCCGACGC chr7:29863322-Variant-G;Patient-49 chr7:29863322-CG DeNovo Patient-49 intronic WIPF3 NA 0.00016 -0.14 1.08 0.24 WIPF3 17151 Variant G aactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctc AGTAACGCGTGG CGACGCGGTCTCTCTCTaactgtaatccccaatgttggaggtggggcctggtggcaggtgattggatGgtgggcggtttctcattattggtttagtgccatcccctcatcgttgctcAGAGGGAGACGGACGTCTCAATAAagtaacgcgtggAGATCGAGACCCGACGC chr7:29863322-Variant-G;Patient-49 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative G cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CGAGTGGCTACA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAcgagtggctacaAGATCGAGACCCGACGC chr7:3058765-Alternative-G;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative G cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AACGAGACACCT CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAaacgagacacctAGATCGAGACCCGACGC chr7:3058765-Alternative-G;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative G cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CTCTGGTAACGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAActctggtaacggAGATCGAGACCCGACGC chr7:3058765-Alternative-G;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative G cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CTGAAGCGATTA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAActgaagcgattaAGATCGAGACCCGACGC chr7:3058765-Alternative-G;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Variant A cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CGTTGTCAGACG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAcgttgtcagacgAGATCGAGACCCGACGC chr7:3058765-Variant-A;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative T cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CGACAGTAGTGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAcgacagtagtggAGATCGAGACCCGACGC chr7:3058765-Alternative-T;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Reference C cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac ATTGGTTCTGAG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAattggttctgagAGATCGAGACCCGACGC chr7:3058765-Reference-C;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative T cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AGTAATAGCCGT CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAagtaatagccgtAGATCGAGACCCGACGC chr7:3058765-Alternative-T;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative G cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AACACAGGAGAA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatGtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAaacacaggagaaAGATCGAGACCCGACGC chr7:3058765-Alternative-G;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative T cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac GACGGTGTTAGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAgacggtgttaggAGATCGAGACCCGACGC chr7:3058765-Alternative-T;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative T cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CTGTGTTAGCGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAActgtgttagcggAGATCGAGACCCGACGC chr7:3058765-Alternative-T;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Alternative T cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AAGGCGCGATCA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatTtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAaaggcgcgatcaAGATCGAGACCCGACGC chr7:3058765-Alternative-T;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Reference C cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AGGCTTGTCTGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAaggcttgtctggAGATCGAGACCCGACGC chr7:3058765-Reference-C;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Reference C cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac GCAGTATGGCTA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAgcagtatggctaAGATCGAGACCCGACGC chr7:3058765-Reference-C;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Variant A cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac GCATTCTGTTCA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAgcattctgttcaAGATCGAGACCCGACGC chr7:3058765-Variant-A;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Variant A cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CTTGTAGTACGA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAActtgtagtacgaAGATCGAGACCCGACGC chr7:3058765-Variant-A;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Variant A cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CTGCGGTATGCA CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAActgcggtatgcaAGATCGAGACCCGACGC chr7:3058765-Variant-A;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Variant A cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac AGGTGGACATAT CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatAtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAaggtggacatatAGATCGAGACCCGACGC chr7:3058765-Variant-A;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Reference C cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac ACGCGAATTCGG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAacgcgaattcggAGATCGAGACCCGACGC chr7:3058765-Reference-C;Patient-91 chr7:3058765-CA Inherited Patient-91 intronic CARD11 0.000269 0.00016 0.07 3.69 1.19 CARD11 24743 Reference C cagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctac CGCTAGATAACG CGACGCGGTCTCTCTCTcagcctgggcaacaagagcgaaactccatctcaaaaaaaaaaaaaaaaatCtgtgctcttggaactacatgtcatttacgttacatgtgcagaaatctacAGAGGGAGACGGACGTCTCAATAAcgctagataacgAGATCGAGACCCGACGC chr7:3058765-Reference-C;Patient-91 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative G attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CGTCCAATTCTA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcgtccaattctaAGATCGAGACCCGACGC chr7:30981392-Alternative-G;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative G attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CGAACACAGACG CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcgaacacagacgAGATCGAGACCCGACGC chr7:30981392-Alternative-G;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative A attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CACATTACGCAA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcacattacgcaaAGATCGAGACCCGACGC chr7:30981392-Alternative-A;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Variant T attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CACGAATGCGCT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcacgaatgcgctAGATCGAGACCCGACGC chr7:30981392-Variant-T;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Reference C attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta ATTATGCCTGAG CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAattatgcctgagAGATCGAGACCCGACGC chr7:30981392-Reference-C;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative G attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CATTGACTACAC CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcattgactacacAGATCGAGACCCGACGC chr7:30981392-Alternative-G;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative A attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CTAGCGTACTAT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAActagcgtactatAGATCGAGACCCGACGC chr7:30981392-Alternative-A;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Variant T attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CGATGGCTCGAT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcgatggctcgatAGATCGAGACCCGACGC chr7:30981392-Variant-T;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Reference C attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CGCCAAGATCGA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcgccaagatcgaAGATCGAGACCCGACGC chr7:30981392-Reference-C;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Variant T attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta ACTGCTATGTGA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAactgctatgtgaAGATCGAGACCCGACGC chr7:30981392-Variant-T;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Variant T attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CATAACGATGCT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcataacgatgctAGATCGAGACCCGACGC chr7:30981392-Variant-T;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Reference C attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta GCGTCACCATCA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAgcgtcaccatcaAGATCGAGACCCGACGC chr7:30981392-Reference-C;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative A attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta ACGATCACCACA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAacgatcaccacaAGATCGAGACCCGACGC chr7:30981392-Alternative-A;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative G attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta GTTCCAATCGGC CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAgttccaatcggcAGATCGAGACCCGACGC chr7:30981392-Alternative-G;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Reference C attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta ACCTCATTACGT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAacctcattacgtAGATCGAGACCCGACGC chr7:30981392-Reference-C;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative G attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CATGAGAGTCAA CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcGaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcatgagagtcaaAGATCGAGACCCGACGC chr7:30981392-Alternative-G;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Variant T attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta GACGATAGTCGG CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcTaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAgacgatagtcggAGATCGAGACCCGACGC chr7:30981392-Variant-T;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative A attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CGTTCACGCTGT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcgttcacgctgtAGATCGAGACCCGACGC chr7:30981392-Alternative-A;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Alternative A attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta CAACCAATTGAG CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcAaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAcaaccaattgagAGATCGAGACCCGACGC chr7:30981392-Alternative-A;Patient-81 chr7:30981392-CT DeNovo Patient-81 intergenic 0.000478 0.001538462 -0.19 0.78 -1.43 GHRHR 22243 Reference C attcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaacttta GGATACGCGCTT CGACGCGGTCTCTCTCTattcatttgtatgcaaattgtctatctattaattgatcaatcgatcaatcCaccaatttattgatccatcatctatctattaaagaaaggcgtaactttaAGAGGGAGACGGACGTCTCAATAAggatacgcgcttAGATCGAGACCCGACGC chr7:30981392-Reference-C;Patient-81 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative C aatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GACAAGAGGTTA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgacaagaggttaAGATCGAGACCCGACGC chr7:3103525-Alternative-C;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Variant A aatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GTACAGTGACGG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgtacagtgacggAGATCGAGACCCGACGC chr7:3103525-Variant-A;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative T aatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg AGAACGACGTAA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAagaacgacgtaaAGATCGAGACCCGACGC chr7:3103525-Alternative-T;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Variant A aatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg ATCGGAATATGG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAatcggaatatggAGATCGAGACCCGACGC chr7:3103525-Variant-A;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative T aatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg AGTGCGAGAGAT CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAagtgcgagagatAGATCGAGACCCGACGC chr7:3103525-Alternative-T;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative C aatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg CGTCGGATATCG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAcgtcggatatcgAGATCGAGACCCGACGC chr7:3103525-Alternative-C;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Variant A aatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GTGTATCAACCG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgtgtatcaaccgAGATCGAGACCCGACGC chr7:3103525-Variant-A;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative T aatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg ACCGTAGATCGC CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAaccgtagatcgcAGATCGAGACCCGACGC chr7:3103525-Alternative-T;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Reference G aatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg CGCTCAGGTAAG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAcgctcaggtaagAGATCGAGACCCGACGC chr7:3103525-Reference-G;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative T aatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GAGATCTGCGGT CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgagatctgcggtAGATCGAGACCCGACGC chr7:3103525-Alternative-T;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative C aatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg AGCAAGCCGTCA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAagcaagccgtcaAGATCGAGACCCGACGC chr7:3103525-Alternative-C;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative C aatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GACGATTCTCGG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgacgattctcggAGATCGAGACCCGACGC chr7:3103525-Alternative-C;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Variant A aatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg CGAAGCATCAGG CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAcgaagcatcaggAGATCGAGACCCGACGC chr7:3103525-Variant-A;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative C aatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GATATGACCGTT CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttCtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAgatatgaccgttAGATCGAGACCCGACGC chr7:3103525-Alternative-C;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Reference G aatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg AGTAATGACCGA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAagtaatgaccgaAGATCGAGACCCGACGC chr7:3103525-Reference-G;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Alternative T aatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg ACGCAGATGCGA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttTtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAacgcagatgcgaAGATCGAGACCCGACGC chr7:3103525-Alternative-T;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Variant A aatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg ATTGCGATACGT CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttAtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAattgcgatacgtAGATCGAGACCCGACGC chr7:3103525-Variant-A;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Reference G aatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg ACCGGACTAATA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAaccggactaataAGATCGAGACCCGACGC chr7:3103525-Reference-G;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Reference G aatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg AACTTCGAAGCT CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAaacttcgaagctAGATCGAGACCCGACGC chr7:3103525-Reference-G;Patient-85 chr7:3103525-GA Inherited Patient-85 intergenic 0.000287 0.000512821 -0.07 1.76 0.23 CARD11 20015 Reference G aatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctggg GGTACGGATCGA CGACGCGGTCTCTCTCTaatacaggtgcacactaccacgcccagataatttttaaattttcatttttGtggagatgaagtcttgctacattgcccaagctggtttcaaattcctgggAGAGGGAGACGGACGTCTCAATAAggtacggatcgaAGATCGAGACCCGACGC chr7:3103525-Reference-G;Patient-85 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative T gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc ACGACTGACGAG CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAacgactgacgagAGATCGAGACCCGACGC chr7:31083632-Alternative-T;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Variant A gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc ACACAGACGACG CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAacacagacgacgAGATCGAGACCCGACGC chr7:31083632-Variant-A;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative G gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc AGGTGCGGCTTA CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAaggtgcggcttaAGATCGAGACCCGACGC chr7:31083632-Alternative-G;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Reference C gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GTGTCGCGGTAT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgtgtcgcggtatAGATCGAGACCCGACGC chr7:31083632-Reference-C;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Reference C gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GCGATCGCTCTT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgcgatcgctcttAGATCGAGACCCGACGC chr7:31083632-Reference-C;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Variant A gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GGAACGCTTGCT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAggaacgcttgctAGATCGAGACCCGACGC chr7:31083632-Variant-A;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Variant A gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc ATCTATTCCGAC CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAatctattccgacAGATCGAGACCCGACGC chr7:31083632-Variant-A;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Variant A gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GTATATGCGCAT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgtatatgcgcatAGATCGAGACCCGACGC chr7:31083632-Variant-A;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative T gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc CGATATAGGTTC CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAcgatataggttcAGATCGAGACCCGACGC chr7:31083632-Alternative-T;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative G gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc CGCGCCGTTATT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAcgcgccgttattAGATCGAGACCCGACGC chr7:31083632-Alternative-G;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Reference C gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc AGGTTACGTGAA CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAaggttacgtgaaAGATCGAGACCCGACGC chr7:31083632-Reference-C;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Variant A gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GTTCCACTGCGT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataAtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgttccactgcgtAGATCGAGACCCGACGC chr7:31083632-Variant-A;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative T gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc AGATTGACGTGA CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAagattgacgtgaAGATCGAGACCCGACGC chr7:31083632-Alternative-T;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Reference C gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc AGATTGTCGTGT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAagattgtcgtgtAGATCGAGACCCGACGC chr7:31083632-Reference-C;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Reference C gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GGAATGCGGCAA CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataCtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAggaatgcggcaaAGATCGAGACCCGACGC chr7:31083632-Reference-C;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative T gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc CTAGCGTCGTTC CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAActagcgtcgttcAGATCGAGACCCGACGC chr7:31083632-Alternative-T;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative G gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc ACTCTTCGATGT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAactcttcgatgtAGATCGAGACCCGACGC chr7:31083632-Alternative-G;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative T gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GAGTTGGTGCGA CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataTtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgagttggtgcgaAGATCGAGACCCGACGC chr7:31083632-Alternative-T;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative G gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GTCGATGTGATT CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgtcgatgtgattAGATCGAGACCCGACGC chr7:31083632-Alternative-G;Patient-58 chr7:31083632-CA Inherited Patient-58 intergenic 6.4e-05 0.00154 0.04 3.21 1.51 ADCYAP1R1 8443 Alternative G gctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgc GTGTTACACCGG CGACGCGGTCTCTCTCTgctacatgtcagatctatgaagaaaaagagctaaaaatgaataattgataGtatattgtacttattctgtgctaggtactgttctaaatgctttacatgcAGAGGGAGACGGACGTCTCAATAAgtgttacaccggAGATCGAGACCCGACGC chr7:31083632-Alternative-G;Patient-58 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative C gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GATGCTCATCAA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgatgctcatcaaAGATCGAGACCCGACGC chr7:31087143-Alternative-C;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative C gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GGTATGAGGTTA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAggtatgaggttaAGATCGAGACCCGACGC chr7:31087143-Alternative-C;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Variant A gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct CGGCTGTATGGT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAcggctgtatggtAGATCGAGACCCGACGC chr7:31087143-Variant-A;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative C gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct ACGACTCGTGGT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAacgactcgtggtAGATCGAGACCCGACGC chr7:31087143-Alternative-C;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Variant A gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GCACCTACTGCT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgcacctactgctAGATCGAGACCCGACGC chr7:31087143-Variant-A;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative C gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct CTGCTGTGCAAG CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAActgctgtgcaagAGATCGAGACCCGACGC chr7:31087143-Alternative-C;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Variant A gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct CGATGCTTCAGG CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAcgatgcttcaggAGATCGAGACCCGACGC chr7:31087143-Variant-A;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative C gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GGTGACGAATAT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctCagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAggtgacgaatatAGATCGAGACCCGACGC chr7:31087143-Alternative-C;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Reference G gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct AACGACTCAGAA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAaacgactcagaaAGATCGAGACCCGACGC chr7:31087143-Reference-G;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Reference G gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GATTACTGGTAC CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgattactggtacAGATCGAGACCCGACGC chr7:31087143-Reference-G;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Reference G gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GACCTGGAACTA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgacctggaactaAGATCGAGACCCGACGC chr7:31087143-Reference-G;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative T gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GATAACGGATGT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgataacggatgtAGATCGAGACCCGACGC chr7:31087143-Alternative-T;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Variant A gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct CGGCTAGGACTT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAcggctaggacttAGATCGAGACCCGACGC chr7:31087143-Variant-A;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Variant A gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GTCGGCATTACG CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctAagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgtcggcattacgAGATCGAGACCCGACGC chr7:31087143-Variant-A;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative T gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GCGGATAAGATA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgcggataagataAGATCGAGACCCGACGC chr7:31087143-Alternative-T;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Reference G gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GGCGAGTATTAA CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAggcgagtattaaAGATCGAGACCCGACGC chr7:31087143-Reference-G;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative T gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct ATTCCTCGAATC CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAattcctcgaatcAGATCGAGACCCGACGC chr7:31087143-Alternative-T;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Reference G gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GTATCTGCGTCC CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctGagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgtatctgcgtccAGATCGAGACCCGACGC chr7:31087143-Reference-G;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative T gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct ATTGAACGCAGT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAattgaacgcagtAGATCGAGACCCGACGC chr7:31087143-Alternative-T;Patient-84 chr7:31087143-GA Inherited Patient-84 intergenic 9.6e-05 0.001538462 0.28 6.89 0.65 ADCYAP1R1 4932 Alternative T gcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgct GAGTTATGCTGT CGACGCGGTCTCTCTCTgcctgacagcgatgaagctatgcctctgcagacaggcctgctgcctgcctTagagtctgcaggagagggaacatctctatctcggtggagaagatgtgctAGAGGGAGACGGACGTCTCAATAAgagttatgctgtAGATCGAGACCCGACGC chr7:31087143-Alternative-T;Patient-84 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Variant G aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctga AGTTGATCCTGA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAagttgatcctgaAGATCGAGACCCGACGC chr7:31120865-Variant-G;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Variant G aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctga CAACCTTCGTCG CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAcaaccttcgtcgAGATCGAGACCCGACGC chr7:31120865-Variant-G;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Variant G aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctga GACTGATGAGAA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAgactgatgagaaAGATCGAGACCCGACGC chr7:31120865-Variant-G;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative T aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctga ACGACGCTCACA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAacgacgctcacaAGATCGAGACCCGACGC chr7:31120865-Alternative-T;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Variant G aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctga GGTGTAAGCATA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAggtgtaagcataAGATCGAGACCCGACGC chr7:31120865-Variant-G;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Reference A aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctga GCCGAATTACAC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAgccgaattacacAGATCGAGACCCGACGC chr7:31120865-Reference-A;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative T aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctga GTACGTACGAAC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAgtacgtacgaacAGATCGAGACCCGACGC chr7:31120865-Alternative-T;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative C aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctga AAGTAGTGCGGC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAaagtagtgcggcAGATCGAGACCCGACGC chr7:31120865-Alternative-C;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Reference A aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctga ACGTCGTTGTGG CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAacgtcgttgtggAGATCGAGACCCGACGC chr7:31120865-Reference-A;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Reference A aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctga ACCGTGCGTAAG CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAaccgtgcgtaagAGATCGAGACCCGACGC chr7:31120865-Reference-A;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Reference A aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctga ACCGAATGCCTA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAaccgaatgcctaAGATCGAGACCCGACGC chr7:31120865-Reference-A;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Variant G aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctga AGTCAATAAGCG CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaGgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAagtcaataagcgAGATCGAGACCCGACGC chr7:31120865-Variant-G;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative C aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctga AAGATAGCTGGT CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAaagatagctggtAGATCGAGACCCGACGC chr7:31120865-Alternative-C;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative T aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctga GCGTAGCTACGA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAgcgtagctacgaAGATCGAGACCCGACGC chr7:31120865-Alternative-T;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Reference A aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctga CGGTCGCGATAA CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaAgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAcggtcgcgataaAGATCGAGACCCGACGC chr7:31120865-Reference-A;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative T aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctga CTCTGCGTGTAC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAActctgcgtgtacAGATCGAGACCCGACGC chr7:31120865-Alternative-T;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative C aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctga AATCTATGCCGT CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAaatctatgccgtAGATCGAGACCCGACGC chr7:31120865-Alternative-C;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative T aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctga ATCAATGTGTGC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaTgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAatcaatgtgtgcAGATCGAGACCCGACGC chr7:31120865-Alternative-T;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative C aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctga AGTCTCTGTCGG CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAagtctctgtcggAGATCGAGACCCGACGC chr7:31120865-Alternative-C;Patient-28 chr7:31120865-AG DeNovo Patient-28 intronic ADCYAP1R1 NA 4.95e-05 -0.02 2.34 0 ADCYAP1R1 28788 Alternative C aaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctga AGTACTCCAATC CGACGCGGTCTCTCTCTaaagggtggaaatgggaataaagggtagggagagaagaaaaattgtctgaCgatgaagtcttctggattccctttgacggagagcagttttggaggctgaAGAGGGAGACGGACGTCTCAATAAagtactccaatcAGATCGAGACCCGACGC chr7:31120865-Alternative-C;Patient-28 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Reference G atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt GGAGTTCGTAAT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAggagttcgtaatAGATCGAGACCCGACGC chr7:3132432-Reference-G;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative T atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CGTAACAAGACA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAcgtaacaagacaAGATCGAGACCCGACGC chr7:3132432-Alternative-T;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative T atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ACTCTCAATTGC CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAactctcaattgcAGATCGAGACCCGACGC chr7:3132432-Alternative-T;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Reference G atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CGCCTACGCTAA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAcgcctacgctaaAGATCGAGACCCGACGC chr7:3132432-Reference-G;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative T atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CTGTGCGGAACA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAActgtgcggaacaAGATCGAGACCCGACGC chr7:3132432-Alternative-T;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Reference G atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CACTGAGGCTGA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAcactgaggctgaAGATCGAGACCCGACGC chr7:3132432-Reference-G;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative T atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ACCGAATATCGT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAaccgaatatcgtAGATCGAGACCCGACGC chr7:3132432-Alternative-T;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative T atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ATCTGGTCGTCC CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaTaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAatctggtcgtccAGATCGAGACCCGACGC chr7:3132432-Alternative-T;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative A atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CTGCGAGTTGGT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAActgcgagttggtAGATCGAGACCCGACGC chr7:3132432-Alternative-A;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Variant C atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ATTCGCATGTTC CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAattcgcatgttcAGATCGAGACCCGACGC chr7:3132432-Variant-C;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative A atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt AAGGTTCGACGG CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAaaggttcgacggAGATCGAGACCCGACGC chr7:3132432-Alternative-A;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Reference G atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt AAGGTGGAGATA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAaaggtggagataAGATCGAGACCCGACGC chr7:3132432-Reference-G;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative A atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt AACGAACTTCGT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAaacgaacttcgtAGATCGAGACCCGACGC chr7:3132432-Alternative-A;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Variant C atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CGCGGAATTGGT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAcgcggaattggtAGATCGAGACCCGACGC chr7:3132432-Variant-C;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Reference G atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ACGGCGCACATT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaGaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAacggcgcacattAGATCGAGACCCGACGC chr7:3132432-Reference-G;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Variant C atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt AACTCGCGGCTA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAaactcgcggctaAGATCGAGACCCGACGC chr7:3132432-Variant-C;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Variant C atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt CACGAGCGATAT CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAcacgagcgatatAGATCGAGACCCGACGC chr7:3132432-Variant-C;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative A atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt AGCATGCAACGG CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAagcatgcaacggAGATCGAGACCCGACGC chr7:3132432-Alternative-A;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Alternative A atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt ACGCGAGCATGA CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaAaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAacgcgagcatgaAGATCGAGACCCGACGC chr7:3132432-Alternative-A;Patient-87 chr7:3132432-GC DeNovo Patient-87 intergenic NA 0.000513 0.03 3.06 0.82 CARD11 48922 Variant C atgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgattt GAGTCATAATCG CGACGCGGTCTCTCTCTatgcctgtttgtcctgaccctacagcaggacgcaggcgccccaccacccaCaaccccagaaccggatgtaggaggtggtgagagctgcattggttgatttAGAGGGAGACGGACGTCTCAATAAgagtcataatcgAGATCGAGACCCGACGC chr7:3132432-Variant-C;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Reference G tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GCACGCTCCAAT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAgcacgctccaatAGATCGAGACCCGACGC chr7:3140853-Reference-G;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Variant A tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CACGGTCTGACT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcacggtctgactAGATCGAGACCCGACGC chr7:3140853-Variant-A;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Reference G tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AACTTATGCGCT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAaacttatgcgctAGATCGAGACCCGACGC chr7:3140853-Reference-G;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative T tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GACGGTGTTCGT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAgacggtgttcgtAGATCGAGACCCGACGC chr7:3140853-Alternative-T;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative T tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GGATGGTGTGGT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAggatggtgtggtAGATCGAGACCCGACGC chr7:3140853-Alternative-T;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Variant A tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CGGCTAATAAGA CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcggctaataagaAGATCGAGACCCGACGC chr7:3140853-Variant-A;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative T tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AGTATCGCAACT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAagtatcgcaactAGATCGAGACCCGACGC chr7:3140853-Alternative-T;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Variant A tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GATTAGGCTGAA CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAgattaggctgaaAGATCGAGACCCGACGC chr7:3140853-Variant-A;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative C tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CAGGCGATTAAT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcaggcgattaatAGATCGAGACCCGACGC chr7:3140853-Alternative-C;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative T tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CTTGATTACAGG CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAActtgattacaggAGATCGAGACCCGACGC chr7:3140853-Alternative-T;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Reference G tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AATAAGACGACC CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAaataagacgaccAGATCGAGACCCGACGC chr7:3140853-Reference-G;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative C tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CGTGAATCATCA CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcgtgaatcatcaAGATCGAGACCCGACGC chr7:3140853-Alternative-C;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Reference G tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AGTCATGGCGAG CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAagtcatggcgagAGATCGAGACCCGACGC chr7:3140853-Reference-G;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative T tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AACTTACGCAGT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaTatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAaacttacgcagtAGATCGAGACCCGACGC chr7:3140853-Alternative-T;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Reference G tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CATAGATCCTGA CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaGatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcatagatcctgaAGATCGAGACCCGACGC chr7:3140853-Reference-G;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Variant A tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GTGATGATCCAT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAgtgatgatccatAGATCGAGACCCGACGC chr7:3140853-Variant-A;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative C tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtcc CGCGACTCGTAA CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAcgcgactcgtaaAGATCGAGACCCGACGC chr7:3140853-Alternative-C;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative C tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtcc ACGACTTAGTGG CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAacgacttagtggAGATCGAGACCCGACGC chr7:3140853-Alternative-C;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Variant A tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtcc GTAGATATCGTC CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaAatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAgtagatatcgtcAGATCGAGACCCGACGC chr7:3140853-Variant-A;Patient-87 chr7:3140853-GA DeNovo Patient-87 intergenic NA 0.000513 0.19 5.66 0.16 CARD11 57343 Alternative C tgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtcc AGCTTGCTTGTT CGACGCGGTCTCTCTCTtgggaactcacaggtccaagcgaagataaaagccccataggaagtggtgaCatgggacagacacgctggcactggaggaagtgacctttctactgagtccAGAGGGAGACGGACGTCTCAATAAagcttgcttgttAGATCGAGACCCGACGC chr7:3140853-Alternative-C;Patient-87 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Variant T gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GTGTCGACGGTT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgtgtcgacggttAGATCGAGACCCGACGC chr7:32372628-Variant-T;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Variant T gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AGCACCATAAGA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAagcaccataagaAGATCGAGACCCGACGC chr7:32372628-Variant-T;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Variant T gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GAATCAACCACG CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgaatcaaccacgAGATCGAGACCCGACGC chr7:32372628-Variant-T;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Variant T gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AGGCCGGTCATA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAaggccggtcataAGATCGAGACCCGACGC chr7:32372628-Variant-T;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative A gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GCGAGTAATCTT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgcgagtaatcttAGATCGAGACCCGACGC chr7:32372628-Alternative-A;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative A gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GCGGAACAACGA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgcggaacaacgaAGATCGAGACCCGACGC chr7:32372628-Alternative-A;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Reference C gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AAGTTCACCTTC CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAaagttcaccttcAGATCGAGACCCGACGC chr7:32372628-Reference-C;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative A gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GTCTCTGCCGTT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgtctctgccgttAGATCGAGACCCGACGC chr7:32372628-Alternative-A;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Variant T gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta CGTGAATCGACC CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgTatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAcgtgaatcgaccAGATCGAGACCCGACGC chr7:32372628-Variant-T;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative A gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AACGGTGGTGGT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAaacggtggtggtAGATCGAGACCCGACGC chr7:32372628-Alternative-A;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative A gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GCGCGTGTACAT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgAatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgcgcgtgtacatAGATCGAGACCCGACGC chr7:32372628-Alternative-A;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Reference C gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AAGGCGATTCGC CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAaaggcgattcgcAGATCGAGACCCGACGC chr7:32372628-Reference-C;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Reference C gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta AACAACCTGTCA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAaacaacctgtcaAGATCGAGACCCGACGC chr7:32372628-Reference-C;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Reference C gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GTGCGCTTGGAT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgtgcgcttggatAGATCGAGACCCGACGC chr7:32372628-Reference-C;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Reference C gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta ACGGCCTTAACT CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgCatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAacggccttaactAGATCGAGACCCGACGC chr7:32372628-Reference-C;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative G gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GTTAAGGCGCAG CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgttaaggcgcagAGATCGAGACCCGACGC chr7:32372628-Alternative-G;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative G gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta CGATTACGACAG CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAcgattacgacagAGATCGAGACCCGACGC chr7:32372628-Alternative-G;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative G gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta ACTATATCGCAG CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAactatatcgcagAGATCGAGACCCGACGC chr7:32372628-Alternative-G;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative G gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta ACTTAGCGTCAA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAacttagcgtcaaAGATCGAGACCCGACGC chr7:32372628-Alternative-G;Patient-75 chr7:32372628-CT DeNovo Patient-75 intergenic NA 0.000513 0.11 4.42 1.31 PDE1C 34244 Alternative G gagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacactta GCGAGCAACTGA CGACGCGGTCTCTCTCTgagagtccatttcatgaaaacccataaacatgtacttttcgatttgtctgGatttatgtatttatgttgtacatcaataaaaatgtacccaaaacacttaAGAGGGAGACGGACGTCTCAATAAgcgagcaactgaAGATCGAGACCCGACGC chr7:32372628-Alternative-G;Patient-75 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative C atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt ACTCGGACGTGT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAactcggacgtgtAGATCGAGACCCGACGC chr7:33196229-Alternative-C;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Variant A atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt ATTAACGCGTGT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAattaacgcgtgtAGATCGAGACCCGACGC chr7:33196229-Variant-A;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Variant A atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AACCGAGATCAT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaaccgagatcatAGATCGAGACCCGACGC chr7:33196229-Variant-A;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative C atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt CACTTAGGTCGA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAcacttaggtcgaAGATCGAGACCCGACGC chr7:33196229-Alternative-C;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Variant A atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AGGTGGCTCTGT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaggtggctctgtAGATCGAGACCCGACGC chr7:33196229-Variant-A;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Variant A atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt CGTGTAAGCGAG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAcgtgtaagcgagAGATCGAGACCCGACGC chr7:33196229-Variant-A;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative C atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt GGCTTGCTACGA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAggcttgctacgaAGATCGAGACCCGACGC chr7:33196229-Alternative-C;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative C atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AAGATCATGCAG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaagatcatgcagAGATCGAGACCCGACGC chr7:33196229-Alternative-C;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative C atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt GTTGGCGTAAGG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagCcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAgttggcgtaaggAGATCGAGACCCGACGC chr7:33196229-Alternative-C;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Variant A atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt ACCTAAGACAAG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagAcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAacctaagacaagAGATCGAGACCCGACGC chr7:33196229-Variant-A;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative T atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt ACGGCGGTTGTT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAacggcggttgttAGATCGAGACCCGACGC chr7:33196229-Alternative-T;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative T atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AGGTACCTCTAA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaggtacctctaaAGATCGAGACCCGACGC chr7:33196229-Alternative-T;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative T atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt CGGAGAGATCGA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAcggagagatcgaAGATCGAGACCCGACGC chr7:33196229-Alternative-T;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative T atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt ACTCGCTAGTAA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAactcgctagtaaAGATCGAGACCCGACGC chr7:33196229-Alternative-T;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Reference G atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AAGGTTGCTATC CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaaggttgctatcAGATCGAGACCCGACGC chr7:33196229-Reference-G;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Reference G atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AGGAGTAACACG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAaggagtaacacgAGATCGAGACCCGACGC chr7:33196229-Reference-G;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Alternative T atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt GCCGGTAATTAA CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagTcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAgccggtaattaaAGATCGAGACCCGACGC chr7:33196229-Alternative-T;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Reference G atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt CACACGACACCT CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAcacacgacacctAGATCGAGACCCGACGC chr7:33196229-Reference-G;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Reference G atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt AGCTCTTAGCGG CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAagctcttagcggAGATCGAGACCCGACGC chr7:33196229-Reference-G;Patient-88 chr7:33196229-GA DeNovo Patient-88 intronic BBS9 0.000191 9.9e-05 0.3 7.23 2.63 BBS9 27076 Reference G atattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatactt GAGATCGTTAAC CGACGCGGTCTCTCTCTatattcttaggcagtctcttttcagggtgaagatcttttagatttccaagGcaggcttggtaacctggcgtggtatatggtagacatccagtaaatacttAGAGGGAGACGGACGTCTCAATAAgagatcgttaacAGATCGAGACCCGACGC chr7:33196229-Reference-G;Patient-88 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative A tcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt CACGACAGGTCA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAcacgacaggtcaAGATCGAGACCCGACGC chr7:35853564-Alternative-A;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative A tcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GTTAGGCGTATA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgttaggcgtataAGATCGAGACCCGACGC chr7:35853564-Alternative-A;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative A tcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt CGATGACATACG CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAcgatgacatacgAGATCGAGACCCGACGC chr7:35853564-Alternative-A;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Reference T tcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GCGGCTGTAACT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgcggctgtaactAGATCGAGACCCGACGC chr7:35853564-Reference-T;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative A tcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GGTCGGAACAAG CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAggtcggaacaagAGATCGAGACCCGACGC chr7:35853564-Alternative-A;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative A tcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GTTAACGCGATA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggAagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgttaacgcgataAGATCGAGACCCGACGC chr7:35853564-Alternative-A;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Reference T tcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt CGGAATAACGGC CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAcggaataacggcAGATCGAGACCCGACGC chr7:35853564-Reference-T;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Reference T tcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GTAGCGAGCGTT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgtagcgagcgttAGATCGAGACCCGACGC chr7:35853564-Reference-T;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Variant C tcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt ACCGTCTAACGG CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAaccgtctaacggAGATCGAGACCCGACGC chr7:35853564-Variant-C;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative G tcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GGTGTACTACTA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAggtgtactactaAGATCGAGACCCGACGC chr7:35853564-Alternative-G;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative G tcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt AATACCGGCGGT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAaataccggcggtAGATCGAGACCCGACGC chr7:35853564-Alternative-G;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative G tcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GCGCGAATTCCT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgcgcgaattcctAGATCGAGACCCGACGC chr7:35853564-Alternative-G;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative G tcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt ACTGGCATGTCG CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAactggcatgtcgAGATCGAGACCCGACGC chr7:35853564-Alternative-G;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Alternative G tcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt CTTGCATGTTGT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggGagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAActtgcatgttgtAGATCGAGACCCGACGC chr7:35853564-Alternative-G;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Variant C tcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt AGTGTTGAGTCT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAagtgttgagtctAGATCGAGACCCGACGC chr7:35853564-Variant-C;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Reference T tcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GGACGACAACGT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAggacgacaacgtAGATCGAGACCCGACGC chr7:35853564-Reference-T;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Reference T tcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt AATAGGCTAGCA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggTagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAaataggctagcaAGATCGAGACCCGACGC chr7:35853564-Reference-T;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Variant C tcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt GTCGTTGGACAC CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAgtcgttggacacAGATCGAGACCCGACGC chr7:35853564-Variant-C;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Variant C tcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt AAGTGGCATTGA CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAaagtggcattgaAGATCGAGACCCGACGC chr7:35853564-Variant-C;Patient-37 chr7:35853564-TC DeNovo Patient-37 intronic 43715 NA 4.95e-05 0.36 7.93 0.55 43715 12967 Variant C tcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcatt ACTGCTGTCTAT CGACGCGGTCTCTCTCTtcaataatgtattgatattatattactgtaacattgatgttaactattggCagtattgctgctaagtcattagtttagaacttcaacaacttcattcattAGAGGGAGACGGACGTCTCAATAAactgctgtctatAGATCGAGACCCGACGC chr7:35853564-Variant-C;Patient-37 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Variant G gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CAGCTCAAGTTA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAcagctcaagttaAGATCGAGACCCGACGC chr7:36454148-Variant-G;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Variant G gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GCACCATACGAT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgcaccatacgatAGATCGAGACCCGACGC chr7:36454148-Variant-G;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative A gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GATTAGCCTAAG CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgattagcctaagAGATCGAGACCCGACGC chr7:36454148-Alternative-A;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Reference C gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CACTTCGTAGCG CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAcacttcgtagcgAGATCGAGACCCGACGC chr7:36454148-Reference-C;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative A gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTAGAGCGTCCA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgtagagcgtccaAGATCGAGACCCGACGC chr7:36454148-Alternative-A;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Variant G gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CGAGATGCTAGG CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAcgagatgctaggAGATCGAGACCCGACGC chr7:36454148-Variant-G;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Reference C gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CTAACAGTTCGA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAActaacagttcgaAGATCGAGACCCGACGC chr7:36454148-Reference-C;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Variant G gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag AAGGTGCGGTGT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAaaggtgcggtgtAGATCGAGACCCGACGC chr7:36454148-Variant-G;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative A gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CTTAGTCAGTAC CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAActtagtcagtacAGATCGAGACCCGACGC chr7:36454148-Alternative-A;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Reference C gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag AGCTTAACGCCA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAagcttaacgccaAGATCGAGACCCGACGC chr7:36454148-Reference-C;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Variant G gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTTAGAGCGTAT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcGttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgttagagcgtatAGATCGAGACCCGACGC chr7:36454148-Variant-G;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Reference C gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTTCTGCGTCGT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgttctgcgtcgtAGATCGAGACCCGACGC chr7:36454148-Reference-C;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Reference C gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTTAGCAACGTT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcCttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgttagcaacgttAGATCGAGACCCGACGC chr7:36454148-Reference-C;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative T gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag ACCTTGGTTATC CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAaccttggttatcAGATCGAGACCCGACGC chr7:36454148-Alternative-T;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative T gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GCCACCGAAGAA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgccaccgaagaaAGATCGAGACCCGACGC chr7:36454148-Alternative-T;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative T gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag CGGATAGCACGA CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAcggatagcacgaAGATCGAGACCCGACGC chr7:36454148-Alternative-T;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative A gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag ACTACGCGGTTC CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAactacgcggttcAGATCGAGACCCGACGC chr7:36454148-Alternative-A;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative T gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTCTAGCGTATT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgtctagcgtattAGATCGAGACCCGACGC chr7:36454148-Alternative-T;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative T gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag GTGGCGTGCATT CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcTttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAgtggcgtgcattAGATCGAGACCCGACGC chr7:36454148-Alternative-T;Patient-53 chr7:36454148-CG DeNovo Patient-53 intronic ANLN NA 4.95e-05 -0.31 0.35 -2.4 ANLN 24715 Alternative A gatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagag ATACGTTCCGGC CGACGCGGTCTCTCTCTgatagcaaaaactgatggactttcttctgaaagctcctgttttattcatcAttaggaaagggaaggtgacaggggaaatactgtatggaggaaagaagagAGAGGGAGACGGACGTCTCAATAAatacgttccggcAGATCGAGACCCGACGC chr7:36454148-Alternative-A;Patient-53 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative G atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg CTATACGTTCAC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAActatacgttcacAGATCGAGACCCGACGC chr7:37437114-Alternative-G;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative G atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg CTTAGTCCGACC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAActtagtccgaccAGATCGAGACCCGACGC chr7:37437114-Alternative-G;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative G atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GTGTTAAGACGC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgtgttaagacgcAGATCGAGACCCGACGC chr7:37437114-Alternative-G;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative G atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GTGATCAGCGCA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgtgatcagcgcaAGATCGAGACCCGACGC chr7:37437114-Alternative-G;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Variant T atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GCGACGTTCCAA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgcgacgttccaaAGATCGAGACCCGACGC chr7:37437114-Variant-T;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Variant T atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg AGAGCAAGATGT CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAagagcaagatgtAGATCGAGACCCGACGC chr7:37437114-Variant-T;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Variant T atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg CAACACTGTCGG CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAcaacactgtcggAGATCGAGACCCGACGC chr7:37437114-Variant-T;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Variant T atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GATTACCACCGC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgattaccaccgcAGATCGAGACCCGACGC chr7:37437114-Variant-T;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Variant T atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GATAGTCCACTA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccTctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgatagtccactaAGATCGAGACCCGACGC chr7:37437114-Variant-T;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative G atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg ACCATTAGGTGT CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccGctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAaccattaggtgtAGATCGAGACCCGACGC chr7:37437114-Alternative-G;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative A atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg AAGGCACCGTGA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAaaggcaccgtgaAGATCGAGACCCGACGC chr7:37437114-Alternative-A;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Reference C atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GACGGAATACTA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgacggaatactaAGATCGAGACCCGACGC chr7:37437114-Reference-C;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Reference C atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg CGACTCATGACG CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAcgactcatgacgAGATCGAGACCCGACGC chr7:37437114-Reference-C;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative A atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg ACATCTACAGCA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAacatctacagcaAGATCGAGACCCGACGC chr7:37437114-Alternative-A;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative A atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg AGGTGAATAGTC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAaggtgaatagtcAGATCGAGACCCGACGC chr7:37437114-Alternative-A;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Reference C atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GCCGTATCATTA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgccgtatcattaAGATCGAGACCCGACGC chr7:37437114-Reference-C;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Reference C atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GTACCTGTTCAT CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgtacctgttcatAGATCGAGACCCGACGC chr7:37437114-Reference-C;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative A atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GCACCACTGTTC CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgcaccactgttcAGATCGAGACCCGACGC chr7:37437114-Alternative-A;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Reference C atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg GTCATCGTCATT CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccCctcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAgtcatcgtcattAGATCGAGACCCGACGC chr7:37437114-Reference-C;Patient-7 chr7:37437114-CT DeNovo Patient-7 intronic ELMO1 NA 0.00016 0.26 6.67 1.1 ELMO1 51780 Alternative A atgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtg CGCAGCGCATAA CGACGCGGTCTCTCTCTatgcacaaaaggcgttatggacagcatgcctgtgaagatgcagctggaccActcagatctatttgtctgtgatttccctttgggcagcatcacctctgtgAGAGGGAGACGGACGTCTCAATAAcgcagcgcataaAGATCGAGACCCGACGC chr7:37437114-Alternative-A;Patient-7 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Variant G ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacct CTGGCAGTAACC CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAActggcagtaaccAGATCGAGACCCGACGC chr7:37554667-Variant-G;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative T ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacct CTCTAACGTTCA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAActctaacgttcaAGATCGAGACCCGACGC chr7:37554667-Alternative-T;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative T ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacct AGATACATGCCT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAagatacatgcctAGATCGAGACCCGACGC chr7:37554667-Alternative-T;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Variant G ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacct AACTACCGGTTA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAaactaccggttaAGATCGAGACCCGACGC chr7:37554667-Variant-G;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative T ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacct ATAACGGCGTAA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAataacggcgtaaAGATCGAGACCCGACGC chr7:37554667-Alternative-T;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative T ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacct ACCGAAGCTCGT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAaccgaagctcgtAGATCGAGACCCGACGC chr7:37554667-Alternative-T;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative T ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacct AGCGGTCAGGTT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcTtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAagcggtcaggttAGATCGAGACCCGACGC chr7:37554667-Alternative-T;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Variant G ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacct GCAGAAGCTACA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAgcagaagctacaAGATCGAGACCCGACGC chr7:37554667-Variant-G;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Reference A ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacct GTTGATCTCGGC CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAgttgatctcggcAGATCGAGACCCGACGC chr7:37554667-Reference-A;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative C ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacct CGTAAGCGCTGA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAcgtaagcgctgaAGATCGAGACCCGACGC chr7:37554667-Alternative-C;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Reference A ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacct GTTCTAGTCGTT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAgttctagtcgttAGATCGAGACCCGACGC chr7:37554667-Reference-A;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Variant G ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacct CTGCATGGCTAA CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAActgcatggctaaAGATCGAGACCCGACGC chr7:37554667-Variant-G;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Reference A ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacct ACGGTGGTACCT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAacggtggtacctAGATCGAGACCCGACGC chr7:37554667-Reference-A;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Reference A ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacct GCGCACCTAGTT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAgcgcacctagttAGATCGAGACCCGACGC chr7:37554667-Reference-A;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Reference A ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacct AGCCGGAGTACT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcAtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAagccggagtactAGATCGAGACCCGACGC chr7:37554667-Reference-A;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Variant G ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacct CGCAGTATAACG CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcGtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAcgcagtataacgAGATCGAGACCCGACGC chr7:37554667-Variant-G;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative C ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacct AGCCTTAACCGC CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAagccttaaccgcAGATCGAGACCCGACGC chr7:37554667-Alternative-C;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative C ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacct ATACCAAGGAAC CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAataccaaggaacAGATCGAGACCCGACGC chr7:37554667-Alternative-C;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative C ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacct CTGAACGATACT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAActgaacgatactAGATCGAGACCCGACGC chr7:37554667-Alternative-C;Patient-62 chr7:37554667-AG DeNovo Patient-62 intergenic 0.000446 0.000513 -0.44 0.13 -6.77 ELMO1 65771 Alternative C ggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacct AGGACGAGCGTT CGACGCGGTCTCTCTCTggtagtattaactattttgttcttataaagattagggaaaatgtcttggcCtatatcaggggagcatcagatggtagttactataattacgactgcacctAGAGGGAGACGGACGTCTCAATAAaggacgagcgttAGATCGAGACCCGACGC chr7:37554667-Alternative-C;Patient-62 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative A gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CGTTGAGACAAC CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAcgttgagacaacAGATCGAGACCCGACGC chr7:38013828-Alternative-A;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Variant C gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GTAATCGGAGAA CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgtaatcggagaaAGATCGAGACCCGACGC chr7:38013828-Variant-C;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative A gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacag ACCTGATGGTAT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAacctgatggtatAGATCGAGACCCGACGC chr7:38013828-Alternative-A;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Variant C gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GAGCTCTAGCGT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgagctctagcgtAGATCGAGACCCGACGC chr7:38013828-Variant-C;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative A gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GTACTACACCTT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgtactacaccttAGATCGAGACCCGACGC chr7:38013828-Alternative-A;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative A gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GTAGAATGTGGT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgtagaatgtggtAGATCGAGACCCGACGC chr7:38013828-Alternative-A;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Variant C gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GCACGATTAACT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgcacgattaactAGATCGAGACCCGACGC chr7:38013828-Variant-C;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Variant C gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CGTCGGTTATGG CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAcgtcggttatggAGATCGAGACCCGACGC chr7:38013828-Variant-C;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative A gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GCAACATCAACC CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaAaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgcaacatcaaccAGATCGAGACCCGACGC chr7:38013828-Alternative-A;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Variant C gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CATTAGTAAGCG CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaCaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAcattagtaagcgAGATCGAGACCCGACGC chr7:38013828-Variant-C;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Reference T gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CTATGCGATAGT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAActatgcgatagtAGATCGAGACCCGACGC chr7:38013828-Reference-T;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Reference T gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GCGGACCGATAT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgcggaccgatatAGATCGAGACCCGACGC chr7:38013828-Reference-T;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Reference T gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GACGAATCGTAA CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgacgaatcgtaaAGATCGAGACCCGACGC chr7:38013828-Reference-T;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Reference T gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GATGCTTCATTC CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgatgcttcattcAGATCGAGACCCGACGC chr7:38013828-Reference-T;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Reference T gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacag GCAGTTAACGTT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaTaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAgcagttaacgttAGATCGAGACCCGACGC chr7:38013828-Reference-T;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative G gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacag ACCGATGGAGCA CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAaccgatggagcaAGATCGAGACCCGACGC chr7:38013828-Alternative-G;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative G gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CGTCCATACCGT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAcgtccataccgtAGATCGAGACCCGACGC chr7:38013828-Alternative-G;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative G gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CGGCGTCTTGAA CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAcggcgtcttgaaAGATCGAGACCCGACGC chr7:38013828-Alternative-G;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative G gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacag ACGTGACGGTCT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAAacgtgacggtctAGATCGAGACCCGACGC chr7:38013828-Alternative-G;Patient-82 chr7:38013828-TC DeNovo Patient-82 intergenic 3.2e-05 0.000512821 0.03 3.06 -2.03 SFRP4 57302 Alternative G gtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacag CTGAAGCGATAT CGACGCGGTCTCTCTCTgtatttagaatgtcagagcacgactaaggggtgtaggtggtcaaacctcaGaggggcatatgactaagctttcatttctgaacaatggtgataacaacagAGAGGGAGACGGACGTCTCAATAActgaagcgatatAGATCGAGACCCGACGC chr7:38013828-Alternative-G;Patient-82 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Variant A caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CTTGGAATGCGG CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAActtggaatgcggAGATCGAGACCCGACGC chr7:38643274-Variant-A;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Variant A caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CTCTAATGGCTT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAActctaatggcttAGATCGAGACCCGACGC chr7:38643274-Variant-A;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative T caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CATCATGCACCT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAcatcatgcacctAGATCGAGACCCGACGC chr7:38643274-Alternative-T;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Reference G caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc GTTAATGTGCGT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAgttaatgtgcgtAGATCGAGACCCGACGC chr7:38643274-Reference-G;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Reference G caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CGTTGATTACGA CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAcgttgattacgaAGATCGAGACCCGACGC chr7:38643274-Reference-G;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative T caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CGTGTCTCGTCA CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAcgtgtctcgtcaAGATCGAGACCCGACGC chr7:38643274-Alternative-T;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Reference G caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CTCGTCAATATC CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAActcgtcaatatcAGATCGAGACCCGACGC chr7:38643274-Reference-G;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Reference G caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CGGAGATCCTTC CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAcggagatccttcAGATCGAGACCCGACGC chr7:38643274-Reference-G;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Reference G caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc GTAATGCCACCG CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaGtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAgtaatgccaccgAGATCGAGACCCGACGC chr7:38643274-Reference-G;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative T caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc GGCTTGGATCGT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAggcttggatcgtAGATCGAGACCCGACGC chr7:38643274-Alternative-T;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative T caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc CGTACGAACCGT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAcgtacgaaccgtAGATCGAGACCCGACGC chr7:38643274-Alternative-T;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative C caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc GACCGTTAACCT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAgaccgttaacctAGATCGAGACCCGACGC chr7:38643274-Alternative-C;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative C caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc ACTCGCGATGCT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAactcgcgatgctAGATCGAGACCCGACGC chr7:38643274-Alternative-C;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative T caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc ACACGGATAACA CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaTtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAacacggataacaAGATCGAGACCCGACGC chr7:38643274-Alternative-T;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative C caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc ACACGCTGAATT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAacacgctgaattAGATCGAGACCCGACGC chr7:38643274-Alternative-C;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Variant A caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc ACGCGTCTTCGA CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAacgcgtcttcgaAGATCGAGACCCGACGC chr7:38643274-Variant-A;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative C caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc AAGAATGAAGCG CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAaagaatgaagcgAGATCGAGACCCGACGC chr7:38643274-Alternative-C;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Variant A caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc GATACTTCTCGT CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAgatacttctcgtAGATCGAGACCCGACGC chr7:38643274-Variant-A;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Alternative C caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc ATCTGTTGGCCG CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaCtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAatctgttggccgAGATCGAGACCCGACGC chr7:38643274-Alternative-C;Patient-85 chr7:38643274-GA DeNovo Patient-85 intronic AMPH NA 4.95e-05 -0.15 1 -2.7 AMPH 27892 Variant A caaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatcc AACAACAGGTCA CGACGCGGTCTCTCTCTcaaatggagttacatggagtgtgcagaagaagagccaggcctccatatcaAtcttccatggaggttctgaaacccagcatgccaagggcttgtcagatccAGAGGGAGACGGACGTCTCAATAAaacaacaggtcaAGATCGAGACCCGACGC chr7:38643274-Variant-A;Patient-85 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative C gtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ATTACCGCAGGT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAattaccgcaggtAGATCGAGACCCGACGC chr7:38912134-Alternative-C;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative C gtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GCGATATACTTC CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgcgatatacttcAGATCGAGACCCGACGC chr7:38912134-Alternative-C;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative T gtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CGCTGTAGATTA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAcgctgtagattaAGATCGAGACCCGACGC chr7:38912134-Alternative-T;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative T gtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GACCTGCAACGT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgacctgcaacgtAGATCGAGACCCGACGC chr7:38912134-Alternative-T;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative C gtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GTTCTGTGCATT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgttctgtgcattAGATCGAGACCCGACGC chr7:38912134-Alternative-C;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative T gtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GATGGTAGATAC CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgatggtagatacAGATCGAGACCCGACGC chr7:38912134-Alternative-T;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Variant A gtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GTGTATTGCCTT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgtgtattgccttAGATCGAGACCCGACGC chr7:38912134-Variant-A;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Variant A gtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ACCGACTGTCAA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAaccgactgtcaaAGATCGAGACCCGACGC chr7:38912134-Variant-A;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative T gtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ACTTCGCGGCTT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAacttcgcggcttAGATCGAGACCCGACGC chr7:38912134-Alternative-T;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Reference G gtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ACATAGCGAAGG CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAacatagcgaaggAGATCGAGACCCGACGC chr7:38912134-Reference-G;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative C gtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CATATGGCGATA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAcatatggcgataAGATCGAGACCCGACGC chr7:38912134-Alternative-C;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Reference G gtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ATCAAGGTTGCT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAatcaaggttgctAGATCGAGACCCGACGC chr7:38912134-Reference-G;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Reference G gtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CTTAGCTATTGC CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAActtagctattgcAGATCGAGACCCGACGC chr7:38912134-Reference-G;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Reference G gtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CGGTGTGATTCG CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAcggtgtgattcgAGATCGAGACCCGACGC chr7:38912134-Reference-G;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative C gtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ATCCGCGTACGA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcCgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAatccgcgtacgaAGATCGAGACCCGACGC chr7:38912134-Alternative-C;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Variant A gtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CGTTCTTCGTAA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAcgttcttcgtaaAGATCGAGACCCGACGC chr7:38912134-Variant-A;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Reference G gtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GCAATCTAGCGA CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcGgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgcaatctagcgaAGATCGAGACCCGACGC chr7:38912134-Reference-G;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Alternative T gtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa CTAGTACGGCAT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcTgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAActagtacggcatAGATCGAGACCCGACGC chr7:38912134-Alternative-T;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Variant A gtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa GCCGTAGTGAAC CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAgccgtagtgaacAGATCGAGACCCGACGC chr7:38912134-Variant-A;Patient-78 chr7:38912134-GA Inherited Patient-78 intronic VPS41 0.000414 4.95e-05 0.02 2.97 -0.43 VPS41 36665 Variant A gtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaa ATTCCTGGCCGT CGACGCGGTCTCTCTCTgtcttaaattcaattcccttgttatacataagctattagctgtttatttcAgatgcaagtattaaaaacaaagatgatatacctgttattaactttccaaAGAGGGAGACGGACGTCTCAATAAattcctggccgtAGATCGAGACCCGACGC chr7:38912134-Variant-A;Patient-78 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Reference G acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CGCTCTCTTAGG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAcgctctcttaggAGATCGAGACCCGACGC chr7:39676432-Reference-G;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Variant T acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GGTAACTACGCT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAggtaactacgctAGATCGAGACCCGACGC chr7:39676432-Variant-T;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Reference G acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CATTGCCGACAG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAcattgccgacagAGATCGAGACCCGACGC chr7:39676432-Reference-G;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Variant T acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GATGTCGTACTA CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAgatgtcgtactaAGATCGAGACCCGACGC chr7:39676432-Variant-T;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Variant T acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CAGGATATAGCA CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAcaggatatagcaAGATCGAGACCCGACGC chr7:39676432-Variant-T;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Reference G acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GTTACCGCGCAT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAgttaccgcgcatAGATCGAGACCCGACGC chr7:39676432-Reference-G;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Variant T acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc ACAATGGTGTCG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAacaatggtgtcgAGATCGAGACCCGACGC chr7:39676432-Variant-T;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Reference G acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CATGTGGTAACG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAcatgtggtaacgAGATCGAGACCCGACGC chr7:39676432-Reference-G;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Variant T acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CGGTACTGCTGT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgTagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAcggtactgctgtAGATCGAGACCCGACGC chr7:39676432-Variant-T;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Reference G acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GGTCTGGAGCTT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgGagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAggtctggagcttAGATCGAGACCCGACGC chr7:39676432-Reference-G;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative A acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GGCTTCGAAGAA CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAggcttcgaagaaAGATCGAGACCCGACGC chr7:39676432-Alternative-A;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative C acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CTGCGGACCATT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAActgcggaccattAGATCGAGACCCGACGC chr7:39676432-Alternative-C;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative A acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc GCGCTATCGACT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAgcgctatcgactAGATCGAGACCCGACGC chr7:39676432-Alternative-A;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative A acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc AATACGCAAGCA CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAaatacgcaagcaAGATCGAGACCCGACGC chr7:39676432-Alternative-A;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative A acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc AACCGTGCTCGA CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAaaccgtgctcgaAGATCGAGACCCGACGC chr7:39676432-Alternative-A;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative C acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CTCGTTCTGACG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAActcgttctgacgAGATCGAGACCCGACGC chr7:39676432-Alternative-C;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative C acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc AAGAATCGCAGT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAaagaatcgcagtAGATCGAGACCCGACGC chr7:39676432-Alternative-C;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative A acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc AGTAGCCATAAG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgAagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAagtagccataagAGATCGAGACCCGACGC chr7:39676432-Alternative-A;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative C acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc ACTGCTGTAGGT CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAAactgctgtaggtAGATCGAGACCCGACGC chr7:39676432-Alternative-C;Patient-37 chr7:39676432-GT Inherited Patient-37 intronic RALA 3.2e-05 0.00016 0 2.61 0.23 RALA 13279 Alternative C acaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatc CTAACAAGATGG CGACGCGGTCTCTCTCTacaatcatggcggaaagcaaaggggaagcaagcacattctcattatggtgCagcaggagagagacacgggggcaaggaagtgctacacttttaaaccatcAGAGGGAGACGGACGTCTCAATAActaacaagatggAGATCGAGACCCGACGC chr7:39676432-Alternative-C;Patient-37 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative C ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataatta ACAGGATTCGCA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAacaggattcgcaAGATCGAGACCCGACGC chr7:39912501-Alternative-C;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative C ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataatta CTGGCAATCAAG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAActggcaatcaagAGATCGAGACCCGACGC chr7:39912501-Alternative-C;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative C ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataatta AGGCGGATTACG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAaggcggattacgAGATCGAGACCCGACGC chr7:39912501-Alternative-C;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative C ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataatta CGTGAATTCGCG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAcgtgaattcgcgAGATCGAGACCCGACGC chr7:39912501-Alternative-C;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative A ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GTCCGGAATCGT CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgtccggaatcgtAGATCGAGACCCGACGC chr7:39912501-Alternative-A;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative A ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GACTGCGCGATA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgactgcgcgataAGATCGAGACCCGACGC chr7:39912501-Alternative-A;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Reference G ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GGAGGACAGCAA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAggaggacagcaaAGATCGAGACCCGACGC chr7:39912501-Reference-G;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Reference G ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataatta AGTTGAGAGTAC CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAagttgagagtacAGATCGAGACCCGACGC chr7:39912501-Reference-G;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Reference G ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GCAACGGCTAAG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgcaacggctaagAGATCGAGACCCGACGC chr7:39912501-Reference-G;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Reference G ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GGTGATATGGCG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAggtgatatggcgAGATCGAGACCCGACGC chr7:39912501-Reference-G;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Variant T ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataatta CTCTAAGCACCT CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAActctaagcacctAGATCGAGACCCGACGC chr7:39912501-Variant-T;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Reference G ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataatta CGGTCACTAAGT CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttGatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAcggtcactaagtAGATCGAGACCCGACGC chr7:39912501-Reference-G;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Variant T ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GCGTAGTCATTA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgcgtagtcattaAGATCGAGACCCGACGC chr7:39912501-Variant-T;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Variant T ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataatta ACTCCTACACCA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAactcctacaccaAGATCGAGACCCGACGC chr7:39912501-Variant-T;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative A ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GGATATCCGTAC CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAggatatccgtacAGATCGAGACCCGACGC chr7:39912501-Alternative-A;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative A ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataatta CACTAGCGCTGT CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAcactagcgctgtAGATCGAGACCCGACGC chr7:39912501-Alternative-A;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative A ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GCATTGGAACGG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttAatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgcattggaacggAGATCGAGACCCGACGC chr7:39912501-Alternative-A;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Variant T ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataatta ACAATGTCGAAG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAacaatgtcgaagAGATCGAGACCCGACGC chr7:39912501-Variant-T;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Variant T ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataatta GAAGAGATCACG CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttTatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAgaagagatcacgAGATCGAGACCCGACGC chr7:39912501-Variant-T;Patient-61 chr7:39912501-GT Inherited Patient-61 intergenic 0.000542 0.000513 -0.1 1.38 0.74 CDK13 77457 Alternative C ttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataatta ACTGCGAGGCTA CGACGCGGTCTCTCTCTttgaccataaatatgtgggtttattttgggattctcaattctaatatgttCatctatgtctatcatcatgccagtaccgaatctaattttaggataattaAGAGGGAGACGGACGTCTCAATAAactgcgaggctaAGATCGAGACCCGACGC chr7:39912501-Alternative-C;Patient-61 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Variant G agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GCCGATAGTAGG CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgccgatagtaggAGATCGAGACCCGACGC chr7:41676372-Variant-G;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative T agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc AGCCGACAGACA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAagccgacagacaAGATCGAGACCCGACGC chr7:41676372-Alternative-T;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative T agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc CGGATATCGCGA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAcggatatcgcgaAGATCGAGACCCGACGC chr7:41676372-Alternative-T;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Reference A agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ACATCTGCAACA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAacatctgcaacaAGATCGAGACCCGACGC chr7:41676372-Reference-A;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative T agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ACGCTTGATTGA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAacgcttgattgaAGATCGAGACCCGACGC chr7:41676372-Alternative-T;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Variant G agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ATCGATAGATCG CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAatcgatagatcgAGATCGAGACCCGACGC chr7:41676372-Variant-G;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Variant G agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ATAGGCGGATAA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAataggcggataaAGATCGAGACCCGACGC chr7:41676372-Variant-G;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative T agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GCGGCATACGTT CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgcggcatacgttAGATCGAGACCCGACGC chr7:41676372-Alternative-T;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Reference A agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GTGATCGCGAAC CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgtgatcgcgaacAGATCGAGACCCGACGC chr7:41676372-Reference-A;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Reference A agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GCACGATGCTGT CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgcacgatgctgtAGATCGAGACCCGACGC chr7:41676372-Reference-A;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Reference A agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc CATCGACCGCAT CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAcatcgaccgcatAGATCGAGACCCGACGC chr7:41676372-Reference-A;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Variant G agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ACATAAGCGCAA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAacataagcgcaaAGATCGAGACCCGACGC chr7:41676372-Variant-G;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Variant G agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GTAGATGTACGT CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatGggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgtagatgtacgtAGATCGAGACCCGACGC chr7:41676372-Variant-G;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative C agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc CAATTGGTCGGC CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAcaattggtcggcAGATCGAGACCCGACGC chr7:41676372-Alternative-C;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative T agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ACACGTCACAGG CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatTggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAacacgtcacaggAGATCGAGACCCGACGC chr7:41676372-Alternative-T;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Reference A agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc AGAATCGAACGG CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatAggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAagaatcgaacggAGATCGAGACCCGACGC chr7:41676372-Reference-A;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative C agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc ACCTAAGGTCGG CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAacctaaggtcggAGATCGAGACCCGACGC chr7:41676372-Alternative-C;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative C agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GACAACACGCGT CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgacaacacgcgtAGATCGAGACCCGACGC chr7:41676372-Alternative-C;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative C agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GAAGATGCCTAA CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAgaagatgcctaaAGATCGAGACCCGACGC chr7:41676372-Alternative-C;Patient-80 chr7:41676372-AG DeNovo Patient-80 intergenic NA 3.84e-05 0.02 2.91 0.24 INHBA 66333 Alternative C agtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaacc GGTTAGTGGTAC CGACGCGGTCTCTCTCTagtttataaggcctattgaatcacacaatcacaaggtaaggtcccacaatCggccgtcggcaagctgaggagcaaggaagccagtccgagtcccaaaaccAGAGGGAGACGGACGTCTCAATAAggttagtggtacAGATCGAGACCCGACGC chr7:41676372-Alternative-C;Patient-80 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative G gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga AGATCGCAAGAA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAagatcgcaagaaAGATCGAGACCCGACGC chr7:42244727-Alternative-G;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative G gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga CAATGCTTGGAT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAcaatgcttggatAGATCGAGACCCGACGC chr7:42244727-Alternative-G;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative G gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga CGGCATGTGAAC CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAcggcatgtgaacAGATCGAGACCCGACGC chr7:42244727-Alternative-G;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative G gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga AGGCTGCCATCA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAaggctgccatcaAGATCGAGACCCGACGC chr7:42244727-Alternative-G;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative A gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga ACTATCACGCGG CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAactatcacgcggAGATCGAGACCCGACGC chr7:42244727-Alternative-A;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative A gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GGACTTATCGCG CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAggacttatcgcgAGATCGAGACCCGACGC chr7:42244727-Alternative-A;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Reference T gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GTCATCTAACGA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgtcatctaacgaAGATCGAGACCCGACGC chr7:42244727-Reference-T;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative G gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GAAGATAAGACG CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaGagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgaagataagacgAGATCGAGACCCGACGC chr7:42244727-Alternative-G;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Variant C gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga ATAGTCAGACCT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAatagtcagacctAGATCGAGACCCGACGC chr7:42244727-Variant-C;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative A gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga ACCATGGCTGGT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAaccatggctggtAGATCGAGACCCGACGC chr7:42244727-Alternative-A;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Variant C gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GCATGAGATGAT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgcatgagatgatAGATCGAGACCCGACGC chr7:42244727-Variant-C;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Reference T gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga CGGTACACTTAA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAcggtacacttaaAGATCGAGACCCGACGC chr7:42244727-Reference-T;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative A gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GCGGTTATAACA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgcggttataacaAGATCGAGACCCGACGC chr7:42244727-Alternative-A;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Reference T gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga ACGTGTTAACAC CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAacgtgttaacacAGATCGAGACCCGACGC chr7:42244727-Reference-T;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Reference T gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga ATATAGTCGCGT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAatatagtcgcgtAGATCGAGACCCGACGC chr7:42244727-Reference-T;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Variant C gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga AGTTGACTACGT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAagttgactacgtAGATCGAGACCCGACGC chr7:42244727-Variant-C;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Alternative A gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga CGATATCGACCA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaAagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAcgatatcgaccaAGATCGAGACCCGACGC chr7:42244727-Alternative-A;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Reference T gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GTGCTTAGTAGT CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaTagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgtgcttagtagtAGATCGAGACCCGACGC chr7:42244727-Reference-T;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Variant C gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga CTCGGAACATGA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAActcggaacatgaAGATCGAGACCCGACGC chr7:42244727-Variant-C;Patient-92 chr7:42244727-TC Inherited Patient-92 intronic GLI3 0.000223 0.000198 -0.19 0.77 -4.22 GLI3 31890 Variant C gctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataaga GCGTAATTCGAA CGACGCGGTCTCTCTCTgctggaattacacctcagacggtgacacttcttatctttgaagggatgtaCagcctgctatgtggtgttcttaaaggtgtttgtgatactttttataagaAGAGGGAGACGGACGTCTCAATAAgcgtaattcgaaAGATCGAGACCCGACGC chr7:42244727-Variant-C;Patient-92 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative G acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactct ATCTATGGAGCG CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAatctatggagcgAGATCGAGACCCGACGC chr7:42964493-Alternative-G;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative G acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactct ACCGGAGCATCA CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAaccggagcatcaAGATCGAGACCCGACGC chr7:42964493-Alternative-G;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative G acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactct AGGCGATAGTCG CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAaggcgatagtcgAGATCGAGACCCGACGC chr7:42964493-Alternative-G;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative T acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactct CTAACAAGTCGT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAActaacaagtcgtAGATCGAGACCCGACGC chr7:42964493-Alternative-T;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative G acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactct GCGTACCGTACA CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgcgtaccgtacaAGATCGAGACCCGACGC chr7:42964493-Alternative-G;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative G acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactct GACAACAGGTAA CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttGacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgacaacaggtaaAGATCGAGACCCGACGC chr7:42964493-Alternative-G;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Reference A acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactct ATTATCGTTCGG CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAattatcgttcggAGATCGAGACCCGACGC chr7:42964493-Reference-A;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative T acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactct GACTAGGCCAAC CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgactaggccaacAGATCGAGACCCGACGC chr7:42964493-Alternative-T;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative T acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactct ATCCGATACGCG CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAatccgatacgcgAGATCGAGACCCGACGC chr7:42964493-Alternative-T;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Reference A acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactct GTCGTTCATATC CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgtcgttcatatcAGATCGAGACCCGACGC chr7:42964493-Reference-A;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Reference A acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactct AACAGCTCGAGT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAaacagctcgagtAGATCGAGACCCGACGC chr7:42964493-Reference-A;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Variant C acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactct GCAACAACAGTT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgcaacaacagttAGATCGAGACCCGACGC chr7:42964493-Variant-C;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Variant C acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactct CTCTCACGCATT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAActctcacgcattAGATCGAGACCCGACGC chr7:42964493-Variant-C;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative T acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactct CTTAATCGGCTT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAActtaatcggcttAGATCGAGACCCGACGC chr7:42964493-Alternative-T;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Variant C acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactct ACTGGCAGTTCG CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAactggcagttcgAGATCGAGACCCGACGC chr7:42964493-Variant-C;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Variant C acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactct CGACGACATAGT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAcgacgacatagtAGATCGAGACCCGACGC chr7:42964493-Variant-C;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Alternative T acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactct CGGTGCGTGTAA CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttTacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAcggtgcgtgtaaAGATCGAGACCCGACGC chr7:42964493-Alternative-T;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Reference A acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactct GTGCGGACAACT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgtgcggacaactAGATCGAGACCCGACGC chr7:42964493-Reference-A;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Variant C acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactct CGTGGTTCAAGA CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttCacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAcgtggttcaagaAGATCGAGACCCGACGC chr7:42964493-Variant-C;Patient-91 chr7:42964493-AC Inherited Patient-91 intronic PSMA2 0.000255 0.000544393 0.04 3.21 -2.85 PSMA2 7311 Reference A acctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactct GAATCGGATGAT CGACGCGGTCTCTCTCTacctgaagactcattctccttttacaggcatgtacctgcagcacaagtttAacatgtatctctttaatggtggctattggatcaaagctagtcttactctAGAGGGAGACGGACGTCTCAATAAgaatcggatgatAGATCGAGACCCGACGC chr7:42964493-Reference-A;Patient-91 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Reference C gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GTGCTATAACAC CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAgtgctataacacAGATCGAGACCCGACGC chr7:44117551-Reference-C;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Reference C gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CTATATCTGTCG CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAActatatctgtcgAGATCGAGACCCGACGC chr7:44117551-Reference-C;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Reference C gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ATTGCGTAGCAT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAattgcgtagcatAGATCGAGACCCGACGC chr7:44117551-Reference-C;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Reference C gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ACCGACGCTTCT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAaccgacgcttctAGATCGAGACCCGACGC chr7:44117551-Reference-C;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative G gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GAGGTTCAGCGA CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAgaggttcagcgaAGATCGAGACCCGACGC chr7:44117551-Alternative-G;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative G gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CTCGGTGCGTAT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAActcggtgcgtatAGATCGAGACCCGACGC chr7:44117551-Alternative-G;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative G gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GGTCTGACACGT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAggtctgacacgtAGATCGAGACCCGACGC chr7:44117551-Alternative-G;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative A gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CAAGCAGTGTGG CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAcaagcagtgtggAGATCGAGACCCGACGC chr7:44117551-Alternative-A;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative A gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CGTAAGTGACGG CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAcgtaagtgacggAGATCGAGACCCGACGC chr7:44117551-Alternative-A;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative G gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc AACGCGCTAACC CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAaacgcgctaaccAGATCGAGACCCGACGC chr7:44117551-Alternative-G;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative A gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc AGATCAGTCGTT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAagatcagtcgttAGATCGAGACCCGACGC chr7:44117551-Alternative-A;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Variant T gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CGCTGACTTATA CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAcgctgacttataAGATCGAGACCCGACGC chr7:44117551-Variant-T;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Variant T gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc CGGATAGTATGT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAcggatagtatgtAGATCGAGACCCGACGC chr7:44117551-Variant-T;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Variant T gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ACAACGCAGTAA CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAacaacgcagtaaAGATCGAGACCCGACGC chr7:44117551-Variant-T;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative G gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GTGTTGAGGCGT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaGggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAgtgttgaggcgtAGATCGAGACCCGACGC chr7:44117551-Alternative-G;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative A gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GTCAACGACGAG CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAgtcaacgacgagAGATCGAGACCCGACGC chr7:44117551-Alternative-A;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Variant T gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc GTAATAGCCACT CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAgtaatagccactAGATCGAGACCCGACGC chr7:44117551-Variant-T;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Variant T gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ACTCGGTGTACG CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaTggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAactcggtgtacgAGATCGAGACCCGACGC chr7:44117551-Variant-T;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Alternative A gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ATTGCCTCTGAC CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaAggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAattgcctctgacAGATCGAGACCCGACGC chr7:44117551-Alternative-A;Patient-81 chr7:44117551-CT DeNovo Patient-81 intronic POLM NA 9.9e-05 -0.7 0.02 -5.05 POLM 4577 Reference C gcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggc ATCAACCTGGAC CGACGCGGTCTCTCTCTgcagaagggtgtcaaagcaggcacacccgaggcatccaaaagaactcagaCggcatttccctatcagaccaggagtgagcagaaacagagggaaggtggcAGAGGGAGACGGACGTCTCAATAAatcaacctggacAGATCGAGACCCGACGC chr7:44117551-Reference-C;Patient-81 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative C ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CGTTCACATGAA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAcgttcacatgaaAGATCGAGACCCGACGC chr7:44341387-Alternative-C;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative C ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GCCGAAGCAAGA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgccgaagcaagaAGATCGAGACCCGACGC chr7:44341387-Alternative-C;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative C ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CAACTGCGTAAT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAcaactgcgtaatAGATCGAGACCCGACGC chr7:44341387-Alternative-C;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative C ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CGTCAACGGCAT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAcgtcaacggcatAGATCGAGACCCGACGC chr7:44341387-Alternative-C;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative A ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CTAATGTCGAGT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAActaatgtcgagtAGATCGAGACCCGACGC chr7:44341387-Alternative-A;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative A ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta ACCTAATACGCA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAacctaatacgcaAGATCGAGACCCGACGC chr7:44341387-Alternative-A;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative A ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CGAACGCTAGAT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAcgaacgctagatAGATCGAGACCCGACGC chr7:44341387-Alternative-A;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative A ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GTTCGTACACTT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgttcgtacacttAGATCGAGACCCGACGC chr7:44341387-Alternative-A;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative A ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GATTACGCATCA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaAaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgattacgcatcaAGATCGAGACCCGACGC chr7:44341387-Alternative-A;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Variant T ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GTATCATGGCTA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgtatcatggctaAGATCGAGACCCGACGC chr7:44341387-Variant-T;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Variant T ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GTTATCTTCCGA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgttatcttccgaAGATCGAGACCCGACGC chr7:44341387-Variant-T;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Variant T ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GGATCGGCGAAT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAggatcggcgaatAGATCGAGACCCGACGC chr7:44341387-Variant-T;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Variant T ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta ATTCTCCGTAGT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAattctccgtagtAGATCGAGACCCGACGC chr7:44341387-Variant-T;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Variant T ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta CGCGAAGTACCA CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaTaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAcgcgaagtaccaAGATCGAGACCCGACGC chr7:44341387-Variant-T;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Reference G ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GGCTTCGCCATT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAggcttcgccattAGATCGAGACCCGACGC chr7:44341387-Reference-G;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Reference G ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta AGATCACGCACG CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAagatcacgcacgAGATCGAGACCCGACGC chr7:44341387-Reference-G;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Reference G ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta AACGAACCGAGT CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAaacgaaccgagtAGATCGAGACCCGACGC chr7:44341387-Reference-G;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Reference G ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GCAGTATATTCG CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAgcagtatattcgAGATCGAGACCCGACGC chr7:44341387-Reference-G;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Reference G ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta ACAACGGATCGG CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaGaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAacaacggatcggAGATCGAGACCCGACGC chr7:44341387-Reference-G;Patient-30 chr7:44341387-GT Inherited Patient-30 intronic CAMK2B 0.00047 4.95e-05 NA NA NA CAMK2B 23842 Alternative C ctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccacctta GGCGACATGTTC CGACGCGGTCTCTCTCTctgcactccagcctggtgacagagcaagactccatctcagaaaaaaaaaaCaaaagaagaaaatagaaatctaaaatcagtaatttaagcttccaccttaAGAGGGAGACGGACGTCTCAATAAggcgacatgttcAGATCGAGACCCGACGC chr7:44341387-Alternative-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Variant C aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ATTGAGATGCCT CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAattgagatgcctAGATCGAGACCCGACGC chr7:44341530-Variant-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Variant C aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GGCTTCGATGCA CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAggcttcgatgcaAGATCGAGACCCGACGC chr7:44341530-Variant-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative G aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GGTTGCGATAGG CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAggttgcgataggAGATCGAGACCCGACGC chr7:44341530-Alternative-G;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative G aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ATCGGCTATAGA CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAatcggctatagaAGATCGAGACCCGACGC chr7:44341530-Alternative-G;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Variant C aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ACATGTTGGAAC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAacatgttggaacAGATCGAGACCCGACGC chr7:44341530-Variant-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Variant C aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc CAACGTGAACGG CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAcaacgtgaacggAGATCGAGACCCGACGC chr7:44341530-Variant-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Variant C aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc AACTAAGCGCGC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaCactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAaactaagcgcgcAGATCGAGACCCGACGC chr7:44341530-Variant-C;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Reference A aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GCGGAATGGCTT CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAgcggaatggcttAGATCGAGACCCGACGC chr7:44341530-Reference-A;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative G aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GGCTCTCGTTGT CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAggctctcgttgtAGATCGAGACCCGACGC chr7:44341530-Alternative-G;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative G aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc CGACGTGCTAAC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAcgacgtgctaacAGATCGAGACCCGACGC chr7:44341530-Alternative-G;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative G aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc AACAATACGTCC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaGactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAaacaatacgtccAGATCGAGACCCGACGC chr7:44341530-Alternative-G;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative T aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc AACGCAAGTCAT CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAaacgcaagtcatAGATCGAGACCCGACGC chr7:44341530-Alternative-T;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative T aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ACAGATTACAGG CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAacagattacaggAGATCGAGACCCGACGC chr7:44341530-Alternative-T;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Reference A aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GGTTATTGGTGG CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAggttattggtggAGATCGAGACCCGACGC chr7:44341530-Reference-A;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Reference A aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ATCGCATAACAC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAatcgcataacacAGATCGAGACCCGACGC chr7:44341530-Reference-A;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Reference A aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc CGCTTATATCGC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAcgcttatatcgcAGATCGAGACCCGACGC chr7:44341530-Reference-A;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Reference A aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc AGTACGTTATGC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaAactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAagtacgttatgcAGATCGAGACCCGACGC chr7:44341530-Reference-A;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative T aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GATTCCACTATC CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAgattccactatcAGATCGAGACCCGACGC chr7:44341530-Alternative-T;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative T aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc ATTGGAATCGGT CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAattggaatcggtAGATCGAGACCCGACGC chr7:44341530-Alternative-T;Patient-30 chr7:44341530-AC Inherited Patient-30 intronic CAMK2B 0.000893 4.95e-05 NA NA NA CAMK2B 23699 Alternative T aaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatc GAATGGTTACGA CGACGCGGTCTCTCTCTaaaaaaagaataaaaactagagtgtaaatcaatgaattgtgcaaacaagaTactgatacagaaaatcaacaaagccaacagctagttctttgagaagatcAGAGGGAGACGGACGTCTCAATAAgaatggttacgaAGATCGAGACCCGACGC chr7:44341530-Alternative-T;Patient-30 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative C ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CGTCTAAGCGGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcgtctaagcggtAGATCGAGACCCGACGC chr7:44590888-Alternative-C;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Variant A ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat ACAGATTACCGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAacagattaccgtAGATCGAGACCCGACGC chr7:44590888-Variant-A;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative C ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CAAGATGCTAAG CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcaagatgctaagAGATCGAGACCCGACGC chr7:44590888-Alternative-C;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative C ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat AGGCTAACTCAT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAaggctaactcatAGATCGAGACCCGACGC chr7:44590888-Alternative-C;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Variant A ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CGCAATTAACCT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcgcaattaacctAGATCGAGACCCGACGC chr7:44590888-Variant-A;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Variant A ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GGCGAATATATC CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAggcgaatatatcAGATCGAGACCCGACGC chr7:44590888-Variant-A;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative C ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CTCATCGGAATA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAActcatcggaataAGATCGAGACCCGACGC chr7:44590888-Alternative-C;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative C ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat AGCCACCACATA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcCacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAagccaccacataAGATCGAGACCCGACGC chr7:44590888-Alternative-C;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Variant A ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CTAAGTATCGAC CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAActaagtatcgacAGATCGAGACCCGACGC chr7:44590888-Variant-A;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative T ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GGATAGGAACGG CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAggataggaacggAGATCGAGACCCGACGC chr7:44590888-Alternative-T;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative T ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GAGTCCATGCGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAgagtccatgcgtAGATCGAGACCCGACGC chr7:44590888-Alternative-T;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Variant A ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CGTGTGATACTT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcAacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcgtgtgatacttAGATCGAGACCCGACGC chr7:44590888-Variant-A;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Reference G ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GGACCATAGATA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAggaccatagataAGATCGAGACCCGACGC chr7:44590888-Reference-G;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative T ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GTAATACGAGGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAgtaatacgaggtAGATCGAGACCCGACGC chr7:44590888-Alternative-T;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Reference G ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat GTTAGACCACGA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAgttagaccacgaAGATCGAGACCCGACGC chr7:44590888-Reference-G;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Reference G ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat ATAAGCGTTGGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAataagcgttggtAGATCGAGACCCGACGC chr7:44590888-Reference-G;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative T ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CGATCTGCTACC CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcgatctgctaccAGATCGAGACCCGACGC chr7:44590888-Alternative-T;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Alternative T ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat AACGTGCATTCA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcTacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAaacgtgcattcaAGATCGAGACCCGACGC chr7:44590888-Alternative-T;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Reference G ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CAGCTTGGCAGT CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcagcttggcagtAGATCGAGACCCGACGC chr7:44590888-Reference-G;Patient-85 chr7:44590888-GA DeNovo Patient-85 intergenic NA 0.000512821 -0.02 2.33 0 DDX56 23248 Reference G ttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtat CAACCTGAACGA CGACGCGGTCTCTCTCTttctttcaagtgcatatggaatattcctcaggacagacagtacgttaggcGacaaaacaagccttgttatattttaaataattaaaatcatagaaagtatAGAGGGAGACGGACGTCTCAATAAcaacctgaacgaAGATCGAGACCCGACGC chr7:44590888-Reference-G;Patient-85 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative G caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CTCTGCGCTTGT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAActctgcgcttgtAGATCGAGACCCGACGC chr7:44633537-Alternative-G;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative G caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CTGGTGATTAGT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAActggtgattagtAGATCGAGACCCGACGC chr7:44633537-Alternative-G;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative G caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGATAGCCGCAT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcgatagccgcatAGATCGAGACCCGACGC chr7:44633537-Alternative-G;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative G caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGCAATAACACT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcgcaataacactAGATCGAGACCCGACGC chr7:44633537-Alternative-G;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative G caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGCTAGCCTTGT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataGtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcgctagccttgtAGATCGAGACCCGACGC chr7:44633537-Alternative-G;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Variant T caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGCTCATGGCTT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcgctcatggcttAGATCGAGACCCGACGC chr7:44633537-Variant-T;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Variant T caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata GAATGGTCGTAA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAgaatggtcgtaaAGATCGAGACCCGACGC chr7:44633537-Variant-T;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Variant T caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata AGGAACTCCACG CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAaggaactccacgAGATCGAGACCCGACGC chr7:44633537-Variant-T;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Variant T caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata GGCGTAATACTA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAggcgtaatactaAGATCGAGACCCGACGC chr7:44633537-Variant-T;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative A caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata ACTTCTAAGCGA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAacttctaagcgaAGATCGAGACCCGACGC chr7:44633537-Alternative-A;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative A caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGTGAACAGTAA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcgtgaacagtaaAGATCGAGACCCGACGC chr7:44633537-Alternative-A;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Reference C caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata ACCTAGTTGCTT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAacctagttgcttAGATCGAGACCCGACGC chr7:44633537-Reference-C;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative A caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata ACTAGGTTCACA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAactaggttcacaAGATCGAGACCCGACGC chr7:44633537-Alternative-A;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Reference C caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CTAGCCGGACTT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAActagccggacttAGATCGAGACCCGACGC chr7:44633537-Reference-C;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Variant T caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata GTCGTCTATCGC CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataTtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAgtcgtctatcgcAGATCGAGACCCGACGC chr7:44633537-Variant-T;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative A caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata ACTTGTTCGTCA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAacttgttcgtcaAGATCGAGACCCGACGC chr7:44633537-Alternative-A;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Reference C caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata CGGAGATGCTGT CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAcggagatgctgtAGATCGAGACCCGACGC chr7:44633537-Reference-C;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Reference C caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata ACGCAGTTAGAA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAacgcagttagaaAGATCGAGACCCGACGC chr7:44633537-Reference-C;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Reference C caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata GGTAGGAGATCA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataCtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAggtaggagatcaAGATCGAGACCCGACGC chr7:44633537-Reference-C;Patient-54 chr7:44633537-CT Inherited Patient-54 intergenic NA 0.000513 1.31 14.95 0.16 OGDH 12583 Alternative A caaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaata GCAGTGTAATGA CGACGCGGTCTCTCTCTcaaatatttgttgaatgaatatggaatgtatactttaatgaaaaatcataAtgagcaaaagttatgggatgtagttaaaggcagtgttcaaagggaaataAGAGGGAGACGGACGTCTCAATAAgcagtgtaatgaAGATCGAGACCCGACGC chr7:44633537-Alternative-A;Patient-54 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative G agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc CAGGTAAGAGGT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAcaggtaagaggtAGATCGAGACCCGACGC chr7:44856661-Alternative-G;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative G agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc ACAACGCAACCA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAacaacgcaaccaAGATCGAGACCCGACGC chr7:44856661-Alternative-G;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Variant T agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc ATAACACACGAG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAataacacacgagAGATCGAGACCCGACGC chr7:44856661-Variant-T;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative G agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GTAAGGCGGAGA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAgtaaggcggagaAGATCGAGACCCGACGC chr7:44856661-Alternative-G;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Variant T agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc AAGATAGTCGCA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAaagatagtcgcaAGATCGAGACCCGACGC chr7:44856661-Variant-T;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative G agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc CAAGCGCTGCAA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAcaagcgctgcaaAGATCGAGACCCGACGC chr7:44856661-Alternative-G;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Variant T agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc ACGAACTGCTGT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAacgaactgctgtAGATCGAGACCCGACGC chr7:44856661-Variant-T;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative G agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc CTGAAGACTGCG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccGaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAActgaagactgcgAGATCGAGACCCGACGC chr7:44856661-Alternative-G;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Reference C agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc AGTGCCGGTTCT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAagtgccggttctAGATCGAGACCCGACGC chr7:44856661-Reference-C;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative A agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc AGATTACGGAGT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAagattacggagtAGATCGAGACCCGACGC chr7:44856661-Alternative-A;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Variant T agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc CTAAGAATCGGT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAActaagaatcggtAGATCGAGACCCGACGC chr7:44856661-Variant-T;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative A agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GGATCTTCCAAG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAggatcttccaagAGATCGAGACCCGACGC chr7:44856661-Alternative-A;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Variant T agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc AACACCTACAAC CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccTaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAaacacctacaacAGATCGAGACCCGACGC chr7:44856661-Variant-T;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Reference C agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GATGTAACGGCG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAgatgtaacggcgAGATCGAGACCCGACGC chr7:44856661-Reference-C;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative A agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc AGACCACACGAA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAagaccacacgaaAGATCGAGACCCGACGC chr7:44856661-Alternative-A;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Reference C agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GGAGGTTCCAAG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAggaggttccaagAGATCGAGACCCGACGC chr7:44856661-Reference-C;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Reference C agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GCCGGAGATAGT CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAgccggagatagtAGATCGAGACCCGACGC chr7:44856661-Reference-C;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Reference C agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GATACTCAAGTC CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccCaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAgatactcaagtcAGATCGAGACCCGACGC chr7:44856661-Reference-C;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative A agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc GGTGAACAACTA CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAggtgaacaactaAGATCGAGACCCGACGC chr7:44856661-Alternative-A;Patient-76 chr7:44856661-CT DeNovo Patient-76 intergenic NA 0.000513 0.35 7.8 0.15 H2AFV 31063 Alternative A agctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctc ACTTCCATGGCG CGACGCGGTCTCTCTCTagctaatttttttgtatttttagcaaagacagggtttcaccacgttggccAaggctgatcttgaactcctgacctcaggtgatccacctgccttggcctcAGAGGGAGACGGACGTCTCAATAAacttccatggcgAGATCGAGACCCGACGC chr7:44856661-Alternative-A;Patient-76 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative T gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa AGGCGAGCTGAA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggcgagctgaaAGATCGAGACCCGACGC chr7:44862333-Alternative-T;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Variant A gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GAAGTTGACAAG CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgaagttgacaagAGATCGAGACCCGACGC chr7:44862333-Variant-A;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Reference C gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ACGTTGATGAAC CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacgttgatgaacAGATCGAGACCCGACGC chr7:44862333-Reference-C;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Reference C gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa AATCGTGTAGGT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaatcgtgtaggtAGATCGAGACCCGACGC chr7:44862333-Reference-C;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Variant A gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa AGGTACATCACG CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaggtacatcacgAGATCGAGACCCGACGC chr7:44862333-Variant-A;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Variant A gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa CGACACATAACG CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgacacataacgAGATCGAGACCCGACGC chr7:44862333-Variant-A;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Reference C gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa CGATGCATGTCA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcgatgcatgtcaAGATCGAGACCCGACGC chr7:44862333-Reference-C;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Variant A gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GCGCGAATCGAT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgcgcgaatcgatAGATCGAGACCCGACGC chr7:44862333-Variant-A;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Variant A gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GGATAAGGAGAT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaAcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggataaggagatAGATCGAGACCCGACGC chr7:44862333-Variant-A;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Reference C gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GGCGCACCATTA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggcgcaccattaAGATCGAGACCCGACGC chr7:44862333-Reference-C;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Reference C gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ACCGAGTACTTA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaCcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaccgagtacttaAGATCGAGACCCGACGC chr7:44862333-Reference-C;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative G gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GGCCGAAGAATT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAggccgaagaattAGATCGAGACCCGACGC chr7:44862333-Alternative-G;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative T gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa CTTGGTCAGCCA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAActtggtcagccaAGATCGAGACCCGACGC chr7:44862333-Alternative-T;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative T gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa AAGACGCCGAAT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAaagacgccgaatAGATCGAGACCCGACGC chr7:44862333-Alternative-T;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative T gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa GACGGCGTCATT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAgacggcgtcattAGATCGAGACCCGACGC chr7:44862333-Alternative-T;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative T gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ATTACCGGACTA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaTcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAattaccggactaAGATCGAGACCCGACGC chr7:44862333-Alternative-T;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative G gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ACTGTTCAGGAT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAactgttcaggatAGATCGAGACCCGACGC chr7:44862333-Alternative-G;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative G gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ACACGCTGACGT CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAacacgctgacgtAGATCGAGACCCGACGC chr7:44862333-Alternative-G;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative G gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa CACGTGATCTAA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAcacgtgatctaaAGATCGAGACCCGACGC chr7:44862333-Alternative-G;Patient-99 chr7:44862333-CA DeNovo Patient-99 intergenic NA 0.000513 0.06 3.56 0.31 H2AFV 25391 Alternative G gagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaa ATAAGGTCACGA CGACGCGGTCTCTCTCTgagaatcgcttgaacctgggtggcagaggttgcagtgagccgagattgcaGcactgcactccagcctgggtgacagagtgagactgcctcaaaaaaaaaaAGAGGGAGACGGACGTCTCAATAAataaggtcacgaAGATCGAGACCCGACGC chr7:44862333-Alternative-G;Patient-99 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Reference G cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GCAGCATTCCAT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgcagcattccatAGATCGAGACCCGACGC chr7:44870637-Reference-G;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Variant C cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga AGCTGAAGCGTC CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAagctgaagcgtcAGATCGAGACCCGACGC chr7:44870637-Variant-C;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Variant C cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GATGACGATCTT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgatgacgatcttAGATCGAGACCCGACGC chr7:44870637-Variant-C;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Reference G cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga ATAGGTCGTGGT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAataggtcgtggtAGATCGAGACCCGACGC chr7:44870637-Reference-G;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Reference G cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GCGGCTAATGAG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgcggctaatgagAGATCGAGACCCGACGC chr7:44870637-Reference-G;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Reference G cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CGAACATCGTCC CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcgaacatcgtccAGATCGAGACCCGACGC chr7:44870637-Reference-G;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Reference G cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CAAGACGAGCAT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagGcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcaagacgagcatAGATCGAGACCCGACGC chr7:44870637-Reference-G;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative T cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GGTAGTAGTACA CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAggtagtagtacaAGATCGAGACCCGACGC chr7:44870637-Alternative-T;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Variant C cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga AACGCCACAATT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAaacgccacaattAGATCGAGACCCGACGC chr7:44870637-Variant-C;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Variant C cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CAGCTACTGGAC CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcagctactggacAGATCGAGACCCGACGC chr7:44870637-Variant-C;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative A cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GTACAAGGTATC CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgtacaaggtatcAGATCGAGACCCGACGC chr7:44870637-Alternative-A;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative T cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GGCTATATGCCG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAggctatatgccgAGATCGAGACCCGACGC chr7:44870637-Alternative-T;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Variant C cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CATTATAGGCGA CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagCcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcattataggcgaAGATCGAGACCCGACGC chr7:44870637-Variant-C;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative A cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga ATCTTACGATCG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAatcttacgatcgAGATCGAGACCCGACGC chr7:44870637-Alternative-A;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative A cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GTAGTCTCCTAT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgtagtctcctatAGATCGAGACCCGACGC chr7:44870637-Alternative-A;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative A cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga AAGGCCGTATCG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAaaggccgtatcgAGATCGAGACCCGACGC chr7:44870637-Alternative-A;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative T cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga GTCTCTTGTCGG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAgtctcttgtcggAGATCGAGACCCGACGC chr7:44870637-Alternative-T;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative T cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CGGCTGAATCGT CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcggctgaatcgtAGATCGAGACCCGACGC chr7:44870637-Alternative-T;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative T cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga CGTATGACGGAG CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagTcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAcgtatgacggagAGATCGAGACCCGACGC chr7:44870637-Alternative-T;Patient-57 chr7:44870637-GC DeNovo Patient-57 intronic H2AFV NA 4.95e-05 -0.03 2.18 0.46 H2AFV 17087 Alternative A cagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttga ACTCTCGGCGAA CGACGCGGTCTCTCTCTcagaaacaaaaacaaaagaacaaacaaacattagccaggcatggtggcagAcacctgtaatgccagctactcaggaggctgaggcagaagaatcacttgaAGAGGGAGACGGACGTCTCAATAAactctcggcgaaAGATCGAGACCCGACGC chr7:44870637-Alternative-A;Patient-57 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative T agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct ATAGCCTGACAT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAatagcctgacatAGATCGAGACCCGACGC chr7:45165808-Alternative-T;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Variant G agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct ATAAGCCTGACC CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAataagcctgaccAGATCGAGACCCGACGC chr7:45165808-Variant-G;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Variant G agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GTTATTGTTGCG CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAgttattgttgcgAGATCGAGACCCGACGC chr7:45165808-Variant-G;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Variant G agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GGTACGTTGTGC CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAggtacgttgtgcAGATCGAGACCCGACGC chr7:45165808-Variant-G;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Variant G agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CACGTCCTATGT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcacgtcctatgtAGATCGAGACCCGACGC chr7:45165808-Variant-G;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Variant G agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct AACACTAGGCGC CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacGtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAaacactaggcgcAGATCGAGACCCGACGC chr7:45165808-Variant-G;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative A agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CGACAGTTAAGA CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcgacagttaagaAGATCGAGACCCGACGC chr7:45165808-Alternative-A;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative A agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct AATGCGGTCGAG CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAaatgcggtcgagAGATCGAGACCCGACGC chr7:45165808-Alternative-A;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Reference C agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GGCGAATCGCTA CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAggcgaatcgctaAGATCGAGACCCGACGC chr7:45165808-Reference-C;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative T agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct ACTCACACCATT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAactcacaccattAGATCGAGACCCGACGC chr7:45165808-Alternative-T;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative T agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CAACTAGTATGC CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcaactagtatgcAGATCGAGACCCGACGC chr7:45165808-Alternative-T;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative A agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct ACCTGGATAAGA CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAacctggataagaAGATCGAGACCCGACGC chr7:45165808-Alternative-A;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative T agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct AGCTCGAAGATA CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAagctcgaagataAGATCGAGACCCGACGC chr7:45165808-Alternative-T;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative T agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GTAATCGTATCG CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacTtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAgtaatcgtatcgAGATCGAGACCCGACGC chr7:45165808-Alternative-T;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative A agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GATATTGGTCGT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAgatattggtcgtAGATCGAGACCCGACGC chr7:45165808-Alternative-A;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Reference C agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct AACCGCCGAACT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAaaccgccgaactAGATCGAGACCCGACGC chr7:45165808-Reference-C;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Alternative A agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CAGCGAGGCTAT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacAtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcagcgaggctatAGATCGAGACCCGACGC chr7:45165808-Alternative-A;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Reference C agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CGACCGACCTAT CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcgaccgacctatAGATCGAGACCCGACGC chr7:45165808-Reference-C;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Reference C agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct CGAAGATTACCA CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAcgaagattaccaAGATCGAGACCCGACGC chr7:45165808-Reference-C;Patient-105 chr7:45165808-CG DeNovo Patient-105 intergenic NA 3.85e-05 -0.47 0.11 -2.97 RAMP3 31558 Reference C agtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactct GCAATGTCGTTC CGACGCGGTCTCTCTCTagtctcctctgtttctctcttccccattcctgtcgccaaaccaccaggacCtgtggtgccttgggttccaccagaagcagagatcaggcaggaggactctAGAGGGAGACGGACGTCTCAATAAgcaatgtcgttcAGATCGAGACCCGACGC chr7:45165808-Reference-C;Patient-105 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative G gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GATCCATTGGCG CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgatccattggcgAGATCGAGACCCGACGC chr7:45555991-Alternative-G;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative G gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagc AGGCGAATATGT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAaggcgaatatgtAGATCGAGACCCGACGC chr7:45555991-Alternative-G;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative G gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagc CGTCGCTCCAAT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAcgtcgctccaatAGATCGAGACCCGACGC chr7:45555991-Alternative-G;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative G gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagc CTCTGATTGGTT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAActctgattggttAGATCGAGACCCGACGC chr7:45555991-Alternative-G;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Reference T gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GCGCGAGATTCA CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgcgcgagattcaAGATCGAGACCCGACGC chr7:45555991-Reference-T;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Reference T gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagc CGGTCCGAAGAA CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAcggtccgaagaaAGATCGAGACCCGACGC chr7:45555991-Reference-T;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative G gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GATACGCTCTAA CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacGaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgatacgctctaaAGATCGAGACCCGACGC chr7:45555991-Alternative-G;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative A gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagc AAGATTAGGTCG CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAaagattaggtcgAGATCGAGACCCGACGC chr7:45555991-Alternative-A;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Variant C gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GGTCAGGTACAC CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAggtcaggtacacAGATCGAGACCCGACGC chr7:45555991-Variant-C;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Reference T gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GATAATCTGCCA CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgataatctgccaAGATCGAGACCCGACGC chr7:45555991-Reference-T;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Variant C gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GGAATTGTCTAC CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAggaattgtctacAGATCGAGACCCGACGC chr7:45555991-Variant-C;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Variant C gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagc ACCTACGACGGT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAacctacgacggtAGATCGAGACCCGACGC chr7:45555991-Variant-C;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative A gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GCATTGTTCGTT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgcattgttcgttAGATCGAGACCCGACGC chr7:45555991-Alternative-A;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Variant C gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagc ACACGATCCAAT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAacacgatccaatAGATCGAGACCCGACGC chr7:45555991-Variant-C;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Reference T gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GTGCGCTTATGG CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgtgcgcttatggAGATCGAGACCCGACGC chr7:45555991-Reference-T;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative A gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GATGGTATGCAC CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgatggtatgcacAGATCGAGACCCGACGC chr7:45555991-Alternative-A;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative A gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagc CTGGTCGTTCAC CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAActggtcgttcacAGATCGAGACCCGACGC chr7:45555991-Alternative-A;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Alternative A gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagc AATCAACCAGTC CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacAaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAaatcaaccagtcAGATCGAGACCCGACGC chr7:45555991-Alternative-A;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Reference T gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagc CGTAGTTCGCAG CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacTaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAcgtagttcgcagAGATCGAGACCCGACGC chr7:45555991-Reference-T;Patient-19 chr7:45555991-TC DeNovo Patient-19 intergenic NA 0.000513 -0.26 0.49 -2.53 ADCY1 58133 Variant C gcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagc GCCGTAGAGCAT CGACGCGGTCTCTCTCTgcaaataatagcagatggatagggaagtagatgagaatttgaagtaccacCaaaccagtgataggttcctgttctattttcttccttgctatccccaagcAGAGGGAGACGGACGTCTCAATAAgccgtagagcatAGATCGAGACCCGACGC chr7:45555991-Variant-C;Patient-19 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Variant A ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CGTCTAATGGAT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcgtctaatggatAGATCGAGACCCGACGC chr7:45663397-Variant-A;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative C ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CAACCTTAGCTA CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcaaccttagctaAGATCGAGACCCGACGC chr7:45663397-Alternative-C;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Variant A ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg ACGATAGCGCGT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAacgatagcgcgtAGATCGAGACCCGACGC chr7:45663397-Variant-A;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Variant A ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg GTTACACGTTCA CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAgttacacgttcaAGATCGAGACCCGACGC chr7:45663397-Variant-A;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative C ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg GTCGATTCCGCT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAgtcgattccgctAGATCGAGACCCGACGC chr7:45663397-Alternative-C;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative C ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CATCGACACGTC CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcatcgacacgtcAGATCGAGACCCGACGC chr7:45663397-Alternative-C;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative C ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg ACAGACTATCGT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAacagactatcgtAGATCGAGACCCGACGC chr7:45663397-Alternative-C;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Variant A ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg AGTTCGCCAATA CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAagttcgccaataAGATCGAGACCCGACGC chr7:45663397-Variant-A;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative T ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg ATCAACCGACGT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAatcaaccgacgtAGATCGAGACCCGACGC chr7:45663397-Alternative-T;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative T ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg GACCACACGCTA CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAgaccacacgctaAGATCGAGACCCGACGC chr7:45663397-Alternative-T;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Variant A ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg AGGAGGAGTAAT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcAaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAaggaggagtaatAGATCGAGACCCGACGC chr7:45663397-Variant-A;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative T ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CTCGCTGCGATT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAActcgctgcgattAGATCGAGACCCGACGC chr7:45663397-Alternative-T;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative C ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg AGGTAATGCGAT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcCaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAaggtaatgcgatAGATCGAGACCCGACGC chr7:45663397-Alternative-C;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Reference G ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CAGTAGATCGAT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcagtagatcgatAGATCGAGACCCGACGC chr7:45663397-Reference-G;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative T ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg GTGGCGCTTGTT CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAgtggcgcttgttAGATCGAGACCCGACGC chr7:45663397-Alternative-T;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Reference G ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg ACACCGCGTATC CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAacaccgcgtatcAGATCGAGACCCGACGC chr7:45663397-Reference-G;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Alternative T ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg GGATAGCGCGAA CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcTaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAggatagcgcgaaAGATCGAGACCCGACGC chr7:45663397-Alternative-T;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Reference G ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CGGTAATGCGAC CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcggtaatgcgacAGATCGAGACCCGACGC chr7:45663397-Reference-G;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Reference G ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg CGTATCCGTAGG CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAcgtatccgtaggAGATCGAGACCCGACGC chr7:45663397-Reference-G;Patient-87 chr7:45663397-GA Inherited Patient-87 intronic ADCY1 NA 4.95e-05 -0.85 0.01 -1.39 ADCY1 49271 Reference G ggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtg ACTTCCGGATCG CGACGCGGTCTCTCTCTggtcggcttctgcagacaactgaccatgggcacaggaagtctcctctttcGaagagggaaggggaggagggagtccggtgtcaggagagcccaggatgtgAGAGGGAGACGGACGTCTCAATAAacttccggatcgAGATCGAGACCCGACGC chr7:45663397-Reference-G;Patient-87 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Reference G ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc AGGCGTCAATAA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAaggcgtcaataaAGATCGAGACCCGACGC chr7:46045770-Reference-G;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Reference G ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc CGGCGTTACCAT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAcggcgttaccatAGATCGAGACCCGACGC chr7:46045770-Reference-G;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Reference G ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTACCGAAGTTA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgtaccgaagttaAGATCGAGACCCGACGC chr7:46045770-Reference-G;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Reference G ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc ATTGACTGGAAC CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAattgactggaacAGATCGAGACCCGACGC chr7:46045770-Reference-G;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Reference G ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GGCTATCCAACG CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggGtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAggctatccaacgAGATCGAGACCCGACGC chr7:46045770-Reference-G;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Variant T ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc CGTACTGCTCGT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAcgtactgctcgtAGATCGAGACCCGACGC chr7:46045770-Variant-T;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Variant T ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTATATGAACGG CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgtatatgaacggAGATCGAGACCCGACGC chr7:46045770-Variant-T;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Variant T ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc CACTTCTGGATT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAcacttctggattAGATCGAGACCCGACGC chr7:46045770-Variant-T;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative A ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GGCGTGTCTGTT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAggcgtgtctgttAGATCGAGACCCGACGC chr7:46045770-Alternative-A;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative C ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc AATAATCCGTGG CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAaataatccgtggAGATCGAGACCCGACGC chr7:46045770-Alternative-C;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Variant T ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTATCCTGCGCA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgtatcctgcgcaAGATCGAGACCCGACGC chr7:46045770-Variant-T;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Variant T ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTGTCACGACCA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggTtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgtgtcacgaccaAGATCGAGACCCGACGC chr7:46045770-Variant-T;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative A ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc CTCAATGCGTGA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAActcaatgcgtgaAGATCGAGACCCGACGC chr7:46045770-Alternative-A;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative C ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc ATTGATCGGCTT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAattgatcggcttAGATCGAGACCCGACGC chr7:46045770-Alternative-C;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative A ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc CGGCATACGTGT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAcggcatacgtgtAGATCGAGACCCGACGC chr7:46045770-Alternative-A;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative C ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTACGTATGCCA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgtacgtatgccaAGATCGAGACCCGACGC chr7:46045770-Alternative-C;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative A ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc ATAGCTGGTTGT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAatagctggttgtAGATCGAGACCCGACGC chr7:46045770-Alternative-A;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative A ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GTTGTGCAGATT CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggAtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAgttgtgcagattAGATCGAGACCCGACGC chr7:46045770-Alternative-A;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative C ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc GGTCGTGATCCA CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAggtcgtgatccaAGATCGAGACCCGACGC chr7:46045770-Alternative-C;Patient-22 chr7:46045770-GT Inherited Patient-22 intergenic NA 0.000513 -0.4 0.18 -1.74 IGFBP3 84898 Alternative C ttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctc ATTACTCCGGCG CGACGCGGTCTCTCTCTttggacttccagcctctggaacagtaaggaacaaatgttggctgtttaggCtgcccaggtaatttgttatgggagcccaggctaagatatgcaccttctcAGAGGGAGACGGACGTCTCAATAAattactccggcgAGATCGAGACCCGACGC chr7:46045770-Alternative-C;Patient-22 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative T tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacct AATGTAGGCAGT CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAaatgtaggcagtAGATCGAGACCCGACGC chr7:4648048-Alternative-T;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Reference G tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GAATGGTCGATA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgaatggtcgataAGATCGAGACCCGACGC chr7:4648048-Reference-G;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Variant A tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CAATAGGTTCCA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAcaataggttccaAGATCGAGACCCGACGC chr7:4648048-Variant-A;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Variant A tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GACCGCTTGCTA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgaccgcttgctaAGATCGAGACCCGACGC chr7:4648048-Variant-A;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative T tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacct ACACCAACAGCT CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAacaccaacagctAGATCGAGACCCGACGC chr7:4648048-Alternative-T;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Reference G tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CTCTCACGAACC CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAActctcacgaaccAGATCGAGACCCGACGC chr7:4648048-Reference-G;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Variant A tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GACAAGGTATGA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgacaaggtatgaAGATCGAGACCCGACGC chr7:4648048-Variant-A;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Variant A tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacct AAGGCCGACGTT CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAaaggccgacgttAGATCGAGACCCGACGC chr7:4648048-Variant-A;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative T tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacct AGTCGCATAAGA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAagtcgcataagaAGATCGAGACCCGACGC chr7:4648048-Alternative-T;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Reference G tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GATCATGGCCGA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgatcatggccgaAGATCGAGACCCGACGC chr7:4648048-Reference-G;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Variant A tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GGTTGTAACCGC CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcAattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAggttgtaaccgcAGATCGAGACCCGACGC chr7:4648048-Variant-A;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative T tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CGCGTATCGTCA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAcgcgtatcgtcaAGATCGAGACCCGACGC chr7:4648048-Alternative-T;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Reference G tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CAAGCGACGTGA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAcaagcgacgtgaAGATCGAGACCCGACGC chr7:4648048-Reference-G;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Reference G tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CGCGTTCCATGA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcGattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAcgcgttccatgaAGATCGAGACCCGACGC chr7:4648048-Reference-G;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative T tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GTTGGACAGATA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcTattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgttggacagataAGATCGAGACCCGACGC chr7:4648048-Alternative-T;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative C tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacct AGTCGCCAATTA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAagtcgccaattaAGATCGAGACCCGACGC chr7:4648048-Alternative-C;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative C tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacct CGTCGTATCATT CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAcgtcgtatcattAGATCGAGACCCGACGC chr7:4648048-Alternative-C;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative C tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GAGTTAGACATC CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgagttagacatcAGATCGAGACCCGACGC chr7:4648048-Alternative-C;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative C tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GAGCATACCTTA CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgagcataccttaAGATCGAGACCCGACGC chr7:4648048-Alternative-C;Patient-35 chr7:4648048-GA DeNovo Patient-35 intergenic 0.000255 0.001536885 0.12 4.58 0 FOXK1 73891 Alternative C tagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacct GTTCCAACAAGG CGACGCGGTCTCTCTCTtagcttgatctcagctcgctcactgcaacctccgcctcctgggttcaagcCattctgctgcctcagcctcaccagcagctgggactacaagcacacacctAGAGGGAGACGGACGTCTCAATAAgttccaacaaggAGATCGAGACCCGACGC chr7:4648048-Alternative-C;Patient-35 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Reference G catctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CAGACGTTACGC CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAcagacgttacgcAGATCGAGACCCGACGC chr7:4708870-Reference-G;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Reference G catctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CTTGGTATGGAG CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAActtggtatggagAGATCGAGACCCGACGC chr7:4708870-Reference-G;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Reference G catctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga AGCTGCGTATCG CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAagctgcgtatcgAGATCGAGACCCGACGC chr7:4708870-Reference-G;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Reference G catctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GATTAGATGACG CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgattagatgacgAGATCGAGACCCGACGC chr7:4708870-Reference-G;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Reference G catctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GATCGACTAGAA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattGgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgatcgactagaaAGATCGAGACCCGACGC chr7:4708870-Reference-G;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Variant T catctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga AGTGTACCGCGT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAagtgtaccgcgtAGATCGAGACCCGACGC chr7:4708870-Variant-T;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Variant T catctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga ACTTCACTTACG CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAacttcacttacgAGATCGAGACCCGACGC chr7:4708870-Variant-T;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Variant T catctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga ACCACACGGCAA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAaccacacggcaaAGATCGAGACCCGACGC chr7:4708870-Variant-T;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative A catctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GAATAATGACCG CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgaataatgaccgAGATCGAGACCCGACGC chr7:4708870-Alternative-A;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Variant T catctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CACGCGGTTATT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAcacgcggttattAGATCGAGACCCGACGC chr7:4708870-Variant-T;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative A catctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CGATGACGCAGA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAcgatgacgcagaAGATCGAGACCCGACGC chr7:4708870-Alternative-A;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative A catctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GCATGGTATCGC CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgcatggtatcgcAGATCGAGACCCGACGC chr7:4708870-Alternative-A;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative A catctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CGTCTGTGTTAT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAcgtctgtgttatAGATCGAGACCCGACGC chr7:4708870-Alternative-A;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Variant T catctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GTTGGCGTGGAA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattTgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgttggcgtggaaAGATCGAGACCCGACGC chr7:4708870-Variant-T;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative C catctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga CGAGTCGTGACT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAcgagtcgtgactAGATCGAGACCCGACGC chr7:4708870-Alternative-C;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative C catctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GAGGTTGCAATA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgaggttgcaataAGATCGAGACCCGACGC chr7:4708870-Alternative-C;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative C catctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GATGTAACGCTA CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgatgtaacgctaAGATCGAGACCCGACGC chr7:4708870-Alternative-C;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative C catctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga AGCGGCATCGTT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAagcggcatcgttAGATCGAGACCCGACGC chr7:4708870-Alternative-C;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative A catctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga ACGACACGGTCT CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattAgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAacgacacggtctAGATCGAGACCCGACGC chr7:4708870-Alternative-A;Patient-87 chr7:4708870-GT Inherited Patient-87 intergenic 0.000371 0.00256 -0.65 0.03 -0.71 FOXK1 13069 Alternative C catctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctga GTGTCGACACAC CGACGCGGTCTCTCTCTcatctcaaaatatatatatagatatatagatatatatctatatatatattCgccgagtgtggaggcgggtgcctctaatctcagctgcttgggaggctgaAGAGGGAGACGGACGTCTCAATAAgtgtcgacacacAGATCGAGACCCGACGC chr7:4708870-Alternative-C;Patient-87 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative A gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GGTGACTTCCGA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAggtgacttccgaAGATCGAGACCCGACGC chr7:47563316-Alternative-A;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative A gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc CGCAGTAGATAA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAcgcagtagataaAGATCGAGACCCGACGC chr7:47563316-Alternative-A;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative A gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTCGTACTGAAT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgtcgtactgaatAGATCGAGACCCGACGC chr7:47563316-Alternative-A;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Variant C gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc AGCATGCACATC CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAagcatgcacatcAGATCGAGACCCGACGC chr7:47563316-Variant-C;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative A gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GAGTCTCCATAA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgagtctccataaAGATCGAGACCCGACGC chr7:47563316-Alternative-A;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Reference T gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc CTAGCTGTAGAT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAActagctgtagatAGATCGAGACCCGACGC chr7:47563316-Reference-T;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Variant C gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GACATTGAGTAC CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgacattgagtacAGATCGAGACCCGACGC chr7:47563316-Variant-C;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative A gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc AATAAGAGAGCG CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaAggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAaataagagagcgAGATCGAGACCCGACGC chr7:47563316-Alternative-A;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Reference T gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTTCATTCTGCA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgttcattctgcaAGATCGAGACCCGACGC chr7:47563316-Reference-T;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Reference T gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc CGCTGCGTATGT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAcgctgcgtatgtAGATCGAGACCCGACGC chr7:47563316-Reference-T;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Reference T gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GCAATCGAGAAG CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgcaatcgagaagAGATCGAGACCCGACGC chr7:47563316-Reference-T;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Variant C gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc AGCGCTGACACT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAagcgctgacactAGATCGAGACCCGACGC chr7:47563316-Variant-C;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Variant C gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTGACTTAGGTT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgtgacttaggttAGATCGAGACCCGACGC chr7:47563316-Variant-C;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Variant C gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GACGCTAGCAGA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaCggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgacgctagcagaAGATCGAGACCCGACGC chr7:47563316-Variant-C;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Reference T gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc AGTATCCGGATA CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaTggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAagtatccggataAGATCGAGACCCGACGC chr7:47563316-Reference-T;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative G gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc CATGACGATAAG CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAcatgacgataagAGATCGAGACCCGACGC chr7:47563316-Alternative-G;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative G gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTGATGAACCTT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgtgatgaaccttAGATCGAGACCCGACGC chr7:47563316-Alternative-G;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative G gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GGCTAGCGCATT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAggctagcgcattAGATCGAGACCCGACGC chr7:47563316-Alternative-G;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative G gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTATCTGCAAGT CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgtatctgcaagtAGATCGAGACCCGACGC chr7:47563316-Alternative-G;Patient-75 chr7:47563316-TC DeNovo Patient-75 intronic TNS3 NA 4.95e-05 0.05 3.39 0.13 TNS3 58425 Alternative G gcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctacc GTGTCGAAGACG CGACGCGGTCTCTCTCTgcaaaggttttccttcatctgggccagttcctggttccttctcctgataaGggacctcctgccatgaactcaacaggacatgcagcttcccaagcctaccAGAGGGAGACGGACGTCTCAATAAgtgtcgaagacgAGATCGAGACCCGACGC chr7:47563316-Alternative-G;Patient-75 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Variant C taaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CAGTAAGAGTCT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcagtaagagtctAGATCGAGACCCGACGC chr7:5215347-Variant-C;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative G taaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GTTCCACTGTCG CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAgttccactgtcgAGATCGAGACCCGACGC chr7:5215347-Alternative-G;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Variant C taaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CTGCTAGGATGC CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAActgctaggatgcAGATCGAGACCCGACGC chr7:5215347-Variant-C;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Variant C taaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc ACTGTGCCAGTC CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAactgtgccagtcAGATCGAGACCCGACGC chr7:5215347-Variant-C;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative G taaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CGTGGAACAACG CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcgtggaacaacgAGATCGAGACCCGACGC chr7:5215347-Alternative-G;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Variant C taaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CATCACGTTATC CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcatcacgttatcAGATCGAGACCCGACGC chr7:5215347-Variant-C;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Variant C taaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GGAACTTGTTCA CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggCgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAggaacttgttcaAGATCGAGACCCGACGC chr7:5215347-Variant-C;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative G taaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc AACGCTGCGACT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAaacgctgcgactAGATCGAGACCCGACGC chr7:5215347-Alternative-G;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative A taaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GTTCGAGGTAGG CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAgttcgaggtaggAGATCGAGACCCGACGC chr7:5215347-Alternative-A;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative A taaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc AGCGGAGTGAAT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAagcggagtgaatAGATCGAGACCCGACGC chr7:5215347-Alternative-A;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Reference T taaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CGTAATGCAAGA CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcgtaatgcaagaAGATCGAGACCCGACGC chr7:5215347-Reference-T;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative G taaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GTAATTCGCAGT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAgtaattcgcagtAGATCGAGACCCGACGC chr7:5215347-Alternative-G;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative G taaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CGTTGCTCTCCT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggGgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcgttgctctcctAGATCGAGACCCGACGC chr7:5215347-Alternative-G;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Reference T taaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc CGGACAAGACCT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAcggacaagacctAGATCGAGACCCGACGC chr7:5215347-Reference-T;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative A taaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc ATTGCGATGCAT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAattgcgatgcatAGATCGAGACCCGACGC chr7:5215347-Alternative-A;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Reference T taaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GTCAGAAGCATC CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAgtcagaagcatcAGATCGAGACCCGACGC chr7:5215347-Reference-T;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Reference T taaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc AACTTCAACCGT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAaacttcaaccgtAGATCGAGACCCGACGC chr7:5215347-Reference-T;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Reference T taaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc ACGCTATGGTAT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggTgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAacgctatggtatAGATCGAGACCCGACGC chr7:5215347-Reference-T;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative A taaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc ATTCGTGTTGCT CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAattcgtgttgctAGATCGAGACCCGACGC chr7:5215347-Alternative-A;Patient-16 chr7:5215347-TC DeNovo Patient-16 intergenic 9.6e-05 0.000513 0.73 11.33 0.92 WIPI2 14487 Alternative A taaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaacc GTATCATGCGAA CGACGCGGTCTCTCTCTtaaaaatattaaaagatcacattaagggttgattctgcttatggctggggAgggaacggcatttccatacagggttagaggcctgtacattagtgcaaccAGAGGGAGACGGACGTCTCAATAAgtatcatgcgaaAGATCGAGACCCGACGC chr7:5215347-Alternative-A;Patient-16 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative G atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GTGTAACCAAGA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgtgtaaccaagaAGATCGAGACCCGACGC chr7:5236079-Alternative-G;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative G atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc CAATAAGCAGCA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAcaataagcagcaAGATCGAGACCCGACGC chr7:5236079-Alternative-G;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Reference T atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc ATTACGTCGTTC CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAattacgtcgttcAGATCGAGACCCGACGC chr7:5236079-Reference-T;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative G atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc ACGCGGATCCAA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAacgcggatccaaAGATCGAGACCCGACGC chr7:5236079-Alternative-G;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Reference T atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GTGGCGTGTTCT CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgtggcgtgttctAGATCGAGACCCGACGC chr7:5236079-Reference-T;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Reference T atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc CGATACTCTGCT CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAcgatactctgctAGATCGAGACCCGACGC chr7:5236079-Reference-T;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative G atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc CTTGAATCCGGC CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAActtgaatccggcAGATCGAGACCCGACGC chr7:5236079-Alternative-G;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative A atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc ACGTCGCTTAGG CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAacgtcgcttaggAGATCGAGACCCGACGC chr7:5236079-Alternative-A;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative G atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GATGGAGAGCAT CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctGaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgatggagagcatAGATCGAGACCCGACGC chr7:5236079-Alternative-G;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Reference T atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc ACGTACTATGCT CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAacgtactatgctAGATCGAGACCCGACGC chr7:5236079-Reference-T;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Reference T atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GAATGCCACGCT CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctTaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgaatgccacgctAGATCGAGACCCGACGC chr7:5236079-Reference-T;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative A atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc AAGCGCGACTTC CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAaagcgcgacttcAGATCGAGACCCGACGC chr7:5236079-Alternative-A;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Variant C atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc AAGCGGATGACG CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAaagcggatgacgAGATCGAGACCCGACGC chr7:5236079-Variant-C;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative A atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GATCGTTAACAC CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgatcgttaacacAGATCGAGACCCGACGC chr7:5236079-Alternative-A;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Variant C atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc ACATAGGCTGAA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAacataggctgaaAGATCGAGACCCGACGC chr7:5236079-Variant-C;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Variant C atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc AGCACGAATCGG CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAagcacgaatcggAGATCGAGACCCGACGC chr7:5236079-Variant-C;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative A atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc AATGGCATACGA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAaatggcatacgaAGATCGAGACCCGACGC chr7:5236079-Alternative-A;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Alternative A atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GTTGACGCGCAA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctAaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgttgacgcgcaaAGATCGAGACCCGACGC chr7:5236079-Alternative-A;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Variant C atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc CGGTAAGCGAGA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAcggtaagcgagaAGATCGAGACCCGACGC chr7:5236079-Variant-C;Patient-77 chr7:5236079-TC DeNovo Patient-77 intronic WIPI2 NA 4.95e-05 NA NA NA WIPI2 6243 Variant C atggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagc GAGTCAAGTACA CGACGCGGTCTCTCTCTatggtatatatatctcaaaaaatatttggaatatttttgtttccctttctCaacggattggaatgcacagttttgtaaactgtggggttaaacttctagcAGAGGGAGACGGACGTCTCAATAAgagtcaagtacaAGATCGAGACCCGACGC chr7:5236079-Variant-C;Patient-77 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative A tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ACTCTAGTACCT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAactctagtacctAGATCGAGACCCGACGC chr7:54780529-Alternative-A;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative G tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt GTCGTATCATTC CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAgtcgtatcattcAGATCGAGACCCGACGC chr7:54780529-Alternative-G;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative A tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ACTAACCTGGAC CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAactaacctggacAGATCGAGACCCGACGC chr7:54780529-Alternative-A;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative G tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt GCGAGCCTTAGT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAgcgagccttagtAGATCGAGACCCGACGC chr7:54780529-Alternative-G;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Reference T tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt GGTTAAGTTCGT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAggttaagttcgtAGATCGAGACCCGACGC chr7:54780529-Reference-T;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative G tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ATCCGTTGCCTA CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAatccgttgcctaAGATCGAGACCCGACGC chr7:54780529-Alternative-G;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Reference T tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CTTGGTTCCAGG CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAActtggttccaggAGATCGAGACCCGACGC chr7:54780529-Reference-T;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative A tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CATCATAGAGCT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAcatcatagagctAGATCGAGACCCGACGC chr7:54780529-Alternative-A;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative A tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CTCTATCGGCAG CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAActctatcggcagAGATCGAGACCCGACGC chr7:54780529-Alternative-A;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative G tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt AGTGCGGAACGA CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAagtgcggaacgaAGATCGAGACCCGACGC chr7:54780529-Alternative-G;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Reference T tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt GTAATTCTTGCG CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAgtaattcttgcgAGATCGAGACCCGACGC chr7:54780529-Reference-T;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative G tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt AGATATACGTGG CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccGggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAagatatacgtggAGATCGAGACCCGACGC chr7:54780529-Alternative-G;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Alternative A tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CGATCGTGCGAT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccAggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAcgatcgtgcgatAGATCGAGACCCGACGC chr7:54780529-Alternative-A;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Reference T tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ATTGGAGGTCTT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAattggaggtcttAGATCGAGACCCGACGC chr7:54780529-Reference-T;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Variant C tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ACTCATGGTACG CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAactcatggtacgAGATCGAGACCCGACGC chr7:54780529-Variant-C;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Variant C tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt ATCGCAAGATCA CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAatcgcaagatcaAGATCGAGACCCGACGC chr7:54780529-Variant-C;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Reference T tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt AAGTATCAGCGA CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccTggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAaagtatcagcgaAGATCGAGACCCGACGC chr7:54780529-Reference-T;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Variant C tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CGAACATAGCTT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAcgaacatagcttAGATCGAGACCCGACGC chr7:54780529-Variant-C;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Variant C tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt GCGAAGAATATC CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAAgcgaagaatatcAGATCGAGACCCGACGC chr7:54780529-Variant-C;Patient-19 chr7:54780529-TC DeNovo Patient-19 intergenic 6.4e-05 0.000513 -0.01 2.43 -1.34 SEC61G 46409 Variant C tggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggtt CTCGGTGAGGTT CGACGCGGTCTCTCTCTtggatttgtccagaatttaggacttaaaattagtcctagatcttggacccCggtgctgtgcctttgactataatcaggggtttgcaccctatctgtggttAGAGGGAGACGGACGTCTCAATAActcggtgaggttAGATCGAGACCCGACGC chr7:54780529-Variant-C;Patient-19 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Reference C gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GTTACGTACCTT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAgttacgtaccttAGATCGAGACCCGACGC chr7:54808645-Reference-C;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Reference C gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GCATGCCTAGAT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAgcatgcctagatAGATCGAGACCCGACGC chr7:54808645-Reference-C;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Reference C gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CAGCTATCGTGC CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAcagctatcgtgcAGATCGAGACCCGACGC chr7:54808645-Reference-C;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Reference C gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GGTGTAAGTAGT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAggtgtaagtagtAGATCGAGACCCGACGC chr7:54808645-Reference-C;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Reference C gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg AGATGAATCGCG CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccCtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAagatgaatcgcgAGATCGAGACCCGACGC chr7:54808645-Reference-C;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Variant A gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg ATAACGACTCGT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAataacgactcgtAGATCGAGACCCGACGC chr7:54808645-Variant-A;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Variant A gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CGTCCATTCCGA CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAcgtccattccgaAGATCGAGACCCGACGC chr7:54808645-Variant-A;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative G gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CTGGTAGCTAAT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAActggtagctaatAGATCGAGACCCGACGC chr7:54808645-Alternative-G;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative T gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CTTATCCGTTGT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAActtatccgttgtAGATCGAGACCCGACGC chr7:54808645-Alternative-T;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Variant A gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GACTGACGTACT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAgactgacgtactAGATCGAGACCCGACGC chr7:54808645-Variant-A;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative G gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg AAGGTAATCGCA CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAaaggtaatcgcaAGATCGAGACCCGACGC chr7:54808645-Alternative-G;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative G gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg AATAACGGACGT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAaataacggacgtAGATCGAGACCCGACGC chr7:54808645-Alternative-G;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Variant A gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg AAGGTTCATCGC CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAaaggttcatcgcAGATCGAGACCCGACGC chr7:54808645-Variant-A;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative G gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GGAGGACGACTT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAggaggacgacttAGATCGAGACCCGACGC chr7:54808645-Alternative-G;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative T gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GTTCTATCACCA CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAgttctatcaccaAGATCGAGACCCGACGC chr7:54808645-Alternative-T;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative T gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg ACCTTAACGTCT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAaccttaacgtctAGATCGAGACCCGACGC chr7:54808645-Alternative-T;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative G gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg GAGGTGATAGTT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccGtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAgaggtgatagttAGATCGAGACCCGACGC chr7:54808645-Alternative-G;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative T gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg AGACCATAGCAA CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAagaccatagcaaAGATCGAGACCCGACGC chr7:54808645-Alternative-T;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Variant A gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CACGGACATATT CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccAtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAcacggacatattAGATCGAGACCCGACGC chr7:54808645-Variant-A;Patient-28 chr7:54808645-CA DeNovo Patient-28 intergenic NA 0.000513 -0.04 2.03 0.24 SEC61G 18293 Alternative T gactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcg CGCAAGATACGC CGACGCGGTCTCTCTCTgactgaaccaatgtacttcttccgtatattgattgatggctcatgtctccTtaaaatgtataaaactaagctgtgccccaaccaccttgggcacatgtcgAGAGGGAGACGGACGTCTCAATAAcgcaagatacgcAGATCGAGACCCGACGC chr7:54808645-Alternative-T;Patient-28 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative T ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag AGACGCATAACA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAagacgcataacaAGATCGAGACCCGACGC chr7:550569-Alternative-T;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Reference G ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag AGAATAAGGTGG CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAagaataaggtggAGATCGAGACCCGACGC chr7:550569-Reference-G;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative T ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CTGAGTAATTCG CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAActgagtaattcgAGATCGAGACCCGACGC chr7:550569-Alternative-T;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Variant A ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CTACAAGTACGT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAActacaagtacgtAGATCGAGACCCGACGC chr7:550569-Variant-A;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative T ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CTAGGTTCAGCG CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAActaggttcagcgAGATCGAGACCCGACGC chr7:550569-Alternative-T;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Variant A ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CTAAGCAGCGTT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAActaagcagcgttAGATCGAGACCCGACGC chr7:550569-Variant-A;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative T ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CATGCTATGTGA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAcatgctatgtgaAGATCGAGACCCGACGC chr7:550569-Alternative-T;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Reference G ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag ACTCCGAGTATA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAactccgagtataAGATCGAGACCCGACGC chr7:550569-Reference-G;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Variant A ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag ACTTCAGCGGCA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAacttcagcggcaAGATCGAGACCCGACGC chr7:550569-Variant-A;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Variant A ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CATCGCTACCAT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAcatcgctaccatAGATCGAGACCCGACGC chr7:550569-Variant-A;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative C ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CGCGGTGTGATT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAcgcggtgtgattAGATCGAGACCCGACGC chr7:550569-Alternative-C;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Reference G ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag GGTTCAGCCGAA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAggttcagccgaaAGATCGAGACCCGACGC chr7:550569-Reference-G;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative C ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CTATGCGGATGC CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAActatgcggatgcAGATCGAGACCCGACGC chr7:550569-Alternative-C;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Variant A ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag GCGTGTGCTCTT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcAacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAgcgtgtgctcttAGATCGAGACCCGACGC chr7:550569-Variant-A;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Reference G ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag GAATCGCGATAA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAgaatcgcgataaAGATCGAGACCCGACGC chr7:550569-Reference-G;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative C ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CGAACACGGTCT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAcgaacacggtctAGATCGAGACCCGACGC chr7:550569-Alternative-C;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative C ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag GAGAGTATGAGA CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAgagagtatgagaAGATCGAGACCCGACGC chr7:550569-Alternative-C;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative C ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag ACGTACACCAAT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcCacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAacgtacaccaatAGATCGAGACCCGACGC chr7:550569-Alternative-C;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Reference G ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag CAGTAGGTTAAG CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcGacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAcagtaggttaagAGATCGAGACCCGACGC chr7:550569-Reference-G;Patient-96 chr7:550569-GA DeNovo Patient-96 synonymous PDGFA 2e-05 0.000147 -0.35 0.25 -9.38 PDGFA 8911 Alternative T ttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacag GTTACGACAGTT CGACGCGGTCTCTCTCTttcacctccacgcacgggggccagatcaggaagttggcggacgtggggtcTacctgactccgaggaatctcgtaaatgaccgtcctggtcttgcagacagAGAGGGAGACGGACGTCTCAATAAgttacgacagttAGATCGAGACCCGACGC chr7:550569-Alternative-T;Patient-96 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative C ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaag AACCGTACCGTC CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAaaccgtaccgtcAGATCGAGACCCGACGC chr7:5560637-Alternative-C;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Reference G ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaag ATCCTCGATATC CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAatcctcgatatcAGATCGAGACCCGACGC chr7:5560637-Reference-G;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Reference G ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaag AAGAATATGCCG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAaagaatatgccgAGATCGAGACCCGACGC chr7:5560637-Reference-G;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Reference G ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaag ACGTTCTGTATC CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAacgttctgtatcAGATCGAGACCCGACGC chr7:5560637-Reference-G;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Reference G ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaag CGTGACTTAACT CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAcgtgacttaactAGATCGAGACCCGACGC chr7:5560637-Reference-G;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative T ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaag CATCATAAGCCA CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAcatcataagccaAGATCGAGACCCGACGC chr7:5560637-Alternative-T;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative T ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaag AAGACGTAACCT CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAaagacgtaacctAGATCGAGACCCGACGC chr7:5560637-Alternative-T;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative C ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaag GCGTACCACAAG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgcgtaccacaagAGATCGAGACCCGACGC chr7:5560637-Alternative-C;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative T ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaag CGGAACAACGAG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAcggaacaacgagAGATCGAGACCCGACGC chr7:5560637-Alternative-T;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Variant A ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaag ACAAGCGAGTCA CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAacaagcgagtcaAGATCGAGACCCGACGC chr7:5560637-Variant-A;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Reference G ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaag GGCGGATATCCT CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggGattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAggcggatatcctAGATCGAGACCCGACGC chr7:5560637-Reference-G;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Variant A ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaag GATAACGTGTTC CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgataacgtgttcAGATCGAGACCCGACGC chr7:5560637-Variant-A;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative T ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaag GTGACTTCGCGT CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgtgacttcgcgtAGATCGAGACCCGACGC chr7:5560637-Alternative-T;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative C ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaag GTAGAAGTGCGA CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgtagaagtgcgaAGATCGAGACCCGACGC chr7:5560637-Alternative-C;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative T ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaag AGTATCGTATCG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggTattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAagtatcgtatcgAGATCGAGACCCGACGC chr7:5560637-Alternative-T;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Variant A ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaag AGATCCTCTTCG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAagatcctcttcgAGATCGAGACCCGACGC chr7:5560637-Variant-A;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative C ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaag GTAACCTGGACA CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgtaacctggacaAGATCGAGACCCGACGC chr7:5560637-Alternative-C;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Alternative C ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaag GTCATGACTGCG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggCattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAgtcatgactgcgAGATCGAGACCCGACGC chr7:5560637-Alternative-C;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Variant A ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaag GGCCGATATGAG CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAggccgatatgagAGATCGAGACCCGACGC chr7:5560637-Variant-A;Patient-30 chr7:5560637-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA ACTB 9594 Variant A ctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaag ATAGGCCATCTA CGACGCGGTCTCTCTCTctgcctcccaggttcaagcaattctccagcattgcctcctgagtagctggAattacaggcatgtgctaccacacccagctaatttttttttttccccaagAGAGGGAGACGGACGTCTCAATAAataggccatctaAGATCGAGACCCGACGC chr7:5560637-Variant-A;Patient-30 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Variant A caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgt CTAAGCGTCGCA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAActaagcgtcgcaAGATCGAGACCCGACGC chr7:5589617-Variant-A;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Reference G caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgt CTATGACCACGA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAActatgaccacgaAGATCGAGACCCGACGC chr7:5589617-Reference-G;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Variant A caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgt CTAAGACGGCGA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAActaagacggcgaAGATCGAGACCCGACGC chr7:5589617-Variant-A;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative T caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgt CGGCTACATACG CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAcggctacatacgAGATCGAGACCCGACGC chr7:5589617-Alternative-T;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative C caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgt GGCGAGATCGAA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAggcgagatcgaaAGATCGAGACCCGACGC chr7:5589617-Alternative-C;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Variant A caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgt GAATATATGCCG CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAgaatatatgccgAGATCGAGACCCGACGC chr7:5589617-Variant-A;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative T caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgt AGGCCAACCACA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAaggccaaccacaAGATCGAGACCCGACGC chr7:5589617-Alternative-T;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative C caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgt GTGAGCGACTTA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAgtgagcgacttaAGATCGAGACCCGACGC chr7:5589617-Alternative-C;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Variant A caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgt CTAGTGCACCGA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAActagtgcaccgaAGATCGAGACCCGACGC chr7:5589617-Variant-A;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Variant A caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgt ATTGCGATTGAG CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcAcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAattgcgattgagAGATCGAGACCCGACGC chr7:5589617-Variant-A;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative T caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgt GTTGACCTAGAA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAgttgacctagaaAGATCGAGACCCGACGC chr7:5589617-Alternative-T;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative C caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgt GCATTCGCAGCA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAgcattcgcagcaAGATCGAGACCCGACGC chr7:5589617-Alternative-C;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative T caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgt CAGGAGATAGAA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAcaggagatagaaAGATCGAGACCCGACGC chr7:5589617-Alternative-T;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Reference G caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgt AGCATGGTAAGA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAagcatggtaagaAGATCGAGACCCGACGC chr7:5589617-Reference-G;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Reference G caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgt GCCAGACCGAAT CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAgccagaccgaatAGATCGAGACCCGACGC chr7:5589617-Reference-G;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative T caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgt CAGCGGCTCTAA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcTcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAcagcggctctaaAGATCGAGACCCGACGC chr7:5589617-Alternative-T;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative C caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgt ATTCCGAGGCCT CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAattccgaggcctAGATCGAGACCCGACGC chr7:5589617-Alternative-C;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Alternative C caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgt CGAGCGCTAACA CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcCcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAcgagcgctaacaAGATCGAGACCCGACGC chr7:5589617-Alternative-C;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Reference G caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgt AGGCACCTCATT CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAaggcacctcattAGATCGAGACCCGACGC chr7:5589617-Reference-G;Patient-53 chr7:5589617-GA DeNovo Patient-53 intergenic 0.000167 0.000513 -0.15 0.98 -0.85 ACTB 19384 Reference G caggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgt CATTCAAGACGC CGACGCGGTCTCTCTCTcaggagaattgctccaacccgggaggccgaggttgcagtgagccaagttcGcactactgcactccagcactccagcctgggcagcagagcaagactctgtAGAGGGAGACGGACGTCTCAATAAcattcaagacgcAGATCGAGACCCGACGC chr7:5589617-Reference-G;Patient-53 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative G aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactct GTACGTAAGCAT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgtacgtaagcatAGATCGAGACCCGACGC chr7:5603440-Alternative-G;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Variant T aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactct CTCTAAGATCGA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAActctaagatcgaAGATCGAGACCCGACGC chr7:5603440-Variant-T;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative C aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactct CATCGGCTAGGT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAcatcggctaggtAGATCGAGACCCGACGC chr7:5603440-Alternative-C;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Reference A aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactct ATAGGCGAAGAA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAataggcgaagaaAGATCGAGACCCGACGC chr7:5603440-Reference-A;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative G aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactct ATCCTCGGACAG CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAatcctcggacagAGATCGAGACCCGACGC chr7:5603440-Alternative-G;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative G aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactct CAGCTAATTCGA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAcagctaattcgaAGATCGAGACCCGACGC chr7:5603440-Alternative-G;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Variant T aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactct ACGGCATCCGTT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAacggcatccgttAGATCGAGACCCGACGC chr7:5603440-Variant-T;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Reference A aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactct GGATGCTTACTT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAggatgcttacttAGATCGAGACCCGACGC chr7:5603440-Reference-A;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Reference A aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactct CACGATGACGAT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAcacgatgacgatAGATCGAGACCCGACGC chr7:5603440-Reference-A;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative C aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactct AAGGTGTAGCAT CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAaaggtgtagcatAGATCGAGACCCGACGC chr7:5603440-Alternative-C;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative G aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactct GCAGCAATGCTA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgcagcaatgctaAGATCGAGACCCGACGC chr7:5603440-Alternative-G;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative G aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactct AGACTGAAGTCA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgGtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAagactgaagtcaAGATCGAGACCCGACGC chr7:5603440-Alternative-G;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Reference A aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactct GAATTATAGCGG CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgaattatagcggAGATCGAGACCCGACGC chr7:5603440-Reference-A;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Reference A aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactct ATAGCAAGGCTA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgAtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAatagcaaggctaAGATCGAGACCCGACGC chr7:5603440-Reference-A;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Variant T aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactct CGGTGGCTCTTA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAcggtggctcttaAGATCGAGACCCGACGC chr7:5603440-Variant-T;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Variant T aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactct GATACCATCGGC CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgataccatcggcAGATCGAGACCCGACGC chr7:5603440-Variant-T;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Variant T aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactct GTTCTAACGCGC CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgTtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgttctaacgcgcAGATCGAGACCCGACGC chr7:5603440-Variant-T;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative C aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactct GGATCTTAGCCA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAggatcttagccaAGATCGAGACCCGACGC chr7:5603440-Alternative-C;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative C aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactct GTACCTGTCGTC CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgtacctgtcgtcAGATCGAGACCCGACGC chr7:5603440-Alternative-C;Patient-87 chr7:5603440-AT Inherited Patient-87 intergenic NA 0.000513 -0.18 0.81 -4.85 ACTB 33207 Alternative C aaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactct GTCAACGGAATA CGACGCGGTCTCTCTCTaaccgacgcgcctgccgcgccaagctgggtggggctggactcgtccggtgCtggggccctttgggcagccagacacatttttttttcagagtttcactctAGAGGGAGACGGACGTCTCAATAAgtcaacggaataAGATCGAGACCCGACGC chr7:5603440-Alternative-C;Patient-87 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative C gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt ACATAAGCCGGC CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAacataagccggcAGATCGAGACCCGACGC chr7:56044137-Alternative-C;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Reference G gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt CGGAACATGCGA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAcggaacatgcgaAGATCGAGACCCGACGC chr7:56044137-Reference-G;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Variant A gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GATGCGGACATA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgatgcggacataAGATCGAGACCCGACGC chr7:56044137-Variant-A;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Variant A gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GCGTAATTACGA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgcgtaattacgaAGATCGAGACCCGACGC chr7:56044137-Variant-A;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Variant A gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GGAACACCAACC CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAggaacaccaaccAGATCGAGACCCGACGC chr7:56044137-Variant-A;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative T gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt CGGTCATGGAGT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAcggtcatggagtAGATCGAGACCCGACGC chr7:56044137-Alternative-T;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative T gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt AGACGACGTGCA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAagacgacgtgcaAGATCGAGACCCGACGC chr7:56044137-Alternative-T;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative T gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt ACACGCGATGCA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAacacgcgatgcaAGATCGAGACCCGACGC chr7:56044137-Alternative-T;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative T gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GTACGCGTAAGG CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgtacgcgtaaggAGATCGAGACCCGACGC chr7:56044137-Alternative-T;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative T gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt ACAATAACGCCT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccTtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAacaataacgcctAGATCGAGACCCGACGC chr7:56044137-Alternative-T;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Reference G gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GCGACGTCCAAT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgcgacgtccaatAGATCGAGACCCGACGC chr7:56044137-Reference-G;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Reference G gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt ACCTCGGTACCT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAacctcggtacctAGATCGAGACCCGACGC chr7:56044137-Reference-G;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Reference G gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt AGTTCTGCGTGG CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAagttctgcgtggAGATCGAGACCCGACGC chr7:56044137-Reference-G;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Reference G gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt AGCTCGTGTAGA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccGtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAagctcgtgtagaAGATCGAGACCCGACGC chr7:56044137-Reference-G;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative C gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt AGTACTCTGACA CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAagtactctgacaAGATCGAGACCCGACGC chr7:56044137-Alternative-C;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative C gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GTCGTACAGTCG CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgtcgtacagtcgAGATCGAGACCCGACGC chr7:56044137-Alternative-C;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative C gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GGAAGTTGGTAT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAggaagttggtatAGATCGAGACCCGACGC chr7:56044137-Alternative-C;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Alternative C gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt CAACGAGTCACT CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccCtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAcaacgagtcactAGATCGAGACCCGACGC chr7:56044137-Alternative-C;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Variant A gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt CTCAATACGGCG CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAActcaatacggcgAGATCGAGACCCGACGC chr7:56044137-Variant-A;Patient-30 chr7:56044137-GA Inherited Patient-30 intronic NIPSNAP2 0.000255 4.95e-05 NA NA NA NIPSNAP2 11866 Variant A gaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagttt GATAGGCGAAGG CGACGCGGTCTCTCTCTgaatatttgtatgcattcaactttgtgcacctgtctaaatatagctggccAtaggacataaccgcaagtgtcattattgggctgaagtcatacacagtttAGAGGGAGACGGACGTCTCAATAAgataggcgaaggAGATCGAGACCCGACGC chr7:56044137-Variant-A;Patient-30 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative C tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa CGGCTATTATGA CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAcggctattatgaAGATCGAGACCCGACGC chr7:628719-Alternative-C;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative C tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa CTGGTATACAAC CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAActggtatacaacAGATCGAGACCCGACGC chr7:628719-Alternative-C;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Reference G tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ATCGGACTCATT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAatcggactcattAGATCGAGACCCGACGC chr7:628719-Reference-G;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Variant A tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GTCTCGAATATC CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgtctcgaatatcAGATCGAGACCCGACGC chr7:628719-Variant-A;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Reference G tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa AGCATTCGTCGG CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAagcattcgtcggAGATCGAGACCCGACGC chr7:628719-Reference-G;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative T tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GTGATCATACGG CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgtgatcatacggAGATCGAGACCCGACGC chr7:628719-Alternative-T;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Reference G tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GAGGTGTACCGA CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgaggtgtaccgaAGATCGAGACCCGACGC chr7:628719-Reference-G;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Variant A tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GCGAGACTGACT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgcgagactgactAGATCGAGACCCGACGC chr7:628719-Variant-A;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative T tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ATCATGTCGGTT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAatcatgtcggttAGATCGAGACCCGACGC chr7:628719-Alternative-T;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative C tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ACCTACTTAGTC CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAacctacttagtcAGATCGAGACCCGACGC chr7:628719-Alternative-C;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Variant A tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ACATAGTGGAGT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAacatagtggagtAGATCGAGACCCGACGC chr7:628719-Variant-A;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Variant A tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa AGCGTTCTCCGT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAagcgttctccgtAGATCGAGACCCGACGC chr7:628719-Variant-A;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative C tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ACCTAAGCAATC CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAacctaagcaatcAGATCGAGACCCGACGC chr7:628719-Alternative-C;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative C tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GTATCGCAAGTT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccCggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgtatcgcaagttAGATCGAGACCCGACGC chr7:628719-Alternative-C;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative T tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GAGTATTACCGT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgagtattaccgtAGATCGAGACCCGACGC chr7:628719-Alternative-T;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Reference G tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ACTTAACCTACG CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAacttaacctacgAGATCGAGACCCGACGC chr7:628719-Reference-G;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative T tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ATCGCACGATTA CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAatcgcacgattaAGATCGAGACCCGACGC chr7:628719-Alternative-T;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Variant A tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa ACGCATCCGCAA CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccAggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAacgcatccgcaaAGATCGAGACCCGACGC chr7:628719-Variant-A;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Alternative T tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa GCAGTAAGGCGT CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccTggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAgcagtaaggcgtAGATCGAGACCCGACGC chr7:628719-Alternative-T;Patient-53 chr7:628719-GA DeNovo Patient-53 intronic PRKAR1B 0.000451 4.95e-05 0.01 2.77 0.47 PDGFA 69237 Reference G tgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaa CAAGCGAGACAC CGACGCGGTCTCTCTCTtgatgatggtagtgatggtggcaatgatgatggtggtagtggtttttaccGggtacacaaaagtgtgctgacggggaaagtcaggacattgcaattccaaAGAGGGAGACGGACGTCTCAATAAcaagcgagacacAGATCGAGACCCGACGC chr7:628719-Reference-G;Patient-53 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Variant T cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CGCGTACGGATA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcgcgtacggataAGATCGAGACCCGACGC chr7:69143375-Variant-T;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Variant T cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt AGCACCTCGAAT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAagcacctcgaatAGATCGAGACCCGACGC chr7:69143375-Variant-T;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative A cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CGCATGGTACAG CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcgcatggtacagAGATCGAGACCCGACGC chr7:69143375-Alternative-A;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative A cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CGCGCGATACTT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcgcgcgatacttAGATCGAGACCCGACGC chr7:69143375-Alternative-A;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Variant T cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CGCAACAAGCGA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcgcaacaagcgaAGATCGAGACCCGACGC chr7:69143375-Variant-T;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative A cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt GCGAACTCGTCT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAgcgaactcgtctAGATCGAGACCCGACGC chr7:69143375-Alternative-A;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative A cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CTAGGCATGTTC CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAActaggcatgttcAGATCGAGACCCGACGC chr7:69143375-Alternative-A;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative C cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt GTCGACTATTCT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAgtcgactattctAGATCGAGACCCGACGC chr7:69143375-Alternative-C;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative C cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CATCGATCTTGT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcatcgatcttgtAGATCGAGACCCGACGC chr7:69143375-Alternative-C;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative A cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CAGATCGTTCGG CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaAcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcagatcgttcggAGATCGAGACCCGACGC chr7:69143375-Alternative-A;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative C cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt GCCGACAATTAA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAgccgacaattaaAGATCGAGACCCGACGC chr7:69143375-Alternative-C;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Variant T cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CTAGAGGTGTTA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAActagaggtgttaAGATCGAGACCCGACGC chr7:69143375-Variant-T;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Reference G cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt AGCCTTAAGTGT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAagccttaagtgtAGATCGAGACCCGACGC chr7:69143375-Reference-G;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Reference G cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt GGCGGACAGTAT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAggcggacagtatAGATCGAGACCCGACGC chr7:69143375-Reference-G;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative C cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt AGGACTCGGCTT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAaggactcggcttAGATCGAGACCCGACGC chr7:69143375-Alternative-C;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Reference G cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CGTCAGATTCAT CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcgtcagattcatAGATCGAGACCCGACGC chr7:69143375-Reference-G;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Reference G cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt AGAGGTGACGAG CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAagaggtgacgagAGATCGAGACCCGACGC chr7:69143375-Reference-G;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Reference G cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CTATTGACGTGA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaGcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAActattgacgtgaAGATCGAGACCCGACGC chr7:69143375-Reference-G;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Variant T cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt AACACACAACAG CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaTcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAaacacacaacagAGATCGAGACCCGACGC chr7:69143375-Variant-T;Patient-99 chr7:69143375-GT DeNovo Patient-99 intronic AUTS2 0.000446 0.000148 -0.1 1.45 -0.98 AUTS2 79469 Alternative C cactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagtt CATCTTGGTTCA CGACGCGGTCTCTCTCTcactgtctacagcctcttgaattgacttctgggtgttacagatgggaccaCcgtgtgtaaaagcagaatttatattctatttggatatcagaatcaagttAGAGGGAGACGGACGTCTCAATAAcatcttggttcaAGATCGAGACCCGACGC chr7:69143375-Alternative-C;Patient-99 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Reference G tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaag ACAGCGCACAAG CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAacagcgcacaagAGATCGAGACCCGACGC chr7:72976247-Reference-G;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Reference G tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CGACCATATCGA CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAcgaccatatcgaAGATCGAGACCCGACGC chr7:72976247-Reference-G;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative T tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GCGGTAACAACG CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgcggtaacaacgAGATCGAGACCCGACGC chr7:72976247-Alternative-T;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative T tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GGTCTTACCTAC CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAggtcttacctacAGATCGAGACCCGACGC chr7:72976247-Alternative-T;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Reference G tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CTTGGATGACAT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAActtggatgacatAGATCGAGACCCGACGC chr7:72976247-Reference-G;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Reference G tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GATATCGAGCTA CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgatatcgagctaAGATCGAGACCCGACGC chr7:72976247-Reference-G;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Reference G tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CGGCATCTACGA CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgGatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAcggcatctacgaAGATCGAGACCCGACGC chr7:72976247-Reference-G;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative T tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GCCGGATTGTGT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgccggattgtgtAGATCGAGACCCGACGC chr7:72976247-Alternative-T;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Variant C tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CTGGTGTGCAGT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAActggtgtgcagtAGATCGAGACCCGACGC chr7:72976247-Variant-C;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Variant C tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GTCCGCGCTTAT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgtccgcgcttatAGATCGAGACCCGACGC chr7:72976247-Variant-C;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative A tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GTAGATTCCTGA CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgtagattcctgaAGATCGAGACCCGACGC chr7:72976247-Alternative-A;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Variant C tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaag ACAAGATGATGC CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAacaagatgatgcAGATCGAGACCCGACGC chr7:72976247-Variant-C;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative T tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CGTAGGATGTGG CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAcgtaggatgtggAGATCGAGACCCGACGC chr7:72976247-Alternative-T;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Variant C tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaag AGAACCAGTCGC CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAagaaccagtcgcAGATCGAGACCCGACGC chr7:72976247-Variant-C;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative A tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaag ATATGAGCCATC CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAatatgagccatcAGATCGAGACCCGACGC chr7:72976247-Alternative-A;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative T tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GTATAGCGCGAG CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgTatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgtatagcgcgagAGATCGAGACCCGACGC chr7:72976247-Alternative-T;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative A tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaag CGACGTGTAGCT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAcgacgtgtagctAGATCGAGACCCGACGC chr7:72976247-Alternative-A;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative A tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaag AACAGCTTACGT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAaacagcttacgtAGATCGAGACCCGACGC chr7:72976247-Alternative-A;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Alternative A tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GGTGCGAGATGT CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgAatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAggtgcgagatgtAGATCGAGACCCGACGC chr7:72976247-Alternative-A;Patient-110 chr7:72976247-GC Inherited Patient-110 intergenic NA 3.98e-05 0.09 4.04 1.06 TBL2 16765 Variant C tcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaag GAGCATGCAACG CGACGCGGTCTCTCTCTtcttgtcattttctaggtgaaaggcttgtgctagatgagatgccgaggtgCatacagaggagccaccccagatctctgcattgggcgacctgcattcaagAGAGGGAGACGGACGTCTCAATAAgagcatgcaacgAGATCGAGACCCGACGC chr7:72976247-Variant-C;Patient-110 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Reference G gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GTCGGCTAATTA CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgtcggctaattaAGATCGAGACCCGACGC chr7:73342903-Reference-G;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative C gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CAGGCTCATAAT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAcaggctcataatAGATCGAGACCCGACGC chr7:73342903-Alternative-C;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Variant A gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GGACCACAAGCT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAggaccacaagctAGATCGAGACCCGACGC chr7:73342903-Variant-A;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative T gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GTCGTTCACGTC CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgtcgttcacgtcAGATCGAGACCCGACGC chr7:73342903-Alternative-T;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Variant A gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt ATTCTGACGTTC CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAattctgacgttcAGATCGAGACCCGACGC chr7:73342903-Variant-A;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Variant A gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GCCAAGTTCCGA CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgccaagttccgaAGATCGAGACCCGACGC chr7:73342903-Variant-A;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative C gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CTAATGAGGTTC CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAActaatgaggttcAGATCGAGACCCGACGC chr7:73342903-Alternative-C;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative C gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt ATCGTCCACGAG CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAatcgtccacgagAGATCGAGACCCGACGC chr7:73342903-Alternative-C;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Variant A gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GATGCTAGGCGT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgatgctaggcgtAGATCGAGACCCGACGC chr7:73342903-Variant-A;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative T gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CTGTCGCATTAT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAActgtcgcattatAGATCGAGACCCGACGC chr7:73342903-Alternative-T;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Variant A gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CTGCATACGCAA CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaAtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAActgcatacgcaaAGATCGAGACCCGACGC chr7:73342903-Variant-A;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative C gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt AGTATCGCTCTT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAagtatcgctcttAGATCGAGACCCGACGC chr7:73342903-Alternative-C;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Reference G gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GTTAATGACCGT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgttaatgaccgtAGATCGAGACCCGACGC chr7:73342903-Reference-G;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative C gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CATCTTCCGGCA CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaCtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAcatcttccggcaAGATCGAGACCCGACGC chr7:73342903-Alternative-C;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative T gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GTCATCGCGACT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgtcatcgcgactAGATCGAGACCCGACGC chr7:73342903-Alternative-T;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative T gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CAGTCGCATCTT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAcagtcgcatcttAGATCGAGACCCGACGC chr7:73342903-Alternative-T;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Alternative T gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt CGAGTATTGTGT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaTtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAcgagtattgtgtAGATCGAGACCCGACGC chr7:73342903-Alternative-T;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Reference G gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt GTTATGCGCGCT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAgttatgcgcgctAGATCGAGACCCGACGC chr7:73342903-Reference-G;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Reference G gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt AGTCCGACCAAC CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAagtccgaccaacAGATCGAGACCCGACGC chr7:73342903-Reference-G;Patient-103 chr7:73342903-GA DeNovo Patient-103 intergenic NA 0.000243428 -0.2 0.72 0 ELN 99215 Reference G gctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggt ACATCTGGTTCT CGACGCGGTCTCTCTCTgctggagtgcaatggcgtgatctcggctctctgcaacctctgcttcctgaGtttaagcaattctcctgcctcagcctccccagtagctgggattacaggtAGAGGGAGACGGACGTCTCAATAAacatctggttctAGATCGAGACCCGACGC chr7:73342903-Reference-G;Patient-103 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Reference G aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GAATCAGGTAGT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgaatcaggtagtAGATCGAGACCCGACGC chr7:73370724-Reference-G;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative T aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat CAGCTGTCTATT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAcagctgtctattAGATCGAGACCCGACGC chr7:73370724-Alternative-T;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Reference G aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GCAATCGATTCA CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgcaatcgattcaAGATCGAGACCCGACGC chr7:73370724-Reference-G;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative A aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GGCACGTCGTTA CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAggcacgtcgttaAGATCGAGACCCGACGC chr7:73370724-Alternative-A;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative T aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ACCGCAACACGA CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAaccgcaacacgaAGATCGAGACCCGACGC chr7:73370724-Alternative-T;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Reference G aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ACTCAACCGGTT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAactcaaccggttAGATCGAGACCCGACGC chr7:73370724-Reference-G;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative T aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat CTAGTTAGCCTT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAActagttagccttAGATCGAGACCCGACGC chr7:73370724-Alternative-T;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative T aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GTGTAGTCATGT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgtgtagtcatgtAGATCGAGACCCGACGC chr7:73370724-Alternative-T;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative A aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GCGATTCGGAGT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgcgattcggagtAGATCGAGACCCGACGC chr7:73370724-Alternative-A;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative T aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ACTCCTAGTACT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaTgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAactcctagtactAGATCGAGACCCGACGC chr7:73370724-Alternative-T;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative A aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ACTTAGCCGCAG CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAacttagccgcagAGATCGAGACCCGACGC chr7:73370724-Alternative-A;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Variant C aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat AGGTTGTGGACG CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAaggttgtggacgAGATCGAGACCCGACGC chr7:73370724-Variant-C;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative A aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ATTCGGTACAGT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAattcggtacagtAGATCGAGACCCGACGC chr7:73370724-Alternative-A;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Variant C aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat AACCACGAACTT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAaaccacgaacttAGATCGAGACCCGACGC chr7:73370724-Variant-C;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Reference G aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GTAGTCGTACTA CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgtagtcgtactaAGATCGAGACCCGACGC chr7:73370724-Reference-G;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Alternative A aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat GTCATGGCTACG CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaAgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAgtcatggctacgAGATCGAGACCCGACGC chr7:73370724-Alternative-A;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Reference G aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat CTGTTCGGTTCG CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaGgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAActgttcggttcgAGATCGAGACCCGACGC chr7:73370724-Reference-G;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Variant C aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat AAGCACCTACAC CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAaagcacctacacAGATCGAGACCCGACGC chr7:73370724-Variant-C;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Variant C aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ATACTACGTGGT CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAatactacgtggtAGATCGAGACCCGACGC chr7:73370724-Variant-C;Patient-90 chr7:73370724-GC DeNovo Patient-90 intergenic NA 0.000243 0.55 9.84 0 ELN 71394 Variant C aggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgat ATTCTGAGTGCG CGACGCGGTCTCTCTCTaggcatgcctcaccacgcgtggctaatttttgtatatttagtagggatgaCgtttcaccaggttggccaggctgctcttgaactcacaagctcaagtgatAGAGGGAGACGGACGTCTCAATAAattctgagtgcgAGATCGAGACCCGACGC chr7:73370724-Variant-C;Patient-90 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Reference G caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CATCTATAAGCG CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcatctataagcgAGATCGAGACCCGACGC chr7:73660481-Reference-G;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Reference G caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa AACTAGGCGCGT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAaactaggcgcgtAGATCGAGACCCGACGC chr7:73660481-Reference-G;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Reference G caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa ACCGACTGACTA CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAaccgactgactaAGATCGAGACCCGACGC chr7:73660481-Reference-G;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Reference G caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CAACCAATAGTC CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcaaccaatagtcAGATCGAGACCCGACGC chr7:73660481-Reference-G;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative A caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GTTAATCTCGCT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAgttaatctcgctAGATCGAGACCCGACGC chr7:73660481-Alternative-A;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative A caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa ACGCGCGATTGA CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAacgcgcgattgaAGATCGAGACCCGACGC chr7:73660481-Alternative-A;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative A caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GGCTACCTAGAT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAggctacctagatAGATCGAGACCCGACGC chr7:73660481-Alternative-A;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Reference G caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GATCCAATTCCT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcGcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAgatccaattcctAGATCGAGACCCGACGC chr7:73660481-Reference-G;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Variant T caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GATTGTTACCGC CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAgattgttaccgcAGATCGAGACCCGACGC chr7:73660481-Variant-T;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative A caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa ATTGTACCGTCT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAattgtaccgtctAGATCGAGACCCGACGC chr7:73660481-Alternative-A;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Variant T caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa ATTCTCGCAACT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAattctcgcaactAGATCGAGACCCGACGC chr7:73660481-Variant-T;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Variant T caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CGATGTGGACCT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcgatgtggacctAGATCGAGACCCGACGC chr7:73660481-Variant-T;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Variant T caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CGAAGGCAATCA CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcgaaggcaatcaAGATCGAGACCCGACGC chr7:73660481-Variant-T;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative A caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa ACGTTCGCCTTA CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcAcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAacgttcgccttaAGATCGAGACCCGACGC chr7:73660481-Alternative-A;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Variant T caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GATGAACGTAGT CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcTcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAgatgaacgtagtAGATCGAGACCCGACGC chr7:73660481-Variant-T;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative C caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GTTGGAGGCCTA CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAgttggaggcctaAGATCGAGACCCGACGC chr7:73660481-Alternative-C;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative C caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CGGTAATGACGG CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcggtaatgacggAGATCGAGACCCGACGC chr7:73660481-Alternative-C;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative C caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CGTACACACGAC CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAcgtacacacgacAGATCGAGACCCGACGC chr7:73660481-Alternative-C;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative C caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa CTGAGGTTCGAC CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAActgaggttcgacAGATCGAGACCCGACGC chr7:73660481-Alternative-C;Patient-25 chr7:73660481-GT Inherited Patient-25 intronic RFC2 0.000166 4.95e-05 -0.45 0.12 -0.26 RFC2 8306 Alternative C caggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaa GGCGAAGTTCAC CGACGCGGTCTCTCTCTcaggagaatcacgtgaacccaggaggcggaggttgcagtgagctgaaatcCcaccactgcactccagcctgggagacagagcgagactctgtctcaaaaaAGAGGGAGACGGACGTCTCAATAAggcgaagttcacAGATCGAGACCCGACGC chr7:73660481-Alternative-C;Patient-25 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Reference C aattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc CTGGTAAGCGGT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAActggtaagcggtAGATCGAGACCCGACGC chr7:73897137-Reference-C;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Reference C aattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc ATAACGTGTCGT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAataacgtgtcgtAGATCGAGACCCGACGC chr7:73897137-Reference-C;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative A aattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GATGACTTACCA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgatgacttaccaAGATCGAGACCCGACGC chr7:73897137-Alternative-A;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Reference C aattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GCATGCTCGTTC CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgcatgctcgttcAGATCGAGACCCGACGC chr7:73897137-Reference-C;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Reference C aattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc AGTAGAGTATGC CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAagtagagtatgcAGATCGAGACCCGACGC chr7:73897137-Reference-C;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Reference C aattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GCGTGGACCATA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacCgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgcgtggaccataAGATCGAGACCCGACGC chr7:73897137-Reference-C;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Variant T aattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc AGCTCGTACTAA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAagctcgtactaaAGATCGAGACCCGACGC chr7:73897137-Variant-T;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative A aattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc ATCTGGCTAGCT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAatctggctagctAGATCGAGACCCGACGC chr7:73897137-Alternative-A;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative G aattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GGATGCAATCTT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAggatgcaatcttAGATCGAGACCCGACGC chr7:73897137-Alternative-G;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative G aattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GCAATGCTTACA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgcaatgcttacaAGATCGAGACCCGACGC chr7:73897137-Alternative-G;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative G aattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc CTTAGGTACCGA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAActtaggtaccgaAGATCGAGACCCGACGC chr7:73897137-Alternative-G;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Variant T aattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc CAGATCGACCGT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAcagatcgaccgtAGATCGAGACCCGACGC chr7:73897137-Variant-T;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative A aattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GTACCTACAGCG CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgtacctacagcgAGATCGAGACCCGACGC chr7:73897137-Alternative-A;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative G aattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc AGCTTCGGAGGT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAagcttcggaggtAGATCGAGACCCGACGC chr7:73897137-Alternative-G;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative G aattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GGTAACGCACTA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacGgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAggtaacgcactaAGATCGAGACCCGACGC chr7:73897137-Alternative-G;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Variant T aattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc ACGACCGATGCT CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAacgaccgatgctAGATCGAGACCCGACGC chr7:73897137-Variant-T;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative A aattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GACCGGAGTGAA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgaccggagtgaaAGATCGAGACCCGACGC chr7:73897137-Alternative-A;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Alternative A aattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GATTCGCCACGA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacAgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgattcgccacgaAGATCGAGACCCGACGC chr7:73897137-Alternative-A;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Variant T aattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc ATTACGTCGAAC CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAattacgtcgaacAGATCGAGACCCGACGC chr7:73897137-Variant-T;Patient-62 chr7:73897137-CT DeNovo Patient-62 intronic GTF2IRD1 NA 0.00016 -0.02 2.28 -1.69 GTF2IRD1 29016 Variant T aattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttcc GTGCTCGCATGA CGACGCGGTCTCTCTCTaattctaccatgtgacctcagattctttcatcatccttgcgagattccacTgtggtgttgcgtgtctttgtggtttgctcatacgtctgatgccttttccAGAGGGAGACGGACGTCTCAATAAgtgctcgcatgaAGATCGAGACCCGACGC chr7:73897137-Variant-T;Patient-62 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Reference G cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GTAAGTAAGCGT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgtaagtaagcgtAGATCGAGACCCGACGC chr7:73897451-Reference-G;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Reference G cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GACCTACCTGAG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgacctacctgagAGATCGAGACCCGACGC chr7:73897451-Reference-G;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Reference G cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctag CGGAAGCATGAG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAcggaagcatgagAGATCGAGACCCGACGC chr7:73897451-Reference-G;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Variant A cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GGCGAAGTAACT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAggcgaagtaactAGATCGAGACCCGACGC chr7:73897451-Variant-A;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative T cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctag CGGTGCGACTAA CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAcggtgcgactaaAGATCGAGACCCGACGC chr7:73897451-Alternative-T;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative T cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctag ACGAGTCTGTCG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAacgagtctgtcgAGATCGAGACCCGACGC chr7:73897451-Alternative-T;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Reference G cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctag AGTCGCACCGAT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAagtcgcaccgatAGATCGAGACCCGACGC chr7:73897451-Reference-G;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative T cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GATTACCACCTT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgattaccaccttAGATCGAGACCCGACGC chr7:73897451-Alternative-T;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Variant A cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctag CGGAGAGCCTTA CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAcggagagccttaAGATCGAGACCCGACGC chr7:73897451-Variant-A;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Reference G cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctag ACTAGCTAATCG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccGtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAactagctaatcgAGATCGAGACCCGACGC chr7:73897451-Reference-G;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative T cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GGTCTGGCGATT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAggtctggcgattAGATCGAGACCCGACGC chr7:73897451-Alternative-T;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Variant A cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GCGTACCACGAA CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgcgtaccacgaaAGATCGAGACCCGACGC chr7:73897451-Variant-A;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative T cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctag AGATTGGCGCAC CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccTtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAagattggcgcacAGATCGAGACCCGACGC chr7:73897451-Alternative-T;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative C cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GATGAACGAGCA CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgatgaacgagcaAGATCGAGACCCGACGC chr7:73897451-Alternative-C;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Variant A cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GAGTACTAGCTT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgagtactagcttAGATCGAGACCCGACGC chr7:73897451-Variant-A;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative C cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctag ACTCCAACTAGA CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAactccaactagaAGATCGAGACCCGACGC chr7:73897451-Alternative-C;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative C cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GCGATTAATCGT CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAgcgattaatcgtAGATCGAGACCCGACGC chr7:73897451-Alternative-C;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Variant A cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctag GGTCTTCGTCAC CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccAtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAggtcttcgtcacAGATCGAGACCCGACGC chr7:73897451-Variant-A;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative C cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctag CTCTTGGTATGG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAActcttggtatggAGATCGAGACCCGACGC chr7:73897451-Alternative-C;Patient-54 chr7:73897451-GA DeNovo Patient-54 intronic GTF2IRD1 0.000159 0.00016 -0.21 0.69 -0.49 GTF2IRD1 29330 Alternative C cctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctag AACGCCTAACGG CGACGCGGTCTCTCTCTcctgggttgggtgtgcagagatctggggttcagtctgacgcctctgggccCtggtttccctagatggacatgcaggtggttagatgaggggcccatctagAGAGGGAGACGGACGTCTCAATAAaacgcctaacggAGATCGAGACCCGACGC chr7:73897451-Alternative-C;Patient-54 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Variant C tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga ATCGCACGGAAC CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAatcgcacggaacAGATCGAGACCCGACGC chr7:74094578-Variant-C;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Variant C tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CAGCAGTATGTT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcagcagtatgttAGATCGAGACCCGACGC chr7:74094578-Variant-C;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Variant C tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CGTCTAATGAGT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcgtctaatgagtAGATCGAGACCCGACGC chr7:74094578-Variant-C;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Variant C tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga ATAAGGCCAAGT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAataaggccaagtAGATCGAGACCCGACGC chr7:74094578-Variant-C;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Reference T tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga AGGTTAATCGTC CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAaggttaatcgtcAGATCGAGACCCGACGC chr7:74094578-Reference-T;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative G tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CTTGTCGACAGG CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAActtgtcgacaggAGATCGAGACCCGACGC chr7:74094578-Alternative-G;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative G tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga AGATATGTGCAG CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAagatatgtgcagAGATCGAGACCCGACGC chr7:74094578-Alternative-G;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Reference T tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga ATTGCGTTCGCG CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAattgcgttcgcgAGATCGAGACCCGACGC chr7:74094578-Reference-T;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative A tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CTAAGACGTTGT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAActaagacgttgtAGATCGAGACCCGACGC chr7:74094578-Alternative-A;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative G tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga GGCTACATTGCG CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAggctacattgcgAGATCGAGACCCGACGC chr7:74094578-Alternative-G;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative A tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga GCCGATCAAGGT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAgccgatcaaggtAGATCGAGACCCGACGC chr7:74094578-Alternative-A;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative G tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga ACATCCAATCCT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAacatccaatcctAGATCGAGACCCGACGC chr7:74094578-Alternative-G;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Variant C tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CATTATCTCCGA CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaCgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcattatctccgaAGATCGAGACCCGACGC chr7:74094578-Variant-C;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Reference T tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga AGAGCCTTAAGA CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAagagccttaagaAGATCGAGACCCGACGC chr7:74094578-Reference-T;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative G tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CGGATTACTGAT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaGgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcggattactgatAGATCGAGACCCGACGC chr7:74094578-Alternative-G;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Reference T tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga GTACTATCGAAC CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAgtactatcgaacAGATCGAGACCCGACGC chr7:74094578-Reference-T;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative A tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CGTGTCTTACGC CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcgtgtcttacgcAGATCGAGACCCGACGC chr7:74094578-Alternative-A;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Reference T tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga CGTCACGTTATT CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaTgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAcgtcacgttattAGATCGAGACCCGACGC chr7:74094578-Reference-T;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative A tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga GTATTCGTACGA CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAgtattcgtacgaAGATCGAGACCCGACGC chr7:74094578-Alternative-A;Patient-55 chr7:74094578-TC Inherited Patient-55 intronic GTF2I 0.000283 0.000159744 0.31 7.41 2.28 GTF2I 22586 Alternative A tatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctga GGCCATTCGTTC CGACGCGGTCTCTCTCTtatatatttgtgtatatatattataacatgaaaaagaaatagggcatgaaAgtaatttaaataaaagagtgttctagcacctgcccacttgccagtctgaAGAGGGAGACGGACGTCTCAATAAggccattcgttcAGATCGAGACCCGACGC chr7:74094578-Alternative-A;Patient-55 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Reference T ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca GAAGAGCATGAA CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAgaagagcatgaaAGATCGAGACCCGACGC chr7:7505233-Reference-T;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative G ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ACGACTTACGAT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAacgacttacgatAGATCGAGACCCGACGC chr7:7505233-Alternative-G;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative G ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ACCGCTGTGGAT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAaccgctgtggatAGATCGAGACCCGACGC chr7:7505233-Alternative-G;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative G ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca GCGTATCTTGTT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAgcgtatcttgttAGATCGAGACCCGACGC chr7:7505233-Alternative-G;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Reference T ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca GTCCGGATCGAT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAgtccggatcgatAGATCGAGACCCGACGC chr7:7505233-Reference-T;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative G ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca CACGCGACGTAT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAcacgcgacgtatAGATCGAGACCCGACGC chr7:7505233-Alternative-G;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative G ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ATCGCGTAGTGG CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacGacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAatcgcgtagtggAGATCGAGACCCGACGC chr7:7505233-Alternative-G;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Reference T ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca AAGCACCAATGA CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAaagcaccaatgaAGATCGAGACCCGACGC chr7:7505233-Reference-T;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Reference T ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ATCGTTACCAAC CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAatcgttaccaacAGATCGAGACCCGACGC chr7:7505233-Reference-T;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative A ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca AATCTCACAACG CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAaatctcacaacgAGATCGAGACCCGACGC chr7:7505233-Alternative-A;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative A ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca GTTAAGGTTCCA CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAgttaaggttccaAGATCGAGACCCGACGC chr7:7505233-Alternative-A;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Reference T ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca AGCGTAGCCATC CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacTacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAagcgtagccatcAGATCGAGACCCGACGC chr7:7505233-Reference-T;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative A ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca AGATCCAATTCG CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAagatccaattcgAGATCGAGACCCGACGC chr7:7505233-Alternative-A;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative A ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ACTGTCGCTGGT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAactgtcgctggtAGATCGAGACCCGACGC chr7:7505233-Alternative-A;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Variant C ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca GGTGATTAGCGG CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAggtgattagcggAGATCGAGACCCGACGC chr7:7505233-Variant-C;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Variant C ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ACGATGGAACTA CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAacgatggaactaAGATCGAGACCCGACGC chr7:7505233-Variant-C;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Alternative A ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca AGCAACGAACCT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacAacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAagcaacgaacctAGATCGAGACCCGACGC chr7:7505233-Alternative-A;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Variant C ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca CGACATTCTGGT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAcgacattctggtAGATCGAGACCCGACGC chr7:7505233-Variant-C;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Variant C ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ATTCCTGACCAT CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAattcctgaccatAGATCGAGACCCGACGC chr7:7505233-Variant-C;Patient-35 chr7:7505233-TC DeNovo Patient-35 intronic COL28A1 NA 0.000148471 -0.01 2.52 0 COL28A1 70226 Variant C ttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggca ATCATACCTGAG CGACGCGGTCTCTCTCTttgcttaggtaaacaaagcagccgagaagctcgaactgggtggagcccacCacagctcaaggaggcctgcctgcctctgtaggctccacctctgggggcaAGAGGGAGACGGACGTCTCAATAAatcatacctgagAGATCGAGACCCGACGC chr7:7505233-Variant-C;Patient-35 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative C tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaa AATACGCTGGAA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAaatacgctggaaAGATCGAGACCCGACGC chr7:80311650-Alternative-C;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative C tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaa GCGATGCCTATC CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAgcgatgcctatcAGATCGAGACCCGACGC chr7:80311650-Alternative-C;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Reference G tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaa AACGCAGAATGT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAaacgcagaatgtAGATCGAGACCCGACGC chr7:80311650-Reference-G;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative T tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaa AAGGCTAGTGAA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAaaggctagtgaaAGATCGAGACCCGACGC chr7:80311650-Alternative-T;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative C tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaa CTGTTAGGCTTA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAActgttaggcttaAGATCGAGACCCGACGC chr7:80311650-Alternative-C;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative T tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaa ACTCGGATGATT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAactcggatgattAGATCGAGACCCGACGC chr7:80311650-Alternative-T;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Variant A tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaa ACGTCCGGACTT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAacgtccggacttAGATCGAGACCCGACGC chr7:80311650-Variant-A;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Reference G tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaa ATTCCGACGATA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAattccgacgataAGATCGAGACCCGACGC chr7:80311650-Reference-G;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Variant A tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaa CTGAATTCCTGT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAActgaattcctgtAGATCGAGACCCGACGC chr7:80311650-Variant-A;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Reference G tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaa GATCAACACCGA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAgatcaacaccgaAGATCGAGACCCGACGC chr7:80311650-Reference-G;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Reference G tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaa GTCATCACATCG CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAgtcatcacatcgAGATCGAGACCCGACGC chr7:80311650-Reference-G;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative T tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaa GGTCAATTACGT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAggtcaattacgtAGATCGAGACCCGACGC chr7:80311650-Alternative-T;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative T tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaa GATTGCAAGTCA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAgattgcaagtcaAGATCGAGACCCGACGC chr7:80311650-Alternative-T;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Reference G tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaa CGAGCTACGGTT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatGagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAcgagctacggttAGATCGAGACCCGACGC chr7:80311650-Reference-G;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative C tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaa CATCGGCAGTAT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAcatcggcagtatAGATCGAGACCCGACGC chr7:80311650-Alternative-C;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Variant A tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaa GGCGGATTATAT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAggcggattatatAGATCGAGACCCGACGC chr7:80311650-Variant-A;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Variant A tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaa AGGTACTGCTAT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAaggtactgctatAGATCGAGACCCGACGC chr7:80311650-Variant-A;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative T tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaa CAGCGACTAATT CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatTagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAcagcgactaattAGATCGAGACCCGACGC chr7:80311650-Alternative-T;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Variant A tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaa ACTTACTGGCGC CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatAagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAacttactggcgcAGATCGAGACCCGACGC chr7:80311650-Variant-A;Patient-110 chr7:80311650-GA DeNovo Patient-110 intergenic 3.2e-05 3.98e-05 -0.38 0.21 -1.21 CD36 80145 Alternative C tatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaa CGTACTAGACTA CGACGCGGTCTCTCTCTtatgaaatgggcgaattgatgtgagggtttaaacattgataccattagatCagttaaacttttatagtcaactattatcattcattgccagactgtagaaAGAGGGAGACGGACGTCTCAATAAcgtactagactaAGATCGAGACCCGACGC chr7:80311650-Alternative-C;Patient-110 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Reference C atattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CAGGAGCGTAGT CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAcaggagcgtagtAGATCGAGACCCGACGC chr7:82038454-Reference-C;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Reference C atattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CTATCGAATACG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAActatcgaatacgAGATCGAGACCCGACGC chr7:82038454-Reference-C;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Variant T atattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta AGGACACATAGT CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAaggacacatagtAGATCGAGACCCGACGC chr7:82038454-Variant-T;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative G atattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta AGTGTAGGTACG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAagtgtaggtacgAGATCGAGACCCGACGC chr7:82038454-Alternative-G;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Reference C atattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CTCATTCTAACG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAActcattctaacgAGATCGAGACCCGACGC chr7:82038454-Reference-C;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Reference C atattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GAAGAGTAACCG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAgaagagtaaccgAGATCGAGACCCGACGC chr7:82038454-Reference-C;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Variant T atattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CAGCTCGTCAGA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAcagctcgtcagaAGATCGAGACCCGACGC chr7:82038454-Variant-T;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative G atattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta AGATACACGCAA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAagatacacgcaaAGATCGAGACCCGACGC chr7:82038454-Alternative-G;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Variant T atattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GGTCTTATAGCA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAggtcttatagcaAGATCGAGACCCGACGC chr7:82038454-Variant-T;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Reference C atattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta ACATGCGGTAGG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaCttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAacatgcggtaggAGATCGAGACCCGACGC chr7:82038454-Reference-C;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative A atattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta ACTCATGAATCG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAactcatgaatcgAGATCGAGACCCGACGC chr7:82038454-Alternative-A;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative G atattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GTGCCGTTATGG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAgtgccgttatggAGATCGAGACCCGACGC chr7:82038454-Alternative-G;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative A atattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CGGACGTAGTCA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAcggacgtagtcaAGATCGAGACCCGACGC chr7:82038454-Alternative-A;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative G atattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GTCAGTACACGA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAgtcagtacacgaAGATCGAGACCCGACGC chr7:82038454-Alternative-G;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative G atattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GGCGAGAATATT CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaGttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAggcgagaatattAGATCGAGACCCGACGC chr7:82038454-Alternative-G;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative A atattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta AGTAATCCGTGA CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAagtaatccgtgaAGATCGAGACCCGACGC chr7:82038454-Alternative-A;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Variant T atattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta GACTACAACCGG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAgactacaaccggAGATCGAGACCCGACGC chr7:82038454-Variant-T;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative A atattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta CGAGTTACTGTT CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAcgagttactgttAGATCGAGACCCGACGC chr7:82038454-Alternative-A;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Alternative A atattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta AAGTAACCACAG CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaAttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAaagtaaccacagAGATCGAGACCCGACGC chr7:82038454-Alternative-A;Patient-55 chr7:82038454-CT DeNovo Patient-55 intronic CACNA2D1 NA 4.95e-05 0 2.65 0.59 CACNA2D1 34576 Variant T atattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttcta ACCATTGATCCT CGACGCGGTCTCTCTCTatattaattatttctttggctatatctataagttccccagcttgtaattaTttgagaacaaataaaaggccaaaatccatagtctttccagtgccttctaAGAGGGAGACGGACGTCTCAATAAaccattgatcctAGATCGAGACCCGACGC chr7:82038454-Variant-T;Patient-55 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Variant C ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa AAGTGCGATCAT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAaagtgcgatcatAGATCGAGACCCGACGC chr7:83239315-Variant-C;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Variant C ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CTCGGAGGTCAT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAActcggaggtcatAGATCGAGACCCGACGC chr7:83239315-Variant-C;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Variant C ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CACACAACGTAC CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAcacacaacgtacAGATCGAGACCCGACGC chr7:83239315-Variant-C;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Variant C ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CGCGTCAAGCTA CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAcgcgtcaagctaAGATCGAGACCCGACGC chr7:83239315-Variant-C;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Reference A ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa ACGTACGAAGAT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAacgtacgaagatAGATCGAGACCCGACGC chr7:83239315-Reference-A;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative G ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa GGATCGTCCGAA CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAggatcgtccgaaAGATCGAGACCCGACGC chr7:83239315-Alternative-G;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Variant C ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CGATACACGTCA CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaCataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAcgatacacgtcaAGATCGAGACCCGACGC chr7:83239315-Variant-C;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Reference A ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa ATAGCTATGACC CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAatagctatgaccAGATCGAGACCCGACGC chr7:83239315-Reference-A;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Reference A ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CTTAGTGACGGC CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAActtagtgacggcAGATCGAGACCCGACGC chr7:83239315-Reference-A;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative T ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa GCCTTATATGAG CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAgccttatatgagAGATCGAGACCCGACGC chr7:83239315-Alternative-T;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative T ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa GGTGTATGGACG CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAggtgtatggacgAGATCGAGACCCGACGC chr7:83239315-Alternative-T;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative G ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa GCGTAATACGGC CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAgcgtaatacggcAGATCGAGACCCGACGC chr7:83239315-Alternative-G;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Reference A ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa ATCAAGCGCGTC CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAatcaagcgcgtcAGATCGAGACCCGACGC chr7:83239315-Reference-A;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Reference A ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa GGACGGTCCATT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaAataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAggacggtccattAGATCGAGACCCGACGC chr7:83239315-Reference-A;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative G ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CGCGACATCAAT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAcgcgacatcaatAGATCGAGACCCGACGC chr7:83239315-Alternative-G;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative G ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa AATGTGGTCTGT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAaatgtggtctgtAGATCGAGACCCGACGC chr7:83239315-Alternative-G;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative T ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa CGCATGTTCCTA CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAcgcatgttcctaAGATCGAGACCCGACGC chr7:83239315-Alternative-T;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative T ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa AATGCCATCACA CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAaatgccatcacaAGATCGAGACCCGACGC chr7:83239315-Alternative-T;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative G ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa AGTAGATTGTGG CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaGataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAagtagattgtggAGATCGAGACCCGACGC chr7:83239315-Alternative-G;Patient-12 chr7:83239315-AC DeNovo Patient-12 intronic SEMA3E NA 4.95e-05 NA NA NA SEMA3E 39163 Alternative T ccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataa AACCGTCCTTAT CGACGCGGTCTCTCTCTccctctatttggaaaggaaattaaacgaaatacagtacaatgaactgcaaTataaaatcaaaatatttctggaaaatattatctatcaatttaaagataaAGAGGGAGACGGACGTCTCAATAAaaccgtccttatAGATCGAGACCCGACGC chr7:83239315-Alternative-T;Patient-12 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative T cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GACATTGCGGAG CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgacattgcggagAGATCGAGACCCGACGC chr7:83349806-Alternative-T;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Variant G cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc ATCCGGTCCGAA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAatccggtccgaaAGATCGAGACCCGACGC chr7:83349806-Variant-G;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Variant G cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CTCGGTGTCACT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAActcggtgtcactAGATCGAGACCCGACGC chr7:83349806-Variant-G;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative C cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CAGACGGCCATT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAcagacggccattAGATCGAGACCCGACGC chr7:83349806-Alternative-C;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative C cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc ACGATTAGCAGA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAacgattagcagaAGATCGAGACCCGACGC chr7:83349806-Alternative-C;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Reference A cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc ATTCCACGAGAT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAattccacgagatAGATCGAGACCCGACGC chr7:83349806-Reference-A;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Reference A cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CGCTCATGGTAC CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAcgctcatggtacAGATCGAGACCCGACGC chr7:83349806-Reference-A;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative T cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GAGATACCGCCA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgagataccgccaAGATCGAGACCCGACGC chr7:83349806-Alternative-T;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Variant G cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CAGGTGTTGATT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAcaggtgttgattAGATCGAGACCCGACGC chr7:83349806-Variant-G;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Variant G cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CGCGGTACCTTA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAcgcggtaccttaAGATCGAGACCCGACGC chr7:83349806-Variant-G;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Variant G cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc AGGAGATGTTCA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccGccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAaggagatgttcaAGATCGAGACCCGACGC chr7:83349806-Variant-G;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative T cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GCATACCAAGCG CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgcataccaagcgAGATCGAGACCCGACGC chr7:83349806-Alternative-T;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative C cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GCATGTCCGTCT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgcatgtccgtctAGATCGAGACCCGACGC chr7:83349806-Alternative-C;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Reference A cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc AGTTGGCTGCCA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAagttggctgccaAGATCGAGACCCGACGC chr7:83349806-Reference-A;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative T cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc CTCATGTATACG CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAActcatgtatacgAGATCGAGACCCGACGC chr7:83349806-Alternative-T;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative T cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GAGATCTAGCAA CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccTccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgagatctagcaaAGATCGAGACCCGACGC chr7:83349806-Alternative-T;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Reference A cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GATAGATCGCTT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgatagatcgcttAGATCGAGACCCGACGC chr7:83349806-Reference-A;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative C cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc AAGCGGCAGCAT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAaagcggcagcatAGATCGAGACCCGACGC chr7:83349806-Alternative-C;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Reference A cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GATGCTTATGGT CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccAccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgatgcttatggtAGATCGAGACCCGACGC chr7:83349806-Reference-A;Patient-28 chr7:83349806-AG DeNovo Patient-28 intergenic 0.000159 0.000513 0.14 4.96 1.13 SEMA3E 71326 Alternative C cgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgc GTCAGACGTCAC CGACGCGGTCTCTCTCTcgtttgctactgcttcagagtgggtactaatgaagataccaaggctacccCccacaggctcaggaaataagctgtagtgtgtgccctaataatgctgtgcAGAGGGAGACGGACGTCTCAATAAgtcagacgtcacAGATCGAGACCCGACGC chr7:83349806-Alternative-C;Patient-28 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative C aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AAGGCGGACAAC CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAaaggcggacaacAGATCGAGACCCGACGC chr7:83365574-Alternative-C;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative C aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AGGCGCGACTTA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAaggcgcgacttaAGATCGAGACCCGACGC chr7:83365574-Alternative-C;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative C aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttc CTGGTCTAATGA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAActggtctaatgaAGATCGAGACCCGACGC chr7:83365574-Alternative-C;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Reference A aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttc CGTTGAGAGCTA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAcgttgagagctaAGATCGAGACCCGACGC chr7:83365574-Reference-A;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Reference A aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AGTTACGGACTT CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAagttacggacttAGATCGAGACCCGACGC chr7:83365574-Reference-A;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Reference A aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GACCGAACTATA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgaccgaactataAGATCGAGACCCGACGC chr7:83365574-Reference-A;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative T aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GTTGGTCATCAA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgttggtcatcaaAGATCGAGACCCGACGC chr7:83365574-Alternative-T;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Variant G aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AAGACCGCCGAA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAaagaccgccgaaAGATCGAGACCCGACGC chr7:83365574-Variant-G;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Reference A aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttc CGTAGGTCGTGT CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAcgtaggtcgtgtAGATCGAGACCCGACGC chr7:83365574-Reference-A;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative C aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GTCTCGAATACT CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgtctcgaatactAGATCGAGACCCGACGC chr7:83365574-Alternative-C;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative C aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GTAGGTGGACAC CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatCtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgtaggtggacacAGATCGAGACCCGACGC chr7:83365574-Alternative-C;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Reference A aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GGCCGTCAGTAA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatAtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAggccgtcagtaaAGATCGAGACCCGACGC chr7:83365574-Reference-A;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative T aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttc ACTTCAGGTTCT CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAacttcaggttctAGATCGAGACCCGACGC chr7:83365574-Alternative-T;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative T aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GTTCCTAATGAG CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgttcctaatgagAGATCGAGACCCGACGC chr7:83365574-Alternative-T;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative T aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttc CGTTCAAGCATA CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAcgttcaagcataAGATCGAGACCCGACGC chr7:83365574-Alternative-T;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Variant G aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GATGCTTGCGCT CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgatgcttgcgctAGATCGAGACCCGACGC chr7:83365574-Variant-G;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Alternative T aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttc GTTAAGTGAACG CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatTtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAgttaagtgaacgAGATCGAGACCCGACGC chr7:83365574-Alternative-T;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Variant G aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AATAGTCCATCG CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAaatagtccatcgAGATCGAGACCCGACGC chr7:83365574-Variant-G;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Variant G aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttc AGCTTGATCTTC CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAAagcttgatcttcAGATCGAGACCCGACGC chr7:83365574-Variant-G;Patient-55 chr7:83365574-AG Inherited Patient-55 intergenic 0.000319 0.00103 -0.18 0.82 -4.53 SEMA3E 87094 Variant G aaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttc CTCAACGAACAG CGACGCGGTCTCTCTCTaaacgtcttttgaaatacagcatagcgtatatatgtgtgtatatacatatGtatgcataaatgtatatatgcatatatttagaaatttatattggttttcAGAGGGAGACGGACGTCTCAATAActcaacgaacagAGATCGAGACCCGACGC chr7:83365574-Variant-G;Patient-55 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Variant G ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGCATATAGCAA CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgcatatagcaaAGATCGAGACCCGACGC chr7:83919301-Variant-G;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Reference A ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGTCACGATAGG CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgtcacgataggAGATCGAGACCCGACGC chr7:83919301-Reference-A;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative C ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt GGTCACTAGCGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAggtcactagcgtAGATCGAGACCCGACGC chr7:83919301-Alternative-C;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative C ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt ACGAGCATCAAG CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAacgagcatcaagAGATCGAGACCCGACGC chr7:83919301-Alternative-C;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative T ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt AGCAGAAGATGA CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAagcagaagatgaAGATCGAGACCCGACGC chr7:83919301-Alternative-T;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Reference A ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt GATTCCGATAGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAgattccgatagtAGATCGAGACCCGACGC chr7:83919301-Reference-A;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Variant G ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGGAATACTTGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcggaatacttgtAGATCGAGACCCGACGC chr7:83919301-Variant-G;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Variant G ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt ACTTGTCATCGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAacttgtcatcgtAGATCGAGACCCGACGC chr7:83919301-Variant-G;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative C ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CAGTCCGGAACA CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcagtccggaacaAGATCGAGACCCGACGC chr7:83919301-Alternative-C;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Variant G ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt GCGCGTCCTAAT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAgcgcgtcctaatAGATCGAGACCCGACGC chr7:83919301-Variant-G;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Variant G ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt AGCATGTATTCG CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaGacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAagcatgtattcgAGATCGAGACCCGACGC chr7:83919301-Variant-G;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Reference A ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGTTCCAAGGAC CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgttccaaggacAGATCGAGACCCGACGC chr7:83919301-Reference-A;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative T ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt ACCATGGAGTGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAaccatggagtgtAGATCGAGACCCGACGC chr7:83919301-Alternative-T;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative T ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CATGAGGTGATA CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcatgaggtgataAGATCGAGACCCGACGC chr7:83919301-Alternative-T;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative T ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt GCGCATAGTTCG CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAgcgcatagttcgAGATCGAGACCCGACGC chr7:83919301-Alternative-T;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative T ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt AGCGTGGTATCG CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaTacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAagcgtggtatcgAGATCGAGACCCGACGC chr7:83919301-Alternative-T;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative C ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt GTACAAGCTGTT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAgtacaagctgttAGATCGAGACCCGACGC chr7:83919301-Alternative-C;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Alternative C ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGATATTGAACC CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaCacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgatattgaaccAGATCGAGACCCGACGC chr7:83919301-Alternative-C;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Reference A ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGAATCGATTGT CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgaatcgattgtAGATCGAGACCCGACGC chr7:83919301-Reference-A;Patient-93 chr7:83919301-AG Inherited Patient-93 intergenic 3.2e-05 0.000513 -0.03 2.25 0.24 SEMA3A 95083 Reference A ataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcatt CGATCAAGACGC CGACGCGGTCTCTCTCTataaagaggagtgaagtaatgatacatgctaaaattgaatgaactttgaaAacatgctaagtgaaaagtcacaaaagaacagaaattatataatttcattAGAGGGAGACGGACGTCTCAATAAcgatcaagacgcAGATCGAGACCCGACGC chr7:83919301-Reference-A;Patient-93 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative C gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctat CGAATGTAGTCT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAcgaatgtagtctAGATCGAGACCCGACGC chr7:84770226-Alternative-C;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative C gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctat CAGGTATGACTT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAcaggtatgacttAGATCGAGACCCGACGC chr7:84770226-Alternative-C;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Variant A gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctat AGACGATTACGA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAagacgattacgaAGATCGAGACCCGACGC chr7:84770226-Variant-A;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Variant A gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctat GTGTCACAGATA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgtgtcacagataAGATCGAGACCCGACGC chr7:84770226-Variant-A;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Variant A gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctat GTAACGTTGACT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgtaacgttgactAGATCGAGACCCGACGC chr7:84770226-Variant-A;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative C gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctat GCGTGGAGTGAT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgcgtggagtgatAGATCGAGACCCGACGC chr7:84770226-Alternative-C;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Variant A gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctat CTATGATTGTGG CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAActatgattgtggAGATCGAGACCCGACGC chr7:84770226-Variant-A;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative C gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctat AGTGTCGCGCTT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAagtgtcgcgcttAGATCGAGACCCGACGC chr7:84770226-Alternative-C;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative C gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctat ACACGGTAGTAA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaCttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAacacggtagtaaAGATCGAGACCCGACGC chr7:84770226-Alternative-C;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative T gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctat AGCTGCGAGTCA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAagctgcgagtcaAGATCGAGACCCGACGC chr7:84770226-Alternative-T;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative T gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctat ACTCGGTGTGCA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAactcggtgtgcaAGATCGAGACCCGACGC chr7:84770226-Alternative-T;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Variant A gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctat ATAGGAGCGAAC CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaAttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAataggagcgaacAGATCGAGACCCGACGC chr7:84770226-Variant-A;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative T gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctat GTGTTAAGGCTT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgtgttaaggcttAGATCGAGACCCGACGC chr7:84770226-Alternative-T;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Reference G gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctat CTAAGCGTAGCG CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAActaagcgtagcgAGATCGAGACCCGACGC chr7:84770226-Reference-G;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative T gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctat GAGATAGCGTTC CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgagatagcgttcAGATCGAGACCCGACGC chr7:84770226-Alternative-T;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Alternative T gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctat AGCCGATGCAAT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaTttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAagccgatgcaatAGATCGAGACCCGACGC chr7:84770226-Alternative-T;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Reference G gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctat CGACGCTTGCTT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAcgacgcttgcttAGATCGAGACCCGACGC chr7:84770226-Reference-G;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Reference G gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctat ACGAACAGCTGA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAacgaacagctgaAGATCGAGACCCGACGC chr7:84770226-Reference-G;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Reference G gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctat GTACGGTGGTCT CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAgtacggtggtctAGATCGAGACCCGACGC chr7:84770226-Reference-G;Patient-25 chr7:84770226-GA Inherited Patient-25 intergenic 3.2e-05 6.28e-05 -0.03 2.14 -0.15 SEMA3D 18978 Reference G gtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctat GGACACCGACTA CGACGCGGTCTCTCTCTgtaggtatacaaaaagaaaatcaaaacaccatcttcctatcaacacctcaGttagagatgatcactgttaaaatcttctttatttttccctattttctatAGAGGGAGACGGACGTCTCAATAAggacaccgactaAGATCGAGACCCGACGC chr7:84770226-Reference-G;Patient-25 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Reference C aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca ACTCATCGGTAA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAactcatcggtaaAGATCGAGACCCGACGC chr7:84775762-Reference-C;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative A aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CAAGTATTCCGT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcaagtattccgtAGATCGAGACCCGACGC chr7:84775762-Alternative-A;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative A aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca ATAGGATTCGAG CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAataggattcgagAGATCGAGACCCGACGC chr7:84775762-Alternative-A;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Reference C aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CGTAGGATGCGA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcgtaggatgcgaAGATCGAGACCCGACGC chr7:84775762-Reference-C;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative A aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca ACCTTGGTGACG CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAaccttggtgacgAGATCGAGACCCGACGC chr7:84775762-Alternative-A;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Reference C aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca GGTCACGACACT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAggtcacgacactAGATCGAGACCCGACGC chr7:84775762-Reference-C;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Reference C aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CATCAGGTAGTT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcatcaggtagttAGATCGAGACCCGACGC chr7:84775762-Reference-C;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative A aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CAACGGCTCCTA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcaacggctcctaAGATCGAGACCCGACGC chr7:84775762-Alternative-A;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative G aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CGCGATGTCGAA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcgcgatgtcgaaAGATCGAGACCCGACGC chr7:84775762-Alternative-G;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Reference C aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CGTTGAACTCAA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactCgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcgttgaactcaaAGATCGAGACCCGACGC chr7:84775762-Reference-C;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Variant T aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CAGTTCGACCTT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcagttcgaccttAGATCGAGACCCGACGC chr7:84775762-Variant-T;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Variant T aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CGTGTTCGTCGT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcgtgttcgtcgtAGATCGAGACCCGACGC chr7:84775762-Variant-T;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Variant T aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca GTCATAGCCGAA CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAgtcatagccgaaAGATCGAGACCCGACGC chr7:84775762-Variant-T;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Variant T aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CGTCGCACCTAT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcgtcgcacctatAGATCGAGACCCGACGC chr7:84775762-Variant-T;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Variant T aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CACTAGTGCATC CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactTgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcactagtgcatcAGATCGAGACCCGACGC chr7:84775762-Variant-T;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative G aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca ACTAAGGCTAAC CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAactaaggctaacAGATCGAGACCCGACGC chr7:84775762-Alternative-G;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative G aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca CAAGCTATCGAT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAcaagctatcgatAGATCGAGACCCGACGC chr7:84775762-Alternative-G;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative A aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca GCGCTCCACAAT CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactAgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAgcgctccacaatAGATCGAGACCCGACGC chr7:84775762-Alternative-A;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative G aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca AGATGCGTCGTC CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAagatgcgtcgtcAGATCGAGACCCGACGC chr7:84775762-Alternative-G;Patient-34 chr7:84775762-CT Inherited Patient-34 intergenic NA 6.28e-05 -0.11 1.35 0.15 SEMA3D 24514 Alternative G aatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgca GTCGTCTTCTGG CGACGCGGTCTCTCTCTaatacaaaaattagctgggtgtggtggcaggacctgtaaccccagctactGgggaggctgaggaaggggaatcccttgaacctgggaggcggaggttgcaAGAGGGAGACGGACGTCTCAATAAgtcgtcttctggAGATCGAGACCCGACGC chr7:84775762-Alternative-G;Patient-34 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative C acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GGTTGGTTGCGT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAggttggttgcgtAGATCGAGACCCGACGC chr7:86238422-Alternative-C;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative C acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GTATTGACGTGT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgtattgacgtgtAGATCGAGACCCGACGC chr7:86238422-Alternative-C;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative C acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GAGCTGTTGCAC CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgagctgttgcacAGATCGAGACCCGACGC chr7:86238422-Alternative-C;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative C acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CGTCGTGTCCAT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAcgtcgtgtccatAGATCGAGACCCGACGC chr7:86238422-Alternative-C;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Reference A acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ACAAGCGATCAT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAacaagcgatcatAGATCGAGACCCGACGC chr7:86238422-Reference-A;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Reference A acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GAGTACGTGCAG CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgagtacgtgcagAGATCGAGACCCGACGC chr7:86238422-Reference-A;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Variant G acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GACCTTGGTGCA CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgaccttggtgcaAGATCGAGACCCGACGC chr7:86238422-Variant-G;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative C acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GATATCGCATGT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcCcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgatatcgcatgtAGATCGAGACCCGACGC chr7:86238422-Alternative-C;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Reference A acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ACATGACCGGAC CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAacatgaccggacAGATCGAGACCCGACGC chr7:86238422-Reference-A;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Reference A acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttctt GTACTGCGTCCA CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAgtactgcgtccaAGATCGAGACCCGACGC chr7:86238422-Reference-A;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Variant G acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ACGGTCATTGAT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAacggtcattgatAGATCGAGACCCGACGC chr7:86238422-Variant-G;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Variant G acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CGGTGTCGTTCA CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAcggtgtcgttcaAGATCGAGACCCGACGC chr7:86238422-Variant-G;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative T acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ATTCTTAGGCGT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAattcttaggcgtAGATCGAGACCCGACGC chr7:86238422-Alternative-T;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative T acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ACAGGCTCCTAC CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAacaggctcctacAGATCGAGACCCGACGC chr7:86238422-Alternative-T;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Reference A acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CGTAATACCGGC CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcAcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAcgtaataccggcAGATCGAGACCCGACGC chr7:86238422-Reference-A;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Variant G acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttctt AGACGCGAGAAG CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAagacgcgagaagAGATCGAGACCCGACGC chr7:86238422-Variant-G;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative T acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttctt ACGAGAGTAGAA CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAacgagagtagaaAGATCGAGACCCGACGC chr7:86238422-Alternative-T;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative T acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CTCTAGGAGCGT CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAActctaggagcgtAGATCGAGACCCGACGC chr7:86238422-Alternative-T;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Variant G acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CGACCAAGACGA CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcGcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAcgaccaagacgaAGATCGAGACCCGACGC chr7:86238422-Variant-G;Patient-60 chr7:86238422-AG DeNovo Patient-60 intergenic NA 0.000513 NA NA NA GRM3 34807 Alternative T acccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttctt CAGTAGTGTAAC CGACGCGGTCTCTCTCTacccaagtaataacatcaataattgaagacaaagctttggacaatgtctcTcagatctaataaaactctcaatgaactaggcatataaggaaactttcttAGAGGGAGACGGACGTCTCAATAAcagtagtgtaacAGATCGAGACCCGACGC chr7:86238422-Alternative-T;Patient-60 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Variant G agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca AGTCAGTAGAGT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAagtcagtagagtAGATCGAGACCCGACGC chr7:87119037-Variant-G;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Variant G agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca CTAAGGTCACCA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAActaaggtcaccaAGATCGAGACCCGACGC chr7:87119037-Variant-G;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Variant G agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ACACAGACGGAC CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAacacagacggacAGATCGAGACCCGACGC chr7:87119037-Variant-G;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative A agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca GGATCTAACGTT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAggatctaacgttAGATCGAGACCCGACGC chr7:87119037-Alternative-A;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Variant G agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca AAGCGTGACGAC CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAaagcgtgacgacAGATCGAGACCCGACGC chr7:87119037-Variant-G;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Reference T agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca AGCTAATTGCCG CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAagctaattgccgAGATCGAGACCCGACGC chr7:87119037-Reference-T;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Variant G agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca GAGCTAGGTGGT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaGactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAgagctaggtggtAGATCGAGACCCGACGC chr7:87119037-Variant-G;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative C agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca AGGCTGTAACGG CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAaggctgtaacggAGATCGAGACCCGACGC chr7:87119037-Alternative-C;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative C agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ACTAATACGTGC CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAactaatacgtgcAGATCGAGACCCGACGC chr7:87119037-Alternative-C;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative C agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca CGCATTATCGTT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAcgcattatcgttAGATCGAGACCCGACGC chr7:87119037-Alternative-C;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Reference T agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca GACTGACTTCAA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAgactgacttcaaAGATCGAGACCCGACGC chr7:87119037-Reference-T;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative A agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca CTTGGTTGGTAA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAActtggttggtaaAGATCGAGACCCGACGC chr7:87119037-Alternative-A;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative C agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ACTAACGGCCAA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAactaacggccaaAGATCGAGACCCGACGC chr7:87119037-Alternative-C;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Reference T agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ACGCGGAAGACA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAacgcggaagacaAGATCGAGACCCGACGC chr7:87119037-Reference-T;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative C agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca GGTCAAGCTAGA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaCactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAggtcaagctagaAGATCGAGACCCGACGC chr7:87119037-Alternative-C;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Reference T agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca AAGCAGACGCTT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAaagcagacgcttAGATCGAGACCCGACGC chr7:87119037-Reference-T;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative A agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca GGATGATCAACA CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAggatgatcaacaAGATCGAGACCCGACGC chr7:87119037-Alternative-A;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative A agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ATCTCAACGACG CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAatctcaacgacgAGATCGAGACCCGACGC chr7:87119037-Alternative-A;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Reference T agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca ACTTAGGTCGAC CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaTactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAacttaggtcgacAGATCGAGACCCGACGC chr7:87119037-Reference-T;Patient-88 chr7:87119037-TG DeNovo Patient-88 intergenic NA 0.000512821 0.01 2.75 0.11 ABCB4 14017 Alternative A agataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacacca CGACGGTATCTT CGACGCGGTCTCTCTCTagataccccatgtttatggattggaagaatcaatgttattaaaatgtccaAactatctaaagtgatctacagatttaatgcagtctctatcaaaacaccaAGAGGGAGACGGACGTCTCAATAAcgacggtatcttAGATCGAGACCCGACGC chr7:87119037-Alternative-A;Patient-88 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Variant G atgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggt CAAGAGATGCAG CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcaagagatgcagAGATCGAGACCCGACGC chr7:93199634-Variant-G;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Variant G atgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggt GTGATGACCGTC CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgtgatgaccgtcAGATCGAGACCCGACGC chr7:93199634-Variant-G;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Variant G atgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggt GTAACCACACGT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgtaaccacacgtAGATCGAGACCCGACGC chr7:93199634-Variant-G;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Variant G atgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggt CAACGTGCTATC CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcaacgtgctatcAGATCGAGACCCGACGC chr7:93199634-Variant-G;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Variant G atgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggt ACGTGCTTGATA CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataGtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAacgtgcttgataAGATCGAGACCCGACGC chr7:93199634-Variant-G;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Reference T atgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggt CATTCATGCTGT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcattcatgctgtAGATCGAGACCCGACGC chr7:93199634-Reference-T;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative A atgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggt GTTCATTGCGGC CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgttcattgcggcAGATCGAGACCCGACGC chr7:93199634-Alternative-A;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Reference T atgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggt GATACCTTGAGT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgataccttgagtAGATCGAGACCCGACGC chr7:93199634-Reference-T;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative A atgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggt CGGACAACACGT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcggacaacacgtAGATCGAGACCCGACGC chr7:93199634-Alternative-A;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative A atgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggt GATACGAGATGG CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgatacgagatggAGATCGAGACCCGACGC chr7:93199634-Alternative-A;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative A atgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggt GCGTCTAGCACA CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgcgtctagcacaAGATCGAGACCCGACGC chr7:93199634-Alternative-A;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Reference T atgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggt CGGTAAGCCAAG CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcggtaagccaagAGATCGAGACCCGACGC chr7:93199634-Reference-T;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Reference T atgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggt ACGGCTCTCAAT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAacggctctcaatAGATCGAGACCCGACGC chr7:93199634-Reference-T;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative C atgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggt CGCTGAATCGCT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAcgctgaatcgctAGATCGAGACCCGACGC chr7:93199634-Alternative-C;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative A atgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggt CTGTCTTGGTAT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataAtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAActgtcttggtatAGATCGAGACCCGACGC chr7:93199634-Alternative-A;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative C atgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggt GAGCATACGCGA CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAgagcatacgcgaAGATCGAGACCCGACGC chr7:93199634-Alternative-C;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Reference T atgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggt ACTCGTAGCTAT CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataTtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAactcgtagctatAGATCGAGACCCGACGC chr7:93199634-Reference-T;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative C atgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggt AGAATGTGCCGG CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAagaatgtgccggAGATCGAGACCCGACGC chr7:93199634-Alternative-C;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative C atgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggt AGAACGTCGTTA CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAagaacgtcgttaAGATCGAGACCCGACGC chr7:93199634-Alternative-C;Patient-54 chr7:93199634-TG DeNovo Patient-54 intronic CALCR NA 0.00016 -0.14 1.08 -0.04 CALCR 4407 Alternative C atgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggt AGAGTGTGGATA CGACGCGGTCTCTCTCTatgttctataacactgaagttagcacatagaaacttaatgtgactgaataCtaggagaataaatattttattaatgataataaaaacttaaactagaggtAGAGGGAGACGGACGTCTCAATAAagagtgtggataAGATCGAGACCCGACGC chr7:93199634-Alternative-C;Patient-54 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Variant G cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttcc GATCCTTGGCGT CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAgatccttggcgtAGATCGAGACCCGACGC chr7:93269455-Variant-G;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Variant G cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AACGATCGTGTT CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaacgatcgtgttAGATCGAGACCCGACGC chr7:93269455-Variant-G;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Variant G cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AGCGTTGCACAC CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAagcgttgcacacAGATCGAGACCCGACGC chr7:93269455-Variant-G;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative T cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AGGCCGAACGAA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaggccgaacgaaAGATCGAGACCCGACGC chr7:93269455-Alternative-T;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Variant G cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AAGTGTCGATGA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaagtgtcgatgaAGATCGAGACCCGACGC chr7:93269455-Variant-G;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative T cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttcc GATTCCGAGTAT CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAgattccgagtatAGATCGAGACCCGACGC chr7:93269455-Alternative-T;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Variant G cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttcc ATAGACGCGGAC CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgGcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAatagacgcggacAGATCGAGACCCGACGC chr7:93269455-Variant-G;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative T cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AACGGTACTAGA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaacggtactagaAGATCGAGACCCGACGC chr7:93269455-Alternative-T;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative T cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttcc CGTTGTCATGTT CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAcgttgtcatgttAGATCGAGACCCGACGC chr7:93269455-Alternative-T;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Reference A cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttcc GACTATGAGCTA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAgactatgagctaAGATCGAGACCCGACGC chr7:93269455-Reference-A;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Reference A cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AGTACGTTGGAA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAagtacgttggaaAGATCGAGACCCGACGC chr7:93269455-Reference-A;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative T cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttcc CTCTGAAGGATA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgTcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAActctgaaggataAGATCGAGACCCGACGC chr7:93269455-Alternative-T;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Reference A cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AGGCCAATCGCA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaggccaatcgcaAGATCGAGACCCGACGC chr7:93269455-Reference-A;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Reference A cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AGCGCAAGTACC CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAagcgcaagtaccAGATCGAGACCCGACGC chr7:93269455-Reference-A;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Reference A cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AACACATACCGC CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgAcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaacacataccgcAGATCGAGACCCGACGC chr7:93269455-Reference-A;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative C cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AAGATGCGGCCA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaagatgcggccaAGATCGAGACCCGACGC chr7:93269455-Alternative-C;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative C cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttcc CGGCGATAATAA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAcggcgataataaAGATCGAGACCCGACGC chr7:93269455-Alternative-C;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative C cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AACGCCGTAGCT CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaacgccgtagctAGATCGAGACCCGACGC chr7:93269455-Alternative-C;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative C cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttcc AACGCCTACCGA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAaacgcctaccgaAGATCGAGACCCGACGC chr7:93269455-Alternative-C;Patient-7 chr7:93269455-AG DeNovo Patient-7 intergenic NA 0.000513 -0.16 0.92 0 CALCR 65412 Alternative C cttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttcc GCATAACGGTAA CGACGCGGTCTCTCTCTcttctcctggctcattctggctcaaaagctcccctactgagcaccttgtgCcccccactctgcccgccagagaacaacccccctttaactgtaattttccAGAGGGAGACGGACGTCTCAATAAgcataacggtaaAGATCGAGACCCGACGC chr7:93269455-Alternative-C;Patient-7 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative T gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AGGTTAAGTCGG CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAaggttaagtcggAGATCGAGACCCGACGC chr7:93948175-Alternative-T;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative T gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AATGGTATGCGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAaatggtatgcgtAGATCGAGACCCGACGC chr7:93948175-Alternative-T;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Variant A gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GATGTACGTTCA CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAgatgtacgttcaAGATCGAGACCCGACGC chr7:93948175-Variant-A;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Variant A gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca ATCCTATTCGGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAatcctattcggtAGATCGAGACCCGACGC chr7:93948175-Variant-A;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative T gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca CGTGGAGCTTGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAcgtggagcttgtAGATCGAGACCCGACGC chr7:93948175-Alternative-T;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative T gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GGACAGCGAGTT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAggacagcgagttAGATCGAGACCCGACGC chr7:93948175-Alternative-T;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Reference G gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca ACAACCGATAAG CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAacaaccgataagAGATCGAGACCCGACGC chr7:93948175-Reference-G;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Variant A gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GCGTAGCAAGTC CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAgcgtagcaagtcAGATCGAGACCCGACGC chr7:93948175-Variant-A;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative T gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AAGGCGTCACGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaTagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAaaggcgtcacgtAGATCGAGACCCGACGC chr7:93948175-Alternative-T;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Variant A gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AGATAGCTTGCA CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAagatagcttgcaAGATCGAGACCCGACGC chr7:93948175-Variant-A;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Variant A gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca ACTGGCATTCAA CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaAagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAactggcattcaaAGATCGAGACCCGACGC chr7:93948175-Variant-A;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative C gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca CTCTTGCGGACA CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAActcttgcggacaAGATCGAGACCCGACGC chr7:93948175-Alternative-C;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative C gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca CAGTCTTGGTGG CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAcagtcttggtggAGATCGAGACCCGACGC chr7:93948175-Alternative-C;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative C gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AACGACAGTAGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAaacgacagtagtAGATCGAGACCCGACGC chr7:93948175-Alternative-C;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative C gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GATGAGTCATAC CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAgatgagtcatacAGATCGAGACCCGACGC chr7:93948175-Alternative-C;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Alternative C gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca AAGTGATGAACC CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaCagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAaagtgatgaaccAGATCGAGACCCGACGC chr7:93948175-Alternative-C;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Reference G gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GCATTGACAGTT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAgcattgacagttAGATCGAGACCCGACGC chr7:93948175-Reference-G;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Reference G gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca ACTAAGCTTCGA CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAactaagcttcgaAGATCGAGACCCGACGC chr7:93948175-Reference-G;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Reference G gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca GATTGATCGAGT CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAgattgatcgagtAGATCGAGACCCGACGC chr7:93948175-Reference-G;Patient-105 chr7:93948175-GA DeNovo Patient-105 intergenic NA 3.85e-05 0.15 5.04 0.6 COL1A2 75697 Reference G gaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacacca CGGCTTGTTAGG CGACGCGGTCTCTCTCTgaattgaggagggaggttttcctcaagtgaaaagggtactgtcactagaaGagaggggaagtaatgctgtgtgaacaaacaataaaatccacccacaccaAGAGGGAGACGGACGTCTCAATAAcggcttgttaggAGATCGAGACCCGACGC chr7:93948175-Reference-G;Patient-105 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Reference G gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg GGTTAGCCTAAT CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAggttagcctaatAGATCGAGACCCGACGC chr7:94035373-Reference-G;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Reference G gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ATTACACACGCG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAattacacacgcgAGATCGAGACCCGACGC chr7:94035373-Reference-G;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative T gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg CGCTAAGACGCA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAcgctaagacgcaAGATCGAGACCCGACGC chr7:94035373-Alternative-T;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Reference G gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg AGTAAGCACGGC CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAagtaagcacggcAGATCGAGACCCGACGC chr7:94035373-Reference-G;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Reference G gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg AGCTGTCTAACA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAagctgtctaacaAGATCGAGACCCGACGC chr7:94035373-Reference-G;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Reference G gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg CGTCGGTGGTAA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatGgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAcgtcggtggtaaAGATCGAGACCCGACGC chr7:94035373-Reference-G;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative T gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg CGGAAGACGAAC CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAcggaagacgaacAGATCGAGACCCGACGC chr7:94035373-Alternative-T;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative T gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg AGACGGCAATCG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAagacggcaatcgAGATCGAGACCCGACGC chr7:94035373-Alternative-T;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative T gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg AGGTTATTGCCT CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAaggttattgcctAGATCGAGACCCGACGC chr7:94035373-Alternative-T;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative C gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg GTAGTGACGAGA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAgtagtgacgagaAGATCGAGACCCGACGC chr7:94035373-Alternative-C;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative C gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg CAAGCTGTTCGG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAcaagctgttcggAGATCGAGACCCGACGC chr7:94035373-Alternative-C;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative C gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg AACGGCCAGAAG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAaacggccagaagAGATCGAGACCCGACGC chr7:94035373-Alternative-C;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Variant A gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg GCAGCGTATATT CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAgcagcgtatattAGATCGAGACCCGACGC chr7:94035373-Variant-A;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Variant A gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ACGTAGTGCGCA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAacgtagtgcgcaAGATCGAGACCCGACGC chr7:94035373-Variant-A;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Variant A gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ATCTGGCTGTGG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAatctggctgtggAGATCGAGACCCGACGC chr7:94035373-Variant-A;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Variant A gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ATCAAGTGCGAC CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAatcaagtgcgacAGATCGAGACCCGACGC chr7:94035373-Variant-A;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Variant A gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg GATATGAACCGC CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatAgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAgatatgaaccgcAGATCGAGACCCGACGC chr7:94035373-Variant-A;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative T gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ACTATTCGCGCG CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatTgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAactattcgcgcgAGATCGAGACCCGACGC chr7:94035373-Alternative-T;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative C gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ACAGCGTTAGAA CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAacagcgttagaaAGATCGAGACCCGACGC chr7:94035373-Alternative-C;Patient-46 chr7:94035373-GA Inherited Patient-46 intronic COL1A2 9.6e-05 0.000602 -0.01 2.47 -0.48 COL1A2 11499 Alternative C gatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctggg ACAGCTTAGTGT CGACGCGGTCTCTCTCTgatggaaaagatgtgagagaacacctagtcctccatccttctctctcaatCgcaagaaagttaagtgacctatctagggcaatagactgagtttgctgggAGAGGGAGACGGACGTCTCAATAAacagcttagtgtAGATCGAGACCCGACGC chr7:94035373-Alternative-C;Patient-46 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Variant T ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CGATAATCTGCA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAcgataatctgcaAGATCGAGACCCGACGC chr7:95310407-Variant-T;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Variant T ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GGATGAACTTCT CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAggatgaacttctAGATCGAGACCCGACGC chr7:95310407-Variant-T;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Variant T ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaa AAGATAGACCGC CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAaagatagaccgcAGATCGAGACCCGACGC chr7:95310407-Variant-T;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative A ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaa ACTCGTTGATGA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAactcgttgatgaAGATCGAGACCCGACGC chr7:95310407-Alternative-A;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative A ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaa AGTAGATCGGAA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAagtagatcggaaAGATCGAGACCCGACGC chr7:95310407-Alternative-A;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative G ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GAATCGCTATGA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAgaatcgctatgaAGATCGAGACCCGACGC chr7:95310407-Alternative-G;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Variant T ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaa AGATCATGGCCG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAagatcatggccgAGATCGAGACCCGACGC chr7:95310407-Variant-T;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative G ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CTGGCACACAAC CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAActggcacacaacAGATCGAGACCCGACGC chr7:95310407-Alternative-G;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Variant T ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CGACCGCATAAC CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcTacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAcgaccgcataacAGATCGAGACCCGACGC chr7:95310407-Variant-T;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative A ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CTAGGCTAAGCG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAActaggctaagcgAGATCGAGACCCGACGC chr7:95310407-Alternative-A;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative G ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GAATATGTTGCG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAgaatatgttgcgAGATCGAGACCCGACGC chr7:95310407-Alternative-G;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative G ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CTGGTTATGCTT CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAActggttatgcttAGATCGAGACCCGACGC chr7:95310407-Alternative-G;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative A ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GGTCGTGTGGTT CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAggtcgtgtggttAGATCGAGACCCGACGC chr7:95310407-Alternative-A;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Reference C ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CGCGCATCGAAT CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAcgcgcatcgaatAGATCGAGACCCGACGC chr7:95310407-Reference-C;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative G ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaa AAGCGTCAGACA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcGacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAaagcgtcagacaAGATCGAGACCCGACGC chr7:95310407-Alternative-G;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Alternative A ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaa CGGACGTAATCG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcAacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAcggacgtaatcgAGATCGAGACCCGACGC chr7:95310407-Alternative-A;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Reference C ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaa ACTCCTTGTCGG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAactccttgtcggAGATCGAGACCCGACGC chr7:95310407-Reference-C;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Reference C ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GATACGTACACG CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAgatacgtacacgAGATCGAGACCCGACGC chr7:95310407-Reference-C;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Reference C ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaa ATCGACGAGATT CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAatcgacgagattAGATCGAGACCCGACGC chr7:95310407-Reference-C;Patient-84 chr7:95310407-CT Inherited Patient-84 intergenic NA 0.000513 -0.11 1.28 -1.86 DYNC1I1 91410 Reference C ctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaa GTAGCGTTCAGA CGACGCGGTCTCTCTCTctaaaaaattcttgttcatcttctgtgtttattagaatagtactactatcCacatagttgtaagagctagaaatttcagattcctctccaattcctttaaAGAGGGAGACGGACGTCTCAATAAgtagcgttcagaAGATCGAGACCCGACGC chr7:95310407-Reference-C;Patient-84 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Variant C aactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctct GTCAGGCATTCG CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgtcaggcattcgAGATCGAGACCCGACGC chr7:95331136-Variant-C;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative G aactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctct CGCATGAGAGAT CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAcgcatgagagatAGATCGAGACCCGACGC chr7:95331136-Alternative-G;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative G aactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctct GTTCCGACGTTC CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgttccgacgttcAGATCGAGACCCGACGC chr7:95331136-Alternative-G;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Variant C aactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctct ACCTATCAGCAA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAacctatcagcaaAGATCGAGACCCGACGC chr7:95331136-Variant-C;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative G aactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctct GTATAAGTGACG CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgtataagtgacgAGATCGAGACCCGACGC chr7:95331136-Alternative-G;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative G aactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctct GGTTGTCTGTGG CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAggttgtctgtggAGATCGAGACCCGACGC chr7:95331136-Alternative-G;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Variant C aactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctct GAATGACCGTAA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgaatgaccgtaaAGATCGAGACCCGACGC chr7:95331136-Variant-C;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Reference T aactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctct ATCTGCGAATGT CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAatctgcgaatgtAGATCGAGACCCGACGC chr7:95331136-Reference-T;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative G aactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctct GACGCAGATACG CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgGtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgacgcagatacgAGATCGAGACCCGACGC chr7:95331136-Alternative-G;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative A aactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctct ACCTTACGGTAA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAaccttacggtaaAGATCGAGACCCGACGC chr7:95331136-Alternative-A;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Reference T aactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctct AGTGTCGCCAAT CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAagtgtcgccaatAGATCGAGACCCGACGC chr7:95331136-Reference-T;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative A aactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctct CTCGCAAGCGAA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAActcgcaagcgaaAGATCGAGACCCGACGC chr7:95331136-Alternative-A;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative A aactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctct AGTTACCGATAC CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAagttaccgatacAGATCGAGACCCGACGC chr7:95331136-Alternative-A;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Reference T aactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctct ACCTATAACGAC CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAacctataacgacAGATCGAGACCCGACGC chr7:95331136-Reference-T;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Reference T aactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctct GGTGCGACGTTA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAggtgcgacgttaAGATCGAGACCCGACGC chr7:95331136-Reference-T;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative A aactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctct GGAACGCATAAG CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAggaacgcataagAGATCGAGACCCGACGC chr7:95331136-Alternative-A;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Variant C aactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctct ACGACATGCTAA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAacgacatgctaaAGATCGAGACCCGACGC chr7:95331136-Variant-C;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Alternative A aactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctct CGGTCATCGTGT CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgAtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAcggtcatcgtgtAGATCGAGACCCGACGC chr7:95331136-Alternative-A;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Reference T aactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctct GGACGCTATATA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgTtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAggacgctatataAGATCGAGACCCGACGC chr7:95331136-Reference-T;Patient-55 chr7:95331136-TC Inherited Patient-55 intergenic NA 0.000512821 0.18 5.5 0.15 DYNC1I1 70681 Variant C aactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctct GAGTAGGTCCGA CGACGCGGTCTCTCTCTaactggaatacttatttttttgctattgaattgtttgagtttcttatacgCtctggacattagccctttgtcagttgcatagtttgctgatattttctctAGAGGGAGACGGACGTCTCAATAAgagtaggtccgaAGATCGAGACCCGACGC chr7:95331136-Variant-C;Patient-55 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative A acttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CATCTTCCTGTT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcatcttcctgttAGATCGAGACCCGACGC chr7:96679657-Alternative-A;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Reference T acttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa AGACGTTACGTT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAagacgttacgttAGATCGAGACCCGACGC chr7:96679657-Reference-T;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Reference T acttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa ATCGCGAACCGT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAatcgcgaaccgtAGATCGAGACCCGACGC chr7:96679657-Reference-T;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Reference T acttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GAAGTGATAGCG CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAgaagtgatagcgAGATCGAGACCCGACGC chr7:96679657-Reference-T;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Variant C acttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CTTACCTCAAGT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAActtacctcaagtAGATCGAGACCCGACGC chr7:96679657-Variant-C;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Reference T acttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GAGAGTTGACCG CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAgagagttgaccgAGATCGAGACCCGACGC chr7:96679657-Reference-T;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative A acttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CGTTCAACGATA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcgttcaacgataAGATCGAGACCCGACGC chr7:96679657-Alternative-A;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative A acttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa ACACGCCGGATA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAacacgccggataAGATCGAGACCCGACGC chr7:96679657-Alternative-A;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Variant C acttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GTATTCTCGAAG CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAgtattctcgaagAGATCGAGACCCGACGC chr7:96679657-Variant-C;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Variant C acttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CAGCATCCGTGA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcagcatccgtgaAGATCGAGACCCGACGC chr7:96679657-Variant-C;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative A acttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CAAGGTCGCAAG CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcaaggtcgcaagAGATCGAGACCCGACGC chr7:96679657-Alternative-A;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative A acttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa ACTTACGGAGAA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataAgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAacttacggagaaAGATCGAGACCCGACGC chr7:96679657-Alternative-A;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Variant C acttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GGTGCGAACGAA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAggtgcgaacgaaAGATCGAGACCCGACGC chr7:96679657-Variant-C;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Variant C acttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GAATATGGCCGC CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataCgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAgaatatggccgcAGATCGAGACCCGACGC chr7:96679657-Variant-C;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Reference T acttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa ATCCTACTACGC CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataTgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAatcctactacgcAGATCGAGACCCGACGC chr7:96679657-Reference-T;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative G acttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa AGATTCGAGCGA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAagattcgagcgaAGATCGAGACCCGACGC chr7:96679657-Alternative-G;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative G acttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa GGCGTCGACTTA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAggcgtcgacttaAGATCGAGACCCGACGC chr7:96679657-Alternative-G;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative G acttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CACATTGGCGAT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcacattggcgatAGATCGAGACCCGACGC chr7:96679657-Alternative-G;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative G acttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa CAGACTCGATCA CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAcagactcgatcaAGATCGAGACCCGACGC chr7:96679657-Alternative-G;Patient-62 chr7:96679657-TC DeNovo Patient-62 intergenic 0.000223 0.000513 0.76 11.53 1.35 DLX5 25513 Alternative G acttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaa AAGGTTGTGCTT CGACGCGGTCTCTCTCTacttaacaaactccctaaagtattactaacatgattcttaatggaaaataGgtaaatgtctctgtggataagcattgtaacttaaaaatatagacttcaaAGAGGGAGACGGACGTCTCAATAAaaggttgtgcttAGATCGAGACCCGACGC chr7:96679657-Alternative-G;Patient-62 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Reference G tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CACGAGGACCAT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAcacgaggaccatAGATCGAGACCCGACGC chr7:96714434-Reference-G;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Reference G tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga ACGATTCTACAC CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAacgattctacacAGATCGAGACCCGACGC chr7:96714434-Reference-G;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative T tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga GTTACGTCGTGC CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAgttacgtcgtgcAGATCGAGACCCGACGC chr7:96714434-Alternative-T;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Variant A tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTCTCTTGCATT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActctcttgcattAGATCGAGACCCGACGC chr7:96714434-Variant-A;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative T tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga ATCTTAAGGTCG CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAatcttaaggtcgAGATCGAGACCCGACGC chr7:96714434-Alternative-T;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Variant A tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTATCATGTCAC CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActatcatgtcacAGATCGAGACCCGACGC chr7:96714434-Variant-A;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Variant A tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga GATACGTCAGTT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAgatacgtcagttAGATCGAGACCCGACGC chr7:96714434-Variant-A;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Variant A tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CAAGATCGTCGA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAcaagatcgtcgaAGATCGAGACCCGACGC chr7:96714434-Variant-A;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative T tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga ATTGCTTAGCGT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAattgcttagcgtAGATCGAGACCCGACGC chr7:96714434-Alternative-T;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative T tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga GGTCGTGATCGT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAggtcgtgatcgtAGATCGAGACCCGACGC chr7:96714434-Alternative-T;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative C tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTCGTTCTCGCT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActcgttctcgctAGATCGAGACCCGACGC chr7:96714434-Alternative-C;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Variant A tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga ACGCACTTCGAA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcAaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAacgcacttcgaaAGATCGAGACCCGACGC chr7:96714434-Variant-A;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Reference G tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CATATATCCGGT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAcatatatccggtAGATCGAGACCCGACGC chr7:96714434-Reference-G;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative C tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTTACGGTTGCG CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActtacggttgcgAGATCGAGACCCGACGC chr7:96714434-Alternative-C;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Reference G tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga AAGGTTGGTACA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAaaggttggtacaAGATCGAGACCCGACGC chr7:96714434-Reference-G;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative T tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga GATAACGAGCGA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcTaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAgataacgagcgaAGATCGAGACCCGACGC chr7:96714434-Alternative-T;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative C tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTCTTGGTGTGC CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActcttggtgtgcAGATCGAGACCCGACGC chr7:96714434-Alternative-C;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative C tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CTTACGCTACTA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAActtacgctactaAGATCGAGACCCGACGC chr7:96714434-Alternative-C;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Reference G tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga CGCCATCGGATA CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcGaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAcgccatcggataAGATCGAGACCCGACGC chr7:96714434-Reference-G;Patient-90 chr7:96714434-GA DeNovo Patient-90 intergenic 9.6e-05 0.00154 -0.34 0.29 -0.47 DLX5 60290 Alternative C tcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagaga AGTAATCACGCT CGACGCGGTCTCTCTCTtcacacatggctggggaggcctaaggaaacttacaatcatggtggaaggcCaaggagaagccaggcacatcttaccatggtgaagtaggagagaaagagaAGAGGGAGACGGACGTCTCAATAAagtaatcacgctAGATCGAGACCCGACGC chr7:96714434-Alternative-C;Patient-90 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative T aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt GATTGAACATCG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAgattgaacatcgAGATCGAGACCCGACGC chr7:97473503-Alternative-T;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative T aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt CAATAGCCGGAC CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAcaatagccggacAGATCGAGACCCGACGC chr7:97473503-Alternative-T;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Reference G aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ACTCATTGGACG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAactcattggacgAGATCGAGACCCGACGC chr7:97473503-Reference-G;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Reference G aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt GGACCTACCAGA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAggacctaccagaAGATCGAGACCCGACGC chr7:97473503-Reference-G;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Variant A aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ACCTACCTATGG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAacctacctatggAGATCGAGACCCGACGC chr7:97473503-Variant-A;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Variant A aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt GGATCTCAGTAT CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAggatctcagtatAGATCGAGACCCGACGC chr7:97473503-Variant-A;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative C aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ATCTCGTCAGAA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAatctcgtcagaaAGATCGAGACCCGACGC chr7:97473503-Alternative-C;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative T aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt GCATTCAGCGAC CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAgcattcagcgacAGATCGAGACCCGACGC chr7:97473503-Alternative-T;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative C aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt CAACAGGATCTT CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAcaacaggatcttAGATCGAGACCCGACGC chr7:97473503-Alternative-C;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Variant A aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ATCTGCCGTCGA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAatctgccgtcgaAGATCGAGACCCGACGC chr7:97473503-Variant-A;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Reference G aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt AAGGTGAACCTA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAaaggtgaacctaAGATCGAGACCCGACGC chr7:97473503-Reference-G;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative C aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt CGTTGACGGTGT CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAcgttgacggtgtAGATCGAGACCCGACGC chr7:97473503-Alternative-C;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Reference G aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt AAGATCGTCCTA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAaagatcgtcctaAGATCGAGACCCGACGC chr7:97473503-Reference-G;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative T aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt AGGACTCGTCCA CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAaggactcgtccaAGATCGAGACCCGACGC chr7:97473503-Alternative-T;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Variant A aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ACTCGCTCTGAC CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAactcgctctgacAGATCGAGACCCGACGC chr7:97473503-Variant-A;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Reference G aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt CTCATACTCCGG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccGtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAActcatactccggAGATCGAGACCCGACGC chr7:97473503-Reference-G;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative T aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt ACCTGAAGACCG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccTtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAacctgaagaccgAGATCGAGACCCGACGC chr7:97473503-Alternative-T;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative C aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt GCAGTATGAACC CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAgcagtatgaaccAGATCGAGACCCGACGC chr7:97473503-Alternative-C;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Alternative C aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt AACGTTGCTGCG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccCtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAaacgttgctgcgAGATCGAGACCCGACGC chr7:97473503-Alternative-C;Patient-92 chr7:97473503-GA Inherited Patient-92 intergenic 0.000637 0.00256 -0.33 0.29 -3.15 ASNS 28350 Variant A aattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcatt AAGACGAGGTGG CGACGCGGTCTCTCTCTaattaacagatgcacaagattcagatgttaaaaccaatagaaaaattcccAtttgttgaacagtcagttgaggatcatcctaccccaccgtgtggtcattAGAGGGAGACGGACGTCTCAATAAaagacgaggtggAGATCGAGACCCGACGC chr7:97473503-Variant-A;Patient-92 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Variant T gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc GAGAGCCTTATT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAgagagccttattAGATCGAGACCCGACGC chr7:97657532-Variant-T;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative A gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc GACGCATTATCA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAgacgcattatcaAGATCGAGACCCGACGC chr7:97657532-Alternative-A;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Reference C gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc AACAAGCGGCGT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAaacaagcggcgtAGATCGAGACCCGACGC chr7:97657532-Reference-C;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative G gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc AGATGACTATCG CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAagatgactatcgAGATCGAGACCCGACGC chr7:97657532-Alternative-G;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Reference C gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc CACGGTTCCATT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAcacggttccattAGATCGAGACCCGACGC chr7:97657532-Reference-C;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Reference C gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc AACGCTTCTTGA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAaacgcttcttgaAGATCGAGACCCGACGC chr7:97657532-Reference-C;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative A gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc AGAGTTACACCT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAagagttacacctAGATCGAGACCCGACGC chr7:97657532-Alternative-A;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative A gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc GTACACTGTCTT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAgtacactgtcttAGATCGAGACCCGACGC chr7:97657532-Alternative-A;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative G gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc ATAGGCTGTGTT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAataggctgtgttAGATCGAGACCCGACGC chr7:97657532-Alternative-G;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Reference C gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc AGGTGAATACCA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAaggtgaataccaAGATCGAGACCCGACGC chr7:97657532-Reference-C;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative G gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc CATTGACGTCAA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAcattgacgtcaaAGATCGAGACCCGACGC chr7:97657532-Alternative-G;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Variant T gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc GCGAGATGAATC CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAgcgagatgaatcAGATCGAGACCCGACGC chr7:97657532-Variant-T;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative A gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc GGATATCGCACA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAggatatcgcacaAGATCGAGACCCGACGC chr7:97657532-Alternative-A;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative G gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc ACTAAGCTGGAA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAactaagctggaaAGATCGAGACCCGACGC chr7:97657532-Alternative-G;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Variant T gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc CTCTGGCATTCG CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAActctggcattcgAGATCGAGACCCGACGC chr7:97657532-Variant-T;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Reference C gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc ACCTGATGTAAC CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcCgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAacctgatgtaacAGATCGAGACCCGACGC chr7:97657532-Reference-C;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Variant T gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc ATACCGCGTAGT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAataccgcgtagtAGATCGAGACCCGACGC chr7:97657532-Variant-T;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Variant T gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc CTAACGGCATAT CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcTgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAActaacggcatatAGATCGAGACCCGACGC chr7:97657532-Variant-T;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative A gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc CGAGAGTCAATC CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcAgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAcgagagtcaatcAGATCGAGACCCGACGC chr7:97657532-Alternative-A;Patient-82 chr7:97657532-CT DeNovo Patient-82 intergenic 8.2e-05 0.0123 -0.5 0.09 -0.3 LMTK2 78664 Alternative G gctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtc ACAGCTGTGCGA CGACGCGGTCTCTCTCTgctgaggcaggagaatggtgtgaacccgggaggcagagcttgcggtgagcGgagatcgcaccactgcactccagcctgggtgacagagcaagactccgtcAGAGGGAGACGGACGTCTCAATAAacagctgtgcgaAGATCGAGACCCGACGC chr7:97657532-Alternative-G;Patient-82 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative C gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CGAGCTGTTGCA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgagctgttgcaAGATCGAGACCCGACGC chr7:97672583-Alternative-C;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative C gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CGAGCCTTCCAA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgagccttccaaAGATCGAGACCCGACGC chr7:97672583-Alternative-C;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative C gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CTTAGGATCTTC CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAActtaggatcttcAGATCGAGACCCGACGC chr7:97672583-Alternative-C;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative C gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CATGCGACTTAA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcatgcgacttaaAGATCGAGACCCGACGC chr7:97672583-Alternative-C;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative C gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GTTCGATGCCGT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggCttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAgttcgatgccgtAGATCGAGACCCGACGC chr7:97672583-Alternative-C;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative A gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GTGTTCCTAGAA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAgtgttcctagaaAGATCGAGACCCGACGC chr7:97672583-Alternative-A;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative A gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GGTTGATGATGA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAggttgatgatgaAGATCGAGACCCGACGC chr7:97672583-Alternative-A;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative A gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc ATCCTACGCGCA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAatcctacgcgcaAGATCGAGACCCGACGC chr7:97672583-Alternative-A;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Reference G gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc AAGGCCGGACTA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAaaggccggactaAGATCGAGACCCGACGC chr7:97672583-Reference-G;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Variant T gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc AGTTCCGAACGC CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAagttccgaacgcAGATCGAGACCCGACGC chr7:97672583-Variant-T;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Reference G gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GCAGTAGATCCA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAgcagtagatccaAGATCGAGACCCGACGC chr7:97672583-Reference-G;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative A gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CACGGCGATCAT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcacggcgatcatAGATCGAGACCCGACGC chr7:97672583-Alternative-A;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Alternative A gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc AGCGCTATGTGC CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggAttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAagcgctatgtgcAGATCGAGACCCGACGC chr7:97672583-Alternative-A;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Variant T gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GTTCACGCGTAC CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAgttcacgcgtacAGATCGAGACCCGACGC chr7:97672583-Variant-T;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Reference G gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc AGGTATCATGCT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAaggtatcatgctAGATCGAGACCCGACGC chr7:97672583-Reference-G;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Variant T gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc ATTACTCGGCTT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAattactcggcttAGATCGAGACCCGACGC chr7:97672583-Variant-T;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Variant T gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CGTAATGACGAA CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgtaatgacgaaAGATCGAGACCCGACGC chr7:97672583-Variant-T;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Reference G gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CGCATAGACGCT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcgcatagacgctAGATCGAGACCCGACGC chr7:97672583-Reference-G;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Variant T gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc GGTTAACGCAAT CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggTttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAggttaacgcaatAGATCGAGACCCGACGC chr7:97672583-Variant-T;Patient-72 chr7:97672583-GT DeNovo Patient-72 intergenic 0.00051 0.00154 -0.1 1.44 0.46 LMTK2 63613 Reference G gctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggc CAAGCCACGTTC CGACGCGGTCTCTCTCTgctggagtgcagtggcatgatctcggctcactgcaacctccacctcccggGttcaagcgattctgctgcctcagcctcccaagtggttgggattacaggcAGAGGGAGACGGACGTCTCAATAAcaagccacgttcAGATCGAGACCCGACGC chr7:97672583-Reference-G;Patient-72 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative T aacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca AGAACGTTGAGT CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAagaacgttgagtAGATCGAGACCCGACGC chr7:97778731-Alternative-T;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Reference A aacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CGGAAGTGTTCG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcggaagtgttcgAGATCGAGACCCGACGC chr7:97778731-Reference-A;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative C aacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CGGAGTGGCTTA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcggagtggcttaAGATCGAGACCCGACGC chr7:97778731-Alternative-C;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Reference A aacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CGATAATTCGGT CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcgataattcggtAGATCGAGACCCGACGC chr7:97778731-Reference-A;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative T aacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CGGCTAACATAT CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcggctaacatatAGATCGAGACCCGACGC chr7:97778731-Alternative-T;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Variant G aacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca GCGGTGTATCCA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAgcggtgtatccaAGATCGAGACCCGACGC chr7:97778731-Variant-G;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative C aacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca GGCAATACGCTA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAggcaatacgctaAGATCGAGACCCGACGC chr7:97778731-Alternative-C;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative C aacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ACGACTCGGAGA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAacgactcggagaAGATCGAGACCCGACGC chr7:97778731-Alternative-C;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Variant G aacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ACACCTAACAGG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAacacctaacaggAGATCGAGACCCGACGC chr7:97778731-Variant-G;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Variant G aacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ATCTTAGCCATC CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAatcttagccatcAGATCGAGACCCGACGC chr7:97778731-Variant-G;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Reference A aacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca GTCGACGATCTA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAgtcgacgatctaAGATCGAGACCCGACGC chr7:97778731-Reference-A;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative C aacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca GGATGTTGGATA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAggatgttggataAGATCGAGACCCGACGC chr7:97778731-Alternative-C;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative T aacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca AATCGACTGCGG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAaatcgactgcggAGATCGAGACCCGACGC chr7:97778731-Alternative-T;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Variant G aacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CGAAGGTGATTA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcgaaggtgattaAGATCGAGACCCGACGC chr7:97778731-Variant-G;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Variant G aacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ACGATAACAACG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaGaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAacgataacaacgAGATCGAGACCCGACGC chr7:97778731-Variant-G;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative T aacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ACTATCTAACCG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAactatctaaccgAGATCGAGACCCGACGC chr7:97778731-Alternative-T;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative T aacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ACCGACGTGAGA CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaTaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAaccgacgtgagaAGATCGAGACCCGACGC chr7:97778731-Alternative-T;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Reference A aacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ATTGGTTGATGC CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAattggttgatgcAGATCGAGACCCGACGC chr7:97778731-Reference-A;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Reference A aacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca ATCCGAGCTAGG CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaAaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAatccgagctaggAGATCGAGACCCGACGC chr7:97778731-Reference-A;Patient-58 chr7:97778731-AG Inherited Patient-58 intronic LMTK2 NA 0.000148 -0.25 0.52 -0.73 LMTK2 42533 Alternative C aacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagaca CAGCGTGTAGCT CGACGCGGTCTCTCTCTaacctttgaccatcttctagagtttttataaggttgacactggcagtttaCaaaaaagtcttttagtgtttcttggaagggacggctgccagaggagacaAGAGGGAGACGGACGTCTCAATAAcagcgtgtagctAGATCGAGACCCGACGC chr7:97778731-Alternative-C;Patient-58 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Variant A gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct ACGTAGATTCAC CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAacgtagattcacAGATCGAGACCCGACGC chr7:98441342-Variant-A;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative C gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GATTACCTATGG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAgattacctatggAGATCGAGACCCGACGC chr7:98441342-Alternative-C;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative C gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GTATCTCGCGAG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAgtatctcgcgagAGATCGAGACCCGACGC chr7:98441342-Alternative-C;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative C gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct AGTTCCGTAACA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAagttccgtaacaAGATCGAGACCCGACGC chr7:98441342-Alternative-C;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative C gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GGTCAAGCGGTT CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAggtcaagcggttAGATCGAGACCCGACGC chr7:98441342-Alternative-C;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative C gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct CGTTGACGGCTA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacCccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAcgttgacggctaAGATCGAGACCCGACGC chr7:98441342-Alternative-C;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative T gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GACTATGATGAG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAgactatgatgagAGATCGAGACCCGACGC chr7:98441342-Alternative-T;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative T gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct AGGAGTCGGCAT CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAaggagtcggcatAGATCGAGACCCGACGC chr7:98441342-Alternative-T;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Variant A gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct CGTCAACGGAGA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAcgtcaacggagaAGATCGAGACCCGACGC chr7:98441342-Variant-A;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative T gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct CGTATGTCTAAG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAcgtatgtctaagAGATCGAGACCCGACGC chr7:98441342-Alternative-T;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Reference G gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct ATTCATGTCTGG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAattcatgtctggAGATCGAGACCCGACGC chr7:98441342-Reference-G;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Variant A gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct AGGTAGCTAAGA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAaggtagctaagaAGATCGAGACCCGACGC chr7:98441342-Variant-A;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative T gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GGTATCACGTCG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAggtatcacgtcgAGATCGAGACCCGACGC chr7:98441342-Alternative-T;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Alternative T gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct ACGTGGACTTCG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacTccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAacgtggacttcgAGATCGAGACCCGACGC chr7:98441342-Alternative-T;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Reference G gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GTCGTGGAACGA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAgtcgtggaacgaAGATCGAGACCCGACGC chr7:98441342-Reference-G;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Reference G gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct GGTGTCTAACTA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAggtgtctaactaAGATCGAGACCCGACGC chr7:98441342-Reference-G;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Variant A gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct ACCTTACGGATA CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAaccttacggataAGATCGAGACCCGACGC chr7:98441342-Variant-A;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Variant A gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct CATTCGTTAGCT CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacAccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAcattcgttagctAGATCGAGACCCGACGC chr7:98441342-Variant-A;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Reference G gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct AGCGGTTAAGAT CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAagcggttaagatAGATCGAGACCCGACGC chr7:98441342-Reference-G;Patient-37 chr7:98441342-GA Inherited Patient-37 intergenic 0.000732 0.00205 -0.32 0.31 -0.85 TRRAP 34770 Reference G gtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgct CAAGAGTATCGG CGACGCGGTCTCTCTCTgtgaggttacaacacaagtgtgaggaagtaaccctttctcccttcctcacGccatccctctttcctttcaacaatatttaatgaacacctgctatgtgctAGAGGGAGACGGACGTCTCAATAAcaagagtatcggAGATCGAGACCCGACGC chr7:98441342-Reference-G;Patient-37 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative T cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggt GGTATGAGCGAC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAggtatgagcgacAGATCGAGACCCGACGC chr7:98690618-Alternative-T;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Variant A cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggt CATCTATCGACC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAcatctatcgaccAGATCGAGACCCGACGC chr7:98690618-Variant-A;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Variant A cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggt GCGTACTATAAC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAgcgtactataacAGATCGAGACCCGACGC chr7:98690618-Variant-A;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Variant A cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggt GCCTGAGAATAA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAgcctgagaataaAGATCGAGACCCGACGC chr7:98690618-Variant-A;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative C cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggt GTAGGATTCTAC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAgtaggattctacAGATCGAGACCCGACGC chr7:98690618-Alternative-C;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative T cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggt CTGGTGGTAGTC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAActggtggtagtcAGATCGAGACCCGACGC chr7:98690618-Alternative-T;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative C cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggt CTAGCCGTCTTC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAActagccgtcttcAGATCGAGACCCGACGC chr7:98690618-Alternative-C;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Variant A cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggt AAGATGCTCCAT CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAaagatgctccatAGATCGAGACCCGACGC chr7:98690618-Variant-A;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Variant A cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggt GGTTGTACTAGA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaActggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAggttgtactagaAGATCGAGACCCGACGC chr7:98690618-Variant-A;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative T cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggt AATACCGCCACA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAaataccgccacaAGATCGAGACCCGACGC chr7:98690618-Alternative-T;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative C cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggt CTTGCGACTAAC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAActtgcgactaacAGATCGAGACCCGACGC chr7:98690618-Alternative-C;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative C cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggt GCGGTTGTCCAT CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAgcggttgtccatAGATCGAGACCCGACGC chr7:98690618-Alternative-C;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative C cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggt CTCAAGTAGGTT CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaCctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAActcaagtaggttAGATCGAGACCCGACGC chr7:98690618-Alternative-C;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative T cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggt GGTACAAGGTCG CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAggtacaaggtcgAGATCGAGACCCGACGC chr7:98690618-Alternative-T;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Alternative T cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggt ATTCGTCGTACA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaTctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAattcgtcgtacaAGATCGAGACCCGACGC chr7:98690618-Alternative-T;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Reference G cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggt GTCAAGCTAGAA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAgtcaagctagaaAGATCGAGACCCGACGC chr7:98690618-Reference-G;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Reference G cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggt ACGCTGCATCAG CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAacgctgcatcagAGATCGAGACCCGACGC chr7:98690618-Reference-G;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Reference G cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggt ACAGACGCGTTA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAacagacgcgttaAGATCGAGACCCGACGC chr7:98690618-Reference-G;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Reference G cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggt AGGCCGGCTATA CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAaggccggctataAGATCGAGACCCGACGC chr7:98690618-Reference-G;Patient-61 chr7:98690618-GA Inherited Patient-61 intronic SMURF1 3.2e-05 4.95e-05 -0.12 1.21 -2.82 SMURF1 51124 Reference G cctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggt GGTGTTGCATGC CGACGCGGTCTCTCTCTcctactgagaataatgggaatcaacagtatagttctcttccgctgtcagaGctggtactcgccacaccccaggaactatacacagactaacaccagtggtAGAGGGAGACGGACGTCTCAATAAggtgttgcatgcAGATCGAGACCCGACGC chr7:98690618-Reference-G;Patient-61 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative A tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga ACTCTAGCCTGG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAactctagcctggAGATCGAGACCCGACGC chr8:101965514-Alternative-A;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Reference G tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga CTGTTATCGACT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAActgttatcgactAGATCGAGACCCGACGC chr8:101965514-Reference-G;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Reference G tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GCGTAACCGTCT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgcgtaaccgtctAGATCGAGACCCGACGC chr8:101965514-Reference-G;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Reference G tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GCGGAGTATACG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgcggagtatacgAGATCGAGACCCGACGC chr8:101965514-Reference-G;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Reference G tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GGTCAAGTACGG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAggtcaagtacggAGATCGAGACCCGACGC chr8:101965514-Reference-G;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Reference G tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga CAAGCGAACATT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaGcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAcaagcgaacattAGATCGAGACCCGACGC chr8:101965514-Reference-G;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Variant T tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga AACAAGATGGAG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAaacaagatggagAGATCGAGACCCGACGC chr8:101965514-Variant-T;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative A tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga ATCTCCGTCGCA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAatctccgtcgcaAGATCGAGACCCGACGC chr8:101965514-Alternative-A;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Variant T tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga AACCGACCAACC CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAaaccgaccaaccAGATCGAGACCCGACGC chr8:101965514-Variant-T;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Variant T tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GACTAACTGCGC CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgactaactgcgcAGATCGAGACCCGACGC chr8:101965514-Variant-T;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative A tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GTCTCGTCACCA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgtctcgtcaccaAGATCGAGACCCGACGC chr8:101965514-Alternative-A;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative A tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga CGAGATCGACGA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAcgagatcgacgaAGATCGAGACCCGACGC chr8:101965514-Alternative-A;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Variant T tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga ACAAGTAGCCGT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAacaagtagccgtAGATCGAGACCCGACGC chr8:101965514-Variant-T;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Variant T tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga CTACCGTCGACT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaTcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAActaccgtcgactAGATCGAGACCCGACGC chr8:101965514-Variant-T;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative A tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga AGCTAAGATACG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaAcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAagctaagatacgAGATCGAGACCCGACGC chr8:101965514-Alternative-A;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative C tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga AACTCAACGCAG CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAaactcaacgcagAGATCGAGACCCGACGC chr8:101965514-Alternative-C;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative C tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GATCGGCATCCA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgatcggcatccaAGATCGAGACCCGACGC chr8:101965514-Alternative-C;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative C tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GAATCACGAGCA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAgaatcacgagcaAGATCGAGACCCGACGC chr8:101965514-Alternative-C;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative C tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga GGTCATCACTAA CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAggtcatcactaaAGATCGAGACCCGACGC chr8:101965514-Alternative-C;Patient-36 chr8:101965514-GT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.57 10.06 1.52 YWHAZ 108 Alternative C tgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtggga AGTGGCTACAAT CGACGCGGTCTCTCTCTtgaagacctcatactgcacatgacgatcattacctttttatctcctagaaCcaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggaAGAGGGAGACGGACGTCTCAATAAagtggctacaatAGATCGAGACCCGACGC chr8:101965514-Alternative-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative G gaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag AACGGCAATCGA CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAaacggcaatcgaAGATCGAGACCCGACGC chr8:101965515-Alternative-G;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Variant T gaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag ATCTCACGTGTT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAatctcacgtgttAGATCGAGACCCGACGC chr8:101965515-Variant-T;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Variant T gaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag ATACGAGAGCAT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAatacgagagcatAGATCGAGACCCGACGC chr8:101965515-Variant-T;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative G gaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CAATTAGGCGCG CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcaattaggcgcgAGATCGAGACCCGACGC chr8:101965515-Alternative-G;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative G gaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CTTAGCCGACCT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAActtagccgacctAGATCGAGACCCGACGC chr8:101965515-Alternative-G;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative G gaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CATAAGCGGCCA CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcataagcggccaAGATCGAGACCCGACGC chr8:101965515-Alternative-G;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Variant T gaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CACGAGATAGGT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcacgagataggtAGATCGAGACCCGACGC chr8:101965515-Variant-T;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative G gaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag AGTGTTCATGCA CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagGaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAagtgttcatgcaAGATCGAGACCCGACGC chr8:101965515-Alternative-G;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative A gaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GGACGTGTGTTC CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAggacgtgtgttcAGATCGAGACCCGACGC chr8:101965515-Alternative-A;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative A gaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GCGGATAGTGGT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAgcggatagtggtAGATCGAGACCCGACGC chr8:101965515-Alternative-A;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Variant T gaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag AGCTTCGTGTGG CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAagcttcgtgtggAGATCGAGACCCGACGC chr8:101965515-Variant-T;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Variant T gaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag AATGATCCGAAC CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagTaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAaatgatccgaacAGATCGAGACCCGACGC chr8:101965515-Variant-T;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative A gaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CATCTACGACTT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcatctacgacttAGATCGAGACCCGACGC chr8:101965515-Alternative-A;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Reference C gaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag AGACCGTCATAC CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAagaccgtcatacAGATCGAGACCCGACGC chr8:101965515-Reference-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative A gaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GTAGAGCAATGT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAgtagagcaatgtAGATCGAGACCCGACGC chr8:101965515-Alternative-A;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Reference C gaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GTTAGCGTGTTA CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAgttagcgtgttaAGATCGAGACCCGACGC chr8:101965515-Reference-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Reference C gaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GTGCTTACGGAC CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAgtgcttacggacAGATCGAGACCCGACGC chr8:101965515-Reference-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Reference C gaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag GATCGCTAGATA CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAgatcgctagataAGATCGAGACCCGACGC chr8:101965515-Reference-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Reference C gaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CAGGACCATAAG CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagCaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcaggaccataagAGATCGAGACCCGACGC chr8:101965515-Reference-C;Patient-36 chr8:101965515-CT DeNovo Patient-36 5 prime UTR YWHAZ NA 0.000148 0.98 13.13 4.52 YWHAZ 107 Alternative A gaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggag CGGTGTCTGGTT CGACGCGGTCTCTCTCTgaagacctcatactgcacatgacgatcattacctttttatctcctagaagAaaggtttgagggacgtcgtagtccccagggttccagctggcggtgggagAGAGGGAGACGGACGTCTCAATAAcggtgtctggttAGATCGAGACCCGACGC chr8:101965515-Alternative-A;Patient-36 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Reference C ttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GTTAATGCTCGA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgttaatgctcgaAGATCGAGACCCGACGC chr8:102554134-Reference-C;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Reference C ttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CACTTCGGCATC CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAcacttcggcatcAGATCGAGACCCGACGC chr8:102554134-Reference-C;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative A ttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CTCATGCAACGG CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAActcatgcaacggAGATCGAGACCCGACGC chr8:102554134-Alternative-A;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Reference C ttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CGAGATTAAGTC CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAcgagattaagtcAGATCGAGACCCGACGC chr8:102554134-Reference-C;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative A ttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GACCGGTATTGA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgaccggtattgaAGATCGAGACCCGACGC chr8:102554134-Alternative-A;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative G ttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GAGTAACGTAGT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgagtaacgtagtAGATCGAGACCCGACGC chr8:102554134-Alternative-G;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Variant T ttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ACGACGTTAACG CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAacgacgttaacgAGATCGAGACCCGACGC chr8:102554134-Variant-T;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Reference C ttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GATAACAAGCGT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgataacaagcgtAGATCGAGACCCGACGC chr8:102554134-Reference-C;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative A ttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ACGATTACGCCA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAacgattacgccaAGATCGAGACCCGACGC chr8:102554134-Alternative-A;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Variant T ttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CGGAATGCCACA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAcggaatgccacaAGATCGAGACCCGACGC chr8:102554134-Variant-T;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Reference C ttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CTGCATCAATGA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcCccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAActgcatcaatgaAGATCGAGACCCGACGC chr8:102554134-Reference-C;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative A ttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ACGTCGTTCCGT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAacgtcgttccgtAGATCGAGACCCGACGC chr8:102554134-Alternative-A;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative G ttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GACGCGGTTAAG CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgacgcggttaagAGATCGAGACCCGACGC chr8:102554134-Alternative-G;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Variant T ttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GCGAACCGTAAC CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgcgaaccgtaacAGATCGAGACCCGACGC chr8:102554134-Variant-T;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative A ttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GAAGATAGCGAA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcAccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgaagatagcgaaAGATCGAGACCCGACGC chr8:102554134-Alternative-A;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative G ttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagttt GACTAAGGTACA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAgactaaggtacaAGATCGAGACCCGACGC chr8:102554134-Alternative-G;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Variant T ttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ATTCGGAGTGTT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAattcggagtgttAGATCGAGACCCGACGC chr8:102554134-Variant-T;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative G ttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ACGTAGTGCCGT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAacgtagtgccgtAGATCGAGACCCGACGC chr8:102554134-Alternative-G;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Alternative G ttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagttt CAGTACGTACTA CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcGccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAcagtacgtactaAGATCGAGACCCGACGC chr8:102554134-Alternative-G;Patient-2 chr8:102554134-CT DeNovo Patient-2 intronic GRHL2 NA 4.95e-05 0.2 5.91 0.92 GRHL2 49465 Variant T ttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagttt ACTCGGATTAGT CGACGCGGTCTCTCTCTttggttaggattgattgactcccacccatttctgtttctactgtaaattcTccgtatagactccctcactttccatgatggtctttgtagcttgtagtttAGAGGGAGACGGACGTCTCAATAAactcggattagtAGATCGAGACCCGACGC chr8:102554134-Variant-T;Patient-2 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Variant A atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GGCTGAAGCGAA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAggctgaagcgaaAGATCGAGACCCGACGC chr8:103055850-Variant-A;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Variant A atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GGTTAACCGAGT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAggttaaccgagtAGATCGAGACCCGACGC chr8:103055850-Variant-A;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Variant A atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga ACTTCAGTGTGA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAacttcagtgtgaAGATCGAGACCCGACGC chr8:103055850-Variant-A;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Reference G atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga ACGTACCTTGAA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAacgtaccttgaaAGATCGAGACCCGACGC chr8:103055850-Reference-G;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Variant A atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GATTGAACAAGG CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAgattgaacaaggAGATCGAGACCCGACGC chr8:103055850-Variant-A;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative C atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga AACCGTCGCCTT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAaaccgtcgccttAGATCGAGACCCGACGC chr8:103055850-Alternative-C;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Reference G atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga ACCGTTGCGCTT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAaccgttgcgcttAGATCGAGACCCGACGC chr8:103055850-Reference-G;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Reference G atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga AGCACGTACCGT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAagcacgtaccgtAGATCGAGACCCGACGC chr8:103055850-Reference-G;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Reference G atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga AGTACGTTGTGT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAagtacgttgtgtAGATCGAGACCCGACGC chr8:103055850-Reference-G;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative T atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga AGGTTCGGACGA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAaggttcggacgaAGATCGAGACCCGACGC chr8:103055850-Alternative-T;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative T atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GATTCAAGAGGT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAgattcaagaggtAGATCGAGACCCGACGC chr8:103055850-Alternative-T;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative C atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga CAGCTAGACGAA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAcagctagacgaaAGATCGAGACCCGACGC chr8:103055850-Alternative-C;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Reference G atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga CGGAGATGCAAT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctGttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAcggagatgcaatAGATCGAGACCCGACGC chr8:103055850-Reference-G;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative T atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga CATGTTCAGCGG CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAcatgttcagcggAGATCGAGACCCGACGC chr8:103055850-Alternative-T;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative T atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GTCGTGTGAAGG CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAgtcgtgtgaaggAGATCGAGACCCGACGC chr8:103055850-Alternative-T;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative C atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GAGCATGCTTAT CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAgagcatgcttatAGATCGAGACCCGACGC chr8:103055850-Alternative-C;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative C atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga CGGATGTAGTCG CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAcggatgtagtcgAGATCGAGACCCGACGC chr8:103055850-Alternative-C;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative T atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga ACTAACAAGACG CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctTttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAactaacaagacgAGATCGAGACCCGACGC chr8:103055850-Alternative-T;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Variant A atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga GCCGCCTAACTA CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctAttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAgccgcctaactaAGATCGAGACCCGACGC chr8:103055850-Variant-A;Patient-76 chr8:103055850-GA Inherited Patient-76 intronic NCALD 8e-04 0.000479 0.24 6.43 0.71 NCALD 81284 Alternative C atgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagaga ATACGCTCCTAC CGACGCGGTCTCTCTCTatgggacttgaagtataaaaggtaaaatgttaggcggttagttaggagctCttcatctccattacagacaggaaatgaaaagaagaggaagaagaagagaAGAGGGAGACGGACGTCTCAATAAatacgctcctacAGATCGAGACCCGACGC chr8:103055850-Alternative-C;Patient-76 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative C tgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GGACCTACAATT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAggacctacaattAGATCGAGACCCGACGC chr8:103213151-Alternative-C;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Variant A tgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AGGTAGGATGTT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAaggtaggatgttAGATCGAGACCCGACGC chr8:103213151-Variant-A;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Variant A tgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GGCACGATACCA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAggcacgataccaAGATCGAGACCCGACGC chr8:103213151-Variant-A;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Variant A tgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GAGCACGTACGT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgagcacgtacgtAGATCGAGACCCGACGC chr8:103213151-Variant-A;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative C tgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AAGTTGGCATGT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAaagttggcatgtAGATCGAGACCCGACGC chr8:103213151-Alternative-C;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative C tgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct CAGACGCTTACG CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAcagacgcttacgAGATCGAGACCCGACGC chr8:103213151-Alternative-C;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Variant A tgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct CGCAAGATATCG CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAcgcaagatatcgAGATCGAGACCCGACGC chr8:103213151-Variant-A;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Variant A tgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AAGCAAGAGCAA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgAcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAaagcaagagcaaAGATCGAGACCCGACGC chr8:103213151-Variant-A;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative T tgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct ATCCTGACTACC CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAatcctgactaccAGATCGAGACCCGACGC chr8:103213151-Alternative-T;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative C tgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GCAAGCTCGCAT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgcaagctcgcatAGATCGAGACCCGACGC chr8:103213151-Alternative-C;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative C tgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GACTGTCCTACA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgCcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgactgtcctacaAGATCGAGACCCGACGC chr8:103213151-Alternative-C;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative T tgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AGTCAACAAGCT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAagtcaacaagctAGATCGAGACCCGACGC chr8:103213151-Alternative-T;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Reference G tgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GGTTACTGATGT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAggttactgatgtAGATCGAGACCCGACGC chr8:103213151-Reference-G;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Reference G tgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct CAATGGCGATAA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAcaatggcgataaAGATCGAGACCCGACGC chr8:103213151-Reference-G;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Reference G tgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GTCCGCGATCAA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgtccgcgatcaaAGATCGAGACCCGACGC chr8:103213151-Reference-G;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Reference G tgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AGGCCATTGATT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAaggccattgattAGATCGAGACCCGACGC chr8:103213151-Reference-G;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative T tgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GAGCCTACCGTT CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgagcctaccgttAGATCGAGACCCGACGC chr8:103213151-Alternative-T;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative T tgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct GTTAGGATGCAC CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAgttaggatgcacAGATCGAGACCCGACGC chr8:103213151-Alternative-T;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Alternative T tgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct AGCAATGTCCGA CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgTcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAAagcaatgtccgaAGATCGAGACCCGACGC chr8:103213151-Alternative-T;Patient-64 chr8:103213151-GA DeNovo Patient-64 intergenic 0.000573 0.00205 -0.03 2.13 0.08 NCALD 76015 Reference G tgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttct CTATCCGAGTAC CGACGCGGTCTCTCTCTtgtcagaacttggacattatcattattgatgagagactataaagaacatgGcctttgaccattactcagacaattgagtaggcgacaggagaatgtttctAGAGGGAGACGGACGTCTCAATAActatccgagtacAGATCGAGACCCGACGC chr8:103213151-Reference-G;Patient-64 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Reference C aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaaccta ACTGCGGAGAAG CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAactgcggagaagAGATCGAGACCCGACGC chr8:103342878-Reference-C;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Variant T aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaaccta CGTGCTTCATAT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAcgtgcttcatatAGATCGAGACCCGACGC chr8:103342878-Variant-T;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Reference C aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaaccta ATTATGACCGAC CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAattatgaccgacAGATCGAGACCCGACGC chr8:103342878-Reference-C;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative A aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaaccta GTTCCGGTATAA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAgttccggtataaAGATCGAGACCCGACGC chr8:103342878-Alternative-A;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Variant T aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaaccta ACTACGTAGACA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAactacgtagacaAGATCGAGACCCGACGC chr8:103342878-Variant-T;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Variant T aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaaccta CAACGGCGACTT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAcaacggcgacttAGATCGAGACCCGACGC chr8:103342878-Variant-T;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative G aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaaccta GATGAGAATCGT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAgatgagaatcgtAGATCGAGACCCGACGC chr8:103342878-Alternative-G;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Reference C aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaaccta CGTGACATGGAT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAcgtgacatggatAGATCGAGACCCGACGC chr8:103342878-Reference-C;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative G aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaaccta ATCTTACTCCGA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAatcttactccgaAGATCGAGACCCGACGC chr8:103342878-Alternative-G;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Variant T aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaaccta ACTAGCTGACAT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAactagctgacatAGATCGAGACCCGACGC chr8:103342878-Variant-T;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative G aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaaccta AACACCATAAGG CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAaacaccataaggAGATCGAGACCCGACGC chr8:103342878-Alternative-G;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Variant T aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaaccta AGAATCGTGACA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaTggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAagaatcgtgacaAGATCGAGACCCGACGC chr8:103342878-Variant-T;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Reference C aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaaccta CAGCACATTGAC CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAcagcacattgacAGATCGAGACCCGACGC chr8:103342878-Reference-C;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative A aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaaccta CAGCTCGTCTGT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAcagctcgtctgtAGATCGAGACCCGACGC chr8:103342878-Alternative-A;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Reference C aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaaccta CTGTCAAGCAGA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaCggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAActgtcaagcagaAGATCGAGACCCGACGC chr8:103342878-Reference-C;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative G aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaaccta GGTTGGTCGAGA CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAggttggtcgagaAGATCGAGACCCGACGC chr8:103342878-Alternative-G;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative G aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaaccta AAGCATGGTTCT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaGggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAaagcatggttctAGATCGAGACCCGACGC chr8:103342878-Alternative-G;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative A aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaaccta GGAGTTCAACGG CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAggagttcaacggAGATCGAGACCCGACGC chr8:103342878-Alternative-A;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative A aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaaccta GCCACTCGTTGT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAgccactcgttgtAGATCGAGACCCGACGC chr8:103342878-Alternative-A;Patient-80 chr8:103342878-CT DeNovo Patient-80 intronic UBR5 3.2e-05 0.000142 -0.23 0.58 1.12 UBR5 82038 Alternative A aaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaaccta ACCAACGACGCT CGACGCGGTCTCTCTCTaaactgcatcaaattttacctttctacttcatattctcttctcaatcctaAggttaagaattaactataatggaatcagactaagtgagtccccaacctaAGAGGGAGACGGACGTCTCAATAAaccaacgacgctAGATCGAGACCCGACGC chr8:103342878-Alternative-A;Patient-80 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative A tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacact GGAACGACGGTT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAggaacgacggttAGATCGAGACCCGACGC chr8:103894387-Alternative-A;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative A tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacact ACGTTAGTACCA CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAacgttagtaccaAGATCGAGACCCGACGC chr8:103894387-Alternative-A;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative A tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacact AAGAATCACGGT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAaagaatcacggtAGATCGAGACCCGACGC chr8:103894387-Alternative-A;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative G tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacact AAGTTGGTACCT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAaagttggtacctAGATCGAGACCCGACGC chr8:103894387-Alternative-G;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative G tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacact CATCGTCGCAAG CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAcatcgtcgcaagAGATCGAGACCCGACGC chr8:103894387-Alternative-G;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative A tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacact AAGTTCTGCTTC CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAaagttctgcttcAGATCGAGACCCGACGC chr8:103894387-Alternative-A;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative G tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacact GGAGATTGTCGG CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAggagattgtcggAGATCGAGACCCGACGC chr8:103894387-Alternative-G;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Variant C tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacact ATCACGCTACAT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAatcacgctacatAGATCGAGACCCGACGC chr8:103894387-Variant-C;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative G tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacact CTTGAACTTGTC CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAActtgaacttgtcAGATCGAGACCCGACGC chr8:103894387-Alternative-G;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Variant C tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacact GAGATACCGTGG CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAgagataccgtggAGATCGAGACCCGACGC chr8:103894387-Variant-C;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Variant C tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacact CGGCATGAAGAT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAcggcatgaagatAGATCGAGACCCGACGC chr8:103894387-Variant-C;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative A tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacact CTAACAGCAACG CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaAtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAActaacagcaacgAGATCGAGACCCGACGC chr8:103894387-Alternative-A;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Reference T tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacact ACGCGCCAGTAA CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAacgcgccagtaaAGATCGAGACCCGACGC chr8:103894387-Reference-T;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Alternative G tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacact ACGAGTCGACGA CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaGtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAacgagtcgacgaAGATCGAGACCCGACGC chr8:103894387-Alternative-G;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Variant C tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacact GGTACATCAAGT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAggtacatcaagtAGATCGAGACCCGACGC chr8:103894387-Variant-C;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Variant C tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacact CAACAGTCGTGA CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaCtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAcaacagtcgtgaAGATCGAGACCCGACGC chr8:103894387-Variant-C;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Reference T tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacact CAACCGCAGATT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAcaaccgcagattAGATCGAGACCCGACGC chr8:103894387-Reference-T;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Reference T tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacact GCGAATCGGCTT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAgcgaatcggcttAGATCGAGACCCGACGC chr8:103894387-Reference-T;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Reference T tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacact CAAGTACACGTT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAcaagtacacgttAGATCGAGACCCGACGC chr8:103894387-Reference-T;Patient-65 chr8:103894387-TC DeNovo Patient-65 intergenic NA 0.000512821 0.21 6.02 1.45 AZIN1 17989 Reference T tgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacact AATGACCACGCT CGACGCGGTCTCTCTCTtgtccccatacctgcttttaaggtataatcacccaatcttttctttttaaTtgagctgaagttcacataacatacaattaaccattttaaagtacacactAGAGGGAGACGGACGTCTCAATAAaatgaccacgctAGATCGAGACCCGACGC chr8:103894387-Reference-T;Patient-65 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Variant A tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AACACCTACCGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaacacctaccgtAGATCGAGACCCGACGC chr8:104000855-Variant-A;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Variant A tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc CTGCGTAAGCGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAActgcgtaagcgtAGATCGAGACCCGACGC chr8:104000855-Variant-A;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative T tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AAGTCGTTGTGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaagtcgttgtgtAGATCGAGACCCGACGC chr8:104000855-Alternative-T;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Variant A tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc ATACGTCACACG CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAatacgtcacacgAGATCGAGACCCGACGC chr8:104000855-Variant-A;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative T tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc CTCATTACTCGG CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAActcattactcggAGATCGAGACCCGACGC chr8:104000855-Alternative-T;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative C tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AATCATGGAGCA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaatcatggagcaAGATCGAGACCCGACGC chr8:104000855-Alternative-C;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative T tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AAGCAGTTCTGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaagcagttctgtAGATCGAGACCCGACGC chr8:104000855-Alternative-T;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Reference G tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc GGTTCGGTTGCA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAggttcggttgcaAGATCGAGACCCGACGC chr8:104000855-Reference-G;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Reference G tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc CTTGGTTGACGG CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAActtggttgacggAGATCGAGACCCGACGC chr8:104000855-Reference-G;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Reference G tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc ACGTTGGCGTGA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAacgttggcgtgaAGATCGAGACCCGACGC chr8:104000855-Reference-G;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative T tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AGGACGTCCAAT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaggacgtccaatAGATCGAGACCCGACGC chr8:104000855-Alternative-T;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative T tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc GGAATGCGACCA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcTcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAggaatgcgaccaAGATCGAGACCCGACGC chr8:104000855-Alternative-T;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative C tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc ACGACAACTAAG CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAacgacaactaagAGATCGAGACCCGACGC chr8:104000855-Alternative-C;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative C tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AGGCTAGCAGGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaggctagcaggtAGATCGAGACCCGACGC chr8:104000855-Alternative-C;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Variant A tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc GGAACTCCTAGT CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAggaactcctagtAGATCGAGACCCGACGC chr8:104000855-Variant-A;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Variant A tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc CGTATCACGCAA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcAcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAcgtatcacgcaaAGATCGAGACCCGACGC chr8:104000855-Variant-A;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative C tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc GTACGTCGCTTC CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAgtacgtcgcttcAGATCGAGACCCGACGC chr8:104000855-Alternative-C;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Reference G tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc GACGTACGCAAG CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAgacgtacgcaagAGATCGAGACCCGACGC chr8:104000855-Reference-G;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Alternative C tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AAGATTACGGCA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcCcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAaagattacggcaAGATCGAGACCCGACGC chr8:104000855-Alternative-C;Patient-93 chr8:104000855-GA DeNovo Patient-93 intergenic 0.000449 0.000513 -0.28 0.43 -0.45 ATP6V1C1 32392 Reference G tataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggc AGACGGTGGAGA CGACGCGGTCTCTCTCTtataaatgatgtttatagtttcttttgaataaacatagaaattaaccctcGcaggccaggcatggtggctcatgcttgtaatctcagcactgtgggaggcAGAGGGAGACGGACGTCTCAATAAagacggtggagaAGATCGAGACCCGACGC chr8:104000855-Reference-G;Patient-93 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative G atctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggct CTGCATTCCAAC CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAActgcattccaacAGATCGAGACCCGACGC chr8:104015587-Alternative-G;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Reference T atctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggct AAGATACTAGCG CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaagatactagcgAGATCGAGACCCGACGC chr8:104015587-Reference-T;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Reference T atctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggct AGACGCATTATC CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAagacgcattatcAGATCGAGACCCGACGC chr8:104015587-Reference-T;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Reference T atctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggct GCAATCGTATGT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAgcaatcgtatgtAGATCGAGACCCGACGC chr8:104015587-Reference-T;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative G atctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggct CGTTGGTACGAC CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAcgttggtacgacAGATCGAGACCCGACGC chr8:104015587-Alternative-G;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Reference T atctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggct CACACGTCGAGA CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAcacacgtcgagaAGATCGAGACCCGACGC chr8:104015587-Reference-T;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative G atctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggct GTGAATAGTGGT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAgtgaatagtggtAGATCGAGACCCGACGC chr8:104015587-Alternative-G;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Variant C atctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggct AGGTAGCCACGA CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaggtagccacgaAGATCGAGACCCGACGC chr8:104015587-Variant-C;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative A atctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggct AGTGATCCGCGT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAagtgatccgcgtAGATCGAGACCCGACGC chr8:104015587-Alternative-A;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative A atctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggct AACGCGACGTGT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaacgcgacgtgtAGATCGAGACCCGACGC chr8:104015587-Alternative-A;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Variant C atctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggct AATCATAGCGAG CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaatcatagcgagAGATCGAGACCCGACGC chr8:104015587-Variant-C;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative G atctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggct CTCTGGTAGTTA CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAActctggtagttaAGATCGAGACCCGACGC chr8:104015587-Alternative-G;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative A atctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggct CGCACGCTAAGA CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAcgcacgctaagaAGATCGAGACCCGACGC chr8:104015587-Alternative-A;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative G atctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggct CACACAGAACGC CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccGacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAcacacagaacgcAGATCGAGACCCGACGC chr8:104015587-Alternative-G;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Variant C atctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggct ATCGTCACAGCG CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAatcgtcacagcgAGATCGAGACCCGACGC chr8:104015587-Variant-C;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Reference T atctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggct AAGGCTCTTAAC CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccTacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaaggctcttaacAGATCGAGACCCGACGC chr8:104015587-Reference-T;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative A atctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggct AAGACTGGCGCT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAaagactggcgctAGATCGAGACCCGACGC chr8:104015587-Alternative-A;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Alternative A atctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggct GCATTGACTCGG CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccAacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAgcattgactcggAGATCGAGACCCGACGC chr8:104015587-Alternative-A;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Variant C atctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggct ACCTGGACTAAT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAacctggactaatAGATCGAGACCCGACGC chr8:104015587-Variant-C;Patient-26 chr8:104015587-TC DeNovo Patient-26 intergenic 0.000127 0.00103 0.05 3.35 0.05 ATP6V1C1 17660 Variant C atctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggct CAGCATCGCAGT CGACGCGGTCTCTCTCTatctgctattctactactcctcagggattgttcaggccccctcccttcccCacacatcaagctcggggatttgcccccacccaggactggcaaattggctAGAGGGAGACGGACGTCTCAATAAcagcatcgcagtAGATCGAGACCCGACGC chr8:104015587-Variant-C;Patient-26 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Reference C aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc GGTACCTAGATT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAggtacctagattAGATCGAGACCCGACGC chr8:104045492-Reference-C;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Reference C aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc AGTACTGCGTAT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAagtactgcgtatAGATCGAGACCCGACGC chr8:104045492-Reference-C;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Reference C aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc CAGCAACAATGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAcagcaacaatgaAGATCGAGACCCGACGC chr8:104045492-Reference-C;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Reference C aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc AACACGCTCGGT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAaacacgctcggtAGATCGAGACCCGACGC chr8:104045492-Reference-C;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Reference C aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc GTGTCTCGTCCA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaCacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAgtgtctcgtccaAGATCGAGACCCGACGC chr8:104045492-Reference-C;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Variant A aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc AGACCGGCTAGT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAagaccggctagtAGATCGAGACCCGACGC chr8:104045492-Variant-A;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative G aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc AACTCCTTGCGG CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAaactccttgcggAGATCGAGACCCGACGC chr8:104045492-Alternative-G;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative G aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ACGTCTTCACCA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAacgtcttcaccaAGATCGAGACCCGACGC chr8:104045492-Alternative-G;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Variant A aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ACTGCTGTGATT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAactgctgtgattAGATCGAGACCCGACGC chr8:104045492-Variant-A;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative T aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc AACACGGATTGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAaacacggattgaAGATCGAGACCCGACGC chr8:104045492-Alternative-T;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Variant A aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc GTTGGTGTCCGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAgttggtgtccgaAGATCGAGACCCGACGC chr8:104045492-Variant-A;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Variant A aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc CGGCGAATTGGT CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAcggcgaattggtAGATCGAGACCCGACGC chr8:104045492-Variant-A;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative T aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ACTCGTGATCAA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAactcgtgatcaaAGATCGAGACCCGACGC chr8:104045492-Alternative-T;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative T aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc CTTACGCAGTAA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAActtacgcagtaaAGATCGAGACCCGACGC chr8:104045492-Alternative-T;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Variant A aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ATCTGCATCTAC CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaAacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAatctgcatctacAGATCGAGACCCGACGC chr8:104045492-Variant-A;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative T aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc GTGTAGCGCTGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAgtgtagcgctgaAGATCGAGACCCGACGC chr8:104045492-Alternative-T;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative T aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ACGTCGACGAGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaTacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAacgtcgacgagaAGATCGAGACCCGACGC chr8:104045492-Alternative-T;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative G aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc ACGTAGTCAATC CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAacgtagtcaatcAGATCGAGACCCGACGC chr8:104045492-Alternative-G;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative G aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc GGAATAATGCGA CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAggaataatgcgaAGATCGAGACCCGACGC chr8:104045492-Alternative-G;Patient-99 chr8:104045492-CA DeNovo Patient-99 intronic ATP6V1C1 0.000606 0.000319 -0.2 0.7 -0.39 ATP6V1C1 12243 Alternative G aggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgc CGCACTCGATAC CGACGCGGTCTCTCTCTaggtttggggatgatagaagtgtccttaatcttggttttgacagtgctcaGacaggtgtatacatttgtcaaaaactcatcaaactcttacaatgggtgcAGAGGGAGACGGACGTCTCAATAAcgcactcgatacAGATCGAGACCCGACGC chr8:104045492-Alternative-G;Patient-99 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Reference C ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GAGTCATCGGCA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAgagtcatcggcaAGATCGAGACCCGACGC chr8:104364797-Reference-C;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Reference C ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg ATTATGTGGTCG CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAattatgtggtcgAGATCGAGACCCGACGC chr8:104364797-Reference-C;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative A ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GCATCGGCTGAT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAgcatcggctgatAGATCGAGACCCGACGC chr8:104364797-Alternative-A;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Reference C ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg CAATACGCACCA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAcaatacgcaccaAGATCGAGACCCGACGC chr8:104364797-Reference-C;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Reference C ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GCGGTATCGTGT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAgcggtatcgtgtAGATCGAGACCCGACGC chr8:104364797-Reference-C;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative A ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AAGGCTTGTCAA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAaaggcttgtcaaAGATCGAGACCCGACGC chr8:104364797-Alternative-A;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Variant T ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg CAATGTCTCACG CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAcaatgtctcacgAGATCGAGACCCGACGC chr8:104364797-Variant-T;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Variant T ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AGACCGATTAAG CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAagaccgattaagAGATCGAGACCCGACGC chr8:104364797-Variant-T;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Variant T ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AGAGTAGGAGAT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAagagtaggagatAGATCGAGACCCGACGC chr8:104364797-Variant-T;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Reference C ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GGTACTGATACT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggCttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAggtactgatactAGATCGAGACCCGACGC chr8:104364797-Reference-C;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Variant T ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg CAGATACAACGA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAcagatacaacgaAGATCGAGACCCGACGC chr8:104364797-Variant-T;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative G ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AACGATGTGAAC CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAaacgatgtgaacAGATCGAGACCCGACGC chr8:104364797-Alternative-G;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative G ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AAGGTGTCTCGT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAaaggtgtctcgtAGATCGAGACCCGACGC chr8:104364797-Alternative-G;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative A ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GTATATGCGACT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAgtatatgcgactAGATCGAGACCCGACGC chr8:104364797-Alternative-A;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative A ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg CTTGCCGCCTTA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAActtgccgccttaAGATCGAGACCCGACGC chr8:104364797-Alternative-A;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative A ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg GAATTGTCGTAC CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggAttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAgaattgtcgtacAGATCGAGACCCGACGC chr8:104364797-Alternative-A;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative G ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AACCACGCTGAG CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAaaccacgctgagAGATCGAGACCCGACGC chr8:104364797-Alternative-G;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Variant T ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AACAACGATCGA CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggTttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAaacaacgatcgaAGATCGAGACCCGACGC chr8:104364797-Variant-T;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative G ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg AGACCTGGTACG CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAAagacctggtacgAGATCGAGACCCGACGC chr8:104364797-Alternative-G;Patient-22 chr8:104364797-CT Inherited Patient-22 intergenic NA 0.000513 -0.32 0.31 -2.2 CTHRC1 18945 Alternative G ttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactg CTCGCTATTGAT CGACGCGGTCTCTCTCTttagcctcagtgtaccttccggccctgtcttcctcagctaccctgcttggGttggtggtcatctctatgttgatgagtcctccaccaagcttcagaactgAGAGGGAGACGGACGTCTCAATAActcgctattgatAGATCGAGACCCGACGC chr8:104364797-Alternative-G;Patient-22 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative A ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatag GACTAACCTTCT CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAgactaaccttctAGATCGAGACCCGACGC chr8:108415220-Alternative-A;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative A ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatag AGCAGTATGGCG CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAagcagtatggcgAGATCGAGACCCGACGC chr8:108415220-Alternative-A;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative C ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag GAGTTGTGGACG CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAgagttgtggacgAGATCGAGACCCGACGC chr8:108415220-Alternative-C;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative C ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag GACTACACGTAA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAgactacacgtaaAGATCGAGACCCGACGC chr8:108415220-Alternative-C;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative C ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag CGGTCAAGAATA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAcggtcaagaataAGATCGAGACCCGACGC chr8:108415220-Alternative-C;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Variant T ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag CGTTCTGCATGC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAcgttctgcatgcAGATCGAGACCCGACGC chr8:108415220-Variant-T;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative C ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag AGATAGGCCGTC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAagataggccgtcAGATCGAGACCCGACGC chr8:108415220-Alternative-C;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative A ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatag ACTAGTGCCGTC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAactagtgccgtcAGATCGAGACCCGACGC chr8:108415220-Alternative-A;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative A ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatag CGTTAAGGAACA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAcgttaaggaacaAGATCGAGACCCGACGC chr8:108415220-Alternative-A;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative C ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag ATCATACGATGC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattCcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAatcatacgatgcAGATCGAGACCCGACGC chr8:108415220-Alternative-C;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Variant T ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag CTAGATGGCGCA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAActagatggcgcaAGATCGAGACCCGACGC chr8:108415220-Variant-T;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Alternative A ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatag CACGTGTTCGTC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattActtttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAcacgtgttcgtcAGATCGAGACCCGACGC chr8:108415220-Alternative-A;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Variant T ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag ACTTCACGCGCA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAacttcacgcgcaAGATCGAGACCCGACGC chr8:108415220-Variant-T;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Reference G ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag AACAAGTTCGCA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAaacaagttcgcaAGATCGAGACCCGACGC chr8:108415220-Reference-G;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Variant T ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag AAGTGACCGCGA CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAaagtgaccgcgaAGATCGAGACCCGACGC chr8:108415220-Variant-T;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Variant T ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag ATCGTCATTCGT CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattTcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAatcgtcattcgtAGATCGAGACCCGACGC chr8:108415220-Variant-T;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Reference G ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag ACAGACACTCGT CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAacagacactcgtAGATCGAGACCCGACGC chr8:108415220-Reference-G;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Reference G ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag GTTAACCGTACC CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAgttaaccgtaccAGATCGAGACCCGACGC chr8:108415220-Reference-G;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Reference G ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag CTACGTTAGCTT CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAActacgttagcttAGATCGAGACCCGACGC chr8:108415220-Reference-G;Patient-33 chr8:108415220-GT DeNovo Patient-33 intronic ANGPT1 0.000223 4.95e-05 NA NA NA ANGPT1 95033 Reference G ttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatag ACGCAAGTAGCT CGACGCGGTCTCTCTCTttttgtttgagaggatgaaaaattggaaataaccatatatcagttgaattGcttttggatacaggtgagaataacttgattaaagtggatcaaccaatagAGAGGGAGACGGACGTCTCAATAAacgcaagtagctAGATCGAGACCCGACGC chr8:108415220-Reference-G;Patient-33 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Variant A tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GATACGTGTACT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgatacgtgtactAGATCGAGACCCGACGC chr8:110086576-Variant-A;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Variant A tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca CAGGATTCCTAA CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcaggattcctaaAGATCGAGACCCGACGC chr8:110086576-Variant-A;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Variant A tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GGTTGATCGAAT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAggttgatcgaatAGATCGAGACCCGACGC chr8:110086576-Variant-A;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Variant A tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca AGCGTCTTCGTC CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAagcgtcttcgtcAGATCGAGACCCGACGC chr8:110086576-Variant-A;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative T tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GACATTCGGTCG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgacattcggtcgAGATCGAGACCCGACGC chr8:110086576-Alternative-T;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Reference C tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GTAGTCTAGCGG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgtagtctagcggAGATCGAGACCCGACGC chr8:110086576-Reference-C;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Reference C tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca AGCAGCAGTCGA CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAagcagcagtcgaAGATCGAGACCCGACGC chr8:110086576-Reference-C;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative G tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GTTGATTCTGAG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgttgattctgagAGATCGAGACCCGACGC chr8:110086576-Alternative-G;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Reference C tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GGATCGGAATCG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAggatcggaatcgAGATCGAGACCCGACGC chr8:110086576-Reference-C;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Variant A tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca CTTACACCGGAG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaActgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAActtacaccggagAGATCGAGACCCGACGC chr8:110086576-Variant-A;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative T tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca ATAGAGGTTGCT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAatagaggttgctAGATCGAGACCCGACGC chr8:110086576-Alternative-T;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative G tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GGTCGTGATTCG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAggtcgtgattcgAGATCGAGACCCGACGC chr8:110086576-Alternative-G;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative G tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GTGCTTCGATAA CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgtgcttcgataaAGATCGAGACCCGACGC chr8:110086576-Alternative-G;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative T tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GTCATTCGGTGG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgtcattcggtggAGATCGAGACCCGACGC chr8:110086576-Alternative-T;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative T tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca ACATATGGATCG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAacatatggatcgAGATCGAGACCCGACGC chr8:110086576-Alternative-T;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative G tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca CAAGGAGTCACG CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcaaggagtcacgAGATCGAGACCCGACGC chr8:110086576-Alternative-G;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative G tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca CGGATTAAGCTT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaGctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAcggattaagcttAGATCGAGACCCGACGC chr8:110086576-Alternative-G;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Reference C tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca GTTCGATACCTT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAgttcgataccttAGATCGAGACCCGACGC chr8:110086576-Reference-C;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Reference C tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca ATCGTCGTTGTT CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaCctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAAatcgtcgttgttAGATCGAGACCCGACGC chr8:110086576-Reference-C;Patient-89 chr8:110086576-CA Inherited Patient-89 intergenic NA 0.000513 -0.35 0.27 -0.95 TRHR 13076 Alternative T tccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtca CTGTTCCGACCA CGACGCGGTCTCTCTCTtccccataatacttagaatgtgtaggtgcggctgggcacagtggctcacaTctgtaatcccagctctttgggtggccaaggcgggcagatcacgaggtcaAGAGGGAGACGGACGTCTCAATAActgttccgaccaAGATCGAGACCCGACGC chr8:110086576-Alternative-T;Patient-89 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative G agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CGCTTATTCTGT CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAcgcttattctgtAGATCGAGACCCGACGC chr8:110153598-Alternative-G;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative G agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AAGATGCTGTGA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAaagatgctgtgaAGATCGAGACCCGACGC chr8:110153598-Alternative-G;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative G agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AACTTATAGGCG CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAaacttataggcgAGATCGAGACCCGACGC chr8:110153598-Alternative-G;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative G agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GTTATACTGGAC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAgttatactggacAGATCGAGACCCGACGC chr8:110153598-Alternative-G;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Variant T agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CGCATAAGTCGA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAcgcataagtcgaAGATCGAGACCCGACGC chr8:110153598-Variant-T;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative G agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AGTGACGAGAGT CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgGgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAagtgacgagagtAGATCGAGACCCGACGC chr8:110153598-Alternative-G;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Variant T agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AACGCGATACTT CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAaacgcgatacttAGATCGAGACCCGACGC chr8:110153598-Variant-T;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Variant T agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GTTGTTAGGCGC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAgttgttaggcgcAGATCGAGACCCGACGC chr8:110153598-Variant-T;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Reference C agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GGAATAAGCGGC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAggaataagcggcAGATCGAGACCCGACGC chr8:110153598-Reference-C;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Variant T agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AGCTAACCAAGA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAagctaaccaagaAGATCGAGACCCGACGC chr8:110153598-Variant-T;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative A agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa AGCTGCGATTGC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAagctgcgattgcAGATCGAGACCCGACGC chr8:110153598-Alternative-A;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative A agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GTGTATCTAACG CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAgtgtatctaacgAGATCGAGACCCGACGC chr8:110153598-Alternative-A;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative A agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CTTAACGTACGA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAActtaacgtacgaAGATCGAGACCCGACGC chr8:110153598-Alternative-A;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Variant T agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GCGAAGCCTGAA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgTgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAgcgaagcctgaaAGATCGAGACCCGACGC chr8:110153598-Variant-T;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative A agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CTGGTATCGCAG CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAActggtatcgcagAGATCGAGACCCGACGC chr8:110153598-Alternative-A;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Alternative A agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa GATCAGCTGACC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgAgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAgatcagctgaccAGATCGAGACCCGACGC chr8:110153598-Alternative-A;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Reference C agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa ATTCCGATGTGA CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAattccgatgtgaAGATCGAGACCCGACGC chr8:110153598-Reference-C;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Reference C agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CGTTCAGGACAC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAcgttcaggacacAGATCGAGACCCGACGC chr8:110153598-Reference-C;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Reference C agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa ATCGAACTTCCT CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAAatcgaacttcctAGATCGAGACCCGACGC chr8:110153598-Reference-C;Patient-87 chr8:110153598-CT Inherited Patient-87 intergenic 0.000446 0.000512821 -0.4 0.18 -3.25 TRHR 53944 Reference C agttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaa CTATACGGTCGC CGACGCGGTCTCTCTCTagttgtaaaatggagatattaattcctgccccccttatcttaaaggattgCgaggagcacaaacaggaataacaggtatgtaggtttttgcaaactctaaAGAGGGAGACGGACGTCTCAATAActatacggtcgcAGATCGAGACCCGACGC chr8:110153598-Reference-C;Patient-87 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative C acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AACTCTATGCCT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaactctatgcctAGATCGAGACCCGACGC chr8:11340463-Alternative-C;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Reference A acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CACTATGTGACA CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcactatgtgacaAGATCGAGACCCGACGC chr8:11340463-Reference-A;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative C acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AGGCAATCAGCG CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaggcaatcagcgAGATCGAGACCCGACGC chr8:11340463-Alternative-C;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Reference A acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggca GTTAACCGATGG CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAgttaaccgatggAGATCGAGACCCGACGC chr8:11340463-Reference-A;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative C acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggca GTAAGGTGTCTT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAgtaaggtgtcttAGATCGAGACCCGACGC chr8:11340463-Alternative-C;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Reference A acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AACTATCGCGAC CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaactatcgcgacAGATCGAGACCCGACGC chr8:11340463-Reference-A;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative C acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggca GGACATTATTGC CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAggacattattgcAGATCGAGACCCGACGC chr8:11340463-Alternative-C;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative T acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CACGCCTACAAC CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcacgcctacaacAGATCGAGACCCGACGC chr8:11340463-Alternative-T;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative T acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CGACCAGGCTAT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcgaccaggctatAGATCGAGACCCGACGC chr8:11340463-Alternative-T;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative C acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AAGATGGTGTAC CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacCgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaagatggtgtacAGATCGAGACCCGACGC chr8:11340463-Alternative-C;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Variant G acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggca ACAAGAGCTACA CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAacaagagctacaAGATCGAGACCCGACGC chr8:11340463-Variant-G;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Reference A acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CGGTCATTACTT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcggtcattacttAGATCGAGACCCGACGC chr8:11340463-Reference-A;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative T acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CACGCTTCCTGA CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcacgcttcctgaAGATCGAGACCCGACGC chr8:11340463-Alternative-T;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Variant G acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggca GATATACGTACC CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAgatatacgtaccAGATCGAGACCCGACGC chr8:11340463-Variant-G;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Variant G acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggca ATCCGCGAGTCT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAatccgcgagtctAGATCGAGACCCGACGC chr8:11340463-Variant-G;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative T acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AACTATGCCACA CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaactatgccacaAGATCGAGACCCGACGC chr8:11340463-Alternative-T;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Variant G acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggca ATAGTACCGACG CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAatagtaccgacgAGATCGAGACCCGACGC chr8:11340463-Variant-G;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Alternative T acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggca GCGTGATCCAAG CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacTgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAgcgtgatccaagAGATCGAGACCCGACGC chr8:11340463-Alternative-T;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Reference A acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggca CACGATTAGACT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacAgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAcacgattagactAGATCGAGACCCGACGC chr8:11340463-Reference-A;Patient-54 chr8:11340463-AG Inherited Patient-54 intergenic NA 0.000513 -0.01 2.52 -0.62 BLK 11057 Variant G acacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggca AATGTGCGCATT CGACGCGGTCTCTCTCTacacagtcactctgtctggtgatgattgctgtctctaactgcaaattgacGgggcaggaggtcagtagggaagcactccagattgttggctgagttggcaAGAGGGAGACGGACGTCTCAATAAaatgtgcgcattAGATCGAGACCCGACGC chr8:11340463-Variant-G;Patient-54 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Reference C gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AAGCACCATACT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAaagcaccatactAGATCGAGACCCGACGC chr8:11350845-Reference-C;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative G gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GACATACGCAGT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgacatacgcagtAGATCGAGACCCGACGC chr8:11350845-Alternative-G;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Reference C gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AGCAACCGTGCT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAagcaaccgtgctAGATCGAGACCCGACGC chr8:11350845-Reference-C;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Reference C gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc ACTTCACCGCCA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAacttcaccgccaAGATCGAGACCCGACGC chr8:11350845-Reference-C;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative G gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GTAATCACGTCA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgtaatcacgtcaAGATCGAGACCCGACGC chr8:11350845-Alternative-G;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Reference C gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc CACGATTCCAAT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAcacgattccaatAGATCGAGACCCGACGC chr8:11350845-Reference-C;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative G gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GCAGTTAAGGCG CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgcagttaaggcgAGATCGAGACCCGACGC chr8:11350845-Alternative-G;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative G gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GTTCGCATGAGA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgttcgcatgagaAGATCGAGACCCGACGC chr8:11350845-Alternative-G;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Variant T gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc ACGTACGTATGT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAacgtacgtatgtAGATCGAGACCCGACGC chr8:11350845-Variant-T;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative G gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GAAGAGTACCGA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgGgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgaagagtaccgaAGATCGAGACCCGACGC chr8:11350845-Alternative-G;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Variant T gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AGCAGGTCAATA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAagcaggtcaataAGATCGAGACCCGACGC chr8:11350845-Variant-T;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Variant T gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AACGTCGCGCTT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAaacgtcgcgcttAGATCGAGACCCGACGC chr8:11350845-Variant-T;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative A gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AAGTAATACCGG CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAaagtaataccggAGATCGAGACCCGACGC chr8:11350845-Alternative-A;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Variant T gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GGCCAATATTCT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAggccaatattctAGATCGAGACCCGACGC chr8:11350845-Variant-T;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Reference C gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GCAATGGTATGC CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgCgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgcaatggtatgcAGATCGAGACCCGACGC chr8:11350845-Reference-C;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative A gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GCGACTTCAGCA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgcgacttcagcaAGATCGAGACCCGACGC chr8:11350845-Alternative-A;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative A gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GGACGACTCGAA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAggacgactcgaaAGATCGAGACCCGACGC chr8:11350845-Alternative-A;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative A gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc AGCGTTGTGACT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAagcgttgtgactAGATCGAGACCCGACGC chr8:11350845-Alternative-A;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Variant T gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc CTTACAACACCT CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgTgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAActtacaacacctAGATCGAGACCCGACGC chr8:11350845-Variant-T;Patient-83 chr8:11350845-CT DeNovo Patient-83 intergenic 3.2e-05 0.000512821 0.12 4.58 0.94 BLK 675 Alternative A gggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagc GACGCTGAATGA CGACGCGGTCTCTCTCTgggaagtgaaacagattatttccatagtgtcttaaaaccccagaactctgAgttgctgcgtctattgacatgaacacctgtcaaacctgcaactcatagcAGAGGGAGACGGACGTCTCAATAAgacgctgaatgaAGATCGAGACCCGACGC chr8:11350845-Alternative-A;Patient-83 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative A aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct ACATCGCACGTC CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAacatcgcacgtcAGATCGAGACCCGACGC chr8:11369067-Alternative-A;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative A aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct CAAGTAACGCTA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAcaagtaacgctaAGATCGAGACCCGACGC chr8:11369067-Alternative-A;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Variant T aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct ACTAGCGCGTCA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAactagcgcgtcaAGATCGAGACCCGACGC chr8:11369067-Variant-T;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Variant T aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GGCGATCGCTAA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAggcgatcgctaaAGATCGAGACCCGACGC chr8:11369067-Variant-T;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Variant T aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GTAGGTTATGAG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAgtaggttatgagAGATCGAGACCCGACGC chr8:11369067-Variant-T;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Reference C aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct AGTCGATTACCA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAagtcgattaccaAGATCGAGACCCGACGC chr8:11369067-Reference-C;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Reference C aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct AGTCGTGCGAAC CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAagtcgtgcgaacAGATCGAGACCCGACGC chr8:11369067-Reference-C;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative A aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GGCTTCTGGTTC CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAggcttctggttcAGATCGAGACCCGACGC chr8:11369067-Alternative-A;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative A aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GTTGGAAGGACG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAgttggaaggacgAGATCGAGACCCGACGC chr8:11369067-Alternative-A;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Reference C aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GGAGAAGTTCGA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAggagaagttcgaAGATCGAGACCCGACGC chr8:11369067-Reference-C;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Reference C aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct CGAGGCTGTAGA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAcgaggctgtagaAGATCGAGACCCGACGC chr8:11369067-Reference-C;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative A aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct ACGGCTAGTACA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaAacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAacggctagtacaAGATCGAGACCCGACGC chr8:11369067-Alternative-A;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Reference C aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct CTCAACTATGAG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaCacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAActcaactatgagAGATCGAGACCCGACGC chr8:11369067-Reference-C;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative G aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct AGGCGCAACAAG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAaggcgcaacaagAGATCGAGACCCGACGC chr8:11369067-Alternative-G;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative G aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GTGTCTCGTAGG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAgtgtctcgtaggAGATCGAGACCCGACGC chr8:11369067-Alternative-G;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Variant T aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GGTATGCTGTGC CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAggtatgctgtgcAGATCGAGACCCGACGC chr8:11369067-Variant-T;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Variant T aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct ACTGGCGCGAAT CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaTacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAactggcgcgaatAGATCGAGACCCGACGC chr8:11369067-Variant-T;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative G aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GATCAACTGGCG CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAgatcaactggcgAGATCGAGACCCGACGC chr8:11369067-Alternative-G;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative G aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct GGTCGGTTGTGT CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAggtcggttgtgtAGATCGAGACCCGACGC chr8:11369067-Alternative-G;Patient-54 chr8:11369067-CT Inherited Patient-54 intronic BLK 0.000287 0.000479 -0.38 0.21 -0.91 BLK 17545 Alternative G aagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttct AGCTCGTGATGA CGACGCGGTCTCTCTCTaagtttgatttgctttctctcttagaaattctgtcttaaatttccttaaaGacaagtgtgtatacctggagcaaagaacatggggtgtaattcaatttctAGAGGGAGACGGACGTCTCAATAAagctcgtgatgaAGATCGAGACCCGACGC chr8:11369067-Alternative-G;Patient-54 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative G tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CACGATGTGATT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAcacgatgtgattAGATCGAGACCCGACGC chr8:11447776-Alternative-G;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Variant T tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc ATCACGCTAGCT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAatcacgctagctAGATCGAGACCCGACGC chr8:11447776-Variant-T;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative G tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc GGAATTGACCGG CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAggaattgaccggAGATCGAGACCCGACGC chr8:11447776-Alternative-G;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative A tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc AGTGTTGGCGGT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAagtgttggcggtAGATCGAGACCCGACGC chr8:11447776-Alternative-A;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative G tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc AGTGTCGGTAGG CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAagtgtcggtaggAGATCGAGACCCGACGC chr8:11447776-Alternative-G;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Variant T tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CATCGCGTGCAT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAcatcgcgtgcatAGATCGAGACCCGACGC chr8:11447776-Variant-T;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Reference C tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc ATCGTCTAGCAA CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAatcgtctagcaaAGATCGAGACCCGACGC chr8:11447776-Reference-C;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative G tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc AAGTGAGGCAGT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAaagtgaggcagtAGATCGAGACCCGACGC chr8:11447776-Alternative-G;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Variant T tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CGTTCCTAGATT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAcgttcctagattAGATCGAGACCCGACGC chr8:11447776-Variant-T;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative A tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CTCGTAGTGTGG CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAActcgtagtgtggAGATCGAGACCCGACGC chr8:11447776-Alternative-A;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative G tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc GATTACGCACCT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcGttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAgattacgcacctAGATCGAGACCCGACGC chr8:11447776-Alternative-G;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Variant T tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc GTGCTTCTAGAA CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAgtgcttctagaaAGATCGAGACCCGACGC chr8:11447776-Variant-T;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative A tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc ATCGCACTTAAC CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAatcgcacttaacAGATCGAGACCCGACGC chr8:11447776-Alternative-A;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative A tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CTACGGAATCAA CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAActacggaatcaaAGATCGAGACCCGACGC chr8:11447776-Alternative-A;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Reference C tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc AACTCGTCCTAA CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAaactcgtcctaaAGATCGAGACCCGACGC chr8:11447776-Reference-C;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Reference C tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc GGTCACGCTAGT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAggtcacgctagtAGATCGAGACCCGACGC chr8:11447776-Reference-C;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Alternative A tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CATGTTCGACCG CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcAttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAcatgttcgaccgAGATCGAGACCCGACGC chr8:11447776-Alternative-A;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Reference C tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc GTCGGATATACT CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAgtcggatatactAGATCGAGACCCGACGC chr8:11447776-Reference-C;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Variant T tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc CGGATAGTTAAC CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcTttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAcggatagttaacAGATCGAGACCCGACGC chr8:11447776-Variant-T;Patient-88 chr8:11447776-CT DeNovo Patient-88 intergenic 3.2e-05 0.000513 0.4 8.4 2.57 BLK 96254 Reference C tggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttc ACATATGGCGGC CGACGCGGTCTCTCTCTtggcctccagcccagtcgagaatctgacttgaacttaacacagacatttcCttcttgaaagaaaaggtcactctatcggtctgattctttctgttatttcAGAGGGAGACGGACGTCTCAATAAacatatggcggcAGATCGAGACCCGACGC chr8:11447776-Reference-C;Patient-88 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative G tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac AACAACGGTCCA CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAaacaacggtccaAGATCGAGACCCGACGC chr8:11523901-Alternative-G;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative G tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GCGCATCTTGCA CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgcgcatcttgcaAGATCGAGACCCGACGC chr8:11523901-Alternative-G;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Variant T tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GCGTTGGTTCAC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgcgttggttcacAGATCGAGACCCGACGC chr8:11523901-Variant-T;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Variant T tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GTAGGATACCTT CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgtaggataccttAGATCGAGACCCGACGC chr8:11523901-Variant-T;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative A tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GCACGTTGGTTC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgcacgttggttcAGATCGAGACCCGACGC chr8:11523901-Alternative-A;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Variant T tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac ATAATGTGGTGG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAataatgtggtggAGATCGAGACCCGACGC chr8:11523901-Variant-T;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative A tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac CAAGTCGAACGG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAcaagtcgaacggAGATCGAGACCCGACGC chr8:11523901-Alternative-A;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative A tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GGTCTGAACGAG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAggtctgaacgagAGATCGAGACCCGACGC chr8:11523901-Alternative-A;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Reference C tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac CGTATCTTCCGG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAcgtatcttccggAGATCGAGACCCGACGC chr8:11523901-Reference-C;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Variant T tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GCCGTCAATAAC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgccgtcaataacAGATCGAGACCCGACGC chr8:11523901-Variant-T;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative A tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GTACGACCGAAC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgtacgaccgaacAGATCGAGACCCGACGC chr8:11523901-Alternative-A;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative G tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac AGTCAGTACACG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAagtcagtacacgAGATCGAGACCCGACGC chr8:11523901-Alternative-G;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative G tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac AACAACTCACGT CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAaacaactcacgtAGATCGAGACCCGACGC chr8:11523901-Alternative-G;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative G tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac ACGTCTAGGTCG CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgGgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAacgtctaggtcgAGATCGAGACCCGACGC chr8:11523901-Alternative-G;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Reference C tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac CAACCGAACATA CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAcaaccgaacataAGATCGAGACCCGACGC chr8:11523901-Reference-C;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Variant T tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac AATCGCGGCCAA CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgTgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAaatcgcggccaaAGATCGAGACCCGACGC chr8:11523901-Variant-T;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Reference C tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GCAACATCGCAC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgcaacatcgcacAGATCGAGACCCGACGC chr8:11523901-Reference-C;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Alternative A tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac GTATCGGAATGT CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgAgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAgtatcggaatgtAGATCGAGACCCGACGC chr8:11523901-Alternative-A;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Reference C tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac ACCAACTGTCTT CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAaccaactgtcttAGATCGAGACCCGACGC chr8:11523901-Reference-C;Patient-101 chr8:11523901-CT DeNovo Patient-101 intergenic 0.00026 0.001538462 -0.7 0.02 -0.61 GATA4 37815 Reference C tggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcac AACGGCTCAACC CGACGCGGTCTCTCTCTtggtggcacacatctgtagtcccagctactcaggaagggaggttgaggtgCgaggatcacttgagccagggaagttgaggctgcagtaagctgtgatcacAGAGGGAGACGGACGTCTCAATAAaacggctcaaccAGATCGAGACCCGACGC chr8:11523901-Reference-C;Patient-101 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Reference T taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc CATAGTACTCGA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAcatagtactcgaAGATCGAGACCCGACGC chr8:116601446-Reference-T;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative A taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc ATCTGTGTTAGG CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAatctgtgttaggAGATCGAGACCCGACGC chr8:116601446-Alternative-A;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative A taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GATAATCTCCGA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgataatctccgaAGATCGAGACCCGACGC chr8:116601446-Alternative-A;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Variant C taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc ATCGGATGGCTT CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAatcggatggcttAGATCGAGACCCGACGC chr8:116601446-Variant-C;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative A taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc CTGAGGTTCGCA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAActgaggttcgcaAGATCGAGACCCGACGC chr8:116601446-Alternative-A;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Variant C taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GTTCTAGGTTCT CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgttctaggttctAGATCGAGACCCGACGC chr8:116601446-Variant-C;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative G taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GTTGTTGCGTAA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgttgttgcgtaaAGATCGAGACCCGACGC chr8:116601446-Alternative-G;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative A taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc ATTATCGACGAC CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAattatcgacgacAGATCGAGACCCGACGC chr8:116601446-Alternative-A;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Reference T taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc ACGATACGGCAG CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAacgatacggcagAGATCGAGACCCGACGC chr8:116601446-Reference-T;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative G taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc CTATCGCTACTA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAActatcgctactaAGATCGAGACCCGACGC chr8:116601446-Alternative-G;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Variant C taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc AATCTGTCGAGT CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAaatctgtcgagtAGATCGAGACCCGACGC chr8:116601446-Variant-C;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Reference T taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc CGTGTATTGAAC CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAcgtgtattgaacAGATCGAGACCCGACGC chr8:116601446-Reference-T;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Variant C taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GGCGAGCGATAT CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAggcgagcgatatAGATCGAGACCCGACGC chr8:116601446-Variant-C;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Variant C taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc AAGACGCGGAAC CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcCttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAaagacgcggaacAGATCGAGACCCGACGC chr8:116601446-Variant-C;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative A taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GCGACAACATAA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcAttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgcgacaacataaAGATCGAGACCCGACGC chr8:116601446-Alternative-A;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Reference T taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GTACCTCATGTT CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgtacctcatgttAGATCGAGACCCGACGC chr8:116601446-Reference-T;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Reference T taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GCAGTCGTCAGA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcTttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgcagtcgtcagaAGATCGAGACCCGACGC chr8:116601446-Reference-T;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative G taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc ATAGGCGGTAGA CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAataggcggtagaAGATCGAGACCCGACGC chr8:116601446-Alternative-G;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative G taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc AAGTCATGGCGC CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAaagtcatggcgcAGATCGAGACCCGACGC chr8:116601446-Alternative-G;Patient-110 chr8:116601446-TC DeNovo Patient-110 intronic TRPS1 NA 3.98e-05 0.28 6.94 0.55 TRPS1 79781 Alternative G taagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggc GAGTTGATGTTC CGACGCGGTCTCTCTCTtaagtgtgaggaagaatgtcaactgacaagcttgaagggttatctagagcGttgtaggtcatggtagggacaggggatctcgtcaaaggtaaaggaaggcAGAGGGAGACGGACGTCTCAATAAgagttgatgttcAGATCGAGACCCGACGC chr8:116601446-Alternative-G;Patient-110 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Reference G ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GATAGGATCGAT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAgataggatcgatAGATCGAGACCCGACGC chr8:11674965-Reference-G;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Reference G ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GGAACACGTAAG CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAggaacacgtaagAGATCGAGACCCGACGC chr8:11674965-Reference-G;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Reference G ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ATCTCATGCAAG CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAatctcatgcaagAGATCGAGACCCGACGC chr8:11674965-Reference-G;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative C ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GAGTCCGGACAT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAgagtccggacatAGATCGAGACCCGACGC chr8:11674965-Alternative-C;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Reference G ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ACGTTGCCGATA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAacgttgccgataAGATCGAGACCCGACGC chr8:11674965-Reference-G;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative T ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt AATACGCGGTAA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAaatacgcggtaaAGATCGAGACCCGACGC chr8:11674965-Alternative-T;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative T ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt CTCTTGACGTAA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAActcttgacgtaaAGATCGAGACCCGACGC chr8:11674965-Alternative-T;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative T ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GCGTATATAGGT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAgcgtatataggtAGATCGAGACCCGACGC chr8:11674965-Alternative-T;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Variant A ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt AGGCAAGTAACT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAaggcaagtaactAGATCGAGACCCGACGC chr8:11674965-Variant-A;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Reference G ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ACATAGCTCTGT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttGtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAacatagctctgtAGATCGAGACCCGACGC chr8:11674965-Reference-G;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative T ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt CAACGTACGCCT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAcaacgtacgcctAGATCGAGACCCGACGC chr8:11674965-Alternative-T;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative T ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GGATGCAACTAA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttTtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAggatgcaactaaAGATCGAGACCCGACGC chr8:11674965-Alternative-T;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Variant A ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt GGATGCTCTCGA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAggatgctctcgaAGATCGAGACCCGACGC chr8:11674965-Variant-A;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Variant A ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ACTAGATCGTCA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAactagatcgtcaAGATCGAGACCCGACGC chr8:11674965-Variant-A;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative C ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt CGGACCATCGAA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAcggaccatcgaaAGATCGAGACCCGACGC chr8:11674965-Alternative-C;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative C ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt CATCGGTAAGAA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAcatcggtaagaaAGATCGAGACCCGACGC chr8:11674965-Alternative-C;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Variant A ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt CAACGCATGCAT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAcaacgcatgcatAGATCGAGACCCGACGC chr8:11674965-Variant-A;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative C ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ACGAGGTACCGA CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAacgaggtaccgaAGATCGAGACCCGACGC chr8:11674965-Alternative-C;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Variant A ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt AGCTCTTAGGAT CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttAtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAagctcttaggatAGATCGAGACCCGACGC chr8:11674965-Variant-A;Patient-64 chr8:11674965-GA DeNovo Patient-64 intronic FDFT1 NA 4.95e-05 0.72 11.27 0.11 FDFT1 14774 Alternative C ctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttctt ATATGGATACGC CGACGCGGTCTCTCTCTctctttttctattggaatagtttcagaaggaatggtaccagctcctctttCtacctctggtagaattcggctgtgaatctgtctgttcctggactttcttAGAGGGAGACGGACGTCTCAATAAatatggatacgcAGATCGAGACCCGACGC chr8:11674965-Alternative-C;Patient-64 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Reference T tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GCGTAGCAGCTA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAgcgtagcagctaAGATCGAGACCCGACGC chr8:117724571-Reference-T;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative G tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag AAGAACGATTGC CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAaagaacgattgcAGATCGAGACCCGACGC chr8:117724571-Alternative-G;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Reference T tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CGTAGCATTGAT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcgtagcattgatAGATCGAGACCCGACGC chr8:117724571-Reference-T;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative G tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CACGTAATGACG CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcacgtaatgacgAGATCGAGACCCGACGC chr8:117724571-Alternative-G;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Reference T tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GGCACGGTTGTT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAggcacggttgttAGATCGAGACCCGACGC chr8:117724571-Reference-T;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Reference T tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CATAACTCGTTC CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcataactcgttcAGATCGAGACCCGACGC chr8:117724571-Reference-T;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Variant C tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag AGAATGAAGACG CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAagaatgaagacgAGATCGAGACCCGACGC chr8:117724571-Variant-C;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Variant C tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CAGATCCTCGTC CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcagatcctcgtcAGATCGAGACCCGACGC chr8:117724571-Variant-C;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative A tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag ACAGATGCATCA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAacagatgcatcaAGATCGAGACCCGACGC chr8:117724571-Alternative-A;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative G tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GTGTACCGTCCT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAgtgtaccgtcctAGATCGAGACCCGACGC chr8:117724571-Alternative-G;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative G tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GGAACGAGTATT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAggaacgagtattAGATCGAGACCCGACGC chr8:117724571-Alternative-G;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Variant C tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CAGCGTACAAGT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcagcgtacaagtAGATCGAGACCCGACGC chr8:117724571-Variant-C;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative G tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag AGCCGGTATGCT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaGtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAagccggtatgctAGATCGAGACCCGACGC chr8:117724571-Alternative-G;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Variant C tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag ACTATAGAGCGA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAactatagagcgaAGATCGAGACCCGACGC chr8:117724571-Variant-C;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Reference T tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GGTGGACGCATA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaTtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAggtggacgcataAGATCGAGACCCGACGC chr8:117724571-Reference-T;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative A tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag GCATAAGGAGAA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAgcataaggagaaAGATCGAGACCCGACGC chr8:117724571-Alternative-A;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative A tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CAAGGAACTACC CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAcaaggaactaccAGATCGAGACCCGACGC chr8:117724571-Alternative-A;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative A tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag ACGTTCGTGACG CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAacgttcgtgacgAGATCGAGACCCGACGC chr8:117724571-Alternative-A;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Alternative A tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag CTGCTACATCTA CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaAtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAActgctacatctaAGATCGAGACCCGACGC chr8:117724571-Alternative-A;Patient-1 chr8:117724571-TC DeNovo Patient-1 intronic EIF3H NA 4.95e-05 -0.17 0.89 -1.43 EIF3H 43490 Variant C tatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaag ACAACGAATGGT CGACGCGGTCTCTCTCTtatacaccagaaaaaagatgagtacaattctgcaaagaccactagaataaCtgtatggccctctcatcggtcacaggaaagaagggctgtctatcaaaagAGAGGGAGACGGACGTCTCAATAAacaacgaatggtAGATCGAGACCCGACGC chr8:117724571-Variant-C;Patient-1 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Variant G tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag AATCGACTATCG CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAaatcgactatcgAGATCGAGACCCGACGC chr8:117731791-Variant-G;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative T tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CGTTCACCGAAC CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcgttcaccgaacAGATCGAGACCCGACGC chr8:117731791-Alternative-T;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Variant G tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CATAACTCGCTT CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcataactcgcttAGATCGAGACCCGACGC chr8:117731791-Variant-G;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Variant G tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag AAGTACGGACCG CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAaagtacggaccgAGATCGAGACCCGACGC chr8:117731791-Variant-G;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Variant G tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag AGCTTCTCTTGA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAagcttctcttgaAGATCGAGACCCGACGC chr8:117731791-Variant-G;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Variant G tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag GTTACGTTGACA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagGgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAgttacgttgacaAGATCGAGACCCGACGC chr8:117731791-Variant-G;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative T tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CAGCTTGCGAAG CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcagcttgcgaagAGATCGAGACCCGACGC chr8:117731791-Alternative-T;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative T tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag AAGGCGAACTTA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAaaggcgaacttaAGATCGAGACCCGACGC chr8:117731791-Alternative-T;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative T tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CAGCAGCACGAA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcagcagcacgaaAGATCGAGACCCGACGC chr8:117731791-Alternative-T;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative T tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag ACTAACCTGACA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagTgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAactaacctgacaAGATCGAGACCCGACGC chr8:117731791-Alternative-T;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Reference A tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag GCGCTAGACTGA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAgcgctagactgaAGATCGAGACCCGACGC chr8:117731791-Reference-A;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Reference A tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CAGCAATGGACG CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcagcaatggacgAGATCGAGACCCGACGC chr8:117731791-Reference-A;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Reference A tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag GACGCGCAGATA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAgacgcgcagataAGATCGAGACCCGACGC chr8:117731791-Reference-A;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative C tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CGTATGTGCGCA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcgtatgtgcgcaAGATCGAGACCCGACGC chr8:117731791-Alternative-C;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative C tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag ACTTAACTGGCA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAacttaactggcaAGATCGAGACCCGACGC chr8:117731791-Alternative-C;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Reference A tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CGTCTAGCGTCA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcgtctagcgtcaAGATCGAGACCCGACGC chr8:117731791-Reference-A;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative C tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag ACGCAACGTAAC CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAacgcaacgtaacAGATCGAGACCCGACGC chr8:117731791-Alternative-C;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Reference A tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag GAGGTGAATAAG CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagAgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAgaggtgaataagAGATCGAGACCCGACGC chr8:117731791-Reference-A;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative C tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag CAGGACGTGACA CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAcaggacgtgacaAGATCGAGACCCGACGC chr8:117731791-Alternative-C;Patient-30 chr8:117731791-AG Inherited Patient-30 intronic EIF3H 3.2e-05 4.95e-05 NA NA NA EIF3H 36270 Alternative C tagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggag AACACGCCGGTT CGACGCGGTCTCTCTCTtagtcatccaggaaaaaggccagatagaggacagcacacaaataaaaaagCgggaatgttaccatcaccaagaacacagtcattctaaagggttgaggagAGAGGGAGACGGACGTCTCAATAAaacacgccggttAGATCGAGACCCGACGC chr8:117731791-Alternative-C;Patient-30 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative G taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg GTGACGTTCGAC CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAgtgacgttcgacAGATCGAGACCCGACGC chr8:117807260-Alternative-G;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative G taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ACCTAATTGTCG CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAacctaattgtcgAGATCGAGACCCGACGC chr8:117807260-Alternative-G;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative G taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ACATAGGCGTGC CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAacataggcgtgcAGATCGAGACCCGACGC chr8:117807260-Alternative-G;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative G taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CGACTTAGGTTA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAcgacttaggttaAGATCGAGACCCGACGC chr8:117807260-Alternative-G;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Variant T taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ACATAGGCTCGA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAacataggctcgaAGATCGAGACCCGACGC chr8:117807260-Variant-T;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative G taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ATACGTACCGCA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttGccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAatacgtaccgcaAGATCGAGACCCGACGC chr8:117807260-Alternative-G;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Variant T taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CGCGTTCGCATA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAcgcgttcgcataAGATCGAGACCCGACGC chr8:117807260-Variant-T;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Variant T taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg GAGTGCGGCAAT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAgagtgcggcaatAGATCGAGACCCGACGC chr8:117807260-Variant-T;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Variant T taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg GAATGAAGCCTT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAgaatgaagccttAGATCGAGACCCGACGC chr8:117807260-Variant-T;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Variant T taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg GGTGCGATTGAT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttTccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAggtgcgattgatAGATCGAGACCCGACGC chr8:117807260-Variant-T;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative A taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ACTGGTTGGTCG CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAactggttggtcgAGATCGAGACCCGACGC chr8:117807260-Alternative-A;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative A taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CATAGCGATTCA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAcatagcgattcaAGATCGAGACCCGACGC chr8:117807260-Alternative-A;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Reference C taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg AACGCGTACACG CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAaacgcgtacacgAGATCGAGACCCGACGC chr8:117807260-Reference-C;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Reference C taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CAACTAGATCGC CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAcaactagatcgcAGATCGAGACCCGACGC chr8:117807260-Reference-C;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative A taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg AAGGACGCTCGA CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAaaggacgctcgaAGATCGAGACCCGACGC chr8:117807260-Alternative-A;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative A taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CGTTCTCATAGT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAcgttctcatagtAGATCGAGACCCGACGC chr8:117807260-Alternative-A;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Reference C taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg ATTACGCCACTT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAattacgccacttAGATCGAGACCCGACGC chr8:117807260-Reference-C;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Reference C taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg CTAGGCCATTCG CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAActaggccattcgAGATCGAGACCCGACGC chr8:117807260-Reference-C;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Reference C taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg GAGTTGCGACCT CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttCccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAgagttgcgacctAGATCGAGACCCGACGC chr8:117807260-Reference-C;Patient-56 chr8:117807260-CT DeNovo Patient-56 intergenic NA 0.000513 -0.09 1.51 -0.17 RAD21 79844 Alternative A taatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtg AGATACACGTCC CGACGCGGTCTCTCTCTtaatgctcttctccactgcactcccaaaacaggccccagtgtatgtggttAccgtccctgtgtccatgtgttcttattgtccagctcccacttataagtgAGAGGGAGACGGACGTCTCAATAAagatacacgtccAGATCGAGACCCGACGC chr8:117807260-Alternative-A;Patient-56 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Variant G ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga AGTCGGAGCGAT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAagtcggagcgatAGATCGAGACCCGACGC chr8:117839150-Variant-G;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Variant G ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga CGGACTTAAGTT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAcggacttaagttAGATCGAGACCCGACGC chr8:117839150-Variant-G;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Variant G ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GGACGACAGTAA CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAggacgacagtaaAGATCGAGACCCGACGC chr8:117839150-Variant-G;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Variant G ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ACTCGGCCTGAA CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAactcggcctgaaAGATCGAGACCCGACGC chr8:117839150-Variant-G;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Variant G ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ACGCATTCGCAG CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagGgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAacgcattcgcagAGATCGAGACCCGACGC chr8:117839150-Variant-G;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative T ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga CAGGTAGGATAT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAcaggtaggatatAGATCGAGACCCGACGC chr8:117839150-Alternative-T;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative T ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ACGAGTCCACGT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAacgagtccacgtAGATCGAGACCCGACGC chr8:117839150-Alternative-T;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative T ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga AGGCGGTCATCA CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAaggcggtcatcaAGATCGAGACCCGACGC chr8:117839150-Alternative-T;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative T ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GTGTTGCGAACG CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAgtgttgcgaacgAGATCGAGACCCGACGC chr8:117839150-Alternative-T;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative T ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GGTGGCGTTAGA CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagTgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAggtggcgttagaAGATCGAGACCCGACGC chr8:117839150-Alternative-T;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative C ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GATGATGTGTTC CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAgatgatgtgttcAGATCGAGACCCGACGC chr8:117839150-Alternative-C;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Reference A ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga AGCTAAGGCGGT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAagctaaggcggtAGATCGAGACCCGACGC chr8:117839150-Reference-A;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Reference A ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GTAGGTTATCGT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAgtaggttatcgtAGATCGAGACCCGACGC chr8:117839150-Reference-A;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative C ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga GACTGCGCAGAT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAgactgcgcagatAGATCGAGACCCGACGC chr8:117839150-Alternative-C;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative C ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga CGGATTCGTGGT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAcggattcgtggtAGATCGAGACCCGACGC chr8:117839150-Alternative-C;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Reference A ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga AGATACTCATGC CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAagatactcatgcAGATCGAGACCCGACGC chr8:117839150-Reference-A;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Reference A ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ACCTAATCCGAA CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAacctaatccgaaAGATCGAGACCCGACGC chr8:117839150-Reference-A;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative C ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ACTTCCTAGGTT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAacttcctaggttAGATCGAGACCCGACGC chr8:117839150-Alternative-C;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Alternative C ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga CTGAATCAGACT CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagCgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAActgaatcagactAGATCGAGACCCGACGC chr8:117839150-Alternative-C;Patient-61 chr8:117839150-AG Inherited Patient-61 intergenic 0.000637 0.000513 -0.02 2.35 0.23 RAD21 47954 Reference A ggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtga ATTCATGCGAAG CGACGCGGTCTCTCTCTggtaaggtgactcacacctgtaatctcaacattttgggaggctgaggcagAgggattgcttgaggccaggagtttcagaccagcttgggcaacttagtgaAGAGGGAGACGGACGTCTCAATAAattcatgcgaagAGATCGAGACCCGACGC chr8:117839150-Reference-A;Patient-61 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative G atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg CAGCGTGATAGT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAcagcgtgatagtAGATCGAGACCCGACGC chr8:119094259-Alternative-G;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Reference T atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GTGTTGCGGCAT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgtgttgcggcatAGATCGAGACCCGACGC chr8:119094259-Reference-T;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative G atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GTGTCGGAGTCT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgtgtcggagtctAGATCGAGACCCGACGC chr8:119094259-Alternative-G;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative G atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg ATCCGAATCGAC CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAatccgaatcgacAGATCGAGACCCGACGC chr8:119094259-Alternative-G;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative G atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GGACTTAACGAC CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAggacttaacgacAGATCGAGACCCGACGC chr8:119094259-Alternative-G;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative G atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GCGATCTTCGAA CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagGgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgcgatcttcgaaAGATCGAGACCCGACGC chr8:119094259-Alternative-G;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Reference T atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg CGTCAGAAGCGT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAcgtcagaagcgtAGATCGAGACCCGACGC chr8:119094259-Reference-T;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Variant C atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg CGGATAGTCATA CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAcggatagtcataAGATCGAGACCCGACGC chr8:119094259-Variant-C;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Variant C atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg CATCAAGCATTC CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAcatcaagcattcAGATCGAGACCCGACGC chr8:119094259-Variant-C;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Variant C atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg ATTACGCACGAC CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAattacgcacgacAGATCGAGACCCGACGC chr8:119094259-Variant-C;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Reference T atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GGAATAAGGCTT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAggaataaggcttAGATCGAGACCCGACGC chr8:119094259-Reference-T;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Variant C atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GCGTGGTATGGT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgcgtggtatggtAGATCGAGACCCGACGC chr8:119094259-Variant-C;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Variant C atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GTGCTCATGCGA CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagCgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgtgctcatgcgaAGATCGAGACCCGACGC chr8:119094259-Variant-C;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative A atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GATGTACCTCTT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgatgtacctcttAGATCGAGACCCGACGC chr8:119094259-Alternative-A;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Reference T atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg ATCATGTGAGCT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAatcatgtgagctAGATCGAGACCCGACGC chr8:119094259-Reference-T;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Reference T atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg AGGCACGTCGTT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagTgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAaggcacgtcgttAGATCGAGACCCGACGC chr8:119094259-Reference-T;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative A atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GGTAGGAGCGTT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAggtaggagcgttAGATCGAGACCCGACGC chr8:119094259-Alternative-A;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative A atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GGAGTACACGGT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAggagtacacggtAGATCGAGACCCGACGC chr8:119094259-Alternative-A;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative A atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GTGGCAATCTGG CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAgtggcaatctggAGATCGAGACCCGACGC chr8:119094259-Alternative-A;Patient-55 chr8:119094259-TC DeNovo Patient-55 intronic EXT1 NA 4.95e-05 0 2.69 0.24 EXT1 29798 Alternative A atttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatgggg GGCACGTAAGGT CGACGCGGTCTCTCTCTatttaactgctgggggaaacaagagtcggggagttcttgtaaaagaggagAgtgattaacagtataaaaacgatcaagtcctgcggccacaatcatggggAGAGGGAGACGGACGTCTCAATAAggcacgtaaggtAGATCGAGACCCGACGC chr8:119094259-Alternative-A;Patient-55 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative A attactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GGACAGTTAGCG CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAggacagttagcgAGATCGAGACCCGACGC chr8:119877384-Alternative-A;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative A attactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac ACATAGTGCGAA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAacatagtgcgaaAGATCGAGACCCGACGC chr8:119877384-Alternative-A;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Reference C attactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac ACGAGATACGAT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAacgagatacgatAGATCGAGACCCGACGC chr8:119877384-Reference-C;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Reference C attactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CTGAGGTGGTCT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAActgaggtggtctAGATCGAGACCCGACGC chr8:119877384-Reference-C;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative A attactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CGTAGTCGTGCA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAcgtagtcgtgcaAGATCGAGACCCGACGC chr8:119877384-Alternative-A;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Reference C attactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GACCTTACAACA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAgaccttacaacaAGATCGAGACCCGACGC chr8:119877384-Reference-C;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative T attactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CTGTGCCGATGT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAActgtgccgatgtAGATCGAGACCCGACGC chr8:119877384-Alternative-T;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative A attactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac AGCCAATCTGCG CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAagccaatctgcgAGATCGAGACCCGACGC chr8:119877384-Alternative-A;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative T attactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac AGTGTACTACCA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAagtgtactaccaAGATCGAGACCCGACGC chr8:119877384-Alternative-T;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative T attactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CGCATGAAGTCA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAcgcatgaagtcaAGATCGAGACCCGACGC chr8:119877384-Alternative-T;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Reference C attactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CAATGGAATGCA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAcaatggaatgcaAGATCGAGACCCGACGC chr8:119877384-Reference-C;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Reference C attactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GATGCCGTTCGT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataCtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAgatgccgttcgtAGATCGAGACCCGACGC chr8:119877384-Reference-C;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative T attactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac ACTGCTCGGAGA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAactgctcggagaAGATCGAGACCCGACGC chr8:119877384-Alternative-T;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative A attactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac AACACACGGTAA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataAtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAaacacacggtaaAGATCGAGACCCGACGC chr8:119877384-Alternative-A;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Alternative T attactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GACCATGCGATA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataTtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAgaccatgcgataAGATCGAGACCCGACGC chr8:119877384-Alternative-T;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Variant G attactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GGTGTTAGCGAG CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAggtgttagcgagAGATCGAGACCCGACGC chr8:119877384-Variant-G;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Variant G attactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GGATAAGGTGTT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAggataaggtgttAGATCGAGACCCGACGC chr8:119877384-Variant-G;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Variant G attactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac GCACGCTGTGAT CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAgcacgctgtgatAGATCGAGACCCGACGC chr8:119877384-Variant-G;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Variant G attactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac ACGACACTTCGC CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAAacgacacttcgcAGATCGAGACCCGACGC chr8:119877384-Variant-G;Patient-88 chr8:119877384-CG DeNovo Patient-88 intergenic NA 0.000513 0.05 3.42 2.49 TNFRSF11B 86998 Variant G attactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggac CTGTCGTCGAGA CGACGCGGTCTCTCTCTattactgatcattctttgacagtagtgataatgttgtggcaacttgtataGtgagtaaaatagcactatgaactttccttagcataggtcacgaaaggacAGAGGGAGACGGACGTCTCAATAActgtcgtcgagaAGATCGAGACCCGACGC chr8:119877384-Variant-G;Patient-88 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative C gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagt GGTTCATTACGA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAggttcattacgaAGATCGAGACCCGACGC chr8:119986608-Alternative-C;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative C gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTATAGTGGCAA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtatagtggcaaAGATCGAGACCCGACGC chr8:119986608-Alternative-C;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative C gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTCGCCTTAGGT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtcgccttaggtAGATCGAGACCCGACGC chr8:119986608-Alternative-C;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Reference G gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagt GGAGATTCGCAG CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAggagattcgcagAGATCGAGACCCGACGC chr8:119986608-Reference-G;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative C gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTGCCGGTTGTT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtgccggttgttAGATCGAGACCCGACGC chr8:119986608-Alternative-C;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Reference G gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTCGTTGTGATA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtcgttgtgataAGATCGAGACCCGACGC chr8:119986608-Reference-G;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Reference G gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagt ATTCGGAGGTAA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAattcggaggtaaAGATCGAGACCCGACGC chr8:119986608-Reference-G;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative T gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagt AAGTAAGCGGAA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAaagtaagcggaaAGATCGAGACCCGACGC chr8:119986608-Alternative-T;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Reference G gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagt AGCACGCTGCAT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAagcacgctgcatAGATCGAGACCCGACGC chr8:119986608-Reference-G;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative T gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagt GCCGTCTGTATC CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgccgtctgtatcAGATCGAGACCCGACGC chr8:119986608-Alternative-T;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Reference G gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTAGATCGCATA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctGatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtagatcgcataAGATCGAGACCCGACGC chr8:119986608-Reference-G;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative T gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagt CGCTATGGTACG CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAcgctatggtacgAGATCGAGACCCGACGC chr8:119986608-Alternative-T;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative T gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagt ATAGCGAGCGAC CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAatagcgagcgacAGATCGAGACCCGACGC chr8:119986608-Alternative-T;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Variant A gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagt AATGTCCGACCT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAaatgtccgacctAGATCGAGACCCGACGC chr8:119986608-Variant-A;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative T gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagt ATCGTACGCGCT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctTatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAatcgtacgcgctAGATCGAGACCCGACGC chr8:119986608-Alternative-T;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Variant A gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagt GCGTACCAACCT CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgcgtaccaacctAGATCGAGACCCGACGC chr8:119986608-Variant-A;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Alternative C gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagt ATAATCTCAGCG CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctCatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAataatctcagcgAGATCGAGACCCGACGC chr8:119986608-Alternative-C;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Variant A gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagt GGAACCTTACGA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAggaaccttacgaAGATCGAGACCCGACGC chr8:119986608-Variant-A;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Variant A gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagt ATCCTCGGATAA CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAatcctcggataaAGATCGAGACCCGACGC chr8:119986608-Variant-A;Patient-91 chr8:119986608-GA Inherited Patient-91 intergenic NA 0.000513 0.26 6.67 0.18 TNFRSF11B 22224 Variant A gtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagt GTGTCTAACGGC CGACGCGGTCTCTCTCTgtatgataagagaaatgtaagcacttaagaagtagaaaaaggggagtgctAatttattctaataattatactgtaatcattcaaaagggtataccaaagtAGAGGGAGACGGACGTCTCAATAAgtgtctaacggcAGATCGAGACCCGACGC chr8:119986608-Variant-A;Patient-91 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative C atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagc GCGAAGACTACC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAgcgaagactaccAGATCGAGACCCGACGC chr8:120425857-Alternative-C;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative C atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagc CGCAATAGATCG CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAcgcaatagatcgAGATCGAGACCCGACGC chr8:120425857-Alternative-C;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative C atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagc CATGAATGGCCG CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAcatgaatggccgAGATCGAGACCCGACGC chr8:120425857-Alternative-C;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Variant A atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagc CTTGCTTCGCGT CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAActtgcttcgcgtAGATCGAGACCCGACGC chr8:120425857-Variant-A;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Variant A atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagc CTAGAAGCGGAG CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAActagaagcggagAGATCGAGACCCGACGC chr8:120425857-Variant-A;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Variant A atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagc AAGCACGGCCAA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAaagcacggccaaAGATCGAGACCCGACGC chr8:120425857-Variant-A;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Variant A atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagc ATCCGCCGTGAA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAatccgccgtgaaAGATCGAGACCCGACGC chr8:120425857-Variant-A;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Variant A atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagc GCAAGTTATTCG CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatAgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAgcaagttattcgAGATCGAGACCCGACGC chr8:120425857-Variant-A;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative T atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagc AATAGCTGACCT CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAaatagctgacctAGATCGAGACCCGACGC chr8:120425857-Alternative-T;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative T atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagc CGACGCTATGGT CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAcgacgctatggtAGATCGAGACCCGACGC chr8:120425857-Alternative-T;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative T atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagc CTCTAGCGACAG CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAActctagcgacagAGATCGAGACCCGACGC chr8:120425857-Alternative-T;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative T atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagc CTAATATACGGC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAActaatatacggcAGATCGAGACCCGACGC chr8:120425857-Alternative-T;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative T atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagc AGCGGATGATTA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatTgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAagcggatgattaAGATCGAGACCCGACGC chr8:120425857-Alternative-T;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Reference G atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagc AGGTTAGGATAC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAaggttaggatacAGATCGAGACCCGACGC chr8:120425857-Reference-G;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Reference G atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagc AGCTGCGCATGA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAagctgcgcatgaAGATCGAGACCCGACGC chr8:120425857-Reference-G;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Reference G atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagc ACTCTTACCTGA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAactcttacctgaAGATCGAGACCCGACGC chr8:120425857-Reference-G;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Reference G atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagc CGTTCCATTCAA CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAcgttccattcaaAGATCGAGACCCGACGC chr8:120425857-Reference-G;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Reference G atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagc AACGGTGTAACC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatGgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAaacggtgtaaccAGATCGAGACCCGACGC chr8:120425857-Reference-G;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative C atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagc GTGGCGTTGTTC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAgtggcgttgttcAGATCGAGACCCGACGC chr8:120425857-Alternative-C;Patient-30 chr8:120425857-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA NOV 2694 Alternative C atgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagc GATTGTGCGGAC CGACGCGGTCTCTCTCTatgaaatcacccaaggacacatttctccaacaatatccccatcattaaatCgtgtgactataatgattatccagtgagttatgagataaaagagataagcAGAGGGAGACGGACGTCTCAATAAgattgtgcggacAGATCGAGACCCGACGC chr8:120425857-Alternative-C;Patient-30 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Variant C ctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GGTATGCGGCTA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAggtatgcggctaAGATCGAGACCCGACGC chr8:120841452-Variant-C;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Variant C ctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa AGACCGACATAA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAagaccgacataaAGATCGAGACCCGACGC chr8:120841452-Variant-C;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative A ctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa ACAGACAACGTT CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAacagacaacgttAGATCGAGACCCGACGC chr8:120841452-Alternative-A;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative A ctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GTTAGGCCGTCA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAgttaggccgtcaAGATCGAGACCCGACGC chr8:120841452-Alternative-A;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Variant C ctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa ACTAACCGTAGA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAactaaccgtagaAGATCGAGACCCGACGC chr8:120841452-Variant-C;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative A ctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GCAGTGTCTGAC CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAgcagtgtctgacAGATCGAGACCCGACGC chr8:120841452-Alternative-A;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Variant C ctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CTCGTGACTACC CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAActcgtgactaccAGATCGAGACCCGACGC chr8:120841452-Variant-C;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Reference T ctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GTCATTCGATGT CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAgtcattcgatgtAGATCGAGACCCGACGC chr8:120841452-Reference-T;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative G ctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GCATCTGCAACG CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAgcatctgcaacgAGATCGAGACCCGACGC chr8:120841452-Alternative-G;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative A ctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CGGAGTGCTACA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAcggagtgctacaAGATCGAGACCCGACGC chr8:120841452-Alternative-A;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative G ctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GGTACCGGATCA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAggtaccggatcaAGATCGAGACCCGACGC chr8:120841452-Alternative-G;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative G ctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CGTCCATCTGAC CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAcgtccatctgacAGATCGAGACCCGACGC chr8:120841452-Alternative-G;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative G ctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CGCTCAACTAGA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAcgctcaactagaAGATCGAGACCCGACGC chr8:120841452-Alternative-G;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative G ctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa ACTTCCGATCAA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtGggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAacttccgatcaaAGATCGAGACCCGACGC chr8:120841452-Alternative-G;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Reference T ctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa AGCGTCTGGTGT CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAagcgtctggtgtAGATCGAGACCCGACGC chr8:120841452-Reference-T;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Reference T ctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa GTATATTCGTGG CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAgtatattcgtggAGATCGAGACCCGACGC chr8:120841452-Reference-T;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Reference T ctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CTAGAACGCCGA CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAActagaacgccgaAGATCGAGACCCGACGC chr8:120841452-Reference-T;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Alternative A ctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa ACCTACGCAACT CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtAggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAacctacgcaactAGATCGAGACCCGACGC chr8:120841452-Alternative-A;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Variant C ctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa AAGATGCGCGGT CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtCggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAaagatgcgcggtAGATCGAGACCCGACGC chr8:120841452-Variant-C;Patient-32 chr8:120841452-TC DeNovo Patient-32 intronic TAF2 NA 4.95e-05 0.21 5.97 1.79 TAF2 3650 Reference T ctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaa CGGAGTTCAACG CGACGCGGTCTCTCTCTctcaataccctacgagttgcattaactgggctctacccttctggctgggtTggtccaacagtttccacaaaaaggaaactggaaaacagaaggaaagcaaAGAGGGAGACGGACGTCTCAATAAcggagttcaacgAGATCGAGACCCGACGC chr8:120841452-Reference-T;Patient-32 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Variant A gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GGCCATGGAGAA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAggccatggagaaAGATCGAGACCCGACGC chr8:123960617-Variant-A;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative C gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GAGTGCTTGCGT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgagtgcttgcgtAGATCGAGACCCGACGC chr8:123960617-Alternative-C;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative C gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa AGGACGCTCTGT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAaggacgctctgtAGATCGAGACCCGACGC chr8:123960617-Alternative-C;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Variant A gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GCCTTAGGTAAG CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgccttaggtaagAGATCGAGACCCGACGC chr8:123960617-Variant-A;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative C gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa CGCTTCGCAAGA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAcgcttcgcaagaAGATCGAGACCCGACGC chr8:123960617-Alternative-C;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative C gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa ACTAGACTGTCA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAactagactgtcaAGATCGAGACCCGACGC chr8:123960617-Alternative-C;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Variant A gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa AGTCGTCGGTCA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAagtcgtcggtcaAGATCGAGACCCGACGC chr8:123960617-Variant-A;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Variant A gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GGAACTTAACGA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAggaacttaacgaAGATCGAGACCCGACGC chr8:123960617-Variant-A;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative T gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GGTCTTGAGCCA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAggtcttgagccaAGATCGAGACCCGACGC chr8:123960617-Alternative-T;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative C gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GCATCGGTAGCA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcCgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgcatcggtagcaAGATCGAGACCCGACGC chr8:123960617-Alternative-C;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative T gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa ACCGGAGAATAT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAaccggagaatatAGATCGAGACCCGACGC chr8:123960617-Alternative-T;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Variant A gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa AGCTAGGCTAAT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcAgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAagctaggctaatAGATCGAGACCCGACGC chr8:123960617-Variant-A;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Reference G gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GTGCGGAACATC CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgtgcggaacatcAGATCGAGACCCGACGC chr8:123960617-Reference-G;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Reference G gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GCAACTGGCATT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgcaactggcattAGATCGAGACCCGACGC chr8:123960617-Reference-G;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative T gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa CGAGATTCGCAC CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAcgagattcgcacAGATCGAGACCCGACGC chr8:123960617-Alternative-T;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative T gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa CTCTAGGCTGAG CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAActctaggctgagAGATCGAGACCCGACGC chr8:123960617-Alternative-T;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Reference G gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa ACTCCTAAGAGT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAactcctaagagtAGATCGAGACCCGACGC chr8:123960617-Reference-G;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Alternative T gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GTACGCCACGAT CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcTgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgtacgccacgatAGATCGAGACCCGACGC chr8:123960617-Alternative-T;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Reference G gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GGCGATAGTCGA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAggcgatagtcgaAGATCGAGACCCGACGC chr8:123960617-Reference-G;Patient-64 chr8:123960617-GA DeNovo Patient-64 intronic ZHX2 0.000128 0.00016 -0.25 0.51 -2.76 DERL1 94045 Reference G gcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaa GTTCGAAGGAGA CGACGCGGTCTCTCTCTgcttcaaaacatgtctcccacctcctttagcccatcagctctctattctcGgttctgggttctgttaacctaataagcaaattgttcctgtacttccaaaAGAGGGAGACGGACGTCTCAATAAgttcgaaggagaAGATCGAGACCCGACGC chr8:123960617-Reference-G;Patient-64 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Variant C atgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatga ACCTTAACGCTA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAaccttaacgctaAGATCGAGACCCGACGC chr8:124368048-Variant-C;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Reference T atgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatga GGTATGTCATGG CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAggtatgtcatggAGATCGAGACCCGACGC chr8:124368048-Reference-T;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative A atgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatga GATGCTATGGCG CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAgatgctatggcgAGATCGAGACCCGACGC chr8:124368048-Alternative-A;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative A atgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatga GGCTGAGAGCAT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAggctgagagcatAGATCGAGACCCGACGC chr8:124368048-Alternative-A;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Variant C atgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatga GGTTCACGTGGT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAggttcacgtggtAGATCGAGACCCGACGC chr8:124368048-Variant-C;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative A atgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CACGATAACGAA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcacgataacgaaAGATCGAGACCCGACGC chr8:124368048-Alternative-A;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Reference T atgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatga AGATCGTTACGA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAagatcgttacgaAGATCGAGACCCGACGC chr8:124368048-Reference-T;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Variant C atgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatga ATTAACGCGGAT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAattaacgcggatAGATCGAGACCCGACGC chr8:124368048-Variant-C;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative G atgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CGAACACGGCTA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcgaacacggctaAGATCGAGACCCGACGC chr8:124368048-Alternative-G;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative A atgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CGCGTAGCGATA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcgcgtagcgataAGATCGAGACCCGACGC chr8:124368048-Alternative-A;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Reference T atgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatga AATCATACGGAG CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAaatcatacggagAGATCGAGACCCGACGC chr8:124368048-Reference-T;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Variant C atgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CTTAGTACGACT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAActtagtacgactAGATCGAGACCCGACGC chr8:124368048-Variant-C;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative A atgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatga ATTACGCAACAC CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcAtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAattacgcaacacAGATCGAGACCCGACGC chr8:124368048-Alternative-A;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Reference T atgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CACGGACCTAGA CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcacggacctagaAGATCGAGACCCGACGC chr8:124368048-Reference-T;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative G atgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CTCGTCCTTGTC CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAActcgtccttgtcAGATCGAGACCCGACGC chr8:124368048-Alternative-G;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Variant C atgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatga GTTAGGCACCGT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcCtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAgttaggcaccgtAGATCGAGACCCGACGC chr8:124368048-Variant-C;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Reference T atgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CGTTAGGTGTCG CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcTtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcgttaggtgtcgAGATCGAGACCCGACGC chr8:124368048-Reference-T;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative G atgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatga CACTTACCACAT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAcacttaccacatAGATCGAGACCCGACGC chr8:124368048-Alternative-G;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative G atgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatga ACTGTCATCTAC CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAactgtcatctacAGATCGAGACCCGACGC chr8:124368048-Alternative-G;Patient-15 chr8:124368048-TC DeNovo Patient-15 intronic ATAD2 NA 3.92e-05 0.03 3.15 0.35 ATAD2 40656 Alternative G atgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatga AGTCTATAGCGT CGACGCGGTCTCTCTCTatgctcttgtgataggacattcagccacattccccaccatagccctcctcGtactagtggcttaacatcactgacccgcagacatttgtttctatcatgaAGAGGGAGACGGACGTCTCAATAAagtctatagcgtAGATCGAGACCCGACGC chr8:124368048-Alternative-G;Patient-15 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Variant T gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat CGCACTTGTCCT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAcgcacttgtcctAGATCGAGACCCGACGC chr8:124627799-Variant-T;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Reference G gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GGTTAGGACCGT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAggttaggaccgtAGATCGAGACCCGACGC chr8:124627799-Reference-G;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Reference G gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat CGTTGAGTATCA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAcgttgagtatcaAGATCGAGACCCGACGC chr8:124627799-Reference-G;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Variant T gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AACCGTAGGCGA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAaaccgtaggcgaAGATCGAGACCCGACGC chr8:124627799-Variant-T;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Variant T gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat ACCAAGTCATGT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAaccaagtcatgtAGATCGAGACCCGACGC chr8:124627799-Variant-T;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Variant T gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGCGGTATTGAT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAagcggtattgatAGATCGAGACCCGACGC chr8:124627799-Variant-T;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Reference G gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat CGGATCGACGAT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAcggatcgacgatAGATCGAGACCCGACGC chr8:124627799-Reference-G;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Variant T gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGCGTAATATCG CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggTccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAagcgtaatatcgAGATCGAGACCCGACGC chr8:124627799-Variant-T;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative A gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGGCGATCTGCA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAaggcgatctgcaAGATCGAGACCCGACGC chr8:124627799-Alternative-A;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Reference G gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGTTCATTAGCG CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAagttcattagcgAGATCGAGACCCGACGC chr8:124627799-Reference-G;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Reference G gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGACCTACCTAT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggGccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAagacctacctatAGATCGAGACCCGACGC chr8:124627799-Reference-G;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative A gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat AGTACACGATGT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAagtacacgatgtAGATCGAGACCCGACGC chr8:124627799-Alternative-A;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative A gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GGACAGATTCGG CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAggacagattcggAGATCGAGACCCGACGC chr8:124627799-Alternative-A;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative A gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GTAGGTAATTCG CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAgtaggtaattcgAGATCGAGACCCGACGC chr8:124627799-Alternative-A;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative A gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat CGATGCCGATAT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggAccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAcgatgccgatatAGATCGAGACCCGACGC chr8:124627799-Alternative-A;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative C gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat ACGCATACGTAT CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAacgcatacgtatAGATCGAGACCCGACGC chr8:124627799-Alternative-C;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative C gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GGTGCGACCATA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAggtgcgaccataAGATCGAGACCCGACGC chr8:124627799-Alternative-C;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative C gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GACGGTTCCGAA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAgacggttccgaaAGATCGAGACCCGACGC chr8:124627799-Alternative-C;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative C gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat GATTCCGACCTA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAAgattccgacctaAGATCGAGACCCGACGC chr8:124627799-Alternative-C;Patient-79 chr8:124627799-GT DeNovo Patient-79 intergenic 0.000319 0.00154 0.01 2.83 0.17 FBXO32 74305 Alternative C gtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgat CTAGGCTTCTAA CGACGCGGTCTCTCTCTgtcacccagacaggacactggaatattggcagcaaaccacaaagcagtggCccctgtaccatctggagactgtttttgtgaaccattgtctacacatgatAGAGGGAGACGGACGTCTCAATAActaggcttctaaAGATCGAGACCCGACGC chr8:124627799-Alternative-C;Patient-79 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Variant C acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGCTTATTCTAC CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgcttattctacAGATCGAGACCCGACGC chr8:126009625-Variant-C;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Variant C acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CAGTATATGTGC CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcagtatatgtgcAGATCGAGACCCGACGC chr8:126009625-Variant-C;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Variant C acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CACGTGCAGGTT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcacgtgcaggttAGATCGAGACCCGACGC chr8:126009625-Variant-C;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Variant C acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGCGTATTCAAT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgcgtattcaatAGATCGAGACCCGACGC chr8:126009625-Variant-C;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative G acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca GTTACACAGACA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAgttacacagacaAGATCGAGACCCGACGC chr8:126009625-Alternative-G;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative G acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca AAGCATCAACGA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAaagcatcaacgaAGATCGAGACCCGACGC chr8:126009625-Alternative-G;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative G acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca ACCGTGAATTGT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAaccgtgaattgtAGATCGAGACCCGACGC chr8:126009625-Alternative-G;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative T acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGACCAAGCCTT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgaccaagccttAGATCGAGACCCGACGC chr8:126009625-Alternative-T;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative T acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca ACGACGTGCGAA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAacgacgtgcgaaAGATCGAGACCCGACGC chr8:126009625-Alternative-T;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative G acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGTGCGTCTTGT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgtgcgtcttgtAGATCGAGACCCGACGC chr8:126009625-Alternative-G;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Variant C acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca AGTTGTTGCTGA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgCcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAagttgttgctgaAGATCGAGACCCGACGC chr8:126009625-Variant-C;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative T acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CAGCGGAACTTC CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcagcggaacttcAGATCGAGACCCGACGC chr8:126009625-Alternative-T;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative T acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CTCGCGTGAATA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAActcgcgtgaataAGATCGAGACCCGACGC chr8:126009625-Alternative-T;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative G acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca GTGCTTATAGGT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgGcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAgtgcttataggtAGATCGAGACCCGACGC chr8:126009625-Alternative-G;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Alternative T acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CAACTCTGGTAA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgTcttggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcaactctggtaaAGATCGAGACCCGACGC chr8:126009625-Alternative-T;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Reference A acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGCAACCTACTT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgcaacctacttAGATCGAGACCCGACGC chr8:126009625-Reference-A;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Reference A acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca GAGGTAGATCTA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAgaggtagatctaAGATCGAGACCCGACGC chr8:126009625-Reference-A;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Reference A acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca AAGTCGTCATGT CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAaagtcgtcatgtAGATCGAGACCCGACGC chr8:126009625-Reference-A;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Reference A acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca CGTTATCTCACA CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAcgttatctcacaAGATCGAGACCCGACGC chr8:126009625-Reference-A;Patient-69 chr8:126009625-AC DeNovo Patient-69 intergenic NA 0.000512821 0.08 3.97 -1.36 SQLE 1094 Reference A acagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagcca GGCTATTAATCG CGACGCGGTCTCTCTCTacagatctttagggaatctagagattaaaaagtatgaataaagttatgtgActtggtgaaggtcaatggcgatttggtggaagaggtgacaatgcagccaAGAGGGAGACGGACGTCTCAATAAggctattaatcgAGATCGAGACCCGACGC chr8:126009625-Reference-A;Patient-69 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative G tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GTTAACGCACGA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAgttaacgcacgaAGATCGAGACCCGACGC chr8:128415549-Alternative-G;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Variant T tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GTACGTTGTGCA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAgtacgttgtgcaAGATCGAGACCCGACGC chr8:128415549-Variant-T;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative G tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AGATTGCTGCAA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAagattgctgcaaAGATCGAGACCCGACGC chr8:128415549-Alternative-G;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Variant T tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GTGTCGTTGGCA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAgtgtcgttggcaAGATCGAGACCCGACGC chr8:128415549-Variant-T;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative G tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg CAGTCGTTAACA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAcagtcgttaacaAGATCGAGACCCGACGC chr8:128415549-Alternative-G;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative G tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GTGTCGTCATGG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAgtgtcgtcatggAGATCGAGACCCGACGC chr8:128415549-Alternative-G;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Variant T tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg CACATTAGGCTA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAcacattaggctaAGATCGAGACCCGACGC chr8:128415549-Variant-T;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative G tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AACAAGTAACCG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaGaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAaacaagtaaccgAGATCGAGACCCGACGC chr8:128415549-Alternative-G;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Variant T tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AGTCGTTCTCAT CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAagtcgttctcatAGATCGAGACCCGACGC chr8:128415549-Variant-T;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative A tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg CTGCTTCTTGCG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAActgcttcttgcgAGATCGAGACCCGACGC chr8:128415549-Alternative-A;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Variant T tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg ACTCCTACTACG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaTaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAactcctactacgAGATCGAGACCCGACGC chr8:128415549-Variant-T;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Reference C tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AAGGCTCGACGA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAaaggctcgacgaAGATCGAGACCCGACGC chr8:128415549-Reference-C;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Reference C tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GGCTCCGAGTTA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAggctccgagttaAGATCGAGACCCGACGC chr8:128415549-Reference-C;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative A tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AGTTCGCAATCA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAagttcgcaatcaAGATCGAGACCCGACGC chr8:128415549-Alternative-A;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative A tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg CAATGAGGCCGT CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAcaatgaggccgtAGATCGAGACCCGACGC chr8:128415549-Alternative-A;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative A tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AAGCGTTGGCGA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAaagcgttggcgaAGATCGAGACCCGACGC chr8:128415549-Alternative-A;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Reference C tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg ACGTCGCCTATC CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAacgtcgcctatcAGATCGAGACCCGACGC chr8:128415549-Reference-C;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Reference C tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg ATTATAAGGCCG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAattataaggccgAGATCGAGACCCGACGC chr8:128415549-Reference-C;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Reference C tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg AGGTTCATGTCA CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaCaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAaggttcatgtcaAGATCGAGACCCGACGC chr8:128415549-Reference-C;Patient-28 chr8:128415549-CT DeNovo Patient-28 intergenic 0.000319 0.000513 -0.04 2.05 -1.36 POU5F1B 12307 Alternative A tcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattg GTACGTACGGAG CGACGCGGTCTCTCTCTtcaaaggagtcaaataacagcctgaagtttatgtaggtggatcaaagaaaAaaggctagtctatgaatccaaatctggggtgccttctcctcttttattgAGAGGGAGACGGACGTCTCAATAAgtacgtacggagAGATCGAGACCCGACGC chr8:128415549-Alternative-A;Patient-28 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Reference G atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GAGTATCAGCGG CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgagtatcagcggAGATCGAGACCCGACGC chr8:12856451-Reference-G;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Reference G atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaa CTGAAGCCAACC CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAActgaagccaaccAGATCGAGACCCGACGC chr8:12856451-Reference-G;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Reference G atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GAATATACGTGG CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgaatatacgtggAGATCGAGACCCGACGC chr8:12856451-Reference-G;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative T atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaa AACAGGACGTGC CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAaacaggacgtgcAGATCGAGACCCGACGC chr8:12856451-Alternative-T;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Reference G atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaa AATAGCATACGG CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAaatagcatacggAGATCGAGACCCGACGC chr8:12856451-Reference-G;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative T atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GACGAACACGCA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgacgaacacgcaAGATCGAGACCCGACGC chr8:12856451-Alternative-T;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative T atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaa CACACGTGTGGT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAcacacgtgtggtAGATCGAGACCCGACGC chr8:12856451-Alternative-T;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative A atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaa CTTGGTACGTAA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAActtggtacgtaaAGATCGAGACCCGACGC chr8:12856451-Alternative-A;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Reference G atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaa CGAAGTGGCGTT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttGgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAcgaagtggcgttAGATCGAGACCCGACGC chr8:12856451-Reference-G;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative T atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaa ATAATGAGCGGT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAataatgagcggtAGATCGAGACCCGACGC chr8:12856451-Alternative-T;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative T atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GGTCTTATACGA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttTgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAggtcttatacgaAGATCGAGACCCGACGC chr8:12856451-Alternative-T;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative A atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GTACGGATCGAG CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgtacggatcgagAGATCGAGACCCGACGC chr8:12856451-Alternative-A;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Variant C atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaa AGCGCCGCAATA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAagcgccgcaataAGATCGAGACCCGACGC chr8:12856451-Variant-C;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Variant C atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GAATTACGGAGA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgaattacggagaAGATCGAGACCCGACGC chr8:12856451-Variant-C;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative A atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaa ACGTCAACGTCG CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAacgtcaacgtcgAGATCGAGACCCGACGC chr8:12856451-Alternative-A;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative A atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GTGACGTTGCGT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgtgacgttgcgtAGATCGAGACCCGACGC chr8:12856451-Alternative-A;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Variant C atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaa GTCGTGGAGACA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAgtcgtggagacaAGATCGAGACCCGACGC chr8:12856451-Variant-C;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Variant C atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaa AGTGGCGTAATT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAagtggcgtaattAGATCGAGACCCGACGC chr8:12856451-Variant-C;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Alternative A atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaa CAACGCGTGATT CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttAgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAcaacgcgtgattAGATCGAGACCCGACGC chr8:12856451-Alternative-A;Patient-87 chr8:12856451-GC Inherited Patient-87 intronic TRMT9B NA 4.95e-05 -0.03 2.26 1.68 TRMT9B 53267 Variant C atttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaa AATGCTCCTAGA CGACGCGGTCTCTCTCTatttgtcaacacatcaaatactcagagttgcctttgaaattgtggctgttCgatatatatgttaatgtccacctctctatccctgtttctttacccagaaAGAGGGAGACGGACGTCTCAATAAaatgctcctagaAGATCGAGACCCGACGC chr8:12856451-Variant-C;Patient-87 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Variant A ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca GGTCTTCGTCGT CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAggtcttcgtcgtAGATCGAGACCCGACGC chr8:132036420-Variant-A;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Variant A ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca GGCGAATAAGCG CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAggcgaataagcgAGATCGAGACCCGACGC chr8:132036420-Variant-A;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Variant A ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ATTGATCGACCA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAattgatcgaccaAGATCGAGACCCGACGC chr8:132036420-Variant-A;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative C ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ATAAGGCTGACA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAataaggctgacaAGATCGAGACCCGACGC chr8:132036420-Alternative-C;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Variant A ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca GTCGGCTGATAC CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAgtcggctgatacAGATCGAGACCCGACGC chr8:132036420-Variant-A;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Variant A ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ACTGTCATGTTC CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtAgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAactgtcatgttcAGATCGAGACCCGACGC chr8:132036420-Variant-A;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative C ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CACTTACTCGCA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcacttactcgcaAGATCGAGACCCGACGC chr8:132036420-Alternative-C;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative C ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CGATCTCAATCG CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcgatctcaatcgAGATCGAGACCCGACGC chr8:132036420-Alternative-C;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative C ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CGACGTCAATCA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcgacgtcaatcaAGATCGAGACCCGACGC chr8:132036420-Alternative-C;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative T ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ACGAAGTCAAGT CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAacgaagtcaagtAGATCGAGACCCGACGC chr8:132036420-Alternative-T;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative T ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca AAGCAAGGCGAT CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAaagcaaggcgatAGATCGAGACCCGACGC chr8:132036420-Alternative-T;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative T ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ACTCGGTCGGAT CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAactcggtcggatAGATCGAGACCCGACGC chr8:132036420-Alternative-T;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative T ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca AGATATAGCCGA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAagatatagccgaAGATCGAGACCCGACGC chr8:132036420-Alternative-T;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative C ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CAATGGTACAAG CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtCgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcaatggtacaagAGATCGAGACCCGACGC chr8:132036420-Alternative-C;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Reference G ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca GGTGAATGACTA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAggtgaatgactaAGATCGAGACCCGACGC chr8:132036420-Reference-G;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Alternative T ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ACTTCTCATCGA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtTgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAacttctcatcgaAGATCGAGACCCGACGC chr8:132036420-Alternative-T;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Reference G ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CGGCGTTGTCAA CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcggcgttgtcaaAGATCGAGACCCGACGC chr8:132036420-Reference-G;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Reference G ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca GCGCGCAAGATT CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAgcgcgcaagattAGATCGAGACCCGACGC chr8:132036420-Reference-G;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Reference G ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca ATATACACGTGC CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAatatacacgtgcAGATCGAGACCCGACGC chr8:132036420-Reference-G;Patient-39 chr8:132036420-GA DeNovo Patient-39 intronic ADCY8 NA 4.95e-05 -0.1 1.36 -2.86 ADCY8 16414 Reference G ccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagaca CAACCAGTGCAC CGACGCGGTCTCTCTCTccatttgtttcatccactgttcaggtgattcatgagtggagtcaccttgtGgaccactgtcgcgtgtttggcagtttcacgccaatgacagaacaagacaAGAGGGAGACGGACGTCTCAATAAcaaccagtgcacAGATCGAGACCCGACGC chr8:132036420-Reference-G;Patient-39 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Reference G ccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CTAGACGCAACC CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAActagacgcaaccAGATCGAGACCCGACGC chr8:132061089-Reference-G;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Reference G ccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CTGCGATATTCT CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAActgcgatattctAGATCGAGACCCGACGC chr8:132061089-Reference-G;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Reference G ccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CGTCGGAGTGAT CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAcgtcggagtgatAGATCGAGACCCGACGC chr8:132061089-Reference-G;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative T ccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CTCACGGTGAGT CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAActcacggtgagtAGATCGAGACCCGACGC chr8:132061089-Alternative-T;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Reference G ccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc ACGCAGTCGCAT CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAacgcagtcgcatAGATCGAGACCCGACGC chr8:132061089-Reference-G;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative T ccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc GCGTCAGCTAGA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAgcgtcagctagaAGATCGAGACCCGACGC chr8:132061089-Alternative-T;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Reference G ccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CGCCTCGCTTAA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccGggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAcgcctcgcttaaAGATCGAGACCCGACGC chr8:132061089-Reference-G;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative T ccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc GTTCCGCTCTGA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAgttccgctctgaAGATCGAGACCCGACGC chr8:132061089-Alternative-T;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative C ccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CAACGGACCTAA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAcaacggacctaaAGATCGAGACCCGACGC chr8:132061089-Alternative-C;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Variant A ccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc AGATGCGAACCG CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAagatgcgaaccgAGATCGAGACCCGACGC chr8:132061089-Variant-A;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative C ccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc ATATGCGAATCG CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAatatgcgaatcgAGATCGAGACCCGACGC chr8:132061089-Alternative-C;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative T ccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc ACCTGACCGCAT CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAacctgaccgcatAGATCGAGACCCGACGC chr8:132061089-Alternative-T;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Variant A ccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc ACAAGATCACGA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAacaagatcacgaAGATCGAGACCCGACGC chr8:132061089-Variant-A;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Variant A ccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc GCAATCATGCCA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAgcaatcatgccaAGATCGAGACCCGACGC chr8:132061089-Variant-A;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative C ccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CTGCTTGCACCA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAActgcttgcaccaAGATCGAGACCCGACGC chr8:132061089-Alternative-C;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Variant A ccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc ATTCGTCGGCGA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAattcgtcggcgaAGATCGAGACCCGACGC chr8:132061089-Variant-A;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative C ccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc AATCGACGAGCG CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAaatcgacgagcgAGATCGAGACCCGACGC chr8:132061089-Alternative-C;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative T ccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc AGAGTCATTCGA CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccTggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAagagtcattcgaAGATCGAGACCCGACGC chr8:132061089-Alternative-T;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Variant A ccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc AGCTTGGTAACG CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccAggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAagcttggtaacgAGATCGAGACCCGACGC chr8:132061089-Variant-A;Patient-75 chr8:132061089-GA DeNovo Patient-75 intergenic 6.4e-05 0.000512821 0.23 6.21 3 ADCY8 8253 Alternative C ccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagc CAAGATGAACCG CGACGCGGTCTCTCTCTccacatatatctcattggccagaactgtaacctatgcttacccttaagccCggtcctgaggcagccttcctagggatcaagagatctgataaaaagaagcAGAGGGAGACGGACGTCTCAATAAcaagatgaaccgAGATCGAGACCCGACGC chr8:132061089-Alternative-C;Patient-75 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative G atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CTGCTTCGTCCT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAActgcttcgtcctAGATCGAGACCCGACGC chr8:132085829-Alternative-G;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Reference T atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt GAGTACTTATCG CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAgagtacttatcgAGATCGAGACCCGACGC chr8:132085829-Reference-T;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative G atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt GAGTCAACGCGT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAgagtcaacgcgtAGATCGAGACCCGACGC chr8:132085829-Alternative-G;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Reference T atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CAGCTGTTAGCG CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAcagctgttagcgAGATCGAGACCCGACGC chr8:132085829-Reference-T;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Reference T atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AGTACGCTAGAT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAagtacgctagatAGATCGAGACCCGACGC chr8:132085829-Reference-T;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative G atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt GACGGTTACCAC CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAgacggttaccacAGATCGAGACCCGACGC chr8:132085829-Alternative-G;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Reference T atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CGATCATTCGTT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAcgatcattcgttAGATCGAGACCCGACGC chr8:132085829-Reference-T;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Reference T atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AATAGAGCTGAC CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggTgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAaatagagctgacAGATCGAGACCCGACGC chr8:132085829-Reference-T;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Variant A atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt GTAGTCGATATC CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAgtagtcgatatcAGATCGAGACCCGACGC chr8:132085829-Variant-A;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative G atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt GTTGATAGTAGG CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAgttgatagtaggAGATCGAGACCCGACGC chr8:132085829-Alternative-G;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Variant A atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AGCTGTTATCAG CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAagctgttatcagAGATCGAGACCCGACGC chr8:132085829-Variant-A;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Variant A atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CGCATCGTGCAT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAcgcatcgtgcatAGATCGAGACCCGACGC chr8:132085829-Variant-A;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative C atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CTTAGCCGCTGT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAActtagccgctgtAGATCGAGACCCGACGC chr8:132085829-Alternative-C;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative G atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt ACGATTAGGTTC CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggGgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAacgattaggttcAGATCGAGACCCGACGC chr8:132085829-Alternative-G;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Variant A atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CTGCGTGTGACA CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAActgcgtgtgacaAGATCGAGACCCGACGC chr8:132085829-Variant-A;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Variant A atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AGATTCGTCGAC CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggAgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAagattcgtcgacAGATCGAGACCCGACGC chr8:132085829-Variant-A;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative C atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CGATGCTGACGT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAcgatgctgacgtAGATCGAGACCCGACGC chr8:132085829-Alternative-C;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative C atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AGGACATTGAGA CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAaggacattgagaAGATCGAGACCCGACGC chr8:132085829-Alternative-C;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative C atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt AGGCGGTGTTGT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAaggcggtgttgtAGATCGAGACCCGACGC chr8:132085829-Alternative-C;Patient-28 chr8:132085829-TA DeNovo Patient-28 intergenic NA 0.000513 -0.14 1.08 -1.48 ADCY8 32993 Alternative C atgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgt CGTTCATGTTGT CGACGCGGTCTCTCTCTatgtctcctggtgaggaatttgactgtgaaaatggcttggacaaaatgggCgactgatgggtagggtgggctcttgtgggtatggccagctctcagttgtAGAGGGAGACGGACGTCTCAATAAcgttcatgttgtAGATCGAGACCCGACGC chr8:132085829-Alternative-C;Patient-28 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Reference C ttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaa AGGAATGCAAGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAaggaatgcaagtAGATCGAGACCCGACGC chr8:134649948-Reference-C;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Reference C ttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaa ATATGATAGCGG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAatatgatagcggAGATCGAGACCCGACGC chr8:134649948-Reference-C;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Reference C ttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GCGAAGACCGAT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgcgaagaccgatAGATCGAGACCCGACGC chr8:134649948-Reference-C;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Reference C ttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GGAATGCAATGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAggaatgcaatgtAGATCGAGACCCGACGC chr8:134649948-Reference-C;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Reference C ttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GTTGGTGAACGG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaCctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgttggtgaacggAGATCGAGACCCGACGC chr8:134649948-Reference-C;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative G ttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaa ACGCCTATCTGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAacgcctatctgtAGATCGAGACCCGACGC chr8:134649948-Alternative-G;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Variant T ttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GCAGACGAGAAG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgcagacgagaagAGATCGAGACCCGACGC chr8:134649948-Variant-T;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative A ttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaa CGATTAAGCTGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAcgattaagctgtAGATCGAGACCCGACGC chr8:134649948-Alternative-A;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative A ttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaa AGATAGGCTGAC CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAagataggctgacAGATCGAGACCCGACGC chr8:134649948-Alternative-A;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Variant T ttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaa AGGCTGTGATAA CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAaggctgtgataaAGATCGAGACCCGACGC chr8:134649948-Variant-T;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative A ttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaa GATTGACAGCGG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgattgacagcggAGATCGAGACCCGACGC chr8:134649948-Alternative-A;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative A ttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaa ACGCGGAGTGTT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAacgcggagtgttAGATCGAGACCCGACGC chr8:134649948-Alternative-A;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Variant T ttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaa CATATGCCGTGG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAcatatgccgtggAGATCGAGACCCGACGC chr8:134649948-Variant-T;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Variant T ttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GTGTCGCAGTGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgtgtcgcagtgtAGATCGAGACCCGACGC chr8:134649948-Variant-T;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative G ttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaa CTAAGTCAAGCT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAActaagtcaagctAGATCGAGACCCGACGC chr8:134649948-Alternative-G;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Variant T ttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GGTTCGTGGTGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaTctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAggttcgtggtgtAGATCGAGACCCGACGC chr8:134649948-Variant-T;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative G ttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaa GATTCACTGGCG CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgattcactggcgAGATCGAGACCCGACGC chr8:134649948-Alternative-G;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative A ttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaa GTGAGCGCGTAT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaActgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAgtgagcgcgtatAGATCGAGACCCGACGC chr8:134649948-Alternative-A;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative G ttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaa CAGCGCGCTATT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAcagcgcgctattAGATCGAGACCCGACGC chr8:134649948-Alternative-G;Patient-104 chr8:134649948-CT DeNovo Patient-104 intergenic NA 3.91e-05 0.11 4.46 0.9 ST3GAL1 65764 Alternative G ttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaa ACACGAGGTGGT CGACGCGGTCTCTCTCTttgtggatccccatggactggcctacagcagaggttctacaggagcactaGctgttcccctggggacttatatcctaagaacaactggtattttaaacaaAGAGGGAGACGGACGTCTCAATAAacacgaggtggtAGATCGAGACCCGACGC chr8:134649948-Alternative-G;Patient-104 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Reference G gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGGCTCATATAA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcggctcatataaAGATCGAGACCCGACGC chr8:1398146-Reference-G;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative A gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GTCAAGACTACC CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgtcaagactaccAGATCGAGACCCGACGC chr8:1398146-Alternative-A;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative A gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GATCGGCTTGAC CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgatcggcttgacAGATCGAGACCCGACGC chr8:1398146-Alternative-A;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative A gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag AACAGCTGACTT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAaacagctgacttAGATCGAGACCCGACGC chr8:1398146-Alternative-A;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Reference G gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGTCTATCAGTT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcgtctatcagttAGATCGAGACCCGACGC chr8:1398146-Reference-G;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Variant C gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag AATGCGAAGCAT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAaatgcgaagcatAGATCGAGACCCGACGC chr8:1398146-Variant-C;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative A gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CAGTCGTTCGTC CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcagtcgttcgtcAGATCGAGACCCGACGC chr8:1398146-Alternative-A;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Variant C gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GAATCGGAATGA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgaatcggaatgaAGATCGAGACCCGACGC chr8:1398146-Variant-C;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Variant C gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag AACTCTTCGCGG CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAaactcttcgcggAGATCGAGACCCGACGC chr8:1398146-Variant-C;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Variant C gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGTTAGAGTACA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcgttagagtacaAGATCGAGACCCGACGC chr8:1398146-Variant-C;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Reference G gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CTTATTCCGGAA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAActtattccggaaAGATCGAGACCCGACGC chr8:1398146-Reference-G;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Reference G gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GAGCATGCGAAG CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgagcatgcgaagAGATCGAGACCCGACGC chr8:1398146-Reference-G;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Variant C gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag AGGTAGGCGATA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactCaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAaggtaggcgataAGATCGAGACCCGACGC chr8:1398146-Variant-C;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Reference G gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGCAGATTGTCG CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactGaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcgcagattgtcgAGATCGAGACCCGACGC chr8:1398146-Reference-G;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative T gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GCGAGTTGACGA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgcgagttgacgaAGATCGAGACCCGACGC chr8:1398146-Alternative-T;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative T gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGGTGGTAGCAT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcggtggtagcatAGATCGAGACCCGACGC chr8:1398146-Alternative-T;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative T gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag GAGCCTATTAAG CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAgagcctattaagAGATCGAGACCCGACGC chr8:1398146-Alternative-T;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative A gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CGTTGGACTCGA CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactAaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAcgttggactcgaAGATCGAGACCCGACGC chr8:1398146-Alternative-A;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative T gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag CTTGCATTGAGT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAActtgcattgagtAGATCGAGACCCGACGC chr8:1398146-Alternative-T;Patient-53 chr8:1398146-GC DeNovo Patient-53 intergenic 0.000119 0.000188 -0.12 1.2 0.63 DLGAP2 51385 Alternative T gctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgag ATTGTCCGTTGT CGACGCGGTCTCTCTCTgctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactTaggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagAGAGGGAGACGGACGTCTCAATAAattgtccgttgtAGATCGAGACCCGACGC chr8:1398146-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Reference A ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg CGAACCGATAGT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAcgaaccgatagtAGATCGAGACCCGACGC chr8:1398147-Reference-A;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Reference A ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GTCGAAGTTATC CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgtcgaagttatcAGATCGAGACCCGACGC chr8:1398147-Reference-A;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative C ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg ATTCCATCGGAA CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAattccatcggaaAGATCGAGACCCGACGC chr8:1398147-Alternative-C;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative C ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GCCGTAGCGTAA CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgccgtagcgtaaAGATCGAGACCCGACGC chr8:1398147-Alternative-C;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Variant G ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg ATACGCTCGCGT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAatacgctcgcgtAGATCGAGACCCGACGC chr8:1398147-Variant-G;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative C ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GCGCTGCATTGA CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgcgctgcattgaAGATCGAGACCCGACGC chr8:1398147-Alternative-C;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Variant G ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg CGAATCGTACAG CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAcgaatcgtacagAGATCGAGACCCGACGC chr8:1398147-Variant-G;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Variant G ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GTGATACCGCGA CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgtgataccgcgaAGATCGAGACCCGACGC chr8:1398147-Variant-G;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Variant G ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GACATTGAGAAG CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgacattgagaagAGATCGAGACCCGACGC chr8:1398147-Variant-G;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative T ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg CTAATTGGACAC CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAActaattggacacAGATCGAGACCCGACGC chr8:1398147-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative C ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GCATTCGTGAAT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgcattcgtgaatAGATCGAGACCCGACGC chr8:1398147-Alternative-C;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative T ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg AAGCAGTGTAAC CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAaagcagtgtaacAGATCGAGACCCGACGC chr8:1398147-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Reference A ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GTCGAGCATCGT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgtcgagcatcgtAGATCGAGACCCGACGC chr8:1398147-Reference-A;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Variant G ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg AATCGCGCGCTT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgGggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAaatcgcgcgcttAGATCGAGACCCGACGC chr8:1398147-Variant-G;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative T ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg AATAGTGCCGGC CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAaatagtgccggcAGATCGAGACCCGACGC chr8:1398147-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative T ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg CGATCATAGTGG CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAcgatcatagtggAGATCGAGACCCGACGC chr8:1398147-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Reference A ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GAGAGCGATTGC CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgagagcgattgcAGATCGAGACCCGACGC chr8:1398147-Reference-A;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Reference A ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GGTCGTGATTAT CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgAggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAggtcgtgattatAGATCGAGACCCGACGC chr8:1398147-Reference-A;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative T ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg AGATAACACGCA CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgTggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAagataacacgcaAGATCGAGACCCGACGC chr8:1398147-Alternative-T;Patient-53 chr8:1398147-AG DeNovo Patient-53 intergenic 0.000191 0.000125628 -0.41 0.17 -1.26 DLGAP2 51384 Alternative C ctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgagg GTGCGGTCTAAG CGACGCGGTCTCTCTCTctgaggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgCggcggagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggAGAGGGAGACGGACGTCTCAATAAgtgcggtctaagAGATCGAGACCCGACGC chr8:1398147-Alternative-C;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Reference G ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga AGGTTCTGGTTA CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAaggttctggttaAGATCGAGACCCGACGC chr8:1398151-Reference-G;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Reference G ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GACGCATAGTGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgacgcatagtgtAGATCGAGACCCGACGC chr8:1398151-Reference-G;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Reference G ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga ACCAACTAACCT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAaccaactaacctAGATCGAGACCCGACGC chr8:1398151-Reference-G;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Reference G ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GACGTCCTATGG CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgacgtcctatggAGATCGAGACCCGACGC chr8:1398151-Reference-G;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Reference G ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GATACGATTCAC CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcGgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgatacgattcacAGATCGAGACCCGACGC chr8:1398151-Reference-G;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative C ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GTAGCGAGGTGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgtagcgaggtgtAGATCGAGACCCGACGC chr8:1398151-Alternative-C;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative T ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga CGATGACCGAAC CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAcgatgaccgaacAGATCGAGACCCGACGC chr8:1398151-Alternative-T;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative T ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga AAGCGTCGTCGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAaagcgtcgtcgtAGATCGAGACCCGACGC chr8:1398151-Alternative-T;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative T ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga CAACGGAACGGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAcaacggaacggtAGATCGAGACCCGACGC chr8:1398151-Alternative-T;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Variant A ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga AGCAGCGGCTAT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAagcagcggctatAGATCGAGACCCGACGC chr8:1398151-Variant-A;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Variant A ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GATCGCGGATCA CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgatcgcggatcaAGATCGAGACCCGACGC chr8:1398151-Variant-A;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Variant A ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GTAGCTCGTAAT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgtagctcgtaatAGATCGAGACCCGACGC chr8:1398151-Variant-A;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Variant A ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga CTACGACAGGAC CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAActacgacaggacAGATCGAGACCCGACGC chr8:1398151-Variant-A;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative C ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga CTTGCGGTATGC CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAActtgcggtatgcAGATCGAGACCCGACGC chr8:1398151-Alternative-C;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative C ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga AATCTATGGTCG CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAaatctatggtcgAGATCGAGACCCGACGC chr8:1398151-Alternative-C;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative C ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga ACCATGCGTCAC CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAaccatgcgtcacAGATCGAGACCCGACGC chr8:1398151-Alternative-C;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Variant A ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GATTGTGTACGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcAgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgattgtgtacgtAGATCGAGACCCGACGC chr8:1398151-Variant-A;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative T ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GGTTCGGTAAGG CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAggttcggtaaggAGATCGAGACCCGACGC chr8:1398151-Alternative-T;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative T ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GCGAATTGGCGT CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcTgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgcgaattggcgtAGATCGAGACCCGACGC chr8:1398151-Alternative-T;Patient-53 chr8:1398151-GA DeNovo Patient-53 intergenic 0.000283 6.28e-05 -0.75 0.01 -1.26 DLGAP2 51380 Alternative C ggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcgga GATCCTATATCG CGACGCGGTCTCTCTCTggcggagctgtgagggtgaagacgaggtgggcggcctcggtgactgaggcCgagctgtgagggtgaagacgaggtgggcggcttcggtggctgaggcggaAGAGGGAGACGGACGTCTCAATAAgatcctatatcgAGATCGAGACCCGACGC chr8:1398151-Alternative-C;Patient-53 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative C ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg AAGTACCGCGTC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAaagtaccgcgtcAGATCGAGACCCGACGC chr8:139949450-Alternative-C;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative C ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ATCCGGCTGACT CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAatccggctgactAGATCGAGACCCGACGC chr8:139949450-Alternative-C;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative C ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CAAGCCTTCTAT CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAcaagccttctatAGATCGAGACCCGACGC chr8:139949450-Alternative-C;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative C ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg AACCAACTAGCG CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAaaccaactagcgAGATCGAGACCCGACGC chr8:139949450-Alternative-C;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative C ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ATAACAGCACGA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcCgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAataacagcacgaAGATCGAGACCCGACGC chr8:139949450-Alternative-C;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative A ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CAACGATTAGTC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAcaacgattagtcAGATCGAGACCCGACGC chr8:139949450-Alternative-A;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative A ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CTCGGAAGGAAC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAActcggaaggaacAGATCGAGACCCGACGC chr8:139949450-Alternative-A;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative A ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg AAGGAGACAACA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAaaggagacaacaAGATCGAGACCCGACGC chr8:139949450-Alternative-A;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative A ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ATTCGTGGTAAC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAattcgtggtaacAGATCGAGACCCGACGC chr8:139949450-Alternative-A;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Reference T ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ACACGGTACTAT CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAacacggtactatAGATCGAGACCCGACGC chr8:139949450-Reference-T;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Variant G ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ACCAAGATATGG CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAaccaagatatggAGATCGAGACCCGACGC chr8:139949450-Variant-G;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Alternative A ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg ATCCGGTCCTGA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcAgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAatccggtcctgaAGATCGAGACCCGACGC chr8:139949450-Alternative-A;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Reference T ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg AGATGCGCGAGT CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAagatgcgcgagtAGATCGAGACCCGACGC chr8:139949450-Reference-T;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Reference T ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CGGAATCCGTGA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAcggaatccgtgaAGATCGAGACCCGACGC chr8:139949450-Reference-T;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Reference T ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg GCCTTATTCCTA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAgccttattcctaAGATCGAGACCCGACGC chr8:139949450-Reference-T;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Reference T ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg AGGTGGAGCGAA CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcTgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAaggtggagcgaaAGATCGAGACCCGACGC chr8:139949450-Reference-T;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Variant G ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg GTTAGAGCGTCC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAgttagagcgtccAGATCGAGACCCGACGC chr8:139949450-Variant-G;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Variant G ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg GCGTTAACTAAC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAgcgttaactaacAGATCGAGACCCGACGC chr8:139949450-Variant-G;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Variant G ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CATTGATGCTTC CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAAcattgatgcttcAGATCGAGACCCGACGC chr8:139949450-Variant-G;Patient-30 chr8:139949450-TG Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA COL22A1 23213 Variant G ctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactgg CTTATATCTGCG CGACGCGGTCTCTCTCTctatttgcttatctactacacagggacccagcaaggacatggcaaggggcGgttggaaccaacactgaagggttgtgtagagagggaaggggtacactggAGAGGGAGACGGACGTCTCAATAActtatatctgcgAGATCGAGACCCGACGC chr8:139949450-Variant-G;Patient-30 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative G catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc CGACTGGTCAAG CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAcgactggtcaagAGATCGAGACCCGACGC chr8:139950797-Alternative-G;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative G catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GGATGCACCACA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAggatgcaccacaAGATCGAGACCCGACGC chr8:139950797-Alternative-G;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative G catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc ACTCCAGTACGG CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAactccagtacggAGATCGAGACCCGACGC chr8:139950797-Alternative-G;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative G catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc ATACGGCGATAA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAatacggcgataaAGATCGAGACCCGACGC chr8:139950797-Alternative-G;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative G catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc CAAGTTAGCGCA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaGattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAcaagttagcgcaAGATCGAGACCCGACGC chr8:139950797-Alternative-G;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative T catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc AGGAAGTACGAA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAaggaagtacgaaAGATCGAGACCCGACGC chr8:139950797-Alternative-T;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative T catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc ATACCACGAACT CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAataccacgaactAGATCGAGACCCGACGC chr8:139950797-Alternative-T;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative T catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc ACAACACATTCG CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAacaacacattcgAGATCGAGACCCGACGC chr8:139950797-Alternative-T;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative T catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GTGTACTAAGTC CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAgtgtactaagtcAGATCGAGACCCGACGC chr8:139950797-Alternative-T;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Alternative T catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc ATACGCCGATCA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaTattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAatacgccgatcaAGATCGAGACCCGACGC chr8:139950797-Alternative-T;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Variant C catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GGCCGAATTAAT CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAggccgaattaatAGATCGAGACCCGACGC chr8:139950797-Variant-C;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Variant C catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc CATAGATGGTTC CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAcatagatggttcAGATCGAGACCCGACGC chr8:139950797-Variant-C;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Reference A catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GATCCGAACCGA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAgatccgaaccgaAGATCGAGACCCGACGC chr8:139950797-Reference-A;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Variant C catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GTAATGAGCGAT CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAgtaatgagcgatAGATCGAGACCCGACGC chr8:139950797-Variant-C;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Reference A catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GCAGGTCGTTGT CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAgcaggtcgttgtAGATCGAGACCCGACGC chr8:139950797-Reference-A;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Reference A catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc AGGAGATGACCA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAaggagatgaccaAGATCGAGACCCGACGC chr8:139950797-Reference-A;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Reference A catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GATGTTGGTACA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAgatgttggtacaAGATCGAGACCCGACGC chr8:139950797-Reference-A;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Reference A catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc CTGAAGATTCCT CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaAattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAActgaagattcctAGATCGAGACCCGACGC chr8:139950797-Reference-A;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Variant C catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc AATCGACCAACA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAaatcgaccaacaAGATCGAGACCCGACGC chr8:139950797-Variant-C;Patient-55 chr8:139950797-AC Inherited Patient-55 intergenic NA 0.000513 -0.08 1.58 0.12 COL22A1 24560 Variant C catttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgccc GGTGAACTGCGA CGACGCGGTCTCTCTCTcatttatgacatgagtgtattcatttatccaggaataaaactaaaacttaCattccaaaatcacctgtgaacccatcaatgtgatgactacttgctgcccAGAGGGAGACGGACGTCTCAATAAggtgaactgcgaAGATCGAGACCCGACGC chr8:139950797-Variant-C;Patient-55 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative C cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc AACGGTGGACAC CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAaacggtggacacAGATCGAGACCCGACGC chr8:139978924-Alternative-C;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative C cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc AATACGTTGTCG CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAaatacgttgtcgAGATCGAGACCCGACGC chr8:139978924-Alternative-C;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative C cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GCCTGAAGTACA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAgcctgaagtacaAGATCGAGACCCGACGC chr8:139978924-Alternative-C;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative A cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc ATTCGTGAGGAC CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAattcgtgaggacAGATCGAGACCCGACGC chr8:139978924-Alternative-A;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative A cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc CTCAACACGGCA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAActcaacacggcaAGATCGAGACCCGACGC chr8:139978924-Alternative-A;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Variant T cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc AGGCCGGTCTAA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAaggccggtctaaAGATCGAGACCCGACGC chr8:139978924-Variant-T;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative A cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GTTCGAGTGTCG CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAgttcgagtgtcgAGATCGAGACCCGACGC chr8:139978924-Alternative-A;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative C cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GGATAGACAGTT CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAggatagacagttAGATCGAGACCCGACGC chr8:139978924-Alternative-C;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Reference G cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc CGATATACTGAC CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAcgatatactgacAGATCGAGACCCGACGC chr8:139978924-Reference-G;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative A cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc ACACGACATGAA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAacacgacatgaaAGATCGAGACCCGACGC chr8:139978924-Alternative-A;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative A cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc CTAGACACTTCT CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggAtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAActagacacttctAGATCGAGACCCGACGC chr8:139978924-Alternative-A;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Alternative C cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GAATGGCTTGCG CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggCtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAgaatggcttgcgAGATCGAGACCCGACGC chr8:139978924-Alternative-C;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Reference G cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc AGTTAGCTAGCT CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAagttagctagctAGATCGAGACCCGACGC chr8:139978924-Reference-G;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Reference G cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GTAGTCGTGCAC CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAgtagtcgtgcacAGATCGAGACCCGACGC chr8:139978924-Reference-G;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Variant T cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GGCGGAGTATGT CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAggcggagtatgtAGATCGAGACCCGACGC chr8:139978924-Variant-T;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Reference G cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc CGGCGTTGTCTT CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAcggcgttgtcttAGATCGAGACCCGACGC chr8:139978924-Reference-G;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Reference G cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc CTGTGGATGACC CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggGtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAActgtggatgaccAGATCGAGACCCGACGC chr8:139978924-Reference-G;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Variant T cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc GCAACGTCGCTA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAgcaacgtcgctaAGATCGAGACCCGACGC chr8:139978924-Variant-T;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Variant T cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc AGGACGCATACG CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAaggacgcatacgAGATCGAGACCCGACGC chr8:139978924-Variant-T;Patient-53 chr8:139978924-GT DeNovo Patient-53 intergenic 0.000223 0.000513 -0.02 2.29 1.11 COL22A1 52687 Variant T cagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgcc ATAGCCGTACCA CGACGCGGTCTCTCTCTcagcaatgcttatgtcccaatcactttacagtttttaaagggggagaaggTtgggtgcatggagaaatggaacactaggtggtaagaggtgggggacgccAGAGGGAGACGGACGTCTCAATAAatagccgtaccaAGATCGAGACCCGACGC chr8:139978924-Variant-T;Patient-53 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Reference T caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg CAGCTCAGTGCA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAcagctcagtgcaAGATCGAGACCCGACGC chr8:141507785-Reference-T;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative A caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg ATCGCGTTGATA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAatcgcgttgataAGATCGAGACCCGACGC chr8:141507785-Alternative-A;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Reference T caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GGTGTCTCGGAT CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAggtgtctcggatAGATCGAGACCCGACGC chr8:141507785-Reference-T;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative G caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GTTAACGCCGAT CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgttaacgccgatAGATCGAGACCCGACGC chr8:141507785-Alternative-G;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Reference T caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GCGACTTATCGG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgcgacttatcggAGATCGAGACCCGACGC chr8:141507785-Reference-T;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative A caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg ACGGCTCCTGAA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAacggctcctgaaAGATCGAGACCCGACGC chr8:141507785-Alternative-A;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative G caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg CATTGAGGCTAA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAcattgaggctaaAGATCGAGACCCGACGC chr8:141507785-Alternative-G;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative G caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GATTGAACGGCG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgattgaacggcgAGATCGAGACCCGACGC chr8:141507785-Alternative-G;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Variant C caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg CTAACCAAGCGT CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAActaaccaagcgtAGATCGAGACCCGACGC chr8:141507785-Variant-C;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative A caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg AGAGTGTCGCAT CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAagagtgtcgcatAGATCGAGACCCGACGC chr8:141507785-Alternative-A;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Variant C caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GACGTTCACAAG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgacgttcacaagAGATCGAGACCCGACGC chr8:141507785-Variant-C;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative G caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg ATACTAGGCGAA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAatactaggcgaaAGATCGAGACCCGACGC chr8:141507785-Alternative-G;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Reference T caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GGAACTATATGG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAggaactatatggAGATCGAGACCCGACGC chr8:141507785-Reference-T;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Variant C caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GCGAGATCAGCA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgcgagatcagcaAGATCGAGACCCGACGC chr8:141507785-Variant-C;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Reference T caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg CTATCGGATGAT CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaTtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAActatcggatgatAGATCGAGACCCGACGC chr8:141507785-Reference-T;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative A caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GTAAGAGCATCA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgtaagagcatcaAGATCGAGACCCGACGC chr8:141507785-Alternative-A;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative A caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg AGATACCGCGAA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaAtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAagataccgcgaaAGATCGAGACCCGACGC chr8:141507785-Alternative-A;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Alternative G caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg CTCTTACTGGCG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaGtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAActcttactggcgAGATCGAGACCCGACGC chr8:141507785-Alternative-G;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Variant C caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg GTAGTACGAACG CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAgtagtacgaacgAGATCGAGACCCGACGC chr8:141507785-Variant-C;Patient-109 chr8:141507785-TC DeNovo Patient-109 intergenic 3.2e-05 3.84e-05 -0.17 0.9 0 CHRAC1 13611 Variant C caacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttg ACTCACGTGCGA CGACGCGGTCTCTCTCTcaacagtccccagagtgtgatgttccccttcctgtgtccatgtgttctcaCtgttcaattcccacctatgagtgagaatatgcggtgtttggtttttttgAGAGGGAGACGGACGTCTCAATAAactcacgtgcgaAGATCGAGACCCGACGC chr8:141507785-Variant-C;Patient-109 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative G ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CTCGCTGACATC CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAActcgctgacatcAGATCGAGACCCGACGC chr8:142019869-Alternative-G;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative G ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa AAGGAGATGCGC CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAaaggagatgcgcAGATCGAGACCCGACGC chr8:142019869-Alternative-G;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative G ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GTATCAACCAGT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgtatcaaccagtAGATCGAGACCCGACGC chr8:142019869-Alternative-G;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative G ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CAATTGCAGAGT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcaattgcagagtAGATCGAGACCCGACGC chr8:142019869-Alternative-G;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Reference C ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CGTCTATCAAGA CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcgtctatcaagaAGATCGAGACCCGACGC chr8:142019869-Reference-C;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative G ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CGTCGTTACGCT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggGgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcgtcgttacgctAGATCGAGACCCGACGC chr8:142019869-Alternative-G;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Variant T ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa ATTCACACGTAC CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAattcacacgtacAGATCGAGACCCGACGC chr8:142019869-Variant-T;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Reference C ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GTATTGATCGAC CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgtattgatcgacAGATCGAGACCCGACGC chr8:142019869-Reference-C;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Variant T ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CTTAGCTGTGAA CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAActtagctgtgaaAGATCGAGACCCGACGC chr8:142019869-Variant-T;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Variant T ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GTGTTAATAGCG CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgtgttaatagcgAGATCGAGACCCGACGC chr8:142019869-Variant-T;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Variant T ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GTACAGTGATGA CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgtacagtgatgaAGATCGAGACCCGACGC chr8:142019869-Variant-T;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Variant T ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GCGAACACGGAT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggTgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgcgaacacggatAGATCGAGACCCGACGC chr8:142019869-Variant-T;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Reference C ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa ACGCAATGTCTA CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAacgcaatgtctaAGATCGAGACCCGACGC chr8:142019869-Reference-C;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative A ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa ATTATGGAGCGT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAattatggagcgtAGATCGAGACCCGACGC chr8:142019869-Alternative-A;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative A ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CGTTCGTCGCAT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcgttcgtcgcatAGATCGAGACCCGACGC chr8:142019869-Alternative-A;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative A ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CGTTCACGTCGT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcgttcacgtcgtAGATCGAGACCCGACGC chr8:142019869-Alternative-A;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative A ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa AACACGGTACAT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAaacacggtacatAGATCGAGACCCGACGC chr8:142019869-Alternative-A;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Reference C ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa GTCGCGCAATGT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAgtcgcgcaatgtAGATCGAGACCCGACGC chr8:142019869-Reference-C;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Alternative A ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa CAACGGATCGTC CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggAgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAcaacggatcgtcAGATCGAGACCCGACGC chr8:142019869-Alternative-A;Patient-76 chr8:142019869-CT Inherited Patient-76 intergenic 6.4e-05 0.000512821 -0.18 0.83 0.05 PTK2 8456 Reference C ggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaa ACTACCGATTCT CGACGCGGTCTCTCTCTggcgggcgcctgtagtcccagccactcgggaggctgaggcaggagaatggCgtgaacctgggaggcggagcttgcagtgagccaaggttgcgccactgaaAGAGGGAGACGGACGTCTCAATAAactaccgattctAGATCGAGACCCGACGC chr8:142019869-Reference-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Variant A tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CGGATCATCGGT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcggatcatcggtAGATCGAGACCCGACGC chr8:142045934-Variant-A;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Variant A tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt AGCGGTTACCAC CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAagcggttaccacAGATCGAGACCCGACGC chr8:142045934-Variant-A;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Variant A tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CGAGTATAGCTA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcgagtatagctaAGATCGAGACCCGACGC chr8:142045934-Variant-A;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative C tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GTAATCCGTCTA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgtaatccgtctaAGATCGAGACCCGACGC chr8:142045934-Alternative-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative C tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CGCGTATGGAGT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcgcgtatggagtAGATCGAGACCCGACGC chr8:142045934-Alternative-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative C tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt AAGATGCGGTAT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAaagatgcggtatAGATCGAGACCCGACGC chr8:142045934-Alternative-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative C tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CAAGGTCGTGCT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcaaggtcgtgctAGATCGAGACCCGACGC chr8:142045934-Alternative-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative T tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CTCTCGCTTGCT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAActctcgcttgctAGATCGAGACCCGACGC chr8:142045934-Alternative-T;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Variant A tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CAACGTGACCGT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcaacgtgaccgtAGATCGAGACCCGACGC chr8:142045934-Variant-A;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Reference G tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GATTAGTGGCTT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgattagtggcttAGATCGAGACCCGACGC chr8:142045934-Reference-G;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Reference G tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CGGCTACAATTA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcggctacaattaAGATCGAGACCCGACGC chr8:142045934-Reference-G;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Reference G tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GTTCAATGGCAT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgttcaatggcatAGATCGAGACCCGACGC chr8:142045934-Reference-G;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Variant A tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CTTAGTTACGAG CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagAgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAActtagttacgagAGATCGAGACCCGACGC chr8:142045934-Variant-A;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative T tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt ACGATGACTATC CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAacgatgactatcAGATCGAGACCCGACGC chr8:142045934-Alternative-T;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative C tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GCCGATAGCAGA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagCgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgccgatagcagaAGATCGAGACCCGACGC chr8:142045934-Alternative-C;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative T tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GTGCTTATGAAC CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgtgcttatgaacAGATCGAGACCCGACGC chr8:142045934-Alternative-T;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative T tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CGTGCATTCCGT CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcgtgcattccgtAGATCGAGACCCGACGC chr8:142045934-Alternative-T;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Alternative T tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GAGTGTAGCTAA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagTgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgagtgtagctaaAGATCGAGACCCGACGC chr8:142045934-Alternative-T;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Reference G tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt GTACTTATCGAC CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAgtacttatcgacAGATCGAGACCCGACGC chr8:142045934-Reference-G;Patient-76 chr8:142045934-GA DeNovo Patient-76 intergenic NA 0.000512821 0.01 2.82 0.69 PTK2 34521 Reference G tatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgt CATTAGACGCTA CGACGCGGTCTCTCTCTtatttatgccccctttcccccgcctcgaagcatgagtctcttgagagcagGgagtatgtcccgtggcagagactcaatcatggagattggttggctgtgtAGAGGGAGACGGACGTCTCAATAAcattagacgctaAGATCGAGACCCGACGC chr8:142045934-Reference-G;Patient-76 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Variant G caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GAATGGCTGTAA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgaatggctgtaaAGATCGAGACCCGACGC chr8:143430118-Variant-G;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Variant G caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GCGGCCATTCAT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgcggccattcatAGATCGAGACCCGACGC chr8:143430118-Variant-G;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative A caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CGTCAATTGCGG CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAcgtcaattgcggAGATCGAGACCCGACGC chr8:143430118-Alternative-A;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative C caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GTACGTGTAGCG CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgtacgtgtagcgAGATCGAGACCCGACGC chr8:143430118-Alternative-C;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative C caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GGTGCGTTCGAA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAggtgcgttcgaaAGATCGAGACCCGACGC chr8:143430118-Alternative-C;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Variant G caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CGGAACTCTGCT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAcggaactctgctAGATCGAGACCCGACGC chr8:143430118-Variant-G;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Variant G caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CTCTCTTGATGA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAActctcttgatgaAGATCGAGACCCGACGC chr8:143430118-Variant-G;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Reference T caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc ATAGGAGTCACT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAataggagtcactAGATCGAGACCCGACGC chr8:143430118-Reference-T;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative A caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GGTTAACGTAAC CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAggttaacgtaacAGATCGAGACCCGACGC chr8:143430118-Alternative-A;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative A caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CTGAGATGATGA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAActgagatgatgaAGATCGAGACCCGACGC chr8:143430118-Alternative-A;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Variant G caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CGCTTATGAGCA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaGgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAcgcttatgagcaAGATCGAGACCCGACGC chr8:143430118-Variant-G;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Reference T caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GAGTCAAGCCGT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgagtcaagccgtAGATCGAGACCCGACGC chr8:143430118-Reference-T;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Reference T caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GTCTAGCGGCTA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgtctagcggctaAGATCGAGACCCGACGC chr8:143430118-Reference-T;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative C caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc ACAGCTGCGTAC CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAacagctgcgtacAGATCGAGACCCGACGC chr8:143430118-Alternative-C;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Reference T caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc AACGCATCTACC CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAaacgcatctaccAGATCGAGACCCGACGC chr8:143430118-Reference-T;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Reference T caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GTCGGACGAGAT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaTgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAgtcggacgagatAGATCGAGACCCGACGC chr8:143430118-Reference-T;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative A caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc CGTCCTGGATGA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAcgtcctggatgaAGATCGAGACCCGACGC chr8:143430118-Alternative-A;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative A caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc GGATGCAGATTA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaAgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAggatgcagattaAGATCGAGACCCGACGC chr8:143430118-Alternative-A;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative C caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc AGCAACGATCTT CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAagcaacgatcttAGATCGAGACCCGACGC chr8:143430118-Alternative-C;Patient-75 chr8:143430118-TG DeNovo Patient-75 intronic TSNARE1 3.2e-05 4.95e-05 -0.45 0.13 -1.46 TSNARE1 54424 Alternative C caggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagc ACCTTCGAGTAA CGACGCGGTCTCTCTCTcaggttatcgtgaggctgaccgctgctggtgcgctgaggagacagctacaCgtcctagctgtccacagagctggcccgtgtgcatggagctctggggagcAGAGGGAGACGGACGTCTCAATAAaccttcgagtaaAGATCGAGACCCGACGC chr8:143430118-Alternative-C;Patient-75 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Variant T ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CGGATCTTCATT CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAcggatcttcattAGATCGAGACCCGACGC chr8:143537153-Variant-T;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Reference C ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AGCTCGTACAAG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAagctcgtacaagAGATCGAGACCCGACGC chr8:143537153-Reference-C;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Reference C ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AGCAACCGGTCA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAagcaaccggtcaAGATCGAGACCCGACGC chr8:143537153-Reference-C;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Variant T ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GATCGAGCGTGA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAgatcgagcgtgaAGATCGAGACCCGACGC chr8:143537153-Variant-T;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Variant T ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GTTAGGCCATAA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAgttaggccataaAGATCGAGACCCGACGC chr8:143537153-Variant-T;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Variant T ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GTGGCTCGTCTA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAgtggctcgtctaAGATCGAGACCCGACGC chr8:143537153-Variant-T;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative A ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AACTACGTATGC CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAaactacgtatgcAGATCGAGACCCGACGC chr8:143537153-Alternative-A;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Reference C ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CGACCAAGAGCA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAcgaccaagagcaAGATCGAGACCCGACGC chr8:143537153-Reference-C;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative A ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GGTGTTCGATCG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAggtgttcgatcgAGATCGAGACCCGACGC chr8:143537153-Alternative-A;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Reference C ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc ATTCGTGTCTGT CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAattcgtgtctgtAGATCGAGACCCGACGC chr8:143537153-Reference-C;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative A ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CGCCACTAGTAA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAcgccactagtaaAGATCGAGACCCGACGC chr8:143537153-Alternative-A;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Reference C ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CAGTATGCGTAA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggCggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAcagtatgcgtaaAGATCGAGACCCGACGC chr8:143537153-Reference-C;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Variant T ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GCAACGGAGTCA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggTggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAgcaacggagtcaAGATCGAGACCCGACGC chr8:143537153-Variant-T;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative G ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AACTAGCCGCAG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAaactagccgcagAGATCGAGACCCGACGC chr8:143537153-Alternative-G;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative G ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CTGGTCTACACG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAActggtctacacgAGATCGAGACCCGACGC chr8:143537153-Alternative-G;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative G ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc CACACGCCAAGA CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAcacacgccaagaAGATCGAGACCCGACGC chr8:143537153-Alternative-G;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative A ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AGAGTAGATCGC CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAagagtagatcgcAGATCGAGACCCGACGC chr8:143537153-Alternative-A;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative G ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc AGCATGCACCAT CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAagcatgcaccatAGATCGAGACCCGACGC chr8:143537153-Alternative-G;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative A ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GCAGGTGTACAG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggAggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAgcaggtgtacagAGATCGAGACCCGACGC chr8:143537153-Alternative-A;Patient-22 chr8:143537153-CT Inherited Patient-22 intergenic 0.000159 0.000513 -0.5 0.09 -2.22 TSNARE1 52609 Alternative G ccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggccc GGTTGTACTAAG CGACGCGGTCTCTCTCTccaggaggctgagaagatggtgctggctgggcactggcctgggtgcaaggGggggaaggaggcttccaaagcccacaccccacccccgaccaccgggcccAGAGGGAGACGGACGTCTCAATAAggttgtactaagAGATCGAGACCCGACGC chr8:143537153-Alternative-G;Patient-22 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative C tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca ATCGCTTCTGAA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAatcgcttctgaaAGATCGAGACCCGACGC chr8:144195937-Alternative-C;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Reference T tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AAGTTCATGCGA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAaagttcatgcgaAGATCGAGACCCGACGC chr8:144195937-Reference-T;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Variant G tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AAGCATGTACGA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAaagcatgtacgaAGATCGAGACCCGACGC chr8:144195937-Variant-G;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Reference T tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca ACACGCGCAACA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAacacgcgcaacaAGATCGAGACCCGACGC chr8:144195937-Reference-T;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative C tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GTAATGACGGCG CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAgtaatgacggcgAGATCGAGACCCGACGC chr8:144195937-Alternative-C;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Variant G tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AGCATAGTGGAT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAagcatagtggatAGATCGAGACCCGACGC chr8:144195937-Variant-G;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Reference T tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca CAACGACGACAT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAcaacgacgacatAGATCGAGACCCGACGC chr8:144195937-Reference-T;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative A tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca CACGATAGCAGT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAcacgatagcagtAGATCGAGACCCGACGC chr8:144195937-Alternative-A;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative C tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AGCTAGCCTGAC CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAagctagcctgacAGATCGAGACCCGACGC chr8:144195937-Alternative-C;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative C tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AACTAATCGGAC CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAaactaatcggacAGATCGAGACCCGACGC chr8:144195937-Alternative-C;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Reference T tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca ATATGACCGGTT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAatatgaccggttAGATCGAGACCCGACGC chr8:144195937-Reference-T;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative A tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GCATTCCGGAAC CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAgcattccggaacAGATCGAGACCCGACGC chr8:144195937-Alternative-A;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative A tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GTAGGACGTACT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAgtaggacgtactAGATCGAGACCCGACGC chr8:144195937-Alternative-A;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative A tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca ACATCTACCGAT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAacatctaccgatAGATCGAGACCCGACGC chr8:144195937-Alternative-A;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Variant G tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GGAACGGCGATT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAggaacggcgattAGATCGAGACCCGACGC chr8:144195937-Variant-G;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Variant G tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AGCACGTTGCGT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAagcacgttgcgtAGATCGAGACCCGACGC chr8:144195937-Variant-G;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Reference T tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca AAGGTGGTCATA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaTatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAaaggtggtcataAGATCGAGACCCGACGC chr8:144195937-Reference-T;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative A tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GCGCGATTCCAT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaAatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAgcgcgattccatAGATCGAGACCCGACGC chr8:144195937-Alternative-A;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Variant G tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca GGACTCGCCTAA CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaGatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAggactcgcctaaAGATCGAGACCCGACGC chr8:144195937-Variant-G;Patient-89 chr8:144195937-TG DeNovo Patient-89 intergenic NA 0.000512821 0.03 3.08 0 GPIHBP1 99130 Alternative C tgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgcca ACGCCTGCGTAT CGACGCGGTCTCTCTCTtgccaaagtcaatctactagagcaatgcaaaaatagttataaaagtgagaCatttcgtggcaaagttttctcgaagtaaatgctgcagccacaagtgccaAGAGGGAGACGGACGTCTCAATAAacgcctgcgtatAGATCGAGACCCGACGC chr8:144195937-Alternative-C;Patient-89 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative T gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CTATGGTAGCGG CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAActatggtagcggAGATCGAGACCCGACGC chr8:144283585-Alternative-T;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative T gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CATAAGACCGAA CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcataagaccgaaAGATCGAGACCCGACGC chr8:144283585-Alternative-T;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative A gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GTCTAGTCTGTT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgtctagtctgttAGATCGAGACCCGACGC chr8:144283585-Alternative-A;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative T gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GTTGTGAGTATC CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgttgtgagtatcAGATCGAGACCCGACGC chr8:144283585-Alternative-T;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative T gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GTTAAGTCGTAC CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgttaagtcgtacAGATCGAGACCCGACGC chr8:144283585-Alternative-T;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative A gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGTTGTTCGATT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcgttgttcgattAGATCGAGACCCGACGC chr8:144283585-Alternative-A;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative A gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGGTCGGTGTAA CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcggtcggtgtaaAGATCGAGACCCGACGC chr8:144283585-Alternative-A;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Reference C gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa ACGGTAGCCATC CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAacggtagccatcAGATCGAGACCCGACGC chr8:144283585-Reference-C;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative A gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GCATAAGAGTCT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgcataagagtctAGATCGAGACCCGACGC chr8:144283585-Alternative-A;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative A gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GACGTTGTTAGT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccAagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgacgttgttagtAGATCGAGACCCGACGC chr8:144283585-Alternative-A;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Alternative T gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGCGGATGTTCT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccTagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcgcggatgttctAGATCGAGACCCGACGC chr8:144283585-Alternative-T;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Variant G gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGAACGTGTCGT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcgaacgtgtcgtAGATCGAGACCCGACGC chr8:144283585-Variant-G;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Reference C gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGGTCGTGTTGT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcggtcgtgttgtAGATCGAGACCCGACGC chr8:144283585-Reference-C;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Reference C gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CGGTACTTATGT CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcggtacttatgtAGATCGAGACCCGACGC chr8:144283585-Reference-C;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Variant G gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CTACGTGTGTGG CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAActacgtgtgtggAGATCGAGACCCGACGC chr8:144283585-Variant-G;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Reference C gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa ACGCCAATATCA CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAacgccaatatcaAGATCGAGACCCGACGC chr8:144283585-Reference-C;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Reference C gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa AGTTGGCGCGAA CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccCagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAagttggcgcgaaAGATCGAGACCCGACGC chr8:144283585-Reference-C;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Variant G gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa GCAGCATATATC CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAgcagcatatatcAGATCGAGACCCGACGC chr8:144283585-Variant-G;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Variant G gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CTAATCCGTCGC CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAActaatccgtcgcAGATCGAGACCCGACGC chr8:144283585-Variant-G;Patient-72 chr8:144283585-CG DeNovo Patient-72 intergenic 0.000255 0.001025641 -0.03 2.26 0.12 GPIHBP1 11482 Variant G gctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaa CAGCGAGATTAA CGACGCGGTCTCTCTCTgctacccaggcctccagcttacttctaactgcagtcagaacgtcatgcccGagggcacaaagcatattcaaacctgaaaggaggaggctacctggcaaaaAGAGGGAGACGGACGTCTCAATAAcagcgagattaaAGATCGAGACCCGACGC chr8:144283585-Variant-G;Patient-72 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative G cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GAATTGATTGCG CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgaattgattgcgAGATCGAGACCCGACGC chr8:144510436-Alternative-G;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative G cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CGTATGGCGCTT CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAcgtatggcgcttAGATCGAGACCCGACGC chr8:144510436-Alternative-G;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Reference C cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GCGAATGGTACG CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgcgaatggtacgAGATCGAGACCCGACGC chr8:144510436-Reference-C;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative G cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg AGGTGATCGACC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAaggtgatcgaccAGATCGAGACCCGACGC chr8:144510436-Alternative-G;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative G cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CTCTCGCCTATC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAActctcgcctatcAGATCGAGACCCGACGC chr8:144510436-Alternative-G;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative G cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg ATATTCCTCGAC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatGccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAatattcctcgacAGATCGAGACCCGACGC chr8:144510436-Alternative-G;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative T cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GGAACGGTGTAC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAggaacggtgtacAGATCGAGACCCGACGC chr8:144510436-Alternative-T;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative T cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CAGATTGATGCT CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAcagattgatgctAGATCGAGACCCGACGC chr8:144510436-Alternative-T;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative T cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CTTATGTCGTGT CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAActtatgtcgtgtAGATCGAGACCCGACGC chr8:144510436-Alternative-T;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative T cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CATGTGACTTCT CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAcatgtgacttctAGATCGAGACCCGACGC chr8:144510436-Alternative-T;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Reference C cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg ACGTCGTAGCCA CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAacgtcgtagccaAGATCGAGACCCGACGC chr8:144510436-Reference-C;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Reference C cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GTGTAGCTAACA CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgtgtagctaacaAGATCGAGACCCGACGC chr8:144510436-Reference-C;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Variant A cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GACGAGTCAACG CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgacgagtcaacgAGATCGAGACCCGACGC chr8:144510436-Variant-A;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Alternative T cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg AATAGCCGCTTA CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatTccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAaatagccgcttaAGATCGAGACCCGACGC chr8:144510436-Alternative-T;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Reference C cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GTCAGTAAGTAC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgtcagtaagtacAGATCGAGACCCGACGC chr8:144510436-Reference-C;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Variant A cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg ATTCCACTAACC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAattccactaaccAGATCGAGACCCGACGC chr8:144510436-Variant-A;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Reference C cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GTTGGTGATGAA CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatCccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgttggtgatgaaAGATCGAGACCCGACGC chr8:144510436-Reference-C;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Variant A cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg GTAGAGCAGTAT CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAgtagagcagtatAGATCGAGACCCGACGC chr8:144510436-Variant-A;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Variant A cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg AGACGTCCTGAC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAagacgtcctgacAGATCGAGACCCGACGC chr8:144510436-Variant-A;Patient-94 chr8:144510436-CA Inherited Patient-94 3 prime UTR MAFA 6.4e-05 0.00016 NA NA NA MAFA 2165 Variant A cggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcg CGATCAACGTGC CGACGCGGTCTCTCTCTcggctggaatcccactgatggcccctgagggcctccgaaaacgggcagatAccccaggcgcctggcccagcctacagggcctggagcacccgcctcctcgAGAGGGAGACGGACGTCTCAATAAcgatcaacgtgcAGATCGAGACCCGACGC chr8:144510436-Variant-A;Patient-94 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Reference C gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ATCGTTATTCGG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAatcgttattcggAGATCGAGACCCGACGC chr8:145537837-Reference-C;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Reference C gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg CTCATGTTGCTA CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAActcatgttgctaAGATCGAGACCCGACGC chr8:145537837-Reference-C;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Reference C gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ACTTCTCGATAC CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAacttctcgatacAGATCGAGACCCGACGC chr8:145537837-Reference-C;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative A gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg AGCATTCCGTGG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAagcattccgtggAGATCGAGACCCGACGC chr8:145537837-Alternative-A;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Variant T gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg GGCGATAACAAG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAggcgataacaagAGATCGAGACCCGACGC chr8:145537837-Variant-T;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Variant T gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg CAAGCCAGAATT CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAcaagccagaattAGATCGAGACCCGACGC chr8:145537837-Variant-T;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative G gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg AAGGTTCCGCGT CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAaaggttccgcgtAGATCGAGACCCGACGC chr8:145537837-Alternative-G;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative A gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg CGTCAGTTAACT CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAcgtcagttaactAGATCGAGACCCGACGC chr8:145537837-Alternative-A;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Reference C gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg GTTGTTGGTTCT CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAgttgttggttctAGATCGAGACCCGACGC chr8:145537837-Reference-C;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Variant T gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ACACTTCTATCG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAacacttctatcgAGATCGAGACCCGACGC chr8:145537837-Variant-T;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative G gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ACGTGTTCGTCC CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAacgtgttcgtccAGATCGAGACCCGACGC chr8:145537837-Alternative-G;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative G gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ACGCGGTTGTTC CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAacgcggttgttcAGATCGAGACCCGACGC chr8:145537837-Alternative-G;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Reference C gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg GCATCAGTAGCT CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccCggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAgcatcagtagctAGATCGAGACCCGACGC chr8:145537837-Reference-C;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative A gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg CGTTCTTACGGC CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAcgttcttacggcAGATCGAGACCCGACGC chr8:145537837-Alternative-A;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative G gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg AGGCTAAGACTA CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAaggctaagactaAGATCGAGACCCGACGC chr8:145537837-Alternative-G;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative A gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg GTGACCGTTAGA CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAgtgaccgttagaAGATCGAGACCCGACGC chr8:145537837-Alternative-A;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Variant T gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg GATTACCGCCAC CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAgattaccgccacAGATCGAGACCCGACGC chr8:145537837-Variant-T;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative A gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg AAGGACGTCGCA CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccAggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAaaggacgtcgcaAGATCGAGACCCGACGC chr8:145537837-Alternative-A;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Alternative G gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg CGGCAAGTAACG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccGggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAcggcaagtaacgAGATCGAGACCCGACGC chr8:145537837-Alternative-G;Patient-98 chr8:145537837-CT DeNovo Patient-98 synonymous HSF1 0.000349 0.000887 0.48 9.23 -9.43 HSF1 22566 Variant T gggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctgg ATATGCGACACG CGACGCGGTCTCTCTCTgggaagcagctggtgcactacacagcgcagccgctgttcctgctggacccTggctccgtggacaccgggagcaacgacctgccggtgctgtttgagctggAGAGGGAGACGGACGTCTCAATAAatatgcgacacgAGATCGAGACCCGACGC chr8:145537837-Variant-T;Patient-98 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Reference G cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac ACCGTAGGACCT CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAaccgtaggacctAGATCGAGACCCGACGC chr8:145588321-Reference-G;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Reference G cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GTTATTCACGAG CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgttattcacgagAGATCGAGACCCGACGC chr8:145588321-Reference-G;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative C cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac CGAAGCCGTAAC CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAcgaagccgtaacAGATCGAGACCCGACGC chr8:145588321-Alternative-C;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Variant A cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac CAGCACATATAC CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAcagcacatatacAGATCGAGACCCGACGC chr8:145588321-Variant-A;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Variant A cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac AAGAATAAGGCG CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAaagaataaggcgAGATCGAGACCCGACGC chr8:145588321-Variant-A;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Variant A cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GATGTTCATGGT CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgatgttcatggtAGATCGAGACCCGACGC chr8:145588321-Variant-A;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Variant A cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac CGATCCGCAATC CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAcgatccgcaatcAGATCGAGACCCGACGC chr8:145588321-Variant-A;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative T cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac AGTCTAGATCCA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAagtctagatccaAGATCGAGACCCGACGC chr8:145588321-Alternative-T;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative T cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac ACTGCTGCGCTA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAactgctgcgctaAGATCGAGACCCGACGC chr8:145588321-Alternative-T;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Variant A cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GGCGAATTCGAG CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccAgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAggcgaattcgagAGATCGAGACCCGACGC chr8:145588321-Variant-A;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Reference G cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GCAGTATCGTGA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgcagtatcgtgaAGATCGAGACCCGACGC chr8:145588321-Reference-G;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative T cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac AAGCACGACGAC CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAaagcacgacgacAGATCGAGACCCGACGC chr8:145588321-Alternative-T;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Reference G cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac CAACACGTAACG CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAcaacacgtaacgAGATCGAGACCCGACGC chr8:145588321-Reference-G;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative T cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GCGTTACCGTCA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgcgttaccgtcaAGATCGAGACCCGACGC chr8:145588321-Alternative-T;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Reference G cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac ACAACCAACCTA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccGgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAacaaccaacctaAGATCGAGACCCGACGC chr8:145588321-Reference-G;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative T cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GGTAACGGTCTA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccTgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAggtaacggtctaAGATCGAGACCCGACGC chr8:145588321-Alternative-T;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative C cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac CGGCTTATTCTA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAcggcttattctaAGATCGAGACCCGACGC chr8:145588321-Alternative-C;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative C cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GTCATTGGCGGT CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgtcattggcggtAGATCGAGACCCGACGC chr8:145588321-Alternative-C;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative C cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac GATCGAGTGGCA CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAgatcgagtggcaAGATCGAGACCCGACGC chr8:145588321-Alternative-C;Patient-19 chr8:145588321-GA DeNovo Patient-19 intergenic 3.3e-05 0.001538462 0.23 6.28 0 SLC39A4 53957 Alternative C cacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaac AGTAACACGAAC CGACGCGGTCTCTCTCTcacctcggcctcccacagtgctgagatgacaggtgtgagccatggcgcccCgcccaagatggttttagatatgacaaaacatcttgatagaaactgaaacAGAGGGAGACGGACGTCTCAATAAagtaacacgaacAGATCGAGACCCGACGC chr8:145588321-Alternative-C;Patient-19 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Reference C cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GATGACGGAACA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAgatgacggaacaAGATCGAGACCCGACGC chr8:145762043-Reference-C;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Reference C cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CTAGTACTAAGG CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAActagtactaaggAGATCGAGACCCGACGC chr8:145762043-Reference-C;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Reference C cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GATTGGCGTGCA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAgattggcgtgcaAGATCGAGACCCGACGC chr8:145762043-Reference-C;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Reference C cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CGTCAAGAATGA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcgtcaagaatgaAGATCGAGACCCGACGC chr8:145762043-Reference-C;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Reference C cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CAACCAACACAG CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactCgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcaaccaacacagAGATCGAGACCCGACGC chr8:145762043-Reference-C;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative G cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GGTGACTTCGCA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAggtgacttcgcaAGATCGAGACCCGACGC chr8:145762043-Alternative-G;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative G cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GGCAGTAAGTAT CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAggcagtaagtatAGATCGAGACCCGACGC chr8:145762043-Alternative-G;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative G cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CAACGCAGTTCG CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcaacgcagttcgAGATCGAGACCCGACGC chr8:145762043-Alternative-G;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative A cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CGCAGAAGCAAG CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcgcagaagcaagAGATCGAGACCCGACGC chr8:145762043-Alternative-A;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Variant T cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcgg ACTTGATGATCG CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAacttgatgatcgAGATCGAGACCCGACGC chr8:145762043-Variant-T;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative G cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcgg AACAGCGTAACA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAaacagcgtaacaAGATCGAGACCCGACGC chr8:145762043-Alternative-G;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative G cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CTGTCGCACTTA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactGgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAActgtcgcacttaAGATCGAGACCCGACGC chr8:145762043-Alternative-G;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Variant T cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GACGTTAGTTCT CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAgacgttagttctAGATCGAGACCCGACGC chr8:145762043-Variant-T;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative A cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CACAGCACGGAT CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcacagcacggatAGATCGAGACCCGACGC chr8:145762043-Alternative-A;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Variant T cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcgg ACACGGAAGCTA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAacacggaagctaAGATCGAGACCCGACGC chr8:145762043-Variant-T;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative A cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GATAACGGAGAA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAgataacggagaaAGATCGAGACCCGACGC chr8:145762043-Alternative-A;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Variant T cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcgg ATAGCGACGGCA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAatagcgacggcaAGATCGAGACCCGACGC chr8:145762043-Variant-T;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative A cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcgg AACAAGGTCTTC CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAaacaaggtcttcAGATCGAGACCCGACGC chr8:145762043-Alternative-A;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Variant T cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcgg GCATAACACGTC CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactTgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAgcataacacgtcAGATCGAGACCCGACGC chr8:145762043-Variant-T;Patient-105 chr8:145762043-CT DeNovo Patient-105 intronic ARHGAP39 3.2e-05 3.85e-05 -0.05 1.93 0.16 RECQL4 18832 Alternative A cagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcgg CGTCACAGACTA CGACGCGGTCTCTCTCTcagctggccctcttctcccagggtcctgggtgaggccaggctgggtgactAgggactgggccagggacccctggcacagacctgctggtggcagcctcggAGAGGGAGACGGACGTCTCAATAAcgtcacagactaAGATCGAGACCCGACGC chr8:145762043-Alternative-A;Patient-105 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Reference T gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GGTGTCTGGCTA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAggtgtctggctaAGATCGAGACCCGACGC chr8:145782917-Reference-T;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Reference T gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg CGATTCCTGTCG CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAcgattcctgtcgAGATCGAGACCCGACGC chr8:145782917-Reference-T;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative G gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GACCGCATGTTC CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgaccgcatgttcAGATCGAGACCCGACGC chr8:145782917-Alternative-G;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Reference T gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GGCTTGCATCGA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAggcttgcatcgaAGATCGAGACCCGACGC chr8:145782917-Reference-T;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative G gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GCGACTCAGGTT CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgcgactcaggttAGATCGAGACCCGACGC chr8:145782917-Alternative-G;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Variant C gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GATACTGGCGAG CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgatactggcgagAGATCGAGACCCGACGC chr8:145782917-Variant-C;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Reference T gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg AACCGCTCATAA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAaaccgctcataaAGATCGAGACCCGACGC chr8:145782917-Reference-T;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Variant C gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg ACAACACCGGAC CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAacaacaccggacAGATCGAGACCCGACGC chr8:145782917-Variant-C;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative G gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GGCTAGGAGTCA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAggctaggagtcaAGATCGAGACCCGACGC chr8:145782917-Alternative-G;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative A gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GGTCTGTGCTTC CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAggtctgtgcttcAGATCGAGACCCGACGC chr8:145782917-Alternative-A;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Variant C gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg AGTAACAGGACG CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAagtaacaggacgAGATCGAGACCCGACGC chr8:145782917-Variant-C;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative A gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg ACAATGTTCGCA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAacaatgttcgcaAGATCGAGACCCGACGC chr8:145782917-Alternative-A;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative G gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GAGTAGGTGTCG CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgagtaggtgtcgAGATCGAGACCCGACGC chr8:145782917-Alternative-G;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Variant C gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GCGAATCCTGCA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgcgaatcctgcaAGATCGAGACCCGACGC chr8:145782917-Variant-C;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative A gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg CAACAATTGACC CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAcaacaattgaccAGATCGAGACCCGACGC chr8:145782917-Alternative-A;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative A gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GATGCATCAAGA CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgatgcatcaagaAGATCGAGACCCGACGC chr8:145782917-Alternative-A;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative A gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg ACCTGGTTCATT CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaAcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAacctggttcattAGATCGAGACCCGACGC chr8:145782917-Alternative-A;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Variant C gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GTAATTCTCGTC CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaCcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgtaattctcgtcAGATCGAGACCCGACGC chr8:145782917-Variant-C;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Reference T gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg CACATCGGCCTT CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaTcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAcacatcggccttAGATCGAGACCCGACGC chr8:145782917-Reference-T;Patient-66 chr8:145782917-TC DeNovo Patient-66 intronic ARHGAP39 0.000521 9.9e-05 -0.03 2.18 0 RECQL4 39706 Alternative G gcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaagg GTTACCTATGCT CGACGCGGTCTCTCTCTgcaaaaggctgaaccttcgtagtattcagcggcaaaaggctgaaccttcaGcgtattcagaggcaaaggctgaaccttcatagtattcagcggcaaaaggAGAGGGAGACGGACGTCTCAATAAgttacctatgctAGATCGAGACCCGACGC chr8:145782917-Alternative-G;Patient-66 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Variant C taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc CGCTTCGAACAC CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAcgcttcgaacacAGATCGAGACCCGACGC chr8:1496182-Variant-C;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Variant C taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc AGCCTTCTGTGC CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAagccttctgtgcAGATCGAGACCCGACGC chr8:1496182-Variant-C;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative A taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc ACATGCCATGAA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAacatgccatgaaAGATCGAGACCCGACGC chr8:1496182-Alternative-A;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Reference T taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GCGCTATACTAT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgcgctatactatAGATCGAGACCCGACGC chr8:1496182-Reference-T;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative G taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc CTGTGCCAGTCA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAActgtgccagtcaAGATCGAGACCCGACGC chr8:1496182-Alternative-G;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative G taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GCGTGAATTGAT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgcgtgaattgatAGATCGAGACCCGACGC chr8:1496182-Alternative-G;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative A taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc CGCACCAACAAG CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAcgcaccaacaagAGATCGAGACCCGACGC chr8:1496182-Alternative-A;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Reference T taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GTGTACCTCCGT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgtgtacctccgtAGATCGAGACCCGACGC chr8:1496182-Reference-T;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Variant C taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GACGCGTATTCG CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgacgcgtattcgAGATCGAGACCCGACGC chr8:1496182-Variant-C;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Variant C taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc ATTGAATGCCGG CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAattgaatgccggAGATCGAGACCCGACGC chr8:1496182-Variant-C;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative A taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GATCAACGGATA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgatcaacggataAGATCGAGACCCGACGC chr8:1496182-Alternative-A;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative A taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc ACAGCGTTGACA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAacagcgttgacaAGATCGAGACCCGACGC chr8:1496182-Alternative-A;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Reference T taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc ACGACATCTAAC CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAacgacatctaacAGATCGAGACCCGACGC chr8:1496182-Reference-T;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative G taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc ACTTACTTACGG CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAacttacttacggAGATCGAGACCCGACGC chr8:1496182-Alternative-G;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative G taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GTTCCGGCTGTT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgttccggctgttAGATCGAGACCCGACGC chr8:1496182-Alternative-G;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Variant C taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc AGGTATGGTACA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacCatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAaggtatggtacaAGATCGAGACCCGACGC chr8:1496182-Variant-C;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative A taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GTGGCATAGATA CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacAatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgtggcatagataAGATCGAGACCCGACGC chr8:1496182-Alternative-A;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Reference T taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc AGCCGATACAGT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAagccgatacagtAGATCGAGACCCGACGC chr8:1496182-Reference-T;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Reference T taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GAGTACAAGGTT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacTatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgagtacaaggttAGATCGAGACCCGACGC chr8:1496182-Reference-T;Patient-19 chr8:1496182-TC DeNovo Patient-19 intronic DLGAP2 3.2e-05 5.53e-05 0.04 3.22 -0.13 DLGAP2 46649 Alternative G taaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggc GCAAGCGCAACT CGACGCGGTCTCTCTCTtaaaacttcttaagctgtacgacaaaactgaaatctatgtgaaatacaacGatgcttttcccccaaattgttaatttcctttaataccacaaaatccggcAGAGGGAGACGGACGTCTCAATAAgcaagcgcaactAGATCGAGACCCGACGC chr8:1496182-Alternative-G;Patient-19 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Reference C tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagacctt CTATACCACGAA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAActataccacgaaAGATCGAGACCCGACGC chr8:16076300-Reference-C;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Reference C tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagacctt ACATCGGTGATA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAacatcggtgataAGATCGAGACCCGACGC chr8:16076300-Reference-C;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Reference C tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagacctt CGATTACTGACA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAcgattactgacaAGATCGAGACCCGACGC chr8:16076300-Reference-C;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Reference C tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagacctt CGACTCGAAGTC CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAcgactcgaagtcAGATCGAGACCCGACGC chr8:16076300-Reference-C;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative A tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagacctt GTAAGCGCGCTA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAgtaagcgcgctaAGATCGAGACCCGACGC chr8:16076300-Alternative-A;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative A tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagacctt ACCGCTCGTGTT CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAaccgctcgtgttAGATCGAGACCCGACGC chr8:16076300-Alternative-A;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative A tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagacctt GCATAATCTGCA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAgcataatctgcaAGATCGAGACCCGACGC chr8:16076300-Alternative-A;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Variant T tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagacctt GGTGATTCATAC CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAggtgattcatacAGATCGAGACCCGACGC chr8:16076300-Variant-T;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative A tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagacctt ACAATACTACGG CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAacaatactacggAGATCGAGACCCGACGC chr8:16076300-Alternative-A;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative A tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagacctt CGCAGATCGTCT CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgActttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAcgcagatcgtctAGATCGAGACCCGACGC chr8:16076300-Alternative-A;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Variant T tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagacctt ATTACGCCGTGG CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAattacgccgtggAGATCGAGACCCGACGC chr8:16076300-Variant-T;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Reference C tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagacctt ACATATGGCCGG CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgCctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAacatatggccggAGATCGAGACCCGACGC chr8:16076300-Reference-C;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Variant T tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagacctt AGCATCTGGTCG CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAagcatctggtcgAGATCGAGACCCGACGC chr8:16076300-Variant-T;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Variant T tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagacctt ATCTCGAAGGTT CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAatctcgaaggttAGATCGAGACCCGACGC chr8:16076300-Variant-T;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative G tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagacctt AGACGAGTCGCA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAagacgagtcgcaAGATCGAGACCCGACGC chr8:16076300-Alternative-G;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative G tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagacctt CGCGCAAGATCA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAcgcgcaagatcaAGATCGAGACCCGACGC chr8:16076300-Alternative-G;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Variant T tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagacctt GTGTTGGAGCGA CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgTctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAgtgttggagcgaAGATCGAGACCCGACGC chr8:16076300-Variant-T;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative G tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagacctt AGATGATTGGAC CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAagatgattggacAGATCGAGACCCGACGC chr8:16076300-Alternative-G;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative G tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagacctt GTAGGTACGCGT CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAgtaggtacgcgtAGATCGAGACCCGACGC chr8:16076300-Alternative-G;Patient-99 chr8:16076300-CT DeNovo Patient-99 intergenic 0.00071 0.000513 0.07 3.8 0 MSR1 25999 Alternative G tgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagacctt AGCATGCGGTAC CGACGCGGTCTCTCTCTtgttcatgtcctttgtgcactccttaatggggttatttgtttttttcttgGctttttttttcctgtttaaattcttcatagatgctggatattagaccttAGAGGGAGACGGACGTCTCAATAAagcatgcggtacAGATCGAGACCCGACGC chr8:16076300-Alternative-G;Patient-99 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative G ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga ACTAATAGGACG CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAactaataggacgAGATCGAGACCCGACGC chr8:1660981-Alternative-G;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative G ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga ATAACGACGTCT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAataacgacgtctAGATCGAGACCCGACGC chr8:1660981-Alternative-G;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative G ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GTGATACTAACC CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgtgatactaaccAGATCGAGACCCGACGC chr8:1660981-Alternative-G;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative G ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CATGAGGCTAAT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAcatgaggctaatAGATCGAGACCCGACGC chr8:1660981-Alternative-G;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Variant C ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CACGTTCGGTTC CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAcacgttcggttcAGATCGAGACCCGACGC chr8:1660981-Variant-C;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Variant C ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga AACGAGGTAGAA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAaacgaggtagaaAGATCGAGACCCGACGC chr8:1660981-Variant-C;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Variant C ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CTAACCTTGGAA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAActaaccttggaaAGATCGAGACCCGACGC chr8:1660981-Variant-C;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Variant C ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GTCCGAATTCGA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgtccgaattcgaAGATCGAGACCCGACGC chr8:1660981-Variant-C;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Variant C ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CGGATTCGATCG CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacCaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAcggattcgatcgAGATCGAGACCCGACGC chr8:1660981-Variant-C;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Reference A ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CTGTCGAAGATT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAActgtcgaagattAGATCGAGACCCGACGC chr8:1660981-Reference-A;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative T ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga ACGCGTACGGTT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAacgcgtacggttAGATCGAGACCCGACGC chr8:1660981-Alternative-T;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Reference A ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CTCAAGCGTGCA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAActcaagcgtgcaAGATCGAGACCCGACGC chr8:1660981-Reference-A;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative G ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GTACGAGTGGCA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacGaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgtacgagtggcaAGATCGAGACCCGACGC chr8:1660981-Alternative-G;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative T ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GCCGGTGTTCAA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgccggtgttcaaAGATCGAGACCCGACGC chr8:1660981-Alternative-T;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative T ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga ACAGCGGCTATT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAacagcggctattAGATCGAGACCCGACGC chr8:1660981-Alternative-T;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative T ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GCCGATGGAATC CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgccgatggaatcAGATCGAGACCCGACGC chr8:1660981-Alternative-T;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Reference A ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GGAGATCGTCCT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAggagatcgtcctAGATCGAGACCCGACGC chr8:1660981-Reference-A;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Reference A ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga CTAATAGCGGAT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAActaatagcggatAGATCGAGACCCGACGC chr8:1660981-Reference-A;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Reference A ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga GTCCGGTTGAGT CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacAaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAgtccggttgagtAGATCGAGACCCGACGC chr8:1660981-Reference-A;Patient-59 chr8:1660981-AC Inherited Patient-59 intergenic 3.2e-05 0.000513 -0.05 1.94 0 CLN8 50888 Alternative T ctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccaga AACGCCGCAGAA CGACGCGGTCTCTCTCTctccagcagacctgcagcagaggggcctgatggttagaaggaaaactaacTaacagaaagcaatagcatcaacatcaacaaaaaggacatccacaccagaAGAGGGAGACGGACGTCTCAATAAaacgccgcagaaAGATCGAGACCCGACGC chr8:1660981-Alternative-T;Patient-59 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Reference G ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GATCGTGATCCT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgatcgtgatcctAGATCGAGACCCGACGC chr8:16766154-Reference-G;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative A ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttat AACGCCATTGAC CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAaacgccattgacAGATCGAGACCCGACGC chr8:16766154-Alternative-A;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Reference G ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GGTTAGTGTTCA CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAggttagtgttcaAGATCGAGACCCGACGC chr8:16766154-Reference-G;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative C ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttat ACCTTATAACGC CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAaccttataacgcAGATCGAGACCCGACGC chr8:16766154-Alternative-C;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative A ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttat ACGCGAAGGAGT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAacgcgaaggagtAGATCGAGACCCGACGC chr8:16766154-Alternative-A;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Variant T ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttat CTAACCGCATCG CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAActaaccgcatcgAGATCGAGACCCGACGC chr8:16766154-Variant-T;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative A ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GTTCATGGAGAA CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgttcatggagaaAGATCGAGACCCGACGC chr8:16766154-Alternative-A;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Reference G ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GAGAGTCATCAA CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgagagtcatcaaAGATCGAGACCCGACGC chr8:16766154-Reference-G;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Variant T ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GTAGTCGCATTA CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgtagtcgcattaAGATCGAGACCCGACGC chr8:16766154-Variant-T;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative A ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttat ATCGGAACGAGT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAatcggaacgagtAGATCGAGACCCGACGC chr8:16766154-Alternative-A;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Variant T ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttat CGATTGAACGAT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAcgattgaacgatAGATCGAGACCCGACGC chr8:16766154-Variant-T;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Variant T ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttat ATACGATGCGCG CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAatacgatgcgcgAGATCGAGACCCGACGC chr8:16766154-Variant-T;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative A ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttat AGCATACGCCGT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaAagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAagcatacgccgtAGATCGAGACCCGACGC chr8:16766154-Alternative-A;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Reference G ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GTTAGCTAATCG CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgttagctaatcgAGATCGAGACCCGACGC chr8:16766154-Reference-G;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Variant T ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttat ACGGCATATTCA CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaTagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAacggcatattcaAGATCGAGACCCGACGC chr8:16766154-Variant-T;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Reference G ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttat AAGTGTTGGAAC CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaGagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAaagtgttggaacAGATCGAGACCCGACGC chr8:16766154-Reference-G;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative C ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttat CTCGTGGACCTT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAActcgtggaccttAGATCGAGACCCGACGC chr8:16766154-Alternative-C;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative C ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttat CACGATCGTGGT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAcacgatcgtggtAGATCGAGACCCGACGC chr8:16766154-Alternative-C;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative C ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttat AGTTCGCGAACG CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAagttcgcgaacgAGATCGAGACCCGACGC chr8:16766154-Alternative-C;Patient-69 chr8:16766154-GT DeNovo Patient-69 intergenic 6.4e-05 0.000513 0.49 9.3 0.24 FGF20 93519 Alternative C ccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttat GTAACGCAAGAT CGACGCGGTCTCTCTCTccttaacatgtggggattacaattcaagttgagatttgggtggggacacaCagcctaatcaattcatttggtaagcagttcttattactagaaaatttatAGAGGGAGACGGACGTCTCAATAAgtaacgcaagatAGATCGAGACCCGACGC chr8:16766154-Alternative-C;Patient-69 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative G tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CTAGCTATTCGC CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAActagctattcgcAGATCGAGACCCGACGC chr8:16971815-Alternative-G;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative G tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt GACGCAGTAGGT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAgacgcagtaggtAGATCGAGACCCGACGC chr8:16971815-Alternative-G;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative G tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt AAGATTACGTGG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAaagattacgtggAGATCGAGACCCGACGC chr8:16971815-Alternative-G;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative G tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt AAGCGCTCTTCG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAaagcgctcttcgAGATCGAGACCCGACGC chr8:16971815-Alternative-G;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative G tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt AGTCAGCCGGAT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgGgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAagtcagccggatAGATCGAGACCCGACGC chr8:16971815-Alternative-G;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Reference T tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CGTGCTACTGCT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAcgtgctactgctAGATCGAGACCCGACGC chr8:16971815-Reference-T;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Reference T tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CGGCGAGATATC CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAcggcgagatatcAGATCGAGACCCGACGC chr8:16971815-Reference-T;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Variant C tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CATATGGTATCG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAcatatggtatcgAGATCGAGACCCGACGC chr8:16971815-Variant-C;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Variant C tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CGGTATGTACTA CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAcggtatgtactaAGATCGAGACCCGACGC chr8:16971815-Variant-C;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative A tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt ATTGGATCGTGA CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAattggatcgtgaAGATCGAGACCCGACGC chr8:16971815-Alternative-A;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative A tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt ACAAGATACGCA CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAacaagatacgcaAGATCGAGACCCGACGC chr8:16971815-Alternative-A;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Reference T tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt AAGTAGCTCGTT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAaagtagctcgttAGATCGAGACCCGACGC chr8:16971815-Reference-T;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative A tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CGTTCAATCTGT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAcgttcaatctgtAGATCGAGACCCGACGC chr8:16971815-Alternative-A;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Variant C tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt GCAGGTCGCATT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAgcaggtcgcattAGATCGAGACCCGACGC chr8:16971815-Variant-C;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative A tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt ATCAAGCTGCCG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAatcaagctgccgAGATCGAGACCCGACGC chr8:16971815-Alternative-A;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Alternative A tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt ATACTACGGCGC CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgAgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAatactacggcgcAGATCGAGACCCGACGC chr8:16971815-Alternative-A;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Reference T tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt CTTACACGAGCA CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAActtacacgagcaAGATCGAGACCCGACGC chr8:16971815-Reference-T;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Variant C tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt AACCGGACGACT CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAaaccggacgactAGATCGAGACCCGACGC chr8:16971815-Variant-C;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Variant C tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt GCGTACTTGTCG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgCgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAgcgtacttgtcgAGATCGAGACCCGACGC chr8:16971815-Variant-C;Patient-59 chr8:16971815-TC DeNovo Patient-59 intronic MICU3 NA 4.95e-05 0.06 3.62 0.39 ZDHHC2 42020 Reference T tagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgt ATTACGAGATCG CGACGCGGTCTCTCTCTtagattttggcaaccaattaattaaatatgacatatcacccatcaacttgTgtgaaagtccggtgtatactttcagtgacaagtcagttctggtacttgtAGAGGGAGACGGACGTCTCAATAAattacgagatcgAGATCGAGACCCGACGC chr8:16971815-Reference-T;Patient-59 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Variant C ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GCGATAGACTAA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAgcgatagactaaAGATCGAGACCCGACGC chr8:17716481-Variant-C;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Variant C ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgc AGGCCGATAATT CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAaggccgataattAGATCGAGACCCGACGC chr8:17716481-Variant-C;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Variant C ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGCGCTAAGGAT CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcgcgctaaggatAGATCGAGACCCGACGC chr8:17716481-Variant-C;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Variant C ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GGAGATCAGTCG CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAggagatcagtcgAGATCGAGACCCGACGC chr8:17716481-Variant-C;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Variant C ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGAGATGTACGC CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaCagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcgagatgtacgcAGATCGAGACCCGACGC chr8:17716481-Variant-C;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative A ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgc AGGCGTACGAAG CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAaggcgtacgaagAGATCGAGACCCGACGC chr8:17716481-Alternative-A;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative A ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GCATTGCGGCTT CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAgcattgcggcttAGATCGAGACCCGACGC chr8:17716481-Alternative-A;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative A ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GAAGATACGGTT CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAgaagatacggttAGATCGAGACCCGACGC chr8:17716481-Alternative-A;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Reference G ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGGCTATCAATA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcggctatcaataAGATCGAGACCCGACGC chr8:17716481-Reference-G;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Reference G ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgc ATTCGTCGGTGG CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAattcgtcggtggAGATCGAGACCCGACGC chr8:17716481-Reference-G;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Reference G ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgc ACGTTGAGTAGA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAacgttgagtagaAGATCGAGACCCGACGC chr8:17716481-Reference-G;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative A ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CAGGTACTAGCG CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcaggtactagcgAGATCGAGACCCGACGC chr8:17716481-Alternative-A;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative T ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgc ACTTCTGACGAA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAacttctgacgaaAGATCGAGACCCGACGC chr8:17716481-Alternative-T;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Reference G ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGTCTGACGAAC CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcgtctgacgaacAGATCGAGACCCGACGC chr8:17716481-Reference-G;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Reference G ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GGCAATATAAGG CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaGagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAggcaatataaggAGATCGAGACCCGACGC chr8:17716481-Reference-G;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative T ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgc GACGAACATAAC CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAgacgaacataacAGATCGAGACCCGACGC chr8:17716481-Alternative-T;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative T ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgc AGATGATGAACC CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAagatgatgaaccAGATCGAGACCCGACGC chr8:17716481-Alternative-T;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative A ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGTACGTGCGAA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaAagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcgtacgtgcgaaAGATCGAGACCCGACGC chr8:17716481-Alternative-A;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative T ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CGTTGCGGAACA CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcgttgcggaacaAGATCGAGACCCGACGC chr8:17716481-Alternative-T;Patient-21 chr8:17716481-GC Inherited Patient-21 intergenic 0.000353 0.000513 -0.08 1.55 0.23 FGL1 36565 Alternative T ggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgc CAGACTTGATGT CGACGCGGTCTCTCTCTggagtgcaatggcggctcggctcaccgcaacctccgcctcccagatgcaaTagattctcctgccttagcctcccaagaagctgggattacaggcacccgcAGAGGGAGACGGACGTCTCAATAAcagacttgatgtAGATCGAGACCCGACGC chr8:17716481-Alternative-T;Patient-21 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Reference G tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat GTAATCTCTTCG CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAgtaatctcttcgAGATCGAGACCCGACGC chr8:21552711-Reference-G;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Reference G tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CTACAAGTTCGA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAActacaagttcgaAGATCGAGACCCGACGC chr8:21552711-Reference-G;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative T tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat GACGTATGAGCG CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAgacgtatgagcgAGATCGAGACCCGACGC chr8:21552711-Alternative-T;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative T tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat GATAGATCTGCT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAgatagatctgctAGATCGAGACCCGACGC chr8:21552711-Alternative-T;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Reference G tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat ATCGAACGTGAA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAatcgaacgtgaaAGATCGAGACCCGACGC chr8:21552711-Reference-G;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Reference G tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat AACCAACGTGAA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAaaccaacgtgaaAGATCGAGACCCGACGC chr8:21552711-Reference-G;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Reference G tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CGTTATTCTCCT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattGtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcgttattctcctAGATCGAGACCCGACGC chr8:21552711-Reference-G;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative T tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CGGTCATCGAGA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcggtcatcgagaAGATCGAGACCCGACGC chr8:21552711-Alternative-T;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative C tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CAACTGAGTTGT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcaactgagttgtAGATCGAGACCCGACGC chr8:21552711-Alternative-C;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Variant A tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat GGACGAACTTAT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAggacgaacttatAGATCGAGACCCGACGC chr8:21552711-Variant-A;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Variant A tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat AGGTACCTGCAA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAaggtacctgcaaAGATCGAGACCCGACGC chr8:21552711-Variant-A;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Variant A tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat AGTCATGGTAGA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAagtcatggtagaAGATCGAGACCCGACGC chr8:21552711-Variant-A;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative C tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat ACTCATTCGCAT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAactcattcgcatAGATCGAGACCCGACGC chr8:21552711-Alternative-C;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Variant A tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat ATAGCGAATGCA CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAatagcgaatgcaAGATCGAGACCCGACGC chr8:21552711-Variant-A;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative T tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat AATATTCGCACG CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAaatattcgcacgAGATCGAGACCCGACGC chr8:21552711-Alternative-T;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative C tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CATCGCTTAGTT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcatcgcttagttAGATCGAGACCCGACGC chr8:21552711-Alternative-C;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative C tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CTTATGACGAGT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAActtatgacgagtAGATCGAGACCCGACGC chr8:21552711-Alternative-C;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative T tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CGGATGGCTAAC CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattTtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcggatggctaacAGATCGAGACCCGACGC chr8:21552711-Alternative-T;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Alternative C tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat AGCCGTAGGTGT CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattCtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAagccgtaggtgtAGATCGAGACCCGACGC chr8:21552711-Alternative-C;Patient-104 chr8:21552711-GA DeNovo Patient-104 intronic GFRA2 NA 3.91e-05 -0.04 2.01 -0.98 GFRA2 93634 Variant A tgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgat CAGCTTACATTC CGACGCGGTCTCTCTCTtgggcaaggtgagggacgagaagggctgccttggtaatgattccaagattAtctaccctggtgtggccacctggatgcagggccagagggcgcacatgatAGAGGGAGACGGACGTCTCAATAAcagcttacattcAGATCGAGACCCGACGC chr8:21552711-Variant-A;Patient-104 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Reference G gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CATCTAGCCGGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcatctagccggtAGATCGAGACCCGACGC chr8:21967091-Reference-G;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Reference G gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg ATTCCAACGTCA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAattccaacgtcaAGATCGAGACCCGACGC chr8:21967091-Reference-G;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Reference G gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CGGATCGCTACA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcggatcgctacaAGATCGAGACCCGACGC chr8:21967091-Reference-G;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Variant T gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GCGTCTAGTATA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgcgtctagtataAGATCGAGACCCGACGC chr8:21967091-Variant-T;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Variant T gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GATCGGTATGGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgatcggtatggtAGATCGAGACCCGACGC chr8:21967091-Variant-T;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Reference G gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg AGTGGCTTGCAC CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAagtggcttgcacAGATCGAGACCCGACGC chr8:21967091-Reference-G;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Variant T gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GGCTGTCATATA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAggctgtcatataAGATCGAGACCCGACGC chr8:21967091-Variant-T;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Reference G gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GTCGCCAAGAGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaGcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgtcgccaagagtAGATCGAGACCCGACGC chr8:21967091-Reference-G;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Variant T gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg AATAGCCACCGG CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAaatagccaccggAGATCGAGACCCGACGC chr8:21967091-Variant-T;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Variant T gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CAACGCAGTCGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaTcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcaacgcagtcgtAGATCGAGACCCGACGC chr8:21967091-Variant-T;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative A gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg AGGTGACGGTGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAaggtgacggtgtAGATCGAGACCCGACGC chr8:21967091-Alternative-A;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative C gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CGAACAGTCGTC CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcgaacagtcgtcAGATCGAGACCCGACGC chr8:21967091-Alternative-C;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative C gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CACGTTGCTGAG CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcacgttgctgagAGATCGAGACCCGACGC chr8:21967091-Alternative-C;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative C gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg ATCTCATGACGA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAatctcatgacgaAGATCGAGACCCGACGC chr8:21967091-Alternative-C;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative A gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CTCTAACGATCG CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAActctaacgatcgAGATCGAGACCCGACGC chr8:21967091-Alternative-A;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative C gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CGTCCACGCTTA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcgtccacgcttaAGATCGAGACCCGACGC chr8:21967091-Alternative-C;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative A gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GTATTCATCGTC CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgtattcatcgtcAGATCGAGACCCGACGC chr8:21967091-Alternative-A;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative A gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GAGGTGACGCAT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgaggtgacgcatAGATCGAGACCCGACGC chr8:21967091-Alternative-A;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative C gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg GATTCGATCAGT CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaCcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAgattcgatcagtAGATCGAGACCCGACGC chr8:21967091-Alternative-C;Patient-75 chr8:21967091-GT DeNovo Patient-75 intergenic 2.1e-05 0.000479 0.38 8.18 -0.54 FGF17 66662 Alternative A gggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcg CATTATCGCGAA CGACGCGGTCTCTCTCTgggcggggccgcccggggccgccctggaactgggggggcacgggtccggaAcccagcggaccccgcccggcttctgccgcctgtcagtcccgtgcgctcgAGAGGGAGACGGACGTCTCAATAAcattatcgcgaaAGATCGAGACCCGACGC chr8:21967091-Alternative-A;Patient-75 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative G gccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CGGCAGCACATT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcggcagcacattAGATCGAGACCCGACGC chr8:22555869-Alternative-G;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Reference T gccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CACGGATGGCTA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcacggatggctaAGATCGAGACCCGACGC chr8:22555869-Reference-T;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Reference T gccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat GTCATGGAGTCT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAgtcatggagtctAGATCGAGACCCGACGC chr8:22555869-Reference-T;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Reference T gccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat ATATGAGCATGC CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAatatgagcatgcAGATCGAGACCCGACGC chr8:22555869-Reference-T;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative A gccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CTCACACCGCAA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAActcacaccgcaaAGATCGAGACCCGACGC chr8:22555869-Alternative-A;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Reference T gccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CGACGAGTGTTC CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcgacgagtgttcAGATCGAGACCCGACGC chr8:22555869-Reference-T;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Reference T gccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat GCCGAATGGCAT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttTttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAgccgaatggcatAGATCGAGACCCGACGC chr8:22555869-Reference-T;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative A gccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CTCATACGTTGT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAActcatacgttgtAGATCGAGACCCGACGC chr8:22555869-Alternative-A;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative A gccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CAACGAATTCCA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcaacgaattccaAGATCGAGACCCGACGC chr8:22555869-Alternative-A;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative A gccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CTAAGCCAATGA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAActaagccaatgaAGATCGAGACCCGACGC chr8:22555869-Alternative-A;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative A gccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat GCGTTCATAAGT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttAttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAgcgttcataagtAGATCGAGACCCGACGC chr8:22555869-Alternative-A;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative G gccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CATCATGCAAGT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcatcatgcaagtAGATCGAGACCCGACGC chr8:22555869-Alternative-G;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Variant C gccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat ACATGTTCACGA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAacatgttcacgaAGATCGAGACCCGACGC chr8:22555869-Variant-C;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Variant C gccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat AGTATCGCAGTT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAagtatcgcagttAGATCGAGACCCGACGC chr8:22555869-Variant-C;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative G gccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat AGCCTTAGTCGG CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAagccttagtcggAGATCGAGACCCGACGC chr8:22555869-Alternative-G;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Variant C gccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CAGCGTACGGTT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcagcgtacggttAGATCGAGACCCGACGC chr8:22555869-Variant-C;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative G gccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CGTCGTGAAGAA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcgtcgtgaagaaAGATCGAGACCCGACGC chr8:22555869-Alternative-G;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Alternative G gccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat ATACGAGCCGAA CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttGttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAatacgagccgaaAGATCGAGACCCGACGC chr8:22555869-Alternative-G;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Variant C gccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat AGACTAACCTAC CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAagactaacctacAGATCGAGACCCGACGC chr8:22555869-Variant-C;Patient-77 chr8:22555869-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA EGR3 5053 Variant C gccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaat CATAGTGAGCTT CGACGCGGTCTCTCTCTgccttgtggacacatttcattttcttcagttttctttctttctttcttttCttttttttttaaatagtgtcttgttctgttgtccacgctggagtgcaatAGAGGGAGACGGACGTCTCAATAAcatagtgagcttAGATCGAGACCCGACGC chr8:22555869-Variant-C;Patient-77 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Variant G aggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag GGTTCAATTGAC CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAggttcaattgacAGATCGAGACCCGACGC chr8:22738223-Variant-G;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative T aggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag AGTGCGGAATTA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAagtgcggaattaAGATCGAGACCCGACGC chr8:22738223-Alternative-T;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative T aggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag GTTCCAGTAGAT CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAgttccagtagatAGATCGAGACCCGACGC chr8:22738223-Alternative-T;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Variant G aggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag CTATGTGAAGTC CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAActatgtgaagtcAGATCGAGACCCGACGC chr8:22738223-Variant-G;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative T aggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag ACACGGTGGACA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAacacggtggacaAGATCGAGACCCGACGC chr8:22738223-Alternative-T;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative T aggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag AATCTCCGGACG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAaatctccggacgAGATCGAGACCCGACGC chr8:22738223-Alternative-T;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Reference C aggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag CGATTAGCCATA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAcgattagccataAGATCGAGACCCGACGC chr8:22738223-Reference-C;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Reference C aggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag GACCTAGCACGA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAgacctagcacgaAGATCGAGACCCGACGC chr8:22738223-Reference-C;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative A aggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccag GTGTTCGTGCAG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAgtgttcgtgcagAGATCGAGACCCGACGC chr8:22738223-Alternative-A;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative A aggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccag CGAGATCTACCA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAcgagatctaccaAGATCGAGACCCGACGC chr8:22738223-Alternative-A;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative A aggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccag ATCATGTGGTCA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAatcatgtggtcaAGATCGAGACCCGACGC chr8:22738223-Alternative-A;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative A aggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccag ATAAGGTCTTCG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAataaggtcttcgAGATCGAGACCCGACGC chr8:22738223-Alternative-A;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Reference C aggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag CTCTTAACAACG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAActcttaacaacgAGATCGAGACCCGACGC chr8:22738223-Reference-C;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Variant G aggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag ACCGATACGTCG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAaccgatacgtcgAGATCGAGACCCGACGC chr8:22738223-Variant-G;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative A aggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccag AAGCAGGTATGG CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagActtctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAaagcaggtatggAGATCGAGACCCGACGC chr8:22738223-Alternative-A;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Alternative T aggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag GTTGTGCGAGCT CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagTcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAgttgtgcgagctAGATCGAGACCCGACGC chr8:22738223-Alternative-T;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Reference C aggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag AACCGTCTGTAA CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAaaccgtctgtaaAGATCGAGACCCGACGC chr8:22738223-Reference-C;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Reference C aggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag CGACTCGTTATT CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagCcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAcgactcgttattAGATCGAGACCCGACGC chr8:22738223-Reference-C;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Variant G aggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag CGTCGGAATATT CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAcgtcggaatattAGATCGAGACCCGACGC chr8:22738223-Variant-G;Patient-75 chr8:22738223-CG DeNovo Patient-75 intronic PEBP4 NA 4.95e-05 -0.32 0.32 -3 PEBP4 47197 Variant G aggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccag GCGCATAGAGGT CGACGCGGTCTCTCTCTaggtgctctccctacttgcccttcccgataccttcctccccattctgcagGcttctctcggccatgcagagatggatgtggagtggcccaggtggaccagAGAGGGAGACGGACGTCTCAATAAgcgcatagaggtAGATCGAGACCCGACGC chr8:22738223-Variant-G;Patient-75 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Variant G taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt CGGTATACAGAA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAcggtatacagaaAGATCGAGACCCGACGC chr8:22822772-Variant-G;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative T taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GGCCGACTTCTA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAggccgacttctaAGATCGAGACCCGACGC chr8:22822772-Alternative-T;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative T taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt AGCCGGTTAAGG CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAagccggttaaggAGATCGAGACCCGACGC chr8:22822772-Alternative-T;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Variant G taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GGAACGAATGCA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAggaacgaatgcaAGATCGAGACCCGACGC chr8:22822772-Variant-G;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative T taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GTTGGTTATCAG CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAgttggttatcagAGATCGAGACCCGACGC chr8:22822772-Alternative-T;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Variant G taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt ACATCGTAGTGT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAacatcgtagtgtAGATCGAGACCCGACGC chr8:22822772-Variant-G;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Variant G taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt CGAGCCATATAC CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAcgagccatatacAGATCGAGACCCGACGC chr8:22822772-Variant-G;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Variant G taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt AGGTTCGGAACG CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatGcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAaggttcggaacgAGATCGAGACCCGACGC chr8:22822772-Variant-G;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Reference A taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GGTCTTCGATAA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAggtcttcgataaAGATCGAGACCCGACGC chr8:22822772-Reference-A;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Reference A taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt ATCCGTGCAACG CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAatccgtgcaacgAGATCGAGACCCGACGC chr8:22822772-Reference-A;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Reference A taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt AGTCTCCTAGCG CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAagtctcctagcgAGATCGAGACCCGACGC chr8:22822772-Reference-A;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative T taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt ATCTTGGTAGGT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAatcttggtaggtAGATCGAGACCCGACGC chr8:22822772-Alternative-T;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Reference A taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt CACTTATACGCT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAcacttatacgctAGATCGAGACCCGACGC chr8:22822772-Reference-A;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Reference A taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt AAGTGCTATCCT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatAcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAaagtgctatcctAGATCGAGACCCGACGC chr8:22822772-Reference-A;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative T taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GATGCGATTCGC CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatTcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAgatgcgattcgcAGATCGAGACCCGACGC chr8:22822772-Alternative-T;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative C taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GACGGCGTCTAT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAgacggcgtctatAGATCGAGACCCGACGC chr8:22822772-Alternative-C;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative C taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt CGAAGACTACGA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAcgaagactacgaAGATCGAGACCCGACGC chr8:22822772-Alternative-C;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative C taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GTGATCGTGATT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAgtgatcgtgattAGATCGAGACCCGACGC chr8:22822772-Alternative-C;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative C taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt GCGCAAGAATAT CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAgcgcaagaatatAGATCGAGACCCGACGC chr8:22822772-Alternative-C;Patient-58 chr8:22822772-AG DeNovo Patient-58 intergenic 0.000573 0.002051282 0.13 4.7 0.21 RHOBTB2 22157 Alternative C taacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatctt ACCAATAGCAGA CGACGCGGTCTCTCTCTtaacccaaatatttgtcaacctcatagctgactttaaaaataattgtaatCcaattaagctatctgactcaaaaagaaaatctaagtggaaagacatcttAGAGGGAGACGGACGTCTCAATAAaccaatagcagaAGATCGAGACCCGACGC chr8:22822772-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Reference A ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa ATATAAGCGGCA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAatataagcggcaAGATCGAGACCCGACGC chr8:24738144-Reference-A;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Reference A ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GTGCTCACTTAT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgtgctcacttatAGATCGAGACCCGACGC chr8:24738144-Reference-A;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative C ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa CTGCGCTGTAAC CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAActgcgctgtaacAGATCGAGACCCGACGC chr8:24738144-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative C ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa ACTGGTACACTT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAactggtacacttAGATCGAGACCCGACGC chr8:24738144-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Reference A ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GACTGGAATGAA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgactggaatgaaAGATCGAGACCCGACGC chr8:24738144-Reference-A;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative C ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GGTGTTAATGCA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAggtgttaatgcaAGATCGAGACCCGACGC chr8:24738144-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative T ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GGTTGCCTTAGG CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAggttgccttaggAGATCGAGACCCGACGC chr8:24738144-Alternative-T;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Reference A ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GACGTACTAAGA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgacgtactaagaAGATCGAGACCCGACGC chr8:24738144-Reference-A;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Variant G ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GTAGATCGTGTT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgtagatcgtgttAGATCGAGACCCGACGC chr8:24738144-Variant-G;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative C ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GTCGAGCGTTGT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgtcgagcgttgtAGATCGAGACCCGACGC chr8:24738144-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative C ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa AATGTCTAACGG CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatCtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAaatgtctaacggAGATCGAGACCCGACGC chr8:24738144-Alternative-C;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative T ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa CAGCAGTAGCGA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAcagcagtagcgaAGATCGAGACCCGACGC chr8:24738144-Alternative-T;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative T ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa AGGTATGCTAGA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAaggtatgctagaAGATCGAGACCCGACGC chr8:24738144-Alternative-T;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative T ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa AACTTGCTGACA CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAaacttgctgacaAGATCGAGACCCGACGC chr8:24738144-Alternative-T;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Reference A ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa AACGCCTCGGTT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatAtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAaacgcctcggttAGATCGAGACCCGACGC chr8:24738144-Reference-A;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Alternative T ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GCAGTGACCGAT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatTtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAgcagtgaccgatAGATCGAGACCCGACGC chr8:24738144-Alternative-T;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Variant G ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa CTCAACGAGTAT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAActcaacgagtatAGATCGAGACCCGACGC chr8:24738144-Variant-G;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Variant G ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa GGACACCATGAG CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAggacaccatgagAGATCGAGACCCGACGC chr8:24738144-Variant-G;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Variant G ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa AGCAGGTCTTAT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAagcaggtcttatAGATCGAGACCCGACGC chr8:24738144-Variant-G;Patient-58 chr8:24738144-AG Inherited Patient-58 intergenic 6.4e-05 0.00154 -0.08 1.63 -2.08 NEFM 33129 Variant G ccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaa CAACGATACGCT CGACGCGGTCTCTCTCTccttatccactctttgtattgtgcaatttgtccatttttgcctgacttatGtatgttgaatagtatcttaccatttcaatttgctataaaatgattacaaAGAGGGAGACGGACGTCTCAATAAcaacgatacgctAGATCGAGACCCGACGC chr8:24738144-Variant-G;Patient-58 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Variant C agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc AGCGCGCATTCT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAagcgcgcattctAGATCGAGACCCGACGC chr8:25072960-Variant-C;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Variant C agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CTAACGGAAGCA CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAActaacggaagcaAGATCGAGACCCGACGC chr8:25072960-Variant-C;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Reference T agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc GGTTCGTCCAAG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAggttcgtccaagAGATCGAGACCCGACGC chr8:25072960-Reference-T;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Reference T agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc GAGTCTCGAATT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAgagtctcgaattAGATCGAGACCCGACGC chr8:25072960-Reference-T;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Reference T agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc GTGAGCGCTCTT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAgtgagcgctcttAGATCGAGACCCGACGC chr8:25072960-Reference-T;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Variant C agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc ATCTTAGCGGAT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAatcttagcggatAGATCGAGACCCGACGC chr8:25072960-Variant-C;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Reference T agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc ACGATTGCGAAC CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAacgattgcgaacAGATCGAGACCCGACGC chr8:25072960-Reference-T;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Reference T agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CTTAGACACCAC CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcTacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAActtagacaccacAGATCGAGACCCGACGC chr8:25072960-Reference-T;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative A agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc GGACTTATGCAC CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAggacttatgcacAGATCGAGACCCGACGC chr8:25072960-Alternative-A;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative G agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc AGTGCGAACGAG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAagtgcgaacgagAGATCGAGACCCGACGC chr8:25072960-Alternative-G;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative G agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc GTAACGAACGGC CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAgtaacgaacggcAGATCGAGACCCGACGC chr8:25072960-Alternative-G;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative A agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CGTTGTACTCTA CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAcgttgtactctaAGATCGAGACCCGACGC chr8:25072960-Alternative-A;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative A agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CGAATTCCGACG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAcgaattccgacgAGATCGAGACCCGACGC chr8:25072960-Alternative-A;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative A agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc ATTGCGAGGTGG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAattgcgaggtggAGATCGAGACCCGACGC chr8:25072960-Alternative-A;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative A agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CATCTGCCATAT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcAacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAcatctgccatatAGATCGAGACCCGACGC chr8:25072960-Alternative-A;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative G agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc AGTAGTAGATCG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAagtagtagatcgAGATCGAGACCCGACGC chr8:25072960-Alternative-G;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative G agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc AGCCGGATTCCA CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAagccggattccaAGATCGAGACCCGACGC chr8:25072960-Alternative-G;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Alternative G agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CAGTTAACGTGT CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcGacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAcagttaacgtgtAGATCGAGACCCGACGC chr8:25072960-Alternative-G;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Variant C agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc AACCGCAATAAG CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAaaccgcaataagAGATCGAGACCCGACGC chr8:25072960-Variant-C;Patient-85 chr8:25072960-TC Inherited Patient-85 intronic DOCK5 0.000128 4.95e-05 -0.02 2.31 -0.68 DOCK5 30672 Variant C agagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtc CGCGACTAACTA CGACGCGGTCTCTCTCTagagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttcCacaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcAGAGGGAGACGGACGTCTCAATAAcgcgactaactaAGATCGAGACCCGACGC chr8:25072960-Variant-C;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative G gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca ATTCCTGCACAC CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAattcctgcacacAGATCGAGACCCGACGC chr8:25072961-Alternative-G;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative G gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca ACCGCACTGTCA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAaccgcactgtcaAGATCGAGACCCGACGC chr8:25072961-Alternative-G;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative G gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GCGATTCCTTAT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAgcgattccttatAGATCGAGACCCGACGC chr8:25072961-Alternative-G;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative G gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CGGTAGCGTCTA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcggtagcgtctaAGATCGAGACCCGACGC chr8:25072961-Alternative-G;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Variant T gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GGTCACGACTAT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAggtcacgactatAGATCGAGACCCGACGC chr8:25072961-Variant-T;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Reference A gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GGAGGAATAAGT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAggaggaataagtAGATCGAGACCCGACGC chr8:25072961-Reference-A;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Variant T gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca AGATTGGTGCGA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAagattggtgcgaAGATCGAGACCCGACGC chr8:25072961-Variant-T;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative C gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GGAACGCGGTAT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAggaacgcggtatAGATCGAGACCCGACGC chr8:25072961-Alternative-C;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Reference A gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca ATCGTTCTTGAC CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAatcgttcttgacAGATCGAGACCCGACGC chr8:25072961-Reference-A;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative C gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CGACGGACAACA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcgacggacaacaAGATCGAGACCCGACGC chr8:25072961-Alternative-C;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative G gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca ATATAGCAGGAC CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctGcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAatatagcaggacAGATCGAGACCCGACGC chr8:25072961-Alternative-G;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Variant T gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GTACCGACGGTT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAgtaccgacggttAGATCGAGACCCGACGC chr8:25072961-Variant-T;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Variant T gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca AACTCTATCCGT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAaactctatccgtAGATCGAGACCCGACGC chr8:25072961-Variant-T;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative C gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CATGCGATTAAG CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcatgcgattaagAGATCGAGACCCGACGC chr8:25072961-Alternative-C;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Variant T gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CATAACATGCCA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctTcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcataacatgccaAGATCGAGACCCGACGC chr8:25072961-Variant-T;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative C gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CAGGATCGTTAT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcaggatcgttatAGATCGAGACCCGACGC chr8:25072961-Alternative-C;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Reference A gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CGGCGTCAATGA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcggcgtcaatgaAGATCGAGACCCGACGC chr8:25072961-Reference-A;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Reference A gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CGATGCTCGAAC CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAcgatgctcgaacAGATCGAGACCCGACGC chr8:25072961-Reference-A;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Reference A gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca GTTATGTCTCGT CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctAcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAAgttatgtctcgtAGATCGAGACCCGACGC chr8:25072961-Reference-A;Patient-85 chr8:25072961-AT Inherited Patient-85 intronic DOCK5 6.4e-05 4.95e-05 0.06 3.65 -0.71 DOCK5 30673 Alternative C gagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtca CTCGCGGCTTAA CGACGCGGTCTCTCTCTgagagaggcacagaactttcagtgcttcaagtgcaggaagtgtttcttctCcaccccgatccccagtaccctggccatcatcagaggccgagtaaggtcaAGAGGGAGACGGACGTCTCAATAActcgcggcttaaAGATCGAGACCCGACGC chr8:25072961-Alternative-C;Patient-85 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Reference C aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat AACTCAATTGCG CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAaactcaattgcgAGATCGAGACCCGACGC chr8:27124190-Reference-C;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative G aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat ACATCGAATCGT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAacatcgaatcgtAGATCGAGACCCGACGC chr8:27124190-Alternative-G;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Reference C aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat AACTTCGTCAGA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAaacttcgtcagaAGATCGAGACCCGACGC chr8:27124190-Reference-C;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative G aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat AACAAGCGTGTT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAaacaagcgtgttAGATCGAGACCCGACGC chr8:27124190-Alternative-G;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative G aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CGTTACTCGTTA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcgttactcgttaAGATCGAGACCCGACGC chr8:27124190-Alternative-G;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Reference C aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat GACTATATTCGC CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAgactatattcgcAGATCGAGACCCGACGC chr8:27124190-Reference-C;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Reference C aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat AGCGCGGTACTA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAagcgcggtactaAGATCGAGACCCGACGC chr8:27124190-Reference-C;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Variant T aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CTTGGTTCGGCA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAActtggttcggcaAGATCGAGACCCGACGC chr8:27124190-Variant-T;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Reference C aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat GGACTCGGCTTA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaCcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAggactcggcttaAGATCGAGACCCGACGC chr8:27124190-Reference-C;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative A aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat GGAGGATCGTGT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAggaggatcgtgtAGATCGAGACCCGACGC chr8:27124190-Alternative-A;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative A aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CTAGTGACCGGT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAActagtgaccggtAGATCGAGACCCGACGC chr8:27124190-Alternative-A;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative G aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CGCTCCGATAAC CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcgctccgataacAGATCGAGACCCGACGC chr8:27124190-Alternative-G;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative A aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat GATGCACATCAT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAgatgcacatcatAGATCGAGACCCGACGC chr8:27124190-Alternative-A;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Variant T aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CAAGGTGCGCTA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcaaggtgcgctaAGATCGAGACCCGACGC chr8:27124190-Variant-T;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative A aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat ATCTAGCAATCG CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAatctagcaatcgAGATCGAGACCCGACGC chr8:27124190-Alternative-A;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative A aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat GTACAAGGTTCT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaAcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAgtacaaggttctAGATCGAGACCCGACGC chr8:27124190-Alternative-A;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Variant T aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CGCATTCGATAA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcgcattcgataaAGATCGAGACCCGACGC chr8:27124190-Variant-T;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Variant T aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat AGGAGAACGGCA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAaggagaacggcaAGATCGAGACCCGACGC chr8:27124190-Variant-T;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Alternative G aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CACATCGTCCTA CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaGcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcacatcgtcctaAGATCGAGACCCGACGC chr8:27124190-Alternative-G;Patient-89 chr8:27124190-CT Inherited Patient-89 intergenic 0.000414 0.000513 -0.03 2.19 0.49 STMN4 8286 Variant T aggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagat CGTCCTGACGTT CGACGCGGTCTCTCTCTaggaaggaccctcaagacagaagcccctgggcaggctactggtgttgaaaTcacctttccaaaaattacacactgagaaaatgatggcagtgggagagatAGAGGGAGACGGACGTCTCAATAAcgtcctgacgttAGATCGAGACCCGACGC chr8:27124190-Variant-T;Patient-89 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative C ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcact CAAGCCGACAAC CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcaagccgacaacAGATCGAGACCCGACGC chr8:27194166-Alternative-C;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Variant G ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcact GTAGGATTGGCG CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAgtaggattggcgAGATCGAGACCCGACGC chr8:27194166-Variant-G;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative C ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcact ATACTTCCTGGT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAatacttcctggtAGATCGAGACCCGACGC chr8:27194166-Alternative-C;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative T ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcact CGTGACGCAGAA CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcgtgacgcagaaAGATCGAGACCCGACGC chr8:27194166-Alternative-T;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative C ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcact AACAAGTCAGGT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAaacaagtcaggtAGATCGAGACCCGACGC chr8:27194166-Alternative-C;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Reference A ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcact AGCAATGTCGGT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAagcaatgtcggtAGATCGAGACCCGACGC chr8:27194166-Reference-A;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Reference A ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcact ACCGTGATATAC CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAaccgtgatatacAGATCGAGACCCGACGC chr8:27194166-Reference-A;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative C ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcact GCGCTACCAAGA CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAgcgctaccaagaAGATCGAGACCCGACGC chr8:27194166-Alternative-C;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative T ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcact ATTACTCGGAAC CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAattactcggaacAGATCGAGACCCGACGC chr8:27194166-Alternative-T;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Variant G ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcact ATCCGAACGTAC CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAatccgaacgtacAGATCGAGACCCGACGC chr8:27194166-Variant-G;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Variant G ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcact GATTCGATACAC CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAgattcgatacacAGATCGAGACCCGACGC chr8:27194166-Variant-G;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Variant G ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcact CGTGTATCACTT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcgtgtatcacttAGATCGAGACCCGACGC chr8:27194166-Variant-G;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Variant G ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcact ATAGCGTTGGAA CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatGctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAatagcgttggaaAGATCGAGACCCGACGC chr8:27194166-Variant-G;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative T ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcact CACGGAACGGAT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcacggaacggatAGATCGAGACCCGACGC chr8:27194166-Alternative-T;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Reference A ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcact CTGCATTCGAAT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAActgcattcgaatAGATCGAGACCCGACGC chr8:27194166-Reference-A;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative C ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcact AACACGAACGAT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatCctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAaacacgaacgatAGATCGAGACCCGACGC chr8:27194166-Alternative-C;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Reference A ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcact CAGATATACGAG CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcagatatacgagAGATCGAGACCCGACGC chr8:27194166-Reference-A;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative T ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcact GATAGGCATCTT CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAgataggcatcttAGATCGAGACCCGACGC chr8:27194166-Alternative-T;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Reference A ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcact AGAAGAGCATGA CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatActgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAagaagagcatgaAGATCGAGACCCGACGC chr8:27194166-Reference-A;Patient-59 chr8:27194166-AG DeNovo Patient-59 intronic PTK2B NA 0.00016 0.66 10.78 2.05 PTK2B 25166 Alternative T ttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcact CGGCTAACTGAG CGACGCGGTCTCTCTCTttagcgatacattttcaatcacatgctaataacaatacattaacttaaatTctgctttcccccaactctcccagtttaggaaacattgtaactgttcactAGAGGGAGACGGACGTCTCAATAAcggctaactgagAGATCGAGACCCGACGC chr8:27194166-Alternative-T;Patient-59 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Reference C caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CGTTAGTACGTT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcgttagtacgttAGATCGAGACCCGACGC chr8:27631995-Reference-C;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Reference C caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GAGGTACAAGTT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgaggtacaagttAGATCGAGACCCGACGC chr8:27631995-Reference-C;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Reference C caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CAGCGCTAGGTT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcagcgctaggttAGATCGAGACCCGACGC chr8:27631995-Reference-C;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative A caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GTCGAAGACCAC CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgtcgaagaccacAGATCGAGACCCGACGC chr8:27631995-Alternative-A;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Reference C caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GTGGCATCTATA CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgtggcatctataAGATCGAGACCCGACGC chr8:27631995-Reference-C;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative A caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CTAATAGTCGAC CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAActaatagtcgacAGATCGAGACCCGACGC chr8:27631995-Alternative-A;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Reference C caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GCGACGAATATA CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagCccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgcgacgaatataAGATCGAGACCCGACGC chr8:27631995-Reference-C;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative A caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CGACATACCTTC CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcgacataccttcAGATCGAGACCCGACGC chr8:27631995-Alternative-A;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative A caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CGGTATACATTC CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcggtatacattcAGATCGAGACCCGACGC chr8:27631995-Alternative-A;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative A caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct ACAACACGGTCC CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagAccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAacaacacggtccAGATCGAGACCCGACGC chr8:27631995-Alternative-A;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Variant T caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CTCGCGTCACTT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAActcgcgtcacttAGATCGAGACCCGACGC chr8:27631995-Variant-T;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative G caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GGCTTATTAACG CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAggcttattaacgAGATCGAGACCCGACGC chr8:27631995-Alternative-G;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Variant T caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CTAGTGCGAACG CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAActagtgcgaacgAGATCGAGACCCGACGC chr8:27631995-Variant-T;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Variant T caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GACTACTCGGCA CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgactactcggcaAGATCGAGACCCGACGC chr8:27631995-Variant-T;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Variant T caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct AACTAAGGTTCG CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAaactaaggttcgAGATCGAGACCCGACGC chr8:27631995-Variant-T;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Variant T caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CGACAGCATCGA CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagTccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcgacagcatcgaAGATCGAGACCCGACGC chr8:27631995-Variant-T;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative G caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct ACTCATTGCGAT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAactcattgcgatAGATCGAGACCCGACGC chr8:27631995-Alternative-G;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative G caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct CGGAGCACACAT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAcggagcacacatAGATCGAGACCCGACGC chr8:27631995-Alternative-G;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative G caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct GTGTTATCGAGT CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAgtgttatcgagtAGATCGAGACCCGACGC chr8:27631995-Alternative-G;Patient-61 chr8:27631995-CT Inherited Patient-61 intergenic NA 0.000201 0.52 9.57 -0.61 ESCO2 62 Alternative G caccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcct AAGTGTTCATCG CGACGCGGTCTCTCTCTcaccagggtgggcggggcaagggctggtgctccaccaatcaccgagccagGccctggaagcgctgagccgtggccaatcggaacgcagcggcttcctcctAGAGGGAGACGGACGTCTCAATAAaagtgttcatcgAGATCGAGACCCGACGC chr8:27631995-Alternative-G;Patient-61 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative T tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagta GATCCGTCGAGT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgatccgtcgagtAGATCGAGACCCGACGC chr8:28142180-Alternative-T;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative T tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagta AGCCGGCTTCTT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAagccggcttcttAGATCGAGACCCGACGC chr8:28142180-Alternative-T;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative T tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagta CGACGATCGGAA CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAcgacgatcggaaAGATCGAGACCCGACGC chr8:28142180-Alternative-T;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Reference A tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagta CTGAGAATCGGC CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAActgagaatcggcAGATCGAGACCCGACGC chr8:28142180-Reference-A;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative T tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagta ATAGATGCCGCG CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAatagatgccgcgAGATCGAGACCCGACGC chr8:28142180-Alternative-T;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Reference A tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagta CTACGGCTAACC CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAActacggctaaccAGATCGAGACCCGACGC chr8:28142180-Reference-A;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Reference A tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagta CGGCGGTAGTTA CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAcggcggtagttaAGATCGAGACCCGACGC chr8:28142180-Reference-A;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative T tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagta GGTTGACGACAG CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaTgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAggttgacgacagAGATCGAGACCCGACGC chr8:28142180-Alternative-T;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Reference A tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagta CACAGCTACATT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAcacagctacattAGATCGAGACCCGACGC chr8:28142180-Reference-A;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Variant G tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagta GCGGTTCTAATT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgcggttctaattAGATCGAGACCCGACGC chr8:28142180-Variant-G;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Reference A tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagta AAGCAGCATGAT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaAgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAaagcagcatgatAGATCGAGACCCGACGC chr8:28142180-Reference-A;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative C tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagta CTAACAACTGGT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAActaacaactggtAGATCGAGACCCGACGC chr8:28142180-Alternative-C;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative C tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagta GTCGTCTAGACG CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgtcgtctagacgAGATCGAGACCCGACGC chr8:28142180-Alternative-C;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative C tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagta ACACAGCGCGAA CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAacacagcgcgaaAGATCGAGACCCGACGC chr8:28142180-Alternative-C;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Variant G tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagta GCGATTCGTACG CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgcgattcgtacgAGATCGAGACCCGACGC chr8:28142180-Variant-G;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Variant G tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagta GATGCGTCGTGT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgatgcgtcgtgtAGATCGAGACCCGACGC chr8:28142180-Variant-G;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative C tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagta GTCGCTTGCATC CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgtcgcttgcatcAGATCGAGACCCGACGC chr8:28142180-Alternative-C;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Variant G tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagta GGCGGTTAGAGT CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAggcggttagagtAGATCGAGACCCGACGC chr8:28142180-Variant-G;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Alternative C tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagta ACGCTCCGTCTA CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaCgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAacgctccgtctaAGATCGAGACCCGACGC chr8:28142180-Alternative-C;Patient-88 chr8:28142180-AG DeNovo Patient-88 intergenic NA 0.000513 -0.04 2.02 0.24 PNOC 32468 Variant G tgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagta GCACGTTAACTA CGACGCGGTCTCTCTCTtgatgagtcagcagccatcaacatcaaggcaagaccttccaccagcaaaaGgattatgatttgctgaaggctcagatgattattagcatttttggcagtaAGAGGGAGACGGACGTCTCAATAAgcacgttaactaAGATCGAGACCCGACGC chr8:28142180-Variant-G;Patient-88 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Reference T catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CGTGAGAACTAA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAcgtgagaactaaAGATCGAGACCCGACGC chr8:28180345-Reference-T;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative A catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc AGCGTGTCGTGT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAagcgtgtcgtgtAGATCGAGACCCGACGC chr8:28180345-Alternative-A;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative A catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc AAGGTTCGCGAG CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAaaggttcgcgagAGATCGAGACCCGACGC chr8:28180345-Alternative-A;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Reference T catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc AACAACGTGCTT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAaacaacgtgcttAGATCGAGACCCGACGC chr8:28180345-Reference-T;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative A catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc ACGATAGGACGC CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAacgataggacgcAGATCGAGACCCGACGC chr8:28180345-Alternative-A;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Reference T catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc GGAGTCATCGCT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAggagtcatcgctAGATCGAGACCCGACGC chr8:28180345-Reference-T;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Reference T catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc ACACAGATCCGT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAacacagatccgtAGATCGAGACCCGACGC chr8:28180345-Reference-T;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative A catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CTTGACCGCGAA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAActtgaccgcgaaAGATCGAGACCCGACGC chr8:28180345-Alternative-A;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Variant C catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc ATAACAGCGAAC CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAataacagcgaacAGATCGAGACCCGACGC chr8:28180345-Variant-C;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Variant C catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CTGTTCATGCGG CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAActgttcatgcggAGATCGAGACCCGACGC chr8:28180345-Variant-C;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative G catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc AGCTATCCTTGT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAagctatccttgtAGATCGAGACCCGACGC chr8:28180345-Alternative-G;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative G catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CATGCTCGTTAT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAcatgctcgttatAGATCGAGACCCGACGC chr8:28180345-Alternative-G;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Reference T catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc GAGTAGGATGTT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaTaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAgagtaggatgttAGATCGAGACCCGACGC chr8:28180345-Reference-T;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative G catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CGAGTTGGAATC CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAcgagttggaatcAGATCGAGACCCGACGC chr8:28180345-Alternative-G;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative G catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc GATACTACGTCA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAgatactacgtcaAGATCGAGACCCGACGC chr8:28180345-Alternative-G;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Variant C catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc AGATCGCCGTGA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAagatcgccgtgaAGATCGAGACCCGACGC chr8:28180345-Variant-C;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Variant C catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc ACTTCTTGATCG CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAacttcttgatcgAGATCGAGACCCGACGC chr8:28180345-Variant-C;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative A catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc GCGATAATGCCA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaAaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAgcgataatgccaAGATCGAGACCCGACGC chr8:28180345-Alternative-A;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Alternative G catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc CACGTACTACTT CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaGaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAcacgtactacttAGATCGAGACCCGACGC chr8:28180345-Alternative-G;Patient-29 chr8:28180345-TC DeNovo Patient-29 intronic PNOC NA 0.00016 -0.08 1.56 -1.65 PNOC 5695 Variant C catggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttc GCAAGTTGATGA CGACGCGGTCTCTCTCTcatggtttgaagtcaacacacctgagtttaagtcctggctctgctacttaCaaaccggatgatcctagtcaacttgcttaacctctaagagtttatgttcAGAGGGAGACGGACGTCTCAATAAgcaagttgatgaAGATCGAGACCCGACGC chr8:28180345-Variant-C;Patient-29 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Variant T ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa ACGCTCATACTT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAacgctcatacttAGATCGAGACCCGACGC chr8:28395399-Variant-T;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative G ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CACGATCAGTAC CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcacgatcagtacAGATCGAGACCCGACGC chr8:28395399-Alternative-G;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Variant T ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa GGTCTGAGATAC CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAggtctgagatacAGATCGAGACCCGACGC chr8:28395399-Variant-T;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative A ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CAGTTATAGCGG CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcagttatagcggAGATCGAGACCCGACGC chr8:28395399-Alternative-A;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative G ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa ACTGTCGGCATA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAactgtcggcataAGATCGAGACCCGACGC chr8:28395399-Alternative-G;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative G ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa ATCGAGTAGCTT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAatcgagtagcttAGATCGAGACCCGACGC chr8:28395399-Alternative-G;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Reference C ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa AGCCGAACCTGA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAagccgaacctgaAGATCGAGACCCGACGC chr8:28395399-Reference-C;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Variant T ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CGGAGTGTAACG CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcggagtgtaacgAGATCGAGACCCGACGC chr8:28395399-Variant-T;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Variant T ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa GATAGCTATCGA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAgatagctatcgaAGATCGAGACCCGACGC chr8:28395399-Variant-T;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative G ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa ACCTAAGCGTTA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAacctaagcgttaAGATCGAGACCCGACGC chr8:28395399-Alternative-G;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative G ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CACGTCGCAGAT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcGgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcacgtcgcagatAGATCGAGACCCGACGC chr8:28395399-Alternative-G;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative A ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa GAGTCCTGGTCA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAgagtcctggtcaAGATCGAGACCCGACGC chr8:28395399-Alternative-A;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Reference C ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CAGCTCGCGATA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcagctcgcgataAGATCGAGACCCGACGC chr8:28395399-Reference-C;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Variant T ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa ACGAGCCTTATA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcTgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAacgagccttataAGATCGAGACCCGACGC chr8:28395399-Variant-T;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative A ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa GTTAGCGAATGT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAgttagcgaatgtAGATCGAGACCCGACGC chr8:28395399-Alternative-A;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Reference C ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa AGGTGGCTAATT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAaggtggctaattAGATCGAGACCCGACGC chr8:28395399-Reference-C;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative A ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa GACCGAGGTGAA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAgaccgaggtgaaAGATCGAGACCCGACGC chr8:28395399-Alternative-A;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Reference C ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa AGAACGGTCGAA CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAagaacggtcgaaAGATCGAGACCCGACGC chr8:28395399-Reference-C;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Reference C ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa AGTGTTAGGCGG CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcCgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAagtgttaggcggAGATCGAGACCCGACGC chr8:28395399-Reference-C;Patient-39 chr8:28395399-CT DeNovo Patient-39 intronic FZD3 NA 4.95e-05 -0.06 1.82 0.49 FZD3 43676 Alternative A ataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaa CATCGATGTGAT CGACGCGGTCTCTCTCTataggccaggcgtggtggctcacgcctgcgatcccagcactttgggaggcAgaggtcggcagatcacctgaggtcaggagttcaagactagcctgaccaaAGAGGGAGACGGACGTCTCAATAAcatcgatgtgatAGATCGAGACCCGACGC chr8:28395399-Alternative-A;Patient-39 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative C gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CATCTCGAACGC CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAcatctcgaacgcAGATCGAGACCCGACGC chr8:30190689-Alternative-C;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Reference G gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg GCATCTAAGCTT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAgcatctaagcttAGATCGAGACCCGACGC chr8:30190689-Reference-G;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Reference G gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg GTACCGAAGTAT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAgtaccgaagtatAGATCGAGACCCGACGC chr8:30190689-Reference-G;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Reference G gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg ATCTCGTTCTTC CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAatctcgttcttcAGATCGAGACCCGACGC chr8:30190689-Reference-G;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Reference G gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg ACCGATCGATAC CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAaccgatcgatacAGATCGAGACCCGACGC chr8:30190689-Reference-G;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Reference G gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg GGTTAGCAAGAT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacGcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAggttagcaagatAGATCGAGACCCGACGC chr8:30190689-Reference-G;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative C gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTCTGGCTTAAG CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActctggcttaagAGATCGAGACCCGACGC chr8:30190689-Alternative-C;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative C gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTGGTATGTACT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActggtatgtactAGATCGAGACCCGACGC chr8:30190689-Alternative-C;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative T gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg ACGACAACTCAT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAacgacaactcatAGATCGAGACCCGACGC chr8:30190689-Alternative-T;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative T gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg ACGATAAGGTCA CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAacgataaggtcaAGATCGAGACCCGACGC chr8:30190689-Alternative-T;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative C gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg AGCAGAATCAGT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAagcagaatcagtAGATCGAGACCCGACGC chr8:30190689-Alternative-C;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative C gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTACGCATCTAA CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacCcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActacgcatctaaAGATCGAGACCCGACGC chr8:30190689-Alternative-C;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative T gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg GCATCTACGGCA CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAgcatctacggcaAGATCGAGACCCGACGC chr8:30190689-Alternative-T;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Variant A gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg AACGGTCATCGC CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAaacggtcatcgcAGATCGAGACCCGACGC chr8:30190689-Variant-A;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative T gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTAGCGTTCCGA CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActagcgttccgaAGATCGAGACCCGACGC chr8:30190689-Alternative-T;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Alternative T gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg AGAGTACACCGC CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacTcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAagagtacaccgcAGATCGAGACCCGACGC chr8:30190689-Alternative-T;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Variant A gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTGAATAGACCA CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActgaatagaccaAGATCGAGACCCGACGC chr8:30190689-Variant-A;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Variant A gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg AAGGCAATAGCT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAaaggcaatagctAGATCGAGACCCGACGC chr8:30190689-Variant-A;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Variant A gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg CTCTGCCGGATT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAActctgccggattAGATCGAGACCCGACGC chr8:30190689-Variant-A;Patient-55 chr8:30190689-GA DeNovo Patient-55 intergenic 0.000415 0.000513 0.13 4.71 0.68 RBPMS 51327 Variant A gtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgagg GCAAGCGTGCTT CGACGCGGTCTCTCTCTgtggggacaacataagtaaagaagcaagatggccaggcacagtggctcacAcctgtaatcccaacattttgggaggccgaggcgggcagatgacctgaggAGAGGGAGACGGACGTCTCAATAAgcaagcgtgcttAGATCGAGACCCGACGC chr8:30190689-Variant-A;Patient-55 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative A gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa GCGCACAGATCA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAgcgcacagatcaAGATCGAGACCCGACGC chr8:30527268-Alternative-A;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative A gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CAAGTAAGCGCT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAcaagtaagcgctAGATCGAGACCCGACGC chr8:30527268-Alternative-A;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative A gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CGGCTGGTTAGT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAcggctggttagtAGATCGAGACCCGACGC chr8:30527268-Alternative-A;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative A gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CAACCGCCTACA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAcaaccgcctacaAGATCGAGACCCGACGC chr8:30527268-Alternative-A;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative C gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa ATCGGAGTTGAT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAatcggagttgatAGATCGAGACCCGACGC chr8:30527268-Alternative-C;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative C gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CTCTACGCGCAA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAActctacgcgcaaAGATCGAGACCCGACGC chr8:30527268-Alternative-C;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative C gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa GTTCGTTGTGAA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAgttcgttgtgaaAGATCGAGACCCGACGC chr8:30527268-Alternative-C;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative A gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AACGTTAGGAGA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatAgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAaacgttaggagaAGATCGAGACCCGACGC chr8:30527268-Alternative-A;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Reference T gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AAGACGTAGTCA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAaagacgtagtcaAGATCGAGACCCGACGC chr8:30527268-Reference-T;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Reference T gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa GTTCTGACGATA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAgttctgacgataAGATCGAGACCCGACGC chr8:30527268-Reference-T;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Reference T gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AGCGTACGACGA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAagcgtacgacgaAGATCGAGACCCGACGC chr8:30527268-Reference-T;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Reference T gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa ACCTGGAGCGTT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAacctggagcgttAGATCGAGACCCGACGC chr8:30527268-Reference-T;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Reference T gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa ATAACGAGGTGT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatTgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAataacgaggtgtAGATCGAGACCCGACGC chr8:30527268-Reference-T;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Variant G gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CGCCAATATCGC CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAcgccaatatcgcAGATCGAGACCCGACGC chr8:30527268-Variant-G;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Variant G gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa CAACGACGGTCA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAcaacgacggtcaAGATCGAGACCCGACGC chr8:30527268-Variant-G;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Variant G gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AGACCTAGCGAT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAagacctagcgatAGATCGAGACCCGACGC chr8:30527268-Variant-G;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Variant G gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa GCCTTCGTTACG CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAgccttcgttacgAGATCGAGACCCGACGC chr8:30527268-Variant-G;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Variant G gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AGCTATTCTCGT CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatGgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAagctattctcgtAGATCGAGACCCGACGC chr8:30527268-Variant-G;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative C gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa AACGCACGTACA CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAaacgcacgtacaAGATCGAGACCCGACGC chr8:30527268-Alternative-C;Patient-30 chr8:30527268-TG Inherited Patient-30 intergenic 0.000327 0.00154 NA NA NA GTF2E2 11529 Alternative C gcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaa GCCGAAGACAAG CGACGCGGTCTCTCTCTgcaggagaatggcatgaacccgggaggcagagcttgcagtgagccaagatCgcgccactgcactccagcctgggtgacagagtgagactctgtctcaaaaAGAGGGAGACGGACGTCTCAATAAgccgaagacaagAGATCGAGACCCGACGC chr8:30527268-Alternative-C;Patient-30 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Variant A aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt AAGCGGTCGAAT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaagcggtcgaatAGATCGAGACCCGACGC chr8:31409178-Variant-A;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Reference T aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CTCTCAAGTACC CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAActctcaagtaccAGATCGAGACCCGACGC chr8:31409178-Reference-T;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Reference T aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CTCGTTGAGCAT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAActcgttgagcatAGATCGAGACCCGACGC chr8:31409178-Reference-T;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Reference T aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GGATCTGTACTA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAggatctgtactaAGATCGAGACCCGACGC chr8:31409178-Reference-T;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Variant A aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CATAGACCGTCA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAcatagaccgtcaAGATCGAGACCCGACGC chr8:31409178-Variant-A;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative C aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CATAATCTGCGA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAcataatctgcgaAGATCGAGACCCGACGC chr8:31409178-Alternative-C;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative C aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CGATAATCCGTT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAcgataatccgttAGATCGAGACCCGACGC chr8:31409178-Alternative-C;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative G aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GGCGTAATTCTT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAggcgtaattcttAGATCGAGACCCGACGC chr8:31409178-Alternative-G;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative G aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GGTGCGAGTGAA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAggtgcgagtgaaAGATCGAGACCCGACGC chr8:31409178-Alternative-G;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Reference T aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt AAGACGTTCGCG CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaagacgttcgcgAGATCGAGACCCGACGC chr8:31409178-Reference-T;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Variant A aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GGTGTAAGGTTA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAggtgtaaggttaAGATCGAGACCCGACGC chr8:31409178-Variant-A;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative C aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt ACCGTTATTAGG CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaccgttattaggAGATCGAGACCCGACGC chr8:31409178-Alternative-C;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative G aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GAATCGACTCAT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAgaatcgactcatAGATCGAGACCCGACGC chr8:31409178-Alternative-G;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Reference T aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt AAGTGCGCTGCA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaTcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaagtgcgctgcaAGATCGAGACCCGACGC chr8:31409178-Reference-T;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Variant A aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt AAGTGGCTACTA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaagtggctactaAGATCGAGACCCGACGC chr8:31409178-Variant-A;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative G aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt ACACGACGTCCA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAacacgacgtccaAGATCGAGACCCGACGC chr8:31409178-Alternative-G;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative G aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt AATCAAGGTGGT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaGcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAaatcaaggtggtAGATCGAGACCCGACGC chr8:31409178-Alternative-G;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Variant A aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt CTTGACGACGAC CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaAcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAActtgacgacgacAGATCGAGACCCGACGC chr8:31409178-Variant-A;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative C aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GCCAATCCGGAA CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAgccaatccggaaAGATCGAGACCCGACGC chr8:31409178-Alternative-C;Patient-54 chr8:31409178-TA Inherited Patient-54 intergenic NA 0.000513 -0.2 0.71 -1.58 NRG1 87641 Alternative C aatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgatt GTAGGATCTTGT CGACGCGGTCTCTCTCTaatcatggttttaagaatccttattgtaactatgacaataaaagactgcaCcatcttttaaaatcttcttgagattaacaatcaagtctcatgatcgattAGAGGGAGACGGACGTCTCAATAAgtaggatcttgtAGATCGAGACCCGACGC chr8:31409178-Alternative-C;Patient-54 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Variant T ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GGTAAGCATCGC CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAggtaagcatcgcAGATCGAGACCCGACGC chr8:31501306-Variant-T;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Variant T ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GGTCTGATTCTA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAggtctgattctaAGATCGAGACCCGACGC chr8:31501306-Variant-T;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Variant T ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc ATCGTAAGCAGA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAatcgtaagcagaAGATCGAGACCCGACGC chr8:31501306-Variant-T;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative G ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GCGTAGCCGTAA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgcgtagccgtaaAGATCGAGACCCGACGC chr8:31501306-Alternative-G;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Variant T ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc AGCTTAGTCGCG CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAagcttagtcgcgAGATCGAGACCCGACGC chr8:31501306-Variant-T;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative A ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CTAATTCTGTGC CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAActaattctgtgcAGATCGAGACCCGACGC chr8:31501306-Alternative-A;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative G ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc AACACATTCGTC CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAaacacattcgtcAGATCGAGACCCGACGC chr8:31501306-Alternative-G;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative A ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GCACGGAATATA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgcacggaatataAGATCGAGACCCGACGC chr8:31501306-Alternative-A;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Variant T ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CTCTCTTAGCGG CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaTacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAActctcttagcggAGATCGAGACCCGACGC chr8:31501306-Variant-T;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative A ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc ACTCTGCGCGAA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAactctgcgcgaaAGATCGAGACCCGACGC chr8:31501306-Alternative-A;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Reference C ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CGTTGAGCATCG CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAcgttgagcatcgAGATCGAGACCCGACGC chr8:31501306-Reference-C;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative A ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GTACGGATCCAT CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgtacggatccatAGATCGAGACCCGACGC chr8:31501306-Alternative-A;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative A ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc AGCTTCTATGGT CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaAacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAagcttctatggtAGATCGAGACCCGACGC chr8:31501306-Alternative-A;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Reference C ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc AGGTTGATGAGT CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAaggttgatgagtAGATCGAGACCCGACGC chr8:31501306-Reference-C;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Reference C ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CAGGAGCGCTAA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAcaggagcgctaaAGATCGAGACCCGACGC chr8:31501306-Reference-C;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Reference C ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CTAACTGCGTGA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAActaactgcgtgaAGATCGAGACCCGACGC chr8:31501306-Reference-C;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative G ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GCATATAGCCGG CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgcatatagccggAGATCGAGACCCGACGC chr8:31501306-Alternative-G;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Reference C ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GCGTACGGTAGA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaCacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgcgtacggtagaAGATCGAGACCCGACGC chr8:31501306-Reference-C;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative G ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc GTGCTAGGTTAT CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAAgtgctaggttatAGATCGAGACCCGACGC chr8:31501306-Alternative-G;Patient-89 chr8:31501306-CT DeNovo Patient-89 intronic NRG1 NA 4.95e-05 0 2.69 -1.8 NRG1 4485 Alternative G ctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttc CTGGTGTAGTTA CGACGCGGTCTCTCTCTctgtccgattaaatctctattattcaaacaagtcattgtttgatgtgctaGacttttagcttccaaagcattgtggttatatgaggcagaagctgatttcAGAGGGAGACGGACGTCTCAATAActggtgtagttaAGATCGAGACCCGACGC chr8:31501306-Alternative-G;Patient-89 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Reference G ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataag CAGTTGCGTCAC CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcagttgcgtcacAGATCGAGACCCGACGC chr8:37503150-Reference-G;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Reference G ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataag ACGAGCATGATA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAacgagcatgataAGATCGAGACCCGACGC chr8:37503150-Reference-G;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Reference G ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataag CTCGGCAATAGT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAActcggcaatagtAGATCGAGACCCGACGC chr8:37503150-Reference-G;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative T ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataag ACCACGTCAACG CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAaccacgtcaacgAGATCGAGACCCGACGC chr8:37503150-Alternative-T;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Reference G ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataag AGGTGATACAGT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAaggtgatacagtAGATCGAGACCCGACGC chr8:37503150-Reference-G;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Reference G ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataag GACGAGGTAGAT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtGacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAgacgaggtagatAGATCGAGACCCGACGC chr8:37503150-Reference-G;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative T ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataag ACACAGACTCGT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAacacagactcgtAGATCGAGACCCGACGC chr8:37503150-Alternative-T;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative T ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataag AGCAGCACACGA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAagcagcacacgaAGATCGAGACCCGACGC chr8:37503150-Alternative-T;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Variant A ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataag CGGACGTGAGAA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcggacgtgagaaAGATCGAGACCCGACGC chr8:37503150-Variant-A;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative T ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataag GTCGCGGACTTA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAgtcgcggacttaAGATCGAGACCCGACGC chr8:37503150-Alternative-T;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative T ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataag AGCAACCAGCGA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtTacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAagcaaccagcgaAGATCGAGACCCGACGC chr8:37503150-Alternative-T;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Variant A ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataag CAGCACGTAAGT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcagcacgtaagtAGATCGAGACCCGACGC chr8:37503150-Variant-A;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Variant A ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataag GTTACTGTGCGG CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAgttactgtgcggAGATCGAGACCCGACGC chr8:37503150-Variant-A;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Variant A ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataag GCGGATATTGAT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAgcggatattgatAGATCGAGACCCGACGC chr8:37503150-Variant-A;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Variant A ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataag ATAGATAGTCGG CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtAacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAatagatagtcggAGATCGAGACCCGACGC chr8:37503150-Variant-A;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative C ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataag AGTAATCGAGGT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAagtaatcgaggtAGATCGAGACCCGACGC chr8:37503150-Alternative-C;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative C ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataag CGGATTCCGGAA CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcggattccggaaAGATCGAGACCCGACGC chr8:37503150-Alternative-C;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative C ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataag CGTATCAGAGAT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcgtatcagagatAGATCGAGACCCGACGC chr8:37503150-Alternative-C;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative C ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataag CGCACTTCGGTT CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAcgcacttcggttAGATCGAGACCCGACGC chr8:37503150-Alternative-C;Patient-55 chr8:37503150-GA Inherited Patient-55 intergenic NA 0.000512821 -0.5 0.09 -0.84 ERLIN2 90946 Alternative C ggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataag AGCTGTGTCACG CGACGCGGTCTCTCTCTggagaatcgcttgaacctgggaggtagaggttgcagtgagtcaagatcgtCacactgcactccagcctcggtgacagagtgagactccatctcaaataagAGAGGGAGACGGACGTCTCAATAAagctgtgtcacgAGATCGAGACCCGACGC chr8:37503150-Alternative-C;Patient-55 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative T catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatag GACAGTCGGCAA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgacagtcggcaaAGATCGAGACCCGACGC chr8:38062900-Alternative-T;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative T catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatag GCAGCGGAATGT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgcagcggaatgtAGATCGAGACCCGACGC chr8:38062900-Alternative-T;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Reference A catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatag CGACTGTGTGGT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAcgactgtgtggtAGATCGAGACCCGACGC chr8:38062900-Reference-A;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Reference A catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatag GAATAAGTTCGC CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgaataagttcgcAGATCGAGACCCGACGC chr8:38062900-Reference-A;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Reference A catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatag CTCTCGGCTTCT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAActctcggcttctAGATCGAGACCCGACGC chr8:38062900-Reference-A;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative T catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatag CTCATACGCTAA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAActcatacgctaaAGATCGAGACCCGACGC chr8:38062900-Alternative-T;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Reference A catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatag GCCGATGTAACT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgccgatgtaactAGATCGAGACCCGACGC chr8:38062900-Reference-A;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative T catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatag CGTGACGGTATC CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAcgtgacggtatcAGATCGAGACCCGACGC chr8:38062900-Alternative-T;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Variant G catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatag ACGACCGTTACA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAacgaccgttacaAGATCGAGACCCGACGC chr8:38062900-Variant-G;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Reference A catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatag AAGGCCGCTAAC CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaAttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAaaggccgctaacAGATCGAGACCCGACGC chr8:38062900-Reference-A;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative T catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatag CAAGTTCCAGCA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaTttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAcaagttccagcaAGATCGAGACCCGACGC chr8:38062900-Alternative-T;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Variant G catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatag AGCAATCTGTCA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAagcaatctgtcaAGATCGAGACCCGACGC chr8:38062900-Variant-G;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative C catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatag AGTACCTCGACC CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAagtacctcgaccAGATCGAGACCCGACGC chr8:38062900-Alternative-C;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative C catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatag AGCGGAGCCTAT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAagcggagcctatAGATCGAGACCCGACGC chr8:38062900-Alternative-C;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative C catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatag ACATCGCTAGAA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAacatcgctagaaAGATCGAGACCCGACGC chr8:38062900-Alternative-C;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative C catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatag ACTATCTGCGGC CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAactatctgcggcAGATCGAGACCCGACGC chr8:38062900-Alternative-C;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Variant G catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatag GTTATCTCGCAT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgttatctcgcatAGATCGAGACCCGACGC chr8:38062900-Variant-G;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Alternative C catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatag ATCGTGACGTAA CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaCttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAatcgtgacgtaaAGATCGAGACCCGACGC chr8:38062900-Alternative-C;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Variant G catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatag GCGTAGCATGGT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAgcgtagcatggtAGATCGAGACCCGACGC chr8:38062900-Variant-G;Patient-21 chr8:38062900-AG DeNovo Patient-21 intronic BAG4 3.2e-05 4.95e-05 -0.4 0.18 -2.46 DDHD2 26108 Variant G catgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatag ACCGTTACGCGT CGACGCGGTCTCTCTCTcatgagtctgtgcgcctagccataacaataaaatttgaagactgaatacaGttttttcaatgaatagtctttaatctacttaaagattccattgttatagAGAGGGAGACGGACGTCTCAATAAaccgttacgcgtAGATCGAGACCCGACGC chr8:38062900-Variant-G;Patient-21 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative G aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GATATTCGTCCT CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgatattcgtcctAGATCGAGACCCGACGC chr8:38335791-Alternative-G;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative G aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat ACAACCACAGCT CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAacaaccacagctAGATCGAGACCCGACGC chr8:38335791-Alternative-G;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative G aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GTATCTTAACGC CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgtatcttaacgcAGATCGAGACCCGACGC chr8:38335791-Alternative-G;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative G aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat ACTCACGAGCTA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAactcacgagctaAGATCGAGACCCGACGC chr8:38335791-Alternative-G;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Reference C aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat AAGACCTCGACC CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAaagacctcgaccAGATCGAGACCCGACGC chr8:38335791-Reference-C;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative A aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GCCAAGAACGCA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgccaagaacgcaAGATCGAGACCCGACGC chr8:38335791-Alternative-A;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative G aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GGTTCAAGATGA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttGagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAggttcaagatgaAGATCGAGACCCGACGC chr8:38335791-Alternative-G;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Reference C aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat AACGCACTCGCA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAaacgcactcgcaAGATCGAGACCCGACGC chr8:38335791-Reference-C;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative A aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GGTTAGCATATC CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAggttagcatatcAGATCGAGACCCGACGC chr8:38335791-Alternative-A;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Reference C aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GCGAACTTGACG CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgcgaacttgacgAGATCGAGACCCGACGC chr8:38335791-Reference-C;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Reference C aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GTACTTGCATGA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgtacttgcatgaAGATCGAGACCCGACGC chr8:38335791-Reference-C;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Reference C aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat CTATCGGCTACC CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttCagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAActatcggctaccAGATCGAGACCCGACGC chr8:38335791-Reference-C;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative A aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat AGTAAGCGTAAG CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAagtaagcgtaagAGATCGAGACCCGACGC chr8:38335791-Alternative-A;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Variant T aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat ATACGCTCGATA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAatacgctcgataAGATCGAGACCCGACGC chr8:38335791-Variant-T;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative A aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GTTGGACATGTT CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgttggacatgttAGATCGAGACCCGACGC chr8:38335791-Alternative-A;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Variant T aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat CTACGACGAATC CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAActacgacgaatcAGATCGAGACCCGACGC chr8:38335791-Variant-T;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Alternative A aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat CAGGATACTGAT CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttAagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAcaggatactgatAGATCGAGACCCGACGC chr8:38335791-Alternative-A;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Variant T aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GTTAATACGCGA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgttaatacgcgaAGATCGAGACCCGACGC chr8:38335791-Variant-T;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Variant T aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat GCCGGATTGGAA CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAAgccggattggaaAGATCGAGACCCGACGC chr8:38335791-Variant-T;Patient-92 chr8:38335791-CT Inherited Patient-92 intergenic 0.000255 0.00103 0.41 8.52 0 FGFR1 9438 Variant T aaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtat CTTGTCTACGAT CGACGCGGTCTCTCTCTaaaaatcctattgctgttagaaattatgctaaatctactctgcttgtgttTagtaaatggcataactaagcctgaatgacagcacatctgtttacagtatAGAGGGAGACGGACGTCTCAATAActtgtctacgatAGATCGAGACCCGACGC chr8:38335791-Variant-T;Patient-92 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative T cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat ATACGCGCGCTT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAatacgcgcgcttAGATCGAGACCCGACGC chr8:38339489-Alternative-T;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Reference G cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CGTCACGCAAGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAcgtcacgcaagtAGATCGAGACCCGACGC chr8:38339489-Reference-G;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative C cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CGTGCTCTTATA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAcgtgctcttataAGATCGAGACCCGACGC chr8:38339489-Alternative-C;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative T cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GATAGCTGTGAA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgatagctgtgaaAGATCGAGACCCGACGC chr8:38339489-Alternative-T;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Variant A cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GGTCGCGTGTTA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAggtcgcgtgttaAGATCGAGACCCGACGC chr8:38339489-Variant-A;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Variant A cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GCGAGTCTGAGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgcgagtctgagtAGATCGAGACCCGACGC chr8:38339489-Variant-A;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative T cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CAACGTCGAATC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAcaacgtcgaatcAGATCGAGACCCGACGC chr8:38339489-Alternative-T;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Variant A cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat AACGCTTACGGC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAaacgcttacggcAGATCGAGACCCGACGC chr8:38339489-Variant-A;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Reference G cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GAATCGTCTTCT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgaatcgtcttctAGATCGAGACCCGACGC chr8:38339489-Reference-G;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Variant A cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GCGTCGCTAACT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgcgtcgctaactAGATCGAGACCCGACGC chr8:38339489-Variant-A;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative T cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GATATGTCGTCA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgatatgtcgtcaAGATCGAGACCCGACGC chr8:38339489-Alternative-T;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Reference G cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GTTCTGCAACGG CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgttctgcaacggAGATCGAGACCCGACGC chr8:38339489-Reference-G;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative C cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CTGCATACGGAC CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAActgcatacggacAGATCGAGACCCGACGC chr8:38339489-Alternative-C;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Reference G cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GCACGTTAAGTT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgcacgttaagttAGATCGAGACCCGACGC chr8:38339489-Reference-G;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Variant A cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat ACGCGCGATTCT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccAgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAacgcgcgattctAGATCGAGACCCGACGC chr8:38339489-Variant-A;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative T cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CGAGGTGGATGT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccTgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAcgaggtggatgtAGATCGAGACCCGACGC chr8:38339489-Alternative-T;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Reference G cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat ATATACCGCGAT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccGgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAatataccgcgatAGATCGAGACCCGACGC chr8:38339489-Reference-G;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative C cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GACATCCAACCT CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAgacatccaacctAGATCGAGACCCGACGC chr8:38339489-Alternative-C;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative C cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat CGTGAACATCCA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAcgtgaacatccaAGATCGAGACCCGACGC chr8:38339489-Alternative-C;Patient-32 chr8:38339489-GA DeNovo Patient-32 intergenic 3.3e-05 0.000513 -0.05 2 0.19 FGFR1 13136 Alternative C cacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgat GGCCGGATCATA CGACGCGGTCTCTCTCTcacctcggcctcccaaagtgctgagattacaggcatgagccaccttgcccCgcctttcagaatttttagtagaggagcaaggggtaggtagtcttctgatAGAGGGAGACGGACGTCTCAATAAggccggatcataAGATCGAGACCCGACGC chr8:38339489-Alternative-C;Patient-32 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative C tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa CGACCGTATTCT CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAcgaccgtattctAGATCGAGACCCGACGC chr8:39890056-Alternative-C;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Reference G tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa GCAACGGCTGAA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAgcaacggctgaaAGATCGAGACCCGACGC chr8:39890056-Reference-G;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Variant A tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa AGCGCTGACATC CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAagcgctgacatcAGATCGAGACCCGACGC chr8:39890056-Variant-A;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Reference G tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ATCCGGAGATAA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAatccggagataaAGATCGAGACCCGACGC chr8:39890056-Reference-G;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Reference G tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ATTGACGCGTCG CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAattgacgcgtcgAGATCGAGACCCGACGC chr8:39890056-Reference-G;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative C tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ACACGTTGCGGT CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAacacgttgcggtAGATCGAGACCCGACGC chr8:39890056-Alternative-C;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative T tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa CTACAATGGTTC CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAActacaatggttcAGATCGAGACCCGACGC chr8:39890056-Alternative-T;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative C tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa CGCGCATGTCTA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAcgcgcatgtctaAGATCGAGACCCGACGC chr8:39890056-Alternative-C;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Variant A tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa GATTCGGAGGAC CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAgattcggaggacAGATCGAGACCCGACGC chr8:39890056-Variant-A;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Reference G tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa GTTAGAAGCTGA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAgttagaagctgaAGATCGAGACCCGACGC chr8:39890056-Reference-G;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Reference G tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa CGAATCGCAATT CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaGcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAcgaatcgcaattAGATCGAGACCCGACGC chr8:39890056-Reference-G;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative C tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa AGACGGTAATCA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAagacggtaatcaAGATCGAGACCCGACGC chr8:39890056-Alternative-C;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Variant A tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa GAGAGTCCTTAT CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAgagagtccttatAGATCGAGACCCGACGC chr8:39890056-Variant-A;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Variant A tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa GATATGGCTCTA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAgatatggctctaAGATCGAGACCCGACGC chr8:39890056-Variant-A;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative T tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ACGCTTCTAGAT CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAacgcttctagatAGATCGAGACCCGACGC chr8:39890056-Alternative-T;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative C tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ACTACCAAGCGG CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaCcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAactaccaagcggAGATCGAGACCCGACGC chr8:39890056-Alternative-C;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Variant A tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ATCCTAGGTACA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaAcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAatcctaggtacaAGATCGAGACCCGACGC chr8:39890056-Variant-A;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative T tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ATCTGCTATCGA CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAatctgctatcgaAGATCGAGACCCGACGC chr8:39890056-Alternative-T;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative T tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa ATATATCGACGG CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAatatatcgacggAGATCGAGACCCGACGC chr8:39890056-Alternative-T;Patient-15 chr8:39890056-GA DeNovo Patient-15 intergenic 6.4e-05 3.92e-05 1.82 17.62 1.97 IDO2 97581 Alternative T tttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaa CGTGTGTTGGAC CGACGCGGTCTCTCTCTtttagcatctgcttcacagtaacattaaaaaactgagttcttgagtgtaaTcatcatcaaaaataaatgcttttgttttgcaaagtaatttcctttgtaaAGAGGGAGACGGACGTCTCAATAAcgtgtgttggacAGATCGAGACCCGACGC chr8:39890056-Alternative-T;Patient-15 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative T ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttc AACCACGATCGG CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAaaccacgatcggAGATCGAGACCCGACGC chr8:41159761-Alternative-T;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Reference G ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttc AACTAAGGTCGA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAaactaaggtcgaAGATCGAGACCCGACGC chr8:41159761-Reference-G;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Reference G ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttc GGTGCGTTGGTT CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAggtgcgttggttAGATCGAGACCCGACGC chr8:41159761-Reference-G;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Reference G ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttc AGCTTAATCACG CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAagcttaatcacgAGATCGAGACCCGACGC chr8:41159761-Reference-G;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative T ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttc ACAAGATGCTGA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAacaagatgctgaAGATCGAGACCCGACGC chr8:41159761-Alternative-T;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative C ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttc CGTCACAGTGCT CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAcgtcacagtgctAGATCGAGACCCGACGC chr8:41159761-Alternative-C;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative T ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttc CATGTGGTTCGG CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAcatgtggttcggAGATCGAGACCCGACGC chr8:41159761-Alternative-T;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Reference G ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttc GTATTCTACAGG CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAgtattctacaggAGATCGAGACCCGACGC chr8:41159761-Reference-G;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative C ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttc AGTCGAATGCGC CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAagtcgaatgcgcAGATCGAGACCCGACGC chr8:41159761-Alternative-C;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative T ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttc GTAACAGCTGAA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAgtaacagctgaaAGATCGAGACCCGACGC chr8:41159761-Alternative-T;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Reference G ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttc GTACCGGTTGGT CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacGcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAgtaccggttggtAGATCGAGACCCGACGC chr8:41159761-Reference-G;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative T ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttc ATCTTACCTGGT CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacTcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAatcttacctggtAGATCGAGACCCGACGC chr8:41159761-Alternative-T;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Variant A ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttc CTCTTGGCACGT CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAActcttggcacgtAGATCGAGACCCGACGC chr8:41159761-Variant-A;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Variant A ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttc CAGTATATCCGA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAcagtatatccgaAGATCGAGACCCGACGC chr8:41159761-Variant-A;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative C ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttc AGGTGAACTTGA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAaggtgaacttgaAGATCGAGACCCGACGC chr8:41159761-Alternative-C;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Variant A ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttc ACGATATGCGGC CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAacgatatgcggcAGATCGAGACCCGACGC chr8:41159761-Variant-A;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Variant A ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttc CGTGACGGTAGA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAcgtgacggtagaAGATCGAGACCCGACGC chr8:41159761-Variant-A;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Variant A ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttc GTCGGCTGTAAC CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacAcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAgtcggctgtaacAGATCGAGACCCGACGC chr8:41159761-Variant-A;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative C ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttc GGACACCATCAA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAggacaccatcaaAGATCGAGACCCGACGC chr8:41159761-Alternative-C;Patient-1 chr8:41159761-GA DeNovo Patient-1 intronic SFRP1 6.4e-05 4.95e-05 -0.7 0.02 -2.15 SFRP1 7228 Alternative C ctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttc AATGTTCGGTCA CGACGCGGTCTCTCTCTctgcatcacagagaacacatcaatcttccccatgcatggaaacaggatacCcgctctccagtttagctctggtggccatctacatccagcttccatcttcAGAGGGAGACGGACGTCTCAATAAaatgttcggtcaAGATCGAGACCCGACGC chr8:41159761-Alternative-C;Patient-1 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Reference C agatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatga GCGCAAGAACCT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgcgcaagaacctAGATCGAGACCCGACGC chr8:41416059-Reference-C;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative T agatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatga CGTTCTTATGCA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAcgttcttatgcaAGATCGAGACCCGACGC chr8:41416059-Alternative-T;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative G agatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatga ACTGCGCTGAGA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAactgcgctgagaAGATCGAGACCCGACGC chr8:41416059-Alternative-G;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative G agatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatga GTAGAGCTAGAT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgtagagctagatAGATCGAGACCCGACGC chr8:41416059-Alternative-G;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative G agatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatga ACTCGCGCACAT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAactcgcgcacatAGATCGAGACCCGACGC chr8:41416059-Alternative-G;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Variant A agatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatga GATATGAGAGCT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgatatgagagctAGATCGAGACCCGACGC chr8:41416059-Variant-A;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Reference C agatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatga GGTGAATGCGAC CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAggtgaatgcgacAGATCGAGACCCGACGC chr8:41416059-Reference-C;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Variant A agatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatga GAATCGTAGGAT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgaatcgtaggatAGATCGAGACCCGACGC chr8:41416059-Variant-A;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative G agatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatga CAACGTAGTAAG CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAcaacgtagtaagAGATCGAGACCCGACGC chr8:41416059-Alternative-G;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative T agatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatga ACATAGCGCGAT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAacatagcgcgatAGATCGAGACCCGACGC chr8:41416059-Alternative-T;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Reference C agatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatga CTTGTCCTAGGT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAActtgtcctaggtAGATCGAGACCCGACGC chr8:41416059-Reference-C;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Reference C agatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatga GAATTGGACGGC CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgaattggacggcAGATCGAGACCCGACGC chr8:41416059-Reference-C;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Variant A agatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatga AGGTAGCAAGAA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAaggtagcaagaaAGATCGAGACCCGACGC chr8:41416059-Variant-A;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative G agatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatga ACGTGTTAAGTC CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatGtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAacgtgttaagtcAGATCGAGACCCGACGC chr8:41416059-Alternative-G;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative T agatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatga CGGACATGGCTT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAcggacatggcttAGATCGAGACCCGACGC chr8:41416059-Alternative-T;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative T agatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatga CGTCTTCGTGCA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAcgtcttcgtgcaAGATCGAGACCCGACGC chr8:41416059-Alternative-T;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Variant A agatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatga ATCTGTTCGAGA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAatctgttcgagaAGATCGAGACCCGACGC chr8:41416059-Variant-A;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Variant A agatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatga GACCTACAGATT CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatAtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgacctacagattAGATCGAGACCCGACGC chr8:41416059-Variant-A;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Alternative T agatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatga CGGCTGTTAACG CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatTtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAcggctgttaacgAGATCGAGACCCGACGC chr8:41416059-Alternative-T;Patient-88 chr8:41416059-CA DeNovo Patient-88 intergenic 0.000174 0.111 -0.09 1.52 0 GINS4 29333 Reference C agatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatga GACGTATAGTCA CGACGCGGTCTCTCTCTagatatatatatgagatctatagatctcatatgagatatatatatgagatCtatagatctcatatgagatatatatatgagatctatagatctcatatgaAGAGGGAGACGGACGTCTCAATAAgacgtatagtcaAGATCGAGACCCGACGC chr8:41416059-Reference-C;Patient-88 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Reference G ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GACTATGGTTCA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgactatggttcaAGATCGAGACCCGACGC chr8:41503038-Reference-G;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative T ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GGTCTTGAGTCG CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAggtcttgagtcgAGATCGAGACCCGACGC chr8:41503038-Alternative-T;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Reference G ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AATCGACGAGTT CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAaatcgacgagttAGATCGAGACCCGACGC chr8:41503038-Reference-G;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Variant A ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GTATCGTGGCTT CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgtatcgtggcttAGATCGAGACCCGACGC chr8:41503038-Variant-A;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative T ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AGGTTGTCGTGC CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAaggttgtcgtgcAGATCGAGACCCGACGC chr8:41503038-Alternative-T;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative T ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt CTGCGGTTAATA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAActgcggttaataAGATCGAGACCCGACGC chr8:41503038-Alternative-T;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Variant A ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GATCACGACAAC CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgatcacgacaacAGATCGAGACCCGACGC chr8:41503038-Variant-A;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative T ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GTCATACGGTCG CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgtcatacggtcgAGATCGAGACCCGACGC chr8:41503038-Alternative-T;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Variant A ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GTAGTATACGTC CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgtagtatacgtcAGATCGAGACCCGACGC chr8:41503038-Variant-A;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Variant A ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AGGTTGCTAGAA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAaggttgctagaaAGATCGAGACCCGACGC chr8:41503038-Variant-A;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative T ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt CTAATCGAGTCA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccTttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAActaatcgagtcaAGATCGAGACCCGACGC chr8:41503038-Alternative-T;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative C ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt CGGCGAGAGTAA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAcggcgagagtaaAGATCGAGACCCGACGC chr8:41503038-Alternative-C;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative C ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GGTCTGGCGTTA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAggtctggcgttaAGATCGAGACCCGACGC chr8:41503038-Alternative-C;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Reference G ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt ATAGCGCAATCA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAatagcgcaatcaAGATCGAGACCCGACGC chr8:41503038-Reference-G;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative C ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AGCTCGCTCGAA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAagctcgctcgaaAGATCGAGACCCGACGC chr8:41503038-Alternative-C;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Variant A ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt ATCGTTCTGTCA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccAttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAatcgttctgtcaAGATCGAGACCCGACGC chr8:41503038-Variant-A;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative C ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AGCTGTGTCGGT CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAagctgtgtcggtAGATCGAGACCCGACGC chr8:41503038-Alternative-C;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Reference G ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GTCCGGCAGTAT CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgtccggcagtatAGATCGAGACCCGACGC chr8:41503038-Reference-G;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Alternative C ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt AGACCGCATTCA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccCttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAagaccgcattcaAGATCGAGACCCGACGC chr8:41503038-Alternative-C;Patient-8 chr8:41503038-GA DeNovo Patient-8 intergenic 3.2e-05 0.000513 0.24 6.41 2.02 GPAT4 67330 Reference G ccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgcttt GACGAACGCGAA CGACGCGGTCTCTCTCTccagccggaggggctgtccttctcccttcctgccttgttggaggggtgccGttctggggtctttcccagcccttcctttcctccccaggtgggatgctttAGAGGGAGACGGACGTCTCAATAAgacgaacgcgaaAGATCGAGACCCGACGC chr8:41503038-Reference-G;Patient-8 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Variant A cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CGTACTATAGGT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAcgtactataggtAGATCGAGACCCGACGC chr8:41997872-Variant-A;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative T cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GTAGCTAATGCT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAgtagctaatgctAGATCGAGACCCGACGC chr8:41997872-Alternative-T;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative T cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CGAACTTCGTGG CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAcgaacttcgtggAGATCGAGACCCGACGC chr8:41997872-Alternative-T;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Variant A cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GTTAGGATATGG CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAgttaggatatggAGATCGAGACCCGACGC chr8:41997872-Variant-A;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Variant A cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CACACAACCGAC CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAcacacaaccgacAGATCGAGACCCGACGC chr8:41997872-Variant-A;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative T cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GGAGATGATGTT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAggagatgatgttAGATCGAGACCCGACGC chr8:41997872-Alternative-T;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative T cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CTTGGTCATCTA CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAActtggtcatctaAGATCGAGACCCGACGC chr8:41997872-Alternative-T;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Reference G cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CAGACGTAAGAA CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAcagacgtaagaaAGATCGAGACCCGACGC chr8:41997872-Reference-G;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Reference G cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg ATAGGACGACGC CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAataggacgacgcAGATCGAGACCCGACGC chr8:41997872-Reference-G;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative T cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AGGCTTGAGTAA CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatTcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAaggcttgagtaaAGATCGAGACCCGACGC chr8:41997872-Alternative-T;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Reference G cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AATGACCGTATC CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAaatgaccgtatcAGATCGAGACCCGACGC chr8:41997872-Reference-G;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Reference G cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AACGCGACGTTC CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAaacgcgacgttcAGATCGAGACCCGACGC chr8:41997872-Reference-G;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative C cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GTGATAGCGTGG CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAgtgatagcgtggAGATCGAGACCCGACGC chr8:41997872-Alternative-C;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Reference G cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AGCTTATCGGCG CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatGcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAagcttatcggcgAGATCGAGACCCGACGC chr8:41997872-Reference-G;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative C cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GACAAGGTTAGA CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAgacaaggttagaAGATCGAGACCCGACGC chr8:41997872-Alternative-C;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative C cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg CAAGTCGAGTAT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAcaagtcgagtatAGATCGAGACCCGACGC chr8:41997872-Alternative-C;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Variant A cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AGGTGTTGGATA CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAaggtgttggataAGATCGAGACCCGACGC chr8:41997872-Variant-A;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Variant A cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg ACTGGCGACTAT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatAcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAactggcgactatAGATCGAGACCCGACGC chr8:41997872-Variant-A;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative C cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg GAGCATGTGAAT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAgagcatgtgaatAGATCGAGACCCGACGC chr8:41997872-Alternative-C;Patient-61 chr8:41997872-GA Inherited Patient-61 intergenic 0.000734 0.00032 0.56 9.94 3.99 PLAT 67321 Alternative C cgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccgg AATCGTACCTGT CGACGCGGTCTCTCTCTcgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatCcctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggAGAGGGAGACGGACGTCTCAATAAaatcgtacctgtAGATCGAGACCCGACGC chr8:41997872-Alternative-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative G gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GAAGATTCCGTC CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgaagattccgtcAGATCGAGACCCGACGC chr8:41997873-Alternative-G;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Reference C gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CTCGCGACATCA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAActcgcgacatcaAGATCGAGACCCGACGC chr8:41997873-Reference-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Reference C gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GCAATCTATCGC CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgcaatctatcgcAGATCGAGACCCGACGC chr8:41997873-Reference-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Reference C gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt ACAATATCCGGT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAacaatatccggtAGATCGAGACCCGACGC chr8:41997873-Reference-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative G gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt AACCGCCGACTA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAaaccgccgactaAGATCGAGACCCGACGC chr8:41997873-Alternative-G;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Reference C gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CGTCTGGTTCCA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAcgtctggttccaAGATCGAGACCCGACGC chr8:41997873-Reference-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Reference C gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GACATGGACGGT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgCctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgacatggacggtAGATCGAGACCCGACGC chr8:41997873-Reference-C;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative G gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt ACGAATAGCGAT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAacgaatagcgatAGATCGAGACCCGACGC chr8:41997873-Alternative-G;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Variant A gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GTCCGGCTGTAA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgtccggctgtaaAGATCGAGACCCGACGC chr8:41997873-Variant-A;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative G gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CATCAGGAACTT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAcatcaggaacttAGATCGAGACCCGACGC chr8:41997873-Alternative-G;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative T gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt ACGAACGGATTA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAacgaacggattaAGATCGAGACCCGACGC chr8:41997873-Alternative-T;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Variant A gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CGACAGTAACTT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAcgacagtaacttAGATCGAGACCCGACGC chr8:41997873-Variant-A;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Variant A gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt ACTTATTCGTCG CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAacttattcgtcgAGATCGAGACCCGACGC chr8:41997873-Variant-A;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative G gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GCAGTGTAGCGA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgGctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgcagtgtagcgaAGATCGAGACCCGACGC chr8:41997873-Alternative-G;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative T gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CGGAAGTTCGAC CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAcggaagttcgacAGATCGAGACCCGACGC chr8:41997873-Alternative-T;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative T gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CTGTCGAAGACA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAActgtcgaagacaAGATCGAGACCCGACGC chr8:41997873-Alternative-T;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative T gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt GCGAATGGATTA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAgcgaatggattaAGATCGAGACCCGACGC chr8:41997873-Alternative-T;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Variant A gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt AGCTTAGGATGA CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAagcttaggatgaAGATCGAGACCCGACGC chr8:41997873-Variant-A;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Variant A gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt AGCGCCGCATAT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgActggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAagcgccgcatatAGATCGAGACCCGACGC chr8:41997873-Variant-A;Patient-61 chr8:41997873-CA Inherited Patient-61 intergenic 0.000734 0.00032 0 2.65 -8.48 PLAT 67320 Alternative T gagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggt CGATACGGAGAT CGACGCGGTCTCTCTCTgagcagccgggccccagaacaatgggtgctttcagccgcccctttagatgTctggcccgtcaccatggcaaccaccccattattgaaagtcagtgccggtAGAGGGAGACGGACGTCTCAATAAcgatacggagatAGATCGAGACCCGACGC chr8:41997873-Alternative-T;Patient-61 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative C gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GGAGTAGATTCA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAggagtagattcaAGATCGAGACCCGACGC chr8:42153701-Alternative-C;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Reference A gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GTACTTAGTCGA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgtacttagtcgaAGATCGAGACCCGACGC chr8:42153701-Reference-A;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative C gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc ATCGTAGACATC CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAatcgtagacatcAGATCGAGACCCGACGC chr8:42153701-Alternative-C;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative C gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CGTTGTTGCGTC CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcgttgttgcgtcAGATCGAGACCCGACGC chr8:42153701-Alternative-C;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative C gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CATTCAATCGGT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcattcaatcggtAGATCGAGACCCGACGC chr8:42153701-Alternative-C;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative C gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GCGAGATAGACA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatCtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgcgagatagacaAGATCGAGACCCGACGC chr8:42153701-Alternative-C;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Reference A gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GTGCGACTGAAC CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgtgcgactgaacAGATCGAGACCCGACGC chr8:42153701-Reference-A;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Reference A gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CACATAAGCCTT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcacataagccttAGATCGAGACCCGACGC chr8:42153701-Reference-A;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Reference A gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CGTCTGACAATT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcgtctgacaattAGATCGAGACCCGACGC chr8:42153701-Reference-A;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Variant G gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc AGTATCTTCGCT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAagtatcttcgctAGATCGAGACCCGACGC chr8:42153701-Variant-G;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative T gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CAGTAGTGCGCA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcagtagtgcgcaAGATCGAGACCCGACGC chr8:42153701-Alternative-T;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative T gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GACATAGACGAG CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgacatagacgagAGATCGAGACCCGACGC chr8:42153701-Alternative-T;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative T gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GATCGCGATCGA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgatcgcgatcgaAGATCGAGACCCGACGC chr8:42153701-Alternative-T;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Variant G gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc ACGCTAGAATGA CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAacgctagaatgaAGATCGAGACCCGACGC chr8:42153701-Variant-G;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Variant G gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc ATAATCGCGCAT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAataatcgcgcatAGATCGAGACCCGACGC chr8:42153701-Variant-G;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative T gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GGTGACGTACCT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAggtgacgtacctAGATCGAGACCCGACGC chr8:42153701-Alternative-T;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Reference A gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc GACTGGTTAGAT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatAtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAgactggttagatAGATCGAGACCCGACGC chr8:42153701-Reference-A;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Variant G gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc AGGCCGATTGAG CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAaggccgattgagAGATCGAGACCCGACGC chr8:42153701-Variant-G;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Variant G gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc CGGCTAAGATGC CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatGtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAcggctaagatgcAGATCGAGACCCGACGC chr8:42153701-Variant-G;Patient-90 chr8:42153701-AG DeNovo Patient-90 intronic IKBKB NA 4.95e-05 -0.03 2.17 0.59 IKBKB 24880 Alternative T gggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctc AACGGTACACGT CGACGCGGTCTCTCTCTgggcacaaacttcagtcactgcttatcttcagcatctagaatagcagtatTtaatcttctctataaatatttgtcaaatgagagctggatgcggtggctcAGAGGGAGACGGACGTCTCAATAAaacggtacacgtAGATCGAGACCCGACGC chr8:42153701-Alternative-T;Patient-90 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Reference T gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GGTAAGCTGCGT CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAggtaagctgcgtAGATCGAGACCCGACGC chr8:42165056-Reference-T;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative C gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag AGGACTTAACCG CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAaggacttaaccgAGATCGAGACCCGACGC chr8:42165056-Alternative-C;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Reference T gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag ACTTGAAGCCGG CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAacttgaagccggAGATCGAGACCCGACGC chr8:42165056-Reference-T;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative A gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag ACGCTTGGTATA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAacgcttggtataAGATCGAGACCCGACGC chr8:42165056-Alternative-A;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative C gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GTGGCAGCAAGT CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgtggcagcaagtAGATCGAGACCCGACGC chr8:42165056-Alternative-C;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative C gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag AGCAAGTCGGCA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAagcaagtcggcaAGATCGAGACCCGACGC chr8:42165056-Alternative-C;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Reference T gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GCGAATTCGCAG CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgcgaattcgcagAGATCGAGACCCGACGC chr8:42165056-Reference-T;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative C gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GTCCGACGGTTA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgtccgacggttaAGATCGAGACCCGACGC chr8:42165056-Alternative-C;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative C gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag CGCTTAGCGTCA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcCtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAcgcttagcgtcaAGATCGAGACCCGACGC chr8:42165056-Alternative-C;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative A gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GACCTGCTTGCT CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgacctgcttgctAGATCGAGACCCGACGC chr8:42165056-Alternative-A;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative A gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag CTATCATAACGC CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAActatcataacgcAGATCGAGACCCGACGC chr8:42165056-Alternative-A;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Variant G gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag AGTCGCAATATC CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAagtcgcaatatcAGATCGAGACCCGACGC chr8:42165056-Variant-G;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative A gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag AACGTGAGGTTC CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAaacgtgaggttcAGATCGAGACCCGACGC chr8:42165056-Alternative-A;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Variant G gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag CTATCACGTTCA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAActatcacgttcaAGATCGAGACCCGACGC chr8:42165056-Variant-G;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Variant G gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GGACATTGGCGA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAggacattggcgaAGATCGAGACCCGACGC chr8:42165056-Variant-G;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Reference T gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GTCATTAGCCAA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgtcattagccaaAGATCGAGACCCGACGC chr8:42165056-Reference-T;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Alternative A gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GACTACGTAGAA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcAtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgactacgtagaaAGATCGAGACCCGACGC chr8:42165056-Alternative-A;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Variant G gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag CGGCTGTCTTGT CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAcggctgtcttgtAGATCGAGACCCGACGC chr8:42165056-Variant-G;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Variant G gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GATACCGGCACA CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcGtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAgataccggcacaAGATCGAGACCCGACGC chr8:42165056-Variant-G;Patient-93 chr8:42165056-TG DeNovo Patient-93 intronic IKBKB NA 4.95e-05 0.25 6.57 -1.07 POLB 30916 Reference T gtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcag GGTGTATCTATC CGACGCGGTCTCTCTCTgtgaggtaggggcagtgaagatgtagagggcaattagattccaggagggcTtagcacaaatgcccagcaagacttgtcataggttgcttgatgatggcagAGAGGGAGACGGACGTCTCAATAAggtgtatctatcAGATCGAGACCCGACGC chr8:42165056-Reference-T;Patient-93 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative C acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct ACTCATATGGAG CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAactcatatggagAGATCGAGACCCGACGC chr8:42228343-Alternative-C;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative C acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AACCGAGTAACA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAaaccgagtaacaAGATCGAGACCCGACGC chr8:42228343-Alternative-C;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative C acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GAGTCCATAAGA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAgagtccataagaAGATCGAGACCCGACGC chr8:42228343-Alternative-C;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Reference G acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CATCGCGAGCAA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAcatcgcgagcaaAGATCGAGACCCGACGC chr8:42228343-Reference-G;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative C acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AGCATGATGCGC CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAagcatgatgcgcAGATCGAGACCCGACGC chr8:42228343-Alternative-C;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative C acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CGAGGCATGACT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtCttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAcgaggcatgactAGATCGAGACCCGACGC chr8:42228343-Alternative-C;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Reference G acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AGCTTATCGAGT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAagcttatcgagtAGATCGAGACCCGACGC chr8:42228343-Reference-G;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Variant A acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GCGTCGTGAATC CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAgcgtcgtgaatcAGATCGAGACCCGACGC chr8:42228343-Variant-A;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Variant A acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AGAATCAGCACA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAagaatcagcacaAGATCGAGACCCGACGC chr8:42228343-Variant-A;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative T acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CTTATGGTTGTC CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAActtatggttgtcAGATCGAGACCCGACGC chr8:42228343-Alternative-T;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative T acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CTTGGTCGTGCT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAActtggtcgtgctAGATCGAGACCCGACGC chr8:42228343-Alternative-T;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Variant A acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GACGAGTCCGAA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAgacgagtccgaaAGATCGAGACCCGACGC chr8:42228343-Variant-A;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Reference G acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AACGCATGAGTT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAaacgcatgagttAGATCGAGACCCGACGC chr8:42228343-Reference-G;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Reference G acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AACGGCCAATGT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAaacggccaatgtAGATCGAGACCCGACGC chr8:42228343-Reference-G;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Variant A acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GAATTACGCAAG CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAgaattacgcaagAGATCGAGACCCGACGC chr8:42228343-Variant-A;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Variant A acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct AAGCACGCGAAT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtAttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAaagcacgcgaatAGATCGAGACCCGACGC chr8:42228343-Variant-A;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative T acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CGACGTGTCGAT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAcgacgtgtcgatAGATCGAGACCCGACGC chr8:42228343-Alternative-T;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative T acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GATAGCACTCGA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAgatagcactcgaAGATCGAGACCCGACGC chr8:42228343-Alternative-T;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Reference G acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct GGAGAACGGACA CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtGttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAggagaacggacaAGATCGAGACCCGACGC chr8:42228343-Reference-G;Patient-99 chr8:42228343-GA DeNovo Patient-99 intronic POLB 9.6e-05 4.95e-05 0.22 6.13 0.24 POLB 32369 Alternative T acgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagct CACTTCCGCCTT CGACGCGGTCTCTCTCTacgatagctgatgagctttaaagaaaaaaatcataaaaacatctcatcgtTttttaagacagtttacgaatttgtgttgggccacattcaaagtggagctAGAGGGAGACGGACGTCTCAATAAcacttccgccttAGATCGAGACCCGACGC chr8:42228343-Alternative-T;Patient-99 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative C cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CAACAATAGACG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcaacaatagacgAGATCGAGACCCGACGC chr8:42389364-Alternative-C;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Variant A cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GTTCGACTATCG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgttcgactatcgAGATCGAGACCCGACGC chr8:42389364-Variant-A;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative C cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg AGTATACACGCT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAagtatacacgctAGATCGAGACCCGACGC chr8:42389364-Alternative-C;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative C cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GTCAGACGATTA CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgtcagacgattaAGATCGAGACCCGACGC chr8:42389364-Alternative-C;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative C cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GAATAAGGACCT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgaataaggacctAGATCGAGACCCGACGC chr8:42389364-Alternative-C;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative C cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg AAGTCATGATGG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaCttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAaagtcatgatggAGATCGAGACCCGACGC chr8:42389364-Alternative-C;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Variant A cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CGGATATTGACA CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcggatattgacaAGATCGAGACCCGACGC chr8:42389364-Variant-A;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Variant A cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CGAAGGACGTAT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcgaaggacgtatAGATCGAGACCCGACGC chr8:42389364-Variant-A;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Variant A cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GCGAGTAATCGG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgcgagtaatcggAGATCGAGACCCGACGC chr8:42389364-Variant-A;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Reference G cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg ACTGAACGACGA CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAactgaacgacgaAGATCGAGACCCGACGC chr8:42389364-Reference-G;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative T cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CGTCGGCGATAT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcgtcggcgatatAGATCGAGACCCGACGC chr8:42389364-Alternative-T;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Reference G cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CGATAGAATGCA CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcgatagaatgcaAGATCGAGACCCGACGC chr8:42389364-Reference-G;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Reference G cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg AGCCTTAGAGCT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAagccttagagctAGATCGAGACCCGACGC chr8:42389364-Reference-G;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Reference G cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GAGATAATTGCG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgagataattgcgAGATCGAGACCCGACGC chr8:42389364-Reference-G;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative T cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CACAGCGGTAAC CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcacagcggtaacAGATCGAGACCCGACGC chr8:42389364-Alternative-T;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative T cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GTCGCACTGTTC CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgtcgcactgttcAGATCGAGACCCGACGC chr8:42389364-Alternative-T;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative T cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CTAGCGTAAGCG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAActagcgtaagcgAGATCGAGACCCGACGC chr8:42389364-Alternative-T;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Alternative T cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg CACATCGAGTCG CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaTttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAcacatcgagtcgAGATCGAGACCCGACGC chr8:42389364-Alternative-T;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Reference G cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GTTCGTCAATGA CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaGttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAgttcgtcaatgaAGATCGAGACCCGACGC chr8:42389364-Reference-G;Patient-25 chr8:42389364-GA Inherited Patient-25 intronic SLC20A2 NA 0.00016 0 2.68 0.24 SLC20A2 7991 Variant A cgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatg GGATAGAATCGT CGACGCGGTCTCTCTCTcgggagcccaaggcacgagaattacttgtacctgggaggcagcggttgcaAttagccgcgatcgcatcatcgcactccaaccagtctgggcgacagaatgAGAGGGAGACGGACGTCTCAATAAggatagaatcgtAGATCGAGACCCGACGC chr8:42389364-Variant-A;Patient-25 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative T tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca ACGAAGTTGGAT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAacgaagttggatAGATCGAGACCCGACGC chr8:43053141-Alternative-T;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative T tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GTGATCGTCTAA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgtgatcgtctaaAGATCGAGACCCGACGC chr8:43053141-Alternative-T;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative T tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CGCCGACTGATT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAcgccgactgattAGATCGAGACCCGACGC chr8:43053141-Alternative-T;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative T tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GACGATGCCTAT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgacgatgcctatAGATCGAGACCCGACGC chr8:43053141-Alternative-T;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative T tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca AACGCGTATACT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaTgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAaacgcgtatactAGATCGAGACCCGACGC chr8:43053141-Alternative-T;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Variant A tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GCGACTCTATAA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgcgactctataaAGATCGAGACCCGACGC chr8:43053141-Variant-A;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Reference G tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca AGAGCTAGGTCG CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAagagctaggtcgAGATCGAGACCCGACGC chr8:43053141-Reference-G;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Reference G tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GCGGCTGATCAT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgcggctgatcatAGATCGAGACCCGACGC chr8:43053141-Reference-G;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Reference G tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca ATAAGGTCGCGG CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAataaggtcgcggAGATCGAGACCCGACGC chr8:43053141-Reference-G;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Reference G tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GATCGTTAGACA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgatcgttagacaAGATCGAGACCCGACGC chr8:43053141-Reference-G;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Reference G tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GACTACGCGGAT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaGgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgactacgcggatAGATCGAGACCCGACGC chr8:43053141-Reference-G;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative C tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CACATCATCGTT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAcacatcatcgttAGATCGAGACCCGACGC chr8:43053141-Alternative-C;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative C tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GTGCGAACGAGA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAgtgcgaacgagaAGATCGAGACCCGACGC chr8:43053141-Alternative-C;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Variant A tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CGAATTCTGACA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAcgaattctgacaAGATCGAGACCCGACGC chr8:43053141-Variant-A;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative C tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CGACACACATTC CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAcgacacacattcAGATCGAGACCCGACGC chr8:43053141-Alternative-C;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Variant A tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GGCCATAGCGTT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAggccatagcgttAGATCGAGACCCGACGC chr8:43053141-Variant-A;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative C tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca GGTCAGTAACGG CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAggtcagtaacggAGATCGAGACCCGACGC chr8:43053141-Alternative-C;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Alternative C tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CTCACGTATCGA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaCgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAActcacgtatcgaAGATCGAGACCCGACGC chr8:43053141-Alternative-C;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Variant A tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca ATAACGCTACCA CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAataacgctaccaAGATCGAGACCCGACGC chr8:43053141-Variant-A;Patient-66 chr8:43053141-GA DeNovo Patient-66 intronic HGSNAT NA 8.38e-05 -0.07 1.69 -1.69 HGSNAT 57548 Variant A tccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagcca CAACAGTACCTT CGACGCGGTCTCTCTCTtccaggtaagtcacctccaacctcaaacagagctgggatggtgaccaggaAgcaggcccagggacctctggagcatccttggtgctggggtcttgagccaAGAGGGAGACGGACGTCTCAATAAcaacagtaccttAGATCGAGACCCGACGC chr8:43053141-Variant-A;Patient-66 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative G acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CACATTCGGTAA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcacattcggtaaAGATCGAGACCCGACGC chr8:48906027-Alternative-G;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Reference T acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa ACACGGTCTGAC CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAacacggtctgacAGATCGAGACCCGACGC chr8:48906027-Reference-T;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative G acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa AGCCAGGACCAT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAagccaggaccatAGATCGAGACCCGACGC chr8:48906027-Alternative-G;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative G acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GTAATGCTTGAC CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgtaatgcttgacAGATCGAGACCCGACGC chr8:48906027-Alternative-G;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Reference T acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CGACACATTAGT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcgacacattagtAGATCGAGACCCGACGC chr8:48906027-Reference-T;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Reference T acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GCATCGAAGGAT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgcatcgaaggatAGATCGAGACCCGACGC chr8:48906027-Reference-T;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative G acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa ACTAGTGCTACA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAactagtgctacaAGATCGAGACCCGACGC chr8:48906027-Alternative-G;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative G acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CGTCGTACCTGT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatGtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcgtcgtacctgtAGATCGAGACCCGACGC chr8:48906027-Alternative-G;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Reference T acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CACGTTGCGTCA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcacgttgcgtcaAGATCGAGACCCGACGC chr8:48906027-Reference-T;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Reference T acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GAATCAGCGGAG CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatTtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgaatcagcggagAGATCGAGACCCGACGC chr8:48906027-Reference-T;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative A acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa AATAAGGATCGG CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAaataaggatcggAGATCGAGACCCGACGC chr8:48906027-Alternative-A;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Variant C acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GTTCTGTGATGA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgttctgtgatgaAGATCGAGACCCGACGC chr8:48906027-Variant-C;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Variant C acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CGCGATCGTAAG CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcgcgatcgtaagAGATCGAGACCCGACGC chr8:48906027-Variant-C;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative A acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa AAGACTACGGAA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAaagactacggaaAGATCGAGACCCGACGC chr8:48906027-Alternative-A;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative A acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa CACTGTACTCAT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAcactgtactcatAGATCGAGACCCGACGC chr8:48906027-Alternative-A;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Variant C acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GTACACCTACCT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgtacacctacctAGATCGAGACCCGACGC chr8:48906027-Variant-C;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative A acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa ACTGAGGCGACT CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAactgaggcgactAGATCGAGACCCGACGC chr8:48906027-Alternative-A;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Variant C acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GACCTATGTGCA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgacctatgtgcaAGATCGAGACCCGACGC chr8:48906027-Variant-C;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Variant C acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa AACCGGTTCGCA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatCtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAaaccggttcgcaAGATCGAGACCCGACGC chr8:48906027-Variant-C;Patient-37 chr8:48906027-TC DeNovo Patient-37 intergenic NA 0.000513 0.09 4.14 0 UBE2V2 14967 Alternative A acagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaa GTCGGCATTCGA CGACGCGGTCTCTCTCTacagggagtaaggatgctgggtgaggtgagcacttttggcgagactgaatAtgggatttttgataaagagtatcgggggaaccagcccccgatatttcaaAGAGGGAGACGGACGTCTCAATAAgtcggcattcgaAGATCGAGACCCGACGC chr8:48906027-Alternative-A;Patient-37 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative C gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagt GGCCATGAGTCA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAggccatgagtcaAGATCGAGACCCGACGC chr8:49011031-Alternative-C;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative T gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagt CGATGTGCATAT CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcgatgtgcatatAGATCGAGACCCGACGC chr8:49011031-Alternative-T;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Reference A gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagt AATCGGCAGTAA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAaatcggcagtaaAGATCGAGACCCGACGC chr8:49011031-Reference-A;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative C gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagt CACGGCCATAAG CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcacggccataagAGATCGAGACCCGACGC chr8:49011031-Alternative-C;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative C gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagt GGATCATGTGAA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAggatcatgtgaaAGATCGAGACCCGACGC chr8:49011031-Alternative-C;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative T gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagt ACGTGATTACCA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAacgtgattaccaAGATCGAGACCCGACGC chr8:49011031-Alternative-T;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Reference A gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagt GCGATTAGCACA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAgcgattagcacaAGATCGAGACCCGACGC chr8:49011031-Reference-A;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Reference A gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagt GGACCGTGCTAT CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAggaccgtgctatAGATCGAGACCCGACGC chr8:49011031-Reference-A;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Reference A gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagt GGTACATCATCA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAggtacatcatcaAGATCGAGACCCGACGC chr8:49011031-Reference-A;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative C gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagt GTACGAACGTAA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAgtacgaacgtaaAGATCGAGACCCGACGC chr8:49011031-Alternative-C;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative C gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagt ACGCTCATGATA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgCataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAacgctcatgataAGATCGAGACCCGACGC chr8:49011031-Alternative-C;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Reference A gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagt AATGTGCCGGCA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgAataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAaatgtgccggcaAGATCGAGACCCGACGC chr8:49011031-Reference-A;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative T gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagt CGATACTCGTGC CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcgatactcgtgcAGATCGAGACCCGACGC chr8:49011031-Alternative-T;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative T gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagt CAGCATGCGCAA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcagcatgcgcaaAGATCGAGACCCGACGC chr8:49011031-Alternative-T;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Variant G gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagt ACACTAGTTAGG CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAacactagttaggAGATCGAGACCCGACGC chr8:49011031-Variant-G;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Variant G gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagt GTGCCAGAAGCA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAgtgccagaagcaAGATCGAGACCCGACGC chr8:49011031-Variant-G;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Alternative T gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagt CACATTATCGAG CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgTataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcacattatcgagAGATCGAGACCCGACGC chr8:49011031-Alternative-T;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Variant G gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagt AGGTACGCACGA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAaggtacgcacgaAGATCGAGACCCGACGC chr8:49011031-Variant-G;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Variant G gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagt ATTCCTGCGTCC CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAattcctgcgtccAGATCGAGACCCGACGC chr8:49011031-Variant-G;Patient-39 chr8:49011031-AG DeNovo Patient-39 intergenic NA 0.000513 0.56 9.93 0.15 UBE2V2 90035 Variant G gatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagt CAGCAGTGATAA CGACGCGGTCTCTCTCTgatatttatgtctttctctaggtttgggaaattctgtttttattcctttgGataaactttctacccctatttttttctctacctcctatttaaggccagtAGAGGGAGACGGACGTCTCAATAAcagcagtgataaAGATCGAGACCCGACGC chr8:49011031-Variant-G;Patient-39 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative G cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CTACGGTTGCGA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAActacggttgcgaAGATCGAGACCCGACGC chr8:49771587-Alternative-G;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative G cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagagg ACATAGCTTCGT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAacatagcttcgtAGATCGAGACCCGACGC chr8:49771587-Alternative-G;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative G cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CTTGCCTATATC CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAActtgcctatatcAGATCGAGACCCGACGC chr8:49771587-Alternative-G;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative G cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CTCATCACGAAC CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAActcatcacgaacAGATCGAGACCCGACGC chr8:49771587-Alternative-G;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative G cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CTGGCAGTACAC CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaGtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAActggcagtacacAGATCGAGACCCGACGC chr8:49771587-Alternative-G;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Reference T cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CGACCGTGCTAA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAcgaccgtgctaaAGATCGAGACCCGACGC chr8:49771587-Reference-T;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Reference T cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CGTCGGAAGCTA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAcgtcggaagctaAGATCGAGACCCGACGC chr8:49771587-Reference-T;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Variant C cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagagg ACTCGGCGCAAT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAactcggcgcaatAGATCGAGACCCGACGC chr8:49771587-Variant-C;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative A cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CGGATTCTAAGA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAcggattctaagaAGATCGAGACCCGACGC chr8:49771587-Alternative-A;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Variant C cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagagg GTAAGGAACGAC CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAgtaaggaacgacAGATCGAGACCCGACGC chr8:49771587-Variant-C;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Reference T cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagagg GGATCCAAGCCA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAggatccaagccaAGATCGAGACCCGACGC chr8:49771587-Reference-T;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Reference T cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagagg AATAAGCACGGT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAaataagcacggtAGATCGAGACCCGACGC chr8:49771587-Reference-T;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Reference T cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagagg GTGCTAAGACAT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaTtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAgtgctaagacatAGATCGAGACCCGACGC chr8:49771587-Reference-T;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Variant C cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagagg ACTGAACGCACG CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAactgaacgcacgAGATCGAGACCCGACGC chr8:49771587-Variant-C;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Variant C cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CGTAGATATCGT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAcgtagatatcgtAGATCGAGACCCGACGC chr8:49771587-Variant-C;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative A cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagagg ATCTGTCCGTTA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAatctgtccgttaAGATCGAGACCCGACGC chr8:49771587-Alternative-A;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Variant C cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagagg GGATCGCACATA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaCtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAggatcgcacataAGATCGAGACCCGACGC chr8:49771587-Variant-C;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative A cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagagg CTAATCGGACCG CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAActaatcggaccgAGATCGAGACCCGACGC chr8:49771587-Alternative-A;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative A cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagagg AATGGCGAGTAT CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAaatggcgagtatAGATCGAGACCCGACGC chr8:49771587-Alternative-A;Patient-91 chr8:49771587-TC DeNovo Patient-91 intergenic NA 0.000512821 -0.13 1.13 -1.45 SNAI2 62411 Alternative A cagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagagg ACTGTGGACATA CGACGCGGTCTCTCTCTcagatggtgcaaatggtctaagaagcctaatcatttggtaacctttaaaaAtggtgtattatacttcaaatatatttctcatttatctagctgggagaggAGAGGGAGACGGACGTCTCAATAAactgtggacataAGATCGAGACCCGACGC chr8:49771587-Alternative-A;Patient-91 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Reference C ataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacat CATCTTGCGGAC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAcatcttgcggacAGATCGAGACCCGACGC chr8:49818726-Reference-C;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Reference C ataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacat AGTTAGAGTACC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAagttagagtaccAGATCGAGACCCGACGC chr8:49818726-Reference-C;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative A ataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacat GCGTACATACTA CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgcgtacatactaAGATCGAGACCCGACGC chr8:49818726-Alternative-A;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative A ataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacat GACGATATTCGT CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgacgatattcgtAGATCGAGACCCGACGC chr8:49818726-Alternative-A;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative A ataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacat GGTAGCAAGTCG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAggtagcaagtcgAGATCGAGACCCGACGC chr8:49818726-Alternative-A;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Reference C ataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacat AAGTGAATCGTC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAaagtgaatcgtcAGATCGAGACCCGACGC chr8:49818726-Reference-C;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative A ataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacat GACATGTTCGGC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgacatgttcggcAGATCGAGACCCGACGC chr8:49818726-Alternative-A;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Reference C ataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacat CGGCAATATCAT CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAcggcaatatcatAGATCGAGACCCGACGC chr8:49818726-Reference-C;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Variant T ataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacat CGCATATACGCG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAcgcatatacgcgAGATCGAGACCCGACGC chr8:49818726-Variant-T;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative A ataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacat CGTTATCGTAGA CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttAtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAcgttatcgtagaAGATCGAGACCCGACGC chr8:49818726-Alternative-A;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Variant T ataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacat GTACAGTTATCG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgtacagttatcgAGATCGAGACCCGACGC chr8:49818726-Variant-T;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Variant T ataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacat GTTATGCTTGTC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgttatgcttgtcAGATCGAGACCCGACGC chr8:49818726-Variant-T;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Variant T ataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacat AGCGGTCAAGCT CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAagcggtcaagctAGATCGAGACCCGACGC chr8:49818726-Variant-T;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative G ataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacat GGAGTCATTACG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAggagtcattacgAGATCGAGACCCGACGC chr8:49818726-Alternative-G;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Variant T ataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacat ATTCGCAACTGA CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttTtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAattcgcaactgaAGATCGAGACCCGACGC chr8:49818726-Variant-T;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Reference C ataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacat AACGGCTTGTCG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttCtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAaacggcttgtcgAGATCGAGACCCGACGC chr8:49818726-Reference-C;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative G ataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacat ACTGAAGATGAG CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAactgaagatgagAGATCGAGACCCGACGC chr8:49818726-Alternative-G;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative G ataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacat GCGCGACTAGAA CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgcgcgactagaaAGATCGAGACCCGACGC chr8:49818726-Alternative-G;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative G ataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacat GTACGCATACCA CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAgtacgcataccaAGATCGAGACCCGACGC chr8:49818726-Alternative-G;Patient-78 chr8:49818726-CT DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.98 -1.8 SNAI2 15272 Alternative G ataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacat CGCTCAGTACAC CGACGCGGTCTCTCTCTataggccctctctgcattttctagaagccactgacccttgagtaaagcttGtccctccttcctctgtgagctggaacatctatagatctttggggaacatAGAGGGAGACGGACGTCTCAATAAcgctcagtacacAGATCGAGACCCGACGC chr8:49818726-Alternative-G;Patient-78 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative A ttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CGCCATGCTAAC CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcgccatgctaacAGATCGAGACCCGACGC chr8:49931546-Alternative-A;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative A ttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CAAGAGGTGATT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcaagaggtgattAGATCGAGACCCGACGC chr8:49931546-Alternative-A;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative A ttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc ATTCGCTGAGCG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAattcgctgagcgAGATCGAGACCCGACGC chr8:49931546-Alternative-A;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Reference C ttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc ATAGCTTCCGGC CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAatagcttccggcAGATCGAGACCCGACGC chr8:49931546-Reference-C;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Reference C ttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CTTGCGAGCCAT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAActtgcgagccatAGATCGAGACCCGACGC chr8:49931546-Reference-C;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Reference C ttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AGGCTAAGCGTC CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAaggctaagcgtcAGATCGAGACCCGACGC chr8:49931546-Reference-C;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative A ttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc GTTGATGTGCAT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAgttgatgtgcatAGATCGAGACCCGACGC chr8:49931546-Alternative-A;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Reference C ttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AGTAACAAGTCG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAagtaacaagtcgAGATCGAGACCCGACGC chr8:49931546-Reference-C;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative A ttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AATGCGGACATT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccAagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAaatgcggacattAGATCGAGACCCGACGC chr8:49931546-Alternative-A;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Variant T ttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc GGTTGGACTACC CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAggttggactaccAGATCGAGACCCGACGC chr8:49931546-Variant-T;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Variant T ttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc GCGTCGGTGTTA CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAgcgtcggtgttaAGATCGAGACCCGACGC chr8:49931546-Variant-T;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Variant T ttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc GCGCTAGTACAG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAgcgctagtacagAGATCGAGACCCGACGC chr8:49931546-Variant-T;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Variant T ttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AGACGCGATCGT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAagacgcgatcgtAGATCGAGACCCGACGC chr8:49931546-Variant-T;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Reference C ttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CATTCGGATTCA CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccCagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcattcggattcaAGATCGAGACCCGACGC chr8:49931546-Reference-C;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Variant T ttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CGCGTAGAATCG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccTagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcgcgtagaatcgAGATCGAGACCCGACGC chr8:49931546-Variant-T;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative G ttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CAGACTAATGAG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcagactaatgagAGATCGAGACCCGACGC chr8:49931546-Alternative-G;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative G ttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AGCTGTATTCCT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAagctgtattcctAGATCGAGACCCGACGC chr8:49931546-Alternative-G;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative G ttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc ACTCGGTCCAAG CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAactcggtccaagAGATCGAGACCCGACGC chr8:49931546-Alternative-G;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative G ttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc CACACGAACTAT CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAcacacgaactatAGATCGAGACCCGACGC chr8:49931546-Alternative-G;Patient-25 chr8:49931546-CT Inherited Patient-25 intergenic NA 0.000513 -0.06 1.87 0.12 SNAI2 97546 Alternative G ttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtcc AGTACGCTCATA CGACGCGGTCTCTCTCTttcgatgggagcctccaattaccacttattttagttggccatctctgcccGagccccatctctgtttttgattgatcttgtcaaaagacttaggttgtccAGAGGGAGACGGACGTCTCAATAAagtacgctcataAGATCGAGACCCGACGC chr8:49931546-Alternative-G;Patient-25 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative C gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ACGCAATATTCG CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAacgcaatattcgAGATCGAGACCCGACGC chr8:50812294-Alternative-C;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative C gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CACGTACTGCGA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcacgtactgcgaAGATCGAGACCCGACGC chr8:50812294-Alternative-C;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative T gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ATTGCGACTTCT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAattgcgacttctAGATCGAGACCCGACGC chr8:50812294-Alternative-T;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative T gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CGTGCCGATGAA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcgtgccgatgaaAGATCGAGACCCGACGC chr8:50812294-Alternative-T;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Variant G gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CGCTGAAGATAA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcgctgaagataaAGATCGAGACCCGACGC chr8:50812294-Variant-G;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative C gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CGTTCGCGTAAG CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcgttcgcgtaagAGATCGAGACCCGACGC chr8:50812294-Alternative-C;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative C gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc AAGAAGATCGAG CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAaagaagatcgagAGATCGAGACCCGACGC chr8:50812294-Alternative-C;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Reference A gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc GGACCGGTGAAT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAggaccggtgaatAGATCGAGACCCGACGC chr8:50812294-Reference-A;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative T gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CACATCAAGCAT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcacatcaagcatAGATCGAGACCCGACGC chr8:50812294-Alternative-T;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Reference A gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc AGTGATCAAGCA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAagtgatcaagcaAGATCGAGACCCGACGC chr8:50812294-Reference-A;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative T gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ACACAATCGCGG CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAacacaatcgcggAGATCGAGACCCGACGC chr8:50812294-Alternative-T;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Variant G gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CGTTGTGCACCT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcgttgtgcacctAGATCGAGACCCGACGC chr8:50812294-Variant-G;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Variant G gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ACAGCACGGTCA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAacagcacggtcaAGATCGAGACCCGACGC chr8:50812294-Variant-G;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Variant G gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc GAGTCATGATGA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAgagtcatgatgaAGATCGAGACCCGACGC chr8:50812294-Variant-G;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Reference A gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ACGTAACCAAGA CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAacgtaaccaagaAGATCGAGACCCGACGC chr8:50812294-Reference-A;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative T gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc GGATGAACATTC CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggTtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAggatgaacattcAGATCGAGACCCGACGC chr8:50812294-Alternative-T;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Reference A gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ATCGTTAGGAGT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAatcgttaggagtAGATCGAGACCCGACGC chr8:50812294-Reference-A;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Alternative C gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc ACGGTGCCTCTT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggCtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAacggtgcctcttAGATCGAGACCCGACGC chr8:50812294-Alternative-C;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Variant G gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc GCGGTATGCAAG CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggGtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAgcggtatgcaagAGATCGAGACCCGACGC chr8:50812294-Variant-G;Patient-87 chr8:50812294-AG DeNovo Patient-87 intergenic NA 0.000513 -0.01 2.45 -0.59 SNTG1 12302 Reference A gagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttc CGTCTGGCGAAT CGACGCGGTCTCTCTCTgagagagtaccaaccatattttaaatgtaaaataacaaacataattgtggAtatggaatgtgttgttctgtactctctgtggatgaattttaaagttttcAGAGGGAGACGGACGTCTCAATAAcgtctggcgaatAGATCGAGACCCGACGC chr8:50812294-Reference-A;Patient-87 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Reference T taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatc CGCAGTTGAGAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAcgcagttgagaaAGATCGAGACCCGACGC chr8:54236527-Reference-T;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Reference T taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatc GGTAAGCAATCA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAggtaagcaatcaAGATCGAGACCCGACGC chr8:54236527-Reference-T;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Reference T taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatc GCCGATTGTGCA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAgccgattgtgcaAGATCGAGACCCGACGC chr8:54236527-Reference-T;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative A taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatc AGCGTCTGAACG CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAagcgtctgaacgAGATCGAGACCCGACGC chr8:54236527-Alternative-A;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative C taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatc AGGTTATGTCGT CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAaggttatgtcgtAGATCGAGACCCGACGC chr8:54236527-Alternative-C;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative A taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatc ATCTCGAGTGTT CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAatctcgagtgttAGATCGAGACCCGACGC chr8:54236527-Alternative-A;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative A taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatc CACGGTAGTCGA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAcacggtagtcgaAGATCGAGACCCGACGC chr8:54236527-Alternative-A;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Reference T taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatc GTTCGCCGTAAT CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAgttcgccgtaatAGATCGAGACCCGACGC chr8:54236527-Reference-T;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative C taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatc CAACGAGTGTGG CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAcaacgagtgtggAGATCGAGACCCGACGC chr8:54236527-Alternative-C;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Reference T taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatc ACCGTTCCAGCT CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatTatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAaccgttccagctAGATCGAGACCCGACGC chr8:54236527-Reference-T;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Variant G taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatc GCGACGTCAGAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAgcgacgtcagaaAGATCGAGACCCGACGC chr8:54236527-Variant-G;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Variant G taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatc ATCGATGTGCGA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAatcgatgtgcgaAGATCGAGACCCGACGC chr8:54236527-Variant-G;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative C taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatc ATATTCGGCCAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAatattcggccaaAGATCGAGACCCGACGC chr8:54236527-Alternative-C;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative C taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatc AGTCGTTGACCG CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAagtcgttgaccgAGATCGAGACCCGACGC chr8:54236527-Alternative-C;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative A taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatc AGGACCTCAACC CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAaggacctcaaccAGATCGAGACCCGACGC chr8:54236527-Alternative-A;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative C taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatc CTCTTGAGGCGT CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatCatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAActcttgaggcgtAGATCGAGACCCGACGC chr8:54236527-Alternative-C;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Alternative A taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatc ATCCTGTGGACG CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatAatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAatcctgtggacgAGATCGAGACCCGACGC chr8:54236527-Alternative-A;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Variant G taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatc CGTAACCAAGAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAcgtaaccaagaaAGATCGAGACCCGACGC chr8:54236527-Variant-G;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Variant G taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatc AGTGCGAGCGAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAagtgcgagcgaaAGATCGAGACCCGACGC chr8:54236527-Variant-G;Patient-55 chr8:54236527-TG Inherited Patient-55 intergenic 6.4e-05 0.000513 -0.06 1.79 0.67 OPRK1 72332 Variant G taagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatc GTACAAGGTCAA CGACGCGGTCTCTCTCTtaagtatatgcatacacacaaatataaaggatatagatgcatagagcaatGatgcattcatttggccaagtacattcattcattcattcattcatcaatcAGAGGGAGACGGACGTCTCAATAAgtacaaggtcaaAGATCGAGACCCGACGC chr8:54236527-Variant-G;Patient-55 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Reference G acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat AGATGATTACGG CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAagatgattacggAGATCGAGACCCGACGC chr8:54896199-Reference-G;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Reference G acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CGAATTCCGGCA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcgaattccggcaAGATCGAGACCCGACGC chr8:54896199-Reference-G;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Reference G acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CGCTCAATGAGA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcgctcaatgagaAGATCGAGACCCGACGC chr8:54896199-Reference-G;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Variant A acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CGCTAATCATGT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcgctaatcatgtAGATCGAGACCCGACGC chr8:54896199-Variant-A;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative C acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CGAGGCTGTTGT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcgaggctgttgtAGATCGAGACCCGACGC chr8:54896199-Alternative-C;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Reference G acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat AACACAACACCT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAaacacaacacctAGATCGAGACCCGACGC chr8:54896199-Reference-G;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative C acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat ACTCGTCTTCAA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAactcgtcttcaaAGATCGAGACCCGACGC chr8:54896199-Alternative-C;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative C acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GCGCGAGTACTA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAgcgcgagtactaAGATCGAGACCCGACGC chr8:54896199-Alternative-C;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative T acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat ATTGAATACCGC CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAattgaataccgcAGATCGAGACCCGACGC chr8:54896199-Alternative-T;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative C acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GTCTCGACTATA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAgtctcgactataAGATCGAGACCCGACGC chr8:54896199-Alternative-C;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Variant A acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CTAACGGTATAC CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAActaacggtatacAGATCGAGACCCGACGC chr8:54896199-Variant-A;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Variant A acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CATCAGGCCTTA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcatcaggccttaAGATCGAGACCCGACGC chr8:54896199-Variant-A;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative T acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GGCCGATCTCAT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAggccgatctcatAGATCGAGACCCGACGC chr8:54896199-Alternative-T;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative T acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GATGTCGACATA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAgatgtcgacataAGATCGAGACCCGACGC chr8:54896199-Alternative-T;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Variant A acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GCCGTACGTCTA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAgccgtacgtctaAGATCGAGACCCGACGC chr8:54896199-Variant-A;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Variant A acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat GTCATGGAATGA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaAcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAgtcatggaatgaAGATCGAGACCCGACGC chr8:54896199-Variant-A;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative T acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CATCGGTTGACA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAcatcggttgacaAGATCGAGACCCGACGC chr8:54896199-Alternative-T;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Reference G acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat CTGAGTAACCTA CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaGcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAActgagtaacctaAGATCGAGACCCGACGC chr8:54896199-Reference-G;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative C acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat ACGTTCTCAACT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaCcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAacgttctcaactAGATCGAGACCCGACGC chr8:54896199-Alternative-C;Patient-71 chr8:54896199-GA DeNovo Patient-71 intronic TCEA1 0.000162 9.9e-05 0 2.58 0.23 TCEA1 38808 Alternative T acccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataat AGCTAAGGACTT CGACGCGGTCTCTCTCTacccgggaggcagaggttgcagtgagccaagactatgccattgcatcccaTcccaggcaacaagggcaaaatttcgtatcaaaaaaaaaaaagaaataatAGAGGGAGACGGACGTCTCAATAAagctaaggacttAGATCGAGACCCGACGC chr8:54896199-Alternative-T;Patient-71 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative T tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CACGTTGTGAAT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcacgttgtgaatAGATCGAGACCCGACGC chr8:55358256-Alternative-T;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative T tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca GCATTGGATACT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAgcattggatactAGATCGAGACCCGACGC chr8:55358256-Alternative-T;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative T tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CGCGAGATAAGT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcgcgagataagtAGATCGAGACCCGACGC chr8:55358256-Alternative-T;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative T tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CGTCGTCACGAA CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcgtcgtcacgaaAGATCGAGACCCGACGC chr8:55358256-Alternative-T;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative C tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca AAGAATGACCGT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAaagaatgaccgtAGATCGAGACCCGACGC chr8:55358256-Alternative-C;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Variant G tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca AACCGGACAAGG CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAaaccggacaaggAGATCGAGACCCGACGC chr8:55358256-Variant-G;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Reference A tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca AGGTTGAGTACA CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAaggttgagtacaAGATCGAGACCCGACGC chr8:55358256-Reference-A;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Reference A tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CATCATTCCAAC CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcatcattccaacAGATCGAGACCCGACGC chr8:55358256-Reference-A;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Reference A tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca GCAACGAACGGT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAgcaacgaacggtAGATCGAGACCCGACGC chr8:55358256-Reference-A;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative T tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CAGACGTCGCAT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaTaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcagacgtcgcatAGATCGAGACCCGACGC chr8:55358256-Alternative-T;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Reference A tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CGGCAACTGTTC CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcggcaactgttcAGATCGAGACCCGACGC chr8:55358256-Reference-A;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Reference A tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca GTGCGACAGCTT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaAaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAgtgcgacagcttAGATCGAGACCCGACGC chr8:55358256-Reference-A;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Variant G tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CGCGATTCAATT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcgcgattcaattAGATCGAGACCCGACGC chr8:55358256-Variant-G;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Variant G tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CTTGGATCTTGT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAActtggatcttgtAGATCGAGACCCGACGC chr8:55358256-Variant-G;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Variant G tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca GATATCGCGTCG CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAgatatcgcgtcgAGATCGAGACCCGACGC chr8:55358256-Variant-G;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative C tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CAGATTGTTCGA CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcagattgttcgaAGATCGAGACCCGACGC chr8:55358256-Alternative-C;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative C tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CATTCTGTTCCT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcattctgttcctAGATCGAGACCCGACGC chr8:55358256-Alternative-C;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Variant G tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca CGGATGACGACT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaGaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAcggatgacgactAGATCGAGACCCGACGC chr8:55358256-Variant-G;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative C tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca GGCCAATTGCCT CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAggccaattgcctAGATCGAGACCCGACGC chr8:55358256-Alternative-C;Patient-55 chr8:55358256-AG Inherited Patient-55 intergenic 3.2e-05 0.000512821 0.58 10.12 0.19 SOX17 12238 Alternative C tgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatcca ATTCATCTACGC CGACGCGGTCTCTCTCTtgtagacacgaccctgtcagattttcctcctttagtcctggaaagggagaCaagatttgccaagaagagaagagcctgtttacgtgccctaggtcatccaAGAGGGAGACGGACGTCTCAATAAattcatctacgcAGATCGAGACCCGACGC chr8:55358256-Alternative-C;Patient-55 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Reference A ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca CTGCATCAACTT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAActgcatcaacttAGATCGAGACCCGACGC chr8:56960690-Reference-A;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative C ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GATCGTCCGGAA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAgatcgtccggaaAGATCGAGACCCGACGC chr8:56960690-Alternative-C;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative C ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GGTGAACCTGAG CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAggtgaacctgagAGATCGAGACCCGACGC chr8:56960690-Alternative-C;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Reference A ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GGACAGCTATAC CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAggacagctatacAGATCGAGACCCGACGC chr8:56960690-Reference-A;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative C ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca ATCGGCATAAGA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAatcggcataagaAGATCGAGACCCGACGC chr8:56960690-Alternative-C;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Reference A ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GGTGTTACGTTA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAggtgttacgttaAGATCGAGACCCGACGC chr8:56960690-Reference-A;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative C ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca ATTGCTCGCCAC CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAattgctcgccacAGATCGAGACCCGACGC chr8:56960690-Alternative-C;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Reference A ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca AATCAACGAGGT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAaatcaacgaggtAGATCGAGACCCGACGC chr8:56960690-Reference-A;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative C ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca CTAAGCTTGGCG CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaCacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAActaagcttggcgAGATCGAGACCCGACGC chr8:56960690-Alternative-C;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Reference A ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca CAGGATTGACGG CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaAacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAcaggattgacggAGATCGAGACCCGACGC chr8:56960690-Reference-A;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative T ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GCATTCCGTGCT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAgcattccgtgctAGATCGAGACCCGACGC chr8:56960690-Alternative-T;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative T ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca CGTGACTCTTAT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAcgtgactcttatAGATCGAGACCCGACGC chr8:56960690-Alternative-T;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Variant G ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca AATACGCTCGGC CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAaatacgctcggcAGATCGAGACCCGACGC chr8:56960690-Variant-G;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative T ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca CTTAAGTGTCGA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAActtaagtgtcgaAGATCGAGACCCGACGC chr8:56960690-Alternative-T;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Variant G ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GCGCGGTGAATT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAgcgcggtgaattAGATCGAGACCCGACGC chr8:56960690-Variant-G;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Variant G ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca AATGTCGGAGAT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAaatgtcggagatAGATCGAGACCCGACGC chr8:56960690-Variant-G;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Variant G ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GCGTTAGGCATC CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAgcgttaggcatcAGATCGAGACCCGACGC chr8:56960690-Variant-G;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Variant G ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca ACGCTCAGTATA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaGacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAacgctcagtataAGATCGAGACCCGACGC chr8:56960690-Variant-G;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative T ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca ATCTTAGCGTCT CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAatcttagcgtctAGATCGAGACCCGACGC chr8:56960690-Alternative-T;Patient-35 chr8:56960690-AG DeNovo Patient-35 intergenic NA 0.000513 0.1 4.24 0.71 RPS20 26449 Alternative T ccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatca GTAACGTGAACA CGACGCGGTCTCTCTCTccatcaccttgggggttaggatctcaacataggggttttgaagagacacaTacattcaatctgttgcagagtaccagataaatagattgtgctgtaatcaAGAGGGAGACGGACGTCTCAATAAgtaacgtgaacaAGATCGAGACCCGACGC chr8:56960690-Alternative-T;Patient-35 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative A gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag GTACACCAACAG CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAgtacaccaacagAGATCGAGACCCGACGC chr8:57417498-Alternative-A;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative A gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ATTGCGCTCGGT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAattgcgctcggtAGATCGAGACCCGACGC chr8:57417498-Alternative-A;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative A gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag AGGAACGCAGTC CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAaggaacgcagtcAGATCGAGACCCGACGC chr8:57417498-Alternative-A;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative C gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag GCATTGAATCGT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAgcattgaatcgtAGATCGAGACCCGACGC chr8:57417498-Alternative-C;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Variant T gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACGTGAGAAGTT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacgtgagaagttAGATCGAGACCCGACGC chr8:57417498-Variant-T;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative A gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACGTCGTTGACG CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacgtcgttgacgAGATCGAGACCCGACGC chr8:57417498-Alternative-A;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative A gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag CGTGACGAGTCT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaAaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAcgtgacgagtctAGATCGAGACCCGACGC chr8:57417498-Alternative-A;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative C gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag AGTATAGCAACG CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAagtatagcaacgAGATCGAGACCCGACGC chr8:57417498-Alternative-C;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Variant T gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag AAGTACGCGATA CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAaagtacgcgataAGATCGAGACCCGACGC chr8:57417498-Variant-T;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Variant T gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag GGATGTCGTCCA CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAggatgtcgtccaAGATCGAGACCCGACGC chr8:57417498-Variant-T;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative C gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag AAGTACTTGCAC CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAaagtacttgcacAGATCGAGACCCGACGC chr8:57417498-Alternative-C;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Variant T gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACGTCGTTATGA CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacgtcgttatgaAGATCGAGACCCGACGC chr8:57417498-Variant-T;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative C gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag AAGTCATCAACC CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAaagtcatcaaccAGATCGAGACCCGACGC chr8:57417498-Alternative-C;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Alternative C gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag CGTTATGACGCG CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaCaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAcgttatgacgcgAGATCGAGACCCGACGC chr8:57417498-Alternative-C;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Variant T gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACGCGTATCATT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaTaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacgcgtatcattAGATCGAGACCCGACGC chr8:57417498-Variant-T;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Reference G gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACAGATTGCGAT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacagattgcgatAGATCGAGACCCGACGC chr8:57417498-Reference-G;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Reference G gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag GAGTATGTAACG CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAgagtatgtaacgAGATCGAGACCCGACGC chr8:57417498-Reference-G;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Reference G gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ATCCTCGCGAAC CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAatcctcgcgaacAGATCGAGACCCGACGC chr8:57417498-Reference-G;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Reference G gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACAAGGTGATCA CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacaaggtgatcaAGATCGAGACCCGACGC chr8:57417498-Reference-G;Patient-27 chr8:57417498-GT DeNovo Patient-27 intergenic NA 0.000513 0.21 6.03 0.76 PENK 58215 Reference G gaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagag ACGATCATGGTT CGACGCGGTCTCTCTCTgaacttttcctcttttttctcacttttccctcttccttcctagaaagaaaGaatatgagaatgagatgcagagtagagttcccaacattaagcatgagagAGAGGGAGACGGACGTCTCAATAAacgatcatggttAGATCGAGACCCGACGC chr8:57417498-Reference-G;Patient-27 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative G ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CTATCGAAGTCA CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAActatcgaagtcaAGATCGAGACCCGACGC chr8:57985698-Alternative-G;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative G ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GAGATCAGTATC CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAgagatcagtatcAGATCGAGACCCGACGC chr8:57985698-Alternative-G;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Variant T ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CGTGCTTGGACA CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcgtgcttggacaAGATCGAGACCCGACGC chr8:57985698-Variant-T;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative G ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CATCGGCGTGAA CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcatcggcgtgaaAGATCGAGACCCGACGC chr8:57985698-Alternative-G;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative G ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GTAGCTTCGCAG CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAgtagcttcgcagAGATCGAGACCCGACGC chr8:57985698-Alternative-G;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Variant T ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GGTGTTCATAGT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAggtgttcatagtAGATCGAGACCCGACGC chr8:57985698-Variant-T;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative G ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt AGGCTTATCTGT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccGgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAaggcttatctgtAGATCGAGACCCGACGC chr8:57985698-Alternative-G;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Variant T ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CAGGTACACGCT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcaggtacacgctAGATCGAGACCCGACGC chr8:57985698-Variant-T;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Variant T ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GTTGTGCAACGC CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAgttgtgcaacgcAGATCGAGACCCGACGC chr8:57985698-Variant-T;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Variant T ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt AGCAACATGTTC CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccTgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAagcaacatgttcAGATCGAGACCCGACGC chr8:57985698-Variant-T;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative A ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GGTATCTTCCAT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAggtatcttccatAGATCGAGACCCGACGC chr8:57985698-Alternative-A;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative A ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CGCAGACTAAGA CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcgcagactaagaAGATCGAGACCCGACGC chr8:57985698-Alternative-A;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative A ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt AGGTGATGACCG CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAaggtgatgaccgAGATCGAGACCCGACGC chr8:57985698-Alternative-A;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative A ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CATAATCGATCG CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcataatcgatcgAGATCGAGACCCGACGC chr8:57985698-Alternative-A;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Reference C ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt AGGACGGTCAGT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAaggacggtcagtAGATCGAGACCCGACGC chr8:57985698-Reference-C;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Alternative A ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GGTTAGATTCGT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccAgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAggttagattcgtAGATCGAGACCCGACGC chr8:57985698-Alternative-A;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Reference C ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GGTGACGCGATA CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAggtgacgcgataAGATCGAGACCCGACGC chr8:57985698-Reference-C;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Reference C ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt GTGCTCCACGTT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAgtgctccacgttAGATCGAGACCCGACGC chr8:57985698-Reference-C;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Reference C ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt AGCGGCCAAGAT CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAagcggccaagatAGATCGAGACCCGACGC chr8:57985698-Reference-C;Patient-87 chr8:57985698-CT Inherited Patient-87 intergenic 0.000414 0.00103 -0.74 0.01 -3.67 IMPAD1 79267 Reference C ccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggacttt CGGACGTCTAAC CGACGCGGTCTCTCTCTccaacccagttcccttatgatatggtggtctttgcttctactaacatcccCgctgatgcccaacataaggcaaacccagcttgtcttggtcatggactttAGAGGGAGACGGACGTCTCAATAAcggacgtctaacAGATCGAGACCCGACGC chr8:57985698-Reference-C;Patient-87 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Variant C tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgat CGAGACACCGAT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcgagacaccgatAGATCGAGACCCGACGC chr8:58841744-Variant-C;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative A tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgat AACGTGGTAGCG CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAaacgtggtagcgAGATCGAGACCCGACGC chr8:58841744-Alternative-A;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative A tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgat ATAACGGTCACG CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAataacggtcacgAGATCGAGACCCGACGC chr8:58841744-Alternative-A;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative A tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgat AATCGGAATGGT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAaatcggaatggtAGATCGAGACCCGACGC chr8:58841744-Alternative-A;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative A tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgat CGTTGATGCAAT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcgttgatgcaatAGATCGAGACCCGACGC chr8:58841744-Alternative-A;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Reference G tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgat GATGACGAGCAA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgatgacgagcaaAGATCGAGACCCGACGC chr8:58841744-Reference-G;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative A tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgat GGTTGACCATTA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaAcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAggttgaccattaAGATCGAGACCCGACGC chr8:58841744-Alternative-A;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Reference G tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgat CACGTTACGCAG CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcacgttacgcagAGATCGAGACCCGACGC chr8:58841744-Reference-G;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative T tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgat GTTCGCGAACAG CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgttcgcgaacagAGATCGAGACCCGACGC chr8:58841744-Alternative-T;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative T tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgat CACAGCGCTACA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcacagcgctacaAGATCGAGACCCGACGC chr8:58841744-Alternative-T;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Reference G tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgat GCATCAGACCGT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgcatcagaccgtAGATCGAGACCCGACGC chr8:58841744-Reference-G;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Reference G tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgat GCGTACTCTGAC CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgcgtactctgacAGATCGAGACCCGACGC chr8:58841744-Reference-G;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Reference G tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgat AGGCCATTGCGA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaGcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAaggccattgcgaAGATCGAGACCCGACGC chr8:58841744-Reference-G;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative T tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgat ATCTGCGGCACA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAatctgcggcacaAGATCGAGACCCGACGC chr8:58841744-Alternative-T;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative T tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgat GTACCGCTGGAA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgtaccgctggaaAGATCGAGACCCGACGC chr8:58841744-Alternative-T;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Variant C tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgat CGGATCGCACAT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcggatcgcacatAGATCGAGACCCGACGC chr8:58841744-Variant-C;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Alternative T tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgat AGCGTCGCTCTT CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaTcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAagcgtcgctcttAGATCGAGACCCGACGC chr8:58841744-Alternative-T;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Variant C tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgat CTCTAGGCTAGG CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAActctaggctaggAGATCGAGACCCGACGC chr8:58841744-Variant-C;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Variant C tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgat GCCGATCATCCA CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAgccgatcatccaAGATCGAGACCCGACGC chr8:58841744-Variant-C;Patient-89 chr8:58841744-GC DeNovo Patient-89 intergenic NA 0.000512821 0 2.65 1.61 FAM110B 65368 Variant C tttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgat CGATTGGCGTAC CGACGCGGTCTCTCTCTtttacagtggaaaaggaaggccttgggtgtgcctggagaggaggctgttaCcctggagaagctggaggcagctaattagaagttggatattgtatatgatAGAGGGAGACGGACGTCTCAATAAcgattggcgtacAGATCGAGACCCGACGC chr8:58841744-Variant-C;Patient-89 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative G ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatag CGAGGTGGCTAA CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcgaggtggctaaAGATCGAGACCCGACGC chr8:59318081-Alternative-G;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative G ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatag AGCGTAACGGCA CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAagcgtaacggcaAGATCGAGACCCGACGC chr8:59318081-Alternative-G;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative G ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatag CGGAGATTGCAG CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcggagattgcagAGATCGAGACCCGACGC chr8:59318081-Alternative-G;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative G ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatag GCAAGTACGAGT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAgcaagtacgagtAGATCGAGACCCGACGC chr8:59318081-Alternative-G;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Reference T ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatag AAGTGACATCAG CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAaagtgacatcagAGATCGAGACCCGACGC chr8:59318081-Reference-T;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Reference T ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatag ACGCTACACAAC CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAacgctacacaacAGATCGAGACCCGACGC chr8:59318081-Reference-T;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative G ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatag GACTGGACTTCG CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaGttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAgactggacttcgAGATCGAGACCCGACGC chr8:59318081-Alternative-G;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Reference T ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatag GCATGAGGTGGT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAgcatgaggtggtAGATCGAGACCCGACGC chr8:59318081-Reference-T;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative A ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatag CTAGAGGTTCAC CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAActagaggttcacAGATCGAGACCCGACGC chr8:59318081-Alternative-A;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Reference T ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatag CGAAGATTAACC CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcgaagattaaccAGATCGAGACCCGACGC chr8:59318081-Reference-T;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Variant C ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatag ATCATCGAGCTA CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAatcatcgagctaAGATCGAGACCCGACGC chr8:59318081-Variant-C;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Variant C ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatag AGCACGATAGCT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAagcacgatagctAGATCGAGACCCGACGC chr8:59318081-Variant-C;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Reference T ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatag CAACACCACGGT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaTttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcaacaccacggtAGATCGAGACCCGACGC chr8:59318081-Reference-T;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative A ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatag CATCAAGACGCG CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcatcaagacgcgAGATCGAGACCCGACGC chr8:59318081-Alternative-A;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative A ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatag CACATCAGTTCT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcacatcagttctAGATCGAGACCCGACGC chr8:59318081-Alternative-A;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative A ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatag GACGCTTGACGT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAgacgcttgacgtAGATCGAGACCCGACGC chr8:59318081-Alternative-A;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Alternative A ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatag CTGAGAATGGCG CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaAttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAActgagaatggcgAGATCGAGACCCGACGC chr8:59318081-Alternative-A;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Variant C ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatag GGACGGTGTAGT CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAggacggtgtagtAGATCGAGACCCGACGC chr8:59318081-Variant-C;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Variant C ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatag AATACCACCGAC CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAaataccaccgacAGATCGAGACCCGACGC chr8:59318081-Variant-C;Patient-37 chr8:59318081-TC DeNovo Patient-37 intergenic NA 0.000513 -0.68 0.02 -0.45 UBXN2B 5741 Variant C ccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatag CGGTGACTCTAC CGACGCGGTCTCTCTCTccaagcagaagctgttctgctacctctatagcctgcagaacaatgagccaCttagccccttttctttataaattatccagtctcggatatttctttatagAGAGGGAGACGGACGTCTCAATAAcggtgactctacAGATCGAGACCCGACGC chr8:59318081-Variant-C;Patient-37 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative A ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat AACACGCGGCAA CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAaacacgcggcaaAGATCGAGACCCGACGC chr8:59417771-Alternative-A;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative A ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat GATCGCTATATC CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAgatcgctatatcAGATCGAGACCCGACGC chr8:59417771-Alternative-A;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative G ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat GTGTACCTCTAT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAgtgtacctctatAGATCGAGACCCGACGC chr8:59417771-Alternative-G;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative G ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CTAAGGTATCGG CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAActaaggtatcggAGATCGAGACCCGACGC chr8:59417771-Alternative-G;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative G ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat AATCGATGCGCG CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAaatcgatgcgcgAGATCGAGACCCGACGC chr8:59417771-Alternative-G;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative G ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CTCTGAGAATGA CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAActctgagaatgaAGATCGAGACCCGACGC chr8:59417771-Alternative-G;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative G ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat GAATAATCGTGG CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaGcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAgaataatcgtggAGATCGAGACCCGACGC chr8:59417771-Alternative-G;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Variant T ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CGTGGACCGAAT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcgtggaccgaatAGATCGAGACCCGACGC chr8:59417771-Variant-T;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative A ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat AGACGGCTTCGT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAagacggcttcgtAGATCGAGACCCGACGC chr8:59417771-Alternative-A;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Reference C ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CGGTCGGATGTT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcggtcggatgttAGATCGAGACCCGACGC chr8:59417771-Reference-C;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Variant T ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CAAGCGAGATGA CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcaagcgagatgaAGATCGAGACCCGACGC chr8:59417771-Variant-T;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Variant T ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat ACACGATAAGGT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAacacgataaggtAGATCGAGACCCGACGC chr8:59417771-Variant-T;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative A ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat ACTCGTCCAATC CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAactcgtccaatcAGATCGAGACCCGACGC chr8:59417771-Alternative-A;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Alternative A ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat ACTCCGATACGT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaAcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAactccgatacgtAGATCGAGACCCGACGC chr8:59417771-Alternative-A;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Reference C ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat GTATCAAGTACC CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAgtatcaagtaccAGATCGAGACCCGACGC chr8:59417771-Reference-C;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Variant T ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat ACCGCTGATCCA CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAaccgctgatccaAGATCGAGACCCGACGC chr8:59417771-Variant-T;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Variant T ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CAGAGGTACAAT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaTcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcagaggtacaatAGATCGAGACCCGACGC chr8:59417771-Variant-T;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Reference C ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CAAGGTGTAACA CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcaaggtgtaacaAGATCGAGACCCGACGC chr8:59417771-Reference-C;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Reference C ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CTTAGGTGTAGT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAActtaggtgtagtAGATCGAGACCCGACGC chr8:59417771-Reference-C;Patient-79 chr8:59417771-CT DeNovo Patient-79 intergenic NA 0.00031 0.1 4.22 1.57 CYP7A1 5050 Reference C ccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaat CGGTAAGCGCAT CGACGCGGTCTCTCTCTccaccacaacctgttagtttcctcttgtttacatagagtagtgaagaggaCcacacttcctaaagtgtggaagaaatacttattccgggcctcagaaaatAGAGGGAGACGGACGTCTCAATAAcggtaagcgcatAGATCGAGACCCGACGC chr8:59417771-Reference-C;Patient-79 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Reference T gggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt ACCAACGGTACA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAaccaacggtacaAGATCGAGACCCGACGC chr8:61474420-Reference-T;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Reference T gggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt CAAGAGTTGCGG CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAcaagagttgcggAGATCGAGACCCGACGC chr8:61474420-Reference-T;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Variant C gggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt CTTGGATGTAGT CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAActtggatgtagtAGATCGAGACCCGACGC chr8:61474420-Variant-C;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Variant C gggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt AACGGTGTAAGT CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAaacggtgtaagtAGATCGAGACCCGACGC chr8:61474420-Variant-C;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Variant C gggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GTTCGCCATCAA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgttcgccatcaaAGATCGAGACCCGACGC chr8:61474420-Variant-C;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Variant C gggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GTAGATACGCTA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgtagatacgctaAGATCGAGACCCGACGC chr8:61474420-Variant-C;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Reference T gggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GACGGTGTAGCA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgacggtgtagcaAGATCGAGACCCGACGC chr8:61474420-Reference-T;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Reference T gggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GGCGTAACACTT CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAggcgtaacacttAGATCGAGACCCGACGC chr8:61474420-Reference-T;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Reference T gggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt CGATATAGTCGT CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaTtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAcgatatagtcgtAGATCGAGACCCGACGC chr8:61474420-Reference-T;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative A gggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt AGTTGGTTCCAA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAagttggttccaaAGATCGAGACCCGACGC chr8:61474420-Alternative-A;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative A gggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt CGTAGCTTGGAC CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAcgtagcttggacAGATCGAGACCCGACGC chr8:61474420-Alternative-A;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative G gggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GACGACTATAGA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgacgactatagaAGATCGAGACCCGACGC chr8:61474420-Alternative-G;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative A gggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GCACGGTAACAC CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgcacggtaacacAGATCGAGACCCGACGC chr8:61474420-Alternative-A;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Variant C gggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GACATATGCGCA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaCtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgacatatgcgcaAGATCGAGACCCGACGC chr8:61474420-Variant-C;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative A gggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt ACGGCTATCGCA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAacggctatcgcaAGATCGAGACCCGACGC chr8:61474420-Alternative-A;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative G gggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt CACAGCTTACGG CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAcacagcttacggAGATCGAGACCCGACGC chr8:61474420-Alternative-G;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative G gggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GACAATGTAACG CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgacaatgtaacgAGATCGAGACCCGACGC chr8:61474420-Alternative-G;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative G gggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt ATTGATGCGGAA CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAattgatgcggaaAGATCGAGACCCGACGC chr8:61474420-Alternative-G;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative G gggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GACGCGTGAACT CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaGtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgacgcgtgaactAGATCGAGACCCGACGC chr8:61474420-Alternative-G;Patient-58 chr8:61474420-TC Inherited Patient-58 intronic RAB2A 0.000573 0.000148 0.26 6.64 1.75 RAB2A 44950 Alternative A gggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagtt GCCGATTATACG CGACGCGGTCTCTCTCTgggtgagtagtcatacatagccactaccagaattccctcacacctagctaAtctatttagtcatcatgtccttatcttttgtcccctgtaatgatcagttAGAGGGAGACGGACGTCTCAATAAgccgattatacgAGATCGAGACCCGACGC chr8:61474420-Alternative-A;Patient-58 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Reference G atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CTGTGCTGACCT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAActgtgctgacctAGATCGAGACCCGACGC chr8:6306303-Reference-G;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Reference G atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CGGATGTGAGCT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcggatgtgagctAGATCGAGACCCGACGC chr8:6306303-Reference-G;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative T atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CTGCGGTGTACA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAActgcggtgtacaAGATCGAGACCCGACGC chr8:6306303-Alternative-T;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Reference G atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaag GCAGTATGGTAA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAgcagtatggtaaAGATCGAGACCCGACGC chr8:6306303-Reference-G;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Reference G atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaag GAGTATACATGG CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAgagtatacatggAGATCGAGACCCGACGC chr8:6306303-Reference-G;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Reference G atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CTAACCAGTCGC CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaGcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAActaaccagtcgcAGATCGAGACCCGACGC chr8:6306303-Reference-G;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative A atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaag AACCGTAGATCA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAaaccgtagatcaAGATCGAGACCCGACGC chr8:6306303-Alternative-A;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative T atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CGAATTCGCATA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcgaattcgcataAGATCGAGACCCGACGC chr8:6306303-Alternative-T;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative T atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaag GCAGACTACTAT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAgcagactactatAGATCGAGACCCGACGC chr8:6306303-Alternative-T;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative T atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CTGCTGTGTCGT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAActgctgtgtcgtAGATCGAGACCCGACGC chr8:6306303-Alternative-T;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative T atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CATCACGCGTGT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaTcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcatcacgcgtgtAGATCGAGACCCGACGC chr8:6306303-Alternative-T;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Variant C atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CATCATCACCAT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcatcatcaccatAGATCGAGACCCGACGC chr8:6306303-Variant-C;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Variant C atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CGTTCTTCCAGG CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcgttcttccaggAGATCGAGACCCGACGC chr8:6306303-Variant-C;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative A atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaag GACGAGCAACCA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAgacgagcaaccaAGATCGAGACCCGACGC chr8:6306303-Alternative-A;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative A atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaag ATAGCAAGTCGA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAatagcaagtcgaAGATCGAGACCCGACGC chr8:6306303-Alternative-A;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Variant C atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaag ACACTTCGGCCA CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAacacttcggccaAGATCGAGACCCGACGC chr8:6306303-Variant-C;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Variant C atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CTCTGCGTATAT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAActctgcgtatatAGATCGAGACCCGACGC chr8:6306303-Variant-C;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative A atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaag CGTCGTGTAGGT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAcgtcgtgtaggtAGATCGAGACCCGACGC chr8:6306303-Alternative-A;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Alternative A atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaag ACGCTACTAAGT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaAcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAacgctactaagtAGATCGAGACCCGACGC chr8:6306303-Alternative-A;Patient-88 chr8:6306303-GC DeNovo Patient-88 intronic MCPH1 NA 4.95e-05 -0.32 0.32 -2.86 MCPH1 42189 Variant C atgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaag GTAACCGGCTGT CGACGCGGTCTCTCTCTatgtcatatatttacatattggtaccagtaaatcttcattttctaatagaCcctataggtagggtcagcacactttttctgtaacagatcagatagtaagAGAGGGAGACGGACGTCTCAATAAgtaaccggctgtAGATCGAGACCCGACGC chr8:6306303-Variant-C;Patient-88 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Variant A aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatag GGTAATCGTAGA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAggtaatcgtagaAGATCGAGACCCGACGC chr8:6329695-Variant-A;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Variant A aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatag GGTGGCTTATCG CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAggtggcttatcgAGATCGAGACCCGACGC chr8:6329695-Variant-A;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Variant A aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatag AACGATCGTTCA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAaacgatcgttcaAGATCGAGACCCGACGC chr8:6329695-Variant-A;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Variant A aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatag CGCCGGATATGA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAcgccggatatgaAGATCGAGACCCGACGC chr8:6329695-Variant-A;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative C aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatag GCGACTATGTCG CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAgcgactatgtcgAGATCGAGACCCGACGC chr8:6329695-Alternative-C;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative C aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatag ATCCTACAAGCA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAatcctacaagcaAGATCGAGACCCGACGC chr8:6329695-Alternative-C;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative T aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatag GGCCGATTGTTC CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAggccgattgttcAGATCGAGACCCGACGC chr8:6329695-Alternative-T;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative C aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatag AAGTGTCCGTTA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAaagtgtccgttaAGATCGAGACCCGACGC chr8:6329695-Alternative-C;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Variant A aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatag ACGAGCTGACCT CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataAtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAacgagctgacctAGATCGAGACCCGACGC chr8:6329695-Variant-A;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative T aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatag AGATTGTGCGGC CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAagattgtgcggcAGATCGAGACCCGACGC chr8:6329695-Alternative-T;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative C aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatag AGTTATGCTCGA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAagttatgctcgaAGATCGAGACCCGACGC chr8:6329695-Alternative-C;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative C aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatag ACTTGATAGCCA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataCtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAacttgatagccaAGATCGAGACCCGACGC chr8:6329695-Alternative-C;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative T aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatag AAGACCGGAGCA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAaagaccggagcaAGATCGAGACCCGACGC chr8:6329695-Alternative-T;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative T aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatag CGGCCGTATGTT CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAcggccgtatgttAGATCGAGACCCGACGC chr8:6329695-Alternative-T;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Reference G aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatag CAGCAGCATATC CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAcagcagcatatcAGATCGAGACCCGACGC chr8:6329695-Reference-G;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Reference G aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatag CAACGCATGTCG CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAcaacgcatgtcgAGATCGAGACCCGACGC chr8:6329695-Reference-G;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Reference G aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatag CTCTAACGCGTC CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAActctaacgcgtcAGATCGAGACCCGACGC chr8:6329695-Reference-G;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Reference G aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatag GATTAGTGGAAC CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAgattagtggaacAGATCGAGACCCGACGC chr8:6329695-Reference-G;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Reference G aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatag AATGTTCGCCAA CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataGtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAaatgttcgccaaAGATCGAGACCCGACGC chr8:6329695-Reference-G;Patient-54 chr8:6329695-GA Inherited Patient-54 intronic MCPH1 6.4e-05 4.95e-05 -0.2 0.7 -1 MCPH1 65581 Alternative T aatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatag ACTTCGTAACCT CGACGCGGTCTCTCTCTaatggaagaacataatctttacagaaaaaatcttcagatataacaaaataTtcccaagacataatatacaatgaatatgccaagcatataattagaatagAGAGGGAGACGGACGTCTCAATAAacttcgtaacctAGATCGAGACCCGACGC chr8:6329695-Alternative-T;Patient-54 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative A tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc GTCGGAACGGAA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAgtcggaacggaaAGATCGAGACCCGACGC chr8:65429234-Alternative-A;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Variant C tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc AGTCCGTTGTGG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAagtccgttgtggAGATCGAGACCCGACGC chr8:65429234-Variant-C;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative G tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CGACGGTCTAAC CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcgacggtctaacAGATCGAGACCCGACGC chr8:65429234-Alternative-G;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative A tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CGAGATGCTTCG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcgagatgcttcgAGATCGAGACCCGACGC chr8:65429234-Alternative-A;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative A tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc ACAAGATGTGCA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAacaagatgtgcaAGATCGAGACCCGACGC chr8:65429234-Alternative-A;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative G tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc ACGTACCTTCCA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAacgtaccttccaAGATCGAGACCCGACGC chr8:65429234-Alternative-G;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Variant C tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc AGATTGTTGCGT CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAagattgttgcgtAGATCGAGACCCGACGC chr8:65429234-Variant-C;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative A tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CGATTCTGCATT CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcgattctgcattAGATCGAGACCCGACGC chr8:65429234-Alternative-A;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Variant C tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CTGTTAGGCGCA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAActgttaggcgcaAGATCGAGACCCGACGC chr8:65429234-Variant-C;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Reference T tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CGCCTCGTACAT CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcgcctcgtacatAGATCGAGACCCGACGC chr8:65429234-Reference-T;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Reference T tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc GCGGATCCAACA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAgcggatccaacaAGATCGAGACCCGACGC chr8:65429234-Reference-T;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative A tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc GTATATAGGCGA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaAaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAgtatataggcgaAGATCGAGACCCGACGC chr8:65429234-Alternative-A;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Reference T tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc ATCAATAGGTGG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAatcaataggtggAGATCGAGACCCGACGC chr8:65429234-Reference-T;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative G tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CATAGCTGTGCG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcatagctgtgcgAGATCGAGACCCGACGC chr8:65429234-Alternative-G;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Reference T tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc ATTCGTCATACG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAattcgtcatacgAGATCGAGACCCGACGC chr8:65429234-Reference-T;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative G tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CGTCGGATTGAC CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAcgtcggattgacAGATCGAGACCCGACGC chr8:65429234-Alternative-G;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Reference T tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc GAATAAGCAGTC CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaTaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAgaataagcagtcAGATCGAGACCCGACGC chr8:65429234-Reference-T;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Variant C tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc AACGTCACCGAC CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAaacgtcaccgacAGATCGAGACCCGACGC chr8:65429234-Variant-C;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Variant C tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc GAGTCCGGTACA CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaCaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAAgagtccggtacaAGATCGAGACCCGACGC chr8:65429234-Variant-C;Patient-76 chr8:65429234-TC DeNovo Patient-76 intergenic NA 0.000512821 0 2.69 -2.04 BHLHE22 63560 Alternative G tctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttc CTGGCAGTTAAG CGACGCGGTCTCTCTCTtctcacttgtgttgtacccaatcccagacagagttgtggaaatcagcacaGaccatttgcccattaaacatctccttctttcttgtgtctgaaaatcttcAGAGGGAGACGGACGTCTCAATAActggcagttaagAGATCGAGACCCGACGC chr8:65429234-Alternative-G;Patient-76 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Reference A ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CGTGTCTTATGT CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAcgtgtcttatgtAGATCGAGACCCGACGC chr8:65612581-Reference-A;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Reference A ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt AGCGTACTCGAC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAagcgtactcgacAGATCGAGACCCGACGC chr8:65612581-Reference-A;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Variant G ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GCAAGTTAGCTA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgcaagttagctaAGATCGAGACCCGACGC chr8:65612581-Variant-G;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative T ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CGATACGCTCGA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAcgatacgctcgaAGATCGAGACCCGACGC chr8:65612581-Alternative-T;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Variant G ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CTAACAAGTACC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAActaacaagtaccAGATCGAGACCCGACGC chr8:65612581-Variant-G;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative T ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GGACGCTTAAGG CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAggacgcttaaggAGATCGAGACCCGACGC chr8:65612581-Alternative-T;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Variant G ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GCATGCGGACTA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgcatgcggactaAGATCGAGACCCGACGC chr8:65612581-Variant-G;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative T ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CACGAGATCTAC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAcacgagatctacAGATCGAGACCCGACGC chr8:65612581-Alternative-T;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative T ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CGACTACGGACA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAcgactacggacaAGATCGAGACCCGACGC chr8:65612581-Alternative-T;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative T ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt ACTATCGGCTAA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcTctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAactatcggctaaAGATCGAGACCCGACGC chr8:65612581-Alternative-T;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Variant G ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CTACGCAATCGT CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAActacgcaatcgtAGATCGAGACCCGACGC chr8:65612581-Variant-G;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Reference A ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GAGCATGACTAA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgagcatgactaaAGATCGAGACCCGACGC chr8:65612581-Reference-A;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Reference A ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GCAGGTGGCTAA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgcaggtggctaaAGATCGAGACCCGACGC chr8:65612581-Reference-A;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Variant G ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CTAAGGAATGCA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcGctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAActaaggaatgcaAGATCGAGACCCGACGC chr8:65612581-Variant-G;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative C ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CGTCGTTCAACC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAcgtcgttcaaccAGATCGAGACCCGACGC chr8:65612581-Alternative-C;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative C ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GATACCACGCGT CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgataccacgcgtAGATCGAGACCCGACGC chr8:65612581-Alternative-C;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Reference A ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt GCAGCATTGACC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcActgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAgcagcattgaccAGATCGAGACCCGACGC chr8:65612581-Reference-A;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative C ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt ATCCGGAGAATA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAatccggagaataAGATCGAGACCCGACGC chr8:65612581-Alternative-C;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative C ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt AGGAATACCAAC CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAAaggaataccaacAGATCGAGACCCGACGC chr8:65612581-Alternative-C;Patient-81 chr8:65612581-AG DeNovo Patient-81 intronic CYP7B1 0.000446 9.9e-05 1.68 16.66 4.27 CYP7B1 98766 Alternative C ggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgt CTTGCGACACGA CGACGCGGTCTCTCTCTggcacctggtgctagaacccagacaacttgagtcccactgctcatatgtcCctgagataaataggataagtgaccttgtgaggacaaaactgtagaatgtAGAGGGAGACGGACGTCTCAATAActtgcgacacgaAGATCGAGACCCGACGC chr8:65612581-Alternative-C;Patient-81 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative G ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataat GGCGAGTAATCG CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAggcgagtaatcgAGATCGAGACCCGACGC chr8:65731144-Alternative-G;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative G ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataat GCGACGATTCAC CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgcgacgattcacAGATCGAGACCCGACGC chr8:65731144-Alternative-G;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative G ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataat AAGTGGCGCCAA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAaagtggcgccaaAGATCGAGACCCGACGC chr8:65731144-Alternative-G;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative G ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataat CTGCGATAAGAA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAActgcgataagaaAGATCGAGACCCGACGC chr8:65731144-Alternative-G;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Variant T ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataat ACACCGTAGCGT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAacaccgtagcgtAGATCGAGACCCGACGC chr8:65731144-Variant-T;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Variant T ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataat CAACGTCTGCCA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAcaacgtctgccaAGATCGAGACCCGACGC chr8:65731144-Variant-T;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Variant T ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataat GCGAAGTCGGAT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgcgaagtcggatAGATCGAGACCCGACGC chr8:65731144-Variant-T;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative G ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataat AATGCACCGACG CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggGgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAaatgcaccgacgAGATCGAGACCCGACGC chr8:65731144-Alternative-G;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Variant T ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataat CACAGGATTCTT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAcacaggattcttAGATCGAGACCCGACGC chr8:65731144-Variant-T;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Variant T ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataat CTAAGTTCCGGC CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggTgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAActaagttccggcAGATCGAGACCCGACGC chr8:65731144-Variant-T;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Reference A ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataat CGGCATCGAGAA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAcggcatcgagaaAGATCGAGACCCGACGC chr8:65731144-Reference-A;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Reference A ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataat GCAAGCGACTTA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgcaagcgacttaAGATCGAGACCCGACGC chr8:65731144-Reference-A;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Reference A ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataat GCGAGATCTCAA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgcgagatctcaaAGATCGAGACCCGACGC chr8:65731144-Reference-A;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative C ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataat CGCTAATACGCG CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAcgctaatacgcgAGATCGAGACCCGACGC chr8:65731144-Alternative-C;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative C ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataat CTCTATAGCGCG CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAActctatagcgcgAGATCGAGACCCGACGC chr8:65731144-Alternative-C;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative C ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataat GGCGCACATTGT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAggcgcacattgtAGATCGAGACCCGACGC chr8:65731144-Alternative-C;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Reference A ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataat ATAGCAGTAGGT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAatagcagtaggtAGATCGAGACCCGACGC chr8:65731144-Reference-A;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Reference A ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataat GTTCTAGTGCTT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggAgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgttctagtgcttAGATCGAGACCCGACGC chr8:65731144-Reference-A;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative C ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataat GATTCGTCAGAT CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgattcgtcagatAGATCGAGACCCGACGC chr8:65731144-Alternative-C;Patient-55 chr8:65731144-AT Inherited Patient-55 intergenic NA 0.000512821 0.09 4.18 1.09 CYP7B1 19795 Alternative C ttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataat GTCAACTGAGAA CGACGCGGTCTCTCTCTttactatttaaattactgttcaaatcttaaaagcaagaagtatttttaggCgtggggatccacttattcacccattctgtttcatcattcagcaaataatAGAGGGAGACGGACGTCTCAATAAgtcaactgagaaAGATCGAGACCCGACGC chr8:65731144-Alternative-C;Patient-55 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Reference C taggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GCCAGGACGTAA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgccaggacgtaaAGATCGAGACCCGACGC chr8:65733319-Reference-C;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative G taggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc AACTTCCGCCGT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAaacttccgccgtAGATCGAGACCCGACGC chr8:65733319-Alternative-G;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative G taggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc AGTAGCCGACCA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAagtagccgaccaAGATCGAGACCCGACGC chr8:65733319-Alternative-G;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative G taggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GGTATTGCAGTT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAggtattgcagttAGATCGAGACCCGACGC chr8:65733319-Alternative-G;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Reference C taggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc AGTAGCCGCCTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAagtagccgcctaAGATCGAGACCCGACGC chr8:65733319-Reference-C;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative A taggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc AGCTTCTTAGCT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAagcttcttagctAGATCGAGACCCGACGC chr8:65733319-Alternative-A;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Reference C taggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GACATGGTTCTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgacatggttctaAGATCGAGACCCGACGC chr8:65733319-Reference-C;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Variant T taggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GTGTCTGACTTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgtgtctgacttaAGATCGAGACCCGACGC chr8:65733319-Variant-T;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Variant T taggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc ACGCCGGTACAT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAacgccggtacatAGATCGAGACCCGACGC chr8:65733319-Variant-T;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Reference C taggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc CGGAGAATAACT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAcggagaataactAGATCGAGACCCGACGC chr8:65733319-Reference-C;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Variant T taggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GCGAAGCTAGCT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgcgaagctagctAGATCGAGACCCGACGC chr8:65733319-Variant-T;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative G taggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc AACACGACAGAT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAaacacgacagatAGATCGAGACCCGACGC chr8:65733319-Alternative-G;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Variant T taggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc ACGCACTTGCGA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAacgcacttgcgaAGATCGAGACCCGACGC chr8:65733319-Variant-T;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative A taggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc ACGTGCAGTCGT CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAacgtgcagtcgtAGATCGAGACCCGACGC chr8:65733319-Alternative-A;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Variant T taggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc CGCGATTACTTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgTgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAcgcgattacttaAGATCGAGACCCGACGC chr8:65733319-Variant-T;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative G taggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc CTACGCGGTCTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgGgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAActacgcggtctaAGATCGAGACCCGACGC chr8:65733319-Alternative-G;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative A taggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GACTAAGAGTAC CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgactaagagtacAGATCGAGACCCGACGC chr8:65733319-Alternative-A;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Reference C taggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GGTCGTATCCGA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgCgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAggtcgtatccgaAGATCGAGACCCGACGC chr8:65733319-Reference-C;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative A taggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc GACGAGTCTAGG CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAgacgagtctaggAGATCGAGACCCGACGC chr8:65733319-Alternative-A;Patient-109 chr8:65733319-CT DeNovo Patient-109 intergenic NA 3.84e-05 -0.12 1.24 -0.86 CYP7B1 21970 Alternative A taggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgc ACGTCGCGTCTA CGACGCGGTCTCTCTCTtaggctcttgctgaactccaggagctctctgcacatgaggactagtactgAgttgctggatattttcttagtgaagctaatgctcgcctcaggtccctgcAGAGGGAGACGGACGTCTCAATAAacgtcgcgtctaAGATCGAGACCCGACGC chr8:65733319-Alternative-A;Patient-109 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative G cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa GCATTGGTTCGG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAgcattggttcggAGATCGAGACCCGACGC chr8:65753673-Alternative-G;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative G cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa GATTGTCCGCCT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAgattgtccgcctAGATCGAGACCCGACGC chr8:65753673-Alternative-G;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative G cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa GACTAAGCAGGT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAgactaagcaggtAGATCGAGACCCGACGC chr8:65753673-Alternative-G;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative G cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CACGTAAGGTGG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAcacgtaaggtggAGATCGAGACCCGACGC chr8:65753673-Alternative-G;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative G cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CTATCCGACGTC CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaGagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAActatccgacgtcAGATCGAGACCCGACGC chr8:65753673-Alternative-G;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative A cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CGAGTAACGCAT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAcgagtaacgcatAGATCGAGACCCGACGC chr8:65753673-Alternative-A;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Variant T cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa ACAGATGTTACG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAacagatgttacgAGATCGAGACCCGACGC chr8:65753673-Variant-T;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Variant T cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa AGCTTGTAGGCG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAagcttgtaggcgAGATCGAGACCCGACGC chr8:65753673-Variant-T;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Variant T cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa GGAAGTAACACG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAggaagtaacacgAGATCGAGACCCGACGC chr8:65753673-Variant-T;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Variant T cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CATCACTAACGA CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAcatcactaacgaAGATCGAGACCCGACGC chr8:65753673-Variant-T;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Variant T cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CATTAGCGTGCA CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaTagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAcattagcgtgcaAGATCGAGACCCGACGC chr8:65753673-Variant-T;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Reference C cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CTATACAGATGC CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAActatacagatgcAGATCGAGACCCGACGC chr8:65753673-Reference-C;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative A cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa AACGTGCACATC CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAaacgtgcacatcAGATCGAGACCCGACGC chr8:65753673-Alternative-A;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative A cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CGTTGCATACTT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAcgttgcatacttAGATCGAGACCCGACGC chr8:65753673-Alternative-A;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative A cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa ATCATCGTTCGT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAatcatcgttcgtAGATCGAGACCCGACGC chr8:65753673-Alternative-A;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Reference C cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa ACGACGTGCAAG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAacgacgtgcaagAGATCGAGACCCGACGC chr8:65753673-Reference-C;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Reference C cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa ACCACGATAGAA CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAaccacgatagaaAGATCGAGACCCGACGC chr8:65753673-Reference-C;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Alternative A cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa CTGAATTGCGAA CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaAagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAActgaattgcgaaAGATCGAGACCCGACGC chr8:65753673-Alternative-A;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Reference C cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa GCGAGTGTTCGT CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAgcgagtgttcgtAGATCGAGACCCGACGC chr8:65753673-Reference-C;Patient-76 chr8:65753673-CT DeNovo Patient-76 intergenic NA 0.000513 -0.13 1.18 0.4 CYP7B1 42324 Reference C cggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaa ACGACACGCAAG CGACGCGGTCTCTCTCTcggaggttgctgtgagccaagactgcactgctgcactccagcctgggcgaCagagcgagactctgtctgaaaataaaaaaaaaaaaaagaaaaaaaagaaAGAGGGAGACGGACGTCTCAATAAacgacacgcaagAGATCGAGACCCGACGC chr8:65753673-Reference-C;Patient-76 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Variant A ataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ACCGTTAAGACT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAaccgttaagactAGATCGAGACCCGACGC chr8:66732528-Variant-A;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative T ataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CTTAGGTTCGTT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAActtaggttcgttAGATCGAGACCCGACGC chr8:66732528-Alternative-T;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Reference G ataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ACAGCGGAACGA CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAacagcggaacgaAGATCGAGACCCGACGC chr8:66732528-Reference-G;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Variant A ataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag AAGACGAGGCGT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAaagacgaggcgtAGATCGAGACCCGACGC chr8:66732528-Variant-A;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative T ataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CGACAACTCGCA CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAcgacaactcgcaAGATCGAGACCCGACGC chr8:66732528-Alternative-T;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative T ataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ACCACACCTATT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAaccacacctattAGATCGAGACCCGACGC chr8:66732528-Alternative-T;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative C ataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CGGTAACTTAGG CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAcggtaacttaggAGATCGAGACCCGACGC chr8:66732528-Alternative-C;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Variant A ataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ATCGAGATTGGT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAatcgagattggtAGATCGAGACCCGACGC chr8:66732528-Variant-A;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative T ataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag AGCAACTAACCG CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAagcaactaaccgAGATCGAGACCCGACGC chr8:66732528-Alternative-T;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative C ataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag GGATCGAGTAAT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAggatcgagtaatAGATCGAGACCCGACGC chr8:66732528-Alternative-C;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Variant A ataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CGGACGGCAATA CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAcggacggcaataAGATCGAGACCCGACGC chr8:66732528-Variant-A;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative T ataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ATACGGCCATAT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaTgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAatacggccatatAGATCGAGACCCGACGC chr8:66732528-Alternative-T;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Reference G ataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag GTACTGACGTCG CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAgtactgacgtcgAGATCGAGACCCGACGC chr8:66732528-Reference-G;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative C ataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag ACTTCCTGGTAT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAacttcctggtatAGATCGAGACCCGACGC chr8:66732528-Alternative-C;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative C ataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CGATTAGCGTTC CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAcgattagcgttcAGATCGAGACCCGACGC chr8:66732528-Alternative-C;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Alternative C ataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag GGTTGTCGATGC CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaCgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAggttgtcgatgcAGATCGAGACCCGACGC chr8:66732528-Alternative-C;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Variant A ataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CACTTACGCGCT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaAgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAcacttacgcgctAGATCGAGACCCGACGC chr8:66732528-Variant-A;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Reference G ataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag CTGTGCACACGA CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAActgtgcacacgaAGATCGAGACCCGACGC chr8:66732528-Reference-G;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Reference G ataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag AAGATTCCGTGT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAaagattccgtgtAGATCGAGACCCGACGC chr8:66732528-Reference-G;Patient-89 chr8:66732528-GA Inherited Patient-89 intronic PDE7A NA 4.95e-05 0.1 4.24 0.22 PDE7A 21440 Reference G ataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgag GTGTAAGTGCTT CGACGCGGTCTCTCTCTataattagcgggacatggtggcacatgccagtagttccagctactcaagaGgctggggtgggaggactgcttgagtccaggatgcggaggttgctgtgagAGAGGGAGACGGACGTCTCAATAAgtgtaagtgcttAGATCGAGACCCGACGC chr8:66732528-Reference-G;Patient-89 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative T ggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AGTTAGCGGTGG CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAagttagcggtggAGATCGAGACCCGACGC chr8:66844585-Alternative-T;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative T ggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg ATACGTGGACGG CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAatacgtggacggAGATCGAGACCCGACGC chr8:66844585-Alternative-T;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Reference A ggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GGTCAATAGCGG CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAggtcaatagcggAGATCGAGACCCGACGC chr8:66844585-Reference-A;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Variant G ggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CGATCATCCGCT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAcgatcatccgctAGATCGAGACCCGACGC chr8:66844585-Variant-G;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Variant G ggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GTATATCGTGGT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAgtatatcgtggtAGATCGAGACCCGACGC chr8:66844585-Variant-G;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative T ggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AATCTGCCGGAC CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAaatctgccggacAGATCGAGACCCGACGC chr8:66844585-Alternative-T;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Variant G ggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GTTATGACCGCA CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAgttatgaccgcaAGATCGAGACCCGACGC chr8:66844585-Variant-G;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative T ggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CATCGGCAATCG CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAcatcggcaatcgAGATCGAGACCCGACGC chr8:66844585-Alternative-T;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Reference A ggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AGGCTAACAGAT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAaggctaacagatAGATCGAGACCCGACGC chr8:66844585-Reference-A;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Variant G ggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GTTACGCGATAA CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAgttacgcgataaAGATCGAGACCCGACGC chr8:66844585-Variant-G;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative C ggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CTCAACAAGTAC CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAActcaacaagtacAGATCGAGACCCGACGC chr8:66844585-Alternative-C;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative C ggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GATCCTCGCTGT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAgatcctcgctgtAGATCGAGACCCGACGC chr8:66844585-Alternative-C;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Variant G ggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg ATCGTTGTTCCA CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaGtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAatcgttgttccaAGATCGAGACCCGACGC chr8:66844585-Variant-G;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative T ggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CATCTACGGCGA CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaTtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAcatctacggcgaAGATCGAGACCCGACGC chr8:66844585-Alternative-T;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Reference A ggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CATCTAACCTGA CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAcatctaacctgaAGATCGAGACCCGACGC chr8:66844585-Reference-A;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Reference A ggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AGTTCAACGACG CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAagttcaacgacgAGATCGAGACCCGACGC chr8:66844585-Reference-A;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative C ggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AGAGGTAACGTT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAagaggtaacgttAGATCGAGACCCGACGC chr8:66844585-Alternative-C;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative C ggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg AGTTACGGCGCT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAagttacggcgctAGATCGAGACCCGACGC chr8:66844585-Alternative-C;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Alternative C ggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg CATAGGCTGCGT CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaCtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAcataggctgcgtAGATCGAGACCCGACGC chr8:66844585-Alternative-C;Patient-33 chr8:66844585-AG DeNovo Patient-33 intergenic 0.000382 0.000513 NA NA NA PDE7A 90615 Reference A ggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctg GCGGTTGTGAAC CGACGCGGTCTCTCTCTggggggagggatagcattaggagatataactaatgctaaatgacgagttaAtgggtacagcacaccaacatggcacatgtatacatatgtaacaaacctgAGAGGGAGACGGACGTCTCAATAAgcggttgtgaacAGATCGAGACCCGACGC chr8:66844585-Reference-A;Patient-33 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative T tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CTTACGTAAGGT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAActtacgtaaggtAGATCGAGACCCGACGC chr8:67287433-Alternative-T;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative T tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt AGGCTACGTACC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAaggctacgtaccAGATCGAGACCCGACGC chr8:67287433-Alternative-T;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative T tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GTATCAATGTGC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAgtatcaatgtgcAGATCGAGACCCGACGC chr8:67287433-Alternative-T;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Variant A tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt AAGGAGGTTCGC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAaaggaggttcgcAGATCGAGACCCGACGC chr8:67287433-Variant-A;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Variant A tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CGGCACAATACT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAcggcacaatactAGATCGAGACCCGACGC chr8:67287433-Variant-A;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative T tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt ACACGTGCCGAA CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAacacgtgccgaaAGATCGAGACCCGACGC chr8:67287433-Alternative-T;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Variant A tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GGTGACTTACGC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAggtgacttacgcAGATCGAGACCCGACGC chr8:67287433-Variant-A;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative T tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GACAACGGAGCT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacTcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAgacaacggagctAGATCGAGACCCGACGC chr8:67287433-Alternative-T;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative G tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt AACAGCTAGCAA CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAaacagctagcaaAGATCGAGACCCGACGC chr8:67287433-Alternative-G;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative G tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt ATTACCACGGAC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAattaccacggacAGATCGAGACCCGACGC chr8:67287433-Alternative-G;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Variant A tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GGTACCTCAATA CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAggtacctcaataAGATCGAGACCCGACGC chr8:67287433-Variant-A;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Variant A tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GGCGAACGTTCA CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacAcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAggcgaacgttcaAGATCGAGACCCGACGC chr8:67287433-Variant-A;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative G tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CAGGTGTCACGT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAcaggtgtcacgtAGATCGAGACCCGACGC chr8:67287433-Alternative-G;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Reference C tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CGACTCGATTAA CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAcgactcgattaaAGATCGAGACCCGACGC chr8:67287433-Reference-C;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Reference C tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GGTCTGAAGGAT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAggtctgaaggatAGATCGAGACCCGACGC chr8:67287433-Reference-C;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Reference C tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CATAGCTTGGCG CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAcatagcttggcgAGATCGAGACCCGACGC chr8:67287433-Reference-C;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Reference C tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt CACGAATTACAC CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAcacgaattacacAGATCGAGACCCGACGC chr8:67287433-Reference-C;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Reference C tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GGCTCTGCTTGT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacCcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAggctctgcttgtAGATCGAGACCCGACGC chr8:67287433-Reference-C;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative G tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt GTTGGAGCAACG CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAgttggagcaacgAGATCGAGACCCGACGC chr8:67287433-Alternative-G;Patient-101 chr8:67287433-CA DeNovo Patient-101 intergenic NA 0.000512821 -0.19 0.75 -3.85 RRS1 53829 Alternative G tcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaatt AGTGCCGACTAT CGACGCGGTCTCTCTCTtcactccctgttcaaacctctcccagtacccctccttcctcaattcccacGcaaggaggaagccacatttttttgaagccatgagctcaaacacagaattAGAGGGAGACGGACGTCTCAATAAagtgccgactatAGATCGAGACCCGACGC chr8:67287433-Alternative-G;Patient-101 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Reference A ctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt GGTTCGTCGAGT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAggttcgtcgagtAGATCGAGACCCGACGC chr8:67782420-Reference-A;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative C ctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt GCGTATAGGTAA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAgcgtataggtaaAGATCGAGACCCGACGC chr8:67782420-Alternative-C;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Reference A ctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt ACAGGCTCTGAC CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAacaggctctgacAGATCGAGACCCGACGC chr8:67782420-Reference-A;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative C ctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt ACAGCGTCAATC CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAacagcgtcaatcAGATCGAGACCCGACGC chr8:67782420-Alternative-C;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative C ctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt GATACAGGTCAA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAgatacaggtcaaAGATCGAGACCCGACGC chr8:67782420-Alternative-C;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative C ctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CAGCAATGTCAT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcagcaatgtcatAGATCGAGACCCGACGC chr8:67782420-Alternative-C;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Reference A ctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AGCATACTCAGT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAagcatactcagtAGATCGAGACCCGACGC chr8:67782420-Reference-A;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative C ctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CGCGTTACGTGT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacCcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcgcgttacgtgtAGATCGAGACCCGACGC chr8:67782420-Alternative-C;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Reference A ctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AGTACACGTACT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAagtacacgtactAGATCGAGACCCGACGC chr8:67782420-Reference-A;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Variant G ctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AGCTCGATCGCA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAagctcgatcgcaAGATCGAGACCCGACGC chr8:67782420-Variant-G;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative T ctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AGGTGGACGTCA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAaggtggacgtcaAGATCGAGACCCGACGC chr8:67782420-Alternative-T;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Variant G ctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CAAGTATAGTGG CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcaagtatagtggAGATCGAGACCCGACGC chr8:67782420-Variant-G;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative T ctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CGGCTTACATAA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcggcttacataaAGATCGAGACCCGACGC chr8:67782420-Alternative-T;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Variant G ctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AAGTTGGTCGTT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAaagttggtcgttAGATCGAGACCCGACGC chr8:67782420-Variant-G;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative T ctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CATTGCGCGACT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcattgcgcgactAGATCGAGACCCGACGC chr8:67782420-Alternative-T;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative T ctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AATCTAGGACCT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAaatctaggacctAGATCGAGACCCGACGC chr8:67782420-Alternative-T;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Reference A ctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CATCACGGTCCT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacAcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcatcacggtcctAGATCGAGACCCGACGC chr8:67782420-Reference-A;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Alternative T ctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt CGTTGCAAGTGT CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacTcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAcgttgcaagtgtAGATCGAGACCCGACGC chr8:67782420-Alternative-T;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Variant G ctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt AGACGGCTACGA CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAagacggctacgaAGATCGAGACCCGACGC chr8:67782420-Variant-G;Patient-22 chr8:67782420-AG Inherited Patient-22 intergenic 3.2e-05 0.000513 0.26 6.64 2.29 MCMDC2 563 Variant G ctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggtt GACATACCGGAG CGACGCGGTCTCTCTCTctttccttatggattcgcctattctggacatttcatataaacaaaattacGcaacatatggccttttgtgtctggcttcttacatagtgtttgccaggttAGAGGGAGACGGACGTCTCAATAAgacataccggagAGATCGAGACCCGACGC chr8:67782420-Variant-G;Patient-22 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative C cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CGGCCTTAACCA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcggccttaaccaAGATCGAGACCCGACGC chr8:68015772-Alternative-C;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative C cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CGATTCGACGGT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcgattcgacggtAGATCGAGACCCGACGC chr8:68015772-Alternative-C;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative C cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GGCCGATAGCTT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAggccgatagcttAGATCGAGACCCGACGC chr8:68015772-Alternative-C;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative C cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CGTTCTCATTCT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcgttctcattctAGATCGAGACCCGACGC chr8:68015772-Alternative-C;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Reference G cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CACGTGACTAAT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcacgtgactaatAGATCGAGACCCGACGC chr8:68015772-Reference-G;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Variant A cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GTATTACCACGA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAgtattaccacgaAGATCGAGACCCGACGC chr8:68015772-Variant-A;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Reference G cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CAGTAGTATGAG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcagtagtatgagAGATCGAGACCCGACGC chr8:68015772-Reference-G;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Reference G cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CGCTCAAGGTAA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcgctcaaggtaaAGATCGAGACCCGACGC chr8:68015772-Reference-G;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Variant A cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CTATAACGGACG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAActataacggacgAGATCGAGACCCGACGC chr8:68015772-Variant-A;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Reference G cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag ACAATGGTCAAG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAacaatggtcaagAGATCGAGACCCGACGC chr8:68015772-Reference-G;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Reference G cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GCGCTAGAACAC CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctGtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAgcgctagaacacAGATCGAGACCCGACGC chr8:68015772-Reference-G;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative T cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CGGTAGGATGCT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcggtaggatgctAGATCGAGACCCGACGC chr8:68015772-Alternative-T;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative T cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GTCGCCGATTCT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAgtcgccgattctAGATCGAGACCCGACGC chr8:68015772-Alternative-T;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative T cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CTGTTCGTAGCG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAActgttcgtagcgAGATCGAGACCCGACGC chr8:68015772-Alternative-T;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Variant A cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag AGATCAAGCGCA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAagatcaagcgcaAGATCGAGACCCGACGC chr8:68015772-Variant-A;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative T cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag ATTGCGTGGTCG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAattgcgtggtcgAGATCGAGACCCGACGC chr8:68015772-Alternative-T;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Variant A cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GTGGCAGTTGCT CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAgtggcagttgctAGATCGAGACCCGACGC chr8:68015772-Variant-A;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative T cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag CAATTACGGACA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctTtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAcaattacggacaAGATCGAGACCCGACGC chr8:68015772-Alternative-T;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Variant A cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag AAGTGTAACACG CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctAtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAaagtgtaacacgAGATCGAGACCCGACGC chr8:68015772-Variant-A;Patient-100 chr8:68015772-GA DeNovo Patient-100 intronic CSPP1 0.000642 0.000628 0.13 4.69 0.24 CSPP1 39168 Alternative C cttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcag GGCTGATCACCA CGACGCGGTCTCTCTCTcttgactggaaataaattgaaaatgtggccgggcctggtggctcatgcctCtaatcccagcattttgggaagccgatgcaggcggatcacttgaggtcagAGAGGGAGACGGACGTCTCAATAAggctgatcaccaAGATCGAGACCCGACGC chr8:68015772-Alternative-C;Patient-100 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Reference C atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CGGCAGTTATGC CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAcggcagttatgcAGATCGAGACCCGACGC chr8:71261679-Reference-C;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Variant G atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GGTAGGTAGTAT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAggtaggtagtatAGATCGAGACCCGACGC chr8:71261679-Variant-G;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Variant G atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ATCGATTACGAG CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAatcgattacgagAGATCGAGACCCGACGC chr8:71261679-Variant-G;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative T atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CAGCTAATTGCA CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAcagctaattgcaAGATCGAGACCCGACGC chr8:71261679-Alternative-T;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Variant G atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ACATCGACCAAC CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAacatcgaccaacAGATCGAGACCCGACGC chr8:71261679-Variant-G;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Variant G atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CTAAGGTTACGC CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAActaaggttacgcAGATCGAGACCCGACGC chr8:71261679-Variant-G;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative T atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CTATCCTACCGA CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAActatcctaccgaAGATCGAGACCCGACGC chr8:71261679-Alternative-T;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative T atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GAGCATCTTCCT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAgagcatcttcctAGATCGAGACCCGACGC chr8:71261679-Alternative-T;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative T atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CAGGCTACTAAT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAcaggctactaatAGATCGAGACCCGACGC chr8:71261679-Alternative-T;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative T atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GAGTGCGCGATT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacTtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAgagtgcgcgattAGATCGAGACCCGACGC chr8:71261679-Alternative-T;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Reference C atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat AGAGCAACCAAG CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAagagcaaccaagAGATCGAGACCCGACGC chr8:71261679-Reference-C;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Variant G atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ATACTAAGGCCA CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacGtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAatactaaggccaAGATCGAGACCCGACGC chr8:71261679-Variant-G;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative A atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ATAACTCACGAC CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAataactcacgacAGATCGAGACCCGACGC chr8:71261679-Alternative-A;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Reference C atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GACGTCGGCTAA CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAgacgtcggctaaAGATCGAGACCCGACGC chr8:71261679-Reference-C;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative A atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GTACTATCCAAG CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAgtactatccaagAGATCGAGACCCGACGC chr8:71261679-Alternative-A;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative A atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat AGATTCTTGACC CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAagattcttgaccAGATCGAGACCCGACGC chr8:71261679-Alternative-A;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Reference C atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat GTAGGACGGCAT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAgtaggacggcatAGATCGAGACCCGACGC chr8:71261679-Reference-C;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Reference C atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat CTATCGTGTACT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacCtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAActatcgtgtactAGATCGAGACCCGACGC chr8:71261679-Reference-C;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative A atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ACTGAGCATAGT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAactgagcatagtAGATCGAGACCCGACGC chr8:71261679-Alternative-A;Patient-33 chr8:71261679-CG DeNovo Patient-33 intronic NCOA2 NA 0.00016 NA NA NA NCOA2 54340 Alternative A atgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaat ATAGTTCCGCTT CGACGCGGTCTCTCTCTatgttaccaaaattatctcaagttaaatttaaaaatctatgaatttttacAtgagatcccctaacaaataaaaaaagcaaaactgtataatcatgtcaatAGAGGGAGACGGACGTCTCAATAAatagttccgcttAGATCGAGACCCGACGC chr8:71261679-Alternative-A;Patient-33 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Variant T ccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CGAACATAACAG CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcgaacataacagAGATCGAGACCCGACGC chr8:71466662-Variant-T;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative G ccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GACCAATTGAGA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAgaccaattgagaAGATCGAGACCCGACGC chr8:71466662-Alternative-G;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative G ccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa ATCTGCGCTCCT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAatctgcgctcctAGATCGAGACCCGACGC chr8:71466662-Alternative-G;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative G ccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GGCGATAGCGAT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAggcgatagcgatAGATCGAGACCCGACGC chr8:71466662-Alternative-G;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative G ccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GATAATGGCGGC CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAgataatggcggcAGATCGAGACCCGACGC chr8:71466662-Alternative-G;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative G ccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CGGATCGCATTC CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcGtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcggatcgcattcAGATCGAGACCCGACGC chr8:71466662-Alternative-G;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Reference A ccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GGTACGAATCAT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAggtacgaatcatAGATCGAGACCCGACGC chr8:71466662-Reference-A;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Variant T ccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa AGACGCAATCTT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAagacgcaatcttAGATCGAGACCCGACGC chr8:71466662-Variant-T;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Variant T ccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GTGGCTTGTGGT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAgtggcttgtggtAGATCGAGACCCGACGC chr8:71466662-Variant-T;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative C ccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GCGGTTATTCGG CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAgcggttattcggAGATCGAGACCCGACGC chr8:71466662-Alternative-C;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Variant T ccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa AGCAGCACATGG CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAagcagcacatggAGATCGAGACCCGACGC chr8:71466662-Variant-T;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Reference A ccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CATAAGACCTAC CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcataagacctacAGATCGAGACCCGACGC chr8:71466662-Reference-A;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative C ccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CGGATCATTACA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcggatcattacaAGATCGAGACCCGACGC chr8:71466662-Alternative-C;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Reference A ccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa AGGAATTAGTCG CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAaggaattagtcgAGATCGAGACCCGACGC chr8:71466662-Reference-A;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Variant T ccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa ACTTCGGCACGA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcTtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAacttcggcacgaAGATCGAGACCCGACGC chr8:71466662-Variant-T;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Reference A ccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CAATTGACGTAC CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcaattgacgtacAGATCGAGACCCGACGC chr8:71466662-Reference-A;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Reference A ccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa GCGGAACTCCAA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcAtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAgcggaactccaaAGATCGAGACCCGACGC chr8:71466662-Reference-A;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative C ccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa AGGACGTCTATT CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAaggacgtctattAGATCGAGACCCGACGC chr8:71466662-Alternative-C;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative C ccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa AGCGGATTCCGA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAagcggattccgaAGATCGAGACCCGACGC chr8:71466662-Alternative-C;Patient-98 chr8:71466662-AT DeNovo Patient-98 intergenic NA 0.000513 0.14 4.87 1.77 TRAM1 54031 Alternative C ccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataa CGCAACGGATGA CGACGCGGTCTCTCTCTccaactgggacttatccatcgataaatattagcaatatatactgaatttcCtgcaatctaagaattcgtcagtgtcttagtctactttgtgaagctataaAGAGGGAGACGGACGTCTCAATAAcgcaacggatgaAGATCGAGACCCGACGC chr8:71466662-Alternative-C;Patient-98 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative C ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GACATTACGGAA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgacattacggaaAGATCGAGACCCGACGC chr8:72204684-Alternative-C;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative C ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagag AAGACGTAGAAG CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAaagacgtagaagAGATCGAGACCCGACGC chr8:72204684-Alternative-C;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative C ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagag ATTGTGCGTCAA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAattgtgcgtcaaAGATCGAGACCCGACGC chr8:72204684-Alternative-C;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Reference A ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GGACGTTCGCAT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAggacgttcgcatAGATCGAGACCCGACGC chr8:72204684-Reference-A;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Reference A ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagag ATCGGAGCACAC CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAatcggagcacacAGATCGAGACCCGACGC chr8:72204684-Reference-A;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Reference A ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GCAAGCTGGTAC CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgcaagctggtacAGATCGAGACCCGACGC chr8:72204684-Reference-A;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Reference A ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GTTGACTGCCAC CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgttgactgccacAGATCGAGACCCGACGC chr8:72204684-Reference-A;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative C ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GGTGAACTGGCA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAggtgaactggcaAGATCGAGACCCGACGC chr8:72204684-Alternative-C;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative C ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagag CGTATATGCGAA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgCttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAcgtatatgcgaaAGATCGAGACCCGACGC chr8:72204684-Alternative-C;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative G ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagag CTACGTGCATGA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAActacgtgcatgaAGATCGAGACCCGACGC chr8:72204684-Alternative-G;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Reference A ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GTGTTGGCGCTT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgAttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgtgttggcgcttAGATCGAGACCCGACGC chr8:72204684-Reference-A;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Variant T ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GCGAATCACGCA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgcgaatcacgcaAGATCGAGACCCGACGC chr8:72204684-Variant-T;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Variant T ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagag AAGTCCGACAGT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAaagtccgacagtAGATCGAGACCCGACGC chr8:72204684-Variant-T;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Variant T ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagag AGCGTGATATGT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAagcgtgatatgtAGATCGAGACCCGACGC chr8:72204684-Variant-T;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Variant T ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagag ACCTTGGATAAC CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAaccttggataacAGATCGAGACCCGACGC chr8:72204684-Variant-T;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Variant T ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GCGTTCCAATAA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgTttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgcgttccaataaAGATCGAGACCCGACGC chr8:72204684-Variant-T;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative G ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagag CGGCTCCTATAT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAcggctcctatatAGATCGAGACCCGACGC chr8:72204684-Alternative-G;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative G ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GGTTACAAGTCA CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAggttacaagtcaAGATCGAGACCCGACGC chr8:72204684-Alternative-G;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative G ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagag CGAATAGCAGGT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAcgaatagcaggtAGATCGAGACCCGACGC chr8:72204684-Alternative-G;Patient-12 chr8:72204684-AT DeNovo Patient-12 intronic EYA1 0.000638 0.000148 NA NA NA EYA1 69782 Alternative G ttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagag GACCGTGACGTT CGACGCGGTCTCTCTCTttatttaaagtaatcatggatttcattgtgacactgtcttacagtctttgGttgaacaaggaaaactagttggttctgatcaaaattttattttatagagAGAGGGAGACGGACGTCTCAATAAgaccgtgacgttAGATCGAGACCCGACGC chr8:72204684-Alternative-G;Patient-12 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Reference C atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata ACCGGTAGTACA CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAaccggtagtacaAGATCGAGACCCGACGC chr8:72325847-Reference-C;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Reference C atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GAATGAAGACGA CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAgaatgaagacgaAGATCGAGACCCGACGC chr8:72325847-Reference-C;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Reference C atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata AGGTTAGCGCAC CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAaggttagcgcacAGATCGAGACCCGACGC chr8:72325847-Reference-C;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Reference C atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata CATCTCTAGCCA CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAcatctctagccaAGATCGAGACCCGACGC chr8:72325847-Reference-C;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative T atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GTTCAAGTCGAC CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAgttcaagtcgacAGATCGAGACCCGACGC chr8:72325847-Alternative-T;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative G atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GCGCACCATAGT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAgcgcaccatagtAGATCGAGACCCGACGC chr8:72325847-Alternative-G;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Variant A atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata ACGCAACCGACT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAacgcaaccgactAGATCGAGACCCGACGC chr8:72325847-Variant-A;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Variant A atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GTGTCGTGAATT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAgtgtcgtgaattAGATCGAGACCCGACGC chr8:72325847-Variant-A;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative T atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata AACGACCGTCGT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAaacgaccgtcgtAGATCGAGACCCGACGC chr8:72325847-Alternative-T;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative T atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata CGGTCGTCTTCT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAcggtcgtcttctAGATCGAGACCCGACGC chr8:72325847-Alternative-T;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative T atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata AAGGCCAATGAT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAaaggccaatgatAGATCGAGACCCGACGC chr8:72325847-Alternative-T;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative G atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GAATTGTTAGCG CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAgaattgttagcgAGATCGAGACCCGACGC chr8:72325847-Alternative-G;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Variant A atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GGACGTTAAGAT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAggacgttaagatAGATCGAGACCCGACGC chr8:72325847-Variant-A;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Variant A atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata CATCTCTCAAGT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAcatctctcaagtAGATCGAGACCCGACGC chr8:72325847-Variant-A;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative G atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata CACTAGCGCAAG CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAcactagcgcaagAGATCGAGACCCGACGC chr8:72325847-Alternative-G;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Reference C atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GGCTTCGCAACA CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcCattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAggcttcgcaacaAGATCGAGACCCGACGC chr8:72325847-Reference-C;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative G atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata GGTTATTCTAGG CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAggttattctaggAGATCGAGACCCGACGC chr8:72325847-Alternative-G;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Variant A atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata ATCGAGTTAACC CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcAattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAatcgagttaaccAGATCGAGACCCGACGC chr8:72325847-Variant-A;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative G atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata ACCTACGCGGTT CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcGattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAacctacgcggttAGATCGAGACCCGACGC chr8:72325847-Alternative-G;Patient-13 chr8:72325847-CA DeNovo Patient-13 intergenic NA 6.28e-05 -0.15 1.02 -2.57 EYA1 51379 Alternative T atatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaata CGGAGTCTCGAA CGACGCGGTCTCTCTCTatatgcagacttaaaacaaccttctctatgtcacaaattatataaatagcTattttctgattataaacaaaggaaaaatgcaaactgtatatgcaaaataAGAGGGAGACGGACGTCTCAATAAcggagtctcgaaAGATCGAGACCCGACGC chr8:72325847-Alternative-T;Patient-13 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Variant G gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa GGTATCACAACG CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAggtatcacaacgAGATCGAGACCCGACGC chr8:72350053-Variant-G;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Variant G gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AGTGCGGTGGAA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAagtgcggtggaaAGATCGAGACCCGACGC chr8:72350053-Variant-G;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Variant G gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AGACGGTAGAGT CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAagacggtagagtAGATCGAGACCCGACGC chr8:72350053-Variant-G;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative T gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa CGAGTACTTAAC CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAcgagtacttaacAGATCGAGACCCGACGC chr8:72350053-Alternative-T;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative T gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa CAGGACAGCCAA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAcaggacagccaaAGATCGAGACCCGACGC chr8:72350053-Alternative-T;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Variant G gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa CGATAGCCGACT CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAcgatagccgactAGATCGAGACCCGACGC chr8:72350053-Variant-G;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative T gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AGGTAGGAGAAG CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAaggtaggagaagAGATCGAGACCCGACGC chr8:72350053-Alternative-T;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative T gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AAGAAGTTCGCT CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAaagaagttcgctAGATCGAGACCCGACGC chr8:72350053-Alternative-T;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative T gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa CTTACCTGTCGG CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaTaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAActtacctgtcggAGATCGAGACCCGACGC chr8:72350053-Alternative-T;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Reference A gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa ACTTCGTGTTCA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAacttcgtgttcaAGATCGAGACCCGACGC chr8:72350053-Reference-A;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Reference A gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa ATTCTCCGATCA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAattctccgatcaAGATCGAGACCCGACGC chr8:72350053-Reference-A;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Reference A gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AAGTGACCGTAA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAaagtgaccgtaaAGATCGAGACCCGACGC chr8:72350053-Reference-A;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Reference A gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa GAGCATGACGAC CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAgagcatgacgacAGATCGAGACCCGACGC chr8:72350053-Reference-A;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative C gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AGTCGACATTCA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAagtcgacattcaAGATCGAGACCCGACGC chr8:72350053-Alternative-C;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative C gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa ACAGCTATGTCA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAacagctatgtcaAGATCGAGACCCGACGC chr8:72350053-Alternative-C;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative C gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa AGGTAGGCCAAG CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAaggtaggccaagAGATCGAGACCCGACGC chr8:72350053-Alternative-C;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Reference A gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa ACGTAACGACGT CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaAaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAacgtaacgacgtAGATCGAGACCCGACGC chr8:72350053-Reference-A;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Variant G gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa GTTCGACAGACA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaGaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAgttcgacagacaAGATCGAGACCCGACGC chr8:72350053-Variant-G;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative C gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa ATTGCAGGTACG CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAattgcaggtacgAGATCGAGACCCGACGC chr8:72350053-Alternative-C;Patient-35 chr8:72350053-AG DeNovo Patient-35 intergenic NA 6.28e-05 -0.15 1.02 -1.81 EYA1 75585 Alternative C gactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaa GGTATGAACTGA CGACGCGGTCTCTCTCTgactgttgacaaacagtaccagatgatctgaagagactacatattgaaaaCaaaatgacataggagttctataccatgagacaagcagttggaaaaacaaAGAGGGAGACGGACGTCTCAATAAggtatgaactgaAGATCGAGACCCGACGC chr8:72350053-Alternative-C;Patient-35 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Reference C aaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattgga CACTGAGCACAC CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAcactgagcacacAGATCGAGACCCGACGC chr8:72659012-Reference-C;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Variant A aaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattgga GCGAATCGGTAC CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAgcgaatcggtacAGATCGAGACCCGACGC chr8:72659012-Variant-A;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Reference C aaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattgga AAGCGGATTCTT CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAaagcggattcttAGATCGAGACCCGACGC chr8:72659012-Reference-C;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Reference C aaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattgga ATAGGTACGGCG CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAataggtacggcgAGATCGAGACCCGACGC chr8:72659012-Reference-C;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Variant A aaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattgga AAGACCTGTTGT CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAaagacctgttgtAGATCGAGACCCGACGC chr8:72659012-Variant-A;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative T aaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattgga AACGATGCCGCA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAaacgatgccgcaAGATCGAGACCCGACGC chr8:72659012-Alternative-T;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative T aaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattgga ACAACGACGATA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAacaacgacgataAGATCGAGACCCGACGC chr8:72659012-Alternative-T;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Reference C aaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattgga CTCTCGCTAGCA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAActctcgctagcaAGATCGAGACCCGACGC chr8:72659012-Reference-C;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Variant A aaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattgga GCAAGTGTCACT CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAgcaagtgtcactAGATCGAGACCCGACGC chr8:72659012-Variant-A;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Variant A aaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattgga GGTTGGATCGAG CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAggttggatcgagAGATCGAGACCCGACGC chr8:72659012-Variant-A;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Reference C aaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattgga GATGTGTTGCGG CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataCtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAgatgtgttgcggAGATCGAGACCCGACGC chr8:72659012-Reference-C;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Variant A aaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattgga AATACCAAGCGA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataAtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAaataccaagcgaAGATCGAGACCCGACGC chr8:72659012-Variant-A;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative G aaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattgga CTTACCACCGAC CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAActtaccaccgacAGATCGAGACCCGACGC chr8:72659012-Alternative-G;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative G aaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattgga GGCTAACCGCTT CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAggctaaccgcttAGATCGAGACCCGACGC chr8:72659012-Alternative-G;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative T aaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattgga CTTAGACGCGAC CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAActtagacgcgacAGATCGAGACCCGACGC chr8:72659012-Alternative-T;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative T aaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattgga AGACGTTCTGAG CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAagacgttctgagAGATCGAGACCCGACGC chr8:72659012-Alternative-T;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative G aaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattgga ATAGCTCACGAG CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAatagctcacgagAGATCGAGACCCGACGC chr8:72659012-Alternative-G;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative G aaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattgga GAGTATCAGCTA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAgagtatcagctaAGATCGAGACCCGACGC chr8:72659012-Alternative-G;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative T aaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattgga CTTGTTCGATCA CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataTtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAActtgttcgatcaAGATCGAGACCCGACGC chr8:72659012-Alternative-T;Patient-88 chr8:72659012-CA DeNovo Patient-88 intergenic 0.000764 0.00103 -0.16 0.91 0.8 MSC 97718 Alternative G aaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattgga ACTTCGAACGGT CGACGCGGTCTCTCTCTaaattttaaactttacttttccataaatttgtaaggaacttatgccaataGtcaaataactaattgtaggagagttggattataaatttaatgtattggaAGAGGGAGACGGACGTCTCAATAAacttcgaacggtAGATCGAGACCCGACGC chr8:72659012-Alternative-G;Patient-88 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Variant A ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CAATAGTACGGC CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAcaatagtacggcAGATCGAGACCCGACGC chr8:73042933-Variant-A;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Reference T ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CGACGACGTTCA CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAcgacgacgttcaAGATCGAGACCCGACGC chr8:73042933-Reference-T;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Variant A ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac ACCGGTGAACGT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAaccggtgaacgtAGATCGAGACCCGACGC chr8:73042933-Variant-A;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative G ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CTTATTCTCCGT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAActtattctccgtAGATCGAGACCCGACGC chr8:73042933-Alternative-G;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Reference T ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CGGATGATGACC CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAcggatgatgaccAGATCGAGACCCGACGC chr8:73042933-Reference-T;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Reference T ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GGCGGATCATTC CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAggcggatcattcAGATCGAGACCCGACGC chr8:73042933-Reference-T;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Reference T ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac AGCGTGAACTAA CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAagcgtgaactaaAGATCGAGACCCGACGC chr8:73042933-Reference-T;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Variant A ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac AATAGCTCGTAC CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAaatagctcgtacAGATCGAGACCCGACGC chr8:73042933-Variant-A;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative G ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GACCGTAGCCAT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAgaccgtagccatAGATCGAGACCCGACGC chr8:73042933-Alternative-G;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative C ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CTCGTTCCGTCT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAActcgttccgtctAGATCGAGACCCGACGC chr8:73042933-Alternative-C;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Variant A ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GTTAGCGTGATT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAgttagcgtgattAGATCGAGACCCGACGC chr8:73042933-Variant-A;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative G ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CGCATTCTAGAA CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAcgcattctagaaAGATCGAGACCCGACGC chr8:73042933-Alternative-G;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative G ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GGATCTACTCGG CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAggatctactcggAGATCGAGACCCGACGC chr8:73042933-Alternative-G;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative C ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac ACGACATAGCAA CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAacgacatagcaaAGATCGAGACCCGACGC chr8:73042933-Alternative-C;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Variant A ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CTCTTGTCGACG CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggAcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAActcttgtcgacgAGATCGAGACCCGACGC chr8:73042933-Variant-A;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative G ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GTCCGTTGTTCG CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggGcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAgtccgttgttcgAGATCGAGACCCGACGC chr8:73042933-Alternative-G;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Reference T ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac AGCAATGCTTCT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggTcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAagcaatgcttctAGATCGAGACCCGACGC chr8:73042933-Reference-T;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative C ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac AGAGCCTTAGCT CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAagagccttagctAGATCGAGACCCGACGC chr8:73042933-Alternative-C;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative C ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac CATTACGACGGC CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAcattacgacggcAGATCGAGACCCGACGC chr8:73042933-Alternative-C;Patient-28 chr8:73042933-TA DeNovo Patient-28 intergenic 0.000319 0.00103 0.14 4.88 0.87 TRPA1 55113 Alternative C ggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaac GCCGGTAGGTAA CGACGCGGTCTCTCTCTggttgatttgtatggttcagttatagaacaatggctttggtatcatatggCcctgctaattctgactgctccacttaccatgtgagaaacctccctgaacAGAGGGAGACGGACGTCTCAATAAgccggtaggtaaAGATCGAGACCCGACGC chr8:73042933-Alternative-C;Patient-28 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Variant G gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctg AATACGTCGTGT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAaatacgtcgtgtAGATCGAGACCCGACGC chr8:73078075-Variant-G;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Variant G gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctg ACTCTTGCGTCC CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAactcttgcgtccAGATCGAGACCCGACGC chr8:73078075-Variant-G;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Variant G gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctg AAGTGATAGTCG CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAaagtgatagtcgAGATCGAGACCCGACGC chr8:73078075-Variant-G;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Variant G gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctg CGCTTAGCTTAT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAcgcttagcttatAGATCGAGACCCGACGC chr8:73078075-Variant-G;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Reference T gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctg ACGACCAGTAGT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAacgaccagtagtAGATCGAGACCCGACGC chr8:73078075-Reference-T;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Variant G gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctg GTACACTCGCAT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttGttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAgtacactcgcatAGATCGAGACCCGACGC chr8:73078075-Variant-G;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Reference T gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctg ACCGTTCTCCGA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAaccgttctccgaAGATCGAGACCCGACGC chr8:73078075-Reference-T;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Reference T gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctg AGTTCAACGCTT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAagttcaacgcttAGATCGAGACCCGACGC chr8:73078075-Reference-T;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Reference T gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctg CTCTAAGTGTTC CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAActctaagtgttcAGATCGAGACCCGACGC chr8:73078075-Reference-T;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Reference T gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctg ACACGTACAGAA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttTttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAacacgtacagaaAGATCGAGACCCGACGC chr8:73078075-Reference-T;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative A gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctg CAGCGGTTGTGT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAcagcggttgtgtAGATCGAGACCCGACGC chr8:73078075-Alternative-A;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative A gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctg ATCTGGTAGCTA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAatctggtagctaAGATCGAGACCCGACGC chr8:73078075-Alternative-A;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative C gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctg GACTAATCATGC CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAgactaatcatgcAGATCGAGACCCGACGC chr8:73078075-Alternative-C;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative A gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctg CGAGTGTAATGA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAcgagtgtaatgaAGATCGAGACCCGACGC chr8:73078075-Alternative-A;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative C gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctg GTTCGAGGTACA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAgttcgaggtacaAGATCGAGACCCGACGC chr8:73078075-Alternative-C;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative C gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctg AGTTGTGACATC CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAagttgtgacatcAGATCGAGACCCGACGC chr8:73078075-Alternative-C;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative A gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctg ACGCGGTCTGAA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAacgcggtctgaaAGATCGAGACCCGACGC chr8:73078075-Alternative-A;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative C gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctg CTCGCACTACAC CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAActcgcactacacAGATCGAGACCCGACGC chr8:73078075-Alternative-C;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative A gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctg AGTACCGTCGCA CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttAttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAAagtaccgtcgcaAGATCGAGACCCGACGC chr8:73078075-Alternative-A;Patient-72 chr8:73078075-TG DeNovo Patient-72 intergenic NA 0.000513 0.18 5.48 0 TRPA1 90255 Alternative C gccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctg CTAGTTCGCAAT CGACGCGGTCTCTCTCTgccttcagtttgttcttttgcttaggatagtcttggctattcaggcttttCttttttttttttttttttgagatggagtctcactctgtcacccaggctgAGAGGGAGACGGACGTCTCAATAActagttcgcaatAGATCGAGACCCGACGC chr8:73078075-Alternative-C;Patient-72 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative C aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact GTGTAGGTAACT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAgtgtaggtaactAGATCGAGACCCGACGC chr8:73365508-Alternative-C;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Variant G aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact ACATAGCCGAAT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAacatagccgaatAGATCGAGACCCGACGC chr8:73365508-Variant-G;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative A aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact GCATACTAATCG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAgcatactaatcgAGATCGAGACCCGACGC chr8:73365508-Alternative-A;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Reference T aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact ATTATCTGACGG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAattatctgacggAGATCGAGACCCGACGC chr8:73365508-Reference-T;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Variant G aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact AGACCGGAGCTT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAagaccggagcttAGATCGAGACCCGACGC chr8:73365508-Variant-G;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Variant G aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact GCATGCTGTAGT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAgcatgctgtagtAGATCGAGACCCGACGC chr8:73365508-Variant-G;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative A aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CGCTAATGTCGG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcgctaatgtcggAGATCGAGACCCGACGC chr8:73365508-Alternative-A;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative A aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CAGGCGTAGAAG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcaggcgtagaagAGATCGAGACCCGACGC chr8:73365508-Alternative-A;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Variant G aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact AACGGTCCGGAA CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAaacggtccggaaAGATCGAGACCCGACGC chr8:73365508-Variant-G;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative A aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CAGATAGGCCAT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcagataggccatAGATCGAGACCCGACGC chr8:73365508-Alternative-A;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Reference T aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CATTGACATACG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcattgacatacgAGATCGAGACCCGACGC chr8:73365508-Reference-T;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative C aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CTGCTCGGTGAA CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAActgctcggtgaaAGATCGAGACCCGACGC chr8:73365508-Alternative-C;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Variant G aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact ACTTCGGAGTCG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctGgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAacttcggagtcgAGATCGAGACCCGACGC chr8:73365508-Variant-G;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative A aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact GACTACTTCCGG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctAgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAgactacttccggAGATCGAGACCCGACGC chr8:73365508-Alternative-A;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative C aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact AACCGGCTCCAA CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAaaccggctccaaAGATCGAGACCCGACGC chr8:73365508-Alternative-C;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Reference T aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact AACGTGGTTAAG CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAaacgtggttaagAGATCGAGACCCGACGC chr8:73365508-Reference-T;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Reference T aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CGATCGGAGCTT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcgatcggagcttAGATCGAGACCCGACGC chr8:73365508-Reference-T;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Reference T aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact ACGCAGACGTCT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctTgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAacgcagacgtctAGATCGAGACCCGACGC chr8:73365508-Reference-T;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative C aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact GATCGTGTTGAT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAgatcgtgttgatAGATCGAGACCCGACGC chr8:73365508-Alternative-C;Patient-53 chr8:73365508-TG DeNovo Patient-53 intergenic NA 0.000513 0.09 4.12 0.2 KCNB2 84117 Alternative C aacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttact CAACGTGTCGGT CGACGCGGTCTCTCTCTaacgctttaggtattgtcaaatgttctttttttaatttaggttttttgctCgtttggtggtaaatgctttcacagtaagttgtttgctcattaatttactAGAGGGAGACGGACGTCTCAATAAcaacgtgtcggtAGATCGAGACCCGACGC chr8:73365508-Alternative-C;Patient-53 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Variant A gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaa CTGCGTTACAGG CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAActgcgttacaggAGATCGAGACCCGACGC chr8:74008456-Variant-A;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Reference G gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaa CTAGACTGGTAC CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAActagactggtacAGATCGAGACCCGACGC chr8:74008456-Reference-G;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Reference G gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaa CAGCGCACAGTT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcagcgcacagttAGATCGAGACCCGACGC chr8:74008456-Reference-G;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative T gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaa CATAGTGCGACT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcatagtgcgactAGATCGAGACCCGACGC chr8:74008456-Alternative-T;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative T gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaa CATCGAATTACG CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcatcgaattacgAGATCGAGACCCGACGC chr8:74008456-Alternative-T;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Reference G gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaa GTTGACTTAGGT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAgttgacttaggtAGATCGAGACCCGACGC chr8:74008456-Reference-G;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Variant A gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaa AAGCGCACAATA CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAaagcgcacaataAGATCGAGACCCGACGC chr8:74008456-Variant-A;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Reference G gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaa ACTCCTACCAAC CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAactcctaccaacAGATCGAGACCCGACGC chr8:74008456-Reference-G;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative T gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaa CACATTCGTCAT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcacattcgtcatAGATCGAGACCCGACGC chr8:74008456-Alternative-T;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative T gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaa CAGGAGCGATGT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcaggagcgatgtAGATCGAGACCCGACGC chr8:74008456-Alternative-T;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Variant A gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaa ACCTACATAGGT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAacctacataggtAGATCGAGACCCGACGC chr8:74008456-Variant-A;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Reference G gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaa CGGCGTGATCTA CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacGttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcggcgtgatctaAGATCGAGACCCGACGC chr8:74008456-Reference-G;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative C gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaa CGAGATATGAGT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcgagatatgagtAGATCGAGACCCGACGC chr8:74008456-Alternative-C;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Variant A gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaa GTATTAACGCGA CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAgtattaacgcgaAGATCGAGACCCGACGC chr8:74008456-Variant-A;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative T gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaa GTTACACGCTAT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacTttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAgttacacgctatAGATCGAGACCCGACGC chr8:74008456-Alternative-T;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Variant A gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaa ATCGGTGTGATA CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacAttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAatcggtgtgataAGATCGAGACCCGACGC chr8:74008456-Variant-A;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative C gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaa AGTACGACTCAT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAagtacgactcatAGATCGAGACCCGACGC chr8:74008456-Alternative-C;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative C gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaa GAGTACGTGAAC CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAgagtacgtgaacAGATCGAGACCCGACGC chr8:74008456-Alternative-C;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative C gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaa ACTCTTGACGCG CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAactcttgacgcgAGATCGAGACCCGACGC chr8:74008456-Alternative-C;Patient-16 chr8:74008456-GA DeNovo Patient-16 intergenic NA 0.000512821 -0.32 0.32 -5.62 TERF1 87358 Alternative C gtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaa CGAGTTAGCCGT CGACGCGGTCTCTCTCTgtgacaaaacaggactaaaactgaaattattctttccaaaacaccgcaacCttcttccccttacataaagctttttatgaggggttgggaaagattggaaAGAGGGAGACGGACGTCTCAATAAcgagttagccgtAGATCGAGACCCGACGC chr8:74008456-Alternative-C;Patient-16 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative T gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc ACGGCATGCGAT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAacggcatgcgatAGATCGAGACCCGACGC chr8:74800850-Alternative-T;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Reference G gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CAACAACACGCG CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcaacaacacgcgAGATCGAGACCCGACGC chr8:74800850-Reference-G;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative T gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GTCGGACTATAT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAgtcggactatatAGATCGAGACCCGACGC chr8:74800850-Alternative-T;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Reference G gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc ACTGTTCGACGC CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAactgttcgacgcAGATCGAGACCCGACGC chr8:74800850-Reference-G;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative T gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GATCAATTCGGT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAgatcaattcggtAGATCGAGACCCGACGC chr8:74800850-Alternative-T;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative C gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGCTCATATAAC CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcgctcatataacAGATCGAGACCCGACGC chr8:74800850-Alternative-C;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative C gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc AGGACGTGCAGT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAaggacgtgcagtAGATCGAGACCCGACGC chr8:74800850-Alternative-C;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative T gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc ACTACCAAGGCG CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAactaccaaggcgAGATCGAGACCCGACGC chr8:74800850-Alternative-T;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative T gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CAGCTGCGAACT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactTgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcagctgcgaactAGATCGAGACCCGACGC chr8:74800850-Alternative-T;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Reference G gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGATCAAGATGT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcgatcaagatgtAGATCGAGACCCGACGC chr8:74800850-Reference-G;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Reference G gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GCGATCTGTCGT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAgcgatctgtcgtAGATCGAGACCCGACGC chr8:74800850-Reference-G;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative C gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc AATCGACAGACA CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAaatcgacagacaAGATCGAGACCCGACGC chr8:74800850-Alternative-C;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Variant A gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GGACACACGTCA CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAggacacacgtcaAGATCGAGACCCGACGC chr8:74800850-Variant-A;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative C gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc ATTAACGGTAGG CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAattaacggtaggAGATCGAGACCCGACGC chr8:74800850-Alternative-C;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Variant A gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGCATCGATAGT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcgcatcgatagtAGATCGAGACCCGACGC chr8:74800850-Variant-A;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Variant A gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGGCTACCTTCT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcggctaccttctAGATCGAGACCCGACGC chr8:74800850-Variant-A;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Reference G gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGAAGGTGAATC CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactGgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcgaaggtgaatcAGATCGAGACCCGACGC chr8:74800850-Reference-G;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Alternative C gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GACGAGATAGAA CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactCgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAgacgagatagaaAGATCGAGACCCGACGC chr8:74800850-Alternative-C;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Variant A gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc CGTACGTCCATT CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAcgtacgtccattAGATCGAGACCCGACGC chr8:74800850-Variant-A;Patient-63 chr8:74800850-GA Inherited Patient-63 intergenic NA 0.000513 0.5 9.4 0.15 ELOC 83671 Variant A gccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctc GCAGCACAATAA CGACGCGGTCTCTCTCTgccagcaccagggaaaggcagcctcccaatagatagaaacacctgaaactAgtgatcagtagcttcctgataagatctcaggagttgggcaagtaggctcAGAGGGAGACGGACGTCTCAATAAgcagcacaataaAGATCGAGACCCGACGC chr8:74800850-Variant-A;Patient-63 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative C ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt CGACTATACGAT CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAcgactatacgatAGATCGAGACCCGACGC chr8:74884012-Alternative-C;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative T ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ACCGAAGTGTAA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAaccgaagtgtaaAGATCGAGACCCGACGC chr8:74884012-Alternative-T;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative T ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ATTGAACCTGAG CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAattgaacctgagAGATCGAGACCCGACGC chr8:74884012-Alternative-T;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Variant G ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt GGCTCTTACGAG CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAggctcttacgagAGATCGAGACCCGACGC chr8:74884012-Variant-G;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative T ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt GTGAGCTGACCA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAgtgagctgaccaAGATCGAGACCCGACGC chr8:74884012-Alternative-T;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative C ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ATCCGCGCTGTT CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAatccgcgctgttAGATCGAGACCCGACGC chr8:74884012-Alternative-C;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative T ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt AACACGATGCGC CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAaacacgatgcgcAGATCGAGACCCGACGC chr8:74884012-Alternative-T;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative C ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt GATGGCTACTAA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAgatggctactaaAGATCGAGACCCGACGC chr8:74884012-Alternative-C;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Reference A ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ACTTCGTGTCTA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAacttcgtgtctaAGATCGAGACCCGACGC chr8:74884012-Reference-A;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Variant G ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt CTCGTAACAAGG CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAActcgtaacaaggAGATCGAGACCCGACGC chr8:74884012-Variant-G;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative C ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt AGCTGGACGCAA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAagctggacgcaaAGATCGAGACCCGACGC chr8:74884012-Alternative-C;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Variant G ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ATAACGCTATGG CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAataacgctatggAGATCGAGACCCGACGC chr8:74884012-Variant-G;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Variant G ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt CATTGGCGTCGA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAcattggcgtcgaAGATCGAGACCCGACGC chr8:74884012-Variant-G;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative C ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt GGTCTTCTTAGT CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctCccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAggtcttcttagtAGATCGAGACCCGACGC chr8:74884012-Alternative-C;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Alternative T ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ACAAGCGTTCGG CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctTccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAacaagcgttcggAGATCGAGACCCGACGC chr8:74884012-Alternative-T;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Variant G ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt ATTGAATCGGAC CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctGccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAattgaatcggacAGATCGAGACCCGACGC chr8:74884012-Variant-G;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Reference A ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt CTAAGTGTTCGA CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAActaagtgttcgaAGATCGAGACCCGACGC chr8:74884012-Reference-A;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Reference A ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt AGACTAACGCGC CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAagactaacgcgcAGATCGAGACCCGACGC chr8:74884012-Reference-A;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Reference A ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt GTGTCTCTCGAC CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAAgtgtctctcgacAGATCGAGACCCGACGC chr8:74884012-Reference-A;Patient-61 chr8:74884012-AG Inherited Patient-61 intronic ELOC NA 0.00016 2.03 19.54 3.38 ELOC 509 Reference A ctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagt CTACGAACGCCT CGACGCGGTCTCTCTCTctaatctgagcggacacgaggaacaagcagaaaggaaaagcgacagggctAccatgctcctaactccaccctcccgcgctcagcccggagaaggcccagtAGAGGGAGACGGACGTCTCAATAActacgaacgcctAGATCGAGACCCGACGC chr8:74884012-Reference-A;Patient-61 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative G gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CTCGTACGTGCT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAActcgtacgtgctAGATCGAGACCCGACGC chr8:74897066-Alternative-G;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative G gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag ACTCTTGACGTT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAactcttgacgttAGATCGAGACCCGACGC chr8:74897066-Alternative-G;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Reference T gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CGTAGTGCTAAG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcgtagtgctaagAGATCGAGACCCGACGC chr8:74897066-Reference-T;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative G gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GCGTGCGAACAT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgcgtgcgaacatAGATCGAGACCCGACGC chr8:74897066-Alternative-G;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative G gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GTGACATGTCCT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgtgacatgtcctAGATCGAGACCCGACGC chr8:74897066-Alternative-G;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative G gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GACGGAGGCTAA CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagGaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgacggaggctaaAGATCGAGACCCGACGC chr8:74897066-Alternative-G;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Reference T gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag AGTCCGTCTAGG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAagtccgtctaggAGATCGAGACCCGACGC chr8:74897066-Reference-T;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Reference T gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CGGTGATCGAAC CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcggtgatcgaacAGATCGAGACCCGACGC chr8:74897066-Reference-T;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Reference T gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CTACGACTACGG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAActacgactacggAGATCGAGACCCGACGC chr8:74897066-Reference-T;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Reference T gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GCGGACTTATAA CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagTaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgcggacttataaAGATCGAGACCCGACGC chr8:74897066-Reference-T;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative A gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag AATGTTGGCCGG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAaatgttggccggAGATCGAGACCCGACGC chr8:74897066-Alternative-A;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Variant C gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GTATAGGTCTGT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgtataggtctgtAGATCGAGACCCGACGC chr8:74897066-Variant-C;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative A gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CAGCTGTGAGCT CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcagctgtgagctAGATCGAGACCCGACGC chr8:74897066-Alternative-A;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative A gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag AGCGCGATGTTC CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAagcgcgatgttcAGATCGAGACCCGACGC chr8:74897066-Alternative-A;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative A gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CATCTATACCAC CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcatctataccacAGATCGAGACCCGACGC chr8:74897066-Alternative-A;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Variant C gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag GCGAGATAACAG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAgcgagataacagAGATCGAGACCCGACGC chr8:74897066-Variant-C;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Variant C gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CGGCGATTGACA CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcggcgattgacaAGATCGAGACCCGACGC chr8:74897066-Variant-C;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Variant C gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CGCGATCCTCAA CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcgcgatcctcaaAGATCGAGACCCGACGC chr8:74897066-Variant-C;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Alternative A gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CGCTATTGGCGA CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagAaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAAcgctattggcgaAGATCGAGACCCGACGC chr8:74897066-Alternative-A;Patient-69 chr8:74897066-TC DeNovo Patient-69 intergenic 3.2e-05 0.00204 1.06 13.64 1.54 ELOC 12543 Variant C gaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaag CTACGCGTTAGG CGACGCGGTCTCTCTCTgaagagttgattttttttttgtaggcatgagaactagcacctctgaaaagCaaaatgatctgtgcaacatccaaggatgcaatgaaaaagaaatttcaagAGAGGGAGACGGACGTCTCAATAActacgcgttaggAGATCGAGACCCGACGC chr8:74897066-Variant-C;Patient-69 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative C tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaacc GAGTATCGACGG CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAgagtatcgacggAGATCGAGACCCGACGC chr8:76360041-Alternative-C;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative C tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaacc AGCGTCGAACGA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAagcgtcgaacgaAGATCGAGACCCGACGC chr8:76360041-Alternative-C;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative C tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaacc GACGACACGTAT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAgacgacacgtatAGATCGAGACCCGACGC chr8:76360041-Alternative-C;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative C tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaacc ACCAACACATTC CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAaccaacacattcAGATCGAGACCCGACGC chr8:76360041-Alternative-C;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative C tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaacc AGAATTAAGGCG CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaCaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAagaattaaggcgAGATCGAGACCCGACGC chr8:76360041-Alternative-C;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Variant T tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaacc AGCATGTCTCAA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAagcatgtctcaaAGATCGAGACCCGACGC chr8:76360041-Variant-T;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Variant T tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CTACGTTATCGA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAActacgttatcgaAGATCGAGACCCGACGC chr8:76360041-Variant-T;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative A tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaacc AATGCTAGTGCT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAaatgctagtgctAGATCGAGACCCGACGC chr8:76360041-Alternative-A;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative A tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CAACGACAACGG CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAcaacgacaacggAGATCGAGACCCGACGC chr8:76360041-Alternative-A;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Reference G tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaacc GGTTGGTCATAT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAggttggtcatatAGATCGAGACCCGACGC chr8:76360041-Reference-G;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative A tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CGCAGCGTTCAA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAcgcagcgttcaaAGATCGAGACCCGACGC chr8:76360041-Alternative-A;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Reference G tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaacc ATCCGTCGACGA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAatccgtcgacgaAGATCGAGACCCGACGC chr8:76360041-Reference-G;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Reference G tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CTAGTGGCAATT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAActagtggcaattAGATCGAGACCCGACGC chr8:76360041-Reference-G;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative A tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaacc ATAACACGAACG CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAataacacgaacgAGATCGAGACCCGACGC chr8:76360041-Alternative-A;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Alternative A tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaacc GGCTATCGCGAA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaAaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAggctatcgcgaaAGATCGAGACCCGACGC chr8:76360041-Alternative-A;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Reference G tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CGCATAATCTGT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAcgcataatctgtAGATCGAGACCCGACGC chr8:76360041-Reference-G;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Reference G tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaacc AGCTACGCATCG CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaGaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAagctacgcatcgAGATCGAGACCCGACGC chr8:76360041-Reference-G;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Variant T tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CGTTCCACGTCA CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAcgttccacgtcaAGATCGAGACCCGACGC chr8:76360041-Variant-T;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Variant T tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaacc CGTAGGTCGGTT CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAcgtaggtcggttAGATCGAGACCCGACGC chr8:76360041-Variant-T;Patient-22 chr8:76360041-GT Inherited Patient-22 intergenic 0.000351 0.000513 -0.13 1.17 0 HNF4G 92161 Variant T tggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaacc ATCGACACGTGC CGACGCGGTCTCTCTCTtggcaatcattaaaaagtcaggaaacaacaggtgctggagaggatgtggaTaaataggaacacttttacactgttggtgggactgtaaactagttcaaccAGAGGGAGACGGACGTCTCAATAAatcgacacgtgcAGATCGAGACCCGACGC chr8:76360041-Variant-T;Patient-22 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Variant T tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactc CGTCTGGTTGTC CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcgtctggttgtcAGATCGAGACCCGACGC chr8:76446087-Variant-T;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Variant T tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactc CATGTTGCGTCC CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcatgttgcgtccAGATCGAGACCCGACGC chr8:76446087-Variant-T;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative A tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactc CGCGCATTCTGT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcgcgcattctgtAGATCGAGACCCGACGC chr8:76446087-Alternative-A;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Variant T tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactc ATAGAGCGAACG CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAatagagcgaacgAGATCGAGACCCGACGC chr8:76446087-Variant-T;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Variant T tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactc GGTATCGCCGAA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAggtatcgccgaaAGATCGAGACCCGACGC chr8:76446087-Variant-T;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative A tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactc ATCGACGGTCGT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAatcgacggtcgtAGATCGAGACCCGACGC chr8:76446087-Alternative-A;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative A tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactc GACGGCGTGAAT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAgacggcgtgaatAGATCGAGACCCGACGC chr8:76446087-Alternative-A;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative G tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactc CGTGTAGTAGCG CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcgtgtagtagcgAGATCGAGACCCGACGC chr8:76446087-Alternative-G;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative G tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactc GCGTGGTTCGAT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAgcgtggttcgatAGATCGAGACCCGACGC chr8:76446087-Alternative-G;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative A tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactc GAGTGTCGTTAT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAgagtgtcgttatAGATCGAGACCCGACGC chr8:76446087-Alternative-A;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Variant T tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactc ATCGCGGATGCA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaTtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAatcgcggatgcaAGATCGAGACCCGACGC chr8:76446087-Variant-T;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative G tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactc CTCGTGTATTCA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAActcgtgtattcaAGATCGAGACCCGACGC chr8:76446087-Alternative-G;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative G tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactc CAAGAGTAACGT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcaagagtaacgtAGATCGAGACCCGACGC chr8:76446087-Alternative-G;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative A tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactc CGGCTAGGTAGT CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaAtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAcggctaggtagtAGATCGAGACCCGACGC chr8:76446087-Alternative-A;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Alternative G tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactc AGACCTTAACGC CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaGtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAagaccttaacgcAGATCGAGACCCGACGC chr8:76446087-Alternative-G;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Reference C tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactc ACCTTGCGCCTA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAaccttgcgcctaAGATCGAGACCCGACGC chr8:76446087-Reference-C;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Reference C tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactc AGCGGAACAACG CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAagcggaacaacgAGATCGAGACCCGACGC chr8:76446087-Reference-C;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Reference C tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactc GATGGTTGATGA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAAgatggttgatgaAGATCGAGACCCGACGC chr8:76446087-Reference-C;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Reference C tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactc CTGCTAGGTACG CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAActgctaggtacgAGATCGAGACCCGACGC chr8:76446087-Reference-C;Patient-87 chr8:76446087-CT Inherited Patient-87 intergenic NA 0.000513 -0.03 2.26 -5.06 HNF4G 6115 Reference C tccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactc CTGCTACATTCA CGACGCGGTCTCTCTCTtccatatgtatctaagaaagctttaaagaggaattttgagcagttcttgaCtacttgactgaacatataatctattattgtattttatatggagaaactcAGAGGGAGACGGACGTCTCAATAActgctacattcaAGATCGAGACCCGACGC chr8:76446087-Reference-C;Patient-87 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Variant G cttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt AATGGCCGTCCT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAaatggccgtcctAGATCGAGACCCGACGC chr8:79664217-Variant-G;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative T cttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GATGTGCAGACG CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgatgtgcagacgAGATCGAGACCCGACGC chr8:79664217-Alternative-T;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Variant G cttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CTACGGCTCTGT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAActacggctctgtAGATCGAGACCCGACGC chr8:79664217-Variant-G;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Reference A cttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt ACACAGCGACGA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAacacagcgacgaAGATCGAGACCCGACGC chr8:79664217-Reference-A;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Reference A cttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GTGAGGTTATGA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgtgaggttatgaAGATCGAGACCCGACGC chr8:79664217-Reference-A;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Reference A cttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CGGACAAGTAGG CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcggacaagtaggAGATCGAGACCCGACGC chr8:79664217-Reference-A;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Variant G cttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GTGCCGTCAAGA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgtgccgtcaagaAGATCGAGACCCGACGC chr8:79664217-Variant-G;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Variant G cttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt AAGTTGGCGGCA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAaagttggcggcaAGATCGAGACCCGACGC chr8:79664217-Variant-G;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Variant G cttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt AAGGTGGCCGAA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaGttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAaaggtggccgaaAGATCGAGACCCGACGC chr8:79664217-Variant-G;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative T cttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CGCGTCGTTAGA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcgcgtcgttagaAGATCGAGACCCGACGC chr8:79664217-Alternative-T;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Reference A cttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GATTAAGCGGAT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgattaagcggatAGATCGAGACCCGACGC chr8:79664217-Reference-A;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Reference A cttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GACGTAGCTTCG CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaAttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgacgtagcttcgAGATCGAGACCCGACGC chr8:79664217-Reference-A;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative C cttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CATGAGTTAGCT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcatgagttagctAGATCGAGACCCGACGC chr8:79664217-Alternative-C;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative C cttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CGAACCTTACCT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcgaaccttacctAGATCGAGACCCGACGC chr8:79664217-Alternative-C;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative T cttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CGGTAACGCTAA CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcggtaacgctaaAGATCGAGACCCGACGC chr8:79664217-Alternative-T;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative C cttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CGCGAGTTACGT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcgcgagttacgtAGATCGAGACCCGACGC chr8:79664217-Alternative-C;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative T cttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GATAACATTGCG CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgataacattgcgAGATCGAGACCCGACGC chr8:79664217-Alternative-T;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative T cttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CTAAGTGTCGGC CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaTttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAActaagtgtcggcAGATCGAGACCCGACGC chr8:79664217-Alternative-T;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative C cttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt CATTGCCTTAGT CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAcattgccttagtAGATCGAGACCCGACGC chr8:79664217-Alternative-C;Patient-22 chr8:79664217-AG Inherited Patient-22 intronic IL7 0.000861 0.000148471 0.76 11.57 0 IL7 53540 Alternative C cttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatcttt GCAACCGTTATC CGACGCGGTCTCTCTCTcttttgtgcctttaatacccacaattttattctctacttccatgaactcaCttatgttttagctcccacatataaatgacagcatgtggtgtttatctttAGAGGGAGACGGACGTCTCAATAAgcaaccgttatcAGATCGAGACCCGACGC chr8:79664217-Alternative-C;Patient-22 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Variant A tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg CGTTGTGCTCGT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAcgttgtgctcgtAGATCGAGACCCGACGC chr8:80580391-Variant-A;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative C tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg AGGCGTCGAGTT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAaggcgtcgagttAGATCGAGACCCGACGC chr8:80580391-Alternative-C;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Reference G tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg CATCAGTTCGTT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAcatcagttcgttAGATCGAGACCCGACGC chr8:80580391-Reference-G;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Reference G tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg AGATTCGCTTCT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAagattcgcttctAGATCGAGACCCGACGC chr8:80580391-Reference-G;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Reference G tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg ATCTTAGGCGAT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAatcttaggcgatAGATCGAGACCCGACGC chr8:80580391-Reference-G;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Reference G tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GGTCACCTTCTA CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAggtcaccttctaAGATCGAGACCCGACGC chr8:80580391-Reference-G;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Variant A tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg ACCTGGATTGCG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAacctggattgcgAGATCGAGACCCGACGC chr8:80580391-Variant-A;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Reference G tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GGAGATGAACGG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcGggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAggagatgaacggAGATCGAGACCCGACGC chr8:80580391-Reference-G;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative T tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg CTGAAGATTAGG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAActgaagattaggAGATCGAGACCCGACGC chr8:80580391-Alternative-T;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Variant A tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GCGAACGTCGAT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgcgaacgtcgatAGATCGAGACCCGACGC chr8:80580391-Variant-A;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Variant A tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GCGATACTATGG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgcgatactatggAGATCGAGACCCGACGC chr8:80580391-Variant-A;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative T tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GTATCAACGTGT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgtatcaacgtgtAGATCGAGACCCGACGC chr8:80580391-Alternative-T;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative T tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GCCAATATAGCA CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgccaatatagcaAGATCGAGACCCGACGC chr8:80580391-Alternative-T;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Variant A tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg AAGACCTTGGCG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcAggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAaagaccttggcgAGATCGAGACCCGACGC chr8:80580391-Variant-A;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative T tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GGTCTTCAACTT CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAggtcttcaacttAGATCGAGACCCGACGC chr8:80580391-Alternative-T;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative C tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GCAAGTGCTAGG CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgcaagtgctaggAGATCGAGACCCGACGC chr8:80580391-Alternative-C;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative T tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg AGAATAAGTCGC CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcTggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAagaataagtcgcAGATCGAGACCCGACGC chr8:80580391-Alternative-T;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative C tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg CGTTCTCGACAC CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAcgttctcgacacAGATCGAGACCCGACGC chr8:80580391-Alternative-C;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative C tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg GATTAGGTGTTC CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAAgattaggtgttcAGATCGAGACCCGACGC chr8:80580391-Alternative-C;Patient-89 chr8:80580391-GA Inherited Patient-89 intergenic 9.6e-05 0.000513 -0.58 0.05 -1.66 HEY1 99706 Alternative C tggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctg CTGTTCGCTGAC CGACGCGGTCTCTCTCTtggaggcagggcaagaagagaaatgcattcactcttattcaaaaaagttcCggggtgggaggatgcagagaaatccagaaaaaagcaagataaacagctgAGAGGGAGACGGACGTCTCAATAActgttcgctgacAGATCGAGACCCGACGC chr8:80580391-Alternative-C;Patient-89 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative A atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GGTATTCGCGGT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAggtattcgcggtAGATCGAGACCCGACGC chr8:82011930-Alternative-A;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative A atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac CTGTCTTGGTTA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAActgtcttggttaAGATCGAGACCCGACGC chr8:82011930-Alternative-A;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative A atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac ATTACCGCGAGA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAattaccgcgagaAGATCGAGACCCGACGC chr8:82011930-Alternative-A;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Variant C atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GGTGGCTCGTTA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAggtggctcgttaAGATCGAGACCCGACGC chr8:82011930-Variant-C;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative A atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac AGATAGTAACGG CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAagatagtaacggAGATCGAGACCCGACGC chr8:82011930-Alternative-A;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Reference T atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GATCACGAATCG CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgatcacgaatcgAGATCGAGACCCGACGC chr8:82011930-Reference-T;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Variant C atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac ATACGCGGATTA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAatacgcggattaAGATCGAGACCCGACGC chr8:82011930-Variant-C;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Variant C atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GGATAGACACAT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAggatagacacatAGATCGAGACCCGACGC chr8:82011930-Variant-C;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Variant C atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac ACCGAATGCAAT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAaccgaatgcaatAGATCGAGACCCGACGC chr8:82011930-Variant-C;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Variant C atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac AATGCGCGATGC CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaCtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAaatgcgcgatgcAGATCGAGACCCGACGC chr8:82011930-Variant-C;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Reference T atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GATCGGCTAAGG CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgatcggctaaggAGATCGAGACCCGACGC chr8:82011930-Reference-T;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Reference T atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GACTACAACGAA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgactacaacgaaAGATCGAGACCCGACGC chr8:82011930-Reference-T;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative A atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GACCTCATAACA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaAtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgacctcataacaAGATCGAGACCCGACGC chr8:82011930-Alternative-A;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Reference T atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac AAGATCGCGCGT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAaagatcgcgcgtAGATCGAGACCCGACGC chr8:82011930-Reference-T;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative G atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GCGGTTACGTCA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgcggttacgtcaAGATCGAGACCCGACGC chr8:82011930-Alternative-G;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative G atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac ACCGCAGTAAGT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAaccgcagtaagtAGATCGAGACCCGACGC chr8:82011930-Alternative-G;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative G atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac ATCTTGGACGGC CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAatcttggacggcAGATCGAGACCCGACGC chr8:82011930-Alternative-G;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative G atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac CGTGTTGCGAGT CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAcgtgttgcgagtAGATCGAGACCCGACGC chr8:82011930-Alternative-G;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Reference T atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac GCAACATGCTAA CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaTtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAgcaacatgctaaAGATCGAGACCCGACGC chr8:82011930-Reference-T;Patient-32 chr8:82011930-TC DeNovo Patient-32 intronic PAG1 6.4e-05 0.000159744 0.02 2.89 -1.38 PAG1 12372 Alternative G atatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcac CATCATACCATC CGACGCGGTCTCTCTCTatatataaggacagaaagtgagacagaaaagaaagcaagcaatagaaagaGtggtggcttcctggggctggcagcaggaatgagaactgcacacaggcacAGAGGGAGACGGACGTCTCAATAAcatcataccatcAGATCGAGACCCGACGC chr8:82011930-Alternative-G;Patient-32 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative T aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GTTCCACTCGGT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAgttccactcggtAGATCGAGACCCGACGC chr8:82339564-Alternative-T;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative T aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GACCTTGCGTCA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAgaccttgcgtcaAGATCGAGACCCGACGC chr8:82339564-Alternative-T;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative T aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc ACCTATGCCGCA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAacctatgccgcaAGATCGAGACCCGACGC chr8:82339564-Alternative-T;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative T aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GGCCGGTTCATT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAggccggttcattAGATCGAGACCCGACGC chr8:82339564-Alternative-T;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Variant G aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CGGCGACATGAA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAcggcgacatgaaAGATCGAGACCCGACGC chr8:82339564-Variant-G;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Variant G aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CGTTCACGCGAT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAcgttcacgcgatAGATCGAGACCCGACGC chr8:82339564-Variant-G;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative T aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GATTCCGCGTCA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactTgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAgattccgcgtcaAGATCGAGACCCGACGC chr8:82339564-Alternative-T;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Reference A aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AATCGGACTCAT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAaatcggactcatAGATCGAGACCCGACGC chr8:82339564-Reference-A;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Reference A aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GACTATCATACG CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAgactatcatacgAGATCGAGACCCGACGC chr8:82339564-Reference-A;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative C aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc GTCGTTGGCAGT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAgtcgttggcagtAGATCGAGACCCGACGC chr8:82339564-Alternative-C;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative C aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc ACGTAGATGCCG CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAacgtagatgccgAGATCGAGACCCGACGC chr8:82339564-Alternative-C;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Variant G aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CATGAATGCGCG CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAcatgaatgcgcgAGATCGAGACCCGACGC chr8:82339564-Variant-G;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative C aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AGCCGCCTAAGA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAagccgcctaagaAGATCGAGACCCGACGC chr8:82339564-Alternative-C;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Reference A aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AGCGGACAGCAA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAagcggacagcaaAGATCGAGACCCGACGC chr8:82339564-Reference-A;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Variant G aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AGTCTAGCAAGA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAagtctagcaagaAGATCGAGACCCGACGC chr8:82339564-Variant-G;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative C aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CGACGTAAGTAA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAcgacgtaagtaaAGATCGAGACCCGACGC chr8:82339564-Alternative-C;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Variant G aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AGCGTGGCTACA CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactGgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAagcgtggctacaAGATCGAGACCCGACGC chr8:82339564-Variant-G;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Reference A aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CTAACCAACAGG CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAActaaccaacaggAGATCGAGACCCGACGC chr8:82339564-Reference-A;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Reference A aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc AATGCGAAGTGT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactAgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAaatgcgaagtgtAGATCGAGACCCGACGC chr8:82339564-Reference-A;Patient-55 chr8:82339564-AG DeNovo Patient-55 intergenic NA 0.000513 -0.02 2.3 0 FABP9 34193 Alternative C aagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgc CGTCGAATTCTT CGACGCGGTCTCTCTCTaagacggatgatttctgcatttccaactgaggtaccgggttcatctcactCgggagtgccagacagtgggcgcaggtcagtgggtgcgcgcaccgtatgcAGAGGGAGACGGACGTCTCAATAAcgtcgaattcttAGATCGAGACCCGACGC chr8:82339564-Alternative-C;Patient-55 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative G cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt AACGTTGCGCGA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAaacgttgcgcgaAGATCGAGACCCGACGC chr8:8633886-Alternative-G;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative G cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GATGGAGTGTCG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgatggagtgtcgAGATCGAGACCCGACGC chr8:8633886-Alternative-G;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Reference T cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CACATTACCTAC CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcacattacctacAGATCGAGACCCGACGC chr8:8633886-Reference-T;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Reference T cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CATTGGCGATCG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcattggcgatcgAGATCGAGACCCGACGC chr8:8633886-Reference-T;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative G cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt AACAACTAGACG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAaacaactagacgAGATCGAGACCCGACGC chr8:8633886-Alternative-G;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative G cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CGACTTGATGAT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcgacttgatgatAGATCGAGACCCGACGC chr8:8633886-Alternative-G;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative G cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GTGTATTCGGCG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaGacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgtgtattcggcgAGATCGAGACCCGACGC chr8:8633886-Alternative-G;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative A cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt ATATGTGACGAG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAatatgtgacgagAGATCGAGACCCGACGC chr8:8633886-Alternative-A;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Reference T cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CGTGCTATAACA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcgtgctataacaAGATCGAGACCCGACGC chr8:8633886-Reference-T;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Reference T cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GCGCACGTAATT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgcgcacgtaattAGATCGAGACCCGACGC chr8:8633886-Reference-T;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Reference T cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GTCGTAGGACGA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaTacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgtcgtaggacgaAGATCGAGACCCGACGC chr8:8633886-Reference-T;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Variant C cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GACAATGTGCGG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgacaatgtgcggAGATCGAGACCCGACGC chr8:8633886-Variant-C;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Variant C cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt GTAACGAAGGTT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAgtaacgaaggttAGATCGAGACCCGACGC chr8:8633886-Variant-C;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Variant C cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CGTATCAGCTAA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcgtatcagctaaAGATCGAGACCCGACGC chr8:8633886-Variant-C;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative A cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt AGTCGGCTACCA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAagtcggctaccaAGATCGAGACCCGACGC chr8:8633886-Alternative-A;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Variant C cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt AGACGCTCCGAT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAagacgctccgatAGATCGAGACCCGACGC chr8:8633886-Variant-C;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Variant C cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt AAGATATGGTCG CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaCacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAaagatatggtcgAGATCGAGACCCGACGC chr8:8633886-Variant-C;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative A cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt ATTGCCATGACT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAattgccatgactAGATCGAGACCCGACGC chr8:8633886-Alternative-A;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative A cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt ACGCTGTAGTTA CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAacgctgtagttaAGATCGAGACCCGACGC chr8:8633886-Alternative-A;Patient-12 chr8:8633886-TC DeNovo Patient-12 intergenic NA 0.000513 NA NA NA CLDN23 74219 Alternative A cattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgt CGAGCAGCTGAT CGACGCGGTCTCTCTCTcattttttctacatctgtgtatcaactgcacttattaaaactttttctaaAacacttttaagtatttctttctaaatgcattcatttttaaaacaaatgtAGAGGGAGACGGACGTCTCAATAAcgagcagctgatAGATCGAGACCCGACGC chr8:8633886-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Reference C cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GCGCACTTACGA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAgcgcacttacgaAGATCGAGACCCGACGC chr8:8637994-Reference-C;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Reference C cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ACGACCGACGTT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAacgaccgacgttAGATCGAGACCCGACGC chr8:8637994-Reference-C;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Reference C cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat CGTAGATACGTT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAcgtagatacgttAGATCGAGACCCGACGC chr8:8637994-Reference-C;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Reference C cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat CGTGTATGTGCG CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAcgtgtatgtgcgAGATCGAGACCCGACGC chr8:8637994-Reference-C;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Reference C cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GTAAGGACGTGA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttCtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAgtaaggacgtgaAGATCGAGACCCGACGC chr8:8637994-Reference-C;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative T cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ATCGTTGAGGTT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAatcgttgaggttAGATCGAGACCCGACGC chr8:8637994-Alternative-T;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative A cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat AGTCGACGTCCA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAagtcgacgtccaAGATCGAGACCCGACGC chr8:8637994-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative T cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ATAAGCGAACCG CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAataagcgaaccgAGATCGAGACCCGACGC chr8:8637994-Alternative-T;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative A cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ACGTCAGTAGAA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAacgtcagtagaaAGATCGAGACCCGACGC chr8:8637994-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative A cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GCGCTCCTAAGA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAgcgctcctaagaAGATCGAGACCCGACGC chr8:8637994-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative A cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ATTGACGGTAAG CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAattgacggtaagAGATCGAGACCCGACGC chr8:8637994-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative A cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ATCTCAACACGA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttAtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAatctcaacacgaAGATCGAGACCCGACGC chr8:8637994-Alternative-A;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Variant G cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GGCACGGCTATT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAggcacggctattAGATCGAGACCCGACGC chr8:8637994-Variant-G;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Variant G cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GGACGTGACGAT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAggacgtgacgatAGATCGAGACCCGACGC chr8:8637994-Variant-G;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative T cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GAGGTTGTTAGA CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAgaggttgttagaAGATCGAGACCCGACGC chr8:8637994-Alternative-T;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative T cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GGTGGTATTCGC CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAggtggtattcgcAGATCGAGACCCGACGC chr8:8637994-Alternative-T;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Alternative T cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat GCGAGGTAGTAC CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttTtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAgcgaggtagtacAGATCGAGACCCGACGC chr8:8637994-Alternative-T;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Variant G cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat ACGCTACGACAT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAacgctacgacatAGATCGAGACCCGACGC chr8:8637994-Variant-G;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Variant G cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat AACCATGGACGG CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAaaccatggacggAGATCGAGACCCGACGC chr8:8637994-Variant-G;Patient-12 chr8:8637994-CG DeNovo Patient-12 intergenic NA 0.000512821 NA NA NA CLDN23 78327 Variant G cctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacat CGCGAATGGCAT CGACGCGGTCTCTCTCTcctgcctcactcaacttttggtttacaaaagttcagtgaacctggaagttGtttcaaaaaactcacaaaaaggggaaattgccttaggagggaacaacatAGAGGGAGACGGACGTCTCAATAAcgcgaatggcatAGATCGAGACCCGACGC chr8:8637994-Variant-G;Patient-12 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative T cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa AGCTGCGTGACA CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAagctgcgtgacaAGATCGAGACCCGACGC chr8:87348715-Alternative-T;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative A cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa ACAACAGATGGT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAacaacagatggtAGATCGAGACCCGACGC chr8:87348715-Alternative-A;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Variant G cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GAGTTGAGCGCT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgagttgagcgctAGATCGAGACCCGACGC chr8:87348715-Variant-G;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Reference C cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa CACTATGCGTCG CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAcactatgcgtcgAGATCGAGACCCGACGC chr8:87348715-Reference-C;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative A cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa ATCCGAGTAACG CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAatccgagtaacgAGATCGAGACCCGACGC chr8:87348715-Alternative-A;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Variant G cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa CGTCACTATGGT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAcgtcactatggtAGATCGAGACCCGACGC chr8:87348715-Variant-G;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative T cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GGCGAAGCTGTT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAggcgaagctgttAGATCGAGACCCGACGC chr8:87348715-Alternative-T;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Variant G cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GGATCTTCGACG CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAggatcttcgacgAGATCGAGACCCGACGC chr8:87348715-Variant-G;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative T cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GCGTAGTCAGGT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgcgtagtcaggtAGATCGAGACCCGACGC chr8:87348715-Alternative-T;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Variant G cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GGAGTAGCGAGA CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAggagtagcgagaAGATCGAGACCCGACGC chr8:87348715-Variant-G;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Variant G cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa CGGTAATTCGAT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcGaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAcggtaattcgatAGATCGAGACCCGACGC chr8:87348715-Variant-G;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative T cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GATATCGAGTCA CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgatatcgagtcaAGATCGAGACCCGACGC chr8:87348715-Alternative-T;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative T cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GGTACGCTAGTC CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcTaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAggtacgctagtcAGATCGAGACCCGACGC chr8:87348715-Alternative-T;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Reference C cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GATCGTTGAACT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgatcgttgaactAGATCGAGACCCGACGC chr8:87348715-Reference-C;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative A cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GTCGAACGAGGT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgtcgaacgaggtAGATCGAGACCCGACGC chr8:87348715-Alternative-A;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Reference C cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa CGATCACGTAAG CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAcgatcacgtaagAGATCGAGACCCGACGC chr8:87348715-Reference-C;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Reference C cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GTGTAGTACCGG CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgtgtagtaccggAGATCGAGACCCGACGC chr8:87348715-Reference-C;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Reference C cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa CTTGGAATGACT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcCaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAActtggaatgactAGATCGAGACCCGACGC chr8:87348715-Reference-C;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative A cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa AACTTACGTCCT CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAaacttacgtcctAGATCGAGACCCGACGC chr8:87348715-Alternative-A;Patient-53 chr8:87348715-CG DeNovo Patient-53 intergenic 0.000287 0.00308 0.04 3.25 0.44 WWP1 6278 Alternative A cctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaa GAGAGCTCAATC CGACGCGGTCTCTCTCTcctgtactcccagcactttgggaggctgaggcagaaggattgcctgaggcAaggaatttgagacaaacctgggcaacacggcaagaccccatctcaacaaAGAGGGAGACGGACGTCTCAATAAgagagctcaatcAGATCGAGACCCGACGC chr8:87348715-Alternative-A;Patient-53 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative G acacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CATTCGTATGCT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcattcgtatgctAGATCGAGACCCGACGC chr8:9035826-Alternative-G;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Reference T acacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GTCGAGGAGTAC CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgtcgaggagtacAGATCGAGACCCGACGC chr8:9035826-Reference-T;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Reference T acacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CTATTCGTGACT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAActattcgtgactAGATCGAGACCCGACGC chr8:9035826-Reference-T;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Reference T acacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg ACAACGGATTCT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAacaacggattctAGATCGAGACCCGACGC chr8:9035826-Reference-T;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Reference T acacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GCGCGTAGCATA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgcgcgtagcataAGATCGAGACCCGACGC chr8:9035826-Reference-T;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Variant C acacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CGATACACCTAA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcgatacacctaaAGATCGAGACCCGACGC chr8:9035826-Variant-C;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Variant C acacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CAGGCTAGTGCA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcaggctagtgcaAGATCGAGACCCGACGC chr8:9035826-Variant-C;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative G acacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg ACTCGTGGAAGG CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAactcgtggaaggAGATCGAGACCCGACGC chr8:9035826-Alternative-G;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative G acacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GCGGTATAACTT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgcggtataacttAGATCGAGACCCGACGC chr8:9035826-Alternative-G;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative G acacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg AGAATTGGTCGA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAagaattggtcgaAGATCGAGACCCGACGC chr8:9035826-Alternative-G;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative G acacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CTATGAGTTCGC CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaGgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAActatgagttcgcAGATCGAGACCCGACGC chr8:9035826-Alternative-G;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Variant C acacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg ACACCGCATTCG CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAacaccgcattcgAGATCGAGACCCGACGC chr8:9035826-Variant-C;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative A acacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CGAGAAGTTCAA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcgagaagttcaaAGATCGAGACCCGACGC chr8:9035826-Alternative-A;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative A acacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GTAACCGATGCA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgtaaccgatgcaAGATCGAGACCCGACGC chr8:9035826-Alternative-A;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative A acacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CGCGTTAATTGT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcgcgttaattgtAGATCGAGACCCGACGC chr8:9035826-Alternative-A;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative A acacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GATGATCCGTCG CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgatgatccgtcgAGATCGAGACCCGACGC chr8:9035826-Alternative-A;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Variant C acacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg ATCTGCGTAACA CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAatctgcgtaacaAGATCGAGACCCGACGC chr8:9035826-Variant-C;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Alternative A acacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg GCAGGTTCATGC CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaAgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAgcaggttcatgcAGATCGAGACCCGACGC chr8:9035826-Alternative-A;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Variant C acacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg ACCTATACCGCG CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaCgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAacctataccgcgAGATCGAGACCCGACGC chr8:9035826-Variant-C;Patient-31 chr8:9035826-TC DeNovo Patient-31 intergenic NA 0.000513 -0.68 0.02 -6.23 PPP1R3B 26673 Reference T acacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccgg CGTTAGTGCATT CGACGCGGTCTCTCTCTacacatccctttcctgggggaagtggcctccttatctataatttactccaTgagaaaggatgtcaggatggtctgggggaatagctctgctcatggccggAGAGGGAGACGGACGTCTCAATAAcgttagtgcattAGATCGAGACCCGACGC chr8:9035826-Reference-T;Patient-31 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Reference G gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AGCTAGGACGGT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAagctaggacggtAGATCGAGACCCGACGC chr8:91108086-Reference-G;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative T gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GTTCTATACGCT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgttctatacgctAGATCGAGACCCGACGC chr8:91108086-Alternative-T;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative T gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac CATAGTACCGGT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAcatagtaccggtAGATCGAGACCCGACGC chr8:91108086-Alternative-T;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative T gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac ACAACGGAACTT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAacaacggaacttAGATCGAGACCCGACGC chr8:91108086-Alternative-T;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative T gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GAGCTGTGTTAT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgagctgtgttatAGATCGAGACCCGACGC chr8:91108086-Alternative-T;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Reference G gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac CGCGATTACGCT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAcgcgattacgctAGATCGAGACCCGACGC chr8:91108086-Reference-G;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative T gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GAGTACGCGTGT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaTaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgagtacgcgtgtAGATCGAGACCCGACGC chr8:91108086-Alternative-T;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Reference G gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GTAATCCGTCGG CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgtaatccgtcggAGATCGAGACCCGACGC chr8:91108086-Reference-G;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative C gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GAGAGCGTACGT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgagagcgtacgtAGATCGAGACCCGACGC chr8:91108086-Alternative-C;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Variant A gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GTTACGGACGCT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgttacggacgctAGATCGAGACCCGACGC chr8:91108086-Variant-A;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative C gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GCGCGCAACTAA CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgcgcgcaactaaAGATCGAGACCCGACGC chr8:91108086-Alternative-C;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Reference G gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GCATGTAACGTT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgcatgtaacgttAGATCGAGACCCGACGC chr8:91108086-Reference-G;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Reference G gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AATAGCTCGCAT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaGaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAaatagctcgcatAGATCGAGACCCGACGC chr8:91108086-Reference-G;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Variant A gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac ACAAGGACGTGC CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAacaaggacgtgcAGATCGAGACCCGACGC chr8:91108086-Variant-A;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Variant A gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AGCGTACATGGT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAagcgtacatggtAGATCGAGACCCGACGC chr8:91108086-Variant-A;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative C gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac ACGTGGAATCAA CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAacgtggaatcaaAGATCGAGACCCGACGC chr8:91108086-Alternative-C;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative C gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AGCTTAAGTGCT CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAagcttaagtgctAGATCGAGACCCGACGC chr8:91108086-Alternative-C;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Variant A gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AGCTGACTAGAA CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAagctgactagaaAGATCGAGACCCGACGC chr8:91108086-Variant-A;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Variant A gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac GTAGTGTATTGC CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaAaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAgtagtgtattgcAGATCGAGACCCGACGC chr8:91108086-Variant-A;Patient-24 chr8:91108086-GA Inherited Patient-24 intergenic 3.2e-05 0.000513 -0.17 0.89 0 DECR1 94505 Alternative C gggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccac AAGGCGTACCAC CGACGCGGTCTCTCTCTgggtgtatacgtgcaagtcacaggggatgtgatggcttggcttgggctcaCaggcctgacaaatcccattaacaattcttgaaaattttagtttctccacAGAGGGAGACGGACGTCTCAATAAaaggcgtaccacAGATCGAGACCCGACGC chr8:91108086-Alternative-C;Patient-24 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Reference A tcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct AGGTATGGACTT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAaggtatggacttAGATCGAGACCCGACGC chr8:9318169-Reference-A;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Reference A tcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ATTGGCTCGCCA CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAattggctcgccaAGATCGAGACCCGACGC chr8:9318169-Reference-A;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Reference A tcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ACTATCTGTCGT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAactatctgtcgtAGATCGAGACCCGACGC chr8:9318169-Reference-A;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Reference A tcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct CTGGCGTCTAGT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAActggcgtctagtAGATCGAGACCCGACGC chr8:9318169-Reference-A;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative T tcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct AACTCGGTTCAT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAaactcggttcatAGATCGAGACCCGACGC chr8:9318169-Alternative-T;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative T tcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ACGAGTGGTGCA CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAacgagtggtgcaAGATCGAGACCCGACGC chr8:9318169-Alternative-T;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative T tcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct CAGACGACTAGA CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAcagacgactagaAGATCGAGACCCGACGC chr8:9318169-Alternative-T;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Reference A tcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct AGGTTGCTTGAT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataAtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAaggttgcttgatAGATCGAGACCCGACGC chr8:9318169-Reference-A;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Variant G tcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct AAGAAGATCGGT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAaagaagatcggtAGATCGAGACCCGACGC chr8:9318169-Variant-G;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative C tcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ACGCTAGCAACC CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAacgctagcaaccAGATCGAGACCCGACGC chr8:9318169-Alternative-C;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Variant G tcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct GACGGCTCTCAA CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAgacggctctcaaAGATCGAGACCCGACGC chr8:9318169-Variant-G;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative T tcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ACAGGCTCATTA CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAacaggctcattaAGATCGAGACCCGACGC chr8:9318169-Alternative-T;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative C tcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct AGTGACCGAGGT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAagtgaccgaggtAGATCGAGACCCGACGC chr8:9318169-Alternative-C;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative T tcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct CTTGAATGGTGG CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataTtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAActtgaatggtggAGATCGAGACCCGACGC chr8:9318169-Alternative-T;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative C tcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct GGAGGAGTCGTT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAggaggagtcgttAGATCGAGACCCGACGC chr8:9318169-Alternative-C;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative C tcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct ATCGTAAGTACC CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAatcgtaagtaccAGATCGAGACCCGACGC chr8:9318169-Alternative-C;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Variant G tcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct GTAAGTGAACGT CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAgtaagtgaacgtAGATCGAGACCCGACGC chr8:9318169-Variant-G;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Variant G tcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct CTAGCTTGCGAC CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAActagcttgcgacAGATCGAGACCCGACGC chr8:9318169-Variant-G;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Variant G tcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct CTATTGGACAAC CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataGtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAActattggacaacAGATCGAGACCCGACGC chr8:9318169-Variant-G;Patient-26 chr8:9318169-AG DeNovo Patient-26 intergenic NA 0.000512821 0.09 4.15 1.67 TNKS 95254 Alternative C tcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccct GATAATTGCGAG CGACGCGGTCTCTCTCTtcccaaggaaggaaataattaaaagaagaaataataataactttcttataCtgagtgcctaatatgtttatagtcctcttatatgcattctctaatccctAGAGGGAGACGGACGTCTCAATAAgataattgcgagAGATCGAGACCCGACGC chr8:9318169-Alternative-C;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Variant G aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CGGAGTCGAACT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcggagtcgaactAGATCGAGACCCGACGC chr8:9321573-Variant-G;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Reference T aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa ACTGTCGGCCTT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAactgtcggccttAGATCGAGACCCGACGC chr8:9321573-Reference-T;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Reference T aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa AAGGTTGGTCAA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAaaggttggtcaaAGATCGAGACCCGACGC chr8:9321573-Reference-T;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Reference T aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GGACTTAGCGAG CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAggacttagcgagAGATCGAGACCCGACGC chr8:9321573-Reference-T;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Variant G aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CGATCACAAGTT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcgatcacaagttAGATCGAGACCCGACGC chr8:9321573-Variant-G;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Reference T aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa AAGCGTCTGCCA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAaagcgtctgccaAGATCGAGACCCGACGC chr8:9321573-Reference-T;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Variant G aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CGTAAGCAGTAA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtaagcagtaaAGATCGAGACCCGACGC chr8:9321573-Variant-G;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Reference T aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GTCGTAAGCGTC CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaTaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAgtcgtaagcgtcAGATCGAGACCCGACGC chr8:9321573-Reference-T;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Variant G aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa AGTGCCGAGCAT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAagtgccgagcatAGATCGAGACCCGACGC chr8:9321573-Variant-G;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative A aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa ATACGCGATTCT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAatacgcgattctAGATCGAGACCCGACGC chr8:9321573-Alternative-A;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative A aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa AAGCATGGCTAA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAaagcatggctaaAGATCGAGACCCGACGC chr8:9321573-Alternative-A;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative A aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GCGAACTTCCGA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAgcgaacttccgaAGATCGAGACCCGACGC chr8:9321573-Alternative-A;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative C aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CGATGAGACAAG CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcgatgagacaagAGATCGAGACCCGACGC chr8:9321573-Alternative-C;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative C aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CAGTATACGTCG CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcagtatacgtcgAGATCGAGACCCGACGC chr8:9321573-Alternative-C;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative C aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CAACCAGTAACG CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAcaaccagtaacgAGATCGAGACCCGACGC chr8:9321573-Alternative-C;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Variant G aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GTTGTAACAGGT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaGaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAgttgtaacaggtAGATCGAGACCCGACGC chr8:9321573-Variant-G;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative C aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa ACACAACAGCGT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAacacaacagcgtAGATCGAGACCCGACGC chr8:9321573-Alternative-C;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative A aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa CTCGTGCGTAGA CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAActcgtgcgtagaAGATCGAGACCCGACGC chr8:9321573-Alternative-A;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative A aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GTTAATCCGGTT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaAaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAgttaatccggttAGATCGAGACCCGACGC chr8:9321573-Alternative-A;Patient-26 chr8:9321573-TG DeNovo Patient-26 intergenic NA 0.000513 -0.23 0.59 -3.94 TNKS 91850 Alternative C aatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaa GACAATGTGCTT CGACGCGGTCTCTCTCTaatagtgaatcagtattgaatgacaataatttcaaaggtaagttcaaaaaCaagctctttctaaaattcttttcatgagtcataccacaagagtaaaaaaAGAGGGAGACGGACGTCTCAATAAgacaatgtgcttAGATCGAGACCCGACGC chr8:9321573-Alternative-C;Patient-26 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Reference G acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga CTCGTTATTCCT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAActcgttattcctAGATCGAGACCCGACGC chr8:94846407-Reference-G;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Reference G acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GATTCTGGCTAT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgattctggctatAGATCGAGACCCGACGC chr8:94846407-Reference-G;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Reference G acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GGCTTCGTGTGA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAggcttcgtgtgaAGATCGAGACCCGACGC chr8:94846407-Reference-G;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Reference G acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GCGCGATTATTA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgcgcgattattaAGATCGAGACCCGACGC chr8:94846407-Reference-G;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative T acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga ACAACGAGCAAG CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAacaacgagcaagAGATCGAGACCCGACGC chr8:94846407-Alternative-T;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative T acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GCAGTACGCAAG CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgcagtacgcaagAGATCGAGACCCGACGC chr8:94846407-Alternative-T;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Reference G acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga AGGTATCGACTA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcGgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAaggtatcgactaAGATCGAGACCCGACGC chr8:94846407-Reference-G;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative T acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga CAGAGATCGCCT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAcagagatcgcctAGATCGAGACCCGACGC chr8:94846407-Alternative-T;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative C acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GATCAGCGGCAA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgatcagcggcaaAGATCGAGACCCGACGC chr8:94846407-Alternative-C;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative T acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga ACCGCTTGCCTA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAaccgcttgcctaAGATCGAGACCCGACGC chr8:94846407-Alternative-T;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Variant A acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga ACTGAACGGTAT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAactgaacggtatAGATCGAGACCCGACGC chr8:94846407-Variant-A;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative T acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GCCAAGCAACAC CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcTgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgccaagcaacacAGATCGAGACCCGACGC chr8:94846407-Alternative-T;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative C acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga AACTCGTGTTCT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAaactcgtgttctAGATCGAGACCCGACGC chr8:94846407-Alternative-C;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative C acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga ATTGGCGTCGCA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAattggcgtcgcaAGATCGAGACCCGACGC chr8:94846407-Alternative-C;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Variant A acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GTCGCATCGGAA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgtcgcatcggaaAGATCGAGACCCGACGC chr8:94846407-Variant-A;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Variant A acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GACGTTACTCTA CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgacgttactctaAGATCGAGACCCGACGC chr8:94846407-Variant-A;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Variant A acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga ATCGCTTGAGCG CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAatcgcttgagcgAGATCGAGACCCGACGC chr8:94846407-Variant-A;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Variant A acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga CTATTGCCTAAC CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcAgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAActattgcctaacAGATCGAGACCCGACGC chr8:94846407-Variant-A;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative C acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga CTCTTCGAGTAT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAActcttcgagtatAGATCGAGACCCGACGC chr8:94846407-Alternative-C;Patient-58 chr8:94846407-GA DeNovo Patient-58 intergenic 0.000164 0.00154 -0.08 1.57 0 TMEM67 79334 Alternative C acctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcaga GTTCGCAATAGT CGACGCGGTCTCTCTCTacctcccagacagggcggccaggcagaggtgcccacttcccagatggggcCgccaggcagaggtgctgcccacctcccagacaaagggcagctgggcagaAGAGGGAGACGGACGTCTCAATAAgttcgcaatagtAGATCGAGACCCGACGC chr8:94846407-Alternative-C;Patient-58 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative T gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataat GCGGCAGATTGA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgcggcagattgaAGATCGAGACCCGACGC chr8:95236055-Alternative-T;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative T gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataat GAATCGAACGAG CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgaatcgaacgagAGATCGAGACCCGACGC chr8:95236055-Alternative-T;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Variant A gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataat ACGATCCAAGCG CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAacgatccaagcgAGATCGAGACCCGACGC chr8:95236055-Variant-A;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Variant A gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataat GTACGGTTCAAT CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgtacggttcaatAGATCGAGACCCGACGC chr8:95236055-Variant-A;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Variant A gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataat GCGGACTTCGAA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgcggacttcgaaAGATCGAGACCCGACGC chr8:95236055-Variant-A;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative C gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataat GACCTCGTTAAC CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgacctcgttaacAGATCGAGACCCGACGC chr8:95236055-Alternative-C;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Variant A gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataat CAACGCCGTTGT CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcaacgccgttgtAGATCGAGACCCGACGC chr8:95236055-Variant-A;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative T gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataat CATCACGAACGT CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcatcacgaacgtAGATCGAGACCCGACGC chr8:95236055-Alternative-T;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative C gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataat CTTGCATTCTGA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAActtgcattctgaAGATCGAGACCCGACGC chr8:95236055-Alternative-C;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative T gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataat GGATGACGCGTT CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAggatgacgcgttAGATCGAGACCCGACGC chr8:95236055-Alternative-T;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative C gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataat GCCACTAGGTAC CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgccactaggtacAGATCGAGACCCGACGC chr8:95236055-Alternative-C;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative C gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataat CGCGCGAAGTTA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcgcgcgaagttaAGATCGAGACCCGACGC chr8:95236055-Alternative-C;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative C gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataat CGTTAAGGTCGC CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaCactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcgttaaggtcgcAGATCGAGACCCGACGC chr8:95236055-Alternative-C;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Alternative T gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataat CATTACTAACGC CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaTactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcattactaacgcAGATCGAGACCCGACGC chr8:95236055-Alternative-T;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Reference G gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataat CGACACGAACAG CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcgacacgaacagAGATCGAGACCCGACGC chr8:95236055-Reference-G;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Variant A gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataat AGGTGGCTAGCA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaAactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAaggtggctagcaAGATCGAGACCCGACGC chr8:95236055-Variant-A;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Reference G gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataat CGACACAGGTCA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAcgacacaggtcaAGATCGAGACCCGACGC chr8:95236055-Reference-G;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Reference G gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataat GTGTAAGCCAGA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAgtgtaagccagaAGATCGAGACCCGACGC chr8:95236055-Reference-G;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Reference G gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataat AACAATACGTGG CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAaacaatacgtggAGATCGAGACCCGACGC chr8:95236055-Reference-G;Patient-108 chr8:95236055-GA DeNovo Patient-108 intergenic NA 3.84e-05 0.68 10.94 3.35 GEM 38491 Reference G gcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataat AACGGCGGACTA CGACGCGGTCTCTCTCTgcctgggagtgaggggggatggagggaaaatgggaagattgtccacttgaGactaagcctccagaatctgcaggaattttggggatcattgcagcataatAGAGGGAGACGGACGTCTCAATAAaacggcggactaAGATCGAGACCCGACGC chr8:95236055-Reference-G;Patient-108 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative G acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CGTACCTGGAAC CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAcgtacctggaacAGATCGAGACCCGACGC chr8:95389802-Alternative-G;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative T acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc ACCGGACTGAAC CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAaccggactgaacAGATCGAGACCCGACGC chr8:95389802-Alternative-T;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Variant C acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CTGAGCACATCG CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAActgagcacatcgAGATCGAGACCCGACGC chr8:95389802-Variant-C;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative G acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CTGCTCGTTCGA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAActgctcgttcgaAGATCGAGACCCGACGC chr8:95389802-Alternative-G;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative G acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc AAGGAGTAGTCA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAaaggagtagtcaAGATCGAGACCCGACGC chr8:95389802-Alternative-G;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative T acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc AGATTCACGGAT CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAagattcacggatAGATCGAGACCCGACGC chr8:95389802-Alternative-T;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative G acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc AACTTGCGTAGA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAaacttgcgtagaAGATCGAGACCCGACGC chr8:95389802-Alternative-G;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative G acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CGGTAGGCCAAT CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaGaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAcggtaggccaatAGATCGAGACCCGACGC chr8:95389802-Alternative-G;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Variant C acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc ACTGCGTATATC CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAactgcgtatatcAGATCGAGACCCGACGC chr8:95389802-Variant-C;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Reference A acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CGGCGACATCTA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAcggcgacatctaAGATCGAGACCCGACGC chr8:95389802-Reference-A;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Variant C acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc GCACGCGCTTAA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAgcacgcgcttaaAGATCGAGACCCGACGC chr8:95389802-Variant-C;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative T acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc AATGCGGATAAG CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAaatgcggataagAGATCGAGACCCGACGC chr8:95389802-Alternative-T;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Reference A acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc GTCTATTGGTTC CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAgtctattggttcAGATCGAGACCCGACGC chr8:95389802-Reference-A;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Variant C acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc AGCTTACAGTGT CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAagcttacagtgtAGATCGAGACCCGACGC chr8:95389802-Variant-C;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Reference A acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc ATCGCGAACGAA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAatcgcgaacgaaAGATCGAGACCCGACGC chr8:95389802-Reference-A;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Reference A acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc ACACAGGACGAC CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAacacaggacgacAGATCGAGACCCGACGC chr8:95389802-Reference-A;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Variant C acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc GGACCGTAACAG CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaCaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAggaccgtaacagAGATCGAGACCCGACGC chr8:95389802-Variant-C;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative T acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CGCGGTACTAGA CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAAcgcggtactagaAGATCGAGACCCGACGC chr8:95389802-Alternative-T;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Alternative T acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CTATTCGCCACG CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaTaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAActattcgccacgAGATCGAGACCCGACGC chr8:95389802-Alternative-T;Patient-58 chr8:95389802-AC Inherited Patient-58 intronic RAD54B 0.000175 0.000148471 -0.28 0.41 -1.15 RAD54B 97540 Reference A acagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttc CTAACTTGCGCG CGACGCGGTCTCTCTCTacagagccagaccctgtcttggaaaaaaaaaaaaaaaaaaaaaaaaaaaaAaaaaaaactctaactccaaagccattacaccaggacttgaaagattttcAGAGGGAGACGGACGTCTCAATAActaacttgcgcgAGATCGAGACCCGACGC chr8:95389802-Reference-A;Patient-58 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Reference T ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ATCTCGTTCCAA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAatctcgttccaaAGATCGAGACCCGACGC chr8:95923578-Reference-T;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Reference T ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ACGTGTTACGAT CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAacgtgttacgatAGATCGAGACCCGACGC chr8:95923578-Reference-T;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Reference T ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GTATACCGTAAC CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgtataccgtaacAGATCGAGACCCGACGC chr8:95923578-Reference-T;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative A ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc CTAGTCTGACTT CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAActagtctgacttAGATCGAGACCCGACGC chr8:95923578-Alternative-A;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative A ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc AATGCAACATCG CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAaatgcaacatcgAGATCGAGACCCGACGC chr8:95923578-Alternative-A;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Reference T ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GAAGTGCTTACA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgaagtgcttacaAGATCGAGACCCGACGC chr8:95923578-Reference-T;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative A ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ACTGTGCGTTCG CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAactgtgcgttcgAGATCGAGACCCGACGC chr8:95923578-Alternative-A;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Reference T ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc AACGCGTGGAGA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccTacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAaacgcgtggagaAGATCGAGACCCGACGC chr8:95923578-Reference-T;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative G ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GAGCATAATGCA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgagcataatgcaAGATCGAGACCCGACGC chr8:95923578-Alternative-G;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative G ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GAAGATTCGGAT CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgaagattcggatAGATCGAGACCCGACGC chr8:95923578-Alternative-G;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Variant C ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc CGAATATCTGAC CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAcgaatatctgacAGATCGAGACCCGACGC chr8:95923578-Variant-C;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative G ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc CGCGTTCGACTA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAcgcgttcgactaAGATCGAGACCCGACGC chr8:95923578-Alternative-G;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative G ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GCGACATGCCAA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgcgacatgccaaAGATCGAGACCCGACGC chr8:95923578-Alternative-G;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative G ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ACGTACTAGGTT CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccGacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAacgtactaggttAGATCGAGACCCGACGC chr8:95923578-Alternative-G;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative A ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ATCGGCTAAGAT CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAatcggctaagatAGATCGAGACCCGACGC chr8:95923578-Alternative-A;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Variant C ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc CGCTGTAGGTTC CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAcgctgtaggttcAGATCGAGACCCGACGC chr8:95923578-Variant-C;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Alternative A ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GCAACTAGCGAG CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccAacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgcaactagcgagAGATCGAGACCCGACGC chr8:95923578-Alternative-A;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Variant C ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc GCGCTATCCTGA CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAgcgctatcctgaAGATCGAGACCCGACGC chr8:95923578-Variant-C;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Variant C ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc ACCACGTAACGC CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAaccacgtaacgcAGATCGAGACCCGACGC chr8:95923578-Variant-C;Patient-22 chr8:95923578-TC Inherited Patient-22 intergenic 0.000255 0.000513 -0.37 0.23 -5.07 CCNE2 16095 Variant C ttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatc CAAGCAAGATAC CGACGCGGTCTCTCTCTttaataaattacctaacctcagtcttcatctataaaaagggaataacaccCacctcacagtatataattaaaggaagtatacgaagcttgtaacattatcAGAGGGAGACGGACGTCTCAATAAcaagcaagatacAGATCGAGACCCGACGC chr8:95923578-Variant-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative G aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GGTCTGCCATGA CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAggtctgccatgaAGATCGAGACCCGACGC chr8:96197307-Alternative-G;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Variant T aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa CTCAACTGTGCG CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAActcaactgtgcgAGATCGAGACCCGACGC chr8:96197307-Variant-T;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative A aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa AGGTTAACGTCC CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAaggttaacgtccAGATCGAGACCCGACGC chr8:96197307-Alternative-A;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Variant T aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GGATCCACGTAA CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAggatccacgtaaAGATCGAGACCCGACGC chr8:96197307-Variant-T;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative A aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa CATAGGTAAGCG CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAcataggtaagcgAGATCGAGACCCGACGC chr8:96197307-Alternative-A;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative A aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa ACGCATATGGTT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAacgcatatggttAGATCGAGACCCGACGC chr8:96197307-Alternative-A;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Reference C aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa AGAACGAGCAGT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAagaacgagcagtAGATCGAGACCCGACGC chr8:96197307-Reference-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Reference C aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa CGAAGACGAATC CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAcgaagacgaatcAGATCGAGACCCGACGC chr8:96197307-Reference-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Reference C aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GTGCGGATTGAG CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAgtgcggattgagAGATCGAGACCCGACGC chr8:96197307-Reference-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative G aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa CGTCGTTATTGT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAcgtcgttattgtAGATCGAGACCCGACGC chr8:96197307-Alternative-G;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Reference C aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa AATATGCGCGAA CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAaatatgcgcgaaAGATCGAGACCCGACGC chr8:96197307-Reference-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative G aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa ACCTTACGCATC CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAaccttacgcatcAGATCGAGACCCGACGC chr8:96197307-Alternative-G;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative G aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GGCCATTGGCTT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAggccattggcttAGATCGAGACCCGACGC chr8:96197307-Alternative-G;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Variant T aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GCAGTAAGTAAG CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAgcagtaagtaagAGATCGAGACCCGACGC chr8:96197307-Variant-T;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Reference C aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa ACCAACAACCAC CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaCattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAaccaacaaccacAGATCGAGACCCGACGC chr8:96197307-Reference-C;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative A aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GCCGCTTCTAGT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAgccgcttctagtAGATCGAGACCCGACGC chr8:96197307-Alternative-A;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative G aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa AGCGTAGAATGT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaGattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAagcgtagaatgtAGATCGAGACCCGACGC chr8:96197307-Alternative-G;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Variant T aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa ATTCTGGCGTGG CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAattctggcgtggAGATCGAGACCCGACGC chr8:96197307-Variant-T;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Variant T aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa CTGAAGTTCGAT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaTattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAActgaagttcgatAGATCGAGACCCGACGC chr8:96197307-Variant-T;Patient-22 chr8:96197307-CT Inherited Patient-22 intergenic 0.00016 0.000513 0.47 9.07 -0.46 C8orf37 84154 Alternative A aaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaa GATAGCGAGATT CGACGCGGTCTCTCTCTaaaaaaatctcgaactaatagtcagcattatgtttaattaaacatagtcaAattaaagtctaaaaagatgagtgtcatcattattttcttgttctaaaaaAGAGGGAGACGGACGTCTCAATAAgatagcgagattAGATCGAGACCCGACGC chr8:96197307-Alternative-A;Patient-22 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative G ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca AGGCCGTCGATA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAaggccgtcgataAGATCGAGACCCGACGC chr8:96204561-Alternative-G;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative C ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CGAATACGCCAC CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAcgaatacgccacAGATCGAGACCCGACGC chr8:96204561-Alternative-C;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative G ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GAATCGTCTAAG CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAgaatcgtctaagAGATCGAGACCCGACGC chr8:96204561-Alternative-G;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative G ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GTCAAGACTAGA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAgtcaagactagaAGATCGAGACCCGACGC chr8:96204561-Alternative-G;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative C ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CTTGTCCTATGA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAActtgtcctatgaAGATCGAGACCCGACGC chr8:96204561-Alternative-C;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Reference A ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CGGATCATCAAT CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAcggatcatcaatAGATCGAGACCCGACGC chr8:96204561-Reference-A;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative C ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GGATCTCGATCG CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAggatctcgatcgAGATCGAGACCCGACGC chr8:96204561-Alternative-C;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Variant T ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca AGTAGTGCATGC CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAagtagtgcatgcAGATCGAGACCCGACGC chr8:96204561-Variant-T;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Reference A ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtca ATCCGTGGTCCT CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAatccgtggtcctAGATCGAGACCCGACGC chr8:96204561-Reference-A;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative C ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CGAACATCGGCA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAcgaacatcggcaAGATCGAGACCCGACGC chr8:96204561-Alternative-C;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Reference A ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtca AGAGTAACGCTA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAagagtaacgctaAGATCGAGACCCGACGC chr8:96204561-Reference-A;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative G ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GGATCGGCATTC CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAggatcggcattcAGATCGAGACCCGACGC chr8:96204561-Alternative-G;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Variant T ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GTGTACCGTGGT CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAgtgtaccgtggtAGATCGAGACCCGACGC chr8:96204561-Variant-T;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Reference A ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GGTATCACGCGA CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAggtatcacgcgaAGATCGAGACCCGACGC chr8:96204561-Reference-A;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative G ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CTGCTATAGGCG CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaGctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAActgctataggcgAGATCGAGACCCGACGC chr8:96204561-Alternative-G;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Variant T ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca AGACCAACGCAG CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAagaccaacgcagAGATCGAGACCCGACGC chr8:96204561-Variant-T;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Alternative C ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca ATAACGCGACCG CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaCctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAataacgcgaccgAGATCGAGACCCGACGC chr8:96204561-Alternative-C;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Variant T ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GCACGAGCCTAT CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAgcacgagcctatAGATCGAGACCCGACGC chr8:96204561-Variant-T;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Variant T ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtca GTAGCGGAGCTT CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaTctcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAgtagcggagcttAGATCGAGACCCGACGC chr8:96204561-Variant-T;Patient-99 chr8:96204561-AT DeNovo Patient-99 intergenic NA 0.000512821 0.1 4.23 -1.17 PLEKHF2 58611 Reference A ctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtca CAGGCTTATATC CGACGCGGTCTCTCTCTctatgatctgaatgcttgtttccccccaaaattcatatgctgaaatcctaActcccagggtgatattaggaggtgggggctttaggaggtgattaggtcaAGAGGGAGACGGACGTCTCAATAAcaggcttatatcAGATCGAGACCCGACGC chr8:96204561-Reference-A;Patient-99 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative A atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggttt GGATCTAACCGA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAggatctaaccgaAGATCGAGACCCGACGC chr8:97080133-Alternative-A;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Reference C atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggttt GACCTCTCAAGG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAgacctctcaaggAGATCGAGACCCGACGC chr8:97080133-Reference-C;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Variant T atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTAGGCGGTTCA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActaggcggttcaAGATCGAGACCCGACGC chr8:97080133-Variant-T;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative A atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTTGCCGCAACA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActtgccgcaacaAGATCGAGACCCGACGC chr8:97080133-Alternative-A;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative A atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggttt AAGCGGTCCGAA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAaagcggtccgaaAGATCGAGACCCGACGC chr8:97080133-Alternative-A;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative G atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTCTCTCAACGG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActctctcaacggAGATCGAGACCCGACGC chr8:97080133-Alternative-G;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative G atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTGCTTCAGTCG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActgcttcagtcgAGATCGAGACCCGACGC chr8:97080133-Alternative-G;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative G atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTCAACTGGTGG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActcaactggtggAGATCGAGACCCGACGC chr8:97080133-Alternative-G;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative A atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggttt ATATGGTTCCGA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAatatggttccgaAGATCGAGACCCGACGC chr8:97080133-Alternative-A;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Reference C atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggttt ACTCGGTTGCGA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAactcggttgcgaAGATCGAGACCCGACGC chr8:97080133-Reference-C;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Reference C atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggttt GTCTAGGCGGAT CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAgtctaggcggatAGATCGAGACCCGACGC chr8:97080133-Reference-C;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Reference C atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggttt AAGGCTACGATA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAaaggctacgataAGATCGAGACCCGACGC chr8:97080133-Reference-C;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative A atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggttt ATCAAGGCTACA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttAcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAatcaaggctacaAGATCGAGACCCGACGC chr8:97080133-Alternative-A;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative G atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggttt ACCTAACAACGC CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAacctaacaacgcAGATCGAGACCCGACGC chr8:97080133-Alternative-G;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Variant T atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggttt CTCGTATTCGAT CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAActcgtattcgatAGATCGAGACCCGACGC chr8:97080133-Variant-T;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Variant T atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggttt GCAATCTGTGAT CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAgcaatctgtgatAGATCGAGACCCGACGC chr8:97080133-Variant-T;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Variant T atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggttt GTTCGACTCATA CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAgttcgactcataAGATCGAGACCCGACGC chr8:97080133-Variant-T;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Alternative G atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggttt AGTCCGTTACGG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttGcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAagtccgttacggAGATCGAGACCCGACGC chr8:97080133-Alternative-G;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Reference C atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggttt AACTAATGTCGG CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttCcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAaactaatgtcggAGATCGAGACCCGACGC chr8:97080133-Reference-C;Patient-55 chr8:97080133-CT Inherited Patient-55 intergenic 0.000191 0.000513 -0.39 0.2 -1.95 GDF6 92886 Variant T atagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggttt GACGCTAAGATT CGACGCGGTCTCTCTCTatagccagtgcagatttctattaattcatactaggatagtgtatgtgcttTcatccttttagttttaatctatttgtgtctttatttttacatggggtttAGAGGGAGACGGACGTCTCAATAAgacgctaagattAGATCGAGACCCGACGC chr8:97080133-Variant-T;Patient-55 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtact ATCGCATACCTT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAatcgcataccttAGATCGAGACCCGACGC chr8:97262910-Alternative-T;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtact AGAACGTTCAGA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAagaacgttcagaAGATCGAGACCCGACGC chr8:97262910-Alternative-T;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtact GTAGTGGACGAC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAgtagtggacgacAGATCGAGACCCGACGC chr8:97262910-Alternative-T;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtact ACTTCGGCGTCA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAacttcggcgtcaAGATCGAGACCCGACGC chr8:97262910-Variant-G;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtact ACCGACATTCGC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAaccgacattcgcAGATCGAGACCCGACGC chr8:97262910-Variant-G;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtact AACACGGTCTAT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAaacacggtctatAGATCGAGACCCGACGC chr8:97262910-Variant-G;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtact CGATTGTGTAGT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAcgattgtgtagtAGATCGAGACCCGACGC chr8:97262910-Alternative-T;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtact CTAAGACGCCAC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAActaagacgccacAGATCGAGACCCGACGC chr8:97262910-Variant-G;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtact AAGGCGGTGTGA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaTggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAaaggcggtgtgaAGATCGAGACCCGACGC chr8:97262910-Alternative-T;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtact ACGAGAACTCAA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAacgagaactcaaAGATCGAGACCCGACGC chr8:97262910-Reference-A;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtact CTTACCGCTCCT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAActtaccgctcctAGATCGAGACCCGACGC chr8:97262910-Alternative-C;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtact GAGCACATGACT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAgagcacatgactAGATCGAGACCCGACGC chr8:97262910-Reference-A;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtact AGTTGTTCGAAG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaGggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAagttgttcgaagAGATCGAGACCCGACGC chr8:97262910-Variant-G;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtact CATCGGATGGAG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAcatcggatggagAGATCGAGACCCGACGC chr8:97262910-Alternative-C;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtact AGGTGACATGTT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAaggtgacatgttAGATCGAGACCCGACGC chr8:97262910-Reference-A;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtact CGTCGTGGTTCT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAcgtcgtggttctAGATCGAGACCCGACGC chr8:97262910-Alternative-C;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtact GCGCAAGAGCAA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAgcgcaagagcaaAGATCGAGACCCGACGC chr8:97262910-Alternative-C;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtact CAAGAGGTACAG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAcaagaggtacagAGATCGAGACCCGACGC chr8:97262910-Reference-A;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtact AGCATACTGCCA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaCggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAagcatactgccaAGATCGAGACCCGACGC chr8:97262910-Alternative-C;Patient-105 chr8:97262910-AG DeNovo Patient-105 intronic MTERF3 0.000645 0.00753626 -0.05 1.92 0 MTERF3 10885 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtact GAATAAGGATCG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaagaAggaggaggaggagggggggagggggagggggagaagaagaatgggtactAGAGGGAGACGGACGTCTCAATAAgaataaggatcgAGATCGAGACCCGACGC chr8:97262910-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CGGCTGACTTCT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcggctgacttctAGATCGAGACCCGACGC chr8:97262916-Alternative-C;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GGCTTGCGTAGA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAggcttgcgtagaAGATCGAGACCCGACGC chr8:97262916-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CTCAAGGTGTAC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAActcaaggtgtacAGATCGAGACCCGACGC chr8:97262916-Alternative-T;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GCCTGCCGATAT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAgcctgccgatatAGATCGAGACCCGACGC chr8:97262916-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GACATAGTTGCT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAgacatagttgctAGATCGAGACCCGACGC chr8:97262916-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GCGGTATCAAGG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAgcggtatcaaggAGATCGAGACCCGACGC chr8:97262916-Alternative-C;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CAACCGATTGAT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcaaccgattgatAGATCGAGACCCGACGC chr8:97262916-Alternative-C;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GGATGATCCGTC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAggatgatccgtcAGATCGAGACCCGACGC chr8:97262916-Alternative-C;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatg GTAATACGGTTC CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAgtaatacggttcAGATCGAGACCCGACGC chr8:97262916-Alternative-T;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative C gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CTATAAGGTACG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggCggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAActataaggtacgAGATCGAGACCCGACGC chr8:97262916-Alternative-C;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CGGCAGATTATT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcggcagattattAGATCGAGACCCGACGC chr8:97262916-Alternative-T;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatg ACCGAAGGATAT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAaccgaaggatatAGATCGAGACCCGACGC chr8:97262916-Alternative-T;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CTCGTCATTGAA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAActcgtcattgaaAGATCGAGACCCGACGC chr8:97262916-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Reference A gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CACGAAGCTCGT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggAggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcacgaagctcgtAGATCGAGACCCGACGC chr8:97262916-Reference-A;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Alternative T gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatg AGATCGCGATCG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggTggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAagatcgcgatcgAGATCGAGACCCGACGC chr8:97262916-Alternative-T;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatg ACCGCAATTGCG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAaccgcaattgcgAGATCGAGACCCGACGC chr8:97262916-Variant-G;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CGGAGGAGTTCT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcggaggagttctAGATCGAGACCCGACGC chr8:97262916-Variant-G;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CATCATCACGAA CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcatcatcacgaaAGATCGAGACCCGACGC chr8:97262916-Variant-G;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatg CGAGTGTCGTGT CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAcgagtgtcgtgtAGATCGAGACCCGACGC chr8:97262916-Variant-G;Patient-105 chr8:97262916-AG DeNovo Patient-105 intronic MTERF3 0.000282 0.014266755 -0.06 1.86 0 MTERF3 10879 Variant G gaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatg ATCGACCTGTGG CGACGCGGTCTCTCTCTgaagaagaagaagaagaagaagaagaagaagaagaagaagaagaaggaggGggaggagggggggagggggagggggagaagaagaatgggtacttgaatgAGAGGGAGACGGACGTCTCAATAAatcgacctgtggAGATCGAGACCCGACGC chr8:97262916-Variant-G;Patient-105 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Variant A gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctct GGCTGCTCACTT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAggctgctcacttAGATCGAGACCCGACGC chr8:98929279-Variant-A;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative T gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctct ACTACCGGCGAT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAactaccggcgatAGATCGAGACCCGACGC chr8:98929279-Alternative-T;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative T gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctct GGTGTATCACTA CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAggtgtatcactaAGATCGAGACCCGACGC chr8:98929279-Alternative-T;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative T gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctct AGAATGGACCGG CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAagaatggaccggAGATCGAGACCCGACGC chr8:98929279-Alternative-T;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Variant A gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctct GCGAATGTGCAG CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgcgaatgtgcagAGATCGAGACCCGACGC chr8:98929279-Variant-A;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative T gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctct GCCAGGATTGTC CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgccaggattgtcAGATCGAGACCCGACGC chr8:98929279-Alternative-T;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Reference G gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctct GTTGAGGCGAAC CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgttgaggcgaacAGATCGAGACCCGACGC chr8:98929279-Reference-G;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Variant A gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctct AACCATGTTCCT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAaaccatgttcctAGATCGAGACCCGACGC chr8:98929279-Variant-A;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Variant A gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctct CATTGTTAGTGG CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAcattgttagtggAGATCGAGACCCGACGC chr8:98929279-Variant-A;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Variant A gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctct GCGCTAGCGTAA CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttAagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgcgctagcgtaaAGATCGAGACCCGACGC chr8:98929279-Variant-A;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative T gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctct CTTAGCTTCGGC CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttTagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAActtagcttcggcAGATCGAGACCCGACGC chr8:98929279-Alternative-T;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Reference G gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctct GCGATAGACGGT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgcgatagacggtAGATCGAGACCCGACGC chr8:98929279-Reference-G;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative C gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctct AATCGACGTCGT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAaatcgacgtcgtAGATCGAGACCCGACGC chr8:98929279-Alternative-C;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative C gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctct GCAGCGTTGCAT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgcagcgttgcatAGATCGAGACCCGACGC chr8:98929279-Alternative-C;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative C gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctct GGTCAGTGCAAG CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAggtcagtgcaagAGATCGAGACCCGACGC chr8:98929279-Alternative-C;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative C gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctct CAGTAAGCGTAT CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAcagtaagcgtatAGATCGAGACCCGACGC chr8:98929279-Alternative-C;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Alternative C gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctct GATAAGTATCGC CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttCagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAgataagtatcgcAGATCGAGACCCGACGC chr8:98929279-Alternative-C;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Reference G gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctct AGACCTAACGGC CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAagacctaacggcAGATCGAGACCCGACGC chr8:98929279-Reference-G;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Reference G gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctct CGTAGCAGACGA CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAcgtagcagacgaAGATCGAGACCCGACGC chr8:98929279-Reference-G;Patient-69 chr8:98929279-GA DeNovo Patient-69 intronic MATN2 9.6e-05 4.95e-05 2.01 19.3 4.38 MATN2 47967 Reference G gctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctct GGCGTGTATTCG CGACGCGGTCTCTCTCTgctgtcttcctggaggaatttatgacagtcagcagggacaactgaaatttGagctggtgtgaacccataatccctcagggccctactggctggagtctctAGAGGGAGACGGACGTCTCAATAAggcgtgtattcgAGATCGAGACCCGACGC chr8:98929279-Reference-G;Patient-69 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Reference C aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CTCAACTTGACT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAActcaacttgactAGATCGAGACCCGACGC chr8:99874254-Reference-C;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Reference C aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt GATGACGGAGCT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAgatgacggagctAGATCGAGACCCGACGC chr8:99874254-Reference-C;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative A aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CGGCGTACAGAA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcggcgtacagaaAGATCGAGACCCGACGC chr8:99874254-Alternative-A;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative T aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CAATGAGTGGAT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcaatgagtggatAGATCGAGACCCGACGC chr8:99874254-Alternative-T;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Reference C aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt AAGTCATTCGGT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAaagtcattcggtAGATCGAGACCCGACGC chr8:99874254-Reference-C;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Reference C aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt GCATCGCGTAAT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAgcatcgcgtaatAGATCGAGACCCGACGC chr8:99874254-Reference-C;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative T aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt AGTGAACCTCGG CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAagtgaacctcggAGATCGAGACCCGACGC chr8:99874254-Alternative-T;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Reference C aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt ACGTGAACCGCA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaCtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAacgtgaaccgcaAGATCGAGACCCGACGC chr8:99874254-Reference-C;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative T aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CGGTCGGACATA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcggtcggacataAGATCGAGACCCGACGC chr8:99874254-Alternative-T;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Variant G aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt GGTAGCGCGATT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAggtagcgcgattAGATCGAGACCCGACGC chr8:99874254-Variant-G;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative A aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt AGACGGTGTCGA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAagacggtgtcgaAGATCGAGACCCGACGC chr8:99874254-Alternative-A;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Variant G aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CGACAGTATCAG CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcgacagtatcagAGATCGAGACCCGACGC chr8:99874254-Variant-G;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative T aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CACGGTGGTCAT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcacggtggtcatAGATCGAGACCCGACGC chr8:99874254-Alternative-T;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative T aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CGATACTATGGT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaTtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcgatactatggtAGATCGAGACCCGACGC chr8:99874254-Alternative-T;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative A aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CTAGCGTCGATA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAActagcgtcgataAGATCGAGACCCGACGC chr8:99874254-Alternative-A;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative A aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CGGATGAATCGC CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAcggatgaatcgcAGATCGAGACCCGACGC chr8:99874254-Alternative-A;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Alternative A aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt ATTAACGGTCCA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaAtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAattaacggtccaAGATCGAGACCCGACGC chr8:99874254-Alternative-A;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Variant G aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt AGAAGATCCTGA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAagaagatcctgaAGATCGAGACCCGACGC chr8:99874254-Variant-G;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Variant G aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt CTGTGTTAGAGT CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAActgtgttagagtAGATCGAGACCCGACGC chr8:99874254-Variant-G;Patient-77 chr8:99874254-CG DeNovo Patient-77 intronic STK3 6.4e-05 0.00016 NA NA NA STK3 80544 Variant G aatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggt GGTGTACCTACA CGACGCGGTCTCTCTCTaatgaaagtgcctgccagattcagtaaatgtgcaggggtcttttttcccaGtcaaacctgtggccccaattcacccaaatccttgaggcccactctgggtAGAGGGAGACGGACGTCTCAATAAggtgtacctacaAGATCGAGACCCGACGC chr8:99874254-Variant-G;Patient-77 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative C tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaa AGATCATAGCGA CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAagatcatagcgaAGATCGAGACCCGACGC chr8:99920421-Alternative-C;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative C tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaa AATAGGCTTCGT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAaataggcttcgtAGATCGAGACCCGACGC chr8:99920421-Alternative-C;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Reference G tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaa AGATGATGGAGT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAagatgatggagtAGATCGAGACCCGACGC chr8:99920421-Reference-G;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Reference G tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaa AAGCGGAGATGC CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAaagcggagatgcAGATCGAGACCCGACGC chr8:99920421-Reference-G;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative C tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaa CTAGCCGTAGTC CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAActagccgtagtcAGATCGAGACCCGACGC chr8:99920421-Alternative-C;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Reference G tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaa AATGAGTAGCCA CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAaatgagtagccaAGATCGAGACCCGACGC chr8:99920421-Reference-G;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative C tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaa AGTTCGAGTACT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAagttcgagtactAGATCGAGACCCGACGC chr8:99920421-Alternative-C;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Variant A tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaa CAATAGCGCGCA CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAcaatagcgcgcaAGATCGAGACCCGACGC chr8:99920421-Variant-A;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Reference G tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaa GGCTGTTCATGG CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAggctgttcatggAGATCGAGACCCGACGC chr8:99920421-Reference-G;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Variant A tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaa CACACTATAGGT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAcacactataggtAGATCGAGACCCGACGC chr8:99920421-Variant-A;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Reference G tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaa GTTCTATGGTCG CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctGattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAgttctatggtcgAGATCGAGACCCGACGC chr8:99920421-Reference-G;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Variant A tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaa GGATAAGTGACT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAggataagtgactAGATCGAGACCCGACGC chr8:99920421-Variant-A;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative C tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaa ATTACCGCGACC CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctCattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAattaccgcgaccAGATCGAGACCCGACGC chr8:99920421-Alternative-C;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Variant A tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaa GGAACGTACGAC CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAggaacgtacgacAGATCGAGACCCGACGC chr8:99920421-Variant-A;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative T tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaa CATAAGCCACTA CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAcataagccactaAGATCGAGACCCGACGC chr8:99920421-Alternative-T;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative T tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaa ATACGGTGCGCT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAatacggtgcgctAGATCGAGACCCGACGC chr8:99920421-Alternative-T;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative T tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaa CTCATAGTTGCT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAActcatagttgctAGATCGAGACCCGACGC chr8:99920421-Alternative-T;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Variant A tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaa CGTCGTCGAATC CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctAattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAcgtcgtcgaatcAGATCGAGACCCGACGC chr8:99920421-Variant-A;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative T tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaa ACCAACCGAAGG CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAaccaaccgaaggAGATCGAGACCCGACGC chr8:99920421-Alternative-T;Patient-34 chr8:99920421-GA DeNovo Patient-34 intronic STK3 NA 0.00016 -0.13 1.18 -0.61 STK3 34377 Alternative T tcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaa GCATGAGTGAAT CGACGCGGTCTCTCTCTtcactacctagattcactatttcagaaagggtgcaaaatggtgatactctTattctatcatttcttcttcatttattagctagaatacttctctaaggaaAGAGGGAGACGGACGTCTCAATAAgcatgagtgaatAGATCGAGACCCGACGC chr8:99920421-Alternative-T;Patient-34 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative T ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ACGTGGCTAAGG CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAacgtggctaaggAGATCGAGACCCGACGC chr9:100263832-Alternative-T;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative T ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ACTGAAGCTCTA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAactgaagctctaAGATCGAGACCCGACGC chr9:100263832-Alternative-T;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Reference G ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc GATCGTCTTCAT CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAgatcgtcttcatAGATCGAGACCCGACGC chr9:100263832-Reference-G;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Reference G ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ACTTCCGGTGCA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAacttccggtgcaAGATCGAGACCCGACGC chr9:100263832-Reference-G;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Reference G ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ACTTGAGCTACC CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAacttgagctaccAGATCGAGACCCGACGC chr9:100263832-Reference-G;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative T ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc AGCGGCATGAGT CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAagcggcatgagtAGATCGAGACCCGACGC chr9:100263832-Alternative-T;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative T ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc CACGTCAACATA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAcacgtcaacataAGATCGAGACCCGACGC chr9:100263832-Alternative-T;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Reference G ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc GGAACGTGGAGA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAggaacgtggagaAGATCGAGACCCGACGC chr9:100263832-Reference-G;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Reference G ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ATAGTTGGAGCA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggGggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAatagttggagcaAGATCGAGACCCGACGC chr9:100263832-Reference-G;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative T ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ATCTGTTCGTCA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggTggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAatctgttcgtcaAGATCGAGACCCGACGC chr9:100263832-Alternative-T;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative A ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc AGTTCTGAGCAT CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAagttctgagcatAGATCGAGACCCGACGC chr9:100263832-Alternative-A;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Variant C ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc CGCGCGAATTGA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAcgcgcgaattgaAGATCGAGACCCGACGC chr9:100263832-Variant-C;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Variant C ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc CGAGATGTTGCG CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAcgagatgttgcgAGATCGAGACCCGACGC chr9:100263832-Variant-C;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative A ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc ACACGAATCCGG CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAacacgaatccggAGATCGAGACCCGACGC chr9:100263832-Alternative-A;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative A ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc CGGTGATATGTT CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAcggtgatatgttAGATCGAGACCCGACGC chr9:100263832-Alternative-A;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Variant C ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc CTATGCGTAACC CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAActatgcgtaaccAGATCGAGACCCGACGC chr9:100263832-Variant-C;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative A ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc AACAAGACGGCA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAaacaagacggcaAGATCGAGACCCGACGC chr9:100263832-Alternative-A;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Variant C ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc GCCACTTAGACA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAgccacttagacaAGATCGAGACCCGACGC chr9:100263832-Variant-C;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Alternative A ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc GCGAACGAGACA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggAggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAgcgaacgagacaAGATCGAGACCCGACGC chr9:100263832-Alternative-A;Patient-59 chr9:100263832-GC DeNovo Patient-59 intronic TMOD1 0.000371 0.00016 0.2 5.87 -3.82 TMOD1 369 Variant C ccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagc GGTACGAGGCTA CGACGCGGTCTCTCTCTccgcgtcccgacggggaagtgcgctgcgcccgggcgcccccgagtggaggCggggggaaggagggagccggcggcgggcggggcggggcgcggtgacagcAGAGGGAGACGGACGTCTCAATAAggtacgaggctaAGATCGAGACCCGACGC chr9:100263832-Variant-C;Patient-59 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Reference C caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaata ACACGCGGAGAA CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAacacgcggagaaAGATCGAGACCCGACGC chr9:100592584-Reference-C;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative A caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GGTGGCTTACAC CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAggtggcttacacAGATCGAGACCCGACGC chr9:100592584-Alternative-A;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Reference C caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CAACTGAGATGA CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcaactgagatgaAGATCGAGACCCGACGC chr9:100592584-Reference-C;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative A caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CGAGTAACGAGA CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcgagtaacgagaAGATCGAGACCCGACGC chr9:100592584-Alternative-A;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative G caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GCGTAGTGGTCA CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAgcgtagtggtcaAGATCGAGACCCGACGC chr9:100592584-Alternative-G;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative A caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CTGGTCGTACCT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAActggtcgtacctAGATCGAGACCCGACGC chr9:100592584-Alternative-A;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative G caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CTAGTCTAGGAT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAActagtctaggatAGATCGAGACCCGACGC chr9:100592584-Alternative-G;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative A caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaata ACGCACGGTAAG CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAacgcacggtaagAGATCGAGACCCGACGC chr9:100592584-Alternative-A;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Reference C caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GGCGCTGACTAT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAggcgctgactatAGATCGAGACCCGACGC chr9:100592584-Reference-C;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Variant T caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GGTCACGTTGAC CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAggtcacgttgacAGATCGAGACCCGACGC chr9:100592584-Variant-T;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Variant T caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GTCGTCTGGTCT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAgtcgtctggtctAGATCGAGACCCGACGC chr9:100592584-Variant-T;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Reference C caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GAGATCCGTTCG CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAgagatccgttcgAGATCGAGACCCGACGC chr9:100592584-Reference-C;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative G caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaata AAGGTGCGTCCT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAaaggtgcgtcctAGATCGAGACCCGACGC chr9:100592584-Alternative-G;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative G caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaata AACACGGTGACG CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAaacacggtgacgAGATCGAGACCCGACGC chr9:100592584-Alternative-G;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative A caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaata GGTCGCATTGGT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaAcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAggtcgcattggtAGATCGAGACCCGACGC chr9:100592584-Alternative-A;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Variant T caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CGCCGTATTAGG CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcgccgtattaggAGATCGAGACCCGACGC chr9:100592584-Variant-T;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Variant T caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CGAATAACGCGC CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcgaataacgcgcAGATCGAGACCCGACGC chr9:100592584-Variant-T;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Variant T caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CGGAATATGCGC CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaTcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcggaatatgcgcAGATCGAGACCCGACGC chr9:100592584-Variant-T;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Reference C caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaata ACTGGTTCTGAA CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaCcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAactggttctgaaAGATCGAGACCCGACGC chr9:100592584-Reference-C;Patient-66 chr9:100592584-CT DeNovo Patient-66 intergenic NA 0.000513 0.02 2.9 0.54 FOXE1 22952 Alternative G caggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaata CAGACGGCGAAT CGACGCGGTCTCTCTCTcaggtgatttcaatgtatttccaggtgattttaatgtgcaggactgagaaGcaattatctagatttacaaagagaagcatagaaagatgggtggagaataAGAGGGAGACGGACGTCTCAATAAcagacggcgaatAGATCGAGACCCGACGC chr9:100592584-Alternative-G;Patient-66 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Reference C gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GCGTGCCGTATT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAgcgtgccgtattAGATCGAGACCCGACGC chr9:100623783-Reference-C;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Reference C gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GTCGTCGCGATA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAgtcgtcgcgataAGATCGAGACCCGACGC chr9:100623783-Reference-C;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Reference C gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacat ACGTCGATAAGA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAacgtcgataagaAGATCGAGACCCGACGC chr9:100623783-Reference-C;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Reference C gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacat ATCGGCTACGCA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAatcggctacgcaAGATCGAGACCCGACGC chr9:100623783-Reference-C;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Reference C gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacat CAACGATACTGA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaCatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAcaacgatactgaAGATCGAGACCCGACGC chr9:100623783-Reference-C;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative G gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacat CGGCTAACCTGT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAcggctaacctgtAGATCGAGACCCGACGC chr9:100623783-Alternative-G;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative G gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacat AGATCGGTGTAA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAagatcggtgtaaAGATCGAGACCCGACGC chr9:100623783-Alternative-G;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative A gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacat AGGTTAGTATGG CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAaggttagtatggAGATCGAGACCCGACGC chr9:100623783-Alternative-A;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative G gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GGCCGAAGTATA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAggccgaagtataAGATCGAGACCCGACGC chr9:100623783-Alternative-G;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative G gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacat CGTGAAGGCCAT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAcgtgaaggccatAGATCGAGACCCGACGC chr9:100623783-Alternative-G;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative A gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacat AGTCGACTGTGC CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAagtcgactgtgcAGATCGAGACCCGACGC chr9:100623783-Alternative-A;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative A gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacat AGCTGCCGTACT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAagctgccgtactAGATCGAGACCCGACGC chr9:100623783-Alternative-A;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative A gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GCGTTCGGATGT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAgcgttcggatgtAGATCGAGACCCGACGC chr9:100623783-Alternative-A;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Variant T gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacat ACGAAGGATCTA CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAacgaaggatctaAGATCGAGACCCGACGC chr9:100623783-Variant-T;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Variant T gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacat ATCCTGTATTGC CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAatcctgtattgcAGATCGAGACCCGACGC chr9:100623783-Variant-T;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative G gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacat ATCGCTTCAGAT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaGatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAatcgcttcagatAGATCGAGACCCGACGC chr9:100623783-Alternative-G;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Variant T gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacat CTCTAGTCTCTT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAActctagtctcttAGATCGAGACCCGACGC chr9:100623783-Variant-T;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Variant T gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacat CTTGGTATGCTT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAActtggtatgcttAGATCGAGACCCGACGC chr9:100623783-Variant-T;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Variant T gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GTATCGACTTCT CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaTatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAgtatcgacttctAGATCGAGACCCGACGC chr9:100623783-Variant-T;Patient-30 chr9:100623783-CT Inherited Patient-30 intergenic NA 0.000513 NA NA NA FOXE1 8245 Alternative A gtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacat GGATGCTGTTCG CGACGCGGTCTCTCTCTgtttccacgagcagtcctgtgaagggtttctcacagtatgaagaaaactaAatttaatatgaatgttttcaaaaatttccactcccacatcataacacatAGAGGGAGACGGACGTCTCAATAAggatgctgttcgAGATCGAGACCCGACGC chr9:100623783-Alternative-A;Patient-30 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative T caccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttct CGTGATTCCGTC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAcgtgattccgtcAGATCGAGACCCGACGC chr9:100626801-Alternative-T;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative T caccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttct CAGGTATCCGAT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAcaggtatccgatAGATCGAGACCCGACGC chr9:100626801-Alternative-T;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Variant A caccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttct GCGACGGAATGT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgcgacggaatgtAGATCGAGACCCGACGC chr9:100626801-Variant-A;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Variant A caccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttct ACCGCTTCATAT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAaccgcttcatatAGATCGAGACCCGACGC chr9:100626801-Variant-A;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Variant A caccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttct AGCTACTAACGG CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAagctactaacggAGATCGAGACCCGACGC chr9:100626801-Variant-A;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Variant A caccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttct AGCGGTTGATGG CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAagcggttgatggAGATCGAGACCCGACGC chr9:100626801-Variant-A;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative T caccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttct CATCGTAGATGT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAcatcgtagatgtAGATCGAGACCCGACGC chr9:100626801-Alternative-T;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative C caccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttct ATAAGAGGTACG CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAataagaggtacgAGATCGAGACCCGACGC chr9:100626801-Alternative-C;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative C caccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttct CAACAACGACGC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAcaacaacgacgcAGATCGAGACCCGACGC chr9:100626801-Alternative-C;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative T caccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttct AGTGACGTCGCT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAagtgacgtcgctAGATCGAGACCCGACGC chr9:100626801-Alternative-T;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative C caccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttct AGTCCGCGTATC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAagtccgcgtatcAGATCGAGACCCGACGC chr9:100626801-Alternative-C;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative T caccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttct GGAAGTGCGGAT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatTcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAggaagtgcggatAGATCGAGACCCGACGC chr9:100626801-Alternative-T;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Variant A caccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttct GTCGCTGACTTC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatAcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgtcgctgacttcAGATCGAGACCCGACGC chr9:100626801-Variant-A;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative C caccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttct ATACGAAGACGC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAatacgaagacgcAGATCGAGACCCGACGC chr9:100626801-Alternative-C;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Alternative C caccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttct GTACAGTGTGAA CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatCcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgtacagtgtgaaAGATCGAGACCCGACGC chr9:100626801-Alternative-C;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Reference G caccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttct AAGTGATGACCA CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAaagtgatgaccaAGATCGAGACCCGACGC chr9:100626801-Reference-G;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Reference G caccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttct GCATAGGTAAGG CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgcataggtaaggAGATCGAGACCCGACGC chr9:100626801-Reference-G;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Reference G caccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttct GTTATCTGCCAT CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgttatctgccatAGATCGAGACCCGACGC chr9:100626801-Reference-G;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Reference G caccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttct GTTCGTTGACGG CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAgttcgttgacggAGATCGAGACCCGACGC chr9:100626801-Reference-G;Patient-77 chr9:100626801-GA DeNovo Patient-77 intergenic 0.000159 0.000513 NA NA NA FOXE1 11263 Reference G caccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttct CACGAGAACGTC CGACGCGGTCTCTCTCTcaccaaactttcccatagttactgcaccattttgcattcccaccagcaatGcatgaggattccagtttctccacattcttaccagcacttgttattttctAGAGGGAGACGGACGTCTCAATAAcacgagaacgtcAGATCGAGACCCGACGC chr9:100626801-Reference-G;Patient-77 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative C tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa GCGCCGTAACTT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAgcgccgtaacttAGATCGAGACCCGACGC chr9:100809796-Alternative-C;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Variant A tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CTCATGGATCGC CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAActcatggatcgcAGATCGAGACCCGACGC chr9:100809796-Variant-A;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Reference T tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa GAGTTGCATACG CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAgagttgcatacgAGATCGAGACCCGACGC chr9:100809796-Reference-T;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Reference T tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CGTCTTCATAAC CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcgtcttcataacAGATCGAGACCCGACGC chr9:100809796-Reference-T;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative G tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ACTCTGACACCG CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAactctgacaccgAGATCGAGACCCGACGC chr9:100809796-Alternative-G;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative G tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ACGTTGAACATC CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAacgttgaacatcAGATCGAGACCCGACGC chr9:100809796-Alternative-G;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Variant A tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa AGTTCTAGCCTA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAagttctagcctaAGATCGAGACCCGACGC chr9:100809796-Variant-A;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative C tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CATATACACACG CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcatatacacacgAGATCGAGACCCGACGC chr9:100809796-Alternative-C;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative G tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CGCAACCAGTAT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcgcaaccagtatAGATCGAGACCCGACGC chr9:100809796-Alternative-G;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative C tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CAATAGCCGCGA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcaatagccgcgaAGATCGAGACCCGACGC chr9:100809796-Alternative-C;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative C tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CAGATCTGGCGA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcagatctggcgaAGATCGAGACCCGACGC chr9:100809796-Alternative-C;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Variant A tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa GGCTAATGTTCT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAggctaatgttctAGATCGAGACCCGACGC chr9:100809796-Variant-A;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Reference T tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ACGAGACATCGT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAacgagacatcgtAGATCGAGACCCGACGC chr9:100809796-Reference-T;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative G tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ATTATCGCTCGT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAattatcgctcgtAGATCGAGACCCGACGC chr9:100809796-Alternative-G;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative C tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ACAAGACGTACA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcCgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAacaagacgtacaAGATCGAGACCCGACGC chr9:100809796-Alternative-C;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Alternative G tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa GGAGATAACGTT CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcGgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAggagataacgttAGATCGAGACCCGACGC chr9:100809796-Alternative-G;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Variant A tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CGTAACGGAACG CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAcgtaacggaacgAGATCGAGACCCGACGC chr9:100809796-Variant-A;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Reference T tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa CTTGTTGGCGCA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAActtgttggcgcaAGATCGAGACCCGACGC chr9:100809796-Reference-T;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Reference T tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa GACGTTCAGACA CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcTgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAgacgttcagacaAGATCGAGACCCGACGC chr9:100809796-Reference-T;Patient-37 chr9:100809796-TA DeNovo Patient-37 intergenic 3.2e-05 0.000512821 0.72 11.25 0 NANS 9162 Variant A tccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaa ATCTGGCGTACC CGACGCGGTCTCTCTCTtccttgggtaaaacaggaggcaccacagagcctgttttgggaaaaacctcAgtttttctcatgaaaccccaggaattggaagcagttagagccctctcaaAGAGGGAGACGGACGTCTCAATAAatctggcgtaccAGATCGAGACCCGACGC chr9:100809796-Variant-A;Patient-37 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative G ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt AACGATTCGTCA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAaacgattcgtcaAGATCGAGACCCGACGC chr9:101749753-Alternative-G;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative G ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CGCGTGAACAAG CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAcgcgtgaacaagAGATCGAGACCCGACGC chr9:101749753-Alternative-G;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative G ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt AGGCGGACAACA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAaggcggacaacaAGATCGAGACCCGACGC chr9:101749753-Alternative-G;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative G ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt ATTCGGAACAAG CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAattcggaacaagAGATCGAGACCCGACGC chr9:101749753-Alternative-G;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative A ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GGAATTGAAGCT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAggaattgaagctAGATCGAGACCCGACGC chr9:101749753-Alternative-A;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative A ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CTAATCGGACTT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAActaatcggacttAGATCGAGACCCGACGC chr9:101749753-Alternative-A;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Variant T ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt ACGGTACAGATA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAacggtacagataAGATCGAGACCCGACGC chr9:101749753-Variant-T;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Variant T ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GCGTTACTTAAC CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAgcgttacttaacAGATCGAGACCCGACGC chr9:101749753-Variant-T;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative G ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CGATATAGCGTT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctGattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAcgatatagcgttAGATCGAGACCCGACGC chr9:101749753-Alternative-G;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Variant T ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GCGTCCTTGGTT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAgcgtccttggttAGATCGAGACCCGACGC chr9:101749753-Variant-T;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative A ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GTGTAGGTCGTC CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAgtgtaggtcgtcAGATCGAGACCCGACGC chr9:101749753-Alternative-A;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Variant T ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CTAGTTGGCCGT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAActagttggccgtAGATCGAGACCCGACGC chr9:101749753-Variant-T;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative A ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt ACAGATTGCCTT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAacagattgccttAGATCGAGACCCGACGC chr9:101749753-Alternative-A;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Alternative A ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GTTAGATGCTGT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctAattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAgttagatgctgtAGATCGAGACCCGACGC chr9:101749753-Alternative-A;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Reference C ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CATCGACTCAGA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAcatcgactcagaAGATCGAGACCCGACGC chr9:101749753-Reference-C;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Reference C ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt GTACGCAGACGA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAgtacgcagacgaAGATCGAGACCCGACGC chr9:101749753-Reference-C;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Variant T ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CGGAGGTTCTGA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctTattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAcggaggttctgaAGATCGAGACCCGACGC chr9:101749753-Variant-T;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Reference C ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CTAGTGCTTCGA CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAActagtgcttcgaAGATCGAGACCCGACGC chr9:101749753-Reference-C;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Reference C ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt CAAGTAATCGGT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAcaagtaatcggtAGATCGAGACCCGACGC chr9:101749753-Reference-C;Patient-100 chr9:101749753-CT DeNovo Patient-100 intronic COL15A1 3.2e-05 0.000193 0.11 4.43 0.53 COL15A1 43757 Reference C ctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgatt ATTCCGATGCTT CGACGCGGTCTCTCTCTctggggagggctggatgcccagacagtggcgtggagtttctgaaacctctCattttggcaactgctgcctcaagtcctattttgggcttttggcgtgattAGAGGGAGACGGACGTCTCAATAAattccgatgcttAGATCGAGACCCGACGC chr9:101749753-Reference-C;Patient-100 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Reference C gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga GGTGCGTCGATT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAggtgcgtcgattAGATCGAGACCCGACGC chr9:101859438-Reference-C;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Reference C gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGAACTATGACG CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcgaactatgacgAGATCGAGACCCGACGC chr9:101859438-Reference-C;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative A gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga ATCTGGTCTTGT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAatctggtcttgtAGATCGAGACCCGACGC chr9:101859438-Alternative-A;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Reference C gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga GTAGATAGTACG CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAgtagatagtacgAGATCGAGACCCGACGC chr9:101859438-Reference-C;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Variant T gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGCCTTAACGAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcgccttaacgatAGATCGAGACCCGACGC chr9:101859438-Variant-T;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Variant T gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGTACTAGGTAC CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcgtactaggtacAGATCGAGACCCGACGC chr9:101859438-Variant-T;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Variant T gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga AACCGTTCTCAA CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAaaccgttctcaaAGATCGAGACCCGACGC chr9:101859438-Variant-T;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative A gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga GGACATGCTCAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAggacatgctcatAGATCGAGACCCGACGC chr9:101859438-Alternative-A;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative A gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga GCATAGACCGAA CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAgcatagaccgaaAGATCGAGACCCGACGC chr9:101859438-Alternative-A;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative A gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga AGTACACAGGAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAagtacacaggatAGATCGAGACCCGACGC chr9:101859438-Alternative-A;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Reference C gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGGAAGCATCGT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcggaagcatcgtAGATCGAGACCCGACGC chr9:101859438-Reference-C;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Variant T gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CTTGCGTACTAA CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAActtgcgtactaaAGATCGAGACCCGACGC chr9:101859438-Variant-T;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative A gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGTGTACTCGTC CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcAggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcgtgtactcgtcAGATCGAGACCCGACGC chr9:101859438-Alternative-A;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative G gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga AGCACGAGCCAA CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAagcacgagccaaAGATCGAGACCCGACGC chr9:101859438-Alternative-G;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative G gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGGCAGGTTCAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcggcaggttcatAGATCGAGACCCGACGC chr9:101859438-Alternative-G;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Variant T gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga AACAAGCTGCGG CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcTggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAaacaagctgcggAGATCGAGACCCGACGC chr9:101859438-Variant-T;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative G gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga ACTTCAGGATCA CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAacttcaggatcaAGATCGAGACCCGACGC chr9:101859438-Alternative-G;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative G gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CTTGCCTATGAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAActtgcctatgatAGATCGAGACCCGACGC chr9:101859438-Alternative-G;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Alternative G gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga CGACAGATTGAT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcGggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAcgacagattgatAGATCGAGACCCGACGC chr9:101859438-Alternative-G;Patient-61 chr9:101859438-CT DeNovo Patient-61 intergenic NA 0.000513 0.26 6.74 3.09 TGFBR1 7973 Reference C gtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggaga AGTTCGAATCGT CGACGCGGTCTCTCTCTgtctgaatcccattttagttctctgatgaggaagggagggtgctgaaggcCggaggatgtgtctccagggaaacaggtaaagcagtggggagttgggagaAGAGGGAGACGGACGTCTCAATAAagttcgaatcgtAGATCGAGACCCGACGC chr9:101859438-Reference-C;Patient-61 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative G agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CGACCAGTGCTA CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAcgaccagtgctaAGATCGAGACCCGACGC chr9:102021430-Alternative-G;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Reference A agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt AGTGACAAGACT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAagtgacaagactAGATCGAGACCCGACGC chr9:102021430-Reference-A;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative G agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GAGTCTAGGTGG CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgagtctaggtggAGATCGAGACCCGACGC chr9:102021430-Alternative-G;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Reference A agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CGAGTACTATGG CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAcgagtactatggAGATCGAGACCCGACGC chr9:102021430-Reference-A;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative G agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CACACTAGACAT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAcacactagacatAGATCGAGACCCGACGC chr9:102021430-Alternative-G;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative G agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CTTATGGCTTGT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAActtatggcttgtAGATCGAGACCCGACGC chr9:102021430-Alternative-G;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative G agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GATACGCGAATT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaGcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgatacgcgaattAGATCGAGACCCGACGC chr9:102021430-Alternative-G;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Variant C agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CTCAACGTACGG CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAActcaacgtacggAGATCGAGACCCGACGC chr9:102021430-Variant-C;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative T agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt ACTTGTACTCGT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAacttgtactcgtAGATCGAGACCCGACGC chr9:102021430-Alternative-T;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative T agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GTTAGGAACGAA CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgttaggaacgaaAGATCGAGACCCGACGC chr9:102021430-Alternative-T;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Reference A agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CATTCAAGCGTT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAcattcaagcgttAGATCGAGACCCGACGC chr9:102021430-Reference-A;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Reference A agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt AGAACCGACTAA CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAagaaccgactaaAGATCGAGACCCGACGC chr9:102021430-Reference-A;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative T agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GGAGGTTGAACC CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAggaggttgaaccAGATCGAGACCCGACGC chr9:102021430-Alternative-T;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative T agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt AGATCAGCAACA CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAagatcagcaacaAGATCGAGACCCGACGC chr9:102021430-Alternative-T;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Alternative T agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GTGTCCATCGTC CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaTcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgtgtccatcgtcAGATCGAGACCCGACGC chr9:102021430-Alternative-T;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Variant C agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt CAGTTACGTCAA CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAcagttacgtcaaAGATCGAGACCCGACGC chr9:102021430-Variant-C;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Variant C agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GACATAAGACGG CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgacataagacggAGATCGAGACCCGACGC chr9:102021430-Variant-C;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Variant C agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GATTAGGTGAGT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgattaggtgagtAGATCGAGACCCGACGC chr9:102021430-Variant-C;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Variant C agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt AGACGCGTCAGT CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaCcttctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAagacgcgtcagtAGATCGAGACCCGACGC chr9:102021430-Variant-C;Patient-54 chr9:102021430-AC Inherited Patient-54 intergenic NA 0.000513 0.17 5.38 1.65 ALG2 37183 Reference A agtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgt GTGAATTAACCG CGACGCGGTCTCTCTCTagtgaaacaactttgctatagaccagctcggaaggataatgaaattctcaActtctgatatggaaaactgttagaaaaatgcagctcctgctccacttgtAGAGGGAGACGGACGTCTCAATAAgtgaattaaccgAGATCGAGACCCGACGC chr9:102021430-Reference-A;Patient-54 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative C agccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg ACCATTGCGTTC CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaccattgcgttcAGATCGAGACCCGACGC chr9:102510088-Alternative-C;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Reference A agccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AGCCGCTAGCTT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAagccgctagcttAGATCGAGACCCGACGC chr9:102510088-Reference-A;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative C agccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AGTCGCGTCAAG CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAagtcgcgtcaagAGATCGAGACCCGACGC chr9:102510088-Alternative-C;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative C agccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AACGCGTCATAT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaacgcgtcatatAGATCGAGACCCGACGC chr9:102510088-Alternative-C;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative T agccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg GGATAATGATCG CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAggataatgatcgAGATCGAGACCCGACGC chr9:102510088-Alternative-T;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative T agccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AGGCGAACGCAT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaggcgaacgcatAGATCGAGACCCGACGC chr9:102510088-Alternative-T;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Variant G agccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg ATCTGCGCATCG CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAatctgcgcatcgAGATCGAGACCCGACGC chr9:102510088-Variant-G;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Reference A agccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AAGCGCCAAGTT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaagcgccaagttAGATCGAGACCCGACGC chr9:102510088-Reference-A;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative T agccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AGTGACAAGCCA CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAagtgacaagccaAGATCGAGACCCGACGC chr9:102510088-Alternative-T;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Variant G agccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg CAGTACGAGTGT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAcagtacgagtgtAGATCGAGACCCGACGC chr9:102510088-Variant-G;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Reference A agccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg GCGTATTCGTCC CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAgcgtattcgtccAGATCGAGACCCGACGC chr9:102510088-Reference-A;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative T agccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg CGCCACCGTTAT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAcgccaccgttatAGATCGAGACCCGACGC chr9:102510088-Alternative-T;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Variant G agccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg ACTTCGCACCTA CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAacttcgcacctaAGATCGAGACCCGACGC chr9:102510088-Variant-G;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Reference A agccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg GGCTGACGAACT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAggctgacgaactAGATCGAGACCCGACGC chr9:102510088-Reference-A;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Variant G agccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg ACCACGATACAC CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaccacgatacacAGATCGAGACCCGACGC chr9:102510088-Variant-G;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Reference A agccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg GGCTGAACGTGA CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactAtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAggctgaacgtgaAGATCGAGACCCGACGC chr9:102510088-Reference-A;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative C agccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg GCAGGACGTAAC CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAgcaggacgtaacAGATCGAGACCCGACGC chr9:102510088-Alternative-C;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative T agccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AGAATGTGCGAT CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactTtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAagaatgtgcgatAGATCGAGACCCGACGC chr9:102510088-Alternative-T;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Variant G agccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg AATCGCGTTCGC CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactGtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAaatcgcgttcgcAGATCGAGACCCGACGC chr9:102510088-Variant-G;Patient-94 chr9:102510088-AG Inherited Patient-94 intergenic NA 0.000513 NA NA NA NR4A3 74048 Alternative C agccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcagg CGAGCAACATAA CGACGCGGTCTCTCTCTagccatgcagtgactttgtagccatcctggcactagaacttcagtctactCtctcttacttggtgtcatttctgctgatttcaacataagcaaatgcaggAGAGGGAGACGGACGTCTCAATAAcgagcaacataaAGATCGAGACCCGACGC chr9:102510088-Alternative-C;Patient-94 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Variant G ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTCTATCTGACT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtctatctgactAGATCGAGACCCGACGC chr9:103086979-Variant-G;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Variant G ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GATCGACACAGG CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgatcgacacaggAGATCGAGACCCGACGC chr9:103086979-Variant-G;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Reference T ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GCGACTACGAGA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgcgactacgagaAGATCGAGACCCGACGC chr9:103086979-Reference-T;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Variant G ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTAGATCACGAC CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtagatcacgacAGATCGAGACCCGACGC chr9:103086979-Variant-G;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Variant G ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GAATCATAGCGA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgaatcatagcgaAGATCGAGACCCGACGC chr9:103086979-Variant-G;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Reference T ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTACGCTTGTGG CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtacgcttgtggAGATCGAGACCCGACGC chr9:103086979-Reference-T;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Variant G ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GCAACTGGTACA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaGgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgcaactggtacaAGATCGAGACCCGACGC chr9:103086979-Variant-G;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Reference T ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc CGGAGTAACATT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAcggagtaacattAGATCGAGACCCGACGC chr9:103086979-Reference-T;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Reference T ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GCATCGCTTGCT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgcatcgcttgctAGATCGAGACCCGACGC chr9:103086979-Reference-T;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Reference T ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTCGATATTCCT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaTgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtcgatattcctAGATCGAGACCCGACGC chr9:103086979-Reference-T;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative C ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc ACAGCGGTGAGT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAacagcggtgagtAGATCGAGACCCGACGC chr9:103086979-Alternative-C;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative A ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc CTATCTGCGTTA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAActatctgcgttaAGATCGAGACCCGACGC chr9:103086979-Alternative-A;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative A ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc CGCTCGTTAGCT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAcgctcgttagctAGATCGAGACCCGACGC chr9:103086979-Alternative-A;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative A ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTACTCAGGTCA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtactcaggtcaAGATCGAGACCCGACGC chr9:103086979-Alternative-A;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative C ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc AATCGGAGTCAA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAaatcggagtcaaAGATCGAGACCCGACGC chr9:103086979-Alternative-C;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative C ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc AGGACGTCCTGA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAaggacgtcctgaAGATCGAGACCCGACGC chr9:103086979-Alternative-C;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative A ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTTATGGTGACA CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgttatggtgacaAGATCGAGACCCGACGC chr9:103086979-Alternative-A;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative C ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTCTCTGAGTGG CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtctctgagtggAGATCGAGACCCGACGC chr9:103086979-Alternative-C;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative A ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc GTCGGAGAGTAC CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaAgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAgtcggagagtacAGATCGAGACCCGACGC chr9:103086979-Alternative-A;Patient-79 chr9:103086979-TG DeNovo Patient-79 intronic TEX10 0.000127 0.000197961 -0.23 0.6 -2.08 TEX10 28279 Alternative C ttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattc CGTACGAAGTAT CGACGCGGTCTCTCTCTttaaaataatccttgacaaaagttattaaacataagtgaacagatgttgaCgaagacattaaatgcatcttccaaggagaatcaatttcaagaaacattcAGAGGGAGACGGACGTCTCAATAAcgtacgaagtatAGATCGAGACCCGACGC chr9:103086979-Alternative-C;Patient-79 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative C cacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatga CGTAGACTGCGA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAcgtagactgcgaAGATCGAGACCCGACGC chr9:104379029-Alternative-C;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative C cacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatga CTCGCATGATAA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAActcgcatgataaAGATCGAGACCCGACGC chr9:104379029-Alternative-C;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative A cacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatga GTGTTGGATGTT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgtgttggatgttAGATCGAGACCCGACGC chr9:104379029-Alternative-A;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative C cacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatga ACAACACGTAGA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAacaacacgtagaAGATCGAGACCCGACGC chr9:104379029-Alternative-C;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Reference G cacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatga ATACGGTCCTAA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAatacggtcctaaAGATCGAGACCCGACGC chr9:104379029-Reference-G;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative C cacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatga ATTGACGCTGCG CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAattgacgctgcgAGATCGAGACCCGACGC chr9:104379029-Alternative-C;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Reference G cacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatga ACATCGGATTGT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAacatcggattgtAGATCGAGACCCGACGC chr9:104379029-Reference-G;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Variant T cacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatga CGAGCATCTGGT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAcgagcatctggtAGATCGAGACCCGACGC chr9:104379029-Variant-T;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative C cacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatga AACGAGGTAACA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtCgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAaacgaggtaacaAGATCGAGACCCGACGC chr9:104379029-Alternative-C;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Reference G cacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatga GTTCCATTATCG CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgttccattatcgAGATCGAGACCCGACGC chr9:104379029-Reference-G;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative A cacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatga AAGATCATCGTC CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAaagatcatcgtcAGATCGAGACCCGACGC chr9:104379029-Alternative-A;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Reference G cacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatga GTCGCAACCTAA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgtcgcaacctaaAGATCGAGACCCGACGC chr9:104379029-Reference-G;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Variant T cacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatga AGTGCTACACAG CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAagtgctacacagAGATCGAGACCCGACGC chr9:104379029-Variant-T;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Variant T cacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatga GTCAAGACGTTA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgtcaagacgttaAGATCGAGACCCGACGC chr9:104379029-Variant-T;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Variant T cacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatga ATCTCGGAATGT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAatctcggaatgtAGATCGAGACCCGACGC chr9:104379029-Variant-T;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Reference G cacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatga GATCAAGCGCAC CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtGgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgatcaagcgcacAGATCGAGACCCGACGC chr9:104379029-Reference-G;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Variant T cacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatga CGTTGTTGCTAA CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtTgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAcgttgttgctaaAGATCGAGACCCGACGC chr9:104379029-Variant-T;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative A cacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatga GCGTGTAACAGG CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgcgtgtaacaggAGATCGAGACCCGACGC chr9:104379029-Alternative-A;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative A cacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatga CGAGGCAGTAGT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAcgaggcagtagtAGATCGAGACCCGACGC chr9:104379029-Alternative-A;Patient-87 chr9:104379029-GT DeNovo Patient-87 intronic GRIN3A NA 4.95e-05 -0.02 2.29 0 PPP3R2 21745 Alternative A cacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatga GTGCGACGCATT CGACGCGGTCTCTCTCTcacatggacacaggaaggggaatatcacactctggggactgtggtggggtAgggggaggggggagggatagcattgggagatatacctaatgctagatgaAGAGGGAGACGGACGTCTCAATAAgtgcgacgcattAGATCGAGACCCGACGC chr9:104379029-Alternative-A;Patient-87 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Reference C catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GAATAATCGGCA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgaataatcggcaAGATCGAGACCCGACGC chr9:104562001-Reference-C;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Reference C catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatcttt ACCAAGACGCGT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAaccaagacgcgtAGATCGAGACCCGACGC chr9:104562001-Reference-C;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Reference C catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatcttt ACCTACGTGCGA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAacctacgtgcgaAGATCGAGACCCGACGC chr9:104562001-Reference-C;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative G catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GCGTAACCTACG CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgcgtaacctacgAGATCGAGACCCGACGC chr9:104562001-Alternative-G;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Reference C catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GGTAGGATGTAA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAggtaggatgtaaAGATCGAGACCCGACGC chr9:104562001-Reference-C;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative G catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GACGTCTTCATT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgacgtcttcattAGATCGAGACCCGACGC chr9:104562001-Alternative-G;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative G catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GCGCGTGTTCAA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgcgcgtgttcaaAGATCGAGACCCGACGC chr9:104562001-Alternative-G;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative G catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatcttt ACGCTCCAATAA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAacgctccaataaAGATCGAGACCCGACGC chr9:104562001-Alternative-G;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative G catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GGTATTGATGAG CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaGcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAggtattgatgagAGATCGAGACCCGACGC chr9:104562001-Alternative-G;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Variant A catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GTGCGATGGCTT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgtgcgatggcttAGATCGAGACCCGACGC chr9:104562001-Variant-A;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative T catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GTATAGCTCGGC CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgtatagctcggcAGATCGAGACCCGACGC chr9:104562001-Alternative-T;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Variant A catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatcttt CGGTCCATTCGT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAcggtccattcgtAGATCGAGACCCGACGC chr9:104562001-Variant-A;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative T catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GATAGCTCGCGT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgatagctcgcgtAGATCGAGACCCGACGC chr9:104562001-Alternative-T;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative T catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatcttt CGATTAGCCGCA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAcgattagccgcaAGATCGAGACCCGACGC chr9:104562001-Alternative-T;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Reference C catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatcttt CGTAGGATATGA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaCcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAcgtaggatatgaAGATCGAGACCCGACGC chr9:104562001-Reference-C;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative T catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatcttt AGGCGACAGATA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAaggcgacagataAGATCGAGACCCGACGC chr9:104562001-Alternative-T;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Alternative T catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GTCGTACAAGTT CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaTcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAgtcgtacaagttAGATCGAGACCCGACGC chr9:104562001-Alternative-T;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Variant A catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatcttt AGTGAACCTGAA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAagtgaacctgaaAGATCGAGACCCGACGC chr9:104562001-Variant-A;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Variant A catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatcttt CTACGCGTGCTA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAActacgcgtgctaAGATCGAGACCCGACGC chr9:104562001-Variant-A;Patient-64 chr9:104562001-CA DeNovo Patient-64 intergenic NA 0.000513 -0.06 1.85 -0.88 GRIN3A 61138 Variant A catgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatcttt GGACATGGATTA CGACGCGGTCTCTCTCTcatgctttgaaaaatggtaatacccagtttgggctagggtgcaattatgaAcattctggaagaaaattttgcaatatttcataggagacttacaatctttAGAGGGAGACGGACGTCTCAATAAggacatggattaAGATCGAGACCCGACGC chr9:104562001-Variant-A;Patient-64 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Reference A gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ACTAGCCGACAG CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAactagccgacagAGATCGAGACCCGACGC chr9:10521389-Reference-A;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative C gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CAGATACCGTCA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAcagataccgtcaAGATCGAGACCCGACGC chr9:10521389-Alternative-C;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative C gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GACGCCGATAAG CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgacgccgataagAGATCGAGACCCGACGC chr9:10521389-Alternative-C;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Reference A gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CGGAATACTAGA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAcggaatactagaAGATCGAGACCCGACGC chr9:10521389-Reference-A;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Reference A gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GTTCGTAAGCGA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgttcgtaagcgaAGATCGAGACCCGACGC chr9:10521389-Reference-A;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative C gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ATAGTTGGCCGG CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAatagttggccggAGATCGAGACCCGACGC chr9:10521389-Alternative-C;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative C gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ACGTGGACGCAA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAacgtggacgcaaAGATCGAGACCCGACGC chr9:10521389-Alternative-C;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative C gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GTGAACCTAGAA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgCggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgtgaacctagaaAGATCGAGACCCGACGC chr9:10521389-Alternative-C;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Variant G gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GGATATTGCCTT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAggatattgccttAGATCGAGACCCGACGC chr9:10521389-Variant-G;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Variant G gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GTTCCGAGTATT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgttccgagtattAGATCGAGACCCGACGC chr9:10521389-Variant-G;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Variant G gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ACGTGGAGTAAT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAacgtggagtaatAGATCGAGACCCGACGC chr9:10521389-Variant-G;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Variant G gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa AGTCGTCAAGAA CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAagtcgtcaagaaAGATCGAGACCCGACGC chr9:10521389-Variant-G;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Variant G gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CGAACTCAACGT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgGggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAcgaactcaacgtAGATCGAGACCCGACGC chr9:10521389-Variant-G;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative T gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CACTATCGCAGT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAcactatcgcagtAGATCGAGACCCGACGC chr9:10521389-Alternative-T;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Reference A gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CAACAGCTTAGT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAcaacagcttagtAGATCGAGACCCGACGC chr9:10521389-Reference-A;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative T gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GTCGCAAGCCTT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgtcgcaagccttAGATCGAGACCCGACGC chr9:10521389-Alternative-T;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Reference A gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa GTCATAGCGACC CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgAggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAgtcatagcgaccAGATCGAGACCCGACGC chr9:10521389-Reference-A;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative T gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ACTTGGTCGGAC CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAacttggtcggacAGATCGAGACCCGACGC chr9:10521389-Alternative-T;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative T gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa ATAGCATCCGTC CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAAatagcatccgtcAGATCGAGACCCGACGC chr9:10521389-Alternative-T;Patient-89 chr9:10521389-AG DeNovo Patient-89 intronic PTPRD NA 0.000159744 0.07 3.72 0.58 PTPRD 91333 Alternative T gtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaa CTAGAACACACT CGACGCGGTCTCTCTCTgtcacgttaaagactgaattggtgaggagttgcttcttgtggatgagccgTggaagtggtttcttgaggtgggatctactcctggtgaagatgtagcgaaAGAGGGAGACGGACGTCTCAATAActagaacacactAGATCGAGACCCGACGC chr9:10521389-Alternative-T;Patient-89 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Variant T aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggt GATGATCGCTTA CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAgatgatcgcttaAGATCGAGACCCGACGC chr9:108324581-Variant-T;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Reference G aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggt CGTGATAGCAGT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcgtgatagcagtAGATCGAGACCCGACGC chr9:108324581-Reference-G;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Reference G aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggt AGACCGGTAAGG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAagaccggtaaggAGATCGAGACCCGACGC chr9:108324581-Reference-G;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Reference G aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggt GTAGCGGATGCT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAgtagcggatgctAGATCGAGACCCGACGC chr9:108324581-Reference-G;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Reference G aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggt CAGGTACAATGA CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcaggtacaatgaAGATCGAGACCCGACGC chr9:108324581-Reference-G;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Variant T aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggt GTTAACAAGACG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAgttaacaagacgAGATCGAGACCCGACGC chr9:108324581-Variant-T;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Variant T aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggt GATACACCGGAG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAgatacaccggagAGATCGAGACCCGACGC chr9:108324581-Variant-T;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Variant T aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggt CACGTAACGAGT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcacgtaacgagtAGATCGAGACCCGACGC chr9:108324581-Variant-T;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Reference G aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggt ACCATTGGTCTT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggGgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAaccattggtcttAGATCGAGACCCGACGC chr9:108324581-Reference-G;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Variant T aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggt ACTGCGATTCGC CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggTgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAactgcgattcgcAGATCGAGACCCGACGC chr9:108324581-Variant-T;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative C aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggt AGCCGACATCAG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAagccgacatcagAGATCGAGACCCGACGC chr9:108324581-Alternative-C;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative A aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggt ACACGACAGATA CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAacacgacagataAGATCGAGACCCGACGC chr9:108324581-Alternative-A;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative A aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggt CGTGGTAGTCGT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcgtggtagtcgtAGATCGAGACCCGACGC chr9:108324581-Alternative-A;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative C aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggt AACCACAATAGG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAaaccacaataggAGATCGAGACCCGACGC chr9:108324581-Alternative-C;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative A aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggt CGCTAGATCAGG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcgctagatcaggAGATCGAGACCCGACGC chr9:108324581-Alternative-A;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative A aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggt AGGTGCGGTACT CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAaggtgcggtactAGATCGAGACCCGACGC chr9:108324581-Alternative-A;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative C aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggt CAGACTTCTATC CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAcagacttctatcAGATCGAGACCCGACGC chr9:108324581-Alternative-C;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative A aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggt ACCGAAGGATGG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggAgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAaccgaaggatggAGATCGAGACCCGACGC chr9:108324581-Alternative-A;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative C aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggt AACCGGTACACG CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAAaaccggtacacgAGATCGAGACCCGACGC chr9:108324581-Alternative-C;Patient-87 chr9:108324581-GT Inherited Patient-87 intronic FKTN 6.4e-05 0.000101 -0.26 0.48 -0.32 FKTN 4169 Alternative C aaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggt CTGTTCGCACCA CGACGCGGTCTCTCTCTaaagacttggtggttagtttttcaaggatagtttttagtttggtggcaggCgactagggaatgagggctgctggttggctggggatgtgatgataagggtAGAGGGAGACGGACGTCTCAATAActgttcgcaccaAGATCGAGACCCGACGC chr9:108324581-Alternative-C;Patient-87 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative A taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CTCATCGACGAA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAActcatcgacgaaAGATCGAGACCCGACGC chr9:109574058-Alternative-A;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative A taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac ATCCTCATACGC CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAatcctcatacgcAGATCGAGACCCGACGC chr9:109574058-Alternative-A;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative A taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CTAAGTGACGTC CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAActaagtgacgtcAGATCGAGACCCGACGC chr9:109574058-Alternative-A;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative A taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GGAACGGAGAGT CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAggaacggagagtAGATCGAGACCCGACGC chr9:109574058-Alternative-A;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Reference C taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CTAAGTAACGCG CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAActaagtaacgcgAGATCGAGACCCGACGC chr9:109574058-Reference-C;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Reference C taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GATAACGTTAGG CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAgataacgttaggAGATCGAGACCCGACGC chr9:109574058-Reference-C;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative A taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CGTGTGTGCTTC CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaAggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAcgtgtgtgcttcAGATCGAGACCCGACGC chr9:109574058-Alternative-A;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Variant T taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CTTGGATGCCGT CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAActtggatgccgtAGATCGAGACCCGACGC chr9:109574058-Variant-T;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Variant T taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GACGCGTCTAGA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAgacgcgtctagaAGATCGAGACCCGACGC chr9:109574058-Variant-T;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Variant T taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CTTAGGTTATGG CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAActtaggttatggAGATCGAGACCCGACGC chr9:109574058-Variant-T;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Variant T taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac AACTTCGATGCA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAaacttcgatgcaAGATCGAGACCCGACGC chr9:109574058-Variant-T;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Variant T taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac AAGGTTCGTTCA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaTggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAaaggttcgttcaAGATCGAGACCCGACGC chr9:109574058-Variant-T;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative G taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GGACGTAATGAT CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAggacgtaatgatAGATCGAGACCCGACGC chr9:109574058-Alternative-G;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative G taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GATGCTTACCGG CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAgatgcttaccggAGATCGAGACCCGACGC chr9:109574058-Alternative-G;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Reference C taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac GTCGTTACGTAA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAgtcgttacgtaaAGATCGAGACCCGACGC chr9:109574058-Reference-C;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Reference C taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CATAACAAGCGA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAcataacaagcgaAGATCGAGACCCGACGC chr9:109574058-Reference-C;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative G taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CAGCGATAGTGT CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAcagcgatagtgtAGATCGAGACCCGACGC chr9:109574058-Alternative-G;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative G taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CAGCTTCGCTGT CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAcagcttcgctgtAGATCGAGACCCGACGC chr9:109574058-Alternative-G;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Alternative G taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac ACTAACGCGTAA CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaGggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAactaacgcgtaaAGATCGAGACCCGACGC chr9:109574058-Alternative-G;Patient-30 chr9:109574058-CT Inherited Patient-30 intergenic 0.000127 0.000513 NA NA NA ZNF462 51319 Reference C taacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagac CGAGACAGTAAG CGACGCGGTCTCTCTCTtaacaccacactgtcaatattagacagacgaacgagacagaaggttaacaCggatattcaggatttgaactcagctctgcaccaagtggatctaaaagacAGAGGGAGACGGACGTCTCAATAAcgagacagtaagAGATCGAGACCCGACGC chr9:109574058-Reference-C;Patient-30 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Reference G gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GATCGACGACGA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgatcgacgacgaAGATCGAGACCCGACGC chr9:109721060-Reference-G;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Reference G gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa AGGAATTGAAGG CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAaggaattgaaggAGATCGAGACCCGACGC chr9:109721060-Reference-G;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Reference G gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa ACGGCGTGTCTA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAacggcgtgtctaAGATCGAGACCCGACGC chr9:109721060-Reference-G;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Reference G gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CAACGCGAGTCA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAcaacgcgagtcaAGATCGAGACCCGACGC chr9:109721060-Reference-G;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Reference G gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GACTGACGCTGA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacGtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgactgacgctgaAGATCGAGACCCGACGC chr9:109721060-Reference-G;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative T gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GCACGGTGTCTA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgcacggtgtctaAGATCGAGACCCGACGC chr9:109721060-Alternative-T;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative T gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa ACGGTCATACAC CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAacggtcatacacAGATCGAGACCCGACGC chr9:109721060-Alternative-T;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative T gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GGATCATCACTA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAggatcatcactaAGATCGAGACCCGACGC chr9:109721060-Alternative-T;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative T gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GATGTCGTATGT CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgatgtcgtatgtAGATCGAGACCCGACGC chr9:109721060-Alternative-T;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Variant A gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GTAACAAGATGC CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgtaacaagatgcAGATCGAGACCCGACGC chr9:109721060-Variant-A;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative C gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CATCCATAGCTT CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAcatccatagcttAGATCGAGACCCGACGC chr9:109721060-Alternative-C;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative T gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CAACGCAGAATA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacTtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAcaacgcagaataAGATCGAGACCCGACGC chr9:109721060-Alternative-T;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Variant A gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CGTCGTAAGGCA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAcgtcgtaaggcaAGATCGAGACCCGACGC chr9:109721060-Variant-A;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Variant A gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa ACTCTGCTTCAA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAactctgcttcaaAGATCGAGACCCGACGC chr9:109721060-Variant-A;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Variant A gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa GTACTCATGAGT CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAgtactcatgagtAGATCGAGACCCGACGC chr9:109721060-Variant-A;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative C gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa AAGCATGCGGCA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAaagcatgcggcaAGATCGAGACCCGACGC chr9:109721060-Alternative-C;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative C gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa ACCTACGCTTCG CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAacctacgcttcgAGATCGAGACCCGACGC chr9:109721060-Alternative-C;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative C gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa AGGAAGACCGAA CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAAaggaagaccgaaAGATCGAGACCCGACGC chr9:109721060-Alternative-C;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Alternative C gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CTGAGATGTAAG CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacCtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAActgagatgtaagAGATCGAGACCCGACGC chr9:109721060-Alternative-C;Patient-55 chr9:109721060-GA Inherited Patient-55 intronic ZNF462 NA 4.95e-05 0.01 2.76 -2.06 ZNF462 95681 Variant A gggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaa CTTATGCAGAGT CGACGCGGTCTCTCTCTgggtagcagggagaaccagacagtcaaccaatacatccactgtagatgacAtggcaagaagtgctatcaagagaaagaaagccatggtgaagggtagaaaAGAGGGAGACGGACGTCTCAATAActtatgcagagtAGATCGAGACCCGACGC chr9:109721060-Variant-A;Patient-55 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative A gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg CAGGAGTACGGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAcaggagtacggtAGATCGAGACCCGACGC chr9:113700968-Alternative-A;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Variant C gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg CACATTGGTTCT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAcacattggttctAGATCGAGACCCGACGC chr9:113700968-Variant-C;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Variant C gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg CTCAACAAGACT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAActcaacaagactAGATCGAGACCCGACGC chr9:113700968-Variant-C;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Variant C gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg ATAAGGCTGTGA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAataaggctgtgaAGATCGAGACCCGACGC chr9:113700968-Variant-C;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative A gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GCGGTAAGGAGA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAgcggtaaggagaAGATCGAGACCCGACGC chr9:113700968-Alternative-A;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Variant C gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg CTGTTAGGTAGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAActgttaggtagtAGATCGAGACCCGACGC chr9:113700968-Variant-C;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative A gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GTATAAGCAGCA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAgtataagcagcaAGATCGAGACCCGACGC chr9:113700968-Alternative-A;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Variant C gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg ACAGCTCACGCA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcCacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAacagctcacgcaAGATCGAGACCCGACGC chr9:113700968-Variant-C;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative A gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg AGTTCGTCGACG CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAagttcgtcgacgAGATCGAGACCCGACGC chr9:113700968-Alternative-A;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Reference T gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg ACTCACGCCTGA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAactcacgcctgaAGATCGAGACCCGACGC chr9:113700968-Reference-T;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative G gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GCGAACGGTATC CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAgcgaacggtatcAGATCGAGACCCGACGC chr9:113700968-Alternative-G;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative A gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg AAGATTAGGCGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcAacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAaagattaggcgtAGATCGAGACCCGACGC chr9:113700968-Alternative-A;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Reference T gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg ATTGCCGGATCG CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAattgccggatcgAGATCGAGACCCGACGC chr9:113700968-Reference-T;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative G gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GAGCTCTAACGA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAgagctctaacgaAGATCGAGACCCGACGC chr9:113700968-Alternative-G;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Reference T gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GCATAATGACCT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAgcataatgacctAGATCGAGACCCGACGC chr9:113700968-Reference-T;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Reference T gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GGATCACGGATT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAggatcacggattAGATCGAGACCCGACGC chr9:113700968-Reference-T;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative G gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg GGCGGACAATGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAggcggacaatgtAGATCGAGACCCGACGC chr9:113700968-Alternative-G;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Reference T gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg AATGATAGCCGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcTacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAaatgatagccgtAGATCGAGACCCGACGC chr9:113700968-Reference-T;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative G gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg CTGTTAGGCCGA CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAActgttaggccgaAGATCGAGACCCGACGC chr9:113700968-Alternative-G;Patient-91 chr9:113700968-TC Inherited Patient-91 intronic LPAR1 NA 9.9e-05 -0.03 2.14 0.23 LPAR1 99396 Alternative G gaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtg ACATCGTCATGT CGACGCGGTCTCTCTCTgaacccagaagctcaagaccagcctgggcaacatgacaaaaccccatctcGacaaaaaaaaaagaaaaaagaaaaaaaaaaatctgggtagctgggtgtgAGAGGGAGACGGACGTCTCAATAAacatcgtcatgtAGATCGAGACCCGACGC chr9:113700968-Alternative-G;Patient-91 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Variant C gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ACGTGATCGGAC CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAacgtgatcggacAGATCGAGACCCGACGC chr9:113747687-Variant-C;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Reference T gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt GGCGATATTCGC CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAggcgatattcgcAGATCGAGACCCGACGC chr9:113747687-Reference-T;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Variant C gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ATTGAATCGTCG CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAattgaatcgtcgAGATCGAGACCCGACGC chr9:113747687-Variant-C;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative A gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ATAGATACGGCA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAatagatacggcaAGATCGAGACCCGACGC chr9:113747687-Alternative-A;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Variant C gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt GGTCTGCTTGTC CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAggtctgcttgtcAGATCGAGACCCGACGC chr9:113747687-Variant-C;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative A gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ACCGCACTGAGA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAaccgcactgagaAGATCGAGACCCGACGC chr9:113747687-Alternative-A;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative A gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ATTCAACTAGCG CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAattcaactagcgAGATCGAGACCCGACGC chr9:113747687-Alternative-A;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative A gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt GTCAGCTTCGCT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAgtcagcttcgctAGATCGAGACCCGACGC chr9:113747687-Alternative-A;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative A gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt AGACCTTAGGTT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaAtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAagaccttaggttAGATCGAGACCCGACGC chr9:113747687-Alternative-A;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Reference T gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt CGCGTGGAATGA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAcgcgtggaatgaAGATCGAGACCCGACGC chr9:113747687-Reference-T;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Reference T gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt GAGACTGACGCT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAgagactgacgctAGATCGAGACCCGACGC chr9:113747687-Reference-T;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Reference T gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt GCGTAACCAATA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAgcgtaaccaataAGATCGAGACCCGACGC chr9:113747687-Reference-T;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Reference T gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt CATGAATCGCTA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaTtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAcatgaatcgctaAGATCGAGACCCGACGC chr9:113747687-Reference-T;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Variant C gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt AATATACCGTCG CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAaatataccgtcgAGATCGAGACCCGACGC chr9:113747687-Variant-C;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative G gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt AGGCTGCGTCTA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAaggctgcgtctaAGATCGAGACCCGACGC chr9:113747687-Alternative-G;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Variant C gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt AGAATTGCAGCA CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaCtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAagaattgcagcaAGATCGAGACCCGACGC chr9:113747687-Variant-C;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative G gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt ATTCCAATGCGT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAattccaatgcgtAGATCGAGACCCGACGC chr9:113747687-Alternative-G;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative G gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt CTTAGTGCCGTC CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAActtagtgccgtcAGATCGAGACCCGACGC chr9:113747687-Alternative-G;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative G gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt AGCCACGTACCT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAagccacgtacctAGATCGAGACCCGACGC chr9:113747687-Alternative-G;Patient-82 chr9:113747687-TC DeNovo Patient-82 intronic LPAR1 NA 0.000159744 0.13 4.79 -2.37 LPAR1 52677 Alternative G gtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcatt CACGAGCGTATT CGACGCGGTCTCTCTCTgtcttttcatttgcttctccagcttttcaattagatcttttattttcaaaGtggtctaaaagtctatcattttttctacagggcacagagctaacgcattAGAGGGAGACGGACGTCTCAATAAcacgagcgtattAGATCGAGACCCGACGC chr9:113747687-Alternative-G;Patient-82 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Variant A ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GAATGGATACAC CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgaatggatacacAGATCGAGACCCGACGC chr9:113844481-Variant-A;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative T ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat AGCGTACATCTT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAagcgtacatcttAGATCGAGACCCGACGC chr9:113844481-Alternative-T;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative T ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat CGGATTAAGTCT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAcggattaagtctAGATCGAGACCCGACGC chr9:113844481-Alternative-T;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative G ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GCAGGATATCGG CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgcaggatatcggAGATCGAGACCCGACGC chr9:113844481-Alternative-G;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Variant A ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GCGGCAACGAAT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgcggcaacgaatAGATCGAGACCCGACGC chr9:113844481-Variant-A;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Variant A ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GTGAGGTTCGCT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgtgaggttcgctAGATCGAGACCCGACGC chr9:113844481-Variant-A;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Variant A ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat AGCCGATGTGGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAagccgatgtggtAGATCGAGACCCGACGC chr9:113844481-Variant-A;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative G ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat CATCGGTTGCGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAcatcggttgcgtAGATCGAGACCCGACGC chr9:113844481-Alternative-G;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative G ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat AACGCAATGCGC CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAaacgcaatgcgcAGATCGAGACCCGACGC chr9:113844481-Alternative-G;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative T ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GCGTACGAGAAG CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgcgtacgagaagAGATCGAGACCCGACGC chr9:113844481-Alternative-T;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative G ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat CTTATACGGTTC CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAActtatacggttcAGATCGAGACCCGACGC chr9:113844481-Alternative-G;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Reference C ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GCGCACCATGAA CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgcgcaccatgaaAGATCGAGACCCGACGC chr9:113844481-Reference-C;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative G ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GATAGCGAGCGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaGtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgatagcgagcgtAGATCGAGACCCGACGC chr9:113844481-Alternative-G;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative T ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat CGGAGCTAGCTA CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAcggagctagctaAGATCGAGACCCGACGC chr9:113844481-Alternative-T;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Alternative T ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat ACTTCGACTATC CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaTtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAacttcgactatcAGATCGAGACCCGACGC chr9:113844481-Alternative-T;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Variant A ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat ACTCAACCAGGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaAtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAactcaaccaggtAGATCGAGACCCGACGC chr9:113844481-Variant-A;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Reference C ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat AACGTCGATGTT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAaacgtcgatgttAGATCGAGACCCGACGC chr9:113844481-Reference-C;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Reference C ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GTACTAAGTCGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAgtactaagtcgtAGATCGAGACCCGACGC chr9:113844481-Reference-C;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Reference C ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat AGCTTGCGACGT CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAagcttgcgacgtAGATCGAGACCCGACGC chr9:113844481-Reference-C;Patient-22 chr9:113844481-CA DeNovo Patient-22 intergenic NA 0.000513 -0.17 0.9 -1.16 LPAR1 44115 Reference C ggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataat GGTGTAAGTGCG CGACGCGGTCTCTCTCTggtgcgtgttaaggaggccgggaaaaaggacatggcagagataagagttaCtgccctagctccaaggcaccaaaattcttcacagaattaagaaaataatAGAGGGAGACGGACGTCTCAATAAggtgtaagtgcgAGATCGAGACCCGACGC chr9:113844481-Reference-C;Patient-22 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative G ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CGCTGGTTCTGA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAcgctggttctgaAGATCGAGACCCGACGC chr9:114343551-Alternative-G;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative G ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac GTTGTGCCAGAA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAgttgtgccagaaAGATCGAGACCCGACGC chr9:114343551-Alternative-G;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative G ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTATCAGCGGCA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActatcagcggcaAGATCGAGACCCGACGC chr9:114343551-Alternative-G;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative G ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTCGTGCTCAGT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActcgtgctcagtAGATCGAGACCCGACGC chr9:114343551-Alternative-G;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative G ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac GTTGTTGGTGCG CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaGagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAgttgttggtgcgAGATCGAGACCCGACGC chr9:114343551-Alternative-G;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Variant C ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTCTTCGCGGTT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActcttcgcggttAGATCGAGACCCGACGC chr9:114343551-Variant-C;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Reference T ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ATAGTACTACGC CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAatagtactacgcAGATCGAGACCCGACGC chr9:114343551-Reference-T;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative A ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ACACCGATACAC CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAacaccgatacacAGATCGAGACCCGACGC chr9:114343551-Alternative-A;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Reference T ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CATCATCTTCGA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAcatcatcttcgaAGATCGAGACCCGACGC chr9:114343551-Reference-T;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative A ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CATCTGGTTCAT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAcatctggttcatAGATCGAGACCCGACGC chr9:114343551-Alternative-A;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Reference T ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTAGCGGTGTGA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActagcggtgtgaAGATCGAGACCCGACGC chr9:114343551-Reference-T;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Variant C ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ACGTTATGGTGG CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAacgttatggtggAGATCGAGACCCGACGC chr9:114343551-Variant-C;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Variant C ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ACGATGCGGTGT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAacgatgcggtgtAGATCGAGACCCGACGC chr9:114343551-Variant-C;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Reference T ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ACTGAATCACCA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAactgaatcaccaAGATCGAGACCCGACGC chr9:114343551-Reference-T;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative A ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac AATATGCCGCTT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAaatatgccgcttAGATCGAGACCCGACGC chr9:114343551-Alternative-A;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative A ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTACGTCGGTCT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActacgtcggtctAGATCGAGACCCGACGC chr9:114343551-Alternative-A;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Alternative A ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CGGACTCTGAGA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaAagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAcggactctgagaAGATCGAGACCCGACGC chr9:114343551-Alternative-A;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Reference T ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac CTCGTGTAAGCA CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaTagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAActcgtgtaagcaAGATCGAGACCCGACGC chr9:114343551-Reference-T;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Variant C ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac GGTTCGTATGTT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAggttcgtatgttAGATCGAGACCCGACGC chr9:114343551-Variant-C;Patient-87 chr9:114343551-TC Inherited Patient-87 intronic PTGR1 NA 4.95e-05 0.08 3.97 0.52 PTGR1 18583 Variant C ggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaac ATTCCGTAGAGT CGACGCGGTCTCTCTCTggaaaaagtacaaaagatgtaattatgagagcaaagagagcatacaagaaCagtcctaagggaaacagaatgaacatataccattcctcatgaagaaaacAGAGGGAGACGGACGTCTCAATAAattccgtagagtAGATCGAGACCCGACGC chr9:114343551-Variant-C;Patient-87 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Variant G tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CATCAGACGCGT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcatcagacgcgtAGATCGAGACCCGACGC chr9:115874968-Variant-G;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Variant G tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CGTGGTGTAGTC CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcgtggtgtagtcAGATCGAGACCCGACGC chr9:115874968-Variant-G;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Variant G tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg ATCATGTGGTAC CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAatcatgtggtacAGATCGAGACCCGACGC chr9:115874968-Variant-G;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative T tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg AACACAACCAAG CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAaacacaaccaagAGATCGAGACCCGACGC chr9:115874968-Alternative-T;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative T tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg AAGGTTCAGCTT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAaaggttcagcttAGATCGAGACCCGACGC chr9:115874968-Alternative-T;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Variant G tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GAAGTGAACTGA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAgaagtgaactgaAGATCGAGACCCGACGC chr9:115874968-Variant-G;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Variant G tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CATTCTTAGCGT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgGccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcattcttagcgtAGATCGAGACCCGACGC chr9:115874968-Variant-G;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative T tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GGCGGTTGTAGA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAggcggttgtagaAGATCGAGACCCGACGC chr9:115874968-Alternative-T;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative C tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg AGAGCATGTCAA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAagagcatgtcaaAGATCGAGACCCGACGC chr9:115874968-Alternative-C;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative T tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg ACGATTCTACGA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAacgattctacgaAGATCGAGACCCGACGC chr9:115874968-Alternative-T;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative C tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GTACGTTCCAAC CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAgtacgttccaacAGATCGAGACCCGACGC chr9:115874968-Alternative-C;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative T tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GGACATATGGAT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgTccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAggacatatggatAGATCGAGACCCGACGC chr9:115874968-Alternative-T;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative C tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CTCGGAGTGGAA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAActcggagtggaaAGATCGAGACCCGACGC chr9:115874968-Alternative-C;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Reference A tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CAACGCTTACCT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcaacgcttacctAGATCGAGACCCGACGC chr9:115874968-Reference-A;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative C tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GATAACAGACAC CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAgataacagacacAGATCGAGACCCGACGC chr9:115874968-Alternative-C;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Reference A tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GAGATCCTCATA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAgagatcctcataAGATCGAGACCCGACGC chr9:115874968-Reference-A;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Reference A tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GGTTGCGAATAT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAggttgcgaatatAGATCGAGACCCGACGC chr9:115874968-Reference-A;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Reference A tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg GGTCACGATGCT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAggtcacgatgctAGATCGAGACCCGACGC chr9:115874968-Reference-A;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Reference A tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CGTGTCGTCACT CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgAccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcgtgtcgtcactAGATCGAGACCCGACGC chr9:115874968-Reference-A;Patient-72 chr9:115874968-AG DeNovo Patient-72 intergenic 0.000573 0.00144 0.09 4.14 -0.14 SLC31A2 38269 Alternative C tcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttggg CACGACGGTTCA CGACGCGGTCTCTCTCTtcagaatggtattttgttaaaactggtaggtattataaaaataaacagtgCccagtagcttgattgtattacaaatttttctttcatgtaagaggttgggAGAGGGAGACGGACGTCTCAATAAcacgacggttcaAGATCGAGACCCGACGC chr9:115874968-Alternative-C;Patient-72 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative G cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc AGAGCATATCAG CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAagagcatatcagAGATCGAGACCCGACGC chr9:116139378-Alternative-G;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative G cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc AATACCGGTAAG CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAaataccggtaagAGATCGAGACCCGACGC chr9:116139378-Alternative-G;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative G cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc ATCTCCGCGTAC CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAatctccgcgtacAGATCGAGACCCGACGC chr9:116139378-Alternative-G;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Variant T cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc GCGTATAACGCG CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAgcgtataacgcgAGATCGAGACCCGACGC chr9:116139378-Variant-T;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Variant T cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc GGACCTCCTGTT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAggacctcctgttAGATCGAGACCCGACGC chr9:116139378-Variant-T;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative G cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc GAAGTTGTTCGT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAgaagttgttcgtAGATCGAGACCCGACGC chr9:116139378-Alternative-G;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Variant T cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc AGAACGGTCGTC CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAagaacggtcgtcAGATCGAGACCCGACGC chr9:116139378-Variant-T;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Variant T cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc ATCGTTCCGTCG CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAatcgttccgtcgAGATCGAGACCCGACGC chr9:116139378-Variant-T;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Variant T cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc ATACTTGCGCTT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctTtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAatacttgcgcttAGATCGAGACCCGACGC chr9:116139378-Variant-T;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative G cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc CTTAGCCTATGA CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctGtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAActtagcctatgaAGATCGAGACCCGACGC chr9:116139378-Alternative-G;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Reference C cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc AAGTGAATGACC CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAaagtgaatgaccAGATCGAGACCCGACGC chr9:116139378-Reference-C;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Reference C cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc ACACCGGAGTCA CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAacaccggagtcaAGATCGAGACCCGACGC chr9:116139378-Reference-C;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative A cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc AGCGTAAGTTCT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAagcgtaagttctAGATCGAGACCCGACGC chr9:116139378-Alternative-A;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Reference C cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc GATGGTTGACTT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAgatggttgacttAGATCGAGACCCGACGC chr9:116139378-Reference-C;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Reference C cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc ACTCAACGCTTC CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAactcaacgcttcAGATCGAGACCCGACGC chr9:116139378-Reference-C;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative A cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc CGAATTGCACAG CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAcgaattgcacagAGATCGAGACCCGACGC chr9:116139378-Alternative-A;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative A cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc CGTACTTGCGGT CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAcgtacttgcggtAGATCGAGACCCGACGC chr9:116139378-Alternative-A;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative A cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc CTATGGATACCA CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAActatggataccaAGATCGAGACCCGACGC chr9:116139378-Alternative-A;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Alternative A cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc GCGTCCACAACA CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctAtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAgcgtccacaacaAGATCGAGACCCGACGC chr9:116139378-Alternative-A;Patient-22 chr9:116139378-CT Inherited Patient-22 intergenic 0.000229 0.001025641 0.28 6.99 0.17 ALAD 24239 Reference C cgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtc CGGTGCGTATGA CGACGCGGTCTCTCTCTcgcctctgtccccgccccgtccccgcccttatccccctcaccttcgccctCtcccgccccatctcccgtcgccctcgccgtcccctctccctccttcgtcAGAGGGAGACGGACGTCTCAATAAcggtgcgtatgaAGATCGAGACCCGACGC chr9:116139378-Reference-C;Patient-22 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Reference C attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CATCATCCGCGT CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcatcatccgcgtAGATCGAGACCCGACGC chr9:116249712-Reference-C;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Reference C attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ATAAGGAACGTC CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAataaggaacgtcAGATCGAGACCCGACGC chr9:116249712-Reference-C;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Reference C attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CAGATCGCTGAA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcagatcgctgaaAGATCGAGACCCGACGC chr9:116249712-Reference-C;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Reference C attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact AGCGGTAAGGCA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAagcggtaaggcaAGATCGAGACCCGACGC chr9:116249712-Reference-C;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Reference C attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ACCAATAGAGCA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaCagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAaccaatagagcaAGATCGAGACCCGACGC chr9:116249712-Reference-C;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative A attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact GACAACGGAATT CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAgacaacggaattAGATCGAGACCCGACGC chr9:116249712-Alternative-A;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative A attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact AACGACTGTGCG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAaacgactgtgcgAGATCGAGACCCGACGC chr9:116249712-Alternative-A;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative A attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact GATAGGTGCGCA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAgataggtgcgcaAGATCGAGACCCGACGC chr9:116249712-Alternative-A;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative A attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ATCATCGTATGG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAatcatcgtatggAGATCGAGACCCGACGC chr9:116249712-Alternative-A;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative A attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CGTATCACGCGT CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaAagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcgtatcacgcgtAGATCGAGACCCGACGC chr9:116249712-Alternative-A;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Variant T attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ACGTGTAGTAGA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAacgtgtagtagaAGATCGAGACCCGACGC chr9:116249712-Variant-T;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Variant T attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact GCCGTGTAACAC CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAgccgtgtaacacAGATCGAGACCCGACGC chr9:116249712-Variant-T;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Variant T attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact GAGTGTGACGCA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAgagtgtgacgcaAGATCGAGACCCGACGC chr9:116249712-Variant-T;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Variant T attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CATATGCCGACG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcatatgccgacgAGATCGAGACCCGACGC chr9:116249712-Variant-T;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Variant T attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ACGTCTAGCGAC CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaTagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAacgtctagcgacAGATCGAGACCCGACGC chr9:116249712-Variant-T;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative G attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact AGGTGTTGGTGG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAaggtgttggtggAGATCGAGACCCGACGC chr9:116249712-Alternative-G;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative G attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact AAGGTGATACCA CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAaaggtgataccaAGATCGAGACCCGACGC chr9:116249712-Alternative-G;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative G attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CGACTTCTGTGC CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcgacttctgtgcAGATCGAGACCCGACGC chr9:116249712-Alternative-G;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative G attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact CGTTACTGGTCG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAcgttactggtcgAGATCGAGACCCGACGC chr9:116249712-Alternative-G;Patient-30 chr9:116249712-CT Inherited Patient-30 intronic RGS3 NA 4.95e-05 NA NA NA RGS3 42702 Alternative G attacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaact ACGATTATGGAG CGACGCGGTCTCTCTCTattacaggcgtgagccaccgcgcccggcctgtctcatttaattcttacaaGagctctaagaagagtgtggttttgtcctaagttttcagaagaggaaactAGAGGGAGACGGACGTCTCAATAAacgattatggagAGATCGAGACCCGACGC chr9:116249712-Alternative-G;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative G ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GCCACTCTAATT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgccactctaattAGATCGAGACCCGACGC chr9:116257917-Alternative-G;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Variant T ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGCAACGAAGAT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgcaacgaagatAGATCGAGACCCGACGC chr9:116257917-Variant-T;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative G ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GTAAGGCTCGCT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgtaaggctcgctAGATCGAGACCCGACGC chr9:116257917-Alternative-G;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Variant T ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GTTCTGCATTCA CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgttctgcattcaAGATCGAGACCCGACGC chr9:116257917-Variant-T;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Reference C ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GATCGAGTCGTC CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgatcgagtcgtcAGATCGAGACCCGACGC chr9:116257917-Reference-C;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Reference C ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa AAGTCATTCGAG CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAaagtcattcgagAGATCGAGACCCGACGC chr9:116257917-Reference-C;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Variant T ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGTCCAATTCGC CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgtccaattcgcAGATCGAGACCCGACGC chr9:116257917-Variant-T;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Reference C ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGATCTGTTCAT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgatctgttcatAGATCGAGACCCGACGC chr9:116257917-Reference-C;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Reference C ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGGACAGATCCA CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcggacagatccaAGATCGAGACCCGACGC chr9:116257917-Reference-C;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Reference C ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGCATCGGTGAT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctCacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgcatcggtgatAGATCGAGACCCGACGC chr9:116257917-Reference-C;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative A ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GATAAGTCCGAA CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgataagtccgaaAGATCGAGACCCGACGC chr9:116257917-Alternative-A;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Variant T ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGCCATCACAAT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgccatcacaatAGATCGAGACCCGACGC chr9:116257917-Variant-T;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative A ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGTGAGAATCGC CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgtgagaatcgcAGATCGAGACCCGACGC chr9:116257917-Alternative-A;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative A ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CTTATCGCCGAC CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAActtatcgccgacAGATCGAGACCCGACGC chr9:116257917-Alternative-A;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Variant T ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa CGTCGGTTAACG CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctTacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAcgtcggttaacgAGATCGAGACCCGACGC chr9:116257917-Variant-T;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative A ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GTAGATGCAAGT CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgtagatgcaagtAGATCGAGACCCGACGC chr9:116257917-Alternative-A;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative A ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GAATCGACGTGG CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctAacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgaatcgacgtggAGATCGAGACCCGACGC chr9:116257917-Alternative-A;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative G ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GATACGGTGATA CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAgatacggtgataAGATCGAGACCCGACGC chr9:116257917-Alternative-G;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative G ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa AATCTCAGCTGA CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAaatctcagctgaAGATCGAGACCCGACGC chr9:116257917-Alternative-G;Patient-30 chr9:116257917-CT Inherited Patient-30 intronic RGS3 0.00051 0.000297 NA NA NA RGS3 50907 Alternative G ccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaa GGCGTCAGTATC CGACGCGGTCTCTCTCTccatttttccctctgtaaaatggagataatagctcctctctatcctgcctGacagagtcagaaggatcaaacgagatgatgtgggtaaaaagctttgtaaAGAGGGAGACGGACGTCTCAATAAggcgtcagtatcAGATCGAGACCCGACGC chr9:116257917-Alternative-G;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative G ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CTAACTAGCTGA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAActaactagctgaAGATCGAGACCCGACGC chr9:116265675-Alternative-G;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative G ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc ATTCGTATGACG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAattcgtatgacgAGATCGAGACCCGACGC chr9:116265675-Alternative-G;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative C ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc ACACGGCGTAGA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAacacggcgtagaAGATCGAGACCCGACGC chr9:116265675-Alternative-C;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative C ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GCCGGTATATAA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgccggtatataaAGATCGAGACCCGACGC chr9:116265675-Alternative-C;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative C ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GTGAACCTGTTA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgtgaacctgttaAGATCGAGACCCGACGC chr9:116265675-Alternative-C;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Variant A ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CGTGGAACACAG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAcgtggaacacagAGATCGAGACCCGACGC chr9:116265675-Variant-A;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Variant A ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc ACACCGATGCAG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAacaccgatgcagAGATCGAGACCCGACGC chr9:116265675-Variant-A;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Variant A ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GGCTTACCTCGT CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAggcttacctcgtAGATCGAGACCCGACGC chr9:116265675-Variant-A;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Reference T ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CGAACACGGCAT CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAcgaacacggcatAGATCGAGACCCGACGC chr9:116265675-Reference-T;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Reference T ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GACCTCATCACG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgacctcatcacgAGATCGAGACCCGACGC chr9:116265675-Reference-T;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Variant A ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GTGCTATCGTAA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgtgctatcgtaaAGATCGAGACCCGACGC chr9:116265675-Variant-A;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative G ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CATTCTATTCGG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAcattctattcggAGATCGAGACCCGACGC chr9:116265675-Alternative-G;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Variant A ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CAGACTACGAAC CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcAtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAcagactacgaacAGATCGAGACCCGACGC chr9:116265675-Variant-A;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative G ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc AATGCCAACCTA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAaatgccaacctaAGATCGAGACCCGACGC chr9:116265675-Alternative-G;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative C ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc ACTCGTCAGTAA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAactcgtcagtaaAGATCGAGACCCGACGC chr9:116265675-Alternative-C;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative C ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GGATGTGCTTCG CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcCtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAggatgtgcttcgAGATCGAGACCCGACGC chr9:116265675-Alternative-C;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Reference T ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GTAGGTACACTT CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgtaggtacacttAGATCGAGACCCGACGC chr9:116265675-Reference-T;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Reference T ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GTCTCGGCAGAT CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgtctcggcagatAGATCGAGACCCGACGC chr9:116265675-Reference-T;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Reference T ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc GATGTGCATTGT CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcTtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAAgatgtgcattgtAGATCGAGACCCGACGC chr9:116265675-Reference-T;Patient-30 chr9:116265675-TA Inherited Patient-30 intronic RGS3 0.000924 4.95e-05 NA NA NA RGS3 58665 Alternative G ctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttcc CTCGTTCTGTAA CGACGCGGTCTCTCTCTctaccctctcaatgtggtcagtgatcatggtggacagagtgtaattctgcGtcctccgagctaggaggtgagcttgcctcccggcaccctctcctcttccAGAGGGAGACGGACGTCTCAATAActcgttctgtaaAGATCGAGACCCGACGC chr9:116265675-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Variant T gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GTGGCAGCATGA CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgtggcagcatgaAGATCGAGACCCGACGC chr9:116276333-Variant-T;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Variant T gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg AGCAGACTTCAT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAagcagacttcatAGATCGAGACCCGACGC chr9:116276333-Variant-T;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Variant T gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg CTACGTAAGCGG CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAActacgtaagcggAGATCGAGACCCGACGC chr9:116276333-Variant-T;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative G gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg ACATCGACACGT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAacatcgacacgtAGATCGAGACCCGACGC chr9:116276333-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative A gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GTCGTTCTTGAT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgtcgttcttgatAGATCGAGACCCGACGC chr9:116276333-Alternative-A;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative A gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg AGCTATCTCACG CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAagctatctcacgAGATCGAGACCCGACGC chr9:116276333-Alternative-A;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative A gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg CTTATACTGCGT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAActtatactgcgtAGATCGAGACCCGACGC chr9:116276333-Alternative-A;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative A gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GCGAGCGTACAT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgcgagcgtacatAGATCGAGACCCGACGC chr9:116276333-Alternative-A;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative A gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg AATAGACGTCCT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaAgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAaatagacgtcctAGATCGAGACCCGACGC chr9:116276333-Alternative-A;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Variant T gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg AGCCGGTGACTA CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAagccggtgactaAGATCGAGACCCGACGC chr9:116276333-Variant-T;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Variant T gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GTTCGTATCGGC CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaTgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgttcgtatcggcAGATCGAGACCCGACGC chr9:116276333-Variant-T;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative G gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GCAACATCGTTC CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgcaacatcgttcAGATCGAGACCCGACGC chr9:116276333-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative G gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg ACGTACAGACGC CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAacgtacagacgcAGATCGAGACCCGACGC chr9:116276333-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative G gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GCATACTGGATT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgcatactggattAGATCGAGACCCGACGC chr9:116276333-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Alternative G gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GCGTATCGTAAT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaGgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgcgtatcgtaatAGATCGAGACCCGACGC chr9:116276333-Alternative-G;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Reference C gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GCCAATGGAATT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAgccaatggaattAGATCGAGACCCGACGC chr9:116276333-Reference-C;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Reference C gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg CTCTAAGTCAGT CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAActctaagtcagtAGATCGAGACCCGACGC chr9:116276333-Reference-C;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Reference C gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg GGATCGAGAATA CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAggatcgagaataAGATCGAGACCCGACGC chr9:116276333-Reference-C;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Reference C gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg CGAAGTTAGGCG CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAcgaagttaggcgAGATCGAGACCCGACGC chr9:116276333-Reference-C;Patient-30 chr9:116276333-CT Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 69323 Reference C gtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatg ACCTTAGCCACG CGACGCGGTCTCTCTCTgtaccctgccacacaggctggtcaccactctgctccaactgattgttccaCgtgggactgtgggctcagtgaggacagatcttctgatttttcaaatatgAGAGGGAGACGGACGTCTCAATAAaccttagccacgAGATCGAGACCCGACGC chr9:116276333-Reference-C;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Reference C gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ATCGCTCGTAAC CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAatcgctcgtaacAGATCGAGACCCGACGC chr9:116305978-Reference-C;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Reference C gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ATCTCGAATCGT CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAatctcgaatcgtAGATCGAGACCCGACGC chr9:116305978-Reference-C;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative T gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct AACTCGTGCGAC CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAaactcgtgcgacAGATCGAGACCCGACGC chr9:116305978-Alternative-T;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative T gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct CAATAGTGCCGG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAcaatagtgccggAGATCGAGACCCGACGC chr9:116305978-Alternative-T;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative T gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GTATTGCGACCG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAgtattgcgaccgAGATCGAGACCCGACGC chr9:116305978-Alternative-T;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative G gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GCGAGCGGTTAT CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAgcgagcggttatAGATCGAGACCCGACGC chr9:116305978-Alternative-G;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative G gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct AGATAATGACCG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAagataatgaccgAGATCGAGACCCGACGC chr9:116305978-Alternative-G;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative G gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ATTGGCTGTGCG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAattggctgtgcgAGATCGAGACCCGACGC chr9:116305978-Alternative-G;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative G gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GGCTTGTCATTA CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAggcttgtcattaAGATCGAGACCCGACGC chr9:116305978-Alternative-G;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative G gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GCGTAGCACAAC CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacGagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAgcgtagcacaacAGATCGAGACCCGACGC chr9:116305978-Alternative-G;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Reference C gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GGAATGGCATCG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAggaatggcatcgAGATCGAGACCCGACGC chr9:116305978-Reference-C;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Variant A gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GATCCGGATAGA CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAgatccggatagaAGATCGAGACCCGACGC chr9:116305978-Variant-A;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Variant A gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GACTAATGGCCG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAgactaatggccgAGATCGAGACCCGACGC chr9:116305978-Variant-A;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Variant A gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ACGACAACGTGG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAacgacaacgtggAGATCGAGACCCGACGC chr9:116305978-Variant-A;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Reference C gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct CAATGCGAACTT CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAcaatgcgaacttAGATCGAGACCCGACGC chr9:116305978-Reference-C;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Variant A gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct CGCGATTACAAC CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAcgcgattacaacAGATCGAGACCCGACGC chr9:116305978-Variant-A;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Variant A gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct CTTACCGACATT CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacAagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAActtaccgacattAGATCGAGACCCGACGC chr9:116305978-Variant-A;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative T gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ACTCCTAGCGAG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAactcctagcgagAGATCGAGACCCGACGC chr9:116305978-Alternative-T;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Alternative T gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct ACGTTACCGGAG CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacTagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAacgttaccggagAGATCGAGACCCGACGC chr9:116305978-Alternative-T;Patient-30 chr9:116305978-CA Inherited Patient-30 intronic RGS3 0.000955 4.95e-05 NA NA NA RGS3 98968 Reference C gaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtct GGTACGAGAATA CGACGCGGTCTCTCTCTgaaggcagcaagctcatctctcctggacctggtgacctacctctgtctacCagacaggtgcagaggacaggagctctggccacaaagaaatggacagtctAGAGGGAGACGGACGTCTCAATAAggtacgagaataAGATCGAGACCCGACGC chr9:116305978-Reference-C;Patient-30 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative G ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CGTCAAGTAAGA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAcgtcaagtaagaAGATCGAGACCCGACGC chr9:117828395-Alternative-G;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative G ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CTAGATAGCGGC CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAActagatagcggcAGATCGAGACCCGACGC chr9:117828395-Alternative-G;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative C ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CATTAGCGGATA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAcattagcggataAGATCGAGACCCGACGC chr9:117828395-Alternative-C;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Variant A ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt AGAGGTTCGCTA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAagaggttcgctaAGATCGAGACCCGACGC chr9:117828395-Variant-A;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Variant A ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt ACCATTGATCGA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAaccattgatcgaAGATCGAGACCCGACGC chr9:117828395-Variant-A;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative C ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GTACCGTTGCGA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAgtaccgttgcgaAGATCGAGACCCGACGC chr9:117828395-Alternative-C;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative C ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt AGAGCATAACAC CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAagagcataacacAGATCGAGACCCGACGC chr9:117828395-Alternative-C;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Variant A ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GGAGACTGTCCT CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAggagactgtcctAGATCGAGACCCGACGC chr9:117828395-Variant-A;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Variant A ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CAACTCTACGGC CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAcaactctacggcAGATCGAGACCCGACGC chr9:117828395-Variant-A;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Variant A ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt ACGTGTTCGCAG CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaAagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAacgtgttcgcagAGATCGAGACCCGACGC chr9:117828395-Variant-A;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Reference T ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GGCGAACACGAA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAggcgaacacgaaAGATCGAGACCCGACGC chr9:117828395-Reference-T;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Reference T ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GTTATCATGTGG CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAgttatcatgtggAGATCGAGACCCGACGC chr9:117828395-Reference-T;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative G ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GGTCAGGCCTTA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAggtcaggccttaAGATCGAGACCCGACGC chr9:117828395-Alternative-G;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative C ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CGAGTATGCATC CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAcgagtatgcatcAGATCGAGACCCGACGC chr9:117828395-Alternative-C;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Reference T ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GTAATGCGATCA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAgtaatgcgatcaAGATCGAGACCCGACGC chr9:117828395-Reference-T;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Reference T ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GTAGGACTCTAT CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAgtaggactctatAGATCGAGACCCGACGC chr9:117828395-Reference-T;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative C ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt GTATTCTAGACG CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaCagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAgtattctagacgAGATCGAGACCCGACGC chr9:117828395-Alternative-C;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative G ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CTGGTACAAGCG CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAActggtacaagcgAGATCGAGACCCGACGC chr9:117828395-Alternative-G;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Reference T ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt ACTCAAGTGTAC CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaTagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAactcaagtgtacAGATCGAGACCCGACGC chr9:117828395-Reference-T;Patient-75 chr9:117828395-TA DeNovo Patient-75 intronic TNC NA 4.95e-05 0.17 5.4 1.59 TNC 52140 Alternative G ttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagt CGAGCGTAGCTA CGACGCGGTCTCTCTCTttaaggctgagctaaggaaggtgataaggctttgaaaaactgttccttaaGagaaaaaagaaagaggtcctgggagaagcagatcttatgaagctcaagtAGAGGGAGACGGACGTCTCAATAAcgagcgtagctaAGATCGAGACCCGACGC chr9:117828395-Alternative-G;Patient-75 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative C acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CGCCTAGTTACA CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAcgcctagttacaAGATCGAGACCCGACGC chr9:118958966-Alternative-C;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative C acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GATTATCCGCGG CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgattatccgcggAGATCGAGACCCGACGC chr9:118958966-Alternative-C;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative C acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GATGGACGAATT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgatggacgaattAGATCGAGACCCGACGC chr9:118958966-Alternative-C;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative C acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GGACTTACTGCG CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAggacttactgcgAGATCGAGACCCGACGC chr9:118958966-Alternative-C;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Reference A acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg ATAGCAACCTAC CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAatagcaacctacAGATCGAGACCCGACGC chr9:118958966-Reference-A;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Reference A acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg AAGGCTATCCAT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAaaggctatccatAGATCGAGACCCGACGC chr9:118958966-Reference-A;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative C acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GTGTCTGAACAT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcCtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgtgtctgaacatAGATCGAGACCCGACGC chr9:118958966-Alternative-C;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Reference A acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CAGCTTAGTAAC CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAcagcttagtaacAGATCGAGACCCGACGC chr9:118958966-Reference-A;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Reference A acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CGTAACCGACAT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAcgtaaccgacatAGATCGAGACCCGACGC chr9:118958966-Reference-A;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Reference A acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CTTACGGCAGCA CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcAtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAActtacggcagcaAGATCGAGACCCGACGC chr9:118958966-Reference-A;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative T acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GCGTCTATACGC CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgcgtctatacgcAGATCGAGACCCGACGC chr9:118958966-Alternative-T;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Variant G acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg AACACCATGGAA CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAaacaccatggaaAGATCGAGACCCGACGC chr9:118958966-Variant-G;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Variant G acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GAATCGTGCATT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgaatcgtgcattAGATCGAGACCCGACGC chr9:118958966-Variant-G;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Variant G acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg AGCTTGACATGG CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAagcttgacatggAGATCGAGACCCGACGC chr9:118958966-Variant-G;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Variant G acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg ATAACGCGGTGG CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAataacgcggtggAGATCGAGACCCGACGC chr9:118958966-Variant-G;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative T acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GACGTATACCAC CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgacgtataccacAGATCGAGACCCGACGC chr9:118958966-Alternative-T;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative T acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CGATCCAACCGA CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAcgatccaaccgaAGATCGAGACCCGACGC chr9:118958966-Alternative-T;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative T acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg AACCAACCAACG CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAaaccaaccaacgAGATCGAGACCCGACGC chr9:118958966-Alternative-T;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Variant G acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg CATCTTGTCTTC CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcGtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAcatcttgtcttcAGATCGAGACCCGACGC chr9:118958966-Variant-G;Patient-37 chr9:118958966-AG DeNovo Patient-37 intronic PAPPA 0.000382 4.95e-05 -0.42 0.16 -9.65 PAPPA 42894 Alternative T acaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctg GAGTACCTAGTT CGACGCGGTCTCTCTCTacaaaactagtgtgtgaacagcattgcattttgttcatgggtttgtttgcTtaactagaatatgctcgtgttttcccatttttcagaggagcattttctgAGAGGGAGACGGACGTCTCAATAAgagtacctagttAGATCGAGACCCGACGC chr9:118958966-Alternative-T;Patient-37 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Variant C ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CTACGAAGGTTA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAActacgaaggttaAGATCGAGACCCGACGC chr9:120512554-Variant-C;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative A ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GCAACTATCGCG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgcaactatcgcgAGATCGAGACCCGACGC chr9:120512554-Alternative-A;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Reference T ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GTTCGAGTACGA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgttcgagtacgaAGATCGAGACCCGACGC chr9:120512554-Reference-T;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Reference T ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CACGTTACACCG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAcacgttacaccgAGATCGAGACCCGACGC chr9:120512554-Reference-T;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Variant C ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GATAACGCTCTA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgataacgctctaAGATCGAGACCCGACGC chr9:120512554-Variant-C;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Variant C ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CGCTTGGTATAA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAcgcttggtataaAGATCGAGACCCGACGC chr9:120512554-Variant-C;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative A ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag AACAGATGTACG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAaacagatgtacgAGATCGAGACCCGACGC chr9:120512554-Alternative-A;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative A ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CGGCGACACATA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAcggcgacacataAGATCGAGACCCGACGC chr9:120512554-Alternative-A;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative A ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GATACCTTACGA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgataccttacgaAGATCGAGACCCGACGC chr9:120512554-Alternative-A;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative G ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag ACCGAGATTGAA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAaccgagattgaaAGATCGAGACCCGACGC chr9:120512554-Alternative-G;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Reference T ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GTACCACAAGTT CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgtaccacaagttAGATCGAGACCCGACGC chr9:120512554-Reference-T;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Reference T ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag AACAGAGGCACG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAaacagaggcacgAGATCGAGACCCGACGC chr9:120512554-Reference-T;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Reference T ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CGCATTCTGCGA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaTtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAcgcattctgcgaAGATCGAGACCCGACGC chr9:120512554-Reference-T;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative G ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag AATAAGTTGGCG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAaataagttggcgAGATCGAGACCCGACGC chr9:120512554-Alternative-G;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative G ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GTCGTTAGTGAA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgtcgttagtgaaAGATCGAGACCCGACGC chr9:120512554-Alternative-G;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative A ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GTGATAGCGTTA CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaAtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgtgatagcgttaAGATCGAGACCCGACGC chr9:120512554-Alternative-A;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative G ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag CAATGTGGAGCG CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAcaatgtggagcgAGATCGAGACCCGACGC chr9:120512554-Alternative-G;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Alternative G ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag AGCAAGTGCGCT CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaGtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAagcaagtgcgctAGATCGAGACCCGACGC chr9:120512554-Alternative-G;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Variant C ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GCGAAGAGCAGT CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgcgaagagcagtAGATCGAGACCCGACGC chr9:120512554-Variant-C;Patient-100 chr9:120512554-TC DeNovo Patient-100 intergenic 9.6e-05 3.91e-05 -0.44 0.13 -5.93 TLR4 46100 Variant C ggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcag GTGGCTATCATT CGACGCGGTCTCTCTCTggaggcataaggaaggcagggggaagtatgctgtcatacctcttgtcttaCtgaattgtcagataatcctgtgattttaggaaagtatcatcaccatcagAGAGGGAGACGGACGTCTCAATAAgtggctatcattAGATCGAGACCCGACGC chr9:120512554-Variant-C;Patient-100 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative C agctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CGTAACCTAGTT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcgtaacctagttAGATCGAGACCCGACGC chr9:123593894-Alternative-C;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative C agctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag GATCCGAATCAA CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAgatccgaatcaaAGATCGAGACCCGACGC chr9:123593894-Alternative-C;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative C agctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ACGAGGCTACGA CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAacgaggctacgaAGATCGAGACCCGACGC chr9:123593894-Alternative-C;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative C agctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag AACAGCATCGTT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAaacagcatcgttAGATCGAGACCCGACGC chr9:123593894-Alternative-C;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Reference G agctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag AGGTGCCGTCAA CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAaggtgccgtcaaAGATCGAGACCCGACGC chr9:123593894-Reference-G;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Reference G agctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag GATTGTCGAATC CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAgattgtcgaatcAGATCGAGACCCGACGC chr9:123593894-Reference-G;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Reference G agctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CAGCTCAATCAG CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcagctcaatcagAGATCGAGACCCGACGC chr9:123593894-Reference-G;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Reference G agctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag AAGCGGACATTA CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAaagcggacattaAGATCGAGACCCGACGC chr9:123593894-Reference-G;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative T agctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ATTGAAGCGGAT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAattgaagcggatAGATCGAGACCCGACGC chr9:123593894-Alternative-T;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative T agctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CGTACTGCGGTT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcgtactgcggttAGATCGAGACCCGACGC chr9:123593894-Alternative-T;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Reference G agctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ACAGCGATGCAT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatGatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAacagcgatgcatAGATCGAGACCCGACGC chr9:123593894-Reference-G;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative C agctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CACGCTCTGGTT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatCatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcacgctctggttAGATCGAGACCCGACGC chr9:123593894-Alternative-C;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative T agctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ATCATGGTTGGT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAatcatggttggtAGATCGAGACCCGACGC chr9:123593894-Alternative-T;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative T agctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag AGATGCCGAAGG CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAagatgccgaaggAGATCGAGACCCGACGC chr9:123593894-Alternative-T;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Variant A agctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ACTAGCCGGTCT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAactagccggtctAGATCGAGACCCGACGC chr9:123593894-Variant-A;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Alternative T agctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ACCATTGACAGG CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatTatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAaccattgacaggAGATCGAGACCCGACGC chr9:123593894-Alternative-T;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Variant A agctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag ACCGGCTTAGGT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAaccggcttaggtAGATCGAGACCCGACGC chr9:123593894-Variant-A;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Variant A agctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CGCACCGTTAAT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcgcaccgttaatAGATCGAGACCCGACGC chr9:123593894-Variant-A;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Variant A agctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CTTGCGAATCAT CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAActtgcgaatcatAGATCGAGACCCGACGC chr9:123593894-Variant-A;Patient-84 chr9:123593894-GA DeNovo Patient-84 intronic PSMD5 NA 9.9e-05 0.02 2.9 -0.25 PSMD5 11404 Variant A agctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactag CATCTCCGGTTC CGACGCGGTCTCTCTCTagctattatttataattggaaaagacgcaaggtatcccccatagaattatAatggatactgtagatatgtatatcctagaaaatgaaaggggtttactagAGAGGGAGACGGACGTCTCAATAAcatctccggttcAGATCGAGACCCGACGC chr9:123593894-Variant-A;Patient-84 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative C cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc ATTGTCGGCACG CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAattgtcggcacgAGATCGAGACCCGACGC chr9:124063918-Alternative-C;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative C cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc AATGGTCGGACG CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAaatggtcggacgAGATCGAGACCCGACGC chr9:124063918-Alternative-C;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative C cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CACACGATAAGA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcacacgataagaAGATCGAGACCCGACGC chr9:124063918-Alternative-C;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative C cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc GTCAATTCAACC CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAgtcaattcaaccAGATCGAGACCCGACGC chr9:124063918-Alternative-C;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Reference A cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc ACGAAGAGCATC CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAacgaagagcatcAGATCGAGACCCGACGC chr9:124063918-Reference-A;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Reference A cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc GATAGCTGACTT CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAgatagctgacttAGATCGAGACCCGACGC chr9:124063918-Reference-A;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Reference A cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CGCCGTTGCTAT CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcgccgttgctatAGATCGAGACCCGACGC chr9:124063918-Reference-A;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative T cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CTCGCACGCTAA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAActcgcacgctaaAGATCGAGACCCGACGC chr9:124063918-Alternative-T;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative C cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc AACGATCCAAGA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaCaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAaacgatccaagaAGATCGAGACCCGACGC chr9:124063918-Alternative-C;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Reference A cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc AGGCTAGTGGAC CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAaggctagtggacAGATCGAGACCCGACGC chr9:124063918-Reference-A;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Variant G cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CAACACGCTCGA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcaacacgctcgaAGATCGAGACCCGACGC chr9:124063918-Variant-G;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative T cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc GAGTCAATAGCA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAgagtcaatagcaAGATCGAGACCCGACGC chr9:124063918-Alternative-T;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Variant G cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CGAATCGTTCGC CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcgaatcgttcgcAGATCGAGACCCGACGC chr9:124063918-Variant-G;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Variant G cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CAACTCGTCCGA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcaactcgtccgaAGATCGAGACCCGACGC chr9:124063918-Variant-G;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Variant G cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc ACGATCGAACGC CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAacgatcgaacgcAGATCGAGACCCGACGC chr9:124063918-Variant-G;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative T cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc ACGACCAAGATA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAacgaccaagataAGATCGAGACCCGACGC chr9:124063918-Alternative-T;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Variant G cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc GACATGCGATGG CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaGaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAgacatgcgatggAGATCGAGACCCGACGC chr9:124063918-Variant-G;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative T cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CACATACTCTGA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcacatactctgaAGATCGAGACCCGACGC chr9:124063918-Alternative-T;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Alternative T cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CGGCGTGTTAAG CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaTaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcggcgtgttaagAGATCGAGACCCGACGC chr9:124063918-Alternative-T;Patient-59 chr9:124063918-AG DeNovo Patient-59 intronic GSN 0.000166 0.000148 0.23 6.32 0.23 GSN 33537 Reference A cactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagccc CGCCACAACTAA CGACGCGGTCTCTCTCTcactccagactggacaacagtgcgagactctgtctcaaaaaaaaaaaaaaAaaaagaaaaaaagaaagaaagaaaagaaaggagcagggaggtagagcccAGAGGGAGACGGACGTCTCAATAAcgccacaactaaAGATCGAGACCCGACGC chr9:124063918-Reference-A;Patient-59 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Reference C aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AACGTGCAGACG CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAaacgtgcagacgAGATCGAGACCCGACGC chr9:126095063-Reference-C;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Reference C aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AACTCGGCGTCA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAaactcggcgtcaAGATCGAGACCCGACGC chr9:126095063-Reference-C;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Reference C aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GATCGAGTTGTT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgatcgagttgttAGATCGAGACCCGACGC chr9:126095063-Reference-C;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Reference C aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GAATCATACCAC CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgaatcataccacAGATCGAGACCCGACGC chr9:126095063-Reference-C;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative A aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GACTGCGGATCA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgactgcggatcaAGATCGAGACCCGACGC chr9:126095063-Alternative-A;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Reference C aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AGAGCTGACTAA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccCtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAagagctgactaaAGATCGAGACCCGACGC chr9:126095063-Reference-C;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Variant T aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc CAACCTACTATC CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAcaacctactatcAGATCGAGACCCGACGC chr9:126095063-Variant-T;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative A aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc CGAATTCTAACG CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAcgaattctaacgAGATCGAGACCCGACGC chr9:126095063-Alternative-A;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Variant T aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AGTCAAGCCACT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAagtcaagccactAGATCGAGACCCGACGC chr9:126095063-Variant-T;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Variant T aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc CATCTGACGGCA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAcatctgacggcaAGATCGAGACCCGACGC chr9:126095063-Variant-T;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative A aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GTGCTCACATAA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgtgctcacataaAGATCGAGACCCGACGC chr9:126095063-Alternative-A;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Variant T aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AATCGTGGACGG CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAaatcgtggacggAGATCGAGACCCGACGC chr9:126095063-Variant-T;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative A aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GTCGCTGTACCT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgtcgctgtacctAGATCGAGACCCGACGC chr9:126095063-Alternative-A;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative A aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GCGTTCTGGCAA CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccAtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgcgttctggcaaAGATCGAGACCCGACGC chr9:126095063-Alternative-A;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative G aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GCGTGCACTCAT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgcgtgcactcatAGATCGAGACCCGACGC chr9:126095063-Alternative-G;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Variant T aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc AGAGCATGCGAC CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccTtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAagagcatgcgacAGATCGAGACCCGACGC chr9:126095063-Variant-T;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative G aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GCAGGTGTACTT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgcaggtgtacttAGATCGAGACCCGACGC chr9:126095063-Alternative-G;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative G aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc ATAGAGGTAGCG CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAatagaggtagcgAGATCGAGACCCGACGC chr9:126095063-Alternative-G;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative G aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GCGTCGGTATGT CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgcgtcggtatgtAGATCGAGACCCGACGC chr9:126095063-Alternative-G;Patient-49 chr9:126095063-CT DeNovo Patient-49 intergenic NA 0.000513 -0.27 0.45 -3.9 CRB2 23384 Alternative G aggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgc GTTGGCGCAATC CGACGCGGTCTCTCTCTaggttgagtgccttgccccagataattggctgaaccaggtcaatctccccGtaaatctcaccacttaactacctcctagggttgagtcaaatggggtcgcAGAGGGAGACGGACGTCTCAATAAgttggcgcaatcAGATCGAGACCCGACGC chr9:126095063-Alternative-G;Patient-49 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative T ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc ACTAGCCTGGAT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAactagcctggatAGATCGAGACCCGACGC chr9:126825591-Alternative-T;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Reference G ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc ACTCAAGGCCGA CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAactcaaggccgaAGATCGAGACCCGACGC chr9:126825591-Reference-G;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Variant A ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc ATAGGCGAGTCG CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAataggcgagtcgAGATCGAGACCCGACGC chr9:126825591-Variant-A;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Reference G ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CATTGCGGCAGT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAcattgcggcagtAGATCGAGACCCGACGC chr9:126825591-Reference-G;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Variant A ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc AGTATTCCGCTT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAagtattccgcttAGATCGAGACCCGACGC chr9:126825591-Variant-A;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Reference G ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CTGTCGAGTAAT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAActgtcgagtaatAGATCGAGACCCGACGC chr9:126825591-Reference-G;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative T ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CACATTCTGCGC CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAcacattctgcgcAGATCGAGACCCGACGC chr9:126825591-Alternative-T;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative T ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GGACGACTACGA CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAggacgactacgaAGATCGAGACCCGACGC chr9:126825591-Alternative-T;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Reference G ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GATGTGGCGTGA CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAgatgtggcgtgaAGATCGAGACCCGACGC chr9:126825591-Reference-G;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Variant A ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CAGCTGTGAAGG CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAcagctgtgaaggAGATCGAGACCCGACGC chr9:126825591-Variant-A;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Variant A ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GCGAACTTCATA CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAgcgaacttcataAGATCGAGACCCGACGC chr9:126825591-Variant-A;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative T ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GTAACACAGGAT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAgtaacacaggatAGATCGAGACCCGACGC chr9:126825591-Alternative-T;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative T ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc AGGCCGTAGTGT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtTgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAaggccgtagtgtAGATCGAGACCCGACGC chr9:126825591-Alternative-T;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative C ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CTAATATGCGCT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAActaatatgcgctAGATCGAGACCCGACGC chr9:126825591-Alternative-C;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Variant A ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GACGCATTATGG CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtAgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAgacgcattatggAGATCGAGACCCGACGC chr9:126825591-Variant-A;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative C ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc ACGCGCACGATT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAacgcgcacgattAGATCGAGACCCGACGC chr9:126825591-Alternative-C;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Reference G ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CTAGCGGTTCGT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtGgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAActagcggttcgtAGATCGAGACCCGACGC chr9:126825591-Reference-G;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative C ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc CTATGCGCAATC CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAActatgcgcaatcAGATCGAGACCCGACGC chr9:126825591-Alternative-C;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative C ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc ATTACTCGACCT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAattactcgacctAGATCGAGACCCGACGC chr9:126825591-Alternative-C;Patient-83 chr9:126825591-GA Inherited Patient-83 intergenic 0.000159 0.00154 -0.03 2.2 0.24 LHX2 51701 Alternative C ctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatc GATTCGGACATT CGACGCGGTCTCTCTCTctcagccttattctcatctgtaaaatgggaataatgaggcccggcacagtCgctcacgcctgtaatcccagcactttgggaggccaaggtggctgtcatcAGAGGGAGACGGACGTCTCAATAAgattcggacattAGATCGAGACCCGACGC chr9:126825591-Alternative-C;Patient-83 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Reference G aagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GGACCATTGTCG CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAggaccattgtcgAGATCGAGACCCGACGC chr9:126839602-Reference-G;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Reference G aagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg ACTGAGAGCGCT CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAactgagagcgctAGATCGAGACCCGACGC chr9:126839602-Reference-G;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Reference G aagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GTGACGCACGTT CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAgtgacgcacgttAGATCGAGACCCGACGC chr9:126839602-Reference-G;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative T aagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg ACGGCAGTTCCA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAacggcagttccaAGATCGAGACCCGACGC chr9:126839602-Alternative-T;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative T aagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GTGAATTAACGC CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAgtgaattaacgcAGATCGAGACCCGACGC chr9:126839602-Alternative-T;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Reference G aagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg CGGTAGTATATC CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAcggtagtatatcAGATCGAGACCCGACGC chr9:126839602-Reference-G;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Variant A aagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg CGCGTCTGGATA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAcgcgtctggataAGATCGAGACCCGACGC chr9:126839602-Variant-A;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Variant A aagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg ACCGTTCGTACA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAaccgttcgtacaAGATCGAGACCCGACGC chr9:126839602-Variant-A;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Variant A aagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg AAGAACGGAGCG CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAaagaacggagcgAGATCGAGACCCGACGC chr9:126839602-Variant-A;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative C aagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg ACGCATCACAAC CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAacgcatcacaacAGATCGAGACCCGACGC chr9:126839602-Alternative-C;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative T aagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GGAGTATTGAGT CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAggagtattgagtAGATCGAGACCCGACGC chr9:126839602-Alternative-T;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative T aagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GAGTCCATACTA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAgagtccatactaAGATCGAGACCCGACGC chr9:126839602-Alternative-T;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Variant A aagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg CAAGCGAATCAG CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAcaagcgaatcagAGATCGAGACCCGACGC chr9:126839602-Variant-A;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative T aagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg CTCGTGCCAGAA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccTgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAActcgtgccagaaAGATCGAGACCCGACGC chr9:126839602-Alternative-T;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative C aagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg CATGTCGGTATA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAcatgtcggtataAGATCGAGACCCGACGC chr9:126839602-Alternative-C;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative C aagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GCATACGCTTAA CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAgcatacgcttaaAGATCGAGACCCGACGC chr9:126839602-Alternative-C;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Reference G aagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GGTTAATTGCGT CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccGgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAggttaattgcgtAGATCGAGACCCGACGC chr9:126839602-Reference-G;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Variant A aagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg GACGGCTGACTT CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccAgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAgacggctgacttAGATCGAGACCCGACGC chr9:126839602-Variant-A;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative C aagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg AGGAACATAGCG CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAaggaacatagcgAGATCGAGACCCGACGC chr9:126839602-Alternative-C;Patient-33 chr9:126839602-GA DeNovo Patient-33 intergenic NA 0.000513 NA NA NA LHX2 65712 Alternative C aagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctg AGAGTACGTATC CGACGCGGTCTCTCTCTaagcttttttttttttttttttttgagacagagtctccctctgttgccccCgctggagtgcaatggggtgatcacagctcactgcaacctctgcctgctgAGAGGGAGACGGACGTCTCAATAAagagtacgtatcAGATCGAGACCCGACGC chr9:126839602-Alternative-C;Patient-33 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative A aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctg GGATGACTGGCA CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAggatgactggcaAGATCGAGACCCGACGC chr9:126870546-Alternative-A;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative C aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctg ACAACCACGCGA CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAacaaccacgcgaAGATCGAGACCCGACGC chr9:126870546-Alternative-C;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative A aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctg GTAATCGGACAT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAgtaatcggacatAGATCGAGACCCGACGC chr9:126870546-Alternative-A;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative C aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctg ACCGGTGAATCG CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAaccggtgaatcgAGATCGAGACCCGACGC chr9:126870546-Alternative-C;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Variant T aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctg GGACCATGAATC CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAggaccatgaatcAGATCGAGACCCGACGC chr9:126870546-Variant-T;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative C aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CAAGTCGGATGG CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcaagtcggatggAGATCGAGACCCGACGC chr9:126870546-Alternative-C;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative C aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctg ATATGTACCGGT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAatatgtaccggtAGATCGAGACCCGACGC chr9:126870546-Alternative-C;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Variant T aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctg AGAGTGCGACTT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAagagtgcgacttAGATCGAGACCCGACGC chr9:126870546-Variant-T;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative C aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CAGCTCACATGG CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttCgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcagctcacatggAGATCGAGACCCGACGC chr9:126870546-Alternative-C;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative A aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctg ACTTAGACGAGA CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAacttagacgagaAGATCGAGACCCGACGC chr9:126870546-Alternative-A;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative A aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctg AGTCGACTAAGT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAagtcgactaagtAGATCGAGACCCGACGC chr9:126870546-Alternative-A;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Alternative A aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CTAATAAGCGGT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttAgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAActaataagcggtAGATCGAGACCCGACGC chr9:126870546-Alternative-A;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Variant T aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CTGGTCACCAAG CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAActggtcaccaagAGATCGAGACCCGACGC chr9:126870546-Variant-T;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Reference G aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctg AACCAACTAACC CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAaaccaactaaccAGATCGAGACCCGACGC chr9:126870546-Reference-G;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Reference G aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CATGTTGGTCGC CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcatgttggtcgcAGATCGAGACCCGACGC chr9:126870546-Reference-G;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Reference G aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctg ACCGTACATCTA CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAaccgtacatctaAGATCGAGACCCGACGC chr9:126870546-Reference-G;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Variant T aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctg GTGACGCGTAAG CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAgtgacgcgtaagAGATCGAGACCCGACGC chr9:126870546-Variant-T;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Variant T aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CGACTATACGGC CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttTgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcgactatacggcAGATCGAGACCCGACGC chr9:126870546-Variant-T;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Reference G aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CGTTCTGACGTC CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcgttctgacgtcAGATCGAGACCCGACGC chr9:126870546-Reference-G;Patient-36 chr9:126870546-GT DeNovo Patient-36 intergenic 0.00035 0.000513 0.58 10.1 3.88 LHX2 96656 Reference G aactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctg CATGTTAGCCTT CGACGCGGTCTCTCTCTaactttttcttttaaaagctaatcatcttttcagtattattggtgtgcttGgccaaactttccataatccctcacctgagtcagattgtgggaaattctgAGAGGGAGACGGACGTCTCAATAAcatgttagccttAGATCGAGACCCGACGC chr9:126870546-Reference-G;Patient-36 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Reference T ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AACAACAGCACA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAaacaacagcacaAGATCGAGACCCGACGC chr9:12709687-Reference-T;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative G ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AGTAGTGCGAAT CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAagtagtgcgaatAGATCGAGACCCGACGC chr9:12709687-Alternative-G;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Reference T ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AACGTTAGACCG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAaacgttagaccgAGATCGAGACCCGACGC chr9:12709687-Reference-T;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Reference T ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta CGCAGTATGTCG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAcgcagtatgtcgAGATCGAGACCCGACGC chr9:12709687-Reference-T;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative A ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta ATCTATCCGGCG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAatctatccggcgAGATCGAGACCCGACGC chr9:12709687-Alternative-A;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative G ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GACGACGTTCGT CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgacgacgttcgtAGATCGAGACCCGACGC chr9:12709687-Alternative-G;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Variant C ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AAGATCCTGCAT CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAaagatcctgcatAGATCGAGACCCGACGC chr9:12709687-Variant-C;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Variant C ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AGACGTAAGCGG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAagacgtaagcggAGATCGAGACCCGACGC chr9:12709687-Variant-C;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative A ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta ACGAACATCGCG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAacgaacatcgcgAGATCGAGACCCGACGC chr9:12709687-Alternative-A;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative G ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GTCGACATCACG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgtcgacatcacgAGATCGAGACCCGACGC chr9:12709687-Alternative-G;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Reference T ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GCGATACGCCTA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgcgatacgcctaAGATCGAGACCCGACGC chr9:12709687-Reference-T;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative G ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta CAGTAACAACAG CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAcagtaacaacagAGATCGAGACCCGACGC chr9:12709687-Alternative-G;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Variant C ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GCCAAGCCGATA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgccaagccgataAGATCGAGACCCGACGC chr9:12709687-Variant-C;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative G ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GACGACTTAAGA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaGtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgacgacttaagaAGATCGAGACCCGACGC chr9:12709687-Alternative-G;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Reference T ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta CAACGGTGTCGT CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaTtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAcaacggtgtcgtAGATCGAGACCCGACGC chr9:12709687-Reference-T;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative A ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GCGGACGATGAA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAgcggacgatgaaAGATCGAGACCCGACGC chr9:12709687-Alternative-A;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative A ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta CACGACACCTAA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAcacgacacctaaAGATCGAGACCCGACGC chr9:12709687-Alternative-A;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Alternative A ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta ATTGCGCTGTTA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaAtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAattgcgctgttaAGATCGAGACCCGACGC chr9:12709687-Alternative-A;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Variant C ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta GGCCATATATGT CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAggccatatatgtAGATCGAGACCCGACGC chr9:12709687-Variant-C;Patient-79 chr9:12709687-TC DeNovo Patient-79 3 prime UTR TYRP1 NA 0.000159744 0.09 4.1 0.8 TYRP1 16300 Variant C ttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatatta AACCGTCGATTA CGACGCGGTCTCTCTCTttaattaaagaaaattaattatgtgtagttataaaccaatgaaattttgaCtaaccttttcaaattaatgttccagtttgaagaccaatcaaatatattaAGAGGGAGACGGACGTCTCAATAAaaccgtcgattaAGATCGAGACCCGACGC chr9:12709687-Variant-C;Patient-79 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Reference G caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GGTGACTTCTGG CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAggtgacttctggAGATCGAGACCCGACGC chr9:127295375-Reference-G;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Reference G caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CTATATCCGGCG CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAActatatccggcgAGATCGAGACCCGACGC chr9:127295375-Reference-G;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Reference G caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta ACAGACGATCAA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAacagacgatcaaAGATCGAGACCCGACGC chr9:127295375-Reference-G;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Reference G caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GATTCAACCTGA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgattcaacctgaAGATCGAGACCCGACGC chr9:127295375-Reference-G;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Reference G caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CAGAGATAACGG CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggGcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcagagataacggAGATCGAGACCCGACGC chr9:127295375-Reference-G;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Variant T caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CATATGCGCGCT CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcatatgcgcgctAGATCGAGACCCGACGC chr9:127295375-Variant-T;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Variant T caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CAGTACGTATAC CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcagtacgtatacAGATCGAGACCCGACGC chr9:127295375-Variant-T;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Variant T caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CGATATCGCGAC CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcgatatcgcgacAGATCGAGACCCGACGC chr9:127295375-Variant-T;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Variant T caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CACTTCGTCTGG CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcacttcgtctggAGATCGAGACCCGACGC chr9:127295375-Variant-T;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Variant T caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta AAGGTTATCAGG CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggTcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAaaggttatcaggAGATCGAGACCCGACGC chr9:127295375-Variant-T;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative A caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta ACGAGGCTAGCA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAacgaggctagcaAGATCGAGACCCGACGC chr9:127295375-Alternative-A;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative C caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GTCGTTCGGAAC CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgtcgttcggaacAGATCGAGACCCGACGC chr9:127295375-Alternative-C;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative A caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GAGATACGTCAA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgagatacgtcaaAGATCGAGACCCGACGC chr9:127295375-Alternative-A;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative C caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta AATACGCGTTGT CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAaatacgcgttgtAGATCGAGACCCGACGC chr9:127295375-Alternative-C;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative A caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GAGTACTACGAA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgagtactacgaaAGATCGAGACCCGACGC chr9:127295375-Alternative-A;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative C caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GTCCGCTAATAA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgtccgctaataaAGATCGAGACCCGACGC chr9:127295375-Alternative-C;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative C caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta CAACATAAGCGA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAcaacataagcgaAGATCGAGACCCGACGC chr9:127295375-Alternative-C;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative A caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GATATGCGTGAA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgatatgcgtgaaAGATCGAGACCCGACGC chr9:127295375-Alternative-A;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative C caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GTGAGAACTCCT CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggCcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgtgagaactcctAGATCGAGACCCGACGC chr9:127295375-Alternative-C;Patient-55 chr9:127295375-GT DeNovo Patient-55 intronic NR6A1 0.000828 0.000346 0.29 7.12 3.06 NR5A1 25675 Alternative A caaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgta GAAGATCCAACA CGACGCGGTCTCTCTCTcaaagccagagaaccctgtactgccagtgacccctgcctgcctgcagaggAcctgggcaaacccattacttggaagtggagtccaaaggctgatcctgtaAGAGGGAGACGGACGTCTCAATAAgaagatccaacaAGATCGAGACCCGACGC chr9:127295375-Alternative-A;Patient-55 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative A tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg ACCGGACTTGCT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAaccggacttgctAGATCGAGACCCGACGC chr9:127586135-Alternative-A;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Reference G tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GAGGTAGCCAAT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgaggtagccaatAGATCGAGACCCGACGC chr9:127586135-Reference-G;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative A tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AGCTCACTTCCT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAagctcacttcctAGATCGAGACCCGACGC chr9:127586135-Alternative-A;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative A tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AAGTAGTCGAGT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAaagtagtcgagtAGATCGAGACCCGACGC chr9:127586135-Alternative-A;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Variant C tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg ACGAAGCCGATA CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAacgaagccgataAGATCGAGACCCGACGC chr9:127586135-Variant-C;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Reference G tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GAAGTTCATCGT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgaagttcatcgtAGATCGAGACCCGACGC chr9:127586135-Reference-G;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Reference G tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GGTGTATCCGAC CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAggtgtatccgacAGATCGAGACCCGACGC chr9:127586135-Reference-G;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Variant C tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AAGTGTCGGCAG CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAaagtgtcggcagAGATCGAGACCCGACGC chr9:127586135-Variant-C;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Reference G tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg ACAGCTAGCCGA CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAacagctagccgaAGATCGAGACCCGACGC chr9:127586135-Reference-G;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative T tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AATAGATGACGC CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAaatagatgacgcAGATCGAGACCCGACGC chr9:127586135-Alternative-T;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Reference G tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GTCGCTCTAATT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaGtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgtcgctctaattAGATCGAGACCCGACGC chr9:127586135-Reference-G;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Variant C tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AGATCGTCTAAC CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAagatcgtctaacAGATCGAGACCCGACGC chr9:127586135-Variant-C;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Variant C tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GGACGGAATTAT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAggacggaattatAGATCGAGACCCGACGC chr9:127586135-Variant-C;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative T tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg CAAGGAACTAGT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAcaaggaactagtAGATCGAGACCCGACGC chr9:127586135-Alternative-T;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative A tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GGTTCAAGGCGT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAggttcaaggcgtAGATCGAGACCCGACGC chr9:127586135-Alternative-A;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Variant C tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GATAGTTCGCAG CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaCtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgatagttcgcagAGATCGAGACCCGACGC chr9:127586135-Variant-C;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative A tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GACATACGGCCA CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaAtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgacatacggccaAGATCGAGACCCGACGC chr9:127586135-Alternative-A;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative T tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AGTGATAGTCGT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAagtgatagtcgtAGATCGAGACCCGACGC chr9:127586135-Alternative-T;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative T tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg GATTCATAGCCA CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAgattcatagccaAGATCGAGACCCGACGC chr9:127586135-Alternative-T;Patient-57 chr9:127586135-GC DeNovo Patient-57 intergenic NA 0.000512821 -0.48 0.1 -1.19 WDR38 29560 Alternative T tttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcg AGTAGTCGCATT CGACGCGGTCTCTCTCTtttttttttttttagacagagtcttgttctgtcacccaggctggagtgcaTtggtgcaatgttgcagcctactgcaacctccgcctgccgggtttaagcgAGAGGGAGACGGACGTCTCAATAAagtagtcgcattAGATCGAGACCCGACGC chr9:127586135-Alternative-T;Patient-57 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative C ccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag GCGGTCTGTCAT CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAgcggtctgtcatAGATCGAGACCCGACGC chr9:128575562-Alternative-C;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative C ccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CTACGGCGAGAA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAActacggcgagaaAGATCGAGACCCGACGC chr9:128575562-Alternative-C;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative C ccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag AGATTCCACGCG CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAagattccacgcgAGATCGAGACCCGACGC chr9:128575562-Alternative-C;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Variant G ccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CTTAGACGACGC CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAActtagacgacgcAGATCGAGACCCGACGC chr9:128575562-Variant-G;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Variant G ccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACAACTCTAGCA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAacaactctagcaAGATCGAGACCCGACGC chr9:128575562-Variant-G;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Variant G ccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACTATGAGTCGT CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAactatgagtcgtAGATCGAGACCCGACGC chr9:128575562-Variant-G;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative C ccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CAGTAGCTACTA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAcagtagctactaAGATCGAGACCCGACGC chr9:128575562-Alternative-C;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Variant G ccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CAGTCGAATTCG CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAcagtcgaattcgAGATCGAGACCCGACGC chr9:128575562-Variant-G;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative C ccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ATTGGTAGGTTC CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttCgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAattggtaggttcAGATCGAGACCCGACGC chr9:128575562-Alternative-C;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Reference T ccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CACGAATCAACC CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAcacgaatcaaccAGATCGAGACCCGACGC chr9:128575562-Reference-T;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Reference T ccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACACGCTCATAA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAacacgctcataaAGATCGAGACCCGACGC chr9:128575562-Reference-T;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative A ccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACCAAGACCATC CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAaccaagaccatcAGATCGAGACCCGACGC chr9:128575562-Alternative-A;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Variant G ccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag CGCCATTCTGCA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttGgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAcgccattctgcaAGATCGAGACCCGACGC chr9:128575562-Variant-G;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative A ccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag AGCGCAACTCGT CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAagcgcaactcgtAGATCGAGACCCGACGC chr9:128575562-Alternative-A;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative A ccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag AGATGATGATCG CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAagatgatgatcgAGATCGAGACCCGACGC chr9:128575562-Alternative-A;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Reference T ccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag GACGGCTAACCA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAgacggctaaccaAGATCGAGACCCGACGC chr9:128575562-Reference-T;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Reference T ccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag AACGCGAAGCCA CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAaacgcgaagccaAGATCGAGACCCGACGC chr9:128575562-Reference-T;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative A ccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACGTGAATCGAT CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAacgtgaatcgatAGATCGAGACCCGACGC chr9:128575562-Alternative-A;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Alternative A ccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag ACCGATCCGAGT CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttAgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAaccgatccgagtAGATCGAGACCCGACGC chr9:128575562-Alternative-A;Patient-89 chr9:128575562-TG Inherited Patient-89 intronic PBX3 0.000767 0.000197961 0.16 5.26 0.67 PBX3 65944 Reference T ccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtag GCAATCATCGGC CGACGCGGTCTCTCTCTccgtattctataacctttttattaattttttttactttttaattttttttTgttaaaaaccaagccaaacacacattggcataggccaatgtgtaagtagAGAGGGAGACGGACGTCTCAATAAgcaatcatcggcAGATCGAGACCCGACGC chr9:128575562-Reference-T;Patient-89 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative C gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa CTTGTAGGCGAC CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAActtgtaggcgacAGATCGAGACCCGACGC chr9:130460226-Alternative-C;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative C gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ATTCAAGCCGCA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAattcaagccgcaAGATCGAGACCCGACGC chr9:130460226-Alternative-C;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative C gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa CGGTAGCGTTCA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAcggtagcgttcaAGATCGAGACCCGACGC chr9:130460226-Alternative-C;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Reference A gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa AGGACACCAACC CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAaggacaccaaccAGATCGAGACCCGACGC chr9:130460226-Reference-A;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Reference A gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ACGTCGAATCAT CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAacgtcgaatcatAGATCGAGACCCGACGC chr9:130460226-Reference-A;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Reference A gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ATCGCTTGCACA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAatcgcttgcacaAGATCGAGACCCGACGC chr9:130460226-Reference-A;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Reference A gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa CGATGAATGCGC CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAcgatgaatgcgcAGATCGAGACCCGACGC chr9:130460226-Reference-A;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative G gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa AGCAGTGCCAGA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAagcagtgccagaAGATCGAGACCCGACGC chr9:130460226-Alternative-G;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Variant T gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GGCTGATCGTCA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAggctgatcgtcaAGATCGAGACCCGACGC chr9:130460226-Variant-T;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Variant T gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GTAACCACGCGA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgtaaccacgcgaAGATCGAGACCCGACGC chr9:130460226-Variant-T;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Variant T gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ATTGCACGTAGA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAattgcacgtagaAGATCGAGACCCGACGC chr9:130460226-Variant-T;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Variant T gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GGACGCATTGAG CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAggacgcattgagAGATCGAGACCCGACGC chr9:130460226-Variant-T;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative G gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GCACCACGTATC CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgcaccacgtatcAGATCGAGACCCGACGC chr9:130460226-Alternative-G;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Reference A gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GATCGTATCTTC CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctActtcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgatcgtatcttcAGATCGAGACCCGACGC chr9:130460226-Reference-A;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Variant T gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ACGTCAAGACCT CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctTcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAacgtcaagacctAGATCGAGACCCGACGC chr9:130460226-Variant-T;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative G gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GTGTATGGCTTA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgtgtatggcttaAGATCGAGACCCGACGC chr9:130460226-Alternative-G;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative C gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GTTCCATCTAAG CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgttccatctaagAGATCGAGACCCGACGC chr9:130460226-Alternative-C;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative G gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GTCTCTCGTAAT CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgtctctcgtaatAGATCGAGACCCGACGC chr9:130460226-Alternative-G;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative C gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa GTGTTCGCTATA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctCcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAgtgttcgctataAGATCGAGACCCGACGC chr9:130460226-Alternative-C;Patient-17 chr9:130460226-AT Inherited Patient-17 intergenic 0.000382 0.00103 0.8 11.83 0 CDK9 88078 Alternative G gatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaa ATCGGTGATCAA CGACGCGGTCTCTCTCTgatgacaccaaaagcacagacaaaacaagaaaaaataggtaaactgttctGcttcaaaatttaaagctacaatccaaggacacaatctgcagggtgaaaaAGAGGGAGACGGACGTCTCAATAAatcggtgatcaaAGATCGAGACCCGACGC chr9:130460226-Alternative-G;Patient-17 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Variant C gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat AAGGAGTTGTGT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAaaggagttgtgtAGATCGAGACCCGACGC chr9:130651739-Variant-C;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Variant C gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat ACCTAACCAAGG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAacctaaccaaggAGATCGAGACCCGACGC chr9:130651739-Variant-C;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Variant C gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CAATAGGCCAAT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcaataggccaatAGATCGAGACCCGACGC chr9:130651739-Variant-C;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative A gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat AACTAACGTGCT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAaactaacgtgctAGATCGAGACCCGACGC chr9:130651739-Alternative-A;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative G gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CGTTGGTTGCGA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcgttggttgcgaAGATCGAGACCCGACGC chr9:130651739-Alternative-G;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Variant C gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat GTGTCTCGCAAG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAgtgtctcgcaagAGATCGAGACCCGACGC chr9:130651739-Variant-C;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative A gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat AAGGCTTCGTCG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAaaggcttcgtcgAGATCGAGACCCGACGC chr9:130651739-Alternative-A;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative G gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CGCCTCGTTAGT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcgcctcgttagtAGATCGAGACCCGACGC chr9:130651739-Alternative-G;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative G gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CAGGCGTAGACT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcaggcgtagactAGATCGAGACCCGACGC chr9:130651739-Alternative-G;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative A gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CGGAAGTAACAT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcggaagtaacatAGATCGAGACCCGACGC chr9:130651739-Alternative-A;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative G gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CAGTAGAGTCAA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcagtagagtcaaAGATCGAGACCCGACGC chr9:130651739-Alternative-G;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Variant C gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat GTATTCGCCTTA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcCtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAgtattcgccttaAGATCGAGACCCGACGC chr9:130651739-Variant-C;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative A gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat AGACGTAATACG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAagacgtaatacgAGATCGAGACCCGACGC chr9:130651739-Alternative-A;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Reference T gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CATAGCAGTGAA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAcatagcagtgaaAGATCGAGACCCGACGC chr9:130651739-Reference-T;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Reference T gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat CTGGTTATGAGT CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAActggttatgagtAGATCGAGACCCGACGC chr9:130651739-Reference-T;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Reference T gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat ACCTAGCAATCA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAacctagcaatcaAGATCGAGACCCGACGC chr9:130651739-Reference-T;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Reference T gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat AGAGCAAGGCCA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAagagcaaggccaAGATCGAGACCCGACGC chr9:130651739-Reference-T;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative G gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat GTAACCAATAGG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcGtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAgtaaccaataggAGATCGAGACCCGACGC chr9:130651739-Alternative-G;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Reference T gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat GAATGGATTGAG CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcTtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAgaatggattgagAGATCGAGACCCGACGC chr9:130651739-Reference-T;Patient-41 chr9:130651739-TC DeNovo Patient-41 intronic ST6GALNAC6 NA 4.95e-05 -0.04 2.07 0 ST6GALNAC6 10131 Alternative A gatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggat GATCCGATGACA CGACGCGGTCTCTCTCTgatcaacacacaaaaatcaatttctcttttttttcttttttttttttttcAtgagatggagtctcgccttgtggcctaggctggagtgcaatggcaggatAGAGGGAGACGGACGTCTCAATAAgatccgatgacaAGATCGAGACCCGACGC chr9:130651739-Alternative-A;Patient-41 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative G ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ATTGGACTACGT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAattggactacgtAGATCGAGACCCGACGC chr9:130763666-Alternative-G;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Reference T ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ACGCCGTTGCTA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAacgccgttgctaAGATCGAGACCCGACGC chr9:130763666-Reference-T;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative G ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct CAGGCTTCGGAA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAcaggcttcggaaAGATCGAGACCCGACGC chr9:130763666-Alternative-G;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Reference T ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct AAGGAACATTCG CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAaaggaacattcgAGATCGAGACCCGACGC chr9:130763666-Reference-T;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative G ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct GGTGGCTAACAG CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAggtggctaacagAGATCGAGACCCGACGC chr9:130763666-Alternative-G;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative G ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct CTCGTACTGATT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAActcgtactgattAGATCGAGACCCGACGC chr9:130763666-Alternative-G;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative G ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct GTTAGGCTTGAT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagGaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAgttaggcttgatAGATCGAGACCCGACGC chr9:130763666-Alternative-G;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Reference T ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ATAAGATGCCGA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAataagatgccgaAGATCGAGACCCGACGC chr9:130763666-Reference-T;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Reference T ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct GACTACTAACGG CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAgactactaacggAGATCGAGACCCGACGC chr9:130763666-Reference-T;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Reference T ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct GCATCTGGCGAA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagTaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAgcatctggcgaaAGATCGAGACCCGACGC chr9:130763666-Reference-T;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative A ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct GCATTCAGTAAC CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAgcattcagtaacAGATCGAGACCCGACGC chr9:130763666-Alternative-A;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative A ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ACGCATCCAACG CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAacgcatccaacgAGATCGAGACCCGACGC chr9:130763666-Alternative-A;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative A ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct CTGCGAATTACA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAActgcgaattacaAGATCGAGACCCGACGC chr9:130763666-Alternative-A;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative A ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ACGTGCTATATC CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAacgtgctatatcAGATCGAGACCCGACGC chr9:130763666-Alternative-A;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Alternative A ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct CTTATGGTACGA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagAaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAActtatggtacgaAGATCGAGACCCGACGC chr9:130763666-Alternative-A;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Variant C ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct ATCGCTATCCAT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAatcgctatccatAGATCGAGACCCGACGC chr9:130763666-Variant-C;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Variant C ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct AATGTGCTTGAC CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAaatgtgcttgacAGATCGAGACCCGACGC chr9:130763666-Variant-C;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Variant C ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct CAACGGATTGTT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAcaacggattgttAGATCGAGACCCGACGC chr9:130763666-Variant-C;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Variant C ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct AAGTCAGGTCAA CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAaagtcaggtcaaAGATCGAGACCCGACGC chr9:130763666-Variant-C;Patient-68 chr9:130763666-TC Inherited Patient-68 intergenic 9.6e-05 0.00103 0.85 12.21 -0.64 DPM2 62902 Variant C ggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggct AATCACGCATGT CGACGCGGTCTCTCTCTggatatgtttgggtgtttgcagttttttaccatttcaagccacactgcagCaagcacccttgtaaatgctccctatgcactgctgggagggtcttgggctAGAGGGAGACGGACGTCTCAATAAaatcacgcatgtAGATCGAGACCCGACGC chr9:130763666-Variant-C;Patient-68 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Reference G gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GCATGTCGTCGA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgcatgtcgtcgaAGATCGAGACCCGACGC chr9:131065190-Reference-G;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative T gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg ACACGGACTGGT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAacacggactggtAGATCGAGACCCGACGC chr9:131065190-Alternative-T;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Reference G gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GACAAGAGTACT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgacaagagtactAGATCGAGACCCGACGC chr9:131065190-Reference-G;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Reference G gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg ATCCTGACGTGG CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAatcctgacgtggAGATCGAGACCCGACGC chr9:131065190-Reference-G;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Reference G gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CTTGAAGCTACA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAActtgaagctacaAGATCGAGACCCGACGC chr9:131065190-Reference-G;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative T gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GGCGAACCGTTA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAggcgaaccgttaAGATCGAGACCCGACGC chr9:131065190-Alternative-T;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Reference G gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg AGGCGTATAAGT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcGggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAaggcgtataagtAGATCGAGACCCGACGC chr9:131065190-Reference-G;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative T gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CAGGACGCTAAG CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAcaggacgctaagAGATCGAGACCCGACGC chr9:131065190-Alternative-T;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative T gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GCGTATACCATT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgcgtataccattAGATCGAGACCCGACGC chr9:131065190-Alternative-T;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Variant A gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GTAGATTGCACA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgtagattgcacaAGATCGAGACCCGACGC chr9:131065190-Variant-A;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative T gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GAAGATCCGCTT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcTggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgaagatccgcttAGATCGAGACCCGACGC chr9:131065190-Alternative-T;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Variant A gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CAGATGTGTTGT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAcagatgtgttgtAGATCGAGACCCGACGC chr9:131065190-Variant-A;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative C gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg ATAATCGGTGCA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAataatcggtgcaAGATCGAGACCCGACGC chr9:131065190-Alternative-C;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Variant A gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg AGATACGCGCAG CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAagatacgcgcagAGATCGAGACCCGACGC chr9:131065190-Variant-A;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Variant A gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CAACACCTCGAA CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAcaacacctcgaaAGATCGAGACCCGACGC chr9:131065190-Variant-A;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Variant A gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GTCAACAACATC CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcAggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgtcaacaacatcAGATCGAGACCCGACGC chr9:131065190-Variant-A;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative C gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GCGTGTTGGCAT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgcgtgttggcatAGATCGAGACCCGACGC chr9:131065190-Alternative-C;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative C gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CGCGACGTTCTT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAcgcgacgttcttAGATCGAGACCCGACGC chr9:131065190-Alternative-C;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative C gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg CTTGATCAACGT CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAActtgatcaacgtAGATCGAGACCCGACGC chr9:131065190-Alternative-C;Patient-62 chr9:131065190-GA DeNovo Patient-62 intergenic 0.000287 0.000513 -0.03 2.25 0.33 DNM1 99526 Alternative C gcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcgg GAGCTCCGTATC CGACGCGGTCTCTCTCTgcggtattatagccgggcgcggtggctcacgcctgtaatcccagctactcCggaggctgaggtgggagaatcacttgaacccaggaggtggaggttgcggAGAGGGAGACGGACGTCTCAATAAgagctccgtatcAGATCGAGACCCGACGC chr9:131065190-Alternative-C;Patient-62 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Reference G ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CTGTGCGCAAGA CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAActgtgcgcaagaAGATCGAGACCCGACGC chr9:131644266-Reference-G;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Reference G ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg ACGTCACGTGGT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAacgtcacgtggtAGATCGAGACCCGACGC chr9:131644266-Reference-G;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative C ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CATCGGAAGGAT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAcatcggaaggatAGATCGAGACCCGACGC chr9:131644266-Alternative-C;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative C ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GATACGTCCGAC CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgatacgtccgacAGATCGAGACCCGACGC chr9:131644266-Alternative-C;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Reference G ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GAGTCACGATGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgagtcacgatggAGATCGAGACCCGACGC chr9:131644266-Reference-G;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Reference G ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CTTAAGTCGCTT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAActtaagtcgcttAGATCGAGACCCGACGC chr9:131644266-Reference-G;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Reference G ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CACTGTTATGCT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccGctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAcactgttatgctAGATCGAGACCCGACGC chr9:131644266-Reference-G;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative C ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg AGACGAACATTC CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAagacgaacattcAGATCGAGACCCGACGC chr9:131644266-Alternative-C;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Variant T ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg AGAGTCCTTCTT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAagagtccttcttAGATCGAGACCCGACGC chr9:131644266-Variant-T;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Variant T ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CTTAGTCGCCAC CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAActtagtcgccacAGATCGAGACCCGACGC chr9:131644266-Variant-T;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative C ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GACTGATCAAGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgactgatcaaggAGATCGAGACCCGACGC chr9:131644266-Alternative-C;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative C ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GACAATTACAGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccCctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgacaattacaggAGATCGAGACCCGACGC chr9:131644266-Alternative-C;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Variant T ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CTAATGTGTGGT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAActaatgtgtggtAGATCGAGACCCGACGC chr9:131644266-Variant-T;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Variant T ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg ACTATGTCGTGA CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAactatgtcgtgaAGATCGAGACCCGACGC chr9:131644266-Variant-T;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative A ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg AATGCGGCGTGT CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAaatgcggcgtgtAGATCGAGACCCGACGC chr9:131644266-Alternative-A;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative A ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg ACGTTCTCGTGC CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAacgttctcgtgcAGATCGAGACCCGACGC chr9:131644266-Alternative-A;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Variant T ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GGTGTACGCATC CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccTctacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAggtgtacgcatcAGATCGAGACCCGACGC chr9:131644266-Variant-T;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative A ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GTCGACTATCGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgtcgactatcggAGATCGAGACCCGACGC chr9:131644266-Alternative-A;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative A ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg CGAATTAACCGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAcgaattaaccggAGATCGAGACCCGACGC chr9:131644266-Alternative-A;Patient-60 chr9:131644266-GT Inherited Patient-60 5 prime UTR KYAT1 NA 0.00016 NA NA NA KYAT1 87 Alternative A ccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcggg GCAGTATCTCGG CGACGCGGTCTCTCTCTccgtaggttgcagcagtccctgtccctttaagggggccgagcccggctccActacttccgccccgaagcagcagggcgctagcgcggaggcgagagcgggAGAGGGAGACGGACGTCTCAATAAgcagtatctcggAGATCGAGACCCGACGC chr9:131644266-Alternative-A;Patient-60 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative C tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CTATGCTGACTT CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAActatgctgacttAGATCGAGACCCGACGC chr9:131756438-Alternative-C;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative C tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GCAACTGAGATA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAgcaactgagataAGATCGAGACCCGACGC chr9:131756438-Alternative-C;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative C tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GCCTTGACCACA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAgccttgaccacaAGATCGAGACCCGACGC chr9:131756438-Alternative-C;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative C tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GCGGAATGACCA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAgcggaatgaccaAGATCGAGACCCGACGC chr9:131756438-Alternative-C;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative T tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CGCGCAATATCG CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAcgcgcaatatcgAGATCGAGACCCGACGC chr9:131756438-Alternative-T;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative T tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GGCGTGTAACGA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAggcgtgtaacgaAGATCGAGACCCGACGC chr9:131756438-Alternative-T;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Reference A tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GGATGATAGAAG CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAggatgatagaagAGATCGAGACCCGACGC chr9:131756438-Reference-A;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Variant G tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CTTGGATGACCG CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAActtggatgaccgAGATCGAGACCCGACGC chr9:131756438-Variant-G;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Variant G tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt AACAAGACCAAC CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAaacaagaccaacAGATCGAGACCCGACGC chr9:131756438-Variant-G;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Variant G tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GGATAGGTACAT CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAggataggtacatAGATCGAGACCCGACGC chr9:131756438-Variant-G;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative C tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt ACCGACAGGAGA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgCtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAaccgacaggagaAGATCGAGACCCGACGC chr9:131756438-Alternative-C;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Reference A tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt ACGGCATAATGA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAacggcataatgaAGATCGAGACCCGACGC chr9:131756438-Reference-A;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative T tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt ACGTTGATGGAA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAacgttgatggaaAGATCGAGACCCGACGC chr9:131756438-Alternative-T;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Variant G tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GTAGATGCGCGA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAgtagatgcgcgaAGATCGAGACCCGACGC chr9:131756438-Variant-G;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Variant G tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt ATATGAACGGAC CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgGtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAatatgaacggacAGATCGAGACCCGACGC chr9:131756438-Variant-G;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Reference A tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CTCTGATTCGCG CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAActctgattcgcgAGATCGAGACCCGACGC chr9:131756438-Reference-A;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative T tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CAGATGGTTAGT CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAcagatggttagtAGATCGAGACCCGACGC chr9:131756438-Alternative-T;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Alternative T tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt CTAACGTATGCA CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgTtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAActaacgtatgcaAGATCGAGACCCGACGC chr9:131756438-Alternative-T;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Reference A tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt GGAGTCCATGCT CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAggagtccatgctAGATCGAGACCCGACGC chr9:131756438-Reference-A;Patient-65 chr9:131756438-AG Inherited Patient-65 intronic NUP188 0.00035 0.000841334 -0.35 0.26 -4.24 SH3GLB2 34140 Reference A tggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaatttt AGTCATGACCAC CGACGCGGTCTCTCTCTtggggcttttgggaatctacagtggaaggaatcttgaagagtttttattgAtcaactctataatgcataagtgtgattcatgagaggaaaatgtaattttAGAGGGAGACGGACGTCTCAATAAagtcatgaccacAGATCGAGACCCGACGC chr9:131756438-Reference-A;Patient-65 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Reference T gaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CATTACTTGTCG CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAcattacttgtcgAGATCGAGACCCGACGC chr9:13191303-Reference-T;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative A gaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctc ACGTGTAGCTAA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAacgtgtagctaaAGATCGAGACCCGACGC chr9:13191303-Alternative-A;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Reference T gaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AAGTCAGAATCG CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAaagtcagaatcgAGATCGAGACCCGACGC chr9:13191303-Reference-T;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Variant C gaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AGTTCGTTCACG CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAagttcgttcacgAGATCGAGACCCGACGC chr9:13191303-Variant-C;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Reference T gaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctc GATGGCTAATGT CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAgatggctaatgtAGATCGAGACCCGACGC chr9:13191303-Reference-T;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative A gaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctc GGCTCCGTTATA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAggctccgttataAGATCGAGACCCGACGC chr9:13191303-Alternative-A;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Variant C gaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CTCTTCGTCCTA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAActcttcgtcctaAGATCGAGACCCGACGC chr9:13191303-Variant-C;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Reference T gaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AACGCGCGTAAC CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAaacgcgcgtaacAGATCGAGACCCGACGC chr9:13191303-Reference-T;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative A gaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AATCGCGCATCG CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAaatcgcgcatcgAGATCGAGACCCGACGC chr9:13191303-Alternative-A;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative A gaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CGTATCTCTCAA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAcgtatctctcaaAGATCGAGACCCGACGC chr9:13191303-Alternative-A;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Variant C gaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AGGTTATCAGCT CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAaggttatcagctAGATCGAGACCCGACGC chr9:13191303-Variant-C;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Reference T gaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctc ACTAGTGACGAA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatTgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAactagtgacgaaAGATCGAGACCCGACGC chr9:13191303-Reference-T;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Variant C gaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AACACGATGAAC CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAaacacgatgaacAGATCGAGACCCGACGC chr9:13191303-Variant-C;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Variant C gaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctc GCGCATGTTACG CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatCgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAgcgcatgttacgAGATCGAGACCCGACGC chr9:13191303-Variant-C;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative G gaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctc GATAAGTCGTCT CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAgataagtcgtctAGATCGAGACCCGACGC chr9:13191303-Alternative-G;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative A gaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctc AGACGATCAACA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatAgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAagacgatcaacaAGATCGAGACCCGACGC chr9:13191303-Alternative-A;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative G gaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CGCCTAGGTATC CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAcgcctaggtatcAGATCGAGACCCGACGC chr9:13191303-Alternative-G;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative G gaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CAGAGCTAACCA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAcagagctaaccaAGATCGAGACCCGACGC chr9:13191303-Alternative-G;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative G gaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CAATAGGCTACA CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAAcaataggctacaAGATCGAGACCCGACGC chr9:13191303-Alternative-G;Patient-10 chr9:13191303-TC DeNovo Patient-10 intronic MPDZ NA 4.95e-05 0.23 6.29 2.6 MPDZ 88285 Alternative G gaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctc CTGTGCACAAGT CGACGCGGTCTCTCTCTgaatactaaactatgcattttattcttcaaaattttccaaattattccatGgtactgattcattcaatatactataaatcaaatcctaacatcatctctcAGAGGGAGACGGACGTCTCAATAActgtgcacaagtAGATCGAGACCCGACGC chr9:13191303-Alternative-G;Patient-10 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Reference G agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AGCGGACGTCTA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAagcggacgtctaAGATCGAGACCCGACGC chr9:132549486-Reference-G;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Reference G agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CGGCTTACTACG CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAcggcttactacgAGATCGAGACCCGACGC chr9:132549486-Reference-G;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative T agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AGCAGTGAACCT CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAagcagtgaacctAGATCGAGACCCGACGC chr9:132549486-Alternative-T;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Variant A agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CATTGTCGGTGG CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAcattgtcggtggAGATCGAGACCCGACGC chr9:132549486-Variant-A;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Reference G agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc GGTATGACCACA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAggtatgaccacaAGATCGAGACCCGACGC chr9:132549486-Reference-G;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative T agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc ATTCTCGCCATT CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAattctcgccattAGATCGAGACCCGACGC chr9:132549486-Alternative-T;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative T agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc ACGTACATCCAA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAacgtacatccaaAGATCGAGACCCGACGC chr9:132549486-Alternative-T;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Reference G agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CGGTATCGACAC CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAcggtatcgacacAGATCGAGACCCGACGC chr9:132549486-Reference-G;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Variant A agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AAGACGTACGGC CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAaagacgtacggcAGATCGAGACCCGACGC chr9:132549486-Variant-A;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Variant A agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc GTACAGTTGGTT CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAgtacagttggttAGATCGAGACCCGACGC chr9:132549486-Variant-A;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Variant A agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc ATCCTGGCGCTA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAatcctggcgctaAGATCGAGACCCGACGC chr9:132549486-Variant-A;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Reference G agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AGGTACGTCTAC CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcGtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAaggtacgtctacAGATCGAGACCCGACGC chr9:132549486-Reference-G;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative T agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CGCAAGCGCTAA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAcgcaagcgctaaAGATCGAGACCCGACGC chr9:132549486-Alternative-T;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative C agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc ACGCCTTATTGA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAacgccttattgaAGATCGAGACCCGACGC chr9:132549486-Alternative-C;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Variant A agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc GCAGTACAGTTA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcAtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAgcagtacagttaAGATCGAGACCCGACGC chr9:132549486-Variant-A;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative C agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc GTGGCTACTACG CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAgtggctactacgAGATCGAGACCCGACGC chr9:132549486-Alternative-C;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative T agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CGTGCTCGTAGA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcTtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAcgtgctcgtagaAGATCGAGACCCGACGC chr9:132549486-Alternative-T;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative C agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc CTATGATAGCGT CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAActatgatagcgtAGATCGAGACCCGACGC chr9:132549486-Alternative-C;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative C agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AACGCTTCGGCA CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAaacgcttcggcaAGATCGAGACCCGACGC chr9:132549486-Alternative-C;Patient-77 chr9:132549486-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA PTGES 34141 Alternative C agccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatccc AGGAACCTTGGT CGACGCGGTCTCTCTCTagccttgattgaaaataaatgacggccaaggtcacacagtctatagcggcCtggctgagcttcagaccggttattcccacgcccagtgcttggccatcccAGAGGGAGACGGACGTCTCAATAAaggaaccttggtAGATCGAGACCCGACGC chr9:132549486-Alternative-C;Patient-77 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Reference G tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GTATACTGCTTC CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgtatactgcttcAGATCGAGACCCGACGC chr9:133317825-Reference-G;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative T tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AATACGCGTTCA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAaatacgcgttcaAGATCGAGACCCGACGC chr9:133317825-Alternative-T;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Reference G tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GTCGAGTCGCTA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgtcgagtcgctaAGATCGAGACCCGACGC chr9:133317825-Reference-G;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Reference G tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AACTCCTATCGA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAaactcctatcgaAGATCGAGACCCGACGC chr9:133317825-Reference-G;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Reference G tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AATGGTTCGGCG CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAaatggttcggcgAGATCGAGACCCGACGC chr9:133317825-Reference-G;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Reference G tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AGAGCTCGTATT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcGgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagagctcgtattAGATCGAGACCCGACGC chr9:133317825-Reference-G;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative T tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AGTATCGCGAAT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagtatcgcgaatAGATCGAGACCCGACGC chr9:133317825-Alternative-T;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative T tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa CATTCAGCGATA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcattcagcgataAGATCGAGACCCGACGC chr9:133317825-Alternative-T;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative T tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GTCAAGTGTCTA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgtcaagtgtctaAGATCGAGACCCGACGC chr9:133317825-Alternative-T;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative T tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GCACCTCGTTGT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcTgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcacctcgttgtAGATCGAGACCCGACGC chr9:133317825-Alternative-T;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative C tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa ATCGCACGAATC CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAatcgcacgaatcAGATCGAGACCCGACGC chr9:133317825-Alternative-C;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative C tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa CGGTCGGTCATT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcggtcggtcattAGATCGAGACCCGACGC chr9:133317825-Alternative-C;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative C tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GGTTAAGAGGTT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAggttaagaggttAGATCGAGACCCGACGC chr9:133317825-Alternative-C;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative C tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AGATTCACTGCG CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagattcactgcgAGATCGAGACCCGACGC chr9:133317825-Alternative-C;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Variant A tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AGTTGGCGCACA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagttggcgcacaAGATCGAGACCCGACGC chr9:133317825-Variant-A;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Variant A tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa GCGTTCGACAGT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAgcgttcgacagtAGATCGAGACCCGACGC chr9:133317825-Variant-A;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Variant A tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa ACGTTGTGTTCT CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAacgttgtgttctAGATCGAGACCCGACGC chr9:133317825-Variant-A;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Alternative C tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa CGCGACAGTATA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcCgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcgcgacagtataAGATCGAGACCCGACGC chr9:133317825-Alternative-C;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Variant A tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa CACGAACTTCAA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAcacgaacttcaaAGATCGAGACCCGACGC chr9:133317825-Variant-A;Patient-30 chr9:133317825-GA Inherited Patient-30 intergenic 0.00016 0.000513 NA NA NA ASS1 2268 Variant A tgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaa AGCGCTCGTTCA CGACGCGGTCTCTCTCTtgttgttgggcacggtggctcacacctgtaatcccagcattttgggaggcAgaggtgggttgatcacctgaggtcaggagttcaagaccagcctggccaaAGAGGGAGACGGACGTCTCAATAAagcgctcgttcaAGATCGAGACCCGACGC chr9:133317825-Variant-A;Patient-30 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Reference G accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GGTATGTCACCG CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAggtatgtcaccgAGATCGAGACCCGACGC chr9:133872354-Reference-G;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative T accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGTGTTCGTACA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAagtgttcgtacaAGATCGAGACCCGACGC chr9:133872354-Alternative-T;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Variant A accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGGACCGTCGAA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAaggaccgtcgaaAGATCGAGACCCGACGC chr9:133872354-Variant-A;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative C accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GATAAGTCGTTC CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgataagtcgttcAGATCGAGACCCGACGC chr9:133872354-Alternative-C;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Reference G accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGCGGATTGAGA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAagcggattgagaAGATCGAGACCCGACGC chr9:133872354-Reference-G;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative T accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGCTTGATAGTC CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAagcttgatagtcAGATCGAGACCCGACGC chr9:133872354-Alternative-T;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative C accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GCACCAATTCTT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgcaccaattcttAGATCGAGACCCGACGC chr9:133872354-Alternative-C;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative C accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGGTGTCGGTTC CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAaggtgtcggttcAGATCGAGACCCGACGC chr9:133872354-Alternative-C;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative T accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AAGGCCGATTAT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAaaggccgattatAGATCGAGACCCGACGC chr9:133872354-Alternative-T;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative C accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GTTGTTGCTGAA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgttgttgctgaaAGATCGAGACCCGACGC chr9:133872354-Alternative-C;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Reference G accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GATTCGAGTAGA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgattcgagtagaAGATCGAGACCCGACGC chr9:133872354-Reference-G;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Variant A accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt CTCGTGGTCGTT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAActcgtggtcgttAGATCGAGACCCGACGC chr9:133872354-Variant-A;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative T accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GGACGTTCGGAA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAggacgttcggaaAGATCGAGACCCGACGC chr9:133872354-Alternative-T;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Reference G accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGTCGTAACGAA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAagtcgtaacgaaAGATCGAGACCCGACGC chr9:133872354-Reference-G;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Reference G accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GCATCGTTAAGA CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccGccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgcatcgttaagaAGATCGAGACCCGACGC chr9:133872354-Reference-G;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Variant A accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt GTAATCTCGGAT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAgtaatctcggatAGATCGAGACCCGACGC chr9:133872354-Variant-A;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Variant A accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt CGTCCTGACACT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAcgtcctgacactAGATCGAGACCCGACGC chr9:133872354-Variant-A;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative C accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt ACCTGTATTCGT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccCccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAacctgtattcgtAGATCGAGACCCGACGC chr9:133872354-Alternative-C;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Alternative T accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt AGCGGATTCGCT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccTccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAagcggattcgctAGATCGAGACCCGACGC chr9:133872354-Alternative-T;Patient-24 chr9:133872354-GA Inherited Patient-24 intergenic 0.000415 0.00256 -0.09 1.45 -2.76 LAMC3 12149 Variant A accaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagtt ACATCACGGATT CGACGCGGTCTCTCTCTaccaagccctgccagcttcatttctgtcccccttccaggccccctcgtccAccttgctcctctcactcgcctcccacctccccgcttggcacttgcagttAGAGGGAGACGGACGTCTCAATAAacatcacggattAGATCGAGACCCGACGC chr9:133872354-Variant-A;Patient-24 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative G ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcaca CGGCGATCAAGA CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAcggcgatcaagaAGATCGAGACCCGACGC chr9:133917600-Alternative-G;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative A ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcaca CACGATACAGTT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAcacgatacagttAGATCGAGACCCGACGC chr9:133917600-Alternative-A;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative A ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcaca ATCGTGCGGTGT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAatcgtgcggtgtAGATCGAGACCCGACGC chr9:133917600-Alternative-A;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Reference C ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcaca GATCCGACATAT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAgatccgacatatAGATCGAGACCCGACGC chr9:133917600-Reference-C;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative A ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcaca CGAGATGCAATC CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAcgagatgcaatcAGATCGAGACCCGACGC chr9:133917600-Alternative-A;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative G ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcaca GATCCGACCGAA CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAgatccgaccgaaAGATCGAGACCCGACGC chr9:133917600-Alternative-G;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative A ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcaca CTATATAGGCGT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAActatataggcgtAGATCGAGACCCGACGC chr9:133917600-Alternative-A;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative G ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcaca CAACACGGCAAT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAcaacacggcaatAGATCGAGACCCGACGC chr9:133917600-Alternative-G;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative G ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcaca ATCGCACGAAGG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAatcgcacgaaggAGATCGAGACCCGACGC chr9:133917600-Alternative-G;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Reference C ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcaca ACAATGTGGTCG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAacaatgtggtcgAGATCGAGACCCGACGC chr9:133917600-Reference-C;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative A ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcaca AATAACGTGCAG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaAgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAaataacgtgcagAGATCGAGACCCGACGC chr9:133917600-Alternative-A;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Reference C ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcaca GCAGGTACGAAC CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAgcaggtacgaacAGATCGAGACCCGACGC chr9:133917600-Reference-C;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Reference C ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcaca AATCGGTTACCT CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAaatcggttacctAGATCGAGACCCGACGC chr9:133917600-Reference-C;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Alternative G ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcaca ATCGACCTGTAA CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaGgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAatcgacctgtaaAGATCGAGACCCGACGC chr9:133917600-Alternative-G;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Variant T ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcaca CTATAGGTGCCG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAActataggtgccgAGATCGAGACCCGACGC chr9:133917600-Variant-T;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Reference C ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcaca GAGCCTTCGATA CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaCgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAgagccttcgataAGATCGAGACCCGACGC chr9:133917600-Reference-C;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Variant T ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcaca CGAACTGTGCAC CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAcgaactgtgcacAGATCGAGACCCGACGC chr9:133917600-Variant-T;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Variant T ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcaca GGCTATAGCGAG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAggctatagcgagAGATCGAGACCCGACGC chr9:133917600-Variant-T;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Variant T ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcaca AACAGCAAGGCG CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAaacagcaaggcgAGATCGAGACCCGACGC chr9:133917600-Variant-T;Patient-91 chr9:133917600-CT Inherited Patient-91 intronic LAMC3 3.2e-05 0.000148 -0.07 1.75 0.7 LAMC3 33095 Variant T ggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcaca GCATAAGTAGTC CGACGCGGTCTCTCTCTggcctcccgtttcacacccacagcagacatcactcatggagtattatcaaTgctcccctttcacacccatgacagacaccactaacggagcactatcacaAGAGGGAGACGGACGTCTCAATAAgcataagtagtcAGATCGAGACCCGACGC chr9:133917600-Variant-T;Patient-91 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative G gccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtg GTGAGACAGTAT CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAgtgagacagtatAGATCGAGACCCGACGC chr9:134034454-Alternative-G;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative G gccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtg ATTCGCCTAAGA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAattcgcctaagaAGATCGAGACCCGACGC chr9:134034454-Alternative-G;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative G gccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CTGCGTATCGCA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAActgcgtatcgcaAGATCGAGACCCGACGC chr9:134034454-Alternative-G;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative G gccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CAGTTGTATCCA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcagttgtatccaAGATCGAGACCCGACGC chr9:134034454-Alternative-G;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative G gccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtg GGTACTAGACGC CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttGatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAggtactagacgcAGATCGAGACCCGACGC chr9:134034454-Alternative-G;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Variant A gccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CACTGTTCCTAA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcactgttcctaaAGATCGAGACCCGACGC chr9:134034454-Variant-A;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Reference T gccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CACAATCGACCG CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcacaatcgaccgAGATCGAGACCCGACGC chr9:134034454-Reference-T;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Reference T gccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtg GATATGTATCGG CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAgatatgtatcggAGATCGAGACCCGACGC chr9:134034454-Reference-T;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Reference T gccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CACGTGAAGGAC CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcacgtgaaggacAGATCGAGACCCGACGC chr9:134034454-Reference-T;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Variant A gccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtg AGCAACGAGTCG CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAagcaacgagtcgAGATCGAGACCCGACGC chr9:134034454-Variant-A;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Reference T gccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CATCGTAGCCGT CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcatcgtagccgtAGATCGAGACCCGACGC chr9:134034454-Reference-T;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Variant A gccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtg ACGTCAATCCGA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAacgtcaatccgaAGATCGAGACCCGACGC chr9:134034454-Variant-A;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Reference T gccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtg AAGATGCCTCGT CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttTatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAaagatgcctcgtAGATCGAGACCCGACGC chr9:134034454-Reference-T;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Variant A gccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CGGCGATTCCAA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcggcgattccaaAGATCGAGACCCGACGC chr9:134034454-Variant-A;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative C gccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CGTAGGCTACGT CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAcgtaggctacgtAGATCGAGACCCGACGC chr9:134034454-Alternative-C;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative C gccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtg GAGCAGGTGTAC CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAgagcaggtgtacAGATCGAGACCCGACGC chr9:134034454-Alternative-C;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative C gccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtg AACGAATAGCGG CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAaacgaatagcggAGATCGAGACCCGACGC chr9:134034454-Alternative-C;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Variant A gccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtg GTTCAACGATCA CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttAatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAgttcaacgatcaAGATCGAGACCCGACGC chr9:134034454-Variant-A;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative C gccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtg ACGCGGTAGCAT CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAAacgcggtagcatAGATCGAGACCCGACGC chr9:134034454-Alternative-C;Patient-15 chr9:134034454-TA DeNovo Patient-15 intronic NUP214 NA 3.92e-05 0.2 5.86 0.96 NUP214 33505 Alternative C gccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtg CTAATTGCTGAG CGACGCGGTCTCTCTCTgccaccactcctggccaattttgtttttcattttaattataaagttttttCatgtaacttttttatttgtatacattattagagacagagtcttgctgtgAGAGGGAGACGGACGTCTCAATAActaattgctgagAGATCGAGACCCGACGC chr9:134034454-Alternative-C;Patient-15 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Reference A tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga AACGATGTTCAC CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAaacgatgttcacAGATCGAGACCCGACGC chr9:134622580-Reference-A;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Reference A tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GCGTTAGTGCGA CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAgcgttagtgcgaAGATCGAGACCCGACGC chr9:134622580-Reference-A;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative C tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga AACCAAGCGTCT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAaaccaagcgtctAGATCGAGACCCGACGC chr9:134622580-Alternative-C;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative C tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CAAGCGCATGAA CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAcaagcgcatgaaAGATCGAGACCCGACGC chr9:134622580-Alternative-C;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative C tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GACGAATCCGTC CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAgacgaatccgtcAGATCGAGACCCGACGC chr9:134622580-Alternative-C;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative C tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CGACGGTGTTGT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAcgacggtgttgtAGATCGAGACCCGACGC chr9:134622580-Alternative-C;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative C tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GGACCGTTCGAT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaCgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAggaccgttcgatAGATCGAGACCCGACGC chr9:134622580-Alternative-C;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Reference A tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CAGTATAGATCG CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAcagtatagatcgAGATCGAGACCCGACGC chr9:134622580-Reference-A;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Variant T tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GAGTTAGATTGC CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAgagttagattgcAGATCGAGACCCGACGC chr9:134622580-Variant-T;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Reference A tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga AATACCGGTTGT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAaataccggttgtAGATCGAGACCCGACGC chr9:134622580-Reference-A;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Variant T tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GTGAACAGTACA CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAgtgaacagtacaAGATCGAGACCCGACGC chr9:134622580-Variant-T;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Variant T tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga ACACGGCACAAG CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAacacggcacaagAGATCGAGACCCGACGC chr9:134622580-Variant-T;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Variant T tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CAAGGTCATGTT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAcaaggtcatgttAGATCGAGACCCGACGC chr9:134622580-Variant-T;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Variant T tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CTACGACTAGAT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaTgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAActacgactagatAGATCGAGACCCGACGC chr9:134622580-Variant-T;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Reference A tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GGATAGGCTCGA CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaAgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAggataggctcgaAGATCGAGACCCGACGC chr9:134622580-Reference-A;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative G tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga AGTGCTAGTACT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAagtgctagtactAGATCGAGACCCGACGC chr9:134622580-Alternative-G;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative G tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga ACCGAACGTCCT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAaccgaacgtcctAGATCGAGACCCGACGC chr9:134622580-Alternative-G;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative G tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga ATATGGCGGTGG CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAatatggcggtggAGATCGAGACCCGACGC chr9:134622580-Alternative-G;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative G tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga GGTCACCATGTT CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAAggtcaccatgttAGATCGAGACCCGACGC chr9:134622580-Alternative-G;Patient-88 chr9:134622580-AT DeNovo Patient-88 intergenic NA 0.000513 -0.01 2.45 0.36 RAPGEF1 9654 Alternative G tgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttagga CTCGTACGCAAG CGACGCGGTCTCTCTCTtgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaGgactaaggtaacctgggcatggcatacttgtagtcccagctacttaggaAGAGGGAGACGGACGTCTCAATAActcgtacgcaagAGATCGAGACCCGACGC chr9:134622580-Alternative-G;Patient-88 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative G ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGTGTATCGTAA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcgtgtatcgtaaAGATCGAGACCCGACGC chr9:134685899-Alternative-G;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative G ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg GGAGGATCAAGG CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAggaggatcaaggAGATCGAGACCCGACGC chr9:134685899-Alternative-G;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative G ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGTAAGTAGTGT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcgtaagtagtgtAGATCGAGACCCGACGC chr9:134685899-Alternative-G;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative G ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGGAGCACGTAA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcggagcacgtaaAGATCGAGACCCGACGC chr9:134685899-Alternative-G;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Variant T ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CTCTACGCCACT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAActctacgccactAGATCGAGACCCGACGC chr9:134685899-Variant-T;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Variant T ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg GTGCGAATTGAT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAgtgcgaattgatAGATCGAGACCCGACGC chr9:134685899-Variant-T;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative G ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGAGATAGGAAC CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctGgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcgagataggaacAGATCGAGACCCGACGC chr9:134685899-Alternative-G;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Variant T ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg ATAGGATAGCGT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAataggatagcgtAGATCGAGACCCGACGC chr9:134685899-Variant-T;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Variant T ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGGTCAATCTTA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcggtcaatcttaAGATCGAGACCCGACGC chr9:134685899-Variant-T;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Reference C ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg GACATGTGAACA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAgacatgtgaacaAGATCGAGACCCGACGC chr9:134685899-Reference-C;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Reference C ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg ATCGAGCATAGT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAatcgagcatagtAGATCGAGACCCGACGC chr9:134685899-Reference-C;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Reference C ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CAGCTTGCTACC CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcagcttgctaccAGATCGAGACCCGACGC chr9:134685899-Reference-C;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Reference C ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGAGCAAGTACA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcgagcaagtacaAGATCGAGACCCGACGC chr9:134685899-Reference-C;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative A ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CAACACGGAATA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcaacacggaataAGATCGAGACCCGACGC chr9:134685899-Alternative-A;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative A ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CATCGTCGGCTA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcatcgtcggctaAGATCGAGACCCGACGC chr9:134685899-Alternative-A;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative A ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg AATGCGTAGCAA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAaatgcgtagcaaAGATCGAGACCCGACGC chr9:134685899-Alternative-A;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Reference C ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg AAGCGCAAGCCA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctCgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAaagcgcaagccaAGATCGAGACCCGACGC chr9:134685899-Reference-C;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Variant T ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg GGTGTTAAGTCA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctTgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAggtgttaagtcaAGATCGAGACCCGACGC chr9:134685899-Variant-T;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative A ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg CGACGGTTGACT CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAcgacggttgactAGATCGAGACCCGACGC chr9:134685899-Alternative-A;Patient-110 chr9:134685899-CT Inherited Patient-110 intergenic NA 3.98e-05 -0.37 0.23 -7.54 RAPGEF1 72973 Alternative A ggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcg AACGCTCGATTA CGACGCGGTCTCTCTCTggggaaactcagcttgaccgggatgtctcccccgcggtgctccaggccctAgaggactcagtgctgaccgtacctggaatgaatgaacatgtgccaggcgAGAGGGAGACGGACGTCTCAATAAaacgctcgattaAGATCGAGACCCGACGC chr9:134685899-Alternative-A;Patient-110 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative G gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa GGTGGTCTTGAA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAggtggtcttgaaAGATCGAGACCCGACGC chr9:134864274-Alternative-G;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative G gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CTCGTTCCAATA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAActcgttccaataAGATCGAGACCCGACGC chr9:134864274-Alternative-G;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative G gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CTAACCGCTGAG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAActaaccgctgagAGATCGAGACCCGACGC chr9:134864274-Alternative-G;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative T gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AACCAACGATGT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAaaccaacgatgtAGATCGAGACCCGACGC chr9:134864274-Alternative-T;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative G gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa GATAGAGGTTCA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAgatagaggttcaAGATCGAGACCCGACGC chr9:134864274-Alternative-G;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative T gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa ACGCTCGTATCG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAacgctcgtatcgAGATCGAGACCCGACGC chr9:134864274-Alternative-T;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative T gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa GGCGGTGTAGTT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAggcggtgtagttAGATCGAGACCCGACGC chr9:134864274-Alternative-T;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative T gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa GAGATAATCACG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAgagataatcacgAGATCGAGACCCGACGC chr9:134864274-Alternative-T;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative T gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AATATGCGATCG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgTcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAaatatgcgatcgAGATCGAGACCCGACGC chr9:134864274-Alternative-T;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Alternative G gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AGCGGACTGGAT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgGcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAagcggactggatAGATCGAGACCCGACGC chr9:134864274-Alternative-G;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Variant A gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AGCCGGATGCTA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAagccggatgctaAGATCGAGACCCGACGC chr9:134864274-Variant-A;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Variant A gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa GTGACGCTTCCT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAgtgacgcttcctAGATCGAGACCCGACGC chr9:134864274-Variant-A;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Variant A gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CAATGATGGTCA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAcaatgatggtcaAGATCGAGACCCGACGC chr9:134864274-Variant-A;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Reference C gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CGTAGTACCTGG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAcgtagtacctggAGATCGAGACCCGACGC chr9:134864274-Reference-C;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Variant A gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa ACATCAGGTCAT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAacatcaggtcatAGATCGAGACCCGACGC chr9:134864274-Variant-A;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Reference C gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AGTCGCCTACAG CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAagtcgcctacagAGATCGAGACCCGACGC chr9:134864274-Reference-C;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Reference C gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa ACGGCACGTTGT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAacggcacgttgtAGATCGAGACCCGACGC chr9:134864274-Reference-C;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Variant A gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CGTAAGGATCCA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgAcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAcgtaaggatccaAGATCGAGACCCGACGC chr9:134864274-Variant-A;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Reference C gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa AGTTGTAGGCTA CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAagttgtaggctaAGATCGAGACCCGACGC chr9:134864274-Reference-C;Patient-19 chr9:134864274-CA DeNovo Patient-19 intronic MED27 3.2e-05 0.000148 -0.25 0.51 0 MED27 90999 Reference C gcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaa CATTGTCGTCAT CGACGCGGTCTCTCTCTgcagttaaatttgtgggaagttaaaagttacatgtggatttttggctgcgCcgagggtgaacaacccctgcattgttcaaagatcaactgtactttacaaAGAGGGAGACGGACGTCTCAATAAcattgtcgtcatAGATCGAGACCCGACGC chr9:134864274-Reference-C;Patient-19 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Reference A aaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc GGTGGTACGAGT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAggtggtacgagtAGATCGAGACCCGACGC chr9:135178253-Reference-A;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative T aaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc ACCACATGGTAC CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAaccacatggtacAGATCGAGACCCGACGC chr9:135178253-Alternative-T;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative T aaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc AACTAACGCCGT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAaactaacgccgtAGATCGAGACCCGACGC chr9:135178253-Alternative-T;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative C aaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CGGACCTAGCAA CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcggacctagcaaAGATCGAGACCCGACGC chr9:135178253-Alternative-C;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative T aaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CAGACGTTAACG CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcagacgttaacgAGATCGAGACCCGACGC chr9:135178253-Alternative-T;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative C aaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CAGATTGACTTC CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcagattgacttcAGATCGAGACCCGACGC chr9:135178253-Alternative-C;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Reference A aaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc ACTCTAACTACC CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAactctaactaccAGATCGAGACCCGACGC chr9:135178253-Reference-A;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative C aaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CTAATACGCCGA CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAActaatacgccgaAGATCGAGACCCGACGC chr9:135178253-Alternative-C;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative C aaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc AGGAGGACACTT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAaggaggacacttAGATCGAGACCCGACGC chr9:135178253-Alternative-C;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative T aaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc ATTATCCTGGAG CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAattatcctggagAGATCGAGACCCGACGC chr9:135178253-Alternative-T;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Reference A aaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CGTATAAGACGA CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcgtataagacgaAGATCGAGACCCGACGC chr9:135178253-Reference-A;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Reference A aaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc ATTCCATGGCCG CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAattccatggccgAGATCGAGACCCGACGC chr9:135178253-Reference-A;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Variant G aaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc AAGGCGTGATTA CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAaaggcgtgattaAGATCGAGACCCGACGC chr9:135178253-Variant-G;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Reference A aaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CTGAGGACTTCG CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataAagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAActgaggacttcgAGATCGAGACCCGACGC chr9:135178253-Reference-A;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Variant G aaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc ACTCATAGCCAA CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAactcatagccaaAGATCGAGACCCGACGC chr9:135178253-Variant-G;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Variant G aaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CTAGATCGGCAG CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAActagatcggcagAGATCGAGACCCGACGC chr9:135178253-Variant-G;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative C aaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc GGCTCATGGTGT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataCagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAggctcatggtgtAGATCGAGACCCGACGC chr9:135178253-Alternative-C;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Alternative T aaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CGTAGCTATTCT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataTagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcgtagctattctAGATCGAGACCCGACGC chr9:135178253-Alternative-T;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Variant G aaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc GACTGTGCGTCT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAgactgtgcgtctAGATCGAGACCCGACGC chr9:135178253-Variant-G;Patient-105 chr9:135178253-AG DeNovo Patient-105 intronic SETX NA 3.85e-05 0.16 5.21 0.11 SETX 52118 Variant G aaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattc CGGACAAGAGGT CGACGCGGTCTCTCTCTaaaacaacaataagagactgtggtattggtggaaggcagctatacagataGagaaaacggtgtttaaaagcagacctgcaatcaagatcaactgatattcAGAGGGAGACGGACGTCTCAATAAcggacaagaggtAGATCGAGACCCGACGC chr9:135178253-Variant-G;Patient-105 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Reference G gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GTGAATCGGTAA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgtgaatcggtaaAGATCGAGACCCGACGC chr9:135797129-Reference-G;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Reference G gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta AGCACGAACGAG CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAagcacgaacgagAGATCGAGACCCGACGC chr9:135797129-Reference-G;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Reference G gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GGTGATATGAAC CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAggtgatatgaacAGATCGAGACCCGACGC chr9:135797129-Reference-G;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative C gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CAATGCGCAGTC CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAcaatgcgcagtcAGATCGAGACCCGACGC chr9:135797129-Alternative-C;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Reference G gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CTCGGTCGTTGT CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAActcggtcgttgtAGATCGAGACCCGACGC chr9:135797129-Reference-G;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative T gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GATGGCTCGACT CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgatggctcgactAGATCGAGACCCGACGC chr9:135797129-Alternative-T;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Reference G gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GCGAATCCTCAA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccGttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgcgaatcctcaaAGATCGAGACCCGACGC chr9:135797129-Reference-G;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative T gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GCCTGCGTAAGA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgcctgcgtaagaAGATCGAGACCCGACGC chr9:135797129-Alternative-T;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative T gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CTGCTGTAACTT CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAActgctgtaacttAGATCGAGACCCGACGC chr9:135797129-Alternative-T;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Variant A gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CAGTTGCTCGCT CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAcagttgctcgctAGATCGAGACCCGACGC chr9:135797129-Variant-A;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative T gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CGAACGGTACAC CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAcgaacggtacacAGATCGAGACCCGACGC chr9:135797129-Alternative-T;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative C gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta AATCTCAGCACA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAaatctcagcacaAGATCGAGACCCGACGC chr9:135797129-Alternative-C;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative C gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GTCATAGATAGG CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgtcatagataggAGATCGAGACCCGACGC chr9:135797129-Alternative-C;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Variant A gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CTTATTGGTTCG CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAActtattggttcgAGATCGAGACCCGACGC chr9:135797129-Variant-A;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative C gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta ACATCGGCTTAA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAacatcggcttaaAGATCGAGACCCGACGC chr9:135797129-Alternative-C;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative T gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GTAGCGGTATCA CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccTttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgtagcggtatcaAGATCGAGACCCGACGC chr9:135797129-Alternative-T;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Variant A gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CGTTACCATGTT CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAcgttaccatgttAGATCGAGACCCGACGC chr9:135797129-Variant-A;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Variant A gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GTTAGCCTAACG CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgttagcctaacgAGATCGAGACCCGACGC chr9:135797129-Variant-A;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Alternative C gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta GTTGTTGCGTCC CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccCttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAAgttgttgcgtccAGATCGAGACCCGACGC chr9:135797129-Alternative-C;Patient-36 chr9:135797129-GA DeNovo Patient-36 intronic TSC1 0.000127 0.000148 -0.09 1.52 -1.68 TSC1 22890 Variant A gagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagta CTACGCAACGAC CGACGCGGTCTCTCTCTgagtggcgaggaagaaaactgaatttcttttcaaaatttccctgtctgccAttaaatacaaaaggtataaatgcagcctatctaaacagtatactaagtaAGAGGGAGACGGACGTCTCAATAActacgcaacgacAGATCGAGACCCGACGC chr9:135797129-Variant-A;Patient-36 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative G ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CTTATTCCGCGG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAActtattccgcggAGATCGAGACCCGACGC chr9:136906269-Alternative-G;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Variant T ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatct AGGACGATTCAA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAaggacgattcaaAGATCGAGACCCGACGC chr9:136906269-Variant-T;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Variant T ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CGTGCTATCGAC CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcgtgctatcgacAGATCGAGACCCGACGC chr9:136906269-Variant-T;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Variant T ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatct ACGGTCATCTAA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAacggtcatctaaAGATCGAGACCCGACGC chr9:136906269-Variant-T;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Variant T ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatct ATCTGGTCTATC CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAatctggtctatcAGATCGAGACCCGACGC chr9:136906269-Variant-T;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative G ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CTGTTCGATTCA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAActgttcgattcaAGATCGAGACCCGACGC chr9:136906269-Alternative-G;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative G ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GTTCCGACAACG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgttccgacaacgAGATCGAGACCCGACGC chr9:136906269-Alternative-G;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Variant T ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GACGAACGTAAG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaTagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgacgaacgtaagAGATCGAGACCCGACGC chr9:136906269-Variant-T;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative G ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CGTAGCGAATCA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcgtagcgaatcaAGATCGAGACCCGACGC chr9:136906269-Alternative-G;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative A ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CTAGCGATCGAC CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAActagcgatcgacAGATCGAGACCCGACGC chr9:136906269-Alternative-A;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative A ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GATGGTACAAGG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgatggtacaaggAGATCGAGACCCGACGC chr9:136906269-Alternative-A;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative G ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GATCATCGAGAA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaGagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgatcatcgagaaAGATCGAGACCCGACGC chr9:136906269-Alternative-G;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative A ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CAACCACAAGCG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcaaccacaagcgAGATCGAGACCCGACGC chr9:136906269-Alternative-A;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative A ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CAGCTCGCTCTA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcagctcgctctaAGATCGAGACCCGACGC chr9:136906269-Alternative-A;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Reference C ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CTGTCGCGTATC CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAActgtcgcgtatcAGATCGAGACCCGACGC chr9:136906269-Reference-C;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Alternative A ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CGGCGTGTTCAA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaAagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcggcgtgttcaaAGATCGAGACCCGACGC chr9:136906269-Alternative-A;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Reference C ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GAATGTGCCAGA CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgaatgtgccagaAGATCGAGACCCGACGC chr9:136906269-Reference-C;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Reference C ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CGAATCACGTCG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcgaatcacgtcgAGATCGAGACCCGACGC chr9:136906269-Reference-C;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Reference C ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatct GTGACGCTTACG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAgtgacgcttacgAGATCGAGACCCGACGC chr9:136906269-Reference-C;Patient-79 chr9:136906269-CT DeNovo Patient-79 intronic BRD3 NA 4.95e-05 -0.07 1.66 -2.49 BRD3 26871 Reference C ccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatct CAGGAGATTCGG CGACGCGGTCTCTCTCTccatcgctgtccttgcagccctgattcatgctgttcccctcctgactcgaCagccctgctctattttctcccaatctggggtcccagaaatcatgcatctAGAGGGAGACGGACGTCTCAATAAcaggagattcggAGATCGAGACCCGACGC chr9:136906269-Reference-C;Patient-79 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Variant C ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GTCGATAACGTT CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgtcgataacgttAGATCGAGACCCGACGC chr9:137559012-Variant-C;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Variant C ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GTTCCGTATGAA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgttccgtatgaaAGATCGAGACCCGACGC chr9:137559012-Variant-C;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Variant C ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg CTGGCCGTACTA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAActggccgtactaAGATCGAGACCCGACGC chr9:137559012-Variant-C;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative T ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg ACACGAGCATGC CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAacacgagcatgcAGATCGAGACCCGACGC chr9:137559012-Alternative-T;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative G ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg CGCAAGATTCCT CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAcgcaagattcctAGATCGAGACCCGACGC chr9:137559012-Alternative-G;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Reference A ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GCGTAGTGCTTC CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgcgtagtgcttcAGATCGAGACCCGACGC chr9:137559012-Reference-A;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative G ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GGTCAACTTCTT CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAggtcaacttcttAGATCGAGACCCGACGC chr9:137559012-Alternative-G;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative G ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg ATAGCTGACTGA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAatagctgactgaAGATCGAGACCCGACGC chr9:137559012-Alternative-G;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Reference A ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg AGCAAGATTGAG CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAagcaagattgagAGATCGAGACCCGACGC chr9:137559012-Reference-A;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative T ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg CAGTACGCAGTC CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAcagtacgcagtcAGATCGAGACCCGACGC chr9:137559012-Alternative-T;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative G ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg CTCGCCACCATA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAActcgccaccataAGATCGAGACCCGACGC chr9:137559012-Alternative-G;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Variant C ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg AGTCGTATGAGA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAagtcgtatgagaAGATCGAGACCCGACGC chr9:137559012-Variant-C;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative G ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GATACCGCGCAA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacGgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgataccgcgcaaAGATCGAGACCCGACGC chr9:137559012-Alternative-G;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative T ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg AAGATCGTTACG CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAaagatcgttacgAGATCGAGACCCGACGC chr9:137559012-Alternative-T;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Reference A ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GTAGTAGTGTGA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgtagtagtgtgaAGATCGAGACCCGACGC chr9:137559012-Reference-A;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Variant C ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg ACCTCGGTAGCA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacCgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAacctcggtagcaAGATCGAGACCCGACGC chr9:137559012-Variant-C;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative T ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg ACAATGGACGTT CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAacaatggacgttAGATCGAGACCCGACGC chr9:137559012-Alternative-T;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Alternative T ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg GCAGTTCTGCGA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacTgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAgcagttctgcgaAGATCGAGACCCGACGC chr9:137559012-Alternative-T;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Reference A ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg AGATGTACCGAT CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAagatgtaccgatAGATCGAGACCCGACGC chr9:137559012-Reference-A;Patient-16 chr9:137559012-AC DeNovo Patient-16 intronic COL5A1 NA 4.95e-05 -0.14 1.06 -2.35 COL5A1 25360 Reference A ctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtg ATAGGATGCGAA CGACGCGGTCTCTCTCTctgagagctgggaccttggatctagctgcttatggtgactttcccagcacAgaacttctgtgggctcagtgcctgtcctgttatttgatgttcacccgtgAGAGGGAGACGGACGTCTCAATAAataggatgcgaaAGATCGAGACCCGACGC chr9:137559012-Reference-A;Patient-16 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative T ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GGACTTCATACT CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAggacttcatactAGATCGAGACCCGACGC chr9:137987555-Alternative-T;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative T ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CTTGTTGCGTTA CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAActtgttgcgttaAGATCGAGACCCGACGC chr9:137987555-Alternative-T;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Variant A ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CATCGCTCCAGT CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcatcgctccagtAGATCGAGACCCGACGC chr9:137987555-Variant-A;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative T ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GTTGAGAACGTT CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAgttgagaacgttAGATCGAGACCCGACGC chr9:137987555-Alternative-T;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative T ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc AATCGTTCGAAC CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAaatcgttcgaacAGATCGAGACCCGACGC chr9:137987555-Alternative-T;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Variant A ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CGACTACAACAC CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcgactacaacacAGATCGAGACCCGACGC chr9:137987555-Variant-A;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Variant A ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CACGTAGCTACG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcacgtagctacgAGATCGAGACCCGACGC chr9:137987555-Variant-A;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Variant A ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc ACTCCACGTTCG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAactccacgttcgAGATCGAGACCCGACGC chr9:137987555-Variant-A;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative T ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GGTATTACGTAC CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgTgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAggtattacgtacAGATCGAGACCCGACGC chr9:137987555-Alternative-T;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Variant A ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GATAGTCGCCAC CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgAgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAgatagtcgccacAGATCGAGACCCGACGC chr9:137987555-Variant-A;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative G ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CGCTAACGCAAT CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcgctaacgcaatAGATCGAGACCCGACGC chr9:137987555-Alternative-G;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Reference C ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GAGTAATCGAGT CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAgagtaatcgagtAGATCGAGACCCGACGC chr9:137987555-Reference-C;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative G ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GGTAGCTCGCTA CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAggtagctcgctaAGATCGAGACCCGACGC chr9:137987555-Alternative-G;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Reference C ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CAAGTTGGACGG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcaagttggacggAGATCGAGACCCGACGC chr9:137987555-Reference-C;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Reference C ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc AAGACTACCATC CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAaagactaccatcAGATCGAGACCCGACGC chr9:137987555-Reference-C;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Reference C ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GGTTGCGGTCAA CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAggttgcggtcaaAGATCGAGACCCGACGC chr9:137987555-Reference-C;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Reference C ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc GACGAACATGAG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgCgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAgacgaacatgagAGATCGAGACCCGACGC chr9:137987555-Reference-C;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative G ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc CGAATCGACACG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAcgaatcgacacgAGATCGAGACCCGACGC chr9:137987555-Alternative-G;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative G ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc ATTATCGTCGAG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAattatcgtcgagAGATCGAGACCCGACGC chr9:137987555-Alternative-G;Patient-54 chr9:137987555-CA DeNovo Patient-54 intronic OLFM1 NA 4.95e-05 -0.24 0.54 -9.01 OLFM1 20465 Alternative G ttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttccc ATAGCTCGCAAG CGACGCGGTCTCTCTCTttacccaaccaatttgctgtgtttggggagttatcagtcctcacagtccgGgatgctggcgattaccttgtaaataatgcatgggccacttctggttcccAGAGGGAGACGGACGTCTCAATAAatagctcgcaagAGATCGAGACCCGACGC chr9:137987555-Alternative-G;Patient-54 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative C caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AACGCTCCAATA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaacgctccaataAGATCGAGACCCGACGC chr9:138406292-Alternative-C;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Reference G caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CGATCCAGGATA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAcgatccaggataAGATCGAGACCCGACGC chr9:138406292-Reference-G;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative C caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AGATAATCGACG CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAagataatcgacgAGATCGAGACCCGACGC chr9:138406292-Alternative-C;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative C caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AGGTGCGGACTT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaggtgcggacttAGATCGAGACCCGACGC chr9:138406292-Alternative-C;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Reference G caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg GGTTCGCGTGAA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAggttcgcgtgaaAGATCGAGACCCGACGC chr9:138406292-Reference-G;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative T caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AGGACCGACCTA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaggaccgacctaAGATCGAGACCCGACGC chr9:138406292-Alternative-T;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative T caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AAGTGCGACTAA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaagtgcgactaaAGATCGAGACCCGACGC chr9:138406292-Alternative-T;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Reference G caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg ATTCATATGCGC CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAattcatatgcgcAGATCGAGACCCGACGC chr9:138406292-Reference-G;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative T caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CTTATATGCGCA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAActtatatgcgcaAGATCGAGACCCGACGC chr9:138406292-Alternative-T;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative T caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CTGGCAAGTAGG CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAActggcaagtaggAGATCGAGACCCGACGC chr9:138406292-Alternative-T;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Reference G caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg ACCGGTATATGT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaccggtatatgtAGATCGAGACCCGACGC chr9:138406292-Reference-G;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Reference G caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg GGACAGATCAAT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccGtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAggacagatcaatAGATCGAGACCCGACGC chr9:138406292-Reference-G;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative C caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CAAGATCCGTCA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAcaagatccgtcaAGATCGAGACCCGACGC chr9:138406292-Alternative-C;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Variant A caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CGGAATAACAAC CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAcggaataacaacAGATCGAGACCCGACGC chr9:138406292-Variant-A;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Variant A caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CTCTCTGCGGTT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAActctctgcggttAGATCGAGACCCGACGC chr9:138406292-Variant-A;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Variant A caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg GTAGCGAATTGT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAgtagcgaattgtAGATCGAGACCCGACGC chr9:138406292-Variant-A;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative T caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg GGTGGAGATTCG CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccTtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAggtggagattcgAGATCGAGACCCGACGC chr9:138406292-Alternative-T;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Variant A caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CGCGTCATGTGA CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAcgcgtcatgtgaAGATCGAGACCCGACGC chr9:138406292-Variant-A;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Variant A caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg CGGAATCGTATT CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccAtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAcggaatcgtattAGATCGAGACCCGACGC chr9:138406292-Variant-A;Patient-77 chr9:138406292-GA DeNovo Patient-77 intergenic 3.2e-05 0.000512821 NA NA NA MRPS2 13814 Alternative C caaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaagg AAGTCGCAATCG CGACGCGGTCTCTCTCTcaaagcaggagttaaagtcctcagcagcgcttgggtgtgtggtggggtccCtgatggatgctgaaaccgtgggcttcaaaggccaacacagtagggaaggAGAGGGAGACGGACGTCTCAATAAaagtcgcaatcgAGATCGAGACCCGACGC chr9:138406292-Alternative-C;Patient-77 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative A gctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc ACGGCTACGCAT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAacggctacgcatAGATCGAGACCCGACGC chr9:139015330-Alternative-A;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative A gctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc AAGTTACCGGCG CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAaagttaccggcgAGATCGAGACCCGACGC chr9:139015330-Alternative-A;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Variant T gctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc GTCGTTCTTCAA CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAgtcgttcttcaaAGATCGAGACCCGACGC chr9:139015330-Variant-T;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Variant T gctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CGCCATCAACAC CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcgccatcaacacAGATCGAGACCCGACGC chr9:139015330-Variant-T;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Variant T gctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CATTCGACGAAT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcattcgacgaatAGATCGAGACCCGACGC chr9:139015330-Variant-T;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Variant T gctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CTCACCGCGTAA CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAActcaccgcgtaaAGATCGAGACCCGACGC chr9:139015330-Variant-T;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Variant T gctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc GTGCTAGGTCGT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaTttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAgtgctaggtcgtAGATCGAGACCCGACGC chr9:139015330-Variant-T;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative G gctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CATTACGGATGG CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcattacggatggAGATCGAGACCCGACGC chr9:139015330-Alternative-G;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative G gctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc ACGCAGTTACAC CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAacgcagttacacAGATCGAGACCCGACGC chr9:139015330-Alternative-G;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative G gctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc ACTAACGGATGA CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAactaacggatgaAGATCGAGACCCGACGC chr9:139015330-Alternative-G;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative G gctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc AGAACGATCGAC CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAagaacgatcgacAGATCGAGACCCGACGC chr9:139015330-Alternative-G;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative G gctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CTAAGGTCGTAC CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaGttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAActaaggtcgtacAGATCGAGACCCGACGC chr9:139015330-Alternative-G;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative A gctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CACATCGAGCGT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcacatcgagcgtAGATCGAGACCCGACGC chr9:139015330-Alternative-A;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Reference C gctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CATAAGGATACG CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcataaggatacgAGATCGAGACCCGACGC chr9:139015330-Reference-C;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Reference C gctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc GCAACCAACCGT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAgcaaccaaccgtAGATCGAGACCCGACGC chr9:139015330-Reference-C;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Reference C gctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc AGTGTACCTGAT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAagtgtacctgatAGATCGAGACCCGACGC chr9:139015330-Reference-C;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative A gctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc GATGTGCGGCTT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAgatgtgcggcttAGATCGAGACCCGACGC chr9:139015330-Alternative-A;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Reference C gctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CAGACGTAGACG CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcagacgtagacgAGATCGAGACCCGACGC chr9:139015330-Reference-C;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Alternative A gctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CGGAGTATTCAC CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaAttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAAcggagtattcacAGATCGAGACCCGACGC chr9:139015330-Alternative-A;Patient-30 chr9:139015330-CT Inherited Patient-30 intergenic 0.00051 0.00016 NA NA NA LHX3 81624 Reference C gctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggcc CTGCGACTTATT CGACGCGGTCTCTCTCTgctgggggccaaggatggggtcactgtggggactttatccagctggttgaCttcagggtcctggcagggagtggctcttgctgccaggacagtagaggccAGAGGGAGACGGACGTCTCAATAActgcgacttattAGATCGAGACCCGACGC chr9:139015330-Reference-C;Patient-30 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative C gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GCCGTACCAAGA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgccgtaccaagaAGATCGAGACCCGACGC chr9:139083070-Alternative-C;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative C gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga ACGTAACGTTCA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAacgtaacgttcaAGATCGAGACCCGACGC chr9:139083070-Alternative-C;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Variant A gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GCATCAGGATAA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgcatcaggataaAGATCGAGACCCGACGC chr9:139083070-Variant-A;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Reference G gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GGAATTATAGCG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAggaattatagcgAGATCGAGACCCGACGC chr9:139083070-Reference-G;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative C gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GAAGATACGCCA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgaagatacgccaAGATCGAGACCCGACGC chr9:139083070-Alternative-C;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Reference G gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GCGAACTCTGAG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgcgaactctgagAGATCGAGACCCGACGC chr9:139083070-Reference-G;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative T gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga CGAGCGACAATT CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAcgagcgacaattAGATCGAGACCCGACGC chr9:139083070-Alternative-T;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Reference G gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga AGACGCTCCATA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAagacgctccataAGATCGAGACCCGACGC chr9:139083070-Reference-G;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative T gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga AAGGAATGACGA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAaaggaatgacgaAGATCGAGACCCGACGC chr9:139083070-Alternative-T;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Reference G gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga AGGACGACCAAC CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAaggacgaccaacAGATCGAGACCCGACGC chr9:139083070-Reference-G;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Reference G gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga CGTCAGATTCTA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcGtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAcgtcagattctaAGATCGAGACCCGACGC chr9:139083070-Reference-G;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative C gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga ACGATCCAAGAA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAacgatccaagaaAGATCGAGACCCGACGC chr9:139083070-Alternative-C;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Variant A gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GCATACTCGTAA CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgcatactcgtaaAGATCGAGACCCGACGC chr9:139083070-Variant-A;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative T gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GTACTTAGGTGT CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAgtacttaggtgtAGATCGAGACCCGACGC chr9:139083070-Alternative-T;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative T gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga AGGTGTTCCAAG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAaggtgttccaagAGATCGAGACCCGACGC chr9:139083070-Alternative-T;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Variant A gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga AGGCTCATAACT CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAaggctcataactAGATCGAGACCCGACGC chr9:139083070-Variant-A;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative T gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga GGACCGGTTAAG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcTtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAggaccggttaagAGATCGAGACCCGACGC chr9:139083070-Alternative-T;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Alternative C gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga ATCATCACATGG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcCtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAatcatcacatggAGATCGAGACCCGACGC chr9:139083070-Alternative-C;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Variant A gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga CGGTGTCTAATT CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAcggtgtctaattAGATCGAGACCCGACGC chr9:139083070-Variant-A;Patient-81 chr9:139083070-GA DeNovo Patient-81 intergenic 0.000159 0.00205 -0.01 2.42 0.24 LHX3 13884 Variant A gtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttgga CAAGACGTCAAG CGACGCGGTCTCTCTCTgtctagttccaatccaaccaccacctcccgcacttacgctctgggagagcAtgggggatgtttgtgtgtgtaccgtgcagtgggtgtgtgacctcttggaAGAGGGAGACGGACGTCTCAATAAcaagacgtcaagAGATCGAGACCCGACGC chr9:139083070-Variant-A;Patient-81 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Reference G tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CTGCGTTGTAAT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAActgcgttgtaatAGATCGAGACCCGACGC chr9:139540433-Reference-G;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative T tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg ACGTGGCGCTAT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAacgtggcgctatAGATCGAGACCCGACGC chr9:139540433-Alternative-T;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Reference G tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CACGGATGTTCG CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAcacggatgttcgAGATCGAGACCCGACGC chr9:139540433-Reference-G;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Reference G tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GAGCTCTCTTCG CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAgagctctcttcgAGATCGAGACCCGACGC chr9:139540433-Reference-G;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Reference G tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GGTTCCACGTTA CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAggttccacgttaAGATCGAGACCCGACGC chr9:139540433-Reference-G;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Reference G tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GGACGAGAATAA CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccGcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAggacgagaataaAGATCGAGACCCGACGC chr9:139540433-Reference-G;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Variant A tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GGTTCTGGTACA CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAggttctggtacaAGATCGAGACCCGACGC chr9:139540433-Variant-A;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative C tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GTGACGACCGTT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAgtgacgaccgttAGATCGAGACCCGACGC chr9:139540433-Alternative-C;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Variant A tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CGTCCTTATCCT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAcgtccttatcctAGATCGAGACCCGACGC chr9:139540433-Variant-A;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Variant A tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CATAGCGACAGT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAcatagcgacagtAGATCGAGACCCGACGC chr9:139540433-Variant-A;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative C tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CTGTCGTGGCTT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAActgtcgtggcttAGATCGAGACCCGACGC chr9:139540433-Alternative-C;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Variant A tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GCATTGATGCCG CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAgcattgatgccgAGATCGAGACCCGACGC chr9:139540433-Variant-A;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative C tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg GTTCAACGAATC CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAgttcaacgaatcAGATCGAGACCCGACGC chr9:139540433-Alternative-C;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative T tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CGCAGCTGATAC CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAcgcagctgatacAGATCGAGACCCGACGC chr9:139540433-Alternative-T;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative C tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg AGCCGTCGAACT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAagccgtcgaactAGATCGAGACCCGACGC chr9:139540433-Alternative-C;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Variant A tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg ATTCTATCCTGG CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccAcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAattctatcctggAGATCGAGACCCGACGC chr9:139540433-Variant-A;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative T tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CTACGAGCAGCT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAActacgagcagctAGATCGAGACCCGACGC chr9:139540433-Alternative-T;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative T tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg ACAGCGGTTAGG CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAacagcggttaggAGATCGAGACCCGACGC chr9:139540433-Alternative-T;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative C tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg ACGGTGATAACA CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccCcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAacggtgataacaAGATCGAGACCCGACGC chr9:139540433-Alternative-C;Patient-92 chr9:139540433-GA DeNovo Patient-92 intergenic 0.000319 0.00103 0.21 5.94 -0.9 AGPAT2 41477 Alternative T tcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatg CAGGCGTATGGT CGACGCGGTCTCTCTCTtcagaggaaggtagcactggtgacctggccggtgctaggcccccaagcccTcccgccagcgttcttcaagtctgcacgtccgagggcgggagggagcatgAGAGGGAGACGGACGTCTCAATAAcaggcgtatggtAGATCGAGACCCGACGC chr9:139540433-Alternative-T;Patient-92 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Reference C atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatca AAGGTTATTCGG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAaaggttattcggAGATCGAGACCCGACGC chr9:140047884-Reference-C;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Reference C atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatca CTCTAAGGTAAC CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAActctaaggtaacAGATCGAGACCCGACGC chr9:140047884-Reference-C;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Reference C atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatca GTCGCTACGTTC CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgtcgctacgttcAGATCGAGACCCGACGC chr9:140047884-Reference-C;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Reference C atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatca AGGCGCAACATC CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAaggcgcaacatcAGATCGAGACCCGACGC chr9:140047884-Reference-C;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Reference C atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatca GCGGTAATCGAC CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaCgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgcggtaatcgacAGATCGAGACCCGACGC chr9:140047884-Reference-C;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative A atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatca GAGTTGCACATT CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgagttgcacattAGATCGAGACCCGACGC chr9:140047884-Alternative-A;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative A atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatca CTCGTCAAGAAG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAActcgtcaagaagAGATCGAGACCCGACGC chr9:140047884-Alternative-A;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative A atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatca AACGCATCTAAG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAaacgcatctaagAGATCGAGACCCGACGC chr9:140047884-Alternative-A;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative A atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatca GAGCCTTAAGTT CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgagccttaagttAGATCGAGACCCGACGC chr9:140047884-Alternative-A;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative G atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatca CGTAACGCTCGA CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAcgtaacgctcgaAGATCGAGACCCGACGC chr9:140047884-Alternative-G;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative G atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatca GCAAGCAACGGT CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgcaagcaacggtAGATCGAGACCCGACGC chr9:140047884-Alternative-G;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative G atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatca ACGCGAGCGATA CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAacgcgagcgataAGATCGAGACCCGACGC chr9:140047884-Alternative-G;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Variant T atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatca GACAACAGTCGG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgacaacagtcggAGATCGAGACCCGACGC chr9:140047884-Variant-T;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative A atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatca GTATACCTGGCG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaAgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgtatacctggcgAGATCGAGACCCGACGC chr9:140047884-Alternative-A;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Variant T atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatca CGCGACGTTATA CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAcgcgacgttataAGATCGAGACCCGACGC chr9:140047884-Variant-T;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Variant T atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatca GATCGGAATAAG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgatcggaataagAGATCGAGACCCGACGC chr9:140047884-Variant-T;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Variant T atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatca CGAGCAGTGACA CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAcgagcagtgacaAGATCGAGACCCGACGC chr9:140047884-Variant-T;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative G atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatca GTAGCCTAACAT CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAgtagcctaacatAGATCGAGACCCGACGC chr9:140047884-Alternative-G;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Variant T atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatca ACCTGTAGGTCG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaTgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAacctgtaggtcgAGATCGAGACCCGACGC chr9:140047884-Variant-T;Patient-28 chr9:140047884-CT DeNovo Patient-28 intronic GRIN1 0.000256 4.95e-05 -0.08 1.56 0.07 GRIN1 14274 Alternative G atgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatca GGCTCAATTGCG CGACGCGGTCTCTCTCTatgccacatacacaccacatgctccatgcatacacacacaaatgtatgtaGgcaccatagtcacactacacatacatctctacccacacatgcaccatcaAGAGGGAGACGGACGTCTCAATAAggctcaattgcgAGATCGAGACCCGACGC chr9:140047884-Alternative-G;Patient-28 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative A acagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GGACACTAGTTA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAggacactagttaAGATCGAGACCCGACGC chr9:140334562-Alternative-A;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative A acagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CGCTAAGACCGA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAcgctaagaccgaAGATCGAGACCCGACGC chr9:140334562-Alternative-A;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative A acagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CTCTAATCGTGG CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAActctaatcgtggAGATCGAGACCCGACGC chr9:140334562-Alternative-A;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Reference C acagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GTAGCTTCTCAT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAgtagcttctcatAGATCGAGACCCGACGC chr9:140334562-Reference-C;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative A acagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CTGGTTCATGTT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAActggttcatgttAGATCGAGACCCGACGC chr9:140334562-Alternative-A;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Reference C acagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc ATCTGCGATCAT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAatctgcgatcatAGATCGAGACCCGACGC chr9:140334562-Reference-C;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative A acagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AGGTAGCCGTCA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaAcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAaggtagccgtcaAGATCGAGACCCGACGC chr9:140334562-Alternative-A;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative T acagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AACTTAGTGTGG CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAaacttagtgtggAGATCGAGACCCGACGC chr9:140334562-Alternative-T;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Reference C acagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AACACGAGCTGA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAaacacgagctgaAGATCGAGACCCGACGC chr9:140334562-Reference-C;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Variant G acagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GGATAAGCACCA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAggataagcaccaAGATCGAGACCCGACGC chr9:140334562-Variant-G;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Variant G acagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CTATGGCGAGCA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAActatggcgagcaAGATCGAGACCCGACGC chr9:140334562-Variant-G;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Variant G acagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CTGCGTGTAATA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAActgcgtgtaataAGATCGAGACCCGACGC chr9:140334562-Variant-G;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative T acagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AGTCGCGTTAAT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAagtcgcgttaatAGATCGAGACCCGACGC chr9:140334562-Alternative-T;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Variant G acagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GGCGAATAGATA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAggcgaatagataAGATCGAGACCCGACGC chr9:140334562-Variant-G;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Reference C acagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GATGTCGTAGCG CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAgatgtcgtagcgAGATCGAGACCCGACGC chr9:140334562-Reference-C;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative T acagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CGCTTCTTACGA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAcgcttcttacgaAGATCGAGACCCGACGC chr9:140334562-Alternative-T;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Variant G acagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc GACCTTAACCTT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaGcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAgaccttaaccttAGATCGAGACCCGACGC chr9:140334562-Variant-G;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative T acagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc CTGCGCTCGTTA CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAActgcgctcgttaAGATCGAGACCCGACGC chr9:140334562-Alternative-T;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Alternative T acagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AACACACGCATC CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaTcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAaacacacgcatcAGATCGAGACCCGACGC chr9:140334562-Alternative-T;Patient-85 chr9:140334562-CG DeNovo Patient-85 intronic ENTPD8 NA 0.00016 0.29 7.09 0.37 ENTPD8 1338 Reference C acagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtcc AGAGGTGTACGT CGACGCGGTCTCTCTCTacagtcccccagaccaggacagcccccccagaccaggacagccccccagaCcaggacagcccccccagaccaggacagcccccccagaccaggagagtccAGAGGGAGACGGACGTCTCAATAAagaggtgtacgtAGATCGAGACCCGACGC chr9:140334562-Reference-C;Patient-85 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Variant C tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CTTACCATCGCG CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAActtaccatcgcgAGATCGAGACCCGACGC chr9:14727553-Variant-C;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Variant C tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgca ATTACCGCTCAT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAattaccgctcatAGATCGAGACCCGACGC chr9:14727553-Variant-C;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative G tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CAGGTGTATTCT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAcaggtgtattctAGATCGAGACCCGACGC chr9:14727553-Alternative-G;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Reference A tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CTTAGTCCGTGC CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAActtagtccgtgcAGATCGAGACCCGACGC chr9:14727553-Reference-A;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Reference A tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgca GTCAAGCAAGCA CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAgtcaagcaagcaAGATCGAGACCCGACGC chr9:14727553-Reference-A;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Variant C tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CTGCGTCATTAT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAActgcgtcattatAGATCGAGACCCGACGC chr9:14727553-Variant-C;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Reference A tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgca GGATCATCGTCG CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAggatcatcgtcgAGATCGAGACCCGACGC chr9:14727553-Reference-A;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Variant C tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CGGACGTGTAGT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAcggacgtgtagtAGATCGAGACCCGACGC chr9:14727553-Variant-C;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Reference A tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AATCTCACCGGC CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAaatctcaccggcAGATCGAGACCCGACGC chr9:14727553-Reference-A;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative G tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AAGTCCGCTAAT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAaagtccgctaatAGATCGAGACCCGACGC chr9:14727553-Alternative-G;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Variant C tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AATGACGCGCGT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtCttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAaatgacgcgcgtAGATCGAGACCCGACGC chr9:14727553-Variant-C;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative G tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgca ACGCTATTCTAC CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAacgctattctacAGATCGAGACCCGACGC chr9:14727553-Alternative-G;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative G tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CGTTAAGACGAC CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAcgttaagacgacAGATCGAGACCCGACGC chr9:14727553-Alternative-G;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative G tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CAGCGACAGACA CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtGttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAcagcgacagacaAGATCGAGACCCGACGC chr9:14727553-Alternative-G;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative T tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AGACCTACACCA CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAagacctacaccaAGATCGAGACCCGACGC chr9:14727553-Alternative-T;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Reference A tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgca GATCGGACGAGT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtAttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAgatcggacgagtAGATCGAGACCCGACGC chr9:14727553-Reference-A;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative T tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AGATTGTCTCCT CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAagattgtctcctAGATCGAGACCCGACGC chr9:14727553-Alternative-T;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative T tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgca AGCAGAACGTCG CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAagcagaacgtcgAGATCGAGACCCGACGC chr9:14727553-Alternative-T;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative T tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgca CGATTGTAGAAG CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAcgattgtagaagAGATCGAGACCCGACGC chr9:14727553-Alternative-T;Patient-30 chr9:14727553-AC Inherited Patient-30 intergenic 0.000159 0.000513 NA NA NA ZDHHC21 34072 Alternative T tgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgca GCGATACCTGAA CGACGCGGTCTCTCTCTtgccctctgttcaaaacaccctccaacaccattgagaaatagttttctgtTttctgggtattttgttttttgcatctgaagatgtatctactactgtgcaAGAGGGAGACGGACGTCTCAATAAgcgatacctgaaAGATCGAGACCCGACGC chr9:14727553-Alternative-T;Patient-30 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Reference G gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctat GATTGCCTTGTT CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgattgccttgttAGATCGAGACCCGACGC chr9:15408472-Reference-G;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative C gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctat AGATCCGCGTTC CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAagatccgcgttcAGATCGAGACCCGACGC chr9:15408472-Alternative-C;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Variant A gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctat AATCGATTGTCG CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAaatcgattgtcgAGATCGAGACCCGACGC chr9:15408472-Variant-A;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Reference G gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctat GACCTAACAGCG CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgacctaacagcgAGATCGAGACCCGACGC chr9:15408472-Reference-G;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Reference G gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctat CGGCACGAACTA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAcggcacgaactaAGATCGAGACCCGACGC chr9:15408472-Reference-G;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Reference G gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctat CATTCAGTGCTT CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAcattcagtgcttAGATCGAGACCCGACGC chr9:15408472-Reference-G;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative T gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctat GCAAGAGAGTTA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgcaagagagttaAGATCGAGACCCGACGC chr9:15408472-Alternative-T;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Variant A gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctat GCGAATCGATAA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgcgaatcgataaAGATCGAGACCCGACGC chr9:15408472-Variant-A;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Variant A gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctat GTTACAGGACGG CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgttacaggacggAGATCGAGACCCGACGC chr9:15408472-Variant-A;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Reference G gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctat AATCGACCGGCA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatGttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAaatcgaccggcaAGATCGAGACCCGACGC chr9:15408472-Reference-G;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative C gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctat CTCGGAGATAGG CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAActcggagataggAGATCGAGACCCGACGC chr9:15408472-Alternative-C;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Variant A gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctat GGTTGAACCTAC CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAggttgaacctacAGATCGAGACCCGACGC chr9:15408472-Variant-A;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative T gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctat AAGTGTCCATAC CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAaagtgtccatacAGATCGAGACCCGACGC chr9:15408472-Alternative-T;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative C gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctat GACTACGGCGTT CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgactacggcgttAGATCGAGACCCGACGC chr9:15408472-Alternative-C;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Variant A gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctat CTCGGACGAGAA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatAttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAActcggacgagaaAGATCGAGACCCGACGC chr9:15408472-Variant-A;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative T gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctat GGCGATCGTCAA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAggcgatcgtcaaAGATCGAGACCCGACGC chr9:15408472-Alternative-T;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative T gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctat GTCGGAGTCGAA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgtcggagtcgaaAGATCGAGACCCGACGC chr9:15408472-Alternative-T;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative T gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctat GGACGAGCCTAA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatTttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAggacgagcctaaAGATCGAGACCCGACGC chr9:15408472-Alternative-T;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative C gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctat AACAGGTGTACA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAaacaggtgtacaAGATCGAGACCCGACGC chr9:15408472-Alternative-C;Patient-37 chr9:15408472-GA DeNovo Patient-37 intergenic 6.4e-05 0.000513 -0.33 0.3 -5.86 SNAPC3 14309 Alternative C gactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctat GATAAGTCGTGA CGACGCGGTCTCTCTCTgactgtatgatgagttaggaacttgctggcaaaagaaagtaagggagaatCttctgcttcacctccctctcttgtgggcaataataattctaatagctatAGAGGGAGACGGACGTCTCAATAAgataagtcgtgaAGATCGAGACCCGACGC chr9:15408472-Alternative-C;Patient-37 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Reference T gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt CTTAGGCCATGG CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAActtaggccatggAGATCGAGACCCGACGC chr9:15430074-Reference-T;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Reference T gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AGACTGGCGTCA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAagactggcgtcaAGATCGAGACCCGACGC chr9:15430074-Reference-T;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Variant G gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AGAACGCGTCAC CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAagaacgcgtcacAGATCGAGACCCGACGC chr9:15430074-Variant-G;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative A gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GACTGTGCACCA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgactgtgcaccaAGATCGAGACCCGACGC chr9:15430074-Alternative-A;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Variant G gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GCGTCAGTTAAT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgcgtcagttaatAGATCGAGACCCGACGC chr9:15430074-Variant-G;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Variant G gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GTCGCTCTCACA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgtcgctctcacaAGATCGAGACCCGACGC chr9:15430074-Variant-G;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Reference T gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AAGACCGTAGAA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAaagaccgtagaaAGATCGAGACCCGACGC chr9:15430074-Reference-T;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Reference T gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt ACCACAGGTATT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAaccacaggtattAGATCGAGACCCGACGC chr9:15430074-Reference-T;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Variant G gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt CGATATCCTACC CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAcgatatcctaccAGATCGAGACCCGACGC chr9:15430074-Variant-G;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Reference T gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt CTAGGTCGACAC CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtTcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAActaggtcgacacAGATCGAGACCCGACGC chr9:15430074-Reference-T;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Variant G gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GGTGTTGGATAA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtGcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAggtgttggataaAGATCGAGACCCGACGC chr9:15430074-Variant-G;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative A gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AGTCGTGTTCGG CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAagtcgtgttcggAGATCGAGACCCGACGC chr9:15430074-Alternative-A;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative A gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AACAGACGGCAA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAaacagacggcaaAGATCGAGACCCGACGC chr9:15430074-Alternative-A;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative C gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GTGACGGTCGTT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgtgacggtcgttAGATCGAGACCCGACGC chr9:15430074-Alternative-C;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative A gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AACGCACGACGA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAaacgcacgacgaAGATCGAGACCCGACGC chr9:15430074-Alternative-A;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative A gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt CAATGCTCCTAC CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtAcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAcaatgctcctacAGATCGAGACCCGACGC chr9:15430074-Alternative-A;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative C gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt ATAACGATGCGA CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAataacgatgcgaAGATCGAGACCCGACGC chr9:15430074-Alternative-C;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative C gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GATACTGGTGGT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgatactggtggtAGATCGAGACCCGACGC chr9:15430074-Alternative-C;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative C gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt AGCAGTAGGATT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAagcagtaggattAGATCGAGACCCGACGC chr9:15430074-Alternative-C;Patient-22 chr9:15430074-TG Inherited Patient-22 intronic SNAPC3 NA 4.95e-05 0.09 4.15 1.33 SNAPC3 7291 Alternative C gtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacatt GTTACGTAGGTT CGACGCGGTCTCTCTCTgtacgtatacataaaatttgctccctgctaatgagaactgtatgacatgtCcacaaaaattgattatgtattaggtcacaaaggaaacatcaatgacattAGAGGGAGACGGACGTCTCAATAAgttacgtaggttAGATCGAGACCCGACGC chr9:15430074-Alternative-C;Patient-22 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Variant G gttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat AACACGGACGGT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAaacacggacggtAGATCGAGACCCGACGC chr9:15496824-Variant-G;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Variant G gttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CTAACATCGGAT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAActaacatcggatAGATCGAGACCCGACGC chr9:15496824-Variant-G;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Variant G gttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat GCACGAGACACT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAgcacgagacactAGATCGAGACCCGACGC chr9:15496824-Variant-G;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Variant G gttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat ACAAGTCATCGT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAacaagtcatcgtAGATCGAGACCCGACGC chr9:15496824-Variant-G;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Variant G gttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat AGATGCGGAATT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataGttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAagatgcggaattAGATCGAGACCCGACGC chr9:15496824-Variant-G;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative T gttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat GCGATCCGCATA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAgcgatccgcataAGATCGAGACCCGACGC chr9:15496824-Alternative-T;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative T gttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CTTGATCTAGCT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAActtgatctagctAGATCGAGACCCGACGC chr9:15496824-Alternative-T;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Reference A gttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat GCATCTAGCGAC CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAgcatctagcgacAGATCGAGACCCGACGC chr9:15496824-Reference-A;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative T gttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat AACCGGCTCACA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAaaccggctcacaAGATCGAGACCCGACGC chr9:15496824-Alternative-T;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Reference A gttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat GCCGATCATGCT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAgccgatcatgctAGATCGAGACCCGACGC chr9:15496824-Reference-A;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative T gttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat ACTAGGCCGTGA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAactaggccgtgaAGATCGAGACCCGACGC chr9:15496824-Alternative-T;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Reference A gttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CGGCGTAGAATC CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAcggcgtagaatcAGATCGAGACCCGACGC chr9:15496824-Reference-A;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative T gttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CAATAACGAGCA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataTttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAcaataacgagcaAGATCGAGACCCGACGC chr9:15496824-Alternative-T;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Reference A gttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat ACACGCTCTATT CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAacacgctctattAGATCGAGACCCGACGC chr9:15496824-Reference-A;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative C gttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat GCCGGATCGATA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAgccggatcgataAGATCGAGACCCGACGC chr9:15496824-Alternative-C;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative C gttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat ATTCCGCTGACA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAattccgctgacaAGATCGAGACCCGACGC chr9:15496824-Alternative-C;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative C gttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CTGAGTCGATGC CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAActgagtcgatgcAGATCGAGACCCGACGC chr9:15496824-Alternative-C;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative C gttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CGACGTGCATCA CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAcgacgtgcatcaAGATCGAGACCCGACGC chr9:15496824-Alternative-C;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Reference A gttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat AGGTACTTATGC CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataAttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAaggtacttatgcAGATCGAGACCCGACGC chr9:15496824-Reference-A;Patient-76 chr9:15496824-AG DeNovo Patient-76 intronic PSIP1 NA 4.95e-05 -0.02 2.32 -1.68 PSIP1 14178 Alternative C gttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatat CAGGATTGCGTC CGACGCGGTCTCTCTCTgttaagtacagaagatttttaaattcgcacacttttttttagttcacataCttcaacatcattaagttatccaggaaatgtaaatcaaaaatcacaatatAGAGGGAGACGGACGTCTCAATAAcaggattgcgtcAGATCGAGACCCGACGC chr9:15496824-Alternative-C;Patient-76 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Variant C ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CGCGCAGTATAC CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgcgcagtatacAGATCGAGACCCGACGC chr9:15498855-Variant-C;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Variant C ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa ATAGGACGATGG CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAataggacgatggAGATCGAGACCCGACGC chr9:15498855-Variant-C;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative G ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GATAATCTCGAC CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgataatctcgacAGATCGAGACCCGACGC chr9:15498855-Alternative-G;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative A ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GACCACGAATAA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgaccacgaataaAGATCGAGACCCGACGC chr9:15498855-Alternative-A;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative G ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GCGGTTATCCGA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgcggttatccgaAGATCGAGACCCGACGC chr9:15498855-Alternative-G;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative G ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa ATTGTCGAGCAT CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAattgtcgagcatAGATCGAGACCCGACGC chr9:15498855-Alternative-G;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative G ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa AGCTACGCTATA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAagctacgctataAGATCGAGACCCGACGC chr9:15498855-Alternative-G;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative A ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GGATAGTAGGTT CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAggatagtaggttAGATCGAGACCCGACGC chr9:15498855-Alternative-A;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative G ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GACAGTTGATGA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacGatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgacagttgatgaAGATCGAGACCCGACGC chr9:15498855-Alternative-G;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative A ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GTCTCCATGACA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgtctccatgacaAGATCGAGACCCGACGC chr9:15498855-Alternative-A;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Reference T ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CTCTAACCAGAA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAActctaaccagaaAGATCGAGACCCGACGC chr9:15498855-Reference-T;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Reference T ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa GTTGGTTGCTAA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAgttggttgctaaAGATCGAGACCCGACGC chr9:15498855-Reference-T;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Variant C ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CGTACGTCTAGG CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgtacgtctaggAGATCGAGACCCGACGC chr9:15498855-Variant-C;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative A ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CATGAAGCTTGT CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcatgaagcttgtAGATCGAGACCCGACGC chr9:15498855-Alternative-A;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Reference T ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CATTCGCATCTA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcattcgcatctaAGATCGAGACCCGACGC chr9:15498855-Reference-T;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Variant C ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CGGAAGACCATC CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcggaagaccatcAGATCGAGACCCGACGC chr9:15498855-Variant-C;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Reference T ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa AGAATGGTCAGT CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAagaatggtcagtAGATCGAGACCCGACGC chr9:15498855-Reference-T;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Alternative A ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CGAGAATATACG CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacAatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAcgagaatatacgAGATCGAGACCCGACGC chr9:15498855-Alternative-A;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Reference T ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa AGGAAGTGTCTA CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacTatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAAaggaagtgtctaAGATCGAGACCCGACGC chr9:15498855-Reference-T;Patient-37 chr9:15498855-TC Inherited Patient-37 intronic PSIP1 NA 4.95e-05 -0.04 2.05 -1.4 PSIP1 12147 Variant C ttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaa CTATTCTCGAAC CGACGCGGTCTCTCTCTttaaaataacataccaaatgcttaacatgcacacaaaagcagggcataacCatatacgacagaagctcctttaaaaaatgcacagacaagtttgaaaaaaAGAGGGAGACGGACGTCTCAATAActattctcgaacAGATCGAGACCCGACGC chr9:15498855-Variant-C;Patient-37 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative C tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GCATGACACCGT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgcatgacaccgtAGATCGAGACCCGACGC chr9:18536245-Alternative-C;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative G tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GGCTTGCGTACT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAggcttgcgtactAGATCGAGACCCGACGC chr9:18536245-Alternative-G;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Reference A tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggac AGTTAGGACCTA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAagttaggacctaAGATCGAGACCCGACGC chr9:18536245-Reference-A;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative C tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggac AGTCCGCTAATA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAagtccgctaataAGATCGAGACCCGACGC chr9:18536245-Alternative-C;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative G tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggac CATTGGTGCGGT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAcattggtgcggtAGATCGAGACCCGACGC chr9:18536245-Alternative-G;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Reference A tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggac GTCGAGTAACCA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgtcgagtaaccaAGATCGAGACCCGACGC chr9:18536245-Reference-A;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Reference A tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggac CTGGTATCATGT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAActggtatcatgtAGATCGAGACCCGACGC chr9:18536245-Reference-A;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative C tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GCGACTTCATAA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgcgacttcataaAGATCGAGACCCGACGC chr9:18536245-Alternative-C;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Variant T tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggac CGTGTGGTATTA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAcgtgtggtattaAGATCGAGACCCGACGC chr9:18536245-Variant-T;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative G tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggac CGTAATAGTGCT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAcgtaatagtgctAGATCGAGACCCGACGC chr9:18536245-Alternative-G;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative C tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GTCAGAACACCG CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgtcagaacaccgAGATCGAGACCCGACGC chr9:18536245-Alternative-C;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative G tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GAATAACGGACG CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgaataacggacgAGATCGAGACCCGACGC chr9:18536245-Alternative-G;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative C tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GCGTCGATGAAC CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaCcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgcgtcgatgaacAGATCGAGACCCGACGC chr9:18536245-Alternative-C;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Reference A tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggac CAAGGACAGTCG CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAcaaggacagtcgAGATCGAGACCCGACGC chr9:18536245-Reference-A;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Variant T tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GATGAGTCGCGA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgatgagtcgcgaAGATCGAGACCCGACGC chr9:18536245-Variant-T;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Variant T tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggac CTAGTGCAACTA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAActagtgcaactaAGATCGAGACCCGACGC chr9:18536245-Variant-T;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Alternative G tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GGTGAGCTTAGG CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaGcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAggtgagcttaggAGATCGAGACCCGACGC chr9:18536245-Alternative-G;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Reference A tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggac AGTAGAGCTACG CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaActtgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAagtagagctacgAGATCGAGACCCGACGC chr9:18536245-Reference-A;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Variant T tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggac GTGACATCGAAT CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAgtgacatcgaatAGATCGAGACCCGACGC chr9:18536245-Variant-T;Patient-88 chr9:18536245-AT DeNovo Patient-88 intronic ADAMTSL1 NA 4.95e-05 0.52 9.55 1.01 ADAMTSL1 62165 Variant T tttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggac CGTAACCGGACA CGACGCGGTCTCTCTCTtttagaacaattcagttaaatattctttgttaggtgcttgatttggaaaaTcttgagagtctcttagctaaatctccacggtcatctttaatccctggacAGAGGGAGACGGACGTCTCAATAAcgtaaccggacaAGATCGAGACCCGACGC chr9:18536245-Variant-T;Patient-88 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Variant G taaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GTGAACGTCAGA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAgtgaacgtcagaAGATCGAGACCCGACGC chr9:18546191-Variant-G;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Reference A taaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GATCCTGCGCAA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAgatcctgcgcaaAGATCGAGACCCGACGC chr9:18546191-Reference-A;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Reference A taaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GATTCTCGTACT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAgattctcgtactAGATCGAGACCCGACGC chr9:18546191-Reference-A;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Reference A taaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GGCCAATTCTAT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAggccaattctatAGATCGAGACCCGACGC chr9:18546191-Reference-A;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Variant G taaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CACACAGGACGA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcacacaggacgaAGATCGAGACCCGACGC chr9:18546191-Variant-G;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Reference A taaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CAGACTTAAGGT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcagacttaaggtAGATCGAGACCCGACGC chr9:18546191-Reference-A;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Reference A taaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CTTGGTCCGGAT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctAtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAActtggtccggatAGATCGAGACCCGACGC chr9:18546191-Reference-A;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative T taaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CTGTGCTCATTA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAActgtgctcattaAGATCGAGACCCGACGC chr9:18546191-Alternative-T;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative C taaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CAATTGACAGCG CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcaattgacagcgAGATCGAGACCCGACGC chr9:18546191-Alternative-C;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative T taaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GTGATCTTCGTT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAgtgatcttcgttAGATCGAGACCCGACGC chr9:18546191-Alternative-T;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Variant G taaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca AGTACTGACGAA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAagtactgacgaaAGATCGAGACCCGACGC chr9:18546191-Variant-G;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative T taaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CGAACACGTTAT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcgaacacgttatAGATCGAGACCCGACGC chr9:18546191-Alternative-T;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative T taaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca AACACCGAACCT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAaacaccgaacctAGATCGAGACCCGACGC chr9:18546191-Alternative-T;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Variant G taaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CAACCAATGCGA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcaaccaatgcgaAGATCGAGACCCGACGC chr9:18546191-Variant-G;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative C taaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GGCCATAGTAGG CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAggccatagtaggAGATCGAGACCCGACGC chr9:18546191-Alternative-C;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Variant G taaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca AGCCGAAGCCAA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctGtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAagccgaagccaaAGATCGAGACCCGACGC chr9:18546191-Variant-G;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative T taaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GGTGGTCGCAAT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctTtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAggtggtcgcaatAGATCGAGACCCGACGC chr9:18546191-Alternative-T;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative C taaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca GATATCTCGACT CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAgatatctcgactAGATCGAGACCCGACGC chr9:18546191-Alternative-C;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative C taaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca CGCAGAAGATAC CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAcgcagaagatacAGATCGAGACCCGACGC chr9:18546191-Alternative-C;Patient-55 chr9:18546191-AG DeNovo Patient-55 intronic ADAMTSL1 6.4e-05 4.95e-05 0.83 12.11 -3.96 ADAMTSL1 72111 Alternative C taaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttca ACGACCGTCATA CGACGCGGTCTCTCTCTtaaagaggttatctttgaggtttggctatatttttctttataatcttgctCtgagcagtaactacatatggctgttggagagtgtttagtttgggtttcaAGAGGGAGACGGACGTCTCAATAAacgaccgtcataAGATCGAGACCCGACGC chr9:18546191-Alternative-C;Patient-55 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative A ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca ACGACACCTCGT CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAacgacacctcgtAGATCGAGACCCGACGC chr9:19435562-Alternative-A;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative C ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GGTACACGTTCG CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAggtacacgttcgAGATCGAGACCCGACGC chr9:19435562-Alternative-C;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative C ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca CTACGAGAATGA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAActacgagaatgaAGATCGAGACCCGACGC chr9:19435562-Alternative-C;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative A ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GTGTCCATGCGA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAgtgtccatgcgaAGATCGAGACCCGACGC chr9:19435562-Alternative-A;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative A ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca ACCACAGACTAT CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAaccacagactatAGATCGAGACCCGACGC chr9:19435562-Alternative-A;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Variant T ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca CGAACGACACTT CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAcgaacgacacttAGATCGAGACCCGACGC chr9:19435562-Variant-T;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative C ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca AGGCGAATTAAG CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAaggcgaattaagAGATCGAGACCCGACGC chr9:19435562-Alternative-C;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative A ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca CTTAATCGGTAC CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAActtaatcggtacAGATCGAGACCCGACGC chr9:19435562-Alternative-A;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative C ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca ATCGCAACAACA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAatcgcaacaacaAGATCGAGACCCGACGC chr9:19435562-Alternative-C;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative A ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GTATACGCAGAA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaAcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAgtatacgcagaaAGATCGAGACCCGACGC chr9:19435562-Alternative-A;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Reference G ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca AGATTCCGCGCA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAagattccgcgcaAGATCGAGACCCGACGC chr9:19435562-Reference-G;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Reference G ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GGTACAGTGCTA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAggtacagtgctaAGATCGAGACCCGACGC chr9:19435562-Reference-G;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Reference G ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca ATCTCGCGGTAC CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAatctcgcggtacAGATCGAGACCCGACGC chr9:19435562-Reference-G;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Variant T ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca CGATCCTGCAAG CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAcgatcctgcaagAGATCGAGACCCGACGC chr9:19435562-Variant-T;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Alternative C ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GATTGGTCTTCT CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaCcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAgattggtcttctAGATCGAGACCCGACGC chr9:19435562-Alternative-C;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Reference G ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca AGCTTAGAGCGA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAagcttagagcgaAGATCGAGACCCGACGC chr9:19435562-Reference-G;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Variant T ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca AGAGGTGGATAA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAagaggtggataaAGATCGAGACCCGACGC chr9:19435562-Variant-T;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Variant T ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca AGCTGGTAGCGA CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAagctggtagcgaAGATCGAGACCCGACGC chr9:19435562-Variant-T;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Variant T ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca ATCGTGTGTCGG CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaTcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAatcgtgtgtcggAGATCGAGACCCGACGC chr9:19435562-Variant-T;Patient-58 chr9:19435562-GT Inherited Patient-58 intronic ACER2 0.000701 0.000346 -0.15 1.03 0.22 ACER2 26636 Reference G ttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggca GGATACCACACG CGACGCGGTCTCTCTCTttaatgtctcatttacaatctattaggtaaaggttttgctctttgcattaGcattttcttttgggaacttgtgtactcaaatgcaaaaatcagctgggcaAGAGGGAGACGGACGTCTCAATAAggataccacacgAGATCGAGACCCGACGC chr9:19435562-Reference-G;Patient-58 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative G ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CATTACGATACG CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAcattacgatacgAGATCGAGACCCGACGC chr9:1958964-Alternative-G;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative G ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CTATACCGTTGT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAActataccgttgtAGATCGAGACCCGACGC chr9:1958964-Alternative-G;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative G ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CAATAGCGCACG CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAcaatagcgcacgAGATCGAGACCCGACGC chr9:1958964-Alternative-G;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative G ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca ATCGTGCCGAGA CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAatcgtgccgagaAGATCGAGACCCGACGC chr9:1958964-Alternative-G;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Reference T ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca AACGTGCAACAC CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAaacgtgcaacacAGATCGAGACCCGACGC chr9:1958964-Reference-T;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Reference T ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca AACCGATAACAG CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAaaccgataacagAGATCGAGACCCGACGC chr9:1958964-Reference-T;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative G ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca GATTAAGCGTCA CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctGtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAgattaagcgtcaAGATCGAGACCCGACGC chr9:1958964-Alternative-G;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Reference T ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca AGTCGAGTTAAG CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAagtcgagttaagAGATCGAGACCCGACGC chr9:1958964-Reference-T;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Reference T ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca ACCGTGCAGGTT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAaccgtgcaggttAGATCGAGACCCGACGC chr9:1958964-Reference-T;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative A ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CGCCACCAATAA CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAcgccaccaataaAGATCGAGACCCGACGC chr9:1958964-Alternative-A;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative A ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca GTGACAAGCGAC CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAgtgacaagcgacAGATCGAGACCCGACGC chr9:1958964-Alternative-A;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative A ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca GAGATAGACGCT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAgagatagacgctAGATCGAGACCCGACGC chr9:1958964-Alternative-A;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative A ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca ACGACTCGTCCT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAacgactcgtcctAGATCGAGACCCGACGC chr9:1958964-Alternative-A;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Reference T ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CTCTTATGCTGA CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctTtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAActcttatgctgaAGATCGAGACCCGACGC chr9:1958964-Reference-T;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Alternative A ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca ATAAGGACGTGT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctAtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAataaggacgtgtAGATCGAGACCCGACGC chr9:1958964-Alternative-A;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Variant C ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca ACCGCAGTTGAC CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAaccgcagttgacAGATCGAGACCCGACGC chr9:1958964-Variant-C;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Variant C ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca GGATCACAAGAT CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAggatcacaagatAGATCGAGACCCGACGC chr9:1958964-Variant-C;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Variant C ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca AACGCAGATAGG CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAaacgcagataggAGATCGAGACCCGACGC chr9:1958964-Variant-C;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Variant C ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca CGCACGCTCTAA CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAcgcacgctctaaAGATCGAGACCCGACGC chr9:1958964-Variant-C;Patient-77 chr9:1958964-TC DeNovo Patient-77 intergenic NA 0.000513 NA NA NA SMARCA2 56377 Variant C ctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcaca GAGAGCACAACC CGACGCGGTCTCTCTCTctgagaatgcccactttctagtgagttgagatgccaatgtgaagatctctCtcattggagaatttgggtaacacgtagggtactagaagcatgaggcacaAGAGGGAGACGGACGTCTCAATAAgagagcacaaccAGATCGAGACCCGACGC chr9:1958964-Variant-C;Patient-77 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative A gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GTGAGACATCTT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAgtgagacatcttAGATCGAGACCCGACGC chr9:1975872-Alternative-A;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative A gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GTTACGCAAGTT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAgttacgcaagttAGATCGAGACCCGACGC chr9:1975872-Alternative-A;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative A gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AGATACGGCATA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAagatacggcataAGATCGAGACCCGACGC chr9:1975872-Alternative-A;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative C gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ACACGTTACGAC CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAacacgttacgacAGATCGAGACCCGACGC chr9:1975872-Alternative-C;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative C gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AAGCGTCAACAT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaagcgtcaacatAGATCGAGACCCGACGC chr9:1975872-Alternative-C;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative C gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ATATGATGGTGG CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAatatgatggtggAGATCGAGACCCGACGC chr9:1975872-Alternative-C;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative C gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GGAGTCCACGTT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAggagtccacgttAGATCGAGACCCGACGC chr9:1975872-Alternative-C;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative A gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ACCTTGAGCGAG CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaccttgagcgagAGATCGAGACCCGACGC chr9:1975872-Alternative-A;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative A gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ACCTTAGCGATA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaAtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaccttagcgataAGATCGAGACCCGACGC chr9:1975872-Alternative-A;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Alternative C gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ACCGCTTAGTAA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaCtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaccgcttagtaaAGATCGAGACCCGACGC chr9:1975872-Alternative-C;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Variant T gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AATCATACGCCT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaatcatacgcctAGATCGAGACCCGACGC chr9:1975872-Variant-T;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Reference G gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AGTGAGGCGAAC CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAagtgaggcgaacAGATCGAGACCCGACGC chr9:1975872-Reference-G;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Reference G gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AGGAACGGAGGT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaggaacggaggtAGATCGAGACCCGACGC chr9:1975872-Reference-G;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Variant T gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AAGCATTGCCAT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaagcattgccatAGATCGAGACCCGACGC chr9:1975872-Variant-T;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Variant T gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat CGACTGGATGCT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAcgactggatgctAGATCGAGACCCGACGC chr9:1975872-Variant-T;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Reference G gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat AAGGCGAAGGCA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAaaggcgaaggcaAGATCGAGACCCGACGC chr9:1975872-Reference-G;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Reference G gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GCATCAGATTGT CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAgcatcagattgtAGATCGAGACCCGACGC chr9:1975872-Reference-G;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Reference G gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat ACATCGCACTTA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaGtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAacatcgcacttaAGATCGAGACCCGACGC chr9:1975872-Reference-G;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Variant T gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GTTCCGCTTGAC CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAgttccgcttgacAGATCGAGACCCGACGC chr9:1975872-Variant-T;Patient-26 chr9:1975872-GT DeNovo Patient-26 intergenic NA 0.000513 -0.03 2.2 0.63 SMARCA2 39469 Variant T gcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagat GGATGGTGGCTA CGACGCGGTCTCTCTCTgcattttttttttagatggagtctcactctgttgcccaggctggagtgcaTtggcacgatctcggtttactgcaacttccgcctcccaggttcaagagatAGAGGGAGACGGACGTCTCAATAAggatggtggctaAGATCGAGACCCGACGC chr9:1975872-Variant-T;Patient-26 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative G gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac CGCGTAACAATA CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAcgcgtaacaataAGATCGAGACCCGACGC chr9:20591445-Alternative-G;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative G gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GGCAAGAGTACC CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAggcaagagtaccAGATCGAGACCCGACGC chr9:20591445-Alternative-G;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative G gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac ATCGGTGGTAGG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAatcggtggtaggAGATCGAGACCCGACGC chr9:20591445-Alternative-G;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative G gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac ACTTGCGTCCGA CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAacttgcgtccgaAGATCGAGACCCGACGC chr9:20591445-Alternative-G;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative T gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac ATTCTTGCGGTT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAattcttgcggttAGATCGAGACCCGACGC chr9:20591445-Alternative-T;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative T gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GTACAGATTGAC CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAgtacagattgacAGATCGAGACCCGACGC chr9:20591445-Alternative-T;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative G gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac AAGAACGTTCCT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaGgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAaagaacgttcctAGATCGAGACCCGACGC chr9:20591445-Alternative-G;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Variant A gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GTTGATCAAGCT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAgttgatcaagctAGATCGAGACCCGACGC chr9:20591445-Variant-A;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative T gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GGACTTACTCTT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAggacttactcttAGATCGAGACCCGACGC chr9:20591445-Alternative-T;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Variant A gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac CTAACTCTACAG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAActaactctacagAGATCGAGACCCGACGC chr9:20591445-Variant-A;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative T gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac ACTTATGCAGGT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAacttatgcaggtAGATCGAGACCCGACGC chr9:20591445-Alternative-T;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Variant A gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac AAGTCGTACGTT CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAaagtcgtacgttAGATCGAGACCCGACGC chr9:20591445-Variant-A;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Alternative T gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GTTGGATCCATA CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaTgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAgttggatccataAGATCGAGACCCGACGC chr9:20591445-Alternative-T;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Reference C gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GCAGTTATCAGG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAgcagttatcaggAGATCGAGACCCGACGC chr9:20591445-Reference-C;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Reference C gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac AGTGCTTGGTAA CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAagtgcttggtaaAGATCGAGACCCGACGC chr9:20591445-Reference-C;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Variant A gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac CGATGTATCCGC CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAcgatgtatccgcAGATCGAGACCCGACGC chr9:20591445-Variant-A;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Variant A gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac AATCACGGACCG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaAgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAaatcacggaccgAGATCGAGACCCGACGC chr9:20591445-Variant-A;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Reference C gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac GTCATTGGATAC CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAgtcattggatacAGATCGAGACCCGACGC chr9:20591445-Reference-C;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Reference C gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac CAACATGCTACG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAcaacatgctacgAGATCGAGACCCGACGC chr9:20591445-Reference-C;Patient-54 chr9:20591445-CA Inherited Patient-54 intronic MLLT3 0.000414 4.95e-05 -0.46 0.12 -4.75 MLLT3 31068 Reference C gactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaac AGTTGTGCGTCG CGACGCGGTCTCTCTCTgactgtagggggcattctcagaggtgtattcagcaaatgcagccacagaaCgactcagcctggcccacaaaatgaacttataaacagatatgttaaaaacAGAGGGAGACGGACGTCTCAATAAagttgtgcgtcgAGATCGAGACCCGACGC chr9:20591445-Reference-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative C cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaact ACGATACGCTTA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAacgatacgcttaAGATCGAGACCCGACGC chr9:21042971-Alternative-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative C cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaact GTAGCTAGCCTT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgtagctagccttAGATCGAGACCCGACGC chr9:21042971-Alternative-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative C cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaact ACGAGCGTTGTC CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAacgagcgttgtcAGATCGAGACCCGACGC chr9:21042971-Alternative-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative C cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaact AGTCGATAAGGT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAagtcgataaggtAGATCGAGACCCGACGC chr9:21042971-Alternative-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative C cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaact AGTAATCTCGCA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaCtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAagtaatctcgcaAGATCGAGACCCGACGC chr9:21042971-Alternative-C;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Variant A cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaact ATAAGGACGCAT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAataaggacgcatAGATCGAGACCCGACGC chr9:21042971-Variant-A;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Variant A cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaact AATAGCGCTGTT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAaatagcgctgttAGATCGAGACCCGACGC chr9:21042971-Variant-A;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Variant A cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaact GACTGGATATCA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgactggatatcaAGATCGAGACCCGACGC chr9:21042971-Variant-A;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Variant A cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaact GTTGTTCCAACT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgttgttccaactAGATCGAGACCCGACGC chr9:21042971-Variant-A;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Variant A cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaact GCGCCGTACTAT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaAtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgcgccgtactatAGATCGAGACCCGACGC chr9:21042971-Variant-A;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Reference T cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaact CTTAGACTGACT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAActtagactgactAGATCGAGACCCGACGC chr9:21042971-Reference-T;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative G cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaact ACTCGCATAGGT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAactcgcataggtAGATCGAGACCCGACGC chr9:21042971-Alternative-G;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative G cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaact CGGAGCATGAGA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAcggagcatgagaAGATCGAGACCCGACGC chr9:21042971-Alternative-G;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Reference T cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaact CGGCTAGGTACA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAcggctaggtacaAGATCGAGACCCGACGC chr9:21042971-Reference-T;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative G cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaact CGCTGATCGTAC CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAcgctgatcgtacAGATCGAGACCCGACGC chr9:21042971-Alternative-G;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative G cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaact CACTGAAGCCGA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAcactgaagccgaAGATCGAGACCCGACGC chr9:21042971-Alternative-G;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Reference T cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaact CGGACCTTAATT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAcggaccttaattAGATCGAGACCCGACGC chr9:21042971-Reference-T;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Reference T cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaact GTGAATGACGAT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgtgaatgacgatAGATCGAGACCCGACGC chr9:21042971-Reference-T;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Alternative G cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaact GGTGACGGACTT CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaGtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAggtgacggacttAGATCGAGACCCGACGC chr9:21042971-Alternative-G;Patient-54 chr9:21042971-TA DeNovo Patient-54 intergenic NA 0.000513 -0.23 0.6 -0.7 IFNB1 34971 Reference T cttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaact GCGGAACGGTAA CGACGCGGTCTCTCTCTcttgtagaaatttgttttcacttctcttaggtaaatatttaggaatggaaTtgttgaattatagggtaaatatatatatatatatatttaataagaaactAGAGGGAGACGGACGTCTCAATAAgcggaacggtaaAGATCGAGACCCGACGC chr9:21042971-Reference-T;Patient-54 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Reference C gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt ACGTCGTTACGG CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAacgtcgttacggAGATCGAGACCCGACGC chr9:21048733-Reference-C;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Reference C gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CGCCGGATATAC CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcgccggatatacAGATCGAGACCCGACGC chr9:21048733-Reference-C;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative A gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt AACTCATGTCGA CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAaactcatgtcgaAGATCGAGACCCGACGC chr9:21048733-Alternative-A;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Variant G gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GTTACGATGAGA CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgttacgatgagaAGATCGAGACCCGACGC chr9:21048733-Variant-G;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Reference C gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt ATCGCGCAGCTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAatcgcgcagcttAGATCGAGACCCGACGC chr9:21048733-Reference-C;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Reference C gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GCGTGCTGTCTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgcgtgctgtcttAGATCGAGACCCGACGC chr9:21048733-Reference-C;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative A gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GCAGCTTATCTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgcagcttatcttAGATCGAGACCCGACGC chr9:21048733-Alternative-A;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Variant G gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt ACGGCTGACGAA CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAacggctgacgaaAGATCGAGACCCGACGC chr9:21048733-Variant-G;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative A gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GATGCATACGAA CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgatgcatacgaaAGATCGAGACCCGACGC chr9:21048733-Alternative-A;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Variant G gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GAGATACCTGTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgagatacctgttAGATCGAGACCCGACGC chr9:21048733-Variant-G;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative A gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CAATTGCGTGTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcaattgcgtgttAGATCGAGACCCGACGC chr9:21048733-Alternative-A;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Variant G gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CTCGCGCATGAT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAActcgcgcatgatAGATCGAGACCCGACGC chr9:21048733-Variant-G;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative A gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CGTTCCGTGGTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccAtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcgttccgtggttAGATCGAGACCCGACGC chr9:21048733-Alternative-A;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative T gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CAATACTACCGC CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcaatactaccgcAGATCGAGACCCGACGC chr9:21048733-Alternative-T;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Reference C gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt GTAGTCAACGCG CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccCtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAgtagtcaacgcgAGATCGAGACCCGACGC chr9:21048733-Reference-C;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Variant G gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CTGCGTATTGTT CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccGtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAActgcgtattgttAGATCGAGACCCGACGC chr9:21048733-Variant-G;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative T gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt AACAACCTTACG CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAaacaaccttacgAGATCGAGACCCGACGC chr9:21048733-Alternative-T;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative T gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CGTTATACCATC CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcgttataccatcAGATCGAGACCCGACGC chr9:21048733-Alternative-T;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative T gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt ATCACGCTAACC CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAatcacgctaaccAGATCGAGACCCGACGC chr9:21048733-Alternative-T;Patient-55 chr9:21048733-CG DeNovo Patient-55 intergenic NA 0.000513 -0.29 0.4 -1.28 IFNB1 29209 Alternative T gttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggt CAACTCTGGTGG CGACGCGGTCTCTCTCTgttagtgcctaagagacattgagtgaggtgctcattcatccttttaagccTtagttttcttgtctgtgaaatatttgttctaacttcacagcattgtggtAGAGGGAGACGGACGTCTCAATAAcaactctggtggAGATCGAGACCCGACGC chr9:21048733-Alternative-T;Patient-55 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative C tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgcca AGTACCAGGAGA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAagtaccaggagaAGATCGAGACCCGACGC chr9:21125717-Alternative-C;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative C tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgcca GACGACCAACCT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAgacgaccaacctAGATCGAGACCCGACGC chr9:21125717-Alternative-C;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative C tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgcca AAGCAGGCCAAG CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAaagcaggccaagAGATCGAGACCCGACGC chr9:21125717-Alternative-C;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative C tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgcca CGATTCGGTCGA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAcgattcggtcgaAGATCGAGACCCGACGC chr9:21125717-Alternative-C;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Reference A tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ATCGTTACGCAA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAatcgttacgcaaAGATCGAGACCCGACGC chr9:21125717-Reference-A;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative C tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ACGCACTTAAGG CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatCacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAacgcacttaaggAGATCGAGACCCGACGC chr9:21125717-Alternative-C;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Variant G tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgcca GGCAAGCGAGAT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAggcaagcgagatAGATCGAGACCCGACGC chr9:21125717-Variant-G;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Variant G tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgcca CGTTACGGCCTT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAcgttacggccttAGATCGAGACCCGACGC chr9:21125717-Variant-G;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Variant G tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgcca CGGATTGTGTAA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAcggattgtgtaaAGATCGAGACCCGACGC chr9:21125717-Variant-G;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Variant G tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ACAAGCTCGTTA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAacaagctcgttaAGATCGAGACCCGACGC chr9:21125717-Variant-G;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Variant G tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgcca CATAGACACCAT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatGacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAcatagacaccatAGATCGAGACCCGACGC chr9:21125717-Variant-G;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative T tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ATCTATCAGCGA CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAatctatcagcgaAGATCGAGACCCGACGC chr9:21125717-Alternative-T;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative T tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ACCGACGATGCT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAaccgacgatgctAGATCGAGACCCGACGC chr9:21125717-Alternative-T;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative T tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ACGTGGTTCTGG CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAacgtggttctggAGATCGAGACCCGACGC chr9:21125717-Alternative-T;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative T tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgcca AGCCACTTGTTC CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAagccacttgttcAGATCGAGACCCGACGC chr9:21125717-Alternative-T;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Reference A tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgcca GCAGTCAATCCT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAgcagtcaatcctAGATCGAGACCCGACGC chr9:21125717-Reference-A;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Alternative T tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgcca GTGAACTCGCCT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatTacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAgtgaactcgcctAGATCGAGACCCGACGC chr9:21125717-Alternative-T;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Reference A tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgcca ACCGTCGAACAC CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAaccgtcgaacacAGATCGAGACCCGACGC chr9:21125717-Reference-A;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Reference A tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgcca GTAGCGTACGGT CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAgtagcgtacggtAGATCGAGACCCGACGC chr9:21125717-Reference-A;Patient-91 chr9:21125717-AG Inherited Patient-91 intergenic 0.000383 0.001538462 0.37 8.03 1.46 IFNW1 16426 Reference A tattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgcca CGTACCGTAACG CGACGCGGTCTCTCTCTtattacaaatcaaatcagaattattagttgagtaggcacaaatttagcatAacaatttttgagggaaataatggcttgttcaccatttatctatctgccaAGAGGGAGACGGACGTCTCAATAAcgtaccgtaacgAGATCGAGACCCGACGC chr9:21125717-Reference-A;Patient-91 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative G tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GGAATTCGGCAG CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAggaattcggcagAGATCGAGACCCGACGC chr9:21255771-Alternative-G;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Reference C tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CGTCTATGGTGG CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcgtctatggtggAGATCGAGACCCGACGC chr9:21255771-Reference-C;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative G tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GCCTGACTACAC CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAgcctgactacacAGATCGAGACCCGACGC chr9:21255771-Alternative-G;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Reference C tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GCGATAGCATAA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAgcgatagcataaAGATCGAGACCCGACGC chr9:21255771-Reference-C;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative A tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CACGACGTAGCT CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcacgacgtagctAGATCGAGACCCGACGC chr9:21255771-Alternative-A;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative G tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GGATAGTTGTTC CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAggatagttgttcAGATCGAGACCCGACGC chr9:21255771-Alternative-G;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Reference C tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CGTCGAAGCAGA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcgtcgaagcagaAGATCGAGACCCGACGC chr9:21255771-Reference-C;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Variant T tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GTTACGTCCGCT CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAgttacgtccgctAGATCGAGACCCGACGC chr9:21255771-Variant-T;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative G tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GTGACTCTTGAA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAgtgactcttgaaAGATCGAGACCCGACGC chr9:21255771-Alternative-G;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative G tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggctta ACGTTGGTCTGG CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttGacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAacgttggtctggAGATCGAGACCCGACGC chr9:21255771-Alternative-G;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Reference C tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggctta AGGCGCGTATAC CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAaggcgcgtatacAGATCGAGACCCGACGC chr9:21255771-Reference-C;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Reference C tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggctta AGGAATGCGATA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttCacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAaggaatgcgataAGATCGAGACCCGACGC chr9:21255771-Reference-C;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative A tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggctta GTAAGAGCTGAT CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAgtaagagctgatAGATCGAGACCCGACGC chr9:21255771-Alternative-A;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative A tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CGAAGAGAGTAA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcgaagagagtaaAGATCGAGACCCGACGC chr9:21255771-Alternative-A;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative A tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CGACGACGTACT CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcgacgacgtactAGATCGAGACCCGACGC chr9:21255771-Alternative-A;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Variant T tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggctta AATAGGAACGTC CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAaataggaacgtcAGATCGAGACCCGACGC chr9:21255771-Variant-T;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Alternative A tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CAATGGCATAAG CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttAacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAcaatggcataagAGATCGAGACCCGACGC chr9:21255771-Alternative-A;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Variant T tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggctta AAGGCTAATTGC CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAaaggctaattgcAGATCGAGACCCGACGC chr9:21255771-Variant-T;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Variant T tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggctta ACTCTCGGACGA CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAAactctcggacgaAGATCGAGACCCGACGC chr9:21255771-Variant-T;Patient-63 chr9:21255771-CT DeNovo Patient-63 intergenic 6.4e-05 0.000513 0.07 3.72 0 IFNA14 15792 Variant T tcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggctta CTTGGTGTAGAT CGACGCGGTCTCTCTCTtcagctcaacctgatgggtggctcgcaggggtgtgaaggaccttggggttTacaccaagtagacctgagacactaaacatcttcctggacaggaggcttaAGAGGGAGACGGACGTCTCAATAActtggtgtagatAGATCGAGACCCGACGC chr9:21255771-Variant-T;Patient-63 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Reference A aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GACTGGCGAGAA CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgactggcgagaaAGATCGAGACCCGACGC chr9:26931001-Reference-A;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative T aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac CGAAGCAGAATC CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAcgaagcagaatcAGATCGAGACCCGACGC chr9:26931001-Alternative-T;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Reference A aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GATGGCTGCGTT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgatggctgcgttAGATCGAGACCCGACGC chr9:26931001-Reference-A;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Reference A aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GGCTATAAGCAT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAggctataagcatAGATCGAGACCCGACGC chr9:26931001-Reference-A;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Reference A aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac ATAAGCGCGGTT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAataagcgcggttAGATCGAGACCCGACGC chr9:26931001-Reference-A;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative T aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac CTATACTGATCG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAActatactgatcgAGATCGAGACCCGACGC chr9:26931001-Alternative-T;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative G aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GTGTAAGGATCA CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgtgtaaggatcaAGATCGAGACCCGACGC chr9:26931001-Alternative-G;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative G aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GCGGTACTAAGG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgcggtactaaggAGATCGAGACCCGACGC chr9:26931001-Alternative-G;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative G aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac ATCTGTAGGTGT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAatctgtaggtgtAGATCGAGACCCGACGC chr9:26931001-Alternative-G;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Reference A aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac CGTCTGATGTGG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaAgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAcgtctgatgtggAGATCGAGACCCGACGC chr9:26931001-Reference-A;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative T aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac AGCGGTGTGAAC CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAagcggtgtgaacAGATCGAGACCCGACGC chr9:26931001-Alternative-T;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative G aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GTTCGTGCTTAT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgttcgtgcttatAGATCGAGACCCGACGC chr9:26931001-Alternative-G;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative T aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac AGGTATCATTCG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAaggtatcattcgAGATCGAGACCCGACGC chr9:26931001-Alternative-T;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative T aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac CTGAAGTTCCAA CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaTgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAActgaagttccaaAGATCGAGACCCGACGC chr9:26931001-Alternative-T;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Alternative G aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GATCGCATGTCG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaGgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAgatcgcatgtcgAGATCGAGACCCGACGC chr9:26931001-Alternative-G;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Variant C aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GGCGATAGACCT CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAggcgatagacctAGATCGAGACCCGACGC chr9:26931001-Variant-C;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Variant C aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac AAGACGCACCGA CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAaagacgcaccgaAGATCGAGACCCGACGC chr9:26931001-Variant-C;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Variant C aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac GGTTAAGGTGCG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAggttaaggtgcgAGATCGAGACCCGACGC chr9:26931001-Variant-C;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Variant C aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac AACTTAGGATCG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAaacttaggatcgAGATCGAGACCCGACGC chr9:26931001-Variant-C;Patient-94 chr9:26931001-AC DeNovo Patient-94 intronic PLAA NA 4.95e-05 NA NA NA PLAA 16466 Variant C aaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaac ATTGGCGTTCGG CGACGCGGTCTCTCTCTaaataccatttcccagtaaaagaaaaaaaaaaacaggacttcttggcaaaCgtgctggtttgaggtctagagcaagaagtgtacaaactgaacctagaacAGAGGGAGACGGACGTCTCAATAAattggcgttcggAGATCGAGACCCGACGC chr9:26931001-Variant-C;Patient-94 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Variant G tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CGTTCGCTAGTC CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAcgttcgctagtcAGATCGAGACCCGACGC chr9:27096769-Variant-G;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Reference A tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CTAATCGAGTGG CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAActaatcgagtggAGATCGAGACCCGACGC chr9:27096769-Reference-A;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative T tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GTATCGCCTGAG CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgtatcgcctgagAGATCGAGACCCGACGC chr9:27096769-Alternative-T;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative C tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GTTGGCACTATA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgttggcactataAGATCGAGACCCGACGC chr9:27096769-Alternative-C;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative C tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt AGGCTGACTAAG CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAaggctgactaagAGATCGAGACCCGACGC chr9:27096769-Alternative-C;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative C tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GCGACGAATCGA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgcgacgaatcgaAGATCGAGACCCGACGC chr9:27096769-Alternative-C;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative C tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CGGCAAGTTCGT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAcggcaagttcgtAGATCGAGACCCGACGC chr9:27096769-Alternative-C;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Reference A tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt ACCTGGTATCAA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAacctggtatcaaAGATCGAGACCCGACGC chr9:27096769-Reference-A;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative T tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt ATTCGACCAAGG CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAattcgaccaaggAGATCGAGACCCGACGC chr9:27096769-Alternative-T;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative C tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt ACAAGCGTCTGG CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagCgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAacaagcgtctggAGATCGAGACCCGACGC chr9:27096769-Alternative-C;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Reference A tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GAGCAGTTCCGT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgagcagttccgtAGATCGAGACCCGACGC chr9:27096769-Reference-A;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative T tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt AATACGTTCCGA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAaatacgttccgaAGATCGAGACCCGACGC chr9:27096769-Alternative-T;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Reference A tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GAGAGTTAGACA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgagagttagacaAGATCGAGACCCGACGC chr9:27096769-Reference-A;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Reference A tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CGTGTGCGACTT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagAgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAcgtgtgcgacttAGATCGAGACCCGACGC chr9:27096769-Reference-A;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative T tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt AGGTGCGGTCTA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAaggtgcggtctaAGATCGAGACCCGACGC chr9:27096769-Alternative-T;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Variant G tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt GCGTAGTAGCGA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAgcgtagtagcgaAGATCGAGACCCGACGC chr9:27096769-Variant-G;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Variant G tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt ATTCATCCGGTT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAattcatccggttAGATCGAGACCCGACGC chr9:27096769-Variant-G;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Variant G tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CTCGCAACGCAA CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAActcgcaacgcaaAGATCGAGACCCGACGC chr9:27096769-Variant-G;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Alternative T tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt CGAAGACCGAAT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagTgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAcgaagaccgaatAGATCGAGACCCGACGC chr9:27096769-Alternative-T;Patient-85 chr9:27096769-AG Inherited Patient-85 intergenic 0.000223 0.000513 0.13 4.73 0.16 TEK 12377 Variant G tggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgt ACCGCAATCGTT CGACGCGGTCTCTCTCTtggctgcactgtgtccatgccgtagggatctgcggaaggttgaacttaagGgtgatgacctaggatatctggcagaaagtatttctaagcaactaagtgtAGAGGGAGACGGACGTCTCAATAAaccgcaatcgttAGATCGAGACCCGACGC chr9:27096769-Variant-G;Patient-85 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Variant G tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag ACTGTCTAACGA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAactgtctaacgaAGATCGAGACCCGACGC chr9:27191861-Variant-G;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Variant G tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CAAGGTAATGCA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAcaaggtaatgcaAGATCGAGACCCGACGC chr9:27191861-Variant-G;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Variant G tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CGGTATGACGAG CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAcggtatgacgagAGATCGAGACCCGACGC chr9:27191861-Variant-G;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Variant G tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GTATCAGAGGCG CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAgtatcagaggcgAGATCGAGACCCGACGC chr9:27191861-Variant-G;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Variant G tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag AACCGGATTGTT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacGtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAaaccggattgttAGATCGAGACCCGACGC chr9:27191861-Variant-G;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative C tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GGACCTTGGTAA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAggaccttggtaaAGATCGAGACCCGACGC chr9:27191861-Alternative-C;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative C tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag AAGCAGCGTGGT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAaagcagcgtggtAGATCGAGACCCGACGC chr9:27191861-Alternative-C;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative T tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GTTGGTGTAAGA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAgttggtgtaagaAGATCGAGACCCGACGC chr9:27191861-Alternative-T;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative T tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CATCCAAGATAC CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAcatccaagatacAGATCGAGACCCGACGC chr9:27191861-Alternative-T;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Reference A tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GGTTGATACCGC CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAggttgataccgcAGATCGAGACCCGACGC chr9:27191861-Reference-A;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Reference A tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CACTAGACGACT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAcactagacgactAGATCGAGACCCGACGC chr9:27191861-Reference-A;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Reference A tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GTTCTGTCTAAC CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAgttctgtctaacAGATCGAGACCCGACGC chr9:27191861-Reference-A;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative C tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GTTACTCAGACT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAgttactcagactAGATCGAGACCCGACGC chr9:27191861-Alternative-C;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative T tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag GTTCCACGTCGT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAgttccacgtcgtAGATCGAGACCCGACGC chr9:27191861-Alternative-T;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative T tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag AACTCGTAGTCA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAaactcgtagtcaAGATCGAGACCCGACGC chr9:27191861-Alternative-T;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative T tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CTAGATGTCCTA CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacTtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAActagatgtcctaAGATCGAGACCCGACGC chr9:27191861-Alternative-T;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Reference A tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CTGCTTGACCAC CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAActgcttgaccacAGATCGAGACCCGACGC chr9:27191861-Reference-A;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative C tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag AGCCGCATCAAG CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAagccgcatcaagAGATCGAGACCCGACGC chr9:27191861-Alternative-C;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Alternative C tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag CGAAGAATCAGT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacCtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAcgaagaatcagtAGATCGAGACCCGACGC chr9:27191861-Alternative-C;Patient-22 chr9:27191861-AG DeNovo Patient-22 intronic TEK NA 4.95e-05 0.07 3.75 -1.48 TEK 82713 Reference A tgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcag ACGCACTTAGGT CGACGCGGTCTCTCTCTtgtctacaagtggacatccacaaagtggtcttctaagaactgttaaacacAtcccagttttttttcttaccaagtaggaatttatcatatgataaggcagAGAGGGAGACGGACGTCTCAATAAacgcacttaggtAGATCGAGACCCGACGC chr9:27191861-Reference-A;Patient-22 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative G aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata ATTATAGCGTGC CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAattatagcgtgcAGATCGAGACCCGACGC chr9:2728479-Alternative-G;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative G aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GGTTAACCGAAG CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAggttaaccgaagAGATCGAGACCCGACGC chr9:2728479-Alternative-G;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Variant T aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CGATGAAGCCAA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcgatgaagccaaAGATCGAGACCCGACGC chr9:2728479-Variant-T;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative G aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CGTTGGCAAGTC CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcgttggcaagtcAGATCGAGACCCGACGC chr9:2728479-Alternative-G;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Variant T aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata ACGAGCGTCCTA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAacgagcgtcctaAGATCGAGACCCGACGC chr9:2728479-Variant-T;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Variant T aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CGTTCTGACTTA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcgttctgacttaAGATCGAGACCCGACGC chr9:2728479-Variant-T;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative A aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CGTCACGACTAA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcgtcacgactaaAGATCGAGACCCGACGC chr9:2728479-Alternative-A;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative G aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GCCGCTATACGT CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAgccgctatacgtAGATCGAGACCCGACGC chr9:2728479-Alternative-G;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Variant T aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GTATTCGTCCTA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAgtattcgtcctaAGATCGAGACCCGACGC chr9:2728479-Variant-T;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative G aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GTTACCTGTCGC CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaGtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAgttacctgtcgcAGATCGAGACCCGACGC chr9:2728479-Alternative-G;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Variant T aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CGTCCGGTAACT CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaTtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcgtccggtaactAGATCGAGACCCGACGC chr9:2728479-Variant-T;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative A aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CACGATGGACGA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcacgatggacgaAGATCGAGACCCGACGC chr9:2728479-Alternative-A;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative A aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CAGTACGGTAGT CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcagtacggtagtAGATCGAGACCCGACGC chr9:2728479-Alternative-A;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Reference C aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GCATAGACCTGT CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAgcatagacctgtAGATCGAGACCCGACGC chr9:2728479-Reference-C;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Reference C aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata AATAAGTGACGC CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAaataagtgacgcAGATCGAGACCCGACGC chr9:2728479-Reference-C;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Reference C aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CAAGGACCTTAT CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcaaggaccttatAGATCGAGACCCGACGC chr9:2728479-Reference-C;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Reference C aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata AGCAGGTTACGG CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAagcaggttacggAGATCGAGACCCGACGC chr9:2728479-Reference-C;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative A aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata GACAATGGCGAA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAgacaatggcgaaAGATCGAGACCCGACGC chr9:2728479-Alternative-A;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Alternative A aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata CAGATAAGGAGA CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaAtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAcagataaggagaAGATCGAGACCCGACGC chr9:2728479-Alternative-A;Patient-78 chr9:2728479-CT Inherited Patient-78 intronic KCNV2 NA 4.95e-05 1.82 17.59 3.88 KCNV2 10952 Reference C aaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaata AGTATCTCGCGG CGACGCGGTCTCTCTCTaaaaacagtccccaaggaattttcacagggttttctctggtaactgataaCtagtcccatggtatctgcattttaaaacagaagcttgttaacctaaataAGAGGGAGACGGACGTCTCAATAAagtatctcgcggAGATCGAGACCCGACGC chr9:2728479-Reference-C;Patient-78 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Variant A gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg ACGAATGTCGTC CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAacgaatgtcgtcAGATCGAGACCCGACGC chr9:32332858-Variant-A;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Variant A gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg ACGATGCTACGT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAacgatgctacgtAGATCGAGACCCGACGC chr9:32332858-Variant-A;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative C gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GTTAGCAAGTAC CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAgttagcaagtacAGATCGAGACCCGACGC chr9:32332858-Alternative-C;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Reference G gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GTCTATCACGTT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAgtctatcacgttAGATCGAGACCCGACGC chr9:32332858-Reference-G;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Reference G gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GGAGTCTGACAG CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAggagtctgacagAGATCGAGACCCGACGC chr9:32332858-Reference-G;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative C gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg CGCTCAACATAA CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAcgctcaacataaAGATCGAGACCCGACGC chr9:32332858-Alternative-C;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative C gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg ATTGACGCGCCT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAattgacgcgcctAGATCGAGACCCGACGC chr9:32332858-Alternative-C;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative C gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AATGCTCGTACA CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAaatgctcgtacaAGATCGAGACCCGACGC chr9:32332858-Alternative-C;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative T gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AACGCAAGAGGT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAaacgcaagaggtAGATCGAGACCCGACGC chr9:32332858-Alternative-T;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative T gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GACGCGAAGCTT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAgacgcgaagcttAGATCGAGACCCGACGC chr9:32332858-Alternative-T;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative T gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AACGACGGCTGA CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAaacgacggctgaAGATCGAGACCCGACGC chr9:32332858-Alternative-T;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative T gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg CATTCAACCTGT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAcattcaacctgtAGATCGAGACCCGACGC chr9:32332858-Alternative-T;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Reference G gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AATCTGCGAACT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAaatctgcgaactAGATCGAGACCCGACGC chr9:32332858-Reference-G;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Reference G gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GCGCCTATAGCA CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAgcgcctatagcaAGATCGAGACCCGACGC chr9:32332858-Reference-G;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Variant A gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GGTGAATCTTGT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAggtgaatcttgtAGATCGAGACCCGACGC chr9:32332858-Variant-A;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative T gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AGTAAGGCTGCG CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctTgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAagtaaggctgcgAGATCGAGACCCGACGC chr9:32332858-Alternative-T;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Reference G gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GGAACGCTATAA CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctGgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAggaacgctataaAGATCGAGACCCGACGC chr9:32332858-Reference-G;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Variant A gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GGTGTCTTACGG CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAggtgtcttacggAGATCGAGACCCGACGC chr9:32332858-Variant-A;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Variant A gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg GGTCACTATCCT CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctAgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAggtcactatcctAGATCGAGACCCGACGC chr9:32332858-Variant-A;Patient-55 chr9:32332858-GA DeNovo Patient-55 intergenic 0.000223 0.000512821 -0.44 0.14 -3.02 ACO1 51742 Alternative C gggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctg AGAATATAGGCG CGACGCGGTCTCTCTCTgggaaatgaaaggtgctgcagcaagctgtctgacatatgcataaggatctCgaagaaaccccttgactcagaaaatcttgcaatgtttcacaagaggctgAGAGGGAGACGGACGTCTCAATAAagaatataggcgAGATCGAGACCCGACGC chr9:32332858-Alternative-C;Patient-55 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Variant G ccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GCATTGTGTGCG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgcattgtgtgcgAGATCGAGACCCGACGC chr9:32680996-Variant-G;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Variant G ccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca ATCTATAACGCG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAatctataacgcgAGATCGAGACCCGACGC chr9:32680996-Variant-G;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Variant G ccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GATTCGATGCTA CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgattcgatgctaAGATCGAGACCCGACGC chr9:32680996-Variant-G;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Reference A ccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca ATCGCTCGGCTT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAatcgctcggcttAGATCGAGACCCGACGC chr9:32680996-Reference-A;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative T ccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CAGCGTCAGTTA CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAcagcgtcagttaAGATCGAGACCCGACGC chr9:32680996-Alternative-T;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Variant G ccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CATGAGTACAAG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAcatgagtacaagAGATCGAGACCCGACGC chr9:32680996-Variant-G;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative T ccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CGGTGCGTGAAT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAcggtgcgtgaatAGATCGAGACCCGACGC chr9:32680996-Alternative-T;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative T ccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GGTACGCCAATT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAggtacgccaattAGATCGAGACCCGACGC chr9:32680996-Alternative-T;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative T ccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GTCGCAACACGT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgtcgcaacacgtAGATCGAGACCCGACGC chr9:32680996-Alternative-T;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative T ccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CGAAGTGAATCA CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacTataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAcgaagtgaatcaAGATCGAGACCCGACGC chr9:32680996-Alternative-T;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Variant G ccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CAGCGCGTAGTT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacGataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAcagcgcgtagttAGATCGAGACCCGACGC chr9:32680996-Variant-G;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative C ccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca ACAGATGCTAAG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAacagatgctaagAGATCGAGACCCGACGC chr9:32680996-Alternative-C;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Reference A ccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GTTGGCTCTTCG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgttggctcttcgAGATCGAGACCCGACGC chr9:32680996-Reference-A;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative C ccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca AGCGGCTGATGA CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAagcggctgatgaAGATCGAGACCCGACGC chr9:32680996-Alternative-C;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative C ccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca AATGATCGTCGT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAaatgatcgtcgtAGATCGAGACCCGACGC chr9:32680996-Alternative-C;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Reference A ccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GTTGGTCAAGTT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgttggtcaagttAGATCGAGACCCGACGC chr9:32680996-Reference-A;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Reference A ccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca CTAAGCGATTCT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAActaagcgattctAGATCGAGACCCGACGC chr9:32680996-Reference-A;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Reference A ccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GATTCGGTTCGG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacAataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgattcggttcggAGATCGAGACCCGACGC chr9:32680996-Reference-A;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative C ccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GTTCCTAATAGG CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgttcctaataggAGATCGAGACCCGACGC chr9:32680996-Alternative-C;Patient-61 chr9:32680996-AG DeNovo Patient-61 intergenic NA 0.000513 -0.01 2.45 0.43 TAF1L 45328 Alternative C ccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagca GTTCTGAGGATT CGACGCGGTCTCTCTCTccttttttgcttcagtttcctaattggtaaagggaaataataataataacCataagaagaagataaaggaggaggagcaggagaaggaagatgagcagcaAGAGGGAGACGGACGTCTCAATAAgttctgaggattAGATCGAGACCCGACGC chr9:32680996-Alternative-C;Patient-61 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative C ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACTCGTCCATAC CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAactcgtccatacAGATCGAGACCCGACGC chr9:33014379-Alternative-C;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative C ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata GCATACCGGCAT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAgcataccggcatAGATCGAGACCCGACGC chr9:33014379-Alternative-C;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative C ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata AGGCGCCTACAT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAaggcgcctacatAGATCGAGACCCGACGC chr9:33014379-Alternative-C;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative T ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata GTCGACGCATCA CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAgtcgacgcatcaAGATCGAGACCCGACGC chr9:33014379-Alternative-T;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative T ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata GCATAGAGCGGT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAgcatagagcggtAGATCGAGACCCGACGC chr9:33014379-Alternative-T;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Variant A ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata CGTAGTATCCGC CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAcgtagtatccgcAGATCGAGACCCGACGC chr9:33014379-Variant-A;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Variant A ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata CGAGCTCTAAGT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAcgagctctaagtAGATCGAGACCCGACGC chr9:33014379-Variant-A;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative T ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata AAGAATGGTACG CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAaagaatggtacgAGATCGAGACCCGACGC chr9:33014379-Alternative-T;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative C ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACCGTATTCACA CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAaccgtattcacaAGATCGAGACCCGACGC chr9:33014379-Alternative-C;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative T ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata AAGTTCACAGCT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAaagttcacagctAGATCGAGACCCGACGC chr9:33014379-Alternative-T;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Variant A ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACAACGCATAAG CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAacaacgcataagAGATCGAGACCCGACGC chr9:33014379-Variant-A;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Variant A ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata CGCACTTAACTT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAcgcacttaacttAGATCGAGACCCGACGC chr9:33014379-Variant-A;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Reference G ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACGTAAGTTGGT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAacgtaagttggtAGATCGAGACCCGACGC chr9:33014379-Reference-G;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative T ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata CTCGGACTGGAT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaTaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAActcggactggatAGATCGAGACCCGACGC chr9:33014379-Alternative-T;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Reference G ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACTTCGCGTCCT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAacttcgcgtcctAGATCGAGACCCGACGC chr9:33014379-Reference-G;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Reference G ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata ACTGTTATCGCA CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAactgttatcgcaAGATCGAGACCCGACGC chr9:33014379-Reference-G;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Reference G ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata AGGACGATGAAC CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAaggacgatgaacAGATCGAGACCCGACGC chr9:33014379-Reference-G;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Alternative C ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata GCGTTGCTGGAA CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaCaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAgcgttgctggaaAGATCGAGACCCGACGC chr9:33014379-Alternative-C;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Variant A ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata AGTGTCGTGCGT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaAaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAagtgtcgtgcgtAGATCGAGACCCGACGC chr9:33014379-Variant-A;Patient-55 chr9:33014379-GA Inherited Patient-55 intergenic 0.000318 0.00103 0.05 3.5 -0.36 DNAJA1 10829 Reference G ttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaata GGAACATAACGT CGACGCGGTCTCTCTCTttggagatgtgggaaatttaacacaaaaatatctaaagggcagtttattaGaaatcatggtaggtggtagaaaatggcagtttaacccaacagtagaataAGAGGGAGACGGACGTCTCAATAAggaacataacgtAGATCGAGACCCGACGC chr9:33014379-Reference-G;Patient-55 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Variant G ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt ACGTCTATTGTC CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAacgtctattgtcAGATCGAGACCCGACGC chr9:33303098-Variant-G;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Variant G ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt GGTACGTTCACG CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAggtacgttcacgAGATCGAGACCCGACGC chr9:33303098-Variant-G;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Variant G ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AGCGTGGTTCAC CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAagcgtggttcacAGATCGAGACCCGACGC chr9:33303098-Variant-G;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Variant G ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt GCGTCATTCTAT CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAgcgtcattctatAGATCGAGACCCGACGC chr9:33303098-Variant-G;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative T ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt ATCTGCGTGTAA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAatctgcgtgtaaAGATCGAGACCCGACGC chr9:33303098-Alternative-T;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Reference A ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt ACTCACCGGTAT CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAactcaccggtatAGATCGAGACCCGACGC chr9:33303098-Reference-A;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Reference A ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AACGGTGAACGC CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAaacggtgaacgcAGATCGAGACCCGACGC chr9:33303098-Reference-A;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative C ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt CAGCGATCTCGA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAcagcgatctcgaAGATCGAGACCCGACGC chr9:33303098-Alternative-C;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative T ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt GGTCACGTAGCT CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAggtcacgtagctAGATCGAGACCCGACGC chr9:33303098-Alternative-T;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative C ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt ACCATGTTAGGT CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAaccatgttaggtAGATCGAGACCCGACGC chr9:33303098-Alternative-C;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Variant G ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt GATCAATCGACG CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaGtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAgatcaatcgacgAGATCGAGACCCGACGC chr9:33303098-Variant-G;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative T ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AGACGACGGTAC CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAagacgacggtacAGATCGAGACCCGACGC chr9:33303098-Alternative-T;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Reference A ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt CGTTCACGCCAA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAcgttcacgccaaAGATCGAGACCCGACGC chr9:33303098-Reference-A;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Reference A ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt CTTGATGCTGAA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAActtgatgctgaaAGATCGAGACCCGACGC chr9:33303098-Reference-A;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative C ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt ACAGCTTCTCGA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAacagcttctcgaAGATCGAGACCCGACGC chr9:33303098-Alternative-C;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Reference A ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt GAGTTACCATGA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaAtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAgagttaccatgaAGATCGAGACCCGACGC chr9:33303098-Reference-A;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative T ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt CGAATAACGTGA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAcgaataacgtgaAGATCGAGACCCGACGC chr9:33303098-Alternative-T;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative C ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AGTGCTATCAGG CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAagtgctatcaggAGATCGAGACCCGACGC chr9:33303098-Alternative-C;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative C ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AGCATTGTGCGC CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaCtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAagcattgtgcgcAGATCGAGACCCGACGC chr9:33303098-Alternative-C;Patient-101 chr9:33303098-AG DeNovo Patient-101 intronic NFX1 NA 0.000247451 0.1 4.19 -1.91 NFX1 12679 Alternative T ttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagctttt AGCAGTCAATGA CGACGCGGTCTCTCTCTttccttaaatgtctgatatgcttaacattgaaattattaccactacttcaTtattgtgtcttcctatagatttaaatttttttaattacatgtagcttttAGAGGGAGACGGACGTCTCAATAAagcagtcaatgaAGATCGAGACCCGACGC chr9:33303098-Alternative-T;Patient-101 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Variant A agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag ATCGGTGTTATC CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAatcggtgttatcAGATCGAGACCCGACGC chr9:34348123-Variant-A;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative C agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GATTACTCGCTT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgattactcgcttAGATCGAGACCCGACGC chr9:34348123-Alternative-C;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative C agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GGTATGCTTAGT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAggtatgcttagtAGATCGAGACCCGACGC chr9:34348123-Alternative-C;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Variant A agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTTATGGATGCT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgttatggatgctAGATCGAGACCCGACGC chr9:34348123-Variant-A;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative T agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag AGTATCGGAATC CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAagtatcggaatcAGATCGAGACCCGACGC chr9:34348123-Alternative-T;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Variant A agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTAGCTTGAGCA CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgtagcttgagcaAGATCGAGACCCGACGC chr9:34348123-Variant-A;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Variant A agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTACGAACGCAT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgtacgaacgcatAGATCGAGACCCGACGC chr9:34348123-Variant-A;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Variant A agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag CACGACGCTAAT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaAgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAcacgacgctaatAGATCGAGACCCGACGC chr9:34348123-Variant-A;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative C agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag AGCAATCAGACA CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAagcaatcagacaAGATCGAGACCCGACGC chr9:34348123-Alternative-C;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative C agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GCGAACGCTGTT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgcgaacgctgttAGATCGAGACCCGACGC chr9:34348123-Alternative-C;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative T agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag CTGAAGTGGCGT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAActgaagtggcgtAGATCGAGACCCGACGC chr9:34348123-Alternative-T;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative C agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GCGCTCCTTGTT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaCgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgcgctccttgttAGATCGAGACCCGACGC chr9:34348123-Alternative-C;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative T agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GGTTCATGTGAT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAggttcatgtgatAGATCGAGACCCGACGC chr9:34348123-Alternative-T;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Reference G agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag CATGTGAGGCGA CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAcatgtgaggcgaAGATCGAGACCCGACGC chr9:34348123-Reference-G;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative T agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTATCTAAGTCG CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgtatctaagtcgAGATCGAGACCCGACGC chr9:34348123-Alternative-T;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Reference G agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag AAGTCGCGAGAA CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAaagtcgcgagaaAGATCGAGACCCGACGC chr9:34348123-Reference-G;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Reference G agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTCGGCAGAGAT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgtcggcagagatAGATCGAGACCCGACGC chr9:34348123-Reference-G;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Reference G agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag GTCGGATAGACG CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAgtcggatagacgAGATCGAGACCCGACGC chr9:34348123-Reference-G;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Reference G agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag ATTCTGTCGCTA CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaGgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAAattctgtcgctaAGATCGAGACCCGACGC chr9:34348123-Reference-G;Patient-49 chr9:34348123-GA DeNovo Patient-49 intergenic NA 0.000513 0.03 3.09 -1.19 NUDT2 18618 Alternative T agccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaag CTCGTCCTAGAT CGACGCGGTCTCTCTCTagccaggcatggtggtgtgtacctgtagacccagctactcaggagactgaTgaggggagaattgcttaagcccaggagggtgaggctgcagtgaaccaagAGAGGGAGACGGACGTCTCAATAActcgtcctagatAGATCGAGACCCGACGC chr9:34348123-Alternative-T;Patient-49 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Variant A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt AGTCGGACATGG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAagtcggacatggAGATCGAGACCCGACGC chr9:34720367-Variant-A;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Variant A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt AGGCTCTCCTAT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAaggctctcctatAGATCGAGACCCGACGC chr9:34720367-Variant-A;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Variant A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CGTATATCGCGG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAcgtatatcgcggAGATCGAGACCCGACGC chr9:34720367-Variant-A;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Variant A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GGCTTAAGTAAG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAggcttaagtaagAGATCGAGACCCGACGC chr9:34720367-Variant-A;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Variant A ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GGTATCTAACAG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccAggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAggtatctaacagAGATCGAGACCCGACGC chr9:34720367-Variant-A;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt ATTAAGGTCGAG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAattaaggtcgagAGATCGAGACCCGACGC chr9:34720367-Reference-G;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GTTGTAGGCGGT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAgttgtaggcggtAGATCGAGACCCGACGC chr9:34720367-Alternative-C;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CTCATATGCTGT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAActcatatgctgtAGATCGAGACCCGACGC chr9:34720367-Alternative-T;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CGTTGTCATCTA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAcgttgtcatctaAGATCGAGACCCGACGC chr9:34720367-Alternative-T;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt ATAAGCCGTAAC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAataagccgtaacAGATCGAGACCCGACGC chr9:34720367-Reference-G;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GATTGCCTAGAT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAgattgcctagatAGATCGAGACCCGACGC chr9:34720367-Alternative-C;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GTAGTGACGTGG CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAgtagtgacgtggAGATCGAGACCCGACGC chr9:34720367-Alternative-C;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CGACCGAAGCTT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAcgaccgaagcttAGATCGAGACCCGACGC chr9:34720367-Alternative-T;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt ACGTAATACCGC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAacgtaataccgcAGATCGAGACCCGACGC chr9:34720367-Alternative-T;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt GCATGTCTGATT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAgcatgtctgattAGATCGAGACCCGACGC chr9:34720367-Alternative-C;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative C ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt AGTATAGCACCT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccCggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAagtatagcacctAGATCGAGACCCGACGC chr9:34720367-Alternative-C;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt AAGATCGTGTTC CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAaagatcgtgttcAGATCGAGACCCGACGC chr9:34720367-Reference-G;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Alternative T ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CTTGACCGATAA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccTggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAActtgaccgataaAGATCGAGACCCGACGC chr9:34720367-Alternative-T;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt ACAAGCGGCGAT CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAacaagcggcgatAGATCGAGACCCGACGC chr9:34720367-Reference-G;Patient-69 chr9:34720367-GA DeNovo Patient-69 intergenic 0.000618 0.000513 -0.15 1.03 0 ARID3C 92355 Reference G ctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagt CGACGATCTTAA CGACGCGGTCTCTCTCTctgtagtcccagctactcgggaggctgaggcaggagaatggcgtgaacccGggaagcggagcttgcagtgagccgagattgcgccactgcagcccgcagtAGAGGGAGACGGACGTCTCAATAAcgacgatcttaaAGATCGAGACCCGACGC chr9:34720367-Reference-G;Patient-69 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative G caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca ACATCTTCCAAG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAacatcttccaagAGATCGAGACCCGACGC chr9:35130454-Alternative-G;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative G caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca ACCTCCAACTTA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAacctccaacttaAGATCGAGACCCGACGC chr9:35130454-Alternative-G;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative G caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AGAGTCTATCCA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAagagtctatccaAGATCGAGACCCGACGC chr9:35130454-Alternative-G;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative A caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GTACAAGCCGGT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAgtacaagccggtAGATCGAGACCCGACGC chr9:35130454-Alternative-A;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Variant T caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca CAGTTGATTCGT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAcagttgattcgtAGATCGAGACCCGACGC chr9:35130454-Variant-T;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Reference C caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GTAGTATACAGG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAgtagtatacaggAGATCGAGACCCGACGC chr9:35130454-Reference-C;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Variant T caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca CTGCGCCTGTTA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAActgcgcctgttaAGATCGAGACCCGACGC chr9:35130454-Variant-T;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Variant T caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AATCAACCGACT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAaatcaaccgactAGATCGAGACCCGACGC chr9:35130454-Variant-T;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Variant T caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AGTTAGACACCT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAagttagacacctAGATCGAGACCCGACGC chr9:35130454-Variant-T;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative G caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca ATTGAGTTAGCG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAattgagttagcgAGATCGAGACCCGACGC chr9:35130454-Alternative-G;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Reference C caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AGTCTCGTACTT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAagtctcgtacttAGATCGAGACCCGACGC chr9:35130454-Reference-C;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Reference C caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca CGCTCGACCTTA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAcgctcgaccttaAGATCGAGACCCGACGC chr9:35130454-Reference-C;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative G caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AGTACTCGGTTA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaGaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAagtactcggttaAGATCGAGACCCGACGC chr9:35130454-Alternative-G;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Variant T caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GTAGAAGCATCG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaTaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAgtagaagcatcgAGATCGAGACCCGACGC chr9:35130454-Variant-T;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative A caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GGCTGATCTAAT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAggctgatctaatAGATCGAGACCCGACGC chr9:35130454-Alternative-A;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative A caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AAGATCATGTGG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAaagatcatgtggAGATCGAGACCCGACGC chr9:35130454-Alternative-A;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative A caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GTGTAATAGTGG CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAgtgtaatagtggAGATCGAGACCCGACGC chr9:35130454-Alternative-A;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Alternative A caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca AGATCGATCCAT CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaAaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAagatcgatccatAGATCGAGACCCGACGC chr9:35130454-Alternative-A;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Reference C caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca GGACGGACATAA CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAggacggacataaAGATCGAGACCCGACGC chr9:35130454-Reference-C;Patient-89 chr9:35130454-CT Inherited Patient-89 intergenic NA 0.000513 -0.19 0.78 0 PIGO 33855 Reference C caggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttca CATGCTTCGCAC CGACGCGGTCTCTCTCTcaggacaacccagaaagtacaagcatgtcatgaatagtcagtgtaagtcaCaataagaggatttatattaaaaaaaaacacaaaaacttttatatgttcaAGAGGGAGACGGACGTCTCAATAAcatgcttcgcacAGATCGAGACCCGACGC chr9:35130454-Reference-C;Patient-89 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Variant G ctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CACGTCGGAATC CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcacgtcggaatcAGATCGAGACCCGACGC chr9:4229798-Variant-G;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Variant G ctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt ACGTATGCAGAT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAacgtatgcagatAGATCGAGACCCGACGC chr9:4229798-Variant-G;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative A ctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GCCGAATTCTAT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgccgaattctatAGATCGAGACCCGACGC chr9:4229798-Alternative-A;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative A ctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GATGGCGAAGCA CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgatggcgaagcaAGATCGAGACCCGACGC chr9:4229798-Alternative-A;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative T ctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GTTGGTCGTACG CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgttggtcgtacgAGATCGAGACCCGACGC chr9:4229798-Alternative-T;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Variant G ctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GCGGAGGACTTA CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgcggaggacttaAGATCGAGACCCGACGC chr9:4229798-Variant-G;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Reference C ctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CGAGAGCCTATC CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcgagagcctatcAGATCGAGACCCGACGC chr9:4229798-Reference-C;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Variant G ctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GCGATGAGATAT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgcgatgagatatAGATCGAGACCCGACGC chr9:4229798-Variant-G;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Reference C ctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CGCGTTCGGTAT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcgcgttcggtatAGATCGAGACCCGACGC chr9:4229798-Reference-C;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Reference C ctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GCGTGGAAGACA CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgcgtggaagacaAGATCGAGACCCGACGC chr9:4229798-Reference-C;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Variant G ctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GTCGCTGATCCT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaGatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgtcgctgatcctAGATCGAGACCCGACGC chr9:4229798-Variant-G;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative A ctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CATCTGCCACGT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcatctgccacgtAGATCGAGACCCGACGC chr9:4229798-Alternative-A;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Reference C ctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GGTAACGTGCTA CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAggtaacgtgctaAGATCGAGACCCGACGC chr9:4229798-Reference-C;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Reference C ctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt AGGAGATACGCT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaCatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAaggagatacgctAGATCGAGACCCGACGC chr9:4229798-Reference-C;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative T ctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt AGCTCGCGTACT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAagctcgcgtactAGATCGAGACCCGACGC chr9:4229798-Alternative-T;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative A ctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CGTCGAGGTACT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcgtcgaggtactAGATCGAGACCCGACGC chr9:4229798-Alternative-A;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative T ctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt CGGACCATACAG CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAcggaccatacagAGATCGAGACCCGACGC chr9:4229798-Alternative-T;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative A ctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GGACATTGCGAG CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaAatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAggacattgcgagAGATCGAGACCCGACGC chr9:4229798-Alternative-A;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative T ctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt GATGTATTCGCA CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAgatgtattcgcaAGATCGAGACCCGACGC chr9:4229798-Alternative-T;Patient-20 chr9:4229798-CG DeNovo Patient-20 intronic GLIS3 NA 4.95e-05 1.69 16.73 3.21 GLIS3 70236 Alternative T ctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataattt ACCAACGAGTGT CGACGCGGTCTCTCTCTctattttataacacatataaaagctaagtggaaatttatacttgaatacaTatcacatcaaatgtcacatctcctgaaaattggttcctgagaataatttAGAGGGAGACGGACGTCTCAATAAaccaacgagtgtAGATCGAGACCCGACGC chr9:4229798-Alternative-T;Patient-20 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative C acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc AGGTGGTGGCTA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAaggtggtggctaAGATCGAGACCCGACGC chr9:4260343-Alternative-C;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative C acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CGTCTTCGCACA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcgtcttcgcacaAGATCGAGACCCGACGC chr9:4260343-Alternative-C;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Reference G acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc ACAGCTCAAGTT CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAacagctcaagttAGATCGAGACCCGACGC chr9:4260343-Reference-G;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Reference G acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CAGCGACACGTT CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcagcgacacgttAGATCGAGACCCGACGC chr9:4260343-Reference-G;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Reference G acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GGTAGACCATCG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAggtagaccatcgAGATCGAGACCCGACGC chr9:4260343-Reference-G;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative T acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GATATTCGCGGC CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAgatattcgcggcAGATCGAGACCCGACGC chr9:4260343-Alternative-T;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative C acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CTATCTGATTCG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAActatctgattcgAGATCGAGACCCGACGC chr9:4260343-Alternative-C;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Variant A acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GCCAATAGGTGG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAgccaataggtggAGATCGAGACCCGACGC chr9:4260343-Variant-A;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative C acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GTTCCAATGGCG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAgttccaatggcgAGATCGAGACCCGACGC chr9:4260343-Alternative-C;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Reference G acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CGCGTCTGGTAA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcgcgtctggtaaAGATCGAGACCCGACGC chr9:4260343-Reference-G;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative T acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CAACTCTGACGG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcaactctgacggAGATCGAGACCCGACGC chr9:4260343-Alternative-T;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative C acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc AGAACGAATCGT CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcCatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAagaacgaatcgtAGATCGAGACCCGACGC chr9:4260343-Alternative-C;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Reference G acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GGTCAACACACT CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcGatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAggtcaacacactAGATCGAGACCCGACGC chr9:4260343-Reference-G;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative T acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GCCGAATATCTA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAgccgaatatctaAGATCGAGACCCGACGC chr9:4260343-Alternative-T;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative T acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CACAGATATCGG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcacagatatcggAGATCGAGACCCGACGC chr9:4260343-Alternative-T;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Variant A acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc GCGATATTCGCG CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAgcgatattcgcgAGATCGAGACCCGACGC chr9:4260343-Variant-A;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Alternative T acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CTCTTAGTCAGA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcTatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAActcttagtcagaAGATCGAGACCCGACGC chr9:4260343-Alternative-T;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Variant A acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc CGAGCACTGTCA CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAcgagcactgtcaAGATCGAGACCCGACGC chr9:4260343-Variant-A;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Variant A acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc ACCTTACTGACC CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAaccttactgaccAGATCGAGACCCGACGC chr9:4260343-Variant-A;Patient-27 chr9:4260343-GA DeNovo Patient-27 intronic GLIS3 0.000192 4.95e-05 -0.08 1.6 0.15 GLIS3 39691 Variant A acagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc ATAGTAACCGTC CGACGCGGTCTCTCTCTacagtggctcacacctgtaatcccagcactttgggaggccgaggtgggtcAatcacgaggtcaggagttcaagaccagcctggccaacatggtgaaacccAGAGGGAGACGGACGTCTCAATAAatagtaaccgtcAGATCGAGACCCGACGC chr9:4260343-Variant-A;Patient-27 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative G ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt GGAGGTTCAATA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAggaggttcaataAGATCGAGACCCGACGC chr9:4357129-Alternative-G;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative G ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CAGATAAGCCGA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcagataagccgaAGATCGAGACCCGACGC chr9:4357129-Alternative-G;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Variant A ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt ACGCTCGTAACC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAacgctcgtaaccAGATCGAGACCCGACGC chr9:4357129-Variant-A;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Reference T ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CTTAGCCATCAT CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAActtagccatcatAGATCGAGACCCGACGC chr9:4357129-Reference-T;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Reference T ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt GGTGATTACAAG CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAggtgattacaagAGATCGAGACCCGACGC chr9:4357129-Reference-T;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative G ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt AATGACTCGTAC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAaatgactcgtacAGATCGAGACCCGACGC chr9:4357129-Alternative-G;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Reference T ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CAGGTCGAATAA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcaggtcgaataaAGATCGAGACCCGACGC chr9:4357129-Reference-T;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Variant A ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt GTAATTACGTGC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAgtaattacgtgcAGATCGAGACCCGACGC chr9:4357129-Variant-A;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative C ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CGTAATTCTCGT CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcgtaattctcgtAGATCGAGACCCGACGC chr9:4357129-Alternative-C;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative C ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CACGATACCATT CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcacgataccattAGATCGAGACCCGACGC chr9:4357129-Alternative-C;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Variant A ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CGCGACTAATCG CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcgcgactaatcgAGATCGAGACCCGACGC chr9:4357129-Variant-A;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Variant A ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt ACGCTTGTCTTA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAacgcttgtcttaAGATCGAGACCCGACGC chr9:4357129-Variant-A;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative C ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt ACGACACCAAGG CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAacgacaccaaggAGATCGAGACCCGACGC chr9:4357129-Alternative-C;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Variant A ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt AACGACATGTTC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaAttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAaacgacatgttcAGATCGAGACCCGACGC chr9:4357129-Variant-A;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative C ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CGATCTCGTCCA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcgatctcgtccaAGATCGAGACCCGACGC chr9:4357129-Alternative-C;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative G ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt GTGAATCACGTT CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAgtgaatcacgttAGATCGAGACCCGACGC chr9:4357129-Alternative-G;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative G ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt ATTAAGGCGTGA CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaGttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAattaaggcgtgaAGATCGAGACCCGACGC chr9:4357129-Alternative-G;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Alternative C ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt ACAAGACATCAG CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaCttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAacaagacatcagAGATCGAGACCCGACGC chr9:4357129-Alternative-C;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Reference T ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CGAATTCGACGC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcgaattcgacgcAGATCGAGACCCGACGC chr9:4357129-Reference-T;Patient-34 chr9:4357129-TA DeNovo Patient-34 intergenic NA 0.000512821 0.25 6.51 0.51 GLIS3 57093 Reference T ttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaactt CGAATATAACGC CGACGCGGTCTCTCTCTttctattttagtttcaagttgcatttaaaaatgagtggaatttgttcttaTttaaaatctttggggaataaccctgtgatctttaattttgtatcaacttAGAGGGAGACGGACGTCTCAATAAcgaatataacgcAGATCGAGACCCGACGC chr9:4357129-Reference-T;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Reference G aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GTACACTCGTGG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAgtacactcgtggAGATCGAGACCCGACGC chr9:4369894-Reference-G;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Reference G aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GTCGCGTTGTGT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAgtcgcgttgtgtAGATCGAGACCCGACGC chr9:4369894-Reference-G;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Reference G aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CGCTCAACGTAC CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAcgctcaacgtacAGATCGAGACCCGACGC chr9:4369894-Reference-G;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative A aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag AGCTTCGATCGG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAagcttcgatcggAGATCGAGACCCGACGC chr9:4369894-Alternative-A;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative C aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GCGGTTACGACT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAgcggttacgactAGATCGAGACCCGACGC chr9:4369894-Alternative-C;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative A aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GGAACGTGCGAT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAggaacgtgcgatAGATCGAGACCCGACGC chr9:4369894-Alternative-A;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative C aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag ACGTCTATACAG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAacgtctatacagAGATCGAGACCCGACGC chr9:4369894-Alternative-C;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Reference G aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag AGTCGTTCGACC CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAagtcgttcgaccAGATCGAGACCCGACGC chr9:4369894-Reference-G;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative C aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GTAGTAGGTCTT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAgtagtaggtcttAGATCGAGACCCGACGC chr9:4369894-Alternative-C;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Variant T aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag AACACCGAACAG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAaacaccgaacagAGATCGAGACCCGACGC chr9:4369894-Variant-T;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative A aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CGCGTATACAGG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAcgcgtatacaggAGATCGAGACCCGACGC chr9:4369894-Alternative-A;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative A aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag AAGATGCAACGT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAaagatgcaacgtAGATCGAGACCCGACGC chr9:4369894-Alternative-A;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative C aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag ACTTGGATGACT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAacttggatgactAGATCGAGACCCGACGC chr9:4369894-Alternative-C;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative C aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CGGATAAGTTCT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagCaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAcggataagttctAGATCGAGACCCGACGC chr9:4369894-Alternative-C;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Reference G aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GGCTTGTTGCGT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagGaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAggcttgttgcgtAGATCGAGACCCGACGC chr9:4369894-Reference-G;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Variant T aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GGTGAACGGAGA CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAggtgaacggagaAGATCGAGACCCGACGC chr9:4369894-Variant-T;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Variant T aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CTGTTCGCATAT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAActgttcgcatatAGATCGAGACCCGACGC chr9:4369894-Variant-T;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Alternative A aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CGTGCTGTAACC CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagAaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAcgtgctgtaaccAGATCGAGACCCGACGC chr9:4369894-Alternative-A;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Variant T aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag CATCTAAGGCGG CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAcatctaaggcggAGATCGAGACCCGACGC chr9:4369894-Variant-T;Patient-34 chr9:4369894-GT DeNovo Patient-34 intergenic NA 0.000513 -0.34 0.27 -0.58 GLIS3 69858 Variant T aaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccag GCCGATGTCGTT CGACGCGGTCTCTCTCTaaaaggaagcatgcaattgcaggacgtggtgaatggagagatagcaaaagTaattcaagagaatcaggcttggcaaggtggctcatgcccataatcccagAGAGGGAGACGGACGTCTCAATAAgccgatgtcgttAGATCGAGACCCGACGC chr9:4369894-Variant-T;Patient-34 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative G tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CGGAAGCCAAGT CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAcggaagccaagtAGATCGAGACCCGACGC chr9:4722924-Alternative-G;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative G tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga GACGTCTACGCA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAgacgtctacgcaAGATCGAGACCCGACGC chr9:4722924-Alternative-G;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative G tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CTTATTGGATGG CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAActtattggatggAGATCGAGACCCGACGC chr9:4722924-Alternative-G;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative G tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga ACCACGCTGTGA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAaccacgctgtgaAGATCGAGACCCGACGC chr9:4722924-Alternative-G;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative A tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CGTCGTAATCGG CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAcgtcgtaatcggAGATCGAGACCCGACGC chr9:4722924-Alternative-A;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Reference C tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga AAGGCTAGTACT CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAaaggctagtactAGATCGAGACCCGACGC chr9:4722924-Reference-C;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Reference C tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CTCGTTAACCTA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAActcgttaacctaAGATCGAGACCCGACGC chr9:4722924-Reference-C;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative G tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga ATCGAAGGCCAT CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggGgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAatcgaaggccatAGATCGAGACCCGACGC chr9:4722924-Alternative-G;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Variant T tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga ACTCGTGCCGAT CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAactcgtgccgatAGATCGAGACCCGACGC chr9:4722924-Variant-T;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative A tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga ACGATGTTACGC CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAacgatgttacgcAGATCGAGACCCGACGC chr9:4722924-Alternative-A;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative A tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga GGACACCTTCCA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAggacaccttccaAGATCGAGACCCGACGC chr9:4722924-Alternative-A;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Variant T tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga AGTCGTCCGTCT CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAagtcgtccgtctAGATCGAGACCCGACGC chr9:4722924-Variant-T;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Variant T tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CGACTACGCTTC CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAcgactacgcttcAGATCGAGACCCGACGC chr9:4722924-Variant-T;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Reference C tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CTATATAGGCCA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAActatataggccaAGATCGAGACCCGACGC chr9:4722924-Reference-C;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Reference C tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CGTGCGTCAGAA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAcgtgcgtcagaaAGATCGAGACCCGACGC chr9:4722924-Reference-C;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Variant T tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga AGTAGTCCATAC CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAagtagtccatacAGATCGAGACCCGACGC chr9:4722924-Variant-T;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Reference C tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga GTAGATCCGTCG CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggCgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAgtagatccgtcgAGATCGAGACCCGACGC chr9:4722924-Reference-C;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative A tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CTGAACGCTGCA CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAActgaacgctgcaAGATCGAGACCCGACGC chr9:4722924-Alternative-A;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Alternative A tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga GTATTACTGGAC CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggAgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAgtattactggacAGATCGAGACCCGACGC chr9:4722924-Alternative-A;Patient-32 chr9:4722924-CT DeNovo Patient-32 intronic AK3 0.000128 4.95e-05 -0.24 0.55 -0.67 AK3 19118 Variant T tggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtggga CGACTTACAAGG CGACGCGGTCTCTCTCTtggtgaaacccagtctctacagaaataaaaaaattagccggacatgatggTgggtgcctgtaatcccagctacttgggggtagcttgaacccaggtgggaAGAGGGAGACGGACGTCTCAATAAcgacttacaaggAGATCGAGACCCGACGC chr9:4722924-Variant-T;Patient-32 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Reference C acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttgg CGATGCGCAACA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAcgatgcgcaacaAGATCGAGACCCGACGC chr9:4766850-Reference-C;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Reference C acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttgg GCGCGCATAAGT CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAgcgcgcataagtAGATCGAGACCCGACGC chr9:4766850-Reference-C;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Reference C acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttgg AAGACGGTGTGC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAaagacggtgtgcAGATCGAGACCCGACGC chr9:4766850-Reference-C;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Reference C acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttgg AACCGCTGCAAG CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAaaccgctgcaagAGATCGAGACCCGACGC chr9:4766850-Reference-C;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Reference C acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttgg AGCTTGAGGTTA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaCggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAagcttgaggttaAGATCGAGACCCGACGC chr9:4766850-Reference-C;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative A acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttgg GATAATAGCACG CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAgataatagcacgAGATCGAGACCCGACGC chr9:4766850-Alternative-A;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative A acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttgg AGTCGACTCTAA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAagtcgactctaaAGATCGAGACCCGACGC chr9:4766850-Alternative-A;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Variant T acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttgg AACGCTCGATGC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAaacgctcgatgcAGATCGAGACCCGACGC chr9:4766850-Variant-T;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative A acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttgg GGAATATGCGAA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAggaatatgcgaaAGATCGAGACCCGACGC chr9:4766850-Alternative-A;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Variant T acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttgg CGTCAGTTCGCT CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAcgtcagttcgctAGATCGAGACCCGACGC chr9:4766850-Variant-T;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative G acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttgg CTATGCCGAACC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAActatgccgaaccAGATCGAGACCCGACGC chr9:4766850-Alternative-G;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Variant T acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttgg ACAGCGTAGCCA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAacagcgtagccaAGATCGAGACCCGACGC chr9:4766850-Variant-T;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Variant T acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttgg AGTTAATGCGTC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAagttaatgcgtcAGATCGAGACCCGACGC chr9:4766850-Variant-T;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative G acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttgg ACAAGTCTACGC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAacaagtctacgcAGATCGAGACCCGACGC chr9:4766850-Alternative-G;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative G acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttgg GCGGTTAGCCTA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAgcggttagcctaAGATCGAGACCCGACGC chr9:4766850-Alternative-G;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative A acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttgg GCGACTCTCTGA CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAgcgactctctgaAGATCGAGACCCGACGC chr9:4766850-Alternative-A;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative G acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttgg AATAGTCTGTGG CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAaatagtctgtggAGATCGAGACCCGACGC chr9:4766850-Alternative-G;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Variant T acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttgg GCATACCGTACC CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaTggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAgcataccgtaccAGATCGAGACCCGACGC chr9:4766850-Variant-T;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative G acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttgg CGGCTTAAGTCG CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaGggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAcggcttaagtcgAGATCGAGACCCGACGC chr9:4766850-Alternative-G;Patient-75 chr9:4766850-CT DeNovo Patient-75 intergenic 6.4e-05 0.000513 -0.15 1 -0.1 RCL1 25983 Alternative A acaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttgg GGCGCAGATCAT CGACGCGGTCTCTCTCTacaaatggcttgtgttagaaagagagtaaccatgtaatttatcttgcaaaAggatgcacttttgataatgagagagagcactattaataattacatttggAGAGGGAGACGGACGTCTCAATAAggcgcagatcatAGATCGAGACCCGACGC chr9:4766850-Alternative-A;Patient-75 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative C acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag ACAGACTCGCTA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAacagactcgctaAGATCGAGACCCGACGC chr9:5044879-Alternative-C;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative C acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GAAGTGAACGGC CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgaagtgaacggcAGATCGAGACCCGACGC chr9:5044879-Alternative-C;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative C acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag CTCTAACATCGT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAActctaacatcgtAGATCGAGACCCGACGC chr9:5044879-Alternative-C;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative C acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag AGATTAGGCCTT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAagattaggccttAGATCGAGACCCGACGC chr9:5044879-Alternative-C;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Variant A acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GACCTAAGCAGA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgacctaagcagaAGATCGAGACCCGACGC chr9:5044879-Variant-A;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative C acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GTACCTGCGTGA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaCttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgtacctgcgtgaAGATCGAGACCCGACGC chr9:5044879-Alternative-C;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Variant A acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag AATCACGGTCGG CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAaatcacggtcggAGATCGAGACCCGACGC chr9:5044879-Variant-A;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Variant A acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GGTCATGGTAGG CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAggtcatggtaggAGATCGAGACCCGACGC chr9:5044879-Variant-A;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Variant A acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag AGAATGCGTGAT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAagaatgcgtgatAGATCGAGACCCGACGC chr9:5044879-Variant-A;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Variant A acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GCGCAATCATCG CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaAttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgcgcaatcatcgAGATCGAGACCCGACGC chr9:5044879-Variant-A;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Reference T acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GTGTAACGCTTA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgtgtaacgcttaAGATCGAGACCCGACGC chr9:5044879-Reference-T;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative G acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag CGTCTAGGTCCT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAcgtctaggtcctAGATCGAGACCCGACGC chr9:5044879-Alternative-G;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative G acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag CTCGCCTTACAC CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAActcgccttacacAGATCGAGACCCGACGC chr9:5044879-Alternative-G;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative G acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag CTAGCCTTGAAT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAActagccttgaatAGATCGAGACCCGACGC chr9:5044879-Alternative-G;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative G acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GCACCTATCGTC CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgcacctatcgtcAGATCGAGACCCGACGC chr9:5044879-Alternative-G;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Reference T acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GCGATAGGCGAA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgcgataggcgaaAGATCGAGACCCGACGC chr9:5044879-Reference-T;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Alternative G acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GACCTCGTCAAG CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaGttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgacctcgtcaagAGATCGAGACCCGACGC chr9:5044879-Alternative-G;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Reference T acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag ATCTGCGTACAT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAatctgcgtacatAGATCGAGACCCGACGC chr9:5044879-Reference-T;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Reference T acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag ACGATTGGATGA CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAacgattggatgaAGATCGAGACCCGACGC chr9:5044879-Reference-T;Patient-20 chr9:5044879-TA DeNovo Patient-20 intronic JAK2 0.000191 4.95e-05 0.71 11.18 4.28 JAK2 59633 Reference T acatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaag GCGTTGAACCGT CGACGCGGTCTCTCTCTacatacgtggctaaaatattagtaacatttctttatggtttttaaaaaaaTttttggacaatttcaggcttacacaatggacaatgaactgtagagaaagAGAGGGAGACGGACGTCTCAATAAgcgttgaaccgtAGATCGAGACCCGACGC chr9:5044879-Reference-T;Patient-20 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Variant T tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc ATCCTCGTAGTT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAatcctcgtagttAGATCGAGACCCGACGC chr9:5046124-Variant-T;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Variant T tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CGCGGTAGACTA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcgcggtagactaAGATCGAGACCCGACGC chr9:5046124-Variant-T;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative G tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc AAGTCTCGTGAT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAaagtctcgtgatAGATCGAGACCCGACGC chr9:5046124-Alternative-G;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Variant T tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GATTCTGGTTCT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAgattctggttctAGATCGAGACCCGACGC chr9:5046124-Variant-T;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative G tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CGCATGCGTACA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcgcatgcgtacaAGATCGAGACCCGACGC chr9:5046124-Alternative-G;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Variant T tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc ACTTGTACGTTC CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAacttgtacgttcAGATCGAGACCCGACGC chr9:5046124-Variant-T;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative G tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc ATAATGTGCGTC CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAataatgtgcgtcAGATCGAGACCCGACGC chr9:5046124-Alternative-G;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Reference A tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CGACCGTGACTA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcgaccgtgactaAGATCGAGACCCGACGC chr9:5046124-Reference-A;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative C tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc ACGAGCTCTTAA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAacgagctcttaaAGATCGAGACCCGACGC chr9:5046124-Alternative-C;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Reference A tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CGATATCTGTTC CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcgatatctgttcAGATCGAGACCCGACGC chr9:5046124-Reference-A;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative G tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GCCGGCTAATCA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAgccggctaatcaAGATCGAGACCCGACGC chr9:5046124-Alternative-G;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Variant T tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GGAAGTTCGACG CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaTccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAggaagttcgacgAGATCGAGACCCGACGC chr9:5046124-Variant-T;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Reference A tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GATCACGCGTGA CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAgatcacgcgtgaAGATCGAGACCCGACGC chr9:5046124-Reference-A;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Reference A tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc AGTAGTCAGTAC CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAagtagtcagtacAGATCGAGACCCGACGC chr9:5046124-Reference-A;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative C tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GGAACGCGTAAC CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAggaacgcgtaacAGATCGAGACCCGACGC chr9:5046124-Alternative-C;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative G tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc ATTGTAGGCGCG CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaGccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAattgtaggcgcgAGATCGAGACCCGACGC chr9:5046124-Alternative-G;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative C tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc AGCAGGTGATAT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAagcaggtgatatAGATCGAGACCCGACGC chr9:5046124-Alternative-C;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Reference A tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CGTAAGCATAAG CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaAccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcgtaagcataagAGATCGAGACCCGACGC chr9:5046124-Reference-A;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative C tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc GTGGCGTCGAAT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAgtggcgtcgaatAGATCGAGACCCGACGC chr9:5046124-Alternative-C;Patient-3 chr9:5046124-AT DeNovo Patient-3 intronic JAK2 NA 4.95e-05 0.22 6.12 -0.47 JAK2 60878 Alternative C tatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatc CAAGCCGGTTCT CGACGCGGTCTCTCTCTtatgggtttgaggtggtatcattgtgattttgatgcatacttctctaacaCccagtgatcatgagcatcttttcatatgcttgttggccatctgtttatcAGAGGGAGACGGACGTCTCAATAAcaagccggttctAGATCGAGACCCGACGC chr9:5046124-Alternative-C;Patient-3 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative G acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg GTTCCACGTGCT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAgttccacgtgctAGATCGAGACCCGACGC chr9:5297504-Alternative-G;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative A acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg ACATCAGTGTAC CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAacatcagtgtacAGATCGAGACCCGACGC chr9:5297504-Alternative-A;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative G acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg GAGTAACTACGC CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAgagtaactacgcAGATCGAGACCCGACGC chr9:5297504-Alternative-G;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Reference T acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg ACTAGACACCAT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAactagacaccatAGATCGAGACCCGACGC chr9:5297504-Reference-T;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Reference T acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg GCATGTACGTAA CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAgcatgtacgtaaAGATCGAGACCCGACGC chr9:5297504-Reference-T;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative G acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CTCACGCCACAT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAActcacgccacatAGATCGAGACCCGACGC chr9:5297504-Alternative-G;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative A acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg AGTAGTCGACGG CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAagtagtcgacggAGATCGAGACCCGACGC chr9:5297504-Alternative-A;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Reference T acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CGTCTACACCAC CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAcgtctacaccacAGATCGAGACCCGACGC chr9:5297504-Reference-T;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Reference T acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CATCCAACACCT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAcatccaacacctAGATCGAGACCCGACGC chr9:5297504-Reference-T;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Variant C acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CTATAAGGCTGT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAActataaggctgtAGATCGAGACCCGACGC chr9:5297504-Variant-C;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Variant C acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CTTGACAGCAAG CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAActtgacagcaagAGATCGAGACCCGACGC chr9:5297504-Variant-C;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative A acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CTGTTAGCTGTT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAActgttagctgttAGATCGAGACCCGACGC chr9:5297504-Alternative-A;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Variant C acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg GACCTAACGTGG CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAgacctaacgtggAGATCGAGACCCGACGC chr9:5297504-Variant-C;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative A acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg GGTCGAGTTACG CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAggtcgagttacgAGATCGAGACCCGACGC chr9:5297504-Alternative-A;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Reference T acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CGAGTATCAACC CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcTcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAcgagtatcaaccAGATCGAGACCCGACGC chr9:5297504-Reference-T;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative G acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CAGATCGGCGTT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAcagatcggcgttAGATCGAGACCCGACGC chr9:5297504-Alternative-G;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Variant C acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg ATCGTCAGTTCT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAatcgtcagttctAGATCGAGACCCGACGC chr9:5297504-Variant-C;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative G acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg AGAACGTTCTGG CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcGcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAagaacgttctggAGATCGAGACCCGACGC chr9:5297504-Alternative-G;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Alternative A acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg AGACGAGCTGAC CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcAcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAagacgagctgacAGATCGAGACCCGACGC chr9:5297504-Alternative-A;Patient-85 chr9:5297504-TC DeNovo Patient-85 intergenic NA 0.000513 -0.14 1.07 0 RLN2 7106 Variant C acttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcg CACGATTCACTT CGACGCGGTCTCTCTCTacttacaagggaggtgaagtacctgttcaaagagaactacaaaccactgcCcaaggatataagagaggatacaaacaaatggaaaagcattccatgctcgAGAGGGAGACGGACGTCTCAATAAcacgattcacttAGATCGAGACCCGACGC chr9:5297504-Variant-C;Patient-85 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative C cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga GAGATCGGTGCA CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAgagatcggtgcaAGATCGAGACCCGACGC chr9:5319393-Alternative-C;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative C cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CTCATCGGCATC CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAActcatcggcatcAGATCGAGACCCGACGC chr9:5319393-Alternative-C;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative C cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CTCTGCGATCGA CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAActctgcgatcgaAGATCGAGACCCGACGC chr9:5319393-Alternative-C;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative C cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ATCTGGCCGACT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAatctggccgactAGATCGAGACCCGACGC chr9:5319393-Alternative-C;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative C cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ACGCCTTAACGC CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacCagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAacgccttaacgcAGATCGAGACCCGACGC chr9:5319393-Alternative-C;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Variant A cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga AGTTCATCACGA CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAagttcatcacgaAGATCGAGACCCGACGC chr9:5319393-Variant-A;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative T cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ACTCAATGAGCG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAactcaatgagcgAGATCGAGACCCGACGC chr9:5319393-Alternative-T;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Variant A cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga GAGATAATGCAC CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAgagataatgcacAGATCGAGACCCGACGC chr9:5319393-Variant-A;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Variant A cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga GCCAGAATCGAG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAgccagaatcgagAGATCGAGACCCGACGC chr9:5319393-Variant-A;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Reference G cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga GTTACTGGATGT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAgttactggatgtAGATCGAGACCCGACGC chr9:5319393-Reference-G;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Reference G cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CATCTAACGTGT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAcatctaacgtgtAGATCGAGACCCGACGC chr9:5319393-Reference-G;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Reference G cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga AGATCCGTATGT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAagatccgtatgtAGATCGAGACCCGACGC chr9:5319393-Reference-G;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Variant A cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ACCGAGGATCGT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAaccgaggatcgtAGATCGAGACCCGACGC chr9:5319393-Variant-A;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Variant A cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ACCGATAACAAG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacAagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAaccgataacaagAGATCGAGACCCGACGC chr9:5319393-Variant-A;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Reference G cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CGACGTGACGTT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAcgacgtgacgttAGATCGAGACCCGACGC chr9:5319393-Reference-G;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative T cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga AAGATTCTGGAG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAaagattctggagAGATCGAGACCCGACGC chr9:5319393-Alternative-T;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative T cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga GTTGATCCGTGG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAgttgatccgtggAGATCGAGACCCGACGC chr9:5319393-Alternative-T;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Reference G cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga ACACGCTTGTGG CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacGagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAacacgcttgtggAGATCGAGACCCGACGC chr9:5319393-Reference-G;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative T cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CTTATTCCGAGT CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAActtattccgagtAGATCGAGACCCGACGC chr9:5319393-Alternative-T;Patient-78 chr9:5319393-GA DeNovo Patient-78 intergenic NA 0.000513 -0.15 0.97 0.16 RLN1 20479 Alternative T cattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatga CGTTGCGAAGCA CGACGCGGTCTCTCTCTcattgagaaaagaacaagacgaatggctcaggtgcagggaaatgaagaacTagggagaaaacatgaactgaatggaacgtcccatgaggattttttatgaAGAGGGAGACGGACGTCTCAATAAcgttgcgaagcaAGATCGAGACCCGACGC chr9:5319393-Alternative-T;Patient-78 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative G ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga ATCACGAGCGAT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAatcacgagcgatAGATCGAGACCCGACGC chr9:5868942-Alternative-G;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative G ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GGAACTACGGAT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAggaactacggatAGATCGAGACCCGACGC chr9:5868942-Alternative-G;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative G ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga ATCTTGTGGTTC CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAatcttgtggttcAGATCGAGACCCGACGC chr9:5868942-Alternative-G;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative G ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga AAGATAACGTCG CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAaagataacgtcgAGATCGAGACCCGACGC chr9:5868942-Alternative-G;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Reference T ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CTCGTGATAAGG CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAActcgtgataaggAGATCGAGACCCGACGC chr9:5868942-Reference-T;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative G ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga ATACGGTGTCTA CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccGgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAatacggtgtctaAGATCGAGACCCGACGC chr9:5868942-Alternative-G;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Reference T ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CGTTATTGACCT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAcgttattgacctAGATCGAGACCCGACGC chr9:5868942-Reference-T;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Reference T ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CATGCTATGAGT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAcatgctatgagtAGATCGAGACCCGACGC chr9:5868942-Reference-T;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Reference T ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga AGGAACGTCGGT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAaggaacgtcggtAGATCGAGACCCGACGC chr9:5868942-Reference-T;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative A ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga ACAAGCATCGAA CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAacaagcatcgaaAGATCGAGACCCGACGC chr9:5868942-Alternative-A;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Reference T ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GTCGTAATCGAT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccTgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAgtcgtaatcgatAGATCGAGACCCGACGC chr9:5868942-Reference-T;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative A ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GCACGAGCAAGA CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAgcacgagcaagaAGATCGAGACCCGACGC chr9:5868942-Alternative-A;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Variant C ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CGTTAGGCGGAT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAcgttaggcggatAGATCGAGACCCGACGC chr9:5868942-Variant-C;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Variant C ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GCGCATACTGGT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAgcgcatactggtAGATCGAGACCCGACGC chr9:5868942-Variant-C;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative A ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GATTGTAACGGT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAgattgtaacggtAGATCGAGACCCGACGC chr9:5868942-Alternative-A;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Variant C ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GGATAGCCTTCG CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAggatagccttcgAGATCGAGACCCGACGC chr9:5868942-Variant-C;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Variant C ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GACGTATAGCTA CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAgacgtatagctaAGATCGAGACCCGACGC chr9:5868942-Variant-C;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Variant C ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CGTCCATACTAT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccCgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAcgtccatactatAGATCGAGACCCGACGC chr9:5868942-Variant-C;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative A ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga CGCAGATAAGCA CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAcgcagataagcaAGATCGAGACCCGACGC chr9:5868942-Alternative-A;Patient-82 chr9:5868942-TC DeNovo Patient-82 intergenic 3.2e-05 0.00103 -0.15 1.02 -0.77 MLANA 21966 Alternative A ttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttga GGATGCGCATGT CGACGCGGTCTCTCTCTttcactgccttgacctcctgggcttcagcaatcctcccacctcagcctccAgagtagcagagataacaggtgtgtgccatcatgcttagctaatttttgaAGAGGGAGACGGACGTCTCAATAAggatgcgcatgtAGATCGAGACCCGACGC chr9:5868942-Alternative-A;Patient-82 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Variant T actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt AGTTAGGTCGAA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAagttaggtcgaaAGATCGAGACCCGACGC chr9:6562568-Variant-T;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Variant T actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CGAGTCTGAACG CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcgagtctgaacgAGATCGAGACCCGACGC chr9:6562568-Variant-T;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Variant T actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt GTGGCGTTGGAT CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAgtggcgttggatAGATCGAGACCCGACGC chr9:6562568-Variant-T;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Reference A actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CAACCGATACAG CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcaaccgatacagAGATCGAGACCCGACGC chr9:6562568-Reference-A;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Variant T actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt ACCGTCTAGTAA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAaccgtctagtaaAGATCGAGACCCGACGC chr9:6562568-Variant-T;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Reference A actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CAGGAGCGCATA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcaggagcgcataAGATCGAGACCCGACGC chr9:6562568-Reference-A;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Variant T actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt ATCGGTGTTCAT CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaTtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAatcggtgttcatAGATCGAGACCCGACGC chr9:6562568-Variant-T;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative G actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CTCAATCTGCGC CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAActcaatctgcgcAGATCGAGACCCGACGC chr9:6562568-Alternative-G;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative G actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CACGCAAGAGCA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcacgcaagagcaAGATCGAGACCCGACGC chr9:6562568-Alternative-G;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative C actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CGTAAGTCGCCT CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcgtaagtcgcctAGATCGAGACCCGACGC chr9:6562568-Alternative-C;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Reference A actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CAAGGTCTTCAA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcaaggtcttcaaAGATCGAGACCCGACGC chr9:6562568-Reference-A;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Reference A actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt GCATGTGGTTCG CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAgcatgtggttcgAGATCGAGACCCGACGC chr9:6562568-Reference-A;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative G actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt GGTTGTGCTGCA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAggttgtgctgcaAGATCGAGACCCGACGC chr9:6562568-Alternative-G;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative G actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt GATCGTCGGACA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAgatcgtcggacaAGATCGAGACCCGACGC chr9:6562568-Alternative-G;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative C actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CAACTCGGATGC CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAcaactcggatgcAGATCGAGACCCGACGC chr9:6562568-Alternative-C;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative C actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt AACAGAGGTGCG CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAaacagaggtgcgAGATCGAGACCCGACGC chr9:6562568-Alternative-C;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative G actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CTATATAGGTCG CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaGtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAActatataggtcgAGATCGAGACCCGACGC chr9:6562568-Alternative-G;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative C actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt CTACGGTCATTA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAActacggtcattaAGATCGAGACCCGACGC chr9:6562568-Alternative-C;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Reference A actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt ACTCTGCGGTAC CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaAtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAactctgcggtacAGATCGAGACCCGACGC chr9:6562568-Reference-A;Patient-72 chr9:6562568-AT DeNovo Patient-72 intronic GLDC 0.000929 0.00021 -0.26 0.47 -1.05 GLDC 83123 Alternative C actaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagt GTCGTTCGGACA CGACGCGGTCTCTCTCTactaaatcattttcttctctaactaagaaagttggctttaattaaaaaaaCtttttttttgagagggagtcttgctctgttgcccaggctggagtgcagtAGAGGGAGACGGACGTCTCAATAAgtcgttcggacaAGATCGAGACCCGACGC chr9:6562568-Alternative-C;Patient-72 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Variant G gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct ACGTGGTATAAG CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAacgtggtataagAGATCGAGACCCGACGC chr9:6742049-Variant-G;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Variant G gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct CGAGCGATAGGT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAcgagcgataggtAGATCGAGACCCGACGC chr9:6742049-Variant-G;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Variant G gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct GGAACGCGCTAA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAggaacgcgctaaAGATCGAGACCCGACGC chr9:6742049-Variant-G;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Variant G gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AATGGCGAAGAA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAaatggcgaagaaAGATCGAGACCCGACGC chr9:6742049-Variant-G;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Variant G gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AACGACTACGCG CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacGgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAaacgactacgcgAGATCGAGACCCGACGC chr9:6742049-Variant-G;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Reference T gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AATCACGTGCGC CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAaatcacgtgcgcAGATCGAGACCCGACGC chr9:6742049-Reference-T;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Reference T gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AGCATCAACGCG CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAagcatcaacgcgAGATCGAGACCCGACGC chr9:6742049-Reference-T;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Reference T gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct ACATATTGGCGT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAacatattggcgtAGATCGAGACCCGACGC chr9:6742049-Reference-T;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Reference T gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AACTCCGCAACT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAaactccgcaactAGATCGAGACCCGACGC chr9:6742049-Reference-T;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative A gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct CATGCGACTCGA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAcatgcgactcgaAGATCGAGACCCGACGC chr9:6742049-Alternative-A;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative A gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct ATCGGAGTGTAA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAatcggagtgtaaAGATCGAGACCCGACGC chr9:6742049-Alternative-A;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative C gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct GCATACTCTCTT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAgcatactctcttAGATCGAGACCCGACGC chr9:6742049-Alternative-C;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative A gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct AATCGCACCAAC CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAaatcgcaccaacAGATCGAGACCCGACGC chr9:6742049-Alternative-A;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative A gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct CTCTCGCACTAA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAActctcgcactaaAGATCGAGACCCGACGC chr9:6742049-Alternative-A;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative C gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct ATAACGCGGTTA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAataacgcggttaAGATCGAGACCCGACGC chr9:6742049-Alternative-C;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative A gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct CACTGAATCCGC CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacAgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAcactgaatccgcAGATCGAGACCCGACGC chr9:6742049-Alternative-A;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Reference T gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct CAGTCTTGATGA CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacTgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAcagtcttgatgaAGATCGAGACCCGACGC chr9:6742049-Reference-T;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative C gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct GGTATGAGTGAT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAggtatgagtgatAGATCGAGACCCGACGC chr9:6742049-Alternative-C;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative C gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct GAATCTCGCGGT CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAgaatctcgcggtAGATCGAGACCCGACGC chr9:6742049-Alternative-C;Patient-82 chr9:6742049-TG DeNovo Patient-82 intronic KDM4C NA 4.95e-05 -0.05 1.96 0.11 KDM4C 21185 Alternative C gtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccct ACATCCATTAGG CGACGCGGTCTCTCTCTgtcttgctctgtcacccaggctgaagtgcagtggagtgatctcggctcacCgcaacctccacctcccgggttcaagcgattttcctgcctcagcctccctAGAGGGAGACGGACGTCTCAATAAacatccattaggAGATCGAGACCCGACGC chr9:6742049-Alternative-C;Patient-82 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Reference C ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GTTCAACGACCG CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAgttcaacgaccgAGATCGAGACCCGACGC chr9:75076792-Reference-C;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative G ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GGTCGTCTATAA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAggtcgtctataaAGATCGAGACCCGACGC chr9:75076792-Alternative-G;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Reference C ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagactt AGACGACATAAC CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAagacgacataacAGATCGAGACCCGACGC chr9:75076792-Reference-C;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative T ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ACGGTAGCACGA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAacggtagcacgaAGATCGAGACCCGACGC chr9:75076792-Alternative-T;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative T ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CATTGTGGACAT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAcattgtggacatAGATCGAGACCCGACGC chr9:75076792-Alternative-T;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative G ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GTTCCATTCCAA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAgttccattccaaAGATCGAGACCCGACGC chr9:75076792-Alternative-G;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Reference C ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ATTCTTGACGTC CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAattcttgacgtcAGATCGAGACCCGACGC chr9:75076792-Reference-C;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative T ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ACTCTACAGACG CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAactctacagacgAGATCGAGACCCGACGC chr9:75076792-Alternative-T;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Variant A ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GTCGGAGTACGA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAgtcggagtacgaAGATCGAGACCCGACGC chr9:75076792-Variant-A;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Reference C ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CGACTTCGAACT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAcgacttcgaactAGATCGAGACCCGACGC chr9:75076792-Reference-C;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative T ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GATACTCAAGCT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAgatactcaagctAGATCGAGACCCGACGC chr9:75076792-Alternative-T;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Variant A ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagactt GTACAGAGCGGT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAgtacagagcggtAGATCGAGACCCGACGC chr9:75076792-Variant-A;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative G ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CGCGTACTGCAT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAcgcgtactgcatAGATCGAGACCCGACGC chr9:75076792-Alternative-G;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative G ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CACGAGATCCGT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAcacgagatccgtAGATCGAGACCCGACGC chr9:75076792-Alternative-G;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Reference C ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ATTGGCGTGACT CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaCaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAattggcgtgactAGATCGAGACCCGACGC chr9:75076792-Reference-C;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Variant A ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CTAGCGAATTCG CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAActagcgaattcgAGATCGAGACCCGACGC chr9:75076792-Variant-A;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative T ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ACAATATCGTGC CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaTaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAacaatatcgtgcAGATCGAGACCCGACGC chr9:75076792-Alternative-T;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Variant A ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ACGACATCGCGA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAacgacatcgcgaAGATCGAGACCCGACGC chr9:75076792-Variant-A;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Alternative G ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagactt ATTGTGACTCGA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaGaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAattgtgactcgaAGATCGAGACCCGACGC chr9:75076792-Alternative-G;Patient-69 chr9:75076792-CA DeNovo Patient-69 intergenic NA 0.000512821 0.13 4.7 1.31 TMC1 59924 Variant A ctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagactt CAACGCTAGTAA CGACGCGGTCTCTCTCTctcctgcccctgtagtatttgacatacatgttatcacctacaaaaacaaaAaagattcatcctgaagtttccagccagaagatattggtcaaggagacttAGAGGGAGACGGACGTCTCAATAAcaacgctagtaaAGATCGAGACCCGACGC chr9:75076792-Variant-A;Patient-69 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative A accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa ATATGTGCCGAT CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAatatgtgccgatAGATCGAGACCCGACGC chr9:75594550-Alternative-A;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Variant C accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa GACGACGAGTAC CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAgacgacgagtacAGATCGAGACCCGACGC chr9:75594550-Variant-C;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative A accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa ATTGCACCACGA CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAattgcaccacgaAGATCGAGACCCGACGC chr9:75594550-Alternative-A;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative A accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa AGGAGATAACGC CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAaggagataacgcAGATCGAGACCCGACGC chr9:75594550-Alternative-A;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Variant C accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa ACGACTAACGAA CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAacgactaacgaaAGATCGAGACCCGACGC chr9:75594550-Variant-C;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Variant C accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CAGCTATCATTC CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAcagctatcattcAGATCGAGACCCGACGC chr9:75594550-Variant-C;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative A accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa AGACGATCAGCG CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAagacgatcagcgAGATCGAGACCCGACGC chr9:75594550-Alternative-A;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Reference T accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa GATACAGTTGAG CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAgatacagttgagAGATCGAGACCCGACGC chr9:75594550-Reference-T;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative A accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa GCCTGAACGACT CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaAgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAgcctgaacgactAGATCGAGACCCGACGC chr9:75594550-Alternative-A;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Variant C accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa GAAGATTCTAGG CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAgaagattctaggAGATCGAGACCCGACGC chr9:75594550-Variant-C;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Variant C accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CAATGCGGAACG CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaCgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAcaatgcggaacgAGATCGAGACCCGACGC chr9:75594550-Variant-C;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Reference T accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa AGTGCTCACGAC CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAagtgctcacgacAGATCGAGACCCGACGC chr9:75594550-Reference-T;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Reference T accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CTCTGCTACTAT CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAActctgctactatAGATCGAGACCCGACGC chr9:75594550-Reference-T;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative G accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa ACATCAACGAGT CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAacatcaacgagtAGATCGAGACCCGACGC chr9:75594550-Alternative-G;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative G accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CGCTTAAGTCAA CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAcgcttaagtcaaAGATCGAGACCCGACGC chr9:75594550-Alternative-G;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative G accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa GATAGTGTACAG CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAgatagtgtacagAGATCGAGACCCGACGC chr9:75594550-Alternative-G;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative G accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa AGCCGCTCGTAA CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAagccgctcgtaaAGATCGAGACCCGACGC chr9:75594550-Alternative-G;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Alternative G accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CGGCGCAAGTAT CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaGgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAcggcgcaagtatAGATCGAGACCCGACGC chr9:75594550-Alternative-G;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Reference T accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa CGCATCAACGCA CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAcgcatcaacgcaAGATCGAGACCCGACGC chr9:75594550-Reference-T;Patient-37 chr9:75594550-TC DeNovo Patient-37 intergenic NA 0.000513 0.13 4.81 1.15 ALDH1A1 26316 Reference T accatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataa AATAGATGCGAC CGACGCGGTCTCTCTCTaccatacataagggccttttgtgttgtaatgaggtgcaaagttatgcaaaTgccatgggaaaagataaaggtgtagattttctttttgtgggttatataaAGAGGGAGACGGACGTCTCAATAAaatagatgcgacAGATCGAGACCCGACGC chr9:75594550-Reference-T;Patient-37 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Reference C ccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga GGAACGGTAAGG CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAggaacggtaaggAGATCGAGACCCGACGC chr9:770109-Reference-C;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Reference C ccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga ATATTCGGTTCG CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAatattcggttcgAGATCGAGACCCGACGC chr9:770109-Reference-C;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Variant A ccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga ACGCGCTAATTA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAacgcgctaattaAGATCGAGACCCGACGC chr9:770109-Variant-A;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Reference C ccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga ACGTTGTTCGAA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAacgttgttcgaaAGATCGAGACCCGACGC chr9:770109-Reference-C;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Reference C ccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AAGTTGTAAGCG CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAaagttgtaagcgAGATCGAGACCCGACGC chr9:770109-Reference-C;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Reference C ccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AACCGGTGATAA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacCtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAaaccggtgataaAGATCGAGACCCGACGC chr9:770109-Reference-C;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Variant A ccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga CGTGAATCGGAC CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAcgtgaatcggacAGATCGAGACCCGACGC chr9:770109-Variant-A;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative G ccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga CGTGAACAATGA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAcgtgaacaatgaAGATCGAGACCCGACGC chr9:770109-Alternative-G;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Variant A ccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AACGCGAATTCT CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAaacgcgaattctAGATCGAGACCCGACGC chr9:770109-Variant-A;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Variant A ccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga ACGACGCAGCAA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAacgacgcagcaaAGATCGAGACCCGACGC chr9:770109-Variant-A;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative G ccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AGGCGTCTACGA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAaggcgtctacgaAGATCGAGACCCGACGC chr9:770109-Alternative-G;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative G ccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga CGTAGCACATTA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAcgtagcacattaAGATCGAGACCCGACGC chr9:770109-Alternative-G;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative G ccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AGATAAGGTCGT CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAagataaggtcgtAGATCGAGACCCGACGC chr9:770109-Alternative-G;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative G ccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga ACGAGTAGCTAT CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacGtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAacgagtagctatAGATCGAGACCCGACGC chr9:770109-Alternative-G;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative T ccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AGTAACGCGCCA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAagtaacgcgccaAGATCGAGACCCGACGC chr9:770109-Alternative-T;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative T ccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga GCACGGAACATC CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAgcacggaacatcAGATCGAGACCCGACGC chr9:770109-Alternative-T;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative T ccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga GAATGCGGCAGT CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAgaatgcggcagtAGATCGAGACCCGACGC chr9:770109-Alternative-T;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative T ccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga AACTAGCCGACG CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAAaactagccgacgAGATCGAGACCCGACGC chr9:770109-Alternative-T;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Alternative T ccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga CTGGTTCAACTT CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacTtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAActggttcaacttAGATCGAGACCCGACGC chr9:770109-Alternative-T;Patient-62 chr9:770109-CA DeNovo Patient-62 intergenic 0.000574 0.000512821 0.21 6.05 0.05 DMRT1 71580 Variant A ccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccaga CTTATGAACGCA CGACGCGGTCTCTCTCTccactaatcccacagaaatacaaactactatcagagaatactataaacacAtctacacaaataaactagaaaatctagaagaaatggacaaattcccagaAGAGGGAGACGGACGTCTCAATAActtatgaacgcaAGATCGAGACCCGACGC chr9:770109-Variant-A;Patient-62 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative A ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CGTACTGATTGC CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcgtactgattgcAGATCGAGACCCGACGC chr9:78499910-Alternative-A;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative T ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CTACCGACCAGT CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAActaccgaccagtAGATCGAGACCCGACGC chr9:78499910-Alternative-T;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative A ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag AACTCTCGTAGA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAaactctcgtagaAGATCGAGACCCGACGC chr9:78499910-Alternative-A;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative T ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag GCACGTCGTACT CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAgcacgtcgtactAGATCGAGACCCGACGC chr9:78499910-Alternative-T;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative A ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag AGCTTAATCCGT CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAagcttaatccgtAGATCGAGACCCGACGC chr9:78499910-Alternative-A;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Variant C ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag ACAGCTCTGACG CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAacagctctgacgAGATCGAGACCCGACGC chr9:78499910-Variant-C;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Reference G ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag ACTGGCGTGCTA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAactggcgtgctaAGATCGAGACCCGACGC chr9:78499910-Reference-G;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative A ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CATCATGCAGCA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcatcatgcagcaAGATCGAGACCCGACGC chr9:78499910-Alternative-A;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Reference G ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag GTGCGAGGTAGA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAgtgcgaggtagaAGATCGAGACCCGACGC chr9:78499910-Reference-G;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative A ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CAGCGAGTATAA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggAtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcagcgagtataaAGATCGAGACCCGACGC chr9:78499910-Alternative-A;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Variant C ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag ATTACGCCACCG CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAattacgccaccgAGATCGAGACCCGACGC chr9:78499910-Variant-C;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Variant C ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag GGTGGTCAAGCA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAggtggtcaagcaAGATCGAGACCCGACGC chr9:78499910-Variant-C;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Reference G ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CGACCAAGATGG CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcgaccaagatggAGATCGAGACCCGACGC chr9:78499910-Reference-G;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Variant C ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CAACGATCACGA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcaacgatcacgaAGATCGAGACCCGACGC chr9:78499910-Variant-C;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Variant C ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag ACTCAACGCATA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggCtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAactcaacgcataAGATCGAGACCCGACGC chr9:78499910-Variant-C;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Reference G ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag AGGTGCGTTAGG CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAaggtgcgttaggAGATCGAGACCCGACGC chr9:78499910-Reference-G;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Reference G ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CTACGACCGTGA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggGtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAActacgaccgtgaAGATCGAGACCCGACGC chr9:78499910-Reference-G;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative T ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CAACTCTTGCGA CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcaactcttgcgaAGATCGAGACCCGACGC chr9:78499910-Alternative-T;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative T ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag ACTGTCTTCGAT CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAactgtcttcgatAGATCGAGACCCGACGC chr9:78499910-Alternative-T;Patient-83 chr9:78499910-GC DeNovo Patient-83 intergenic NA 0.000513 -0.31 0.34 -0.6 PCSK5 5649 Alternative T ttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcag CACACGTCAAGT CGACGCGGTCTCTCTCTttaacacatattttgtatgtttcttggcttctttttctgtgtgtgagaggTtgttgctctgtggcacagactggagtgcaatggtatgatcatggctcagAGAGGGAGACGGACGTCTCAATAAcacacgtcaagtAGATCGAGACCCGACGC chr9:78499910-Alternative-T;Patient-83 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Reference T gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GTTGAGCAAGCG CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAgttgagcaagcgAGATCGAGACCCGACGC chr9:80558241-Reference-T;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Reference T gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac AGGAACGACAAC CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAaggaacgacaacAGATCGAGACCCGACGC chr9:80558241-Reference-T;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Reference T gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GCATGCATATGG CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAgcatgcatatggAGATCGAGACCCGACGC chr9:80558241-Reference-T;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative G gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac AAGCAGCTGCCT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAaagcagctgcctAGATCGAGACCCGACGC chr9:80558241-Alternative-G;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative G gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GACAAGCCGTAC CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAgacaagccgtacAGATCGAGACCCGACGC chr9:80558241-Alternative-G;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative G gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac CTGCGAGCGTTA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAActgcgagcgttaAGATCGAGACCCGACGC chr9:80558241-Alternative-G;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative G gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac AAGATCGGCGGT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAaagatcggcggtAGATCGAGACCCGACGC chr9:80558241-Alternative-G;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Reference T gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac ACGCAACTATGT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAacgcaactatgtAGATCGAGACCCGACGC chr9:80558241-Reference-T;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Reference T gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac ACTCCTAGTAGA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataTactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAactcctagtagaAGATCGAGACCCGACGC chr9:80558241-Reference-T;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative G gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GCAAGTCGTGCT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataGactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAgcaagtcgtgctAGATCGAGACCCGACGC chr9:80558241-Alternative-G;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Variant C gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac AGCTACACCACA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAagctacaccacaAGATCGAGACCCGACGC chr9:80558241-Variant-C;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative A gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac CTGCGACGTAGT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAActgcgacgtagtAGATCGAGACCCGACGC chr9:80558241-Alternative-A;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative A gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac CGTTGTATCAAG CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAcgttgtatcaagAGATCGAGACCCGACGC chr9:80558241-Alternative-A;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative A gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GTCATACTCGAA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAgtcatactcgaaAGATCGAGACCCGACGC chr9:80558241-Alternative-A;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative A gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GGTATTCGATGT CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAggtattcgatgtAGATCGAGACCCGACGC chr9:80558241-Alternative-A;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Variant C gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac AGTAGTCCGTGC CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAagtagtccgtgcAGATCGAGACCCGACGC chr9:80558241-Variant-C;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Alternative A gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac ATCCGTACTCAA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataAactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAatccgtactcaaAGATCGAGACCCGACGC chr9:80558241-Alternative-A;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Variant C gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GGTCATCGCTGA CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAggtcatcgctgaAGATCGAGACCCGACGC chr9:80558241-Variant-C;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Variant C gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac GGCAATCAAGCG CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAAggcaatcaagcgAGATCGAGACCCGACGC chr9:80558241-Variant-C;Patient-77 chr9:80558241-TC DeNovo Patient-77 intronic GNAQ 0.000255 0.000198 NA NA NA GNAQ 87977 Variant C gccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaac CTAGAATCATGG CGACGCGGTCTCTCTCTgccaagctacaaaccacaaaagaaacttaagagatattaactacagtataCactgacacatgttcgacgtgtcttgagaaaaggaaaaatatgttgtaacAGAGGGAGACGGACGTCTCAATAActagaatcatggAGATCGAGACCCGACGC chr9:80558241-Variant-C;Patient-77 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative G cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta GTGTAACATGAG CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAgtgtaacatgagAGATCGAGACCCGACGC chr9:80621623-Alternative-G;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative G cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CGCGAATCCGAA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcgcgaatccgaaAGATCGAGACCCGACGC chr9:80621623-Alternative-G;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative G cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AGTATCGGAGAT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAagtatcggagatAGATCGAGACCCGACGC chr9:80621623-Alternative-G;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative A cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AGCCGGTAACAC CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAagccggtaacacAGATCGAGACCCGACGC chr9:80621623-Alternative-A;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Reference T cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta ACCGTAGGTTAT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAaccgtaggttatAGATCGAGACCCGACGC chr9:80621623-Reference-T;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative G cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CGATAGACGAAT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcgatagacgaatAGATCGAGACCCGACGC chr9:80621623-Alternative-G;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative A cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CACATTCAGCGG CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcacattcagcggAGATCGAGACCCGACGC chr9:80621623-Alternative-A;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative G cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CGACGTCGTCAA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataGgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcgacgtcgtcaaAGATCGAGACCCGACGC chr9:80621623-Alternative-G;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Reference T cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AGCGGATGACGA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAagcggatgacgaAGATCGAGACCCGACGC chr9:80621623-Reference-T;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Reference T cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CAGATCGTCGAC CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcagatcgtcgacAGATCGAGACCCGACGC chr9:80621623-Reference-T;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Reference T cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CGCTTACGTTCG CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcgcttacgttcgAGATCGAGACCCGACGC chr9:80621623-Reference-T;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative A cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta GACGATGACTAA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAgacgatgactaaAGATCGAGACCCGACGC chr9:80621623-Alternative-A;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Reference T cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta ACGCTACGAGCT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataTgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAacgctacgagctAGATCGAGACCCGACGC chr9:80621623-Reference-T;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative A cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta GTAACCTAACCA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAgtaacctaaccaAGATCGAGACCCGACGC chr9:80621623-Alternative-A;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Variant C cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AAGTAAGCAACC CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAaagtaagcaaccAGATCGAGACCCGACGC chr9:80621623-Variant-C;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Variant C cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AATATTAGGCCG CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAaatattaggccgAGATCGAGACCCGACGC chr9:80621623-Variant-C;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Variant C cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta GGTAATCACCAT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAggtaatcaccatAGATCGAGACCCGACGC chr9:80621623-Variant-C;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Variant C cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta GCGACGGTTAGA CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAgcgacggttagaAGATCGAGACCCGACGC chr9:80621623-Variant-C;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Alternative A cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta CACTAGAATTGC CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataAgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAcactagaattgcAGATCGAGACCCGACGC chr9:80621623-Alternative-A;Patient-88 chr9:80621623-TC DeNovo Patient-88 intronic GNAQ NA 4.95e-05 0.16 5.27 1.48 GNAQ 24595 Variant C cttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttcta AATAGACCGCCT CGACGCGGTCTCTCTCTcttttggaaatttactgcaaagttatgatggaaattgagttgttttcataCgtgtgtttagaactgtctaaatgtaacaaagtcgagtttgagacttctaAGAGGGAGACGGACGTCTCAATAAaatagaccgcctAGATCGAGACCCGACGC chr9:80621623-Variant-C;Patient-88 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Variant T ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CGGTGGAATGCA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAcggtggaatgcaAGATCGAGACCCGACGC chr9:80870375-Variant-T;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Reference C ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CTGCTATCGGCA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAActgctatcggcaAGATCGAGACCCGACGC chr9:80870375-Reference-C;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Variant T ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GCGAATAGTATC CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgcgaatagtatcAGATCGAGACCCGACGC chr9:80870375-Variant-T;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Variant T ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg ATAGCTACATGG CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAatagctacatggAGATCGAGACCCGACGC chr9:80870375-Variant-T;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative G ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg ATCGAACAGACG CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAatcgaacagacgAGATCGAGACCCGACGC chr9:80870375-Alternative-G;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative G ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GCGTAAGTACCT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgcgtaagtacctAGATCGAGACCCGACGC chr9:80870375-Alternative-G;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Reference C ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GACATACCTTGA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgacataccttgaAGATCGAGACCCGACGC chr9:80870375-Reference-C;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative A ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg AGTCTCGAACTA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAagtctcgaactaAGATCGAGACCCGACGC chr9:80870375-Alternative-A;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative A ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GCGTCATTACGC CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgcgtcattacgcAGATCGAGACCCGACGC chr9:80870375-Alternative-A;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Variant T ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CATTAGCTGGCG CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAcattagctggcgAGATCGAGACCCGACGC chr9:80870375-Variant-T;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Variant T ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CGTTCTGTTAGT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctTacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAcgttctgttagtAGATCGAGACCCGACGC chr9:80870375-Variant-T;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative G ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg ACTCGGAGTGCT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAactcggagtgctAGATCGAGACCCGACGC chr9:80870375-Alternative-G;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative G ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GTAGCGTTGGCA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgtagcgttggcaAGATCGAGACCCGACGC chr9:80870375-Alternative-G;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Reference C ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CTTAGACCGCCT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAActtagaccgcctAGATCGAGACCCGACGC chr9:80870375-Reference-C;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Reference C ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GCGCTGAGAACT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgcgctgagaactAGATCGAGACCCGACGC chr9:80870375-Reference-C;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative G ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg GTCATGTTCGTT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctGacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAgtcatgttcgttAGATCGAGACCCGACGC chr9:80870375-Alternative-G;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Reference C ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg ACTAGTACCGAA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctCacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAactagtaccgaaAGATCGAGACCCGACGC chr9:80870375-Reference-C;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative A ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CTTAATGCTAGG CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAActtaatgctaggAGATCGAGACCCGACGC chr9:80870375-Alternative-A;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative A ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg CTGTCCTAGATT CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAActgtcctagattAGATCGAGACCCGACGC chr9:80870375-Alternative-A;Patient-2 chr9:80870375-CT DeNovo Patient-2 intronic CEP78 NA 4.95e-05 -0.03 2.24 -0.7 CEP78 19383 Alternative A ctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttgg ACATGTCTCGAA CGACGCGGTCTCTCTCTctttttttatatacttacatgtagcttataaacaacaggaatgtatgtctAacagttctggaggcaggagagtccaagatcaaggctcaggcagatttggAGAGGGAGACGGACGTCTCAATAAacatgtctcgaaAGATCGAGACCCGACGC chr9:80870375-Alternative-A;Patient-2 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative T cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GTAAGTACACGT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgtaagtacacgtAGATCGAGACCCGACGC chr9:82183227-Alternative-T;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative T cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactct AGCTACGAACCG CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAagctacgaaccgAGATCGAGACCCGACGC chr9:82183227-Alternative-T;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative T cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactct CGCGCAAGTTCT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAcgcgcaagttctAGATCGAGACCCGACGC chr9:82183227-Alternative-T;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative T cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactct ATCGACCAGTAC CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAatcgaccagtacAGATCGAGACCCGACGC chr9:82183227-Alternative-T;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Reference A cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GATTGTGTGGTT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgattgtgtggttAGATCGAGACCCGACGC chr9:82183227-Reference-A;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Reference A cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactct AGCGCATGTAAT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAagcgcatgtaatAGATCGAGACCCGACGC chr9:82183227-Reference-A;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative G cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactct CGATGTCGACTA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAcgatgtcgactaAGATCGAGACCCGACGC chr9:82183227-Alternative-G;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Reference A cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactct ACTTGGAACCTA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAacttggaacctaAGATCGAGACCCGACGC chr9:82183227-Reference-A;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative T cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GTATAGGTCGAC CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccTagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgtataggtcgacAGATCGAGACCCGACGC chr9:82183227-Alternative-T;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative G cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GCGGAAGTTCAC CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgcggaagttcacAGATCGAGACCCGACGC chr9:82183227-Alternative-G;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative G cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactct AAGCAACTGTCG CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAaagcaactgtcgAGATCGAGACCCGACGC chr9:82183227-Alternative-G;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Reference A cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactct CAACGTAACCGA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAcaacgtaaccgaAGATCGAGACCCGACGC chr9:82183227-Reference-A;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Variant C cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GAGCAACATCCA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgagcaacatccaAGATCGAGACCCGACGC chr9:82183227-Variant-C;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Reference A cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GTTGGCGAGCAA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccAagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgttggcgagcaaAGATCGAGACCCGACGC chr9:82183227-Reference-A;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Variant C cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactct ATCGTCACAGTT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAatcgtcacagttAGATCGAGACCCGACGC chr9:82183227-Variant-C;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Variant C cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactct CATGTCATTCCA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAcatgtcattccaAGATCGAGACCCGACGC chr9:82183227-Variant-C;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative G cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GCATTCCGAGCA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAgcattccgagcaAGATCGAGACCCGACGC chr9:82183227-Alternative-G;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Variant C cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactct GGTACCGCCTAT CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAggtaccgcctatAGATCGAGACCCGACGC chr9:82183227-Variant-C;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Variant C cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactct AACGAGATGCAG CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccCagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAaacgagatgcagAGATCGAGACCCGACGC chr9:82183227-Variant-C;Patient-105 chr9:82183227-AC DeNovo Patient-105 intergenic NA 3.85e-05 -0.19 0.79 -3.91 TLE4 3460 Alternative G cttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactct CGGCCTTATATA CGACGCGGTCTCTCTCTcttcaagattggagctttcaggcctagcttttaacatgaaagttgctgccGagtgcctcccacatgaaaactctggaacaccccacctaccccccactctAGAGGGAGACGGACGTCTCAATAAcggccttatataAGATCGAGACCCGACGC chr9:82183227-Alternative-G;Patient-105 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Variant C agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc ACGGTAGTAGCG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAacggtagtagcgAGATCGAGACCCGACGC chr9:84235189-Variant-C;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative A agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AACCAAGAGTAC CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAaaccaagagtacAGATCGAGACCCGACGC chr9:84235189-Alternative-A;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Variant C agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc ACTCCAATTGAG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAactccaattgagAGATCGAGACCCGACGC chr9:84235189-Variant-C;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative A agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AACGCGCTAAGG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAaacgcgctaaggAGATCGAGACCCGACGC chr9:84235189-Alternative-A;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative A agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc GGCTTCTCTTAT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAggcttctcttatAGATCGAGACCCGACGC chr9:84235189-Alternative-A;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Variant C agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc GTTACTCGGACG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAgttactcggacgAGATCGAGACCCGACGC chr9:84235189-Variant-C;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative A agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AGTCCGGTATAT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAagtccggtatatAGATCGAGACCCGACGC chr9:84235189-Alternative-A;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Reference T agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc CGGCTTAGGAAC CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAcggcttaggaacAGATCGAGACCCGACGC chr9:84235189-Reference-T;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative A agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc GTTAGAAGAGCT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaAaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAgttagaagagctAGATCGAGACCCGACGC chr9:84235189-Alternative-A;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Reference T agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AGAATCGCACTT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAagaatcgcacttAGATCGAGACCCGACGC chr9:84235189-Reference-T;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative G agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc GATTACCGTAGT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAgattaccgtagtAGATCGAGACCCGACGC chr9:84235189-Alternative-G;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Variant C agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AGGCCAAGCAAG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAaggccaagcaagAGATCGAGACCCGACGC chr9:84235189-Variant-C;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Reference T agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AGCGTGCTACCA CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAagcgtgctaccaAGATCGAGACCCGACGC chr9:84235189-Reference-T;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Reference T agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc ACAACGATGCGC CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAacaacgatgcgcAGATCGAGACCCGACGC chr9:84235189-Reference-T;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative G agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc ATAGCACGGCCA CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAatagcacggccaAGATCGAGACCCGACGC chr9:84235189-Alternative-G;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative G agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AGGTAGGTGCGT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAaggtaggtgcgtAGATCGAGACCCGACGC chr9:84235189-Alternative-G;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative G agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc ATAGGTACGCGG CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAataggtacgcggAGATCGAGACCCGACGC chr9:84235189-Alternative-G;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Alternative G agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc CGCATCGTAATA CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaGaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAcgcatcgtaataAGATCGAGACCCGACGC chr9:84235189-Alternative-G;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Variant C agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc GCAGTATATGCT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaCaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAgcagtatatgctAGATCGAGACCCGACGC chr9:84235189-Variant-C;Patient-68 chr9:84235189-TC Inherited Patient-68 intronic TLE1 NA 9.9e-05 0.11 4.48 2.92 TLE1 69030 Reference T agtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctc AATAAGGCTCCT CGACGCGGTCTCTCTCTagtaacaaaggcaggaagtctaaagcttaacactgagcccggcagaagcaTaatttacagccccaaagggaaatactatcctacaatgtaagaacctctcAGAGGGAGACGGACGTCTCAATAAaataaggctcctAGATCGAGACCCGACGC chr9:84235189-Reference-T;Patient-68 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Variant C attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaac CGGCTGGTTCAA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcggctggttcaaAGATCGAGACCCGACGC chr9:84285091-Variant-C;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Variant C attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaac GTCATGAGTGTT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAgtcatgagtgttAGATCGAGACCCGACGC chr9:84285091-Variant-C;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Variant C attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaac GAGATCGTGTGG CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAgagatcgtgtggAGATCGAGACCCGACGC chr9:84285091-Variant-C;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Variant C attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaac ACGATGTCTCAA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAacgatgtctcaaAGATCGAGACCCGACGC chr9:84285091-Variant-C;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Variant C attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaac CGGCTTGACAAG CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaCagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcggcttgacaagAGATCGAGACCCGACGC chr9:84285091-Variant-C;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative G attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaac AACGATCTACAC CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAaacgatctacacAGATCGAGACCCGACGC chr9:84285091-Alternative-G;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative G attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaac GCGTGTGGTTGT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAgcgtgtggttgtAGATCGAGACCCGACGC chr9:84285091-Alternative-G;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative G attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaac GCGAATAGATCA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAgcgaatagatcaAGATCGAGACCCGACGC chr9:84285091-Alternative-G;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative G attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaac CGAGATGACGAC CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcgagatgacgacAGATCGAGACCCGACGC chr9:84285091-Alternative-G;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative A attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaac AACCAAGATGGT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAaaccaagatggtAGATCGAGACCCGACGC chr9:84285091-Alternative-A;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative A attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaac AGACCTTAGTCA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAagaccttagtcaAGATCGAGACCCGACGC chr9:84285091-Alternative-A;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative A attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaac CAACGAGATAGT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcaacgagatagtAGATCGAGACCCGACGC chr9:84285091-Alternative-A;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative A attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaac AGCATTCCGCGT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAagcattccgcgtAGATCGAGACCCGACGC chr9:84285091-Alternative-A;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative G attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaac CTAACCTAACGA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaGagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAActaacctaacgaAGATCGAGACCCGACGC chr9:84285091-Alternative-G;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Reference T attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaac AACCGCTTAACA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAaaccgcttaacaAGATCGAGACCCGACGC chr9:84285091-Reference-T;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Reference T attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaac GCGAATCTCGCT CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAgcgaatctcgctAGATCGAGACCCGACGC chr9:84285091-Reference-T;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Reference T attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaac CGGATAATGCGG CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcggataatgcggAGATCGAGACCCGACGC chr9:84285091-Reference-T;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Reference T attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaac CAGTAGAACGGC CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcagtagaacggcAGATCGAGACCCGACGC chr9:84285091-Reference-T;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Reference T attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaac ACAACGGTGTTA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaTagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAacaacggtgttaAGATCGAGACCCGACGC chr9:84285091-Reference-T;Patient-93 chr9:84285091-TC DeNovo Patient-93 intronic TLE1 3.2e-05 0.000198 1.89 18.2 4.94 TLE1 19128 Alternative A attctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaac CATAGGTAGACA CGACGCGGTCTCTCTCTattctgctagaattgtaacagccaatcaaatttacagtcctcctgagtaaAagacttggaaaagtagccacattcatctcctctttacagccatattaacAGAGGGAGACGGACGTCTCAATAAcataggtagacaAGATCGAGACCCGACGC chr9:84285091-Alternative-A;Patient-93 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative C gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc AGGACCACATAA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAaggaccacataaAGATCGAGACCCGACGC chr9:84350784-Alternative-C;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative C gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc CTATGATGCGAA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAActatgatgcgaaAGATCGAGACCCGACGC chr9:84350784-Alternative-C;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative C gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc ACGTTCAAGAAG CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAacgttcaagaagAGATCGAGACCCGACGC chr9:84350784-Alternative-C;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative C gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GCAGTAGCGTAC CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAgcagtagcgtacAGATCGAGACCCGACGC chr9:84350784-Alternative-C;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Variant A gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc CGACGACATCCA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAcgacgacatccaAGATCGAGACCCGACGC chr9:84350784-Variant-A;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Variant A gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc ACACGAGAAGCG CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAacacgagaagcgAGATCGAGACCCGACGC chr9:84350784-Variant-A;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative C gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GAGTATCAACCT CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttCctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAgagtatcaacctAGATCGAGACCCGACGC chr9:84350784-Alternative-C;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Variant A gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc AGCCGACTAATT CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAagccgactaattAGATCGAGACCCGACGC chr9:84350784-Variant-A;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Variant A gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc ATCTTGTTCGAC CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAatcttgttcgacAGATCGAGACCCGACGC chr9:84350784-Variant-A;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Variant A gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GACTATACACCG CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttActgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAgactatacaccgAGATCGAGACCCGACGC chr9:84350784-Variant-A;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Reference G gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc CACGCATTGTGC CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAcacgcattgtgcAGATCGAGACCCGACGC chr9:84350784-Reference-G;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Reference G gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GGTACCTGTAGA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAggtacctgtagaAGATCGAGACCCGACGC chr9:84350784-Reference-G;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative T gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc ATCACGATCGCT CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAatcacgatcgctAGATCGAGACCCGACGC chr9:84350784-Alternative-T;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Reference G gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GTTCCATAAGCA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAgttccataagcaAGATCGAGACCCGACGC chr9:84350784-Reference-G;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative T gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc ATTGGTCTACGA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAattggtctacgaAGATCGAGACCCGACGC chr9:84350784-Alternative-T;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative T gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc CGGTGTAGGTGT CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAcggtgtaggtgtAGATCGAGACCCGACGC chr9:84350784-Alternative-T;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Reference G gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc GTATTCGTAGGT CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAgtattcgtaggtAGATCGAGACCCGACGC chr9:84350784-Reference-G;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Reference G gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc AATAGTCGCGCG CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttGctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAaatagtcgcgcgAGATCGAGACCCGACGC chr9:84350784-Reference-G;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative T gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc AGATGCAGAGAA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAagatgcagagaaAGATCGAGACCCGACGC chr9:84350784-Alternative-T;Patient-85 chr9:84350784-GA Inherited Patient-85 intergenic 0.000527 0.00154 -0.09 1.49 0 TLE1 46563 Alternative T gagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctcc CGCCTTGGTCAA CGACGCGGTCTCTCTCTgagtctcgctctgtcgcccgggctggagtgcagtggcgcgacctcagcttTctgcaaactctgcctctccggttctcgccattctcctgcctcagcctccAGAGGGAGACGGACGTCTCAATAAcgccttggtcaaAGATCGAGACCCGACGC chr9:84350784-Alternative-T;Patient-85 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Reference G catttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GATGCAATGCTT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgatgcaatgcttAGATCGAGACCCGACGC chr9:84392048-Reference-G;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Reference G catttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GAAGAGCACTGA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgaagagcactgaAGATCGAGACCCGACGC chr9:84392048-Reference-G;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Reference G catttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat CGGATAGTAACT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAcggatagtaactAGATCGAGACCCGACGC chr9:84392048-Reference-G;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Reference G catttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GATGGTTGTCCT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgatggttgtcctAGATCGAGACCCGACGC chr9:84392048-Reference-G;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Reference G catttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GGATACGCCACT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaGttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAggatacgccactAGATCGAGACCCGACGC chr9:84392048-Reference-G;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Variant C catttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GGTATCCGATCG CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAggtatccgatcgAGATCGAGACCCGACGC chr9:84392048-Variant-C;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Variant C catttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat CGGTAATTACCA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAcggtaattaccaAGATCGAGACCCGACGC chr9:84392048-Variant-C;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative A catttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GCAATCGATACG CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgcaatcgatacgAGATCGAGACCCGACGC chr9:84392048-Alternative-A;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative T catttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GAATCGGCAACG CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgaatcggcaacgAGATCGAGACCCGACGC chr9:84392048-Alternative-T;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Variant C catttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat AGTGCCAGTCGT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAagtgccagtcgtAGATCGAGACCCGACGC chr9:84392048-Variant-C;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Variant C catttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GTACGACTTGCG CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgtacgacttgcgAGATCGAGACCCGACGC chr9:84392048-Variant-C;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative T catttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat AATCGCGGCGAT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAaatcgcggcgatAGATCGAGACCCGACGC chr9:84392048-Alternative-T;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Variant C catttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat CACGGCGTCTAA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaCttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAcacggcgtctaaAGATCGAGACCCGACGC chr9:84392048-Variant-C;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative A catttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat CTAACAGCGCGA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAActaacagcgcgaAGATCGAGACCCGACGC chr9:84392048-Alternative-A;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative T catttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GACGACTATGTT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAgacgactatgttAGATCGAGACCCGACGC chr9:84392048-Alternative-T;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative A catttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat ACTCGCTTCGCT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAactcgcttcgctAGATCGAGACCCGACGC chr9:84392048-Alternative-A;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative T catttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat AGGAATATGCGT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAaggaatatgcgtAGATCGAGACCCGACGC chr9:84392048-Alternative-T;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative A catttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat CACAGGACGTGA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAcacaggacgtgaAGATCGAGACCCGACGC chr9:84392048-Alternative-A;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative T catttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat ACAATGTGCGGT CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaTttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAacaatgtgcggtAGATCGAGACCCGACGC chr9:84392048-Alternative-T;Patient-22 chr9:84392048-GC Inherited Patient-22 intergenic 0.000159 0.000513 0.02 2.87 1.25 TLE1 87827 Alternative A catttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcat GGTGCGTAGCTA CGACGCGGTCTCTCTCTcatttacgttacctgttacctgtagtcctttgagtttgccacccctattaAttattaaagaaatgtttattgaactgagcaaacattaacatcactgcatAGAGGGAGACGGACGTCTCAATAAggtgcgtagctaAGATCGAGACCCGACGC chr9:84392048-Alternative-A;Patient-22 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Reference C catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaagg ACAGGTACGTAT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAacaggtacgtatAGATCGAGACCCGACGC chr9:87270835-Reference-C;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Reference C catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaagg CTATTGCATTCG CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAActattgcattcgAGATCGAGACCCGACGC chr9:87270835-Reference-C;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative A catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaagg AAGGCTTGCTAA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAaaggcttgctaaAGATCGAGACCCGACGC chr9:87270835-Alternative-A;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative A catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaagg GTCCGTGCTCAT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAgtccgtgctcatAGATCGAGACCCGACGC chr9:87270835-Alternative-A;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Reference C catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaagg CACGTCGAACAC CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAcacgtcgaacacAGATCGAGACCCGACGC chr9:87270835-Reference-C;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Variant T catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaagg GGACTTGAACGC CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAggacttgaacgcAGATCGAGACCCGACGC chr9:87270835-Variant-T;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Reference C catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaagg ACCTGACAAGCG CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAacctgacaagcgAGATCGAGACCCGACGC chr9:87270835-Reference-C;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Variant T catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaagg ATCTCGAACACG CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAatctcgaacacgAGATCGAGACCCGACGC chr9:87270835-Variant-T;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative A catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaagg GACCGATCATTA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAgaccgatcattaAGATCGAGACCCGACGC chr9:87270835-Alternative-A;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative A catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaagg ATCGATCGGCGA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAatcgatcggcgaAGATCGAGACCCGACGC chr9:87270835-Alternative-A;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative A catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaagg CAACAGGCGACT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaAttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAcaacaggcgactAGATCGAGACCCGACGC chr9:87270835-Alternative-A;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Reference C catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaagg GCCAATGGTCGT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaCttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAgccaatggtcgtAGATCGAGACCCGACGC chr9:87270835-Reference-C;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Variant T catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaagg AACGCGGATTGC CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAaacgcggattgcAGATCGAGACCCGACGC chr9:87270835-Variant-T;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative G catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaagg CATCGTATCGTT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAcatcgtatcgttAGATCGAGACCCGACGC chr9:87270835-Alternative-G;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative G catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaagg CTAGTAGTACGT CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAActagtagtacgtAGATCGAGACCCGACGC chr9:87270835-Alternative-G;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Variant T catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaagg CGTACTCTATCA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAcgtactctatcaAGATCGAGACCCGACGC chr9:87270835-Variant-T;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative G catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaagg ACTGGCCTCTGA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAactggcctctgaAGATCGAGACCCGACGC chr9:87270835-Alternative-G;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative G catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaagg GCACGTAATATC CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAgcacgtaatatcAGATCGAGACCCGACGC chr9:87270835-Alternative-G;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Alternative G catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaagg ATAGCGTGGTGG CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaGttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAatagcgtggtggAGATCGAGACCCGACGC chr9:87270835-Alternative-G;Patient-32 chr9:87270835-CT DeNovo Patient-32 intergenic NA 0.000513 0.03 3.13 -0.49 NTRK2 12630 Variant T catgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaagg ACCTGAGAATGA CGACGCGGTCTCTCTCTcatgctgtttccggcctccttgcattttactcatgccatcctcctggtcaTttctttgagatattaagtgcattctttaggactcagactcagctcaaggAGAGGGAGACGGACGTCTCAATAAacctgagaatgaAGATCGAGACCCGACGC chr9:87270835-Variant-T;Patient-32 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Variant T agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca GATCGCGATTGC CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgatcgcgattgcAGATCGAGACCCGACGC chr9:88803289-Variant-T;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Variant T agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca AACTATGTGGAG CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaactatgtggagAGATCGAGACCCGACGC chr9:88803289-Variant-T;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative G agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CTAGCTCGATAA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActagctcgataaAGATCGAGACCCGACGC chr9:88803289-Alternative-G;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative A agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca ACTTGTCGGCGA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacttgtcggcgaAGATCGAGACCCGACGC chr9:88803289-Alternative-A;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Variant T agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CGTACTATGTGA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgtactatgtgaAGATCGAGACCCGACGC chr9:88803289-Variant-T;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative G agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca AGGTGGCGTAAC CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaggtggcgtaacAGATCGAGACCCGACGC chr9:88803289-Alternative-G;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative G agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CTCAAGCGTGTT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAActcaagcgtgttAGATCGAGACCCGACGC chr9:88803289-Alternative-G;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Variant T agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca GCCTTCGGTCTA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgccttcggtctaAGATCGAGACCCGACGC chr9:88803289-Variant-T;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Reference C agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CACGGCCAATAT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcacggccaatatAGATCGAGACCCGACGC chr9:88803289-Reference-C;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Variant T agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CGCGAGCTAAGA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctTggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcgcgagctaagaAGATCGAGACCCGACGC chr9:88803289-Variant-T;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative A agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca ACCAATAGCGAA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaccaatagcgaaAGATCGAGACCCGACGC chr9:88803289-Alternative-A;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative G agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca AACGAGCTGAAC CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAaacgagctgaacAGATCGAGACCCGACGC chr9:88803289-Alternative-G;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative A agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca GGTGATCTCGCA CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAggtgatctcgcaAGATCGAGACCCGACGC chr9:88803289-Alternative-A;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Reference C agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca AGTACGGAACCT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAagtacggaacctAGATCGAGACCCGACGC chr9:88803289-Reference-C;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Reference C agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca AGTCTACGATGT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAagtctacgatgtAGATCGAGACCCGACGC chr9:88803289-Reference-C;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Reference C agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca GTAACGATCTGT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgtaacgatctgtAGATCGAGACCCGACGC chr9:88803289-Reference-C;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative A agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca GCAACTCCAACG CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAgcaactccaacgAGATCGAGACCCGACGC chr9:88803289-Alternative-A;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Reference C agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CGGCTAGTAGTC CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctCggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcggctagtagtcAGATCGAGACCCGACGC chr9:88803289-Reference-C;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative G agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca ACAACAAGCGCG CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctGggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAacaacaagcgcgAGATCGAGACCCGACGC chr9:88803289-Alternative-G;Patient-8 chr9:88803289-CT Inherited Patient-8 intergenic 9.6e-05 0.000513 -0.12 1.19 0 ISCA1 94200 Alternative A agtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctca CAGCGGTATAGT CGACGCGGTCTCTCTCTagtctcgctctgtcacccaggccggactgcggactgcagtggcgcaatctAggctcactgcaagctccgcttcctgggttcacgccattctcctgcctcaAGAGGGAGACGGACGTCTCAATAAcagcggtatagtAGATCGAGACCCGACGC chr9:88803289-Alternative-A;Patient-8 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative G ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GAATTGCGTGCG CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgaattgcgtgcgAGATCGAGACCCGACGC chr9:88820118-Alternative-G;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative G ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GTAAGGCTTCTA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgtaaggcttctaAGATCGAGACCCGACGC chr9:88820118-Alternative-G;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative G ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GTTCAAGCCTGG CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgttcaagcctggAGATCGAGACCCGACGC chr9:88820118-Alternative-G;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative G ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CTTATCGTGGTT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAActtatcgtggttAGATCGAGACCCGACGC chr9:88820118-Alternative-G;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative G ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga AGACTAAGACCG CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaGgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAagactaagaccgAGATCGAGACCCGACGC chr9:88820118-Alternative-G;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Variant T ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga AAGTCGTCGTCG CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAaagtcgtcgtcgAGATCGAGACCCGACGC chr9:88820118-Variant-T;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Variant T ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CTTGTCTTACGA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAActtgtcttacgaAGATCGAGACCCGACGC chr9:88820118-Variant-T;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Variant T ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CGTTGACCTACA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAcgttgacctacaAGATCGAGACCCGACGC chr9:88820118-Variant-T;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative A ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GTACCTTCAACT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgtaccttcaactAGATCGAGACCCGACGC chr9:88820118-Alternative-A;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Reference C ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GCATCGACTCTA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgcatcgactctaAGATCGAGACCCGACGC chr9:88820118-Reference-C;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative A ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga ATAGCAGTCAGT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAatagcagtcagtAGATCGAGACCCGACGC chr9:88820118-Alternative-A;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative A ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CTCGGCGATCAA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAActcggcgatcaaAGATCGAGACCCGACGC chr9:88820118-Alternative-A;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative A ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CGCTTGAGGCTA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAcgcttgaggctaAGATCGAGACCCGACGC chr9:88820118-Alternative-A;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Variant T ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga AACTCGGCGACT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAaactcggcgactAGATCGAGACCCGACGC chr9:88820118-Variant-T;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Reference C ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GGACCGACCATA CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAggaccgaccataAGATCGAGACCCGACGC chr9:88820118-Reference-C;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Reference C ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GATAGTATGCCT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgatagtatgcctAGATCGAGACCCGACGC chr9:88820118-Reference-C;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Variant T ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga GTGTACGTCACG CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaTgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAgtgtacgtcacgAGATCGAGACCCGACGC chr9:88820118-Variant-T;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Alternative A ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga AATGGCGAGATT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaAgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAaatggcgagattAGATCGAGACCCGACGC chr9:88820118-Alternative-A;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Reference C ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga CTGGTCGGAATC CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAActggtcggaatcAGATCGAGACCCGACGC chr9:88820118-Reference-C;Patient-15 chr9:88820118-CT DeNovo Patient-15 intergenic 0.000446 0.00201 0.06 3.6 0.11 ISCA1 77371 Reference C ctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaataga AGTTCGCGAGGT CGACGCGGTCTCTCTCTctaggcaaataaactagaaaatctagaagaaatggataaattcctggacaCgtacaccctcccaagactaaaccaggaagaagttaaatccctgaatagaAGAGGGAGACGGACGTCTCAATAAagttcgcgaggtAGATCGAGACCCGACGC chr9:88820118-Reference-C;Patient-15 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative A accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga AATGACCGTGTT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAaatgaccgtgttAGATCGAGACCCGACGC chr9:89532787-Alternative-A;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Reference C accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CACTAGCGAACG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAcactagcgaacgAGATCGAGACCCGACGC chr9:89532787-Reference-C;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Reference C accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga GTCAAGTGAACA CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAgtcaagtgaacaAGATCGAGACCCGACGC chr9:89532787-Reference-C;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Reference C accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga GAGTCATGTCAT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAgagtcatgtcatAGATCGAGACCCGACGC chr9:89532787-Reference-C;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Variant T accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga GTTACGAACCGC CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAgttacgaaccgcAGATCGAGACCCGACGC chr9:89532787-Variant-T;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative G accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga GTGTAATGCCGC CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAgtgtaatgccgcAGATCGAGACCCGACGC chr9:89532787-Alternative-G;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Reference C accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga AACGATGAAGCT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAaacgatgaagctAGATCGAGACCCGACGC chr9:89532787-Reference-C;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative A accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CGACGGCAGATA CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAcgacggcagataAGATCGAGACCCGACGC chr9:89532787-Alternative-A;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative G accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CAACGACTACTA CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAcaacgactactaAGATCGAGACCCGACGC chr9:89532787-Alternative-G;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Reference C accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga ACTCCAATGGAT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacCtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAactccaatggatAGATCGAGACCCGACGC chr9:89532787-Reference-C;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative A accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga GAATCAGTCGTT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAgaatcagtcgttAGATCGAGACCCGACGC chr9:89532787-Alternative-A;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative A accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga ATCCGAAGCATC CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAatccgaagcatcAGATCGAGACCCGACGC chr9:89532787-Alternative-A;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Variant T accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga AGTTGGATTGTC CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAagttggattgtcAGATCGAGACCCGACGC chr9:89532787-Variant-T;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Variant T accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga AGGCTAACCACG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAaggctaaccacgAGATCGAGACCCGACGC chr9:89532787-Variant-T;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative G accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CTCGTTGGAGGT CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAActcgttggaggtAGATCGAGACCCGACGC chr9:89532787-Alternative-G;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative A accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CTGTCGCTATCG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacAtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAActgtcgctatcgAGATCGAGACCCGACGC chr9:89532787-Alternative-A;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative G accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga AATGAGAGGCGG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAaatgagaggcggAGATCGAGACCCGACGC chr9:89532787-Alternative-G;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Variant T accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CAAGCGCCAACA CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAcaagcgccaacaAGATCGAGACCCGACGC chr9:89532787-Variant-T;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Alternative G accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga CGTCGGCTTAAG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacGtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAcgtcggcttaagAGATCGAGACCCGACGC chr9:89532787-Alternative-G;Patient-20 chr9:89532787-CT DeNovo Patient-20 intergenic NA 0.000512821 0.12 4.64 0.33 GAS1 29316 Variant T accacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaaga ACCGTAATACGG CGACGCGGTCTCTCTCTaccacctgcaagcctgggggctttgagaaatccagcctcttgggccccacTtctggagactctggttcagtgggtctggaagcagttgtcctggtgaagaAGAGGGAGACGGACGTCTCAATAAaccgtaatacggAGATCGAGACCCGACGC chr9:89532787-Variant-T;Patient-20 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative T ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CGTCTGTGTCGT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcgtctgtgtcgtAGATCGAGACCCGACGC chr9:90026723-Alternative-T;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative T ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTCGGTAATGAG CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActcggtaatgagAGATCGAGACCCGACGC chr9:90026723-Alternative-T;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative C ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt ACCTCAACAAGT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAacctcaacaagtAGATCGAGACCCGACGC chr9:90026723-Alternative-C;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative T ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt GTAAGCGCCACA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAgtaagcgccacaAGATCGAGACCCGACGC chr9:90026723-Alternative-T;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative C ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CGTGCGATCAAT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcgtgcgatcaatAGATCGAGACCCGACGC chr9:90026723-Alternative-C;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Variant A ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CAGCGTCTTCGT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcagcgtcttcgtAGATCGAGACCCGACGC chr9:90026723-Variant-A;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative T ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTCTAAGTCTAC CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActctaagtctacAGATCGAGACCCGACGC chr9:90026723-Alternative-T;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative C ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CATTCGGTTCTA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcattcggttctaAGATCGAGACCCGACGC chr9:90026723-Alternative-C;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Reference G ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt ATAGATGACGCA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAatagatgacgcaAGATCGAGACCCGACGC chr9:90026723-Reference-G;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Reference G ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt AGGCCGTGAACT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAaggccgtgaactAGATCGAGACCCGACGC chr9:90026723-Reference-G;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative C ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTTGATCCTACA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActtgatcctacaAGATCGAGACCCGACGC chr9:90026723-Alternative-C;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Variant A ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTGTGCATTGAA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActgtgcattgaaAGATCGAGACCCGACGC chr9:90026723-Variant-A;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative C ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt ACCAACTGGTGT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaCggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAaccaactggtgtAGATCGAGACCCGACGC chr9:90026723-Alternative-C;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Reference G ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CGATCAACGATT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcgatcaacgattAGATCGAGACCCGACGC chr9:90026723-Reference-G;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Reference G ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt ACGCAGATGTGG CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAacgcagatgtggAGATCGAGACCCGACGC chr9:90026723-Reference-G;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Variant A ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTAATCACGCAA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActaatcacgcaaAGATCGAGACCCGACGC chr9:90026723-Variant-A;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Variant A ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CGACACCTAGGT CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcgacacctaggtAGATCGAGACCCGACGC chr9:90026723-Variant-A;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Reference G ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CTTACCGTAACA CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaGggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAActtaccgtaacaAGATCGAGACCCGACGC chr9:90026723-Reference-G;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Alternative T ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt CATCATGGAATC CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaTggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAcatcatggaatcAGATCGAGACCCGACGC chr9:90026723-Alternative-T;Patient-15 chr9:90026723-GA DeNovo Patient-15 intergenic NA 3.92e-05 0.05 3.4 0 DAPK1 86032 Variant A ccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgctt GATATTGACGTC CGACGCGGTCTCTCTCTccaagcccttctctccttgtctctaccccttctctgcttttccggggacaAggcaagtaccccaaccccttctttccttgtctctaccccttctctgcttAGAGGGAGACGGACGTCTCAATAAgatattgacgtcAGATCGAGACCCGACGC chr9:90026723-Variant-A;Patient-15 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Reference T gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CTATGCCATATC CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAActatgccatatcAGATCGAGACCCGACGC chr9:90378729-Reference-T;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative A gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc AGATCCTAGAAG CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAagatcctagaagAGATCGAGACCCGACGC chr9:90378729-Alternative-A;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative A gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GTCTATATCGAC CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgtctatatcgacAGATCGAGACCCGACGC chr9:90378729-Alternative-A;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Variant C gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GTTCAACTGAGT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgttcaactgagtAGATCGAGACCCGACGC chr9:90378729-Variant-C;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Reference T gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CTAACTTGTCGT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAActaacttgtcgtAGATCGAGACCCGACGC chr9:90378729-Reference-T;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Variant C gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CTATGGTTGCTT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAActatggttgcttAGATCGAGACCCGACGC chr9:90378729-Variant-C;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative A gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc AGACGTTCGTCA CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAagacgttcgtcaAGATCGAGACCCGACGC chr9:90378729-Alternative-A;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Variant C gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CGTTGTAGTCGG CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAcgttgtagtcggAGATCGAGACCCGACGC chr9:90378729-Variant-C;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Variant C gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CGTCTGTTCGCA CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAcgtctgttcgcaAGATCGAGACCCGACGC chr9:90378729-Variant-C;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative A gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GTTAACGAACGC CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgttaacgaacgcAGATCGAGACCCGACGC chr9:90378729-Alternative-A;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Reference T gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CAAGATTCACCG CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAcaagattcaccgAGATCGAGACCCGACGC chr9:90378729-Reference-T;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Variant C gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GTGTCGCGTTGT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaCctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgtgtcgcgttgtAGATCGAGACCCGACGC chr9:90378729-Variant-C;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative G gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CTGGTCGTCTGT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAActggtcgtctgtAGATCGAGACCCGACGC chr9:90378729-Alternative-G;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative A gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CACGCATTATGA CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaActaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAcacgcattatgaAGATCGAGACCCGACGC chr9:90378729-Alternative-A;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Reference T gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc CAACACAACGGC CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAcaacacaacggcAGATCGAGACCCGACGC chr9:90378729-Reference-T;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative G gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GAGAGCGTCGAT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgagagcgtcgatAGATCGAGACCCGACGC chr9:90378729-Alternative-G;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative G gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GTTGACGGACGA CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAgttgacggacgaAGATCGAGACCCGACGC chr9:90378729-Alternative-G;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative G gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc ATCCGTACTCTT CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAatccgtactcttAGATCGAGACCCGACGC chr9:90378729-Alternative-G;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Alternative G gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc ATTACAATGCGG CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaGctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAattacaatgcggAGATCGAGACCCGACGC chr9:90378729-Alternative-G;Patient-87 chr9:90378729-TC Inherited Patient-87 intergenic 0.000542 0.00205 0.19 5.72 0.06 CTSL 37754 Reference T gctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttc GGTGTTGAGGAC CGACGCGGTCTCTCTCTgctgtacccctcatctgaaacagtggaatctgattgcccagagaaatacaTctaagtgtcagatattggtttccgcaggaaaaaaaaatcctctgtgttcAGAGGGAGACGGACGTCTCAATAAggtgttgaggacAGATCGAGACCCGACGC chr9:90378729-Reference-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative T cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CGGCAACGCTAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcggcaacgctatAGATCGAGACCCGACGC chr9:90556457-Alternative-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative T cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CGTAGAATGGAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcgtagaatggatAGATCGAGACCCGACGC chr9:90556457-Alternative-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative T cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa ACAGCTACCGGT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAacagctaccggtAGATCGAGACCCGACGC chr9:90556457-Alternative-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Variant A cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CAGTTCGTTCAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcagttcgttcatAGATCGAGACCCGACGC chr9:90556457-Variant-A;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative G cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa ACCAATGGTCAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAaccaatggtcatAGATCGAGACCCGACGC chr9:90556457-Alternative-G;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Reference C cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GACGTACCTGAA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAgacgtacctgaaAGATCGAGACCCGACGC chr9:90556457-Reference-C;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative G cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CATAATTGGCGA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcataattggcgaAGATCGAGACCCGACGC chr9:90556457-Alternative-G;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative G cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CGGATAATTACG CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcggataattacgAGATCGAGACCCGACGC chr9:90556457-Alternative-G;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Variant A cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GGAAGTACTCGG CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAggaagtactcggAGATCGAGACCCGACGC chr9:90556457-Variant-A;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative G cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CGTCCATACTTA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAcgtccatacttaAGATCGAGACCCGACGC chr9:90556457-Alternative-G;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative T cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GTATAATTCCGG CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAgtataattccggAGATCGAGACCCGACGC chr9:90556457-Alternative-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative G cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CTTGGTAGCGTC CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattGccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAActtggtagcgtcAGATCGAGACCCGACGC chr9:90556457-Alternative-G;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Variant A cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GAATTGGCGTAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAgaattggcgtatAGATCGAGACCCGACGC chr9:90556457-Variant-A;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Variant A cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GTATCGTTGAAC CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAgtatcgttgaacAGATCGAGACCCGACGC chr9:90556457-Variant-A;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Reference C cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa AGTTCCACTAAG CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAagttccactaagAGATCGAGACCCGACGC chr9:90556457-Reference-C;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Alternative T cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa ACTGCATCTTGT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattTccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAactgcatcttgtAGATCGAGACCCGACGC chr9:90556457-Alternative-T;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Reference C cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa CTTGGATGCTAA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAActtggatgctaaAGATCGAGACCCGACGC chr9:90556457-Reference-C;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Variant A cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GTACCTCCGTAA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattAccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAgtacctccgtaaAGATCGAGACCCGACGC chr9:90556457-Variant-A;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Reference C cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa ACCTCGGAGCAA CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAacctcggagcaaAGATCGAGACCCGACGC chr9:90556457-Reference-C;Patient-87 chr9:90556457-CA Inherited Patient-87 intergenic NA 0.000512821 0.12 4.57 0.12 CDK20 33237 Reference C cagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaa GGATGACGGCAT CGACGCGGTCTCTCTCTcagctactataaagatttttttaagaaccctaaatgcaaaggaaatcattCccaggcttttaagcaggggcatgatattatctgaattgcattttaaaaaAGAGGGAGACGGACGTCTCAATAAggatgacggcatAGATCGAGACCCGACGC chr9:90556457-Reference-C;Patient-87 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Reference A caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa AAGATTCGGAAC CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAaagattcggaacAGATCGAGACCCGACGC chr9:91855563-Reference-A;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative C caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa GACATAACGCGG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAgacataacgcggAGATCGAGACCCGACGC chr9:91855563-Alternative-C;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Reference A caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa ACGCTACGATGG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAacgctacgatggAGATCGAGACCCGACGC chr9:91855563-Reference-A;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative T caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa GTTATCAGAGCG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAgttatcagagcgAGATCGAGACCCGACGC chr9:91855563-Alternative-T;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative T caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa AGGAACGATACG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAaggaacgatacgAGATCGAGACCCGACGC chr9:91855563-Alternative-T;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Reference A caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CTGCTGTACTAT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAActgctgtactatAGATCGAGACCCGACGC chr9:91855563-Reference-A;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Reference A caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CGGCCATGAGAA CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcggccatgagaaAGATCGAGACCCGACGC chr9:91855563-Reference-A;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative C caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CTTACCGTGACT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAActtaccgtgactAGATCGAGACCCGACGC chr9:91855563-Alternative-C;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative C caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CTAGTGGTTAGT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAActagtggttagtAGATCGAGACCCGACGC chr9:91855563-Alternative-C;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Reference A caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CAGGCTTGCTTC CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgAataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcaggcttgcttcAGATCGAGACCCGACGC chr9:91855563-Reference-A;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative C caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa ATAACATCGGAG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAataacatcggagAGATCGAGACCCGACGC chr9:91855563-Alternative-C;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Variant G caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa AATGAGGCTGAT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAaatgaggctgatAGATCGAGACCCGACGC chr9:91855563-Variant-G;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative C caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CAGTATGTACCT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgCataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcagtatgtacctAGATCGAGACCCGACGC chr9:91855563-Alternative-C;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Variant G caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa ACACGATATGCT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAacacgatatgctAGATCGAGACCCGACGC chr9:91855563-Variant-G;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative T caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa GTCATGGAGTGG CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAgtcatggagtggAGATCGAGACCCGACGC chr9:91855563-Alternative-T;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Variant G caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CTTGGAACGCCT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAActtggaacgcctAGATCGAGACCCGACGC chr9:91855563-Variant-G;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Variant G caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa ACAACAGGTCTT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAacaacaggtcttAGATCGAGACCCGACGC chr9:91855563-Variant-G;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Variant G caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CAACTCGGATTA CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgGataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcaactcggattaAGATCGAGACCCGACGC chr9:91855563-Variant-G;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative T caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CACTTAACAACC CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcacttaacaaccAGATCGAGACCCGACGC chr9:91855563-Alternative-T;Patient-78 chr9:91855563-AG DeNovo Patient-78 intergenic NA 0.000513 0.2 5.84 0.56 SHC3 61880 Alternative T caggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaa CACAGGTAGGTT CGACGCGGTCTCTCTCTcaggagaaaatatttgcaaaccatgtatttaaccaaagactagtatcctgTataaacaaagaacttgcaaaacttgacaattaagaaaagtcaattagaaAGAGGGAGACGGACGTCTCAATAAcacaggtaggttAGATCGAGACCCGACGC chr9:91855563-Alternative-T;Patient-78 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative A caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc ATTCCGCGATAA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAattccgcgataaAGATCGAGACCCGACGC chr9:93525267-Alternative-A;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Reference G caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc ACCTACATAGCA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAacctacatagcaAGATCGAGACCCGACGC chr9:93525267-Reference-G;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative A caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GGTGTACTAGAA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAggtgtactagaaAGATCGAGACCCGACGC chr9:93525267-Alternative-A;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Reference G caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GATCGACGGTCT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAgatcgacggtctAGATCGAGACCCGACGC chr9:93525267-Reference-G;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Reference G caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CGAGATATACGA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcgagatatacgaAGATCGAGACCCGACGC chr9:93525267-Reference-G;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative A caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CGATATGCTCAT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcgatatgctcatAGATCGAGACCCGACGC chr9:93525267-Alternative-A;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Variant C caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc AGAAGTGTAAGG CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAagaagtgtaaggAGATCGAGACCCGACGC chr9:93525267-Variant-C;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative A caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc AAGTAAGGACGA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAaagtaaggacgaAGATCGAGACCCGACGC chr9:93525267-Alternative-A;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Reference G caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GGAGGTAACGAG CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAggaggtaacgagAGATCGAGACCCGACGC chr9:93525267-Reference-G;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative A caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CGATTAACGCGA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagAggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcgattaacgcgaAGATCGAGACCCGACGC chr9:93525267-Alternative-A;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Reference G caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CGCTATCGTCAC CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagGggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcgctatcgtcacAGATCGAGACCCGACGC chr9:93525267-Reference-G;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative T caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CAGTTGCGTCGA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcagttgcgtcgaAGATCGAGACCCGACGC chr9:93525267-Alternative-T;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative T caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GGAATTGCACAC CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAggaattgcacacAGATCGAGACCCGACGC chr9:93525267-Alternative-T;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative T caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GATAGCGTAGAT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAgatagcgtagatAGATCGAGACCCGACGC chr9:93525267-Alternative-T;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Variant C caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc ACTCATGTCACG CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAactcatgtcacgAGATCGAGACCCGACGC chr9:93525267-Variant-C;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative T caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc CAAGCGGAACCT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAcaagcggaacctAGATCGAGACCCGACGC chr9:93525267-Alternative-T;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Variant C caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc AAGCGTAGTGTT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAaagcgtagtgttAGATCGAGACCCGACGC chr9:93525267-Variant-C;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Alternative T caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc GTTGTAATGCCA CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagTggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAgttgtaatgccaAGATCGAGACCCGACGC chr9:93525267-Alternative-T;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Variant C caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc ACCTGGACACCT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAacctggacacctAGATCGAGACCCGACGC chr9:93525267-Variant-C;Patient-87 chr9:93525267-GC Inherited Patient-87 intergenic 0.000288 0.00358 -0.01 2.54 0 SYK 38744 Variant C caatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcacc AACTCCGCGATT CGACGCGGTCTCTCTCTcaatatggtaaacaggctgtgagtccaccgcggatcctaaaaaccaggagCggggagaggggctggctcttactccccgcatcgcggggggtgcctcaccAGAGGGAGACGGACGTCTCAATAAaactccgcgattAGATCGAGACCCGACGC chr9:93525267-Variant-C;Patient-87 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative C agaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CGATTCTCCGCA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcgattctccgcaAGATCGAGACCCGACGC chr9:94881934-Alternative-C;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Reference G agaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GCGTACCTTGCA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgcgtaccttgcaAGATCGAGACCCGACGC chr9:94881934-Reference-G;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative C agaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CGCTGTACGCTT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcgctgtacgcttAGATCGAGACCCGACGC chr9:94881934-Alternative-C;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative C agaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CATAGTTCGTGA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcatagttcgtgaAGATCGAGACCCGACGC chr9:94881934-Alternative-C;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative T agaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GACTGATCCAAT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgactgatccaatAGATCGAGACCCGACGC chr9:94881934-Alternative-T;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Reference G agaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CGCTAGTGGAGT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcgctagtggagtAGATCGAGACCCGACGC chr9:94881934-Reference-G;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative T agaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GTGTAGTTACGT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgtgtagttacgtAGATCGAGACCCGACGC chr9:94881934-Alternative-T;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Variant A agaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcaca ACCACGCGGTAT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAaccacgcggtatAGATCGAGACCCGACGC chr9:94881934-Variant-A;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Variant A agaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcaca AGCTCTGTTAAC CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAagctctgttaacAGATCGAGACCCGACGC chr9:94881934-Variant-A;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Variant A agaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CATCGTTGAGCA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcatcgttgagcaAGATCGAGACCCGACGC chr9:94881934-Variant-A;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative T agaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CACAACCACAAC CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcacaaccacaacAGATCGAGACCCGACGC chr9:94881934-Alternative-T;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Variant A agaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GATACGAGGATT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgatacgaggattAGATCGAGACCCGACGC chr9:94881934-Variant-A;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative T agaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CGTCAGTAGCGA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcgtcagtagcgaAGATCGAGACCCGACGC chr9:94881934-Alternative-T;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative C agaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcaca AACAGATGGAGA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAaacagatggagaAGATCGAGACCCGACGC chr9:94881934-Alternative-C;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative C agaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GATAAGGATCGT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccCtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgataaggatcgtAGATCGAGACCCGACGC chr9:94881934-Alternative-C;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Reference G agaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CGCCTAGCTTCT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcgcctagcttctAGATCGAGACCCGACGC chr9:94881934-Reference-G;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Reference G agaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GCAATGGTGTGG CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAgcaatggtgtggAGATCGAGACCCGACGC chr9:94881934-Reference-G;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Reference G agaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcaca CAGCTAACTAGA CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccGtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAcagctaactagaAGATCGAGACCCGACGC chr9:94881934-Reference-G;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Variant A agaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcaca AGACTAGATGGT CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccAtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAagactagatggtAGATCGAGACCCGACGC chr9:94881934-Variant-A;Patient-17 chr9:94881934-GA Inherited Patient-17 intergenic 0.000127 0.00256 0.02 2.98 0.15 SPTLC1 4177 Alternative T agaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcaca GGTAGGAGATGG CGACGCGGTCTCTCTCTagaacccccacagatctttcctggataacgctggatctatccttggatccTtgagataattgagggatccatcagttgtatagcagatctcttcagcacaAGAGGGAGACGGACGTCTCAATAAggtaggagatggAGATCGAGACCCGACGC chr9:94881934-Alternative-T;Patient-17 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Variant T cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg CTTACAGTATGG CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAActtacagtatggAGATCGAGACCCGACGC chr9:95126319-Variant-T;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Variant T cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg ATAGTGCTTCGC CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAatagtgcttcgcAGATCGAGACCCGACGC chr9:95126319-Variant-T;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative G cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg CTACCATAACAG CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAActaccataacagAGATCGAGACCCGACGC chr9:95126319-Alternative-G;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative G cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg AAGAATCAACCG CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAaagaatcaaccgAGATCGAGACCCGACGC chr9:95126319-Alternative-G;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative G cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg CGGTAGCATGCA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAcggtagcatgcaAGATCGAGACCCGACGC chr9:95126319-Alternative-G;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative G cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg CGCGTTCCGTAA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAcgcgttccgtaaAGATCGAGACCCGACGC chr9:95126319-Alternative-G;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative G cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GATTGGTCTAGT CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagGtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgattggtctagtAGATCGAGACCCGACGC chr9:95126319-Alternative-G;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Variant T cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GCGCAATCCGAA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgcgcaatccgaaAGATCGAGACCCGACGC chr9:95126319-Variant-T;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Variant T cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg ATCTGTGCTGAA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAatctgtgctgaaAGATCGAGACCCGACGC chr9:95126319-Variant-T;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative C cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GAGCATCGACGA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgagcatcgacgaAGATCGAGACCCGACGC chr9:95126319-Alternative-C;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative C cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GGACTTCGGCAT CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAggacttcggcatAGATCGAGACCCGACGC chr9:95126319-Alternative-C;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Reference A cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GAGATGATAGTC CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgagatgatagtcAGATCGAGACCCGACGC chr9:95126319-Reference-A;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Reference A cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg AAGCGTGGTCGA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAaagcgtggtcgaAGATCGAGACCCGACGC chr9:95126319-Reference-A;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Reference A cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg AACTTACGACCA CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAaacttacgaccaAGATCGAGACCCGACGC chr9:95126319-Reference-A;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Reference A cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg CAGACTACGTGC CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAcagactacgtgcAGATCGAGACCCGACGC chr9:95126319-Reference-A;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative C cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GAATTACCTACC CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgaattacctaccAGATCGAGACCCGACGC chr9:95126319-Alternative-C;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Variant T cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GTTGGAAGACAT CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagTtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgttggaagacatAGATCGAGACCCGACGC chr9:95126319-Variant-T;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative C cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg AAGGTTGTAGGT CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAaaggttgtaggtAGATCGAGACCCGACGC chr9:95126319-Alternative-C;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Alternative C cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg GTATCCTATTCG CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagCtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAgtatcctattcgAGATCGAGACCCGACGC chr9:95126319-Alternative-C;Patient-84 chr9:95126319-AT DeNovo Patient-84 intronic CENPP NA 4.95e-05 0.2 5.79 0.23 CENPP 38577 Reference A cacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcagg ACTTCTGTAGTC CGACGCGGTCTCTCTCTcacaggcatgcaccaccatgcccagctaattttttgtatttttggtagagAtgggtttttgccatgttgcccaggctggtcttgaactcctgggttcaggAGAGGGAGACGGACGTCTCAATAAacttctgtagtcAGATCGAGACCCGACGC chr9:95126319-Reference-A;Patient-84 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative G tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcag GTCAATTGGTCT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAgtcaattggtctAGATCGAGACCCGACGC chr9:97293248-Alternative-G;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative G tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcag ACGGTATGTAGA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAacggtatgtagaAGATCGAGACCCGACGC chr9:97293248-Alternative-G;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative G tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcag GGAGGAGTCGAA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAggaggagtcgaaAGATCGAGACCCGACGC chr9:97293248-Alternative-G;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative G tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcag ATTACGGATGCT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAattacggatgctAGATCGAGACCCGACGC chr9:97293248-Alternative-G;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Reference T tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcag AGGTTCGAGCCA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAaggttcgagccaAGATCGAGACCCGACGC chr9:97293248-Reference-T;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative G tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcag GGCTTGATCTTA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttGgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAggcttgatcttaAGATCGAGACCCGACGC chr9:97293248-Alternative-G;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Reference T tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CACGCTCCTTCT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcacgctccttctAGATCGAGACCCGACGC chr9:97293248-Reference-T;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Variant C tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcag AGGTTGAACAGT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAaggttgaacagtAGATCGAGACCCGACGC chr9:97293248-Variant-C;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Reference T tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcag GTCGCCTATAGA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAgtcgcctatagaAGATCGAGACCCGACGC chr9:97293248-Reference-T;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Reference T tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CATAGGTTCTGA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcataggttctgaAGATCGAGACCCGACGC chr9:97293248-Reference-T;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Variant C tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcag ACGTAATTCGGT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAacgtaattcggtAGATCGAGACCCGACGC chr9:97293248-Variant-C;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative A tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CTAATAAGGACG CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAActaataaggacgAGATCGAGACCCGACGC chr9:97293248-Alternative-A;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Reference T tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcag ACGTTCCAACCT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttTgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAacgttccaacctAGATCGAGACCCGACGC chr9:97293248-Reference-T;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Variant C tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CTACGTGCGGTT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAActacgtgcggttAGATCGAGACCCGACGC chr9:97293248-Variant-C;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Variant C tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CGGATAACGTGG CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcggataacgtggAGATCGAGACCCGACGC chr9:97293248-Variant-C;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Variant C tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcag AGCGGTATTGCG CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttCgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAagcggtattgcgAGATCGAGACCCGACGC chr9:97293248-Variant-C;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative A tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CGCGAGAGCTAA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcgcgagagctaaAGATCGAGACCCGACGC chr9:97293248-Alternative-A;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative A tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CGTTAGTGCGGT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcgttagtgcggtAGATCGAGACCCGACGC chr9:97293248-Alternative-A;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative A tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcag CAGACGTCTAAT CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAcagacgtctaatAGATCGAGACCCGACGC chr9:97293248-Alternative-A;Patient-25 chr9:97293248-TC Inherited Patient-25 intergenic 0.000574 0.134 -0.04 2.08 0 FBP2 62826 Alternative A tgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcag GGCGTATGCTGA CGACGCGGTCTCTCTCTtgctgggattacaggcgtgagccaccgcgcccggccaaacaccatgttttAgcttatgagtgggagctaaataatgagaacacatggacacagggagcagAGAGGGAGACGGACGTCTCAATAAggcgtatgctgaAGATCGAGACCCGACGC chr9:97293248-Alternative-A;Patient-25 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Reference G attcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CACGGATTAACT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAcacggattaactAGATCGAGACCCGACGC chr9:97996601-Reference-G;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative T attcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CTTGTCTCGGAC CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAActtgtctcggacAGATCGAGACCCGACGC chr9:97996601-Alternative-T;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Reference G attcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GTCGAACATCAT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgtcgaacatcatAGATCGAGACCCGACGC chr9:97996601-Reference-G;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Reference G attcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CTCACACGATGC CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAActcacacgatgcAGATCGAGACCCGACGC chr9:97996601-Reference-G;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative T attcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc ACGCGGATGCAT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAacgcggatgcatAGATCGAGACCCGACGC chr9:97996601-Alternative-T;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative T attcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc ATAACTCGCGGT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAataactcgcggtAGATCGAGACCCGACGC chr9:97996601-Alternative-T;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Reference G attcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CGAGTTGGTATT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAcgagttggtattAGATCGAGACCCGACGC chr9:97996601-Reference-G;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Reference G attcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc ATACTTACGACG CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccGtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAatacttacgacgAGATCGAGACCCGACGC chr9:97996601-Reference-G;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative T attcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc AATGAGTTCCGT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAaatgagttccgtAGATCGAGACCCGACGC chr9:97996601-Alternative-T;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Variant A attcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc ACGAGCATAACA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAacgagcataacaAGATCGAGACCCGACGC chr9:97996601-Variant-A;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative T attcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CTTAGCCAATGT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccTtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAActtagccaatgtAGATCGAGACCCGACGC chr9:97996601-Alternative-T;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Variant A attcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CTCGTGCGTCTA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAActcgtgcgtctaAGATCGAGACCCGACGC chr9:97996601-Variant-A;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Variant A attcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GCGCATTCGGAA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgcgcattcggaaAGATCGAGACCCGACGC chr9:97996601-Variant-A;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Variant A attcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GTCGTCCTATCA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgtcgtcctatcaAGATCGAGACCCGACGC chr9:97996601-Variant-A;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Variant A attcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc CACTTATCGAGA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccAtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAcacttatcgagaAGATCGAGACCCGACGC chr9:97996601-Variant-A;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative C attcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GCAGCGGTGAAT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgcagcggtgaatAGATCGAGACCCGACGC chr9:97996601-Alternative-C;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative C attcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GACCGCGTAACA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgaccgcgtaacaAGATCGAGACCCGACGC chr9:97996601-Alternative-C;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative C attcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc ATTCCTGCACCA CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAattcctgcaccaAGATCGAGACCCGACGC chr9:97996601-Alternative-C;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative C attcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GTCGTCAACGAC CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgtcgtcaacgacAGATCGAGACCCGACGC chr9:97996601-Alternative-C;Patient-84 chr9:97996601-GA DeNovo Patient-84 intronic FANCC 3.2e-05 0.000126 0.75 11.47 -0.27 FANCC 83389 Alternative C attcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaacc GACGACTAAGAT CGACGCGGTCTCTCTCTattcatttatgcatatcatatattcattaatttattcaaaaatttatgccCtgccaggtactgttcaatttgctaatagtaaacaaaactgagaaaaaccAGAGGGAGACGGACGTCTCAATAAgacgactaagatAGATCGAGACCCGACGC chr9:97996601-Alternative-C;Patient-84 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Variant C cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CGTCTAGCGGAA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcgtctagcggaaAGATCGAGACCCGACGC chr9:98066956-Variant-C;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Variant C cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GCGAATCAATCA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgcgaatcaatcaAGATCGAGACCCGACGC chr9:98066956-Variant-C;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Reference T cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc ACTCTTGGTAGA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAactcttggtagaAGATCGAGACCCGACGC chr9:98066956-Reference-T;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Reference T cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GGTTGAGGCCTA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAggttgaggcctaAGATCGAGACCCGACGC chr9:98066956-Reference-T;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative A cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CATGAAGTGCTA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcatgaagtgctaAGATCGAGACCCGACGC chr9:98066956-Alternative-A;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Variant C cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CGGACGTTCAGA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcggacgttcagaAGATCGAGACCCGACGC chr9:98066956-Variant-C;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Reference T cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GACTACGTGTCG CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgactacgtgtcgAGATCGAGACCCGACGC chr9:98066956-Reference-T;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Reference T cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CGACTTCCGACT CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcgacttccgactAGATCGAGACCCGACGC chr9:98066956-Reference-T;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative G cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CACAGCGGAATC CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcacagcggaatcAGATCGAGACCCGACGC chr9:98066956-Alternative-G;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative G cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GCCAGAGGTAGT CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgccagaggtagtAGATCGAGACCCGACGC chr9:98066956-Alternative-G;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative G cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GCCACCGAGATA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgccaccgagataAGATCGAGACCCGACGC chr9:98066956-Alternative-G;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Variant C cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GCGGTAGTACGT CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgcggtagtacgtAGATCGAGACCCGACGC chr9:98066956-Variant-C;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative G cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc CAACATCGACCA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAcaacatcgaccaAGATCGAGACCCGACGC chr9:98066956-Alternative-G;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Reference T cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc AGTAAGTACGGT CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccTgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAagtaagtacggtAGATCGAGACCCGACGC chr9:98066956-Reference-T;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative A cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GTATCCAACTTC CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgtatccaacttcAGATCGAGACCCGACGC chr9:98066956-Alternative-A;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative G cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc AGTTAATCGACC CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccGgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAagttaatcgaccAGATCGAGACCCGACGC chr9:98066956-Alternative-G;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative A cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc AGATCCATTGAG CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAagatccattgagAGATCGAGACCCGACGC chr9:98066956-Alternative-A;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative A cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GCGTATCTCGCA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgcgtatctcgcaAGATCGAGACCCGACGC chr9:98066956-Alternative-A;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Alternative A cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc GAATCGTCGGAC CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccAgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAgaatcgtcggacAGATCGAGACCCGACGC chr9:98066956-Alternative-A;Patient-61 chr9:98066956-TC DeNovo Patient-61 intronic FANCC NA 0.000100746 -0.22 0.62 -1.74 FANCC 13034 Variant C cctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagcc AATGTGCATCCA CGACGCGGTCTCTCTCTcctgtaatcccagctactttggaggctgagacacaagaatcccttgaaccCgggaggcggaggttgcagtgagccaagatcgtgccactgtactgcagccAGAGGGAGACGGACGTCTCAATAAaatgtgcatccaAGATCGAGACCCGACGC chr9:98066956-Variant-C;Patient-61 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative T ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CGGAATCGTCCA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAcggaatcgtccaAGATCGAGACCCGACGC chr9:98277237-Alternative-T;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative T ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GCAAGCGTTCCT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgcaagcgttcctAGATCGAGACCCGACGC chr9:98277237-Alternative-T;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative A ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg AATAGTCCGGCG CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAaatagtccggcgAGATCGAGACCCGACGC chr9:98277237-Alternative-A;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Variant C ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg ATTCCAAGCGCA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAattccaagcgcaAGATCGAGACCCGACGC chr9:98277237-Variant-C;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Reference G ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GAATCGCGTACG CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgaatcgcgtacgAGATCGAGACCCGACGC chr9:98277237-Reference-G;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative T ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GATTCAACGAAG CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgattcaacgaagAGATCGAGACCCGACGC chr9:98277237-Alternative-T;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Reference G ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg ACGCGTACGCAT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAacgcgtacgcatAGATCGAGACCCGACGC chr9:98277237-Reference-G;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative T ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg AACGCATCTTGT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAaacgcatcttgtAGATCGAGACCCGACGC chr9:98277237-Alternative-T;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Variant C ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CGGTGTTAGATA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAcggtgttagataAGATCGAGACCCGACGC chr9:98277237-Variant-C;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative T ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GTCGGACCTCAA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgTactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgtcggacctcaaAGATCGAGACCCGACGC chr9:98277237-Alternative-T;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative A ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CATCAGATCCAT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAcatcagatccatAGATCGAGACCCGACGC chr9:98277237-Alternative-A;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Reference G ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GGTTCCGTGTTC CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAggttccgtgttcAGATCGAGACCCGACGC chr9:98277237-Reference-G;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative A ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CATTCAGCGTAT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAcattcagcgtatAGATCGAGACCCGACGC chr9:98277237-Alternative-A;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Reference G ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GAGTGCTCATGT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgagtgctcatgtAGATCGAGACCCGACGC chr9:98277237-Reference-G;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative A ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GTCATGGACGCT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgtcatggacgctAGATCGAGACCCGACGC chr9:98277237-Alternative-A;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Reference G ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CTGAACAACCGG CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgGactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAActgaacaaccggAGATCGAGACCCGACGC chr9:98277237-Reference-G;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Variant C ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg CGAATCACCATA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAcgaatcaccataAGATCGAGACCCGACGC chr9:98277237-Variant-C;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Alternative A ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GTACCGCCGTTA CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgAactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgtaccgccgttaAGATCGAGACCCGACGC chr9:98277237-Alternative-A;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Variant C ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg GTAGCTCTTAAG CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAgtagctcttaagAGATCGAGACCCGACGC chr9:98277237-Variant-C;Patient-64 chr9:98277237-GC DeNovo Patient-64 intronic PTCH1 NA 4.95e-05 0.89 12.55 0.62 PTCH1 2009 Variant C ggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactgg AGCGGTTAATGT CGACGCGGTCTCTCTCTggcctattgatgtctaccttgattcaacattttaattgaaacagatcatgCactcaaaggcattttatagccttgtggaaggaagctgggtgacaactggAGAGGGAGACGGACGTCTCAATAAagcggttaatgtAGATCGAGACCCGACGC chr9:98277237-Variant-C;Patient-64 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative C aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CACAGCGCTGAT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcacagcgctgatAGATCGAGACCCGACGC chr9:98357626-Alternative-C;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative T aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GCGGTGTTACAC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgcggtgttacacAGATCGAGACCCGACGC chr9:98357626-Alternative-T;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Reference G aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CAGATGGCTAAT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcagatggctaatAGATCGAGACCCGACGC chr9:98357626-Reference-G;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Variant A aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GACGAATTGCGT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgacgaattgcgtAGATCGAGACCCGACGC chr9:98357626-Variant-A;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative T aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CGGTGCGATGTT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcggtgcgatgttAGATCGAGACCCGACGC chr9:98357626-Alternative-T;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative C aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CTTGGATTCGTT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAActtggattcgttAGATCGAGACCCGACGC chr9:98357626-Alternative-C;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Variant A aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GCGGATAACGGT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgcggataacggtAGATCGAGACCCGACGC chr9:98357626-Variant-A;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Reference G aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GGTCTGTAACGC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAggtctgtaacgcAGATCGAGACCCGACGC chr9:98357626-Reference-G;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Variant A aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CAAGGTGTTCAC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcaaggtgttcacAGATCGAGACCCGACGC chr9:98357626-Variant-A;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Reference G aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GGTCTGGCACTA CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAggtctggcactaAGATCGAGACCCGACGC chr9:98357626-Reference-G;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Variant A aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GGTTCGGTCTGA CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAggttcggtctgaAGATCGAGACCCGACGC chr9:98357626-Variant-A;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Variant A aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CACGTTATAGGT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgAcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcacgttataggtAGATCGAGACCCGACGC chr9:98357626-Variant-A;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative T aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa ACTCTTGCGGAC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAactcttgcggacAGATCGAGACCCGACGC chr9:98357626-Alternative-T;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative T aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa ATCGTGATAGCG CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAatcgtgatagcgAGATCGAGACCCGACGC chr9:98357626-Alternative-T;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative C aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GATCGTAACGAC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgatcgtaacgacAGATCGAGACCCGACGC chr9:98357626-Alternative-C;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Reference G aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa CAGTTGAGTACT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAcagttgagtactAGATCGAGACCCGACGC chr9:98357626-Reference-G;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative T aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GCATCCGTGCTA CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgTcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgcatccgtgctaAGATCGAGACCCGACGC chr9:98357626-Alternative-T;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Reference G aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa ACCATGCGGAGT CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgGcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAaccatgcggagtAGATCGAGACCCGACGC chr9:98357626-Reference-G;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative C aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa ACCGATTCGGAG CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAaccgattcggagAGATCGAGACCCGACGC chr9:98357626-Alternative-C;Patient-111 chr9:98357626-GA Inherited Patient-111 intergenic 0.000765 0.002369668 0.03 3.08 1.13 PTCH1 78378 Alternative C aagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaa GCGAAGTACCAC CGACGCGGTCTCTCTCTaagtcagcttgtacacactgcagttgtaaggccctggggttgtgggtgtgCcacccatcatttctccttggttgccaatattttaaaaaataggacaaaaAGAGGGAGACGGACGTCTCAATAAgcgaagtaccacAGATCGAGACCCGACGC chr9:98357626-Alternative-C;Patient-111 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative G cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GGTGGTAGGAGA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAggtggtaggagaAGATCGAGACCCGACGC chr9:99105366-Alternative-G;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative G cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CTAGCGAGCTGT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAActagcgagctgtAGATCGAGACCCGACGC chr9:99105366-Alternative-G;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative G cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GACGGAGTTCCT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgacggagttcctAGATCGAGACCCGACGC chr9:99105366-Alternative-G;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative G cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GCAGGTACTGCT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgcaggtactgctAGATCGAGACCCGACGC chr9:99105366-Alternative-G;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative A cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CTAGTCAGCTAA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAActagtcagctaaAGATCGAGACCCGACGC chr9:99105366-Alternative-A;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative A cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GTGGCTAGTTCG CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgtggctagttcgAGATCGAGACCCGACGC chr9:99105366-Alternative-A;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Reference C cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa AATACGCCGGAC CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAaatacgccggacAGATCGAGACCCGACGC chr9:99105366-Reference-C;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative A cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CTGCGTATAAGG CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAActgcgtataaggAGATCGAGACCCGACGC chr9:99105366-Alternative-A;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Variant T cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CTAGACGGTGAA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAActagacggtgaaAGATCGAGACCCGACGC chr9:99105366-Variant-T;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Reference C cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CTAGTTGTTGCT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAActagttgttgctAGATCGAGACCCGACGC chr9:99105366-Reference-C;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Variant T cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa AATGCGCAGCGT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAaatgcgcagcgtAGATCGAGACCCGACGC chr9:99105366-Variant-T;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative A cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa CAACTCGGAACA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAcaactcggaacaAGATCGAGACCCGACGC chr9:99105366-Alternative-A;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Reference C cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa AGCCGATCACGA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAagccgatcacgaAGATCGAGACCCGACGC chr9:99105366-Reference-C;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Reference C cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa ATTACTCGCGTT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAattactcgcgttAGATCGAGACCCGACGC chr9:99105366-Reference-C;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Variant T cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GATCAAGCCGGT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgatcaagccggtAGATCGAGACCCGACGC chr9:99105366-Variant-T;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative G cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa ACTAGGTCTTCT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaGacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAactaggtcttctAGATCGAGACCCGACGC chr9:99105366-Alternative-G;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Variant T cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GCGGTAGTAATT CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgcggtagtaattAGATCGAGACCCGACGC chr9:99105366-Variant-T;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Variant T cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa ACGTAGTGTGAA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaTacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAacgtagtgtgaaAGATCGAGACCCGACGC chr9:99105366-Variant-T;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Reference C cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GTCGCTAGGTAC CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaCacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgtcgctaggtacAGATCGAGACCCGACGC chr9:99105366-Reference-C;Patient-49 chr9:99105366-CT Inherited Patient-49 intronic SLC35D2 NA 4.95e-05 -0.07 1.72 -0.35 SLC35D2 40625 Alternative A cccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaa GCGCAATCTGCA CGACGCGGTCTCTCTCTcccgctgaggagggttttgcccatcgcatctcgtttctcacagtcacttaAacatcagcaaagttctcagaggctgtgtggcccgcgacttcctgaagaaAGAGGGAGACGGACGTCTCAATAAgcgcaatctgcaAGATCGAGACCCGACGC chr9:99105366-Alternative-A;Patient-49 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Variant A tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GCGTTCCGGTAT CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAgcgttccggtatAGATCGAGACCCGACGC chr9:99784657-Variant-A;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Variant A tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CTCTACGCTGCA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAActctacgctgcaAGATCGAGACCCGACGC chr9:99784657-Variant-A;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Variant A tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GATACTCATGGT CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAgatactcatggtAGATCGAGACCCGACGC chr9:99784657-Variant-A;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Variant A tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CGATTAACCACA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAcgattaaccacaAGATCGAGACCCGACGC chr9:99784657-Variant-A;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Reference T tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ACGTCAACAACC CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAacgtcaacaaccAGATCGAGACCCGACGC chr9:99784657-Reference-T;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Reference T tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ATCTCAGCGGAG CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAatctcagcggagAGATCGAGACCCGACGC chr9:99784657-Reference-T;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Reference T tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GGCTAATACGAT CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAggctaatacgatAGATCGAGACCCGACGC chr9:99784657-Reference-T;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Reference T tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CTTGTTATTCGC CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAActtgttattcgcAGATCGAGACCCGACGC chr9:99784657-Reference-T;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Reference T tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct AAGTGTCTAACC CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttTcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAaagtgtctaaccAGATCGAGACCCGACGC chr9:99784657-Reference-T;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative G tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ACAGAGGCGATA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAacagaggcgataAGATCGAGACCCGACGC chr9:99784657-Alternative-G;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative G tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ACGTAACGAGAA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAacgtaacgagaaAGATCGAGACCCGACGC chr9:99784657-Alternative-G;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative G tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GTGTTCCTATAC CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAgtgttcctatacAGATCGAGACCCGACGC chr9:99784657-Alternative-G;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative G tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CTTGGTCGCCTT CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAActtggtcgccttAGATCGAGACCCGACGC chr9:99784657-Alternative-G;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative G tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CTAACTAGTCGA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttGcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAActaactagtcgaAGATCGAGACCCGACGC chr9:99784657-Alternative-G;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative C tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ATAGGCTGATGA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAataggctgatgaAGATCGAGACCCGACGC chr9:99784657-Alternative-C;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative C tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GCGTCTAGTACC CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAgcgtctagtaccAGATCGAGACCCGACGC chr9:99784657-Alternative-C;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Variant A tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct CGTTATCGACAG CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttAcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAcgttatcgacagAGATCGAGACCCGACGC chr9:99784657-Variant-A;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative C tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct AGGAACCTGAGA CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAaggaacctgagaAGATCGAGACCCGACGC chr9:99784657-Alternative-C;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative C tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct ATTACCATGGCG CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAattaccatggcgAGATCGAGACCCGACGC chr9:99784657-Alternative-C;Patient-30 chr9:99784657-TA Inherited Patient-30 intergenic 0.000167 0.000513 NA NA NA CTSV 17267 Alternative C tagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctct GATGGTTGAGAT CGACGCGGTCTCTCTCTtagcttttagatgaccaatttccaggccctcgtcctaggtgtgtactcttCcctacagctaacctgctccctgaagtgtctctgttttgcaagttcctctAGAGGGAGACGGACGTCTCAATAAgatggttgagatAGATCGAGACCCGACGC chr9:99784657-Alternative-C;Patient-30 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Reference T gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatca CGCATCAGAGAA CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAcgcatcagagaaAGATCGAGACCCGACGC chrX:100131747-Reference-T;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Reference T gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatca GAGCTCAGTTCG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAgagctcagttcgAGATCGAGACCCGACGC chrX:100131747-Reference-T;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Reference T gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatca CTAGTAGGACGC CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAActagtaggacgcAGATCGAGACCCGACGC chrX:100131747-Reference-T;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Reference T gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatca GCGTGATCATTA CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAgcgtgatcattaAGATCGAGACCCGACGC chrX:100131747-Reference-T;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative A gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatca GGTGTCACCGAT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAggtgtcaccgatAGATCGAGACCCGACGC chrX:100131747-Alternative-A;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Reference T gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatca GGATATACTGCT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgTtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAggatatactgctAGATCGAGACCCGACGC chrX:100131747-Reference-T;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative C gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatca AGCTCACTCAGT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAagctcactcagtAGATCGAGACCCGACGC chrX:100131747-Alternative-C;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative A gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatca GGTGGACTCGTT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAggtggactcgttAGATCGAGACCCGACGC chrX:100131747-Alternative-A;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative A gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatca ATCGACCGAACG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAatcgaccgaacgAGATCGAGACCCGACGC chrX:100131747-Alternative-A;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative C gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatca GCACCTCTTAGG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAgcacctcttaggAGATCGAGACCCGACGC chrX:100131747-Alternative-C;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative A gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatca AGGCGACTACAC CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAaggcgactacacAGATCGAGACCCGACGC chrX:100131747-Alternative-A;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Variant G gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatca AGCGTGCTACGT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAagcgtgctacgtAGATCGAGACCCGACGC chrX:100131747-Variant-G;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Variant G gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatca ATTCGCTGCGAG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAattcgctgcgagAGATCGAGACCCGACGC chrX:100131747-Variant-G;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative C gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatca GACCGAAGATTA CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAgaccgaagattaAGATCGAGACCCGACGC chrX:100131747-Alternative-C;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative C gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatca GGATCACATCAT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAggatcacatcatAGATCGAGACCCGACGC chrX:100131747-Alternative-C;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Variant G gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatca AGCTGTAGTCAT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAagctgtagtcatAGATCGAGACCCGACGC chrX:100131747-Variant-G;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative A gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatca AACGTTGGAGCG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgAtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAaacgttggagcgAGATCGAGACCCGACGC chrX:100131747-Alternative-A;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Alternative C gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatca GTCCGGAAGGAT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgCtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAgtccggaaggatAGATCGAGACCCGACGC chrX:100131747-Alternative-C;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Variant G gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatca ACTTCGTGGACG CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAacttcgtggacgAGATCGAGACCCGACGC chrX:100131747-Variant-G;Patient-6 chrX:100131747-TG DeNovo Patient-6 intergenic NA 0.000513 0.21 6.04 0.15 NOX1 2412 Variant G gactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatca ACGTTCTTCAGT CGACGCGGTCTCTCTCTgactttttgtttgtttgtttctttgttttggggggagggggggttctgtgGtttgtttttattcttggcctttttcattttcatgtaaattttataatcaAGAGGGAGACGGACGTCTCAATAAacgttcttcagtAGATCGAGACCCGACGC chrX:100131747-Variant-G;Patient-6 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Variant T gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa ATCTTAGGCCGC CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAatcttaggccgcAGATCGAGACCCGACGC chrX:107013888-Variant-T;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative G gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CAGGTATGTGGT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcaggtatgtggtAGATCGAGACCCGACGC chrX:107013888-Alternative-G;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Variant T gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GTTGGCGAACGT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAgttggcgaacgtAGATCGAGACCCGACGC chrX:107013888-Variant-T;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative A gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CGTCGTAGACGT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcgtcgtagacgtAGATCGAGACCCGACGC chrX:107013888-Alternative-A;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Variant T gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GGAGATGTTACG CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAggagatgttacgAGATCGAGACCCGACGC chrX:107013888-Variant-T;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Variant T gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa AAGACGAAGACA CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAaagacgaagacaAGATCGAGACCCGACGC chrX:107013888-Variant-T;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative G gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CGATATAGCAGA CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcgatatagcagaAGATCGAGACCCGACGC chrX:107013888-Alternative-G;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative G gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa ATCGGCTTAGTT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAatcggcttagttAGATCGAGACCCGACGC chrX:107013888-Alternative-G;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative G gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa ATCAACCTAGTC CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAatcaacctagtcAGATCGAGACCCGACGC chrX:107013888-Alternative-G;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative A gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GAGTACAAGGAC CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAgagtacaaggacAGATCGAGACCCGACGC chrX:107013888-Alternative-A;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative G gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GTGTAGTTGACT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaGgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAgtgtagttgactAGATCGAGACCCGACGC chrX:107013888-Alternative-G;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative A gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CATTCTGGTGAA CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcattctggtgaaAGATCGAGACCCGACGC chrX:107013888-Alternative-A;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Reference C gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GGTTCTAGCAGA CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAggttctagcagaAGATCGAGACCCGACGC chrX:107013888-Reference-C;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Reference C gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa ATATTAGTCCGG CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAatattagtccggAGATCGAGACCCGACGC chrX:107013888-Reference-C;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Reference C gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CTGAGGCGTATC CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAActgaggcgtatcAGATCGAGACCCGACGC chrX:107013888-Reference-C;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Reference C gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CGCTCAATTGGT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcgctcaattggtAGATCGAGACCCGACGC chrX:107013888-Reference-C;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative A gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GCATAACGTGGT CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAgcataacgtggtAGATCGAGACCCGACGC chrX:107013888-Alternative-A;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Reference C gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa GATTATGGTAGG CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaCgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAgattatggtaggAGATCGAGACCCGACGC chrX:107013888-Reference-C;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Variant T gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa ACTCTAACGGCG CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaTgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAactctaacggcgAGATCGAGACCCGACGC chrX:107013888-Variant-T;Patient-109 chrX:107013888-CT DeNovo Patient-109 intronic TSC22D3 NA 3.84e-05 -0.09 1.53 -0.59 TSC22D3 5128 Alternative A gctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaa CATGTCATCTAC CGACGCGGTCTCTCTCTgctggaagggaaatcggattcagagtatttcagaccacactagccaggtaAgctctggggtcaaaggtagaatagagctgattaagaggttttgggtaaaAGAGGGAGACGGACGTCTCAATAAcatgtcatctacAGATCGAGACCCGACGC chrX:107013888-Alternative-A;Patient-109 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Variant C tatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatata CAACCGGCAATT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcaaccggcaattAGATCGAGACCCGACGC chrX:107677955-Variant-C;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative A tatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatata CTGGTTAGCAGA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAActggttagcagaAGATCGAGACCCGACGC chrX:107677955-Alternative-A;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative A tatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatata AGCACGAACGTC CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAagcacgaacgtcAGATCGAGACCCGACGC chrX:107677955-Alternative-A;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Variant C tatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatata GTGTTCGCTAAC CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAgtgttcgctaacAGATCGAGACCCGACGC chrX:107677955-Variant-C;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Variant C tatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatata AGGTTGTTATCG CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAaggttgttatcgAGATCGAGACCCGACGC chrX:107677955-Variant-C;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative A tatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatata ATAAGGTACACG CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAataaggtacacgAGATCGAGACCCGACGC chrX:107677955-Alternative-A;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Variant C tatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatata CGGAAGCTTGAC CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcggaagcttgacAGATCGAGACCCGACGC chrX:107677955-Variant-C;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative A tatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatata GCGATTGCTGCA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAgcgattgctgcaAGATCGAGACCCGACGC chrX:107677955-Alternative-A;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative G tatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatata CGTGCTGACTGA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcgtgctgactgaAGATCGAGACCCGACGC chrX:107677955-Alternative-G;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative G tatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatata AATCGGCGCGAA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAaatcggcgcgaaAGATCGAGACCCGACGC chrX:107677955-Alternative-G;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Variant C tatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatata AACGACGCATAA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagCgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAaacgacgcataaAGATCGAGACCCGACGC chrX:107677955-Variant-C;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative G tatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatata ACGGCGGTATGT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAacggcggtatgtAGATCGAGACCCGACGC chrX:107677955-Alternative-G;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative G tatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatata CGTTACGAGTCG CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcgttacgagtcgAGATCGAGACCCGACGC chrX:107677955-Alternative-G;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Reference T tatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatata GACCTACTCCGT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAgacctactccgtAGATCGAGACCCGACGC chrX:107677955-Reference-T;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative A tatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatata AGCAGCTTATGT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagAgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAagcagcttatgtAGATCGAGACCCGACGC chrX:107677955-Alternative-A;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Reference T tatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatata CATCAACCGATT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcatcaaccgattAGATCGAGACCCGACGC chrX:107677955-Reference-T;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Reference T tatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatata GACATAGTAACG CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAgacatagtaacgAGATCGAGACCCGACGC chrX:107677955-Reference-T;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Alternative G tatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatata ATACTTGCTCGT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagGgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAatacttgctcgtAGATCGAGACCCGACGC chrX:107677955-Alternative-G;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Reference T tatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatata CAGTAAGCCAGA CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcagtaagccagaAGATCGAGACCCGACGC chrX:107677955-Reference-T;Patient-39 chrX:107677955-TC DeNovo Patient-39 intronic COL4A6 NA 4.95e-05 -0.39 0.19 -5.07 COL4A6 4748 Reference T tatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatata CGGATTGATGTT CGACGCGGTCTCTCTCTtatcatctatggattatctatttacagtcatttgatgatttacttaatagTgtactcatacatttctatcagtatccttagtcatcccaagatatatataAGAGGGAGACGGACGTCTCAATAAcggattgatgttAGATCGAGACCCGACGC chrX:107677955-Reference-T;Patient-39 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Reference G tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CTAAGCTGTGAT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAActaagctgtgatAGATCGAGACCCGACGC chrX:108701252-Reference-G;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Reference G tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CGGATTAACCTA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAcggattaacctaAGATCGAGACCCGACGC chrX:108701252-Reference-G;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Reference G tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctcc GATAGCGGTACT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAgatagcggtactAGATCGAGACCCGACGC chrX:108701252-Reference-G;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Reference G tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CGACGTTAACGA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAcgacgttaacgaAGATCGAGACCCGACGC chrX:108701252-Reference-G;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Reference G tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CTCATCAATCGA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctGagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAActcatcaatcgaAGATCGAGACCCGACGC chrX:108701252-Reference-G;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative A tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctcc ACGCTCCACGTT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAacgctccacgttAGATCGAGACCCGACGC chrX:108701252-Alternative-A;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative A tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CTAGTCTAGACA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAActagtctagacaAGATCGAGACCCGACGC chrX:108701252-Alternative-A;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Variant C tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CAGATCAGTCGC CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAcagatcagtcgcAGATCGAGACCCGACGC chrX:108701252-Variant-C;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative A tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctcc GAATTGTGTCGA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAgaattgtgtcgaAGATCGAGACCCGACGC chrX:108701252-Alternative-A;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Variant C tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctcc GAGCTAGCGACT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAgagctagcgactAGATCGAGACCCGACGC chrX:108701252-Variant-C;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative T tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctcc AAGTCATACGTC CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAaagtcatacgtcAGATCGAGACCCGACGC chrX:108701252-Alternative-T;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative A tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctcc ACGTTGCCTAAC CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAacgttgcctaacAGATCGAGACCCGACGC chrX:108701252-Alternative-A;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative T tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CGTCTTGTGGAG CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAcgtcttgtggagAGATCGAGACCCGACGC chrX:108701252-Alternative-T;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative T tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctcc AGCAGCAACTAA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAagcagcaactaaAGATCGAGACCCGACGC chrX:108701252-Alternative-T;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative A tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctcc AGCTTCCGTGCT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctAagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAagcttccgtgctAGATCGAGACCCGACGC chrX:108701252-Alternative-A;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Variant C tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctcc GAGTTGGTTATC CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAgagttggttatcAGATCGAGACCCGACGC chrX:108701252-Variant-C;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Variant C tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CTCACGTCCAAT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAActcacgtccaatAGATCGAGACCCGACGC chrX:108701252-Variant-C;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative T tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctcc AACTTGCGGTTA CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAaacttgcggttaAGATCGAGACCCGACGC chrX:108701252-Alternative-T;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Alternative T tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctcc CATTCGTCTAGT CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctTagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAcattcgtctagtAGATCGAGACCCGACGC chrX:108701252-Alternative-T;Patient-89 chrX:108701252-GC Inherited Patient-89 intronic GUCY2F NA 4.95e-05 0.74 11.37 1.47 GUCY2F 24032 Variant C tttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctcc AGAGTCAACTTC CGACGCGGTCTCTCTCTtttggccaaaatataaaggtacaaagttataatccttgcccaatcatcctCagactaaattaagaagttcatcactggtgtccccacccctcagatctccAGAGGGAGACGGACGTCTCAATAAagagtcaacttcAGATCGAGACCCGACGC chrX:108701252-Variant-C;Patient-89 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative G agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGCGATATACCA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcgcgatataccaAGATCGAGACCCGACGC chrX:11665437-Alternative-G;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative G agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATAGATACGCAG CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAatagatacgcagAGATCGAGACCCGACGC chrX:11665437-Alternative-G;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative G agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGAGCTACCTAC CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcgagctacctacAGATCGAGACCCGACGC chrX:11665437-Alternative-G;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Variant C agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AAGGTAGGTAGA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAaaggtaggtagaAGATCGAGACCCGACGC chrX:11665437-Variant-C;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Variant C agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATTCACGCGCAC CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAattcacgcgcacAGATCGAGACCCGACGC chrX:11665437-Variant-C;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative G agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AGCGCAATGCGT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAagcgcaatgcgtAGATCGAGACCCGACGC chrX:11665437-Alternative-G;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Variant C agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AGGCGAGTTAAT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAaggcgagttaatAGATCGAGACCCGACGC chrX:11665437-Variant-C;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Variant C agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga GACCGTTGTCCT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAgaccgttgtcctAGATCGAGACCCGACGC chrX:11665437-Variant-C;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative G agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATATGTCCGTCT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgGactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAatatgtccgtctAGATCGAGACCCGACGC chrX:11665437-Alternative-G;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Reference T agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AATAAGTGACCG CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAaataagtgaccgAGATCGAGACCCGACGC chrX:11665437-Reference-T;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Variant C agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATCTTGTCCGAA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgCactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAatcttgtccgaaAGATCGAGACCCGACGC chrX:11665437-Variant-C;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Reference T agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGGTAGTTCCGA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcggtagttccgaAGATCGAGACCCGACGC chrX:11665437-Reference-T;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Reference T agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGCGTGTATGGT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcgcgtgtatggtAGATCGAGACCCGACGC chrX:11665437-Reference-T;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative A agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATTGCGGCACGA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAattgcggcacgaAGATCGAGACCCGACGC chrX:11665437-Alternative-A;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Reference T agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGAAGGATCGAC CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcgaaggatcgacAGATCGAGACCCGACGC chrX:11665437-Reference-T;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Reference T agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga CGCAACAATGAA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgTactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAcgcaacaatgaaAGATCGAGACCCGACGC chrX:11665437-Reference-T;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative A agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga GCAGCAACTAAT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAgcagcaactaatAGATCGAGACCCGACGC chrX:11665437-Alternative-A;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative A agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AAGTCATGTCGT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAaagtcatgtcgtAGATCGAGACCCGACGC chrX:11665437-Alternative-A;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative A agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga ATCGCGGATCGA CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAatcgcggatcgaAGATCGAGACCCGACGC chrX:11665437-Alternative-A;Patient-60 chrX:11665437-TC DeNovo Patient-60 intronic ARHGAP6 NA 4.95e-05 NA NA NA ARHGAP6 18383 Alternative A agtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaagga AGTCAACGCATT CGACGCGGTCTCTCTCTagtaagcaaccaatgagcacagaagaatgctgctgatgtaaatgaatatgAactcaaagcttagctcttcctcccccttctgacaggggaatgacaaggaAGAGGGAGACGGACGTCTCAATAAagtcaacgcattAGATCGAGACCCGACGC chrX:11665437-Alternative-A;Patient-60 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative G gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GCGTGTTCTAGG CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgcgtgttctaggAGATCGAGACCCGACGC chrX:119483110-Alternative-G;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Reference T gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GCAGACGTTCAC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgcagacgttcacAGATCGAGACCCGACGC chrX:119483110-Reference-T;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Reference T gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac AATGGTTGACGC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAaatggttgacgcAGATCGAGACCCGACGC chrX:119483110-Reference-T;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative G gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GTTGTACCGCCT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgttgtaccgcctAGATCGAGACCCGACGC chrX:119483110-Alternative-G;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative G gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac ACGACACTCGGT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAacgacactcggtAGATCGAGACCCGACGC chrX:119483110-Alternative-G;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative G gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac CATGTTGCTCAT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAcatgttgctcatAGATCGAGACCCGACGC chrX:119483110-Alternative-G;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Reference T gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GCAAGAGCACGA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgcaagagcacgaAGATCGAGACCCGACGC chrX:119483110-Reference-T;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative G gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac CGCATGTATCGC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaGtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAcgcatgtatcgcAGATCGAGACCCGACGC chrX:119483110-Alternative-G;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Reference T gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GAGGTGCGTCAA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgaggtgcgtcaaAGATCGAGACCCGACGC chrX:119483110-Reference-T;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Reference T gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac ATTGTCCGTCAT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaTtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAattgtccgtcatAGATCGAGACCCGACGC chrX:119483110-Reference-T;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative A gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GACCGTCTGAGA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgaccgtctgagaAGATCGAGACCCGACGC chrX:119483110-Alternative-A;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Variant C gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac ATATGACTCGAC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAatatgactcgacAGATCGAGACCCGACGC chrX:119483110-Variant-C;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Variant C gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac CTCGTCAACGAG CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAActcgtcaacgagAGATCGAGACCCGACGC chrX:119483110-Variant-C;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative A gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac AATGATCAGGAC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAaatgatcaggacAGATCGAGACCCGACGC chrX:119483110-Alternative-A;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Variant C gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GCACGACTGCAT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAgcacgactgcatAGATCGAGACCCGACGC chrX:119483110-Variant-C;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Variant C gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac CTAGCGTGGTTA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAActagcgtggttaAGATCGAGACCCGACGC chrX:119483110-Variant-C;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative A gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac CAGGCGAGCTAA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAcaggcgagctaaAGATCGAGACCCGACGC chrX:119483110-Alternative-A;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative A gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac GGTTCCAGTCAA CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAggttccagtcaaAGATCGAGACCCGACGC chrX:119483110-Alternative-A;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Variant C gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac ACTTCACCATAC CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaCtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAacttcaccatacAGATCGAGACCCGACGC chrX:119483110-Variant-C;Patient-81 chrX:119483110-TC DeNovo Patient-81 intergenic 4.6e-05 0.00205 0.21 6.05 0.05 ATP1B4 12829 Alternative A gaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaac ATTCGAGGTAGT CGACGCGGTCTCTCTCTgaaactggatcccttccttacgccttatacaaaaattaattcaagatggaAtaaagacttaaatgttagacctaaaaccttaaaaaccctagaagaaaacAGAGGGAGACGGACGTCTCAATAAattcgaggtagtAGATCGAGACCCGACGC chrX:119483110-Alternative-A;Patient-81 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Reference G aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CTCAATGCGTCC CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAActcaatgcgtccAGATCGAGACCCGACGC chrX:122789905-Reference-G;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Reference G aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca AATCTGACGAAG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAaatctgacgaagAGATCGAGACCCGACGC chrX:122789905-Reference-G;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Reference G aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CTCATGATGCTT CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAActcatgatgcttAGATCGAGACCCGACGC chrX:122789905-Reference-G;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Reference G aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca GATAAGGAGTCA CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAgataaggagtcaAGATCGAGACCCGACGC chrX:122789905-Reference-G;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Variant T aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CAACCGTAGTAA CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAcaaccgtagtaaAGATCGAGACCCGACGC chrX:122789905-Variant-T;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative C aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ACGTACGACGAG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAacgtacgacgagAGATCGAGACCCGACGC chrX:122789905-Alternative-C;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Reference G aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca GGTTCGCCATGA CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtGgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAggttcgccatgaAGATCGAGACCCGACGC chrX:122789905-Reference-G;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Variant T aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CACACATCGCAG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAcacacatcgcagAGATCGAGACCCGACGC chrX:122789905-Variant-T;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Variant T aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CATTGAACGAAG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAcattgaacgaagAGATCGAGACCCGACGC chrX:122789905-Variant-T;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Variant T aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ACCTAACTGGCG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAacctaactggcgAGATCGAGACCCGACGC chrX:122789905-Variant-T;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative A aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ATTGGACCGTCG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAattggaccgtcgAGATCGAGACCCGACGC chrX:122789905-Alternative-A;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative C aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca GTGGCGCAAGAA CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAgtggcgcaagaaAGATCGAGACCCGACGC chrX:122789905-Alternative-C;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative A aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ACTTACGCTTGT CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAacttacgcttgtAGATCGAGACCCGACGC chrX:122789905-Alternative-A;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative C aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca GCAGTTATTGAC CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAgcagttattgacAGATCGAGACCCGACGC chrX:122789905-Alternative-C;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Variant T aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ACTAGAAGGTCG CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtTgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAactagaaggtcgAGATCGAGACCCGACGC chrX:122789905-Variant-T;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative C aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca ATCACGCTTCTT CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAatcacgcttcttAGATCGAGACCCGACGC chrX:122789905-Alternative-C;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative A aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca AATCAACACCGC CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAaatcaacaccgcAGATCGAGACCCGACGC chrX:122789905-Alternative-A;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative C aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CATAGTGCTAAC CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtCgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAcatagtgctaacAGATCGAGACCCGACGC chrX:122789905-Alternative-C;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative A aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca CGGTGGCTCTAT CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAcggtggctctatAGATCGAGACCCGACGC chrX:122789905-Alternative-A;Patient-101 chrX:122789905-GT DeNovo Patient-101 intronic THOC2 0.000102 4.95e-05 -0.12 1.23 0.35 THOC2 76998 Alternative A aagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatca GCACGTTCAATA CGACGCGGTCTCTCTCTaagactctgtctggggaaaaaaaaaagggaacttaatggccgggcgtggtAgctcatgcctgtaatcccagcactttgggaggccaaggtgggcagatcaAGAGGGAGACGGACGTCTCAATAAgcacgttcaataAGATCGAGACCCGACGC chrX:122789905-Alternative-A;Patient-101 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Reference C gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactcca GGCGGATTCTGT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAggcggattctgtAGATCGAGACCCGACGC chrX:128912444-Reference-C;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Reference C gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactcca GCGTGCTAGACA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgcgtgctagacaAGATCGAGACCCGACGC chrX:128912444-Reference-C;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative A gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactcca GTCTCGAATCGG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgtctcgaatcggAGATCGAGACCCGACGC chrX:128912444-Alternative-A;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Reference C gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactcca CGTGTCCGTCTA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAcgtgtccgtctaAGATCGAGACCCGACGC chrX:128912444-Reference-C;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative A gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactcca ACATAGCTGACG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAacatagctgacgAGATCGAGACCCGACGC chrX:128912444-Alternative-A;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Reference C gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactcca CGTATCAGGCCT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAcgtatcaggcctAGATCGAGACCCGACGC chrX:128912444-Reference-C;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Variant T gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactcca GCACGGTAGCTA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgcacggtagctaAGATCGAGACCCGACGC chrX:128912444-Variant-T;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative A gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactcca CAGCTTGGCACA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAcagcttggcacaAGATCGAGACCCGACGC chrX:128912444-Alternative-A;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Variant T gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactcca GATGCACACATT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgatgcacacattAGATCGAGACCCGACGC chrX:128912444-Variant-T;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Variant T gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactcca AGATATGACCGG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAagatatgaccggAGATCGAGACCCGACGC chrX:128912444-Variant-T;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative A gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactcca GATTAGCCGTCG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgattagccgtcgAGATCGAGACCCGACGC chrX:128912444-Alternative-A;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Reference C gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactcca CGCTGCGTGTTA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcCgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAcgctgcgtgttaAGATCGAGACCCGACGC chrX:128912444-Reference-C;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative A gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactcca AAGTACGCTAGT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcAgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAaagtacgctagtAGATCGAGACCCGACGC chrX:128912444-Alternative-A;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Variant T gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactcca AATAATGCGCCT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAaataatgcgcctAGATCGAGACCCGACGC chrX:128912444-Variant-T;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative G gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactcca GGTTGTCGTACG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAggttgtcgtacgAGATCGAGACCCGACGC chrX:128912444-Alternative-G;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative G gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactcca CATTGCCGCCTT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAcattgccgccttAGATCGAGACCCGACGC chrX:128912444-Alternative-G;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative G gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactcca GGTTGACGACGA CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAggttgacgacgaAGATCGAGACCCGACGC chrX:128912444-Alternative-G;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative G gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactcca GACAAGTAACAC CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAgacaagtaacacAGATCGAGACCCGACGC chrX:128912444-Alternative-G;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Variant T gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactcca AAGTCGTCTAGT CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcTgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAaagtcgtctagtAGATCGAGACCCGACGC chrX:128912444-Variant-T;Patient-85 chrX:128912444-CT Inherited Patient-85 intergenic 4.7e-05 0.000513 -0.04 2.03 0.35 ZDHHC9 65465 Alternative G gcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactcca AAGAATCGGCGG CGACGCGGTCTCTCTCTgcagaggcacaagaattgcttgaactcaggaggtggaggttgcagtgagcGgagatcacgccactgcactccagcctgggagacagagtgagagactccaAGAGGGAGACGGACGTCTCAATAAaagaatcggcggAGATCGAGACCCGACGC chrX:128912444-Alternative-G;Patient-85 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative T tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACACAACGCGAT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacacaacgcgatAGATCGAGACCCGACGC chrX:12965341-Alternative-T;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Variant A tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg AGACGACTGACG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAagacgactgacgAGATCGAGACCCGACGC chrX:12965341-Variant-A;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Variant A tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACGCCAACAGCA CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacgccaacagcaAGATCGAGACCCGACGC chrX:12965341-Variant-A;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Reference C tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg AGTTCACCGACC CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAagttcaccgaccAGATCGAGACCCGACGC chrX:12965341-Reference-C;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Variant A tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ATAGCACCTCAA CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAatagcacctcaaAGATCGAGACCCGACGC chrX:12965341-Variant-A;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Reference C tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg AATAGAGCAACC CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAaatagagcaaccAGATCGAGACCCGACGC chrX:12965341-Reference-C;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Reference C tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg AACAAGCATCAG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAaacaagcatcagAGATCGAGACCCGACGC chrX:12965341-Reference-C;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Reference C tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg CGATAAGTCAGT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAcgataagtcagtAGATCGAGACCCGACGC chrX:12965341-Reference-C;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative T tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg CGGATTAGTACT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAcggattagtactAGATCGAGACCCGACGC chrX:12965341-Alternative-T;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative T tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACTTGATCCTGT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacttgatcctgtAGATCGAGACCCGACGC chrX:12965341-Alternative-T;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Variant A tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg GCGAACACGACT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAgcgaacacgactAGATCGAGACCCGACGC chrX:12965341-Variant-A;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative T tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACTTCGACGTGG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacttcgacgtggAGATCGAGACCCGACGC chrX:12965341-Alternative-T;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative T tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACGTCTTCTTGA CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaTctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacgtcttcttgaAGATCGAGACCCGACGC chrX:12965341-Alternative-T;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Reference C tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ATAGACGGCATA CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaCctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAatagacggcataAGATCGAGACCCGACGC chrX:12965341-Reference-C;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Variant A tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg AGAGTTGTGCGG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaActaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAagagttgtgcggAGATCGAGACCCGACGC chrX:12965341-Variant-A;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative G tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACTCGGTTAACA CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAactcggttaacaAGATCGAGACCCGACGC chrX:12965341-Alternative-G;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative G tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg GGAGGTTCATGG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAggaggttcatggAGATCGAGACCCGACGC chrX:12965341-Alternative-G;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative G tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg GTCGCAACAAGG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAgtcgcaacaaggAGATCGAGACCCGACGC chrX:12965341-Alternative-G;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative G tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg ACTTACGTATGG CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAacttacgtatggAGATCGAGACCCGACGC chrX:12965341-Alternative-G;Patient-53 chrX:12965341-CA DeNovo Patient-53 intergenic NA 0.000513 -0.38 0.21 -3.76 TMSB4X 27884 Alternative G tctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgagg CGCTGAATAACT CGACGCGGTCTCTCTCTtctagtgtaaatcagagaatgggcctcataaaaggagcagtttggaggaaGctaatccttcacagtttgtctagcaatttctaggttcaatcaattgaggAGAGGGAGACGGACGTCTCAATAAcgctgaataactAGATCGAGACCCGACGC chrX:12965341-Alternative-G;Patient-53 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative C cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttattt CTTGAGTCATAC CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAActtgagtcatacAGATCGAGACCCGACGC chrX:131135425-Alternative-C;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative C cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttattt AAGAATCGAGGT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAaagaatcgaggtAGATCGAGACCCGACGC chrX:131135425-Alternative-C;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative C cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttattt CGGACAAGGTTC CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAcggacaaggttcAGATCGAGACCCGACGC chrX:131135425-Alternative-C;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Variant G cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttattt CTGAGTAGCGTC CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAActgagtagcgtcAGATCGAGACCCGACGC chrX:131135425-Variant-G;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative C cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttattt GACGACGCGATA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAgacgacgcgataAGATCGAGACCCGACGC chrX:131135425-Alternative-C;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Variant G cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttattt GGAGAATGGCAT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAggagaatggcatAGATCGAGACCCGACGC chrX:131135425-Variant-G;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Variant G cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttattt GCGAATTAACGT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAgcgaattaacgtAGATCGAGACCCGACGC chrX:131135425-Variant-G;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative T cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttattt GGACGACGTAGT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAggacgacgtagtAGATCGAGACCCGACGC chrX:131135425-Alternative-T;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Variant G cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttattt AGCGGAGTGTGA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAagcggagtgtgaAGATCGAGACCCGACGC chrX:131135425-Variant-G;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Reference A cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttattt GCGTGCGTAACA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAgcgtgcgtaacaAGATCGAGACCCGACGC chrX:131135425-Reference-A;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative T cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ACAGATGCGGAT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAacagatgcggatAGATCGAGACCCGACGC chrX:131135425-Alternative-T;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Variant G cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttattt CACGCAAGTACA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcGggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAcacgcaagtacaAGATCGAGACCCGACGC chrX:131135425-Variant-G;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative T cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttattt AGCTAATCAACC CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAagctaatcaaccAGATCGAGACCCGACGC chrX:131135425-Alternative-T;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Reference A cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ACACATTGACGT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAacacattgacgtAGATCGAGACCCGACGC chrX:131135425-Reference-A;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative T cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ACGCGTGTACCT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAacgcgtgtacctAGATCGAGACCCGACGC chrX:131135425-Alternative-T;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Reference A cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttattt AGCGGCGTAAGA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAagcggcgtaagaAGATCGAGACCCGACGC chrX:131135425-Reference-A;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Reference A cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ACCGCTTACGTT CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAaccgcttacgttAGATCGAGACCCGACGC chrX:131135425-Reference-A;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative T cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ATCAAGACGCTA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcTggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAatcaagacgctaAGATCGAGACCCGACGC chrX:131135425-Alternative-T;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Reference A cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttattt ATCGTCATGTGA CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcAggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAatcgtcatgtgaAGATCGAGACCCGACGC chrX:131135425-Reference-A;Patient-66 chrX:131135425-AG DeNovo Patient-66 intergenic 9.1e-05 0.000513 1.72 16.91 4.91 STK26 21819 Alternative C cctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttattt AGTTAACCGAAC CGACGCGGTCTCTCTCTcctcttccctatgctgccaagcaggaaatggttgtcagaggttattgtgcCggtgacagttaacagccgtacctttaacattccatcaaacctgttatttAGAGGGAGACGGACGTCTCAATAAagttaaccgaacAGATCGAGACCCGACGC chrX:131135425-Alternative-C;Patient-66 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative A gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ATAGGTGCCGGT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAataggtgccggtAGATCGAGACCCGACGC chrX:132454390-Alternative-A;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative G gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg GCCACGATAGTT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAgccacgatagttAGATCGAGACCCGACGC chrX:132454390-Alternative-G;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative G gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg CACGTATCGTGC CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAcacgtatcgtgcAGATCGAGACCCGACGC chrX:132454390-Alternative-G;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative G gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg GCAGGTAGCGTT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAgcaggtagcgttAGATCGAGACCCGACGC chrX:132454390-Alternative-G;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Reference C gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ATAGCTGAACGA CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAatagctgaacgaAGATCGAGACCCGACGC chrX:132454390-Reference-C;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative G gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg CTAGTGCGATGG CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAActagtgcgatggAGATCGAGACCCGACGC chrX:132454390-Alternative-G;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Variant T gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg CTCTCGTTAGCG CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAActctcgttagcgAGATCGAGACCCGACGC chrX:132454390-Variant-T;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Reference C gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg AAGTCATCGAAG CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAaagtcatcgaagAGATCGAGACCCGACGC chrX:132454390-Reference-C;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Variant T gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ATAAGCGTTCCT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAataagcgttcctAGATCGAGACCCGACGC chrX:132454390-Variant-T;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative G gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg AACTCCGCATCG CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctGatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAaactccgcatcgAGATCGAGACCCGACGC chrX:132454390-Alternative-G;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative A gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg CAAGCGAAGTCT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAcaagcgaagtctAGATCGAGACCCGACGC chrX:132454390-Alternative-A;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Variant T gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ACGCTCGCGATT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAacgctcgcgattAGATCGAGACCCGACGC chrX:132454390-Variant-T;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative A gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg GCCACTATCGCA CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAgccactatcgcaAGATCGAGACCCGACGC chrX:132454390-Alternative-A;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative A gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ACCTACGATTGC CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAacctacgattgcAGATCGAGACCCGACGC chrX:132454390-Alternative-A;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Reference C gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg AACTCGCAAGAT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAaactcgcaagatAGATCGAGACCCGACGC chrX:132454390-Reference-C;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Reference C gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ACGTTCGACCGA CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAacgttcgaccgaAGATCGAGACCCGACGC chrX:132454390-Reference-C;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Alternative A gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg CGTTAAGACCTA CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctAatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAcgttaagacctaAGATCGAGACCCGACGC chrX:132454390-Alternative-A;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Variant T gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg ATTCATTCTGCG CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAattcattctgcgAGATCGAGACCCGACGC chrX:132454390-Variant-T;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Reference C gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg GATGGCTGGTCA CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctCatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAgatggctggtcaAGATCGAGACCCGACGC chrX:132454390-Reference-C;Patient-89 chrX:132454390-CT Inherited Patient-89 intronic GPC4 NA 4.95e-05 -0.3 0.37 -0.75 GPC4 94814 Variant T gttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctg AGGTGCCTCGAT CGACGCGGTCTCTCTCTgttagggttatatttagaaagtaaatttctcaaggccagatgtggtggctTatgcctataattccagcactttgggaggccgaggtgggcgaatcacctgAGAGGGAGACGGACGTCTCAATAAaggtgcctcgatAGATCGAGACCCGACGC chrX:132454390-Variant-T;Patient-89 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Reference C actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GGCTTCGTAGCA CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAggcttcgtagcaAGATCGAGACCCGACGC chrX:132570827-Reference-C;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Reference C actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CAGGACGTCTGT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAcaggacgtctgtAGATCGAGACCCGACGC chrX:132570827-Reference-C;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative A actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GGTATCTGCGTC CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAggtatctgcgtcAGATCGAGACCCGACGC chrX:132570827-Alternative-A;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative A actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GTCGTCCGTGAA CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgtcgtccgtgaaAGATCGAGACCCGACGC chrX:132570827-Alternative-A;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative A actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CTTACAACGGCG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAActtacaacggcgAGATCGAGACCCGACGC chrX:132570827-Alternative-A;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative A actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CAGATGTGACGG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAcagatgtgacggAGATCGAGACCCGACGC chrX:132570827-Alternative-A;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Variant T actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GTCTACGCTATC CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgtctacgctatcAGATCGAGACCCGACGC chrX:132570827-Variant-T;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Reference C actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CTGCTTGCACAC CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAActgcttgcacacAGATCGAGACCCGACGC chrX:132570827-Reference-C;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative A actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CATGACTTCGCG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagAacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAcatgacttcgcgAGATCGAGACCCGACGC chrX:132570827-Alternative-A;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Reference C actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GATGTCGTTCTT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgatgtcgttcttAGATCGAGACCCGACGC chrX:132570827-Reference-C;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Reference C actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GGACGGTTCGAA CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagCacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAggacggttcgaaAGATCGAGACCCGACGC chrX:132570827-Reference-C;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Variant T actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CGATATCTCGAT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAcgatatctcgatAGATCGAGACCCGACGC chrX:132570827-Variant-T;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative G actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GTGTAGTGGTGG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgtgtagtggtggAGATCGAGACCCGACGC chrX:132570827-Alternative-G;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative G actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc ACCTAATACGGT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAacctaatacggtAGATCGAGACCCGACGC chrX:132570827-Alternative-G;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative G actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CGATGCCTAGTT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAcgatgcctagttAGATCGAGACCCGACGC chrX:132570827-Alternative-G;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative G actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GAGAGCGATCGA CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgagagcgatcgaAGATCGAGACCCGACGC chrX:132570827-Alternative-G;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Variant T actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc AAGCATAGACCG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAaagcatagaccgAGATCGAGACCCGACGC chrX:132570827-Variant-T;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Alternative G actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc CTGAAGCGCTGA CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagGacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAActgaagcgctgaAGATCGAGACCCGACGC chrX:132570827-Alternative-G;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Variant T actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc GCATCGACTAAT CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAgcatcgactaatAGATCGAGACCCGACGC chrX:132570827-Variant-T;Patient-39 chrX:132570827-CT DeNovo Patient-39 intergenic NA 0.000513 0.01 2.83 0.45 GPC4 21621 Variant T actccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtc AGTGTAGAATCG CGACGCGGTCTCTCTCTactccagcctgggcgacagagggaggcttcgactcaaggaaaaaaaaaagTacaactgtctgtctggtggataatggaaattcagggcagcctttttgtcAGAGGGAGACGGACGTCTCAATAAagtgtagaatcgAGATCGAGACCCGACGC chrX:132570827-Variant-T;Patient-39 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative A tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt ACTTGATAGACG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAacttgatagacgAGATCGAGACCCGACGC chrX:133622356-Alternative-A;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative A tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt AGAACGTTCCTA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAagaacgttcctaAGATCGAGACCCGACGC chrX:133622356-Alternative-A;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Variant G tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt AAGGAGTCCGAC CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAaaggagtccgacAGATCGAGACCCGACGC chrX:133622356-Variant-G;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative A tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GCGTTCTTGGAC CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAgcgttcttggacAGATCGAGACCCGACGC chrX:133622356-Alternative-A;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Reference C tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt AGGCGGTTCTGA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAaggcggttctgaAGATCGAGACCCGACGC chrX:133622356-Reference-C;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Variant G tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt ACTAGAGAGCAT CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAactagagagcatAGATCGAGACCCGACGC chrX:133622356-Variant-G;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Reference C tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CGGAACTACACG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcggaactacacgAGATCGAGACCCGACGC chrX:133622356-Reference-C;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Variant G tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CGTTGCCGGATA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcgttgccggataAGATCGAGACCCGACGC chrX:133622356-Variant-G;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative A tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GGAACCTATCAA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAggaacctatcaaAGATCGAGACCCGACGC chrX:133622356-Alternative-A;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative T tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CGGAGTGTTATA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcggagtgttataAGATCGAGACCCGACGC chrX:133622356-Alternative-T;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Variant G tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GACGTCCTACGA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAgacgtcctacgaAGATCGAGACCCGACGC chrX:133622356-Variant-G;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative T tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt ACGCTTATTAGG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAacgcttattaggAGATCGAGACCCGACGC chrX:133622356-Alternative-T;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Reference C tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GTGTTCTTGGCG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAgtgttcttggcgAGATCGAGACCCGACGC chrX:133622356-Reference-C;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative T tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CGTCAGTATCGG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcgtcagtatcggAGATCGAGACCCGACGC chrX:133622356-Alternative-T;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Variant G tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt ACAAGCGGACGA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaGagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAacaagcggacgaAGATCGAGACCCGACGC chrX:133622356-Variant-G;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Reference C tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CGAATAGCGAAT CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcgaatagcgaatAGATCGAGACCCGACGC chrX:133622356-Reference-C;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative T tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GTTAGACGGCGA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAgttagacggcgaAGATCGAGACCCGACGC chrX:133622356-Alternative-T;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative T tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CTAAGCGCCAAG CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaTagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAActaagcgccaagAGATCGAGACCCGACGC chrX:133622356-Alternative-T;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Reference C tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt GATGAACCTGGT CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaCagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAgatgaacctggtAGATCGAGACCCGACGC chrX:133622356-Reference-C;Patient-1 chrX:133622356-CG DeNovo Patient-1 intronic HPRT1 NA 4.19e-05 -0.27 0.46 -0.12 HPRT1 28180 Alternative A tacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggt CACGGAACTACA CGACGCGGTCTCTCTCTtacaggcgcacgccaccatgcctggctaatttttttatctttagtagagaAagggtttcaccatgttgaccaggctgatctccaactcctgatctcaggtAGAGGGAGACGGACGTCTCAATAAcacggaactacaAGATCGAGACCCGACGC chrX:133622356-Alternative-A;Patient-1 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Reference T caggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt CGATGGACTACG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAcgatggactacgAGATCGAGACCCGACGC chrX:134997340-Reference-T;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Reference T caggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GCCAGACCTATC CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgccagacctatcAGATCGAGACCCGACGC chrX:134997340-Reference-T;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Reference T caggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt AATAGTCGACGA CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAaatagtcgacgaAGATCGAGACCCGACGC chrX:134997340-Reference-T;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Reference T caggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GAGAGTTAGCAA CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgagagttagcaaAGATCGAGACCCGACGC chrX:134997340-Reference-T;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Reference T caggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt ACCTCGGCAAGT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaTccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAacctcggcaagtAGATCGAGACCCGACGC chrX:134997340-Reference-T;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative A caggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GCATACCTGGAC CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgcatacctggacAGATCGAGACCCGACGC chrX:134997340-Alternative-A;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative G caggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt AGCAAGATACCA CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAagcaagataccaAGATCGAGACCCGACGC chrX:134997340-Alternative-G;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative G caggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt ACCTAACCGCCT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAacctaaccgcctAGATCGAGACCCGACGC chrX:134997340-Alternative-G;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative A caggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GGCAGTTGTTCG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAggcagttgttcgAGATCGAGACCCGACGC chrX:134997340-Alternative-A;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative A caggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt CAGATTAGACGG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAcagattagacggAGATCGAGACCCGACGC chrX:134997340-Alternative-A;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Variant C caggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt AGCAGCATCTAT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAagcagcatctatAGATCGAGACCCGACGC chrX:134997340-Variant-C;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative G caggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GGTTATCGGCGT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAggttatcggcgtAGATCGAGACCCGACGC chrX:134997340-Alternative-G;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative G caggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GCCGGTTCACAT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgccggttcacatAGATCGAGACCCGACGC chrX:134997340-Alternative-G;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative G caggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GACAACGCGAAG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaGccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgacaacgcgaagAGATCGAGACCCGACGC chrX:134997340-Alternative-G;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Variant C caggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt ACGCTGGACCAT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAacgctggaccatAGATCGAGACCCGACGC chrX:134997340-Variant-C;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Variant C caggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt ACATCGTGAACG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAacatcgtgaacgAGATCGAGACCCGACGC chrX:134997340-Variant-C;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Variant C caggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt GAATCACGTAGA CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAgaatcacgtagaAGATCGAGACCCGACGC chrX:134997340-Variant-C;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative A caggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt AAGGACTTCGTT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAaaggacttcgttAGATCGAGACCCGACGC chrX:134997340-Alternative-A;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Alternative A caggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt CGTGAATCAACG CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaAccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAcgtgaatcaacgAGATCGAGACCCGACGC chrX:134997340-Alternative-A;Patient-9 chrX:134997340-TC DeNovo Patient-9 intergenic NA 0.000513 0.15 5.07 0.46 MMGT1 58793 Variant C caggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagt ATAATCCGTGCT CGACGCGGTCTCTCTCTcaggttggccctggtgagtggaagtccatgctactgaagcataatctctaCccctggtcaccttagccactttgtgaacccatgaggttgtgacacaagtAGAGGGAGACGGACGTCTCAATAAataatccgtgctAGATCGAGACCCGACGC chrX:134997340-Variant-C;Patient-9 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Variant C catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GTGACCGTCGAT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgtgaccgtcgatAGATCGAGACCCGACGC chrX:135816931-Variant-C;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Variant C catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggtta CTTATACCGTGT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAActtataccgtgtAGATCGAGACCCGACGC chrX:135816931-Variant-C;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Variant C catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GAGTTGCGACGA CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgagttgcgacgaAGATCGAGACCCGACGC chrX:135816931-Variant-C;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Variant C catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggtta ATAGCGTGTAAG CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAatagcgtgtaagAGATCGAGACCCGACGC chrX:135816931-Variant-C;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Variant C catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggtta AACCAAGCGCGA CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaCcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaaccaagcgcgaAGATCGAGACCCGACGC chrX:135816931-Variant-C;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative A catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GTATATGGCCGG CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgtatatggccggAGATCGAGACCCGACGC chrX:135816931-Alternative-A;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative A catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GTACACACGCGT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgtacacacgcgtAGATCGAGACCCGACGC chrX:135816931-Alternative-A;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative T catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GATAGCTAGGAT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgatagctaggatAGATCGAGACCCGACGC chrX:135816931-Alternative-T;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative A catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggtta CGTCTATCATGT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAcgtctatcatgtAGATCGAGACCCGACGC chrX:135816931-Alternative-A;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative A catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggtta ATTCGCTGACGG CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAattcgctgacggAGATCGAGACCCGACGC chrX:135816931-Alternative-A;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative A catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggtta AATCACGTTCGA CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaAcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaatcacgttcgaAGATCGAGACCCGACGC chrX:135816931-Alternative-A;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Reference G catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggtta ACCGAAGTTCAA CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaccgaagttcaaAGATCGAGACCCGACGC chrX:135816931-Reference-G;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Reference G catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggtta ACAGACGGCTGT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAacagacggctgtAGATCGAGACCCGACGC chrX:135816931-Reference-G;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Reference G catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggtta ACGAGATCTACC CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAacgagatctaccAGATCGAGACCCGACGC chrX:135816931-Reference-G;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Reference G catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GATTCCACTAGA CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAgattccactagaAGATCGAGACCCGACGC chrX:135816931-Reference-G;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Reference G catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggtta AATAGGCCATAC CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaGcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaataggccatacAGATCGAGACCCGACGC chrX:135816931-Reference-G;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative T catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggtta AATGCGATGCGC CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaatgcgatgcgcAGATCGAGACCCGACGC chrX:135816931-Alternative-T;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative T catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggtta GGCAATCGTGCT CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAggcaatcgtgctAGATCGAGACCCGACGC chrX:135816931-Alternative-T;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative T catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggtta AAGGCGTCATCG CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAaaggcgtcatcgAGATCGAGACCCGACGC chrX:135816931-Alternative-T;Patient-12 chrX:135816931-GC DeNovo Patient-12 intronic ARHGEF6 0.000555 0.000126 NA NA NA ARHGEF6 46571 Alternative T catgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggtta CATTGGTTGCGG CGACGCGGTCTCTCTCTcatgaatatagatgcaaaaaaatttacaaaatattagcaagtaaaattcaTcaatattttaaaagaattgtatactatgggattcatcctaggttggttaAGAGGGAGACGGACGTCTCAATAAcattggttgcggAGATCGAGACCCGACGC chrX:135816931-Alternative-T;Patient-12 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative T gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGGATATAGCAT CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcggatatagcatAGATCGAGACCCGACGC chrX:136732538-Alternative-T;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative T gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGGTATGTCGTC CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcggtatgtcgtcAGATCGAGACCCGACGC chrX:136732538-Alternative-T;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Reference A gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGTACCTTCACG CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcgtaccttcacgAGATCGAGACCCGACGC chrX:136732538-Reference-A;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative T gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa ATCCTCGATCCA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAatcctcgatccaAGATCGAGACCCGACGC chrX:136732538-Alternative-T;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative T gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGTGGACTCAGT CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcgtggactcagtAGATCGAGACCCGACGC chrX:136732538-Alternative-T;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative C gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGCAACAACACG CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcgcaacaacacgAGATCGAGACCCGACGC chrX:136732538-Alternative-C;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Reference A gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa ATCGAAGACGAC CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAatcgaagacgacAGATCGAGACCCGACGC chrX:136732538-Reference-A;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative C gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CATGCGCAAGCA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcatgcgcaagcaAGATCGAGACCCGACGC chrX:136732538-Alternative-C;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative C gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGCGATGTGAAC CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcgcgatgtgaacAGATCGAGACCCGACGC chrX:136732538-Alternative-C;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Reference A gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CGGCTATCGAGA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAcggctatcgagaAGATCGAGACCCGACGC chrX:136732538-Reference-A;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative C gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa ACATCTGACAAG CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAacatctgacaagAGATCGAGACCCGACGC chrX:136732538-Alternative-C;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative C gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa AAGGTTAGCGAT CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaCaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAaaggttagcgatAGATCGAGACCCGACGC chrX:136732538-Alternative-C;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Reference A gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa CTCTCGTTCGTC CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAActctcgttcgtcAGATCGAGACCCGACGC chrX:136732538-Reference-A;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Reference A gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa AACAGCGTTAGA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaAaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAaacagcgttagaAGATCGAGACCCGACGC chrX:136732538-Reference-A;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Variant G gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa ACGCGTTCAGCT CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAacgcgttcagctAGATCGAGACCCGACGC chrX:136732538-Variant-G;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Variant G gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa GCAGCGTAATTA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAgcagcgtaattaAGATCGAGACCCGACGC chrX:136732538-Variant-G;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Variant G gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa ACGCTTCAATGA CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAacgcttcaatgaAGATCGAGACCCGACGC chrX:136732538-Variant-G;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Variant G gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa GTACACGTTCCT CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAgtacacgttcctAGATCGAGACCCGACGC chrX:136732538-Variant-G;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Variant G gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa GTAGTACTATCG CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaGaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAgtagtactatcgAGATCGAGACCCGACGC chrX:136732538-Variant-G;Patient-89 chrX:136732538-AG DeNovo Patient-89 intergenic NA 0.000512821 -0.37 0.23 -1.79 ZIC3 84191 Alternative T gaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaa GTTCATCACATC CGACGCGGTCTCTCTCTgaaaaaaagaaatttgctaagagagtaaatcttaaatgttcttgtcaccaTaaaatgttaactatatgatatgatgaatatgttaattagcttgctttaaAGAGGGAGACGGACGTCTCAATAAgttcatcacatcAGATCGAGACCCGACGC chrX:136732538-Alternative-T;Patient-89 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative G caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CAACCTATAGCA CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcaacctatagcaAGATCGAGACCCGACGC chrX:138332048-Alternative-G;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative G caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AATGATCGCGCG CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAaatgatcgcgcgAGATCGAGACCCGACGC chrX:138332048-Alternative-G;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Reference T caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CTAACAGCGAGT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAActaacagcgagtAGATCGAGACCCGACGC chrX:138332048-Reference-T;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative G caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CGCGAATAATGT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcgcgaataatgtAGATCGAGACCCGACGC chrX:138332048-Alternative-G;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative G caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CACAACTCGCCA CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcacaactcgccaAGATCGAGACCCGACGC chrX:138332048-Alternative-G;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative A caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CGAGCTACACCA CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcgagctacaccaAGATCGAGACCCGACGC chrX:138332048-Alternative-A;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative A caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AGAGTGTTGAGT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAagagtgttgagtAGATCGAGACCCGACGC chrX:138332048-Alternative-A;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative G caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AGCTCAGGTCTT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaGttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAagctcaggtcttAGATCGAGACCCGACGC chrX:138332048-Alternative-G;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Reference T caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CATTCATCGAGT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcattcatcgagtAGATCGAGACCCGACGC chrX:138332048-Reference-T;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative A caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AAGGTAGGACGG CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAaaggtaggacggAGATCGAGACCCGACGC chrX:138332048-Alternative-A;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative A caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt ATACATGCGGTT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAatacatgcggttAGATCGAGACCCGACGC chrX:138332048-Alternative-A;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Variant C caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CTAACGCTTCGG CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAActaacgcttcggAGATCGAGACCCGACGC chrX:138332048-Variant-C;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Reference T caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AAGATGTCTGAG CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAaagatgtctgagAGATCGAGACCCGACGC chrX:138332048-Reference-T;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Variant C caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CTTATGTACGAC CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAActtatgtacgacAGATCGAGACCCGACGC chrX:138332048-Variant-C;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Variant C caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt ATACCGGCTACG CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAataccggctacgAGATCGAGACCCGACGC chrX:138332048-Variant-C;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Alternative A caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CGAGGTGGATAC CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaAttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcgaggtggatacAGATCGAGACCCGACGC chrX:138332048-Alternative-A;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Reference T caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AGAGGTGCCGTT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAagaggtgccgttAGATCGAGACCCGACGC chrX:138332048-Reference-T;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Variant C caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt GAGGTACGGTAC CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAgaggtacggtacAGATCGAGACCCGACGC chrX:138332048-Variant-C;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Reference T caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt CATATAGGCGAT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaTttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAcatataggcgatAGATCGAGACCCGACGC chrX:138332048-Reference-T;Patient-37 chrX:138332048-TC DeNovo Patient-37 intergenic 0.000228 0.00103 0.18 5.58 1.81 FGF13 44862 Variant C caccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgtt AAGCGCCGTTGT CGACGCGGTCTCTCTCTcaccctaacaatgagaaaaagctggataatttataaaaatgtaacatttaCttaacccatcaaaaatctgaaggcataggatcttagtccatttagtgttAGAGGGAGACGGACGTCTCAATAAaagcgccgttgtAGATCGAGACCCGACGC chrX:138332048-Variant-C;Patient-37 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative C gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CAATTAGTCCGA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcaattagtccgaAGATCGAGACCCGACGC chrX:138617578-Alternative-C;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative C gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GCAAGCTGTTCG CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgcaagctgttcgAGATCGAGACCCGACGC chrX:138617578-Alternative-C;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative C gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GACGACCGGTAA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgacgaccggtaaAGATCGAGACCCGACGC chrX:138617578-Alternative-C;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative G gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca ACTCCGAATGCA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAactccgaatgcaAGATCGAGACCCGACGC chrX:138617578-Alternative-G;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative G gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CGATCACGGTAC CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcgatcacggtacAGATCGAGACCCGACGC chrX:138617578-Alternative-G;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Variant T gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CAAGCAACTCTT CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcaagcaactcttAGATCGAGACCCGACGC chrX:138617578-Variant-T;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Variant T gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GAGGTTGGACGT CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgaggttggacgtAGATCGAGACCCGACGC chrX:138617578-Variant-T;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Variant T gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GTGGCTAGCAGA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgtggctagcagaAGATCGAGACCCGACGC chrX:138617578-Variant-T;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Variant T gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca AGCCGTCATGAG CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAagccgtcatgagAGATCGAGACCCGACGC chrX:138617578-Variant-T;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative G gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CGAACGTCAGAA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcgaacgtcagaaAGATCGAGACCCGACGC chrX:138617578-Alternative-G;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative G gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca AGCAATCGGCCA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAagcaatcggccaAGATCGAGACCCGACGC chrX:138617578-Alternative-G;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative G gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CGTTCCTAGCGT CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaGaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcgttcctagcgtAGATCGAGACCCGACGC chrX:138617578-Alternative-G;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Reference A gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GATACGTACCGT CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgatacgtaccgtAGATCGAGACCCGACGC chrX:138617578-Reference-A;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Variant T gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GTACTAATGCAC CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaTaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgtactaatgcacAGATCGAGACCCGACGC chrX:138617578-Variant-T;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Reference A gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GATGCTTCTAGA CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgatgcttctagaAGATCGAGACCCGACGC chrX:138617578-Reference-A;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Reference A gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CGGAATCGGTAC CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcggaatcggtacAGATCGAGACCCGACGC chrX:138617578-Reference-A;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Reference A gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CTTACTCGGTCG CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAActtactcggtcgAGATCGAGACCCGACGC chrX:138617578-Reference-A;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Reference A gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca CGAGTAACGGAC CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaAaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAcgagtaacggacAGATCGAGACCCGACGC chrX:138617578-Reference-A;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative C gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GCGACGTTATCG CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgcgacgttatcgAGATCGAGACCCGACGC chrX:138617578-Alternative-C;Patient-85 chrX:138617578-AT DeNovo Patient-85 intronic F9 NA 4.19e-05 0.15 5.04 2.33 F9 4682 Alternative C gttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaaca GCGAACTCATAT CGACGCGGTCTCTCTCTgttgaagagaaaaagtctaggctaaattcaaagaaaaaaagtgagcccaaCaggaacttgcagagcaagggaaaagcagggatgtcaagggactagaacaAGAGGGAGACGGACGTCTCAATAAgcgaactcatatAGATCGAGACCCGACGC chrX:138617578-Alternative-C;Patient-85 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Variant A tcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CTCGTATGTAAC CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAActcgtatgtaacAGATCGAGACCCGACGC chrX:139641359-Variant-A;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Variant A tcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CGGAACTCATAT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAcggaactcatatAGATCGAGACCCGACGC chrX:139641359-Variant-A;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative C tcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CTGGTTCGTCGT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAActggttcgtcgtAGATCGAGACCCGACGC chrX:139641359-Alternative-C;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative C tcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc ACCAACCGAATA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAaccaaccgaataAGATCGAGACCCGACGC chrX:139641359-Alternative-C;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative C tcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc AGTACTCATGGT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAagtactcatggtAGATCGAGACCCGACGC chrX:139641359-Alternative-C;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Reference G tcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GGATCAACTGTT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAggatcaactgttAGATCGAGACCCGACGC chrX:139641359-Reference-G;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Variant A tcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GGTCTTGGTGCA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAggtcttggtgcaAGATCGAGACCCGACGC chrX:139641359-Variant-A;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative T tcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CAGGACGTAATA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAcaggacgtaataAGATCGAGACCCGACGC chrX:139641359-Alternative-T;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Reference G tcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc ATATATCCGACC CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAatatatccgaccAGATCGAGACCCGACGC chrX:139641359-Reference-G;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Reference G tcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GTTGACTACTTC CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAgttgactacttcAGATCGAGACCCGACGC chrX:139641359-Reference-G;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Reference G tcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc ATAGCATGCGGC CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAatagcatgcggcAGATCGAGACCCGACGC chrX:139641359-Reference-G;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Variant A tcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GTCGTACGGTGT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAgtcgtacggtgtAGATCGAGACCCGACGC chrX:139641359-Variant-A;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Reference G tcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc AATGTGGCGCGT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatGtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAaatgtggcgcgtAGATCGAGACCCGACGC chrX:139641359-Reference-G;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative T tcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc ATAGGCTTCGCA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAataggcttcgcaAGATCGAGACCCGACGC chrX:139641359-Alternative-T;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative C tcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CTTAACGGATCA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAActtaacggatcaAGATCGAGACCCGACGC chrX:139641359-Alternative-C;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Variant A tcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc CGTGTCGTCGAA CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatAtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAcgtgtcgtcgaaAGATCGAGACCCGACGC chrX:139641359-Variant-A;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative C tcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GTACGACTATGT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatCtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAgtacgactatgtAGATCGAGACCCGACGC chrX:139641359-Alternative-C;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative T tcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc GTATCGTCTAAC CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAgtatcgtctaacAGATCGAGACCCGACGC chrX:139641359-Alternative-T;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative T tcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc AACAACAACGCT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAaacaacaacgctAGATCGAGACCCGACGC chrX:139641359-Alternative-T;Patient-37 chrX:139641359-GA Inherited Patient-37 intergenic NA 0.000513 0.54 9.78 0.23 SOX3 54133 Alternative T tcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctaccc AGACGTTCCTAT CGACGCGGTCTCTCTCTtcctactctgctatcaaacattagaacttatttcttctatctaactgtatTtttgcaccattaaccaacttctcttcatccttccccctaccacctacccAGAGGGAGACGGACGTCTCAATAAagacgttcctatAGATCGAGACCCGACGC chrX:139641359-Alternative-T;Patient-37 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Reference G ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GAGTACCTTGAT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgagtaccttgatAGATCGAGACCCGACGC chrX:1458642-Reference-G;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Reference G ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaa AGTCGATTCGAA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAagtcgattcgaaAGATCGAGACCCGACGC chrX:1458642-Reference-G;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Reference G ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaa AGCTGACACGAA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAagctgacacgaaAGATCGAGACCCGACGC chrX:1458642-Reference-G;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Reference G ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaa CGGTCACTAACG CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAcggtcactaacgAGATCGAGACCCGACGC chrX:1458642-Reference-G;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Reference G ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GGCGGTTAGACA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcGccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAggcggttagacaAGATCGAGACCCGACGC chrX:1458642-Reference-G;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative C ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GTCGGAATAAGT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgtcggaataagtAGATCGAGACCCGACGC chrX:1458642-Alternative-C;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Variant A ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GCGGTCAATGAG CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgcggtcaatgagAGATCGAGACCCGACGC chrX:1458642-Variant-A;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative C ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GCAGTCTTCTAT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgcagtcttctatAGATCGAGACCCGACGC chrX:1458642-Alternative-C;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Variant A ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GGATGGTAGTAT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAggatggtagtatAGATCGAGACCCGACGC chrX:1458642-Variant-A;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative C ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaa CAACGCAAGATT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAcaacgcaagattAGATCGAGACCCGACGC chrX:1458642-Alternative-C;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Variant A ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GGATCGAAGTAA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAggatcgaagtaaAGATCGAGACCCGACGC chrX:1458642-Variant-A;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative T ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GCGTCACAGCAA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgcgtcacagcaaAGATCGAGACCCGACGC chrX:1458642-Alternative-T;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative T ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GCAGTGTCGCTA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgcagtgtcgctaAGATCGAGACCCGACGC chrX:1458642-Alternative-T;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative C ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaa ACAGGACGATGA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAacaggacgatgaAGATCGAGACCCGACGC chrX:1458642-Alternative-C;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative T ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GTTATCTCGTCA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgttatctcgtcaAGATCGAGACCCGACGC chrX:1458642-Alternative-T;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative T ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaa CTGAGTCGTGGT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAActgagtcgtggtAGATCGAGACCCGACGC chrX:1458642-Alternative-T;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative T ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GTGTATTCGTTC CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcTccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgtgtattcgttcAGATCGAGACCCGACGC chrX:1458642-Alternative-T;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Variant A ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaa GTCCGAATGTAA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAgtccgaatgtaaAGATCGAGACCCGACGC chrX:1458642-Variant-A;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Variant A ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaa ATTCGTGAACGA CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcAccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAAattcgtgaacgaAGATCGAGACCCGACGC chrX:1458642-Variant-A;Patient-66 chrX:1458642-GA DeNovo Patient-66 intronic IL3RA 3.2e-05 0.00016 -0.27 0.44 -0.25 IL3RA 3132 Alternative C ggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaa CTTGAATCCGTT CGACGCGGTCTCTCTCTggagaatcgcttgaacgtgggaggtggaggttgcagtgaaccaagatcgcCccactgcactccggcctggacaacaagagtgagactccatctcagaaaaAGAGGGAGACGGACGTCTCAATAActtgaatccgttAGATCGAGACCCGACGC chrX:1458642-Alternative-C;Patient-66 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Variant C aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CGTCCTACTACA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcgtcctactacaAGATCGAGACCCGACGC chrX:147585452-Variant-C;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Variant C aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ACTTGCATACGA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAacttgcatacgaAGATCGAGACCCGACGC chrX:147585452-Variant-C;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Variant C aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CGAGCTGTTAAT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcgagctgttaatAGATCGAGACCCGACGC chrX:147585452-Variant-C;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Variant C aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CATTCGTCATCA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcattcgtcatcaAGATCGAGACCCGACGC chrX:147585452-Variant-C;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative A aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg GTACCGACTGAT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAgtaccgactgatAGATCGAGACCCGACGC chrX:147585452-Alternative-A;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative A aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ATCATGCGACCT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAatcatgcgacctAGATCGAGACCCGACGC chrX:147585452-Alternative-A;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative A aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CAAGATGAGTCA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcaagatgagtcaAGATCGAGACCCGACGC chrX:147585452-Alternative-A;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Reference G aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg AATGCTCACGTT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAaatgctcacgttAGATCGAGACCCGACGC chrX:147585452-Reference-G;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Variant C aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg AAGGCAAGAACC CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaCtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAaaggcaagaaccAGATCGAGACCCGACGC chrX:147585452-Variant-C;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative T aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg AAGCGTCATCGG CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAaagcgtcatcggAGATCGAGACCCGACGC chrX:147585452-Alternative-T;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative T aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ACGCTAGTTGTT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAacgctagttgttAGATCGAGACCCGACGC chrX:147585452-Alternative-T;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative T aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ATAGTTGGCGCG CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAatagttggcgcgAGATCGAGACCCGACGC chrX:147585452-Alternative-T;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Reference G aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CGTCAATGGCGA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcgtcaatggcgaAGATCGAGACCCGACGC chrX:147585452-Reference-G;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative A aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg AACAACTCATGC CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAaacaactcatgcAGATCGAGACCCGACGC chrX:147585452-Alternative-A;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative A aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ACTCAACACTGA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaAtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAactcaacactgaAGATCGAGACCCGACGC chrX:147585452-Alternative-A;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative T aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg GTGTCCGACCTT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAgtgtccgaccttAGATCGAGACCCGACGC chrX:147585452-Alternative-T;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Alternative T aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg ATACGCTAGTCT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaTtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAatacgctagtctAGATCGAGACCCGACGC chrX:147585452-Alternative-T;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Reference G aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CAGTAGCGGTAC CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcagtagcggtacAGATCGAGACCCGACGC chrX:147585452-Reference-G;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Reference G aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg AGCGGTATGACT CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAagcggtatgactAGATCGAGACCCGACGC chrX:147585452-Reference-G;Patient-36 chrX:147585452-GC DeNovo Patient-36 intronic AFF2 0.000137 0.000126 1.67 16.63 3.89 AFF2 3312 Reference G aaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatg CATCGAGATCGA CGACGCGGTCTCTCTCTaaagctcaagttctttaagattcttggatgaatgagcaatgttcacctgaGtctgaatttaatataaaccattctgtgaaagaaaaagatggcacagatgAGAGGGAGACGGACGTCTCAATAAcatcgagatcgaAGATCGAGACCCGACGC chrX:147585452-Reference-G;Patient-36 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative C tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ACTTATGGCGAT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAacttatggcgatAGATCGAGACCCGACGC chrX:148653715-Alternative-C;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative C tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct CTAAGAATCGAG CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAActaagaatcgagAGATCGAGACCCGACGC chrX:148653715-Alternative-C;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative C tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct CAAGAGCATCAA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAcaagagcatcaaAGATCGAGACCCGACGC chrX:148653715-Alternative-C;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative C tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ACAGAGCTCAGT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAacagagctcagtAGATCGAGACCCGACGC chrX:148653715-Alternative-C;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative C tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct GATACAGTCGAA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaCtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAgatacagtcgaaAGATCGAGACCCGACGC chrX:148653715-Alternative-C;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative T tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ACACTAGGCGCA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAacactaggcgcaAGATCGAGACCCGACGC chrX:148653715-Alternative-T;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Variant A tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AGCGGTAGCATC CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAagcggtagcatcAGATCGAGACCCGACGC chrX:148653715-Variant-A;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative T tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ATTATTCGACGG CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAattattcgacggAGATCGAGACCCGACGC chrX:148653715-Alternative-T;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative T tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct CGTCCAGAATAT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAcgtccagaatatAGATCGAGACCCGACGC chrX:148653715-Alternative-T;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Variant A tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AACGAACTGTTC CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAaacgaactgttcAGATCGAGACCCGACGC chrX:148653715-Variant-A;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Variant A tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct GTAGAGGATTCA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAgtagaggattcaAGATCGAGACCCGACGC chrX:148653715-Variant-A;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Variant A tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AGAGTAGTATCG CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAagagtagtatcgAGATCGAGACCCGACGC chrX:148653715-Variant-A;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Variant A tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AATGCTCACCGG CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaAtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAaatgctcaccggAGATCGAGACCCGACGC chrX:148653715-Variant-A;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative T tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AACAACTCGTCA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAaacaactcgtcaAGATCGAGACCCGACGC chrX:148653715-Alternative-T;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Alternative T tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ACCTGGACCGAT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaTtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAacctggaccgatAGATCGAGACCCGACGC chrX:148653715-Alternative-T;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Reference G tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AGCGTCGCAAGA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAagcgtcgcaagaAGATCGAGACCCGACGC chrX:148653715-Reference-G;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Reference G tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct CTTAATCGGTGT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAActtaatcggtgtAGATCGAGACCCGACGC chrX:148653715-Reference-G;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Reference G tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ACTTGCTCGATT CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAacttgctcgattAGATCGAGACCCGACGC chrX:148653715-Reference-G;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Reference G tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct AGCGCATTACTA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAagcgcattactaAGATCGAGACCCGACGC chrX:148653715-Reference-G;Patient-30 chrX:148653715-GA Inherited Patient-30 intergenic NA 0.000513 NA NA NA IDS 66830 Reference G tggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatct ATTGCGTGGTAA CGACGCGGTCTCTCTCTtggcgagtgctctaatcgctcctaagtgcctaaactggagccaccagtcaGtcatggctatggctctgagcttcccctgactaacgtagccagtgaatctAGAGGGAGACGGACGTCTCAATAAattgcgtggtaaAGATCGAGACCCGACGC chrX:148653715-Reference-G;Patient-30 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative A agttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgt CATAACAGCGTC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAcataacagcgtcAGATCGAGACCCGACGC chrX:149793024-Alternative-A;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Variant C agttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgt AAGGCTTGAGTT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAaaggcttgagttAGATCGAGACCCGACGC chrX:149793024-Variant-C;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Variant C agttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgt CAGATGTCTAAC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAcagatgtctaacAGATCGAGACCCGACGC chrX:149793024-Variant-C;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Variant C agttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgt ATCTGCCAAGTT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAatctgccaagttAGATCGAGACCCGACGC chrX:149793024-Variant-C;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative A agttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgt GATGGTCGACGA CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgatggtcgacgaAGATCGAGACCCGACGC chrX:149793024-Alternative-A;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Variant C agttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgt CTGGTTAGCCAT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAActggttagccatAGATCGAGACCCGACGC chrX:149793024-Variant-C;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative A agttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgt ACACGACTACAC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAacacgactacacAGATCGAGACCCGACGC chrX:149793024-Alternative-A;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative G agttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgt AACGCGCAAGTC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAaacgcgcaagtcAGATCGAGACCCGACGC chrX:149793024-Alternative-G;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative A agttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgt CGTCGTGTTGCT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAcgtcgtgttgctAGATCGAGACCCGACGC chrX:149793024-Alternative-A;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative G agttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgt GACCGCCTAGAT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgaccgcctagatAGATCGAGACCCGACGC chrX:149793024-Alternative-G;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Reference T agttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgt GTCCGGACATTC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgtccggacattcAGATCGAGACCCGACGC chrX:149793024-Reference-T;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Variant C agttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgt AGTTAGGACCAT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaCgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAagttaggaccatAGATCGAGACCCGACGC chrX:149793024-Variant-C;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative G agttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgt GCATGATCATTC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgcatgatcattcAGATCGAGACCCGACGC chrX:149793024-Alternative-G;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative G agttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgt GTCATAACAGCT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgtcataacagctAGATCGAGACCCGACGC chrX:149793024-Alternative-G;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Reference T agttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgt CGTAGCGAGTCT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAcgtagcgagtctAGATCGAGACCCGACGC chrX:149793024-Reference-T;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Reference T agttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgt AATGCGATGTTC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAaatgcgatgttcAGATCGAGACCCGACGC chrX:149793024-Reference-T;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Reference T agttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgt ATAAGGTCGGAT CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAataaggtcggatAGATCGAGACCCGACGC chrX:149793024-Reference-T;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative G agttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgt AGCGTGTGAATA CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaGgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAagcgtgtgaataAGATCGAGACCCGACGC chrX:149793024-Alternative-G;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Reference T agttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgt GCGGATCTAACC CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaTgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAgcggatctaaccAGATCGAGACCCGACGC chrX:149793024-Reference-T;Patient-27 chrX:149793024-TC DeNovo Patient-27 intronic MTM1 NA 4.19e-05 0.2 5.9 1.06 MTM1 55976 Alternative A agttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgt CGGACAACGCAA CGACGCGGTCTCTCTCTagttgttcttttgttgattttctttattgtttgctcattttttactcagaAgggataatcagagataatacacatattagatgagagttttttaaactgtAGAGGGAGACGGACGTCTCAATAAcggacaacgcaaAGATCGAGACCCGACGC chrX:149793024-Alternative-A;Patient-27 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative G ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc AGTACCGGACGT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAagtaccggacgtAGATCGAGACCCGACGC chrX:1511802-Alternative-G;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative G ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc ACAAGCTCTCGG CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAacaagctctcggAGATCGAGACCCGACGC chrX:1511802-Alternative-G;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative G ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GCACGAACGAGA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgcacgaacgagaAGATCGAGACCCGACGC chrX:1511802-Alternative-G;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative G ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc CGAGATAAGGTT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAcgagataaggttAGATCGAGACCCGACGC chrX:1511802-Alternative-G;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative G ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GTTCGTACTCAT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggGtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgttcgtactcatAGATCGAGACCCGACGC chrX:1511802-Alternative-G;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Variant T ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc CATTACCACGAA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAcattaccacgaaAGATCGAGACCCGACGC chrX:1511802-Variant-T;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative A ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GCCTTAATTCGT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgccttaattcgtAGATCGAGACCCGACGC chrX:1511802-Alternative-A;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Reference C ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc ATACGCGCGTGA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAatacgcgcgtgaAGATCGAGACCCGACGC chrX:1511802-Reference-C;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Variant T ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc ACGTCGTTGTAA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAacgtcgttgtaaAGATCGAGACCCGACGC chrX:1511802-Variant-T;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative A ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GCGGCAGTTAGA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgcggcagttagaAGATCGAGACCCGACGC chrX:1511802-Alternative-A;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Variant T ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GGAGTATATCAG CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAggagtatatcagAGATCGAGACCCGACGC chrX:1511802-Variant-T;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative A ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GCACGTTATCTT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgcacgttatcttAGATCGAGACCCGACGC chrX:1511802-Alternative-A;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative A ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc CTCGCTTCTTAT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAActcgcttcttatAGATCGAGACCCGACGC chrX:1511802-Alternative-A;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Variant T ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GGCGTAGAGTCT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAggcgtagagtctAGATCGAGACCCGACGC chrX:1511802-Variant-T;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Alternative A ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GGACAGCGTAAC CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggAtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAggacagcgtaacAGATCGAGACCCGACGC chrX:1511802-Alternative-A;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Variant T ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GGCGTACGGATT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggTtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAggcgtacggattAGATCGAGACCCGACGC chrX:1511802-Variant-T;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Reference C ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc ACCGTGAGCTTA CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAaccgtgagcttaAGATCGAGACCCGACGC chrX:1511802-Reference-C;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Reference C ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GCGGACCACAAT CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgcggaccacaatAGATCGAGACCCGACGC chrX:1511802-Reference-C;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Reference C ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc GTAATCCGAATC CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAgtaatccgaatcAGATCGAGACCCGACGC chrX:1511802-Reference-C;Patient-87 chrX:1511802-CT Inherited Patient-87 intergenic 0.000333 0.001025641 0.52 9.55 0 IL3RA 56292 Reference C ccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctc ATTGGTGCGACG CGACGCGGTCTCTCTCTccgggctcccctatttccccgtgtctgtgcccgtgtctgcccggcgggggCtgcggccggggtcctccttcgcgacctcccactccgcccttcctccctcAGAGGGAGACGGACGTCTCAATAAattggtgcgacgAGATCGAGACCCGACGC chrX:1511802-Reference-C;Patient-87 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative C gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GAGCTAAGCGGT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAgagctaagcggtAGATCGAGACCCGACGC chrX:151961259-Alternative-C;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative C gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GATATTCCGCGG CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAgatattccgcggAGATCGAGACCCGACGC chrX:151961259-Alternative-C;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Variant G gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac ACATAATCGTGC CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAacataatcgtgcAGATCGAGACCCGACGC chrX:151961259-Variant-G;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Variant G gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac ATCGAACTATGG CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAatcgaactatggAGATCGAGACCCGACGC chrX:151961259-Variant-G;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Variant G gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CGGTGACATAAT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAcggtgacataatAGATCGAGACCCGACGC chrX:151961259-Variant-G;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative C gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GGTGTATCATAC CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAggtgtatcatacAGATCGAGACCCGACGC chrX:151961259-Alternative-C;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative C gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CTCAACTTCGAT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAActcaacttcgatAGATCGAGACCCGACGC chrX:151961259-Alternative-C;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative C gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CGGACCATCTAC CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaCcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAcggaccatctacAGATCGAGACCCGACGC chrX:151961259-Alternative-C;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Reference A gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac AAGGCTAGTAGA CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAaaggctagtagaAGATCGAGACCCGACGC chrX:151961259-Reference-A;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Reference A gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GATCGCGTTACG CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAgatcgcgttacgAGATCGAGACCCGACGC chrX:151961259-Reference-A;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative T gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac ACATGAGTCACT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAacatgagtcactAGATCGAGACCCGACGC chrX:151961259-Alternative-T;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Variant G gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac ACAGCGCAACAT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAacagcgcaacatAGATCGAGACCCGACGC chrX:151961259-Variant-G;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Variant G gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GTAAGCGGTCCT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaGcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAgtaagcggtcctAGATCGAGACCCGACGC chrX:151961259-Variant-G;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Reference A gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac AGATTGGCCGCA CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAagattggccgcaAGATCGAGACCCGACGC chrX:151961259-Reference-A;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Reference A gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CGACGGTGTAGA CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAcgacggtgtagaAGATCGAGACCCGACGC chrX:151961259-Reference-A;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Reference A gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CTACGTTCGGAG CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaAcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAActacgttcggagAGATCGAGACCCGACGC chrX:151961259-Reference-A;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative T gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac ATTCGCATCTAC CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAattcgcatctacAGATCGAGACCCGACGC chrX:151961259-Alternative-T;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative T gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac CATGCGCAATAT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAcatgcgcaatatAGATCGAGACCCGACGC chrX:151961259-Alternative-T;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative T gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac GCAAGGCAATCG CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAgcaaggcaatcgAGATCGAGACCCGACGC chrX:151961259-Alternative-T;Patient-30 chrX:151961259-AG Inherited Patient-30 intergenic 0.000136 0.000513 NA NA NA CETN2 38041 Alternative T gttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtac AGAGGTTACGAT CGACGCGGTCTCTCTCTgttggatgcatacctaggaatagcaagacttgtgttcagctttgttgaaaTcaaacaaacaaacaaaaaactgacaaaccatctttgaaagtggctgtacAGAGGGAGACGGACGTCTCAATAAagaggttacgatAGATCGAGACCCGACGC chrX:151961259-Alternative-T;Patient-30 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Reference C agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactga AGTTCCGGTATA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAagttccggtataAGATCGAGACCCGACGC chrX:153690824-Reference-C;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative A agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGACTTCGTAGG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgacttcgtaggAGATCGAGACCCGACGC chrX:153690824-Alternative-A;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative A agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactga GTTCATACGTGA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAgttcatacgtgaAGATCGAGACCCGACGC chrX:153690824-Alternative-A;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Reference C agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGCGGTTCGTAA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgcggttcgtaaAGATCGAGACCCGACGC chrX:153690824-Reference-C;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Variant T agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactga GTAACGGACGCA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAgtaacggacgcaAGATCGAGACCCGACGC chrX:153690824-Variant-T;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative A agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGATCAGTACAG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgatcagtacagAGATCGAGACCCGACGC chrX:153690824-Alternative-A;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Variant T agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactga GTGACAAGCCAA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAgtgacaagccaaAGATCGAGACCCGACGC chrX:153690824-Variant-T;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative A agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactga AGCAGGCCTAAG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAagcaggcctaagAGATCGAGACCCGACGC chrX:153690824-Alternative-A;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Reference C agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactga GGCTGTAACCGT CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAggctgtaaccgtAGATCGAGACCCGACGC chrX:153690824-Reference-C;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative A agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGAGCATTGTCG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtAgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgagcattgtcgAGATCGAGACCCGACGC chrX:153690824-Alternative-A;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Reference C agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGTTCATTGGTT CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgttcattggttAGATCGAGACCCGACGC chrX:153690824-Reference-C;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Reference C agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactga GTGCGAAGTATT CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtCgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAgtgcgaagtattAGATCGAGACCCGACGC chrX:153690824-Reference-C;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Variant T agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactga CTAGTAGATTCG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAActagtagattcgAGATCGAGACCCGACGC chrX:153690824-Variant-T;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative G agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactga ACGCCGCGATTA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAacgccgcgattaAGATCGAGACCCGACGC chrX:153690824-Alternative-G;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative G agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactga CGTTCATTCTGA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcgttcattctgaAGATCGAGACCCGACGC chrX:153690824-Alternative-G;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative G agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactga CTACGTTACGTT CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAActacgttacgttAGATCGAGACCCGACGC chrX:153690824-Alternative-G;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative G agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactga ACGCTATGATCA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAacgctatgatcaAGATCGAGACCCGACGC chrX:153690824-Alternative-G;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Alternative G agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactga CTAAGTCAACAC CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtGgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAActaagtcaacacAGATCGAGACCCGACGC chrX:153690824-Alternative-G;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Variant T agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactga GGTAGTTGATGA CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAggtagttgatgaAGATCGAGACCCGACGC chrX:153690824-Variant-T;Patient-101 chrX:153690824-CT DeNovo Patient-101 intronic PLXNA3 4.7e-05 0.000247451 0.06 3.58 -0.27 PLXNA3 4200 Variant T agggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactga CACTATCTAAGG CGACGCGGTCTCTCTCTagggagatttccctggctgggtcccaggcgcctggccctgctcctcgggtTgccccttggccgcccaccctcaccattgccagttcccactgtggactgaAGAGGGAGACGGACGTCTCAATAAcactatctaaggAGATCGAGACCCGACGC chrX:153690824-Variant-T;Patient-101 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Variant C ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtc GCGATGCTAAGG CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAgcgatgctaaggAGATCGAGACCCGACGC chrX:154040263-Variant-C;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Variant C ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtc GTCTCGAAGTCG CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAgtctcgaagtcgAGATCGAGACCCGACGC chrX:154040263-Variant-C;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Variant C ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtc AGCAATCGAGTT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAagcaatcgagttAGATCGAGACCCGACGC chrX:154040263-Variant-C;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative A ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtc CGTCGAATTAAG CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAcgtcgaattaagAGATCGAGACCCGACGC chrX:154040263-Alternative-A;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative A ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtc CGGATATACGAT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAcggatatacgatAGATCGAGACCCGACGC chrX:154040263-Alternative-A;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative A ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtc AGGCCAACAATA CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAaggccaacaataAGATCGAGACCCGACGC chrX:154040263-Alternative-A;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative A ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtc ACTGTGCGTGCT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAactgtgcgtgctAGATCGAGACCCGACGC chrX:154040263-Alternative-A;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative A ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtc CAGCGTTGCATC CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaAaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAcagcgttgcatcAGATCGAGACCCGACGC chrX:154040263-Alternative-A;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Reference T ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtc ACACATTACCAC CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAacacattaccacAGATCGAGACCCGACGC chrX:154040263-Reference-T;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Reference T ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtc CTGGTGTCTTCG CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAActggtgtcttcgAGATCGAGACCCGACGC chrX:154040263-Reference-T;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Reference T ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtc ACAAGCTACGAA CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAacaagctacgaaAGATCGAGACCCGACGC chrX:154040263-Reference-T;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Reference T ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtc CAGGATAGAGCT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAcaggatagagctAGATCGAGACCCGACGC chrX:154040263-Reference-T;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Reference T ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtc CGACGCATGAGA CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaTaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAcgacgcatgagaAGATCGAGACCCGACGC chrX:154040263-Reference-T;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative G ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtc ACTAAGCGAGCA CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAactaagcgagcaAGATCGAGACCCGACGC chrX:154040263-Alternative-G;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative G ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtc GTACTTGGTCAA CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAgtacttggtcaaAGATCGAGACCCGACGC chrX:154040263-Alternative-G;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative G ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtc CTGTGTTCGCAC CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAActgtgttcgcacAGATCGAGACCCGACGC chrX:154040263-Alternative-G;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative G ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtc GTTGATTAGCGT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAgttgattagcgtAGATCGAGACCCGACGC chrX:154040263-Alternative-G;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Alternative G ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtc ACTCCGTCAGCT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaGaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAactccgtcagctAGATCGAGACCCGACGC chrX:154040263-Alternative-G;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Variant C ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtc GGTGTTATCGGC CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAggtgttatcggcAGATCGAGACCCGACGC chrX:154040263-Variant-C;Patient-30 chrX:154040263-TC Inherited Patient-30 intergenic 0.000551 0.00359 NA NA NA DKC1 49231 Variant C ttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtc GGCTCCAGTAGT CGACGCGGTCTCTCTCTttatctatggatatattattgtctttgtagaatatttaaaaatctacagaCaaattattaaaattaataaatgctattactaaggttgttagctacagtcAGAGGGAGACGGACGTCTCAATAAggctccagtagtAGATCGAGACCCGACGC chrX:154040263-Variant-C;Patient-30 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative A ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt GTAAGGAGACAC CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAgtaaggagacacAGATCGAGACCCGACGC chrX:15915915-Alternative-A;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Variant C ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt ATTCACAGCACA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAattcacagcacaAGATCGAGACCCGACGC chrX:15915915-Variant-C;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Reference T ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt CGAATTAAGCGA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAcgaattaagcgaAGATCGAGACCCGACGC chrX:15915915-Reference-T;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative A ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AAGACCTCGGAT CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaagacctcggatAGATCGAGACCCGACGC chrX:15915915-Alternative-A;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Reference T ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt CTCACATACGTC CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAActcacatacgtcAGATCGAGACCCGACGC chrX:15915915-Reference-T;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Reference T ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt CATATGGTGGAA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAcatatggtggaaAGATCGAGACCCGACGC chrX:15915915-Reference-T;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Reference T ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt GGTTGCTCTCGT CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAggttgctctcgtAGATCGAGACCCGACGC chrX:15915915-Reference-T;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Reference T ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AAGCGGTGGACA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaTgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaagcggtggacaAGATCGAGACCCGACGC chrX:15915915-Reference-T;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative A ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt ATAAGCGGCGTC CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAataagcggcgtcAGATCGAGACCCGACGC chrX:15915915-Alternative-A;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative G ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt ATTCTAACTGCG CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAattctaactgcgAGATCGAGACCCGACGC chrX:15915915-Alternative-G;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative A ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt GACCAACGGTAT CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAgaccaacggtatAGATCGAGACCCGACGC chrX:15915915-Alternative-A;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative G ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AGGCTCGTATTA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaggctcgtattaAGATCGAGACCCGACGC chrX:15915915-Alternative-G;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative A ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AACACGCTATCA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaAgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaacacgctatcaAGATCGAGACCCGACGC chrX:15915915-Alternative-A;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative G ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt ACTAGGCGTACG CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAactaggcgtacgAGATCGAGACCCGACGC chrX:15915915-Alternative-G;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Variant C ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt CGTATAATCTGG CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAcgtataatctggAGATCGAGACCCGACGC chrX:15915915-Variant-C;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Variant C ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt CATGTCGACACG CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAcatgtcgacacgAGATCGAGACCCGACGC chrX:15915915-Variant-C;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Variant C ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AGCGGAACGTGA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAagcggaacgtgaAGATCGAGACCCGACGC chrX:15915915-Variant-C;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative G ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AATCACGCTTCT CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaatcacgcttctAGATCGAGACCCGACGC chrX:15915915-Alternative-G;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Variant C ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt GTTGGTGTATGT CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaCgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAgttggtgtatgtAGATCGAGACCCGACGC chrX:15915915-Variant-C;Patient-24 chrX:15915915-TC DeNovo Patient-24 intergenic NA 0.000512821 1.01 13.36 0 AP1S2 42777 Alternative G ttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtatt AAGGTTCCAAGA CGACGCGGTCTCTCTCTttttgttgctggcttattttgcttagcataatgtccttgaggttcatccaGgttgtaacacgtgtcaatatttcctttctttttaaggctgcatagtattAGAGGGAGACGGACGTCTCAATAAaaggttccaagaAGATCGAGACCCGACGC chrX:15915915-Alternative-G;Patient-24 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Reference A gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg ACACGCACTAAT CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAacacgcactaatAGATCGAGACCCGACGC chrX:15960885-Reference-A;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Reference A gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg ACCTATGGTACA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAacctatggtacaAGATCGAGACCCGACGC chrX:15960885-Reference-A;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Variant C gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg AAGCACCACCAC CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAaagcaccaccacAGATCGAGACCCGACGC chrX:15960885-Variant-C;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative G gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg CAGCTAACTGTT CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAcagctaactgttAGATCGAGACCCGACGC chrX:15960885-Alternative-G;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative G gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg CACGTAGAATGA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAcacgtagaatgaAGATCGAGACCCGACGC chrX:15960885-Alternative-G;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative G gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GTGATATACAGG CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgtgatatacaggAGATCGAGACCCGACGC chrX:15960885-Alternative-G;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Variant C gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GTAATTAGCGCA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgtaattagcgcaAGATCGAGACCCGACGC chrX:15960885-Variant-C;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Variant C gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GTAAGCTGTCTA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgtaagctgtctaAGATCGAGACCCGACGC chrX:15960885-Variant-C;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Reference A gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg ACAACTGAGCAA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAacaactgagcaaAGATCGAGACCCGACGC chrX:15960885-Reference-A;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Variant C gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GAATTAGGATGC CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgaattaggatgcAGATCGAGACCCGACGC chrX:15960885-Variant-C;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Variant C gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg CTCGTACACAAC CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacCcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAActcgtacacaacAGATCGAGACCCGACGC chrX:15960885-Variant-C;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Reference A gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg CAGCAGCATACT CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAcagcagcatactAGATCGAGACCCGACGC chrX:15960885-Reference-A;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative G gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GACTAACGGTAA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgactaacggtaaAGATCGAGACCCGACGC chrX:15960885-Alternative-G;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Reference A gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GCGAAGTTCGCT CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacAcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgcgaagttcgctAGATCGAGACCCGACGC chrX:15960885-Reference-A;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative T gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg CGTGGAGTAATA CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAcgtggagtaataAGATCGAGACCCGACGC chrX:15960885-Alternative-T;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative T gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GTCTCGCTAAGG CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgtctcgctaaggAGATCGAGACCCGACGC chrX:15960885-Alternative-T;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative G gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GATGTGCTGTGC CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacGcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgatgtgctgtgcAGATCGAGACCCGACGC chrX:15960885-Alternative-G;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative T gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg AGTTAGACAAGG CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAagttagacaaggAGATCGAGACCCGACGC chrX:15960885-Alternative-T;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative T gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg AGACTAGGTCGC CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAagactaggtcgcAGATCGAGACCCGACGC chrX:15960885-Alternative-T;Patient-53 chrX:15960885-AC DeNovo Patient-53 intergenic 4.6e-05 0.000513 0.21 5.92 2.35 AP1S2 87747 Alternative T gggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctgg GAAGTGCTCGTT CGACGCGGTCTCTCTCTgggaagcacccttgtctaaaggtaagcagtgatgcttctaccgaggccacTcctttgtctcagcaacatgatgttgatttattcctctctctctctctggAGAGGGAGACGGACGTCTCAATAAgaagtgctcgttAGATCGAGACCCGACGC chrX:15960885-Alternative-T;Patient-53 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative C tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagt AGTAGCCTTGTT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAagtagccttgttAGATCGAGACCCGACGC chrX:18530948-Alternative-C;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative G tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagt GTTCCGTGCTGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAgttccgtgctgtAGATCGAGACCCGACGC chrX:18530948-Alternative-G;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative G tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagt CACACAACCAGG CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcacacaaccaggAGATCGAGACCCGACGC chrX:18530948-Alternative-G;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative G tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagt CTTACGGTGCGA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAActtacggtgcgaAGATCGAGACCCGACGC chrX:18530948-Alternative-G;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative G tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagt GATACGAGAACG CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAgatacgagaacgAGATCGAGACCCGACGC chrX:18530948-Alternative-G;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative C tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagt CATATTCTAGCG CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcatattctagcgAGATCGAGACCCGACGC chrX:18530948-Alternative-C;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Variant T tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagt ACAACAAGAGCT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAacaacaagagctAGATCGAGACCCGACGC chrX:18530948-Variant-T;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative G tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagt CGAGTAGGTGGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaGattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcgagtaggtggtAGATCGAGACCCGACGC chrX:18530948-Alternative-G;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative C tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagt GCCGTAGAACGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAgccgtagaacgtAGATCGAGACCCGACGC chrX:18530948-Alternative-C;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative C tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagt ATAGCGGTAAGG CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAatagcggtaaggAGATCGAGACCCGACGC chrX:18530948-Alternative-C;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Variant T tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagt GGTGCGACCTAA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAggtgcgacctaaAGATCGAGACCCGACGC chrX:18530948-Variant-T;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Alternative C tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagt CTCTTATCTCGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaCattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAActcttatctcgtAGATCGAGACCCGACGC chrX:18530948-Alternative-C;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Variant T tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagt CAGCTTGTTACA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcagcttgttacaAGATCGAGACCCGACGC chrX:18530948-Variant-T;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Variant T tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagt CTAATACGTGCA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAActaatacgtgcaAGATCGAGACCCGACGC chrX:18530948-Variant-T;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Reference A tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagt GCATCGCGTGAA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAgcatcgcgtgaaAGATCGAGACCCGACGC chrX:18530948-Reference-A;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Reference A tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagt GACAAGCAACCT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAgacaagcaacctAGATCGAGACCCGACGC chrX:18530948-Reference-A;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Variant T tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagt CATCAACTGCGG CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaTattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcatcaactgcggAGATCGAGACCCGACGC chrX:18530948-Variant-T;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Reference A tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagt ATCATGTGGAGA CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAatcatgtggagaAGATCGAGACCCGACGC chrX:18530948-Reference-A;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Reference A tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagt CATGTTCCTAGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAcatgttcctagtAGATCGAGACCCGACGC chrX:18530948-Reference-A;Patient-91 chrX:18530948-AT Inherited Patient-91 intronic CDKL5 0.000187 4.63e-05 0.06 3.65 -0.5 CDKL5 87222 Reference A tatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagt ACATCAGAGCGT CGACGCGGTCTCTCTCTtatacttttaatgacttgcctttagttataagtttctgaagcttaaaaaaAattcctgggtggatattacttgggagaaataggttattagtttctaagtAGAGGGAGACGGACGTCTCAATAAacatcagagcgtAGATCGAGACCCGACGC chrX:18530948-Reference-A;Patient-91 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative G tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GGAGGACACCAT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAggaggacaccatAGATCGAGACCCGACGC chrX:18940548-Alternative-G;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative G tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GTTAACGCCAAG CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAgttaacgccaagAGATCGAGACCCGACGC chrX:18940548-Alternative-G;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative G tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta ACGTTATCGTGA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAacgttatcgtgaAGATCGAGACCCGACGC chrX:18940548-Alternative-G;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Variant T tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GGACGATCAATC CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAggacgatcaatcAGATCGAGACCCGACGC chrX:18940548-Variant-T;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative G tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GATCAGTTGGAA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAgatcagttggaaAGATCGAGACCCGACGC chrX:18940548-Alternative-G;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative G tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta ATAACAGCAGCA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtGtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAataacagcagcaAGATCGAGACCCGACGC chrX:18940548-Alternative-G;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Variant T tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta ATTACGGATTCG CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAattacggattcgAGATCGAGACCCGACGC chrX:18940548-Variant-T;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Variant T tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta CGGATCGAACGT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAcggatcgaacgtAGATCGAGACCCGACGC chrX:18940548-Variant-T;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Reference C tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GCGTTCTCCGAT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAgcgttctccgatAGATCGAGACCCGACGC chrX:18940548-Reference-C;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative A tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GTAACACAACCG CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAgtaacacaaccgAGATCGAGACCCGACGC chrX:18940548-Alternative-A;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Variant T tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta GAGATCCTGCGT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAgagatcctgcgtAGATCGAGACCCGACGC chrX:18940548-Variant-T;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Variant T tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta ATCCGAGTGGTT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtTtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAatccgagtggttAGATCGAGACCCGACGC chrX:18940548-Variant-T;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative A tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta ATCTGGTCTGTT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAatctggtctgttAGATCGAGACCCGACGC chrX:18940548-Alternative-A;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative A tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta CGGTGGTAGTCA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAcggtggtagtcaAGATCGAGACCCGACGC chrX:18940548-Alternative-A;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative A tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta CGTGCGTGTGTT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAcgtgcgtgtgttAGATCGAGACCCGACGC chrX:18940548-Alternative-A;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Alternative A tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta CATTGTAACGCA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtAtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAcattgtaacgcaAGATCGAGACCCGACGC chrX:18940548-Alternative-A;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Reference C tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta AGGAGGTTGCGT CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAaggaggttgcgtAGATCGAGACCCGACGC chrX:18940548-Reference-C;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Reference C tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta CGCGTTCTGCAA CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAcgcgttctgcaaAGATCGAGACCCGACGC chrX:18940548-Reference-C;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Reference C tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta AAGGTTACTACC CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAaaggttactaccAGATCGAGACCCGACGC chrX:18940548-Reference-C;Patient-37 chrX:18940548-CT DeNovo Patient-37 intronic PHKA2 0.000232 4.95e-05 -0.03 2.24 0.7 PHKA2 61931 Reference C tggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtcta AGTGCCGTTAAC CGACGCGGTCTCTCTCTtggtatggcactagtcctgaaagtgtatacagcaaaacactggggacagtCtcgcgagaaaggccaggagaagcttggatcaagggccacttcaagtctaAGAGGGAGACGGACGTCTCAATAAagtgccgttaacAGATCGAGACCCGACGC chrX:18940548-Reference-C;Patient-37 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative G gctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataata GTAATAAGTCGG CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgtaataagtcggAGATCGAGACCCGACGC chrX:20172934-Alternative-G;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative G gctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataata CGCCTTAGCCTA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAcgccttagcctaAGATCGAGACCCGACGC chrX:20172934-Alternative-G;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Variant T gctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataata CGGACTTCGACT CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAcggacttcgactAGATCGAGACCCGACGC chrX:20172934-Variant-T;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Reference C gctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataata CACGGATCATTA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAcacggatcattaAGATCGAGACCCGACGC chrX:20172934-Reference-C;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative G gctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataata CAGCTGTGTCGA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAcagctgtgtcgaAGATCGAGACCCGACGC chrX:20172934-Alternative-G;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Variant T gctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataata CGTCTACGACGA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAcgtctacgacgaAGATCGAGACCCGACGC chrX:20172934-Variant-T;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Reference C gctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataata AAGCGGTCACCA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAaagcggtcaccaAGATCGAGACCCGACGC chrX:20172934-Reference-C;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Variant T gctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataata ATCTGGTCGTGG CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAatctggtcgtggAGATCGAGACCCGACGC chrX:20172934-Variant-T;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative A gctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataata GAGCTAACAACG CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgagctaacaacgAGATCGAGACCCGACGC chrX:20172934-Alternative-A;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative G gctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataata GTTCGACACGAC CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgttcgacacgacAGATCGAGACCCGACGC chrX:20172934-Alternative-G;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative G gctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataata GATGCTTGTCTT CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatGcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgatgcttgtcttAGATCGAGACCCGACGC chrX:20172934-Alternative-G;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Variant T gctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataata AATCACGTCAGT CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAaatcacgtcagtAGATCGAGACCCGACGC chrX:20172934-Variant-T;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Reference C gctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataata GTTATCAGCCAA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgttatcagccaaAGATCGAGACCCGACGC chrX:20172934-Reference-C;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Reference C gctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataata ATTCCGTCATAC CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAattccgtcatacAGATCGAGACCCGACGC chrX:20172934-Reference-C;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative A gctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataata ACGCTCAAGTTA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAacgctcaagttaAGATCGAGACCCGACGC chrX:20172934-Alternative-A;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Reference C gctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataata GATGGCGCCTAA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatCcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgatggcgcctaaAGATCGAGACCCGACGC chrX:20172934-Reference-C;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative A gctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataata ATCCTGTTATGC CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAatcctgttatgcAGATCGAGACCCGACGC chrX:20172934-Alternative-A;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative A gctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataata CTCTCGATCGCA CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAActctcgatcgcaAGATCGAGACCCGACGC chrX:20172934-Alternative-A;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Variant T gctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataata GCGTCTACGAAG CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatTcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgcgtctacgaagAGATCGAGACCCGACGC chrX:20172934-Variant-T;Patient-58 chrX:20172934-CT Inherited Patient-58 3 prime UTR RPS6KA3 NA 0.000302 1.43 15.49 5.06 EIF1AX 12967 Alternative A gctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataata GACCGTGTAGTC CGACGCGGTCTCTCTCTgctgttccacaatctggccatttttaggactgtccaacaatactgttaatAcaggtgaactatttaaccagatttaatagtcaattgattaataataataAGAGGGAGACGGACGTCTCAATAAgaccgtgtagtcAGATCGAGACCCGACGC chrX:20172934-Alternative-A;Patient-58 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative G gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GTTGGACCTCTT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgttggacctcttAGATCGAGACCCGACGC chrX:20195719-Alternative-G;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative A gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ACGATCAATCGA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAacgatcaatcgaAGATCGAGACCCGACGC chrX:20195719-Alternative-A;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Variant C gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GACGTACTTAAC CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgacgtacttaacAGATCGAGACCCGACGC chrX:20195719-Variant-C;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative G gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GGCTAGCTTACA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAggctagcttacaAGATCGAGACCCGACGC chrX:20195719-Alternative-G;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Reference T gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GTTACGAGGCGA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgttacgaggcgaAGATCGAGACCCGACGC chrX:20195719-Reference-T;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative G gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GTGAACGGCAGT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgtgaacggcagtAGATCGAGACCCGACGC chrX:20195719-Alternative-G;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Reference T gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GTACCTACCGAC CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgtacctaccgacAGATCGAGACCCGACGC chrX:20195719-Reference-T;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative A gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa CTGTCATGTTGT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAActgtcatgttgtAGATCGAGACCCGACGC chrX:20195719-Alternative-A;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative G gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GATGCGTGAATA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgatgcgtgaataAGATCGAGACCCGACGC chrX:20195719-Alternative-G;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Variant C gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa AGTGCTCTCGCT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAagtgctctcgctAGATCGAGACCCGACGC chrX:20195719-Variant-C;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Variant C gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GGCGGATCATCA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAggcggatcatcaAGATCGAGACCCGACGC chrX:20195719-Variant-C;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Reference T gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ACAAGGTACCGC CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAacaaggtaccgcAGATCGAGACCCGACGC chrX:20195719-Reference-T;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative G gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ATACGGACGCGA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaGttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAatacggacgcgaAGATCGAGACCCGACGC chrX:20195719-Alternative-G;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative A gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa AGTCGAGTGAAT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAagtcgagtgaatAGATCGAGACCCGACGC chrX:20195719-Alternative-A;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Reference T gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GGATGACTATGA CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAggatgactatgaAGATCGAGACCCGACGC chrX:20195719-Reference-T;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Variant C gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ACTATACGTTCG CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAactatacgttcgAGATCGAGACCCGACGC chrX:20195719-Variant-C;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative A gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GCCTTAAGAATC CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgccttaagaatcAGATCGAGACCCGACGC chrX:20195719-Alternative-A;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Reference T gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ACCGAGATGCGT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaTttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAaccgagatgcgtAGATCGAGACCCGACGC chrX:20195719-Reference-T;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Alternative A gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa ATCGCGAATACT CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaAttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAatcgcgaatactAGATCGAGACCCGACGC chrX:20195719-Alternative-A;Patient-39 chrX:20195719-TC DeNovo Patient-39 intronic RPS6KA3 4.5e-05 4.19e-05 0.27 6.79 0.48 EIF1AX 35752 Variant C gctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaa GAGCATCAACGG CGACGCGGTCTCTCTCTgctttttcatttttcaaaattttgcaaagagcactgtgaaagtaagatcaCttgaatcctagttctggctctgttactaagaactttgtgacagtgggaaAGAGGGAGACGGACGTCTCAATAAgagcatcaacggAGATCGAGACCCGACGC chrX:20195719-Variant-C;Patient-39 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative C agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CATGCGCTATAA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcatgcgctataaAGATCGAGACCCGACGC chrX:20295859-Alternative-C;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative C agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CATCGGTAGACG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcatcggtagacgAGATCGAGACCCGACGC chrX:20295859-Alternative-C;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative C agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CGTCCATTGCGT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcgtccattgcgtAGATCGAGACCCGACGC chrX:20295859-Alternative-C;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative C agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CGTGTGTCTGAG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcgtgtgtctgagAGATCGAGACCCGACGC chrX:20295859-Alternative-C;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Reference T agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CTTAGATAGTCG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAActtagatagtcgAGATCGAGACCCGACGC chrX:20295859-Reference-T;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Variant A agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GAGAGCTGAACC CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAgagagctgaaccAGATCGAGACCCGACGC chrX:20295859-Variant-A;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative G agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CGTAGCCTTAGG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcgtagccttaggAGATCGAGACCCGACGC chrX:20295859-Alternative-G;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Reference T agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CGTGTTGTCTTA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcgtgttgtcttaAGATCGAGACCCGACGC chrX:20295859-Reference-T;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Reference T agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa ACTTGACGCGAC CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAacttgacgcgacAGATCGAGACCCGACGC chrX:20295859-Reference-T;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative G agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GGAACGAGATGG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAggaacgagatggAGATCGAGACCCGACGC chrX:20295859-Alternative-G;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative G agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa AAGGCTGTGCGA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAaaggctgtgcgaAGATCGAGACCCGACGC chrX:20295859-Alternative-G;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Variant A agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa ACGCAGTAGCGA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAacgcagtagcgaAGATCGAGACCCGACGC chrX:20295859-Variant-A;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Reference T agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GTGTTGTCGTGG CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAgtgttgtcgtggAGATCGAGACCCGACGC chrX:20295859-Reference-T;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Variant A agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GTAATTCGGACA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAgtaattcggacaAGATCGAGACCCGACGC chrX:20295859-Variant-A;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative G agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GTCGCACAAGGT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAgtcgcacaaggtAGATCGAGACCCGACGC chrX:20295859-Alternative-G;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Reference T agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GGCGGTAAGGTT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaTaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAggcggtaaggttAGATCGAGACCCGACGC chrX:20295859-Reference-T;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative C agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CTTACGGCGTCA CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaCaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAActtacggcgtcaAGATCGAGACCCGACGC chrX:20295859-Alternative-C;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Variant A agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa AATCTCGGACAT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAaatctcggacatAGATCGAGACCCGACGC chrX:20295859-Variant-A;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Alternative G agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa GACGCTTATCTT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaGaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAgacgcttatcttAGATCGAGACCCGACGC chrX:20295859-Alternative-G;Patient-96 chrX:20295859-TA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.32 7.44 0.12 RPS6KA3 11108 Variant A agttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaa CAACCGGTAACT CGACGCGGTCTCTCTCTagttctggccagggcaatgaggcaagagacagaaataaagcatattcaaaAaggaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaAGAGGGAGACGGACGTCTCAATAAcaaccggtaactAGATCGAGACCCGACGC chrX:20295859-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Reference G ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GTACGTAATGCA CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgtacgtaatgcaAGATCGAGACCCGACGC chrX:20295861-Reference-G;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative C ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GTCAACGGCCAT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgtcaacggccatAGATCGAGACCCGACGC chrX:20295861-Alternative-C;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative C ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc ACTTGAGTCGCG CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAacttgagtcgcgAGATCGAGACCCGACGC chrX:20295861-Alternative-C;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Reference G ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CGCCACATCACT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAcgccacatcactAGATCGAGACCCGACGC chrX:20295861-Reference-G;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Variant A ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GATGTTGGCGTC CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgatgttggcgtcAGATCGAGACCCGACGC chrX:20295861-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Reference G ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CTATCGACGCAG CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAActatcgacgcagAGATCGAGACCCGACGC chrX:20295861-Reference-G;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Reference G ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GTACGAATATCG CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgtacgaatatcgAGATCGAGACCCGACGC chrX:20295861-Reference-G;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Variant A ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc AGATATATGCGC CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAagatatatgcgcAGATCGAGACCCGACGC chrX:20295861-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative T ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GGCAGTTAGCGA CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAggcagttagcgaAGATCGAGACCCGACGC chrX:20295861-Alternative-T;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative T ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CGATCTTAGGAT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAcgatcttaggatAGATCGAGACCCGACGC chrX:20295861-Alternative-T;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative T ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CATGAGGTGCGA CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAcatgaggtgcgaAGATCGAGACCCGACGC chrX:20295861-Alternative-T;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Variant A ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GATGTGGTTCAT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgatgtggttcatAGATCGAGACCCGACGC chrX:20295861-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative T ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc ACACAATAAGCG CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAacacaataagcgAGATCGAGACCCGACGC chrX:20295861-Alternative-T;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative C ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GGAGATAGCATC CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAggagatagcatcAGATCGAGACCCGACGC chrX:20295861-Alternative-C;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Variant A ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GACCTAGATTGA CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgacctagattgaAGATCGAGACCCGACGC chrX:20295861-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Reference G ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CTCTAACCGAAT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataGgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAActctaaccgaatAGATCGAGACCCGACGC chrX:20295861-Reference-G;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative T ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc ACATGTTGGCTT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataTgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAacatgttggcttAGATCGAGACCCGACGC chrX:20295861-Alternative-T;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Variant A ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GATACGTTACAC CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataAgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgatacgttacacAGATCGAGACCCGACGC chrX:20295861-Variant-A;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative C ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc CGTTGATTCCAT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAcgttgattccatAGATCGAGACCCGACGC chrX:20295861-Alternative-C;Patient-96 chrX:20295861-GA DeNovo Patient-96 intergenic 4.6e-05 0.001 0.23 6.31 0.12 RPS6KA3 11110 Alternative C ttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaacc GAGGTGGAGAGT CGACGCGGTCTCTCTCTttctggccagggcaatgaggcaagagacagaaataaagcatattcaaataCgaagagaggaagtcaaatgatctctgtttgcatgtatatttagaaaaccAGAGGGAGACGGACGTCTCAATAAgaggtggagagtAGATCGAGACCCGACGC chrX:20295861-Alternative-C;Patient-96 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Variant T ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctg AGTCGGAGAATC CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAagtcggagaatcAGATCGAGACCCGACGC chrX:20312917-Variant-T;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative G ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctg AAGGTGGTATGG CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAaaggtggtatggAGATCGAGACCCGACGC chrX:20312917-Alternative-G;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative G ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctg GTGTTCCTAGTT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgtgttcctagttAGATCGAGACCCGACGC chrX:20312917-Alternative-G;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative G ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctg CTCATAAGATGC CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAActcataagatgcAGATCGAGACCCGACGC chrX:20312917-Alternative-G;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative G ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctg GAGGTGAGTCAC CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgaggtgagtcacAGATCGAGACCCGACGC chrX:20312917-Alternative-G;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Variant T ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctg CTTGTCGGCGTT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAActtgtcggcgttAGATCGAGACCCGACGC chrX:20312917-Variant-T;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Variant T ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctg GTGAATCGAGCG CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgtgaatcgagcgAGATCGAGACCCGACGC chrX:20312917-Variant-T;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Variant T ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctg ACGTCAGGCAGT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAacgtcaggcagtAGATCGAGACCCGACGC chrX:20312917-Variant-T;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative G ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctg GTGAGGTTAGAA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaGattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgtgaggttagaaAGATCGAGACCCGACGC chrX:20312917-Alternative-G;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Variant T ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctg ATTGTAACGCGA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaTattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAattgtaacgcgaAGATCGAGACCCGACGC chrX:20312917-Variant-T;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative A ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctg GATTCGAAGGAT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgattcgaaggatAGATCGAGACCCGACGC chrX:20312917-Alternative-A;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Reference C ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctg GCCTTAATGCTA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAgccttaatgctaAGATCGAGACCCGACGC chrX:20312917-Reference-C;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative A ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctg ATTGGCGACAGG CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAattggcgacaggAGATCGAGACCCGACGC chrX:20312917-Alternative-A;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative A ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctg CTTGACGCACGA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAActtgacgcacgaAGATCGAGACCCGACGC chrX:20312917-Alternative-A;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative A ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctg AGAGTACCGTTA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAagagtaccgttaAGATCGAGACCCGACGC chrX:20312917-Alternative-A;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Reference C ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctg ATCTGTCGTAAG CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAatctgtcgtaagAGATCGAGACCCGACGC chrX:20312917-Reference-C;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Reference C ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctg CGAATAACGGAT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAcgaataacggatAGATCGAGACCCGACGC chrX:20312917-Reference-C;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Alternative A ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctg GGTCGGCTATCA CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaAattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAggtcggctatcaAGATCGAGACCCGACGC chrX:20312917-Alternative-A;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Reference C ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctg CAGTCGAACTAT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAcagtcgaactatAGATCGAGACCCGACGC chrX:20312917-Reference-C;Patient-12 chrX:20312917-CT DeNovo Patient-12 intergenic NA 0.000513 NA NA NA RPS6KA3 28166 Reference C ctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctg ACTTCAACCGAT CGACGCGGTCTCTCTCTctggatgggtcctgtatatcttcttgaattttattagtttccatcagagaCattgccttctttctgacttttgcctgattgacccagttcttggcttctgAGAGGGAGACGGACGTCTCAATAAacttcaaccgatAGATCGAGACCCGACGC chrX:20312917-Reference-C;Patient-12 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Variant G aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CTAGATGATCGT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAActagatgatcgtAGATCGAGACCCGACGC chrX:24263819-Variant-G;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Variant G aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GGTGAATGGTCG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAggtgaatggtcgAGATCGAGACCCGACGC chrX:24263819-Variant-G;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Variant G aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag ACCGGATGATAA CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAaccggatgataaAGATCGAGACCCGACGC chrX:24263819-Variant-G;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative C aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag ACGGTGTACTAT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAacggtgtactatAGATCGAGACCCGACGC chrX:24263819-Alternative-C;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative C aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GCATGGTTGATT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAgcatggttgattAGATCGAGACCCGACGC chrX:24263819-Alternative-C;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Reference T aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CGCCAGCTAGAT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAcgccagctagatAGATCGAGACCCGACGC chrX:24263819-Reference-T;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative A aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CGTGTCTGGTCT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAcgtgtctggtctAGATCGAGACCCGACGC chrX:24263819-Alternative-A;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative A aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag ACCGTAAGGTGG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAaccgtaaggtggAGATCGAGACCCGACGC chrX:24263819-Alternative-A;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative C aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag AGACCTCGATGC CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAagacctcgatgcAGATCGAGACCCGACGC chrX:24263819-Alternative-C;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative A aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GCGCACCGAATA CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAgcgcaccgaataAGATCGAGACCCGACGC chrX:24263819-Alternative-A;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative A aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag AGAATGGTGGAC CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAagaatggtggacAGATCGAGACCCGACGC chrX:24263819-Alternative-A;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Reference T aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CTCGGTAACACG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAActcggtaacacgAGATCGAGACCCGACGC chrX:24263819-Reference-T;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Variant G aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CTGTGTTGCGAG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAActgtgttgcgagAGATCGAGACCCGACGC chrX:24263819-Variant-G;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative A aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag AGACTATCTGCG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtAgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAagactatctgcgAGATCGAGACCCGACGC chrX:24263819-Alternative-A;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Variant G aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CTGTCGTCTACG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtGgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAActgtcgtctacgAGATCGAGACCCGACGC chrX:24263819-Variant-G;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Reference T aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GGCGTCGTTAAG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAggcgtcgttaagAGATCGAGACCCGACGC chrX:24263819-Reference-T;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative C aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GCGTGTCTGAGA CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAgcgtgtctgagaAGATCGAGACCCGACGC chrX:24263819-Alternative-C;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Reference T aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag GACGTCTACGGT CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAgacgtctacggtAGATCGAGACCCGACGC chrX:24263819-Reference-T;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Reference T aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag AAGGTGTTGCAC CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtTgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAAaaggtgttgcacAGATCGAGACCCGACGC chrX:24263819-Reference-T;Patient-77 chrX:24263819-TG DeNovo Patient-77 intergenic 0.00041 0.00359 NA NA NA ZFX 96056 Alternative C aaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaag CTCACGGATAAG CGACGCGGTCTCTCTCTaaaactgatgggctgtagttgtaagattgcaacatgcattttagatttgtCgaagtctaatgttaactggcatttttgcctacttcccagacaatgcaagAGAGGGAGACGGACGTCTCAATAActcacggataagAGATCGAGACCCGACGC chrX:24263819-Alternative-C;Patient-77 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Variant C acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc GTCGTCCTAGCT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAgtcgtcctagctAGATCGAGACCCGACGC chrX:24983992-Variant-C;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Variant C acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CTTGAGCGCCAA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAActtgagcgccaaAGATCGAGACCCGACGC chrX:24983992-Variant-C;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Variant C acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc GCCGGTGAACAT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAgccggtgaacatAGATCGAGACCCGACGC chrX:24983992-Variant-C;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Variant C acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CTAGCTATCACG CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAActagctatcacgAGATCGAGACCCGACGC chrX:24983992-Variant-C;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Variant C acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc ACGCGTACACCT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccCctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAacgcgtacacctAGATCGAGACCCGACGC chrX:24983992-Variant-C;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative A acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CATTGATCGAGA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAcattgatcgagaAGATCGAGACCCGACGC chrX:24983992-Alternative-A;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative A acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc ATAGCGGACGCA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAatagcggacgcaAGATCGAGACCCGACGC chrX:24983992-Alternative-A;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative A acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc AGCTCGACTCTT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAagctcgactcttAGATCGAGACCCGACGC chrX:24983992-Alternative-A;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative G acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc AATCGCTGACAT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAaatcgctgacatAGATCGAGACCCGACGC chrX:24983992-Alternative-G;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Reference T acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc GTAATTACGACC CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAgtaattacgaccAGATCGAGACCCGACGC chrX:24983992-Reference-T;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative G acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CATTCGACAGCG CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAcattcgacagcgAGATCGAGACCCGACGC chrX:24983992-Alternative-G;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Reference T acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CTGCGATAACAC CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAActgcgataacacAGATCGAGACCCGACGC chrX:24983992-Reference-T;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative A acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc AGAACCTAACCA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAagaacctaaccaAGATCGAGACCCGACGC chrX:24983992-Alternative-A;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative G acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CTGGTTACTGAT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAActggttactgatAGATCGAGACCCGACGC chrX:24983992-Alternative-G;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative G acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc GGAACAACGATT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAggaacaacgattAGATCGAGACCCGACGC chrX:24983992-Alternative-G;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative A acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CTGCTTCATTGA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccActcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAActgcttcattgaAGATCGAGACCCGACGC chrX:24983992-Alternative-A;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Alternative G acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc CAGCAAGAGAGT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccGctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAcagcaagagagtAGATCGAGACCCGACGC chrX:24983992-Alternative-G;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Reference T acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc GCATGATGATGA CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAgcatgatgatgaAGATCGAGACCCGACGC chrX:24983992-Reference-T;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Reference T acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc ACGCTCGGTAGT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAacgctcggtagtAGATCGAGACCCGACGC chrX:24983992-Reference-T;Patient-54 chrX:24983992-TC DeNovo Patient-54 intronic POLA1 NA 9.9e-05 0.35 7.81 4.07 ARX 50072 Reference T acttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatc AGGCGGTACAGT CGACGCGGTCTCTCTCTacttgtatgtttttgcagcttttttcatagttttcaaagttgtggaacccTctcctggtgttaagaacctgcttcggttcttaaaataaacaaaggtatcAGAGGGAGACGGACGTCTCAATAAaggcggtacagtAGATCGAGACCCGACGC chrX:24983992-Reference-T;Patient-54 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative C atctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GGCTGAAGACGT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAggctgaagacgtAGATCGAGACCCGACGC chrX:25115680-Alternative-C;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative C atctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CGGCTAGTATAT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcggctagtatatAGATCGAGACCCGACGC chrX:25115680-Alternative-C;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative C atctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CTCGTTAATTGC CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAActcgttaattgcAGATCGAGACCCGACGC chrX:25115680-Alternative-C;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative C atctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacattt ATAGCCGGATTA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAatagccggattaAGATCGAGACCCGACGC chrX:25115680-Alternative-C;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative C atctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CAAGCCGTGTGA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataCttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcaagccgtgtgaAGATCGAGACCCGACGC chrX:25115680-Alternative-C;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Variant A atctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacattt ATAGCATGGCTT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAatagcatggcttAGATCGAGACCCGACGC chrX:25115680-Variant-A;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Reference G atctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GTGTCCGAATCA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAgtgtccgaatcaAGATCGAGACCCGACGC chrX:25115680-Reference-G;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Variant A atctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GATTCTCGACGG CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAgattctcgacggAGATCGAGACCCGACGC chrX:25115680-Variant-A;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Variant A atctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CAGGCTTAACAC CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcaggcttaacacAGATCGAGACCCGACGC chrX:25115680-Variant-A;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Variant A atctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CGGTACTGAACG CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcggtactgaacgAGATCGAGACCCGACGC chrX:25115680-Variant-A;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Reference G atctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CGTGTCGGCAAT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcgtgtcggcaatAGATCGAGACCCGACGC chrX:25115680-Reference-G;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Reference G atctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GCGCTCATGACA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAgcgctcatgacaAGATCGAGACCCGACGC chrX:25115680-Reference-G;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative T atctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GGCTGTCCTATC CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAggctgtcctatcAGATCGAGACCCGACGC chrX:25115680-Alternative-T;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Reference G atctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GTGACGATTCAT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAgtgacgattcatAGATCGAGACCCGACGC chrX:25115680-Reference-G;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Reference G atctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CGACGAGATAAT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataGttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcgacgagataatAGATCGAGACCCGACGC chrX:25115680-Reference-G;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative T atctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacattt AGGCCATTGTAA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAaggccattgtaaAGATCGAGACCCGACGC chrX:25115680-Alternative-T;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative T atctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacattt GCGTAATGACTA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAgcgtaatgactaAGATCGAGACCCGACGC chrX:25115680-Alternative-T;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Variant A atctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CAGCTACTGGCA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataAttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcagctactggcaAGATCGAGACCCGACGC chrX:25115680-Variant-A;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative T atctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacattt ACTGGTATGGTT CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAactggtatggttAGATCGAGACCCGACGC chrX:25115680-Alternative-T;Patient-93 chrX:25115680-GA Inherited Patient-93 intergenic 0.00074 0.001025641 0.17 5.32 -0.45 ARX 81614 Alternative T atctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacattt CGAAGATCGCGA CGACGCGGTCTCTCTCTatctatatgtcattattcagtgaaaataatcacagttccttggagatataTttaatcacagagctggagcaagaaaatatacgattagcctggaacatttAGAGGGAGACGGACGTCTCAATAAcgaagatcgcgaAGATCGAGACCCGACGC chrX:25115680-Alternative-T;Patient-93 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Reference G gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GTTGAGGAGTAT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgttgaggagtatAGATCGAGACCCGACGC chrX:294692-Reference-G;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Reference G gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GTTAGAATGTGG CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgttagaatgtggAGATCGAGACCCGACGC chrX:294692-Reference-G;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative T gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt AGGCAAGCTACC CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAaggcaagctaccAGATCGAGACCCGACGC chrX:294692-Alternative-T;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative C gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GTAGCCATATAC CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgtagccatatacAGATCGAGACCCGACGC chrX:294692-Alternative-C;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative T gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GATAATGGCGAT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgataatggcgatAGATCGAGACCCGACGC chrX:294692-Alternative-T;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Reference G gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt ACCGAGATAACA CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAaccgagataacaAGATCGAGACCCGACGC chrX:294692-Reference-G;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Variant A gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GATGATATGCCT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgatgatatgcctAGATCGAGACCCGACGC chrX:294692-Variant-A;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative T gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt AGCACCACCTGA CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAagcaccacctgaAGATCGAGACCCGACGC chrX:294692-Alternative-T;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Variant A gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt ACATAAGCATCG CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAacataagcatcgAGATCGAGACCCGACGC chrX:294692-Variant-A;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Variant A gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt CAGAGATCAACG CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAcagagatcaacgAGATCGAGACCCGACGC chrX:294692-Variant-A;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative C gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GGTATCGGTATT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAggtatcggtattAGATCGAGACCCGACGC chrX:294692-Alternative-C;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Reference G gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt CTCTATTACGGT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAActctattacggtAGATCGAGACCCGACGC chrX:294692-Reference-G;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative T gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GCCAATAGTGAA CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgccaatagtgaaAGATCGAGACCCGACGC chrX:294692-Alternative-T;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Reference G gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt ACGGTACAAGTT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcGccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAacggtacaagttAGATCGAGACCCGACGC chrX:294692-Reference-G;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative T gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GAGCTCAATCAT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcTccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgagctcaatcatAGATCGAGACCCGACGC chrX:294692-Alternative-T;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative C gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GATTGAAGACGT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAgattgaagacgtAGATCGAGACCCGACGC chrX:294692-Alternative-C;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative C gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt CTGGTGTCGAGT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAActggtgtcgagtAGATCGAGACCCGACGC chrX:294692-Alternative-C;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Variant A gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt GGTCATTAGGTT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAggtcattaggttAGATCGAGACCCGACGC chrX:294692-Variant-A;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Variant A gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt ATACGTCCAGCT CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcAccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAatacgtccagctAGATCGAGACCCGACGC chrX:294692-Variant-A;Patient-54 chrX:294692-GA Inherited Patient-54 3 prime UTR PPP2R3B 9.6e-05 0.00016 -0.01 2.43 -0.59 PPP2R3B 52997 Alternative C gagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggt ACGCGAACATAA CGACGCGGTCTCTCTCTgagggagccgagcccgtgactgaaaatcctccaaacgtacaagcgtgatcCccagaaacggttttgtacgtttacacaaaacattcacacagcctgtggtAGAGGGAGACGGACGTCTCAATAAacgcgaacataaAGATCGAGACCCGACGC chrX:294692-Alternative-C;Patient-54 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative C atgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGTAACGCTGAC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagtaacgctgacAGATCGAGACCCGACGC chrX:3634351-Alternative-C;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative C atgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGCGCGAATTGC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagcgcgaattgcAGATCGAGACCCGACGC chrX:3634351-Alternative-C;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative C atgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGCTCAACTGCG CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagctcaactgcgAGATCGAGACCCGACGC chrX:3634351-Alternative-C;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative C atgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc CGAACGCTACGT CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAcgaacgctacgtAGATCGAGACCCGACGC chrX:3634351-Alternative-C;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative C atgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc GTATACTGCGCT CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactCaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAgtatactgcgctAGATCGAGACCCGACGC chrX:3634351-Alternative-C;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative A atgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc GTATAGCGAGCG CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAgtatagcgagcgAGATCGAGACCCGACGC chrX:3634351-Alternative-A;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative A atgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGATCGTTATGC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagatcgttatgcAGATCGAGACCCGACGC chrX:3634351-Alternative-A;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative A atgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AACTCTCAAGCA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAaactctcaagcaAGATCGAGACCCGACGC chrX:3634351-Alternative-A;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative A atgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc CAATTATCGTCC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAcaattatcgtccAGATCGAGACCCGACGC chrX:3634351-Alternative-A;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Alternative A atgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc GTGACATCGTGA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactAaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAgtgacatcgtgaAGATCGAGACCCGACGC chrX:3634351-Alternative-A;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Variant T atgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGTGACGTGTAA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagtgacgtgtaaAGATCGAGACCCGACGC chrX:3634351-Variant-T;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Variant T atgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AACCGGACAGCT CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAaaccggacagctAGATCGAGACCCGACGC chrX:3634351-Variant-T;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Variant T atgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc CAGCGAATTGAG CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAcagcgaattgagAGATCGAGACCCGACGC chrX:3634351-Variant-T;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Variant T atgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AGCATCAAGACA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAagcatcaagacaAGATCGAGACCCGACGC chrX:3634351-Variant-T;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Variant T atgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc CACATCGAAGAA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactTaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAcacatcgaagaaAGATCGAGACCCGACGC chrX:3634351-Variant-T;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Reference G atgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc ATTATTGTGCGG CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAattattgtgcggAGATCGAGACCCGACGC chrX:3634351-Reference-G;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Reference G atgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc GGACTCGGTGAA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAggactcggtgaaAGATCGAGACCCGACGC chrX:3634351-Reference-G;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Reference G atgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AATGCGTCGCGA CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAaatgcgtcgcgaAGATCGAGACCCGACGC chrX:3634351-Reference-G;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Reference G atgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc AACTACCGTACC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAaactaccgtaccAGATCGAGACCCGACGC chrX:3634351-Reference-G;Patient-30 chrX:3634351-GT Inherited Patient-30 intergenic 5e-05 0.000513 NA NA NA PRKX 2675 Reference G atgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgc GGATGCTCAACC CGACGCGGTCTCTCTCTatgtgtgtatatataatgtatatatagccattccatatattatatatactGaattaaatatgttatatatttgtgtatatgtatgtgtacataagtatgcAGAGGGAGACGGACGTCTCAATAAggatgctcaaccAGATCGAGACCCGACGC chrX:3634351-Reference-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative G ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GTATTAGCTGAC CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgtattagctgacAGATCGAGACCCGACGC chrX:3701744-Alternative-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative G ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CGTGGACTACCA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAcgtggactaccaAGATCGAGACCCGACGC chrX:3701744-Alternative-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative G ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa AACAGGCTAGTT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAaacaggctagttAGATCGAGACCCGACGC chrX:3701744-Alternative-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative G ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GCGTATCGTCGA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgcgtatcgtcgaAGATCGAGACCCGACGC chrX:3701744-Alternative-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Reference T ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GATGCCGAGCAT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgatgccgagcatAGATCGAGACCCGACGC chrX:3701744-Reference-T;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Reference T ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa AGCCTGGAATAA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAagcctggaataaAGATCGAGACCCGACGC chrX:3701744-Reference-T;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative G ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CGATATCAACGC CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcGgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAcgatatcaacgcAGATCGAGACCCGACGC chrX:3701744-Alternative-G;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Variant C ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CTATTGAACCGA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAActattgaaccgaAGATCGAGACCCGACGC chrX:3701744-Variant-C;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Variant C ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GCCTTGATATAC CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgccttgatatacAGATCGAGACCCGACGC chrX:3701744-Variant-C;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Variant C ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CTGCTATAACGA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAActgctataacgaAGATCGAGACCCGACGC chrX:3701744-Variant-C;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Variant C ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GCGTCAACGAAC CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgcgtcaacgaacAGATCGAGACCCGACGC chrX:3701744-Variant-C;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Variant C ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GGCGATACTGCT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcCgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAggcgatactgctAGATCGAGACCCGACGC chrX:3701744-Variant-C;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative A ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa AATGGCTGCCGT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAaatggctgccgtAGATCGAGACCCGACGC chrX:3701744-Alternative-A;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative A ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CTCGTATGCAAT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAActcgtatgcaatAGATCGAGACCCGACGC chrX:3701744-Alternative-A;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative A ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa ACGTGGAATCGG CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAacgtggaatcggAGATCGAGACCCGACGC chrX:3701744-Alternative-A;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative A ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa AAGATTGAGTGG CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAaagattgagtggAGATCGAGACCCGACGC chrX:3701744-Alternative-A;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Alternative A ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CATGACGCTGAT CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcAgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAcatgacgctgatAGATCGAGACCCGACGC chrX:3701744-Alternative-A;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Reference T ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GCAATCACCACA CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgcaatcaccacaAGATCGAGACCCGACGC chrX:3701744-Reference-T;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Reference T ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa GCAAGTAACGGC CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAgcaagtaacggcAGATCGAGACCCGACGC chrX:3701744-Reference-T;Patient-30 chrX:3701744-TC Inherited Patient-30 intergenic NA 0.000513 NA NA NA PRKX 70068 Reference T ttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaa CGATGTTCAGCG CGACGCGGTCTCTCTCTttcgatttgacccagatctgattcaagtgatcggaagactgaatgtatgcTgtgaatgcaggagtctataggatcaatttccactggtcacctctggcaaAGAGGGAGACGGACGTCTCAATAAcgatgttcagcgAGATCGAGACCCGACGC chrX:3701744-Reference-T;Patient-30 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Variant C aaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc ACGGTCGTAAGG CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAacggtcgtaaggAGATCGAGACCCGACGC chrX:37729037-Variant-C;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Variant C aaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc GCAGCTACGTGT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAgcagctacgtgtAGATCGAGACCCGACGC chrX:37729037-Variant-C;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Variant C aaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc ACTCACGTAACA CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAactcacgtaacaAGATCGAGACCCGACGC chrX:37729037-Variant-C;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative G aaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc ACGAACGAGGAC CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAacgaacgaggacAGATCGAGACCCGACGC chrX:37729037-Alternative-G;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative G aaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc AAGGTAAGCGCG CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAaaggtaagcgcgAGATCGAGACCCGACGC chrX:37729037-Alternative-G;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Reference T aaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CGGTGTCTTGAC CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcggtgtcttgacAGATCGAGACCCGACGC chrX:37729037-Reference-T;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Reference T aaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CGGCATAATGAA CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcggcataatgaaAGATCGAGACCCGACGC chrX:37729037-Reference-T;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative G aaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CGAGTAACGTAA CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcgagtaacgtaaAGATCGAGACCCGACGC chrX:37729037-Alternative-G;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Reference T aaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CATCTTACGTCT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcatcttacgtctAGATCGAGACCCGACGC chrX:37729037-Reference-T;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Reference T aaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CACGCTACCTGT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcacgctacctgtAGATCGAGACCCGACGC chrX:37729037-Reference-T;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Reference T aaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc AGACTACACGCG CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaTtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAagactacacgcgAGATCGAGACCCGACGC chrX:37729037-Reference-T;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative A aaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc GCGTGTTATCGG CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAgcgtgttatcggAGATCGAGACCCGACGC chrX:37729037-Alternative-A;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Variant C aaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc GTCCGTTAACTT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAgtccgttaacttAGATCGAGACCCGACGC chrX:37729037-Variant-C;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative A aaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc ATAGGCGAGCGT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAataggcgagcgtAGATCGAGACCCGACGC chrX:37729037-Alternative-A;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative G aaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc GTCTCTTCGCGT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAgtctcttcgcgtAGATCGAGACCCGACGC chrX:37729037-Alternative-G;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Variant C aaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc GGCTCGAGTGTT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaCtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAggctcgagtgttAGATCGAGACCCGACGC chrX:37729037-Variant-C;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative A aaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CTAAGTGACCGT CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAActaagtgaccgtAGATCGAGACCCGACGC chrX:37729037-Alternative-A;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative A aaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc CATCTAACCAAG CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAcatctaaccaagAGATCGAGACCCGACGC chrX:37729037-Alternative-A;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative A aaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc ATACGCTGAGAA CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaAtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAatacgctgagaaAGATCGAGACCCGACGC chrX:37729037-Alternative-A;Patient-4 chrX:37729037-TC DeNovo Patient-4 intergenic NA 0.000513 -0.31 0.33 -1.77 CYBB 89766 Alternative G aaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgc AGATGTAGGTAC CGACGCGGTCTCTCTCTaaacattaatagctgttactaagtgaagacagggaagatttactctagtaGtgaggacatactaaagctgggaatgataaatttgtagtggtaaaaatgcAGAGGGAGACGGACGTCTCAATAAagatgtaggtacAGATCGAGACCCGACGC chrX:37729037-Alternative-G;Patient-4 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Reference G ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AACGAATTGCGA CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAaacgaattgcgaAGATCGAGACCCGACGC chrX:39947849-Reference-G;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative A ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GGCTTCGTGTTC CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAggcttcgtgttcAGATCGAGACCCGACGC chrX:39947849-Alternative-A;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Variant C ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg ACTGGTAAGGAT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAactggtaaggatAGATCGAGACCCGACGC chrX:39947849-Variant-C;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Reference G ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg CTCATACCAAGT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAActcataccaagtAGATCGAGACCCGACGC chrX:39947849-Reference-G;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Reference G ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg CAGCGTCAACTT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAcagcgtcaacttAGATCGAGACCCGACGC chrX:39947849-Reference-G;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Reference G ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AATCTGTCGTTC CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAaatctgtcgttcAGATCGAGACCCGACGC chrX:39947849-Reference-G;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Variant C ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GAGAGTAGTAAG CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAgagagtagtaagAGATCGAGACCCGACGC chrX:39947849-Variant-C;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative T ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AACAGATCTGCT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAaacagatctgctAGATCGAGACCCGACGC chrX:39947849-Alternative-T;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative T ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg ACGTAGTAAGCA CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAacgtagtaagcaAGATCGAGACCCGACGC chrX:39947849-Alternative-T;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative A ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg CTCGCTATATGT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAActcgctatatgtAGATCGAGACCCGACGC chrX:39947849-Alternative-A;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative A ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GTGTAGATGCTT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAgtgtagatgcttAGATCGAGACCCGACGC chrX:39947849-Alternative-A;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative T ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GCGACGTATATC CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAgcgacgtatatcAGATCGAGACCCGACGC chrX:39947849-Alternative-T;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative T ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GGATATAGCTGA CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAggatatagctgaAGATCGAGACCCGACGC chrX:39947849-Alternative-T;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative A ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg ACCTTCGTGGAA CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAaccttcgtggaaAGATCGAGACCCGACGC chrX:39947849-Alternative-A;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Variant C ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AACCAAGACGGC CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAaaccaagacggcAGATCGAGACCCGACGC chrX:39947849-Variant-C;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative A ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GCAAGCGACAGT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagAaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAgcaagcgacagtAGATCGAGACCCGACGC chrX:39947849-Alternative-A;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Variant C ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AGTGCCAGAGGT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAagtgccagaggtAGATCGAGACCCGACGC chrX:39947849-Variant-C;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Alternative T ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg AGATGAGTTGGT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagTaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAagatgagttggtAGATCGAGACCCGACGC chrX:39947849-Alternative-T;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Reference G ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg ACAGAGCTCCGA CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagGaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAacagagctccgaAGATCGAGACCCGACGC chrX:39947849-Reference-G;Patient-92 chrX:39947849-GC Inherited Patient-92 intronic BCOR NA 0.000201491 2.21 21.4 5.15 BCOR 88732 Variant C ccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctgg GTATAGATGCCT CGACGCGGTCTCTCTCTccaagtgtagcttcaatcaaacactgacttcccctctgggagtcgagtagCaaacctgatcacagtagcttactaccagcctggatccatacaggtctggAGAGGGAGACGGACGTCTCAATAAgtatagatgcctAGATCGAGACCCGACGC chrX:39947849-Variant-C;Patient-92 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative A tatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatat GTTCCGACGGAA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgttccgacggaaAGATCGAGACCCGACGC chrX:39998682-Alternative-A;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Variant C tatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatat CTAACTCACGGT CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAActaactcacggtAGATCGAGACCCGACGC chrX:39998682-Variant-C;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative A tatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatat CGTTAGAGCGCT CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAcgttagagcgctAGATCGAGACCCGACGC chrX:39998682-Alternative-A;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative A tatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatat ACTCGCGAAGCA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAactcgcgaagcaAGATCGAGACCCGACGC chrX:39998682-Alternative-A;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Variant C tatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatat GCATACGCTGAC CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgcatacgctgacAGATCGAGACCCGACGC chrX:39998682-Variant-C;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative A tatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatat GTGTACAGACGG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgtgtacagacggAGATCGAGACCCGACGC chrX:39998682-Alternative-A;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative G tatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatat ACGAAGTTAGGT CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAacgaagttaggtAGATCGAGACCCGACGC chrX:39998682-Alternative-G;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Variant C tatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatat GTCGCAGATAGA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgtcgcagatagaAGATCGAGACCCGACGC chrX:39998682-Variant-C;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative A tatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatat ACCGGTGGACTA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataAatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAaccggtggactaAGATCGAGACCCGACGC chrX:39998682-Alternative-A;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Variant C tatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatat GTTCAATTCGAG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgttcaattcgagAGATCGAGACCCGACGC chrX:39998682-Variant-C;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Variant C tatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatat GTAATCCGCGCA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataCatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgtaatccgcgcaAGATCGAGACCCGACGC chrX:39998682-Variant-C;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Reference T tatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatat GGTACAATGCTT CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAggtacaatgcttAGATCGAGACCCGACGC chrX:39998682-Reference-T;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Reference T tatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatat AGCATACTTACG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAagcatacttacgAGATCGAGACCCGACGC chrX:39998682-Reference-T;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative G tatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatat CACTATTCTCCT CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAcactattctcctAGATCGAGACCCGACGC chrX:39998682-Alternative-G;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative G tatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatat CTTACGACGTGG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAActtacgacgtggAGATCGAGACCCGACGC chrX:39998682-Alternative-G;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Reference T tatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatat ATTCAAGCGGCG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAattcaagcggcgAGATCGAGACCCGACGC chrX:39998682-Reference-T;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Reference T tatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatat ACGTCACTTGAA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAacgtcacttgaaAGATCGAGACCCGACGC chrX:39998682-Reference-T;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative G tatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatat ACACGACATAAG CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAacacgacataagAGATCGAGACCCGACGC chrX:39998682-Alternative-G;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Reference T tatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatat GCCGATGCGTAA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataTatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAgccgatgcgtaaAGATCGAGACCCGACGC chrX:39998682-Reference-T;Patient-73 chrX:39998682-TC DeNovo Patient-73 intronic BCOR NA 0.000302 0.02 2.94 0 BCOR 37899 Alternative G tatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatat CGACTGTGTCGA CGACGCGGTCTCTCTCTtatataatatatatacatatatatatatatatatataatatatatacataGatatatatatatatataatatatatacatatatatatatatatatatatAGAGGGAGACGGACGTCTCAATAAcgactgtgtcgaAGATCGAGACCCGACGC chrX:39998682-Alternative-G;Patient-73 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative A gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc CGCGAGCACAAT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAcgcgagcacaatAGATCGAGACCCGACGC chrX:46562661-Alternative-A;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Variant C gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc CTCGGCTGTTGT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAActcggctgttgtAGATCGAGACCCGACGC chrX:46562661-Variant-C;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Variant C gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc AGACTAACAGCA CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAagactaacagcaAGATCGAGACCCGACGC chrX:46562661-Variant-C;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative A gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc CTGAGTGTCGCA CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAActgagtgtcgcaAGATCGAGACCCGACGC chrX:46562661-Alternative-A;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative A gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GTCGGAATATGA CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgtcggaatatgaAGATCGAGACCCGACGC chrX:46562661-Alternative-A;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative A gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ACGCTCCTAAGG CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAacgctcctaaggAGATCGAGACCCGACGC chrX:46562661-Alternative-A;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Variant C gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ACACAGCGAGGT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAacacagcgaggtAGATCGAGACCCGACGC chrX:46562661-Variant-C;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative A gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ACGTCTAGTAAC CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgAtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAacgtctagtaacAGATCGAGACCCGACGC chrX:46562661-Alternative-A;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Reference T gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc AGCTTAGATAGG CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAagcttagataggAGATCGAGACCCGACGC chrX:46562661-Reference-T;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Variant C gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GAGTATATCGAC CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgagtatatcgacAGATCGAGACCCGACGC chrX:46562661-Variant-C;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Variant C gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GTTGATCGCGCT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgCtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgttgatcgcgctAGATCGAGACCCGACGC chrX:46562661-Variant-C;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Reference T gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ACCTCGGCTAAG CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAacctcggctaagAGATCGAGACCCGACGC chrX:46562661-Reference-T;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Reference T gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ACTGAGTGCGGT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAactgagtgcggtAGATCGAGACCCGACGC chrX:46562661-Reference-T;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Reference T gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GTCGAGGAGTCA CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgtcgaggagtcaAGATCGAGACCCGACGC chrX:46562661-Reference-T;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative G gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GTGACGCGCTAT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgtgacgcgctatAGATCGAGACCCGACGC chrX:46562661-Alternative-G;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Reference T gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GTGTAAGTTCAC CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgTtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgtgtaagttcacAGATCGAGACCCGACGC chrX:46562661-Reference-T;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative G gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc ATAGTTGAACGG CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAatagttgaacggAGATCGAGACCCGACGC chrX:46562661-Alternative-G;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative G gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GCAGTACGGCTT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgcagtacggcttAGATCGAGACCCGACGC chrX:46562661-Alternative-G;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative G gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GGAGGTTGCGTT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAggaggttgcgttAGATCGAGACCCGACGC chrX:46562661-Alternative-G;Patient-99 chrX:46562661-TC DeNovo Patient-99 intronic SLC9A7 4.5e-05 9.9e-05 0.08 3.87 0.24 SLC9A7 55945 Alternative G gatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgc GATTCGTGTTCT CGACGCGGTCTCTCTCTgatgcatagtttgcaaatattttctcccattctgtagattgtttactctgGtaatagtttcttttgctgtgcagaagctctttaatcaggtcccacttgcAGAGGGAGACGGACGTCTCAATAAgattcgtgttctAGATCGAGACCCGACGC chrX:46562661-Alternative-G;Patient-99 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative T caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc GACAACTATCGA CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAgacaactatcgaAGATCGAGACCCGACGC chrX:47182912-Alternative-T;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Reference A caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ATCGCAATATCG CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAatcgcaatatcgAGATCGAGACCCGACGC chrX:47182912-Reference-A;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative T caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc GAGCTGTTAACC CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAgagctgttaaccAGATCGAGACCCGACGC chrX:47182912-Alternative-T;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative G caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CGGCTATAACGC CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAcggctataacgcAGATCGAGACCCGACGC chrX:47182912-Alternative-G;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative T caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc AGGCTCCTACAG CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAaggctcctacagAGATCGAGACCCGACGC chrX:47182912-Alternative-T;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Variant C caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CGTTAGAACGGC CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAcgttagaacggcAGATCGAGACCCGACGC chrX:47182912-Variant-C;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative T caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc GGATCAAGAGCA CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAggatcaagagcaAGATCGAGACCCGACGC chrX:47182912-Alternative-T;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Reference A caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CGTTGTTAGACT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAcgttgttagactAGATCGAGACCCGACGC chrX:47182912-Reference-A;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Reference A caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc GACGATCGCTGT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAgacgatcgctgtAGATCGAGACCCGACGC chrX:47182912-Reference-A;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative G caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CTTGGACATAGT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAActtggacatagtAGATCGAGACCCGACGC chrX:47182912-Alternative-G;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative T caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CAACAAGTCGAG CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaTaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAcaacaagtcgagAGATCGAGACCCGACGC chrX:47182912-Alternative-T;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Variant C caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc CTGTTCGGAATA CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAActgttcggaataAGATCGAGACCCGACGC chrX:47182912-Variant-C;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative G caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ACATGCGATCTT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAacatgcgatcttAGATCGAGACCCGACGC chrX:47182912-Alternative-G;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Variant C caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ACGACTGCATGT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAacgactgcatgtAGATCGAGACCCGACGC chrX:47182912-Variant-C;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative G caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ACGAGAGATAGA CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAacgagagatagaAGATCGAGACCCGACGC chrX:47182912-Alternative-G;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Variant C caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc AGATGCCGATCG CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAagatgccgatcgAGATCGAGACCCGACGC chrX:47182912-Variant-C;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Variant C caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ACCGAACTGTGG CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaCaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAaccgaactgtggAGATCGAGACCCGACGC chrX:47182912-Variant-C;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Alternative G caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc AATCGTAAGGAC CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaGaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAaatcgtaaggacAGATCGAGACCCGACGC chrX:47182912-Alternative-G;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Reference A caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc ATCTCATGTCGT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAatctcatgtcgtAGATCGAGACCCGACGC chrX:47182912-Reference-A;Patient-14 chrX:47182912-AC Inherited Patient-14 intergenic 0.000587 0.00205 0.04 3.24 0 USP11 90597 Reference A caactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatccc AGAATGTGCAGT CGACGCGGTCTCTCTCTcaactagggttttacaatgagatctcatctttgtccaaaaaaaaaaaaaaAaaaaaaaaaaaaaaaaaagccgggcgcggtggctcacgcttgtaatcccAGAGGGAGACGGACGTCTCAATAAagaatgtgcagtAGATCGAGACCCGACGC chrX:47182912-Reference-A;Patient-14 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Variant T gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttctttttttttttt CGTTCAAGGTTA CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAcgttcaaggttaAGATCGAGACCCGACGC chrX:48514298-Variant-T;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative G gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttctttttttttttt CTTGACCTAGTT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActtgacctagttAGATCGAGACCCGACGC chrX:48514298-Alternative-G;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Variant T gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttctttttttttttt AGGCGAGATAGG CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAaggcgagataggAGATCGAGACCCGACGC chrX:48514298-Variant-T;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative G gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttctttttttttttt GACGTTCTTGTT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAgacgttcttgttAGATCGAGACCCGACGC chrX:48514298-Alternative-G;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative A gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttctttttttttttt CTAACCAACGAG CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActaaccaacgagAGATCGAGACCCGACGC chrX:48514298-Alternative-A;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Variant T gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttctttttttttttt CATGACCTACCT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAcatgacctacctAGATCGAGACCCGACGC chrX:48514298-Variant-T;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Reference C gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttctttttttttttt ATATTCCGGAGT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAatattccggagtAGATCGAGACCCGACGC chrX:48514298-Reference-C;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Reference C gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttctttttttttttt GGTCATTACAGT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAggtcattacagtAGATCGAGACCCGACGC chrX:48514298-Reference-C;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative A gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttctttttttttttt ATAGGTCGAGTT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAataggtcgagttAGATCGAGACCCGACGC chrX:48514298-Alternative-A;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative A gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttctttttttttttt GGTGGTCGTTCA CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAggtggtcgttcaAGATCGAGACCCGACGC chrX:48514298-Alternative-A;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Reference C gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttctttttttttttt CTAACGTACCTT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActaacgtaccttAGATCGAGACCCGACGC chrX:48514298-Reference-C;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative A gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttctttttttttttt ATATGAGCAACG CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAatatgagcaacgAGATCGAGACCCGACGC chrX:48514298-Alternative-A;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Reference C gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttctttttttttttt CTTGAAGTCGCT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActtgaagtcgctAGATCGAGACCCGACGC chrX:48514298-Reference-C;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Variant T gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttctttttttttttt CTAATTCGCCGC CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActaattcgccgcAGATCGAGACCCGACGC chrX:48514298-Variant-T;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative G gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttctttttttttttt CGTGGAACGAGT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAcgtggaacgagtAGATCGAGACCCGACGC chrX:48514298-Alternative-G;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative G gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttctttttttttttt AATGCGCATTCT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAaatgcgcattctAGATCGAGACCCGACGC chrX:48514298-Alternative-G;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Reference C gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttctttttttttttt CTATTCTGACGT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatCttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAActattctgacgtAGATCGAGACCCGACGC chrX:48514298-Reference-C;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Variant T gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttctttttttttttt ACGAGTATAGCA CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatTttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAacgagtatagcaAGATCGAGACCCGACGC chrX:48514298-Variant-T;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative A gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttctttttttttttt GAAGTTGGCAAT CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatAttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAgaagttggcaatAGATCGAGACCCGACGC chrX:48514298-Alternative-A;Patient-58 chrX:48514298-CT Inherited Patient-58 intergenic 0.000556 0.00154 -0.12 1.22 0.12 SUV39H1 40832 Alternative G gccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttctttttttttttt GCGTCGGCATTA CGACGCGGTCTCTCTCTgccgaatagttctatggtttggtcctataggatctaagaagtttaatcatGttccttcattttgtcccattttctttttttctttttcttttttttttttAGAGGGAGACGGACGTCTCAATAAgcgtcggcattaAGATCGAGACCCGACGC chrX:48514298-Alternative-G;Patient-58 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Reference G cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg GACTATCATGCA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAgactatcatgcaAGATCGAGACCCGACGC chrX:48560789-Reference-G;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Reference G cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGTGACGTGGAC CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagtgacgtggacAGATCGAGACCCGACGC chrX:48560789-Reference-G;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative T cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGCCGCCTTGTT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagccgccttgttAGATCGAGACCCGACGC chrX:48560789-Alternative-T;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Reference G cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGTACAAGCGGC CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagtacaagcggcAGATCGAGACCCGACGC chrX:48560789-Reference-G;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative T cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGATAGCGGCGT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagatagcggcgtAGATCGAGACCCGACGC chrX:48560789-Alternative-T;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Reference G cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg ATCCGCAGACTA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAatccgcagactaAGATCGAGACCCGACGC chrX:48560789-Reference-G;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative A cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGAATGGACTTC CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagaatggacttcAGATCGAGACCCGACGC chrX:48560789-Alternative-A;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative T cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AATAGCGCGTCG CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAaatagcgcgtcgAGATCGAGACCCGACGC chrX:48560789-Alternative-T;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative T cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg CTATTGGACGAT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAActattggacgatAGATCGAGACCCGACGC chrX:48560789-Alternative-T;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Reference G cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg CTTGAGTGAGCT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccGgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAActtgagtgagctAGATCGAGACCCGACGC chrX:48560789-Reference-G;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative A cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg GACTACGAGATA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAgactacgagataAGATCGAGACCCGACGC chrX:48560789-Alternative-A;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative T cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg GGCACGACCATA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccTgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAggcacgaccataAGATCGAGACCCGACGC chrX:48560789-Alternative-T;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Variant C cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg CGACCAGTACAC CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAcgaccagtacacAGATCGAGACCCGACGC chrX:48560789-Variant-C;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative A cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGGAGTTGACAT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAaggagttgacatAGATCGAGACCCGACGC chrX:48560789-Alternative-A;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative A cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg ACCTGGCCGATA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAacctggccgataAGATCGAGACCCGACGC chrX:48560789-Alternative-A;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Alternative A cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg GTAGCGTCCTAC CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccAgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAgtagcgtcctacAGATCGAGACCCGACGC chrX:48560789-Alternative-A;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Variant C cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AATCGCGGAATA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAaatcgcggaataAGATCGAGACCCGACGC chrX:48560789-Variant-C;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Variant C cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg ATTGAACGGCGG CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAattgaacggcggAGATCGAGACCCGACGC chrX:48560789-Variant-C;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Variant C cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AATCGACGACTA CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAaatcgacgactaAGATCGAGACCCGACGC chrX:48560789-Variant-C;Patient-81 chrX:48560789-GC DeNovo Patient-81 intronic SUV39H1 0.000139 0.000198 -0.3 0.35 -4.96 SUV39H1 5657 Variant C cccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcgg AGTCGAGCTCGT CGACGCGGTCTCTCTCTcccatgttgtcatgacaggaaaaagaagtgtcctcaccccagagggatccCgacagcctggagatctagtctacacccaagggcaccctgacagtatcggAGAGGGAGACGGACGTCTCAATAAagtcgagctcgtAGATCGAGACCCGACGC chrX:48560789-Variant-C;Patient-81 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative A caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GCGGCATACGAA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgcggcatacgaaAGATCGAGACCCGACGC chrX:48868917-Alternative-A;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Reference C caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctag CGCCAATGATGT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAcgccaatgatgtAGATCGAGACCCGACGC chrX:48868917-Reference-C;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative T caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctag CGAGATAGCATA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAcgagatagcataAGATCGAGACCCGACGC chrX:48868917-Alternative-T;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Variant G caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctag ACGGCTCACAAC CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAacggctcacaacAGATCGAGACCCGACGC chrX:48868917-Variant-G;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative A caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctag ATCGTCTAACGA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAatcgtctaacgaAGATCGAGACCCGACGC chrX:48868917-Alternative-A;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Reference C caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GCGACTGGATGA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgcgactggatgaAGATCGAGACCCGACGC chrX:48868917-Reference-C;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative A caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctag CTCATTACGGAA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAActcattacggaaAGATCGAGACCCGACGC chrX:48868917-Alternative-A;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Reference C caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctag CTTACATCTACC CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAActtacatctaccAGATCGAGACCCGACGC chrX:48868917-Reference-C;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Reference C caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctag ATCTGGCTGGTT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAatctggctggttAGATCGAGACCCGACGC chrX:48868917-Reference-C;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Variant G caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GTTCACGCGCTA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgttcacgcgctaAGATCGAGACCCGACGC chrX:48868917-Variant-G;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Variant G caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctag ATACGTGACAAG CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAatacgtgacaagAGATCGAGACCCGACGC chrX:48868917-Variant-G;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative T caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GGTACCGAACTT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAggtaccgaacttAGATCGAGACCCGACGC chrX:48868917-Alternative-T;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Reference C caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GGTGACTAAGCG CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccCaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAggtgactaagcgAGATCGAGACCCGACGC chrX:48868917-Reference-C;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative A caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctag AAGGTAGGAGAT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAaaggtaggagatAGATCGAGACCCGACGC chrX:48868917-Alternative-A;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative T caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GGTGTTCTACGG CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAggtgttctacggAGATCGAGACCCGACGC chrX:48868917-Alternative-T;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative T caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GACATCAAGCTA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgacatcaagctaAGATCGAGACCCGACGC chrX:48868917-Alternative-T;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Variant G caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GTAATTCGCGTT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgtaattcgcgttAGATCGAGACCCGACGC chrX:48868917-Variant-G;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative T caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctag CGTACCTATACT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccTaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAcgtacctatactAGATCGAGACCCGACGC chrX:48868917-Alternative-T;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Alternative A caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GCGGATAACATT CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccAaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgcggataacattAGATCGAGACCCGACGC chrX:48868917-Alternative-A;Patient-53 chrX:48868917-CG DeNovo Patient-53 intergenic NA 0.000513 0.43 8.71 0.16 WDR45 89141 Variant G caggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctag GTCGAACGGCAA CGACGCGGTCTCTCTCTcaggcccaactaatttttgtatgttttgtagatgcgcccaccaccacaccGaactaatttttgtatgttttgtagagatggtttttgccatattgcctagAGAGGGAGACGGACGTCTCAATAAgtcgaacggcaaAGATCGAGACCCGACGC chrX:48868917-Variant-G;Patient-53 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative A tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct AGAGCTGATCGG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAagagctgatcggAGATCGAGACCCGACGC chrX:53310095-Alternative-A;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Variant T tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GATCCGCTCCAA CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAgatccgctccaaAGATCGAGACCCGACGC chrX:53310095-Variant-T;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Variant T tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ATTAACGCGACT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAattaacgcgactAGATCGAGACCCGACGC chrX:53310095-Variant-T;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative C tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GAATGTAGTTCG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAgaatgtagttcgAGATCGAGACCCGACGC chrX:53310095-Alternative-C;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative A tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ACACACAACAAG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAacacacaacaagAGATCGAGACCCGACGC chrX:53310095-Alternative-A;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative A tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct AGGCTATCGGAC CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAaggctatcggacAGATCGAGACCCGACGC chrX:53310095-Alternative-A;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative C tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ACAGCAAGTCGG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAacagcaagtcggAGATCGAGACCCGACGC chrX:53310095-Alternative-C;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Variant T tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ACTAGACTGACT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAactagactgactAGATCGAGACCCGACGC chrX:53310095-Variant-T;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative A tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct CGCGAATGTCGT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAcgcgaatgtcgtAGATCGAGACCCGACGC chrX:53310095-Alternative-A;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative C tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct AGCTTAATTGCG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAagcttaattgcgAGATCGAGACCCGACGC chrX:53310095-Alternative-C;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative C tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GTTGTGGACCGT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAgttgtggaccgtAGATCGAGACCCGACGC chrX:53310095-Alternative-C;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Variant T tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct AGACGTAAGGCG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAagacgtaaggcgAGATCGAGACCCGACGC chrX:53310095-Variant-T;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative C tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ACAGATCCTACA CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgCtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAacagatcctacaAGATCGAGACCCGACGC chrX:53310095-Alternative-C;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Alternative A tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ACGTCTGTCGCT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgAtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAacgtctgtcgctAGATCGAGACCCGACGC chrX:53310095-Alternative-A;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Variant T tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct AGGTAGCAACGC CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgTtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAaggtagcaacgcAGATCGAGACCCGACGC chrX:53310095-Variant-T;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Reference G tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct ATAGGTCGTGAA CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAataggtcgtgaaAGATCGAGACCCGACGC chrX:53310095-Reference-G;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Reference G tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GAGTATGCAGAT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAgagtatgcagatAGATCGAGACCCGACGC chrX:53310095-Reference-G;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Reference G tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GGAACGTCTAGG CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAggaacgtctaggAGATCGAGACCCGACGC chrX:53310095-Reference-G;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Reference G tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct CAGTATACTGGT CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAcagtatactggtAGATCGAGACCCGACGC chrX:53310095-Reference-G;Patient-76 chrX:53310095-GT Inherited Patient-76 intronic IQSEC2 0.000456 4.95e-05 0.47 9.14 3.13 IQSEC2 40426 Reference G tccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggct GGCGCGTACTAA CGACGCGGTCTCTCTCTtccaggtcagccagcccctgtcccccacaagcccacagaggcagactgtgGtcagggcctggccattcaaaagcccatgtaaaagccaggagacatggctAGAGGGAGACGGACGTCTCAATAAggcgcgtactaaAGATCGAGACCCGACGC chrX:53310095-Reference-G;Patient-76 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Reference A gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatc GCGCTATTGACG CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgcgctattgacgAGATCGAGACCCGACGC chrX:54057100-Reference-A;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative C gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatc GAGTTAGCGGAA CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgagttagcggaaAGATCGAGACCCGACGC chrX:54057100-Alternative-C;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Reference A gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatc GACGAGTGTTAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgacgagtgttatAGATCGAGACCCGACGC chrX:54057100-Reference-A;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Reference A gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatc AGGCTTAAGGAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAaggcttaaggatAGATCGAGACCCGACGC chrX:54057100-Reference-A;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative C gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatc ACTGCATGCGCT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAactgcatgcgctAGATCGAGACCCGACGC chrX:54057100-Alternative-C;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative C gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatc AACGCGGTATAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAaacgcggtatatAGATCGAGACCCGACGC chrX:54057100-Alternative-C;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative C gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatc GCGCACGAGATA CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgcgcacgagataAGATCGAGACCCGACGC chrX:54057100-Alternative-C;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative C gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatc ACCGGTATTCGC CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaCctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAaccggtattcgcAGATCGAGACCCGACGC chrX:54057100-Alternative-C;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Reference A gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatc GCGTCTAAGTAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgcgtctaagtatAGATCGAGACCCGACGC chrX:54057100-Reference-A;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Reference A gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatc ACAACTCAACGC CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaActgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAacaactcaacgcAGATCGAGACCCGACGC chrX:54057100-Reference-A;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative T gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatc CAGCTACTGCGA CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAcagctactgcgaAGATCGAGACCCGACGC chrX:54057100-Alternative-T;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative T gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatc ACTGTCCTATAC CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAactgtcctatacAGATCGAGACCCGACGC chrX:54057100-Alternative-T;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative T gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatc AGTTCGTTCCAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAagttcgttccatAGATCGAGACCCGACGC chrX:54057100-Alternative-T;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Variant G gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatc CTGGTGATAGAA CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAActggtgatagaaAGATCGAGACCCGACGC chrX:54057100-Variant-G;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative T gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatc GCACGATGCAAG CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAgcacgatgcaagAGATCGAGACCCGACGC chrX:54057100-Alternative-T;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Alternative T gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatc AAGACCGACTAA CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaTctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAaagaccgactaaAGATCGAGACCCGACGC chrX:54057100-Alternative-T;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Variant G gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatc AACGATTCTCCT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAaacgattctcctAGATCGAGACCCGACGC chrX:54057100-Variant-G;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Variant G gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatc CAGACGTTGTCG CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAcagacgttgtcgAGATCGAGACCCGACGC chrX:54057100-Variant-G;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Variant G gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatc CGAAGAGATCAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAAcgaagagatcatAGATCGAGACCCGACGC chrX:54057100-Variant-G;Patient-92 chrX:54057100-AG Inherited Patient-92 intronic PHF8 NA 0.000148 1.18 14.34 2.77 PHF8 14468 Variant G gatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatc CTACGAAGTCAT CGACGCGGTCTCTCTCTgatagtgagtgaatgaatttgaagttagcataaaaggcactgagaaaaaaGctgagctatgaacttcacatattatcacatttaatctccacaacaaatcAGAGGGAGACGGACGTCTCAATAActacgaagtcatAGATCGAGACCCGACGC chrX:54057100-Variant-G;Patient-92 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Variant G tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GCGCTGAACGAT CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAgcgctgaacgatAGATCGAGACCCGACGC chrX:54857835-Variant-G;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Variant G tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacat AATAGGACCGAT CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAaataggaccgatAGATCGAGACCCGACGC chrX:54857835-Variant-G;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative C tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CTGGCGTTCTGA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAActggcgttctgaAGATCGAGACCCGACGC chrX:54857835-Alternative-C;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative C tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacat AACGTAGTATGG CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAaacgtagtatggAGATCGAGACCCGACGC chrX:54857835-Alternative-C;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Reference A tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacat ACACGATGTCTA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAacacgatgtctaAGATCGAGACCCGACGC chrX:54857835-Reference-A;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Variant G tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CGTATAGCACCA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAcgtatagcaccaAGATCGAGACCCGACGC chrX:54857835-Variant-G;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative C tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CAAGGAACACCA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAcaaggaacaccaAGATCGAGACCCGACGC chrX:54857835-Alternative-C;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Reference A tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CTTGCATCAGTT CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAActtgcatcagttAGATCGAGACCCGACGC chrX:54857835-Reference-A;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Reference A tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacat ACTAACGGACGG CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAactaacggacggAGATCGAGACCCGACGC chrX:54857835-Reference-A;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Variant G tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CTTGATGTGCGG CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAActtgatgtgcggAGATCGAGACCCGACGC chrX:54857835-Variant-G;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative T tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacat AGTCTATCTAGG CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAagtctatctaggAGATCGAGACCCGACGC chrX:54857835-Alternative-T;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative T tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GATTGCAGCGCT CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAgattgcagcgctAGATCGAGACCCGACGC chrX:54857835-Alternative-T;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative T tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CGGACCGTAGTT CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAcggaccgtagttAGATCGAGACCCGACGC chrX:54857835-Alternative-T;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative T tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GGCGCGTCAATA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAggcgcgtcaataAGATCGAGACCCGACGC chrX:54857835-Alternative-T;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative C tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacat ACTTATCGACGA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAacttatcgacgaAGATCGAGACCCGACGC chrX:54857835-Alternative-C;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Variant G tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GCAATGTAATCG CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccGtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAgcaatgtaatcgAGATCGAGACCCGACGC chrX:54857835-Variant-G;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative C tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GTAGTGTAGCAA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccCtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAgtagtgtagcaaAGATCGAGACCCGACGC chrX:54857835-Alternative-C;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Reference A tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CGGTAACTCGTC CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAcggtaactcgtcAGATCGAGACCCGACGC chrX:54857835-Reference-A;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Alternative T tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacat CGGAGATCACCA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccTtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAcggagatcaccaAGATCGAGACCCGACGC chrX:54857835-Alternative-T;Patient-37 chrX:54857835-AG DeNovo Patient-37 intergenic 9.3e-05 0.000513 -0.04 2.03 0.2 MAGED2 23663 Reference A tgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacat GTGCTTCTCGCA CGACGCGGTCTCTCTCTtgcccctcctccctcagcctctggtaaccactcttctatgctctatctccAtgagttcaactgctttcattttttagatcccactaatgagtgacaacatAGAGGGAGACGGACGTCTCAATAAgtgcttctcgcaAGATCGAGACCCGACGC chrX:54857835-Reference-A;Patient-37 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Variant T tctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GAGGTGCGAATT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgaggtgcgaattAGATCGAGACCCGACGC chrX:56526954-Variant-T;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative G tctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaa CGGCAAGCAAGA CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAcggcaagcaagaAGATCGAGACCCGACGC chrX:56526954-Alternative-G;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative A tctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaa CTGGTTCAACGG CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAActggttcaacggAGATCGAGACCCGACGC chrX:56526954-Alternative-A;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Variant T tctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GTGATAGTATGG CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgtgatagtatggAGATCGAGACCCGACGC chrX:56526954-Variant-T;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Variant T tctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GTGCTAACAGAT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgtgctaacagatAGATCGAGACCCGACGC chrX:56526954-Variant-T;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative G tctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaa AGTTGGACAGAT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAagttggacagatAGATCGAGACCCGACGC chrX:56526954-Alternative-G;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative G tctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaa CTTGAAGTGTAC CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAActtgaagtgtacAGATCGAGACCCGACGC chrX:56526954-Alternative-G;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative G tctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GATTATATCGGC CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgattatatcggcAGATCGAGACCCGACGC chrX:56526954-Alternative-G;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative G tctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaa ACACGAATCGCG CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaGacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAacacgaatcgcgAGATCGAGACCCGACGC chrX:56526954-Alternative-G;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Reference C tctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GAGGTAGATACG CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgaggtagatacgAGATCGAGACCCGACGC chrX:56526954-Reference-C;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Variant T tctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaa AGCGCTACCAGT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAagcgctaccagtAGATCGAGACCCGACGC chrX:56526954-Variant-T;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Reference C tctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GTGTTATGTCGA CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgtgttatgtcgaAGATCGAGACCCGACGC chrX:56526954-Reference-C;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative A tctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GGCTTCGTTCGT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAggcttcgttcgtAGATCGAGACCCGACGC chrX:56526954-Alternative-A;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Variant T tctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaa AGAATTGCGCTT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaTacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAagaattgcgcttAGATCGAGACCCGACGC chrX:56526954-Variant-T;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative A tctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaa ACCGACCATCAA CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAaccgaccatcaaAGATCGAGACCCGACGC chrX:56526954-Alternative-A;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative A tctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GCGGATTGCACA CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgcggattgcacaAGATCGAGACCCGACGC chrX:56526954-Alternative-A;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Reference C tctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaa ACACATACTGCT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAacacatactgctAGATCGAGACCCGACGC chrX:56526954-Reference-C;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Alternative A tctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaa AGCTGTGCGCAA CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaAacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAagctgtgcgcaaAGATCGAGACCCGACGC chrX:56526954-Alternative-A;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Reference C tctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaa CAGTTCCGTCGT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAcagttccgtcgtAGATCGAGACCCGACGC chrX:56526954-Reference-C;Patient-84 chrX:56526954-CT DeNovo Patient-84 intergenic NA 0.000513 -0.15 0.99 0 UBQLN2 63071 Reference C tctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaa GTTCCGCTCGTT CGACGCGGTCTCTCTCTtctatctatccatatctatatatctgtacacacacacacacacacacacaCacagagagagagagagagagagaaatcagggtagaatatttattgaaaaAGAGGGAGACGGACGTCTCAATAAgttccgctcgttAGATCGAGACCCGACGC chrX:56526954-Reference-C;Patient-84 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative G atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GTACGCGGATCA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgtacgcggatcaAGATCGAGACCCGACGC chrX:56668583-Alternative-G;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative G atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaa CAGGTCGCAACT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAcaggtcgcaactAGATCGAGACCCGACGC chrX:56668583-Alternative-G;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative G atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GCGATGTTCGAG CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgcgatgttcgagAGATCGAGACCCGACGC chrX:56668583-Alternative-G;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative G atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaa CGTATCAAGGTT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAcgtatcaaggttAGATCGAGACCCGACGC chrX:56668583-Alternative-G;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Variant C atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaa ACGTTAGACAGT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAacgttagacagtAGATCGAGACCCGACGC chrX:56668583-Variant-C;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Reference T atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GCGTTCTGCTTC CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgcgttctgcttcAGATCGAGACCCGACGC chrX:56668583-Reference-T;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative A atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AGGAACTCCTAT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAaggaactcctatAGATCGAGACCCGACGC chrX:56668583-Alternative-A;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Reference T atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AGTCAACGACTT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAagtcaacgacttAGATCGAGACCCGACGC chrX:56668583-Reference-T;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Reference T atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GCGAGTACAATT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgcgagtacaattAGATCGAGACCCGACGC chrX:56668583-Reference-T;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Reference T atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaa CTCATGGCCGAT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAActcatggccgatAGATCGAGACCCGACGC chrX:56668583-Reference-T;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Variant C atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaa CGAGATATCGAT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAcgagatatcgatAGATCGAGACCCGACGC chrX:56668583-Variant-C;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative G atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AAGACGATACCA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaGaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAaagacgataccaAGATCGAGACCCGACGC chrX:56668583-Alternative-G;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Reference T atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GGTGTAACGTAA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaTaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAggtgtaacgtaaAGATCGAGACCCGACGC chrX:56668583-Reference-T;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative A atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GCAACGCAGCTT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgcaacgcagcttAGATCGAGACCCGACGC chrX:56668583-Alternative-A;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Variant C atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AGTGGCTTAAGA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAagtggcttaagaAGATCGAGACCCGACGC chrX:56668583-Variant-C;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative A atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GCCTTGGTATAA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAgccttggtataaAGATCGAGACCCGACGC chrX:56668583-Alternative-A;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative A atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaa GGCACCAATGCT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAggcaccaatgctAGATCGAGACCCGACGC chrX:56668583-Alternative-A;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Variant C atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AGGCGGTAGATA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAaggcggtagataAGATCGAGACCCGACGC chrX:56668583-Variant-C;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Variant C atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AAGGAACAACCT CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaCaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAaaggaacaacctAGATCGAGACCCGACGC chrX:56668583-Variant-C;Patient-26 chrX:56668583-TC DeNovo Patient-26 intergenic NA 0.000512821 -0.02 2.32 0 UBQLN2 78556 Alternative A atacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaa AGTACCTCGGAA CGACGCGGTCTCTCTCTatacgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtaAaataataataaaattttaaaaaaaagaattggatggtacagattctaaaAGAGGGAGACGGACGTCTCAATAAagtacctcggaaAGATCGAGACCCGACGC chrX:56668583-Alternative-A;Patient-26 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative C attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt GTATCAGTGTAC CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAgtatcagtgtacAGATCGAGACCCGACGC chrX:57239174-Alternative-C;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative C attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CTGGTTGACTAA CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAActggttgactaaAGATCGAGACCCGACGC chrX:57239174-Alternative-C;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative C attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt GTATACGGTCGA CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAgtatacggtcgaAGATCGAGACCCGACGC chrX:57239174-Alternative-C;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Variant T attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt ACTATGATGTGC CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAactatgatgtgcAGATCGAGACCCGACGC chrX:57239174-Variant-T;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative C attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AAGGTGAGTGGT CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAaaggtgagtggtAGATCGAGACCCGACGC chrX:57239174-Alternative-C;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Variant T attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt ACGTCTAGTCGG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAacgtctagtcggAGATCGAGACCCGACGC chrX:57239174-Variant-T;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Variant T attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CATCGGCATCAG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAcatcggcatcagAGATCGAGACCCGACGC chrX:57239174-Variant-T;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative A attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CTGAGTGATCTA CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAActgagtgatctaAGATCGAGACCCGACGC chrX:57239174-Alternative-A;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative A attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt ACGGTCGATAGT CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAacggtcgatagtAGATCGAGACCCGACGC chrX:57239174-Alternative-A;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative A attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AAGGCACCACGA CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAaaggcaccacgaAGATCGAGACCCGACGC chrX:57239174-Alternative-A;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative C attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AGGCTAATAAGG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatCaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAaggctaataaggAGATCGAGACCCGACGC chrX:57239174-Alternative-C;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Reference G attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AACGCGTATCGG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAaacgcgtatcggAGATCGAGACCCGACGC chrX:57239174-Reference-G;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Reference G attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AGTCGACGGTTC CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAagtcgacggttcAGATCGAGACCCGACGC chrX:57239174-Reference-G;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative A attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CGGAGTTCTGAG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAcggagttctgagAGATCGAGACCCGACGC chrX:57239174-Alternative-A;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Reference G attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt GGTCTTGGATCG CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAggtcttggatcgAGATCGAGACCCGACGC chrX:57239174-Reference-G;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Reference G attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CGATCTAGCGAC CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAcgatctagcgacAGATCGAGACCCGACGC chrX:57239174-Reference-G;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Variant T attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CTTGCTGGACCT CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAActtgctggacctAGATCGAGACCCGACGC chrX:57239174-Variant-T;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Reference G attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt GCATTCGCCGTT CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatGaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAgcattcgccgttAGATCGAGACCCGACGC chrX:57239174-Reference-G;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Alternative A attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt CTGCATCAGTAT CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatAaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAActgcatcagtatAGATCGAGACCCGACGC chrX:57239174-Alternative-A;Patient-32 chrX:57239174-GT DeNovo Patient-32 intergenic 0.000691 0.00103 -0.03 2.13 0 FAAH2 73935 Variant T attcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttattt AGTATCCGCGTC CGACGCGGTCTCTCTCTattcaaaagcctttgaaaaatatgggactacataaaacaatgaaagatatTaatcataactattcccgtttactgaaaatggtgtcctgtggttttatttAGAGGGAGACGGACGTCTCAATAAagtatccgcgtcAGATCGAGACCCGACGC chrX:57239174-Variant-T;Patient-32 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative T aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagag AGCGGATAAGTT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAagcggataagttAGATCGAGACCCGACGC chrX:583939-Alternative-T;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Reference G aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagag GCAGTAGATGAT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAgcagtagatgatAGATCGAGACCCGACGC chrX:583939-Reference-G;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Reference G aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagag CGCTATACTTGT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcgctatacttgtAGATCGAGACCCGACGC chrX:583939-Reference-G;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Reference G aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagag GTTGTACGTAGT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAgttgtacgtagtAGATCGAGACCCGACGC chrX:583939-Reference-G;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Reference G aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagag AGTCTAGGAGAT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAagtctaggagatAGATCGAGACCCGACGC chrX:583939-Reference-G;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Reference G aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagag CAGCGTGAACTA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaGaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcagcgtgaactaAGATCGAGACCCGACGC chrX:583939-Reference-G;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative C aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagag GTAGCTCGCCTA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAgtagctcgcctaAGATCGAGACCCGACGC chrX:583939-Alternative-C;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative C aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagag ATTCTGTTCGGT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAattctgttcggtAGATCGAGACCCGACGC chrX:583939-Alternative-C;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative T aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagag CGCGAATTATGA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcgcgaattatgaAGATCGAGACCCGACGC chrX:583939-Alternative-T;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative T aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagag CAACCAATTCCT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcaaccaattcctAGATCGAGACCCGACGC chrX:583939-Alternative-T;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative C aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagag GGTGGATGATCG CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAggtggatgatcgAGATCGAGACCCGACGC chrX:583939-Alternative-C;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Variant A aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagag GTCTACGCGAGA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAgtctacgcgagaAGATCGAGACCCGACGC chrX:583939-Variant-A;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative T aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagag AATGTACGCCGA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAaatgtacgccgaAGATCGAGACCCGACGC chrX:583939-Alternative-T;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Variant A aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagag GTTATGTCCTAC CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAgttatgtcctacAGATCGAGACCCGACGC chrX:583939-Variant-A;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative T aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagag ACATCGGACGGT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaTaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAacatcggacggtAGATCGAGACCCGACGC chrX:583939-Alternative-T;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative C aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagag CGTCTAGACGGT CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcgtctagacggtAGATCGAGACCCGACGC chrX:583939-Alternative-C;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Alternative C aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagag CGGTGGTATATA CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaCaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcggtggtatataAGATCGAGACCCGACGC chrX:583939-Alternative-C;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Variant A aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagag CAAGGTAGCGTC CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAcaaggtagcgtcAGATCGAGACCCGACGC chrX:583939-Variant-A;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Variant A aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagag AGGAATTGTACG CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAaggaattgtacgAGATCGAGACCCGACGC chrX:583939-Variant-A;Patient-84 chrX:583939-GA Inherited Patient-84 intergenic 7.8e-05 0.001025641 0.19 5.77 0 SHOX 1139 Variant A aaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagag AGCACGCGTAAG CGACGCGGTCTCTCTCTaaagagagcgagaagagagagagaaagacagagagagagagaaagagagaAaagacagagagagaagagagagagaagacagaaagacacagagagagagAGAGGGAGACGGACGTCTCAATAAagcacgcgtaagAGATCGAGACCCGACGC chrX:583939-Variant-A;Patient-84 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Variant G gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattc CGTCCGTCTGTT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAcgtccgtctgttAGATCGAGACCCGACGC chrX:63473706-Variant-G;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Reference C gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattc CGTCGTAACCAC CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAcgtcgtaaccacAGATCGAGACCCGACGC chrX:63473706-Reference-C;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative A gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattc AATGATGTTCGG CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAaatgatgttcggAGATCGAGACCCGACGC chrX:63473706-Alternative-A;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative T gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattc CAGCGCTAACAT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAcagcgctaacatAGATCGAGACCCGACGC chrX:63473706-Alternative-T;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Reference C gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattc ACATAGGCGAGA CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAacataggcgagaAGATCGAGACCCGACGC chrX:63473706-Reference-C;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative A gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GCACGAGGTGAT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgcacgaggtgatAGATCGAGACCCGACGC chrX:63473706-Alternative-A;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative A gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattc AACAGCGTACAT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAaacagcgtacatAGATCGAGACCCGACGC chrX:63473706-Alternative-A;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative A gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GCGGTACTTACG CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgcggtacttacgAGATCGAGACCCGACGC chrX:63473706-Alternative-A;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative T gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattc CAGCGAAGGAGA CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAcagcgaaggagaAGATCGAGACCCGACGC chrX:63473706-Alternative-T;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative T gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GAAGATCGCGAC CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgaagatcgcgacAGATCGAGACCCGACGC chrX:63473706-Alternative-T;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative A gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattc AACAGCAATGCT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgAgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAaacagcaatgctAGATCGAGACCCGACGC chrX:63473706-Alternative-A;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Reference C gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattc ATAGTGCAACCT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAatagtgcaacctAGATCGAGACCCGACGC chrX:63473706-Reference-C;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Variant G gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattc CATGACCGCATA CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAcatgaccgcataAGATCGAGACCCGACGC chrX:63473706-Variant-G;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Variant G gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattc AAGATCGACGAT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAaagatcgacgatAGATCGAGACCCGACGC chrX:63473706-Variant-G;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative T gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GCCGTAAGCCTT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgccgtaagccttAGATCGAGACCCGACGC chrX:63473706-Alternative-T;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Variant G gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattc AGCTCCGAGTCT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAagctccgagtctAGATCGAGACCCGACGC chrX:63473706-Variant-G;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Alternative T gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattc ACTCGGCTAGCA CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgTgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAactcggctagcaAGATCGAGACCCGACGC chrX:63473706-Alternative-T;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Reference C gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GGAGTCACACGT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAggagtcacacgtAGATCGAGACCCGACGC chrX:63473706-Reference-C;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Variant G gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GTTGACCGAACT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgGgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgttgaccgaactAGATCGAGACCCGACGC chrX:63473706-Variant-G;Patient-26 chrX:63473706-CG DeNovo Patient-26 intergenic 4.9e-05 0.00154 -0.18 0.82 0 AMER1 48081 Reference C gcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattc GCGTATAGTCAT CGACGCGGTCTCTCTCTgcgtgatgcctccagctttgttcttttggcttaggattgacttggagatgCgggctcttttttggttccatatgaacttgaaagtagttttttccaattcAGAGGGAGACGGACGTCTCAATAAgcgtatagtcatAGATCGAGACCCGACGC chrX:63473706-Reference-C;Patient-26 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Reference A gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CAATGCGGTACA CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcaatgcggtacaAGATCGAGACCCGACGC chrX:64157860-Reference-A;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative T gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CGGACCTCGTAA CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcggacctcgtaaAGATCGAGACCCGACGC chrX:64157860-Alternative-T;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Variant C gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CAAGTCGGATAA CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcaagtcggataaAGATCGAGACCCGACGC chrX:64157860-Variant-C;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Reference A gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag GCATCGATGTCG CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAgcatcgatgtcgAGATCGAGACCCGACGC chrX:64157860-Reference-A;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Reference A gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CTTATGGCGCGT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAActtatggcgcgtAGATCGAGACCCGACGC chrX:64157860-Reference-A;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative T gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CGTATCCGTGCT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcgtatccgtgctAGATCGAGACCCGACGC chrX:64157860-Alternative-T;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative T gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag GTCATCGCTCGT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAgtcatcgctcgtAGATCGAGACCCGACGC chrX:64157860-Alternative-T;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Variant C gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag ATTCCTTACGGT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAattccttacggtAGATCGAGACCCGACGC chrX:64157860-Variant-C;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Reference A gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CGATGTTACGCG CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcgatgttacgcgAGATCGAGACCCGACGC chrX:64157860-Reference-A;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Variant C gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag GTTCCGGTAGTC CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAgttccggtagtcAGATCGAGACCCGACGC chrX:64157860-Variant-C;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Variant C gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag AGTGCTTGATAC CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAagtgcttgatacAGATCGAGACCCGACGC chrX:64157860-Variant-C;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Reference A gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag GGCTTGGTATGC CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaAtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAggcttggtatgcAGATCGAGACCCGACGC chrX:64157860-Reference-A;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Variant C gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag CGGTCTGACATC CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaCtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAcggtctgacatcAGATCGAGACCCGACGC chrX:64157860-Variant-C;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative T gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag ACTGAGATAAGG CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAactgagataaggAGATCGAGACCCGACGC chrX:64157860-Alternative-T;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative G gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag ATTCCGGTATCA CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAattccggtatcaAGATCGAGACCCGACGC chrX:64157860-Alternative-G;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative G gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag AACAGCTGTACT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAaacagctgtactAGATCGAGACCCGACGC chrX:64157860-Alternative-G;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative G gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag GGTACGGCTTGT CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAggtacggcttgtAGATCGAGACCCGACGC chrX:64157860-Alternative-G;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative G gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag ATATACTGCGAG CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAatatactgcgagAGATCGAGACCCGACGC chrX:64157860-Alternative-G;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative T gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag AGTGGCTAATCA CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaTtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAagtggctaatcaAGATCGAGACCCGACGC chrX:64157860-Alternative-T;Patient-76 chrX:64157860-AC Inherited Patient-76 intronic ZC4H2 NA 4.95e-05 -0.13 1.17 0 ZC4H2 96763 Alternative G gatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatag ACTCGGATTCGC CGACGCGGTCTCTCTCTgatcagaacagaactgaaggagctagagacatgaaaaaaccttcaaaaaaGtcaatgaattcaagagctggtttttgaaaaaagtcatcaaaatagatagAGAGGGAGACGGACGTCTCAATAAactcggattcgcAGATCGAGACCCGACGC chrX:64157860-Alternative-G;Patient-76 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative C aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctccca CTAGAACGGAGT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAActagaacggagtAGATCGAGACCCGACGC chrX:66698867-Alternative-C;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative C aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctccca CATCGCAATAGT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAcatcgcaatagtAGATCGAGACCCGACGC chrX:66698867-Alternative-C;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative C aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctccca CGTTGATACCGG CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAcgttgataccggAGATCGAGACCCGACGC chrX:66698867-Alternative-C;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative C aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctccca CTCAATTCGCGC CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAActcaattcgcgcAGATCGAGACCCGACGC chrX:66698867-Alternative-C;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative A aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctccca AACGCGATAACA CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAaacgcgataacaAGATCGAGACCCGACGC chrX:66698867-Alternative-A;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative C aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctccca AACGTAAGAGCA CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagCtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAaacgtaagagcaAGATCGAGACCCGACGC chrX:66698867-Alternative-C;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative A aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctccca GGAATGGTACAG CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAggaatggtacagAGATCGAGACCCGACGC chrX:66698867-Alternative-A;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Reference G aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctccca GTCATCGGCGAT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgtcatcggcgatAGATCGAGACCCGACGC chrX:66698867-Reference-G;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Variant T aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctccca CGCAACACGCTA CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAcgcaacacgctaAGATCGAGACCCGACGC chrX:66698867-Variant-T;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative A aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctccca AAGACTATGCCT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAaagactatgcctAGATCGAGACCCGACGC chrX:66698867-Alternative-A;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Variant T aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctccca GGCTAGTCTGAC CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAggctagtctgacAGATCGAGACCCGACGC chrX:66698867-Variant-T;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative A aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctccca GTGGCATATCAT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgtggcatatcatAGATCGAGACCCGACGC chrX:66698867-Alternative-A;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Variant T aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctccca CACGCGGTACTT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAcacgcggtacttAGATCGAGACCCGACGC chrX:66698867-Variant-T;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Reference G aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctccca GTAGGTTCGCAC CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgtaggttcgcacAGATCGAGACCCGACGC chrX:66698867-Reference-G;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Variant T aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctccca GTGATAGAACAC CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgtgatagaacacAGATCGAGACCCGACGC chrX:66698867-Variant-T;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Variant T aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctccca GCGTATACCGTC CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagTtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgcgtataccgtcAGATCGAGACCCGACGC chrX:66698867-Variant-T;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Alternative A aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctccca AATGTGTTGCGT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagAtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAaatgtgttgcgtAGATCGAGACCCGACGC chrX:66698867-Alternative-A;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Reference G aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctccca GCAGCAACACAT CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAgcagcaacacatAGATCGAGACCCGACGC chrX:66698867-Reference-G;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Reference G aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctccca ACTGAGCATGAA CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAactgagcatgaaAGATCGAGACCCGACGC chrX:66698867-Reference-G;Patient-39 chrX:66698867-GT DeNovo Patient-39 intergenic 0.000789 0.00359 -0.07 1.69 0 AR 65006 Reference G aggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctccca AATGACTGAAGG CGACGCGGTCTCTCTCTaggtaaacttatatcatggggtttgctgtacagattattttgtcaccaagGtattaatcatagtgcatattaataatatttcctgatcttctccctcccaAGAGGGAGACGGACGTCTCAATAAaatgactgaaggAGATCGAGACCCGACGC chrX:66698867-Reference-G;Patient-39 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Reference G agaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcat CGTGACCGTTAT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAcgtgaccgttatAGATCGAGACCCGACGC chrX:69603985-Reference-G;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Reference G agaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcat GCAACACCGTGT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgcaacaccgtgtAGATCGAGACCCGACGC chrX:69603985-Reference-G;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Variant A agaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcat ATTGACCACGGT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAattgaccacggtAGATCGAGACCCGACGC chrX:69603985-Variant-A;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative T agaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcat GGATCGTGGAAC CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAggatcgtggaacAGATCGAGACCCGACGC chrX:69603985-Alternative-T;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Reference G agaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcat GCGGCATACTGA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgcggcatactgaAGATCGAGACCCGACGC chrX:69603985-Reference-G;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Variant A agaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcat GTAACGTAGTCT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgtaacgtagtctAGATCGAGACCCGACGC chrX:69603985-Variant-A;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative T agaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcat ACGAATGCCGAC CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAacgaatgccgacAGATCGAGACCCGACGC chrX:69603985-Alternative-T;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Reference G agaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcat CACGATTACCGC CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAcacgattaccgcAGATCGAGACCCGACGC chrX:69603985-Reference-G;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative T agaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcat GTATACTGCGAA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgtatactgcgaaAGATCGAGACCCGACGC chrX:69603985-Alternative-T;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative T agaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcat AAGCGGTCGAGA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAaagcggtcgagaAGATCGAGACCCGACGC chrX:69603985-Alternative-T;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative T agaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcat CTCGGACTCAGA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagTaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAActcggactcagaAGATCGAGACCCGACGC chrX:69603985-Alternative-T;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Reference G agaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcat GATCCGGCAATC CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagGaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgatccggcaatcAGATCGAGACCCGACGC chrX:69603985-Reference-G;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative C agaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcat GGCTATTCCGTC CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAggctattccgtcAGATCGAGACCCGACGC chrX:69603985-Alternative-C;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Variant A agaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcat CGTATACTCTGA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAcgtatactctgaAGATCGAGACCCGACGC chrX:69603985-Variant-A;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative C agaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcat AAGCGCTATGTT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAaagcgctatgttAGATCGAGACCCGACGC chrX:69603985-Alternative-C;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative C agaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcat AATCGTTGTCGT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAaatcgttgtcgtAGATCGAGACCCGACGC chrX:69603985-Alternative-C;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Variant A agaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcat CAGACGCTCGAT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAcagacgctcgatAGATCGAGACCCGACGC chrX:69603985-Variant-A;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative C agaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcat ACGCTATCGGCA CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAacgctatcggcaAGATCGAGACCCGACGC chrX:69603985-Alternative-C;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Variant A agaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcat GTGTTCATGGAT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagAaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAgtgttcatggatAGATCGAGACCCGACGC chrX:69603985-Variant-A;Patient-91 chrX:69603985-GA Inherited Patient-91 intronic KIF4A 0.000319 0.000148471 -0.09 1.54 -0.95 DLG3 60719 Alternative C agaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcat AGCGGAATTAGT CGACGCGGTCTCTCTCTagaagaaaggagacatctctataaagtgatgacaactttacattctacagCaatatatattccacattgacaaggatctttgttttgctcacttctgcatAGAGGGAGACGGACGTCTCAATAAagcggaattagtAGATCGAGACCCGACGC chrX:69603985-Alternative-C;Patient-91 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative T gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa AACTCCTACGTC CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaactcctacgtcAGATCGAGACCCGACGC chrX:70882976-Alternative-T;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative T gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa GGTCTTGATCTT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAggtcttgatcttAGATCGAGACCCGACGC chrX:70882976-Alternative-T;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative T gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa AGCGTGAAGTTA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAagcgtgaagttaAGATCGAGACCCGACGC chrX:70882976-Alternative-T;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative T gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa AACTACGCGTAA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaactacgcgtaaAGATCGAGACCCGACGC chrX:70882976-Alternative-T;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Variant G gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACTCACGCGTGT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAactcacgcgtgtAGATCGAGACCCGACGC chrX:70882976-Variant-G;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Reference A gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa CTGTCGAGGTAC CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAActgtcgaggtacAGATCGAGACCCGACGC chrX:70882976-Reference-A;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative T gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACGACGTAAGCG CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaTaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAacgacgtaagcgAGATCGAGACCCGACGC chrX:70882976-Alternative-T;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Variant G gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa GTACGACTAACG CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAgtacgactaacgAGATCGAGACCCGACGC chrX:70882976-Variant-G;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Variant G gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACGATTGTGAGA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAacgattgtgagaAGATCGAGACCCGACGC chrX:70882976-Variant-G;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Variant G gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa GGACTTCGACGT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAggacttcgacgtAGATCGAGACCCGACGC chrX:70882976-Variant-G;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Variant G gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACCGTCACGCTA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaGaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaccgtcacgctaAGATCGAGACCCGACGC chrX:70882976-Variant-G;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative C gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACGCTATGAACT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAacgctatgaactAGATCGAGACCCGACGC chrX:70882976-Alternative-C;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Reference A gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa CGCTCGCAAGAT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAcgctcgcaagatAGATCGAGACCCGACGC chrX:70882976-Reference-A;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Reference A gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACATAACGGCAT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAacataacggcatAGATCGAGACCCGACGC chrX:70882976-Reference-A;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Reference A gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa ACCATGGAATGA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaccatggaatgaAGATCGAGACCCGACGC chrX:70882976-Reference-A;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative C gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa AAGACGCGCAGA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaagacgcgcagaAGATCGAGACCCGACGC chrX:70882976-Alternative-C;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative C gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa GACTAGAATGGT CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAgactagaatggtAGATCGAGACCCGACGC chrX:70882976-Alternative-C;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative C gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa GATTGGTCAAGA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAgattggtcaagaAGATCGAGACCCGACGC chrX:70882976-Alternative-C;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Reference A gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa CAGGCTAACTAA CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaAaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAcaggctaactaaAGATCGAGACCCGACGC chrX:70882976-Reference-A;Patient-97 chrX:70882976-AG DeNovo Patient-97 intergenic NA 0.000315 -0.05 1.98 -0.98 CXCR3 44608 Alternative C gctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaa AGGCGCTTATCG CGACGCGGTCTCTCTCTgctgaacaggatatggagggaacccgcttggctgcagctccggagctccaCaggtggcagctgttcatcttgtaggaagatgctggctccaacctgtgaaAGAGGGAGACGGACGTCTCAATAAaggcgcttatcgAGATCGAGACCCGACGC chrX:70882976-Alternative-C;Patient-97 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative C atactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc CGCATACGATAC CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAcgcatacgatacAGATCGAGACCCGACGC chrX:7094453-Alternative-C;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative C atactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GAGTTGACCGGT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgagttgaccggtAGATCGAGACCCGACGC chrX:7094453-Alternative-C;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative C atactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GGTTAAGATGGT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAggttaagatggtAGATCGAGACCCGACGC chrX:7094453-Alternative-C;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative C atactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GCCGCTGATCAA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgccgctgatcaaAGATCGAGACCCGACGC chrX:7094453-Alternative-C;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative G atactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc AAGGAACAGCGT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAaaggaacagcgtAGATCGAGACCCGACGC chrX:7094453-Alternative-G;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative G atactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GAGCCTTACCAT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgagccttaccatAGATCGAGACCCGACGC chrX:7094453-Alternative-G;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative G atactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GTTGACAGCGCT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgttgacagcgctAGATCGAGACCCGACGC chrX:7094453-Alternative-G;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative G atactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc CGACGCTTGTTC CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAcgacgcttgttcAGATCGAGACCCGACGC chrX:7094453-Alternative-G;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Variant T atactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GGTGGTGTCGAA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAggtggtgtcgaaAGATCGAGACCCGACGC chrX:7094453-Variant-T;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Reference A atactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc AGTAGTCGTCAT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAagtagtcgtcatAGATCGAGACCCGACGC chrX:7094453-Reference-A;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative C atactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc ATAACGCTCCAA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacCcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAataacgctccaaAGATCGAGACCCGACGC chrX:7094453-Alternative-C;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Alternative G atactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GAGTTGTAACCA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacGcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgagttgtaaccaAGATCGAGACCCGACGC chrX:7094453-Alternative-G;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Variant T atactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc AGCCGAAGCATA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAagccgaagcataAGATCGAGACCCGACGC chrX:7094453-Variant-T;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Variant T atactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc CTAGCTCAGTTA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAActagctcagttaAGATCGAGACCCGACGC chrX:7094453-Variant-T;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Variant T atactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc AGCAGTTCCATA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAagcagttccataAGATCGAGACCCGACGC chrX:7094453-Variant-T;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Reference A atactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc CTTAATCATCGG CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAActtaatcatcggAGATCGAGACCCGACGC chrX:7094453-Reference-A;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Variant T atactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GCAGTGATAGCT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacTcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAgcagtgatagctAGATCGAGACCCGACGC chrX:7094453-Variant-T;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Reference A atactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GGAGATCCATAC CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAggagatccatacAGATCGAGACCCGACGC chrX:7094453-Reference-A;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Reference A atactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc GGATCATTCGAA CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAggatcattcgaaAGATCGAGACCCGACGC chrX:7094453-Reference-A;Patient-37 chrX:7094453-AT Inherited Patient-37 intergenic 9.1e-05 0.000513 0.11 4.47 0.82 STS 43018 Reference A atactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaaccc CATGCTAGGCCT CGACGCGGTCTCTCTCTatactgagatagccggcatactccagcagctgggttttagagcagagcacAcatggatgtgaaagatctggaaattgatttccttagagcatcccaacccAGAGGGAGACGGACGTCTCAATAAcatgctaggcctAGATCGAGACCCGACGC chrX:7094453-Reference-A;Patient-37 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Variant T ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GGACGACTATAA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAggacgactataaAGATCGAGACCCGACGC chrX:71701703-Variant-T;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Variant T ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GTCATTGGCGAC CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgtcattggcgacAGATCGAGACCCGACGC chrX:71701703-Variant-T;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Variant T ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt AGATCGCGTCGT CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAagatcgcgtcgtAGATCGAGACCCGACGC chrX:71701703-Variant-T;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative C ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt AACGTTGACGAC CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAaacgttgacgacAGATCGAGACCCGACGC chrX:71701703-Alternative-C;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative A ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt CGTTGCGCTGAT CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAcgttgcgctgatAGATCGAGACCCGACGC chrX:71701703-Alternative-A;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Variant T ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GTCAAGCGTCCA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgtcaagcgtccaAGATCGAGACCCGACGC chrX:71701703-Variant-T;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Reference G ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GCCAAGACTACG CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgccaagactacgAGATCGAGACCCGACGC chrX:71701703-Reference-G;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative A ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt CGCTCTAGCCTA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAcgctctagcctaAGATCGAGACCCGACGC chrX:71701703-Alternative-A;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative C ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt CGACGTTACGCA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAcgacgttacgcaAGATCGAGACCCGACGC chrX:71701703-Alternative-C;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative A ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt ACATAGCCAAGA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAacatagccaagaAGATCGAGACCCGACGC chrX:71701703-Alternative-A;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative C ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GACTACTTAACC CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgactacttaaccAGATCGAGACCCGACGC chrX:71701703-Alternative-C;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Variant T ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt AATGTACCTCGA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctTctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAaatgtacctcgaAGATCGAGACCCGACGC chrX:71701703-Variant-T;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Reference G ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt ATAGCTACGAAC CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAatagctacgaacAGATCGAGACCCGACGC chrX:71701703-Reference-G;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Reference G ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GCCTTAACTGCG CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgccttaactgcgAGATCGAGACCCGACGC chrX:71701703-Reference-G;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative A ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GACGACTAGACG CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgacgactagacgAGATCGAGACCCGACGC chrX:71701703-Alternative-A;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative C ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt ATATAAGGACCG CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAatataaggaccgAGATCGAGACCCGACGC chrX:71701703-Alternative-C;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative C ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt CGTAATCCGTGG CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctCctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAcgtaatccgtggAGATCGAGACCCGACGC chrX:71701703-Alternative-C;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Alternative A ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt GATCATACTCGA CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctActcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAgatcatactcgaAGATCGAGACCCGACGC chrX:71701703-Alternative-A;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Reference G ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt CTTAATCCGCAT CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAActtaatccgcatAGATCGAGACCCGACGC chrX:71701703-Reference-G;Patient-52 chrX:71701703-GT DeNovo Patient-52 intronic HDAC8 NA 4.95e-05 -0.13 1.16 -1.24 HDAC8 91249 Reference G ttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgt AGCCGTGAGGTT CGACGCGGTCTCTCTCTttttattatgttggccaggctggtcttgaacccctagcctcaatcaatctGctcaccttggcctcccaaagtgctgggattacagctgtgagccacctgtAGAGGGAGACGGACGTCTCAATAAagccgtgaggttAGATCGAGACCCGACGC chrX:71701703-Reference-G;Patient-52 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative G agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGTCTACAGACG CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcgtctacagacgAGATCGAGACCCGACGC chrX:72736629-Alternative-G;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative C agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat GCCTTACTCGAC CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAgccttactcgacAGATCGAGACCCGACGC chrX:72736629-Alternative-C;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative G agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat GTTGACGACCGT CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAgttgacgaccgtAGATCGAGACCCGACGC chrX:72736629-Alternative-G;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative G agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat AAGGTATTGCGT CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAaaggtattgcgtAGATCGAGACCCGACGC chrX:72736629-Alternative-G;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Variant T agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat GGTTGATGTTCA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAggttgatgttcaAGATCGAGACCCGACGC chrX:72736629-Variant-T;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Variant T agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat ACCGAATCGGAC CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAaccgaatcggacAGATCGAGACCCGACGC chrX:72736629-Variant-T;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative G agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat ATCCGGAACACG CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAatccggaacacgAGATCGAGACCCGACGC chrX:72736629-Alternative-G;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Variant T agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat ATTGGTTGTGCA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAattggttgtgcaAGATCGAGACCCGACGC chrX:72736629-Variant-T;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Variant T agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat ACTTCCGAACGG CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAacttccgaacggAGATCGAGACCCGACGC chrX:72736629-Variant-T;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative G agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGGATCATACTA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcGgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcggatcatactaAGATCGAGACCCGACGC chrX:72736629-Alternative-G;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Variant T agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGTTGCGTCGAA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcTgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcgttgcgtcgaaAGATCGAGACCCGACGC chrX:72736629-Variant-T;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Reference A agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGCGTTCGAGAA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcgcgttcgagaaAGATCGAGACCCGACGC chrX:72736629-Reference-A;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Reference A agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGGAGCAGTCAT CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcggagcagtcatAGATCGAGACCCGACGC chrX:72736629-Reference-A;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative C agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat ATTACCATACGC CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAattaccatacgcAGATCGAGACCCGACGC chrX:72736629-Alternative-C;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative C agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat AACGCATGCTAA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAaacgcatgctaaAGATCGAGACCCGACGC chrX:72736629-Alternative-C;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative C agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat GCCGATTGATGC CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAgccgattgatgcAGATCGAGACCCGACGC chrX:72736629-Alternative-C;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Reference A agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGAACTCCGAAC CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcgaactccgaacAGATCGAGACCCGACGC chrX:72736629-Reference-A;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Reference A agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat AAGACGGTAACG CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAaagacggtaacgAGATCGAGACCCGACGC chrX:72736629-Reference-A;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Reference A agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat CGTTGAGTGTCG CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcAgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAcgttgagtgtcgAGATCGAGACCCGACGC chrX:72736629-Reference-A;Patient-66 chrX:72736629-AT DeNovo Patient-66 intergenic NA 0.000513 0.03 3.09 0 CDX4 69538 Alternative C agttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcat GCCGGCTATCTA CGACGCGGTCTCTCTCTagttcatgtcctttgtagggacatggatgaaattggaaatcagcattctcCgtaaactatcacaagaacaaaaaaccaaacaccgcatattctcactcatAGAGGGAGACGGACGTCTCAATAAgccggctatctaAGATCGAGACCCGACGC chrX:72736629-Alternative-C;Patient-66 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative T gaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GGCGTGATCCAT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAggcgtgatccatAGATCGAGACCCGACGC chrX:73650847-Alternative-T;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Reference G gaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa ACGACTTCACTT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAacgacttcacttAGATCGAGACCCGACGC chrX:73650847-Reference-G;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative T gaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa CTTGAAGACGCG CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAActtgaagacgcgAGATCGAGACCCGACGC chrX:73650847-Alternative-T;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative T gaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GTCGAGATTACA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAgtcgagattacaAGATCGAGACCCGACGC chrX:73650847-Alternative-T;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Reference G gaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa ATCACCACTTGT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAatcaccacttgtAGATCGAGACCCGACGC chrX:73650847-Reference-G;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative A gaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa CGCCTACTAACA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAcgcctactaacaAGATCGAGACCCGACGC chrX:73650847-Alternative-A;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Reference G gaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa ACGTTACACGCA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAacgttacacgcaAGATCGAGACCCGACGC chrX:73650847-Reference-G;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Reference G gaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GAGGTACGTAAG CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAgaggtacgtaagAGATCGAGACCCGACGC chrX:73650847-Reference-G;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Reference G gaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa CTCATCGTAGAA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggGattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAActcatcgtagaaAGATCGAGACCCGACGC chrX:73650847-Reference-G;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative A gaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GGCGTAACTAAG CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAggcgtaactaagAGATCGAGACCCGACGC chrX:73650847-Alternative-A;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Variant C gaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GGATCATACACG CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAggatcatacacgAGATCGAGACCCGACGC chrX:73650847-Variant-C;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative A gaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GCGTCTTCGAGA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAgcgtcttcgagaAGATCGAGACCCGACGC chrX:73650847-Alternative-A;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative A gaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GCGTGCTCTAGT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAgcgtgctctagtAGATCGAGACCCGACGC chrX:73650847-Alternative-A;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Variant C gaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa AGAATCGGACTA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAagaatcggactaAGATCGAGACCCGACGC chrX:73650847-Variant-C;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative T gaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GGCTCATCGGAT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAggctcatcggatAGATCGAGACCCGACGC chrX:73650847-Alternative-T;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative T gaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa AGAGCAAGTCAT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggTattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAagagcaagtcatAGATCGAGACCCGACGC chrX:73650847-Alternative-T;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Alternative A gaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa CGATAGTCACGA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggAattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAcgatagtcacgaAGATCGAGACCCGACGC chrX:73650847-Alternative-A;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Variant C gaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa ACACGTAACGCG CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAacacgtaacgcgAGATCGAGACCCGACGC chrX:73650847-Variant-C;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Variant C gaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa CGAACTCCTAGA CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAcgaactcctagaAGATCGAGACCCGACGC chrX:73650847-Variant-C;Patient-91 chrX:73650847-GC Inherited Patient-91 intronic SLC16A2 0.000136 8.38e-05 0.02 2.86 0.15 SLC16A2 9518 Variant C gaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaa GCGTCGTGGTAT CGACGCGGTCTCTCTCTgaactcttggactcaagccattggccctccttggcctcccaaagtgctggCattacaggcgtgtgccactgcacccagtctcagtttggagatttctcaaAGAGGGAGACGGACGTCTCAATAAgcgtcgtggtatAGATCGAGACCCGACGC chrX:73650847-Variant-C;Patient-91 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative C ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag GTAACGACGTCG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAgtaacgacgtcgAGATCGAGACCCGACGC chrX:74404767-Alternative-C;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Reference G ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CAGGTGATCGTC CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcaggtgatcgtcAGATCGAGACCCGACGC chrX:74404767-Reference-G;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative T ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag ACGTCCGTGTTC CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAacgtccgtgttcAGATCGAGACCCGACGC chrX:74404767-Alternative-T;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Reference G ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag GTTGAGAGCGCA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAgttgagagcgcaAGATCGAGACCCGACGC chrX:74404767-Reference-G;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative T ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CGTCAATTAACG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcgtcaattaacgAGATCGAGACCCGACGC chrX:74404767-Alternative-T;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Reference G ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag AGTCTACGAATC CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAagtctacgaatcAGATCGAGACCCGACGC chrX:74404767-Reference-G;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative T ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CGAACACACTAT CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcgaacacactatAGATCGAGACCCGACGC chrX:74404767-Alternative-T;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative C ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag AGCACCACTTAA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAagcaccacttaaAGATCGAGACCCGACGC chrX:74404767-Alternative-C;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative C ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag ACCGGTAGACAT CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAaccggtagacatAGATCGAGACCCGACGC chrX:74404767-Alternative-C;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative T ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag AACGCGCTTGCT CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAaacgcgcttgctAGATCGAGACCCGACGC chrX:74404767-Alternative-T;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Variant A ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CATAGTGCCGCA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcatagtgccgcaAGATCGAGACCCGACGC chrX:74404767-Variant-A;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Variant A ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CTGTGGAGCCTA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAActgtggagcctaAGATCGAGACCCGACGC chrX:74404767-Variant-A;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative T ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CAGGACGATACG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgTggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcaggacgatacgAGATCGAGACCCGACGC chrX:74404767-Alternative-T;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Reference G ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag ATAGACTAACCG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAatagactaaccgAGATCGAGACCCGACGC chrX:74404767-Reference-G;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Variant A ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CGCATCAAGGAC CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcgcatcaaggacAGATCGAGACCCGACGC chrX:74404767-Variant-A;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Variant A ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CGCCGGTGAATA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcgccggtgaataAGATCGAGACCCGACGC chrX:74404767-Variant-A;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative C ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CAACACCATACG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcaacaccatacgAGATCGAGACCCGACGC chrX:74404767-Alternative-C;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Reference G ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag GGATGCTTCAAT CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgGggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAggatgcttcaatAGATCGAGACCCGACGC chrX:74404767-Reference-G;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Variant A ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag GGAGATCGCTGA CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgAggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAggagatcgctgaAGATCGAGACCCGACGC chrX:74404767-Variant-A;Patient-104 chrX:74404767-GA DeNovo Patient-104 intergenic NA 3.91e-05 -0.05 1.95 0 ABCB7 28591 Alternative C ctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgag CGACATCACACG CGACGCGGTCTCTCTCTctttgctgaagttgcttatcagcttaaggagattttgggctcacacaatgCggtttactagatatacaatcatgtcgtctgcaaacaggtacaatttgagAGAGGGAGACGGACGTCTCAATAAcgacatcacacgAGATCGAGACCCGACGC chrX:74404767-Alternative-C;Patient-104 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Variant C gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CTTGTCTCGCGA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAActtgtctcgcgaAGATCGAGACCCGACGC chrX:77397450-Variant-C;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Variant C gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CACGTCGCAAGT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAcacgtcgcaagtAGATCGAGACCCGACGC chrX:77397450-Variant-C;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Variant C gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GGAATTCTGGTT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAggaattctggttAGATCGAGACCCGACGC chrX:77397450-Variant-C;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Variant C gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GACTACCGTGCA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAgactaccgtgcaAGATCGAGACCCGACGC chrX:77397450-Variant-C;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative G gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GTATAGTGAACG CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAgtatagtgaacgAGATCGAGACCCGACGC chrX:77397450-Alternative-G;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative G gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CTGCTTGTAACT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAActgcttgtaactAGATCGAGACCCGACGC chrX:77397450-Alternative-G;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative G gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt ACTGCTCGACGA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAactgctcgacgaAGATCGAGACCCGACGC chrX:77397450-Alternative-G;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative G gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt ACCGGATCCAAG CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAaccggatccaagAGATCGAGACCCGACGC chrX:77397450-Alternative-G;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Variant C gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GTGACAAGTTCT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataCttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAgtgacaagttctAGATCGAGACCCGACGC chrX:77397450-Variant-C;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative A gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CGAGACAAGTCA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAcgagacaagtcaAGATCGAGACCCGACGC chrX:77397450-Alternative-A;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative A gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GGATCGCCGTTA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAggatcgccgttaAGATCGAGACCCGACGC chrX:77397450-Alternative-A;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Reference T gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt AACGTAAGCCTT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAaacgtaagccttAGATCGAGACCCGACGC chrX:77397450-Reference-T;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative A gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt AGGCTCGACATA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAaggctcgacataAGATCGAGACCCGACGC chrX:77397450-Alternative-A;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Reference T gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GATATGATGCGA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAgatatgatgcgaAGATCGAGACCCGACGC chrX:77397450-Reference-T;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Reference T gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CGTAGACCTGCA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAcgtagacctgcaAGATCGAGACCCGACGC chrX:77397450-Reference-T;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative G gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CGCGATCAAGGT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataGttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAcgcgatcaaggtAGATCGAGACCCGACGC chrX:77397450-Alternative-G;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative A gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt AGATCGCACGGT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAagatcgcacggtAGATCGAGACCCGACGC chrX:77397450-Alternative-A;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Reference T gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt GGCGTACAGATA CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAggcgtacagataAGATCGAGACCCGACGC chrX:77397450-Reference-T;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Reference T gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CTAGTCGTACGG CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataTttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAActagtcgtacggAGATCGAGACCCGACGC chrX:77397450-Reference-T;Patient-35 chrX:77397450-TC DeNovo Patient-35 intergenic 0.000183 0.00103 0.26 6.71 0.26 TAF9B 2270 Alternative A gataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgt CGCGCTCGTATT CGACGCGGTCTCTCTCTgataagttaaataatatgtgtgagaaaatctgacaatatttttcattataAttctgtcctcaacaatttaactcttgcacatttaaattttgtacgtcgtAGAGGGAGACGGACGTCTCAATAAcgcgctcgtattAGATCGAGACCCGACGC chrX:77397450-Alternative-A;Patient-35 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Variant G ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct CTTGAATCGGAT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAActtgaatcggatAGATCGAGACCCGACGC chrX:77427350-Variant-G;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative T ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct ATCGATCGACAC CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAatcgatcgacacAGATCGAGACCCGACGC chrX:77427350-Alternative-T;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative T ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct AGATGCTTGACT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAagatgcttgactAGATCGAGACCCGACGC chrX:77427350-Alternative-T;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Variant G ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GGATGCATGTGG CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAggatgcatgtggAGATCGAGACCCGACGC chrX:77427350-Variant-G;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Variant G ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct CTTACCTAGGTT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAActtacctaggttAGATCGAGACCCGACGC chrX:77427350-Variant-G;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Variant G ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GTAACGACACCT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAgtaacgacacctAGATCGAGACCCGACGC chrX:77427350-Variant-G;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Variant G ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GCATAATCGGAT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgGtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAgcataatcggatAGATCGAGACCCGACGC chrX:77427350-Variant-G;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative A ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct AACACAGATGGT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAaacacagatggtAGATCGAGACCCGACGC chrX:77427350-Alternative-A;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative A ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GGTATTCTACAG CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAggtattctacagAGATCGAGACCCGACGC chrX:77427350-Alternative-A;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative T ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct CAGTAAGCTTGT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAcagtaagcttgtAGATCGAGACCCGACGC chrX:77427350-Alternative-T;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative T ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GCATAATTCGCA CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAgcataattcgcaAGATCGAGACCCGACGC chrX:77427350-Alternative-T;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative T ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct CGCATACGCAGT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgTtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAcgcatacgcagtAGATCGAGACCCGACGC chrX:77427350-Alternative-T;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Reference C ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct CGTTCCATCGCA CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAcgttccatcgcaAGATCGAGACCCGACGC chrX:77427350-Reference-C;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Reference C ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct ACCTTCACGACC CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAaccttcacgaccAGATCGAGACCCGACGC chrX:77427350-Reference-C;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Reference C ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct ACTAGATACCGT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAactagataccgtAGATCGAGACCCGACGC chrX:77427350-Reference-C;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative A ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GATATGCCGAAT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAgatatgccgaatAGATCGAGACCCGACGC chrX:77427350-Alternative-A;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Reference C ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct AATGTGTGGACA CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAaatgtgtggacaAGATCGAGACCCGACGC chrX:77427350-Reference-C;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative A ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GCAGGTAACTAA CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAgcaggtaactaaAGATCGAGACCCGACGC chrX:77427350-Alternative-A;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Reference C ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct GGTCAATGTCAT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgCtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAggtcaatgtcatAGATCGAGACCCGACGC chrX:77427350-Reference-C;Patient-12 chrX:77427350-CG DeNovo Patient-12 intergenic 0.000138 0.000513 NA NA NA TAF9B 32170 Alternative A ttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactct AACAGGCGAATT CGACGCGGTCTCTCTCTttttaaaaagtcatgaggggctgtttttacatggaatacatatatatatgAtaaatacatgtatgcatatgtatataaatttaaagctatatgttactctAGAGGGAGACGGACGTCTCAATAAaacaggcgaattAGATCGAGACCCGACGC chrX:77427350-Alternative-A;Patient-12 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Reference C tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GCAAGCGGACTT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAgcaagcggacttAGATCGAGACCCGACGC chrX:77981509-Reference-C;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Reference C tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CTATAAGCGGTT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAActataagcggttAGATCGAGACCCGACGC chrX:77981509-Reference-C;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Reference C tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GGTCAACGACAG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAggtcaacgacagAGATCGAGACCCGACGC chrX:77981509-Reference-C;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative A tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GATGCTCATGAT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAgatgctcatgatAGATCGAGACCCGACGC chrX:77981509-Alternative-A;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Reference C tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GAGTAGAGCGAG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAgagtagagcgagAGATCGAGACCCGACGC chrX:77981509-Reference-C;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Reference C tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CTTGACGCGTGA CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaCgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAActtgacgcgtgaAGATCGAGACCCGACGC chrX:77981509-Reference-C;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative A tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CGTTACCTATGT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAcgttacctatgtAGATCGAGACCCGACGC chrX:77981509-Alternative-A;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative A tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CGACGGACATTC CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAcgacggacattcAGATCGAGACCCGACGC chrX:77981509-Alternative-A;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative A tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg AAGTCGTAGCAA CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAaagtcgtagcaaAGATCGAGACCCGACGC chrX:77981509-Alternative-A;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative A tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg AGCTCGCTAGCA CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaAgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAagctcgctagcaAGATCGAGACCCGACGC chrX:77981509-Alternative-A;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative G tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg ATCGGCAGTTCG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAatcggcagttcgAGATCGAGACCCGACGC chrX:77981509-Alternative-G;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative G tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GGACTCTCTCGT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAggactctctcgtAGATCGAGACCCGACGC chrX:77981509-Alternative-G;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Variant T tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg ATTGAAGGACGT CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAattgaaggacgtAGATCGAGACCCGACGC chrX:77981509-Variant-T;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative G tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GGAACACCATCG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAggaacaccatcgAGATCGAGACCCGACGC chrX:77981509-Alternative-G;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative G tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GCAGACTTAAGA CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAgcagacttaagaAGATCGAGACCCGACGC chrX:77981509-Alternative-G;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Variant T tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CAGCACAATAAG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAcagcacaataagAGATCGAGACCCGACGC chrX:77981509-Variant-T;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Variant T tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg CACTTACGGTCC CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAcacttacggtccAGATCGAGACCCGACGC chrX:77981509-Variant-T;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Variant T tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GGCGAGTTAACG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAggcgagttaacgAGATCGAGACCCGACGC chrX:77981509-Variant-T;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Alternative G tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg GGCGAATTGCAG CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaGgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAggcgaattgcagAGATCGAGACCCGACGC chrX:77981509-Alternative-G;Patient-36 chrX:77981509-CT DeNovo Patient-36 intergenic 0.000242 0.000513 -0.37 0.22 -0.47 LPAR4 21696 Variant T tctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttg AGGAATGCAATC CGACGCGGTCTCTCTCTtctcctgcctcaacctcccgagtagctgggattacaggcacccaccaccaTgcctggctaatttttgtatttttagtagagatagggtttcaccatgttgAGAGGGAGACGGACGTCTCAATAAaggaatgcaatcAGATCGAGACCCGACGC chrX:77981509-Variant-T;Patient-36 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative G attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag AGGCAGTACAAG CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAaggcagtacaagAGATCGAGACCCGACGC chrX:78003307-Alternative-G;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative G attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag ACTTGCCATCGC CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAacttgccatcgcAGATCGAGACCCGACGC chrX:78003307-Alternative-G;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative G attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GCAAGAGGTTCG CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgcaagaggttcgAGATCGAGACCCGACGC chrX:78003307-Alternative-G;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Variant T attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GTTCGTATGGAT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgttcgtatggatAGATCGAGACCCGACGC chrX:78003307-Variant-T;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative G attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag ACGTCACGGCTA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAacgtcacggctaAGATCGAGACCCGACGC chrX:78003307-Alternative-G;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Variant T attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CAACGATTCGCG CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAcaacgattcgcgAGATCGAGACCCGACGC chrX:78003307-Variant-T;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Variant T attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CTGTGCTCCGAT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAActgtgctccgatAGATCGAGACCCGACGC chrX:78003307-Variant-T;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Variant T attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CGTTGCCGAGTT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAcgttgccgagttAGATCGAGACCCGACGC chrX:78003307-Variant-T;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Variant T attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GGCGACTATCGT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagTtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAggcgactatcgtAGATCGAGACCCGACGC chrX:78003307-Variant-T;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative G attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag ACAAGGTAAGCG CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagGtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAacaaggtaagcgAGATCGAGACCCGACGC chrX:78003307-Alternative-G;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative A attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GTAGCGTGTGCA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgtagcgtgtgcaAGATCGAGACCCGACGC chrX:78003307-Alternative-A;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative A attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GCATGCTTGACG CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgcatgcttgacgAGATCGAGACCCGACGC chrX:78003307-Alternative-A;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Reference C attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GTAGAACGTCAA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgtagaacgtcaaAGATCGAGACCCGACGC chrX:78003307-Reference-C;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative A attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GGCCGACTATCA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAggccgactatcaAGATCGAGACCCGACGC chrX:78003307-Alternative-A;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Reference C attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CGGACCGTAAGT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAcggaccgtaagtAGATCGAGACCCGACGC chrX:78003307-Reference-C;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Reference C attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CGCTAACCGACT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAcgctaaccgactAGATCGAGACCCGACGC chrX:78003307-Reference-C;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative A attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag GATTGCGGTATA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAgattgcggtataAGATCGAGACCCGACGC chrX:78003307-Alternative-A;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Alternative A attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag ATATGCGATCGT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagAtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAatatgcgatcgtAGATCGAGACCCGACGC chrX:78003307-Alternative-A;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Reference C attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag CGCGATGTCGTT CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAcgcgatgtcgttAGATCGAGACCCGACGC chrX:78003307-Reference-C;Patient-100 chrX:78003307-CT DeNovo Patient-100 5 prime UTR LPAR4 0.000202 7.81e-05 1.75 17.11 4.28 LPAR4 100 Reference C attcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccag ACGTACCAACTA CGACGCGGTCTCTCTCTattcaagagagggagtcgttaacaaagggaaagagataaatgtaaataagCtcacatttacagaatgagcggtttgcagtaaaaagctgcggcagcccagAGAGGGAGACGGACGTCTCAATAAacgtaccaactaAGATCGAGACCCGACGC chrX:78003307-Reference-C;Patient-100 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative G ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggca AACTAACCATGG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAaactaaccatggAGATCGAGACCCGACGC chrX:80409604-Alternative-G;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative G ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggca CGAATCGAGCGA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAcgaatcgagcgaAGATCGAGACCCGACGC chrX:80409604-Alternative-G;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative G ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggca CTAATCGCTCTT CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAActaatcgctcttAGATCGAGACCCGACGC chrX:80409604-Alternative-G;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative G ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggca GTACTATTCGTC CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAgtactattcgtcAGATCGAGACCCGACGC chrX:80409604-Alternative-G;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Variant A ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggca CGGCCATAACGA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAcggccataacgaAGATCGAGACCCGACGC chrX:80409604-Variant-A;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Variant A ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggca ATATACCGTCGA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAatataccgtcgaAGATCGAGACCCGACGC chrX:80409604-Variant-A;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative G ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggca GTGAGGATTCGG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctGactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAgtgaggattcggAGATCGAGACCCGACGC chrX:80409604-Alternative-G;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Variant A ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggca AGTGTTATGCCT CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAagtgttatgcctAGATCGAGACCCGACGC chrX:80409604-Variant-A;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative T ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggca CATAAGATGCAG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAcataagatgcagAGATCGAGACCCGACGC chrX:80409604-Alternative-T;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative T ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggca ACTAGGCTCAAT CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAactaggctcaatAGATCGAGACCCGACGC chrX:80409604-Alternative-T;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Reference C ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggca GCCGCATACCAT CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAgccgcataccatAGATCGAGACCCGACGC chrX:80409604-Reference-C;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Variant A ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggca AACGCGAACGTC CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAaacgcgaacgtcAGATCGAGACCCGACGC chrX:80409604-Variant-A;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative T ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggca CTTAGCTTGACG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAActtagcttgacgAGATCGAGACCCGACGC chrX:80409604-Alternative-T;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative T ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggca AGTAATTCGACC CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAagtaattcgaccAGATCGAGACCCGACGC chrX:80409604-Alternative-T;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Variant A ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggca ACAGATTCGTAC CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctAactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAacagattcgtacAGATCGAGACCCGACGC chrX:80409604-Variant-A;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Alternative T ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggca AAGGTAGGATGA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctTactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAaaggtaggatgaAGATCGAGACCCGACGC chrX:80409604-Alternative-T;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Reference C ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggca GCCGTGTAATCG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAgccgtgtaatcgAGATCGAGACCCGACGC chrX:80409604-Reference-C;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Reference C ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggca AGCGTATAAGCA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAagcgtataagcaAGATCGAGACCCGACGC chrX:80409604-Reference-C;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Reference C ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggca CGTAGACTTCAA CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAcgtagacttcaaAGATCGAGACCCGACGC chrX:80409604-Reference-C;Patient-105 chrX:80409604-CA DeNovo Patient-105 intronic HMGN5 NA 7.69e-05 -0.24 0.55 0 HMGN5 47836 Reference C ccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggca AACGTGTACGCG CGACGCGGTCTCTCTCTccgaaattatcctaagcaaaaagaacaaaactggaggaatcctattacctCactttaaattctacagagctttagtaatcaaaacaacatggtactggcaAGAGGGAGACGGACGTCTCAATAAaacgtgtacgcgAGATCGAGACCCGACGC chrX:80409604-Reference-C;Patient-105 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative G tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt ATCTTGCATTCG CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAatcttgcattcgAGATCGAGACCCGACGC chrX:82812037-Alternative-G;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative G tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt ATCACGGTAAGA CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAatcacggtaagaAGATCGAGACCCGACGC chrX:82812037-Alternative-G;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative G tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AGTGATACACCT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAagtgatacacctAGATCGAGACCCGACGC chrX:82812037-Alternative-G;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative G tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt GAGCTACATCTA CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgagctacatctaAGATCGAGACCCGACGC chrX:82812037-Alternative-G;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Variant T tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt ATATGCCGGATA CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAatatgccggataAGATCGAGACCCGACGC chrX:82812037-Variant-T;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Reference C tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AAGTACGCGTGC CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAaagtacgcgtgcAGATCGAGACCCGACGC chrX:82812037-Reference-C;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative A tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt CATCGTATCAAG CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcatcgtatcaagAGATCGAGACCCGACGC chrX:82812037-Alternative-A;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Variant T tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt GCAATCGGAATT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgcaatcggaattAGATCGAGACCCGACGC chrX:82812037-Variant-T;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative G tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt CGTGTAGATAAG CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaGgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcgtgtagataagAGATCGAGACCCGACGC chrX:82812037-Alternative-G;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Reference C tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AACCGAGTGAAT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAaaccgagtgaatAGATCGAGACCCGACGC chrX:82812037-Reference-C;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Variant T tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt GATCGAGCATCG CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgatcgagcatcgAGATCGAGACCCGACGC chrX:82812037-Variant-T;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Reference C tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt ACGCAGTAGATA CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAacgcagtagataAGATCGAGACCCGACGC chrX:82812037-Reference-C;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Variant T tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AGCGCCGTCATT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAagcgccgtcattAGATCGAGACCCGACGC chrX:82812037-Variant-T;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative A tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt GTTGAGTCTGAA CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAgttgagtctgaaAGATCGAGACCCGACGC chrX:82812037-Alternative-A;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Variant T tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt CGTTGTTCATGT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaTgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcgttgttcatgtAGATCGAGACCCGACGC chrX:82812037-Variant-T;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Reference C tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AGTGTATCTGAC CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAagtgtatctgacAGATCGAGACCCGACGC chrX:82812037-Reference-C;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Reference C tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AACGTAAGCTGT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaCgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAaacgtaagctgtAGATCGAGACCCGACGC chrX:82812037-Reference-C;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative A tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt AACACTGTCGAT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAaacactgtcgatAGATCGAGACCCGACGC chrX:82812037-Alternative-A;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative A tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt ATAAGGCAATCG CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAataaggcaatcgAGATCGAGACCCGACGC chrX:82812037-Alternative-A;Patient-53 chrX:82812037-CT DeNovo Patient-53 intergenic 5e-05 0.000513 0.55 9.82 0.11 POU3F4 48767 Alternative A tctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgtt CGCAACGCAATT CGACGCGGTCTCTCTCTtctcctgcctcagcctcccaagtagttgcgactacagggacatgccaccaAgccagctaatttttttgtatttttagtagagacagggtttcaccgtgttAGAGGGAGACGGACGTCTCAATAAcgcaacgcaattAGATCGAGACCCGACGC chrX:82812037-Alternative-A;Patient-53